Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73572481_73572546delCA2659617091ALMS1c.10223_10288del (p.Met3408_Asn3429del)
c.3309_3374del
c.7504_7569del
c.4670_4735del (p.Met1557_Asn1578del)
c.7549_7614del
c.10604_10669del (p.Met3535_Asn3556del)
c.758_823del (p.Met253_Asn274del)
c.1960_2025del
c.1701_1766del
c.4095_4160del (n.4095_4160del)
c.10478_10543del (p.Met3493_Asn3514del)
n.4407_4472del
c.10607_10672del (p.Met3536_Asn3557del)
 gnomAD v4
2g.73572504A>CCA347284285ALMS1c.10246A>C (p.Thr3416Pro)
c.3332A>C
c.7527A>C
c.4693A>C (p.Thr1565Pro)
c.7572A>C
c.10627A>C (p.Thr3543Pro)
c.781A>C (p.Thr261Pro)
c.1983A>C
c.15A>C
c.1724A>C
c.4118A>C (n.4118A>C)
c.10501A>C (p.Thr3501Pro)
n.4430A>C
c.10630A>C (p.Thr3544Pro)
2g.73572504A>GCA347284287ALMS1c.10246A>G (p.Thr3416Ala)
c.3332A>G
c.7527A>G
c.4693A>G (p.Thr1565Ala)
c.7572A>G
c.10627A>G (p.Thr3543Ala)
c.781A>G (p.Thr261Ala)
c.1983A>G
c.15A>G
c.1724A>G
c.4118A>G (n.4118A>G)
c.10501A>G (p.Thr3501Ala)
n.4430A>G
c.10630A>G (p.Thr3544Ala)
 gnomAD v4
2g.73572504A>TCA347284290ALMS1c.10246A>T (p.Thr3416Ser)
c.3332A>T
c.7527A>T
c.4693A>T (p.Thr1565Ser)
c.7572A>T
c.10627A>T (p.Thr3543Ser)
c.781A>T (p.Thr261Ser)
c.1983A>T
c.15A>T
c.1724A>T
c.4118A>T (n.4118A>T)
c.10501A>T (p.Thr3501Ser)
n.4430A>T
c.10630A>T (p.Thr3544Ser)
2g.73572505C>ACA347284293ALMS1c.10247C>A (p.Thr3416Asn)
c.3333C>A
c.7528C>A
c.4694C>A (p.Thr1565Asn)
c.7573C>A
c.10628C>A (p.Thr3543Asn)
c.782C>A (p.Thr261Asn)
c.1984C>A
c.16C>A
c.1725C>A
c.4119C>A (n.4119C>A)
c.10502C>A (p.Thr3501Asn)
n.4431C>A
c.10631C>A (p.Thr3544Asn)
2g.73572505C=CA1261021241ALMS1c.10247C= (p.Thr3416=)
c.3333C=
c.7528C=
c.4694C= (p.Thr1565=)
c.7573C=
c.10628C= (p.Thr3543=)
c.782C= (p.Thr261=)
c.1984C=
c.16C=
c.1725C=
c.4119C= (n.4119C=)
c.10502C= (p.Thr3501=)
n.4431C=
c.10631C= (p.Thr3544=)
2g.73572505C>GCA349169ALMS1c.10247C>G (p.Thr3416Ser)
c.3333C>G
c.7528C>G
c.4694C>G (p.Thr1565Ser)
c.7573C>G
c.10628C>G (p.Thr3543Ser)
c.782C>G (p.Thr261Ser)
c.1984C>G
c.16C>G
c.1725C>G
c.4119C>G (n.4119C>G)
c.10502C>G (p.Thr3501Ser)
n.4431C>G
c.10631C>G (p.Thr3544Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572505C>TCA347284297ALMS1c.10247C>T (p.Thr3416Ile)
c.3333C>T
c.7528C>T
c.4694C>T (p.Thr1565Ile)
c.7573C>T
c.10628C>T (p.Thr3543Ile)
c.782C>T (p.Thr261Ile)
c.1984C>T
c.16C>T
c.1725C>T
c.4119C>T (n.4119C>T)
c.10502C>T (p.Thr3501Ile)
n.4431C>T
c.10631C>T (p.Thr3544Ile)
2g.73572506C>ACA427024046ALMS1c.10248C>A (p.Thr3416=)
c.3334C>A
c.7529C>A
c.4695C>A (p.Thr1565=)
c.7574C>A
c.10629C>A (p.Thr3543=)
c.783C>A (p.Thr261=)
c.1985C>A
c.17C>A
c.1726C>A
c.4120C>A (n.4120C>A)
c.10503C>A (p.Thr3501=)
n.4432C>A
c.10632C>A (p.Thr3544=)
2g.73572506C=CA1261021242ALMS1c.10248C= (p.Thr3416=)
c.3334C=
c.7529C=
c.4695C= (p.Thr1565=)
c.7574C=
c.10629C= (p.Thr3543=)
c.783C= (p.Thr261=)
c.1985C=
c.17C=
c.1726C=
c.4120C= (n.4120C=)
c.10503C= (p.Thr3501=)
n.4432C=
c.10632C= (p.Thr3544=)
2g.73572506C>GCA427024047ALMS1c.10248C>G (p.Thr3416=)
c.3334C>G
c.7529C>G
c.4695C>G (p.Thr1565=)
c.7574C>G
c.10629C>G (p.Thr3543=)
c.783C>G (p.Thr261=)
c.1985C>G
c.17C>G
c.1726C>G
c.4120C>G (n.4120C>G)
c.10503C>G (p.Thr3501=)
n.4432C>G
c.10632C>G (p.Thr3544=)
 ClinVar dbSNP gnomAD v4
2g.73572506C>TCA427024048ALMS1c.10248C>T (p.Thr3416=)
c.3334C>T
c.7529C>T
c.4695C>T (p.Thr1565=)
c.7574C>T
c.10629C>T (p.Thr3543=)
c.783C>T (p.Thr261=)
c.1985C>T
c.17C>T
c.1726C>T
c.4120C>T (n.4120C>T)
c.10503C>T (p.Thr3501=)
n.4432C>T
c.10632C>T (p.Thr3544=)
 gnomAD v4
2g.73572507A=CA1261021243ALMS1c.10249A= (p.Arg3417=)
c.3335A=
c.7530A=
c.4696A= (p.Arg1566=)
c.7575A=
c.10630A= (p.Arg3544=)
c.784A= (p.Arg262=)
c.1986A=
c.18A=
c.1727A=
c.4121A= (n.4121A=)
c.10504A= (p.Arg3502=)
n.4433A=
c.10633A= (p.Arg3545=)
2g.73572507A>CCA427024051ALMS1c.10249A>C (p.Arg3417=)
c.3335A>C
c.7530A>C
c.4696A>C (p.Arg1566=)
c.7575A>C
c.10630A>C (p.Arg3544=)
c.784A>C (p.Arg262=)
c.1986A>C
c.18A>C
c.1727A>C
c.4121A>C (n.4121A>C)
c.10504A>C (p.Arg3502=)
n.4433A>C
c.10633A>C (p.Arg3545=)
2g.73572507A>GCA1715037ALMS1c.10249A>G (p.Arg3417Gly)
c.3335A>G
c.7530A>G
c.4696A>G (p.Arg1566Gly)
c.7575A>G
c.10630A>G (p.Arg3544Gly)
c.784A>G (p.Arg262Gly)
c.1986A>G
c.18A>G
c.1727A>G
c.4121A>G (n.4121A>G)
c.10504A>G (p.Arg3502Gly)
n.4433A>G
c.10633A>G (p.Arg3545Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572507A>TCA347284304ALMS1c.10249A>T (p.Arg3417Ter)
c.3335A>T
c.7530A>T
c.4696A>T (p.Arg1566Ter)
c.7575A>T
c.10630A>T (p.Arg3544Ter)
c.784A>T (p.Arg262Ter)
c.1986A>T
c.18A>T
c.1727A>T
c.4121A>T (n.4121A>T)
c.10504A>T (p.Arg3502Ter)
n.4433A>T
c.10633A>T (p.Arg3545Ter)
2g.73572508G>ACA347284309ALMS1c.10250G>A (p.Arg3417Lys)
c.3336G>A
c.7531G>A
c.4697G>A (p.Arg1566Lys)
c.7576G>A
c.10631G>A (p.Arg3544Lys)
c.785G>A (p.Arg262Lys)
c.1987G>A
c.19G>A
c.1728G>A
c.4122G>A (n.4122G>A)
c.10505G>A (p.Arg3502Lys)
n.4434G>A
c.10634G>A (p.Arg3545Lys)
2g.73572508G>CCA347284311ALMS1c.10250G>C (p.Arg3417Thr)
c.3336G>C
c.7531G>C
c.4697G>C (p.Arg1566Thr)
c.7576G>C
c.10631G>C (p.Arg3544Thr)
c.785G>C (p.Arg262Thr)
c.1987G>C
c.19G>C
c.1728G>C
c.4122G>C (n.4122G>C)
c.10505G>C (p.Arg3502Thr)
n.4434G>C
c.10634G>C (p.Arg3545Thr)
2g.73572508G>TCA347284322ALMS1c.10250G>T (p.Arg3417Ile)
c.3336G>T
c.7531G>T
c.4697G>T (p.Arg1566Ile)
c.7576G>T
c.10631G>T (p.Arg3544Ile)
c.785G>T (p.Arg262Ile)
c.1987G>T
c.19G>T
c.1728G>T
c.4122G>T (n.4122G>T)
c.10505G>T (p.Arg3502Ile)
n.4434G>T
c.10634G>T (p.Arg3545Ile)
2g.73572509A>CCA347284324ALMS1c.10251A>C (p.Arg3417Ser)
c.3337A>C
c.7532A>C
c.4698A>C (p.Arg1566Ser)
c.7577A>C
c.10632A>C (p.Arg3544Ser)
c.786A>C (p.Arg262Ser)
c.1988A>C
c.20A>C
c.1729A>C
c.4123A>C (n.4123A>C)
c.10506A>C (p.Arg3502Ser)
n.4435A>C
c.10635A>C (p.Arg3545Ser)
2g.73572509A>GCA427024056ALMS1c.10251A>G (p.Arg3417=)
c.3337A>G
c.7532A>G
c.4698A>G (p.Arg1566=)
c.7577A>G
c.10632A>G (p.Arg3544=)
c.786A>G (p.Arg262=)
c.1988A>G
c.20A>G
c.1729A>G
c.4123A>G (n.4123A>G)
c.10506A>G (p.Arg3502=)
n.4435A>G
c.10635A>G (p.Arg3545=)
 ClinVar
2g.73572509A>TCA347284326ALMS1c.10251A>T (p.Arg3417Ser)
c.3337A>T
c.7532A>T
c.4698A>T (p.Arg1566Ser)
c.7577A>T
c.10632A>T (p.Arg3544Ser)
c.786A>T (p.Arg262Ser)
c.1988A>T
c.20A>T
c.1729A>T
c.4123A>T (n.4123A>T)
c.10506A>T (p.Arg3502Ser)
n.4435A>T
c.10635A>T (p.Arg3545Ser)
2g.73572510A>CCA347284329ALMS1c.10252A>C (p.Ile3418Leu)
c.3338A>C
c.7533A>C
c.4699A>C (p.Ile1567Leu)
c.7578A>C
c.10633A>C (p.Ile3545Leu)
c.787A>C (p.Ile263Leu)
c.1989A>C
c.21A>C
c.1730A>C
c.4124A>C (n.4124A>C)
c.10507A>C (p.Ile3503Leu)
n.4436A>C
c.10636A>C (p.Ile3546Leu)
2g.73572510A>GCA347284332ALMS1c.10252A>G (p.Ile3418Val)
c.3338A>G
c.7533A>G
c.4699A>G (p.Ile1567Val)
c.7578A>G
c.10633A>G (p.Ile3545Val)
c.787A>G (p.Ile263Val)
c.1989A>G
c.21A>G
c.1730A>G
c.4124A>G (n.4124A>G)
c.10507A>G (p.Ile3503Val)
n.4436A>G
c.10636A>G (p.Ile3546Val)
2g.73572510A>TCA347284336ALMS1c.10252A>T (p.Ile3418Leu)
c.3338A>T
c.7533A>T
c.4699A>T (p.Ile1567Leu)
c.7578A>T
c.10633A>T (p.Ile3545Leu)
c.787A>T (p.Ile263Leu)
c.1989A>T
c.21A>T
c.1730A>T
c.4124A>T (n.4124A>T)
c.10507A>T (p.Ile3503Leu)
n.4436A>T
c.10636A>T (p.Ile3546Leu)
2g.73572511T>ACA347284358ALMS1c.10253T>A (p.Ile3418Lys)
c.3339T>A
c.7534T>A
c.4700T>A (p.Ile1567Lys)
c.7579T>A
c.10634T>A (p.Ile3545Lys)
c.788T>A (p.Ile263Lys)
c.1990T>A
c.22T>A
c.1731T>A
c.4125T>A (n.4125T>A)
c.10508T>A (p.Ile3503Lys)
n.4437T>A
c.10637T>A (p.Ile3546Lys)
2g.73572511T>CCA347284354ALMS1c.10253T>C (p.Ile3418Thr)
c.3339T>C
c.7534T>C
c.4700T>C (p.Ile1567Thr)
c.7579T>C
c.10634T>C (p.Ile3545Thr)
c.788T>C (p.Ile263Thr)
c.1990T>C
c.22T>C
c.1731T>C
c.4125T>C (n.4125T>C)
c.10508T>C (p.Ile3503Thr)
n.4437T>C
c.10637T>C (p.Ile3546Thr)
2g.73572511T>GCA347284340ALMS1c.10253T>G (p.Ile3418Arg)
c.3339T>G
c.7534T>G
c.4700T>G (p.Ile1567Arg)
c.7579T>G
c.10634T>G (p.Ile3545Arg)
c.788T>G (p.Ile263Arg)
c.1990T>G
c.22T>G
c.1731T>G
c.4125T>G (n.4125T>G)
c.10508T>G (p.Ile3503Arg)
n.4437T>G
c.10637T>G (p.Ile3546Arg)
2g.73572512A=CA1261021244ALMS1c.10254A= (p.Ile3418=)
c.3340A=
c.7535A=
c.4701A= (p.Ile1567=)
c.7580A=
c.10635A= (p.Ile3545=)
c.789A= (p.Ile263=)
c.1991A=
c.23A=
c.1732A=
c.4126A= (n.4126A=)
c.10509A= (p.Ile3503=)
n.4438A=
c.10638A= (p.Ile3546=)
2g.73572512A>CCA427024059ALMS1c.10254A>C (p.Ile3418=)
c.3340A>C
c.7535A>C
c.4701A>C (p.Ile1567=)
c.7580A>C
c.10635A>C (p.Ile3545=)
c.789A>C (p.Ile263=)
c.1991A>C
c.23A>C
c.1732A>C
c.4126A>C (n.4126A>C)
c.10509A>C (p.Ile3503=)
n.4438A>C
c.10638A>C (p.Ile3546=)
2g.73572512A>GCA1715038ALMS1c.10254A>G (p.Ile3418Met)
c.3340A>G
c.7535A>G
c.4701A>G (p.Ile1567Met)
c.7580A>G
c.10635A>G (p.Ile3545Met)
c.789A>G (p.Ile263Met)
c.1991A>G
c.23A>G
c.1732A>G
c.4126A>G (n.4126A>G)
c.10509A>G (p.Ile3503Met)
n.4438A>G
c.10638A>G (p.Ile3546Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572512A>TCA427024062ALMS1c.10254A>T (p.Ile3418=)
c.3340A>T
c.7535A>T
c.4701A>T (p.Ile1567=)
c.7580A>T
c.10635A>T (p.Ile3545=)
c.789A>T (p.Ile263=)
c.1991A>T
c.23A>T
c.1732A>T
c.4126A>T (n.4126A>T)
c.10509A>T (p.Ile3503=)
n.4438A>T
c.10638A>T (p.Ile3546=)
2g.73572513A=CA1261021245ALMS1c.10255A= (p.Lys3419=)
c.3341A=
c.7536A=
c.4702A= (p.Lys1568=)
c.7581A=
c.10636A= (p.Lys3546=)
c.790A= (p.Lys264=)
c.1992A=
c.24A=
c.1733A=
c.4127A= (n.4127A=)
c.10510A= (p.Lys3504=)
n.4439A=
c.10639A= (p.Lys3547=)
2g.73572513A>CCA347284365ALMS1c.10255A>C (p.Lys3419Gln)
c.3341A>C
c.7536A>C
c.4702A>C (p.Lys1568Gln)
c.7581A>C
c.10636A>C (p.Lys3546Gln)
c.790A>C (p.Lys264Gln)
c.1992A>C
c.24A>C
c.1733A>C
c.4127A>C (n.4127A>C)
c.10510A>C (p.Lys3504Gln)
n.4439A>C
c.10639A>C (p.Lys3547Gln)
2g.73572513A>GCA347284368ALMS1c.10255A>G (p.Lys3419Glu)
c.3341A>G
c.7536A>G
c.4702A>G (p.Lys1568Glu)
c.7581A>G
c.10636A>G (p.Lys3546Glu)
c.790A>G (p.Lys264Glu)
c.1992A>G
c.24A>G
c.1733A>G
c.4127A>G (n.4127A>G)
c.10510A>G (p.Lys3504Glu)
n.4439A>G
c.10639A>G (p.Lys3547Glu)
 dbSNP
2g.73572513A>TCA347284370ALMS1c.10255A>T (p.Lys3419Ter)
c.3341A>T
c.7536A>T
c.4702A>T (p.Lys1568Ter)
c.7581A>T
c.10636A>T (p.Lys3546Ter)
c.790A>T (p.Lys264Ter)
c.1992A>T
c.24A>T
c.1733A>T
c.4127A>T (n.4127A>T)
c.10510A>T (p.Lys3504Ter)
n.4439A>T
c.10639A>T (p.Lys3547Ter)
2g.73572514A>CCA347284375ALMS1c.10256A>C (p.Lys3419Thr)
c.3342A>C
c.7537A>C
c.4703A>C (p.Lys1568Thr)
c.7582A>C
c.10637A>C (p.Lys3546Thr)
c.791A>C (p.Lys264Thr)
c.1993A>C
c.25A>C
c.1734A>C
c.4128A>C (n.4128A>C)
c.10511A>C (p.Lys3504Thr)
n.4440A>C
c.10640A>C (p.Lys3547Thr)
2g.73572514A>GCA347284379ALMS1c.10256A>G (p.Lys3419Arg)
c.3342A>G
c.7537A>G
c.4703A>G (p.Lys1568Arg)
c.7582A>G
c.10637A>G (p.Lys3546Arg)
c.791A>G (p.Lys264Arg)
c.1993A>G
c.25A>G
c.1734A>G
c.4128A>G (n.4128A>G)
c.10511A>G (p.Lys3504Arg)
n.4440A>G
c.10640A>G (p.Lys3547Arg)
2g.73572514A>TCA347284382ALMS1c.10256A>T (p.Lys3419Met)
c.3342A>T
c.7537A>T
c.4703A>T (p.Lys1568Met)
c.7582A>T
c.10637A>T (p.Lys3546Met)
c.791A>T (p.Lys264Met)
c.1993A>T
c.25A>T
c.1734A>T
c.4128A>T (n.4128A>T)
c.10511A>T (p.Lys3504Met)
n.4440A>T
c.10640A>T (p.Lys3547Met)
2g.73572515G>ACA427024068ALMS1c.10257G>A (p.Lys3419=)
c.3343G>A
c.7538G>A
c.4704G>A (p.Lys1568=)
c.7583G>A
c.10638G>A (p.Lys3546=)
c.792G>A (p.Lys264=)
c.1994G>A
c.26G>A
c.1735G>A
c.4129G>A (n.4129G>A)
c.10512G>A (p.Lys3504=)
n.4441G>A
c.10641G>A (p.Lys3547=)
 gnomAD v4
2g.73572515G>CCA347284389ALMS1c.10257G>C (p.Lys3419Asn)
c.3343G>C
c.7538G>C
c.4704G>C (p.Lys1568Asn)
c.7583G>C
c.10638G>C (p.Lys3546Asn)
c.792G>C (p.Lys264Asn)
c.1994G>C
c.26G>C
c.1735G>C
c.4129G>C (n.4129G>C)
c.10512G>C (p.Lys3504Asn)
n.4441G>C
c.10641G>C (p.Lys3547Asn)
 gnomAD v4
2g.73572515G>TCA347284393ALMS1c.10257G>T (p.Lys3419Asn)
c.3343G>T
c.7538G>T
c.4704G>T (p.Lys1568Asn)
c.7583G>T
c.10638G>T (p.Lys3546Asn)
c.792G>T (p.Lys264Asn)
c.1994G>T
c.26G>T
c.1735G>T
c.4129G>T (n.4129G>T)
c.10512G>T (p.Lys3504Asn)
n.4441G>T
c.10641G>T (p.Lys3547Asn)
2g.73572516A=CA1261021246ALMS1c.10258A= (p.Ser3420=)
c.3344A=
c.7539A=
c.4705A= (p.Ser1569=)
c.7584A=
c.10639A= (p.Ser3547=)
c.793A= (p.Ser265=)
c.1995A=
c.27A=
c.1736A=
c.4130A= (n.4130A=)
c.10513A= (p.Ser3505=)
n.4442A=
c.10642A= (p.Ser3548=)
2g.73572516A>CCA347284398ALMS1c.10258A>C (p.Ser3420Arg)
c.3344A>C
c.7539A>C
c.4705A>C (p.Ser1569Arg)
c.7584A>C
c.10639A>C (p.Ser3547Arg)
c.793A>C (p.Ser265Arg)
c.1995A>C
c.27A>C
c.1736A>C
c.4130A>C (n.4130A>C)
c.10513A>C (p.Ser3505Arg)
n.4442A>C
c.10642A>C (p.Ser3548Arg)
2g.73572516A>GCA347284401ALMS1c.10258A>G (p.Ser3420Gly)
c.3344A>G
c.7539A>G
c.4705A>G (p.Ser1569Gly)
c.7584A>G
c.10639A>G (p.Ser3547Gly)
c.793A>G (p.Ser265Gly)
c.1995A>G
c.27A>G
c.1736A>G
c.4130A>G (n.4130A>G)
c.10513A>G (p.Ser3505Gly)
n.4442A>G
c.10642A>G (p.Ser3548Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.73572516A>TCA347284404ALMS1c.10258A>T (p.Ser3420Cys)
c.3344A>T
c.7539A>T
c.4705A>T (p.Ser1569Cys)
c.7584A>T
c.10639A>T (p.Ser3547Cys)
c.793A>T (p.Ser265Cys)
c.1995A>T
c.27A>T
c.1736A>T
c.4130A>T (n.4130A>T)
c.10513A>T (p.Ser3505Cys)
n.4442A>T
c.10642A>T (p.Ser3548Cys)
2g.73572517G>ACA347284413ALMS1c.10259G>A (p.Ser3420Asn)
c.3345G>A
c.7540G>A
c.4706G>A (p.Ser1569Asn)
c.7585G>A
c.10640G>A (p.Ser3547Asn)
c.794G>A (p.Ser265Asn)
c.1996G>A
c.28G>A
c.1737G>A
c.4131G>A (n.4131G>A)
c.10514G>A (p.Ser3505Asn)
n.4443G>A
c.10643G>A (p.Ser3548Asn)
2g.73572517G>CCA347284416ALMS1c.10259G>C (p.Ser3420Thr)
c.3345G>C
c.7540G>C
c.4706G>C (p.Ser1569Thr)
c.7585G>C
c.10640G>C (p.Ser3547Thr)
c.794G>C (p.Ser265Thr)
c.1996G>C
c.28G>C
c.1737G>C
c.4131G>C (n.4131G>C)
c.10514G>C (p.Ser3505Thr)
n.4443G>C
c.10643G>C (p.Ser3548Thr)
2g.73572517G>TCA347284410ALMS1c.10259G>T (p.Ser3420Ile)
c.3345G>T
c.7540G>T
c.4706G>T (p.Ser1569Ile)
c.7585G>T
c.10640G>T (p.Ser3547Ile)
c.794G>T (p.Ser265Ile)
c.1996G>T
c.28G>T
c.1737G>T
c.4131G>T (n.4131G>T)
c.10514G>T (p.Ser3505Ile)
n.4443G>T
c.10643G>T (p.Ser3548Ile)
2g.73572518C>ACA347284418ALMS1c.10260C>A (p.Ser3420Arg)
c.3346C>A
c.7541C>A
c.4707C>A (p.Ser1569Arg)
c.7586C>A
c.10641C>A (p.Ser3547Arg)
c.795C>A (p.Ser265Arg)
c.1997C>A
c.29C>A
c.1738C>A
c.4132C>A (n.4132C>A)
c.10515C>A (p.Ser3505Arg)
n.4444C>A
c.10644C>A (p.Ser3548Arg)
2g.73572518C=CA1261021247ALMS1c.10260C= (p.Ser3420=)
c.3346C=
c.7541C=
c.4707C= (p.Ser1569=)
c.7586C=
c.10641C= (p.Ser3547=)
c.795C= (p.Ser265=)
c.1997C=
c.29C=
c.1738C=
c.4132C= (n.4132C=)
c.10515C= (p.Ser3505=)
n.4444C=
c.10644C= (p.Ser3548=)
2g.73572518C>GCA347284419ALMS1c.10260C>G (p.Ser3420Arg)
c.3346C>G
c.7541C>G
c.4707C>G (p.Ser1569Arg)
c.7586C>G
c.10641C>G (p.Ser3547Arg)
c.795C>G (p.Ser265Arg)
c.1997C>G
c.29C>G
c.1738C>G
c.4132C>G (n.4132C>G)
c.10515C>G (p.Ser3505Arg)
n.4444C>G
c.10644C>G (p.Ser3548Arg)
 ClinVar dbSNP gnomAD v4
2g.73572518C>TCA50386318ALMS1c.10260C>T (p.Ser3420=)
c.3346C>T
c.7541C>T
c.4707C>T (p.Ser1569=)
c.7586C>T
c.10641C>T (p.Ser3547=)
c.795C>T (p.Ser265=)
c.1997C>T
c.29C>T
c.1738C>T
c.4132C>T (n.4132C>T)
c.10515C>T (p.Ser3505=)
n.4444C>T
c.10644C>T (p.Ser3548=)
 ClinVar dbSNP gnomAD v4
2g.73572519C>ACA347284425ALMS1c.10261C>A (p.Leu3421Ile)
c.3347C>A
c.7542C>A
c.4708C>A (p.Leu1570Ile)
c.7587C>A
c.10642C>A (p.Leu3548Ile)
c.796C>A (p.Leu266Ile)
c.1998C>A
c.30C>A
c.1739C>A
c.4133C>A (n.4133C>A)
c.10516C>A (p.Leu3506Ile)
n.4445C>A
c.10645C>A (p.Leu3549Ile)
2g.73572519C=CA1261021248ALMS1c.10261C= (p.Leu3421=)
c.3347C=
c.7542C=
c.4708C= (p.Leu1570=)
c.7587C=
c.10642C= (p.Leu3548=)
c.796C= (p.Leu266=)
c.1998C=
c.30C=
c.1739C=
c.4133C= (n.4133C=)
c.10516C= (p.Leu3506=)
n.4445C=
c.10645C= (p.Leu3549=)
2g.73572519C>GCA347284428ALMS1c.10261C>G (p.Leu3421Val)
c.3347C>G
c.7542C>G
c.4708C>G (p.Leu1570Val)
c.7587C>G
c.10642C>G (p.Leu3548Val)
c.796C>G (p.Leu266Val)
c.1998C>G
c.30C>G
c.1739C>G
c.4133C>G (n.4133C>G)
c.10516C>G (p.Leu3506Val)
n.4445C>G
c.10645C>G (p.Leu3549Val)
2g.73572519C>TCA50386332ALMS1c.10261C>T (p.Leu3421Phe)
c.3347C>T
c.7542C>T
c.4708C>T (p.Leu1570Phe)
c.7587C>T
c.10642C>T (p.Leu3548Phe)
c.796C>T (p.Leu266Phe)
c.1998C>T
c.30C>T
c.1739C>T
c.4133C>T (n.4133C>T)
c.10516C>T (p.Leu3506Phe)
n.4445C>T
c.10645C>T (p.Leu3549Phe)
 dbSNP gnomAD v4
2g.73572520T>ACA347284441ALMS1c.10262T>A (p.Leu3421His)
c.3348T>A
c.7543T>A
c.4709T>A (p.Leu1570His)
c.7588T>A
c.10643T>A (p.Leu3548His)
c.797T>A (p.Leu266His)
c.1999T>A
c.31T>A
c.1740T>A
c.4134T>A (n.4134T>A)
c.10517T>A (p.Leu3506His)
n.4446T>A
c.10646T>A (p.Leu3549His)
 ClinVar dbSNP
2g.73572520T>CCA347284435ALMS1c.10262T>C (p.Leu3421Pro)
c.3348T>C
c.7543T>C
c.4709T>C (p.Leu1570Pro)
c.7588T>C
c.10643T>C (p.Leu3548Pro)
c.797T>C (p.Leu266Pro)
c.1999T>C
c.31T>C
c.1740T>C
c.4134T>C (n.4134T>C)
c.10517T>C (p.Leu3506Pro)
n.4446T>C
c.10646T>C (p.Leu3549Pro)
2g.73572520T>GCA347284439ALMS1c.10262T>G (p.Leu3421Arg)
c.3348T>G
c.7543T>G
c.4709T>G (p.Leu1570Arg)
c.7588T>G
c.10643T>G (p.Leu3548Arg)
c.797T>G (p.Leu266Arg)
c.1999T>G
c.31T>G
c.1740T>G
c.4134T>G (n.4134T>G)
c.10517T>G (p.Leu3506Arg)
n.4446T>G
c.10646T>G (p.Leu3549Arg)
2g.73572520T=CA1261021249ALMS1c.10262T= (p.Leu3421=)
c.3348T=
c.7543T=
c.4709T= (p.Leu1570=)
c.7588T=
c.10643T= (p.Leu3548=)
c.797T= (p.Leu266=)
c.1999T=
c.31T=
c.1740T=
c.4134T= (n.4134T=)
c.10517T= (p.Leu3506=)
n.4446T=
c.10646T= (p.Leu3549=)
2g.73572521C>ACA427024074ALMS1c.10263C>A (p.Leu3421=)
c.3349C>A
c.7544C>A
c.4710C>A (p.Leu1570=)
c.7589C>A
c.10644C>A (p.Leu3548=)
c.798C>A (p.Leu266=)
c.2000C>A
c.32C>A
c.1741C>A
c.4135C>A (n.4135C>A)
c.10518C>A (p.Leu3506=)
n.4447C>A
c.10647C>A (p.Leu3549=)
2g.73572521C=CA1261021250ALMS1c.10263C= (p.Leu3421=)
c.3349C=
c.7544C=
c.4710C= (p.Leu1570=)
c.7589C=
c.10644C= (p.Leu3548=)
c.798C= (p.Leu266=)
c.2000C=
c.32C=
c.1741C=
c.4135C= (n.4135C=)
c.10518C= (p.Leu3506=)
n.4447C=
c.10647C= (p.Leu3549=)
2g.73572521C>GCA427024075ALMS1c.10263C>G (p.Leu3421=)
c.3349C>G
c.7544C>G
c.4710C>G (p.Leu1570=)
c.7589C>G
c.10644C>G (p.Leu3548=)
c.798C>G (p.Leu266=)
c.2000C>G
c.32C>G
c.1741C>G
c.4135C>G (n.4135C>G)
c.10518C>G (p.Leu3506=)
n.4447C>G
c.10647C>G (p.Leu3549=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572521C>TCA427024076ALMS1c.10263C>T (p.Leu3421=)
c.3349C>T
c.7544C>T
c.4710C>T (p.Leu1570=)
c.7589C>T
c.10644C>T (p.Leu3548=)
c.798C>T (p.Leu266=)
c.2000C>T
c.32C>T
c.1741C>T
c.4135C>T (n.4135C>T)
c.10518C>T (p.Leu3506=)
n.4447C>T
c.10647C>T (p.Leu3549=)
2g.73572522A>CCA347284444ALMS1c.10264A>C (p.Ser3422Arg)
c.3350A>C
c.7545A>C
c.4711A>C (p.Ser1571Arg)
c.7590A>C
c.10645A>C (p.Ser3549Arg)
c.799A>C (p.Ser267Arg)
c.2001A>C
c.33A>C
c.1742A>C
c.4136A>C (n.4136A>C)
c.10519A>C (p.Ser3507Arg)
n.4448A>C
c.10648A>C (p.Ser3550Arg)
2g.73572522A>GCA347284446ALMS1c.10264A>G (p.Ser3422Gly)
c.3350A>G
c.7545A>G
c.4711A>G (p.Ser1571Gly)
c.7590A>G
c.10645A>G (p.Ser3549Gly)
c.799A>G (p.Ser267Gly)
c.2001A>G
c.33A>G
c.1742A>G
c.4136A>G (n.4136A>G)
c.10519A>G (p.Ser3507Gly)
n.4448A>G
c.10648A>G (p.Ser3550Gly)
2g.73572522A>TCA347284448ALMS1c.10264A>T (p.Ser3422Cys)
c.3350A>T
c.7545A>T
c.4711A>T (p.Ser1571Cys)
c.7590A>T
c.10645A>T (p.Ser3549Cys)
c.799A>T (p.Ser267Cys)
c.2001A>T
c.33A>T
c.1742A>T
c.4136A>T (n.4136A>T)
c.10519A>T (p.Ser3507Cys)
n.4448A>T
c.10648A>T (p.Ser3550Cys)
2g.73572523G>ACA347284451ALMS1c.10265G>A (p.Ser3422Asn)
c.3351G>A
c.7546G>A
c.4712G>A (p.Ser1571Asn)
c.7591G>A
c.10646G>A (p.Ser3549Asn)
c.800G>A (p.Ser267Asn)
c.2002G>A
c.34G>A
c.1743G>A
c.4137G>A (n.4137G>A)
c.10520G>A (p.Ser3507Asn)
n.4449G>A
c.10649G>A (p.Ser3550Asn)
2g.73572523G>CCA347284453ALMS1c.10265G>C (p.Ser3422Thr)
c.3351G>C
c.7546G>C
c.4712G>C (p.Ser1571Thr)
c.7591G>C
c.10646G>C (p.Ser3549Thr)
c.800G>C (p.Ser267Thr)
c.2002G>C
c.34G>C
c.1743G>C
c.4137G>C (n.4137G>C)
c.10520G>C (p.Ser3507Thr)
n.4449G>C
c.10649G>C (p.Ser3550Thr)
2g.73572523G>TCA347284456ALMS1c.10265G>T (p.Ser3422Ile)
c.3351G>T
c.7546G>T
c.4712G>T (p.Ser1571Ile)
c.7591G>T
c.10646G>T (p.Ser3549Ile)
c.800G>T (p.Ser267Ile)
c.2002G>T
c.34G>T
c.1743G>T
c.4137G>T (n.4137G>T)
c.10520G>T (p.Ser3507Ile)
n.4449G>T
c.10649G>T (p.Ser3550Ile)
2g.73572524C>ACA347284461ALMS1c.10266C>A (p.Ser3422Arg)
c.3352C>A
c.7547C>A
c.4713C>A (p.Ser1571Arg)
c.7592C>A
c.10647C>A (p.Ser3549Arg)
c.801C>A (p.Ser267Arg)
c.2003C>A
c.35C>A
c.1744C>A
c.4138C>A (n.4138C>A)
c.10521C>A (p.Ser3507Arg)
n.4450C>A
c.10650C>A (p.Ser3550Arg)
2g.73572524C=CA1261021252ALMS1c.10266C= (p.Ser3422=)
c.3352C=
c.7547C=
c.4713C= (p.Ser1571=)
c.7592C=
c.10647C= (p.Ser3549=)
c.801C= (p.Ser267=)
c.2003C=
c.35C=
c.1744C=
c.4138C= (n.4138C=)
c.10521C= (p.Ser3507=)
n.4450C=
c.10650C= (p.Ser3550=)
2g.73572524C>GCA347284463ALMS1c.10266C>G (p.Ser3422Arg)
c.3352C>G
c.7547C>G
c.4713C>G (p.Ser1571Arg)
c.7592C>G
c.10647C>G (p.Ser3549Arg)
c.801C>G (p.Ser267Arg)
c.2003C>G
c.35C>G
c.1744C>G
c.4138C>G (n.4138C>G)
c.10521C>G (p.Ser3507Arg)
n.4450C>G
c.10650C>G (p.Ser3550Arg)
2g.73572524C>TCA50386340ALMS1c.10266C>T (p.Ser3422=)
c.3352C>T
c.7547C>T
c.4713C>T (p.Ser1571=)
c.7592C>T
c.10647C>T (p.Ser3549=)
c.801C>T (p.Ser267=)
c.2003C>T
c.35C>T
c.1744C>T
c.4138C>T (n.4138C>T)
c.10521C>T (p.Ser3507=)
n.4450C>T
c.10650C>T (p.Ser3550=)
 dbSNP gnomAD v3 gnomAD v4
2g.73572525A=CA1261021254ALMS1c.10267A= (p.Ile3423=)
c.3353A=
c.7548A=
c.4714A= (p.Ile1572=)
c.7593A=
c.10648A= (p.Ile3550=)
c.802A= (p.Ile268=)
c.2004A=
c.36A=
c.1745A=
c.4139A= (n.4139A=)
c.10522A= (p.Ile3508=)
n.4451A=
c.10651A= (p.Ile3551=)
2g.73572525A>CCA1715039ALMS1c.10267A>C (p.Ile3423Leu)
c.3353A>C
c.7548A>C
c.4714A>C (p.Ile1572Leu)
c.7593A>C
c.10648A>C (p.Ile3550Leu)
c.802A>C (p.Ile268Leu)
c.2004A>C
c.36A>C
c.1745A>C
c.4139A>C (n.4139A>C)
c.10522A>C (p.Ile3508Leu)
n.4451A>C
c.10651A>C (p.Ile3551Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572525A>GCA347284474ALMS1c.10267A>G (p.Ile3423Val)
c.3353A>G
c.7548A>G
c.4714A>G (p.Ile1572Val)
c.7593A>G
c.10648A>G (p.Ile3550Val)
c.802A>G (p.Ile268Val)
c.2004A>G
c.36A>G
c.1745A>G
c.4139A>G (n.4139A>G)
c.10522A>G (p.Ile3508Val)
n.4451A>G
c.10651A>G (p.Ile3551Val)
 dbSNP gnomAD v4
2g.73572525A>TCA347284470ALMS1c.10267A>T (p.Ile3423Phe)
c.3353A>T
c.7548A>T
c.4714A>T (p.Ile1572Phe)
c.7593A>T
c.10648A>T (p.Ile3550Phe)
c.802A>T (p.Ile268Phe)
c.2004A>T
c.36A>T
c.1745A>T
c.4139A>T (n.4139A>T)
c.10522A>T (p.Ile3508Phe)
n.4451A>T
c.10651A>T (p.Ile3551Phe)
2g.73572526T>ACA347284481ALMS1c.10268T>A (p.Ile3423Asn)
c.3354T>A
c.7549T>A
c.4715T>A (p.Ile1572Asn)
c.7594T>A
c.10649T>A (p.Ile3550Asn)
c.803T>A (p.Ile268Asn)
c.2005T>A
c.37T>A
c.1746T>A
c.4140T>A (n.4140T>A)
c.10523T>A (p.Ile3508Asn)
n.4452T>A
c.10652T>A (p.Ile3551Asn)
2g.73572526T>CCA347284490ALMS1c.10268T>C (p.Ile3423Thr)
c.3354T>C
c.7549T>C
c.4715T>C (p.Ile1572Thr)
c.7594T>C
c.10649T>C (p.Ile3550Thr)
c.803T>C (p.Ile268Thr)
c.2005T>C
c.37T>C
c.1746T>C
c.4140T>C (n.4140T>C)
c.10523T>C (p.Ile3508Thr)
n.4452T>C
c.10652T>C (p.Ile3551Thr)
2g.73572526T>GCA347284486ALMS1c.10268T>G (p.Ile3423Ser)
c.3354T>G
c.7549T>G
c.4715T>G (p.Ile1572Ser)
c.7594T>G
c.10649T>G (p.Ile3550Ser)
c.803T>G (p.Ile268Ser)
c.2005T>G
c.37T>G
c.1746T>G
c.4140T>G (n.4140T>G)
c.10523T>G (p.Ile3508Ser)
n.4452T>G
c.10652T>G (p.Ile3551Ser)
2g.73572527C>ACA427024089ALMS1c.10269C>A (p.Ile3423=)
c.3355C>A
c.7550C>A
c.4716C>A (p.Ile1572=)
c.7595C>A
c.10650C>A (p.Ile3550=)
c.804C>A (p.Ile268=)
c.2006C>A
c.38C>A
c.1747C>A
c.4141C>A (n.4141C>A)
c.10524C>A (p.Ile3508=)
n.4453C>A
c.10653C>A (p.Ile3551=)
 dbSNP
2g.73572527C=CA1261021255ALMS1c.10269C= (p.Ile3423=)
c.3355C=
c.7550C=
c.4716C= (p.Ile1572=)
c.7595C=
c.10650C= (p.Ile3550=)
c.804C= (p.Ile268=)
c.2006C=
c.38C=
c.1747C=
c.4141C= (n.4141C=)
c.10524C= (p.Ile3508=)
n.4453C=
c.10653C= (p.Ile3551=)
2g.73572527C>GCA347284494ALMS1c.10269C>G (p.Ile3423Met)
c.3355C>G
c.7550C>G
c.4716C>G (p.Ile1572Met)
c.7595C>G
c.10650C>G (p.Ile3550Met)
c.804C>G (p.Ile268Met)
c.2006C>G
c.38C>G
c.1747C>G
c.4141C>G (n.4141C>G)
c.10524C>G (p.Ile3508Met)
n.4453C>G
c.10653C>G (p.Ile3551Met)
2g.73572527C>TCA427024090ALMS1c.10269C>T (p.Ile3423=)
c.3355C>T
c.7550C>T
c.4716C>T (p.Ile1572=)
c.7595C>T
c.10650C>T (p.Ile3550=)
c.804C>T (p.Ile268=)
c.2006C>T
c.38C>T
c.1747C>T
c.4141C>T (n.4141C>T)
c.10524C>T (p.Ile3508=)
n.4453C>T
c.10653C>T (p.Ile3551=)
 dbSNP
2g.73572528A=CA1261021256ALMS1c.10270A= (p.Asn3424=)
c.3356A=
c.7551A=
c.4717A= (p.Asn1573=)
c.7596A=
c.10651A= (p.Asn3551=)
c.805A= (p.Asn269=)
c.2007A=
c.39A=
c.1748A=
c.4142A= (n.4142A=)
c.10525A= (p.Asn3509=)
n.4454A=
c.10654A= (p.Asn3552=)
2g.73572528A>CCA347284505ALMS1c.10270A>C (p.Asn3424His)
c.3356A>C
c.7551A>C
c.4717A>C (p.Asn1573His)
c.7596A>C
c.10651A>C (p.Asn3551His)
c.805A>C (p.Asn269His)
c.2007A>C
c.39A>C
c.1748A>C
c.4142A>C (n.4142A>C)
c.10525A>C (p.Asn3509His)
n.4454A>C
c.10654A>C (p.Asn3552His)
2g.73572528A>GCA1715040ALMS1c.10270A>G (p.Asn3424Asp)
c.3356A>G
c.7551A>G
c.4717A>G (p.Asn1573Asp)
c.7596A>G
c.10651A>G (p.Asn3551Asp)
c.805A>G (p.Asn269Asp)
c.2007A>G
c.39A>G
c.1748A>G
c.4142A>G (n.4142A>G)
c.10525A>G (p.Asn3509Asp)
n.4454A>G
c.10654A>G (p.Asn3552Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572528A>TCA347284503ALMS1c.10270A>T (p.Asn3424Tyr)
c.3356A>T
c.7551A>T
c.4717A>T (p.Asn1573Tyr)
c.7596A>T
c.10651A>T (p.Asn3551Tyr)
c.805A>T (p.Asn269Tyr)
c.2007A>T
c.39A>T
c.1748A>T
c.4142A>T (n.4142A>T)
c.10525A>T (p.Asn3509Tyr)
n.4454A>T
c.10654A>T (p.Asn3552Tyr)
2g.73572529dupCA1261021257ALMS1c.10271dup (p.Asn3424LysfsTer14)
c.3357dup
c.7552dup
c.4718dup (p.Asn1573LysfsTer14)
c.7597dup
c.10652dup (p.Asn3551LysfsTer14)
c.806dup (p.Asn269LysfsTer14)
c.2008dup
c.40dup
c.1749dup
c.4143dup (n.4143dup)
c.10526dup (p.Asn3509LysfsTer14)
n.4455dup
c.10655dup (p.Asn3552LysfsTer14)
 ClinVar dbSNP gnomAD v4
2g.73572529A=CA1261021258ALMS1c.10271A= (p.Asn3424=)
c.3357A=
c.7552A=
c.4718A= (p.Asn1573=)
c.7597A=
c.10652A= (p.Asn3551=)
c.806A= (p.Asn269=)
c.2008A=
c.40A=
c.1749A=
c.4143A= (n.4143A=)
c.10526A= (p.Asn3509=)
n.4455A=
c.10655A= (p.Asn3552=)
2g.73572529A>CCA347284511ALMS1c.10271A>C (p.Asn3424Thr)
c.3357A>C
c.7552A>C
c.4718A>C (p.Asn1573Thr)
c.7597A>C
c.10652A>C (p.Asn3551Thr)
c.806A>C (p.Asn269Thr)
c.2008A>C
c.40A>C
c.1749A>C
c.4143A>C (n.4143A>C)
c.10526A>C (p.Asn3509Thr)
n.4455A>C
c.10655A>C (p.Asn3552Thr)
2g.73572529A>GCA50386346ALMS1c.10271A>G (p.Asn3424Ser)
c.3357A>G
c.7552A>G
c.4718A>G (p.Asn1573Ser)
c.7597A>G
c.10652A>G (p.Asn3551Ser)
c.806A>G (p.Asn269Ser)
c.2008A>G
c.40A>G
c.1749A>G
c.4143A>G (n.4143A>G)
c.10526A>G (p.Asn3509Ser)
n.4455A>G
c.10655A>G (p.Asn3552Ser)
 ClinVar dbSNP gnomAD v4
2g.73572529A>TCA347284516ALMS1c.10271A>T (p.Asn3424Ile)
c.3357A>T
c.7552A>T
c.4718A>T (p.Asn1573Ile)
c.7597A>T
c.10652A>T (p.Asn3551Ile)
c.806A>T (p.Asn269Ile)
c.2008A>T
c.40A>T
c.1749A>T
c.4143A>T (n.4143A>T)
c.10526A>T (p.Asn3509Ile)
n.4455A>T
c.10655A>T (p.Asn3552Ile)
 dbSNP
2g.73572530T>ACA347284519ALMS1c.10272T>A (p.Asn3424Lys)
c.3358T>A
c.7553T>A
c.4719T>A (p.Asn1573Lys)
c.7598T>A
c.10653T>A (p.Asn3551Lys)
c.807T>A (p.Asn269Lys)
c.2009T>A
c.41T>A
c.1750T>A
c.4144T>A (n.4144T>A)
c.10527T>A (p.Asn3509Lys)
n.4456T>A
c.10656T>A (p.Asn3552Lys)
2g.73572530T>CCA427024096ALMS1c.10272T>C (p.Asn3424=)
c.3358T>C
c.7553T>C
c.4719T>C (p.Asn1573=)
c.7598T>C
c.10653T>C (p.Asn3551=)
c.807T>C (p.Asn269=)
c.2009T>C
c.41T>C
c.1750T>C
c.4144T>C (n.4144T>C)
c.10527T>C (p.Asn3509=)
n.4456T>C
c.10656T>C (p.Asn3552=)
2g.73572530T>GCA347284521ALMS1c.10272T>G (p.Asn3424Lys)
c.3358T>G
c.7553T>G
c.4719T>G (p.Asn1573Lys)
c.7598T>G
c.10653T>G (p.Asn3551Lys)
c.807T>G (p.Asn269Lys)
c.2009T>G
c.41T>G
c.1750T>G
c.4144T>G (n.4144T>G)
c.10527T>G (p.Asn3509Lys)
n.4456T>G
c.10656T>G (p.Asn3552Lys)
2g.73572530_73572531insACACA2750467773ALMS1c.10272_10273insACA (p.Asn3424_Val3425insThr)
c.3358_3359insACA
c.7553_7554insACA
c.4719_4720insACA (p.Asn1573_Val1574insThr)
c.7598_7599insACA
c.10653_10654insACA (p.Asn3551_Val3552insThr)
c.807_808insACA (p.Asn269_Val270insThr)
c.2009_2010insACA
c.41_42insACA
c.1750_1751insACA
c.4144_4145insACA (n.4144_4145insACA)
c.10527_10528insACA (p.Asn3509_Val3510insThr)
n.4456_4457insACA
c.10656_10657insACA (p.Asn3552_Val3553insThr)
2g.73572531G>ACA347284525ALMS1c.10273G>A (p.Val3425Met)
c.3359G>A
c.7554G>A
c.4720G>A (p.Val1574Met)
c.7599G>A
c.10654G>A (p.Val3552Met)
c.808G>A (p.Val270Met)
c.2010G>A
c.42G>A
c.1751G>A
c.4145G>A (n.4145G>A)
c.10528G>A (p.Val3510Met)
n.4457G>A
c.10657G>A (p.Val3553Met)
 gnomAD v4
2g.73572531G>CCA347284529ALMS1c.10273G>C (p.Val3425Leu)
c.3359G>C
c.7554G>C
c.4720G>C (p.Val1574Leu)
c.7599G>C
c.10654G>C (p.Val3552Leu)
c.808G>C (p.Val270Leu)
c.2010G>C
c.42G>C
c.1751G>C
c.4145G>C (n.4145G>C)
c.10528G>C (p.Val3510Leu)
n.4457G>C
c.10657G>C (p.Val3553Leu)
2g.73572531G>TCA347284530ALMS1c.10273G>T (p.Val3425Leu)
c.3359G>T
c.7554G>T
c.4720G>T (p.Val1574Leu)
c.7599G>T
c.10654G>T (p.Val3552Leu)
c.808G>T (p.Val270Leu)
c.2010G>T
c.42G>T
c.1751G>T
c.4145G>T (n.4145G>T)
c.10528G>T (p.Val3510Leu)
n.4457G>T
c.10657G>T (p.Val3553Leu)
 gnomAD v4
2g.73572532T>ACA347284534ALMS1c.10274T>A (p.Val3425Glu)
c.3360T>A
c.7555T>A
c.4721T>A (p.Val1574Glu)
c.7600T>A
c.10655T>A (p.Val3552Glu)
c.809T>A (p.Val270Glu)
c.2011T>A
c.43T>A
c.1752T>A
c.4146T>A (n.4146T>A)
c.10529T>A (p.Val3510Glu)
n.4458T>A
c.10658T>A (p.Val3553Glu)
2g.73572532T>CCA347284535ALMS1c.10274T>C (p.Val3425Ala)
c.3360T>C
c.7555T>C
c.4721T>C (p.Val1574Ala)
c.7600T>C
c.10655T>C (p.Val3552Ala)
c.809T>C (p.Val270Ala)
c.2011T>C
c.43T>C
c.1752T>C
c.4146T>C (n.4146T>C)
c.10529T>C (p.Val3510Ala)
n.4458T>C
c.10658T>C (p.Val3553Ala)
2g.73572532T>GCA347284537ALMS1c.10274T>G (p.Val3425Gly)
c.3360T>G
c.7555T>G
c.4721T>G (p.Val1574Gly)
c.7600T>G
c.10655T>G (p.Val3552Gly)
c.809T>G (p.Val270Gly)
c.2011T>G
c.43T>G
c.1752T>G
c.4146T>G (n.4146T>G)
c.10529T>G (p.Val3510Gly)
n.4458T>G
c.10658T>G (p.Val3553Gly)
2g.73572533G>ACA427024102ALMS1c.10275G>A (p.Val3425=)
c.3361G>A
c.7556G>A
c.4722G>A (p.Val1574=)
c.7601G>A
c.10656G>A (p.Val3552=)
c.810G>A (p.Val270=)
c.2012G>A
c.44G>A
c.1753G>A
c.4147G>A (n.4147G>A)
c.10530G>A (p.Val3510=)
n.4459G>A
c.10659G>A (p.Val3553=)
 ClinVar dbSNP
2g.73572533G>CCA427024103ALMS1c.10275G>C (p.Val3425=)
c.3361G>C
c.7556G>C
c.4722G>C (p.Val1574=)
c.7601G>C
c.10656G>C (p.Val3552=)
c.810G>C (p.Val270=)
c.2012G>C
c.44G>C
c.1753G>C
c.4147G>C (n.4147G>C)
c.10530G>C (p.Val3510=)
n.4459G>C
c.10659G>C (p.Val3553=)
2g.73572533G>TCA427024105ALMS1c.10275G>T (p.Val3425=)
c.3361G>T
c.7556G>T
c.4722G>T (p.Val1574=)
c.7601G>T
c.10656G>T (p.Val3552=)
c.810G>T (p.Val270=)
c.2012G>T
c.44G>T
c.1753G>T
c.4147G>T (n.4147G>T)
c.10530G>T (p.Val3510=)
n.4459G>T
c.10659G>T (p.Val3553=)
 gnomAD v4
2g.73572534A>CCA347284541ALMS1c.10276A>C (p.Asn3426His)
c.3362A>C
c.7557A>C
c.4723A>C (p.Asn1575His)
c.7602A>C
c.10657A>C (p.Asn3553His)
c.811A>C (p.Asn271His)
c.2013A>C
c.45A>C
c.1754A>C
c.4148A>C (n.4148A>C)
c.10531A>C (p.Asn3511His)
n.4460A>C
c.10660A>C (p.Asn3554His)
2g.73572534A>GCA347284547ALMS1c.10276A>G (p.Asn3426Asp)
c.3362A>G
c.7557A>G
c.4723A>G (p.Asn1575Asp)
c.7602A>G
c.10657A>G (p.Asn3553Asp)
c.811A>G (p.Asn271Asp)
c.2013A>G
c.45A>G
c.1754A>G
c.4148A>G (n.4148A>G)
c.10531A>G (p.Asn3511Asp)
n.4460A>G
c.10660A>G (p.Asn3554Asp)
2g.73572534A>TCA347284543ALMS1c.10276A>T (p.Asn3426Tyr)
c.3362A>T
c.7557A>T
c.4723A>T (p.Asn1575Tyr)
c.7602A>T
c.10657A>T (p.Asn3553Tyr)
c.811A>T (p.Asn271Tyr)
c.2013A>T
c.45A>T
c.1754A>T
c.4148A>T (n.4148A>T)
c.10531A>T (p.Asn3511Tyr)
n.4460A>T
c.10660A>T (p.Asn3554Tyr)
2g.73572535A>CCA347284553ALMS1c.10277A>C (p.Asn3426Thr)
c.3363A>C
c.7558A>C
c.4724A>C (p.Asn1575Thr)
c.7603A>C
c.10658A>C (p.Asn3553Thr)
c.812A>C (p.Asn271Thr)
c.2014A>C
c.46A>C
c.1755A>C
c.4149A>C (n.4149A>C)
c.10532A>C (p.Asn3511Thr)
n.4461A>C
c.10661A>C (p.Asn3554Thr)
2g.73572535A>GCA347284556ALMS1c.10277A>G (p.Asn3426Ser)
c.3363A>G
c.7558A>G
c.4724A>G (p.Asn1575Ser)
c.7603A>G
c.10658A>G (p.Asn3553Ser)
c.812A>G (p.Asn271Ser)
c.2014A>G
c.46A>G
c.1755A>G
c.4149A>G (n.4149A>G)
c.10532A>G (p.Asn3511Ser)
n.4461A>G
c.10661A>G (p.Asn3554Ser)
2g.73572535A>TCA347284558ALMS1c.10277A>T (p.Asn3426Ile)
c.3363A>T
c.7558A>T
c.4724A>T (p.Asn1575Ile)
c.7603A>T
c.10658A>T (p.Asn3553Ile)
c.812A>T (p.Asn271Ile)
c.2014A>T
c.46A>T
c.1755A>T
c.4149A>T (n.4149A>T)
c.10532A>T (p.Asn3511Ile)
n.4461A>T
c.10661A>T (p.Asn3554Ile)
2g.73572536T>ACA347284562ALMS1c.10278T>A (p.Asn3426Lys)
c.3364T>A
c.7559T>A
c.4725T>A (p.Asn1575Lys)
c.7604T>A
c.10659T>A (p.Asn3553Lys)
c.813T>A (p.Asn271Lys)
c.2015T>A
c.47T>A
c.1756T>A
c.4150T>A (n.4150T>A)
c.10533T>A (p.Asn3511Lys)
n.4462T>A
c.10662T>A (p.Asn3554Lys)
2g.73572536T>CCA427024113ALMS1c.10278T>C (p.Asn3426=)
c.3364T>C
c.7559T>C
c.4725T>C (p.Asn1575=)
c.7604T>C
c.10659T>C (p.Asn3553=)
c.813T>C (p.Asn271=)
c.2015T>C
c.47T>C
c.1756T>C
c.4150T>C (n.4150T>C)
c.10533T>C (p.Asn3511=)
n.4462T>C
c.10662T>C (p.Asn3554=)
2g.73572536T>GCA347284566ALMS1c.10278T>G (p.Asn3426Lys)
c.3364T>G
c.7559T>G
c.4725T>G (p.Asn1575Lys)
c.7604T>G
c.10659T>G (p.Asn3553Lys)
c.813T>G (p.Asn271Lys)
c.2015T>G
c.47T>G
c.1756T>G
c.4150T>G (n.4150T>G)
c.10533T>G (p.Asn3511Lys)
n.4462T>G
c.10662T>G (p.Asn3554Lys)
2g.73572537T>ACA347284570ALMS1c.10279T>A (p.Leu3427Met)
c.3365T>A
c.7560T>A
c.4726T>A (p.Leu1576Met)
c.7605T>A
c.10660T>A (p.Leu3554Met)
c.814T>A (p.Leu272Met)
c.2016T>A
c.48T>A
c.1757T>A
c.4151T>A (n.4151T>A)
c.10534T>A (p.Leu3512Met)
n.4463T>A
c.10663T>A (p.Leu3555Met)
2g.73572537T>CCA427024114ALMS1c.10279T>C (p.Leu3427=)
c.3365T>C
c.7560T>C
c.4726T>C (p.Leu1576=)
c.7605T>C
c.10660T>C (p.Leu3554=)
c.814T>C (p.Leu272=)
c.2016T>C
c.48T>C
c.1757T>C
c.4151T>C (n.4151T>C)
c.10534T>C (p.Leu3512=)
n.4463T>C
c.10663T>C (p.Leu3555=)
 ClinVar
2g.73572537T>GCA347284572ALMS1c.10279T>G (p.Leu3427Val)
c.3365T>G
c.7560T>G
c.4726T>G (p.Leu1576Val)
c.7605T>G
c.10660T>G (p.Leu3554Val)
c.814T>G (p.Leu272Val)
c.2016T>G
c.48T>G
c.1757T>G
c.4151T>G (n.4151T>G)
c.10534T>G (p.Leu3512Val)
n.4463T>G
c.10663T>G (p.Leu3555Val)
2g.73572538T>ACA347284577ALMS1c.10280T>A (p.Leu3427Ter)
c.3366T>A
c.7561T>A
c.4727T>A (p.Leu1576Ter)
c.7606T>A
c.10661T>A (p.Leu3554Ter)
c.815T>A (p.Leu272Ter)
c.2017T>A
c.49T>A
c.1758T>A
c.4152T>A (n.4152T>A)
c.10535T>A (p.Leu3512Ter)
n.4464T>A
c.10664T>A (p.Leu3555Ter)
2g.73572538T>CCA347284579ALMS1c.10280T>C (p.Leu3427Ser)
c.3366T>C
c.7561T>C
c.4727T>C (p.Leu1576Ser)
c.7606T>C
c.10661T>C (p.Leu3554Ser)
c.815T>C (p.Leu272Ser)
c.2017T>C
c.49T>C
c.1758T>C
c.4152T>C (n.4152T>C)
c.10535T>C (p.Leu3512Ser)
n.4464T>C
c.10664T>C (p.Leu3555Ser)
2g.73572538T>GCA347284581ALMS1c.10280T>G (p.Leu3427Trp)
c.3366T>G
c.7561T>G
c.4727T>G (p.Leu1576Trp)
c.7606T>G
c.10661T>G (p.Leu3554Trp)
c.815T>G (p.Leu272Trp)
c.2017T>G
c.49T>G
c.1758T>G
c.4152T>G (n.4152T>G)
c.10535T>G (p.Leu3512Trp)
n.4464T>G
c.10664T>G (p.Leu3555Trp)
2g.73572539G>ACA427024121ALMS1c.10281G>A (p.Leu3427=)
c.3367G>A
c.7562G>A
c.4728G>A (p.Leu1576=)
c.7607G>A
c.10662G>A (p.Leu3554=)
c.816G>A (p.Leu272=)
c.2018G>A
c.50G>A
c.1759G>A
c.4153G>A (n.4153G>A)
c.10536G>A (p.Leu3512=)
n.4465G>A
c.10665G>A (p.Leu3555=)
 dbSNP
2g.73572539G>CCA347284587ALMS1c.10281G>C (p.Leu3427Phe)
c.3367G>C
c.7562G>C
c.4728G>C (p.Leu1576Phe)
c.7607G>C
c.10662G>C (p.Leu3554Phe)
c.816G>C (p.Leu272Phe)
c.2018G>C
c.50G>C
c.1759G>C
c.4153G>C (n.4153G>C)
c.10536G>C (p.Leu3512Phe)
n.4465G>C
c.10665G>C (p.Leu3555Phe)
2g.73572539G=CA1261021259ALMS1c.10281G= (p.Leu3427=)
c.3367G=
c.7562G=
c.4728G= (p.Leu1576=)
c.7607G=
c.10662G= (p.Leu3554=)
c.816G= (p.Leu272=)
c.2018G=
c.50G=
c.1759G=
c.4153G= (n.4153G=)
c.10536G= (p.Leu3512=)
n.4465G=
c.10665G= (p.Leu3555=)
2g.73572539G>TCA347284583ALMS1c.10281G>T (p.Leu3427Phe)
c.3367G>T
c.7562G>T
c.4728G>T (p.Leu1576Phe)
c.7607G>T
c.10662G>T (p.Leu3554Phe)
c.816G>T (p.Leu272Phe)
c.2018G>T
c.50G>T
c.1759G>T
c.4153G>T (n.4153G>T)
c.10536G>T (p.Leu3512Phe)
n.4465G>T
c.10665G>T (p.Leu3555Phe)
2g.73572541delCA501086ALMS1c.10283del (p.Gly3428GlufsTer5)
c.3369del
c.7564del
c.4730del (p.Gly1577GlufsTer5)
c.7609del
c.10664del (p.Gly3555GlufsTer5)
c.818del (p.Gly273GlufsTer5)
c.2020del
c.52del
c.1761del
c.4155del (n.4155del)
c.10538del (p.Gly3513GlufsTer5)
n.4467del
c.10667del (p.Gly3556GlufsTer5)
2g.73572540G>ACA347284589ALMS1c.10282G>A (p.Gly3428Arg)
c.3368G>A
c.7563G>A
c.4729G>A (p.Gly1577Arg)
c.7608G>A
c.10663G>A (p.Gly3555Arg)
c.817G>A (p.Gly273Arg)
c.2019G>A
c.51G>A
c.1760G>A
c.4154G>A (n.4154G>A)
c.10537G>A (p.Gly3513Arg)
n.4466G>A
c.10666G>A (p.Gly3556Arg)
2g.73572540G>CCA347284591ALMS1c.10282G>C (p.Gly3428Arg)
c.3368G>C
c.7563G>C
c.4729G>C (p.Gly1577Arg)
c.7608G>C
c.10663G>C (p.Gly3555Arg)
c.817G>C (p.Gly273Arg)
c.2019G>C
c.51G>C
c.1760G>C
c.4154G>C (n.4154G>C)
c.10537G>C (p.Gly3513Arg)
n.4466G>C
c.10666G>C (p.Gly3556Arg)
2g.73572540G>TCA347284593ALMS1c.10282G>T (p.Gly3428Ter)
c.3368G>T
c.7563G>T
c.4729G>T (p.Gly1577Ter)
c.7608G>T
c.10663G>T (p.Gly3555Ter)
c.817G>T (p.Gly273Ter)
c.2019G>T
c.51G>T
c.1760G>T
c.4154G>T (n.4154G>T)
c.10537G>T (p.Gly3513Ter)
n.4466G>T
c.10666G>T (p.Gly3556Ter)
2g.73572541G>ACA347284596ALMS1c.10283G>A (p.Gly3428Glu)
c.3369G>A
c.7564G>A
c.4730G>A (p.Gly1577Glu)
c.7609G>A
c.10664G>A (p.Gly3555Glu)
c.818G>A (p.Gly273Glu)
c.2020G>A
c.52G>A
c.1761G>A
c.4155G>A (n.4155G>A)
c.10538G>A (p.Gly3513Glu)
n.4467G>A
c.10667G>A (p.Gly3556Glu)
2g.73572541G>CCA347284598ALMS1c.10283G>C (p.Gly3428Ala)
c.3369G>C
c.7564G>C
c.4730G>C (p.Gly1577Ala)
c.7609G>C
c.10664G>C (p.Gly3555Ala)
c.818G>C (p.Gly273Ala)
c.2020G>C
c.52G>C
c.1761G>C
c.4155G>C (n.4155G>C)
c.10538G>C (p.Gly3513Ala)
n.4467G>C
c.10667G>C (p.Gly3556Ala)
2g.73572541G>TCA347284600ALMS1c.10283G>T (p.Gly3428Val)
c.3369G>T
c.7564G>T
c.4730G>T (p.Gly1577Val)
c.7609G>T
c.10664G>T (p.Gly3555Val)
c.818G>T (p.Gly273Val)
c.2020G>T
c.52G>T
c.1761G>T
c.4155G>T (n.4155G>T)
c.10538G>T (p.Gly3513Val)
n.4467G>T
c.10667G>T (p.Gly3556Val)
2g.73572542A=CA1261021260ALMS1c.10284A= (p.Gly3428=)
c.3370A=
c.7565A=
c.4731A= (p.Gly1577=)
c.7610A=
c.10665A= (p.Gly3555=)
c.819A= (p.Gly273=)
c.2021A=
c.53A=
c.1762A=
c.4156A= (n.4156A=)
c.10539A= (p.Gly3513=)
n.4468A=
c.10668A= (p.Gly3556=)
2g.73572542A>CCA427024128ALMS1c.10284A>C (p.Gly3428=)
c.3370A>C
c.7565A>C
c.4731A>C (p.Gly1577=)
c.7610A>C
c.10665A>C (p.Gly3555=)
c.819A>C (p.Gly273=)
c.2021A>C
c.53A>C
c.1762A>C
c.4156A>C (n.4156A>C)
c.10539A>C (p.Gly3513=)
n.4468A>C
c.10668A>C (p.Gly3556=)
 ClinVar dbSNP
2g.73572542A>GCA427024130ALMS1c.10284A>G (p.Gly3428=)
c.3370A>G
c.7565A>G
c.4731A>G (p.Gly1577=)
c.7610A>G
c.10665A>G (p.Gly3555=)
c.819A>G (p.Gly273=)
c.2021A>G
c.53A>G
c.1762A>G
c.4156A>G (n.4156A>G)
c.10539A>G (p.Gly3513=)
n.4468A>G
c.10668A>G (p.Gly3556=)
2g.73572542A>TCA427024131ALMS1c.10284A>T (p.Gly3428=)
c.3370A>T
c.7565A>T
c.4731A>T (p.Gly1577=)
c.7610A>T
c.10665A>T (p.Gly3555=)
c.819A>T (p.Gly273=)
c.2021A>T
c.53A>T
c.1762A>T
c.4156A>T (n.4156A>T)
c.10539A>T (p.Gly3513=)
n.4468A>T
c.10668A>T (p.Gly3556=)
2g.73572543_73572544delCA2577005217ALMS1c.10285_10286del (p.Asn3429GlnfsTer8)
c.3371_3372del
c.7566_7567del
c.4732_4733del (p.Asn1578GlnfsTer8)
c.7611_7612del
c.10666_10667del (p.Asn3556GlnfsTer8)
c.820_821del (p.Asn274GlnfsTer8)
c.2022_2023del
c.54_55del
c.1763_1764del
c.4157_4158del (n.4157_4158del)
c.10540_10541del (p.Asn3514GlnfsTer8)
n.4469_4470del
c.10669_10670del (p.Asn3557GlnfsTer8)
2g.73572543A>CCA347284607ALMS1c.10285A>C (p.Asn3429His)
c.3371A>C
c.7566A>C
c.4732A>C (p.Asn1578His)
c.7611A>C
c.10666A>C (p.Asn3556His)
c.820A>C (p.Asn274His)
c.2022A>C
c.54A>C
c.1763A>C
c.4157A>C (n.4157A>C)
c.10540A>C (p.Asn3514His)
n.4469A>C
c.10669A>C (p.Asn3557His)
2g.73572543A>GCA347284604ALMS1c.10285A>G (p.Asn3429Asp)
c.3371A>G
c.7566A>G
c.4732A>G (p.Asn1578Asp)
c.7611A>G
c.10666A>G (p.Asn3556Asp)
c.820A>G (p.Asn274Asp)
c.2022A>G
c.54A>G
c.1763A>G
c.4157A>G (n.4157A>G)
c.10540A>G (p.Asn3514Asp)
n.4469A>G
c.10669A>G (p.Asn3557Asp)
 gnomAD v4
2g.73572543A>TCA347284605ALMS1c.10285A>T (p.Asn3429Tyr)
c.3371A>T
c.7566A>T
c.4732A>T (p.Asn1578Tyr)
c.7611A>T
c.10666A>T (p.Asn3556Tyr)
c.820A>T (p.Asn274Tyr)
c.2022A>T
c.54A>T
c.1763A>T
c.4157A>T (n.4157A>T)
c.10540A>T (p.Asn3514Tyr)
n.4469A>T
c.10669A>T (p.Asn3557Tyr)
2g.73572544A>CCA347284610ALMS1c.10286A>C (p.Asn3429Thr)
c.3372A>C
c.7567A>C
c.4733A>C (p.Asn1578Thr)
c.7612A>C
c.10667A>C (p.Asn3556Thr)
c.821A>C (p.Asn274Thr)
c.2023A>C
c.55A>C
c.1764A>C
c.4158A>C (n.4158A>C)
c.10541A>C (p.Asn3514Thr)
n.4470A>C
c.10670A>C (p.Asn3557Thr)
2g.73572544A>GCA347284611ALMS1c.10286A>G (p.Asn3429Ser)
c.3372A>G
c.7567A>G
c.4733A>G (p.Asn1578Ser)
c.7612A>G
c.10667A>G (p.Asn3556Ser)
c.821A>G (p.Asn274Ser)
c.2023A>G
c.55A>G
c.1764A>G
c.4158A>G (n.4158A>G)
c.10541A>G (p.Asn3514Ser)
n.4470A>G
c.10670A>G (p.Asn3557Ser)
2g.73572544A>TCA347284614ALMS1c.10286A>T (p.Asn3429Ile)
c.3372A>T
c.7567A>T
c.4733A>T (p.Asn1578Ile)
c.7612A>T
c.10667A>T (p.Asn3556Ile)
c.821A>T (p.Asn274Ile)
c.2023A>T
c.55A>T
c.1764A>T
c.4158A>T (n.4158A>T)
c.10541A>T (p.Asn3514Ile)
n.4470A>T
c.10670A>T (p.Asn3557Ile)
2g.73572545delCA2573135804ALMS1c.10287del (p.Asn3429LysfsTer4)
c.3373del
c.7568del
c.4734del (p.Asn1578LysfsTer4)
c.7613del
c.10668del (p.Asn3556LysfsTer4)
c.822del (p.Asn274LysfsTer4)
c.2024del
c.56del
c.1765del
c.4159del (n.4159del)
c.10542del (p.Asn3514LysfsTer4)
n.4471del
c.10671del (p.Asn3557LysfsTer4)
 ClinVar dbSNP
2g.73572545C>ACA347284617ALMS1c.10287C>A (p.Asn3429Lys)
c.3373C>A
c.7568C>A
c.4734C>A (p.Asn1578Lys)
c.7613C>A
c.10668C>A (p.Asn3556Lys)
c.822C>A (p.Asn274Lys)
c.2024C>A
c.56C>A
c.1765C>A
c.4159C>A (n.4159C>A)
c.10542C>A (p.Asn3514Lys)
n.4471C>A
c.10671C>A (p.Asn3557Lys)
2g.73572545C>GCA347284620ALMS1c.10287C>G (p.Asn3429Lys)
c.3373C>G
c.7568C>G
c.4734C>G (p.Asn1578Lys)
c.7613C>G
c.10668C>G (p.Asn3556Lys)
c.822C>G (p.Asn274Lys)
c.2024C>G
c.56C>G
c.1765C>G
c.4159C>G (n.4159C>G)
c.10542C>G (p.Asn3514Lys)
n.4471C>G
c.10671C>G (p.Asn3557Lys)
 ClinVar gnomAD v4
2g.73572545C>TCA427024135ALMS1c.10287C>T (p.Asn3429=)
c.3373C>T
c.7568C>T
c.4734C>T (p.Asn1578=)
c.7613C>T
c.10668C>T (p.Asn3556=)
c.822C>T (p.Asn274=)
c.2024C>T
c.56C>T
c.1765C>T
c.4159C>T (n.4159C>T)
c.10542C>T (p.Asn3514=)
n.4471C>T
c.10671C>T (p.Asn3557=)
2g.73572545_73572548delinsCAAACA1261021261ALMS1c.10287_10290delinsCAAA (p.Asn3429=)
c.3373_3376delinsCAAA
c.7568_7571delinsCAAA
c.4734_4737delinsCAAA (p.Asn1578=)
c.7613_7616delinsCAAA
c.10668_10671delinsCAAA (p.Asn3556=)
c.822_825delinsCAAA (p.Asn274=)
c.2024_2027delinsCAAA
c.56_59delinsCAAA
c.1765_1768delinsCAAA
c.4159_4162delinsCAAA (n.4159_4162delinsCAAA)
c.10542_10545delinsCAAA (p.Asn3514=)
n.4471_4474delinsCAAA
c.10671_10674delinsCAAA (p.Asn3557=)
2g.73572545_73572549delinsCAAAGCA1261021262ALMS1c.10287_10291delinsCAAAG (p.Asn3429=)
c.3373_3377delinsCAAAG
c.7568_7572delinsCAAAG
c.4734_4738delinsCAAAG (p.Asn1578=)
c.7613_7617delinsCAAAG
c.10668_10672delinsCAAAG (p.Asn3556=)
c.822_826delinsCAAAG (p.Asn274=)
c.2024_2028delinsCAAAG
c.56_60delinsCAAAG
c.1765_1769delinsCAAAG
c.4159_4163delinsCAAAG (n.4159_4163delinsCAAAG)
c.10542_10546delinsCAAAG (p.Asn3514=)
n.4471_4475delinsCAAAG
c.10671_10675delinsCAAAG (p.Asn3557=)
2g.73572546A>CCA347284625ALMS1c.10288A>C (p.Lys3430Gln)
c.3374A>C
c.7569A>C
c.4735A>C (p.Lys1579Gln)
c.7614A>C
c.10669A>C (p.Lys3557Gln)
c.823A>C (p.Lys275Gln)
c.2025A>C
c.57A>C
c.1766A>C
c.4160A>C (n.4160A>C)
c.10543A>C (p.Lys3515Gln)
n.4472A>C
c.10672A>C (p.Lys3558Gln)
2g.73572546A>GCA347284636ALMS1c.10288A>G (p.Lys3430Glu)
c.3374A>G
c.7569A>G
c.4735A>G (p.Lys1579Glu)
c.7614A>G
c.10669A>G (p.Lys3557Glu)
c.823A>G (p.Lys275Glu)
c.2025A>G
c.57A>G
c.1766A>G
c.4160A>G (n.4160A>G)
c.10543A>G (p.Lys3515Glu)
n.4472A>G
c.10672A>G (p.Lys3558Glu)
2g.73572546A>TCA347284632ALMS1c.10288A>T (p.Lys3430Ter)
c.3374A>T
c.7569A>T
c.4735A>T (p.Lys1579Ter)
c.7614A>T
c.10669A>T (p.Lys3557Ter)
c.823A>T (p.Lys275Ter)
c.2025A>T
c.57A>T
c.1766A>T
c.4160A>T (n.4160A>T)
c.10543A>T (p.Lys3515Ter)
n.4472A>T
c.10672A>T (p.Lys3558Ter)
2g.73572546_73572548delCA1715041ALMS1c.10288_10290del (p.Lys3430del)
c.3374_3376del
c.7569_7571del
c.4735_4737del (p.Lys1579del)
c.7614_7616del
c.10669_10671del (p.Lys3557del)
c.823_825del (p.Lys275del)
c.2025_2027del
c.57_59del
c.1766_1768del
c.4160_4162del (n.4160_4162del)
c.10543_10545del (p.Lys3515del)
n.4472_4474del
c.10672_10674del (p.Lys3558del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572548_73572551delCA892825931ALMS1c.10290_10293del (p.Glu3431Ter)
c.3376_3379del
c.7571_7574del
c.4737_4740del (p.Glu1580Ter)
c.7616_7619del
c.10671_10674del (p.Glu3558Ter)
c.825_828del (p.Glu276Ter)
c.2027_2030del
c.59_62del
c.1768_1771del
c.4162_4165del (n.4162_4165del)
c.10545_10548del (p.Glu3516Ter)
n.4474_4477del
c.10674_10677del (p.Glu3559Ter)
 ClinVar dbSNP gnomAD v4
2g.73572547A>CCA347284643ALMS1c.10289A>C (p.Lys3430Thr)
c.3375A>C
c.7570A>C
c.4736A>C (p.Lys1579Thr)
c.7615A>C
c.10670A>C (p.Lys3557Thr)
c.824A>C (p.Lys275Thr)
c.2026A>C
c.58A>C
c.1767A>C
c.4161A>C (n.4161A>C)
c.10544A>C (p.Lys3515Thr)
n.4473A>C
c.10673A>C (p.Lys3558Thr)
2g.73572547A>GCA347284647ALMS1c.10289A>G (p.Lys3430Arg)
c.3375A>G
c.7570A>G
c.4736A>G (p.Lys1579Arg)
c.7615A>G
c.10670A>G (p.Lys3557Arg)
c.824A>G (p.Lys275Arg)
c.2026A>G
c.58A>G
c.1767A>G
c.4161A>G (n.4161A>G)
c.10544A>G (p.Lys3515Arg)
n.4473A>G
c.10673A>G (p.Lys3558Arg)
 ClinVar
2g.73572547A>TCA347284651ALMS1c.10289A>T (p.Lys3430Ile)
c.3375A>T
c.7570A>T
c.4736A>T (p.Lys1579Ile)
c.7615A>T
c.10670A>T (p.Lys3557Ile)
c.824A>T (p.Lys275Ile)
c.2026A>T
c.58A>T
c.1767A>T
c.4161A>T (n.4161A>T)
c.10544A>T (p.Lys3515Ile)
n.4473A>T
c.10673A>T (p.Lys3558Ile)
2g.73572548A=CA1261021265ALMS1c.10290A= (p.Lys3430=)
c.3376A=
c.7571A=
c.4737A= (p.Lys1579=)
c.7616A=
c.10671A= (p.Lys3557=)
c.825A= (p.Lys275=)
c.2027A=
c.59A=
c.1768A=
c.4162A= (n.4162A=)
c.10545A= (p.Lys3515=)
n.4474A=
c.10674A= (p.Lys3558=)
2g.73572548A>CCA347284655ALMS1c.10290A>C (p.Lys3430Asn)
c.3376A>C
c.7571A>C
c.4737A>C (p.Lys1579Asn)
c.7616A>C
c.10671A>C (p.Lys3557Asn)
c.825A>C (p.Lys275Asn)
c.2027A>C
c.59A>C
c.1768A>C
c.4162A>C (n.4162A>C)
c.10545A>C (p.Lys3515Asn)
n.4474A>C
c.10674A>C (p.Lys3558Asn)
 ClinVar dbSNP gnomAD v4
2g.73572548A>GCA427024142ALMS1c.10290A>G (p.Lys3430=)
c.3376A>G
c.7571A>G
c.4737A>G (p.Lys1579=)
c.7616A>G
c.10671A>G (p.Lys3557=)
c.825A>G (p.Lys275=)
c.2027A>G
c.59A>G
c.1768A>G
c.4162A>G (n.4162A>G)
c.10545A>G (p.Lys3515=)
n.4474A>G
c.10674A>G (p.Lys3558=)
2g.73572548A>TCA347284659ALMS1c.10290A>T (p.Lys3430Asn)
c.3376A>T
c.7571A>T
c.4737A>T (p.Lys1579Asn)
c.7616A>T
c.10671A>T (p.Lys3557Asn)
c.825A>T (p.Lys275Asn)
c.2027A>T
c.59A>T
c.1768A>T
c.4162A>T (n.4162A>T)
c.10545A>T (p.Lys3515Asn)
n.4474A>T
c.10674A>T (p.Lys3558Asn)
2g.73572549G>ACA347284662ALMS1c.10291G>A (p.Glu3431Lys)
c.3377G>A
c.7572G>A
c.4738G>A (p.Glu1580Lys)
c.7617G>A
c.10672G>A (p.Glu3558Lys)
c.826G>A (p.Glu276Lys)
c.2028G>A
c.60G>A
c.1769G>A
c.4163G>A (n.4163G>A)
c.10546G>A (p.Glu3516Lys)
n.4475G>A
c.10675G>A (p.Glu3559Lys)
 gnomAD v4
2g.73572549G>CCA347284666ALMS1c.10291G>C (p.Glu3431Gln)
c.3377G>C
c.7572G>C
c.4738G>C (p.Glu1580Gln)
c.7617G>C
c.10672G>C (p.Glu3558Gln)
c.826G>C (p.Glu276Gln)
c.2028G>C
c.60G>C
c.1769G>C
c.4163G>C (n.4163G>C)
c.10546G>C (p.Glu3516Gln)
n.4475G>C
c.10675G>C (p.Glu3559Gln)
2g.73572549G>TCA347284669ALMS1c.10291G>T (p.Glu3431Ter)
c.3377G>T
c.7572G>T
c.4738G>T (p.Glu1580Ter)
c.7617G>T
c.10672G>T (p.Glu3558Ter)
c.826G>T (p.Glu276Ter)
c.2028G>T
c.60G>T
c.1769G>T
c.4163G>T (n.4163G>T)
c.10546G>T (p.Glu3516Ter)
n.4475G>T
c.10675G>T (p.Glu3559Ter)
2g.73572550A>CCA347284675ALMS1c.10292A>C (p.Glu3431Ala)
c.3378A>C
c.7573A>C
c.4739A>C (p.Glu1580Ala)
c.7618A>C
c.10673A>C (p.Glu3558Ala)
c.827A>C (p.Glu276Ala)
c.2029A>C
c.61A>C
c.1770A>C
c.4164A>C (n.4164A>C)
c.10547A>C (p.Glu3516Ala)
n.4476A>C
c.10676A>C (p.Glu3559Ala)
2g.73572550A>GCA347284678ALMS1c.10292A>G (p.Glu3431Gly)
c.3378A>G
c.7573A>G
c.4739A>G (p.Glu1580Gly)
c.7618A>G
c.10673A>G (p.Glu3558Gly)
c.827A>G (p.Glu276Gly)
c.2029A>G
c.61A>G
c.1770A>G
c.4164A>G (n.4164A>G)
c.10547A>G (p.Glu3516Gly)
n.4476A>G
c.10676A>G (p.Glu3559Gly)
2g.73572550A>TCA347284682ALMS1c.10292A>T (p.Glu3431Val)
c.3378A>T
c.7573A>T
c.4739A>T (p.Glu1580Val)
c.7618A>T
c.10673A>T (p.Glu3558Val)
c.827A>T (p.Glu276Val)
c.2029A>T
c.61A>T
c.1770A>T
c.4164A>T (n.4164A>T)
c.10547A>T (p.Glu3516Val)
n.4476A>T
c.10676A>T (p.Glu3559Val)
2g.73572551A>CCA347284685ALMS1c.10293A>C (p.Glu3431Asp)
c.3379A>C
c.7574A>C
c.4740A>C (p.Glu1580Asp)
c.7619A>C
c.10674A>C (p.Glu3558Asp)
c.828A>C (p.Glu276Asp)
c.2030A>C
c.62A>C
c.1771A>C
c.4165A>C (n.4165A>C)
c.10548A>C (p.Glu3516Asp)
n.4477A>C
c.10677A>C (p.Glu3559Asp)
2g.73572551A>GCA427024149ALMS1c.10293A>G (p.Glu3431=)
c.3379A>G
c.7574A>G
c.4740A>G (p.Glu1580=)
c.7619A>G
c.10674A>G (p.Glu3558=)
c.828A>G (p.Glu276=)
c.2030A>G
c.62A>G
c.1771A>G
c.4165A>G (n.4165A>G)
c.10548A>G (p.Glu3516=)
n.4477A>G
c.10677A>G (p.Glu3559=)
2g.73572551A>TCA347284690ALMS1c.10293A>T (p.Glu3431Asp)
c.3379A>T
c.7574A>T
c.4740A>T (p.Glu1580Asp)
c.7619A>T
c.10674A>T (p.Glu3558Asp)
c.828A>T (p.Glu276Asp)
c.2030A>T
c.62A>T
c.1771A>T
c.4165A>T (n.4165A>T)
c.10548A>T (p.Glu3516Asp)
n.4477A>T
c.10677A>T (p.Glu3559Asp)
2g.73572552G>ACA347284695ALMS1c.10294G>A (p.Val3432Met)
c.3380G>A
c.7575G>A
c.4741G>A (p.Val1581Met)
c.7620G>A
c.10675G>A (p.Val3559Met)
c.829G>A (p.Val277Met)
c.2031G>A
c.63G>A
c.1772G>A
c.4166G>A (n.4166G>A)
c.10549G>A (p.Val3517Met)
n.4478G>A
c.10678G>A (p.Val3560Met)
 gnomAD v4
2g.73572552G>CCA347284696ALMS1c.10294G>C (p.Val3432Leu)
c.3380G>C
c.7575G>C
c.4741G>C (p.Val1581Leu)
c.7620G>C
c.10675G>C (p.Val3559Leu)
c.829G>C (p.Val277Leu)
c.2031G>C
c.63G>C
c.1772G>C
c.4166G>C (n.4166G>C)
c.10549G>C (p.Val3517Leu)
n.4478G>C
c.10678G>C (p.Val3560Leu)
2g.73572552G>TCA347284698ALMS1c.10294G>T (p.Val3432Leu)
c.3380G>T
c.7575G>T
c.4741G>T (p.Val1581Leu)
c.7620G>T
c.10675G>T (p.Val3559Leu)
c.829G>T (p.Val277Leu)
c.2031G>T
c.63G>T
c.1772G>T
c.4166G>T (n.4166G>T)
c.10549G>T (p.Val3517Leu)
n.4478G>T
c.10678G>T (p.Val3560Leu)
2g.73572552_73572553delinsGTCA1261021266ALMS1c.10294_10295delinsGT (p.Val3432=)
c.3380_3381delinsGT
c.7575_7576delinsGT
c.4741_4742delinsGT (p.Val1581=)
c.7620_7621delinsGT
c.10675_10676delinsGT (p.Val3559=)
c.829_830delinsGT (p.Val277=)
c.2031_2032delinsGT
c.63_64delinsGT
c.1772_1773delinsGT
c.4166_4167delinsGT (n.4166_4167delinsGT)
c.10549_10550delinsGT (p.Val3517=)
n.4478_4479delinsGT
c.10678_10679delinsGT (p.Val3560=)
2g.73572553delCA915944043ALMS1c.10295del (p.Val3432GlyfsTer?)
c.3381del
c.7576del
c.4742del (p.Val1581GlyfsTer?)
c.7621del
c.10676del (p.Val3559GlyfsTer?)
c.830del (p.Val277GlyfsTer?)
c.2032del
c.64del
c.1773del
c.4167del (n.4167del)
c.10550del (p.Val3517GlyfsTer?)
n.4479del
c.10679del (p.Val3560GlyfsTer?)
 ClinVar dbSNP
2g.73572553T>ACA347284712ALMS1c.10295T>A (p.Val3432Glu)
c.3381T>A
c.7576T>A
c.4742T>A (p.Val1581Glu)
c.7621T>A
c.10676T>A (p.Val3559Glu)
c.830T>A (p.Val277Glu)
c.2032T>A
c.64T>A
c.1773T>A
c.4167T>A (n.4167T>A)
c.10550T>A (p.Val3517Glu)
n.4479T>A
c.10679T>A (p.Val3560Glu)
2g.73572553T>CCA1715042ALMS1c.10295T>C (p.Val3432Ala)
c.3381T>C
c.7576T>C
c.4742T>C (p.Val1581Ala)
c.7621T>C
c.10676T>C (p.Val3559Ala)
c.830T>C (p.Val277Ala)
c.2032T>C
c.64T>C
c.1773T>C
c.4167T>C (n.4167T>C)
c.10550T>C (p.Val3517Ala)
n.4479T>C
c.10679T>C (p.Val3560Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572553T>GCA347284715ALMS1c.10295T>G (p.Val3432Gly)
c.3381T>G
c.7576T>G
c.4742T>G (p.Val1581Gly)
c.7621T>G
c.10676T>G (p.Val3559Gly)
c.830T>G (p.Val277Gly)
c.2032T>G
c.64T>G
c.1773T>G
c.4167T>G (n.4167T>G)
c.10550T>G (p.Val3517Gly)
n.4479T>G
c.10679T>G (p.Val3560Gly)
2g.73572553T=CA1261021267ALMS1c.10295T= (p.Val3432=)
c.3381T=
c.7576T=
c.4742T= (p.Val1581=)
c.7621T=
c.10676T= (p.Val3559=)
c.830T= (p.Val277=)
c.2032T=
c.64T=
c.1773T=
c.4167T= (n.4167T=)
c.10550T= (p.Val3517=)
n.4479T=
c.10679T= (p.Val3560=)
2g.73572554G>ACA1715043ALMS1c.10296G>A (p.Val3432=)
c.3382G>A
c.7577G>A
c.4743G>A (p.Val1581=)
c.7622G>A
c.10677G>A (p.Val3559=)
c.831G>A (p.Val277=)
c.2033G>A
c.65G>A
c.1774G>A
c.4168G>A (n.4168G>A)
c.10551G>A (p.Val3517=)
n.4480G>A
c.10680G>A (p.Val3560=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572554G>CCA427024153ALMS1c.10296G>C (p.Val3432=)
c.3382G>C
c.7577G>C
c.4743G>C (p.Val1581=)
c.7622G>C
c.10677G>C (p.Val3559=)
c.831G>C (p.Val277=)
c.2033G>C
c.65G>C
c.1774G>C
c.4168G>C (n.4168G>C)
c.10551G>C (p.Val3517=)
n.4480G>C
c.10680G>C (p.Val3560=)
2g.73572554G=CA1261021269ALMS1c.10296G= (p.Val3432=)
c.3382G=
c.7577G=
c.4743G= (p.Val1581=)
c.7622G=
c.10677G= (p.Val3559=)
c.831G= (p.Val277=)
c.2033G=
c.65G=
c.1774G=
c.4168G= (n.4168G=)
c.10551G= (p.Val3517=)
n.4480G=
c.10680G= (p.Val3560=)
2g.73572554G>TCA427024154ALMS1c.10296G>T (p.Val3432=)
c.3382G>T
c.7577G>T
c.4743G>T (p.Val1581=)
c.7622G>T
c.10677G>T (p.Val3559=)
c.831G>T (p.Val277=)
c.2033G>T
c.65G>T
c.1774G>T
c.4168G>T (n.4168G>T)
c.10551G>T (p.Val3517=)
n.4480G>T
c.10680G>T (p.Val3560=)
2g.73572555A>CCA347284723ALMS1c.10297A>C (p.Met3433Leu)
c.3383A>C
c.7578A>C
c.4744A>C (p.Met1582Leu)
c.7623A>C
c.10678A>C (p.Met3560Leu)
c.832A>C (p.Met278Leu)
c.2034A>C
c.66A>C
c.1775A>C
c.4169A>C (n.4169A>C)
c.10552A>C (p.Met3518Leu)
n.4481A>C
c.10681A>C (p.Met3561Leu)
2g.73572555A>GCA347284728ALMS1c.10297A>G (p.Met3433Val)
c.3383A>G
c.7578A>G
c.4744A>G (p.Met1582Val)
c.7623A>G
c.10678A>G (p.Met3560Val)
c.832A>G (p.Met278Val)
c.2034A>G
c.66A>G
c.1775A>G
c.4169A>G (n.4169A>G)
c.10552A>G (p.Met3518Val)
n.4481A>G
c.10681A>G (p.Met3561Val)
2g.73572555A>TCA347284731ALMS1c.10297A>T (p.Met3433Leu)
c.3383A>T
c.7578A>T
c.4744A>T (p.Met1582Leu)
c.7623A>T
c.10678A>T (p.Met3560Leu)
c.832A>T (p.Met278Leu)
c.2034A>T
c.66A>T
c.1775A>T
c.4169A>T (n.4169A>T)
c.10552A>T (p.Met3518Leu)
n.4481A>T
c.10681A>T (p.Met3561Leu)
2g.73572556T>ACA347284736ALMS1c.10298T>A (p.Met3433Lys)
c.3384T>A
c.7579T>A
c.4745T>A (p.Met1582Lys)
c.7624T>A
c.10679T>A (p.Met3560Lys)
c.833T>A (p.Met278Lys)
c.2035T>A
c.67T>A
c.1776T>A
c.4170T>A (n.4170T>A)
c.10553T>A (p.Met3518Lys)
n.4482T>A
c.10682T>A (p.Met3561Lys)
2g.73572556T>CCA1715044ALMS1c.10298T>C (p.Met3433Thr)
c.3384T>C
c.7579T>C
c.4745T>C (p.Met1582Thr)
c.7624T>C
c.10679T>C (p.Met3560Thr)
c.833T>C (p.Met278Thr)
c.2035T>C
c.67T>C
c.1776T>C
c.4170T>C (n.4170T>C)
c.10553T>C (p.Met3518Thr)
n.4482T>C
c.10682T>C (p.Met3561Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572556T>GCA347284738ALMS1c.10298T>G (p.Met3433Arg)
c.3384T>G
c.7579T>G
c.4745T>G (p.Met1582Arg)
c.7624T>G
c.10679T>G (p.Met3560Arg)
c.833T>G (p.Met278Arg)
c.2035T>G
c.67T>G
c.1776T>G
c.4170T>G (n.4170T>G)
c.10553T>G (p.Met3518Arg)
n.4482T>G
c.10682T>G (p.Met3561Arg)
 ClinVar dbSNP
2g.73572556T=CA1261021274ALMS1c.10298T= (p.Met3433=)
c.3384T=
c.7579T=
c.4745T= (p.Met1582=)
c.7624T=
c.10679T= (p.Met3560=)
c.833T= (p.Met278=)
c.2035T=
c.67T=
c.1776T=
c.4170T= (n.4170T=)
c.10553T= (p.Met3518=)
n.4482T=
c.10682T= (p.Met3561=)
2g.73572557G>ACA347284750ALMS1c.10299G>A (p.Met3433Ile)
c.3385G>A
c.7580G>A
c.4746G>A (p.Met1582Ile)
c.7625G>A
c.10680G>A (p.Met3560Ile)
c.834G>A (p.Met278Ile)
c.2036G>A
c.68G>A
c.1777G>A
c.4171G>A (n.4171G>A)
c.10554G>A (p.Met3518Ile)
n.4483G>A
c.10683G>A (p.Met3561Ile)
 gnomAD v4
2g.73572557G>CCA347284747ALMS1c.10299G>C (p.Met3433Ile)
c.3385G>C
c.7580G>C
c.4746G>C (p.Met1582Ile)
c.7625G>C
c.10680G>C (p.Met3560Ile)
c.834G>C (p.Met278Ile)
c.2036G>C
c.68G>C
c.1777G>C
c.4171G>C (n.4171G>C)
c.10554G>C (p.Met3518Ile)
n.4483G>C
c.10683G>C (p.Met3561Ile)
2g.73572557G=CA1261021278ALMS1c.10299G= (p.Met3433=)
c.3385G=
c.7580G=
c.4746G= (p.Met1582=)
c.7625G=
c.10680G= (p.Met3560=)
c.834G= (p.Met278=)
c.2036G=
c.68G=
c.1777G=
c.4171G= (n.4171G=)
c.10554G= (p.Met3518=)
n.4483G=
c.10683G= (p.Met3561=)
2g.73572557G>TCA347284744ALMS1c.10299G>T (p.Met3433Ile)
c.3385G>T
c.7580G>T
c.4746G>T (p.Met1582Ile)
c.7625G>T
c.10680G>T (p.Met3560Ile)
c.834G>T (p.Met278Ile)
c.2036G>T
c.68G>T
c.1777G>T
c.4171G>T (n.4171G>T)
c.10554G>T (p.Met3518Ile)
n.4483G>T
c.10683G>T (p.Met3561Ile)
2g.73572558G>ACA347284756ALMS1c.10300G>A (p.Asp3434Asn)
c.3386G>A
c.7581G>A
c.4747G>A (p.Asp1583Asn)
c.7626G>A
c.10681G>A (p.Asp3561Asn)
c.835G>A (p.Asp279Asn)
c.2037G>A
c.69G>A
c.1778G>A
c.4172G>A (n.4172G>A)
c.10555G>A (p.Asp3519Asn)
n.4484G>A
c.10684G>A (p.Asp3562Asn)
 gnomAD v4
2g.73572558G>CCA347284760ALMS1c.10300G>C (p.Asp3434His)
c.3386G>C
c.7581G>C
c.4747G>C (p.Asp1583His)
c.7626G>C
c.10681G>C (p.Asp3561His)
c.835G>C (p.Asp279His)
c.2037G>C
c.69G>C
c.1778G>C
c.4172G>C (n.4172G>C)
c.10555G>C (p.Asp3519His)
n.4484G>C
c.10684G>C (p.Asp3562His)
2g.73572558G>TCA347284763ALMS1c.10300G>T (p.Asp3434Tyr)
c.3386G>T
c.7581G>T
c.4747G>T (p.Asp1583Tyr)
c.7626G>T
c.10681G>T (p.Asp3561Tyr)
c.835G>T (p.Asp279Tyr)
c.2037G>T
c.69G>T
c.1778G>T
c.4172G>T (n.4172G>T)
c.10555G>T (p.Asp3519Tyr)
n.4484G>T
c.10684G>T (p.Asp3562Tyr)
2g.73572558_73572560dupCA1261021282ALMS1c.10300_10302dup (p.Asp3434_Thr3435insAsp)
c.3386_3388dup
c.7581_7583dup
c.4747_4749dup (p.Asp1583_Thr1584insAsp)
c.7626_7628dup
c.10681_10683dup (p.Asp3561_Thr3562insAsp)
c.835_837dup (p.Asp279_Thr280insAsp)
c.2037_2039dup
c.69_71dup
c.1778_1780dup
c.4172_4174dup (n.4172_4174dup)
c.10555_10557dup (p.Asp3519_Thr3520insAsp)
n.4484_4486dup
c.10684_10686dup (p.Asp3562_Thr3563insAsp)
 dbSNP
2g.73572559A>CCA347284767ALMS1c.10301A>C (p.Asp3434Ala)
c.3387A>C
c.7582A>C
c.4748A>C (p.Asp1583Ala)
c.7627A>C
c.10682A>C (p.Asp3561Ala)
c.836A>C (p.Asp279Ala)
c.2038A>C
c.70A>C
c.1779A>C
c.4173A>C (n.4173A>C)
c.10556A>C (p.Asp3519Ala)
n.4485A>C
c.10685A>C (p.Asp3562Ala)
2g.73572559A>GCA347284770ALMS1c.10301A>G (p.Asp3434Gly)
c.3387A>G
c.7582A>G
c.4748A>G (p.Asp1583Gly)
c.7627A>G
c.10682A>G (p.Asp3561Gly)
c.836A>G (p.Asp279Gly)
c.2038A>G
c.70A>G
c.1779A>G
c.4173A>G (n.4173A>G)
c.10556A>G (p.Asp3519Gly)
n.4485A>G
c.10685A>G (p.Asp3562Gly)
 gnomAD v4
2g.73572559A>TCA347284773ALMS1c.10301A>T (p.Asp3434Val)
c.3387A>T
c.7582A>T
c.4748A>T (p.Asp1583Val)
c.7627A>T
c.10682A>T (p.Asp3561Val)
c.836A>T (p.Asp279Val)
c.2038A>T
c.70A>T
c.1779A>T
c.4173A>T (n.4173A>T)
c.10556A>T (p.Asp3519Val)
n.4485A>T
c.10685A>T (p.Asp3562Val)
2g.73572560T>ACA347284777ALMS1c.10302T>A (p.Asp3434Glu)
c.3388T>A
c.7583T>A
c.4749T>A (p.Asp1583Glu)
c.7628T>A
c.10683T>A (p.Asp3561Glu)
c.837T>A (p.Asp279Glu)
c.2039T>A
c.71T>A
c.1780T>A
c.4174T>A (n.4174T>A)
c.10557T>A (p.Asp3519Glu)
n.4486T>A
c.10686T>A (p.Asp3562Glu)
 dbSNP
2g.73572560T>CCA427024159ALMS1c.10302T>C (p.Asp3434=)
c.3388T>C
c.7583T>C
c.4749T>C (p.Asp1583=)
c.7628T>C
c.10683T>C (p.Asp3561=)
c.837T>C (p.Asp279=)
c.2039T>C
c.71T>C
c.1780T>C
c.4174T>C (n.4174T>C)
c.10557T>C (p.Asp3519=)
n.4486T>C
c.10686T>C (p.Asp3562=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572560T>GCA347284781ALMS1c.10302T>G (p.Asp3434Glu)
c.3388T>G
c.7583T>G
c.4749T>G (p.Asp1583Glu)
c.7628T>G
c.10683T>G (p.Asp3561Glu)
c.837T>G (p.Asp279Glu)
c.2039T>G
c.71T>G
c.1780T>G
c.4174T>G (n.4174T>G)
c.10557T>G (p.Asp3519Glu)
n.4486T>G
c.10686T>G (p.Asp3562Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572560T=CA1261021291ALMS1c.10302T= (p.Asp3434=)
c.3388T=
c.7583T=
c.4749T= (p.Asp1583=)
c.7628T=
c.10683T= (p.Asp3561=)
c.837T= (p.Asp279=)
c.2039T=
c.71T=
c.1780T=
c.4174T= (n.4174T=)
c.10557T= (p.Asp3519=)
n.4486T=
c.10686T= (p.Asp3562=)
2g.73572561A=CA1261021295ALMS1c.10303A= (p.Thr3435=)
c.3389A=
c.7584A=
c.4750A= (p.Thr1584=)
c.7629A=
c.10684A= (p.Thr3562=)
c.838A= (p.Thr280=)
c.2040A=
c.72A=
c.1781A=
c.4175A= (n.4175A=)
c.10558A= (p.Thr3520=)
n.4487A=
c.10687A= (p.Thr3563=)
2g.73572561A>CCA347284785ALMS1c.10303A>C (p.Thr3435Pro)
c.3389A>C
c.7584A>C
c.4750A>C (p.Thr1584Pro)
c.7629A>C
c.10684A>C (p.Thr3562Pro)
c.838A>C (p.Thr280Pro)
c.2040A>C
c.72A>C
c.1781A>C
c.4175A>C (n.4175A>C)
c.10558A>C (p.Thr3520Pro)
n.4487A>C
c.10687A>C (p.Thr3563Pro)
2g.73572561A>GCA347284790ALMS1c.10303A>G (p.Thr3435Ala)
c.3389A>G
c.7584A>G
c.4750A>G (p.Thr1584Ala)
c.7629A>G
c.10684A>G (p.Thr3562Ala)
c.838A>G (p.Thr280Ala)
c.2040A>G
c.72A>G
c.1781A>G
c.4175A>G (n.4175A>G)
c.10558A>G (p.Thr3520Ala)
n.4487A>G
c.10687A>G (p.Thr3563Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.73572561A>TCA347284798ALMS1c.10303A>T (p.Thr3435Ser)
c.3389A>T
c.7584A>T
c.4750A>T (p.Thr1584Ser)
c.7629A>T
c.10684A>T (p.Thr3562Ser)
c.838A>T (p.Thr280Ser)
c.2040A>T
c.72A>T
c.1781A>T
c.4175A>T (n.4175A>T)
c.10558A>T (p.Thr3520Ser)
n.4487A>T
c.10687A>T (p.Thr3563Ser)
2g.73572562C>ACA347284802ALMS1c.10304C>A (p.Thr3435Asn)
c.3390C>A
c.7585C>A
c.4751C>A (p.Thr1584Asn)
c.7630C>A
c.10685C>A (p.Thr3562Asn)
c.839C>A (p.Thr280Asn)
c.2041C>A
c.73C>A
c.1782C>A
c.4176C>A (n.4176C>A)
c.10559C>A (p.Thr3520Asn)
n.4488C>A
c.10688C>A (p.Thr3563Asn)
2g.73572562C=CA1261021301ALMS1c.10304C= (p.Thr3435=)
c.3390C=
c.7585C=
c.4751C= (p.Thr1584=)
c.7630C=
c.10685C= (p.Thr3562=)
c.839C= (p.Thr280=)
c.2041C=
c.73C=
c.1782C=
c.4176C= (n.4176C=)
c.10559C= (p.Thr3520=)
n.4488C=
c.10688C= (p.Thr3563=)
2g.73572562C>GCA347284804ALMS1c.10304C>G (p.Thr3435Ser)
c.3390C>G
c.7585C>G
c.4751C>G (p.Thr1584Ser)
c.7630C>G
c.10685C>G (p.Thr3562Ser)
c.839C>G (p.Thr280Ser)
c.2041C>G
c.73C>G
c.1782C>G
c.4176C>G (n.4176C>G)
c.10559C>G (p.Thr3520Ser)
n.4488C>G
c.10688C>G (p.Thr3563Ser)
 ClinVar dbSNP
2g.73572562C>TCA347284805ALMS1c.10304C>T (p.Thr3435Ile)
c.3390C>T
c.7585C>T
c.4751C>T (p.Thr1584Ile)
c.7630C>T
c.10685C>T (p.Thr3562Ile)
c.839C>T (p.Thr280Ile)
c.2041C>T
c.73C>T
c.1782C>T
c.4176C>T (n.4176C>T)
c.10559C>T (p.Thr3520Ile)
n.4488C>T
c.10688C>T (p.Thr3563Ile)
 ClinVar dbSNP gnomAD v4
2g.73572563T>ACA427024161ALMS1c.10305T>A (p.Thr3435=)
c.3391T>A
c.7586T>A
c.4752T>A (p.Thr1584=)
c.7631T>A
c.10686T>A (p.Thr3562=)
c.840T>A (p.Thr280=)
c.2042T>A
c.74T>A
c.1783T>A
c.4177T>A (n.4177T>A)
c.10560T>A (p.Thr3520=)
n.4489T>A
c.10689T>A (p.Thr3563=)
2g.73572563T>CCA427024162ALMS1c.10305T>C (p.Thr3435=)
c.3391T>C
c.7586T>C
c.4752T>C (p.Thr1584=)
c.7631T>C
c.10686T>C (p.Thr3562=)
c.840T>C (p.Thr280=)
c.2042T>C
c.74T>C
c.1783T>C
c.4177T>C (n.4177T>C)
c.10560T>C (p.Thr3520=)
n.4489T>C
c.10689T>C (p.Thr3563=)
 gnomAD v4
2g.73572563T>GCA427024164ALMS1c.10305T>G (p.Thr3435=)
c.3391T>G
c.7586T>G
c.4752T>G (p.Thr1584=)
c.7631T>G
c.10686T>G (p.Thr3562=)
c.840T>G (p.Thr280=)
c.2042T>G
c.74T>G
c.1783T>G
c.4177T>G (n.4177T>G)
c.10560T>G (p.Thr3520=)
n.4489T>G
c.10689T>G (p.Thr3563=)
2g.73572564A>CCA347284815ALMS1c.10306A>C (p.Thr3436Pro)
c.3392A>C
c.7587A>C
c.4753A>C (p.Thr1585Pro)
c.7632A>C
c.10687A>C (p.Thr3563Pro)
c.841A>C (p.Thr281Pro)
c.2043A>C
c.75A>C
c.1784A>C
c.4178A>C (n.4178A>C)
c.10561A>C (p.Thr3521Pro)
n.4490A>C
c.10690A>C (p.Thr3564Pro)
2g.73572564A>GCA347284818ALMS1c.10306A>G (p.Thr3436Ala)
c.3392A>G
c.7587A>G
c.4753A>G (p.Thr1585Ala)
c.7632A>G
c.10687A>G (p.Thr3563Ala)
c.841A>G (p.Thr281Ala)
c.2043A>G
c.75A>G
c.1784A>G
c.4178A>G (n.4178A>G)
c.10561A>G (p.Thr3521Ala)
n.4490A>G
c.10690A>G (p.Thr3564Ala)
2g.73572564A>TCA347284811ALMS1c.10306A>T (p.Thr3436Ser)
c.3392A>T
c.7587A>T
c.4753A>T (p.Thr1585Ser)
c.7632A>T
c.10687A>T (p.Thr3563Ser)
c.841A>T (p.Thr281Ser)
c.2043A>T
c.75A>T
c.1784A>T
c.4178A>T (n.4178A>T)
c.10561A>T (p.Thr3521Ser)
n.4490A>T
c.10690A>T (p.Thr3564Ser)
2g.73572565C>ACA347284821ALMS1c.10307C>A (p.Thr3436Asn)
c.3393C>A
c.7588C>A
c.4754C>A (p.Thr1585Asn)
c.7633C>A
c.10688C>A (p.Thr3563Asn)
c.842C>A (p.Thr281Asn)
c.2044C>A
c.76C>A
c.1785C>A
c.4179C>A (n.4179C>A)
c.10562C>A (p.Thr3521Asn)
n.4491C>A
c.10691C>A (p.Thr3564Asn)
2g.73572565C=CA1261021304ALMS1c.10307C= (p.Thr3436=)
c.3393C=
c.7588C=
c.4754C= (p.Thr1585=)
c.7633C=
c.10688C= (p.Thr3563=)
c.842C= (p.Thr281=)
c.2044C=
c.76C=
c.1785C=
c.4179C= (n.4179C=)
c.10562C= (p.Thr3521=)
n.4491C=
c.10691C= (p.Thr3564=)
2g.73572565C>GCA347284824ALMS1c.10307C>G (p.Thr3436Ser)
c.3393C>G
c.7588C>G
c.4754C>G (p.Thr1585Ser)
c.7633C>G
c.10688C>G (p.Thr3563Ser)
c.842C>G (p.Thr281Ser)
c.2044C>G
c.76C>G
c.1785C>G
c.4179C>G (n.4179C>G)
c.10562C>G (p.Thr3521Ser)
n.4491C>G
c.10691C>G (p.Thr3564Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.73572565C>TCA347284826ALMS1c.10307C>T (p.Thr3436Ile)
c.3393C>T
c.7588C>T
c.4754C>T (p.Thr1585Ile)
c.7633C>T
c.10688C>T (p.Thr3563Ile)
c.842C>T (p.Thr281Ile)
c.2044C>T
c.76C>T
c.1785C>T
c.4179C>T (n.4179C>T)
c.10562C>T (p.Thr3521Ile)
n.4491C>T
c.10691C>T (p.Thr3564Ile)
2g.73572566T>ACA427024169ALMS1c.10308T>A (p.Thr3436=)
c.3394T>A
c.7589T>A
c.4755T>A (p.Thr1585=)
c.7634T>A
c.10689T>A (p.Thr3563=)
c.843T>A (p.Thr281=)
c.2045T>A
c.77T>A
c.1786T>A
c.4180T>A (n.4180T>A)
c.10563T>A (p.Thr3521=)
n.4492T>A
c.10692T>A (p.Thr3564=)
2g.73572566T>CCA427024168ALMS1c.10308T>C (p.Thr3436=)
c.3394T>C
c.7589T>C
c.4755T>C (p.Thr1585=)
c.7634T>C
c.10689T>C (p.Thr3563=)
c.843T>C (p.Thr281=)
c.2045T>C
c.77T>C
c.1786T>C
c.4180T>C (n.4180T>C)
c.10563T>C (p.Thr3521=)
n.4492T>C
c.10692T>C (p.Thr3564=)
 ClinVar
2g.73572566T>GCA427024167ALMS1c.10308T>G (p.Thr3436=)
c.3394T>G
c.7589T>G
c.4755T>G (p.Thr1585=)
c.7634T>G
c.10689T>G (p.Thr3563=)
c.843T>G (p.Thr281=)
c.2045T>G
c.77T>G
c.1786T>G
c.4180T>G (n.4180T>G)
c.10563T>G (p.Thr3521=)
n.4492T>G
c.10692T>G (p.Thr3564=)
2g.73572567A>CCA347284830ALMS1c.10309A>C (p.Lys3437Gln)
c.3395A>C
c.7590A>C
c.4756A>C (p.Lys1586Gln)
c.7635A>C
c.10690A>C (p.Lys3564Gln)
c.844A>C (p.Lys282Gln)
c.2046A>C
c.78A>C
c.1787A>C
c.4181A>C (n.4181A>C)
c.10564A>C (p.Lys3522Gln)
n.4493A>C
c.10693A>C (p.Lys3565Gln)
 gnomAD v4
2g.73572567A>GCA347284833ALMS1c.10309A>G (p.Lys3437Glu)
c.3395A>G
c.7590A>G
c.4756A>G (p.Lys1586Glu)
c.7635A>G
c.10690A>G (p.Lys3564Glu)
c.844A>G (p.Lys282Glu)
c.2046A>G
c.78A>G
c.1787A>G
c.4181A>G (n.4181A>G)
c.10564A>G (p.Lys3522Glu)
n.4493A>G
c.10693A>G (p.Lys3565Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.73572567A>TCA347284836ALMS1c.10309A>T (p.Lys3437Ter)
c.3395A>T
c.7590A>T
c.4756A>T (p.Lys1586Ter)
c.7635A>T
c.10690A>T (p.Lys3564Ter)
c.844A>T (p.Lys282Ter)
c.2046A>T
c.78A>T
c.1787A>T
c.4181A>T (n.4181A>T)
c.10564A>T (p.Lys3522Ter)
n.4493A>T
c.10693A>T (p.Lys3565Ter)
2g.73572568A>CCA347284848ALMS1c.10310A>C (p.Lys3437Thr)
c.3396A>C
c.7591A>C
c.4757A>C (p.Lys1586Thr)
c.7636A>C
c.10691A>C (p.Lys3564Thr)
c.845A>C (p.Lys282Thr)
c.2047A>C
c.79A>C
c.1788A>C
c.4182A>C (n.4182A>C)
c.10565A>C (p.Lys3522Thr)
n.4494A>C
c.10694A>C (p.Lys3565Thr)
2g.73572568A>GCA347284841ALMS1c.10310A>G (p.Lys3437Arg)
c.3396A>G
c.7591A>G
c.4757A>G (p.Lys1586Arg)
c.7636A>G
c.10691A>G (p.Lys3564Arg)
c.845A>G (p.Lys282Arg)
c.2047A>G
c.79A>G
c.1788A>G
c.4182A>G (n.4182A>G)
c.10565A>G (p.Lys3522Arg)
n.4494A>G
c.10694A>G (p.Lys3565Arg)
2g.73572568A>TCA347284845ALMS1c.10310A>T (p.Lys3437Ile)
c.3396A>T
c.7591A>T
c.4757A>T (p.Lys1586Ile)
c.7636A>T
c.10691A>T (p.Lys3564Ile)
c.845A>T (p.Lys282Ile)
c.2047A>T
c.79A>T
c.1788A>T
c.4182A>T (n.4182A>T)
c.10565A>T (p.Lys3522Ile)
n.4494A>T
c.10694A>T (p.Lys3565Ile)
2g.73572569A=CA1261021307ALMS1c.10311A= (p.Lys3437=)
c.3397A=
c.7592A=
c.4758A= (p.Lys1586=)
c.7637A=
c.10692A= (p.Lys3564=)
c.846A= (p.Lys282=)
c.2048A=
c.80A=
c.1789A=
c.4183A= (n.4183A=)
c.10566A= (p.Lys3522=)
n.4495A=
c.10695A= (p.Lys3565=)
2g.73572569A>CCA347284853ALMS1c.10311A>C (p.Lys3437Asn)
c.3397A>C
c.7592A>C
c.4758A>C (p.Lys1586Asn)
c.7637A>C
c.10692A>C (p.Lys3564Asn)
c.846A>C (p.Lys282Asn)
c.2048A>C
c.80A>C
c.1789A>C
c.4183A>C (n.4183A>C)
c.10566A>C (p.Lys3522Asn)
n.4495A>C
c.10695A>C (p.Lys3565Asn)
2g.73572569A>GCA427024175ALMS1c.10311A>G (p.Lys3437=)
c.3397A>G
c.7592A>G
c.4758A>G (p.Lys1586=)
c.7637A>G
c.10692A>G (p.Lys3564=)
c.846A>G (p.Lys282=)
c.2048A>G
c.80A>G
c.1789A>G
c.4183A>G (n.4183A>G)
c.10566A>G (p.Lys3522=)
n.4495A>G
c.10695A>G (p.Lys3565=)
2g.73572569A>TCA347284856ALMS1c.10311A>T (p.Lys3437Asn)
c.3397A>T
c.7592A>T
c.4758A>T (p.Lys1586Asn)
c.7637A>T
c.10692A>T (p.Lys3564Asn)
c.846A>T (p.Lys282Asn)
c.2048A>T
c.80A>T
c.1789A>T
c.4183A>T (n.4183A>T)
c.10566A>T (p.Lys3522Asn)
n.4495A>T
c.10695A>T (p.Lys3565Asn)
 dbSNP
2g.73572570A=CA1261021310ALMS1c.10312A= (p.Ser3438=)
c.3398A=
c.7593A=
c.4759A= (p.Ser1587=)
c.7638A=
c.10693A= (p.Ser3565=)
c.847A= (p.Ser283=)
c.2049A=
c.81A=
c.1790A=
c.4184A= (n.4184A=)
c.10567A= (p.Ser3523=)
n.4496A=
c.10696A= (p.Ser3566=)
2g.73572570A>CCA347284863ALMS1c.10312A>C (p.Ser3438Arg)
c.3398A>C
c.7593A>C
c.4759A>C (p.Ser1587Arg)
c.7638A>C
c.10693A>C (p.Ser3565Arg)
c.847A>C (p.Ser283Arg)
c.2049A>C
c.81A>C
c.1790A>C
c.4184A>C (n.4184A>C)
c.10567A>C (p.Ser3523Arg)
n.4496A>C
c.10696A>C (p.Ser3566Arg)
2g.73572570A>GCA347284865ALMS1c.10312A>G (p.Ser3438Gly)
c.3398A>G
c.7593A>G
c.4759A>G (p.Ser1587Gly)
c.7638A>G
c.10693A>G (p.Ser3565Gly)
c.847A>G (p.Ser283Gly)
c.2049A>G
c.81A>G
c.1790A>G
c.4184A>G (n.4184A>G)
c.10567A>G (p.Ser3523Gly)
n.4496A>G
c.10696A>G (p.Ser3566Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.73572570A>TCA347284867ALMS1c.10312A>T (p.Ser3438Cys)
c.3398A>T
c.7593A>T
c.4759A>T (p.Ser1587Cys)
c.7638A>T
c.10693A>T (p.Ser3565Cys)
c.847A>T (p.Ser283Cys)
c.2049A>T
c.81A>T
c.1790A>T
c.4184A>T (n.4184A>T)
c.10567A>T (p.Ser3523Cys)
n.4496A>T
c.10696A>T (p.Ser3566Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572571G>ACA347284869ALMS1c.10313G>A (p.Ser3438Asn)
c.3399G>A
c.7594G>A
c.4760G>A (p.Ser1587Asn)
c.7639G>A
c.10694G>A (p.Ser3565Asn)
c.848G>A (p.Ser283Asn)
c.2050G>A
c.82G>A
c.1791G>A
c.4185G>A (n.4185G>A)
c.10568G>A (p.Ser3523Asn)
n.4497G>A
c.10697G>A (p.Ser3566Asn)
2g.73572571G>CCA347284872ALMS1c.10313G>C (p.Ser3438Thr)
c.3399G>C
c.7594G>C
c.4760G>C (p.Ser1587Thr)
c.7639G>C
c.10694G>C (p.Ser3565Thr)
c.848G>C (p.Ser283Thr)
c.2050G>C
c.82G>C
c.1791G>C
c.4185G>C (n.4185G>C)
c.10568G>C (p.Ser3523Thr)
n.4497G>C
c.10697G>C (p.Ser3566Thr)
2g.73572571G>TCA347284870ALMS1c.10313G>T (p.Ser3438Ile)
c.3399G>T
c.7594G>T
c.4760G>T (p.Ser1587Ile)
c.7639G>T
c.10694G>T (p.Ser3565Ile)
c.848G>T (p.Ser283Ile)
c.2050G>T
c.82G>T
c.1791G>T
c.4185G>T (n.4185G>T)
c.10568G>T (p.Ser3523Ile)
n.4497G>T
c.10697G>T (p.Ser3566Ile)
 gnomAD v4
2g.73572572T>ACA347284874ALMS1c.10314T>A (p.Ser3438Arg)
c.3400T>A
c.7595T>A
c.4761T>A (p.Ser1587Arg)
c.7640T>A
c.10695T>A (p.Ser3565Arg)
c.849T>A (p.Ser283Arg)
c.2051T>A
c.83T>A
c.1792T>A
c.4186T>A (n.4186T>A)
c.10569T>A (p.Ser3523Arg)
n.4498T>A
c.10698T>A (p.Ser3566Arg)
2g.73572572T>CCA427024178ALMS1c.10314T>C (p.Ser3438=)
c.3400T>C
c.7595T>C
c.4761T>C (p.Ser1587=)
c.7640T>C
c.10695T>C (p.Ser3565=)
c.849T>C (p.Ser283=)
c.2051T>C
c.83T>C
c.1792T>C
c.4186T>C (n.4186T>C)
c.10569T>C (p.Ser3523=)
n.4498T>C
c.10698T>C (p.Ser3566=)
2g.73572572T>GCA347284876ALMS1c.10314T>G (p.Ser3438Arg)
c.3400T>G
c.7595T>G
c.4761T>G (p.Ser1587Arg)
c.7640T>G
c.10695T>G (p.Ser3565Arg)
c.849T>G (p.Ser283Arg)
c.2051T>G
c.83T>G
c.1792T>G
c.4186T>G (n.4186T>G)
c.10569T>G (p.Ser3523Arg)
n.4498T>G
c.10698T>G (p.Ser3566Arg)
2g.73572573C>ACA347284880ALMS1c.10315C>A (p.Gln3439Lys)
c.3401C>A
c.7596C>A
c.4762C>A (p.Gln1588Lys)
c.7641C>A
c.10696C>A (p.Gln3566Lys)
c.850C>A (p.Gln284Lys)
c.2052C>A
c.84C>A
c.1793C>A
c.4187C>A (n.4187C>A)
c.10570C>A (p.Gln3524Lys)
n.4499C>A
c.10699C>A (p.Gln3567Lys)
 gnomAD v4
2g.73572573C=CA1261021316ALMS1c.10315C= (p.Gln3439=)
c.3401C=
c.7596C=
c.4762C= (p.Gln1588=)
c.7641C=
c.10696C= (p.Gln3566=)
c.850C= (p.Gln284=)
c.2052C=
c.84C=
c.1793C=
c.4187C= (n.4187C=)
c.10570C= (p.Gln3524=)
n.4499C=
c.10699C= (p.Gln3567=)
2g.73572573C>GCA50386373ALMS1c.10315C>G (p.Gln3439Glu)
c.3401C>G
c.7596C>G
c.4762C>G (p.Gln1588Glu)
c.7641C>G
c.10696C>G (p.Gln3566Glu)
c.850C>G (p.Gln284Glu)
c.2052C>G
c.84C>G
c.1793C>G
c.4187C>G (n.4187C>G)
c.10570C>G (p.Gln3524Glu)
n.4499C>G
c.10699C>G (p.Gln3567Glu)
 dbSNP gnomAD v4
2g.73572573C>TCA347284887ALMS1c.10315C>T (p.Gln3439Ter)
c.3401C>T
c.7596C>T
c.4762C>T (p.Gln1588Ter)
c.7641C>T
c.10696C>T (p.Gln3566Ter)
c.850C>T (p.Gln284Ter)
c.2052C>T
c.84C>T
c.1793C>T
c.4187C>T (n.4187C>T)
c.10570C>T (p.Gln3524Ter)
n.4499C>T
c.10699C>T (p.Gln3567Ter)
 dbSNP gnomAD v2
2g.73572574A>CCA347284892ALMS1c.10316A>C (p.Gln3439Pro)
c.3402A>C
c.7597A>C
c.4763A>C (p.Gln1588Pro)
c.7642A>C
c.10697A>C (p.Gln3566Pro)
c.851A>C (p.Gln284Pro)
c.2053A>C
c.85A>C
c.1794A>C
c.4188A>C (n.4188A>C)
c.10571A>C (p.Gln3524Pro)
n.4500A>C
c.10700A>C (p.Gln3567Pro)
2g.73572574A>GCA347284895ALMS1c.10316A>G (p.Gln3439Arg)
c.3402A>G
c.7597A>G
c.4763A>G (p.Gln1588Arg)
c.7642A>G
c.10697A>G (p.Gln3566Arg)
c.851A>G (p.Gln284Arg)
c.2053A>G
c.85A>G
c.1794A>G
c.4188A>G (n.4188A>G)
c.10571A>G (p.Gln3524Arg)
n.4500A>G
c.10700A>G (p.Gln3567Arg)
2g.73572574A>TCA347284899ALMS1c.10316A>T (p.Gln3439Leu)
c.3402A>T
c.7597A>T
c.4763A>T (p.Gln1588Leu)
c.7642A>T
c.10697A>T (p.Gln3566Leu)
c.851A>T (p.Gln284Leu)
c.2053A>T
c.85A>T
c.1794A>T
c.4188A>T (n.4188A>T)
c.10571A>T (p.Gln3524Leu)
n.4500A>T
c.10700A>T (p.Gln3567Leu)
2g.73572575_73572579delCA2697548291ALMS1c.10317_10321del (p.Val3440ArgfsTer6)
c.3403_3407del
c.7598_7602del
c.4764_4768del (p.Val1589ArgfsTer6)
c.7643_7647del
c.10698_10702del (p.Val3567ArgfsTer6)
c.852_856del (p.Val285ArgfsTer6)
c.2054_2058del
c.86_90del
c.1795_1799del
c.4189_4193del (n.4189_4193del)
c.10572_10576del (p.Val3525ArgfsTer6)
n.4501_4505del
c.10701_10705del (p.Val3568ArgfsTer6)
 ClinVar
2g.73572575A>CCA347284906ALMS1c.10317A>C (p.Gln3439His)
c.3403A>C
c.7598A>C
c.4764A>C (p.Gln1588His)
c.7643A>C
c.10698A>C (p.Gln3566His)
c.852A>C (p.Gln284His)
c.2054A>C
c.86A>C
c.1795A>C
c.4189A>C (n.4189A>C)
c.10572A>C (p.Gln3524His)
n.4501A>C
c.10701A>C (p.Gln3567His)
2g.73572575A>GCA427024181ALMS1c.10317A>G (p.Gln3439=)
c.3403A>G
c.7598A>G
c.4764A>G (p.Gln1588=)
c.7643A>G
c.10698A>G (p.Gln3566=)
c.852A>G (p.Gln284=)
c.2054A>G
c.86A>G
c.1795A>G
c.4189A>G (n.4189A>G)
c.10572A>G (p.Gln3524=)
n.4501A>G
c.10701A>G (p.Gln3567=)
2g.73572575A>TCA347284909ALMS1c.10317A>T (p.Gln3439His)
c.3403A>T
c.7598A>T
c.4764A>T (p.Gln1588His)
c.7643A>T
c.10698A>T (p.Gln3566His)
c.852A>T (p.Gln284His)
c.2054A>T
c.86A>T
c.1795A>T
c.4189A>T (n.4189A>T)
c.10572A>T (p.Gln3524His)
n.4501A>T
c.10701A>T (p.Gln3567His)
2g.73572576G>ACA347284914ALMS1c.10318G>A (p.Val3440Ile)
c.3404G>A
c.7599G>A
c.4765G>A (p.Val1589Ile)
c.7644G>A
c.10699G>A (p.Val3567Ile)
c.853G>A (p.Val285Ile)
c.2055G>A
c.87G>A
c.1796G>A
c.4190G>A (n.4190G>A)
c.10573G>A (p.Val3525Ile)
n.4502G>A
c.10702G>A (p.Val3568Ile)
 gnomAD v2 gnomAD v4
2g.73572576G>CCA347284922ALMS1c.10318G>C (p.Val3440Leu)
c.3404G>C
c.7599G>C
c.4765G>C (p.Val1589Leu)
c.7644G>C
c.10699G>C (p.Val3567Leu)
c.853G>C (p.Val285Leu)
c.2055G>C
c.87G>C
c.1796G>C
c.4190G>C (n.4190G>C)
c.10573G>C (p.Val3525Leu)
n.4502G>C
c.10702G>C (p.Val3568Leu)
2g.73572576G>TCA347284918ALMS1c.10318G>T (p.Val3440Phe)
c.3404G>T
c.7599G>T
c.4765G>T (p.Val1589Phe)
c.7644G>T
c.10699G>T (p.Val3567Phe)
c.853G>T (p.Val285Phe)
c.2055G>T
c.87G>T
c.1796G>T
c.4190G>T (n.4190G>T)
c.10573G>T (p.Val3525Phe)
n.4502G>T
c.10702G>T (p.Val3568Phe)
2g.73572577T>ACA347284926ALMS1c.10319T>A (p.Val3440Asp)
c.3405T>A
c.7600T>A
c.4766T>A (p.Val1589Asp)
c.7645T>A
c.10700T>A (p.Val3567Asp)
c.854T>A (p.Val285Asp)
c.2056T>A
c.88T>A
c.1797T>A
c.4191T>A (n.4191T>A)
c.10574T>A (p.Val3525Asp)
n.4503T>A
c.10703T>A (p.Val3568Asp)
2g.73572577T>CCA347284933ALMS1c.10319T>C (p.Val3440Ala)
c.3405T>C
c.7600T>C
c.4766T>C (p.Val1589Ala)
c.7645T>C
c.10700T>C (p.Val3567Ala)
c.854T>C (p.Val285Ala)
c.2056T>C
c.88T>C
c.1797T>C
c.4191T>C (n.4191T>C)
c.10574T>C (p.Val3525Ala)
n.4503T>C
c.10703T>C (p.Val3568Ala)
 dbSNP gnomAD v4
2g.73572577T>GCA347284930ALMS1c.10319T>G (p.Val3440Gly)
c.3405T>G
c.7600T>G
c.4766T>G (p.Val1589Gly)
c.7645T>G
c.10700T>G (p.Val3567Gly)
c.854T>G (p.Val285Gly)
c.2056T>G
c.88T>G
c.1797T>G
c.4191T>G (n.4191T>G)
c.10574T>G (p.Val3525Gly)
n.4503T>G
c.10703T>G (p.Val3568Gly)
2g.73572578T>ACA427024187ALMS1c.10320T>A (p.Val3440=)
c.3406T>A
c.7601T>A
c.4767T>A (p.Val1589=)
c.7646T>A
c.10701T>A (p.Val3567=)
c.855T>A (p.Val285=)
c.2057T>A
c.89T>A
c.1798T>A
c.4192T>A (n.4192T>A)
c.10575T>A (p.Val3525=)
n.4504T>A
c.10704T>A (p.Val3568=)
2g.73572578T>CCA427024189ALMS1c.10320T>C (p.Val3440=)
c.3406T>C
c.7601T>C
c.4767T>C (p.Val1589=)
c.7646T>C
c.10701T>C (p.Val3567=)
c.855T>C (p.Val285=)
c.2057T>C
c.89T>C
c.1798T>C
c.4192T>C (n.4192T>C)
c.10575T>C (p.Val3525=)
n.4504T>C
c.10704T>C (p.Val3568=)
 ClinVar dbSNP gnomAD v4
2g.73572578T>GCA427024190ALMS1c.10320T>G (p.Val3440=)
c.3406T>G
c.7601T>G
c.4767T>G (p.Val1589=)
c.7646T>G
c.10701T>G (p.Val3567=)
c.855T>G (p.Val285=)
c.2057T>G
c.89T>G
c.1798T>G
c.4192T>G (n.4192T>G)
c.10575T>G (p.Val3525=)
n.4504T>G
c.10704T>G (p.Val3568=)
2g.73572579A>CCA427024191ALMS1c.10321A>C (p.Arg3441=)
c.3407A>C
c.7602A>C
c.4768A>C (p.Arg1590=)
c.7647A>C
c.10702A>C (p.Arg3568=)
c.856A>C (p.Arg286=)
c.2058A>C
c.90A>C
c.1799A>C
c.4193A>C (n.4193A>C)
c.10576A>C (p.Arg3526=)
n.4505A>C
c.10705A>C (p.Arg3569=)
2g.73572579A>GCA347284937ALMS1c.10321A>G (p.Arg3441Gly)
c.3407A>G
c.7602A>G
c.4768A>G (p.Arg1590Gly)
c.7647A>G
c.10702A>G (p.Arg3568Gly)
c.856A>G (p.Arg286Gly)
c.2058A>G
c.90A>G
c.1799A>G
c.4193A>G (n.4193A>G)
c.10576A>G (p.Arg3526Gly)
n.4505A>G
c.10705A>G (p.Arg3569Gly)
2g.73572579A>TCA347284940ALMS1c.10321A>T (p.Arg3441Ter)
c.3407A>T
c.7602A>T
c.4768A>T (p.Arg1590Ter)
c.7647A>T
c.10702A>T (p.Arg3568Ter)
c.856A>T (p.Arg286Ter)
c.2058A>T
c.90A>T
c.1799A>T
c.4193A>T (n.4193A>T)
c.10576A>T (p.Arg3526Ter)
n.4505A>T
c.10705A>T (p.Arg3569Ter)
2g.73572580G>ACA347284943ALMS1c.10322G>A (p.Arg3441Lys)
c.3408G>A
c.7603G>A
c.4769G>A (p.Arg1590Lys)
c.7648G>A
c.10703G>A (p.Arg3568Lys)
c.857G>A (p.Arg286Lys)
c.2059G>A
c.91G>A
c.1800G>A
c.4194G>A (n.4194G>A)
c.10577G>A (p.Arg3526Lys)
n.4506G>A
c.10706G>A (p.Arg3569Lys)
2g.73572580G>CCA347284948ALMS1c.10322G>C (p.Arg3441Thr)
c.3408G>C
c.7603G>C
c.4769G>C (p.Arg1590Thr)
c.7648G>C
c.10703G>C (p.Arg3568Thr)
c.857G>C (p.Arg286Thr)
c.2059G>C
c.91G>C
c.1800G>C
c.4194G>C (n.4194G>C)
c.10577G>C (p.Arg3526Thr)
n.4506G>C
c.10706G>C (p.Arg3569Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572580G=CA1261021322ALMS1c.10322G= (p.Arg3441=)
c.3408G=
c.7603G=
c.4769G= (p.Arg1590=)
c.7648G=
c.10703G= (p.Arg3568=)
c.857G= (p.Arg286=)
c.2059G=
c.91G=
c.1800G=
c.4194G= (n.4194G=)
c.10577G= (p.Arg3526=)
n.4506G=
c.10706G= (p.Arg3569=)
2g.73572580G>TCA347284953ALMS1c.10322G>T (p.Arg3441Ile)
c.3408G>T
c.7603G>T
c.4769G>T (p.Arg1590Ile)
c.7648G>T
c.10703G>T (p.Arg3568Ile)
c.857G>T (p.Arg286Ile)
c.2059G>T
c.91G>T
c.1800G>T
c.4194G>T (n.4194G>T)
c.10577G>T (p.Arg3526Ile)
n.4506G>T
c.10706G>T (p.Arg3569Ile)
2g.73572581A=CA1261021324ALMS1c.10323A= (p.Arg3441=)
c.3409A=
c.7604A=
c.4770A= (p.Arg1590=)
c.7649A=
c.10704A= (p.Arg3568=)
c.858A= (p.Arg286=)
c.2060A=
c.92A=
c.1801A=
c.4195A= (n.4195A=)
c.10578A= (p.Arg3526=)
n.4507A=
c.10707A= (p.Arg3569=)
2g.73572581A>CCA1715045ALMS1c.10323A>C (p.Arg3441Ser)
c.3409A>C
c.7604A>C
c.4770A>C (p.Arg1590Ser)
c.7649A>C
c.10704A>C (p.Arg3568Ser)
c.858A>C (p.Arg286Ser)
c.2060A>C
c.92A>C
c.1801A>C
c.4195A>C (n.4195A>C)
c.10578A>C (p.Arg3526Ser)
n.4507A>C
c.10707A>C (p.Arg3569Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572581A>GCA427024198ALMS1c.10323A>G (p.Arg3441=)
c.3409A>G
c.7604A>G
c.4770A>G (p.Arg1590=)
c.7649A>G
c.10704A>G (p.Arg3568=)
c.858A>G (p.Arg286=)
c.2060A>G
c.92A>G
c.1801A>G
c.4195A>G (n.4195A>G)
c.10578A>G (p.Arg3526=)
n.4507A>G
c.10707A>G (p.Arg3569=)
2g.73572581A>TCA347284961ALMS1c.10323A>T (p.Arg3441Ser)
c.3409A>T
c.7604A>T
c.4770A>T (p.Arg1590Ser)
c.7649A>T
c.10704A>T (p.Arg3568Ser)
c.858A>T (p.Arg286Ser)
c.2060A>T
c.92A>T
c.1801A>T
c.4195A>T (n.4195A>T)
c.10578A>T (p.Arg3526Ser)
n.4507A>T
c.10707A>T (p.Arg3569Ser)
2g.73572582G>ACA347284968ALMS1c.10324G>A (p.Asp3442Asn)
c.3410G>A
c.7605G>A
c.4771G>A (p.Asp1591Asn)
c.7650G>A
c.10705G>A (p.Asp3569Asn)
c.859G>A (p.Asp287Asn)
c.2061G>A
c.93G>A
c.1802G>A
c.4196G>A (n.4196G>A)
c.10579G>A (p.Asp3527Asn)
n.4508G>A
c.10708G>A (p.Asp3570Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.73572582G>CCA347284971ALMS1c.10324G>C (p.Asp3442His)
c.3410G>C
c.7605G>C
c.4771G>C (p.Asp1591His)
c.7650G>C
c.10705G>C (p.Asp3569His)
c.859G>C (p.Asp287His)
c.2061G>C
c.93G>C
c.1802G>C
c.4196G>C (n.4196G>C)
c.10579G>C (p.Asp3527His)
n.4508G>C
c.10708G>C (p.Asp3570His)
2g.73572582G=CA1261021328ALMS1c.10324G= (p.Asp3442=)
c.3410G=
c.7605G=
c.4771G= (p.Asp1591=)
c.7650G=
c.10705G= (p.Asp3569=)
c.859G= (p.Asp287=)
c.2061G=
c.93G=
c.1802G=
c.4196G= (n.4196G=)
c.10579G= (p.Asp3527=)
n.4508G=
c.10708G= (p.Asp3570=)
2g.73572582G>TCA347284976ALMS1c.10324G>T (p.Asp3442Tyr)
c.3410G>T
c.7605G>T
c.4771G>T (p.Asp1591Tyr)
c.7650G>T
c.10705G>T (p.Asp3569Tyr)
c.859G>T (p.Asp287Tyr)
c.2061G>T
c.93G>T
c.1802G>T
c.4196G>T (n.4196G>T)
c.10579G>T (p.Asp3527Tyr)
n.4508G>T
c.10708G>T (p.Asp3570Tyr)
2g.73572583A>CCA347284980ALMS1c.10325A>C (p.Asp3442Ala)
c.3411A>C
c.7606A>C
c.4772A>C (p.Asp1591Ala)
c.7651A>C
c.10706A>C (p.Asp3569Ala)
c.860A>C (p.Asp287Ala)
c.2062A>C
c.94A>C
c.1803A>C
c.4197A>C (n.4197A>C)
c.10580A>C (p.Asp3527Ala)
n.4509A>C
c.10709A>C (p.Asp3570Ala)
2g.73572583A>GCA347284985ALMS1c.10325A>G (p.Asp3442Gly)
c.3411A>G
c.7606A>G
c.4772A>G (p.Asp1591Gly)
c.7651A>G
c.10706A>G (p.Asp3569Gly)
c.860A>G (p.Asp287Gly)
c.2062A>G
c.94A>G
c.1803A>G
c.4197A>G (n.4197A>G)
c.10580A>G (p.Asp3527Gly)
n.4509A>G
c.10709A>G (p.Asp3570Gly)
 gnomAD v4
2g.73572583A>TCA347284987ALMS1c.10325A>T (p.Asp3442Val)
c.3411A>T
c.7606A>T
c.4772A>T (p.Asp1591Val)
c.7651A>T
c.10706A>T (p.Asp3569Val)
c.860A>T (p.Asp287Val)
c.2062A>T
c.94A>T
c.1803A>T
c.4197A>T (n.4197A>T)
c.10580A>T (p.Asp3527Val)
n.4509A>T
c.10709A>T (p.Asp3570Val)
2g.73572584T>ACA347284999ALMS1c.10326T>A (p.Asp3442Glu)
c.3412T>A
c.7607T>A
c.4773T>A (p.Asp1591Glu)
c.7652T>A
c.10707T>A (p.Asp3569Glu)
c.861T>A (p.Asp287Glu)
c.2063T>A
c.95T>A
c.1804T>A
c.4198T>A (n.4198T>A)
c.10581T>A (p.Asp3527Glu)
n.4510T>A
c.10710T>A (p.Asp3570Glu)
2g.73572584T>CCA427024204ALMS1c.10326T>C (p.Asp3442=)
c.3412T>C
c.7607T>C
c.4773T>C (p.Asp1591=)
c.7652T>C
c.10707T>C (p.Asp3569=)
c.861T>C (p.Asp287=)
c.2063T>C
c.95T>C
c.1804T>C
c.4198T>C (n.4198T>C)
c.10581T>C (p.Asp3527=)
n.4510T>C
c.10710T>C (p.Asp3570=)
2g.73572584T>GCA347284994ALMS1c.10326T>G (p.Asp3442Glu)
c.3412T>G
c.7607T>G
c.4773T>G (p.Asp1591Glu)
c.7652T>G
c.10707T>G (p.Asp3569Glu)
c.861T>G (p.Asp287Glu)
c.2063T>G
c.95T>G
c.1804T>G
c.4198T>G (n.4198T>G)
c.10581T>G (p.Asp3527Glu)
n.4510T>G
c.10710T>G (p.Asp3570Glu)
2g.73572585T>ACA347285004ALMS1c.10327T>A (p.Tyr3443Asn)
c.3413T>A
c.7608T>A
c.4774T>A (p.Tyr1592Asn)
c.7653T>A
c.10708T>A (p.Tyr3570Asn)
c.862T>A (p.Tyr288Asn)
c.2064T>A
c.96T>A
c.1805T>A
c.4199T>A (n.4199T>A)
c.10582T>A (p.Tyr3528Asn)
n.4511T>A
c.10711T>A (p.Tyr3571Asn)
2g.73572585T>CCA347285006ALMS1c.10327T>C (p.Tyr3443His)
c.3413T>C
c.7608T>C
c.4774T>C (p.Tyr1592His)
c.7653T>C
c.10708T>C (p.Tyr3570His)
c.862T>C (p.Tyr288His)
c.2064T>C
c.96T>C
c.1805T>C
c.4199T>C (n.4199T>C)
c.10582T>C (p.Tyr3528His)
n.4511T>C
c.10711T>C (p.Tyr3571His)
2g.73572585T>GCA347285010ALMS1c.10327T>G (p.Tyr3443Asp)
c.3413T>G
c.7608T>G
c.4774T>G (p.Tyr1592Asp)
c.7653T>G
c.10708T>G (p.Tyr3570Asp)
c.862T>G (p.Tyr288Asp)
c.2064T>G
c.96T>G
c.1805T>G
c.4199T>G (n.4199T>G)
c.10582T>G (p.Tyr3528Asp)
n.4511T>G
c.10711T>G (p.Tyr3571Asp)
2g.73572586A>CCA347285016ALMS1c.10328A>C (p.Tyr3443Ser)
c.3414A>C
c.7609A>C
c.4775A>C (p.Tyr1592Ser)
c.7654A>C
c.10709A>C (p.Tyr3570Ser)
c.863A>C (p.Tyr288Ser)
c.2065A>C
c.97A>C
c.1806A>C
c.4200A>C (n.4200A>C)
c.10583A>C (p.Tyr3528Ser)
n.4512A>C
c.10712A>C (p.Tyr3571Ser)
2g.73572586A>GCA347285019ALMS1c.10328A>G (p.Tyr3443Cys)
c.3414A>G
c.7609A>G
c.4775A>G (p.Tyr1592Cys)
c.7654A>G
c.10709A>G (p.Tyr3570Cys)
c.863A>G (p.Tyr288Cys)
c.2065A>G
c.97A>G
c.1806A>G
c.4200A>G (n.4200A>G)
c.10583A>G (p.Tyr3528Cys)
n.4512A>G
c.10712A>G (p.Tyr3571Cys)
 ClinVar dbSNP gnomAD v4
2g.73572586A>TCA347285021ALMS1c.10328A>T (p.Tyr3443Phe)
c.3414A>T
c.7609A>T
c.4775A>T (p.Tyr1592Phe)
c.7654A>T
c.10709A>T (p.Tyr3570Phe)
c.863A>T (p.Tyr288Phe)
c.2065A>T
c.97A>T
c.1806A>T
c.4200A>T (n.4200A>T)
c.10583A>T (p.Tyr3528Phe)
n.4512A>T
c.10712A>T (p.Tyr3571Phe)
2g.73572587T>ACA347285025ALMS1c.10329T>A (p.Tyr3443Ter)
c.3415T>A
c.7610T>A
c.4776T>A (p.Tyr1592Ter)
c.7655T>A
c.10710T>A (p.Tyr3570Ter)
c.864T>A (p.Tyr288Ter)
c.2066T>A
c.98T>A
c.1807T>A
c.4201T>A (n.4201T>A)
c.10584T>A (p.Tyr3528Ter)
n.4513T>A
c.10713T>A (p.Tyr3571Ter)
2g.73572587T>CCA427024212ALMS1c.10329T>C (p.Tyr3443=)
c.3415T>C
c.7610T>C
c.4776T>C (p.Tyr1592=)
c.7655T>C
c.10710T>C (p.Tyr3570=)
c.864T>C (p.Tyr288=)
c.2066T>C
c.98T>C
c.1807T>C
c.4201T>C (n.4201T>C)
c.10584T>C (p.Tyr3528=)
n.4513T>C
c.10713T>C (p.Tyr3571=)
2g.73572587T>GCA347285026ALMS1c.10329T>G (p.Tyr3443Ter)
c.3415T>G
c.7610T>G
c.4776T>G (p.Tyr1592Ter)
c.7655T>G
c.10710T>G (p.Tyr3570Ter)
c.864T>G (p.Tyr288Ter)
c.2066T>G
c.98T>G
c.1807T>G
c.4201T>G (n.4201T>G)
c.10584T>G (p.Tyr3528Ter)
n.4513T>G
c.10713T>G (p.Tyr3571Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.73572587T=CA1261021330ALMS1c.10329T= (p.Tyr3443=)
c.3415T=
c.7610T=
c.4776T= (p.Tyr1592=)
c.7655T=
c.10710T= (p.Tyr3570=)
c.864T= (p.Tyr288=)
c.2066T=
c.98T=
c.1807T=
c.4201T= (n.4201T=)
c.10584T= (p.Tyr3528=)
n.4513T=
c.10713T= (p.Tyr3571=)
2g.73572588C>ACA347285029ALMS1c.10330C>A (p.Pro3444Thr)
c.3416C>A
c.7611C>A
c.4777C>A (p.Pro1593Thr)
c.7656C>A
c.10711C>A (p.Pro3571Thr)
c.865C>A (p.Pro289Thr)
c.2067C>A
c.99C>A
c.1808C>A
c.4202C>A (n.4202C>A)
c.10585C>A (p.Pro3529Thr)
n.4514C>A
c.10714C>A (p.Pro3572Thr)
2g.73572588C>GCA347285031ALMS1c.10330C>G (p.Pro3444Ala)
c.3416C>G
c.7611C>G
c.4777C>G (p.Pro1593Ala)
c.7656C>G
c.10711C>G (p.Pro3571Ala)
c.865C>G (p.Pro289Ala)
c.2067C>G
c.99C>G
c.1808C>G
c.4202C>G (n.4202C>G)
c.10585C>G (p.Pro3529Ala)
n.4514C>G
c.10714C>G (p.Pro3572Ala)
2g.73572588C>TCA347285033ALMS1c.10330C>T (p.Pro3444Ser)
c.3416C>T
c.7611C>T
c.4777C>T (p.Pro1593Ser)
c.7656C>T
c.10711C>T (p.Pro3571Ser)
c.865C>T (p.Pro289Ser)
c.2067C>T
c.99C>T
c.1808C>T
c.4202C>T (n.4202C>T)
c.10585C>T (p.Pro3529Ser)
n.4514C>T
c.10714C>T (p.Pro3572Ser)
2g.73572589C>ACA347285039ALMS1c.10331C>A (p.Pro3444Gln)
c.3417C>A
c.7612C>A
c.4778C>A (p.Pro1593Gln)
c.7657C>A
c.10712C>A (p.Pro3571Gln)
c.866C>A (p.Pro289Gln)
c.2068C>A
c.100C>A
c.1809C>A
c.4203C>A (n.4203C>A)
c.10586C>A (p.Pro3529Gln)
n.4515C>A
c.10715C>A (p.Pro3572Gln)
2g.73572589C=CA1261021336ALMS1c.10331C= (p.Pro3444=)
c.3417C=
c.7612C=
c.4778C= (p.Pro1593=)
c.7657C=
c.10712C= (p.Pro3571=)
c.866C= (p.Pro289=)
c.2068C=
c.100C=
c.1809C=
c.4203C= (n.4203C=)
c.10586C= (p.Pro3529=)
n.4515C=
c.10715C= (p.Pro3572=)
2g.73572589C>GCA347285042ALMS1c.10331C>G (p.Pro3444Arg)
c.3417C>G
c.7612C>G
c.4778C>G (p.Pro1593Arg)
c.7657C>G
c.10712C>G (p.Pro3571Arg)
c.866C>G (p.Pro289Arg)
c.2068C>G
c.100C>G
c.1809C>G
c.4203C>G (n.4203C>G)
c.10586C>G (p.Pro3529Arg)
n.4515C>G
c.10715C>G (p.Pro3572Arg)
 gnomAD v4
2g.73572589C>TCA347285037ALMS1c.10331C>T (p.Pro3444Leu)
c.3417C>T
c.7612C>T
c.4778C>T (p.Pro1593Leu)
c.7657C>T
c.10712C>T (p.Pro3571Leu)
c.866C>T (p.Pro289Leu)
c.2068C>T
c.100C>T
c.1809C>T
c.4203C>T (n.4203C>T)
c.10586C>T (p.Pro3529Leu)
n.4515C>T
c.10715C>T (p.Pro3572Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572590A>CCA427024221ALMS1c.10332A>C (p.Pro3444=)
c.3418A>C
c.7613A>C
c.4779A>C (p.Pro1593=)
c.7658A>C
c.10713A>C (p.Pro3571=)
c.867A>C (p.Pro289=)
c.2069A>C
c.101A>C
c.1810A>C
c.4204A>C (n.4204A>C)
c.10587A>C (p.Pro3529=)
n.4516A>C
c.10716A>C (p.Pro3572=)
2g.73572590A>GCA427024218ALMS1c.10332A>G (p.Pro3444=)
c.3418A>G
c.7613A>G
c.4779A>G (p.Pro1593=)
c.7658A>G
c.10713A>G (p.Pro3571=)
c.867A>G (p.Pro289=)
c.2069A>G
c.101A>G
c.1810A>G
c.4204A>G (n.4204A>G)
c.10587A>G (p.Pro3529=)
n.4516A>G
c.10716A>G (p.Pro3572=)
2g.73572590A>TCA427024216ALMS1c.10332A>T (p.Pro3444=)
c.3418A>T
c.7613A>T
c.4779A>T (p.Pro1593=)
c.7658A>T
c.10713A>T (p.Pro3571=)
c.867A>T (p.Pro289=)
c.2069A>T
c.101A>T
c.1810A>T
c.4204A>T (n.4204A>T)
c.10587A>T (p.Pro3529=)
n.4516A>T
c.10716A>T (p.Pro3572=)
2g.73572591A>CCA347285044ALMS1c.10333A>C (p.Lys3445Gln)
c.3419A>C
c.7614A>C
c.4780A>C (p.Lys1594Gln)
c.7659A>C
c.10714A>C (p.Lys3572Gln)
c.868A>C (p.Lys290Gln)
c.2070A>C
c.102A>C
c.1811A>C
c.4205A>C (n.4205A>C)
c.10588A>C (p.Lys3530Gln)
n.4517A>C
c.10717A>C (p.Lys3573Gln)
2g.73572591A>GCA347285047ALMS1c.10333A>G (p.Lys3445Glu)
c.3419A>G
c.7614A>G
c.4780A>G (p.Lys1594Glu)
c.7659A>G
c.10714A>G (p.Lys3572Glu)
c.868A>G (p.Lys290Glu)
c.2070A>G
c.102A>G
c.1811A>G
c.4205A>G (n.4205A>G)
c.10588A>G (p.Lys3530Glu)
n.4517A>G
c.10717A>G (p.Lys3573Glu)
 dbSNP
2g.73572591A>TCA347285049ALMS1c.10333A>T (p.Lys3445Ter)
c.3419A>T
c.7614A>T
c.4780A>T (p.Lys1594Ter)
c.7659A>T
c.10714A>T (p.Lys3572Ter)
c.868A>T (p.Lys290Ter)
c.2070A>T
c.102A>T
c.1811A>T
c.4205A>T (n.4205A>T)
c.10588A>T (p.Lys3530Ter)
n.4517A>T
c.10717A>T (p.Lys3573Ter)
2g.73572592A=CA1261021340ALMS1c.10334A= (p.Lys3445=)
c.3420A=
c.7615A=
c.4781A= (p.Lys1594=)
c.7660A=
c.10715A= (p.Lys3572=)
c.869A= (p.Lys290=)
c.2071A=
c.103A=
c.1812A=
c.4206A= (n.4206A=)
c.10589A= (p.Lys3530=)
n.4518A=
c.10718A= (p.Lys3573=)
2g.73572592A>CCA347285051ALMS1c.10334A>C (p.Lys3445Thr)
c.3420A>C
c.7615A>C
c.4781A>C (p.Lys1594Thr)
c.7660A>C
c.10715A>C (p.Lys3572Thr)
c.869A>C (p.Lys290Thr)
c.2071A>C
c.103A>C
c.1812A>C
c.4206A>C (n.4206A>C)
c.10589A>C (p.Lys3530Thr)
n.4518A>C
c.10718A>C (p.Lys3573Thr)
2g.73572592A>GCA1715046ALMS1c.10334A>G (p.Lys3445Arg)
c.3420A>G
c.7615A>G
c.4781A>G (p.Lys1594Arg)
c.7660A>G
c.10715A>G (p.Lys3572Arg)
c.869A>G (p.Lys290Arg)
c.2071A>G
c.103A>G
c.1812A>G
c.4206A>G (n.4206A>G)
c.10589A>G (p.Lys3530Arg)
n.4518A>G
c.10718A>G (p.Lys3573Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572592A>TCA347285054ALMS1c.10334A>T (p.Lys3445Ile)
c.3420A>T
c.7615A>T
c.4781A>T (p.Lys1594Ile)
c.7660A>T
c.10715A>T (p.Lys3572Ile)
c.869A>T (p.Lys290Ile)
c.2071A>T
c.103A>T
c.1812A>T
c.4206A>T (n.4206A>T)
c.10589A>T (p.Lys3530Ile)
n.4518A>T
c.10718A>T (p.Lys3573Ile)
2g.73572593A>CCA347285056ALMS1c.10335A>C (p.Lys3445Asn)
c.3421A>C
c.7616A>C
c.4782A>C (p.Lys1594Asn)
c.7661A>C
c.10716A>C (p.Lys3572Asn)
c.870A>C (p.Lys290Asn)
c.2072A>C
c.104A>C
c.1813A>C
c.4207A>C (n.4207A>C)
c.10590A>C (p.Lys3530Asn)
n.4519A>C
c.10719A>C (p.Lys3573Asn)
2g.73572593A>GCA427024226ALMS1c.10335A>G (p.Lys3445=)
c.3421A>G
c.7616A>G
c.4782A>G (p.Lys1594=)
c.7661A>G
c.10716A>G (p.Lys3572=)
c.870A>G (p.Lys290=)
c.2072A>G
c.104A>G
c.1813A>G
c.4207A>G (n.4207A>G)
c.10590A>G (p.Lys3530=)
n.4519A>G
c.10719A>G (p.Lys3573=)
 ClinVar dbSNP gnomAD v4
2g.73572593A>TCA347285057ALMS1c.10335A>T (p.Lys3445Asn)
c.3421A>T
c.7616A>T
c.4782A>T (p.Lys1594Asn)
c.7661A>T
c.10716A>T (p.Lys3572Asn)
c.870A>T (p.Lys290Asn)
c.2072A>T
c.104A>T
c.1813A>T
c.4207A>T (n.4207A>T)
c.10590A>T (p.Lys3530Asn)
n.4519A>T
c.10719A>T (p.Lys3573Asn)
2g.73572594C>ACA347285061ALMS1c.10336C>A (p.His3446Asn)
c.3422C>A
c.7617C>A
c.4783C>A (p.His1595Asn)
c.7662C>A
c.10717C>A (p.His3573Asn)
c.871C>A (p.His291Asn)
c.2073C>A
c.105C>A
c.1814C>A
c.4208C>A (n.4208C>A)
c.10591C>A (p.His3531Asn)
n.4520C>A
c.10720C>A (p.His3574Asn)
2g.73572594C>GCA347285062ALMS1c.10336C>G (p.His3446Asp)
c.3422C>G
c.7617C>G
c.4783C>G (p.His1595Asp)
c.7662C>G
c.10717C>G (p.His3573Asp)
c.871C>G (p.His291Asp)
c.2073C>G
c.105C>G
c.1814C>G
c.4208C>G (n.4208C>G)
c.10591C>G (p.His3531Asp)
n.4520C>G
c.10720C>G (p.His3574Asp)
2g.73572594C>TCA347285064ALMS1c.10336C>T (p.His3446Tyr)
c.3422C>T
c.7617C>T
c.4783C>T (p.His1595Tyr)
c.7662C>T
c.10717C>T (p.His3573Tyr)
c.871C>T (p.His291Tyr)
c.2073C>T
c.105C>T
c.1814C>T
c.4208C>T (n.4208C>T)
c.10591C>T (p.His3531Tyr)
n.4520C>T
c.10720C>T (p.His3574Tyr)
2g.73572595A=CA1261021346ALMS1c.10337A= (p.His3446=)
c.3423A=
c.7618A=
c.4784A= (p.His1595=)
c.7663A=
c.10718A= (p.His3573=)
c.872A= (p.His291=)
c.2074A=
c.106A=
c.1815A=
c.4209A= (n.4209A=)
c.10592A= (p.His3531=)
n.4521A=
c.10721A= (p.His3574=)
2g.73572595A>CCA347285069ALMS1c.10337A>C (p.His3446Pro)
c.3423A>C
c.7618A>C
c.4784A>C (p.His1595Pro)
c.7663A>C
c.10718A>C (p.His3573Pro)
c.872A>C (p.His291Pro)
c.2074A>C
c.106A>C
c.1815A>C
c.4209A>C (n.4209A>C)
c.10592A>C (p.His3531Pro)
n.4521A>C
c.10721A>C (p.His3574Pro)
2g.73572595A>GCA347285068ALMS1c.10337A>G (p.His3446Arg)
c.3423A>G
c.7618A>G
c.4784A>G (p.His1595Arg)
c.7663A>G
c.10718A>G (p.His3573Arg)
c.872A>G (p.His291Arg)
c.2074A>G
c.106A>G
c.1815A>G
c.4209A>G (n.4209A>G)
c.10592A>G (p.His3531Arg)
n.4521A>G
c.10721A>G (p.His3574Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.73572595A>TCA347285066ALMS1c.10337A>T (p.His3446Leu)
c.3423A>T
c.7618A>T
c.4784A>T (p.His1595Leu)
c.7663A>T
c.10718A>T (p.His3573Leu)
c.872A>T (p.His291Leu)
c.2074A>T
c.106A>T
c.1815A>T
c.4209A>T (n.4209A>T)
c.10592A>T (p.His3531Leu)
n.4521A>T
c.10721A>T (p.His3574Leu)
2g.73572596T>ACA347285075ALMS1c.10338T>A (p.His3446Gln)
c.3424T>A
c.7619T>A
c.4785T>A (p.His1595Gln)
c.7664T>A
c.10719T>A (p.His3573Gln)
c.873T>A (p.His291Gln)
c.2075T>A
c.107T>A
c.1816T>A
c.4210T>A (n.4210T>A)
c.10593T>A (p.His3531Gln)
n.4522T>A
c.10722T>A (p.His3574Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572596T>CCA427024228ALMS1c.10338T>C (p.His3446=)
c.3424T>C
c.7619T>C
c.4785T>C (p.His1595=)
c.7664T>C
c.10719T>C (p.His3573=)
c.873T>C (p.His291=)
c.2075T>C
c.107T>C
c.1816T>C
c.4210T>C (n.4210T>C)
c.10593T>C (p.His3531=)
n.4522T>C
c.10722T>C (p.His3574=)
2g.73572596T>GCA347285076ALMS1c.10338T>G (p.His3446Gln)
c.3424T>G
c.7619T>G
c.4785T>G (p.His1595Gln)
c.7664T>G
c.10719T>G (p.His3573Gln)
c.873T>G (p.His291Gln)
c.2075T>G
c.107T>G
c.1816T>G
c.4210T>G (n.4210T>G)
c.10593T>G (p.His3531Gln)
n.4522T>G
c.10722T>G (p.His3574Gln)
2g.73572596T=CA1261021350ALMS1c.10338T= (p.His3446=)
c.3424T=
c.7619T=
c.4785T= (p.His1595=)
c.7664T=
c.10719T= (p.His3573=)
c.873T= (p.His291=)
c.2075T=
c.107T=
c.1816T=
c.4210T= (n.4210T=)
c.10593T= (p.His3531=)
n.4522T=
c.10722T= (p.His3574=)
2g.73572597A>CCA347285080ALMS1c.10339A>C (p.Asn3447His)
c.3425A>C
c.7620A>C
c.4786A>C (p.Asn1596His)
c.7665A>C
c.10720A>C (p.Asn3574His)
c.874A>C (p.Asn292His)
c.2076A>C
c.108A>C
c.1817A>C
c.4211A>C (n.4211A>C)
c.10594A>C (p.Asn3532His)
n.4523A>C
c.10723A>C (p.Asn3575His)
2g.73572597A>GCA347285081ALMS1c.10339A>G (p.Asn3447Asp)
c.3425A>G
c.7620A>G
c.4786A>G (p.Asn1596Asp)
c.7665A>G
c.10720A>G (p.Asn3574Asp)
c.874A>G (p.Asn292Asp)
c.2076A>G
c.108A>G
c.1817A>G
c.4211A>G (n.4211A>G)
c.10594A>G (p.Asn3532Asp)
n.4523A>G
c.10723A>G (p.Asn3575Asp)
 gnomAD v4
2g.73572597A>TCA347285084ALMS1c.10339A>T (p.Asn3447Tyr)
c.3425A>T
c.7620A>T
c.4786A>T (p.Asn1596Tyr)
c.7665A>T
c.10720A>T (p.Asn3574Tyr)
c.874A>T (p.Asn292Tyr)
c.2076A>T
c.108A>T
c.1817A>T
c.4211A>T (n.4211A>T)
c.10594A>T (p.Asn3532Tyr)
n.4523A>T
c.10723A>T (p.Asn3575Tyr)
2g.73572598A=CA1261021353ALMS1c.10340A= (p.Asn3447=)
c.3426A=
c.7621A=
c.4787A= (p.Asn1596=)
c.7666A=
c.10721A= (p.Asn3574=)
c.875A= (p.Asn292=)
c.2077A=
c.109A=
c.1818A=
c.4212A= (n.4212A=)
c.10595A= (p.Asn3532=)
n.4524A=
c.10724A= (p.Asn3575=)
2g.73572598A>CCA347285087ALMS1c.10340A>C (p.Asn3447Thr)
c.3426A>C
c.7621A>C
c.4787A>C (p.Asn1596Thr)
c.7666A>C
c.10721A>C (p.Asn3574Thr)
c.875A>C (p.Asn292Thr)
c.2077A>C
c.109A>C
c.1818A>C
c.4212A>C (n.4212A>C)
c.10595A>C (p.Asn3532Thr)
n.4524A>C
c.10724A>C (p.Asn3575Thr)
2g.73572598A>GCA50386387ALMS1c.10340A>G (p.Asn3447Ser)
c.3426A>G
c.7621A>G
c.4787A>G (p.Asn1596Ser)
c.7666A>G
c.10721A>G (p.Asn3574Ser)
c.875A>G (p.Asn292Ser)
c.2077A>G
c.109A>G
c.1818A>G
c.4212A>G (n.4212A>G)
c.10595A>G (p.Asn3532Ser)
n.4524A>G
c.10724A>G (p.Asn3575Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572598A>TCA347285091ALMS1c.10340A>T (p.Asn3447Ile)
c.3426A>T
c.7621A>T
c.4787A>T (p.Asn1596Ile)
c.7666A>T
c.10721A>T (p.Asn3574Ile)
c.875A>T (p.Asn292Ile)
c.2077A>T
c.109A>T
c.1818A>T
c.4212A>T (n.4212A>T)
c.10595A>T (p.Asn3532Ile)
n.4524A>T
c.10724A>T (p.Asn3575Ile)
2g.73572599T>ACA347285095ALMS1c.10341T>A (p.Asn3447Lys)
c.3427T>A
c.7622T>A
c.4788T>A (p.Asn1596Lys)
c.7667T>A
c.10722T>A (p.Asn3574Lys)
c.876T>A (p.Asn292Lys)
c.2078T>A
c.110T>A
c.1819T>A
c.4213T>A (n.4213T>A)
c.10596T>A (p.Asn3532Lys)
n.4525T>A
c.10725T>A (p.Asn3575Lys)
2g.73572599T>CCA427024230ALMS1c.10341T>C (p.Asn3447=)
c.3427T>C
c.7622T>C
c.4788T>C (p.Asn1596=)
c.7667T>C
c.10722T>C (p.Asn3574=)
c.876T>C (p.Asn292=)
c.2078T>C
c.110T>C
c.1819T>C
c.4213T>C (n.4213T>C)
c.10596T>C (p.Asn3532=)
n.4525T>C
c.10725T>C (p.Asn3575=)
2g.73572599T>GCA347285097ALMS1c.10341T>G (p.Asn3447Lys)
c.3427T>G
c.7622T>G
c.4788T>G (p.Asn1596Lys)
c.7667T>G
c.10722T>G (p.Asn3574Lys)
c.876T>G (p.Asn292Lys)
c.2078T>G
c.110T>G
c.1819T>G
c.4213T>G (n.4213T>G)
c.10596T>G (p.Asn3532Lys)
n.4525T>G
c.10725T>G (p.Asn3575Lys)
2g.73572600G>ACA1715047ALMS1c.10342G>A (p.Gly3448Arg)
c.3428G>A
c.7623G>A
c.4789G>A (p.Gly1597Arg)
c.7668G>A
c.10723G>A (p.Gly3575Arg)
c.877G>A (p.Gly293Arg)
c.2079G>A
c.111G>A
c.1820G>A
c.4214G>A (n.4214G>A)
c.10597G>A (p.Gly3533Arg)
n.4526G>A
c.10726G>A (p.Gly3576Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572600G>CCA347285100ALMS1c.10342G>C (p.Gly3448Arg)
c.3428G>C
c.7623G>C
c.4789G>C (p.Gly1597Arg)
c.7668G>C
c.10723G>C (p.Gly3575Arg)
c.877G>C (p.Gly293Arg)
c.2079G>C
c.111G>C
c.1820G>C
c.4214G>C (n.4214G>C)
c.10597G>C (p.Gly3533Arg)
n.4526G>C
c.10726G>C (p.Gly3576Arg)
2g.73572600G=CA1261021362ALMS1c.10342G= (p.Gly3448=)
c.3428G=
c.7623G=
c.4789G= (p.Gly1597=)
c.7668G=
c.10723G= (p.Gly3575=)
c.877G= (p.Gly293=)
c.2079G=
c.111G=
c.1820G=
c.4214G= (n.4214G=)
c.10597G= (p.Gly3533=)
n.4526G=
c.10726G= (p.Gly3576=)
2g.73572600G>TCA347285102ALMS1c.10342G>T (p.Gly3448Ter)
c.3428G>T
c.7623G>T
c.4789G>T (p.Gly1597Ter)
c.7668G>T
c.10723G>T (p.Gly3575Ter)
c.877G>T (p.Gly293Ter)
c.2079G>T
c.111G>T
c.1820G>T
c.4214G>T (n.4214G>T)
c.10597G>T (p.Gly3533Ter)
n.4526G>T
c.10726G>T (p.Gly3576Ter)
2g.73572601G>ACA1715048ALMS1c.10343G>A (p.Gly3448Glu)
c.3429G>A
c.7624G>A
c.4790G>A (p.Gly1597Glu)
c.7669G>A
c.10724G>A (p.Gly3575Glu)
c.878G>A (p.Gly293Glu)
c.2080G>A
c.112G>A
c.1821G>A
c.4215G>A (n.4215G>A)
c.10598G>A (p.Gly3533Glu)
n.4527G>A
c.10727G>A (p.Gly3576Glu)
 dbSNP ExAC gnomAD v4
2g.73572601G>CCA347285112ALMS1c.10343G>C (p.Gly3448Ala)
c.3429G>C
c.7624G>C
c.4790G>C (p.Gly1597Ala)
c.7669G>C
c.10724G>C (p.Gly3575Ala)
c.878G>C (p.Gly293Ala)
c.2080G>C
c.112G>C
c.1821G>C
c.4215G>C (n.4215G>C)
c.10598G>C (p.Gly3533Ala)
n.4527G>C
c.10727G>C (p.Gly3576Ala)
 dbSNP
2g.73572601G=CA1261021370ALMS1c.10343G= (p.Gly3448=)
c.3429G=
c.7624G=
c.4790G= (p.Gly1597=)
c.7669G=
c.10724G= (p.Gly3575=)
c.878G= (p.Gly293=)
c.2080G=
c.112G=
c.1821G=
c.4215G= (n.4215G=)
c.10598G= (p.Gly3533=)
n.4527G=
c.10727G= (p.Gly3576=)
2g.73572601G>TCA347285108ALMS1c.10343G>T (p.Gly3448Val)
c.3429G>T
c.7624G>T
c.4790G>T (p.Gly1597Val)
c.7669G>T
c.10724G>T (p.Gly3575Val)
c.878G>T (p.Gly293Val)
c.2080G>T
c.112G>T
c.1821G>T
c.4215G>T (n.4215G>T)
c.10598G>T (p.Gly3533Val)
n.4527G>T
c.10727G>T (p.Gly3576Val)
2g.73572602A>CCA427024232ALMS1c.10344A>C (p.Gly3448=)
c.3430A>C
c.7625A>C
c.4791A>C (p.Gly1597=)
c.7670A>C
c.10725A>C (p.Gly3575=)
c.879A>C (p.Gly293=)
c.2081A>C
c.113A>C
c.1822A>C
c.4216A>C (n.4216A>C)
c.10599A>C (p.Gly3533=)
n.4528A>C
c.10728A>C (p.Gly3576=)
2g.73572602A>GCA427024233ALMS1c.10344A>G (p.Gly3448=)
c.3430A>G
c.7625A>G
c.4791A>G (p.Gly1597=)
c.7670A>G
c.10725A>G (p.Gly3575=)
c.879A>G (p.Gly293=)
c.2081A>G
c.113A>G
c.1822A>G
c.4216A>G (n.4216A>G)
c.10599A>G (p.Gly3533=)
n.4528A>G
c.10728A>G (p.Gly3576=)
2g.73572602A>TCA427024234ALMS1c.10344A>T (p.Gly3448=)
c.3430A>T
c.7625A>T
c.4791A>T (p.Gly1597=)
c.7670A>T
c.10725A>T (p.Gly3575=)
c.879A>T (p.Gly293=)
c.2081A>T
c.113A>T
c.1822A>T
c.4216A>T (n.4216A>T)
c.10599A>T (p.Gly3533=)
n.4528A>T
c.10728A>T (p.Gly3576=)
2g.73572603C>ACA347285120ALMS1c.10345C>A (p.Gln3449Lys)
c.3431C>A
c.7626C>A
c.4792C>A (p.Gln1598Lys)
c.7671C>A
c.10726C>A (p.Gln3576Lys)
c.880C>A (p.Gln294Lys)
c.2082C>A
c.114C>A
c.1823C>A
c.4217C>A (n.4217C>A)
c.10600C>A (p.Gln3534Lys)
n.4529C>A
c.10729C>A (p.Gln3577Lys)
 gnomAD v4
2g.73572603C=CA1261021375ALMS1c.10345C= (p.Gln3449=)
c.3431C=
c.7626C=
c.4792C= (p.Gln1598=)
c.7671C=
c.10726C= (p.Gln3576=)
c.880C= (p.Gln294=)
c.2082C=
c.114C=
c.1823C=
c.4217C= (n.4217C=)
c.10600C= (p.Gln3534=)
n.4529C=
c.10729C= (p.Gln3577=)
2g.73572603C>GCA347285115ALMS1c.10345C>G (p.Gln3449Glu)
c.3431C>G
c.7626C>G
c.4792C>G (p.Gln1598Glu)
c.7671C>G
c.10726C>G (p.Gln3576Glu)
c.880C>G (p.Gln294Glu)
c.2082C>G
c.114C>G
c.1823C>G
c.4217C>G (n.4217C>G)
c.10600C>G (p.Gln3534Glu)
n.4529C>G
c.10729C>G (p.Gln3577Glu)
 gnomAD v4
2g.73572603C>TCA347285118ALMS1c.10345C>T (p.Gln3449Ter)
c.3431C>T
c.7626C>T
c.4792C>T (p.Gln1598Ter)
c.7671C>T
c.10726C>T (p.Gln3576Ter)
c.880C>T (p.Gln294Ter)
c.2082C>T
c.114C>T
c.1823C>T
c.4217C>T (n.4217C>T)
c.10600C>T (p.Gln3534Ter)
n.4529C>T
c.10729C>T (p.Gln3577Ter)
 dbSNP gnomAD v2
2g.73572604A=CA1261021380ALMS1c.10346A= (p.Gln3449=)
c.3432A=
c.7627A=
c.4793A= (p.Gln1598=)
c.7672A=
c.10727A= (p.Gln3576=)
c.881A= (p.Gln294=)
c.2083A=
c.115A=
c.1824A=
c.4218A= (n.4218A=)
c.10601A= (p.Gln3534=)
n.4530A=
c.10730A= (p.Gln3577=)
2g.73572604A>CCA347285124ALMS1c.10346A>C (p.Gln3449Pro)
c.3432A>C
c.7627A>C
c.4793A>C (p.Gln1598Pro)
c.7672A>C
c.10727A>C (p.Gln3576Pro)
c.881A>C (p.Gln294Pro)
c.2083A>C
c.115A>C
c.1824A>C
c.4218A>C (n.4218A>C)
c.10601A>C (p.Gln3534Pro)
n.4530A>C
c.10730A>C (p.Gln3577Pro)
2g.73572604A>GCA347285125ALMS1c.10346A>G (p.Gln3449Arg)
c.3432A>G
c.7627A>G
c.4793A>G (p.Gln1598Arg)
c.7672A>G
c.10727A>G (p.Gln3576Arg)
c.881A>G (p.Gln294Arg)
c.2083A>G
c.115A>G
c.1824A>G
c.4218A>G (n.4218A>G)
c.10601A>G (p.Gln3534Arg)
n.4530A>G
c.10730A>G (p.Gln3577Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.73572604A>TCA347285127ALMS1c.10346A>T (p.Gln3449Leu)
c.3432A>T
c.7627A>T
c.4793A>T (p.Gln1598Leu)
c.7672A>T
c.10727A>T (p.Gln3576Leu)
c.881A>T (p.Gln294Leu)
c.2083A>T
c.115A>T
c.1824A>T
c.4218A>T (n.4218A>T)
c.10601A>T (p.Gln3534Leu)
n.4530A>T
c.10730A>T (p.Gln3577Leu)

Number of alleles fetched