Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.73572642G>A	CA347285348	ALMS1	c.10384G>A (p.Glu3462Lys) c.3470G>A c.7665G>A c.4831G>A (p.Glu1611Lys) c.7710G>A c.10765G>A (p.Glu3589Lys) c.919G>A (p.Glu307Lys) c.2121G>A c.153G>A c.1862G>A c.4256G>A (n.4256G>A) c.10639G>A (p.Glu3547Lys) n.4568G>A c.10768G>A (p.Glu3590Lys)
2	g.73572642G>C	CA347285345	ALMS1	c.10384G>C (p.Glu3462Gln) c.3470G>C c.7665G>C c.4831G>C (p.Glu1611Gln) c.7710G>C c.10765G>C (p.Glu3589Gln) c.919G>C (p.Glu307Gln) c.2121G>C c.153G>C c.1862G>C c.4256G>C (n.4256G>C) c.10639G>C (p.Glu3547Gln) n.4568G>C c.10768G>C (p.Glu3590Gln)
2	g.73572642G>T	CA347285343	ALMS1	c.10384G>T (p.Glu3462Ter) c.3470G>T c.7665G>T c.4831G>T (p.Glu1611Ter) c.7710G>T c.10765G>T (p.Glu3589Ter) c.919G>T (p.Glu307Ter) c.2121G>T c.153G>T c.1862G>T c.4256G>T (n.4256G>T) c.10639G>T (p.Glu3547Ter) n.4568G>T c.10768G>T (p.Glu3590Ter)
2	g.73572643del	CA2573052023	ALMS1	c.10385del (p.Glu3462GlyfsTer8) c.3471del c.7666del c.4832del (p.Glu1611GlyfsTer8) c.7711del c.10766del (p.Glu3589GlyfsTer8) c.920del (p.Glu307GlyfsTer8) c.2122del c.154del c.1863del c.4257del (n.4257del) c.10640del (p.Glu3547GlyfsTer8) n.4569del c.10769del (p.Glu3590GlyfsTer8)	ClinVar dbSNP
2	g.73572643A=	CA1261021467	ALMS1	c.10385A= (p.Glu3462=) c.3471A= c.7666A= c.4832A= (p.Glu1611=) c.7711A= c.10766A= (p.Glu3589=) c.920A= (p.Glu307=) c.2122A= c.154A= c.1863A= c.4257A= (n.4257A=) c.10640A= (p.Glu3547=) n.4569A= c.10769A= (p.Glu3590=)
2	g.73572643A>C	CA347285350	ALMS1	c.10385A>C (p.Glu3462Ala) c.3471A>C c.7666A>C c.4832A>C (p.Glu1611Ala) c.7711A>C c.10766A>C (p.Glu3589Ala) c.920A>C (p.Glu307Ala) c.2122A>C c.154A>C c.1863A>C c.4257A>C (n.4257A>C) c.10640A>C (p.Glu3547Ala) n.4569A>C c.10769A>C (p.Glu3590Ala)
2	g.73572643A>G	CA347285353	ALMS1	c.10385A>G (p.Glu3462Gly) c.3471A>G c.7666A>G c.4832A>G (p.Glu1611Gly) c.7711A>G c.10766A>G (p.Glu3589Gly) c.920A>G (p.Glu307Gly) c.2122A>G c.154A>G c.1863A>G c.4257A>G (n.4257A>G) c.10640A>G (p.Glu3547Gly) n.4569A>G c.10769A>G (p.Glu3590Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572643A>T	CA347285354	ALMS1	c.10385A>T (p.Glu3462Val) c.3471A>T c.7666A>T c.4832A>T (p.Glu1611Val) c.7711A>T c.10766A>T (p.Glu3589Val) c.920A>T (p.Glu307Val) c.2122A>T c.154A>T c.1863A>T c.4257A>T (n.4257A>T) c.10640A>T (p.Glu3547Val) n.4569A>T c.10769A>T (p.Glu3590Val)
2	g.73572644G>A	CA427024458	ALMS1	c.10386G>A (p.Glu3462=) c.3472G>A c.7667G>A c.4833G>A (p.Glu1611=) c.7712G>A c.10767G>A (p.Glu3589=) c.921G>A (p.Glu307=) c.2123G>A c.155G>A c.1864G>A c.4258G>A (n.4258G>A) c.10641G>A (p.Glu3547=) n.4570G>A c.10770G>A (p.Glu3590=)
2	g.73572644G>C	CA347285359	ALMS1	c.10386G>C (p.Glu3462Asp) c.3472G>C c.7667G>C c.4833G>C (p.Glu1611Asp) c.7712G>C c.10767G>C (p.Glu3589Asp) c.921G>C (p.Glu307Asp) c.2123G>C c.155G>C c.1864G>C c.4258G>C (n.4258G>C) c.10641G>C (p.Glu3547Asp) n.4570G>C c.10770G>C (p.Glu3590Asp)
2	g.73572644G>T	CA347285360	ALMS1	c.10386G>T (p.Glu3462Asp) c.3472G>T c.7667G>T c.4833G>T (p.Glu1611Asp) c.7712G>T c.10767G>T (p.Glu3589Asp) c.921G>T (p.Glu307Asp) c.2123G>T c.155G>T c.1864G>T c.4258G>T (n.4258G>T) c.10641G>T (p.Glu3547Asp) n.4570G>T c.10770G>T (p.Glu3590Asp)
2	g.73572645C>A	CA347285365	ALMS1	c.10387C>A (p.Gln3463Lys) c.3473C>A c.7668C>A c.4834C>A (p.Gln1612Lys) c.7713C>A c.10768C>A (p.Gln3590Lys) c.922C>A (p.Gln308Lys) c.2124C>A c.156C>A c.1865C>A c.4259C>A (n.4259C>A) c.10642C>A (p.Gln3548Lys) n.4571C>A c.10771C>A (p.Gln3591Lys)	gnomAD v4
2	g.73572645C=	CA1261021471	ALMS1	c.10387C= (p.Gln3463=) c.3473C= c.7668C= c.4834C= (p.Gln1612=) c.7713C= c.10768C= (p.Gln3590=) c.922C= (p.Gln308=) c.2124C= c.156C= c.1865C= c.4259C= (n.4259C=) c.10642C= (p.Gln3548=) n.4571C= c.10771C= (p.Gln3591=)
2	g.73572645C>G	CA347285367	ALMS1	c.10387C>G (p.Gln3463Glu) c.3473C>G c.7668C>G c.4834C>G (p.Gln1612Glu) c.7713C>G c.10768C>G (p.Gln3590Glu) c.922C>G (p.Gln308Glu) c.2124C>G c.156C>G c.1865C>G c.4259C>G (n.4259C>G) c.10642C>G (p.Gln3548Glu) n.4571C>G c.10771C>G (p.Gln3591Glu)	ClinVar dbSNP
2	g.73572645C>T	CA347285368	ALMS1	c.10387C>T (p.Gln3463Ter) c.3473C>T c.7668C>T c.4834C>T (p.Gln1612Ter) c.7713C>T c.10768C>T (p.Gln3590Ter) c.922C>T (p.Gln308Ter) c.2124C>T c.156C>T c.1865C>T c.4259C>T (n.4259C>T) c.10642C>T (p.Gln3548Ter) n.4571C>T c.10771C>T (p.Gln3591Ter)
2	g.73572646A>C	CA347285370	ALMS1	c.10388A>C (p.Gln3463Pro) c.3474A>C c.7669A>C c.4835A>C (p.Gln1612Pro) c.7714A>C c.10769A>C (p.Gln3590Pro) c.923A>C (p.Gln308Pro) c.2125A>C c.157A>C c.1866A>C c.4260A>C (n.4260A>C) c.10643A>C (p.Gln3548Pro) n.4572A>C c.10772A>C (p.Gln3591Pro)
2	g.73572646A>G	CA347285372	ALMS1	c.10388A>G (p.Gln3463Arg) c.3474A>G c.7669A>G c.4835A>G (p.Gln1612Arg) c.7714A>G c.10769A>G (p.Gln3590Arg) c.923A>G (p.Gln308Arg) c.2125A>G c.157A>G c.1866A>G c.4260A>G (n.4260A>G) c.10643A>G (p.Gln3548Arg) n.4572A>G c.10772A>G (p.Gln3591Arg)
2	g.73572646A>T	CA347285375	ALMS1	c.10388A>T (p.Gln3463Leu) c.3474A>T c.7669A>T c.4835A>T (p.Gln1612Leu) c.7714A>T c.10769A>T (p.Gln3590Leu) c.923A>T (p.Gln308Leu) c.2125A>T c.157A>T c.1866A>T c.4260A>T (n.4260A>T) c.10643A>T (p.Gln3548Leu) n.4572A>T c.10772A>T (p.Gln3591Leu)
2	g.73572648del	CA2499216272	ALMS1	c.10390del (p.Thr3464GlnfsTer6) c.3476del c.7671del c.4837del (p.Thr1613GlnfsTer6) c.7716del c.10771del (p.Thr3591GlnfsTer6) c.925del (p.Thr309GlnfsTer6) c.2127del c.159del c.1868del c.4262del (n.4262del) c.10645del (p.Thr3549GlnfsTer6) n.4574del c.10774del (p.Thr3592GlnfsTer6)	ClinVar dbSNP
2	g.73572647A>C	CA347285377	ALMS1	c.10389A>C (p.Gln3463His) c.3475A>C c.7670A>C c.4836A>C (p.Gln1612His) c.7715A>C c.10770A>C (p.Gln3590His) c.924A>C (p.Gln308His) c.2126A>C c.158A>C c.1867A>C c.4261A>C (n.4261A>C) c.10644A>C (p.Gln3548His) n.4573A>C c.10773A>C (p.Gln3591His)
2	g.73572647A>G	CA427024461	ALMS1	c.10389A>G (p.Gln3463=) c.3475A>G c.7670A>G c.4836A>G (p.Gln1612=) c.7715A>G c.10770A>G (p.Gln3590=) c.924A>G (p.Gln308=) c.2126A>G c.158A>G c.1867A>G c.4261A>G (n.4261A>G) c.10644A>G (p.Gln3548=) n.4573A>G c.10773A>G (p.Gln3591=)
2	g.73572647A>T	CA347285379	ALMS1	c.10389A>T (p.Gln3463His) c.3475A>T c.7670A>T c.4836A>T (p.Gln1612His) c.7715A>T c.10770A>T (p.Gln3590His) c.924A>T (p.Gln308His) c.2126A>T c.158A>T c.1867A>T c.4261A>T (n.4261A>T) c.10644A>T (p.Gln3548His) n.4573A>T c.10773A>T (p.Gln3591His)
2	g.73572648A>C	CA347285384	ALMS1	c.10390A>C (p.Thr3464Pro) c.3476A>C c.7671A>C c.4837A>C (p.Thr1613Pro) c.7716A>C c.10771A>C (p.Thr3591Pro) c.925A>C (p.Thr309Pro) c.2127A>C c.159A>C c.1868A>C c.4262A>C (n.4262A>C) c.10645A>C (p.Thr3549Pro) n.4574A>C c.10774A>C (p.Thr3592Pro)
2	g.73572648A>G	CA347285388	ALMS1	c.10390A>G (p.Thr3464Ala) c.3476A>G c.7671A>G c.4837A>G (p.Thr1613Ala) c.7716A>G c.10771A>G (p.Thr3591Ala) c.925A>G (p.Thr309Ala) c.2127A>G c.159A>G c.1868A>G c.4262A>G (n.4262A>G) c.10645A>G (p.Thr3549Ala) n.4574A>G c.10774A>G (p.Thr3592Ala)	ClinVar
2	g.73572648A>T	CA347285386	ALMS1	c.10390A>T (p.Thr3464Ser) c.3476A>T c.7671A>T c.4837A>T (p.Thr1613Ser) c.7716A>T c.10771A>T (p.Thr3591Ser) c.925A>T (p.Thr309Ser) c.2127A>T c.159A>T c.1868A>T c.4262A>T (n.4262A>T) c.10645A>T (p.Thr3549Ser) n.4574A>T c.10774A>T (p.Thr3592Ser)
2	g.73572648_73572649delinsAC	CA1261021474	ALMS1	c.10390_10391delinsAC (p.Thr3464=) c.3476_3477delinsAC c.7671_7672delinsAC c.4837_4838delinsAC (p.Thr1613=) c.7716_7717delinsAC c.10771_10772delinsAC (p.Thr3591=) c.925_926delinsAC (p.Thr309=) c.2127_2128delinsAC c.159_160delinsAC c.1868_1869delinsAC c.4262_4263delinsAC (n.4262_4263delinsAC) c.10645_10646delinsAC (p.Thr3549=) n.4574_4575delinsAC c.10774_10775delinsAC (p.Thr3592=)
2	g.73572649del	CA252953	ALMS1	c.10391del (p.Thr3464LysfsTer6) c.3477del c.7672del c.4838del (p.Thr1613LysfsTer6) c.7717del c.10772del (p.Thr3591LysfsTer6) c.926del (p.Thr309LysfsTer6) c.2128del c.160del c.1869del c.4263del (n.4263del) c.10646del (p.Thr3549LysfsTer6) n.4575del c.10775del (p.Thr3592LysfsTer6)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572649C>A	CA1715055	ALMS1	c.10391C>A (p.Thr3464Lys) c.3477C>A c.7672C>A c.4838C>A (p.Thr1613Lys) c.7717C>A c.10772C>A (p.Thr3591Lys) c.926C>A (p.Thr309Lys) c.2128C>A c.160C>A c.1869C>A c.4263C>A (n.4263C>A) c.10646C>A (p.Thr3549Lys) n.4575C>A c.10775C>A (p.Thr3592Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572649C=	CA1261021484	ALMS1	c.10391C= (p.Thr3464=) c.3477C= c.7672C= c.4838C= (p.Thr1613=) c.7717C= c.10772C= (p.Thr3591=) c.926C= (p.Thr309=) c.2128C= c.160C= c.1869C= c.4263C= (n.4263C=) c.10646C= (p.Thr3549=) n.4575C= c.10775C= (p.Thr3592=)
2	g.73572649C>G	CA347285394	ALMS1	c.10391C>G (p.Thr3464Arg) c.3477C>G c.7672C>G c.4838C>G (p.Thr1613Arg) c.7717C>G c.10772C>G (p.Thr3591Arg) c.926C>G (p.Thr309Arg) c.2128C>G c.160C>G c.1869C>G c.4263C>G (n.4263C>G) c.10646C>G (p.Thr3549Arg) n.4575C>G c.10775C>G (p.Thr3592Arg)	gnomAD v4
2	g.73572649C>T	CA347285395	ALMS1	c.10391C>T (p.Thr3464Ile) c.3477C>T c.7672C>T c.4838C>T (p.Thr1613Ile) c.7717C>T c.10772C>T (p.Thr3591Ile) c.926C>T (p.Thr309Ile) c.2128C>T c.160C>T c.1869C>T c.4263C>T (n.4263C>T) c.10646C>T (p.Thr3549Ile) n.4575C>T c.10775C>T (p.Thr3592Ile)	ClinVar dbSNP gnomAD v4
2	g.73572649_73572650delinsCA	CA1261021489	ALMS1	c.10391_10392delinsCA (p.Thr3464=) c.3477_3478delinsCA c.7672_7673delinsCA c.4838_4839delinsCA (p.Thr1613=) c.7717_7718delinsCA c.10772_10773delinsCA (p.Thr3591=) c.926_927delinsCA (p.Thr309=) c.2128_2129delinsCA c.160_161delinsCA c.1869_1870delinsCA c.4263_4264delinsCA (n.4263_4264delinsCA) c.10646_10647delinsCA (p.Thr3549=) n.4575_4576delinsCA c.10775_10776delinsCA (p.Thr3592=)
2	g.73572650A>C	CA427024473	ALMS1	c.10392A>C (p.Thr3464=) c.3478A>C c.7673A>C c.4839A>C (p.Thr1613=) c.7718A>C c.10773A>C (p.Thr3591=) c.927A>C (p.Thr309=) c.2129A>C c.161A>C c.1870A>C c.4264A>C (n.4264A>C) c.10647A>C (p.Thr3549=) n.4576A>C c.10776A>C (p.Thr3592=)
2	g.73572650A>G	CA427024476	ALMS1	c.10392A>G (p.Thr3464=) c.3478A>G c.7673A>G c.4839A>G (p.Thr1613=) c.7718A>G c.10773A>G (p.Thr3591=) c.927A>G (p.Thr309=) c.2129A>G c.161A>G c.1870A>G c.4264A>G (n.4264A>G) c.10647A>G (p.Thr3549=) n.4576A>G c.10776A>G (p.Thr3592=)
2	g.73572650A>T	CA427024478	ALMS1	c.10392A>T (p.Thr3464=) c.3478A>T c.7673A>T c.4839A>T (p.Thr1613=) c.7718A>T c.10773A>T (p.Thr3591=) c.927A>T (p.Thr309=) c.2129A>T c.161A>T c.1870A>T c.4264A>T (n.4264A>T) c.10647A>T (p.Thr3549=) n.4576A>T c.10776A>T (p.Thr3592=)	gnomAD v4
2	g.73572651del	CA347285399	ALMS1	c.10393del (p.Thr3465LeufsTer5) c.3479del c.7674del c.4840del (p.Thr1614LeufsTer5) c.7719del c.10774del (p.Thr3592LeufsTer5) c.928del (p.Thr310LeufsTer5) c.2130del c.162del c.1871del c.4265del (n.4265del) c.10648del (p.Thr3550LeufsTer5) n.4577del c.10777del (p.Thr3593LeufsTer5)	dbSNP
2	g.73572651A=	CA1261021498	ALMS1	c.10393A= (p.Thr3465=) c.3479A= c.7674A= c.4840A= (p.Thr1614=) c.7719A= c.10774A= (p.Thr3592=) c.928A= (p.Thr310=) c.2130A= c.162A= c.1871A= c.4265A= (n.4265A=) c.10648A= (p.Thr3550=) n.4577A= c.10777A= (p.Thr3593=)
2	g.73572651A>C	CA1715056	ALMS1	c.10393A>C (p.Thr3465Pro) c.3479A>C c.7674A>C c.4840A>C (p.Thr1614Pro) c.7719A>C c.10774A>C (p.Thr3592Pro) c.928A>C (p.Thr310Pro) c.2130A>C c.162A>C c.1871A>C c.4265A>C (n.4265A>C) c.10648A>C (p.Thr3550Pro) n.4577A>C c.10777A>C (p.Thr3593Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572651A>G	CA1715057	ALMS1	c.10393A>G (p.Thr3465Ala) c.3479A>G c.7674A>G c.4840A>G (p.Thr1614Ala) c.7719A>G c.10774A>G (p.Thr3592Ala) c.928A>G (p.Thr310Ala) c.2130A>G c.162A>G c.1871A>G c.4265A>G (n.4265A>G) c.10648A>G (p.Thr3550Ala) n.4577A>G c.10777A>G (p.Thr3593Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572651A>T	CA347285406	ALMS1	c.10393A>T (p.Thr3465Ser) c.3479A>T c.7674A>T c.4840A>T (p.Thr1614Ser) c.7719A>T c.10774A>T (p.Thr3592Ser) c.928A>T (p.Thr310Ser) c.2130A>T c.162A>T c.1871A>T c.4265A>T (n.4265A>T) c.10648A>T (p.Thr3550Ser) n.4577A>T c.10777A>T (p.Thr3593Ser)
2	g.73572652C>A	CA347285410	ALMS1	c.10394C>A (p.Thr3465Asn) c.3480C>A c.7675C>A c.4841C>A (p.Thr1614Asn) c.7720C>A c.10775C>A (p.Thr3592Asn) c.929C>A (p.Thr310Asn) c.2131C>A c.163C>A c.1872C>A c.4266C>A (n.4266C>A) c.10649C>A (p.Thr3550Asn) n.4578C>A c.10778C>A (p.Thr3593Asn)
2	g.73572652C>G	CA347285412	ALMS1	c.10394C>G (p.Thr3465Ser) c.3480C>G c.7675C>G c.4841C>G (p.Thr1614Ser) c.7720C>G c.10775C>G (p.Thr3592Ser) c.929C>G (p.Thr310Ser) c.2131C>G c.163C>G c.1872C>G c.4266C>G (n.4266C>G) c.10649C>G (p.Thr3550Ser) n.4578C>G c.10778C>G (p.Thr3593Ser)
2	g.73572652C>T	CA347285415	ALMS1	c.10394C>T (p.Thr3465Ile) c.3480C>T c.7675C>T c.4841C>T (p.Thr1614Ile) c.7720C>T c.10775C>T (p.Thr3592Ile) c.929C>T (p.Thr310Ile) c.2131C>T c.163C>T c.1872C>T c.4266C>T (n.4266C>T) c.10649C>T (p.Thr3550Ile) n.4578C>T c.10778C>T (p.Thr3593Ile)
2	g.73572653T>A	CA427024480	ALMS1	c.10395T>A (p.Thr3465=) c.3481T>A c.7676T>A c.4842T>A (p.Thr1614=) c.7721T>A c.10776T>A (p.Thr3592=) c.930T>A (p.Thr310=) c.2132T>A c.164T>A c.1873T>A c.4267T>A (n.4267T>A) c.10650T>A (p.Thr3550=) n.4579T>A c.10779T>A (p.Thr3593=)
2	g.73572653T>C	CA427024482	ALMS1	c.10395T>C (p.Thr3465=) c.3481T>C c.7676T>C c.4842T>C (p.Thr1614=) c.7721T>C c.10776T>C (p.Thr3592=) c.930T>C (p.Thr310=) c.2132T>C c.164T>C c.1873T>C c.4267T>C (n.4267T>C) c.10650T>C (p.Thr3550=) n.4579T>C c.10779T>C (p.Thr3593=)
2	g.73572653T>G	CA427024481	ALMS1	c.10395T>G (p.Thr3465=) c.3481T>G c.7676T>G c.4842T>G (p.Thr1614=) c.7721T>G c.10776T>G (p.Thr3592=) c.930T>G (p.Thr310=) c.2132T>G c.164T>G c.1873T>G c.4267T>G (n.4267T>G) c.10650T>G (p.Thr3550=) n.4579T>G c.10779T>G (p.Thr3593=)	ClinVar dbSNP
2	g.73572654C>A	CA347285422	ALMS1	c.10396C>A (p.Gln3466Lys) c.3482C>A c.7677C>A c.4843C>A (p.Gln1615Lys) c.7722C>A c.10777C>A (p.Gln3593Lys) c.931C>A (p.Gln311Lys) c.2133C>A c.165C>A c.1874C>A c.4268C>A (n.4268C>A) c.10651C>A (p.Gln3551Lys) n.4580C>A c.10780C>A (p.Gln3594Lys)
2	g.73572654C>G	CA347285423	ALMS1	c.10396C>G (p.Gln3466Glu) c.3482C>G c.7677C>G c.4843C>G (p.Gln1615Glu) c.7722C>G c.10777C>G (p.Gln3593Glu) c.931C>G (p.Gln311Glu) c.2133C>G c.165C>G c.1874C>G c.4268C>G (n.4268C>G) c.10651C>G (p.Gln3551Glu) n.4580C>G c.10780C>G (p.Gln3594Glu)
2	g.73572654C>T	CA347285419	ALMS1	c.10396C>T (p.Gln3466Ter) c.3482C>T c.7677C>T c.4843C>T (p.Gln1615Ter) c.7722C>T c.10777C>T (p.Gln3593Ter) c.931C>T (p.Gln311Ter) c.2133C>T c.165C>T c.1874C>T c.4268C>T (n.4268C>T) c.10651C>T (p.Gln3551Ter) n.4580C>T c.10780C>T (p.Gln3594Ter)
2	g.73572655A=	CA1261021507	ALMS1	c.10397A= (p.Gln3466=) c.3483A= c.7678A= c.4844A= (p.Gln1615=) c.7723A= c.10778A= (p.Gln3593=) c.932A= (p.Gln311=) c.2134A= c.166A= c.1875A= c.4269A= (n.4269A=) c.10652A= (p.Gln3551=) n.4581A= c.10781A= (p.Gln3594=)
2	g.73572655A>C	CA347285429	ALMS1	c.10397A>C (p.Gln3466Pro) c.3483A>C c.7678A>C c.4844A>C (p.Gln1615Pro) c.7723A>C c.10778A>C (p.Gln3593Pro) c.932A>C (p.Gln311Pro) c.2134A>C c.166A>C c.1875A>C c.4269A>C (n.4269A>C) c.10652A>C (p.Gln3551Pro) n.4581A>C c.10781A>C (p.Gln3594Pro)	gnomAD v4
2	g.73572655A>G	CA50386440	ALMS1	c.10397A>G (p.Gln3466Arg) c.3483A>G c.7678A>G c.4844A>G (p.Gln1615Arg) c.7723A>G c.10778A>G (p.Gln3593Arg) c.932A>G (p.Gln311Arg) c.2134A>G c.166A>G c.1875A>G c.4269A>G (n.4269A>G) c.10652A>G (p.Gln3551Arg) n.4581A>G c.10781A>G (p.Gln3594Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.73572655A>T	CA347285428	ALMS1	c.10397A>T (p.Gln3466Leu) c.3483A>T c.7678A>T c.4844A>T (p.Gln1615Leu) c.7723A>T c.10778A>T (p.Gln3593Leu) c.932A>T (p.Gln311Leu) c.2134A>T c.166A>T c.1875A>T c.4269A>T (n.4269A>T) c.10652A>T (p.Gln3551Leu) n.4581A>T c.10781A>T (p.Gln3594Leu)
2	g.73572656G>A	CA427024489	ALMS1	c.10398G>A (p.Gln3466=) c.3484G>A c.7679G>A c.4845G>A (p.Gln1615=) c.7724G>A c.10779G>A (p.Gln3593=) c.933G>A (p.Gln311=) c.2135G>A c.167G>A c.1876G>A c.4270G>A (n.4270G>A) c.10653G>A (p.Gln3551=) n.4582G>A c.10782G>A (p.Gln3594=)
2	g.73572656G>C	CA347285431	ALMS1	c.10398G>C (p.Gln3466His) c.3484G>C c.7679G>C c.4845G>C (p.Gln1615His) c.7724G>C c.10779G>C (p.Gln3593His) c.933G>C (p.Gln311His) c.2135G>C c.167G>C c.1876G>C c.4270G>C (n.4270G>C) c.10653G>C (p.Gln3551His) n.4582G>C c.10782G>C (p.Gln3594His)
2	g.73572656G>T	CA347285433	ALMS1	c.10398G>T (p.Gln3466His) c.3484G>T c.7679G>T c.4845G>T (p.Gln1615His) c.7724G>T c.10779G>T (p.Gln3593His) c.933G>T (p.Gln311His) c.2135G>T c.167G>T c.1876G>T c.4270G>T (n.4270G>T) c.10653G>T (p.Gln3551His) n.4582G>T c.10782G>T (p.Gln3594His)	gnomAD v4
2	g.73572657C>A	CA347285437	ALMS1	c.10399C>A (p.His3467Asn) c.3485C>A c.7680C>A c.4846C>A (p.His1616Asn) c.7725C>A c.10780C>A (p.His3594Asn) c.934C>A (p.His312Asn) c.2136C>A c.168C>A c.1877C>A c.4271C>A (n.4271C>A) c.10654C>A (p.His3552Asn) n.4583C>A c.10783C>A (p.His3595Asn)
2	g.73572657C>G	CA347285440	ALMS1	c.10399C>G (p.His3467Asp) c.3485C>G c.7680C>G c.4846C>G (p.His1616Asp) c.7725C>G c.10780C>G (p.His3594Asp) c.934C>G (p.His312Asp) c.2136C>G c.168C>G c.1877C>G c.4271C>G (n.4271C>G) c.10654C>G (p.His3552Asp) n.4583C>G c.10783C>G (p.His3595Asp)
2	g.73572657C>T	CA347285442	ALMS1	c.10399C>T (p.His3467Tyr) c.3485C>T c.7680C>T c.4846C>T (p.His1616Tyr) c.7725C>T c.10780C>T (p.His3594Tyr) c.934C>T (p.His312Tyr) c.2136C>T c.168C>T c.1877C>T c.4271C>T (n.4271C>T) c.10654C>T (p.His3552Tyr) n.4583C>T c.10783C>T (p.His3595Tyr)
2	g.73572658A=	CA1261021513	ALMS1	c.10400A= (p.His3467=) c.3486A= c.7681A= c.4847A= (p.His1616=) c.7726A= c.10781A= (p.His3594=) c.935A= (p.His312=) c.2137A= c.169A= c.1878A= c.4272A= (n.4272A=) c.10655A= (p.His3552=) n.4584A= c.10784A= (p.His3595=)
2	g.73572658A>C	CA347285446	ALMS1	c.10400A>C (p.His3467Pro) c.3486A>C c.7681A>C c.4847A>C (p.His1616Pro) c.7726A>C c.10781A>C (p.His3594Pro) c.935A>C (p.His312Pro) c.2137A>C c.169A>C c.1878A>C c.4272A>C (n.4272A>C) c.10655A>C (p.His3552Pro) n.4584A>C c.10784A>C (p.His3595Pro)
2	g.73572658A>G	CA347285448	ALMS1	c.10400A>G (p.His3467Arg) c.3486A>G c.7681A>G c.4847A>G (p.His1616Arg) c.7726A>G c.10781A>G (p.His3594Arg) c.935A>G (p.His312Arg) c.2137A>G c.169A>G c.1878A>G c.4272A>G (n.4272A>G) c.10655A>G (p.His3552Arg) n.4584A>G c.10784A>G (p.His3595Arg)	dbSNP gnomAD v3 gnomAD v4
2	g.73572658A>T	CA347285450	ALMS1	c.10400A>T (p.His3467Leu) c.3486A>T c.7681A>T c.4847A>T (p.His1616Leu) c.7726A>T c.10781A>T (p.His3594Leu) c.935A>T (p.His312Leu) c.2137A>T c.169A>T c.1878A>T c.4272A>T (n.4272A>T) c.10655A>T (p.His3552Leu) n.4584A>T c.10784A>T (p.His3595Leu)
2	g.73572659C>A	CA347285454	ALMS1	c.10401C>A (p.His3467Gln) c.3487C>A c.7682C>A c.4848C>A (p.His1616Gln) c.7727C>A c.10782C>A (p.His3594Gln) c.936C>A (p.His312Gln) c.2138C>A c.170C>A c.1879C>A c.4273C>A (n.4273C>A) c.10656C>A (p.His3552Gln) n.4585C>A c.10785C>A (p.His3595Gln)
2	g.73572659C>G	CA347285456	ALMS1	c.10401C>G (p.His3467Gln) c.3487C>G c.7682C>G c.4848C>G (p.His1616Gln) c.7727C>G c.10782C>G (p.His3594Gln) c.936C>G (p.His312Gln) c.2138C>G c.170C>G c.1879C>G c.4273C>G (n.4273C>G) c.10656C>G (p.His3552Gln) n.4585C>G c.10785C>G (p.His3595Gln)
2	g.73572659C>T	CA427024493	ALMS1	c.10401C>T (p.His3467=) c.3487C>T c.7682C>T c.4848C>T (p.His1616=) c.7727C>T c.10782C>T (p.His3594=) c.936C>T (p.His312=) c.2138C>T c.170C>T c.1879C>T c.4273C>T (n.4273C>T) c.10656C>T (p.His3552=) n.4585C>T c.10785C>T (p.His3595=)	ClinVar
2	g.73572659_73572669del	CA2697548293	ALMS1	c.10401_10411del (p.Thr3468GlufsTer2) c.3487_3497del c.7682_7692del c.4848_4858del (p.Thr1617GlufsTer2) c.7727_7737del c.10782_10792del (p.Thr3595GlufsTer2) c.936_946del (p.Thr313GlufsTer2) c.2138_2148del c.170_180del c.1879_1889del c.4273_4283del (n.4273_4283del) c.10656_10666del (p.Thr3553GlufsTer2) n.4585_4595del c.10785_10795del (p.Thr3596GlufsTer2)	ClinVar
2	g.73572660A>C	CA347285464	ALMS1	c.10402A>C (p.Thr3468Pro) c.3488A>C c.7683A>C c.4849A>C (p.Thr1617Pro) c.7728A>C c.10783A>C (p.Thr3595Pro) c.937A>C (p.Thr313Pro) c.2139A>C c.171A>C c.1880A>C c.4274A>C (n.4274A>C) c.10657A>C (p.Thr3553Pro) n.4586A>C c.10786A>C (p.Thr3596Pro)
2	g.73572660A>G	CA347285460	ALMS1	c.10402A>G (p.Thr3468Ala) c.3488A>G c.7683A>G c.4849A>G (p.Thr1617Ala) c.7728A>G c.10783A>G (p.Thr3595Ala) c.937A>G (p.Thr313Ala) c.2139A>G c.171A>G c.1880A>G c.4274A>G (n.4274A>G) c.10657A>G (p.Thr3553Ala) n.4586A>G c.10786A>G (p.Thr3596Ala)
2	g.73572660A>T	CA347285462	ALMS1	c.10402A>T (p.Thr3468Ser) c.3488A>T c.7683A>T c.4849A>T (p.Thr1617Ser) c.7728A>T c.10783A>T (p.Thr3595Ser) c.937A>T (p.Thr313Ser) c.2139A>T c.171A>T c.1880A>T c.4274A>T (n.4274A>T) c.10657A>T (p.Thr3553Ser) n.4586A>T c.10786A>T (p.Thr3596Ser)	ClinVar
2	g.73572661C>A	CA347285468	ALMS1	c.10403C>A (p.Thr3468Asn) c.3489C>A c.7684C>A c.4850C>A (p.Thr1617Asn) c.7729C>A c.10784C>A (p.Thr3595Asn) c.938C>A (p.Thr313Asn) c.2140C>A c.172C>A c.1881C>A c.4275C>A (n.4275C>A) c.10658C>A (p.Thr3553Asn) n.4587C>A c.10787C>A (p.Thr3596Asn)
2	g.73572661C>G	CA347285470	ALMS1	c.10403C>G (p.Thr3468Ser) c.3489C>G c.7684C>G c.4850C>G (p.Thr1617Ser) c.7729C>G c.10784C>G (p.Thr3595Ser) c.938C>G (p.Thr313Ser) c.2140C>G c.172C>G c.1881C>G c.4275C>G (n.4275C>G) c.10658C>G (p.Thr3553Ser) n.4587C>G c.10787C>G (p.Thr3596Ser)
2	g.73572661C>T	CA347285471	ALMS1	c.10403C>T (p.Thr3468Ile) c.3489C>T c.7684C>T c.4850C>T (p.Thr1617Ile) c.7729C>T c.10784C>T (p.Thr3595Ile) c.938C>T (p.Thr313Ile) c.2140C>T c.172C>T c.1881C>T c.4275C>T (n.4275C>T) c.10658C>T (p.Thr3553Ile) n.4587C>T c.10787C>T (p.Thr3596Ile)
2	g.73572661_73572663del	CA913090898	ALMS1	c.10403_10405del (p.Thr3468_Val3469delinsMet) c.3489_3491del c.7684_7686del c.4850_4852del (p.Thr1617_Val1618delinsMet) c.7729_7731del c.10784_10786del (p.Thr3595_Val3596delinsMet) c.938_940del (p.Thr313_Val314delinsMet) c.2140_2142del c.172_174del c.1881_1883del c.4275_4277del (n.4275_4277del) c.10658_10660del (p.Thr3553_Val3554delinsMet) n.4587_4589del c.10787_10789del (p.Thr3596_Val3597delinsMet)
2	g.73572661_73572663delinsCTG	CA1261021517	ALMS1	c.10403_10405delinsCTG (p.Thr3468=) c.3489_3491delinsCTG c.7684_7686delinsCTG c.4850_4852delinsCTG (p.Thr1617=) c.7729_7731delinsCTG c.10784_10786delinsCTG (p.Thr3595=) c.938_940delinsCTG (p.Thr313=) c.2140_2142delinsCTG c.172_174delinsCTG c.1881_1883delinsCTG c.4275_4277delinsCTG (n.4275_4277delinsCTG) c.10658_10660delinsCTG (p.Thr3553=) n.4587_4589delinsCTG c.10787_10789delinsCTG (p.Thr3596=)
2	g.73572662T>A	CA1715058	ALMS1	c.10404T>A (p.Thr3468=) c.3490T>A c.7685T>A c.4851T>A (p.Thr1617=) c.7730T>A c.10785T>A (p.Thr3595=) c.939T>A (p.Thr313=) c.2141T>A c.173T>A c.1882T>A c.4276T>A (n.4276T>A) c.10659T>A (p.Thr3553=) n.4588T>A c.10788T>A (p.Thr3596=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73572662T>C	CA427024508	ALMS1	c.10404T>C (p.Thr3468=) c.3490T>C c.7685T>C c.4851T>C (p.Thr1617=) c.7730T>C c.10785T>C (p.Thr3595=) c.939T>C (p.Thr313=) c.2141T>C c.173T>C c.1882T>C c.4276T>C (n.4276T>C) c.10659T>C (p.Thr3553=) n.4588T>C c.10788T>C (p.Thr3596=)	dbSNP gnomAD v2 gnomAD v4
2	g.73572662T>G	CA427024504	ALMS1	c.10404T>G (p.Thr3468=) c.3490T>G c.7685T>G c.4851T>G (p.Thr1617=) c.7730T>G c.10785T>G (p.Thr3595=) c.939T>G (p.Thr313=) c.2141T>G c.173T>G c.1882T>G c.4276T>G (n.4276T>G) c.10659T>G (p.Thr3553=) n.4588T>G c.10788T>G (p.Thr3596=)
2	g.73572662T=	CA1261021536	ALMS1	c.10404T= (p.Thr3468=) c.3490T= c.7685T= c.4851T= (p.Thr1617=) c.7730T= c.10785T= (p.Thr3595=) c.939T= (p.Thr313=) c.2141T= c.173T= c.1882T= c.4276T= (n.4276T=) c.10659T= (p.Thr3553=) n.4588T= c.10788T= (p.Thr3596=)
2	g.73572664_73572665del	CA534123607	ALMS1	c.10406_10407del (p.Val3469GlufsTer4) c.3492_3493del c.7687_7688del c.4853_4854del (p.Val1618GlufsTer4) c.7732_7733del c.10787_10788del (p.Val3596GlufsTer4) c.941_942del (p.Val314GlufsTer4) c.2143_2144del c.175_176del c.1884_1885del c.4278_4279del (n.4278_4279del) c.10661_10662del (p.Val3554GlufsTer4) n.4590_4591del c.10790_10791del (p.Val3597GlufsTer4)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572663G>A	CA347285479	ALMS1	c.10405G>A (p.Val3469Met) c.3491G>A c.7686G>A c.4852G>A (p.Val1618Met) c.7731G>A c.10786G>A (p.Val3596Met) c.940G>A (p.Val314Met) c.2142G>A c.174G>A c.1883G>A c.4277G>A (n.4277G>A) c.10660G>A (p.Val3554Met) n.4589G>A c.10789G>A (p.Val3597Met)
2	g.73572663G>C	CA347285480	ALMS1	c.10405G>C (p.Val3469Leu) c.3491G>C c.7686G>C c.4852G>C (p.Val1618Leu) c.7731G>C c.10786G>C (p.Val3596Leu) c.940G>C (p.Val314Leu) c.2142G>C c.174G>C c.1883G>C c.4277G>C (n.4277G>C) c.10660G>C (p.Val3554Leu) n.4589G>C c.10789G>C (p.Val3597Leu)	dbSNP gnomAD v3 gnomAD v4
2	g.73572663G=	CA1261021541	ALMS1	c.10405G= (p.Val3469=) c.3491G= c.7686G= c.4852G= (p.Val1618=) c.7731G= c.10786G= (p.Val3596=) c.940G= (p.Val314=) c.2142G= c.174G= c.1883G= c.4277G= (n.4277G=) c.10660G= (p.Val3554=) n.4589G= c.10789G= (p.Val3597=)
2	g.73572663G>T	CA347285483	ALMS1	c.10405G>T (p.Val3469Leu) c.3491G>T c.7686G>T c.4852G>T (p.Val1618Leu) c.7731G>T c.10786G>T (p.Val3596Leu) c.940G>T (p.Val314Leu) c.2142G>T c.174G>T c.1883G>T c.4277G>T (n.4277G>T) c.10660G>T (p.Val3554Leu) n.4589G>T c.10789G>T (p.Val3597Leu)
2	g.73572664T>A	CA347285487	ALMS1	c.10406T>A (p.Val3469Glu) c.3492T>A c.7687T>A c.4853T>A (p.Val1618Glu) c.7732T>A c.10787T>A (p.Val3596Glu) c.941T>A (p.Val314Glu) c.2143T>A c.175T>A c.1884T>A c.4278T>A (n.4278T>A) c.10661T>A (p.Val3554Glu) n.4590T>A c.10790T>A (p.Val3597Glu)
2	g.73572664T>C	CA347285489	ALMS1	c.10406T>C (p.Val3469Ala) c.3492T>C c.7687T>C c.4853T>C (p.Val1618Ala) c.7732T>C c.10787T>C (p.Val3596Ala) c.941T>C (p.Val314Ala) c.2143T>C c.175T>C c.1884T>C c.4278T>C (n.4278T>C) c.10661T>C (p.Val3554Ala) n.4590T>C c.10790T>C (p.Val3597Ala)
2	g.73572664T>G	CA347285491	ALMS1	c.10406T>G (p.Val3469Gly) c.3492T>G c.7687T>G c.4853T>G (p.Val1618Gly) c.7732T>G c.10787T>G (p.Val3596Gly) c.941T>G (p.Val314Gly) c.2143T>G c.175T>G c.1884T>G c.4278T>G (n.4278T>G) c.10661T>G (p.Val3554Gly) n.4590T>G c.10790T>G (p.Val3597Gly)
2	g.73572665G>A	CA1715060	ALMS1	c.10407G>A (p.Val3469=) c.3493G>A c.7688G>A c.4854G>A (p.Val1618=) c.7733G>A c.10788G>A (p.Val3596=) c.942G>A (p.Val314=) c.2144G>A c.176G>A c.1885G>A c.4279G>A (n.4279G>A) c.10662G>A (p.Val3554=) n.4591G>A c.10791G>A (p.Val3597=)	ClinVar dbSNP ExAC gnomAD v2
2	g.73572665G>C	CA1715059	ALMS1	c.10407G>C (p.Val3469=) c.3493G>C c.7688G>C c.4854G>C (p.Val1618=) c.7733G>C c.10788G>C (p.Val3596=) c.942G>C (p.Val314=) c.2144G>C c.176G>C c.1885G>C c.4279G>C (n.4279G>C) c.10662G>C (p.Val3554=) n.4591G>C c.10791G>C (p.Val3597=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572665G=	CA1261021546	ALMS1	c.10407G= (p.Val3469=) c.3493G= c.7688G= c.4854G= (p.Val1618=) c.7733G= c.10788G= (p.Val3596=) c.942G= (p.Val314=) c.2144G= c.176G= c.1885G= c.4279G= (n.4279G=) c.10662G= (p.Val3554=) n.4591G= c.10791G= (p.Val3597=)
2	g.73572665G>T	CA427024512	ALMS1	c.10407G>T (p.Val3469=) c.3493G>T c.7688G>T c.4854G>T (p.Val1618=) c.7733G>T c.10788G>T (p.Val3596=) c.942G>T (p.Val314=) c.2144G>T c.176G>T c.1885G>T c.4279G>T (n.4279G>T) c.10662G>T (p.Val3554=) n.4591G>T c.10791G>T (p.Val3597=)
2	g.73572666A>C	CA347285502	ALMS1	c.10408A>C (p.Ser3470Arg) c.3494A>C c.7689A>C c.4855A>C (p.Ser1619Arg) c.7734A>C c.10789A>C (p.Ser3597Arg) c.943A>C (p.Ser315Arg) c.2145A>C c.177A>C c.1886A>C c.4280A>C (n.4280A>C) c.10663A>C (p.Ser3555Arg) n.4592A>C c.10792A>C (p.Ser3598Arg)
2	g.73572666A>G	CA347285504	ALMS1	c.10408A>G (p.Ser3470Gly) c.3494A>G c.7689A>G c.4855A>G (p.Ser1619Gly) c.7734A>G c.10789A>G (p.Ser3597Gly) c.943A>G (p.Ser315Gly) c.2145A>G c.177A>G c.1886A>G c.4280A>G (n.4280A>G) c.10663A>G (p.Ser3555Gly) n.4592A>G c.10792A>G (p.Ser3598Gly)	gnomAD v4
2	g.73572666A>T	CA347285500	ALMS1	c.10408A>T (p.Ser3470Cys) c.3494A>T c.7689A>T c.4855A>T (p.Ser1619Cys) c.7734A>T c.10789A>T (p.Ser3597Cys) c.943A>T (p.Ser315Cys) c.2145A>T c.177A>T c.1886A>T c.4280A>T (n.4280A>T) c.10663A>T (p.Ser3555Cys) n.4592A>T c.10792A>T (p.Ser3598Cys)
2	g.73572667G>A	CA347285507	ALMS1	c.10409G>A (p.Ser3470Asn) c.3495G>A c.7690G>A c.4856G>A (p.Ser1619Asn) c.7735G>A c.10790G>A (p.Ser3597Asn) c.944G>A (p.Ser315Asn) c.2146G>A c.178G>A c.1887G>A c.4281G>A (n.4281G>A) c.10664G>A (p.Ser3555Asn) n.4593G>A c.10793G>A (p.Ser3598Asn)	dbSNP gnomAD v4
2	g.73572667G>C	CA347285510	ALMS1	c.10409G>C (p.Ser3470Thr) c.3495G>C c.7690G>C c.4856G>C (p.Ser1619Thr) c.7735G>C c.10790G>C (p.Ser3597Thr) c.944G>C (p.Ser315Thr) c.2146G>C c.178G>C c.1887G>C c.4281G>C (n.4281G>C) c.10664G>C (p.Ser3555Thr) n.4593G>C c.10793G>C (p.Ser3598Thr)
2	g.73572667G=	CA1261021554	ALMS1	c.10409G= (p.Ser3470=) c.3495G= c.7690G= c.4856G= (p.Ser1619=) c.7735G= c.10790G= (p.Ser3597=) c.944G= (p.Ser315=) c.2146G= c.178G= c.1887G= c.4281G= (n.4281G=) c.10664G= (p.Ser3555=) n.4593G= c.10793G= (p.Ser3598=)
2	g.73572667G>T	CA347285512	ALMS1	c.10409G>T (p.Ser3470Ile) c.3495G>T c.7690G>T c.4856G>T (p.Ser1619Ile) c.7735G>T c.10790G>T (p.Ser3597Ile) c.944G>T (p.Ser315Ile) c.2146G>T c.178G>T c.1887G>T c.4281G>T (n.4281G>T) c.10664G>T (p.Ser3555Ile) n.4593G>T c.10793G>T (p.Ser3598Ile)
2	g.73572668T>A	CA347285514	ALMS1	c.10410T>A (p.Ser3470Arg) c.3496T>A c.7691T>A c.4857T>A (p.Ser1619Arg) c.7736T>A c.10791T>A (p.Ser3597Arg) c.945T>A (p.Ser315Arg) c.2147T>A c.179T>A c.1888T>A c.4282T>A (n.4282T>A) c.10665T>A (p.Ser3555Arg) n.4594T>A c.10794T>A (p.Ser3598Arg)	gnomAD v4
2	g.73572668T>C	CA427024518	ALMS1	c.10410T>C (p.Ser3470=) c.3496T>C c.7691T>C c.4857T>C (p.Ser1619=) c.7736T>C c.10791T>C (p.Ser3597=) c.945T>C (p.Ser315=) c.2147T>C c.179T>C c.1888T>C c.4282T>C (n.4282T>C) c.10665T>C (p.Ser3555=) n.4594T>C c.10794T>C (p.Ser3598=)
2	g.73572668T>G	CA347285516	ALMS1	c.10410T>G (p.Ser3470Arg) c.3496T>G c.7691T>G c.4857T>G (p.Ser1619Arg) c.7736T>G c.10791T>G (p.Ser3597Arg) c.945T>G (p.Ser315Arg) c.2147T>G c.179T>G c.1888T>G c.4282T>G (n.4282T>G) c.10665T>G (p.Ser3555Arg) n.4594T>G c.10794T>G (p.Ser3598Arg)
2	g.73572669T>A	CA347285519	ALMS1	c.10411T>A (p.Leu3471Met) c.3497T>A c.7692T>A c.4858T>A (p.Leu1620Met) c.7737T>A c.10792T>A (p.Leu3598Met) c.946T>A (p.Leu316Met) c.2148T>A c.180T>A c.1889T>A c.4283T>A (n.4283T>A) c.10666T>A (p.Leu3556Met) n.4595T>A c.10795T>A (p.Leu3599Met)
2	g.73572669T>C	CA427024520	ALMS1	c.10411T>C (p.Leu3471=) c.3497T>C c.7692T>C c.4858T>C (p.Leu1620=) c.7737T>C c.10792T>C (p.Leu3598=) c.946T>C (p.Leu316=) c.2148T>C c.180T>C c.1889T>C c.4283T>C (n.4283T>C) c.10666T>C (p.Leu3556=) n.4595T>C c.10795T>C (p.Leu3599=)	ClinVar dbSNP
2	g.73572669T>G	CA347285522	ALMS1	c.10411T>G (p.Leu3471Val) c.3497T>G c.7692T>G c.4858T>G (p.Leu1620Val) c.7737T>G c.10792T>G (p.Leu3598Val) c.946T>G (p.Leu316Val) c.2148T>G c.180T>G c.1889T>G c.4283T>G (n.4283T>G) c.10666T>G (p.Leu3556Val) n.4595T>G c.10795T>G (p.Leu3599Val)	ClinVar
2	g.73572669_73572673delinsTTGAA	CA1261021559	ALMS1	c.10411_10415delinsTTGAA (p.Leu3471=) c.3497_3501delinsTTGAA c.7692_7696delinsTTGAA c.4858_4862delinsTTGAA (p.Leu1620=) c.7737_7741delinsTTGAA c.10792_10796delinsTTGAA (p.Leu3598=) c.946_950delinsTTGAA (p.Leu316=) c.2148_2152delinsTTGAA c.180_184delinsTTGAA c.1889_1893delinsTTGAA c.4283_4287delinsTTGAA (n.4283_4287delinsTTGAA) c.10666_10670delinsTTGAA (p.Leu3556=) n.4595_4599delinsTTGAA c.10795_10799delinsTTGAA (p.Leu3599=)
2	g.73572670_73572674del	CA913090899	ALMS1	c.10412_10416del (p.Leu3471Ter) c.3498_3502del c.7693_7697del c.4859_4863del (p.Leu1620Ter) c.7738_7742del c.10793_10797del (p.Leu3598Ter) c.947_951del (p.Leu316Ter) c.2149_2153del c.181_185del c.1890_1894del c.4284_4288del (n.4284_4288del) c.10667_10671del (p.Leu3556Ter) n.4596_4600del c.10796_10800del (p.Leu3599Ter)
2	g.73572670T>A	CA347285525	ALMS1	c.10412T>A (p.Leu3471Ter) c.3498T>A c.7693T>A c.4859T>A (p.Leu1620Ter) c.7738T>A c.10793T>A (p.Leu3598Ter) c.947T>A (p.Leu316Ter) c.2149T>A c.181T>A c.1890T>A c.4284T>A (n.4284T>A) c.10667T>A (p.Leu3556Ter) n.4596T>A c.10796T>A (p.Leu3599Ter)
2	g.73572670T>C	CA347285530	ALMS1	c.10412T>C (p.Leu3471Ser) c.3498T>C c.7693T>C c.4859T>C (p.Leu1620Ser) c.7738T>C c.10793T>C (p.Leu3598Ser) c.947T>C (p.Leu316Ser) c.2149T>C c.181T>C c.1890T>C c.4284T>C (n.4284T>C) c.10667T>C (p.Leu3556Ser) n.4596T>C c.10796T>C (p.Leu3599Ser)
2	g.73572670T>G	CA347285527	ALMS1	c.10412T>G (p.Leu3471Trp) c.3498T>G c.7693T>G c.4859T>G (p.Leu1620Trp) c.7738T>G c.10793T>G (p.Leu3598Trp) c.947T>G (p.Leu316Trp) c.2149T>G c.181T>G c.1890T>G c.4284T>G (n.4284T>G) c.10667T>G (p.Leu3556Trp) n.4596T>G c.10796T>G (p.Leu3599Trp)
2	g.73572674_73572677del	CA658822831	ALMS1	c.10416_10419del (p.Glu3473CysfsTer?) c.3502_3505del c.7697_7700del c.4863_4866del (p.Glu1622CysfsTer?) c.7742_7745del c.10797_10800del (p.Glu3600CysfsTer?) c.951_954del (p.Glu318CysfsTer?) c.2153_2156del c.185_188del c.1894_1897del c.4288_4291del (n.4288_4291del) c.10671_10674del (p.Glu3558CysfsTer?) n.4600_4603del c.10800_10803del (p.Glu3601CysfsTer?)	ClinVar dbSNP
2	g.73572671G>A	CA427024522	ALMS1	c.10413G>A (p.Leu3471=) c.3499G>A c.7694G>A c.4860G>A (p.Leu1620=) c.7739G>A c.10794G>A (p.Leu3598=) c.948G>A (p.Leu316=) c.2150G>A c.182G>A c.1891G>A c.4285G>A (n.4285G>A) c.10668G>A (p.Leu3556=) n.4597G>A c.10797G>A (p.Leu3599=)
2	g.73572671G>C	CA347285533	ALMS1	c.10413G>C (p.Leu3471Phe) c.3499G>C c.7694G>C c.4860G>C (p.Leu1620Phe) c.7739G>C c.10794G>C (p.Leu3598Phe) c.948G>C (p.Leu316Phe) c.2150G>C c.182G>C c.1891G>C c.4285G>C (n.4285G>C) c.10668G>C (p.Leu3556Phe) n.4597G>C c.10797G>C (p.Leu3599Phe)
2	g.73572671G>T	CA347285536	ALMS1	c.10413G>T (p.Leu3471Phe) c.3499G>T c.7694G>T c.4860G>T (p.Leu1620Phe) c.7739G>T c.10794G>T (p.Leu3598Phe) c.948G>T (p.Leu316Phe) c.2150G>T c.182G>T c.1891G>T c.4285G>T (n.4285G>T) c.10668G>T (p.Leu3556Phe) n.4597G>T c.10797G>T (p.Leu3599Phe)
2	g.73572672A>C	CA347285539	ALMS1	c.10414A>C (p.Asn3472His) c.3500A>C c.7695A>C c.4861A>C (p.Asn1621His) c.7740A>C c.10795A>C (p.Asn3599His) c.949A>C (p.Asn317His) c.2151A>C c.183A>C c.1892A>C c.4286A>C (n.4286A>C) c.10669A>C (p.Asn3557His) n.4598A>C c.10798A>C (p.Asn3600His)
2	g.73572672A>G	CA347285541	ALMS1	c.10414A>G (p.Asn3472Asp) c.3500A>G c.7695A>G c.4861A>G (p.Asn1621Asp) c.7740A>G c.10795A>G (p.Asn3599Asp) c.949A>G (p.Asn317Asp) c.2151A>G c.183A>G c.1892A>G c.4286A>G (n.4286A>G) c.10669A>G (p.Asn3557Asp) n.4598A>G c.10798A>G (p.Asn3600Asp)
2	g.73572672A>T	CA347285544	ALMS1	c.10414A>T (p.Asn3472Tyr) c.3500A>T c.7695A>T c.4861A>T (p.Asn1621Tyr) c.7740A>T c.10795A>T (p.Asn3599Tyr) c.949A>T (p.Asn317Tyr) c.2151A>T c.183A>T c.1892A>T c.4286A>T (n.4286A>T) c.10669A>T (p.Asn3557Tyr) n.4598A>T c.10798A>T (p.Asn3600Tyr)
2	g.73572673A>C	CA347285547	ALMS1	c.10415A>C (p.Asn3472Thr) c.3501A>C c.7696A>C c.4862A>C (p.Asn1621Thr) c.7741A>C c.10796A>C (p.Asn3599Thr) c.950A>C (p.Asn317Thr) c.2152A>C c.184A>C c.1893A>C c.4287A>C (n.4287A>C) c.10670A>C (p.Asn3557Thr) n.4599A>C c.10799A>C (p.Asn3600Thr)
2	g.73572673A>G	CA347285552	ALMS1	c.10415A>G (p.Asn3472Ser) c.3501A>G c.7696A>G c.4862A>G (p.Asn1621Ser) c.7741A>G c.10796A>G (p.Asn3599Ser) c.950A>G (p.Asn317Ser) c.2152A>G c.184A>G c.1893A>G c.4287A>G (n.4287A>G) c.10670A>G (p.Asn3557Ser) n.4599A>G c.10799A>G (p.Asn3600Ser)
2	g.73572673A>T	CA347285550	ALMS1	c.10415A>T (p.Asn3472Ile) c.3501A>T c.7696A>T c.4862A>T (p.Asn1621Ile) c.7741A>T c.10796A>T (p.Asn3599Ile) c.950A>T (p.Asn317Ile) c.2152A>T c.184A>T c.1893A>T c.4287A>T (n.4287A>T) c.10670A>T (p.Asn3557Ile) n.4599A>T c.10799A>T (p.Asn3600Ile)
2	g.73572674T>A	CA347285555	ALMS1	c.10416T>A (p.Asn3472Lys) c.3502T>A c.7697T>A c.4863T>A (p.Asn1621Lys) c.7742T>A c.10797T>A (p.Asn3599Lys) c.951T>A (p.Asn317Lys) c.2153T>A c.185T>A c.1894T>A c.4288T>A (n.4288T>A) c.10671T>A (p.Asn3557Lys) n.4600T>A c.10800T>A (p.Asn3600Lys)
2	g.73572674T>C	CA427024532	ALMS1	c.10416T>C (p.Asn3472=) c.3502T>C c.7697T>C c.4863T>C (p.Asn1621=) c.7742T>C c.10797T>C (p.Asn3599=) c.951T>C (p.Asn317=) c.2153T>C c.185T>C c.1894T>C c.4288T>C (n.4288T>C) c.10671T>C (p.Asn3557=) n.4600T>C c.10800T>C (p.Asn3600=)	ClinVar dbSNP
2	g.73572674T>G	CA347285557	ALMS1	c.10416T>G (p.Asn3472Lys) c.3502T>G c.7697T>G c.4863T>G (p.Asn1621Lys) c.7742T>G c.10797T>G (p.Asn3599Lys) c.951T>G (p.Asn317Lys) c.2153T>G c.185T>G c.1894T>G c.4288T>G (n.4288T>G) c.10671T>G (p.Asn3557Lys) n.4600T>G c.10800T>G (p.Asn3600Lys)
2	g.73572675G>A	CA347285560	ALMS1	c.10417G>A (p.Glu3473Lys) c.3503G>A c.7698G>A c.4864G>A (p.Glu1622Lys) c.7743G>A c.10798G>A (p.Glu3600Lys) c.952G>A (p.Glu318Lys) c.2154G>A c.186G>A c.1895G>A c.4289G>A (n.4289G>A) c.10672G>A (p.Glu3558Lys) n.4601G>A c.10801G>A (p.Glu3601Lys)	gnomAD v4
2	g.73572675G>C	CA347285562	ALMS1	c.10417G>C (p.Glu3473Gln) c.3503G>C c.7698G>C c.4864G>C (p.Glu1622Gln) c.7743G>C c.10798G>C (p.Glu3600Gln) c.952G>C (p.Glu318Gln) c.2154G>C c.186G>C c.1895G>C c.4289G>C (n.4289G>C) c.10672G>C (p.Glu3558Gln) n.4601G>C c.10801G>C (p.Glu3601Gln)
2	g.73572675G>T	CA347285564	ALMS1	c.10417G>T (p.Glu3473Ter) c.3503G>T c.7698G>T c.4864G>T (p.Glu1622Ter) c.7743G>T c.10798G>T (p.Glu3600Ter) c.952G>T (p.Glu318Ter) c.2154G>T c.186G>T c.1895G>T c.4289G>T (n.4289G>T) c.10672G>T (p.Glu3558Ter) n.4601G>T c.10801G>T (p.Glu3601Ter)	ClinVar
2	g.73572676A>C	CA347285567	ALMS1	c.10418A>C (p.Glu3473Ala) c.3504A>C c.7699A>C c.4865A>C (p.Glu1622Ala) c.7744A>C c.10799A>C (p.Glu3600Ala) c.953A>C (p.Glu318Ala) c.2155A>C c.187A>C c.1896A>C c.4290A>C (n.4290A>C) c.10673A>C (p.Glu3558Ala) n.4602A>C c.10802A>C (p.Glu3601Ala)
2	g.73572676A>G	CA347285570	ALMS1	c.10418A>G (p.Glu3473Gly) c.3504A>G c.7699A>G c.4865A>G (p.Glu1622Gly) c.7744A>G c.10799A>G (p.Glu3600Gly) c.953A>G (p.Glu318Gly) c.2155A>G c.187A>G c.1896A>G c.4290A>G (n.4290A>G) c.10673A>G (p.Glu3558Gly) n.4602A>G c.10802A>G (p.Glu3601Gly)
2	g.73572676A>T	CA347285572	ALMS1	c.10418A>T (p.Glu3473Val) c.3504A>T c.7699A>T c.4865A>T (p.Glu1622Val) c.7744A>T c.10799A>T (p.Glu3600Val) c.953A>T (p.Glu318Val) c.2155A>T c.187A>T c.1896A>T c.4290A>T (n.4290A>T) c.10673A>T (p.Glu3558Val) n.4602A>T c.10802A>T (p.Glu3601Val)	gnomAD v4
2	g.73572677A>C	CA347285575	ALMS1	c.10419A>C (p.Glu3473Asp) c.3505A>C c.7700A>C c.4866A>C (p.Glu1622Asp) c.7745A>C c.10800A>C (p.Glu3600Asp) c.954A>C (p.Glu318Asp) c.2156A>C c.188A>C c.1897A>C c.4291A>C (n.4291A>C) c.10674A>C (p.Glu3558Asp) n.4603A>C c.10803A>C (p.Glu3601Asp)
2	g.73572677A>G	CA427024538	ALMS1	c.10419A>G (p.Glu3473=) c.3505A>G c.7700A>G c.4866A>G (p.Glu1622=) c.7745A>G c.10800A>G (p.Glu3600=) c.954A>G (p.Glu318=) c.2156A>G c.188A>G c.1897A>G c.4291A>G (n.4291A>G) c.10674A>G (p.Glu3558=) n.4603A>G c.10803A>G (p.Glu3601=)	gnomAD v4
2	g.73572677A>T	CA347285577	ALMS1	c.10419A>T (p.Glu3473Asp) c.3505A>T c.7700A>T c.4866A>T (p.Glu1622Asp) c.7745A>T c.10800A>T (p.Glu3600Asp) c.954A>T (p.Glu318Asp) c.2156A>T c.188A>T c.1897A>T c.4291A>T (n.4291A>T) c.10674A>T (p.Glu3558Asp) n.4603A>T c.10803A>T (p.Glu3601Asp)
2	g.73572678C>A	CA347285580	ALMS1	c.10420C>A (p.Leu3474Met) c.3506C>A c.7701C>A c.4867C>A (p.Leu1623Met) c.7746C>A c.10801C>A (p.Leu3601Met) c.955C>A (p.Leu319Met) c.2157C>A c.189C>A c.1898C>A c.4292C>A (n.4292C>A) c.10675C>A (p.Leu3559Met) n.4604C>A c.10804C>A (p.Leu3602Met)
2	g.73572678C=	CA1261021571	ALMS1	c.10420C= (p.Leu3474=) c.3506C= c.7701C= c.4867C= (p.Leu1623=) c.7746C= c.10801C= (p.Leu3601=) c.955C= (p.Leu319=) c.2157C= c.189C= c.1898C= c.4292C= (n.4292C=) c.10675C= (p.Leu3559=) n.4604C= c.10804C= (p.Leu3602=)
2	g.73572678C>G	CA1715061	ALMS1	c.10420C>G (p.Leu3474Val) c.3506C>G c.7701C>G c.4867C>G (p.Leu1623Val) c.7746C>G c.10801C>G (p.Leu3601Val) c.955C>G (p.Leu319Val) c.2157C>G c.189C>G c.1898C>G c.4292C>G (n.4292C>G) c.10675C>G (p.Leu3559Val) n.4604C>G c.10804C>G (p.Leu3602Val)	dbSNP ExAC gnomAD v2
2	g.73572678C>T	CA427024543	ALMS1	c.10420C>T (p.Leu3474=) c.3506C>T c.7701C>T c.4867C>T (p.Leu1623=) c.7746C>T c.10801C>T (p.Leu3601=) c.955C>T (p.Leu319=) c.2157C>T c.189C>T c.1898C>T c.4292C>T (n.4292C>T) c.10675C>T (p.Leu3559=) n.4604C>T c.10804C>T (p.Leu3602=)
2	g.73572679del	CA2659617194	ALMS1	c.10421del (p.Leu3474ArgfsTer?) c.3507del c.7702del c.4868del (p.Leu1623ArgfsTer?) c.7747del c.10802del (p.Leu3601ArgfsTer?) c.956del (p.Leu319ArgfsTer?) c.2158del c.190del c.1899del c.4293del (n.4293del) c.10676del (p.Leu3559ArgfsTer?) n.4605del c.10805del (p.Leu3602ArgfsTer?)	gnomAD v4
2	g.73572679T>A	CA347285590	ALMS1	c.10421T>A (p.Leu3474Gln) c.3507T>A c.7702T>A c.4868T>A (p.Leu1623Gln) c.7747T>A c.10802T>A (p.Leu3601Gln) c.956T>A (p.Leu319Gln) c.2158T>A c.190T>A c.1899T>A c.4293T>A (n.4293T>A) c.10676T>A (p.Leu3559Gln) n.4605T>A c.10805T>A (p.Leu3602Gln)
2	g.73572679T>C	CA347285587	ALMS1	c.10421T>C (p.Leu3474Pro) c.3507T>C c.7702T>C c.4868T>C (p.Leu1623Pro) c.7747T>C c.10802T>C (p.Leu3601Pro) c.956T>C (p.Leu319Pro) c.2158T>C c.190T>C c.1899T>C c.4293T>C (n.4293T>C) c.10676T>C (p.Leu3559Pro) n.4605T>C c.10805T>C (p.Leu3602Pro)
2	g.73572679T>G	CA347285585	ALMS1	c.10421T>G (p.Leu3474Arg) c.3507T>G c.7702T>G c.4868T>G (p.Leu1623Arg) c.7747T>G c.10802T>G (p.Leu3601Arg) c.956T>G (p.Leu319Arg) c.2158T>G c.190T>G c.1899T>G c.4293T>G (n.4293T>G) c.10676T>G (p.Leu3559Arg) n.4605T>G c.10805T>G (p.Leu3602Arg)
2	g.73572680G>A	CA427024546	ALMS1	c.10422G>A (p.Leu3474=) c.3508G>A c.7703G>A c.4869G>A (p.Leu1623=) c.7748G>A c.10803G>A (p.Leu3601=) c.957G>A (p.Leu319=) c.2159G>A c.191G>A c.1900G>A c.4294G>A (n.4294G>A) c.10677G>A (p.Leu3559=) n.4606G>A c.10806G>A (p.Leu3602=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572680G>C	CA427024547	ALMS1	c.10422G>C (p.Leu3474=) c.3508G>C c.7703G>C c.4869G>C (p.Leu1623=) c.7748G>C c.10803G>C (p.Leu3601=) c.957G>C (p.Leu319=) c.2159G>C c.191G>C c.1900G>C c.4294G>C (n.4294G>C) c.10677G>C (p.Leu3559=) n.4606G>C c.10806G>C (p.Leu3602=)
2	g.73572680G=	CA1261021573	ALMS1	c.10422G= (p.Leu3474=) c.3508G= c.7703G= c.4869G= (p.Leu1623=) c.7748G= c.10803G= (p.Leu3601=) c.957G= (p.Leu319=) c.2159G= c.191G= c.1900G= c.4294G= (n.4294G=) c.10677G= (p.Leu3559=) n.4606G= c.10806G= (p.Leu3602=)
2	g.73572680G>T	CA427024548	ALMS1	c.10422G>T (p.Leu3474=) c.3508G>T c.7703G>T c.4869G>T (p.Leu1623=) c.7748G>T c.10803G>T (p.Leu3601=) c.957G>T (p.Leu319=) c.2159G>T c.191G>T c.1900G>T c.4294G>T (n.4294G>T) c.10677G>T (p.Leu3559=) n.4606G>T c.10806G>T (p.Leu3602=)
2	g.73572681del	CA2659617195	ALMS1	c.10423del (p.Trp3475GlyfsTer?) c.3509del c.7704del c.4870del (p.Trp1624GlyfsTer?) c.7749del c.10804del (p.Trp3602GlyfsTer?) c.958del (p.Trp320GlyfsTer?) c.2160del c.192del c.1901del c.4295del (n.4295del) c.10678del (p.Trp3560GlyfsTer?) n.4607del c.10807del (p.Trp3603GlyfsTer?)	gnomAD v4
2	g.73572681T>A	CA347285593	ALMS1	c.10423T>A (p.Trp3475Arg) c.3509T>A c.7704T>A c.4870T>A (p.Trp1624Arg) c.7749T>A c.10804T>A (p.Trp3602Arg) c.958T>A (p.Trp320Arg) c.2160T>A c.192T>A c.1901T>A c.4295T>A (n.4295T>A) c.10678T>A (p.Trp3560Arg) n.4607T>A c.10807T>A (p.Trp3603Arg)
2	g.73572681T>C	CA347285597	ALMS1	c.10423T>C (p.Trp3475Arg) c.3509T>C c.7704T>C c.4870T>C (p.Trp1624Arg) c.7749T>C c.10804T>C (p.Trp3602Arg) c.958T>C (p.Trp320Arg) c.2160T>C c.192T>C c.1901T>C c.4295T>C (n.4295T>C) c.10678T>C (p.Trp3560Arg) n.4607T>C c.10807T>C (p.Trp3603Arg)
2	g.73572681T>G	CA347285595	ALMS1	c.10423T>G (p.Trp3475Gly) c.3509T>G c.7704T>G c.4870T>G (p.Trp1624Gly) c.7749T>G c.10804T>G (p.Trp3602Gly) c.958T>G (p.Trp320Gly) c.2160T>G c.192T>G c.1901T>G c.4295T>G (n.4295T>G) c.10678T>G (p.Trp3560Gly) n.4607T>G c.10807T>G (p.Trp3603Gly)
2	g.73572682G>A	CA347285601	ALMS1	c.10424G>A (p.Trp3475Ter) c.3510G>A c.7705G>A c.4871G>A (p.Trp1624Ter) c.7750G>A c.10805G>A (p.Trp3602Ter) c.959G>A (p.Trp320Ter) c.2161G>A c.193G>A c.1902G>A c.4296G>A (n.4296G>A) c.10679G>A (p.Trp3560Ter) n.4608G>A c.10808G>A (p.Trp3603Ter)	gnomAD v4
2	g.73572682G>C	CA347285603	ALMS1	c.10424G>C (p.Trp3475Ser) c.3510G>C c.7705G>C c.4871G>C (p.Trp1624Ser) c.7750G>C c.10805G>C (p.Trp3602Ser) c.959G>C (p.Trp320Ser) c.2161G>C c.193G>C c.1902G>C c.4296G>C (n.4296G>C) c.10679G>C (p.Trp3560Ser) n.4608G>C c.10808G>C (p.Trp3603Ser)
2	g.73572682G>T	CA347285602	ALMS1	c.10424G>T (p.Trp3475Leu) c.3510G>T c.7705G>T c.4871G>T (p.Trp1624Leu) c.7750G>T c.10805G>T (p.Trp3602Leu) c.959G>T (p.Trp320Leu) c.2161G>T c.193G>T c.1902G>T c.4296G>T (n.4296G>T) c.10679G>T (p.Trp3560Leu) n.4608G>T c.10808G>T (p.Trp3603Leu)
2	g.73572683G>A	CA347285604	ALMS1	c.10425G>A (p.Trp3475Ter) c.3511G>A c.7706G>A c.4872G>A (p.Trp1624Ter) c.7751G>A c.10806G>A (p.Trp3602Ter) c.960G>A (p.Trp320Ter) c.2162G>A c.194G>A c.1903G>A c.4297G>A (n.4297G>A) c.10680G>A (p.Trp3560Ter) n.4609G>A c.10809G>A (p.Trp3603Ter)
2	g.73572683G>C	CA347285605	ALMS1	c.10425G>C (p.Trp3475Cys) c.3511G>C c.7706G>C c.4872G>C (p.Trp1624Cys) c.7751G>C c.10806G>C (p.Trp3602Cys) c.960G>C (p.Trp320Cys) c.2162G>C c.194G>C c.1903G>C c.4297G>C (n.4297G>C) c.10680G>C (p.Trp3560Cys) n.4609G>C c.10809G>C (p.Trp3603Cys)	dbSNP
2	g.73572683G=	CA1261021583	ALMS1	c.10425G= (p.Trp3475=) c.3511G= c.7706G= c.4872G= (p.Trp1624=) c.7751G= c.10806G= (p.Trp3602=) c.960G= (p.Trp320=) c.2162G= c.194G= c.1903G= c.4297G= (n.4297G=) c.10680G= (p.Trp3560=) n.4609G= c.10809G= (p.Trp3603=)
2	g.73572683G>T	CA347285606	ALMS1	c.10425G>T (p.Trp3475Cys) c.3511G>T c.7706G>T c.4872G>T (p.Trp1624Cys) c.7751G>T c.10806G>T (p.Trp3602Cys) c.960G>T (p.Trp320Cys) c.2162G>T c.194G>T c.1903G>T c.4297G>T (n.4297G>T) c.10680G>T (p.Trp3560Cys) n.4609G>T c.10809G>T (p.Trp3603Cys)
2	g.73572684A>C	CA347285610	ALMS1	c.10426A>C (p.Asn3476His) c.3512A>C c.7707A>C c.4873A>C (p.Asn1625His) c.7752A>C c.10807A>C (p.Asn3603His) c.961A>C (p.Asn321His) c.2163A>C c.195A>C c.1904A>C c.4298A>C (n.4298A>C) c.10681A>C (p.Asn3561His) n.4610A>C c.10810A>C (p.Asn3604His)
2	g.73572684A>G	CA347285611	ALMS1	c.10426A>G (p.Asn3476Asp) c.3512A>G c.7707A>G c.4873A>G (p.Asn1625Asp) c.7752A>G c.10807A>G (p.Asn3603Asp) c.961A>G (p.Asn321Asp) c.2163A>G c.195A>G c.1904A>G c.4298A>G (n.4298A>G) c.10681A>G (p.Asn3561Asp) n.4610A>G c.10810A>G (p.Asn3604Asp)
2	g.73572684A>T	CA347285613	ALMS1	c.10426A>T (p.Asn3476Tyr) c.3512A>T c.7707A>T c.4873A>T (p.Asn1625Tyr) c.7752A>T c.10807A>T (p.Asn3603Tyr) c.961A>T (p.Asn321Tyr) c.2163A>T c.195A>T c.1904A>T c.4298A>T (n.4298A>T) c.10681A>T (p.Asn3561Tyr) n.4610A>T c.10810A>T (p.Asn3604Tyr)
2	g.73572685A=	CA1261021588	ALMS1	c.10427A= (p.Asn3476=) c.3513A= c.7708A= c.4874A= (p.Asn1625=) c.7753A= c.10808A= (p.Asn3603=) c.962A= (p.Asn321=) c.2164A= c.196A= c.1905A= c.4299A= (n.4299A=) c.10682A= (p.Asn3561=) n.4611A= c.10811A= (p.Asn3604=)
2	g.73572685A>C	CA347285615	ALMS1	c.10427A>C (p.Asn3476Thr) c.3513A>C c.7708A>C c.4874A>C (p.Asn1625Thr) c.7753A>C c.10808A>C (p.Asn3603Thr) c.962A>C (p.Asn321Thr) c.2164A>C c.196A>C c.1905A>C c.4299A>C (n.4299A>C) c.10682A>C (p.Asn3561Thr) n.4611A>C c.10811A>C (p.Asn3604Thr)
2	g.73572685A>G	CA1715062	ALMS1	c.10427A>G (p.Asn3476Ser) c.3513A>G c.7708A>G c.4874A>G (p.Asn1625Ser) c.7753A>G c.10808A>G (p.Asn3603Ser) c.962A>G (p.Asn321Ser) c.2164A>G c.196A>G c.1905A>G c.4299A>G (n.4299A>G) c.10682A>G (p.Asn3561Ser) n.4611A>G c.10811A>G (p.Asn3604Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73572685A>T	CA347285618	ALMS1	c.10427A>T (p.Asn3476Ile) c.3513A>T c.7708A>T c.4874A>T (p.Asn1625Ile) c.7753A>T c.10808A>T (p.Asn3603Ile) c.962A>T (p.Asn321Ile) c.2164A>T c.196A>T c.1905A>T c.4299A>T (n.4299A>T) c.10682A>T (p.Asn3561Ile) n.4611A>T c.10811A>T (p.Asn3604Ile)
2	g.73572686C>A	CA347285621	ALMS1	c.10428C>A (p.Asn3476Lys) c.3514C>A c.7709C>A c.4875C>A (p.Asn1625Lys) c.7754C>A c.10809C>A (p.Asn3603Lys) c.963C>A (p.Asn321Lys) c.2165C>A c.197C>A c.1906C>A c.4300C>A (n.4300C>A) c.10683C>A (p.Asn3561Lys) n.4612C>A c.10812C>A (p.Asn3604Lys)
2	g.73572686C>G	CA347285623	ALMS1	c.10428C>G (p.Asn3476Lys) c.3514C>G c.7709C>G c.4875C>G (p.Asn1625Lys) c.7754C>G c.10809C>G (p.Asn3603Lys) c.963C>G (p.Asn321Lys) c.2165C>G c.197C>G c.1906C>G c.4300C>G (n.4300C>G) c.10683C>G (p.Asn3561Lys) n.4612C>G c.10812C>G (p.Asn3604Lys)
2	g.73572686C>T	CA427024565	ALMS1	c.10428C>T (p.Asn3476=) c.3514C>T c.7709C>T c.4875C>T (p.Asn1625=) c.7754C>T c.10809C>T (p.Asn3603=) c.963C>T (p.Asn321=) c.2165C>T c.197C>T c.1906C>T c.4300C>T (n.4300C>T) c.10683C>T (p.Asn3561=) n.4612C>T c.10812C>T (p.Asn3604=)	gnomAD v4
2	g.73572687A>C	CA347285631	ALMS1	c.10429A>C (p.Lys3477Gln) c.3515A>C c.7710A>C c.4876A>C (p.Lys1626Gln) c.7755A>C c.10810A>C (p.Lys3604Gln) c.964A>C (p.Lys322Gln) c.2166A>C c.198A>C c.1907A>C c.4301A>C (n.4301A>C) c.10684A>C (p.Lys3562Gln) n.4613A>C c.10813A>C (p.Lys3605Gln)
2	g.73572687A>G	CA347285629	ALMS1	c.10429A>G (p.Lys3477Glu) c.3515A>G c.7710A>G c.4876A>G (p.Lys1626Glu) c.7755A>G c.10810A>G (p.Lys3604Glu) c.964A>G (p.Lys322Glu) c.2166A>G c.198A>G c.1907A>G c.4301A>G (n.4301A>G) c.10684A>G (p.Lys3562Glu) n.4613A>G c.10813A>G (p.Lys3605Glu)	gnomAD v4
2	g.73572687A>T	CA347285627	ALMS1	c.10429A>T (p.Lys3477Ter) c.3515A>T c.7710A>T c.4876A>T (p.Lys1626Ter) c.7755A>T c.10810A>T (p.Lys3604Ter) c.964A>T (p.Lys322Ter) c.2166A>T c.198A>T c.1907A>T c.4301A>T (n.4301A>T) c.10684A>T (p.Lys3562Ter) n.4613A>T c.10813A>T (p.Lys3605Ter)
2	g.73572688A>C	CA347285635	ALMS1	c.10430A>C (p.Lys3477Thr) c.3516A>C c.7711A>C c.4877A>C (p.Lys1626Thr) c.7756A>C c.10811A>C (p.Lys3604Thr) c.965A>C (p.Lys322Thr) c.2167A>C c.199A>C c.1908A>C c.4302A>C (n.4302A>C) c.10685A>C (p.Lys3562Thr) n.4614A>C c.10814A>C (p.Lys3605Thr)
2	g.73572688A>G	CA347285638	ALMS1	c.10430A>G (p.Lys3477Arg) c.3516A>G c.7711A>G c.4877A>G (p.Lys1626Arg) c.7756A>G c.10811A>G (p.Lys3604Arg) c.965A>G (p.Lys322Arg) c.2167A>G c.199A>G c.1908A>G c.4302A>G (n.4302A>G) c.10685A>G (p.Lys3562Arg) n.4614A>G c.10814A>G (p.Lys3605Arg)
2	g.73572688A>T	CA347285640	ALMS1	c.10430A>T (p.Lys3477Met) c.3516A>T c.7711A>T c.4877A>T (p.Lys1626Met) c.7756A>T c.10811A>T (p.Lys3604Met) c.965A>T (p.Lys322Met) c.2167A>T c.199A>T c.1908A>T c.4302A>T (n.4302A>T) c.10685A>T (p.Lys3562Met) n.4614A>T c.10814A>T (p.Lys3605Met)
2	g.73572689G>A	CA50386456	ALMS1	c.10431G>A (p.Lys3477=) c.3517G>A c.7712G>A c.4878G>A (p.Lys1626=) c.7757G>A c.10812G>A (p.Lys3604=) c.966G>A (p.Lys322=) c.2168G>A c.200G>A c.1909G>A c.4303G>A (n.4303G>A) c.10686G>A (p.Lys3562=) n.4615G>A c.10815G>A (p.Lys3605=)	ClinVar dbSNP
2	g.73572689G>C	CA347285644	ALMS1	c.10431G>C (p.Lys3477Asn) c.3517G>C c.7712G>C c.4878G>C (p.Lys1626Asn) c.7757G>C c.10812G>C (p.Lys3604Asn) c.966G>C (p.Lys322Asn) c.2168G>C c.200G>C c.1909G>C c.4303G>C (n.4303G>C) c.10686G>C (p.Lys3562Asn) n.4615G>C c.10815G>C (p.Lys3605Asn)
2	g.73572689G=	CA1261021593	ALMS1	c.10431G= (p.Lys3477=) c.3517G= c.7712G= c.4878G= (p.Lys1626=) c.7757G= c.10812G= (p.Lys3604=) c.966G= (p.Lys322=) c.2168G= c.200G= c.1909G= c.4303G= (n.4303G=) c.10686G= (p.Lys3562=) n.4615G= c.10815G= (p.Lys3605=)
2	g.73572689G>T	CA347285646	ALMS1	c.10431G>T (p.Lys3477Asn) c.3517G>T c.7712G>T c.4878G>T (p.Lys1626Asn) c.7757G>T c.10812G>T (p.Lys3604Asn) c.966G>T (p.Lys322Asn) c.2168G>T c.200G>T c.1909G>T c.4303G>T (n.4303G>T) c.10686G>T (p.Lys3562Asn) n.4615G>T c.10815G>T (p.Lys3605Asn)
2	g.73572689dup	CA913090900	ALMS1	c.10431dup (p.Tyr3478ValfsTer12) c.3517dup c.7712dup c.4878dup (p.Tyr1627ValfsTer12) c.7757dup c.10812dup (p.Tyr3605ValfsTer12) c.966dup (p.Tyr323ValfsTer12) c.2168dup c.200dup c.1909dup c.4303dup (n.4303dup) c.10686dup (p.Tyr3563ValfsTer12) n.4615dup c.10815dup (p.Tyr3606ValfsTer12)
2	g.73572690_73572694del	CA2659617197	ALMS1	c.10432_10436del (p.Tyr3478GlyfsTer10) c.3518_3522del c.7713_7717del c.4879_4883del (p.Tyr1627GlyfsTer10) c.7758_7762del c.10813_10817del (p.Tyr3605GlyfsTer10) c.967_971del (p.Tyr323GlyfsTer10) c.2169_2173del c.201_205del c.1910_1914del c.4304_4308del (n.4304_4308del) c.10687_10691del (p.Tyr3563GlyfsTer10) n.4616_4620del c.10816_10820del (p.Tyr3606GlyfsTer10)	gnomAD v4
2	g.73572690T>A	CA347285649	ALMS1	c.10432T>A (p.Tyr3478Asn) c.3518T>A c.7713T>A c.4879T>A (p.Tyr1627Asn) c.7758T>A c.10813T>A (p.Tyr3605Asn) c.967T>A (p.Tyr323Asn) c.2169T>A c.201T>A c.1910T>A c.4304T>A (n.4304T>A) c.10687T>A (p.Tyr3563Asn) n.4616T>A c.10816T>A (p.Tyr3606Asn)
2	g.73572690T>C	CA347285651	ALMS1	c.10432T>C (p.Tyr3478His) c.3518T>C c.7713T>C c.4879T>C (p.Tyr1627His) c.7758T>C c.10813T>C (p.Tyr3605His) c.967T>C (p.Tyr323His) c.2169T>C c.201T>C c.1910T>C c.4304T>C (n.4304T>C) c.10687T>C (p.Tyr3563His) n.4616T>C c.10816T>C (p.Tyr3606His)	gnomAD v4
2	g.73572690T>G	CA347285653	ALMS1	c.10432T>G (p.Tyr3478Asp) c.3518T>G c.7713T>G c.4879T>G (p.Tyr1627Asp) c.7758T>G c.10813T>G (p.Tyr3605Asp) c.967T>G (p.Tyr323Asp) c.2169T>G c.201T>G c.1910T>G c.4304T>G (n.4304T>G) c.10687T>G (p.Tyr3563Asp) n.4616T>G c.10816T>G (p.Tyr3606Asp)
2	g.73572690dup	CA658822832	ALMS1	c.10432dup (p.Tyr3478LeufsTer12) c.3518dup c.7713dup c.4879dup (p.Tyr1627LeufsTer12) c.7758dup c.10813dup (p.Tyr3605LeufsTer12) c.967dup (p.Tyr323LeufsTer12) c.2169dup c.201dup c.1910dup c.4304dup (n.4304dup) c.10687dup (p.Tyr3563LeufsTer12) n.4616dup c.10816dup (p.Tyr3606LeufsTer12)	ClinVar dbSNP
2	g.73572691A>C	CA347285656	ALMS1	c.10433A>C (p.Tyr3478Ser) c.3519A>C c.7714A>C c.4880A>C (p.Tyr1627Ser) c.7759A>C c.10814A>C (p.Tyr3605Ser) c.968A>C (p.Tyr323Ser) c.2170A>C c.202A>C c.1911A>C c.4305A>C (n.4305A>C) c.10688A>C (p.Tyr3563Ser) n.4617A>C c.10817A>C (p.Tyr3606Ser)
2	g.73572691A>G	CA347285658	ALMS1	c.10433A>G (p.Tyr3478Cys) c.3519A>G c.7714A>G c.4880A>G (p.Tyr1627Cys) c.7759A>G c.10814A>G (p.Tyr3605Cys) c.968A>G (p.Tyr323Cys) c.2170A>G c.202A>G c.1911A>G c.4305A>G (n.4305A>G) c.10688A>G (p.Tyr3563Cys) n.4617A>G c.10817A>G (p.Tyr3606Cys)	gnomAD v4
2	g.73572691A>T	CA347285660	ALMS1	c.10433A>T (p.Tyr3478Phe) c.3519A>T c.7714A>T c.4880A>T (p.Tyr1627Phe) c.7759A>T c.10814A>T (p.Tyr3605Phe) c.968A>T (p.Tyr323Phe) c.2170A>T c.202A>T c.1911A>T c.4305A>T (n.4305A>T) c.10688A>T (p.Tyr3563Phe) n.4617A>T c.10817A>T (p.Tyr3606Phe)
2	g.73572692T>A	CA347285662	ALMS1	c.10434T>A (p.Tyr3478Ter) c.3520T>A c.7715T>A c.4881T>A (p.Tyr1627Ter) c.7760T>A c.10815T>A (p.Tyr3605Ter) c.969T>A (p.Tyr323Ter) c.2171T>A c.203T>A c.1912T>A c.4306T>A (n.4306T>A) c.10689T>A (p.Tyr3563Ter) n.4618T>A c.10818T>A (p.Tyr3606Ter)
2	g.73572692T>C	CA427024574	ALMS1	c.10434T>C (p.Tyr3478=) c.3520T>C c.7715T>C c.4881T>C (p.Tyr1627=) c.7760T>C c.10815T>C (p.Tyr3605=) c.969T>C (p.Tyr323=) c.2171T>C c.203T>C c.1912T>C c.4306T>C (n.4306T>C) c.10689T>C (p.Tyr3563=) n.4618T>C c.10818T>C (p.Tyr3606=)	ClinVar dbSNP
2	g.73572692T>G	CA347285665	ALMS1	c.10434T>G (p.Tyr3478Ter) c.3520T>G c.7715T>G c.4881T>G (p.Tyr1627Ter) c.7760T>G c.10815T>G (p.Tyr3605Ter) c.969T>G (p.Tyr323Ter) c.2171T>G c.203T>G c.1912T>G c.4306T>G (n.4306T>G) c.10689T>G (p.Tyr3563Ter) n.4618T>G c.10818T>G (p.Tyr3606Ter)
2	g.73572692T=	CA1261021611	ALMS1	c.10434T= (p.Tyr3478=) c.3520T= c.7715T= c.4881T= (p.Tyr1627=) c.7760T= c.10815T= (p.Tyr3605=) c.969T= (p.Tyr323=) c.2171T= c.203T= c.1912T= c.4306T= (n.4306T=) c.10689T= (p.Tyr3563=) n.4618T= c.10818T= (p.Tyr3606=)
2	g.73572693C>A	CA427024576	ALMS1	c.10435C>A (p.Arg3479=) c.3521C>A c.7716C>A c.4882C>A (p.Arg1628=) c.7761C>A c.10816C>A (p.Arg3606=) c.970C>A (p.Arg324=) c.2172C>A c.204C>A c.1913C>A c.4307C>A (n.4307C>A) c.10690C>A (p.Arg3564=) n.4619C>A c.10819C>A (p.Arg3607=)
2	g.73572693C=	CA1261021619	ALMS1	c.10435C= (p.Arg3479=) c.3521C= c.7716C= c.4882C= (p.Arg1628=) c.7761C= c.10816C= (p.Arg3606=) c.970C= (p.Arg324=) c.2172C= c.204C= c.1913C= c.4307C= (n.4307C=) c.10690C= (p.Arg3564=) n.4619C= c.10819C= (p.Arg3607=)
2	g.73572693C>G	CA347285667	ALMS1	c.10435C>G (p.Arg3479Gly) c.3521C>G c.7716C>G c.4882C>G (p.Arg1628Gly) c.7761C>G c.10816C>G (p.Arg3606Gly) c.970C>G (p.Arg324Gly) c.2172C>G c.204C>G c.1913C>G c.4307C>G (n.4307C>G) c.10690C>G (p.Arg3564Gly) n.4619C>G c.10819C>G (p.Arg3607Gly)	gnomAD v4
2	g.73572693C>T	CA347285669	ALMS1	c.10435C>T (p.Arg3479Trp) c.3521C>T c.7716C>T c.4882C>T (p.Arg1628Trp) c.7761C>T c.10816C>T (p.Arg3606Trp) c.970C>T (p.Arg324Trp) c.2172C>T c.204C>T c.1913C>T c.4307C>T (n.4307C>T) c.10690C>T (p.Arg3564Trp) n.4619C>T c.10819C>T (p.Arg3607Trp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572694G>A	CA1715063	ALMS1	c.10436G>A (p.Arg3479Gln) c.3522G>A c.7717G>A c.4883G>A (p.Arg1628Gln) c.7762G>A c.10817G>A (p.Arg3606Gln) c.971G>A (p.Arg324Gln) c.2173G>A c.205G>A c.1914G>A c.4308G>A (n.4308G>A) c.10691G>A (p.Arg3564Gln) n.4620G>A c.10820G>A (p.Arg3607Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572694G>C	CA347285676	ALMS1	c.10436G>C (p.Arg3479Pro) c.3522G>C c.7717G>C c.4883G>C (p.Arg1628Pro) c.7762G>C c.10817G>C (p.Arg3606Pro) c.971G>C (p.Arg324Pro) c.2173G>C c.205G>C c.1914G>C c.4308G>C (n.4308G>C) c.10691G>C (p.Arg3564Pro) n.4620G>C c.10820G>C (p.Arg3607Pro)
2	g.73572694G=	CA1261021626	ALMS1	c.10436G= (p.Arg3479=) c.3522G= c.7717G= c.4883G= (p.Arg1628=) c.7762G= c.10817G= (p.Arg3606=) c.971G= (p.Arg324=) c.2173G= c.205G= c.1914G= c.4308G= (n.4308G=) c.10691G= (p.Arg3564=) n.4620G= c.10820G= (p.Arg3607=)
2	g.73572694G>T	CA347285678	ALMS1	c.10436G>T (p.Arg3479Leu) c.3522G>T c.7717G>T c.4883G>T (p.Arg1628Leu) c.7762G>T c.10817G>T (p.Arg3606Leu) c.971G>T (p.Arg324Leu) c.2173G>T c.205G>T c.1914G>T c.4308G>T (n.4308G>T) c.10691G>T (p.Arg3564Leu) n.4620G>T c.10820G>T (p.Arg3607Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.73572695G>A	CA427024579	ALMS1	c.10437G>A (p.Arg3479=) c.3523G>A c.7718G>A c.4884G>A (p.Arg1628=) c.7763G>A c.10818G>A (p.Arg3606=) c.972G>A (p.Arg324=) c.2174G>A c.206G>A c.1915G>A c.4309G>A (n.4309G>A) c.10692G>A (p.Arg3564=) n.4621G>A c.10821G>A (p.Arg3607=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572695G>C	CA427024581	ALMS1	c.10437G>C (p.Arg3479=) c.3523G>C c.7718G>C c.4884G>C (p.Arg1628=) c.7763G>C c.10818G>C (p.Arg3606=) c.972G>C (p.Arg324=) c.2174G>C c.206G>C c.1915G>C c.4309G>C (n.4309G>C) c.10692G>C (p.Arg3564=) n.4621G>C c.10821G>C (p.Arg3607=)
2	g.73572695G=	CA1261021631	ALMS1	c.10437G= (p.Arg3479=) c.3523G= c.7718G= c.4884G= (p.Arg1628=) c.7763G= c.10818G= (p.Arg3606=) c.972G= (p.Arg324=) c.2174G= c.206G= c.1915G= c.4309G= (n.4309G=) c.10692G= (p.Arg3564=) n.4621G= c.10821G= (p.Arg3607=)
2	g.73572695G>T	CA427024580	ALMS1	c.10437G>T (p.Arg3479=) c.3523G>T c.7718G>T c.4884G>T (p.Arg1628=) c.7763G>T c.10818G>T (p.Arg3606=) c.972G>T (p.Arg324=) c.2174G>T c.206G>T c.1915G>T c.4309G>T (n.4309G>T) c.10692G>T (p.Arg3564=) n.4621G>T c.10821G>T (p.Arg3607=)
2	g.73572696G>A	CA347285681	ALMS1	c.10438G>A (p.Glu3480Lys) c.3524G>A c.7719G>A c.4885G>A (p.Glu1629Lys) c.7764G>A c.10819G>A (p.Glu3607Lys) c.973G>A (p.Glu325Lys) c.2175G>A c.207G>A c.1916G>A c.4310G>A (n.4310G>A) c.10693G>A (p.Glu3565Lys) n.4622G>A c.10822G>A (p.Glu3608Lys)	ClinVar
2	g.73572696G>C	CA347285683	ALMS1	c.10438G>C (p.Glu3480Gln) c.3524G>C c.7719G>C c.4885G>C (p.Glu1629Gln) c.7764G>C c.10819G>C (p.Glu3607Gln) c.973G>C (p.Glu325Gln) c.2175G>C c.207G>C c.1916G>C c.4310G>C (n.4310G>C) c.10693G>C (p.Glu3565Gln) n.4622G>C c.10822G>C (p.Glu3608Gln)
2	g.73572696G>T	CA347285685	ALMS1	c.10438G>T (p.Glu3480Ter) c.3524G>T c.7719G>T c.4885G>T (p.Glu1629Ter) c.7764G>T c.10819G>T (p.Glu3607Ter) c.973G>T (p.Glu325Ter) c.2175G>T c.207G>T c.1916G>T c.4310G>T (n.4310G>T) c.10693G>T (p.Glu3565Ter) n.4622G>T c.10822G>T (p.Glu3608Ter)
2	g.73572697A>C	CA347285689	ALMS1	c.10439A>C (p.Glu3480Ala) c.3525A>C c.7720A>C c.4886A>C (p.Glu1629Ala) c.7765A>C c.10820A>C (p.Glu3607Ala) c.974A>C (p.Glu325Ala) c.2176A>C c.208A>C c.1917A>C c.4311A>C (n.4311A>C) c.10694A>C (p.Glu3565Ala) n.4623A>C c.10823A>C (p.Glu3608Ala)
2	g.73572697A>G	CA347285691	ALMS1	c.10439A>G (p.Glu3480Gly) c.3525A>G c.7720A>G c.4886A>G (p.Glu1629Gly) c.7765A>G c.10820A>G (p.Glu3607Gly) c.974A>G (p.Glu325Gly) c.2176A>G c.208A>G c.1917A>G c.4311A>G (n.4311A>G) c.10694A>G (p.Glu3565Gly) n.4623A>G c.10823A>G (p.Glu3608Gly)
2	g.73572697A>T	CA347285693	ALMS1	c.10439A>T (p.Glu3480Val) c.3525A>T c.7720A>T c.4886A>T (p.Glu1629Val) c.7765A>T c.10820A>T (p.Glu3607Val) c.974A>T (p.Glu325Val) c.2176A>T c.208A>T c.1917A>T c.4311A>T (n.4311A>T) c.10694A>T (p.Glu3565Val) n.4623A>T c.10823A>T (p.Glu3608Val)
2	g.73572698G>A	CA427024586	ALMS1	c.10440G>A (p.Glu3480=) c.3526G>A c.7721G>A c.4887G>A (p.Glu1629=) c.7766G>A c.10821G>A (p.Glu3607=) c.975G>A (p.Glu325=) c.2177G>A c.209G>A c.1918G>A c.4312G>A (n.4312G>A) c.10695G>A (p.Glu3565=) n.4624G>A c.10824G>A (p.Glu3608=)
2	g.73572698G>C	CA347285696	ALMS1	c.10440G>C (p.Glu3480Asp) c.3526G>C c.7721G>C c.4887G>C (p.Glu1629Asp) c.7766G>C c.10821G>C (p.Glu3607Asp) c.975G>C (p.Glu325Asp) c.2177G>C c.209G>C c.1918G>C c.4312G>C (n.4312G>C) c.10695G>C (p.Glu3565Asp) n.4624G>C c.10824G>C (p.Glu3608Asp)
2	g.73572698G=	CA1261021634	ALMS1	c.10440G= (p.Glu3480=) c.3526G= c.7721G= c.4887G= (p.Glu1629=) c.7766G= c.10821G= (p.Glu3607=) c.975G= (p.Glu325=) c.2177G= c.209G= c.1918G= c.4312G= (n.4312G=) c.10695G= (p.Glu3565=) n.4624G= c.10824G= (p.Glu3608=)
2	g.73572698G>T	CA347285698	ALMS1	c.10440G>T (p.Glu3480Asp) c.3526G>T c.7721G>T c.4887G>T (p.Glu1629Asp) c.7766G>T c.10821G>T (p.Glu3607Asp) c.975G>T (p.Glu325Asp) c.2177G>T c.209G>T c.1918G>T c.4312G>T (n.4312G>T) c.10695G>T (p.Glu3565Asp) n.4624G>T c.10824G>T (p.Glu3608Asp)
2	g.73572699C>A	CA427024589	ALMS1	c.10441C>A (p.Arg3481=) c.3527C>A c.7722C>A c.4888C>A (p.Arg1630=) c.7767C>A c.10822C>A (p.Arg3608=) c.976C>A (p.Arg326=) c.2178C>A c.210C>A c.1919C>A c.4313C>A (n.4313C>A) c.10696C>A (p.Arg3566=) n.4625C>A c.10825C>A (p.Arg3609=)
2	g.73572699C=	CA1261021642	ALMS1	c.10441C= (p.Arg3481=) c.3527C= c.7722C= c.4888C= (p.Arg1630=) c.7767C= c.10822C= (p.Arg3608=) c.976C= (p.Arg326=) c.2178C= c.210C= c.1919C= c.4313C= (n.4313C=) c.10696C= (p.Arg3566=) n.4625C= c.10825C= (p.Arg3609=)
2	g.73572699C>G	CA347285702	ALMS1	c.10441C>G (p.Arg3481Gly) c.3527C>G c.7722C>G c.4888C>G (p.Arg1630Gly) c.7767C>G c.10822C>G (p.Arg3608Gly) c.976C>G (p.Arg326Gly) c.2178C>G c.210C>G c.1919C>G c.4313C>G (n.4313C>G) c.10696C>G (p.Arg3566Gly) n.4625C>G c.10825C>G (p.Arg3609Gly)	ClinVar
2	g.73572699C>T	CA347285703	ALMS1	c.10441C>T (p.Arg3481Ter) c.3527C>T c.7722C>T c.4888C>T (p.Arg1630Ter) c.7767C>T c.10822C>T (p.Arg3608Ter) c.976C>T (p.Arg326Ter) c.2178C>T c.210C>T c.1919C>T c.4313C>T (n.4313C>T) c.10696C>T (p.Arg3566Ter) n.4625C>T c.10825C>T (p.Arg3609Ter)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.73572699_73572702dup	CA1715064	ALMS1	c.10441_10444dup (p.Gln3482ProfsTer9) c.3527_3530dup c.7722_7725dup c.4888_4891dup (p.Gln1631ProfsTer9) c.7767_7770dup c.10822_10825dup (p.Gln3609ProfsTer9) c.976_979dup (p.Gln327ProfsTer9) c.2178_2181dup c.210_213dup c.1919_1922dup c.4313_4316dup (n.4313_4316dup) c.10696_10699dup (p.Gln3567ProfsTer9) n.4625_4628dup c.10825_10828dup (p.Gln3610ProfsTer9)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73572700G>A	CA1715065	ALMS1	c.10442G>A (p.Arg3481Gln) c.3528G>A c.7723G>A c.4889G>A (p.Arg1630Gln) c.7768G>A c.10823G>A (p.Arg3608Gln) c.977G>A (p.Arg326Gln) c.2179G>A c.211G>A c.1920G>A c.4314G>A (n.4314G>A) c.10697G>A (p.Arg3566Gln) n.4626G>A c.10826G>A (p.Arg3609Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572700G>C	CA347285707	ALMS1	c.10442G>C (p.Arg3481Pro) c.3528G>C c.7723G>C c.4889G>C (p.Arg1630Pro) c.7768G>C c.10823G>C (p.Arg3608Pro) c.977G>C (p.Arg326Pro) c.2179G>C c.211G>C c.1920G>C c.4314G>C (n.4314G>C) c.10697G>C (p.Arg3566Pro) n.4626G>C c.10826G>C (p.Arg3609Pro)
2	g.73572700G=	CA1261021649	ALMS1	c.10442G= (p.Arg3481=) c.3528G= c.7723G= c.4889G= (p.Arg1630=) c.7768G= c.10823G= (p.Arg3608=) c.977G= (p.Arg326=) c.2179G= c.211G= c.1920G= c.4314G= (n.4314G=) c.10697G= (p.Arg3566=) n.4626G= c.10826G= (p.Arg3609=)
2	g.73572700G>T	CA347285709	ALMS1	c.10442G>T (p.Arg3481Leu) c.3528G>T c.7723G>T c.4889G>T (p.Arg1630Leu) c.7768G>T c.10823G>T (p.Arg3608Leu) c.977G>T (p.Arg326Leu) c.2179G>T c.211G>T c.1920G>T c.4314G>T (n.4314G>T) c.10697G>T (p.Arg3566Leu) n.4626G>T c.10826G>T (p.Arg3609Leu)
2	g.73572701A>C	CA427024596	ALMS1	c.10443A>C (p.Arg3481=) c.3529A>C c.7724A>C c.4890A>C (p.Arg1630=) c.7769A>C c.10824A>C (p.Arg3608=) c.978A>C (p.Arg326=) c.2180A>C c.212A>C c.1921A>C c.4315A>C (n.4315A>C) c.10698A>C (p.Arg3566=) n.4627A>C c.10827A>C (p.Arg3609=)	ClinVar dbSNP
2	g.73572701A>G	CA427024597	ALMS1	c.10443A>G (p.Arg3481=) c.3529A>G c.7724A>G c.4890A>G (p.Arg1630=) c.7769A>G c.10824A>G (p.Arg3608=) c.978A>G (p.Arg326=) c.2180A>G c.212A>G c.1921A>G c.4315A>G (n.4315A>G) c.10698A>G (p.Arg3566=) n.4627A>G c.10827A>G (p.Arg3609=)	gnomAD v4
2	g.73572701A>T	CA427024599	ALMS1	c.10443A>T (p.Arg3481=) c.3529A>T c.7724A>T c.4890A>T (p.Arg1630=) c.7769A>T c.10824A>T (p.Arg3608=) c.978A>T (p.Arg326=) c.2180A>T c.212A>T c.1921A>T c.4315A>T (n.4315A>T) c.10698A>T (p.Arg3566=) n.4627A>T c.10827A>T (p.Arg3609=)	ClinVar
2	g.73572702C>A	CA50386464	ALMS1	c.10444C>A (p.Gln3482Lys) c.3530C>A c.7725C>A c.4891C>A (p.Gln1631Lys) c.7770C>A c.10825C>A (p.Gln3609Lys) c.979C>A (p.Gln327Lys) c.2181C>A c.213C>A c.1922C>A c.4316C>A (n.4316C>A) c.10699C>A (p.Gln3567Lys) n.4628C>A c.10828C>A (p.Gln3610Lys)	dbSNP
2	g.73572702C=	CA1261021655	ALMS1	c.10444C= (p.Gln3482=) c.3530C= c.7725C= c.4891C= (p.Gln1631=) c.7770C= c.10825C= (p.Gln3609=) c.979C= (p.Gln327=) c.2181C= c.213C= c.1922C= c.4316C= (n.4316C=) c.10699C= (p.Gln3567=) n.4628C= c.10828C= (p.Gln3610=)
2	g.73572702C>G	CA347285713	ALMS1	c.10444C>G (p.Gln3482Glu) c.3530C>G c.7725C>G c.4891C>G (p.Gln1631Glu) c.7770C>G c.10825C>G (p.Gln3609Glu) c.979C>G (p.Gln327Glu) c.2181C>G c.213C>G c.1922C>G c.4316C>G (n.4316C>G) c.10699C>G (p.Gln3567Glu) n.4628C>G c.10828C>G (p.Gln3610Glu)
2	g.73572702C>T	CA347285715	ALMS1	c.10444C>T (p.Gln3482Ter) c.3530C>T c.7725C>T c.4891C>T (p.Gln1631Ter) c.7770C>T c.10825C>T (p.Gln3609Ter) c.979C>T (p.Gln327Ter) c.2181C>T c.213C>T c.1922C>T c.4316C>T (n.4316C>T) c.10699C>T (p.Gln3567Ter) n.4628C>T c.10828C>T (p.Gln3610Ter)	ClinVar
2	g.73572702_73572704del	CA913090901	ALMS1	c.10444_10446del (p.Gln3482del) c.3530_3532del c.7725_7727del c.4891_4893del (p.Gln1631del) c.7770_7772del c.10825_10827del (p.Gln3609del) c.979_981del (p.Gln327del) c.2181_2183del c.213_215del c.1922_1924del c.4316_4318del (n.4316_4318del) c.10699_10701del (p.Gln3567del) n.4628_4630del c.10828_10830del (p.Gln3610del)
2	g.73572702_73572704delinsCAG	CA1261021657	ALMS1	c.10444_10446delinsCAG (p.Gln3482=) c.3530_3532delinsCAG c.7725_7727delinsCAG c.4891_4893delinsCAG (p.Gln1631=) c.7770_7772delinsCAG c.10825_10827delinsCAG (p.Gln3609=) c.979_981delinsCAG (p.Gln327=) c.2181_2183delinsCAG c.213_215delinsCAG c.1922_1924delinsCAG c.4316_4318delinsCAG (n.4316_4318delinsCAG) c.10699_10701delinsCAG (p.Gln3567=) n.4628_4630delinsCAG c.10828_10830delinsCAG (p.Gln3610=)
2	g.73572703A=	CA1261021671	ALMS1	c.10445A= (p.Gln3482=) c.3531A= c.7726A= c.4892A= (p.Gln1631=) c.7771A= c.10826A= (p.Gln3609=) c.980A= (p.Gln327=) c.2182A= c.214A= c.1923A= c.4317A= (n.4317A=) c.10700A= (p.Gln3567=) n.4629A= c.10829A= (p.Gln3610=)
2	g.73572703A>C	CA347285719	ALMS1	c.10445A>C (p.Gln3482Pro) c.3531A>C c.7726A>C c.4892A>C (p.Gln1631Pro) c.7771A>C c.10826A>C (p.Gln3609Pro) c.980A>C (p.Gln327Pro) c.2182A>C c.214A>C c.1923A>C c.4317A>C (n.4317A>C) c.10700A>C (p.Gln3567Pro) n.4629A>C c.10829A>C (p.Gln3610Pro)
2	g.73572703A>G	CA10615962	ALMS1	c.10445A>G (p.Gln3482Arg) c.3531A>G c.7726A>G c.4892A>G (p.Gln1631Arg) c.7771A>G c.10826A>G (p.Gln3609Arg) c.980A>G (p.Gln327Arg) c.2182A>G c.214A>G c.1923A>G c.4317A>G (n.4317A>G) c.10700A>G (p.Gln3567Arg) n.4629A>G c.10829A>G (p.Gln3610Arg)	ClinVar dbSNP
2	g.73572703A>T	CA347285722	ALMS1	c.10445A>T (p.Gln3482Leu) c.3531A>T c.7726A>T c.4892A>T (p.Gln1631Leu) c.7771A>T c.10826A>T (p.Gln3609Leu) c.980A>T (p.Gln327Leu) c.2182A>T c.214A>T c.1923A>T c.4317A>T (n.4317A>T) c.10700A>T (p.Gln3567Leu) n.4629A>T c.10829A>T (p.Gln3610Leu)
2	g.73572705_73572706del	CA1715066	ALMS1	c.10447_10448del (p.Arg3483AlafsTer6) c.3533_3534del c.7728_7729del c.4894_4895del (p.Arg1632AlafsTer6) c.7773_7774del c.10828_10829del (p.Arg3610AlafsTer6) c.982_983del (p.Arg328AlafsTer6) c.2184_2185del c.216_217del c.1925_1926del c.4319_4320del (n.4319_4320del) c.10702_10703del (p.Arg3568AlafsTer6) n.4631_4632del c.10831_10832del (p.Arg3611AlafsTer6)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572704G>A	CA427024603	ALMS1	c.10446G>A (p.Gln3482=) c.3532G>A c.7727G>A c.4893G>A (p.Gln1631=) c.7772G>A c.10827G>A (p.Gln3609=) c.981G>A (p.Gln327=) c.2183G>A c.215G>A c.1924G>A c.4318G>A (n.4318G>A) c.10701G>A (p.Gln3567=) n.4630G>A c.10830G>A (p.Gln3610=)	ClinVar dbSNP
2	g.73572704G>C	CA347285726	ALMS1	c.10446G>C (p.Gln3482His) c.3532G>C c.7727G>C c.4893G>C (p.Gln1631His) c.7772G>C c.10827G>C (p.Gln3609His) c.981G>C (p.Gln327His) c.2183G>C c.215G>C c.1924G>C c.4318G>C (n.4318G>C) c.10701G>C (p.Gln3567His) n.4630G>C c.10830G>C (p.Gln3610His)	ClinVar dbSNP
2	g.73572704G>T	CA347285729	ALMS1	c.10446G>T (p.Gln3482His) c.3532G>T c.7727G>T c.4893G>T (p.Gln1631His) c.7772G>T c.10827G>T (p.Gln3609His) c.981G>T (p.Gln327His) c.2183G>T c.215G>T c.1924G>T c.4318G>T (n.4318G>T) c.10701G>T (p.Gln3567His) n.4630G>T c.10830G>T (p.Gln3610His)
2	g.73572704_73572705insC	CA2586964951	ALMS1	c.10446_10447insC (p.Arg3483GlnfsTer7) c.3532_3533insC c.7727_7728insC c.4893_4894insC (p.Arg1632GlnfsTer7) c.7772_7773insC c.10827_10828insC (p.Arg3610GlnfsTer7) c.981_982insC (p.Arg328GlnfsTer7) c.2183_2184insC c.215_216insC c.1924_1925insC c.4318_4319insC (n.4318_4319insC) c.10701_10702insC (p.Arg3568GlnfsTer7) n.4630_4631insC c.10830_10831insC (p.Arg3611GlnfsTer7)
2	g.73572705A=	CA1261021675	ALMS1	c.10447A= (p.Arg3483=) c.3533A= c.7728A= c.4894A= (p.Arg1632=) c.7773A= c.10828A= (p.Arg3610=) c.982A= (p.Arg328=) c.2184A= c.216A= c.1925A= c.4319A= (n.4319A=) c.10702A= (p.Arg3568=) n.4631A= c.10831A= (p.Arg3611=)
2	g.73572705A>C	CA427024605	ALMS1	c.10447A>C (p.Arg3483=) c.3533A>C c.7728A>C c.4894A>C (p.Arg1632=) c.7773A>C c.10828A>C (p.Arg3610=) c.982A>C (p.Arg328=) c.2184A>C c.216A>C c.1925A>C c.4319A>C (n.4319A>C) c.10702A>C (p.Arg3568=) n.4631A>C c.10831A>C (p.Arg3611=)
2	g.73572705A>G	CA1715067	ALMS1	c.10447A>G (p.Arg3483Gly) c.3533A>G c.7728A>G c.4894A>G (p.Arg1632Gly) c.7773A>G c.10828A>G (p.Arg3610Gly) c.982A>G (p.Arg328Gly) c.2184A>G c.216A>G c.1925A>G c.4319A>G (n.4319A>G) c.10702A>G (p.Arg3568Gly) n.4631A>G c.10831A>G (p.Arg3611Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73572705A>T	CA347285732	ALMS1	c.10447A>T (p.Arg3483Trp) c.3533A>T c.7728A>T c.4894A>T (p.Arg1632Trp) c.7773A>T c.10828A>T (p.Arg3610Trp) c.982A>T (p.Arg328Trp) c.2184A>T c.216A>T c.1925A>T c.4319A>T (n.4319A>T) c.10702A>T (p.Arg3568Trp) n.4631A>T c.10831A>T (p.Arg3611Trp)
2	g.73572706G>A	CA347285738	ALMS1	c.10448G>A (p.Arg3483Lys) c.3534G>A c.7729G>A c.4895G>A (p.Arg1632Lys) c.7774G>A c.10829G>A (p.Arg3610Lys) c.983G>A (p.Arg328Lys) c.2185G>A c.217G>A c.1926G>A c.4320G>A (n.4320G>A) c.10703G>A (p.Arg3568Lys) n.4632G>A c.10832G>A (p.Arg3611Lys)
2	g.73572706G>C	CA347285741	ALMS1	c.10448G>C (p.Arg3483Thr) c.3534G>C c.7729G>C c.4895G>C (p.Arg1632Thr) c.7774G>C c.10829G>C (p.Arg3610Thr) c.983G>C (p.Arg328Thr) c.2185G>C c.217G>C c.1926G>C c.4320G>C (n.4320G>C) c.10703G>C (p.Arg3568Thr) n.4632G>C c.10832G>C (p.Arg3611Thr)
2	g.73572706G>T	CA347285740	ALMS1	c.10448G>T (p.Arg3483Met) c.3534G>T c.7729G>T c.4895G>T (p.Arg1632Met) c.7774G>T c.10829G>T (p.Arg3610Met) c.983G>T (p.Arg328Met) c.2185G>T c.217G>T c.1926G>T c.4320G>T (n.4320G>T) c.10703G>T (p.Arg3568Met) n.4632G>T c.10832G>T (p.Arg3611Met)
2	g.73572707G>A	CA1715068	ALMS1	c.10449G>A (p.Arg3483=) c.3535G>A c.7730G>A c.4896G>A (p.Arg1632=) c.7775G>A c.10830G>A (p.Arg3610=) c.984G>A (p.Arg328=) c.2186G>A c.218G>A c.1927G>A c.4321G>A (n.4321G>A) c.10704G>A (p.Arg3568=) n.4633G>A c.10833G>A (p.Arg3611=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73572707G>C	CA347285745	ALMS1	c.10449G>C (p.Arg3483Ser) c.3535G>C c.7730G>C c.4896G>C (p.Arg1632Ser) c.7775G>C c.10830G>C (p.Arg3610Ser) c.984G>C (p.Arg328Ser) c.2186G>C c.218G>C c.1927G>C c.4321G>C (n.4321G>C) c.10704G>C (p.Arg3568Ser) n.4633G>C c.10833G>C (p.Arg3611Ser)
2	g.73572707G=	CA1261021682	ALMS1	c.10449G= (p.Arg3483=) c.3535G= c.7730G= c.4896G= (p.Arg1632=) c.7775G= c.10830G= (p.Arg3610=) c.984G= (p.Arg328=) c.2186G= c.218G= c.1927G= c.4321G= (n.4321G=) c.10704G= (p.Arg3568=) n.4633G= c.10833G= (p.Arg3611=)
2	g.73572707G>T	CA347285748	ALMS1	c.10449G>T (p.Arg3483Ser) c.3535G>T c.7730G>T c.4896G>T (p.Arg1632Ser) c.7775G>T c.10830G>T (p.Arg3610Ser) c.984G>T (p.Arg328Ser) c.2186G>T c.218G>T c.1927G>T c.4321G>T (n.4321G>T) c.10704G>T (p.Arg3568Ser) n.4633G>T c.10833G>T (p.Arg3611Ser)
2	g.73572708C>A	CA347285751	ALMS1	c.10450C>A (p.Gln3484Lys) c.3536C>A c.7731C>A c.4897C>A (p.Gln1633Lys) c.7776C>A c.10831C>A (p.Gln3611Lys) c.985C>A (p.Gln329Lys) c.2187C>A c.219C>A c.1928C>A c.4322C>A (n.4322C>A) c.10705C>A (p.Gln3569Lys) n.4634C>A c.10834C>A (p.Gln3612Lys)
2	g.73572708C>G	CA347285753	ALMS1	c.10450C>G (p.Gln3484Glu) c.3536C>G c.7731C>G c.4897C>G (p.Gln1633Glu) c.7776C>G c.10831C>G (p.Gln3611Glu) c.985C>G (p.Gln329Glu) c.2187C>G c.219C>G c.1928C>G c.4322C>G (n.4322C>G) c.10705C>G (p.Gln3569Glu) n.4634C>G c.10834C>G (p.Gln3612Glu)
2	g.73572708C>T	CA347285755	ALMS1	c.10450C>T (p.Gln3484Ter) c.3536C>T c.7731C>T c.4897C>T (p.Gln1633Ter) c.7776C>T c.10831C>T (p.Gln3611Ter) c.985C>T (p.Gln329Ter) c.2187C>T c.219C>T c.1928C>T c.4322C>T (n.4322C>T) c.10705C>T (p.Gln3569Ter) n.4634C>T c.10834C>T (p.Gln3612Ter)	ClinVar dbSNP
2	g.73572709A=	CA1261021691	ALMS1	c.10451A= (p.Gln3484=) c.3537A= c.7732A= c.4898A= (p.Gln1633=) c.7777A= c.10832A= (p.Gln3611=) c.986A= (p.Gln329=) c.2188A= c.220A= c.1929A= c.4323A= (n.4323A=) c.10706A= (p.Gln3569=) n.4635A= c.10835A= (p.Gln3612=)
2	g.73572709A>C	CA347285758	ALMS1	c.10451A>C (p.Gln3484Pro) c.3537A>C c.7732A>C c.4898A>C (p.Gln1633Pro) c.7777A>C c.10832A>C (p.Gln3611Pro) c.986A>C (p.Gln329Pro) c.2188A>C c.220A>C c.1929A>C c.4323A>C (n.4323A>C) c.10706A>C (p.Gln3569Pro) n.4635A>C c.10835A>C (p.Gln3612Pro)
2	g.73572709A>G	CA1715069	ALMS1	c.10451A>G (p.Gln3484Arg) c.3537A>G c.7732A>G c.4898A>G (p.Gln1633Arg) c.7777A>G c.10832A>G (p.Gln3611Arg) c.986A>G (p.Gln329Arg) c.2188A>G c.220A>G c.1929A>G c.4323A>G (n.4323A>G) c.10706A>G (p.Gln3569Arg) n.4635A>G c.10835A>G (p.Gln3612Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572709A>T	CA347285761	ALMS1	c.10451A>T (p.Gln3484Leu) c.3537A>T c.7732A>T c.4898A>T (p.Gln1633Leu) c.7777A>T c.10832A>T (p.Gln3611Leu) c.986A>T (p.Gln329Leu) c.2188A>T c.220A>T c.1929A>T c.4323A>T (n.4323A>T) c.10706A>T (p.Gln3569Leu) n.4635A>T c.10835A>T (p.Gln3612Leu)
2	g.73572710del	CA2739271096	ALMS1	c.10452del (p.Gln3484HisfsTer?) c.3538del c.7733del c.4899del (p.Gln1633HisfsTer?) c.7778del c.10833del (p.Gln3611HisfsTer?) c.987del (p.Gln329HisfsTer?) c.2189del c.221del c.1930del c.4324del (n.4324del) c.10707del (p.Gln3569HisfsTer?) n.4636del c.10836del (p.Gln3612HisfsTer?)	ClinVar
2	g.73572710A=	CA1261021696	ALMS1	c.10452A= (p.Gln3484=) c.3538A= c.7733A= c.4899A= (p.Gln1633=) c.7778A= c.10833A= (p.Gln3611=) c.987A= (p.Gln329=) c.2189A= c.221A= c.1930A= c.4324A= (n.4324A=) c.10707A= (p.Gln3569=) n.4636A= c.10836A= (p.Gln3612=)
2	g.73572710A>C	CA347285764	ALMS1	c.10452A>C (p.Gln3484His) c.3538A>C c.7733A>C c.4899A>C (p.Gln1633His) c.7778A>C c.10833A>C (p.Gln3611His) c.987A>C (p.Gln329His) c.2189A>C c.221A>C c.1930A>C c.4324A>C (n.4324A>C) c.10707A>C (p.Gln3569His) n.4636A>C c.10836A>C (p.Gln3612His)
2	g.73572710A>G	CA427024610	ALMS1	c.10452A>G (p.Gln3484=) c.3538A>G c.7733A>G c.4899A>G (p.Gln1633=) c.7778A>G c.10833A>G (p.Gln3611=) c.987A>G (p.Gln329=) c.2189A>G c.221A>G c.1930A>G c.4324A>G (n.4324A>G) c.10707A>G (p.Gln3569=) n.4636A>G c.10836A>G (p.Gln3612=)	ClinVar dbSNP gnomAD v4
2	g.73572710A>T	CA347285766	ALMS1	c.10452A>T (p.Gln3484His) c.3538A>T c.7733A>T c.4899A>T (p.Gln1633His) c.7778A>T c.10833A>T (p.Gln3611His) c.987A>T (p.Gln329His) c.2189A>T c.221A>T c.1930A>T c.4324A>T (n.4324A>T) c.10707A>T (p.Gln3569His) n.4636A>T c.10836A>T (p.Gln3612His)
2	g.73572711C>A	CA347285769	ALMS1	c.10453C>A (p.Gln3485Lys) c.3539C>A c.7734C>A c.4900C>A (p.Gln1634Lys) c.7779C>A c.10834C>A (p.Gln3612Lys) c.988C>A (p.Gln330Lys) c.2190C>A c.222C>A c.1931C>A c.4325C>A (n.4325C>A) c.10708C>A (p.Gln3570Lys) n.4637C>A c.10837C>A (p.Gln3613Lys)
2	g.73572711C=	CA1261021702	ALMS1	c.10453C= (p.Gln3485=) c.3539C= c.7734C= c.4900C= (p.Gln1634=) c.7779C= c.10834C= (p.Gln3612=) c.988C= (p.Gln330=) c.2190C= c.222C= c.1931C= c.4325C= (n.4325C=) c.10708C= (p.Gln3570=) n.4637C= c.10837C= (p.Gln3613=)
2	g.73572711C>G	CA1715070	ALMS1	c.10453C>G (p.Gln3485Glu) c.3539C>G c.7734C>G c.4900C>G (p.Gln1634Glu) c.7779C>G c.10834C>G (p.Gln3612Glu) c.988C>G (p.Gln330Glu) c.2190C>G c.222C>G c.1931C>G c.4325C>G (n.4325C>G) c.10708C>G (p.Gln3570Glu) n.4637C>G c.10837C>G (p.Gln3613Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73572711C>T	CA347285768	ALMS1	c.10453C>T (p.Gln3485Ter) c.3539C>T c.7734C>T c.4900C>T (p.Gln1634Ter) c.7779C>T c.10834C>T (p.Gln3612Ter) c.988C>T (p.Gln330Ter) c.2190C>T c.222C>T c.1931C>T c.4325C>T (n.4325C>T) c.10708C>T (p.Gln3570Ter) n.4637C>T c.10837C>T (p.Gln3613Ter)	ClinVar dbSNP gnomAD v4
2	g.73572712A=	CA1261021708	ALMS1	c.10454A= (p.Gln3485=) c.3540A= c.7735A= c.4901A= (p.Gln1634=) c.7780A= c.10835A= (p.Gln3612=) c.989A= (p.Gln330=) c.2191A= c.223A= c.1932A= c.4326A= (n.4326A=) c.10709A= (p.Gln3570=) n.4638A= c.10838A= (p.Gln3613=)
2	g.73572712A>C	CA347285771	ALMS1	c.10454A>C (p.Gln3485Pro) c.3540A>C c.7735A>C c.4901A>C (p.Gln1634Pro) c.7780A>C c.10835A>C (p.Gln3612Pro) c.989A>C (p.Gln330Pro) c.2191A>C c.223A>C c.1932A>C c.4326A>C (n.4326A>C) c.10709A>C (p.Gln3570Pro) n.4638A>C c.10838A>C (p.Gln3613Pro)
2	g.73572712A>G	CA347285773	ALMS1	c.10454A>G (p.Gln3485Arg) c.3540A>G c.7735A>G c.4901A>G (p.Gln1634Arg) c.7780A>G c.10835A>G (p.Gln3612Arg) c.989A>G (p.Gln330Arg) c.2191A>G c.223A>G c.1932A>G c.4326A>G (n.4326A>G) c.10709A>G (p.Gln3570Arg) n.4638A>G c.10838A>G (p.Gln3613Arg)
2	g.73572712A>T	CA347285775	ALMS1	c.10454A>T (p.Gln3485Leu) c.3540A>T c.7735A>T c.4901A>T (p.Gln1634Leu) c.7780A>T c.10835A>T (p.Gln3612Leu) c.989A>T (p.Gln330Leu) c.2191A>T c.223A>T c.1932A>T c.4326A>T (n.4326A>T) c.10709A>T (p.Gln3570Leu) n.4638A>T c.10838A>T (p.Gln3613Leu)
2	g.73572712dup	CA913090902	ALMS1	c.10454dup (p.Arg3486GlufsTer4) c.3540dup c.7735dup c.4901dup (p.Arg1635GlufsTer4) c.7780dup c.10835dup (p.Arg3613GlufsTer4) c.989dup (p.Arg331GlufsTer4) c.2191dup c.223dup c.1932dup c.4326dup (n.4326dup) c.10709dup (p.Arg3571GlufsTer4) n.4638dup c.10838dup (p.Arg3614GlufsTer4)
2	g.73572715_73572716del	CA2697548295	ALMS1	c.10457_10458del (p.Arg3486ThrfsTer3) c.3543_3544del c.7738_7739del c.4904_4905del (p.Arg1635ThrfsTer3) c.7783_7784del c.10838_10839del (p.Arg3613ThrfsTer3) c.992_993del (p.Arg331ThrfsTer3) c.2194_2195del c.226_227del c.1935_1936del c.4329_4330del (n.4329_4330del) c.10712_10713del (p.Arg3571ThrfsTer3) n.4641_4642del c.10841_10842del (p.Arg3614ThrfsTer3)	ClinVar
2	g.73572713G>A	CA427024615	ALMS1	c.10455G>A (p.Gln3485=) c.3541G>A c.7736G>A c.4902G>A (p.Gln1634=) c.7781G>A c.10836G>A (p.Gln3612=) c.990G>A (p.Gln330=) c.2192G>A c.224G>A c.1933G>A c.4327G>A (n.4327G>A) c.10710G>A (p.Gln3570=) n.4639G>A c.10839G>A (p.Gln3613=)	gnomAD v4
2	g.73572713G>C	CA347285776	ALMS1	c.10455G>C (p.Gln3485His) c.3541G>C c.7736G>C c.4902G>C (p.Gln1634His) c.7781G>C c.10836G>C (p.Gln3612His) c.990G>C (p.Gln330His) c.2192G>C c.224G>C c.1933G>C c.4327G>C (n.4327G>C) c.10710G>C (p.Gln3570His) n.4639G>C c.10839G>C (p.Gln3613His)
2	g.73572713G>T	CA347285779	ALMS1	c.10455G>T (p.Gln3485His) c.3541G>T c.7736G>T c.4902G>T (p.Gln1634His) c.7781G>T c.10836G>T (p.Gln3612His) c.990G>T (p.Gln330His) c.2192G>T c.224G>T c.1933G>T c.4327G>T (n.4327G>T) c.10710G>T (p.Gln3570His) n.4639G>T c.10839G>T (p.Gln3613His)
2	g.73572713dup	CA658822833	ALMS1	c.10455dup (p.Arg3486GlufsTer4) c.3541dup c.7736dup c.4902dup (p.Arg1635GlufsTer4) c.7781dup c.10836dup (p.Arg3613GlufsTer4) c.990dup (p.Arg331GlufsTer4) c.2192dup c.224dup c.1933dup c.4327dup (n.4327dup) c.10710dup (p.Arg3571GlufsTer4) n.4639dup c.10839dup (p.Arg3614GlufsTer4)	ClinVar dbSNP
2	g.73572714A>C	CA427024616	ALMS1	c.10456A>C (p.Arg3486=) c.3542A>C c.7737A>C c.4903A>C (p.Arg1635=) c.7782A>C c.10837A>C (p.Arg3613=) c.991A>C (p.Arg331=) c.2193A>C c.225A>C c.1934A>C c.4328A>C (n.4328A>C) c.10711A>C (p.Arg3571=) n.4640A>C c.10840A>C (p.Arg3614=)
2	g.73572714A>G	CA347285781	ALMS1	c.10456A>G (p.Arg3486Gly) c.3542A>G c.7737A>G c.4903A>G (p.Arg1635Gly) c.7782A>G c.10837A>G (p.Arg3613Gly) c.991A>G (p.Arg331Gly) c.2193A>G c.225A>G c.1934A>G c.4328A>G (n.4328A>G) c.10711A>G (p.Arg3571Gly) n.4640A>G c.10840A>G (p.Arg3614Gly)
2	g.73572714A>T	CA347285783	ALMS1	c.10456A>T (p.Arg3486Ter) c.3542A>T c.7737A>T c.4903A>T (p.Arg1635Ter) c.7782A>T c.10837A>T (p.Arg3613Ter) c.991A>T (p.Arg331Ter) c.2193A>T c.225A>T c.1934A>T c.4328A>T (n.4328A>T) c.10711A>T (p.Arg3571Ter) n.4640A>T c.10840A>T (p.Arg3614Ter)
2	g.73572715G>A	CA347285786	ALMS1	c.10457G>A (p.Arg3486Lys) c.3543G>A c.7738G>A c.4904G>A (p.Arg1635Lys) c.7783G>A c.10838G>A (p.Arg3613Lys) c.992G>A (p.Arg331Lys) c.2194G>A c.226G>A c.1935G>A c.4329G>A (n.4329G>A) c.10712G>A (p.Arg3571Lys) n.4641G>A c.10841G>A (p.Arg3614Lys)
2	g.73572715G>C	CA347285787	ALMS1	c.10457G>C (p.Arg3486Thr) c.3543G>C c.7738G>C c.4904G>C (p.Arg1635Thr) c.7783G>C c.10838G>C (p.Arg3613Thr) c.992G>C (p.Arg331Thr) c.2194G>C c.226G>C c.1935G>C c.4329G>C (n.4329G>C) c.10712G>C (p.Arg3571Thr) n.4641G>C c.10841G>C (p.Arg3614Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.73572715G=	CA1261021724	ALMS1	c.10457G= (p.Arg3486=) c.3543G= c.7738G= c.4904G= (p.Arg1635=) c.7783G= c.10838G= (p.Arg3613=) c.992G= (p.Arg331=) c.2194G= c.226G= c.1935G= c.4329G= (n.4329G=) c.10712G= (p.Arg3571=) n.4641G= c.10841G= (p.Arg3614=)
2	g.73572715G>T	CA347285788	ALMS1	c.10457G>T (p.Arg3486Ile) c.3543G>T c.7738G>T c.4904G>T (p.Arg1635Ile) c.7783G>T c.10838G>T (p.Arg3613Ile) c.992G>T (p.Arg331Ile) c.2194G>T c.226G>T c.1935G>T c.4329G>T (n.4329G>T) c.10712G>T (p.Arg3571Ile) n.4641G>T c.10841G>T (p.Arg3614Ile)
2	g.73572716del	CA2659617211	ALMS1	c.10458del (p.Arg3486SerfsTer?) c.3544del c.7739del c.4905del (p.Arg1635SerfsTer?) c.7784del c.10839del (p.Arg3613SerfsTer?) c.993del (p.Arg331SerfsTer?) c.2195del c.227del c.1936del c.4330del (n.4330del) c.10713del (p.Arg3571SerfsTer?) n.4642del c.10842del (p.Arg3614SerfsTer?)	gnomAD v4
2	g.73572716A>C	CA347285791	ALMS1	c.10458A>C (p.Arg3486Ser) c.3544A>C c.7739A>C c.4905A>C (p.Arg1635Ser) c.7784A>C c.10839A>C (p.Arg3613Ser) c.993A>C (p.Arg331Ser) c.2195A>C c.227A>C c.1936A>C c.4330A>C (n.4330A>C) c.10713A>C (p.Arg3571Ser) n.4642A>C c.10842A>C (p.Arg3614Ser)
2	g.73572716A>G	CA427024627	ALMS1	c.10458A>G (p.Arg3486=) c.3544A>G c.7739A>G c.4905A>G (p.Arg1635=) c.7784A>G c.10839A>G (p.Arg3613=) c.993A>G (p.Arg331=) c.2195A>G c.227A>G c.1936A>G c.4330A>G (n.4330A>G) c.10713A>G (p.Arg3571=) n.4642A>G c.10842A>G (p.Arg3614=)
2	g.73572716A>T	CA347285794	ALMS1	c.10458A>T (p.Arg3486Ser) c.3544A>T c.7739A>T c.4905A>T (p.Arg1635Ser) c.7784A>T c.10839A>T (p.Arg3613Ser) c.993A>T (p.Arg331Ser) c.2195A>T c.227A>T c.1936A>T c.4330A>T (n.4330A>T) c.10713A>T (p.Arg3571Ser) n.4642A>T c.10842A>T (p.Arg3614Ser)
2	g.73572717_73572718del	CA2586964952	ALMS1	c.10459_10460del (p.Gln3487AlafsTer2) c.3545_3546del c.7740_7741del c.4906_4907del (p.Gln1636AlafsTer2) c.7785_7786del c.10840_10841del (p.Gln3614AlafsTer2) c.994_995del (p.Gln332AlafsTer2) c.2196_2197del c.228_229del c.1937_1938del c.4331_4332del (n.4331_4332del) c.10714_10715del (p.Gln3572AlafsTer2) n.4643_4644del c.10843_10844del (p.Gln3615AlafsTer2)
2	g.73572717C>A	CA347285801	ALMS1	c.10459C>A (p.Gln3487Lys) c.3545C>A c.7740C>A c.4906C>A (p.Gln1636Lys) c.7785C>A c.10840C>A (p.Gln3614Lys) c.994C>A (p.Gln332Lys) c.2196C>A c.228C>A c.1937C>A c.4331C>A (n.4331C>A) c.10714C>A (p.Gln3572Lys) n.4643C>A c.10843C>A (p.Gln3615Lys)
2	g.73572717C>G	CA347285803	ALMS1	c.10459C>G (p.Gln3487Glu) c.3545C>G c.7740C>G c.4906C>G (p.Gln1636Glu) c.7785C>G c.10840C>G (p.Gln3614Glu) c.994C>G (p.Gln332Glu) c.2196C>G c.228C>G c.1937C>G c.4331C>G (n.4331C>G) c.10714C>G (p.Gln3572Glu) n.4643C>G c.10843C>G (p.Gln3615Glu)	gnomAD v4
2	g.73572717C>T	CA347285798	ALMS1	c.10459C>T (p.Gln3487Ter) c.3545C>T c.7740C>T c.4906C>T (p.Gln1636Ter) c.7785C>T c.10840C>T (p.Gln3614Ter) c.994C>T (p.Gln332Ter) c.2196C>T c.228C>T c.1937C>T c.4331C>T (n.4331C>T) c.10714C>T (p.Gln3572Ter) n.4643C>T c.10843C>T (p.Gln3615Ter)
2	g.73572718A>C	CA347285805	ALMS1	c.10460A>C (p.Gln3487Pro) c.3546A>C c.7741A>C c.4907A>C (p.Gln1636Pro) c.7786A>C c.10841A>C (p.Gln3614Pro) c.995A>C (p.Gln332Pro) c.2197A>C c.229A>C c.1938A>C c.4332A>C (n.4332A>C) c.10715A>C (p.Gln3572Pro) n.4644A>C c.10844A>C (p.Gln3615Pro)
2	g.73572718A>G	CA347285807	ALMS1	c.10460A>G (p.Gln3487Arg) c.3546A>G c.7741A>G c.4907A>G (p.Gln1636Arg) c.7786A>G c.10841A>G (p.Gln3614Arg) c.995A>G (p.Gln332Arg) c.2197A>G c.229A>G c.1938A>G c.4332A>G (n.4332A>G) c.10715A>G (p.Gln3572Arg) n.4644A>G c.10844A>G (p.Gln3615Arg)
2	g.73572718A>T	CA347285809	ALMS1	c.10460A>T (p.Gln3487Leu) c.3546A>T c.7741A>T c.4907A>T (p.Gln1636Leu) c.7786A>T c.10841A>T (p.Gln3614Leu) c.995A>T (p.Gln332Leu) c.2197A>T c.229A>T c.1938A>T c.4332A>T (n.4332A>T) c.10715A>T (p.Gln3572Leu) n.4644A>T c.10844A>T (p.Gln3615Leu)
2	g.73572719G>A	CA427024632	ALMS1	c.10461G>A (p.Gln3487=) c.3547G>A c.7742G>A c.4908G>A (p.Gln1636=) c.7787G>A c.10842G>A (p.Gln3614=) c.996G>A (p.Gln332=) c.2198G>A c.230G>A c.1939G>A c.4333G>A (n.4333G>A) c.10716G>A (p.Gln3572=) n.4645G>A c.10845G>A (p.Gln3615=)
2	g.73572719G>C	CA347285811	ALMS1	c.10461G>C (p.Gln3487His) c.3547G>C c.7742G>C c.4908G>C (p.Gln1636His) c.7787G>C c.10842G>C (p.Gln3614His) c.996G>C (p.Gln332His) c.2198G>C c.230G>C c.1939G>C c.4333G>C (n.4333G>C) c.10716G>C (p.Gln3572His) n.4645G>C c.10845G>C (p.Gln3615His)
2	g.73572719G=	CA1261021729	ALMS1	c.10461G= (p.Gln3487=) c.3547G= c.7742G= c.4908G= (p.Gln1636=) c.7787G= c.10842G= (p.Gln3614=) c.996G= (p.Gln332=) c.2198G= c.230G= c.1939G= c.4333G= (n.4333G=) c.10716G= (p.Gln3572=) n.4645G= c.10845G= (p.Gln3615=)
2	g.73572719G>T	CA347285813	ALMS1	c.10461G>T (p.Gln3487His) c.3547G>T c.7742G>T c.4908G>T (p.Gln1636His) c.7787G>T c.10842G>T (p.Gln3614His) c.996G>T (p.Gln332His) c.2198G>T c.230G>T c.1939G>T c.4333G>T (n.4333G>T) c.10716G>T (p.Gln3572His) n.4645G>T c.10845G>T (p.Gln3615His)	ClinVar dbSNP
2	g.73572719_73572720del	CA913090903	ALMS1	c.10461_10462del (p.Gln3487HisfsTer2) c.3547_3548del c.7742_7743del c.4908_4909del (p.Gln1636HisfsTer2) c.7787_7788del c.10842_10843del (p.Gln3614HisfsTer2) c.996_997del (p.Gln332HisfsTer2) c.2198_2199del c.230_231del c.1939_1940del c.4333_4334del (n.4333_4334del) c.10716_10717del (p.Gln3572HisfsTer2) n.4645_4646del c.10845_10846del (p.Gln3615HisfsTer2)
2	g.73572719_73572720delinsGC	CA1261021727	ALMS1	c.10461_10462delinsGC (p.Gln3487=) c.3547_3548delinsGC c.7742_7743delinsGC c.4908_4909delinsGC (p.Gln1636=) c.7787_7788delinsGC c.10842_10843delinsGC (p.Gln3614=) c.996_997delinsGC (p.Gln332=) c.2198_2199delinsGC c.230_231delinsGC c.1939_1940delinsGC c.4333_4334delinsGC (n.4333_4334delinsGC) c.10716_10717delinsGC (p.Gln3572=) n.4645_4646delinsGC c.10845_10846delinsGC (p.Gln3615=)
2	g.73572720C>A	CA347285821	ALMS1	c.10462C>A (p.Pro3488Thr) c.3548C>A c.7743C>A c.4909C>A (p.Pro1637Thr) c.7788C>A c.10843C>A (p.Pro3615Thr) c.997C>A (p.Pro333Thr) c.2199C>A c.231C>A c.1940C>A c.4334C>A (n.4334C>A) c.10717C>A (p.Pro3573Thr) n.4646C>A c.10846C>A (p.Pro3616Thr)
2	g.73572720C>G	CA347285819	ALMS1	c.10462C>G (p.Pro3488Ala) c.3548C>G c.7743C>G c.4909C>G (p.Pro1637Ala) c.7788C>G c.10843C>G (p.Pro3615Ala) c.997C>G (p.Pro333Ala) c.2199C>G c.231C>G c.1940C>G c.4334C>G (n.4334C>G) c.10717C>G (p.Pro3573Ala) n.4646C>G c.10846C>G (p.Pro3616Ala)
2	g.73572720C>T	CA347285816	ALMS1	c.10462C>T (p.Pro3488Ser) c.3548C>T c.7743C>T c.4909C>T (p.Pro1637Ser) c.7788C>T c.10843C>T (p.Pro3615Ser) c.997C>T (p.Pro333Ser) c.2199C>T c.231C>T c.1940C>T c.4334C>T (n.4334C>T) c.10717C>T (p.Pro3573Ser) n.4646C>T c.10846C>T (p.Pro3616Ser)
2	g.73572721del	CA658822834	ALMS1	c.10463del (p.Pro3488LeufsTer?) c.3549del c.7744del c.4910del (p.Pro1637LeufsTer?) c.7789del c.10844del (p.Pro3615LeufsTer?) c.998del (p.Pro333LeufsTer?) c.2200del c.232del c.1941del c.4335del (n.4335del) c.10718del (p.Pro3573LeufsTer?) n.4647del c.10847del (p.Pro3616LeufsTer?)	ClinVar dbSNP
2	g.73572721C>A	CA347285825	ALMS1	c.10463C>A (p.Pro3488His) c.3549C>A c.7744C>A c.4910C>A (p.Pro1637His) c.7789C>A c.10844C>A (p.Pro3615His) c.998C>A (p.Pro333His) c.2200C>A c.232C>A c.1941C>A c.4335C>A (n.4335C>A) c.10718C>A (p.Pro3573His) n.4647C>A c.10847C>A (p.Pro3616His)
2	g.73572721C>G	CA347285828	ALMS1	c.10463C>G (p.Pro3488Arg) c.3549C>G c.7744C>G c.4910C>G (p.Pro1637Arg) c.7789C>G c.10844C>G (p.Pro3615Arg) c.998C>G (p.Pro333Arg) c.2200C>G c.232C>G c.1941C>G c.4335C>G (n.4335C>G) c.10718C>G (p.Pro3573Arg) n.4647C>G c.10847C>G (p.Pro3616Arg)
2	g.73572721C>T	CA347285830	ALMS1	c.10463C>T (p.Pro3488Leu) c.3549C>T c.7744C>T c.4910C>T (p.Pro1637Leu) c.7789C>T c.10844C>T (p.Pro3615Leu) c.998C>T (p.Pro333Leu) c.2200C>T c.232C>T c.1941C>T c.4335C>T (n.4335C>T) c.10718C>T (p.Pro3573Leu) n.4647C>T c.10847C>T (p.Pro3616Leu)	gnomAD v4
2	g.73572722T>A	CA427024638	ALMS1	c.10464T>A (p.Pro3488=) c.3550T>A c.7745T>A c.4911T>A (p.Pro1637=) c.7790T>A c.10845T>A (p.Pro3615=) c.999T>A (p.Pro333=) c.2201T>A c.233T>A c.1942T>A c.4336T>A (n.4336T>A) c.10719T>A (p.Pro3573=) n.4648T>A c.10848T>A (p.Pro3616=)
2	g.73572722T>C	CA427024639	ALMS1	c.10464T>C (p.Pro3488=) c.3550T>C c.7745T>C c.4911T>C (p.Pro1637=) c.7790T>C c.10845T>C (p.Pro3615=) c.999T>C (p.Pro333=) c.2201T>C c.233T>C c.1942T>C c.4336T>C (n.4336T>C) c.10719T>C (p.Pro3573=) n.4648T>C c.10848T>C (p.Pro3616=)	dbSNP
2	g.73572722T>G	CA427024641	ALMS1	c.10464T>G (p.Pro3488=) c.3550T>G c.7745T>G c.4911T>G (p.Pro1637=) c.7790T>G c.10845T>G (p.Pro3615=) c.999T>G (p.Pro333=) c.2201T>G c.233T>G c.1942T>G c.4336T>G (n.4336T>G) c.10719T>G (p.Pro3573=) n.4648T>G c.10848T>G (p.Pro3616=)
2	g.73572723G>A	CA347285833	ALMS1	c.10465G>A (p.Glu3489Lys) c.3551G>A c.7746G>A c.4912G>A (p.Glu1638Lys) c.7791G>A c.10846G>A (p.Glu3616Lys) c.1000G>A (p.Glu334Lys) c.2202G>A c.234G>A c.1943G>A c.4337G>A (n.4337G>A) c.10720G>A (p.Glu3574Lys) n.4649G>A c.10849G>A (p.Glu3617Lys)
2	g.73572723G>C	CA347285835	ALMS1	c.10465G>C (p.Glu3489Gln) c.3551G>C c.7746G>C c.4912G>C (p.Glu1638Gln) c.7791G>C c.10846G>C (p.Glu3616Gln) c.1000G>C (p.Glu334Gln) c.2202G>C c.234G>C c.1943G>C c.4337G>C (n.4337G>C) c.10720G>C (p.Glu3574Gln) n.4649G>C c.10849G>C (p.Glu3617Gln)
2	g.73572723G>T	CA347285837	ALMS1	c.10465G>T (p.Glu3489Ter) c.3551G>T c.7746G>T c.4912G>T (p.Glu1638Ter) c.7791G>T c.10846G>T (p.Glu3616Ter) c.1000G>T (p.Glu334Ter) c.2202G>T c.234G>T c.1943G>T c.4337G>T (n.4337G>T) c.10720G>T (p.Glu3574Ter) n.4649G>T c.10849G>T (p.Glu3617Ter)
2	g.73572724A=	CA1261021740	ALMS1	c.10466A= (p.Glu3489=) c.3552A= c.7747A= c.4913A= (p.Glu1638=) c.7792A= c.10847A= (p.Glu3616=) c.1001A= (p.Glu334=) c.2203A= c.235A= c.1944A= c.4338A= (n.4338A=) c.10721A= (p.Glu3574=) n.4650A= c.10850A= (p.Glu3617=)
2	g.73572724A>C	CA347285839	ALMS1	c.10466A>C (p.Glu3489Ala) c.3552A>C c.7747A>C c.4913A>C (p.Glu1638Ala) c.7792A>C c.10847A>C (p.Glu3616Ala) c.1001A>C (p.Glu334Ala) c.2203A>C c.235A>C c.1944A>C c.4338A>C (n.4338A>C) c.10721A>C (p.Glu3574Ala) n.4650A>C c.10850A>C (p.Glu3617Ala)
2	g.73572724A>G	CA347285841	ALMS1	c.10466A>G (p.Glu3489Gly) c.3552A>G c.7747A>G c.4913A>G (p.Glu1638Gly) c.7792A>G c.10847A>G (p.Glu3616Gly) c.1001A>G (p.Glu334Gly) c.2203A>G c.235A>G c.1944A>G c.4338A>G (n.4338A>G) c.10721A>G (p.Glu3574Gly) n.4650A>G c.10850A>G (p.Glu3617Gly)	dbSNP gnomAD v2
2	g.73572724A>T	CA347285840	ALMS1	c.10466A>T (p.Glu3489Val) c.3552A>T c.7747A>T c.4913A>T (p.Glu1638Val) c.7792A>T c.10847A>T (p.Glu3616Val) c.1001A>T (p.Glu334Val) c.2203A>T c.235A>T c.1944A>T c.4338A>T (n.4338A>T) c.10721A>T (p.Glu3574Val) n.4650A>T c.10850A>T (p.Glu3617Val)
2	g.73572725G>A	CA427024642	ALMS1	c.10467G>A (p.Glu3489=) c.3553G>A c.7748G>A c.4914G>A (p.Glu1638=) c.7793G>A c.10848G>A (p.Glu3616=) c.1002G>A (p.Glu334=) c.2204G>A c.236G>A c.1945G>A c.4339G>A (n.4339G>A) c.10722G>A (p.Glu3574=) n.4651G>A c.10851G>A (p.Glu3617=)
2	g.73572725G>C	CA347285845	ALMS1	c.10467G>C (p.Glu3489Asp) c.3553G>C c.7748G>C c.4914G>C (p.Glu1638Asp) c.7793G>C c.10848G>C (p.Glu3616Asp) c.1002G>C (p.Glu334Asp) c.2204G>C c.236G>C c.1945G>C c.4339G>C (n.4339G>C) c.10722G>C (p.Glu3574Asp) n.4651G>C c.10851G>C (p.Glu3617Asp)
2	g.73572725G>T	CA347285847	ALMS1	c.10467G>T (p.Glu3489Asp) c.3553G>T c.7748G>T c.4914G>T (p.Glu1638Asp) c.7793G>T c.10848G>T (p.Glu3616Asp) c.1002G>T (p.Glu334Asp) c.2204G>T c.236G>T c.1945G>T c.4339G>T (n.4339G>T) c.10722G>T (p.Glu3574Asp) n.4651G>T c.10851G>T (p.Glu3617Asp)	gnomAD v4
2	g.73572726T>A	CA347285850	ALMS1	c.10468T>A (p.Leu3490Met) c.3554T>A c.7749T>A c.4915T>A (p.Leu1639Met) c.7794T>A c.10849T>A (p.Leu3617Met) c.1003T>A (p.Leu335Met) c.2205T>A c.237T>A c.1946T>A c.4340T>A (n.4340T>A) c.10723T>A (p.Leu3575Met) n.4652T>A c.10852T>A (p.Leu3618Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572726T>C	CA427024644	ALMS1	c.10468T>C (p.Leu3490=) c.3554T>C c.7749T>C c.4915T>C (p.Leu1639=) c.7794T>C c.10849T>C (p.Leu3617=) c.1003T>C (p.Leu335=) c.2205T>C c.237T>C c.1946T>C c.4340T>C (n.4340T>C) c.10723T>C (p.Leu3575=) n.4652T>C c.10852T>C (p.Leu3618=)	ClinVar dbSNP
2	g.73572726T>G	CA1715071	ALMS1	c.10468T>G (p.Leu3490Val) c.3554T>G c.7749T>G c.4915T>G (p.Leu1639Val) c.7794T>G c.10849T>G (p.Leu3617Val) c.1003T>G (p.Leu335Val) c.2205T>G c.237T>G c.1946T>G c.4340T>G (n.4340T>G) c.10723T>G (p.Leu3575Val) n.4652T>G c.10852T>G (p.Leu3618Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572726T=	CA1261021743	ALMS1	c.10468T= (p.Leu3490=) c.3554T= c.7749T= c.4915T= (p.Leu1639=) c.7794T= c.10849T= (p.Leu3617=) c.1003T= (p.Leu335=) c.2205T= c.237T= c.1946T= c.4340T= (n.4340T=) c.10723T= (p.Leu3575=) n.4652T= c.10852T= (p.Leu3618=)
2	g.73572727T>A	CA347285855	ALMS1	c.10469T>A (p.Leu3490Ter) c.3555T>A c.7750T>A c.4916T>A (p.Leu1639Ter) c.7795T>A c.10850T>A (p.Leu3617Ter) c.1004T>A (p.Leu335Ter) c.2206T>A c.238T>A c.1947T>A c.4341T>A (n.4341T>A) c.10724T>A (p.Leu3575Ter) n.4653T>A c.10853T>A (p.Leu3618Ter)
2	g.73572727T>C	CA347285857	ALMS1	c.10469T>C (p.Leu3490Ser) c.3555T>C c.7750T>C c.4916T>C (p.Leu1639Ser) c.7795T>C c.10850T>C (p.Leu3617Ser) c.1004T>C (p.Leu335Ser) c.2206T>C c.238T>C c.1947T>C c.4341T>C (n.4341T>C) c.10724T>C (p.Leu3575Ser) n.4653T>C c.10853T>C (p.Leu3618Ser)
2	g.73572727T>G	CA347285859	ALMS1	c.10469T>G (p.Leu3490Trp) c.3555T>G c.7750T>G c.4916T>G (p.Leu1639Trp) c.7795T>G c.10850T>G (p.Leu3617Trp) c.1004T>G (p.Leu335Trp) c.2206T>G c.238T>G c.1947T>G c.4341T>G (n.4341T>G) c.10724T>G (p.Leu3575Trp) n.4653T>G c.10853T>G (p.Leu3618Trp)
2	g.73572728G>A	CA427024646	ALMS1	c.10470G>A (p.Leu3490=) c.3556G>A c.7751G>A c.4917G>A (p.Leu1639=) c.7796G>A c.10851G>A (p.Leu3617=) c.1005G>A (p.Leu335=) c.2207G>A c.239G>A c.1948G>A c.4342G>A (n.4342G>A) c.10725G>A (p.Leu3575=) n.4654G>A c.10854G>A (p.Leu3618=)	gnomAD v4
2	g.73572728G>C	CA347285861	ALMS1	c.10470G>C (p.Leu3490Phe) c.3556G>C c.7751G>C c.4917G>C (p.Leu1639Phe) c.7796G>C c.10851G>C (p.Leu3617Phe) c.1005G>C (p.Leu335Phe) c.2207G>C c.239G>C c.1948G>C c.4342G>C (n.4342G>C) c.10725G>C (p.Leu3575Phe) n.4654G>C c.10854G>C (p.Leu3618Phe)
2	g.73572728G>T	CA347285863	ALMS1	c.10470G>T (p.Leu3490Phe) c.3556G>T c.7751G>T c.4917G>T (p.Leu1639Phe) c.7796G>T c.10851G>T (p.Leu3617Phe) c.1005G>T (p.Leu335Phe) c.2207G>T c.239G>T c.1948G>T c.4342G>T (n.4342G>T) c.10725G>T (p.Leu3575Phe) n.4654G>T c.10854G>T (p.Leu3618Phe)
2	g.73572729G>A	CA1715072	ALMS1	c.10471G>A (p.Gly3491Ser) c.3557G>A c.7752G>A c.4918G>A (p.Gly1640Ser) c.7797G>A c.10852G>A (p.Gly3618Ser) c.1006G>A (p.Gly336Ser) c.2208G>A c.240G>A c.1949G>A c.4343G>A (n.4343G>A) c.10726G>A (p.Gly3576Ser) n.4655G>A c.10855G>A (p.Gly3619Ser)	dbSNP ExAC gnomAD v2
2	g.73572729G>C	CA347285868	ALMS1	c.10471G>C (p.Gly3491Arg) c.3557G>C c.7752G>C c.4918G>C (p.Gly1640Arg) c.7797G>C c.10852G>C (p.Gly3618Arg) c.1006G>C (p.Gly336Arg) c.2208G>C c.240G>C c.1949G>C c.4343G>C (n.4343G>C) c.10726G>C (p.Gly3576Arg) n.4655G>C c.10855G>C (p.Gly3619Arg)
2	g.73572729G=	CA1261021749	ALMS1	c.10471G= (p.Gly3491=) c.3557G= c.7752G= c.4918G= (p.Gly1640=) c.7797G= c.10852G= (p.Gly3618=) c.1006G= (p.Gly336=) c.2208G= c.240G= c.1949G= c.4343G= (n.4343G=) c.10726G= (p.Gly3576=) n.4655G= c.10855G= (p.Gly3619=)
2	g.73572729G>T	CA347285872	ALMS1	c.10471G>T (p.Gly3491Cys) c.3557G>T c.7752G>T c.4918G>T (p.Gly1640Cys) c.7797G>T c.10852G>T (p.Gly3618Cys) c.1006G>T (p.Gly336Cys) c.2208G>T c.240G>T c.1949G>T c.4343G>T (n.4343G>T) c.10726G>T (p.Gly3576Cys) n.4655G>T c.10855G>T (p.Gly3619Cys)
2	g.73572730G>A	CA1715073	ALMS1	c.10472G>A (p.Gly3491Asp) c.3558G>A c.7753G>A c.4919G>A (p.Gly1640Asp) c.7798G>A c.10853G>A (p.Gly3618Asp) c.1007G>A (p.Gly336Asp) c.2209G>A c.241G>A c.1950G>A c.4344G>A (n.4344G>A) c.10727G>A (p.Gly3576Asp) n.4656G>A c.10856G>A (p.Gly3619Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572730G>C	CA347285878	ALMS1	c.10472G>C (p.Gly3491Ala) c.3558G>C c.7753G>C c.4919G>C (p.Gly1640Ala) c.7798G>C c.10853G>C (p.Gly3618Ala) c.1007G>C (p.Gly336Ala) c.2209G>C c.241G>C c.1950G>C c.4344G>C (n.4344G>C) c.10727G>C (p.Gly3576Ala) n.4656G>C c.10856G>C (p.Gly3619Ala)
2	g.73572730G=	CA1261021753	ALMS1	c.10472G= (p.Gly3491=) c.3558G= c.7753G= c.4919G= (p.Gly1640=) c.7798G= c.10853G= (p.Gly3618=) c.1007G= (p.Gly336=) c.2209G= c.241G= c.1950G= c.4344G= (n.4344G=) c.10727G= (p.Gly3576=) n.4656G= c.10856G= (p.Gly3619=)
2	g.73572730G>T	CA347285876	ALMS1	c.10472G>T (p.Gly3491Val) c.3558G>T c.7753G>T c.4919G>T (p.Gly1640Val) c.7798G>T c.10853G>T (p.Gly3618Val) c.1007G>T (p.Gly336Val) c.2209G>T c.241G>T c.1950G>T c.4344G>T (n.4344G>T) c.10727G>T (p.Gly3576Val) n.4656G>T c.10856G>T (p.Gly3619Val)
2	g.73572731T>A	CA427024652	ALMS1	c.10473T>A (p.Gly3491=) c.3559T>A c.7754T>A c.4920T>A (p.Gly1640=) c.7799T>A c.10854T>A (p.Gly3618=) c.1008T>A (p.Gly336=) c.2210T>A c.242T>A c.1951T>A c.4345T>A (n.4345T>A) c.10728T>A (p.Gly3576=) n.4657T>A c.10857T>A (p.Gly3619=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572731T>C	CA427024654	ALMS1	c.10473T>C (p.Gly3491=) c.3559T>C c.7754T>C c.4920T>C (p.Gly1640=) c.7799T>C c.10854T>C (p.Gly3618=) c.1008T>C (p.Gly336=) c.2210T>C c.242T>C c.1951T>C c.4345T>C (n.4345T>C) c.10728T>C (p.Gly3576=) n.4657T>C c.10857T>C (p.Gly3619=)
2	g.73572731T>G	CA427024655	ALMS1	c.10473T>G (p.Gly3491=) c.3559T>G c.7754T>G c.4920T>G (p.Gly1640=) c.7799T>G c.10854T>G (p.Gly3618=) c.1008T>G (p.Gly336=) c.2210T>G c.242T>G c.1951T>G c.4345T>G (n.4345T>G) c.10728T>G (p.Gly3576=) n.4657T>G c.10857T>G (p.Gly3619=)
2	g.73572731T=	CA1261021758	ALMS1	c.10473T= (p.Gly3491=) c.3559T= c.7754T= c.4920T= (p.Gly1640=) c.7799T= c.10854T= (p.Gly3618=) c.1008T= (p.Gly336=) c.2210T= c.242T= c.1951T= c.4345T= (n.4345T=) c.10728T= (p.Gly3576=) n.4657T= c.10857T= (p.Gly3619=)
2	g.73572732G>A	CA347285882	ALMS1	c.10474G>A (p.Asp3492Asn) c.3560G>A c.7755G>A c.4921G>A (p.Asp1641Asn) c.7800G>A c.10855G>A (p.Asp3619Asn) c.1009G>A (p.Asp337Asn) c.2211G>A c.243G>A c.1952G>A c.4346G>A (n.4346G>A) c.10729G>A (p.Asp3577Asn) n.4658G>A c.10858G>A (p.Asp3620Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572732G>C	CA347285887	ALMS1	c.10474G>C (p.Asp3492His) c.3560G>C c.7755G>C c.4921G>C (p.Asp1641His) c.7800G>C c.10855G>C (p.Asp3619His) c.1009G>C (p.Asp337His) c.2211G>C c.243G>C c.1952G>C c.4346G>C (n.4346G>C) c.10729G>C (p.Asp3577His) n.4658G>C c.10858G>C (p.Asp3620His)
2	g.73572732G=	CA1261021762	ALMS1	c.10474G= (p.Asp3492=) c.3560G= c.7755G= c.4921G= (p.Asp1641=) c.7800G= c.10855G= (p.Asp3619=) c.1009G= (p.Asp337=) c.2211G= c.243G= c.1952G= c.4346G= (n.4346G=) c.10729G= (p.Asp3577=) n.4658G= c.10858G= (p.Asp3620=)
2	g.73572732G>T	CA347285885	ALMS1	c.10474G>T (p.Asp3492Tyr) c.3560G>T c.7755G>T c.4921G>T (p.Asp1641Tyr) c.7800G>T c.10855G>T (p.Asp3619Tyr) c.1009G>T (p.Asp337Tyr) c.2211G>T c.243G>T c.1952G>T c.4346G>T (n.4346G>T) c.10729G>T (p.Asp3577Tyr) n.4658G>T c.10858G>T (p.Asp3620Tyr)
2	g.73572733A=	CA1261021765	ALMS1	c.10475A= (p.Asp3492=) c.3561A= c.7756A= c.4922A= (p.Asp1641=) c.7801A= c.10856A= (p.Asp3619=) c.1010A= (p.Asp337=) c.2212A= c.244A= c.1953A= c.4347A= (n.4347A=) c.10730A= (p.Asp3577=) n.4659A= c.10859A= (p.Asp3620=)
2	g.73572733A>C	CA347285891	ALMS1	c.10475A>C (p.Asp3492Ala) c.3561A>C c.7756A>C c.4922A>C (p.Asp1641Ala) c.7801A>C c.10856A>C (p.Asp3619Ala) c.1010A>C (p.Asp337Ala) c.2212A>C c.244A>C c.1953A>C c.4347A>C (n.4347A>C) c.10730A>C (p.Asp3577Ala) n.4659A>C c.10859A>C (p.Asp3620Ala)
2	g.73572733A>G	CA1715074	ALMS1	c.10475A>G (p.Asp3492Gly) c.3561A>G c.7756A>G c.4922A>G (p.Asp1641Gly) c.7801A>G c.10856A>G (p.Asp3619Gly) c.1010A>G (p.Asp337Gly) c.2212A>G c.244A>G c.1953A>G c.4347A>G (n.4347A>G) c.10730A>G (p.Asp3577Gly) n.4659A>G c.10859A>G (p.Asp3620Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73572733A>T	CA347285893	ALMS1	c.10475A>T (p.Asp3492Val) c.3561A>T c.7756A>T c.4922A>T (p.Asp1641Val) c.7801A>T c.10856A>T (p.Asp3619Val) c.1010A>T (p.Asp337Val) c.2212A>T c.244A>T c.1953A>T c.4347A>T (n.4347A>T) c.10730A>T (p.Asp3577Val) n.4659A>T c.10859A>T (p.Asp3620Val)
2	g.73572734C>A	CA347285898	ALMS1	c.10476C>A (p.Asp3492Glu) c.3562C>A c.7757C>A c.4923C>A (p.Asp1641Glu) c.7802C>A c.10857C>A (p.Asp3619Glu) c.1011C>A (p.Asp337Glu) c.2213C>A c.245C>A c.1954C>A c.4348C>A (n.4348C>A) c.10731C>A (p.Asp3577Glu) n.4660C>A c.10860C>A (p.Asp3620Glu)
2	g.73572734C>G	CA347285900	ALMS1	c.10476C>G (p.Asp3492Glu) c.3562C>G c.7757C>G c.4923C>G (p.Asp1641Glu) c.7802C>G c.10857C>G (p.Asp3619Glu) c.1011C>G (p.Asp337Glu) c.2213C>G c.245C>G c.1954C>G c.4348C>G (n.4348C>G) c.10731C>G (p.Asp3577Glu) n.4660C>G c.10860C>G (p.Asp3620Glu)
2	g.73572734C>T	CA427024662	ALMS1	c.10476C>T (p.Asp3492=) c.3562C>T c.7757C>T c.4923C>T (p.Asp1641=) c.7802C>T c.10857C>T (p.Asp3619=) c.1011C>T (p.Asp337=) c.2213C>T c.245C>T c.1954C>T c.4348C>T (n.4348C>T) c.10731C>T (p.Asp3577=) n.4660C>T c.10860C>T (p.Asp3620=)
2	g.73572735A=	CA1261021775	ALMS1	c.10477A= (p.Arg3493=) c.3563A= c.7758A= c.4924A= (p.Arg1642=) c.7803A= c.10858A= (p.Arg3620=) c.1012A= (p.Arg338=) c.2214A= c.246A= c.1955A= c.4349A= (n.4349A=) c.10732A= (p.Arg3578=) n.4661A= c.10861A= (p.Arg3621=)
2	g.73572735A>C	CA1715075	ALMS1	c.10477A>C (p.Arg3493=) c.3563A>C c.7758A>C c.4924A>C (p.Arg1642=) c.7803A>C c.10858A>C (p.Arg3620=) c.1012A>C (p.Arg338=) c.2214A>C c.246A>C c.1955A>C c.4349A>C (n.4349A>C) c.10732A>C (p.Arg3578=) n.4661A>C c.10861A>C (p.Arg3621=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73572735A>G	CA347285905	ALMS1	c.10477A>G (p.Arg3493Gly) c.3563A>G c.7758A>G c.4924A>G (p.Arg1642Gly) c.7803A>G c.10858A>G (p.Arg3620Gly) c.1012A>G (p.Arg338Gly) c.2214A>G c.246A>G c.1955A>G c.4349A>G (n.4349A>G) c.10732A>G (p.Arg3578Gly) n.4661A>G c.10861A>G (p.Arg3621Gly)
2	g.73572735A>T	CA347285907	ALMS1	c.10477A>T (p.Arg3493Trp) c.3563A>T c.7758A>T c.4924A>T (p.Arg1642Trp) c.7803A>T c.10858A>T (p.Arg3620Trp) c.1012A>T (p.Arg338Trp) c.2214A>T c.246A>T c.1955A>T c.4349A>T (n.4349A>T) c.10732A>T (p.Arg3578Trp) n.4661A>T c.10861A>T (p.Arg3621Trp)
2	g.73572736G>A	CA347285910	ALMS1	c.10478G>A (p.Arg3493Lys) c.3564G>A c.7759G>A c.4925G>A (p.Arg1642Lys) c.7804G>A c.10859G>A (p.Arg3620Lys) c.1013G>A (p.Arg338Lys) c.2215G>A c.247G>A c.1956G>A c.4350G>A (n.4350G>A) c.10733G>A (p.Arg3578Lys) n.4662G>A c.10862G>A (p.Arg3621Lys)
2	g.73572736G>C	CA347285912	ALMS1	c.10478G>C (p.Arg3493Thr) c.3564G>C c.7759G>C c.4925G>C (p.Arg1642Thr) c.7804G>C c.10859G>C (p.Arg3620Thr) c.1013G>C (p.Arg338Thr) c.2215G>C c.247G>C c.1956G>C c.4350G>C (n.4350G>C) c.10733G>C (p.Arg3578Thr) n.4662G>C c.10862G>C (p.Arg3621Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.73572736G=	CA1261021782	ALMS1	c.10478G= (p.Arg3493=) c.3564G= c.7759G= c.4925G= (p.Arg1642=) c.7804G= c.10859G= (p.Arg3620=) c.1013G= (p.Arg338=) c.2215G= c.247G= c.1956G= c.4350G= (n.4350G=) c.10733G= (p.Arg3578=) n.4662G= c.10862G= (p.Arg3621=)
2	g.73572736G>T	CA347285915	ALMS1	c.10478G>T (p.Arg3493Met) c.3564G>T c.7759G>T c.4925G>T (p.Arg1642Met) c.7804G>T c.10859G>T (p.Arg3620Met) c.1013G>T (p.Arg338Met) c.2215G>T c.247G>T c.1956G>T c.4350G>T (n.4350G>T) c.10733G>T (p.Arg3578Met) n.4662G>T c.10862G>T (p.Arg3621Met)	gnomAD v4
2	g.73572737del	CA2580068172	ALMS1	c.10479del (p.Glu3495AsnfsTer?) c.3565del c.7760del c.4926del (p.Glu1644AsnfsTer?) c.7805del c.10860del (p.Glu3622AsnfsTer?) c.1014del (p.Glu340AsnfsTer?) c.2216del c.248del c.1957del c.4351del (n.4351del) c.10734del (p.Glu3580AsnfsTer?) n.4663del c.10863del (p.Glu3623AsnfsTer?)	ClinVar
2	g.73572737G>A	CA1715076	ALMS1	c.10479G>A (p.Arg3493=) c.3565G>A c.7760G>A c.4926G>A (p.Arg1642=) c.7805G>A c.10860G>A (p.Arg3620=) c.1014G>A (p.Arg338=) c.2216G>A c.248G>A c.1957G>A c.4351G>A (n.4351G>A) c.10734G>A (p.Arg3578=) n.4663G>A c.10863G>A (p.Arg3621=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73572737G>C	CA1715077	ALMS1	c.10479G>C (p.Arg3493Ser) c.3565G>C c.7760G>C c.4926G>C (p.Arg1642Ser) c.7805G>C c.10860G>C (p.Arg3620Ser) c.1014G>C (p.Arg338Ser) c.2216G>C c.248G>C c.1957G>C c.4351G>C (n.4351G>C) c.10734G>C (p.Arg3578Ser) n.4663G>C c.10863G>C (p.Arg3621Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73572737G=	CA1261021797	ALMS1	c.10479G= (p.Arg3493=) c.3565G= c.7760G= c.4926G= (p.Arg1642=) c.7805G= c.10860G= (p.Arg3620=) c.1014G= (p.Arg338=) c.2216G= c.248G= c.1957G= c.4351G= (n.4351G=) c.10734G= (p.Arg3578=) n.4663G= c.10863G= (p.Arg3621=)
2	g.73572737G>T	CA347285920	ALMS1	c.10479G>T (p.Arg3493Ser) c.3565G>T c.7760G>T c.4926G>T (p.Arg1642Ser) c.7805G>T c.10860G>T (p.Arg3620Ser) c.1014G>T (p.Arg338Ser) c.2216G>T c.248G>T c.1957G>T c.4351G>T (n.4351G>T) c.10734G>T (p.Arg3578Ser) n.4663G>T c.10863G>T (p.Arg3621Ser)	gnomAD v4
2	g.73572738A>C	CA347285923	ALMS1	c.10480A>C (p.Lys3494Gln) c.3566A>C c.7761A>C c.4927A>C (p.Lys1643Gln) c.7806A>C c.10861A>C (p.Lys3621Gln) c.1015A>C (p.Lys339Gln) c.2217A>C c.249A>C c.1958A>C c.4352A>C (n.4352A>C) c.10735A>C (p.Lys3579Gln) n.4664A>C c.10864A>C (p.Lys3622Gln)
2	g.73572738A>G	CA347285926	ALMS1	c.10480A>G (p.Lys3494Glu) c.3566A>G c.7761A>G c.4927A>G (p.Lys1643Glu) c.7806A>G c.10861A>G (p.Lys3621Glu) c.1015A>G (p.Lys339Glu) c.2217A>G c.249A>G c.1958A>G c.4352A>G (n.4352A>G) c.10735A>G (p.Lys3579Glu) n.4664A>G c.10864A>G (p.Lys3622Glu)
2	g.73572738A>T	CA347285929	ALMS1	c.10480A>T (p.Lys3494Ter) c.3566A>T c.7761A>T c.4927A>T (p.Lys1643Ter) c.7806A>T c.10861A>T (p.Lys3621Ter) c.1015A>T (p.Lys339Ter) c.2217A>T c.249A>T c.1958A>T c.4352A>T (n.4352A>T) c.10735A>T (p.Lys3579Ter) n.4664A>T c.10864A>T (p.Lys3622Ter)
2	g.73572740dup	CA1032214524	ALMS1	c.10482dup (p.Glu3495ArgfsTer9) c.3568dup c.7763dup c.4929dup (p.Glu1644ArgfsTer9) c.7808dup c.10863dup (p.Glu3622ArgfsTer9) c.1017dup (p.Glu340ArgfsTer9) c.2219dup c.251dup c.1960dup c.4354dup (n.4354dup) c.10737dup (p.Glu3580ArgfsTer9) n.4666dup c.10866dup (p.Glu3623ArgfsTer9)	dbSNP gnomAD v3 gnomAD v4
2	g.73572739A=	CA1261021812	ALMS1	c.10481A= (p.Lys3494=) c.3567A= c.7762A= c.4928A= (p.Lys1643=) c.7807A= c.10862A= (p.Lys3621=) c.1016A= (p.Lys339=) c.2218A= c.250A= c.1959A= c.4353A= (n.4353A=) c.10736A= (p.Lys3579=) n.4665A= c.10865A= (p.Lys3622=)
2	g.73572739A>C	CA347285935	ALMS1	c.10481A>C (p.Lys3494Thr) c.3567A>C c.7762A>C c.4928A>C (p.Lys1643Thr) c.7807A>C c.10862A>C (p.Lys3621Thr) c.1016A>C (p.Lys339Thr) c.2218A>C c.250A>C c.1959A>C c.4353A>C (n.4353A>C) c.10736A>C (p.Lys3579Thr) n.4665A>C c.10865A>C (p.Lys3622Thr)
2	g.73572739A>G	CA347285931	ALMS1	c.10481A>G (p.Lys3494Arg) c.3567A>G c.7762A>G c.4928A>G (p.Lys1643Arg) c.7807A>G c.10862A>G (p.Lys3621Arg) c.1016A>G (p.Lys339Arg) c.2218A>G c.250A>G c.1959A>G c.4353A>G (n.4353A>G) c.10736A>G (p.Lys3579Arg) n.4665A>G c.10865A>G (p.Lys3622Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.73572739A>T	CA347285933	ALMS1	c.10481A>T (p.Lys3494Ile) c.3567A>T c.7762A>T c.4928A>T (p.Lys1643Ile) c.7807A>T c.10862A>T (p.Lys3621Ile) c.1016A>T (p.Lys339Ile) c.2218A>T c.250A>T c.1959A>T c.4353A>T (n.4353A>T) c.10736A>T (p.Lys3579Ile) n.4665A>T c.10865A>T (p.Lys3622Ile)
2	g.73572740A=	CA1261021818	ALMS1	c.10482A= (p.Lys3494=) c.3568A= c.7763A= c.4929A= (p.Lys1643=) c.7808A= c.10863A= (p.Lys3621=) c.1017A= (p.Lys339=) c.2219A= c.251A= c.1960A= c.4354A= (n.4354A=) c.10737A= (p.Lys3579=) n.4666A= c.10866A= (p.Lys3622=)
2	g.73572740A>C	CA347285938	ALMS1	c.10482A>C (p.Lys3494Asn) c.3568A>C c.7763A>C c.4929A>C (p.Lys1643Asn) c.7808A>C c.10863A>C (p.Lys3621Asn) c.1017A>C (p.Lys339Asn) c.2219A>C c.251A>C c.1960A>C c.4354A>C (n.4354A>C) c.10737A>C (p.Lys3579Asn) n.4666A>C c.10866A>C (p.Lys3622Asn)
2	g.73572740A>G	CA427023970	ALMS1	c.10482A>G (p.Lys3494=) c.3568A>G c.7763A>G c.4929A>G (p.Lys1643=) c.7808A>G c.10863A>G (p.Lys3621=) c.1017A>G (p.Lys339=) c.2219A>G c.251A>G c.1960A>G c.4354A>G (n.4354A>G) c.10737A>G (p.Lys3579=) n.4666A>G c.10866A>G (p.Lys3622=)	ClinVar dbSNP
2	g.73572740A>T	CA347285941	ALMS1	c.10482A>T (p.Lys3494Asn) c.3568A>T c.7763A>T c.4929A>T (p.Lys1643Asn) c.7808A>T c.10863A>T (p.Lys3621Asn) c.1017A>T (p.Lys339Asn) c.2219A>T c.251A>T c.1960A>T c.4354A>T (n.4354A>T) c.10737A>T (p.Lys3579Asn) n.4666A>T c.10866A>T (p.Lys3622Asn)
2	g.73572741G>A	CA347285945	ALMS1	c.10483G>A (p.Glu3495Lys) c.3569G>A c.7764G>A c.4930G>A (p.Glu1644Lys) c.7809G>A c.10864G>A (p.Glu3622Lys) c.1018G>A (p.Glu340Lys) c.2220G>A c.252G>A c.1961G>A c.4355G>A (n.4355G>A) c.10738G>A (p.Glu3580Lys) n.4667G>A c.10867G>A (p.Glu3623Lys)
2	g.73572741G>C	CA347285946	ALMS1	c.10483G>C (p.Glu3495Gln) c.3569G>C c.7764G>C c.4930G>C (p.Glu1644Gln) c.7809G>C c.10864G>C (p.Glu3622Gln) c.1018G>C (p.Glu340Gln) c.2220G>C c.252G>C c.1961G>C c.4355G>C (n.4355G>C) c.10738G>C (p.Glu3580Gln) n.4667G>C c.10867G>C (p.Glu3623Gln)
2	g.73572741G>T	CA347285947	ALMS1	c.10483G>T (p.Glu3495Ter) c.3569G>T c.7764G>T c.4930G>T (p.Glu1644Ter) c.7809G>T c.10864G>T (p.Glu3622Ter) c.1018G>T (p.Glu340Ter) c.2220G>T c.252G>T c.1961G>T c.4355G>T (n.4355G>T) c.10738G>T (p.Glu3580Ter) n.4667G>T c.10867G>T (p.Glu3623Ter)
2	g.73572742A=	CA1261021823	ALMS1	c.10484A= (p.Glu3495=) c.3570A= c.7765A= c.4931A= (p.Glu1644=) c.7810A= c.10865A= (p.Glu3622=) c.1019A= (p.Glu340=) c.2221A= c.253A= c.1962A= c.4356A= (n.4356A=) c.10739A= (p.Glu3580=) n.4668A= c.10868A= (p.Glu3623=)
2	g.73572742A>C	CA347285948	ALMS1	c.10484A>C (p.Glu3495Ala) c.3570A>C c.7765A>C c.4931A>C (p.Glu1644Ala) c.7810A>C c.10865A>C (p.Glu3622Ala) c.1019A>C (p.Glu340Ala) c.2221A>C c.253A>C c.1962A>C c.4356A>C (n.4356A>C) c.10739A>C (p.Glu3580Ala) n.4668A>C c.10868A>C (p.Glu3623Ala)	dbSNP gnomAD v2 gnomAD v4
2	g.73572742A>G	CA347285949	ALMS1	c.10484A>G (p.Glu3495Gly) c.3570A>G c.7765A>G c.4931A>G (p.Glu1644Gly) c.7810A>G c.10865A>G (p.Glu3622Gly) c.1019A>G (p.Glu340Gly) c.2221A>G c.253A>G c.1962A>G c.4356A>G (n.4356A>G) c.10739A>G (p.Glu3580Gly) n.4668A>G c.10868A>G (p.Glu3623Gly)
2	g.73572742A>T	CA347285950	ALMS1	c.10484A>T (p.Glu3495Val) c.3570A>T c.7765A>T c.4931A>T (p.Glu1644Val) c.7810A>T c.10865A>T (p.Glu3622Val) c.1019A>T (p.Glu340Val) c.2221A>T c.253A>T c.1962A>T c.4356A>T (n.4356A>T) c.10739A>T (p.Glu3580Val) n.4668A>T c.10868A>T (p.Glu3623Val)

Number of alleles fetched