Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73572810C>ACA347286277ALMS1c.10552C>A (p.Gln3518Lys)
c.3638C>A
c.7833C>A
c.4999C>A (p.Gln1667Lys)
c.7878C>A
c.10933C>A (p.Gln3645Lys)
c.1087C>A (p.Gln363Lys)
c.2289C>A
c.321C>A
c.2030C>A
c.4424C>A (n.4424C>A)
c.10807C>A (p.Gln3603Lys)
n.4736C>A
c.10936C>A (p.Gln3646Lys)
2g.73572810C=CA1261021970ALMS1c.10552C= (p.Gln3518=)
c.3638C=
c.7833C=
c.4999C= (p.Gln1667=)
c.7878C=
c.10933C= (p.Gln3645=)
c.1087C= (p.Gln363=)
c.2289C=
c.321C=
c.2030C=
c.4424C= (n.4424C=)
c.10807C= (p.Gln3603=)
n.4736C=
c.10936C= (p.Gln3646=)
2g.73572810C>GCA347286278ALMS1c.10552C>G (p.Gln3518Glu)
c.3638C>G
c.7833C>G
c.4999C>G (p.Gln1667Glu)
c.7878C>G
c.10933C>G (p.Gln3645Glu)
c.1087C>G (p.Gln363Glu)
c.2289C>G
c.321C>G
c.2030C>G
c.4424C>G (n.4424C>G)
c.10807C>G (p.Gln3603Glu)
n.4736C>G
c.10936C>G (p.Gln3646Glu)
2g.73572810C>TCA347286279ALMS1c.10552C>T (p.Gln3518Ter)
c.3638C>T
c.7833C>T
c.4999C>T (p.Gln1667Ter)
c.7878C>T
c.10933C>T (p.Gln3645Ter)
c.1087C>T (p.Gln363Ter)
c.2289C>T
c.321C>T
c.2030C>T
c.4424C>T (n.4424C>T)
c.10807C>T (p.Gln3603Ter)
n.4736C>T
c.10936C>T (p.Gln3646Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572813_73572819delCA2586964958ALMS1c.10555_10561del (p.Val3519LysfsTer13)
c.3641_3647del
c.7836_7842del
c.5002_5008del (p.Val1668LysfsTer13)
c.7881_7887del
c.10936_10942del (p.Val3646LysfsTer13)
c.1090_1096del (p.Val364LysfsTer13)
c.2292_2298del
c.324_330del
c.2033_2039del
c.4427_4433del (n.4427_4433del)
c.10810_10816del (p.Val3604LysfsTer13)
n.4739_4745del
c.10939_10945del (p.Val3647LysfsTer13)
2g.73572811A>CCA347286281ALMS1c.10553A>C (p.Gln3518Pro)
c.3639A>C
c.7834A>C
c.5000A>C (p.Gln1667Pro)
c.7879A>C
c.10934A>C (p.Gln3645Pro)
c.1088A>C (p.Gln363Pro)
c.2290A>C
c.322A>C
c.2031A>C
c.4425A>C (n.4425A>C)
c.10808A>C (p.Gln3603Pro)
n.4737A>C
c.10937A>C (p.Gln3646Pro)
2g.73572811A>GCA347286282ALMS1c.10553A>G (p.Gln3518Arg)
c.3639A>G
c.7834A>G
c.5000A>G (p.Gln1667Arg)
c.7879A>G
c.10934A>G (p.Gln3645Arg)
c.1088A>G (p.Gln363Arg)
c.2290A>G
c.322A>G
c.2031A>G
c.4425A>G (n.4425A>G)
c.10808A>G (p.Gln3603Arg)
n.4737A>G
c.10937A>G (p.Gln3646Arg)
2g.73572811A>TCA347286283ALMS1c.10553A>T (p.Gln3518Leu)
c.3639A>T
c.7834A>T
c.5000A>T (p.Gln1667Leu)
c.7879A>T
c.10934A>T (p.Gln3645Leu)
c.1088A>T (p.Gln363Leu)
c.2290A>T
c.322A>T
c.2031A>T
c.4425A>T (n.4425A>T)
c.10808A>T (p.Gln3603Leu)
n.4737A>T
c.10937A>T (p.Gln3646Leu)
2g.73572812G>ACA427024129ALMS1c.10554G>A (p.Gln3518=)
c.3640G>A
c.7835G>A
c.5001G>A (p.Gln1667=)
c.7880G>A
c.10935G>A (p.Gln3645=)
c.1089G>A (p.Gln363=)
c.2291G>A
c.323G>A
c.2032G>A
c.4426G>A (n.4426G>A)
c.10809G>A (p.Gln3603=)
n.4738G>A
c.10938G>A (p.Gln3646=)
2g.73572812G>CCA347286286ALMS1c.10554G>C (p.Gln3518His)
c.3640G>C
c.7835G>C
c.5001G>C (p.Gln1667His)
c.7880G>C
c.10935G>C (p.Gln3645His)
c.1089G>C (p.Gln363His)
c.2291G>C
c.323G>C
c.2032G>C
c.4426G>C (n.4426G>C)
c.10809G>C (p.Gln3603His)
n.4738G>C
c.10938G>C (p.Gln3646His)
 gnomAD v4
2g.73572812G>TCA347286288ALMS1c.10554G>T (p.Gln3518His)
c.3640G>T
c.7835G>T
c.5001G>T (p.Gln1667His)
c.7880G>T
c.10935G>T (p.Gln3645His)
c.1089G>T (p.Gln363His)
c.2291G>T
c.323G>T
c.2032G>T
c.4426G>T (n.4426G>T)
c.10809G>T (p.Gln3603His)
n.4738G>T
c.10938G>T (p.Gln3646His)
2g.73572813G>ACA347286297ALMS1c.10555G>A (p.Val3519Ile)
c.3641G>A
c.7836G>A
c.5002G>A (p.Val1668Ile)
c.7881G>A
c.10936G>A (p.Val3646Ile)
c.1090G>A (p.Val364Ile)
c.2292G>A
c.324G>A
c.2033G>A
c.4427G>A (n.4427G>A)
c.10810G>A (p.Val3604Ile)
n.4739G>A
c.10939G>A (p.Val3647Ile)
2g.73572813G>CCA347286295ALMS1c.10555G>C (p.Val3519Leu)
c.3641G>C
c.7836G>C
c.5002G>C (p.Val1668Leu)
c.7881G>C
c.10936G>C (p.Val3646Leu)
c.1090G>C (p.Val364Leu)
c.2292G>C
c.324G>C
c.2033G>C
c.4427G>C (n.4427G>C)
c.10810G>C (p.Val3604Leu)
n.4739G>C
c.10939G>C (p.Val3647Leu)
2g.73572813G>TCA347286292ALMS1c.10555G>T (p.Val3519Phe)
c.3641G>T
c.7836G>T
c.5002G>T (p.Val1668Phe)
c.7881G>T
c.10936G>T (p.Val3646Phe)
c.1090G>T (p.Val364Phe)
c.2292G>T
c.324G>T
c.2033G>T
c.4427G>T (n.4427G>T)
c.10810G>T (p.Val3604Phe)
n.4739G>T
c.10939G>T (p.Val3647Phe)
2g.73572814T>ACA347286302ALMS1c.10556T>A (p.Val3519Asp)
c.3642T>A
c.7837T>A
c.5003T>A (p.Val1668Asp)
c.7882T>A
c.10937T>A (p.Val3646Asp)
c.1091T>A (p.Val364Asp)
c.2293T>A
c.325T>A
c.2034T>A
c.4428T>A (n.4428T>A)
c.10811T>A (p.Val3604Asp)
n.4740T>A
c.10940T>A (p.Val3647Asp)
2g.73572814T>CCA347286307ALMS1c.10556T>C (p.Val3519Ala)
c.3642T>C
c.7837T>C
c.5003T>C (p.Val1668Ala)
c.7882T>C
c.10937T>C (p.Val3646Ala)
c.1091T>C (p.Val364Ala)
c.2293T>C
c.325T>C
c.2034T>C
c.4428T>C (n.4428T>C)
c.10811T>C (p.Val3604Ala)
n.4740T>C
c.10940T>C (p.Val3647Ala)
 gnomAD v4
2g.73572814T>GCA347286305ALMS1c.10556T>G (p.Val3519Gly)
c.3642T>G
c.7837T>G
c.5003T>G (p.Val1668Gly)
c.7882T>G
c.10937T>G (p.Val3646Gly)
c.1091T>G (p.Val364Gly)
c.2293T>G
c.325T>G
c.2034T>G
c.4428T>G (n.4428T>G)
c.10811T>G (p.Val3604Gly)
n.4740T>G
c.10940T>G (p.Val3647Gly)
2g.73572815C>ACA427024141ALMS1c.10557C>A (p.Val3519=)
c.3643C>A
c.7838C>A
c.5004C>A (p.Val1668=)
c.7883C>A
c.10938C>A (p.Val3646=)
c.1092C>A (p.Val364=)
c.2294C>A
c.326C>A
c.2035C>A
c.4429C>A (n.4429C>A)
c.10812C>A (p.Val3604=)
n.4741C>A
c.10941C>A (p.Val3647=)
 dbSNP gnomAD v2
2g.73572815C=CA1261021974ALMS1c.10557C= (p.Val3519=)
c.3643C=
c.7838C=
c.5004C= (p.Val1668=)
c.7883C=
c.10938C= (p.Val3646=)
c.1092C= (p.Val364=)
c.2294C=
c.326C=
c.2035C=
c.4429C= (n.4429C=)
c.10812C= (p.Val3604=)
n.4741C=
c.10941C= (p.Val3647=)
2g.73572815C>GCA427024139ALMS1c.10557C>G (p.Val3519=)
c.3643C>G
c.7838C>G
c.5004C>G (p.Val1668=)
c.7883C>G
c.10938C>G (p.Val3646=)
c.1092C>G (p.Val364=)
c.2294C>G
c.326C>G
c.2035C>G
c.4429C>G (n.4429C>G)
c.10812C>G (p.Val3604=)
n.4741C>G
c.10941C>G (p.Val3647=)
 dbSNP gnomAD v3 gnomAD v4
2g.73572815C>TCA427024136ALMS1c.10557C>T (p.Val3519=)
c.3643C>T
c.7838C>T
c.5004C>T (p.Val1668=)
c.7883C>T
c.10938C>T (p.Val3646=)
c.1092C>T (p.Val364=)
c.2294C>T
c.326C>T
c.2035C>T
c.4429C>T (n.4429C>T)
c.10812C>T (p.Val3604=)
n.4741C>T
c.10941C>T (p.Val3647=)
 ClinVar
2g.73572816T>ACA347286312ALMS1c.10558T>A (p.Ser3520Thr)
c.3644T>A
c.7839T>A
c.5005T>A (p.Ser1669Thr)
c.7884T>A
c.10939T>A (p.Ser3647Thr)
c.1093T>A (p.Ser365Thr)
c.2295T>A
c.327T>A
c.2036T>A
c.4430T>A (n.4430T>A)
c.10813T>A (p.Ser3605Thr)
n.4742T>A
c.10942T>A (p.Ser3648Thr)
2g.73572816T>CCA347286315ALMS1c.10558T>C (p.Ser3520Pro)
c.3644T>C
c.7839T>C
c.5005T>C (p.Ser1669Pro)
c.7884T>C
c.10939T>C (p.Ser3647Pro)
c.1093T>C (p.Ser365Pro)
c.2295T>C
c.327T>C
c.2036T>C
c.4430T>C (n.4430T>C)
c.10813T>C (p.Ser3605Pro)
n.4742T>C
c.10942T>C (p.Ser3648Pro)
2g.73572816T>GCA347286317ALMS1c.10558T>G (p.Ser3520Ala)
c.3644T>G
c.7839T>G
c.5005T>G (p.Ser1669Ala)
c.7884T>G
c.10939T>G (p.Ser3647Ala)
c.1093T>G (p.Ser365Ala)
c.2295T>G
c.327T>G
c.2036T>G
c.4430T>G (n.4430T>G)
c.10813T>G (p.Ser3605Ala)
n.4742T>G
c.10942T>G (p.Ser3648Ala)
2g.73572817C>ACA347286320ALMS1c.10559C>A (p.Ser3520Ter)
c.3645C>A
c.7840C>A
c.5006C>A (p.Ser1669Ter)
c.7885C>A
c.10940C>A (p.Ser3647Ter)
c.1094C>A (p.Ser365Ter)
c.2296C>A
c.328C>A
c.2037C>A
c.4431C>A (n.4431C>A)
c.10814C>A (p.Ser3605Ter)
n.4743C>A
c.10943C>A (p.Ser3648Ter)
2g.73572817C>GCA347286322ALMS1c.10559C>G (p.Ser3520Ter)
c.3645C>G
c.7840C>G
c.5006C>G (p.Ser1669Ter)
c.7885C>G
c.10940C>G (p.Ser3647Ter)
c.1094C>G (p.Ser365Ter)
c.2296C>G
c.328C>G
c.2037C>G
c.4431C>G (n.4431C>G)
c.10814C>G (p.Ser3605Ter)
n.4743C>G
c.10943C>G (p.Ser3648Ter)
2g.73572817C>TCA347286325ALMS1c.10559C>T (p.Ser3520Leu)
c.3645C>T
c.7840C>T
c.5006C>T (p.Ser1669Leu)
c.7885C>T
c.10940C>T (p.Ser3647Leu)
c.1094C>T (p.Ser365Leu)
c.2296C>T
c.328C>T
c.2037C>T
c.4431C>T (n.4431C>T)
c.10814C>T (p.Ser3605Leu)
n.4743C>T
c.10943C>T (p.Ser3648Leu)
2g.73572818A>CCA427024143ALMS1c.10560A>C (p.Ser3520=)
c.3646A>C
c.7841A>C
c.5007A>C (p.Ser1669=)
c.7886A>C
c.10941A>C (p.Ser3647=)
c.1095A>C (p.Ser365=)
c.2297A>C
c.329A>C
c.2038A>C
c.4432A>C (n.4432A>C)
c.10815A>C (p.Ser3605=)
n.4744A>C
c.10944A>C (p.Ser3648=)
2g.73572818A>GCA427024144ALMS1c.10560A>G (p.Ser3520=)
c.3646A>G
c.7841A>G
c.5007A>G (p.Ser1669=)
c.7886A>G
c.10941A>G (p.Ser3647=)
c.1095A>G (p.Ser365=)
c.2297A>G
c.329A>G
c.2038A>G
c.4432A>G (n.4432A>G)
c.10815A>G (p.Ser3605=)
n.4744A>G
c.10944A>G (p.Ser3648=)
2g.73572818A>TCA427024145ALMS1c.10560A>T (p.Ser3520=)
c.3646A>T
c.7841A>T
c.5007A>T (p.Ser1669=)
c.7886A>T
c.10941A>T (p.Ser3647=)
c.1095A>T (p.Ser365=)
c.2297A>T
c.329A>T
c.2038A>T
c.4432A>T (n.4432A>T)
c.10815A>T (p.Ser3605=)
n.4744A>T
c.10944A>T (p.Ser3648=)
2g.73572819G>ACA347286329ALMS1c.10561G>A (p.Glu3521Lys)
c.3647G>A
c.7842G>A
c.5008G>A (p.Glu1670Lys)
c.7887G>A
c.10942G>A (p.Glu3648Lys)
c.1096G>A (p.Glu366Lys)
c.2298G>A
c.330G>A
c.2039G>A
c.4433G>A (n.4433G>A)
c.10816G>A (p.Glu3606Lys)
n.4745G>A
c.10945G>A (p.Glu3649Lys)
 ClinVar dbSNP
2g.73572819G>CCA347286331ALMS1c.10561G>C (p.Glu3521Gln)
c.3647G>C
c.7842G>C
c.5008G>C (p.Glu1670Gln)
c.7887G>C
c.10942G>C (p.Glu3648Gln)
c.1096G>C (p.Glu366Gln)
c.2298G>C
c.330G>C
c.2039G>C
c.4433G>C (n.4433G>C)
c.10816G>C (p.Glu3606Gln)
n.4745G>C
c.10945G>C (p.Glu3649Gln)
2g.73572819G=CA1261021982ALMS1c.10561G= (p.Glu3521=)
c.3647G=
c.7842G=
c.5008G= (p.Glu1670=)
c.7887G=
c.10942G= (p.Glu3648=)
c.1096G= (p.Glu366=)
c.2298G=
c.330G=
c.2039G=
c.4433G= (n.4433G=)
c.10816G= (p.Glu3606=)
n.4745G=
c.10945G= (p.Glu3649=)
2g.73572819G>TCA261212ALMS1c.10561G>T (p.Glu3521Ter)
c.3647G>T
c.7842G>T
c.5008G>T (p.Glu1670Ter)
c.7887G>T
c.10942G>T (p.Glu3648Ter)
c.1096G>T (p.Glu366Ter)
c.2298G>T
c.330G>T
c.2039G>T
c.4433G>T (n.4433G>T)
c.10816G>T (p.Glu3606Ter)
n.4745G>T
c.10945G>T (p.Glu3649Ter)
 ClinVar dbSNP
2g.73572820A>CCA347286337ALMS1c.10562A>C (p.Glu3521Ala)
c.3648A>C
c.7843A>C
c.5009A>C (p.Glu1670Ala)
c.7888A>C
c.10943A>C (p.Glu3648Ala)
c.1097A>C (p.Glu366Ala)
c.2299A>C
c.331A>C
c.2040A>C
c.4434A>C (n.4434A>C)
c.10817A>C (p.Glu3606Ala)
n.4746A>C
c.10946A>C (p.Glu3649Ala)
2g.73572820A>GCA347286340ALMS1c.10562A>G (p.Glu3521Gly)
c.3648A>G
c.7843A>G
c.5009A>G (p.Glu1670Gly)
c.7888A>G
c.10943A>G (p.Glu3648Gly)
c.1097A>G (p.Glu366Gly)
c.2299A>G
c.331A>G
c.2040A>G
c.4434A>G (n.4434A>G)
c.10817A>G (p.Glu3606Gly)
n.4746A>G
c.10946A>G (p.Glu3649Gly)
2g.73572820A>TCA347286342ALMS1c.10562A>T (p.Glu3521Val)
c.3648A>T
c.7843A>T
c.5009A>T (p.Glu1670Val)
c.7888A>T
c.10943A>T (p.Glu3648Val)
c.1097A>T (p.Glu366Val)
c.2299A>T
c.331A>T
c.2040A>T
c.4434A>T (n.4434A>T)
c.10817A>T (p.Glu3606Val)
n.4746A>T
c.10946A>T (p.Glu3649Val)
2g.73572821A>CCA347286349ALMS1c.10563A>C (p.Glu3521Asp)
c.3649A>C
c.7844A>C
c.5010A>C (p.Glu1670Asp)
c.7889A>C
c.10944A>C (p.Glu3648Asp)
c.1098A>C (p.Glu366Asp)
c.2300A>C
c.332A>C
c.2041A>C
c.4435A>C (n.4435A>C)
c.10818A>C (p.Glu3606Asp)
n.4747A>C
c.10947A>C (p.Glu3649Asp)
2g.73572821A>GCA427024150ALMS1c.10563A>G (p.Glu3521=)
c.3649A>G
c.7844A>G
c.5010A>G (p.Glu1670=)
c.7889A>G
c.10944A>G (p.Glu3648=)
c.1098A>G (p.Glu366=)
c.2300A>G
c.332A>G
c.2041A>G
c.4435A>G (n.4435A>G)
c.10818A>G (p.Glu3606=)
n.4747A>G
c.10947A>G (p.Glu3649=)
 ClinVar
2g.73572821A>TCA347286346ALMS1c.10563A>T (p.Glu3521Asp)
c.3649A>T
c.7844A>T
c.5010A>T (p.Glu1670Asp)
c.7889A>T
c.10944A>T (p.Glu3648Asp)
c.1098A>T (p.Glu366Asp)
c.2300A>T
c.332A>T
c.2041A>T
c.4435A>T (n.4435A>T)
c.10818A>T (p.Glu3606Asp)
n.4747A>T
c.10947A>T (p.Glu3649Asp)
2g.73572822A>CCA347286352ALMS1c.10564A>C (p.Ser3522Arg)
c.3650A>C
c.7845A>C
c.5011A>C (p.Ser1671Arg)
c.7890A>C
c.10945A>C (p.Ser3649Arg)
c.1099A>C (p.Ser367Arg)
c.2301A>C
c.333A>C
c.2042A>C
c.4436A>C (n.4436A>C)
c.10819A>C (p.Ser3607Arg)
n.4748A>C
c.10948A>C (p.Ser3650Arg)
2g.73572822A>GCA347286354ALMS1c.10564A>G (p.Ser3522Gly)
c.3650A>G
c.7845A>G
c.5011A>G (p.Ser1671Gly)
c.7890A>G
c.10945A>G (p.Ser3649Gly)
c.1099A>G (p.Ser367Gly)
c.2301A>G
c.333A>G
c.2042A>G
c.4436A>G (n.4436A>G)
c.10819A>G (p.Ser3607Gly)
n.4748A>G
c.10948A>G (p.Ser3650Gly)
2g.73572822A>TCA347286357ALMS1c.10564A>T (p.Ser3522Cys)
c.3650A>T
c.7845A>T
c.5011A>T (p.Ser1671Cys)
c.7890A>T
c.10945A>T (p.Ser3649Cys)
c.1099A>T (p.Ser367Cys)
c.2301A>T
c.333A>T
c.2042A>T
c.4436A>T (n.4436A>T)
c.10819A>T (p.Ser3607Cys)
n.4748A>T
c.10948A>T (p.Ser3650Cys)
2g.73572823G>ACA347286361ALMS1c.10565G>A (p.Ser3522Asn)
c.3651G>A
c.7846G>A
c.5012G>A (p.Ser1671Asn)
c.7891G>A
c.10946G>A (p.Ser3649Asn)
c.1100G>A (p.Ser367Asn)
c.2302G>A
c.334G>A
c.2043G>A
c.4437G>A (n.4437G>A)
c.10820G>A (p.Ser3607Asn)
n.4749G>A
c.10949G>A (p.Ser3650Asn)
 ClinVar dbSNP
2g.73572823G>CCA347286364ALMS1c.10565G>C (p.Ser3522Thr)
c.3651G>C
c.7846G>C
c.5012G>C (p.Ser1671Thr)
c.7891G>C
c.10946G>C (p.Ser3649Thr)
c.1100G>C (p.Ser367Thr)
c.2302G>C
c.334G>C
c.2043G>C
c.4437G>C (n.4437G>C)
c.10820G>C (p.Ser3607Thr)
n.4749G>C
c.10949G>C (p.Ser3650Thr)
2g.73572823G>TCA347286368ALMS1c.10565G>T (p.Ser3522Ile)
c.3651G>T
c.7846G>T
c.5012G>T (p.Ser1671Ile)
c.7891G>T
c.10946G>T (p.Ser3649Ile)
c.1100G>T (p.Ser367Ile)
c.2302G>T
c.334G>T
c.2043G>T
c.4437G>T (n.4437G>T)
c.10820G>T (p.Ser3607Ile)
n.4749G>T
c.10949G>T (p.Ser3650Ile)
2g.73572824T>ACA347286372ALMS1c.10566T>A (p.Ser3522Arg)
c.3652T>A
c.7847T>A
c.5013T>A (p.Ser1671Arg)
c.7892T>A
c.10947T>A (p.Ser3649Arg)
c.1101T>A (p.Ser367Arg)
c.2303T>A
c.335T>A
c.2044T>A
c.4438T>A (n.4438T>A)
c.10821T>A (p.Ser3607Arg)
n.4750T>A
c.10950T>A (p.Ser3650Arg)
2g.73572824T>CCA1715091ALMS1c.10566T>C (p.Ser3522=)
c.3652T>C
c.7847T>C
c.5013T>C (p.Ser1671=)
c.7892T>C
c.10947T>C (p.Ser3649=)
c.1101T>C (p.Ser367=)
c.2303T>C
c.335T>C
c.2044T>C
c.4438T>C (n.4438T>C)
c.10821T>C (p.Ser3607=)
n.4750T>C
c.10950T>C (p.Ser3650=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572824T>GCA347286377ALMS1c.10566T>G (p.Ser3522Arg)
c.3652T>G
c.7847T>G
c.5013T>G (p.Ser1671Arg)
c.7892T>G
c.10947T>G (p.Ser3649Arg)
c.1101T>G (p.Ser367Arg)
c.2303T>G
c.335T>G
c.2044T>G
c.4438T>G (n.4438T>G)
c.10821T>G (p.Ser3607Arg)
n.4750T>G
c.10950T>G (p.Ser3650Arg)
2g.73572824T=CA1261021987ALMS1c.10566T= (p.Ser3522=)
c.3652T=
c.7847T=
c.5013T= (p.Ser1671=)
c.7892T=
c.10947T= (p.Ser3649=)
c.1101T= (p.Ser367=)
c.2303T=
c.335T=
c.2044T=
c.4438T= (n.4438T=)
c.10821T= (p.Ser3607=)
n.4750T=
c.10950T= (p.Ser3650=)
2g.73572824_73572826delinsTACCA1261021988ALMS1c.10566_10568delinsTAC (p.Ser3522=)
c.3652_3654delinsTAC
c.7847_7849delinsTAC
c.5013_5015delinsTAC (p.Ser1671=)
c.7892_7894delinsTAC
c.10947_10949delinsTAC (p.Ser3649=)
c.1101_1103delinsTAC (p.Ser367=)
c.2303_2305delinsTAC
c.335_337delinsTAC
c.2044_2046delinsTAC
c.4438_4440delinsTAC (n.4438_4440delinsTAC)
c.10821_10823delinsTAC (p.Ser3607=)
n.4750_4752delinsTAC
c.10950_10952delinsTAC (p.Ser3650=)
2g.73572825A>CCA347286381ALMS1c.10567A>C (p.Thr3523Pro)
c.3653A>C
c.7848A>C
c.5014A>C (p.Thr1672Pro)
c.7893A>C
c.10948A>C (p.Thr3650Pro)
c.1102A>C (p.Thr368Pro)
c.2304A>C
c.336A>C
c.2045A>C
c.4439A>C (n.4439A>C)
c.10822A>C (p.Thr3608Pro)
n.4751A>C
c.10951A>C (p.Thr3651Pro)
2g.73572825A>GCA347286383ALMS1c.10567A>G (p.Thr3523Ala)
c.3653A>G
c.7848A>G
c.5014A>G (p.Thr1672Ala)
c.7893A>G
c.10948A>G (p.Thr3650Ala)
c.1102A>G (p.Thr368Ala)
c.2304A>G
c.336A>G
c.2045A>G
c.4439A>G (n.4439A>G)
c.10822A>G (p.Thr3608Ala)
n.4751A>G
c.10951A>G (p.Thr3651Ala)
 gnomAD v4
2g.73572825A>TCA347286386ALMS1c.10567A>T (p.Thr3523Ser)
c.3653A>T
c.7848A>T
c.5014A>T (p.Thr1672Ser)
c.7893A>T
c.10948A>T (p.Thr3650Ser)
c.1102A>T (p.Thr368Ser)
c.2304A>T
c.336A>T
c.2045A>T
c.4439A>T (n.4439A>T)
c.10822A>T (p.Thr3608Ser)
n.4751A>T
c.10951A>T (p.Thr3651Ser)
2g.73572828_73572829delCA534123608ALMS1c.10570_10571del (p.His3524Ter)
c.3656_3657del
c.7851_7852del
c.5017_5018del (p.His1673Ter)
c.7896_7897del
c.10951_10952del (p.His3651Ter)
c.1105_1106del (p.His369Ter)
c.2307_2308del
c.339_340del
c.2048_2049del
c.4442_4443del (n.4442_4443del)
c.10825_10826del (p.His3609Ter)
n.4754_4755del
c.10954_10955del (p.His3652Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572826C>ACA347286397ALMS1c.10568C>A (p.Thr3523Lys)
c.3654C>A
c.7849C>A
c.5015C>A (p.Thr1672Lys)
c.7894C>A
c.10949C>A (p.Thr3650Lys)
c.1103C>A (p.Thr368Lys)
c.2305C>A
c.337C>A
c.2046C>A
c.4440C>A (n.4440C>A)
c.10823C>A (p.Thr3608Lys)
n.4752C>A
c.10952C>A (p.Thr3651Lys)
2g.73572826C>GCA347286394ALMS1c.10568C>G (p.Thr3523Arg)
c.3654C>G
c.7849C>G
c.5015C>G (p.Thr1672Arg)
c.7894C>G
c.10949C>G (p.Thr3650Arg)
c.1103C>G (p.Thr368Arg)
c.2305C>G
c.337C>G
c.2046C>G
c.4440C>G (n.4440C>G)
c.10823C>G (p.Thr3608Arg)
n.4752C>G
c.10952C>G (p.Thr3651Arg)
2g.73572826C>TCA347286391ALMS1c.10568C>T (p.Thr3523Ile)
c.3654C>T
c.7849C>T
c.5015C>T (p.Thr1672Ile)
c.7894C>T
c.10949C>T (p.Thr3650Ile)
c.1103C>T (p.Thr368Ile)
c.2305C>T
c.337C>T
c.2046C>T
c.4440C>T (n.4440C>T)
c.10823C>T (p.Thr3608Ile)
n.4752C>T
c.10952C>T (p.Thr3651Ile)
2g.73572827A=CA1261021994ALMS1c.10569A= (p.Thr3523=)
c.3655A=
c.7850A=
c.5016A= (p.Thr1672=)
c.7895A=
c.10950A= (p.Thr3650=)
c.1104A= (p.Thr368=)
c.2306A=
c.338A=
c.2047A=
c.4441A= (n.4441A=)
c.10824A= (p.Thr3608=)
n.4753A=
c.10953A= (p.Thr3651=)
2g.73572827A>CCA427024156ALMS1c.10569A>C (p.Thr3523=)
c.3655A>C
c.7850A>C
c.5016A>C (p.Thr1672=)
c.7895A>C
c.10950A>C (p.Thr3650=)
c.1104A>C (p.Thr368=)
c.2306A>C
c.338A>C
c.2047A>C
c.4441A>C (n.4441A>C)
c.10824A>C (p.Thr3608=)
n.4753A>C
c.10953A>C (p.Thr3651=)
2g.73572827A>GCA427024158ALMS1c.10569A>G (p.Thr3523=)
c.3655A>G
c.7850A>G
c.5016A>G (p.Thr1672=)
c.7895A>G
c.10950A>G (p.Thr3650=)
c.1104A>G (p.Thr368=)
c.2306A>G
c.338A>G
c.2047A>G
c.4441A>G (n.4441A>G)
c.10824A>G (p.Thr3608=)
n.4753A>G
c.10953A>G (p.Thr3651=)
 ClinVar dbSNP gnomAD v4
2g.73572827A>TCA427024157ALMS1c.10569A>T (p.Thr3523=)
c.3655A>T
c.7850A>T
c.5016A>T (p.Thr1672=)
c.7895A>T
c.10950A>T (p.Thr3650=)
c.1104A>T (p.Thr368=)
c.2306A>T
c.338A>T
c.2047A>T
c.4441A>T (n.4441A>T)
c.10824A>T (p.Thr3608=)
n.4753A>T
c.10953A>T (p.Thr3651=)
2g.73572828C>ACA347286401ALMS1c.10570C>A (p.His3524Asn)
c.3656C>A
c.7851C>A
c.5017C>A (p.His1673Asn)
c.7896C>A
c.10951C>A (p.His3651Asn)
c.1105C>A (p.His369Asn)
c.2307C>A
c.339C>A
c.2048C>A
c.4442C>A (n.4442C>A)
c.10825C>A (p.His3609Asn)
n.4754C>A
c.10954C>A (p.His3652Asn)
2g.73572828C=CA1261021996ALMS1c.10570C= (p.His3524=)
c.3656C=
c.7851C=
c.5017C= (p.His1673=)
c.7896C=
c.10951C= (p.His3651=)
c.1105C= (p.His369=)
c.2307C=
c.339C=
c.2048C=
c.4442C= (n.4442C=)
c.10825C= (p.His3609=)
n.4754C=
c.10954C= (p.His3652=)
2g.73572828C>GCA347286403ALMS1c.10570C>G (p.His3524Asp)
c.3656C>G
c.7851C>G
c.5017C>G (p.His1673Asp)
c.7896C>G
c.10951C>G (p.His3651Asp)
c.1105C>G (p.His369Asp)
c.2307C>G
c.339C>G
c.2048C>G
c.4442C>G (n.4442C>G)
c.10825C>G (p.His3609Asp)
n.4754C>G
c.10954C>G (p.His3652Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.73572828C>TCA1715092ALMS1c.10570C>T (p.His3524Tyr)
c.3656C>T
c.7851C>T
c.5017C>T (p.His1673Tyr)
c.7896C>T
c.10951C>T (p.His3651Tyr)
c.1105C>T (p.His369Tyr)
c.2307C>T
c.339C>T
c.2048C>T
c.4442C>T (n.4442C>T)
c.10825C>T (p.His3609Tyr)
n.4754C>T
c.10954C>T (p.His3652Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572829A=CA1261021998ALMS1c.10571A= (p.His3524=)
c.3657A=
c.7852A=
c.5018A= (p.His1673=)
c.7897A=
c.10952A= (p.His3651=)
c.1106A= (p.His369=)
c.2308A=
c.340A=
c.2049A=
c.4443A= (n.4443A=)
c.10826A= (p.His3609=)
n.4755A=
c.10955A= (p.His3652=)
2g.73572829A>CCA347286409ALMS1c.10571A>C (p.His3524Pro)
c.3657A>C
c.7852A>C
c.5018A>C (p.His1673Pro)
c.7897A>C
c.10952A>C (p.His3651Pro)
c.1106A>C (p.His369Pro)
c.2308A>C
c.340A>C
c.2049A>C
c.4443A>C (n.4443A>C)
c.10826A>C (p.His3609Pro)
n.4755A>C
c.10955A>C (p.His3652Pro)
2g.73572829A>GCA347286412ALMS1c.10571A>G (p.His3524Arg)
c.3657A>G
c.7852A>G
c.5018A>G (p.His1673Arg)
c.7897A>G
c.10952A>G (p.His3651Arg)
c.1106A>G (p.His369Arg)
c.2308A>G
c.340A>G
c.2049A>G
c.4443A>G (n.4443A>G)
c.10826A>G (p.His3609Arg)
n.4755A>G
c.10955A>G (p.His3652Arg)
 ClinVar dbSNP
2g.73572829A>TCA347286415ALMS1c.10571A>T (p.His3524Leu)
c.3657A>T
c.7852A>T
c.5018A>T (p.His1673Leu)
c.7897A>T
c.10952A>T (p.His3651Leu)
c.1106A>T (p.His369Leu)
c.2308A>T
c.340A>T
c.2049A>T
c.4443A>T (n.4443A>T)
c.10826A>T (p.His3609Leu)
n.4755A>T
c.10955A>T (p.His3652Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572829_73572830delCA2750467829ALMS1c.10571_10572del (p.His3524ArgfsTer2)
c.3657_3658del
c.7852_7853del
c.5018_5019del (p.His1673ArgfsTer2)
c.7897_7898del
c.10952_10953del (p.His3651ArgfsTer2)
c.1106_1107del (p.His369ArgfsTer2)
c.2308_2309del
c.340_341del
c.2049_2050del
c.4443_4444del (n.4443_4444del)
c.10826_10827del (p.His3609ArgfsTer2)
n.4755_4756del
c.10955_10956del (p.His3652ArgfsTer2)
2g.73572834_73572836delCA2659617248ALMS1c.10576_10578del (p.Asp3526del)
c.3662_3664del
c.7857_7859del
c.5023_5025del (p.Asp1675del)
c.7902_7904del
c.10957_10959del (p.Asp3653del)
c.1111_1113del (p.Asp371del)
c.2313_2315del
c.345_347del
c.2054_2056del
c.4448_4450del (n.4448_4450del)
c.10831_10833del (p.Asp3611del)
n.4760_4762del
c.10960_10962del (p.Asp3654del)
 gnomAD v4
2g.73572830T>ACA347286417ALMS1c.10572T>A (p.His3524Gln)
c.3658T>A
c.7853T>A
c.5019T>A (p.His1673Gln)
c.7898T>A
c.10953T>A (p.His3651Gln)
c.1107T>A (p.His369Gln)
c.2309T>A
c.341T>A
c.2050T>A
c.4444T>A (n.4444T>A)
c.10827T>A (p.His3609Gln)
n.4756T>A
c.10956T>A (p.His3652Gln)
 gnomAD v4
2g.73572830T>CCA427024166ALMS1c.10572T>C (p.His3524=)
c.3658T>C
c.7853T>C
c.5019T>C (p.His1673=)
c.7898T>C
c.10953T>C (p.His3651=)
c.1107T>C (p.His369=)
c.2309T>C
c.341T>C
c.2050T>C
c.4444T>C (n.4444T>C)
c.10827T>C (p.His3609=)
n.4756T>C
c.10956T>C (p.His3652=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572830T>GCA347286420ALMS1c.10572T>G (p.His3524Gln)
c.3658T>G
c.7853T>G
c.5019T>G (p.His1673Gln)
c.7898T>G
c.10953T>G (p.His3651Gln)
c.1107T>G (p.His369Gln)
c.2309T>G
c.341T>G
c.2050T>G
c.4444T>G (n.4444T>G)
c.10827T>G (p.His3609Gln)
n.4756T>G
c.10956T>G (p.His3652Gln)
2g.73572830T=CA1261022001ALMS1c.10572T= (p.His3524=)
c.3658T=
c.7853T=
c.5019T= (p.His1673=)
c.7898T=
c.10953T= (p.His3651=)
c.1107T= (p.His369=)
c.2309T=
c.341T=
c.2050T=
c.4444T= (n.4444T=)
c.10827T= (p.His3609=)
n.4756T=
c.10956T= (p.His3652=)
2g.73572831G>ACA347286424ALMS1c.10573G>A (p.Asp3525Asn)
c.3659G>A
c.7854G>A
c.5020G>A (p.Asp1674Asn)
c.7899G>A
c.10954G>A (p.Asp3652Asn)
c.1108G>A (p.Asp370Asn)
c.2310G>A
c.342G>A
c.2051G>A
c.4445G>A (n.4445G>A)
c.10828G>A (p.Asp3610Asn)
n.4757G>A
c.10957G>A (p.Asp3653Asn)
 gnomAD v4
2g.73572831G>CCA347286427ALMS1c.10573G>C (p.Asp3525His)
c.3659G>C
c.7854G>C
c.5020G>C (p.Asp1674His)
c.7899G>C
c.10954G>C (p.Asp3652His)
c.1108G>C (p.Asp370His)
c.2310G>C
c.342G>C
c.2051G>C
c.4445G>C (n.4445G>C)
c.10828G>C (p.Asp3610His)
n.4757G>C
c.10957G>C (p.Asp3653His)
2g.73572831G>TCA347286429ALMS1c.10573G>T (p.Asp3525Tyr)
c.3659G>T
c.7854G>T
c.5020G>T (p.Asp1674Tyr)
c.7899G>T
c.10954G>T (p.Asp3652Tyr)
c.1108G>T (p.Asp370Tyr)
c.2310G>T
c.342G>T
c.2051G>T
c.4445G>T (n.4445G>T)
c.10828G>T (p.Asp3610Tyr)
n.4757G>T
c.10957G>T (p.Asp3653Tyr)
2g.73572832A=CA1261022004ALMS1c.10574A= (p.Asp3525=)
c.3660A=
c.7855A=
c.5021A= (p.Asp1674=)
c.7900A=
c.10955A= (p.Asp3652=)
c.1109A= (p.Asp370=)
c.2311A=
c.343A=
c.2052A=
c.4446A= (n.4446A=)
c.10829A= (p.Asp3610=)
n.4758A=
c.10958A= (p.Asp3653=)
2g.73572832A>CCA347286434ALMS1c.10574A>C (p.Asp3525Ala)
c.3660A>C
c.7855A>C
c.5021A>C (p.Asp1674Ala)
c.7900A>C
c.10955A>C (p.Asp3652Ala)
c.1109A>C (p.Asp370Ala)
c.2311A>C
c.343A>C
c.2052A>C
c.4446A>C (n.4446A>C)
c.10829A>C (p.Asp3610Ala)
n.4758A>C
c.10958A>C (p.Asp3653Ala)
2g.73572832A>GCA347286437ALMS1c.10574A>G (p.Asp3525Gly)
c.3660A>G
c.7855A>G
c.5021A>G (p.Asp1674Gly)
c.7900A>G
c.10955A>G (p.Asp3652Gly)
c.1109A>G (p.Asp370Gly)
c.2311A>G
c.343A>G
c.2052A>G
c.4446A>G (n.4446A>G)
c.10829A>G (p.Asp3610Gly)
n.4758A>G
c.10958A>G (p.Asp3653Gly)
 gnomAD v4
2g.73572832A>TCA1715093ALMS1c.10574A>T (p.Asp3525Val)
c.3660A>T
c.7855A>T
c.5021A>T (p.Asp1674Val)
c.7900A>T
c.10955A>T (p.Asp3652Val)
c.1109A>T (p.Asp370Val)
c.2311A>T
c.343A>T
c.2052A>T
c.4446A>T (n.4446A>T)
c.10829A>T (p.Asp3610Val)
n.4758A>T
c.10958A>T (p.Asp3653Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572833T>ACA347286441ALMS1c.10575T>A (p.Asp3525Glu)
c.3661T>A
c.7856T>A
c.5022T>A (p.Asp1674Glu)
c.7901T>A
c.10956T>A (p.Asp3652Glu)
c.1110T>A (p.Asp370Glu)
c.2312T>A
c.344T>A
c.2053T>A
c.4447T>A (n.4447T>A)
c.10830T>A (p.Asp3610Glu)
n.4759T>A
c.10959T>A (p.Asp3653Glu)
2g.73572833T>CCA427024174ALMS1c.10575T>C (p.Asp3525=)
c.3661T>C
c.7856T>C
c.5022T>C (p.Asp1674=)
c.7901T>C
c.10956T>C (p.Asp3652=)
c.1110T>C (p.Asp370=)
c.2312T>C
c.344T>C
c.2053T>C
c.4447T>C (n.4447T>C)
c.10830T>C (p.Asp3610=)
n.4759T>C
c.10959T>C (p.Asp3653=)
2g.73572833T>GCA347286445ALMS1c.10575T>G (p.Asp3525Glu)
c.3661T>G
c.7856T>G
c.5022T>G (p.Asp1674Glu)
c.7901T>G
c.10956T>G (p.Asp3652Glu)
c.1110T>G (p.Asp370Glu)
c.2312T>G
c.344T>G
c.2053T>G
c.4447T>G (n.4447T>G)
c.10830T>G (p.Asp3610Glu)
n.4759T>G
c.10959T>G (p.Asp3653Glu)
2g.73572834G>ACA347286449ALMS1c.10576G>A (p.Asp3526Asn)
c.3662G>A
c.7857G>A
c.5023G>A (p.Asp1675Asn)
c.7902G>A
c.10957G>A (p.Asp3653Asn)
c.1111G>A (p.Asp371Asn)
c.2313G>A
c.345G>A
c.2054G>A
c.4448G>A (n.4448G>A)
c.10831G>A (p.Asp3611Asn)
n.4760G>A
c.10960G>A (p.Asp3654Asn)
 dbSNP gnomAD v2
2g.73572834G>CCA347286451ALMS1c.10576G>C (p.Asp3526His)
c.3662G>C
c.7857G>C
c.5023G>C (p.Asp1675His)
c.7902G>C
c.10957G>C (p.Asp3653His)
c.1111G>C (p.Asp371His)
c.2313G>C
c.345G>C
c.2054G>C
c.4448G>C (n.4448G>C)
c.10831G>C (p.Asp3611His)
n.4760G>C
c.10960G>C (p.Asp3654His)
2g.73572834G=CA1261022006ALMS1c.10576G= (p.Asp3526=)
c.3662G=
c.7857G=
c.5023G= (p.Asp1675=)
c.7902G=
c.10957G= (p.Asp3653=)
c.1111G= (p.Asp371=)
c.2313G=
c.345G=
c.2054G=
c.4448G= (n.4448G=)
c.10831G= (p.Asp3611=)
n.4760G=
c.10960G= (p.Asp3654=)
2g.73572834G>TCA347286454ALMS1c.10576G>T (p.Asp3526Tyr)
c.3662G>T
c.7857G>T
c.5023G>T (p.Asp1675Tyr)
c.7902G>T
c.10957G>T (p.Asp3653Tyr)
c.1111G>T (p.Asp371Tyr)
c.2313G>T
c.345G>T
c.2054G>T
c.4448G>T (n.4448G>T)
c.10831G>T (p.Asp3611Tyr)
n.4760G>T
c.10960G>T (p.Asp3654Tyr)
 ClinVar
2g.73572835A>CCA347286459ALMS1c.10577A>C (p.Asp3526Ala)
c.3663A>C
c.7858A>C
c.5024A>C (p.Asp1675Ala)
c.7903A>C
c.10958A>C (p.Asp3653Ala)
c.1112A>C (p.Asp371Ala)
c.2314A>C
c.346A>C
c.2055A>C
c.4449A>C (n.4449A>C)
c.10832A>C (p.Asp3611Ala)
n.4761A>C
c.10961A>C (p.Asp3654Ala)
2g.73572835A>GCA347286466ALMS1c.10577A>G (p.Asp3526Gly)
c.3663A>G
c.7858A>G
c.5024A>G (p.Asp1675Gly)
c.7903A>G
c.10958A>G (p.Asp3653Gly)
c.1112A>G (p.Asp371Gly)
c.2314A>G
c.346A>G
c.2055A>G
c.4449A>G (n.4449A>G)
c.10832A>G (p.Asp3611Gly)
n.4761A>G
c.10961A>G (p.Asp3654Gly)
 ClinVar gnomAD v4
2g.73572835A>TCA347286469ALMS1c.10577A>T (p.Asp3526Val)
c.3663A>T
c.7858A>T
c.5024A>T (p.Asp1675Val)
c.7903A>T
c.10958A>T (p.Asp3653Val)
c.1112A>T (p.Asp371Val)
c.2314A>T
c.346A>T
c.2055A>T
c.4449A>T (n.4449A>T)
c.10832A>T (p.Asp3611Val)
n.4761A>T
c.10961A>T (p.Asp3654Val)
2g.73572836T>ACA347286473ALMS1c.10578T>A (p.Asp3526Glu)
c.3664T>A
c.7859T>A
c.5025T>A (p.Asp1675Glu)
c.7904T>A
c.10959T>A (p.Asp3653Glu)
c.1113T>A (p.Asp371Glu)
c.2315T>A
c.347T>A
c.2056T>A
c.4450T>A (n.4450T>A)
c.10833T>A (p.Asp3611Glu)
n.4762T>A
c.10962T>A (p.Asp3654Glu)
2g.73572836T>CCA427024176ALMS1c.10578T>C (p.Asp3526=)
c.3664T>C
c.7859T>C
c.5025T>C (p.Asp1675=)
c.7904T>C
c.10959T>C (p.Asp3653=)
c.1113T>C (p.Asp371=)
c.2315T>C
c.347T>C
c.2056T>C
c.4450T>C (n.4450T>C)
c.10833T>C (p.Asp3611=)
n.4762T>C
c.10962T>C (p.Asp3654=)
 gnomAD v4
2g.73572836T>GCA347286475ALMS1c.10578T>G (p.Asp3526Glu)
c.3664T>G
c.7859T>G
c.5025T>G (p.Asp1675Glu)
c.7904T>G
c.10959T>G (p.Asp3653Glu)
c.1113T>G (p.Asp371Glu)
c.2315T>G
c.347T>G
c.2056T>G
c.4450T>G (n.4450T>G)
c.10833T>G (p.Asp3611Glu)
n.4762T>G
c.10962T>G (p.Asp3654Glu)
2g.73572837A>CCA347286479ALMS1c.10579A>C (p.Ser3527Arg)
c.3665A>C
c.7860A>C
c.5026A>C (p.Ser1676Arg)
c.7905A>C
c.10960A>C (p.Ser3654Arg)
c.1114A>C (p.Ser372Arg)
c.2316A>C
c.348A>C
c.2057A>C
c.4451A>C (n.4451A>C)
c.10834A>C (p.Ser3612Arg)
n.4763A>C
c.10963A>C (p.Ser3655Arg)
2g.73572837A>GCA347286482ALMS1c.10579A>G (p.Ser3527Gly)
c.3665A>G
c.7860A>G
c.5026A>G (p.Ser1676Gly)
c.7905A>G
c.10960A>G (p.Ser3654Gly)
c.1114A>G (p.Ser372Gly)
c.2316A>G
c.348A>G
c.2057A>G
c.4451A>G (n.4451A>G)
c.10834A>G (p.Ser3612Gly)
n.4763A>G
c.10963A>G (p.Ser3655Gly)
2g.73572837A>TCA347286485ALMS1c.10579A>T (p.Ser3527Cys)
c.3665A>T
c.7860A>T
c.5026A>T (p.Ser1676Cys)
c.7905A>T
c.10960A>T (p.Ser3654Cys)
c.1114A>T (p.Ser372Cys)
c.2316A>T
c.348A>T
c.2057A>T
c.4451A>T (n.4451A>T)
c.10834A>T (p.Ser3612Cys)
n.4763A>T
c.10963A>T (p.Ser3655Cys)
2g.73572838G>ACA347286489ALMS1c.10580G>A (p.Ser3527Asn)
c.3666G>A
c.7861G>A
c.5027G>A (p.Ser1676Asn)
c.7906G>A
c.10961G>A (p.Ser3654Asn)
c.1115G>A (p.Ser372Asn)
c.2317G>A
c.349G>A
c.2058G>A
c.4452G>A (n.4452G>A)
c.10835G>A (p.Ser3612Asn)
n.4764G>A
c.10964G>A (p.Ser3655Asn)
 dbSNP gnomAD v2
2g.73572838G>CCA347286495ALMS1c.10580G>C (p.Ser3527Thr)
c.3666G>C
c.7861G>C
c.5027G>C (p.Ser1676Thr)
c.7906G>C
c.10961G>C (p.Ser3654Thr)
c.1115G>C (p.Ser372Thr)
c.2317G>C
c.349G>C
c.2058G>C
c.4452G>C (n.4452G>C)
c.10835G>C (p.Ser3612Thr)
n.4764G>C
c.10964G>C (p.Ser3655Thr)
2g.73572838G=CA1261022008ALMS1c.10580G= (p.Ser3527=)
c.3666G=
c.7861G=
c.5027G= (p.Ser1676=)
c.7906G=
c.10961G= (p.Ser3654=)
c.1115G= (p.Ser372=)
c.2317G=
c.349G=
c.2058G=
c.4452G= (n.4452G=)
c.10835G= (p.Ser3612=)
n.4764G=
c.10964G= (p.Ser3655=)
2g.73572838G>TCA347286493ALMS1c.10580G>T (p.Ser3527Ile)
c.3666G>T
c.7861G>T
c.5027G>T (p.Ser1676Ile)
c.7906G>T
c.10961G>T (p.Ser3654Ile)
c.1115G>T (p.Ser372Ile)
c.2317G>T
c.349G>T
c.2058G>T
c.4452G>T (n.4452G>T)
c.10835G>T (p.Ser3612Ile)
n.4764G>T
c.10964G>T (p.Ser3655Ile)
2g.73572839C>ACA347286499ALMS1c.10581C>A (p.Ser3527Arg)
c.3667C>A
c.7862C>A
c.5028C>A (p.Ser1676Arg)
c.7907C>A
c.10962C>A (p.Ser3654Arg)
c.1116C>A (p.Ser372Arg)
c.2318C>A
c.350C>A
c.2059C>A
c.4453C>A (n.4453C>A)
c.10836C>A (p.Ser3612Arg)
n.4765C>A
c.10965C>A (p.Ser3655Arg)
2g.73572839C=CA1261022010ALMS1c.10581C= (p.Ser3527=)
c.3667C=
c.7862C=
c.5028C= (p.Ser1676=)
c.7907C=
c.10962C= (p.Ser3654=)
c.1116C= (p.Ser372=)
c.2318C=
c.350C=
c.2059C=
c.4453C= (n.4453C=)
c.10836C= (p.Ser3612=)
n.4765C=
c.10965C= (p.Ser3655=)
2g.73572839C>GCA347286501ALMS1c.10581C>G (p.Ser3527Arg)
c.3667C>G
c.7862C>G
c.5028C>G (p.Ser1676Arg)
c.7907C>G
c.10962C>G (p.Ser3654Arg)
c.1116C>G (p.Ser372Arg)
c.2318C>G
c.350C>G
c.2059C>G
c.4453C>G (n.4453C>G)
c.10836C>G (p.Ser3612Arg)
n.4765C>G
c.10965C>G (p.Ser3655Arg)
2g.73572839C>TCA427024182ALMS1c.10581C>T (p.Ser3527=)
c.3667C>T
c.7862C>T
c.5028C>T (p.Ser1676=)
c.7907C>T
c.10962C>T (p.Ser3654=)
c.1116C>T (p.Ser372=)
c.2318C>T
c.350C>T
c.2059C>T
c.4453C>T (n.4453C>T)
c.10836C>T (p.Ser3612=)
n.4765C>T
c.10965C>T (p.Ser3655=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572840A>CCA427024183ALMS1c.10582A>C (p.Arg3528=)
c.3668A>C
c.7863A>C
c.5029A>C (p.Arg1677=)
c.7908A>C
c.10963A>C (p.Arg3655=)
c.1117A>C (p.Arg373=)
c.2319A>C
c.351A>C
c.2060A>C
c.4454A>C (n.4454A>C)
c.10837A>C (p.Arg3613=)
n.4766A>C
c.10966A>C (p.Arg3656=)
2g.73572840A>GCA347286506ALMS1c.10582A>G (p.Arg3528Gly)
c.3668A>G
c.7863A>G
c.5029A>G (p.Arg1677Gly)
c.7908A>G
c.10963A>G (p.Arg3655Gly)
c.1117A>G (p.Arg373Gly)
c.2319A>G
c.351A>G
c.2060A>G
c.4454A>G (n.4454A>G)
c.10837A>G (p.Arg3613Gly)
n.4766A>G
c.10966A>G (p.Arg3656Gly)
2g.73572840A>TCA347286507ALMS1c.10582A>T (p.Arg3528Ter)
c.3668A>T
c.7863A>T
c.5029A>T (p.Arg1677Ter)
c.7908A>T
c.10963A>T (p.Arg3655Ter)
c.1117A>T (p.Arg373Ter)
c.2319A>T
c.351A>T
c.2060A>T
c.4454A>T (n.4454A>T)
c.10837A>T (p.Arg3613Ter)
n.4766A>T
c.10966A>T (p.Arg3656Ter)
2g.73572841G>ACA347286512ALMS1c.10583G>A (p.Arg3528Lys)
c.3669G>A
c.7864G>A
c.5030G>A (p.Arg1677Lys)
c.7909G>A
c.10964G>A (p.Arg3655Lys)
c.1118G>A (p.Arg373Lys)
c.2320G>A
c.352G>A
c.2061G>A
c.4455G>A (n.4455G>A)
c.10838G>A (p.Arg3613Lys)
n.4767G>A
c.10967G>A (p.Arg3656Lys)
2g.73572841G>CCA347286518ALMS1c.10583G>C (p.Arg3528Thr)
c.3669G>C
c.7864G>C
c.5030G>C (p.Arg1677Thr)
c.7909G>C
c.10964G>C (p.Arg3655Thr)
c.1118G>C (p.Arg373Thr)
c.2320G>C
c.352G>C
c.2061G>C
c.4455G>C (n.4455G>C)
c.10838G>C (p.Arg3613Thr)
n.4767G>C
c.10967G>C (p.Arg3656Thr)
2g.73572841G>TCA347286515ALMS1c.10583G>T (p.Arg3528Ile)
c.3669G>T
c.7864G>T
c.5030G>T (p.Arg1677Ile)
c.7909G>T
c.10964G>T (p.Arg3655Ile)
c.1118G>T (p.Arg373Ile)
c.2320G>T
c.352G>T
c.2061G>T
c.4455G>T (n.4455G>T)
c.10838G>T (p.Arg3613Ile)
n.4767G>T
c.10967G>T (p.Arg3656Ile)
2g.73572842A>CCA347286520ALMS1c.10584A>C (p.Arg3528Ser)
c.3670A>C
c.7865A>C
c.5031A>C (p.Arg1677Ser)
c.7910A>C
c.10965A>C (p.Arg3655Ser)
c.1119A>C (p.Arg373Ser)
c.2321A>C
c.353A>C
c.2062A>C
c.4456A>C (n.4456A>C)
c.10839A>C (p.Arg3613Ser)
n.4768A>C
c.10968A>C (p.Arg3656Ser)
 gnomAD v4
2g.73572842A>GCA427024188ALMS1c.10584A>G (p.Arg3528=)
c.3670A>G
c.7865A>G
c.5031A>G (p.Arg1677=)
c.7910A>G
c.10965A>G (p.Arg3655=)
c.1119A>G (p.Arg373=)
c.2321A>G
c.353A>G
c.2062A>G
c.4456A>G (n.4456A>G)
c.10839A>G (p.Arg3613=)
n.4768A>G
c.10968A>G (p.Arg3656=)
2g.73572842A>TCA347286521ALMS1c.10584A>T (p.Arg3528Ser)
c.3670A>T
c.7865A>T
c.5031A>T (p.Arg1677Ser)
c.7910A>T
c.10965A>T (p.Arg3655Ser)
c.1119A>T (p.Arg373Ser)
c.2321A>T
c.353A>T
c.2062A>T
c.4456A>T (n.4456A>T)
c.10839A>T (p.Arg3613Ser)
n.4768A>T
c.10968A>T (p.Arg3656Ser)
2g.73572843G>ACA347286522ALMS1c.10585G>A (p.Gly3529Arg)
c.3671G>A
c.7866G>A
c.5032G>A (p.Gly1678Arg)
c.7911G>A
c.10966G>A (p.Gly3656Arg)
c.1120G>A (p.Gly374Arg)
c.2322G>A
c.354G>A
c.2063G>A
c.4457G>A (n.4457G>A)
c.10840G>A (p.Gly3614Arg)
n.4769G>A
c.10969G>A (p.Gly3657Arg)
 ClinVar dbSNP
2g.73572843G>CCA347286523ALMS1c.10585G>C (p.Gly3529Arg)
c.3671G>C
c.7866G>C
c.5032G>C (p.Gly1678Arg)
c.7911G>C
c.10966G>C (p.Gly3656Arg)
c.1120G>C (p.Gly374Arg)
c.2322G>C
c.354G>C
c.2063G>C
c.4457G>C (n.4457G>C)
c.10840G>C (p.Gly3614Arg)
n.4769G>C
c.10969G>C (p.Gly3657Arg)
2g.73572843G=CA1261022011ALMS1c.10585G= (p.Gly3529=)
c.3671G=
c.7866G=
c.5032G= (p.Gly1678=)
c.7911G=
c.10966G= (p.Gly3656=)
c.1120G= (p.Gly374=)
c.2322G=
c.354G=
c.2063G=
c.4457G= (n.4457G=)
c.10840G= (p.Gly3614=)
n.4769G=
c.10969G= (p.Gly3657=)
2g.73572843G>TCA347286524ALMS1c.10585G>T (p.Gly3529Trp)
c.3671G>T
c.7866G>T
c.5032G>T (p.Gly1678Trp)
c.7911G>T
c.10966G>T (p.Gly3656Trp)
c.1120G>T (p.Gly374Trp)
c.2322G>T
c.354G>T
c.2063G>T
c.4457G>T (n.4457G>T)
c.10840G>T (p.Gly3614Trp)
n.4769G>T
c.10969G>T (p.Gly3657Trp)
2g.73572844G>ACA347286526ALMS1c.10586G>A (p.Gly3529Glu)
c.3672G>A
c.7867G>A
c.5033G>A (p.Gly1678Glu)
c.7912G>A
c.10967G>A (p.Gly3656Glu)
c.1121G>A (p.Gly374Glu)
c.2323G>A
c.355G>A
c.2064G>A
c.4458G>A (n.4458G>A)
c.10841G>A (p.Gly3614Glu)
n.4770G>A
c.10970G>A (p.Gly3657Glu)
 ClinVar gnomAD v4
2g.73572844G>CCA347286528ALMS1c.10586G>C (p.Gly3529Ala)
c.3672G>C
c.7867G>C
c.5033G>C (p.Gly1678Ala)
c.7912G>C
c.10967G>C (p.Gly3656Ala)
c.1121G>C (p.Gly374Ala)
c.2323G>C
c.355G>C
c.2064G>C
c.4458G>C (n.4458G>C)
c.10841G>C (p.Gly3614Ala)
n.4770G>C
c.10970G>C (p.Gly3657Ala)
2g.73572844G>TCA347286529ALMS1c.10586G>T (p.Gly3529Val)
c.3672G>T
c.7867G>T
c.5033G>T (p.Gly1678Val)
c.7912G>T
c.10967G>T (p.Gly3656Val)
c.1121G>T (p.Gly374Val)
c.2323G>T
c.355G>T
c.2064G>T
c.4458G>T (n.4458G>T)
c.10841G>T (p.Gly3614Val)
n.4770G>T
c.10970G>T (p.Gly3657Val)
2g.73572845G>ACA427024194ALMS1c.10587G>A (p.Gly3529=)
c.3673G>A
c.7868G>A
c.5034G>A (p.Gly1678=)
c.7913G>A
c.10968G>A (p.Gly3656=)
c.1122G>A (p.Gly374=)
c.2324G>A
c.356G>A
c.2065G>A
c.4459G>A (n.4459G>A)
c.10842G>A (p.Gly3614=)
n.4771G>A
c.10971G>A (p.Gly3657=)
2g.73572845G>CCA427024196ALMS1c.10587G>C (p.Gly3529=)
c.3673G>C
c.7868G>C
c.5034G>C (p.Gly1678=)
c.7913G>C
c.10968G>C (p.Gly3656=)
c.1122G>C (p.Gly374=)
c.2324G>C
c.356G>C
c.2065G>C
c.4459G>C (n.4459G>C)
c.10842G>C (p.Gly3614=)
n.4771G>C
c.10971G>C (p.Gly3657=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572845G=CA1261022016ALMS1c.10587G= (p.Gly3529=)
c.3673G=
c.7868G=
c.5034G= (p.Gly1678=)
c.7913G=
c.10968G= (p.Gly3656=)
c.1122G= (p.Gly374=)
c.2324G=
c.356G=
c.2065G=
c.4459G= (n.4459G=)
c.10842G= (p.Gly3614=)
n.4771G=
c.10971G= (p.Gly3657=)
2g.73572845G>TCA427024197ALMS1c.10587G>T (p.Gly3529=)
c.3673G>T
c.7868G>T
c.5034G>T (p.Gly1678=)
c.7913G>T
c.10968G>T (p.Gly3656=)
c.1122G>T (p.Gly374=)
c.2324G>T
c.356G>T
c.2065G>T
c.4459G>T (n.4459G>T)
c.10842G>T (p.Gly3614=)
n.4771G>T
c.10971G>T (p.Gly3657=)
2g.73572846G>ACA347286532ALMS1c.10588G>A (p.Glu3530Lys)
c.3674G>A
c.7869G>A
c.5035G>A (p.Glu1679Lys)
c.7914G>A
c.10969G>A (p.Glu3657Lys)
c.1123G>A (p.Glu375Lys)
c.2325G>A
c.357G>A
c.2066G>A
c.4460G>A (n.4460G>A)
c.10843G>A (p.Glu3615Lys)
n.4772G>A
c.10972G>A (p.Glu3658Lys)
2g.73572846G>CCA347286534ALMS1c.10588G>C (p.Glu3530Gln)
c.3674G>C
c.7869G>C
c.5035G>C (p.Glu1679Gln)
c.7914G>C
c.10969G>C (p.Glu3657Gln)
c.1123G>C (p.Glu375Gln)
c.2325G>C
c.357G>C
c.2066G>C
c.4460G>C (n.4460G>C)
c.10843G>C (p.Glu3615Gln)
n.4772G>C
c.10972G>C (p.Glu3658Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572846G=CA1261022020ALMS1c.10588G= (p.Glu3530=)
c.3674G=
c.7869G=
c.5035G= (p.Glu1679=)
c.7914G=
c.10969G= (p.Glu3657=)
c.1123G= (p.Glu375=)
c.2325G=
c.357G=
c.2066G=
c.4460G= (n.4460G=)
c.10843G= (p.Glu3615=)
n.4772G=
c.10972G= (p.Glu3658=)
2g.73572846G>TCA347286537ALMS1c.10588G>T (p.Glu3530Ter)
c.3674G>T
c.7869G>T
c.5035G>T (p.Glu1679Ter)
c.7914G>T
c.10969G>T (p.Glu3657Ter)
c.1123G>T (p.Glu375Ter)
c.2325G>T
c.357G>T
c.2066G>T
c.4460G>T (n.4460G>T)
c.10843G>T (p.Glu3615Ter)
n.4772G>T
c.10972G>T (p.Glu3658Ter)
2g.73572847A>CCA347286548ALMS1c.10589A>C (p.Glu3530Ala)
c.3675A>C
c.7870A>C
c.5036A>C (p.Glu1679Ala)
c.7915A>C
c.10970A>C (p.Glu3657Ala)
c.1124A>C (p.Glu375Ala)
c.2326A>C
c.358A>C
c.2067A>C
c.4461A>C (n.4461A>C)
c.10844A>C (p.Glu3615Ala)
n.4773A>C
c.10973A>C (p.Glu3658Ala)
2g.73572847A>GCA347286541ALMS1c.10589A>G (p.Glu3530Gly)
c.3675A>G
c.7870A>G
c.5036A>G (p.Glu1679Gly)
c.7915A>G
c.10970A>G (p.Glu3657Gly)
c.1124A>G (p.Glu375Gly)
c.2326A>G
c.358A>G
c.2067A>G
c.4461A>G (n.4461A>G)
c.10844A>G (p.Glu3615Gly)
n.4773A>G
c.10973A>G (p.Glu3658Gly)
2g.73572847A>TCA347286546ALMS1c.10589A>T (p.Glu3530Val)
c.3675A>T
c.7870A>T
c.5036A>T (p.Glu1679Val)
c.7915A>T
c.10970A>T (p.Glu3657Val)
c.1124A>T (p.Glu375Val)
c.2326A>T
c.358A>T
c.2067A>T
c.4461A>T (n.4461A>T)
c.10844A>T (p.Glu3615Val)
n.4773A>T
c.10973A>T (p.Glu3658Val)
2g.73572848A=CA1261022023ALMS1c.10590A= (p.Glu3530=)
c.3676A=
c.7871A=
c.5037A= (p.Glu1679=)
c.7916A=
c.10971A= (p.Glu3657=)
c.1125A= (p.Glu375=)
c.2327A=
c.359A=
c.2068A=
c.4462A= (n.4462A=)
c.10845A= (p.Glu3615=)
n.4774A=
c.10974A= (p.Glu3658=)
2g.73572848A>CCA347286551ALMS1c.10590A>C (p.Glu3530Asp)
c.3676A>C
c.7871A>C
c.5037A>C (p.Glu1679Asp)
c.7916A>C
c.10971A>C (p.Glu3657Asp)
c.1125A>C (p.Glu375Asp)
c.2327A>C
c.359A>C
c.2068A>C
c.4462A>C (n.4462A>C)
c.10845A>C (p.Glu3615Asp)
n.4774A>C
c.10974A>C (p.Glu3658Asp)
2g.73572848A>GCA427024202ALMS1c.10590A>G (p.Glu3530=)
c.3676A>G
c.7871A>G
c.5037A>G (p.Glu1679=)
c.7916A>G
c.10971A>G (p.Glu3657=)
c.1125A>G (p.Glu375=)
c.2327A>G
c.359A>G
c.2068A>G
c.4462A>G (n.4462A>G)
c.10845A>G (p.Glu3615=)
n.4774A>G
c.10974A>G (p.Glu3658=)
 ClinVar dbSNP
2g.73572848A>TCA50386558ALMS1c.10590A>T (p.Glu3530Asp)
c.3676A>T
c.7871A>T
c.5037A>T (p.Glu1679Asp)
c.7916A>T
c.10971A>T (p.Glu3657Asp)
c.1125A>T (p.Glu375Asp)
c.2327A>T
c.359A>T
c.2068A>T
c.4462A>T (n.4462A>T)
c.10845A>T (p.Glu3615Asp)
n.4774A>T
c.10974A>T (p.Glu3658Asp)
 dbSNP gnomAD v4
2g.73572849C>ACA427024205ALMS1c.10591C>A (p.Arg3531=)
c.3677C>A
c.7872C>A
c.5038C>A (p.Arg1680=)
c.7917C>A
c.10972C>A (p.Arg3658=)
c.1126C>A (p.Arg376=)
c.2328C>A
c.360C>A
c.2069C>A
c.4463C>A (n.4463C>A)
c.10846C>A (p.Arg3616=)
n.4775C>A
c.10975C>A (p.Arg3659=)
 dbSNP gnomAD v2 gnomAD v4
2g.73572849C=CA1261022028ALMS1c.10591C= (p.Arg3531=)
c.3677C=
c.7872C=
c.5038C= (p.Arg1680=)
c.7917C=
c.10972C= (p.Arg3658=)
c.1126C= (p.Arg376=)
c.2328C=
c.360C=
c.2069C=
c.4463C= (n.4463C=)
c.10846C= (p.Arg3616=)
n.4775C=
c.10975C= (p.Arg3659=)
2g.73572849C>GCA347286556ALMS1c.10591C>G (p.Arg3531Gly)
c.3677C>G
c.7872C>G
c.5038C>G (p.Arg1680Gly)
c.7917C>G
c.10972C>G (p.Arg3658Gly)
c.1126C>G (p.Arg376Gly)
c.2328C>G
c.360C>G
c.2069C>G
c.4463C>G (n.4463C>G)
c.10846C>G (p.Arg3616Gly)
n.4775C>G
c.10975C>G (p.Arg3659Gly)
2g.73572849C>TCA50386559ALMS1c.10591C>T (p.Arg3531Ter)
c.3677C>T
c.7872C>T
c.5038C>T (p.Arg1680Ter)
c.7917C>T
c.10972C>T (p.Arg3658Ter)
c.1126C>T (p.Arg376Ter)
c.2328C>T
c.360C>T
c.2069C>T
c.4463C>T (n.4463C>T)
c.10846C>T (p.Arg3616Ter)
n.4775C>T
c.10975C>T (p.Arg3659Ter)
 ClinVar dbSNP gnomAD v4
2g.73572850G>ACA1715094ALMS1c.10592G>A (p.Arg3531Gln)
c.3678G>A
c.7873G>A
c.5039G>A (p.Arg1680Gln)
c.7918G>A
c.10973G>A (p.Arg3658Gln)
c.1127G>A (p.Arg376Gln)
c.2329G>A
c.361G>A
c.2070G>A
c.4464G>A (n.4464G>A)
c.10847G>A (p.Arg3616Gln)
n.4776G>A
c.10976G>A (p.Arg3659Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572850G>CCA347286566ALMS1c.10592G>C (p.Arg3531Pro)
c.3678G>C
c.7873G>C
c.5039G>C (p.Arg1680Pro)
c.7918G>C
c.10973G>C (p.Arg3658Pro)
c.1127G>C (p.Arg376Pro)
c.2329G>C
c.361G>C
c.2070G>C
c.4464G>C (n.4464G>C)
c.10847G>C (p.Arg3616Pro)
n.4776G>C
c.10976G>C (p.Arg3659Pro)
2g.73572850G=CA1261022036ALMS1c.10592G= (p.Arg3531=)
c.3678G=
c.7873G=
c.5039G= (p.Arg1680=)
c.7918G=
c.10973G= (p.Arg3658=)
c.1127G= (p.Arg376=)
c.2329G=
c.361G=
c.2070G=
c.4464G= (n.4464G=)
c.10847G= (p.Arg3616=)
n.4776G=
c.10976G= (p.Arg3659=)
2g.73572850G>TCA347286569ALMS1c.10592G>T (p.Arg3531Leu)
c.3678G>T
c.7873G>T
c.5039G>T (p.Arg1680Leu)
c.7918G>T
c.10973G>T (p.Arg3658Leu)
c.1127G>T (p.Arg376Leu)
c.2329G>T
c.361G>T
c.2070G>T
c.4464G>T (n.4464G>T)
c.10847G>T (p.Arg3616Leu)
n.4776G>T
c.10976G>T (p.Arg3659Leu)
2g.73572850_73572874delCA2750467830ALMS1c.10592_10616del (p.Arg3531HisfsTer17)
c.3678_3702del
c.7873_7897del
c.5039_5063del (p.Arg1680HisfsTer17)
c.7918_7942del
c.10973_10997del (p.Arg3658HisfsTer17)
c.1127_1151del (p.Arg376HisfsTer17)
c.2329_2353del
c.361_385del
c.2070_2094del
c.4464_4488del (n.4464_4488del)
c.10847_10871del (p.Arg3616HisfsTer17)
n.4776_4800del
c.10976_11000del (p.Arg3659HisfsTer17)
2g.73572851A>CCA427024207ALMS1c.10593A>C (p.Arg3531=)
c.3679A>C
c.7874A>C
c.5040A>C (p.Arg1680=)
c.7919A>C
c.10974A>C (p.Arg3658=)
c.1128A>C (p.Arg376=)
c.2330A>C
c.362A>C
c.2071A>C
c.4465A>C (n.4465A>C)
c.10848A>C (p.Arg3616=)
n.4777A>C
c.10977A>C (p.Arg3659=)
2g.73572851A>GCA427024208ALMS1c.10593A>G (p.Arg3531=)
c.3679A>G
c.7874A>G
c.5040A>G (p.Arg1680=)
c.7919A>G
c.10974A>G (p.Arg3658=)
c.1128A>G (p.Arg376=)
c.2330A>G
c.362A>G
c.2071A>G
c.4465A>G (n.4465A>G)
c.10848A>G (p.Arg3616=)
n.4777A>G
c.10977A>G (p.Arg3659=)
2g.73572851A>TCA427024209ALMS1c.10593A>T (p.Arg3531=)
c.3679A>T
c.7874A>T
c.5040A>T (p.Arg1680=)
c.7919A>T
c.10974A>T (p.Arg3658=)
c.1128A>T (p.Arg376=)
c.2330A>T
c.362A>T
c.2071A>T
c.4465A>T (n.4465A>T)
c.10848A>T (p.Arg3616=)
n.4777A>T
c.10977A>T (p.Arg3659=)
2g.73572852A>CCA347286573ALMS1c.10594A>C (p.Ser3532Arg)
c.3680A>C
c.7875A>C
c.5041A>C (p.Ser1681Arg)
c.7920A>C
c.10975A>C (p.Ser3659Arg)
c.1129A>C (p.Ser377Arg)
c.2331A>C
c.363A>C
c.2072A>C
c.4466A>C (n.4466A>C)
c.10849A>C (p.Ser3617Arg)
n.4778A>C
c.10978A>C (p.Ser3660Arg)
2g.73572852A>GCA347286576ALMS1c.10594A>G (p.Ser3532Gly)
c.3680A>G
c.7875A>G
c.5041A>G (p.Ser1681Gly)
c.7920A>G
c.10975A>G (p.Ser3659Gly)
c.1129A>G (p.Ser377Gly)
c.2331A>G
c.363A>G
c.2072A>G
c.4466A>G (n.4466A>G)
c.10849A>G (p.Ser3617Gly)
n.4778A>G
c.10978A>G (p.Ser3660Gly)
2g.73572852A>TCA347286580ALMS1c.10594A>T (p.Ser3532Cys)
c.3680A>T
c.7875A>T
c.5041A>T (p.Ser1681Cys)
c.7920A>T
c.10975A>T (p.Ser3659Cys)
c.1129A>T (p.Ser377Cys)
c.2331A>T
c.363A>T
c.2072A>T
c.4466A>T (n.4466A>T)
c.10849A>T (p.Ser3617Cys)
n.4778A>T
c.10978A>T (p.Ser3660Cys)
2g.73572853G>ACA347286590ALMS1c.10595G>A (p.Ser3532Asn)
c.3681G>A
c.7876G>A
c.5042G>A (p.Ser1681Asn)
c.7921G>A
c.10976G>A (p.Ser3659Asn)
c.1130G>A (p.Ser377Asn)
c.2332G>A
c.364G>A
c.2073G>A
c.4467G>A (n.4467G>A)
c.10850G>A (p.Ser3617Asn)
n.4779G>A
c.10979G>A (p.Ser3660Asn)
2g.73572853G>CCA347286587ALMS1c.10595G>C (p.Ser3532Thr)
c.3681G>C
c.7876G>C
c.5042G>C (p.Ser1681Thr)
c.7921G>C
c.10976G>C (p.Ser3659Thr)
c.1130G>C (p.Ser377Thr)
c.2332G>C
c.364G>C
c.2073G>C
c.4467G>C (n.4467G>C)
c.10850G>C (p.Ser3617Thr)
n.4779G>C
c.10979G>C (p.Ser3660Thr)
2g.73572853G>TCA347286584ALMS1c.10595G>T (p.Ser3532Ile)
c.3681G>T
c.7876G>T
c.5042G>T (p.Ser1681Ile)
c.7921G>T
c.10976G>T (p.Ser3659Ile)
c.1130G>T (p.Ser377Ile)
c.2332G>T
c.364G>T
c.2073G>T
c.4467G>T (n.4467G>T)
c.10850G>T (p.Ser3617Ile)
n.4779G>T
c.10979G>T (p.Ser3660Ile)
2g.73572854T>ACA347286593ALMS1c.10596T>A (p.Ser3532Arg)
c.3682T>A
c.7877T>A
c.5043T>A (p.Ser1681Arg)
c.7922T>A
c.10977T>A (p.Ser3659Arg)
c.1131T>A (p.Ser377Arg)
c.2333T>A
c.365T>A
c.2074T>A
c.4468T>A (n.4468T>A)
c.10851T>A (p.Ser3617Arg)
n.4780T>A
c.10980T>A (p.Ser3660Arg)
2g.73572854T>CCA427024219ALMS1c.10596T>C (p.Ser3532=)
c.3682T>C
c.7877T>C
c.5043T>C (p.Ser1681=)
c.7922T>C
c.10977T>C (p.Ser3659=)
c.1131T>C (p.Ser377=)
c.2333T>C
c.365T>C
c.2074T>C
c.4468T>C (n.4468T>C)
c.10851T>C (p.Ser3617=)
n.4780T>C
c.10980T>C (p.Ser3660=)
 dbSNP gnomAD v3 gnomAD v4
2g.73572854T>GCA347286597ALMS1c.10596T>G (p.Ser3532Arg)
c.3682T>G
c.7877T>G
c.5043T>G (p.Ser1681Arg)
c.7922T>G
c.10977T>G (p.Ser3659Arg)
c.1131T>G (p.Ser377Arg)
c.2333T>G
c.365T>G
c.2074T>G
c.4468T>G (n.4468T>G)
c.10851T>G (p.Ser3617Arg)
n.4780T>G
c.10980T>G (p.Ser3660Arg)
2g.73572854T=CA1261022038ALMS1c.10596T= (p.Ser3532=)
c.3682T=
c.7877T=
c.5043T= (p.Ser1681=)
c.7922T=
c.10977T= (p.Ser3659=)
c.1131T= (p.Ser377=)
c.2333T=
c.365T=
c.2074T=
c.4468T= (n.4468T=)
c.10851T= (p.Ser3617=)
n.4780T=
c.10980T= (p.Ser3660=)
2g.73572855G>ACA347286600ALMS1c.10597G>A (p.Val3533Met)
c.3683G>A
c.7878G>A
c.5044G>A (p.Val1682Met)
c.7923G>A
c.10978G>A (p.Val3660Met)
c.1132G>A (p.Val378Met)
c.2334G>A
c.366G>A
c.2075G>A
c.4469G>A (n.4469G>A)
c.10852G>A (p.Val3618Met)
n.4781G>A
c.10981G>A (p.Val3661Met)
 gnomAD v4
2g.73572855G>CCA347286603ALMS1c.10597G>C (p.Val3533Leu)
c.3683G>C
c.7878G>C
c.5044G>C (p.Val1682Leu)
c.7923G>C
c.10978G>C (p.Val3660Leu)
c.1132G>C (p.Val378Leu)
c.2334G>C
c.366G>C
c.2075G>C
c.4469G>C (n.4469G>C)
c.10852G>C (p.Val3618Leu)
n.4781G>C
c.10981G>C (p.Val3661Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.73572855G=CA1261022039ALMS1c.10597G= (p.Val3533=)
c.3683G=
c.7878G=
c.5044G= (p.Val1682=)
c.7923G=
c.10978G= (p.Val3660=)
c.1132G= (p.Val378=)
c.2334G=
c.366G=
c.2075G=
c.4469G= (n.4469G=)
c.10852G= (p.Val3618=)
n.4781G=
c.10981G= (p.Val3661=)
2g.73572855G>TCA347286606ALMS1c.10597G>T (p.Val3533Leu)
c.3683G>T
c.7878G>T
c.5044G>T (p.Val1682Leu)
c.7923G>T
c.10978G>T (p.Val3660Leu)
c.1132G>T (p.Val378Leu)
c.2334G>T
c.366G>T
c.2075G>T
c.4469G>T (n.4469G>T)
c.10852G>T (p.Val3618Leu)
n.4781G>T
c.10981G>T (p.Val3661Leu)
2g.73572856T>ACA347286610ALMS1c.10598T>A (p.Val3533Glu)
c.3684T>A
c.7879T>A
c.5045T>A (p.Val1682Glu)
c.7924T>A
c.10979T>A (p.Val3660Glu)
c.1133T>A (p.Val378Glu)
c.2335T>A
c.367T>A
c.2076T>A
c.4470T>A (n.4470T>A)
c.10853T>A (p.Val3618Glu)
n.4782T>A
c.10982T>A (p.Val3661Glu)
2g.73572856T>CCA347286611ALMS1c.10598T>C (p.Val3533Ala)
c.3684T>C
c.7879T>C
c.5045T>C (p.Val1682Ala)
c.7924T>C
c.10979T>C (p.Val3660Ala)
c.1133T>C (p.Val378Ala)
c.2335T>C
c.367T>C
c.2076T>C
c.4470T>C (n.4470T>C)
c.10853T>C (p.Val3618Ala)
n.4782T>C
c.10982T>C (p.Val3661Ala)
2g.73572856T>GCA347286614ALMS1c.10598T>G (p.Val3533Gly)
c.3684T>G
c.7879T>G
c.5045T>G (p.Val1682Gly)
c.7924T>G
c.10979T>G (p.Val3660Gly)
c.1133T>G (p.Val378Gly)
c.2335T>G
c.367T>G
c.2076T>G
c.4470T>G (n.4470T>G)
c.10853T>G (p.Val3618Gly)
n.4782T>G
c.10982T>G (p.Val3661Gly)
2g.73572857G>ACA1715095ALMS1c.10599G>A (p.Val3533=)
c.3685G>A
c.7880G>A
c.5046G>A (p.Val1682=)
c.7925G>A
c.10980G>A (p.Val3660=)
c.1134G>A (p.Val378=)
c.2336G>A
c.368G>A
c.2077G>A
c.4471G>A (n.4471G>A)
c.10854G>A (p.Val3618=)
n.4783G>A
c.10983G>A (p.Val3661=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572857G>CCA427024225ALMS1c.10599G>C (p.Val3533=)
c.3685G>C
c.7880G>C
c.5046G>C (p.Val1682=)
c.7925G>C
c.10980G>C (p.Val3660=)
c.1134G>C (p.Val378=)
c.2336G>C
c.368G>C
c.2077G>C
c.4471G>C (n.4471G>C)
c.10854G>C (p.Val3618=)
n.4783G>C
c.10983G>C (p.Val3661=)
2g.73572857G=CA1261022041ALMS1c.10599G= (p.Val3533=)
c.3685G=
c.7880G=
c.5046G= (p.Val1682=)
c.7925G=
c.10980G= (p.Val3660=)
c.1134G= (p.Val378=)
c.2336G=
c.368G=
c.2077G=
c.4471G= (n.4471G=)
c.10854G= (p.Val3618=)
n.4783G=
c.10983G= (p.Val3661=)
2g.73572857G>TCA427024224ALMS1c.10599G>T (p.Val3533=)
c.3685G>T
c.7880G>T
c.5046G>T (p.Val1682=)
c.7925G>T
c.10980G>T (p.Val3660=)
c.1134G>T (p.Val378=)
c.2336G>T
c.368G>T
c.2077G>T
c.4471G>T (n.4471G>T)
c.10854G>T (p.Val3618=)
n.4783G>T
c.10983G>T (p.Val3661=)
2g.73572858A>CCA347286621ALMS1c.10600A>C (p.Lys3534Gln)
c.3686A>C
c.7881A>C
c.5047A>C (p.Lys1683Gln)
c.7926A>C
c.10981A>C (p.Lys3661Gln)
c.1135A>C (p.Lys379Gln)
c.2337A>C
c.369A>C
c.2078A>C
c.4472A>C (n.4472A>C)
c.10855A>C (p.Lys3619Gln)
n.4784A>C
c.10984A>C (p.Lys3662Gln)
2g.73572858A>GCA347286623ALMS1c.10600A>G (p.Lys3534Glu)
c.3686A>G
c.7881A>G
c.5047A>G (p.Lys1683Glu)
c.7926A>G
c.10981A>G (p.Lys3661Glu)
c.1135A>G (p.Lys379Glu)
c.2337A>G
c.369A>G
c.2078A>G
c.4472A>G (n.4472A>G)
c.10855A>G (p.Lys3619Glu)
n.4784A>G
c.10984A>G (p.Lys3662Glu)
2g.73572858A>TCA347286625ALMS1c.10600A>T (p.Lys3534Ter)
c.3686A>T
c.7881A>T
c.5047A>T (p.Lys1683Ter)
c.7926A>T
c.10981A>T (p.Lys3661Ter)
c.1135A>T (p.Lys379Ter)
c.2337A>T
c.369A>T
c.2078A>T
c.4472A>T (n.4472A>T)
c.10855A>T (p.Lys3619Ter)
n.4784A>T
c.10984A>T (p.Lys3662Ter)
2g.73572859A>CCA347286637ALMS1c.10601A>C (p.Lys3534Thr)
c.3687A>C
c.7882A>C
c.5048A>C (p.Lys1683Thr)
c.7927A>C
c.10982A>C (p.Lys3661Thr)
c.1136A>C (p.Lys379Thr)
c.2338A>C
c.370A>C
c.2079A>C
c.4473A>C (n.4473A>C)
c.10856A>C (p.Lys3619Thr)
n.4785A>C
c.10985A>C (p.Lys3662Thr)
2g.73572859A>GCA347286632ALMS1c.10601A>G (p.Lys3534Arg)
c.3687A>G
c.7882A>G
c.5048A>G (p.Lys1683Arg)
c.7927A>G
c.10982A>G (p.Lys3661Arg)
c.1136A>G (p.Lys379Arg)
c.2338A>G
c.370A>G
c.2079A>G
c.4473A>G (n.4473A>G)
c.10856A>G (p.Lys3619Arg)
n.4785A>G
c.10985A>G (p.Lys3662Arg)
2g.73572859A>TCA347286633ALMS1c.10601A>T (p.Lys3534Met)
c.3687A>T
c.7882A>T
c.5048A>T (p.Lys1683Met)
c.7927A>T
c.10982A>T (p.Lys3661Met)
c.1136A>T (p.Lys379Met)
c.2338A>T
c.370A>T
c.2079A>T
c.4473A>T (n.4473A>T)
c.10856A>T (p.Lys3619Met)
n.4785A>T
c.10985A>T (p.Lys3662Met)
2g.73572860G>ACA427024227ALMS1c.10602G>A (p.Lys3534=)
c.3688G>A
c.7883G>A
c.5049G>A (p.Lys1683=)
c.7928G>A
c.10983G>A (p.Lys3661=)
c.1137G>A (p.Lys379=)
c.2339G>A
c.371G>A
c.2080G>A
c.4474G>A (n.4474G>A)
c.10857G>A (p.Lys3619=)
n.4786G>A
c.10986G>A (p.Lys3662=)
2g.73572860G>CCA347286641ALMS1c.10602G>C (p.Lys3534Asn)
c.3688G>C
c.7883G>C
c.5049G>C (p.Lys1683Asn)
c.7928G>C
c.10983G>C (p.Lys3661Asn)
c.1137G>C (p.Lys379Asn)
c.2339G>C
c.371G>C
c.2080G>C
c.4474G>C (n.4474G>C)
c.10857G>C (p.Lys3619Asn)
n.4786G>C
c.10986G>C (p.Lys3662Asn)
2g.73572860G>TCA347286643ALMS1c.10602G>T (p.Lys3534Asn)
c.3688G>T
c.7883G>T
c.5049G>T (p.Lys1683Asn)
c.7928G>T
c.10983G>T (p.Lys3661Asn)
c.1137G>T (p.Lys379Asn)
c.2339G>T
c.371G>T
c.2080G>T
c.4474G>T (n.4474G>T)
c.10857G>T (p.Lys3619Asn)
n.4786G>T
c.10986G>T (p.Lys3662Asn)
2g.73572861G>ACA347286648ALMS1c.10603G>A (p.Glu3535Lys)
c.3689G>A
c.7884G>A
c.5050G>A (p.Glu1684Lys)
c.7929G>A
c.10984G>A (p.Glu3662Lys)
c.1138G>A (p.Glu380Lys)
c.2340G>A
c.372G>A
c.2081G>A
c.4475G>A (n.4475G>A)
c.10858G>A (p.Glu3620Lys)
n.4787G>A
c.10987G>A (p.Glu3663Lys)
2g.73572861G>CCA347286651ALMS1c.10603G>C (p.Glu3535Gln)
c.3689G>C
c.7884G>C
c.5050G>C (p.Glu1684Gln)
c.7929G>C
c.10984G>C (p.Glu3662Gln)
c.1138G>C (p.Glu380Gln)
c.2340G>C
c.372G>C
c.2081G>C
c.4475G>C (n.4475G>C)
c.10858G>C (p.Glu3620Gln)
n.4787G>C
c.10987G>C (p.Glu3663Gln)
2g.73572861G>TCA347286652ALMS1c.10603G>T (p.Glu3535Ter)
c.3689G>T
c.7884G>T
c.5050G>T (p.Glu1684Ter)
c.7929G>T
c.10984G>T (p.Glu3662Ter)
c.1138G>T (p.Glu380Ter)
c.2340G>T
c.372G>T
c.2081G>T
c.4475G>T (n.4475G>T)
c.10858G>T (p.Glu3620Ter)
n.4787G>T
c.10987G>T (p.Glu3663Ter)
 ClinVar
2g.73572862A=CA1261022043ALMS1c.10604A= (p.Glu3535=)
c.3690A=
c.7885A=
c.5051A= (p.Glu1684=)
c.7930A=
c.10985A= (p.Glu3662=)
c.1139A= (p.Glu380=)
c.2341A=
c.373A=
c.2082A=
c.4476A= (n.4476A=)
c.10859A= (p.Glu3620=)
n.4788A=
c.10988A= (p.Glu3663=)
2g.73572862A>CCA347286656ALMS1c.10604A>C (p.Glu3535Ala)
c.3690A>C
c.7885A>C
c.5051A>C (p.Glu1684Ala)
c.7930A>C
c.10985A>C (p.Glu3662Ala)
c.1139A>C (p.Glu380Ala)
c.2341A>C
c.373A>C
c.2082A>C
c.4476A>C (n.4476A>C)
c.10859A>C (p.Glu3620Ala)
n.4788A>C
c.10988A>C (p.Glu3663Ala)
2g.73572862A>GCA1715096ALMS1c.10604A>G (p.Glu3535Gly)
c.3690A>G
c.7885A>G
c.5051A>G (p.Glu1684Gly)
c.7930A>G
c.10985A>G (p.Glu3662Gly)
c.1139A>G (p.Glu380Gly)
c.2341A>G
c.373A>G
c.2082A>G
c.4476A>G (n.4476A>G)
c.10859A>G (p.Glu3620Gly)
n.4788A>G
c.10988A>G (p.Glu3663Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572862A>TCA347286660ALMS1c.10604A>T (p.Glu3535Val)
c.3690A>T
c.7885A>T
c.5051A>T (p.Glu1684Val)
c.7930A>T
c.10985A>T (p.Glu3662Val)
c.1139A>T (p.Glu380Val)
c.2341A>T
c.373A>T
c.2082A>T
c.4476A>T (n.4476A>T)
c.10859A>T (p.Glu3620Val)
n.4788A>T
c.10988A>T (p.Glu3663Val)
2g.73572863A=CA1261022048ALMS1c.10605A= (p.Glu3535=)
c.3691A=
c.7886A=
c.5052A= (p.Glu1684=)
c.7931A=
c.10986A= (p.Glu3662=)
c.1140A= (p.Glu380=)
c.2342A=
c.374A=
c.2083A=
c.4477A= (n.4477A=)
c.10860A= (p.Glu3620=)
n.4789A=
c.10989A= (p.Glu3663=)
2g.73572863A>CCA347286665ALMS1c.10605A>C (p.Glu3535Asp)
c.3691A>C
c.7886A>C
c.5052A>C (p.Glu1684Asp)
c.7931A>C
c.10986A>C (p.Glu3662Asp)
c.1140A>C (p.Glu380Asp)
c.2342A>C
c.374A>C
c.2083A>C
c.4477A>C (n.4477A>C)
c.10860A>C (p.Glu3620Asp)
n.4789A>C
c.10989A>C (p.Glu3663Asp)
2g.73572863A>GCA1715097ALMS1c.10605A>G (p.Glu3535=)
c.3691A>G
c.7886A>G
c.5052A>G (p.Glu1684=)
c.7931A>G
c.10986A>G (p.Glu3662=)
c.1140A>G (p.Glu380=)
c.2342A>G
c.374A>G
c.2083A>G
c.4477A>G (n.4477A>G)
c.10860A>G (p.Glu3620=)
n.4789A>G
c.10989A>G (p.Glu3663=)
 ClinVar dbSNP ExAC gnomAD v2
2g.73572863A>TCA347286669ALMS1c.10605A>T (p.Glu3535Asp)
c.3691A>T
c.7886A>T
c.5052A>T (p.Glu1684Asp)
c.7931A>T
c.10986A>T (p.Glu3662Asp)
c.1140A>T (p.Glu380Asp)
c.2342A>T
c.374A>T
c.2083A>T
c.4477A>T (n.4477A>T)
c.10860A>T (p.Glu3620Asp)
n.4789A>T
c.10989A>T (p.Glu3663Asp)
2g.73572864T>ACA347286675ALMS1c.10606T>A (p.Trp3536Arg)
c.3692T>A
c.7887T>A
c.5053T>A (p.Trp1685Arg)
c.7932T>A
c.10987T>A (p.Trp3663Arg)
c.1141T>A (p.Trp381Arg)
c.2343T>A
c.375T>A
c.2084T>A
c.4478T>A (n.4478T>A)
c.10861T>A (p.Trp3621Arg)
n.4790T>A
c.10990T>A (p.Trp3664Arg)
2g.73572864T>CCA347286677ALMS1c.10606T>C (p.Trp3536Arg)
c.3692T>C
c.7887T>C
c.5053T>C (p.Trp1685Arg)
c.7932T>C
c.10987T>C (p.Trp3663Arg)
c.1141T>C (p.Trp381Arg)
c.2343T>C
c.375T>C
c.2084T>C
c.4478T>C (n.4478T>C)
c.10861T>C (p.Trp3621Arg)
n.4790T>C
c.10990T>C (p.Trp3664Arg)
 dbSNP gnomAD v4
2g.73572864T>GCA1715098ALMS1c.10606T>G (p.Trp3536Gly)
c.3692T>G
c.7887T>G
c.5053T>G (p.Trp1685Gly)
c.7932T>G
c.10987T>G (p.Trp3663Gly)
c.1141T>G (p.Trp381Gly)
c.2343T>G
c.375T>G
c.2084T>G
c.4478T>G (n.4478T>G)
c.10861T>G (p.Trp3621Gly)
n.4790T>G
c.10990T>G (p.Trp3664Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572864T=CA1261022050ALMS1c.10606T= (p.Trp3536=)
c.3692T=
c.7887T=
c.5053T= (p.Trp1685=)
c.7932T=
c.10987T= (p.Trp3663=)
c.1141T= (p.Trp381=)
c.2343T=
c.375T=
c.2084T=
c.4478T= (n.4478T=)
c.10861T= (p.Trp3621=)
n.4790T=
c.10990T= (p.Trp3664=)
2g.73572865G>ACA347286686ALMS1c.10607G>A (p.Trp3536Ter)
c.3693G>A
c.7888G>A
c.5054G>A (p.Trp1685Ter)
c.7933G>A
c.10988G>A (p.Trp3663Ter)
c.1142G>A (p.Trp381Ter)
c.2344G>A
c.376G>A
c.2085G>A
c.4479G>A (n.4479G>A)
c.10862G>A (p.Trp3621Ter)
n.4791G>A
c.10991G>A (p.Trp3664Ter)
 ClinVar dbSNP
2g.73572865G>CCA347286681ALMS1c.10607G>C (p.Trp3536Ser)
c.3693G>C
c.7888G>C
c.5054G>C (p.Trp1685Ser)
c.7933G>C
c.10988G>C (p.Trp3663Ser)
c.1142G>C (p.Trp381Ser)
c.2344G>C
c.376G>C
c.2085G>C
c.4479G>C (n.4479G>C)
c.10862G>C (p.Trp3621Ser)
n.4791G>C
c.10991G>C (p.Trp3664Ser)
2g.73572865G=CA1261022053ALMS1c.10607G= (p.Trp3536=)
c.3693G=
c.7888G=
c.5054G= (p.Trp1685=)
c.7933G=
c.10988G= (p.Trp3663=)
c.1142G= (p.Trp381=)
c.2344G=
c.376G=
c.2085G=
c.4479G= (n.4479G=)
c.10862G= (p.Trp3621=)
n.4791G=
c.10991G= (p.Trp3664=)
2g.73572865G>TCA347286684ALMS1c.10607G>T (p.Trp3536Leu)
c.3693G>T
c.7888G>T
c.5054G>T (p.Trp1685Leu)
c.7933G>T
c.10988G>T (p.Trp3663Leu)
c.1142G>T (p.Trp381Leu)
c.2344G>T
c.376G>T
c.2085G>T
c.4479G>T (n.4479G>T)
c.10862G>T (p.Trp3621Leu)
n.4791G>T
c.10991G>T (p.Trp3664Leu)
2g.73572866G>ACA252955ALMS1c.10608G>A (p.Trp3536Ter)
c.3694G>A
c.7889G>A
c.5055G>A (p.Trp1685Ter)
c.7934G>A
c.10989G>A (p.Trp3663Ter)
c.1143G>A (p.Trp381Ter)
c.2345G>A
c.377G>A
c.2086G>A
c.4480G>A (n.4480G>A)
c.10863G>A (p.Trp3621Ter)
n.4792G>A
c.10992G>A (p.Trp3664Ter)
 ClinVar dbSNP
2g.73572866G>CCA347286692ALMS1c.10608G>C (p.Trp3536Cys)
c.3694G>C
c.7889G>C
c.5055G>C (p.Trp1685Cys)
c.7934G>C
c.10989G>C (p.Trp3663Cys)
c.1143G>C (p.Trp381Cys)
c.2345G>C
c.377G>C
c.2086G>C
c.4480G>C (n.4480G>C)
c.10863G>C (p.Trp3621Cys)
n.4792G>C
c.10992G>C (p.Trp3664Cys)
2g.73572866G=CA1261022060ALMS1c.10608G= (p.Trp3536=)
c.3694G=
c.7889G=
c.5055G= (p.Trp1685=)
c.7934G=
c.10989G= (p.Trp3663=)
c.1143G= (p.Trp381=)
c.2345G=
c.377G=
c.2086G=
c.4480G= (n.4480G=)
c.10863G= (p.Trp3621=)
n.4792G=
c.10992G= (p.Trp3664=)
2g.73572866G>TCA347286695ALMS1c.10608G>T (p.Trp3536Cys)
c.3694G>T
c.7889G>T
c.5055G>T (p.Trp1685Cys)
c.7934G>T
c.10989G>T (p.Trp3663Cys)
c.1143G>T (p.Trp381Cys)
c.2345G>T
c.377G>T
c.2086G>T
c.4480G>T (n.4480G>T)
c.10863G>T (p.Trp3621Cys)
n.4792G>T
c.10992G>T (p.Trp3664Cys)
2g.73572867A>CCA347286699ALMS1c.10609A>C (p.Ser3537Arg)
c.3695A>C
c.7890A>C
c.5056A>C (p.Ser1686Arg)
c.7935A>C
c.10990A>C (p.Ser3664Arg)
c.1144A>C (p.Ser382Arg)
c.2346A>C
c.378A>C
c.2087A>C
c.4481A>C (n.4481A>C)
c.10864A>C (p.Ser3622Arg)
n.4793A>C
c.10993A>C (p.Ser3665Arg)
2g.73572867A>GCA347286701ALMS1c.10609A>G (p.Ser3537Gly)
c.3695A>G
c.7890A>G
c.5056A>G (p.Ser1686Gly)
c.7935A>G
c.10990A>G (p.Ser3664Gly)
c.1144A>G (p.Ser382Gly)
c.2346A>G
c.378A>G
c.2087A>G
c.4481A>G (n.4481A>G)
c.10864A>G (p.Ser3622Gly)
n.4793A>G
c.10993A>G (p.Ser3665Gly)
2g.73572867A>TCA347286704ALMS1c.10609A>T (p.Ser3537Cys)
c.3695A>T
c.7890A>T
c.5056A>T (p.Ser1686Cys)
c.7935A>T
c.10990A>T (p.Ser3664Cys)
c.1144A>T (p.Ser382Cys)
c.2346A>T
c.378A>T
c.2087A>T
c.4481A>T (n.4481A>T)
c.10864A>T (p.Ser3622Cys)
n.4793A>T
c.10993A>T (p.Ser3665Cys)
2g.73572868G>ACA347286706ALMS1c.10610G>A (p.Ser3537Asn)
c.3696G>A
c.7891G>A
c.5057G>A (p.Ser1686Asn)
c.7936G>A
c.10991G>A (p.Ser3664Asn)
c.1145G>A (p.Ser382Asn)
c.2347G>A
c.379G>A
c.2088G>A
c.4482G>A (n.4482G>A)
c.10865G>A (p.Ser3622Asn)
n.4794G>A
c.10994G>A (p.Ser3665Asn)
 gnomAD v4
2g.73572868G>CCA347286709ALMS1c.10610G>C (p.Ser3537Thr)
c.3696G>C
c.7891G>C
c.5057G>C (p.Ser1686Thr)
c.7936G>C
c.10991G>C (p.Ser3664Thr)
c.1145G>C (p.Ser382Thr)
c.2347G>C
c.379G>C
c.2088G>C
c.4482G>C (n.4482G>C)
c.10865G>C (p.Ser3622Thr)
n.4794G>C
c.10994G>C (p.Ser3665Thr)
 gnomAD v4
2g.73572868G>TCA347286712ALMS1c.10610G>T (p.Ser3537Ile)
c.3696G>T
c.7891G>T
c.5057G>T (p.Ser1686Ile)
c.7936G>T
c.10991G>T (p.Ser3664Ile)
c.1145G>T (p.Ser382Ile)
c.2347G>T
c.379G>T
c.2088G>T
c.4482G>T (n.4482G>T)
c.10865G>T (p.Ser3622Ile)
n.4794G>T
c.10994G>T (p.Ser3665Ile)
2g.73572869T>ACA347286715ALMS1c.10611T>A (p.Ser3537Arg)
c.3697T>A
c.7892T>A
c.5058T>A (p.Ser1686Arg)
c.7937T>A
c.10992T>A (p.Ser3664Arg)
c.1146T>A (p.Ser382Arg)
c.2348T>A
c.380T>A
c.2089T>A
c.4483T>A (n.4483T>A)
c.10866T>A (p.Ser3622Arg)
n.4795T>A
c.10995T>A (p.Ser3665Arg)
2g.73572869T>CCA427024350ALMS1c.10611T>C (p.Ser3537=)
c.3697T>C
c.7892T>C
c.5058T>C (p.Ser1686=)
c.7937T>C
c.10992T>C (p.Ser3664=)
c.1146T>C (p.Ser382=)
c.2348T>C
c.380T>C
c.2089T>C
c.4483T>C (n.4483T>C)
c.10866T>C (p.Ser3622=)
n.4795T>C
c.10995T>C (p.Ser3665=)
2g.73572869T>GCA347286718ALMS1c.10611T>G (p.Ser3537Arg)
c.3697T>G
c.7892T>G
c.5058T>G (p.Ser1686Arg)
c.7937T>G
c.10992T>G (p.Ser3664Arg)
c.1146T>G (p.Ser382Arg)
c.2348T>G
c.380T>G
c.2089T>G
c.4483T>G (n.4483T>G)
c.10866T>G (p.Ser3622Arg)
n.4795T>G
c.10995T>G (p.Ser3665Arg)
2g.73572870G>ACA347286720ALMS1c.10612G>A (p.Gly3538Ser)
c.3698G>A
c.7893G>A
c.5059G>A (p.Gly1687Ser)
c.7938G>A
c.10993G>A (p.Gly3665Ser)
c.1147G>A (p.Gly383Ser)
c.2349G>A
c.381G>A
c.2090G>A
c.4484G>A (n.4484G>A)
c.10867G>A (p.Gly3623Ser)
n.4796G>A
c.10996G>A (p.Gly3666Ser)
2g.73572870G>CCA347286727ALMS1c.10612G>C (p.Gly3538Arg)
c.3698G>C
c.7893G>C
c.5059G>C (p.Gly1687Arg)
c.7938G>C
c.10993G>C (p.Gly3665Arg)
c.1147G>C (p.Gly383Arg)
c.2349G>C
c.381G>C
c.2090G>C
c.4484G>C (n.4484G>C)
c.10867G>C (p.Gly3623Arg)
n.4796G>C
c.10996G>C (p.Gly3666Arg)
2g.73572870G>TCA347286724ALMS1c.10612G>T (p.Gly3538Cys)
c.3698G>T
c.7893G>T
c.5059G>T (p.Gly1687Cys)
c.7938G>T
c.10993G>T (p.Gly3665Cys)
c.1147G>T (p.Gly383Cys)
c.2349G>T
c.381G>T
c.2090G>T
c.4484G>T (n.4484G>T)
c.10867G>T (p.Gly3623Cys)
n.4796G>T
c.10996G>T (p.Gly3666Cys)
 gnomAD v4
2g.73572871G>ACA50386604ALMS1c.10613G>A (p.Gly3538Asp)
c.3699G>A
c.7894G>A
c.5060G>A (p.Gly1687Asp)
c.7939G>A
c.10994G>A (p.Gly3665Asp)
c.1148G>A (p.Gly383Asp)
c.2350G>A
c.382G>A
c.2091G>A
c.4485G>A (n.4485G>A)
c.10868G>A (p.Gly3623Asp)
n.4797G>A
c.10997G>A (p.Gly3666Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572871G>CCA347286736ALMS1c.10613G>C (p.Gly3538Ala)
c.3699G>C
c.7894G>C
c.5060G>C (p.Gly1687Ala)
c.7939G>C
c.10994G>C (p.Gly3665Ala)
c.1148G>C (p.Gly383Ala)
c.2350G>C
c.382G>C
c.2091G>C
c.4485G>C (n.4485G>C)
c.10868G>C (p.Gly3623Ala)
n.4797G>C
c.10997G>C (p.Gly3666Ala)
2g.73572871G=CA1261022064ALMS1c.10613G= (p.Gly3538=)
c.3699G=
c.7894G=
c.5060G= (p.Gly1687=)
c.7939G=
c.10994G= (p.Gly3665=)
c.1148G= (p.Gly383=)
c.2350G=
c.382G=
c.2091G=
c.4485G= (n.4485G=)
c.10868G= (p.Gly3623=)
n.4797G=
c.10997G= (p.Gly3666=)
2g.73572871G>TCA347286738ALMS1c.10613G>T (p.Gly3538Val)
c.3699G>T
c.7894G>T
c.5060G>T (p.Gly1687Val)
c.7939G>T
c.10994G>T (p.Gly3665Val)
c.1148G>T (p.Gly383Val)
c.2350G>T
c.382G>T
c.2091G>T
c.4485G>T (n.4485G>T)
c.10868G>T (p.Gly3623Val)
n.4797G>T
c.10997G>T (p.Gly3666Val)
 ClinVar gnomAD v4
2g.73572872delCA2750467833ALMS1c.10614del (p.Arg3539AspfsTer17)
c.3700del
c.7895del
c.5061del (p.Arg1688AspfsTer17)
c.7940del
c.10995del (p.Arg3666AspfsTer17)
c.1149del (p.Arg384AspfsTer17)
c.2351del
c.383del
c.2092del
c.4486del (n.4486del)
c.10869del (p.Arg3624AspfsTer17)
n.4798del
c.10998del (p.Arg3667AspfsTer17)
2g.73572872T>ACA427024355ALMS1c.10614T>A (p.Gly3538=)
c.3700T>A
c.7895T>A
c.5061T>A (p.Gly1687=)
c.7940T>A
c.10995T>A (p.Gly3665=)
c.1149T>A (p.Gly383=)
c.2351T>A
c.383T>A
c.2092T>A
c.4486T>A (n.4486T>A)
c.10869T>A (p.Gly3623=)
n.4798T>A
c.10998T>A (p.Gly3666=)
2g.73572872T>CCA427024357ALMS1c.10614T>C (p.Gly3538=)
c.3700T>C
c.7895T>C
c.5061T>C (p.Gly1687=)
c.7940T>C
c.10995T>C (p.Gly3665=)
c.1149T>C (p.Gly383=)
c.2351T>C
c.383T>C
c.2092T>C
c.4486T>C (n.4486T>C)
c.10869T>C (p.Gly3623=)
n.4798T>C
c.10998T>C (p.Gly3666=)
 ClinVar gnomAD v4
2g.73572872T>GCA427024356ALMS1c.10614T>G (p.Gly3538=)
c.3700T>G
c.7895T>G
c.5061T>G (p.Gly1687=)
c.7940T>G
c.10995T>G (p.Gly3665=)
c.1149T>G (p.Gly383=)
c.2351T>G
c.383T>G
c.2092T>G
c.4486T>G (n.4486T>G)
c.10869T>G (p.Gly3623=)
n.4798T>G
c.10998T>G (p.Gly3666=)
2g.73572873A=CA1261022069ALMS1c.10615A= (p.Arg3539=)
c.3701A=
c.7896A=
c.5062A= (p.Arg1688=)
c.7941A=
c.10996A= (p.Arg3666=)
c.1150A= (p.Arg384=)
c.2352A=
c.384A=
c.2093A=
c.4487A= (n.4487A=)
c.10870A= (p.Arg3624=)
n.4799A=
c.10999A= (p.Arg3667=)
2g.73572873A>CCA427024358ALMS1c.10615A>C (p.Arg3539=)
c.3701A>C
c.7896A>C
c.5062A>C (p.Arg1688=)
c.7941A>C
c.10996A>C (p.Arg3666=)
c.1150A>C (p.Arg384=)
c.2352A>C
c.384A>C
c.2093A>C
c.4487A>C (n.4487A>C)
c.10870A>C (p.Arg3624=)
n.4799A>C
c.10999A>C (p.Arg3667=)
2g.73572873A>GCA1715099ALMS1c.10615A>G (p.Arg3539Gly)
c.3701A>G
c.7896A>G
c.5062A>G (p.Arg1688Gly)
c.7941A>G
c.10996A>G (p.Arg3666Gly)
c.1150A>G (p.Arg384Gly)
c.2352A>G
c.384A>G
c.2093A>G
c.4487A>G (n.4487A>G)
c.10870A>G (p.Arg3624Gly)
n.4799A>G
c.10999A>G (p.Arg3667Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572873A>TCA347286743ALMS1c.10615A>T (p.Arg3539Ter)
c.3701A>T
c.7896A>T
c.5062A>T (p.Arg1688Ter)
c.7941A>T
c.10996A>T (p.Arg3666Ter)
c.1150A>T (p.Arg384Ter)
c.2352A>T
c.384A>T
c.2093A>T
c.4487A>T (n.4487A>T)
c.10870A>T (p.Arg3624Ter)
n.4799A>T
c.10999A>T (p.Arg3667Ter)
2g.73572874G>ACA50386608ALMS1c.10616G>A (p.Arg3539Lys)
c.3702G>A
c.7897G>A
c.5063G>A (p.Arg1688Lys)
c.7942G>A
c.10997G>A (p.Arg3666Lys)
c.1151G>A (p.Arg384Lys)
c.2353G>A
c.385G>A
c.2094G>A
c.4488G>A (n.4488G>A)
c.10871G>A (p.Arg3624Lys)
n.4800G>A
c.11000G>A (p.Arg3667Lys)
 dbSNP
2g.73572874G>CCA347286748ALMS1c.10616G>C (p.Arg3539Thr)
c.3702G>C
c.7897G>C
c.5063G>C (p.Arg1688Thr)
c.7942G>C
c.10997G>C (p.Arg3666Thr)
c.1151G>C (p.Arg384Thr)
c.2353G>C
c.385G>C
c.2094G>C
c.4488G>C (n.4488G>C)
c.10871G>C (p.Arg3624Thr)
n.4800G>C
c.11000G>C (p.Arg3667Thr)
2g.73572874G=CA1261022072ALMS1c.10616G= (p.Arg3539=)
c.3702G=
c.7897G=
c.5063G= (p.Arg1688=)
c.7942G=
c.10997G= (p.Arg3666=)
c.1151G= (p.Arg384=)
c.2353G=
c.385G=
c.2094G=
c.4488G= (n.4488G=)
c.10871G= (p.Arg3624=)
n.4800G=
c.11000G= (p.Arg3667=)
2g.73572874G>TCA347286752ALMS1c.10616G>T (p.Arg3539Ile)
c.3702G>T
c.7897G>T
c.5063G>T (p.Arg1688Ile)
c.7942G>T
c.10997G>T (p.Arg3666Ile)
c.1151G>T (p.Arg384Ile)
c.2353G>T
c.385G>T
c.2094G>T
c.4488G>T (n.4488G>T)
c.10871G>T (p.Arg3624Ile)
n.4800G>T
c.11000G>T (p.Arg3667Ile)
2g.73572875A=CA1261022075ALMS1c.10617A= (p.Arg3539=)
c.3703A=
c.7898A=
c.5064A= (p.Arg1688=)
c.7943A=
c.10998A= (p.Arg3666=)
c.1152A= (p.Arg384=)
c.2354A=
c.386A=
c.2095A=
c.4489A= (n.4489A=)
c.10872A= (p.Arg3624=)
n.4801A=
c.11001A= (p.Arg3667=)
2g.73572875A>CCA347286754ALMS1c.10617A>C (p.Arg3539Ser)
c.3703A>C
c.7898A>C
c.5064A>C (p.Arg1688Ser)
c.7943A>C
c.10998A>C (p.Arg3666Ser)
c.1152A>C (p.Arg384Ser)
c.2354A>C
c.386A>C
c.2095A>C
c.4489A>C (n.4489A>C)
c.10872A>C (p.Arg3624Ser)
n.4801A>C
c.11001A>C (p.Arg3667Ser)
2g.73572875A>GCA427024365ALMS1c.10617A>G (p.Arg3539=)
c.3703A>G
c.7898A>G
c.5064A>G (p.Arg1688=)
c.7943A>G
c.10998A>G (p.Arg3666=)
c.1152A>G (p.Arg384=)
c.2354A>G
c.386A>G
c.2095A>G
c.4489A>G (n.4489A>G)
c.10872A>G (p.Arg3624=)
n.4801A>G
c.11001A>G (p.Arg3667=)
 dbSNP
2g.73572875A>TCA347286756ALMS1c.10617A>T (p.Arg3539Ser)
c.3703A>T
c.7898A>T
c.5064A>T (p.Arg1688Ser)
c.7943A>T
c.10998A>T (p.Arg3666Ser)
c.1152A>T (p.Arg384Ser)
c.2354A>T
c.386A>T
c.2095A>T
c.4489A>T (n.4489A>T)
c.10872A>T (p.Arg3624Ser)
n.4801A>T
c.11001A>T (p.Arg3667Ser)
2g.73572876delCA2586964960ALMS1c.10618del (p.Gln3540AsnfsTer16)
c.3704del
c.7899del
c.5065del (p.Gln1689AsnfsTer16)
c.7944del
c.10999del (p.Gln3667AsnfsTer16)
c.1153del (p.Gln385AsnfsTer16)
c.2355del
c.387del
c.2096del
c.4490del (n.4490del)
c.10873del (p.Gln3625AsnfsTer16)
n.4802del
c.11002del (p.Gln3668AsnfsTer16)
2g.73572876C>ACA347286763ALMS1c.10618C>A (p.Gln3540Lys)
c.3704C>A
c.7899C>A
c.5065C>A (p.Gln1689Lys)
c.7944C>A
c.10999C>A (p.Gln3667Lys)
c.1153C>A (p.Gln385Lys)
c.2355C>A
c.387C>A
c.2096C>A
c.4490C>A (n.4490C>A)
c.10873C>A (p.Gln3625Lys)
n.4802C>A
c.11002C>A (p.Gln3668Lys)
2g.73572876C>GCA347286765ALMS1c.10618C>G (p.Gln3540Glu)
c.3704C>G
c.7899C>G
c.5065C>G (p.Gln1689Glu)
c.7944C>G
c.10999C>G (p.Gln3667Glu)
c.1153C>G (p.Gln385Glu)
c.2355C>G
c.387C>G
c.2096C>G
c.4490C>G (n.4490C>G)
c.10873C>G (p.Gln3625Glu)
n.4802C>G
c.11002C>G (p.Gln3668Glu)
2g.73572876C>TCA347286760ALMS1c.10618C>T (p.Gln3540Ter)
c.3704C>T
c.7899C>T
c.5065C>T (p.Gln1689Ter)
c.7944C>T
c.10999C>T (p.Gln3667Ter)
c.1153C>T (p.Gln385Ter)
c.2355C>T
c.387C>T
c.2096C>T
c.4490C>T (n.4490C>T)
c.10873C>T (p.Gln3625Ter)
n.4802C>T
c.11002C>T (p.Gln3668Ter)
 ClinVar dbSNP
2g.73572877A>CCA347286770ALMS1c.10619A>C (p.Gln3540Pro)
c.3705A>C
c.7900A>C
c.5066A>C (p.Gln1689Pro)
c.7945A>C
c.11000A>C (p.Gln3667Pro)
c.1154A>C (p.Gln385Pro)
c.2356A>C
c.388A>C
c.2097A>C
c.4491A>C (n.4491A>C)
c.10874A>C (p.Gln3625Pro)
n.4803A>C
c.11003A>C (p.Gln3668Pro)
 gnomAD v4
2g.73572877A>GCA347286773ALMS1c.10619A>G (p.Gln3540Arg)
c.3705A>G
c.7900A>G
c.5066A>G (p.Gln1689Arg)
c.7945A>G
c.11000A>G (p.Gln3667Arg)
c.1154A>G (p.Gln385Arg)
c.2356A>G
c.388A>G
c.2097A>G
c.4491A>G (n.4491A>G)
c.10874A>G (p.Gln3625Arg)
n.4803A>G
c.11003A>G (p.Gln3668Arg)
2g.73572877A>TCA347286775ALMS1c.10619A>T (p.Gln3540Leu)
c.3705A>T
c.7900A>T
c.5066A>T (p.Gln1689Leu)
c.7945A>T
c.11000A>T (p.Gln3667Leu)
c.1154A>T (p.Gln385Leu)
c.2356A>T
c.388A>T
c.2097A>T
c.4491A>T (n.4491A>T)
c.10874A>T (p.Gln3625Leu)
n.4803A>T
c.11003A>T (p.Gln3668Leu)
2g.73572878A>CCA347286781ALMS1c.10620A>C (p.Gln3540His)
c.3706A>C
c.7901A>C
c.5067A>C (p.Gln1689His)
c.7946A>C
c.11001A>C (p.Gln3667His)
c.1155A>C (p.Gln385His)
c.2357A>C
c.389A>C
c.2098A>C
c.4492A>C (n.4492A>C)
c.10875A>C (p.Gln3625His)
n.4804A>C
c.11004A>C (p.Gln3668His)
2g.73572878A>GCA427024373ALMS1c.10620A>G (p.Gln3540=)
c.3706A>G
c.7901A>G
c.5067A>G (p.Gln1689=)
c.7946A>G
c.11001A>G (p.Gln3667=)
c.1155A>G (p.Gln385=)
c.2357A>G
c.389A>G
c.2098A>G
c.4492A>G (n.4492A>G)
c.10875A>G (p.Gln3625=)
n.4804A>G
c.11004A>G (p.Gln3668=)
 ClinVar gnomAD v4
2g.73572878A>TCA347286783ALMS1c.10620A>T (p.Gln3540His)
c.3706A>T
c.7901A>T
c.5067A>T (p.Gln1689His)
c.7946A>T
c.11001A>T (p.Gln3667His)
c.1155A>T (p.Gln385His)
c.2357A>T
c.389A>T
c.2098A>T
c.4492A>T (n.4492A>T)
c.10875A>T (p.Gln3625His)
n.4804A>T
c.11004A>T (p.Gln3668His)
2g.73572879delCA2659617249ALMS1c.10621del (p.Gln3541SerfsTer15)
c.3707del
c.7902del
c.5068del (p.Gln1690SerfsTer15)
c.7947del
c.11002del (p.Gln3668SerfsTer15)
c.1156del (p.Gln386SerfsTer15)
c.2358del
c.390del
c.2099del
c.4493del (n.4493del)
c.10876del (p.Gln3626SerfsTer15)
n.4805del
c.11005del (p.Gln3669SerfsTer15)
 gnomAD v4
2g.73572879C>ACA347286792ALMS1c.10621C>A (p.Gln3541Lys)
c.3707C>A
c.7902C>A
c.5068C>A (p.Gln1690Lys)
c.7947C>A
c.11002C>A (p.Gln3668Lys)
c.1156C>A (p.Gln386Lys)
c.2358C>A
c.390C>A
c.2099C>A
c.4493C>A (n.4493C>A)
c.10876C>A (p.Gln3626Lys)
n.4805C>A
c.11005C>A (p.Gln3669Lys)
2g.73572879C=CA1261022079ALMS1c.10621C= (p.Gln3541=)
c.3707C=
c.7902C=
c.5068C= (p.Gln1690=)
c.7947C=
c.11002C= (p.Gln3668=)
c.1156C= (p.Gln386=)
c.2358C=
c.390C=
c.2099C=
c.4493C= (n.4493C=)
c.10876C= (p.Gln3626=)
n.4805C=
c.11005C= (p.Gln3669=)
2g.73572879C>GCA347286790ALMS1c.10621C>G (p.Gln3541Glu)
c.3707C>G
c.7902C>G
c.5068C>G (p.Gln1690Glu)
c.7947C>G
c.11002C>G (p.Gln3668Glu)
c.1156C>G (p.Gln386Glu)
c.2358C>G
c.390C>G
c.2099C>G
c.4493C>G (n.4493C>G)
c.10876C>G (p.Gln3626Glu)
n.4805C>G
c.11005C>G (p.Gln3669Glu)
2g.73572879C>TCA1715100ALMS1c.10621C>T (p.Gln3541Ter)
c.3707C>T
c.7902C>T
c.5068C>T (p.Gln1690Ter)
c.7947C>T
c.11002C>T (p.Gln3668Ter)
c.1156C>T (p.Gln386Ter)
c.2358C>T
c.390C>T
c.2099C>T
c.4493C>T (n.4493C>T)
c.10876C>T (p.Gln3626Ter)
n.4805C>T
c.11005C>T (p.Gln3669Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572880A>CCA347286795ALMS1c.10622A>C (p.Gln3541Pro)
c.3708A>C
c.7903A>C
c.5069A>C (p.Gln1690Pro)
c.7948A>C
c.11003A>C (p.Gln3668Pro)
c.1157A>C (p.Gln386Pro)
c.2359A>C
c.391A>C
c.2100A>C
c.4494A>C (n.4494A>C)
c.10877A>C (p.Gln3626Pro)
n.4806A>C
c.11006A>C (p.Gln3669Pro)
2g.73572880A>GCA347286796ALMS1c.10622A>G (p.Gln3541Arg)
c.3708A>G
c.7903A>G
c.5069A>G (p.Gln1690Arg)
c.7948A>G
c.11003A>G (p.Gln3668Arg)
c.1157A>G (p.Gln386Arg)
c.2359A>G
c.391A>G
c.2100A>G
c.4494A>G (n.4494A>G)
c.10877A>G (p.Gln3626Arg)
n.4806A>G
c.11006A>G (p.Gln3669Arg)
2g.73572880A>TCA347286798ALMS1c.10622A>T (p.Gln3541Leu)
c.3708A>T
c.7903A>T
c.5069A>T (p.Gln1690Leu)
c.7948A>T
c.11003A>T (p.Gln3668Leu)
c.1157A>T (p.Gln386Leu)
c.2359A>T
c.391A>T
c.2100A>T
c.4494A>T (n.4494A>T)
c.10877A>T (p.Gln3626Leu)
n.4806A>T
c.11006A>T (p.Gln3669Leu)
2g.73572881G>ACA1715101ALMS1c.10623G>A (p.Gln3541=)
c.3709G>A
c.7904G>A
c.5070G>A (p.Gln1690=)
c.7949G>A
c.11004G>A (p.Gln3668=)
c.1158G>A (p.Gln386=)
c.2360G>A
c.392G>A
c.2101G>A
c.4495G>A (n.4495G>A)
c.10878G>A (p.Gln3626=)
n.4807G>A
c.11007G>A (p.Gln3669=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572881G>CCA347286807ALMS1c.10623G>C (p.Gln3541His)
c.3709G>C
c.7904G>C
c.5070G>C (p.Gln1690His)
c.7949G>C
c.11004G>C (p.Gln3668His)
c.1158G>C (p.Gln386His)
c.2360G>C
c.392G>C
c.2101G>C
c.4495G>C (n.4495G>C)
c.10878G>C (p.Gln3626His)
n.4807G>C
c.11007G>C (p.Gln3669His)
2g.73572881G=CA1261022080ALMS1c.10623G= (p.Gln3541=)
c.3709G=
c.7904G=
c.5070G= (p.Gln1690=)
c.7949G=
c.11004G= (p.Gln3668=)
c.1158G= (p.Gln386=)
c.2360G=
c.392G=
c.2101G=
c.4495G= (n.4495G=)
c.10878G= (p.Gln3626=)
n.4807G=
c.11007G= (p.Gln3669=)
2g.73572881G>TCA347286811ALMS1c.10623G>T (p.Gln3541His)
c.3709G>T
c.7904G>T
c.5070G>T (p.Gln1690His)
c.7949G>T
c.11004G>T (p.Gln3668His)
c.1158G>T (p.Gln386His)
c.2360G>T
c.392G>T
c.2101G>T
c.4495G>T (n.4495G>T)
c.10878G>T (p.Gln3626His)
n.4807G>T
c.11007G>T (p.Gln3669His)
2g.73572882C>ACA347286814ALMS1c.10624C>A (p.Gln3542Lys)
c.3710C>A
c.7905C>A
c.5071C>A (p.Gln1691Lys)
c.7950C>A
c.11005C>A (p.Gln3669Lys)
c.1159C>A (p.Gln387Lys)
c.2361C>A
c.393C>A
c.2102C>A
c.4496C>A (n.4496C>A)
c.10879C>A (p.Gln3627Lys)
n.4808C>A
c.11008C>A (p.Gln3670Lys)
2g.73572882C=CA1261022083ALMS1c.10624C= (p.Gln3542=)
c.3710C=
c.7905C=
c.5071C= (p.Gln1691=)
c.7950C=
c.11005C= (p.Gln3669=)
c.1159C= (p.Gln387=)
c.2361C=
c.393C=
c.2102C=
c.4496C= (n.4496C=)
c.10879C= (p.Gln3627=)
n.4808C=
c.11008C= (p.Gln3670=)
2g.73572882C>GCA1715102ALMS1c.10624C>G (p.Gln3542Glu)
c.3710C>G
c.7905C>G
c.5071C>G (p.Gln1691Glu)
c.7950C>G
c.11005C>G (p.Gln3669Glu)
c.1159C>G (p.Gln387Glu)
c.2361C>G
c.393C>G
c.2102C>G
c.4496C>G (n.4496C>G)
c.10879C>G (p.Gln3627Glu)
n.4808C>G
c.11008C>G (p.Gln3670Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572882C>TCA347286818ALMS1c.10624C>T (p.Gln3542Ter)
c.3710C>T
c.7905C>T
c.5071C>T (p.Gln1691Ter)
c.7950C>T
c.11005C>T (p.Gln3669Ter)
c.1159C>T (p.Gln387Ter)
c.2361C>T
c.393C>T
c.2102C>T
c.4496C>T (n.4496C>T)
c.10879C>T (p.Gln3627Ter)
n.4808C>T
c.11008C>T (p.Gln3670Ter)
2g.73572883A=CA1261022088ALMS1c.10625A= (p.Gln3542=)
c.3711A=
c.7906A=
c.5072A= (p.Gln1691=)
c.7951A=
c.11006A= (p.Gln3669=)
c.1160A= (p.Gln387=)
c.2362A=
c.394A=
c.2103A=
c.4497A= (n.4497A=)
c.10880A= (p.Gln3627=)
n.4809A=
c.11009A= (p.Gln3670=)
2g.73572883A>CCA347286823ALMS1c.10625A>C (p.Gln3542Pro)
c.3711A>C
c.7906A>C
c.5072A>C (p.Gln1691Pro)
c.7951A>C
c.11006A>C (p.Gln3669Pro)
c.1160A>C (p.Gln387Pro)
c.2362A>C
c.394A>C
c.2103A>C
c.4497A>C (n.4497A>C)
c.10880A>C (p.Gln3627Pro)
n.4809A>C
c.11009A>C (p.Gln3670Pro)
2g.73572883A>GCA1715103ALMS1c.10625A>G (p.Gln3542Arg)
c.3711A>G
c.7906A>G
c.5072A>G (p.Gln1691Arg)
c.7951A>G
c.11006A>G (p.Gln3669Arg)
c.1160A>G (p.Gln387Arg)
c.2362A>G
c.394A>G
c.2103A>G
c.4497A>G (n.4497A>G)
c.10880A>G (p.Gln3627Arg)
n.4809A>G
c.11009A>G (p.Gln3670Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572883A>TCA347286829ALMS1c.10625A>T (p.Gln3542Leu)
c.3711A>T
c.7906A>T
c.5072A>T (p.Gln1691Leu)
c.7951A>T
c.11006A>T (p.Gln3669Leu)
c.1160A>T (p.Gln387Leu)
c.2362A>T
c.394A>T
c.2103A>T
c.4497A>T (n.4497A>T)
c.10880A>T (p.Gln3627Leu)
n.4809A>T
c.11009A>T (p.Gln3670Leu)
2g.73572884G>ACA427024380ALMS1c.10626G>A (p.Gln3542=)
c.3712G>A
c.7907G>A
c.5073G>A (p.Gln1691=)
c.7952G>A
c.11007G>A (p.Gln3669=)
c.1161G>A (p.Gln387=)
c.2363G>A
c.395G>A
c.2104G>A
c.4498G>A (n.4498G>A)
c.10881G>A (p.Gln3627=)
n.4810G>A
c.11010G>A (p.Gln3670=)
2g.73572884G>CCA347286833ALMS1c.10626G>C (p.Gln3542His)
c.3712G>C
c.7907G>C
c.5073G>C (p.Gln1691His)
c.7952G>C
c.11007G>C (p.Gln3669His)
c.1161G>C (p.Gln387His)
c.2363G>C
c.395G>C
c.2104G>C
c.4498G>C (n.4498G>C)
c.10881G>C (p.Gln3627His)
n.4810G>C
c.11010G>C (p.Gln3670His)
2g.73572884G>TCA347286834ALMS1c.10626G>T (p.Gln3542His)
c.3712G>T
c.7907G>T
c.5073G>T (p.Gln1691His)
c.7952G>T
c.11007G>T (p.Gln3669His)
c.1161G>T (p.Gln387His)
c.2363G>T
c.395G>T
c.2104G>T
c.4498G>T (n.4498G>T)
c.10881G>T (p.Gln3627His)
n.4810G>T
c.11010G>T (p.Gln3670His)
2g.73572885A>CCA427024385ALMS1c.10627A>C (p.Arg3543=)
c.3713A>C
c.7908A>C
c.5074A>C (p.Arg1692=)
c.7953A>C
c.11008A>C (p.Arg3670=)
c.1162A>C (p.Arg388=)
c.2364A>C
c.396A>C
c.2105A>C
c.4499A>C (n.4499A>C)
c.10882A>C (p.Arg3628=)
n.4811A>C
c.11011A>C (p.Arg3671=)
2g.73572885A>GCA347286839ALMS1c.10627A>G (p.Arg3543Gly)
c.3713A>G
c.7908A>G
c.5074A>G (p.Arg1692Gly)
c.7953A>G
c.11008A>G (p.Arg3670Gly)
c.1162A>G (p.Arg388Gly)
c.2364A>G
c.396A>G
c.2105A>G
c.4499A>G (n.4499A>G)
c.10882A>G (p.Arg3628Gly)
n.4811A>G
c.11011A>G (p.Arg3671Gly)
2g.73572885A>TCA347286841ALMS1c.10627A>T (p.Arg3543Ter)
c.3713A>T
c.7908A>T
c.5074A>T (p.Arg1692Ter)
c.7953A>T
c.11008A>T (p.Arg3670Ter)
c.1162A>T (p.Arg388Ter)
c.2364A>T
c.396A>T
c.2105A>T
c.4499A>T (n.4499A>T)
c.10882A>T (p.Arg3628Ter)
n.4811A>T
c.11011A>T (p.Arg3671Ter)
2g.73572886G>ACA347286845ALMS1c.10628G>A (p.Arg3543Lys)
c.3714G>A
c.7909G>A
c.5075G>A (p.Arg1692Lys)
c.7954G>A
c.11009G>A (p.Arg3670Lys)
c.1163G>A (p.Arg388Lys)
c.2365G>A
c.397G>A
c.2106G>A
c.4500G>A (n.4500G>A)
c.10883G>A (p.Arg3628Lys)
n.4812G>A
c.11012G>A (p.Arg3671Lys)
2g.73572886G>CCA347286847ALMS1c.10628G>C (p.Arg3543Thr)
c.3714G>C
c.7909G>C
c.5075G>C (p.Arg1692Thr)
c.7954G>C
c.11009G>C (p.Arg3670Thr)
c.1163G>C (p.Arg388Thr)
c.2365G>C
c.397G>C
c.2106G>C
c.4500G>C (n.4500G>C)
c.10883G>C (p.Arg3628Thr)
n.4812G>C
c.11012G>C (p.Arg3671Thr)
 ClinVar dbSNP
2g.73572886G=CA1261022092ALMS1c.10628G= (p.Arg3543=)
c.3714G=
c.7909G=
c.5075G= (p.Arg1692=)
c.7954G=
c.11009G= (p.Arg3670=)
c.1163G= (p.Arg388=)
c.2365G=
c.397G=
c.2106G=
c.4500G= (n.4500G=)
c.10883G= (p.Arg3628=)
n.4812G=
c.11012G= (p.Arg3671=)
2g.73572886G>TCA347286850ALMS1c.10628G>T (p.Arg3543Ile)
c.3714G>T
c.7909G>T
c.5075G>T (p.Arg1692Ile)
c.7954G>T
c.11009G>T (p.Arg3670Ile)
c.1163G>T (p.Arg388Ile)
c.2365G>T
c.397G>T
c.2106G>T
c.4500G>T (n.4500G>T)
c.10883G>T (p.Arg3628Ile)
n.4812G>T
c.11012G>T (p.Arg3671Ile)
 gnomAD v4
2g.73572887A>CCA347286853ALMS1c.10629A>C (p.Arg3543Ser)
c.3715A>C
c.7910A>C
c.5076A>C (p.Arg1692Ser)
c.7955A>C
c.11010A>C (p.Arg3670Ser)
c.1164A>C (p.Arg388Ser)
c.2366A>C
c.398A>C
c.2107A>C
c.4501A>C (n.4501A>C)
c.10884A>C (p.Arg3628Ser)
n.4813A>C
c.11013A>C (p.Arg3671Ser)
2g.73572887A>GCA427024392ALMS1c.10629A>G (p.Arg3543=)
c.3715A>G
c.7910A>G
c.5076A>G (p.Arg1692=)
c.7955A>G
c.11010A>G (p.Arg3670=)
c.1164A>G (p.Arg388=)
c.2366A>G
c.398A>G
c.2107A>G
c.4501A>G (n.4501A>G)
c.10884A>G (p.Arg3628=)
n.4813A>G
c.11013A>G (p.Arg3671=)
2g.73572887A>TCA347286856ALMS1c.10629A>T (p.Arg3543Ser)
c.3715A>T
c.7910A>T
c.5076A>T (p.Arg1692Ser)
c.7955A>T
c.11010A>T (p.Arg3670Ser)
c.1164A>T (p.Arg388Ser)
c.2366A>T
c.398A>T
c.2107A>T
c.4501A>T (n.4501A>T)
c.10884A>T (p.Arg3628Ser)
n.4813A>T
c.11013A>T (p.Arg3671Ser)
 gnomAD v4
2g.73572889delCA2586964962ALMS1c.10631del (p.Asn3544IlefsTer12)
c.3717del
c.7912del
c.5078del (p.Asn1693IlefsTer12)
c.7957del
c.11012del (p.Asn3671IlefsTer12)
c.1166del (p.Asn389IlefsTer12)
c.2368del
c.400del
c.2109del
c.4503del (n.4503del)
c.10886del (p.Asn3629IlefsTer12)
n.4815del
c.11015del (p.Asn3672IlefsTer12)
2g.73572888A=CA1261022095ALMS1c.10630A= (p.Asn3544=)
c.3716A=
c.7911A=
c.5077A= (p.Asn1693=)
c.7956A=
c.11011A= (p.Asn3671=)
c.1165A= (p.Asn389=)
c.2367A=
c.399A=
c.2108A=
c.4502A= (n.4502A=)
c.10885A= (p.Asn3629=)
n.4814A=
c.11014A= (p.Asn3672=)
2g.73572888A>CCA347286861ALMS1c.10630A>C (p.Asn3544His)
c.3716A>C
c.7911A>C
c.5077A>C (p.Asn1693His)
c.7956A>C
c.11011A>C (p.Asn3671His)
c.1165A>C (p.Asn389His)
c.2367A>C
c.399A>C
c.2108A>C
c.4502A>C (n.4502A>C)
c.10885A>C (p.Asn3629His)
n.4814A>C
c.11014A>C (p.Asn3672His)
2g.73572888A>GCA347286864ALMS1c.10630A>G (p.Asn3544Asp)
c.3716A>G
c.7911A>G
c.5077A>G (p.Asn1693Asp)
c.7956A>G
c.11011A>G (p.Asn3671Asp)
c.1165A>G (p.Asn389Asp)
c.2367A>G
c.399A>G
c.2108A>G
c.4502A>G (n.4502A>G)
c.10885A>G (p.Asn3629Asp)
n.4814A>G
c.11014A>G (p.Asn3672Asp)
2g.73572888A>TCA347286858ALMS1c.10630A>T (p.Asn3544Tyr)
c.3716A>T
c.7911A>T
c.5077A>T (p.Asn1693Tyr)
c.7956A>T
c.11011A>T (p.Asn3671Tyr)
c.1165A>T (p.Asn389Tyr)
c.2367A>T
c.399A>T
c.2108A>T
c.4502A>T (n.4502A>T)
c.10885A>T (p.Asn3629Tyr)
n.4814A>T
c.11014A>T (p.Asn3672Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.73572889A>CCA347286870ALMS1c.10631A>C (p.Asn3544Thr)
c.3717A>C
c.7912A>C
c.5078A>C (p.Asn1693Thr)
c.7957A>C
c.11012A>C (p.Asn3671Thr)
c.1166A>C (p.Asn389Thr)
c.2368A>C
c.400A>C
c.2109A>C
c.4503A>C (n.4503A>C)
c.10886A>C (p.Asn3629Thr)
n.4815A>C
c.11015A>C (p.Asn3672Thr)
2g.73572889A>GCA347286867ALMS1c.10631A>G (p.Asn3544Ser)
c.3717A>G
c.7912A>G
c.5078A>G (p.Asn1693Ser)
c.7957A>G
c.11012A>G (p.Asn3671Ser)
c.1166A>G (p.Asn389Ser)
c.2368A>G
c.400A>G
c.2109A>G
c.4503A>G (n.4503A>G)
c.10886A>G (p.Asn3629Ser)
n.4815A>G
c.11015A>G (p.Asn3672Ser)
 gnomAD v4
2g.73572889A>TCA347286874ALMS1c.10631A>T (p.Asn3544Ile)
c.3717A>T
c.7912A>T
c.5078A>T (p.Asn1693Ile)
c.7957A>T
c.11012A>T (p.Asn3671Ile)
c.1166A>T (p.Asn389Ile)
c.2368A>T
c.400A>T
c.2109A>T
c.4503A>T (n.4503A>T)
c.10886A>T (p.Asn3629Ile)
n.4815A>T
c.11015A>T (p.Asn3672Ile)
2g.73572890T>ACA347286878ALMS1c.10632T>A (p.Asn3544Lys)
c.3718T>A
c.7913T>A
c.5079T>A (p.Asn1693Lys)
c.7958T>A
c.11013T>A (p.Asn3671Lys)
c.1167T>A (p.Asn389Lys)
c.2369T>A
c.401T>A
c.2110T>A
c.4504T>A (n.4504T>A)
c.10887T>A (p.Asn3629Lys)
n.4816T>A
c.11016T>A (p.Asn3672Lys)
2g.73572890T>CCA427024400ALMS1c.10632T>C (p.Asn3544=)
c.3718T>C
c.7913T>C
c.5079T>C (p.Asn1693=)
c.7958T>C
c.11013T>C (p.Asn3671=)
c.1167T>C (p.Asn389=)
c.2369T>C
c.401T>C
c.2110T>C
c.4504T>C (n.4504T>C)
c.10887T>C (p.Asn3629=)
n.4816T>C
c.11016T>C (p.Asn3672=)
2g.73572890T>GCA347286881ALMS1c.10632T>G (p.Asn3544Lys)
c.3718T>G
c.7913T>G
c.5079T>G (p.Asn1693Lys)
c.7958T>G
c.11013T>G (p.Asn3671Lys)
c.1167T>G (p.Asn389Lys)
c.2369T>G
c.401T>G
c.2110T>G
c.4504T>G (n.4504T>G)
c.10887T>G (p.Asn3629Lys)
n.4816T>G
c.11016T>G (p.Asn3672Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.73572890T=CA1261022097ALMS1c.10632T= (p.Asn3544=)
c.3718T=
c.7913T=
c.5079T= (p.Asn1693=)
c.7958T=
c.11013T= (p.Asn3671=)
c.1167T= (p.Asn389=)
c.2369T=
c.401T=
c.2110T=
c.4504T= (n.4504T=)
c.10887T= (p.Asn3629=)
n.4816T=
c.11016T= (p.Asn3672=)
2g.73572891A>CCA347286885ALMS1c.10633A>C (p.Lys3545Gln)
c.3719A>C
c.7914A>C
c.5080A>C (p.Lys1694Gln)
c.7959A>C
c.11014A>C (p.Lys3672Gln)
c.1168A>C (p.Lys390Gln)
c.2370A>C
c.402A>C
c.2111A>C
c.4505A>C (n.4505A>C)
c.10888A>C (p.Lys3630Gln)
n.4817A>C
c.11017A>C (p.Lys3673Gln)
2g.73572891A>GCA347286889ALMS1c.10633A>G (p.Lys3545Glu)
c.3719A>G
c.7914A>G
c.5080A>G (p.Lys1694Glu)
c.7959A>G
c.11014A>G (p.Lys3672Glu)
c.1168A>G (p.Lys390Glu)
c.2370A>G
c.402A>G
c.2111A>G
c.4505A>G (n.4505A>G)
c.10888A>G (p.Lys3630Glu)
n.4817A>G
c.11017A>G (p.Lys3673Glu)
2g.73572891A>TCA347286892ALMS1c.10633A>T (p.Lys3545Ter)
c.3719A>T
c.7914A>T
c.5080A>T (p.Lys1694Ter)
c.7959A>T
c.11014A>T (p.Lys3672Ter)
c.1168A>T (p.Lys390Ter)
c.2370A>T
c.402A>T
c.2111A>T
c.4505A>T (n.4505A>T)
c.10888A>T (p.Lys3630Ter)
n.4817A>T
c.11017A>T (p.Lys3673Ter)
 gnomAD v4
2g.73572892A>CCA347286897ALMS1c.10634A>C (p.Lys3545Thr)
c.3720A>C
c.7915A>C
c.5081A>C (p.Lys1694Thr)
c.7960A>C
c.11015A>C (p.Lys3672Thr)
c.1169A>C (p.Lys390Thr)
c.2371A>C
c.403A>C
c.2112A>C
c.4506A>C (n.4506A>C)
c.10889A>C (p.Lys3630Thr)
n.4818A>C
c.11018A>C (p.Lys3673Thr)
2g.73572892A>GCA347286904ALMS1c.10634A>G (p.Lys3545Arg)
c.3720A>G
c.7915A>G
c.5081A>G (p.Lys1694Arg)
c.7960A>G
c.11015A>G (p.Lys3672Arg)
c.1169A>G (p.Lys390Arg)
c.2371A>G
c.403A>G
c.2112A>G
c.4506A>G (n.4506A>G)
c.10889A>G (p.Lys3630Arg)
n.4818A>G
c.11018A>G (p.Lys3673Arg)
2g.73572892A>TCA347286905ALMS1c.10634A>T (p.Lys3545Met)
c.3720A>T
c.7915A>T
c.5081A>T (p.Lys1694Met)
c.7960A>T
c.11015A>T (p.Lys3672Met)
c.1169A>T (p.Lys390Met)
c.2371A>T
c.403A>T
c.2112A>T
c.4506A>T (n.4506A>T)
c.10889A>T (p.Lys3630Met)
n.4818A>T
c.11018A>T (p.Lys3673Met)
2g.73572893G>ACA427024410ALMS1c.10635G>A (p.Lys3545=)
c.3721G>A
c.7916G>A
c.5082G>A (p.Lys1694=)
c.7961G>A
c.11016G>A (p.Lys3672=)
c.1170G>A (p.Lys390=)
c.2372G>A
c.404G>A
c.2113G>A
c.4507G>A (n.4507G>A)
c.10890G>A (p.Lys3630=)
n.4819G>A
c.11019G>A (p.Lys3673=)
 dbSNP gnomAD v4
2g.73572893G>CCA347286908ALMS1c.10635G>C (p.Lys3545Asn)
c.3721G>C
c.7916G>C
c.5082G>C (p.Lys1694Asn)
c.7961G>C
c.11016G>C (p.Lys3672Asn)
c.1170G>C (p.Lys390Asn)
c.2372G>C
c.404G>C
c.2113G>C
c.4507G>C (n.4507G>C)
c.10890G>C (p.Lys3630Asn)
n.4819G>C
c.11019G>C (p.Lys3673Asn)
2g.73572893G>TCA347286910ALMS1c.10635G>T (p.Lys3545Asn)
c.3721G>T
c.7916G>T
c.5082G>T (p.Lys1694Asn)
c.7961G>T
c.11016G>T (p.Lys3672Asn)
c.1170G>T (p.Lys390Asn)
c.2372G>T
c.404G>T
c.2113G>T
c.4507G>T (n.4507G>T)
c.10890G>T (p.Lys3630Asn)
n.4819G>T
c.11019G>T (p.Lys3673Asn)
2g.73572894C>ACA240750ALMS1c.10636C>A (p.Leu3546Ile)
c.3722C>A
c.7917C>A
c.5083C>A (p.Leu1695Ile)
c.7962C>A
c.11017C>A (p.Leu3673Ile)
c.1171C>A (p.Leu391Ile)
c.2373C>A
c.405C>A
c.2114C>A
c.4508C>A (n.4508C>A)
c.10891C>A (p.Leu3631Ile)
n.4820C>A
c.11020C>A (p.Leu3674Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572894C=CA1261022098ALMS1c.10636C= (p.Leu3546=)
c.3722C=
c.7917C=
c.5083C= (p.Leu1695=)
c.7962C=
c.11017C= (p.Leu3673=)
c.1171C= (p.Leu391=)
c.2373C=
c.405C=
c.2114C=
c.4508C= (n.4508C=)
c.10891C= (p.Leu3631=)
n.4820C=
c.11020C= (p.Leu3674=)
2g.73572894C>GCA347286915ALMS1c.10636C>G (p.Leu3546Val)
c.3722C>G
c.7917C>G
c.5083C>G (p.Leu1695Val)
c.7962C>G
c.11017C>G (p.Leu3673Val)
c.1171C>G (p.Leu391Val)
c.2373C>G
c.405C>G
c.2114C>G
c.4508C>G (n.4508C>G)
c.10891C>G (p.Leu3631Val)
n.4820C>G
c.11020C>G (p.Leu3674Val)
2g.73572894C>TCA347286918ALMS1c.10636C>T (p.Leu3546Phe)
c.3722C>T
c.7917C>T
c.5083C>T (p.Leu1695Phe)
c.7962C>T
c.11017C>T (p.Leu3673Phe)
c.1171C>T (p.Leu391Phe)
c.2373C>T
c.405C>T
c.2114C>T
c.4508C>T (n.4508C>T)
c.10891C>T (p.Leu3631Phe)
n.4820C>T
c.11020C>T (p.Leu3674Phe)
 dbSNP
2g.73572895T>ACA347286926ALMS1c.10637T>A (p.Leu3546His)
c.3723T>A
c.7918T>A
c.5084T>A (p.Leu1695His)
c.7963T>A
c.11018T>A (p.Leu3673His)
c.1172T>A (p.Leu391His)
c.2374T>A
c.406T>A
c.2115T>A
c.4509T>A (n.4509T>A)
c.10892T>A (p.Leu3631His)
n.4821T>A
c.11021T>A (p.Leu3674His)
2g.73572895T>CCA347286922ALMS1c.10637T>C (p.Leu3546Pro)
c.3723T>C
c.7918T>C
c.5084T>C (p.Leu1695Pro)
c.7963T>C
c.11018T>C (p.Leu3673Pro)
c.1172T>C (p.Leu391Pro)
c.2374T>C
c.406T>C
c.2115T>C
c.4509T>C (n.4509T>C)
c.10892T>C (p.Leu3631Pro)
n.4821T>C
c.11021T>C (p.Leu3674Pro)
2g.73572895T>GCA347286924ALMS1c.10637T>G (p.Leu3546Arg)
c.3723T>G
c.7918T>G
c.5084T>G (p.Leu1695Arg)
c.7963T>G
c.11018T>G (p.Leu3673Arg)
c.1172T>G (p.Leu391Arg)
c.2374T>G
c.406T>G
c.2115T>G
c.4509T>G (n.4509T>G)
c.10892T>G (p.Leu3631Arg)
n.4821T>G
c.11021T>G (p.Leu3674Arg)
2g.73572896T>ACA427024424ALMS1c.10638T>A (p.Leu3546=)
c.3724T>A
c.7919T>A
c.5085T>A (p.Leu1695=)
c.7964T>A
c.11019T>A (p.Leu3673=)
c.1173T>A (p.Leu391=)
c.2375T>A
c.407T>A
c.2116T>A
c.4510T>A (n.4510T>A)
c.10893T>A (p.Leu3631=)
n.4822T>A
c.11022T>A (p.Leu3674=)
2g.73572896T>CCA427024425ALMS1c.10638T>C (p.Leu3546=)
c.3724T>C
c.7919T>C
c.5085T>C (p.Leu1695=)
c.7964T>C
c.11019T>C (p.Leu3673=)
c.1173T>C (p.Leu391=)
c.2375T>C
c.407T>C
c.2116T>C
c.4510T>C (n.4510T>C)
c.10893T>C (p.Leu3631=)
n.4822T>C
c.11022T>C (p.Leu3674=)
2g.73572896T>GCA427024426ALMS1c.10638T>G (p.Leu3546=)
c.3724T>G
c.7919T>G
c.5085T>G (p.Leu1695=)
c.7964T>G
c.11019T>G (p.Leu3673=)
c.1173T>G (p.Leu391=)
c.2375T>G
c.407T>G
c.2116T>G
c.4510T>G (n.4510T>G)
c.10893T>G (p.Leu3631=)
n.4822T>G
c.11022T>G (p.Leu3674=)
2g.73572897C>ACA347286934ALMS1c.10639C>A (p.Gln3547Lys)
c.3725C>A
c.7920C>A
c.5086C>A (p.Gln1696Lys)
c.7965C>A
c.11020C>A (p.Gln3674Lys)
c.1174C>A (p.Gln392Lys)
c.2376C>A
c.408C>A
c.2117C>A
c.4511C>A (n.4511C>A)
c.10894C>A (p.Gln3632Lys)
n.4823C>A
c.11023C>A (p.Gln3675Lys)
2g.73572897C>GCA347286936ALMS1c.10639C>G (p.Gln3547Glu)
c.3725C>G
c.7920C>G
c.5086C>G (p.Gln1696Glu)
c.7965C>G
c.11020C>G (p.Gln3674Glu)
c.1174C>G (p.Gln392Glu)
c.2376C>G
c.408C>G
c.2117C>G
c.4511C>G (n.4511C>G)
c.10894C>G (p.Gln3632Glu)
n.4823C>G
c.11023C>G (p.Gln3675Glu)
2g.73572897C>TCA347286938ALMS1c.10639C>T (p.Gln3547Ter)
c.3725C>T
c.7920C>T
c.5086C>T (p.Gln1696Ter)
c.7965C>T
c.11020C>T (p.Gln3674Ter)
c.1174C>T (p.Gln392Ter)
c.2376C>T
c.408C>T
c.2117C>T
c.4511C>T (n.4511C>T)
c.10894C>T (p.Gln3632Ter)
n.4823C>T
c.11023C>T (p.Gln3675Ter)
2g.73572898A>CCA347286941ALMS1c.10640A>C (p.Gln3547Pro)
c.3726A>C
c.7921A>C
c.5087A>C (p.Gln1696Pro)
c.7966A>C
c.11021A>C (p.Gln3674Pro)
c.1175A>C (p.Gln392Pro)
c.2377A>C
c.409A>C
c.2118A>C
c.4512A>C (n.4512A>C)
c.10895A>C (p.Gln3632Pro)
n.4824A>C
c.11024A>C (p.Gln3675Pro)
2g.73572898A>GCA347286944ALMS1c.10640A>G (p.Gln3547Arg)
c.3726A>G
c.7921A>G
c.5087A>G (p.Gln1696Arg)
c.7966A>G
c.11021A>G (p.Gln3674Arg)
c.1175A>G (p.Gln392Arg)
c.2377A>G
c.409A>G
c.2118A>G
c.4512A>G (n.4512A>G)
c.10895A>G (p.Gln3632Arg)
n.4824A>G
c.11024A>G (p.Gln3675Arg)
2g.73572898A>TCA347286946ALMS1c.10640A>T (p.Gln3547Leu)
c.3726A>T
c.7921A>T
c.5087A>T (p.Gln1696Leu)
c.7966A>T
c.11021A>T (p.Gln3674Leu)
c.1175A>T (p.Gln392Leu)
c.2377A>T
c.409A>T
c.2118A>T
c.4512A>T (n.4512A>T)
c.10895A>T (p.Gln3632Leu)
n.4824A>T
c.11024A>T (p.Gln3675Leu)
2g.73572899G>ACA427024430ALMS1c.10641G>A (p.Gln3547=)
c.3727G>A
c.7922G>A
c.5088G>A (p.Gln1696=)
c.7967G>A
c.11022G>A (p.Gln3674=)
c.1176G>A (p.Gln392=)
c.2378G>A
c.410G>A
c.2119G>A
c.4513G>A (n.4513G>A)
c.10896G>A (p.Gln3632=)
n.4825G>A
c.11025G>A (p.Gln3675=)
2g.73572899G>CCA347286949ALMS1c.10641G>C (p.Gln3547His)
c.3727G>C
c.7922G>C
c.5088G>C (p.Gln1696His)
c.7967G>C
c.11022G>C (p.Gln3674His)
c.1176G>C (p.Gln392His)
c.2378G>C
c.410G>C
c.2119G>C
c.4513G>C (n.4513G>C)
c.10896G>C (p.Gln3632His)
n.4825G>C
c.11025G>C (p.Gln3675His)
2g.73572899G>TCA347286952ALMS1c.10641G>T (p.Gln3547His)
c.3727G>T
c.7922G>T
c.5088G>T (p.Gln1696His)
c.7967G>T
c.11022G>T (p.Gln3674His)
c.1176G>T (p.Gln392His)
c.2378G>T
c.410G>T
c.2119G>T
c.4513G>T (n.4513G>T)
c.10896G>T (p.Gln3632His)
n.4825G>T
c.11025G>T (p.Gln3675His)
2g.73572900A>CCA347286954ALMS1c.10642A>C (p.Lys3548Gln)
c.3728A>C
c.7923A>C
c.5089A>C (p.Lys1697Gln)
c.7968A>C
c.11023A>C (p.Lys3675Gln)
c.1177A>C (p.Lys393Gln)
c.2379A>C
c.411A>C
c.2120A>C
c.4514A>C (n.4514A>C)
c.10897A>C (p.Lys3633Gln)
n.4826A>C
c.11026A>C (p.Lys3676Gln)
2g.73572900A>GCA347286956ALMS1c.10642A>G (p.Lys3548Glu)
c.3728A>G
c.7923A>G
c.5089A>G (p.Lys1697Glu)
c.7968A>G
c.11023A>G (p.Lys3675Glu)
c.1177A>G (p.Lys393Glu)
c.2379A>G
c.411A>G
c.2120A>G
c.4514A>G (n.4514A>G)
c.10897A>G (p.Lys3633Glu)
n.4826A>G
c.11026A>G (p.Lys3676Glu)
2g.73572900A>TCA347286958ALMS1c.10642A>T (p.Lys3548Ter)
c.3728A>T
c.7923A>T
c.5089A>T (p.Lys1697Ter)
c.7968A>T
c.11023A>T (p.Lys3675Ter)
c.1177A>T (p.Lys393Ter)
c.2379A>T
c.411A>T
c.2120A>T
c.4514A>T (n.4514A>T)
c.10897A>T (p.Lys3633Ter)
n.4826A>T
c.11026A>T (p.Lys3676Ter)
2g.73572901A>CCA347286967ALMS1c.10643A>C (p.Lys3548Thr)
c.3729A>C
c.7924A>C
c.5090A>C (p.Lys1697Thr)
c.7969A>C
c.11024A>C (p.Lys3675Thr)
c.1178A>C (p.Lys393Thr)
c.2380A>C
c.412A>C
c.2121A>C
c.4515A>C (n.4515A>C)
c.10898A>C (p.Lys3633Thr)
n.4827A>C
c.11027A>C (p.Lys3676Thr)
2g.73572901A>GCA347286965ALMS1c.10643A>G (p.Lys3548Arg)
c.3729A>G
c.7924A>G
c.5090A>G (p.Lys1697Arg)
c.7969A>G
c.11024A>G (p.Lys3675Arg)
c.1178A>G (p.Lys393Arg)
c.2380A>G
c.412A>G
c.2121A>G
c.4515A>G (n.4515A>G)
c.10898A>G (p.Lys3633Arg)
n.4827A>G
c.11027A>G (p.Lys3676Arg)
2g.73572901A>TCA347286961ALMS1c.10643A>T (p.Lys3548Ile)
c.3729A>T
c.7924A>T
c.5090A>T (p.Lys1697Ile)
c.7969A>T
c.11024A>T (p.Lys3675Ile)
c.1178A>T (p.Lys393Ile)
c.2380A>T
c.412A>T
c.2121A>T
c.4515A>T (n.4515A>T)
c.10898A>T (p.Lys3633Ile)
n.4827A>T
c.11027A>T (p.Lys3676Ile)
2g.73572902A>CCA347286968ALMS1c.10644A>C (p.Lys3548Asn)
c.3730A>C
c.7925A>C
c.5091A>C (p.Lys1697Asn)
c.7970A>C
c.11025A>C (p.Lys3675Asn)
c.1179A>C (p.Lys393Asn)
c.2381A>C
c.413A>C
c.2122A>C
c.4516A>C (n.4516A>C)
c.10899A>C (p.Lys3633Asn)
n.4828A>C
c.11028A>C (p.Lys3676Asn)
2g.73572902A>GCA427024438ALMS1c.10644A>G (p.Lys3548=)
c.3730A>G
c.7925A>G
c.5091A>G (p.Lys1697=)
c.7970A>G
c.11025A>G (p.Lys3675=)
c.1179A>G (p.Lys393=)
c.2381A>G
c.413A>G
c.2122A>G
c.4516A>G (n.4516A>G)
c.10899A>G (p.Lys3633=)
n.4828A>G
c.11028A>G (p.Lys3676=)
 ClinVar dbSNP
2g.73572902A>TCA347286970ALMS1c.10644A>T (p.Lys3548Asn)
c.3730A>T
c.7925A>T
c.5091A>T (p.Lys1697Asn)
c.7970A>T
c.11025A>T (p.Lys3675Asn)
c.1179A>T (p.Lys393Asn)
c.2381A>T
c.413A>T
c.2122A>T
c.4516A>T (n.4516A>T)
c.10899A>T (p.Lys3633Asn)
n.4828A>T
c.11028A>T (p.Lys3676Asn)
2g.73572902_73572905delinsAAAGCA1261022099ALMS1c.10644_10647delinsAAAG (p.Lys3548=)
c.3730_3733delinsAAAG
c.7925_7928delinsAAAG
c.5091_5094delinsAAAG (p.Lys1697=)
c.7970_7973delinsAAAG
c.11025_11028delinsAAAG (p.Lys3675=)
c.1179_1182delinsAAAG (p.Lys393=)
c.2381_2384delinsAAAG
c.413_416delinsAAAG
c.2122_2125delinsAAAG
c.4516_4519delinsAAAG (n.4516_4519delinsAAAG)
c.10899_10902delinsAAAG (p.Lys3633=)
n.4828_4831delinsAAAG
c.11028_11031delinsAAAG (p.Lys3676=)
2g.73572903A>CCA347286974ALMS1c.10645A>C (p.Lys3549Gln)
c.3731A>C
c.7926A>C
c.5092A>C (p.Lys1698Gln)
c.7971A>C
c.11026A>C (p.Lys3676Gln)
c.1180A>C (p.Lys394Gln)
c.2382A>C
c.414A>C
c.2123A>C
c.4517A>C (n.4517A>C)
c.10900A>C (p.Lys3634Gln)
n.4829A>C
c.11029A>C (p.Lys3677Gln)
2g.73572903A>GCA347286977ALMS1c.10645A>G (p.Lys3549Glu)
c.3731A>G
c.7926A>G
c.5092A>G (p.Lys1698Glu)
c.7971A>G
c.11026A>G (p.Lys3676Glu)
c.1180A>G (p.Lys394Glu)
c.2382A>G
c.414A>G
c.2123A>G
c.4517A>G (n.4517A>G)
c.10900A>G (p.Lys3634Glu)
n.4829A>G
c.11029A>G (p.Lys3677Glu)
2g.73572903A>TCA347286978ALMS1c.10645A>T (p.Lys3549Ter)
c.3731A>T
c.7926A>T
c.5092A>T (p.Lys1698Ter)
c.7971A>T
c.11026A>T (p.Lys3676Ter)
c.1180A>T (p.Lys394Ter)
c.2382A>T
c.414A>T
c.2123A>T
c.4517A>T (n.4517A>T)
c.10900A>T (p.Lys3634Ter)
n.4829A>T
c.11029A>T (p.Lys3677Ter)
2g.73572903_73572905delinsAAGCA1261022101ALMS1c.10645_10647delinsAAG (p.Lys3549=)
c.3731_3733delinsAAG
c.7926_7928delinsAAG
c.5092_5094delinsAAG (p.Lys1698=)
c.7971_7973delinsAAG
c.11026_11028delinsAAG (p.Lys3676=)
c.1180_1182delinsAAG (p.Lys394=)
c.2382_2384delinsAAG
c.414_416delinsAAG
c.2123_2125delinsAAG
c.4517_4519delinsAAG (n.4517_4519delinsAAG)
c.10900_10902delinsAAG (p.Lys3634=)
n.4829_4831delinsAAG
c.11029_11031delinsAAG (p.Lys3677=)
2g.73572906_73572908delCA1261022100ALMS1c.10648_10650del (p.Lys3550del)
c.3734_3736del
c.7929_7931del
c.5095_5097del (p.Lys1699del)
c.7974_7976del
c.11029_11031del (p.Lys3677del)
c.1183_1185del (p.Lys395del)
c.2385_2387del
c.417_419del
c.2126_2128del
c.4520_4522del (n.4520_4522del)
c.10903_10905del (p.Lys3635del)
n.4832_4834del
c.11032_11034del (p.Lys3678del)
 dbSNP
2g.73572904A=CA1261022102ALMS1c.10646A= (p.Lys3549=)
c.3732A=
c.7927A=
c.5093A= (p.Lys1698=)
c.7972A=
c.11027A= (p.Lys3676=)
c.1181A= (p.Lys394=)
c.2383A=
c.415A=
c.2124A=
c.4518A= (n.4518A=)
c.10901A= (p.Lys3634=)
n.4830A=
c.11030A= (p.Lys3677=)
2g.73572904A>CCA347286982ALMS1c.10646A>C (p.Lys3549Thr)
c.3732A>C
c.7927A>C
c.5093A>C (p.Lys1698Thr)
c.7972A>C
c.11027A>C (p.Lys3676Thr)
c.1181A>C (p.Lys394Thr)
c.2383A>C
c.415A>C
c.2124A>C
c.4518A>C (n.4518A>C)
c.10901A>C (p.Lys3634Thr)
n.4830A>C
c.11030A>C (p.Lys3677Thr)
2g.73572904A>GCA347286985ALMS1c.10646A>G (p.Lys3549Arg)
c.3732A>G
c.7927A>G
c.5093A>G (p.Lys1698Arg)
c.7972A>G
c.11027A>G (p.Lys3676Arg)
c.1181A>G (p.Lys394Arg)
c.2383A>G
c.415A>G
c.2124A>G
c.4518A>G (n.4518A>G)
c.10901A>G (p.Lys3634Arg)
n.4830A>G
c.11030A>G (p.Lys3677Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.73572904A>TCA347286989ALMS1c.10646A>T (p.Lys3549Met)
c.3732A>T
c.7927A>T
c.5093A>T (p.Lys1698Met)
c.7972A>T
c.11027A>T (p.Lys3676Met)
c.1181A>T (p.Lys394Met)
c.2383A>T
c.415A>T
c.2124A>T
c.4518A>T (n.4518A>T)
c.10901A>T (p.Lys3634Met)
n.4830A>T
c.11030A>T (p.Lys3677Met)
2g.73572905_73572906delCA1261022104ALMS1c.10647_10648del (p.Lys3550AlafsTer3)
c.3733_3734del
c.7928_7929del
c.5094_5095del (p.Lys1699AlafsTer3)
c.7973_7974del
c.11028_11029del (p.Lys3677AlafsTer3)
c.1182_1183del (p.Lys395AlafsTer3)
c.2384_2385del
c.416_417del
c.2125_2126del
c.4519_4520del (n.4519_4520del)
c.10902_10903del (p.Lys3635AlafsTer3)
n.4831_4832del
c.11031_11032del (p.Lys3678AlafsTer3)
 dbSNP
2g.73572905G>ACA427024449ALMS1c.10647G>A (p.Lys3549=)
c.3733G>A
c.7928G>A
c.5094G>A (p.Lys1698=)
c.7973G>A
c.11028G>A (p.Lys3676=)
c.1182G>A (p.Lys394=)
c.2384G>A
c.416G>A
c.2125G>A
c.4519G>A (n.4519G>A)
c.10902G>A (p.Lys3634=)
n.4831G>A
c.11031G>A (p.Lys3677=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572905G>CCA347286993ALMS1c.10647G>C (p.Lys3549Asn)
c.3733G>C
c.7928G>C
c.5094G>C (p.Lys1698Asn)
c.7973G>C
c.11028G>C (p.Lys3676Asn)
c.1182G>C (p.Lys394Asn)
c.2384G>C
c.416G>C
c.2125G>C
c.4519G>C (n.4519G>C)
c.10902G>C (p.Lys3634Asn)
n.4831G>C
c.11031G>C (p.Lys3677Asn)
 gnomAD v4
2g.73572905G=CA1261022106ALMS1c.10647G= (p.Lys3549=)
c.3733G=
c.7928G=
c.5094G= (p.Lys1698=)
c.7973G=
c.11028G= (p.Lys3676=)
c.1182G= (p.Lys394=)
c.2384G=
c.416G=
c.2125G=
c.4519G= (n.4519G=)
c.10902G= (p.Lys3634=)
n.4831G=
c.11031G= (p.Lys3677=)
2g.73572905G>TCA347286994ALMS1c.10647G>T (p.Lys3549Asn)
c.3733G>T
c.7928G>T
c.5094G>T (p.Lys1698Asn)
c.7973G>T
c.11028G>T (p.Lys3676Asn)
c.1182G>T (p.Lys394Asn)
c.2384G>T
c.416G>T
c.2125G>T
c.4519G>T (n.4519G>T)
c.10902G>T (p.Lys3634Asn)
n.4831G>T
c.11031G>T (p.Lys3677Asn)
 ClinVar
2g.73572906A>CCA347286997ALMS1c.10648A>C (p.Lys3550Gln)
c.3734A>C
c.7929A>C
c.5095A>C (p.Lys1699Gln)
c.7974A>C
c.11029A>C (p.Lys3677Gln)
c.1183A>C (p.Lys395Gln)
c.2385A>C
c.417A>C
c.2126A>C
c.4520A>C (n.4520A>C)
c.10903A>C (p.Lys3635Gln)
n.4832A>C
c.11032A>C (p.Lys3678Gln)
2g.73572906A>GCA347286999ALMS1c.10648A>G (p.Lys3550Glu)
c.3734A>G
c.7929A>G
c.5095A>G (p.Lys1699Glu)
c.7974A>G
c.11029A>G (p.Lys3677Glu)
c.1183A>G (p.Lys395Glu)
c.2385A>G
c.417A>G
c.2126A>G
c.4520A>G (n.4520A>G)
c.10903A>G (p.Lys3635Glu)
n.4832A>G
c.11032A>G (p.Lys3678Glu)
2g.73572906A>TCA347287000ALMS1c.10648A>T (p.Lys3550Ter)
c.3734A>T
c.7929A>T
c.5095A>T (p.Lys1699Ter)
c.7974A>T
c.11029A>T (p.Lys3677Ter)
c.1183A>T (p.Lys395Ter)
c.2385A>T
c.417A>T
c.2126A>T
c.4520A>T (n.4520A>T)
c.10903A>T (p.Lys3635Ter)
n.4832A>T
c.11032A>T (p.Lys3678Ter)
2g.73572907A=CA1261022114ALMS1c.10649A= (p.Lys3550=)
c.3735A=
c.7930A=
c.5096A= (p.Lys1699=)
c.7975A=
c.11030A= (p.Lys3677=)
c.1184A= (p.Lys395=)
c.2386A=
c.418A=
c.2127A=
c.4521A= (n.4521A=)
c.10904A= (p.Lys3635=)
n.4833A=
c.11033A= (p.Lys3678=)
2g.73572907A>CCA347287006ALMS1c.10649A>C (p.Lys3550Thr)
c.3735A>C
c.7930A>C
c.5096A>C (p.Lys1699Thr)
c.7975A>C
c.11030A>C (p.Lys3677Thr)
c.1184A>C (p.Lys395Thr)
c.2386A>C
c.418A>C
c.2127A>C
c.4521A>C (n.4521A>C)
c.10904A>C (p.Lys3635Thr)
n.4833A>C
c.11033A>C (p.Lys3678Thr)
2g.73572907A>GCA347287003ALMS1c.10649A>G (p.Lys3550Arg)
c.3735A>G
c.7930A>G
c.5096A>G (p.Lys1699Arg)
c.7975A>G
c.11030A>G (p.Lys3677Arg)
c.1184A>G (p.Lys395Arg)
c.2386A>G
c.418A>G
c.2127A>G
c.4521A>G (n.4521A>G)
c.10904A>G (p.Lys3635Arg)
n.4833A>G
c.11033A>G (p.Lys3678Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.73572907A>TCA347287004ALMS1c.10649A>T (p.Lys3550Met)
c.3735A>T
c.7930A>T
c.5096A>T (p.Lys1699Met)
c.7975A>T
c.11030A>T (p.Lys3677Met)
c.1184A>T (p.Lys395Met)
c.2386A>T
c.418A>T
c.2127A>T
c.4521A>T (n.4521A>T)
c.10904A>T (p.Lys3635Met)
n.4833A>T
c.11033A>T (p.Lys3678Met)
2g.73572908G>ACA427024455ALMS1c.10650G>A (p.Lys3550=)
c.3736G>A
c.7931G>A
c.5097G>A (p.Lys1699=)
c.7976G>A
c.11031G>A (p.Lys3677=)
c.1185G>A (p.Lys395=)
c.2387G>A
c.419G>A
c.2128G>A
c.4522G>A (n.4522G>A)
c.10905G>A (p.Lys3635=)
n.4834G>A
c.11034G>A (p.Lys3678=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572908G>CCA347287008ALMS1c.10650G>C (p.Lys3550Asn)
c.3736G>C
c.7931G>C
c.5097G>C (p.Lys1699Asn)
c.7976G>C
c.11031G>C (p.Lys3677Asn)
c.1185G>C (p.Lys395Asn)
c.2387G>C
c.419G>C
c.2128G>C
c.4522G>C (n.4522G>C)
c.10905G>C (p.Lys3635Asn)
n.4834G>C
c.11034G>C (p.Lys3678Asn)
2g.73572908G=CA1261022121ALMS1c.10650G= (p.Lys3550=)
c.3736G=
c.7931G=
c.5097G= (p.Lys1699=)
c.7976G=
c.11031G= (p.Lys3677=)
c.1185G= (p.Lys395=)
c.2387G=
c.419G=
c.2128G=
c.4522G= (n.4522G=)
c.10905G= (p.Lys3635=)
n.4834G=
c.11034G= (p.Lys3678=)
2g.73572908G>TCA347287010ALMS1c.10650G>T (p.Lys3550Asn)
c.3736G>T
c.7931G>T
c.5097G>T (p.Lys1699Asn)
c.7976G>T
c.11031G>T (p.Lys3677Asn)
c.1185G>T (p.Lys395Asn)
c.2387G>T
c.419G>T
c.2128G>T
c.4522G>T (n.4522G>T)
c.10905G>T (p.Lys3635Asn)
n.4834G>T
c.11034G>T (p.Lys3678Asn)
2g.73572909C>ACA427024456ALMS1c.10651C>A (p.Arg3551=)
c.3737C>A
c.7932C>A
c.5098C>A (p.Arg1700=)
c.7977C>A
c.11032C>A (p.Arg3678=)
c.1186C>A (p.Arg396=)
c.2388C>A
c.420C>A
c.2129C>A
c.4523C>A (n.4523C>A)
c.10906C>A (p.Arg3636=)
n.4835C>A
c.11035C>A (p.Arg3679=)
2g.73572909C=CA1261022124ALMS1c.10651C= (p.Arg3551=)
c.3737C=
c.7932C=
c.5098C= (p.Arg1700=)
c.7977C=
c.11032C= (p.Arg3678=)
c.1186C= (p.Arg396=)
c.2388C=
c.420C=
c.2129C=
c.4523C= (n.4523C=)
c.10906C= (p.Arg3636=)
n.4835C=
c.11035C= (p.Arg3679=)
2g.73572909C>GCA347287012ALMS1c.10651C>G (p.Arg3551Gly)
c.3737C>G
c.7932C>G
c.5098C>G (p.Arg1700Gly)
c.7977C>G
c.11032C>G (p.Arg3678Gly)
c.1186C>G (p.Arg396Gly)
c.2388C>G
c.420C>G
c.2129C>G
c.4523C>G (n.4523C>G)
c.10906C>G (p.Arg3636Gly)
n.4835C>G
c.11035C>G (p.Arg3679Gly)
2g.73572909C>TCA1715104ALMS1c.10651C>T (p.Arg3551Trp)
c.3737C>T
c.7932C>T
c.5098C>T (p.Arg1700Trp)
c.7977C>T
c.11032C>T (p.Arg3678Trp)
c.1186C>T (p.Arg396Trp)
c.2388C>T
c.420C>T
c.2129C>T
c.4523C>T (n.4523C>T)
c.10906C>T (p.Arg3636Trp)
n.4835C>T
c.11035C>T (p.Arg3679Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572910G>ACA1715105ALMS1c.10652G>A (p.Arg3551Gln)
c.3738G>A
c.7933G>A
c.5099G>A (p.Arg1700Gln)
c.7978G>A
c.11033G>A (p.Arg3678Gln)
c.1187G>A (p.Arg396Gln)
c.2389G>A
c.421G>A
c.2130G>A
c.4524G>A (n.4524G>A)
c.10907G>A (p.Arg3636Gln)
n.4836G>A
c.11036G>A (p.Arg3679Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572910G>CCA347287017ALMS1c.10652G>C (p.Arg3551Pro)
c.3738G>C
c.7933G>C
c.5099G>C (p.Arg1700Pro)
c.7978G>C
c.11033G>C (p.Arg3678Pro)
c.1187G>C (p.Arg396Pro)
c.2389G>C
c.421G>C
c.2130G>C
c.4524G>C (n.4524G>C)
c.10907G>C (p.Arg3636Pro)
n.4836G>C
c.11036G>C (p.Arg3679Pro)
2g.73572910G=CA1261022131ALMS1c.10652G= (p.Arg3551=)
c.3738G=
c.7933G=
c.5099G= (p.Arg1700=)
c.7978G=
c.11033G= (p.Arg3678=)
c.1187G= (p.Arg396=)
c.2389G=
c.421G=
c.2130G=
c.4524G= (n.4524G=)
c.10907G= (p.Arg3636=)
n.4836G=
c.11036G= (p.Arg3679=)
2g.73572910G>TCA347287019ALMS1c.10652G>T (p.Arg3551Leu)
c.3738G>T
c.7933G>T
c.5099G>T (p.Arg1700Leu)
c.7978G>T
c.11033G>T (p.Arg3678Leu)
c.1187G>T (p.Arg396Leu)
c.2389G>T
c.421G>T
c.2130G>T
c.4524G>T (n.4524G>T)
c.10907G>T (p.Arg3636Leu)
n.4836G>T
c.11036G>T (p.Arg3679Leu)

Number of alleles fetched