Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73572257T>CCA534124484ALMS1c.10004-5T>C (n.10004-5T>C)
c.3090-5T>C
c.7285-5T>C
c.4451-5T>C (n.4451-5T>C)
c.7330-5T>C
c.10385-5T>C (n.10385-5T>C)
c.539-5T>C (n.539-5T>C)
c.1741-5T>C
c.1482-5T>C
c.3876-5T>C (n.3876-5T>C)
c.10259-5T>C (n.10259-5T>C)
n.4188-5T>C
c.10388-5T>C (n.10388-5T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572257T=CA1261020765ALMS1c.10004-5T= (n.10004-5T=)
c.3090-5T=
c.7285-5T=
c.4451-5T= (n.4451-5T=)
c.7330-5T=
c.10385-5T= (n.10385-5T=)
c.539-5T= (n.539-5T=)
c.1741-5T=
c.1482-5T=
c.3876-5T= (n.3876-5T=)
c.10259-5T= (n.10259-5T=)
n.4188-5T=
c.10388-5T= (n.10388-5T=)
2g.73572259C=CA1261020769ALMS1c.10004-3C= (n.10004-3C=)
c.3090-3C=
c.7285-3C=
c.4451-3C= (n.4451-3C=)
c.7330-3C=
c.10385-3C= (n.10385-3C=)
c.539-3C= (n.539-3C=)
c.1741-3C=
c.1482-3C=
c.3876-3C= (n.3876-3C=)
c.10259-3C= (n.10259-3C=)
n.4188-3C=
c.10388-3C= (n.10388-3C=)
2g.73572259C>TCA534124485ALMS1c.10004-3C>T (n.10004-3C>T)
c.3090-3C>T
c.7285-3C>T
c.4451-3C>T (n.4451-3C>T)
c.7330-3C>T
c.10385-3C>T (n.10385-3C>T)
c.539-3C>T (n.539-3C>T)
c.1741-3C>T
c.1482-3C>T
c.3876-3C>T (n.3876-3C>T)
c.10259-3C>T (n.10259-3C>T)
n.4188-3C>T
c.10388-3C>T (n.10388-3C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.73572260A=CA1261020772ALMS1c.10004-2A= (n.10004-2A=)
c.3090-2A=
c.7285-2A=
c.4451-2A= (n.4451-2A=)
c.7330-2A=
c.10385-2A= (n.10385-2A=)
c.539-2A= (n.539-2A=)
c.1741-2A=
c.1482-2A=
c.3876-2A= (n.3876-2A=)
c.10259-2A= (n.10259-2A=)
n.4188-2A=
c.10388-2A= (n.10388-2A=)
2g.73572260A>CCA347282504ALMS1c.10004-2A>C (n.10004-2A>C)
c.3090-2A>C
c.7285-2A>C
c.4451-2A>C (n.4451-2A>C)
c.7330-2A>C
c.10385-2A>C (n.10385-2A>C)
c.539-2A>C (n.539-2A>C)
c.1741-2A>C
c.1482-2A>C
c.3876-2A>C (n.3876-2A>C)
c.10259-2A>C (n.10259-2A>C)
n.4188-2A>C
c.10388-2A>C (n.10388-2A>C)
2g.73572260A>GCA347282506ALMS1c.10004-2A>G (n.10004-2A>G)
c.3090-2A>G
c.7285-2A>G
c.4451-2A>G (n.4451-2A>G)
c.7330-2A>G
c.10385-2A>G (n.10385-2A>G)
c.539-2A>G (n.539-2A>G)
c.1741-2A>G
c.1482-2A>G
c.3876-2A>G (n.3876-2A>G)
c.10259-2A>G (n.10259-2A>G)
n.4188-2A>G
c.10388-2A>G (n.10388-2A>G)
 ClinVar dbSNP gnomAD v4
2g.73572260A>TCA347282510ALMS1c.10004-2A>T (n.10004-2A>T)
c.3090-2A>T
c.7285-2A>T
c.4451-2A>T (n.4451-2A>T)
c.7330-2A>T
c.10385-2A>T (n.10385-2A>T)
c.539-2A>T (n.539-2A>T)
c.1741-2A>T
c.1482-2A>T
c.3876-2A>T (n.3876-2A>T)
c.10259-2A>T (n.10259-2A>T)
n.4188-2A>T
c.10388-2A>T (n.10388-2A>T)
 dbSNP gnomAD v2
2g.73572261G>ACA347282514ALMS1c.10004-1G>A (n.10004-1G>A)
c.3090-1G>A
c.7285-1G>A
c.4451-1G>A (n.4451-1G>A)
c.7330-1G>A
c.10385-1G>A (n.10385-1G>A)
c.539-1G>A (n.539-1G>A)
c.1741-1G>A
c.1482-1G>A
c.3876-1G>A (n.3876-1G>A)
c.10259-1G>A (n.10259-1G>A)
n.4188-1G>A
c.10388-1G>A (n.10388-1G>A)
 dbSNP gnomAD v2
2g.73572261G>CCA347282518ALMS1c.10004-1G>C (n.10004-1G>C)
c.3090-1G>C
c.7285-1G>C
c.4451-1G>C (n.4451-1G>C)
c.7330-1G>C
c.10385-1G>C (n.10385-1G>C)
c.539-1G>C (n.539-1G>C)
c.1741-1G>C
c.1482-1G>C
c.3876-1G>C (n.3876-1G>C)
c.10259-1G>C (n.10259-1G>C)
n.4188-1G>C
c.10388-1G>C (n.10388-1G>C)
2g.73572261G=CA1261020775ALMS1c.10004-1G= (n.10004-1G=)
c.3090-1G=
c.7285-1G=
c.4451-1G= (n.4451-1G=)
c.7330-1G=
c.10385-1G= (n.10385-1G=)
c.539-1G= (n.539-1G=)
c.1741-1G=
c.1482-1G=
c.3876-1G= (n.3876-1G=)
c.10259-1G= (n.10259-1G=)
n.4188-1G=
c.10388-1G= (n.10388-1G=)
2g.73572261G>TCA347282519ALMS1c.10004-1G>T (n.10004-1G>T)
c.3090-1G>T
c.7285-1G>T
c.4451-1G>T (n.4451-1G>T)
c.7330-1G>T
c.10385-1G>T (n.10385-1G>T)
c.539-1G>T (n.539-1G>T)
c.1741-1G>T
c.1482-1G>T
c.3876-1G>T (n.3876-1G>T)
c.10259-1G>T (n.10259-1G>T)
n.4188-1G>T
c.10388-1G>T (n.10388-1G>T)
2g.73572262A>CCA347282527ALMS1c.10004A>C (p.Glu3335Ala)
c.3090A>C
c.7285A>C
c.4451A>C (p.Glu1484Ala)
c.7330A>C
c.10385A>C (p.Glu3462Ala)
c.539A>C (p.Glu180Ala)
c.1741A>C
c.1482A>C
c.3876A>C (n.3876A>C)
c.10259A>C (p.Glu3420Ala)
n.4188A>C
c.10388A>C (p.Glu3463Ala)
2g.73572262A>GCA347282530ALMS1c.10004A>G (p.Glu3335Gly)
c.3090A>G
c.7285A>G
c.4451A>G (p.Glu1484Gly)
c.7330A>G
c.10385A>G (p.Glu3462Gly)
c.539A>G (p.Glu180Gly)
c.1741A>G
c.1482A>G
c.3876A>G (n.3876A>G)
c.10259A>G (p.Glu3420Gly)
n.4188A>G
c.10388A>G (p.Glu3463Gly)
2g.73572262A>TCA347282524ALMS1c.10004A>T (p.Glu3335Val)
c.3090A>T
c.7285A>T
c.4451A>T (p.Glu1484Val)
c.7330A>T
c.10385A>T (p.Glu3462Val)
c.539A>T (p.Glu180Val)
c.1741A>T
c.1482A>T
c.3876A>T (n.3876A>T)
c.10259A>T (p.Glu3420Val)
n.4188A>T
c.10388A>T (p.Glu3463Val)
2g.73572263G>ACA1714994ALMS1c.10005G>A (p.Glu3335=)
c.3091G>A
c.7286G>A
c.4452G>A (p.Glu1484=)
c.7331G>A
c.10386G>A (p.Glu3462=)
c.540G>A (p.Glu180=)
c.1742G>A
c.1483G>A
c.3877G>A (n.3877G>A)
c.10260G>A (p.Glu3420=)
n.4189G>A
c.10389G>A (p.Glu3463=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572263G>CCA347282536ALMS1c.10005G>C (p.Glu3335Asp)
c.3091G>C
c.7286G>C
c.4452G>C (p.Glu1484Asp)
c.7331G>C
c.10386G>C (p.Glu3462Asp)
c.540G>C (p.Glu180Asp)
c.1742G>C
c.1483G>C
c.3877G>C (n.3877G>C)
c.10260G>C (p.Glu3420Asp)
n.4189G>C
c.10389G>C (p.Glu3463Asp)
 gnomAD v4
2g.73572263G=CA1261020777ALMS1c.10005G= (p.Glu3335=)
c.3091G=
c.7286G=
c.4452G= (p.Glu1484=)
c.7331G=
c.10386G= (p.Glu3462=)
c.540G= (p.Glu180=)
c.1742G=
c.1483G=
c.3877G= (n.3877G=)
c.10260G= (p.Glu3420=)
n.4189G=
c.10389G= (p.Glu3463=)
2g.73572263G>TCA347282538ALMS1c.10005G>T (p.Glu3335Asp)
c.3091G>T
c.7286G>T
c.4452G>T (p.Glu1484Asp)
c.7331G>T
c.10386G>T (p.Glu3462Asp)
c.540G>T (p.Glu180Asp)
c.1742G>T
c.1483G>T
c.3877G>T (n.3877G>T)
c.10260G>T (p.Glu3420Asp)
n.4189G>T
c.10389G>T (p.Glu3463Asp)
2g.73572264T>ACA347282539ALMS1c.10006T>A (p.Ser3336Thr)
c.3092T>A
c.7287T>A
c.4453T>A (p.Ser1485Thr)
c.7332T>A
c.10387T>A (p.Ser3463Thr)
c.541T>A (p.Ser181Thr)
c.1743T>A
c.1484T>A
c.3878T>A (n.3878T>A)
c.10261T>A (p.Ser3421Thr)
n.4190T>A
c.10390T>A (p.Ser3464Thr)
2g.73572264T>CCA347282540ALMS1c.10006T>C (p.Ser3336Pro)
c.3092T>C
c.7287T>C
c.4453T>C (p.Ser1485Pro)
c.7332T>C
c.10387T>C (p.Ser3463Pro)
c.541T>C (p.Ser181Pro)
c.1743T>C
c.1484T>C
c.3878T>C (n.3878T>C)
c.10261T>C (p.Ser3421Pro)
n.4190T>C
c.10390T>C (p.Ser3464Pro)
 gnomAD v4
2g.73572264T>GCA347282541ALMS1c.10006T>G (p.Ser3336Ala)
c.3092T>G
c.7287T>G
c.4453T>G (p.Ser1485Ala)
c.7332T>G
c.10387T>G (p.Ser3463Ala)
c.541T>G (p.Ser181Ala)
c.1743T>G
c.1484T>G
c.3878T>G (n.3878T>G)
c.10261T>G (p.Ser3421Ala)
n.4190T>G
c.10390T>G (p.Ser3464Ala)
2g.73572265C>ACA347282544ALMS1c.10007C>A (p.Ser3336Tyr)
c.3093C>A
c.7288C>A
c.4454C>A (p.Ser1485Tyr)
c.7333C>A
c.10388C>A (p.Ser3463Tyr)
c.542C>A (p.Ser181Tyr)
c.1744C>A
c.1485C>A
c.3879C>A (n.3879C>A)
c.10262C>A (p.Ser3421Tyr)
n.4191C>A
c.10391C>A (p.Ser3464Tyr)
 gnomAD v4
2g.73572265C=CA1261020782ALMS1c.10007C= (p.Ser3336=)
c.3093C=
c.7288C=
c.4454C= (p.Ser1485=)
c.7333C=
c.10388C= (p.Ser3463=)
c.542C= (p.Ser181=)
c.1744C=
c.1485C=
c.3879C= (n.3879C=)
c.10262C= (p.Ser3421=)
n.4191C=
c.10391C= (p.Ser3464=)
2g.73572265C>GCA1714995ALMS1c.10007C>G (p.Ser3336Cys)
c.3093C>G
c.7288C>G
c.4454C>G (p.Ser1485Cys)
c.7333C>G
c.10388C>G (p.Ser3463Cys)
c.542C>G (p.Ser181Cys)
c.1744C>G
c.1485C>G
c.3879C>G (n.3879C>G)
c.10262C>G (p.Ser3421Cys)
n.4191C>G
c.10391C>G (p.Ser3464Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572265C>TCA347282548ALMS1c.10007C>T (p.Ser3336Phe)
c.3093C>T
c.7288C>T
c.4454C>T (p.Ser1485Phe)
c.7333C>T
c.10388C>T (p.Ser3463Phe)
c.542C>T (p.Ser181Phe)
c.1744C>T
c.1485C>T
c.3879C>T (n.3879C>T)
c.10262C>T (p.Ser3421Phe)
n.4191C>T
c.10391C>T (p.Ser3464Phe)
2g.73572266C>ACA427024210ALMS1c.10008C>A (p.Ser3336=)
c.3094C>A
c.7289C>A
c.4455C>A (p.Ser1485=)
c.7334C>A
c.10389C>A (p.Ser3463=)
c.543C>A (p.Ser181=)
c.1745C>A
c.1486C>A
c.3880C>A (n.3880C>A)
c.10263C>A (p.Ser3421=)
n.4192C>A
c.10392C>A (p.Ser3464=)
 gnomAD v4
2g.73572266C=CA1261020786ALMS1c.10008C= (p.Ser3336=)
c.3094C=
c.7289C=
c.4455C= (p.Ser1485=)
c.7334C=
c.10389C= (p.Ser3463=)
c.543C= (p.Ser181=)
c.1745C=
c.1486C=
c.3880C= (n.3880C=)
c.10263C= (p.Ser3421=)
n.4192C=
c.10392C= (p.Ser3464=)
2g.73572266C>GCA427024215ALMS1c.10008C>G (p.Ser3336=)
c.3094C>G
c.7289C>G
c.4455C>G (p.Ser1485=)
c.7334C>G
c.10389C>G (p.Ser3463=)
c.543C>G (p.Ser181=)
c.1745C>G
c.1486C>G
c.3880C>G (n.3880C>G)
c.10263C>G (p.Ser3421=)
n.4192C>G
c.10392C>G (p.Ser3464=)
2g.73572266C>TCA1714996ALMS1c.10008C>T (p.Ser3336=)
c.3094C>T
c.7289C>T
c.4455C>T (p.Ser1485=)
c.7334C>T
c.10389C>T (p.Ser3463=)
c.543C>T (p.Ser181=)
c.1745C>T
c.1486C>T
c.3880C>T (n.3880C>T)
c.10263C>T (p.Ser3421=)
n.4192C>T
c.10392C>T (p.Ser3464=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572267G>ACA1714997ALMS1c.10009G>A (p.Glu3337Lys)
c.3095G>A
c.7290G>A
c.4456G>A (p.Glu1486Lys)
c.7335G>A
c.10390G>A (p.Glu3464Lys)
c.544G>A (p.Glu182Lys)
c.1746G>A
c.1487G>A
c.3881G>A (n.3881G>A)
c.10264G>A (p.Glu3422Lys)
n.4193G>A
c.10393G>A (p.Glu3465Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572267G>CCA347282556ALMS1c.10009G>C (p.Glu3337Gln)
c.3095G>C
c.7290G>C
c.4456G>C (p.Glu1486Gln)
c.7335G>C
c.10390G>C (p.Glu3464Gln)
c.544G>C (p.Glu182Gln)
c.1746G>C
c.1487G>C
c.3881G>C (n.3881G>C)
c.10264G>C (p.Glu3422Gln)
n.4193G>C
c.10393G>C (p.Glu3465Gln)
2g.73572267G=CA1261020790ALMS1c.10009G= (p.Glu3337=)
c.3095G=
c.7290G=
c.4456G= (p.Glu1486=)
c.7335G=
c.10390G= (p.Glu3464=)
c.544G= (p.Glu182=)
c.1746G=
c.1487G=
c.3881G= (n.3881G=)
c.10264G= (p.Glu3422=)
n.4193G=
c.10393G= (p.Glu3465=)
2g.73572267G>TCA347282562ALMS1c.10009G>T (p.Glu3337Ter)
c.3095G>T
c.7290G>T
c.4456G>T (p.Glu1486Ter)
c.7335G>T
c.10390G>T (p.Glu3464Ter)
c.544G>T (p.Glu182Ter)
c.1746G>T
c.1487G>T
c.3881G>T (n.3881G>T)
c.10264G>T (p.Glu3422Ter)
n.4193G>T
c.10393G>T (p.Glu3465Ter)
2g.73572268A=CA1261020793ALMS1c.10010A= (p.Glu3337=)
c.3096A=
c.7291A=
c.4457A= (p.Glu1486=)
c.7336A=
c.10391A= (p.Glu3464=)
c.545A= (p.Glu182=)
c.1747A=
c.1488A=
c.3882A= (n.3882A=)
c.10265A= (p.Glu3422=)
n.4194A=
c.10394A= (p.Glu3465=)
2g.73572268A>CCA1714998ALMS1c.10010A>C (p.Glu3337Ala)
c.3096A>C
c.7291A>C
c.4457A>C (p.Glu1486Ala)
c.7336A>C
c.10391A>C (p.Glu3464Ala)
c.545A>C (p.Glu182Ala)
c.1747A>C
c.1488A>C
c.3882A>C (n.3882A>C)
c.10265A>C (p.Glu3422Ala)
n.4194A>C
c.10394A>C (p.Glu3465Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572268A>GCA347282571ALMS1c.10010A>G (p.Glu3337Gly)
c.3096A>G
c.7291A>G
c.4457A>G (p.Glu1486Gly)
c.7336A>G
c.10391A>G (p.Glu3464Gly)
c.545A>G (p.Glu182Gly)
c.1747A>G
c.1488A>G
c.3882A>G (n.3882A>G)
c.10265A>G (p.Glu3422Gly)
n.4194A>G
c.10394A>G (p.Glu3465Gly)
2g.73572268A>TCA347282567ALMS1c.10010A>T (p.Glu3337Val)
c.3096A>T
c.7291A>T
c.4457A>T (p.Glu1486Val)
c.7336A>T
c.10391A>T (p.Glu3464Val)
c.545A>T (p.Glu182Val)
c.1747A>T
c.1488A>T
c.3882A>T (n.3882A>T)
c.10265A>T (p.Glu3422Val)
n.4194A>T
c.10394A>T (p.Glu3465Val)
2g.73572269A>CCA347282574ALMS1c.10011A>C (p.Glu3337Asp)
c.3097A>C
c.7292A>C
c.4458A>C (p.Glu1486Asp)
c.7337A>C
c.10392A>C (p.Glu3464Asp)
c.546A>C (p.Glu182Asp)
c.1748A>C
c.1489A>C
c.3883A>C (n.3883A>C)
c.10266A>C (p.Glu3422Asp)
n.4195A>C
c.10395A>C (p.Glu3465Asp)
2g.73572269A>GCA427024223ALMS1c.10011A>G (p.Glu3337=)
c.3097A>G
c.7292A>G
c.4458A>G (p.Glu1486=)
c.7337A>G
c.10392A>G (p.Glu3464=)
c.546A>G (p.Glu182=)
c.1748A>G
c.1489A>G
c.3883A>G (n.3883A>G)
c.10266A>G (p.Glu3422=)
n.4195A>G
c.10395A>G (p.Glu3465=)
 gnomAD v4
2g.73572269A>TCA347282576ALMS1c.10011A>T (p.Glu3337Asp)
c.3097A>T
c.7292A>T
c.4458A>T (p.Glu1486Asp)
c.7337A>T
c.10392A>T (p.Glu3464Asp)
c.546A>T (p.Glu182Asp)
c.1748A>T
c.1489A>T
c.3883A>T (n.3883A>T)
c.10266A>T (p.Glu3422Asp)
n.4195A>T
c.10395A>T (p.Glu3465Asp)
2g.73572270T>ACA347282580ALMS1c.10012T>A (p.Cys3338Ser)
c.3098T>A
c.7293T>A
c.4459T>A (p.Cys1487Ser)
c.7338T>A
c.10393T>A (p.Cys3465Ser)
c.547T>A (p.Cys183Ser)
c.1749T>A
c.1490T>A
c.3884T>A (n.3884T>A)
c.10267T>A (p.Cys3423Ser)
n.4196T>A
c.10396T>A (p.Cys3466Ser)
2g.73572270T>CCA347282581ALMS1c.10012T>C (p.Cys3338Arg)
c.3098T>C
c.7293T>C
c.4459T>C (p.Cys1487Arg)
c.7338T>C
c.10393T>C (p.Cys3465Arg)
c.547T>C (p.Cys183Arg)
c.1749T>C
c.1490T>C
c.3884T>C (n.3884T>C)
c.10267T>C (p.Cys3423Arg)
n.4196T>C
c.10396T>C (p.Cys3466Arg)
2g.73572270T>GCA347282583ALMS1c.10012T>G (p.Cys3338Gly)
c.3098T>G
c.7293T>G
c.4459T>G (p.Cys1487Gly)
c.7338T>G
c.10393T>G (p.Cys3465Gly)
c.547T>G (p.Cys183Gly)
c.1749T>G
c.1490T>G
c.3884T>G (n.3884T>G)
c.10267T>G (p.Cys3423Gly)
n.4196T>G
c.10396T>G (p.Cys3466Gly)
2g.73572271G>ACA347282586ALMS1c.10013G>A (p.Cys3338Tyr)
c.3099G>A
c.7294G>A
c.4460G>A (p.Cys1487Tyr)
c.7339G>A
c.10394G>A (p.Cys3465Tyr)
c.548G>A (p.Cys183Tyr)
c.1750G>A
c.1491G>A
c.3885G>A (n.3885G>A)
c.10268G>A (p.Cys3423Tyr)
n.4197G>A
c.10397G>A (p.Cys3466Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.73572271G>CCA347282587ALMS1c.10013G>C (p.Cys3338Ser)
c.3099G>C
c.7294G>C
c.4460G>C (p.Cys1487Ser)
c.7339G>C
c.10394G>C (p.Cys3465Ser)
c.548G>C (p.Cys183Ser)
c.1750G>C
c.1491G>C
c.3885G>C (n.3885G>C)
c.10268G>C (p.Cys3423Ser)
n.4197G>C
c.10397G>C (p.Cys3466Ser)
 gnomAD v4
2g.73572271G=CA1261020797ALMS1c.10013G= (p.Cys3338=)
c.3099G=
c.7294G=
c.4460G= (p.Cys1487=)
c.7339G=
c.10394G= (p.Cys3465=)
c.548G= (p.Cys183=)
c.1750G=
c.1491G=
c.3885G= (n.3885G=)
c.10268G= (p.Cys3423=)
n.4197G=
c.10397G= (p.Cys3466=)
2g.73572271G>TCA347282590ALMS1c.10013G>T (p.Cys3338Phe)
c.3099G>T
c.7294G>T
c.4460G>T (p.Cys1487Phe)
c.7339G>T
c.10394G>T (p.Cys3465Phe)
c.548G>T (p.Cys183Phe)
c.1750G>T
c.1491G>T
c.3885G>T (n.3885G>T)
c.10268G>T (p.Cys3423Phe)
n.4197G>T
c.10397G>T (p.Cys3466Phe)
2g.73572272T>ACA347282593ALMS1c.10014T>A (p.Cys3338Ter)
c.3100T>A
c.7295T>A
c.4461T>A (p.Cys1487Ter)
c.7340T>A
c.10395T>A (p.Cys3465Ter)
c.549T>A (p.Cys183Ter)
c.1751T>A
c.1492T>A
c.3886T>A (n.3886T>A)
c.10269T>A (p.Cys3423Ter)
n.4198T>A
c.10398T>A (p.Cys3466Ter)
2g.73572272T>CCA427024229ALMS1c.10014T>C (p.Cys3338=)
c.3100T>C
c.7295T>C
c.4461T>C (p.Cys1487=)
c.7340T>C
c.10395T>C (p.Cys3465=)
c.549T>C (p.Cys183=)
c.1751T>C
c.1492T>C
c.3886T>C (n.3886T>C)
c.10269T>C (p.Cys3423=)
n.4198T>C
c.10398T>C (p.Cys3466=)
2g.73572272T>GCA347282594ALMS1c.10014T>G (p.Cys3338Trp)
c.3100T>G
c.7295T>G
c.4461T>G (p.Cys1487Trp)
c.7340T>G
c.10395T>G (p.Cys3465Trp)
c.549T>G (p.Cys183Trp)
c.1751T>G
c.1492T>G
c.3886T>G (n.3886T>G)
c.10269T>G (p.Cys3423Trp)
n.4198T>G
c.10398T>G (p.Cys3466Trp)
2g.73572273C>ACA347282595ALMS1c.10015C>A (p.His3339Asn)
c.3101C>A
c.7296C>A
c.4462C>A (p.His1488Asn)
c.7341C>A
c.10396C>A (p.His3466Asn)
c.550C>A (p.His184Asn)
c.1752C>A
c.1493C>A
c.3887C>A (n.3887C>A)
c.10270C>A (p.His3424Asn)
n.4199C>A
c.10399C>A (p.His3467Asn)
2g.73572273C>GCA347282596ALMS1c.10015C>G (p.His3339Asp)
c.3101C>G
c.7296C>G
c.4462C>G (p.His1488Asp)
c.7341C>G
c.10396C>G (p.His3466Asp)
c.550C>G (p.His184Asp)
c.1752C>G
c.1493C>G
c.3887C>G (n.3887C>G)
c.10270C>G (p.His3424Asp)
n.4199C>G
c.10399C>G (p.His3467Asp)
2g.73572273C>TCA347282598ALMS1c.10015C>T (p.His3339Tyr)
c.3101C>T
c.7296C>T
c.4462C>T (p.His1488Tyr)
c.7341C>T
c.10396C>T (p.His3466Tyr)
c.550C>T (p.His184Tyr)
c.1752C>T
c.1493C>T
c.3887C>T (n.3887C>T)
c.10270C>T (p.His3424Tyr)
n.4199C>T
c.10399C>T (p.His3467Tyr)
2g.73572274A>CCA347282602ALMS1c.10016A>C (p.His3339Pro)
c.3102A>C
c.7297A>C
c.4463A>C (p.His1488Pro)
c.7342A>C
c.10397A>C (p.His3466Pro)
c.551A>C (p.His184Pro)
c.1753A>C
c.1494A>C
c.3888A>C (n.3888A>C)
c.10271A>C (p.His3424Pro)
n.4200A>C
c.10400A>C (p.His3467Pro)
2g.73572274A>GCA347282603ALMS1c.10016A>G (p.His3339Arg)
c.3102A>G
c.7297A>G
c.4463A>G (p.His1488Arg)
c.7342A>G
c.10397A>G (p.His3466Arg)
c.551A>G (p.His184Arg)
c.1753A>G
c.1494A>G
c.3888A>G (n.3888A>G)
c.10271A>G (p.His3424Arg)
n.4200A>G
c.10400A>G (p.His3467Arg)
2g.73572274A>TCA347282605ALMS1c.10016A>T (p.His3339Leu)
c.3102A>T
c.7297A>T
c.4463A>T (p.His1488Leu)
c.7342A>T
c.10397A>T (p.His3466Leu)
c.551A>T (p.His184Leu)
c.1753A>T
c.1494A>T
c.3888A>T (n.3888A>T)
c.10271A>T (p.His3424Leu)
n.4200A>T
c.10400A>T (p.His3467Leu)
2g.73572275T>ACA347282607ALMS1c.10017T>A (p.His3339Gln)
c.3103T>A
c.7298T>A
c.4464T>A (p.His1488Gln)
c.7343T>A
c.10398T>A (p.His3466Gln)
c.552T>A (p.His184Gln)
c.1754T>A
c.1495T>A
c.3889T>A (n.3889T>A)
c.10272T>A (p.His3424Gln)
n.4201T>A
c.10401T>A (p.His3467Gln)
2g.73572275T>CCA427024231ALMS1c.10017T>C (p.His3339=)
c.3103T>C
c.7298T>C
c.4464T>C (p.His1488=)
c.7343T>C
c.10398T>C (p.His3466=)
c.552T>C (p.His184=)
c.1754T>C
c.1495T>C
c.3889T>C (n.3889T>C)
c.10272T>C (p.His3424=)
n.4201T>C
c.10401T>C (p.His3467=)
2g.73572275T>GCA347282608ALMS1c.10017T>G (p.His3339Gln)
c.3103T>G
c.7298T>G
c.4464T>G (p.His1488Gln)
c.7343T>G
c.10398T>G (p.His3466Gln)
c.552T>G (p.His184Gln)
c.1754T>G
c.1495T>G
c.3889T>G (n.3889T>G)
c.10272T>G (p.His3424Gln)
n.4201T>G
c.10401T>G (p.His3467Gln)
2g.73572276T>ACA347282609ALMS1c.10018T>A (p.Ser3340Thr)
c.3104T>A
c.7299T>A
c.4465T>A (p.Ser1489Thr)
c.7344T>A
c.10399T>A (p.Ser3467Thr)
c.553T>A (p.Ser185Thr)
c.1755T>A
c.1496T>A
c.3890T>A (n.3890T>A)
c.10273T>A (p.Ser3425Thr)
n.4202T>A
c.10402T>A (p.Ser3468Thr)
2g.73572276T>CCA347282611ALMS1c.10018T>C (p.Ser3340Pro)
c.3104T>C
c.7299T>C
c.4465T>C (p.Ser1489Pro)
c.7344T>C
c.10399T>C (p.Ser3467Pro)
c.553T>C (p.Ser185Pro)
c.1755T>C
c.1496T>C
c.3890T>C (n.3890T>C)
c.10273T>C (p.Ser3425Pro)
n.4202T>C
c.10402T>C (p.Ser3468Pro)
2g.73572276T>GCA347282613ALMS1c.10018T>G (p.Ser3340Ala)
c.3104T>G
c.7299T>G
c.4465T>G (p.Ser1489Ala)
c.7344T>G
c.10399T>G (p.Ser3467Ala)
c.553T>G (p.Ser185Ala)
c.1755T>G
c.1496T>G
c.3890T>G (n.3890T>G)
c.10273T>G (p.Ser3425Ala)
n.4202T>G
c.10402T>G (p.Ser3468Ala)
2g.73572277C>ACA347282615ALMS1c.10019C>A (p.Ser3340Ter)
c.3105C>A
c.7300C>A
c.4466C>A (p.Ser1489Ter)
c.7345C>A
c.10400C>A (p.Ser3467Ter)
c.554C>A (p.Ser185Ter)
c.1756C>A
c.1497C>A
c.3891C>A (n.3891C>A)
c.10274C>A (p.Ser3425Ter)
n.4203C>A
c.10403C>A (p.Ser3468Ter)
2g.73572277C>GCA347282619ALMS1c.10019C>G (p.Ser3340Ter)
c.3105C>G
c.7300C>G
c.4466C>G (p.Ser1489Ter)
c.7345C>G
c.10400C>G (p.Ser3467Ter)
c.554C>G (p.Ser185Ter)
c.1756C>G
c.1497C>G
c.3891C>G (n.3891C>G)
c.10274C>G (p.Ser3425Ter)
n.4203C>G
c.10403C>G (p.Ser3468Ter)
2g.73572277C>TCA347282620ALMS1c.10019C>T (p.Ser3340Leu)
c.3105C>T
c.7300C>T
c.4466C>T (p.Ser1489Leu)
c.7345C>T
c.10400C>T (p.Ser3467Leu)
c.554C>T (p.Ser185Leu)
c.1756C>T
c.1497C>T
c.3891C>T (n.3891C>T)
c.10274C>T (p.Ser3425Leu)
n.4203C>T
c.10403C>T (p.Ser3468Leu)
 gnomAD v4
2g.73572278A=CA1261020799ALMS1c.10020A= (p.Ser3340=)
c.3106A=
c.7301A=
c.4467A= (p.Ser1489=)
c.7346A=
c.10401A= (p.Ser3467=)
c.555A= (p.Ser185=)
c.1757A=
c.1498A=
c.3892A= (n.3892A=)
c.10275A= (p.Ser3425=)
n.4204A=
c.10404A= (p.Ser3468=)
2g.73572278A>CCA427024236ALMS1c.10020A>C (p.Ser3340=)
c.3106A>C
c.7301A>C
c.4467A>C (p.Ser1489=)
c.7346A>C
c.10401A>C (p.Ser3467=)
c.555A>C (p.Ser185=)
c.1757A>C
c.1498A>C
c.3892A>C (n.3892A>C)
c.10275A>C (p.Ser3425=)
n.4204A>C
c.10404A>C (p.Ser3468=)
 dbSNP gnomAD v3 gnomAD v4
2g.73572278A>GCA427024237ALMS1c.10020A>G (p.Ser3340=)
c.3106A>G
c.7301A>G
c.4467A>G (p.Ser1489=)
c.7346A>G
c.10401A>G (p.Ser3467=)
c.555A>G (p.Ser185=)
c.1757A>G
c.1498A>G
c.3892A>G (n.3892A>G)
c.10275A>G (p.Ser3425=)
n.4204A>G
c.10404A>G (p.Ser3468=)
2g.73572278A>TCA427024238ALMS1c.10020A>T (p.Ser3340=)
c.3106A>T
c.7301A>T
c.4467A>T (p.Ser1489=)
c.7346A>T
c.10401A>T (p.Ser3467=)
c.555A>T (p.Ser185=)
c.1757A>T
c.1498A>T
c.3892A>T (n.3892A>T)
c.10275A>T (p.Ser3425=)
n.4204A>T
c.10404A>T (p.Ser3468=)
2g.73572279G>ACA347282625ALMS1c.10021G>A (p.Glu3341Lys)
c.3107G>A
c.7302G>A
c.4468G>A (p.Glu1490Lys)
c.7347G>A
c.10402G>A (p.Glu3468Lys)
c.556G>A (p.Glu186Lys)
c.1758G>A
c.1499G>A
c.3893G>A (n.3893G>A)
c.10276G>A (p.Glu3426Lys)
n.4205G>A
c.10405G>A (p.Glu3469Lys)
2g.73572279G>CCA347282627ALMS1c.10021G>C (p.Glu3341Gln)
c.3107G>C
c.7302G>C
c.4468G>C (p.Glu1490Gln)
c.7347G>C
c.10402G>C (p.Glu3468Gln)
c.556G>C (p.Glu186Gln)
c.1758G>C
c.1499G>C
c.3893G>C (n.3893G>C)
c.10276G>C (p.Glu3426Gln)
n.4205G>C
c.10405G>C (p.Glu3469Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.73572279G=CA1261020801ALMS1c.10021G= (p.Glu3341=)
c.3107G=
c.7302G=
c.4468G= (p.Glu1490=)
c.7347G=
c.10402G= (p.Glu3468=)
c.556G= (p.Glu186=)
c.1758G=
c.1499G=
c.3893G= (n.3893G=)
c.10276G= (p.Glu3426=)
n.4205G=
c.10405G= (p.Glu3469=)
2g.73572279G>TCA347282629ALMS1c.10021G>T (p.Glu3341Ter)
c.3107G>T
c.7302G>T
c.4468G>T (p.Glu1490Ter)
c.7347G>T
c.10402G>T (p.Glu3468Ter)
c.556G>T (p.Glu186Ter)
c.1758G>T
c.1499G>T
c.3893G>T (n.3893G>T)
c.10276G>T (p.Glu3426Ter)
n.4205G>T
c.10405G>T (p.Glu3469Ter)
 ClinVar gnomAD v4
2g.73572280A>CCA347282633ALMS1c.10022A>C (p.Glu3341Ala)
c.3108A>C
c.7303A>C
c.4469A>C (p.Glu1490Ala)
c.7348A>C
c.10403A>C (p.Glu3468Ala)
c.557A>C (p.Glu186Ala)
c.1759A>C
c.1500A>C
c.3894A>C (n.3894A>C)
c.10277A>C (p.Glu3426Ala)
n.4206A>C
c.10406A>C (p.Glu3469Ala)
2g.73572280A>GCA347282635ALMS1c.10022A>G (p.Glu3341Gly)
c.3108A>G
c.7303A>G
c.4469A>G (p.Glu1490Gly)
c.7348A>G
c.10403A>G (p.Glu3468Gly)
c.557A>G (p.Glu186Gly)
c.1759A>G
c.1500A>G
c.3894A>G (n.3894A>G)
c.10277A>G (p.Glu3426Gly)
n.4206A>G
c.10406A>G (p.Glu3469Gly)
2g.73572280A>TCA347282637ALMS1c.10022A>T (p.Glu3341Val)
c.3108A>T
c.7303A>T
c.4469A>T (p.Glu1490Val)
c.7348A>T
c.10403A>T (p.Glu3468Val)
c.557A>T (p.Glu186Val)
c.1759A>T
c.1500A>T
c.3894A>T (n.3894A>T)
c.10277A>T (p.Glu3426Val)
n.4206A>T
c.10406A>T (p.Glu3469Val)
2g.73572281A=CA1261020803ALMS1c.10023A= (p.Glu3341=)
c.3109A=
c.7304A=
c.4470A= (p.Glu1490=)
c.7349A=
c.10404A= (p.Glu3468=)
c.558A= (p.Glu186=)
c.1760A=
c.1501A=
c.3895A= (n.3895A=)
c.10278A= (p.Glu3426=)
n.4207A=
c.10407A= (p.Glu3469=)
2g.73572281A>CCA347282641ALMS1c.10023A>C (p.Glu3341Asp)
c.3109A>C
c.7304A>C
c.4470A>C (p.Glu1490Asp)
c.7349A>C
c.10404A>C (p.Glu3468Asp)
c.558A>C (p.Glu186Asp)
c.1760A>C
c.1501A>C
c.3895A>C (n.3895A>C)
c.10278A>C (p.Glu3426Asp)
n.4207A>C
c.10407A>C (p.Glu3469Asp)
2g.73572281A>GCA427024241ALMS1c.10023A>G (p.Glu3341=)
c.3109A>G
c.7304A>G
c.4470A>G (p.Glu1490=)
c.7349A>G
c.10404A>G (p.Glu3468=)
c.558A>G (p.Glu186=)
c.1760A>G
c.1501A>G
c.3895A>G (n.3895A>G)
c.10278A>G (p.Glu3426=)
n.4207A>G
c.10407A>G (p.Glu3469=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572281A>TCA347282639ALMS1c.10023A>T (p.Glu3341Asp)
c.3109A>T
c.7304A>T
c.4470A>T (p.Glu1490Asp)
c.7349A>T
c.10404A>T (p.Glu3468Asp)
c.558A>T (p.Glu186Asp)
c.1760A>T
c.1501A>T
c.3895A>T (n.3895A>T)
c.10278A>T (p.Glu3426Asp)
n.4207A>T
c.10407A>T (p.Glu3469Asp)
 dbSNP
2g.73572282T>ACA347282644ALMS1c.10024T>A (p.Phe3342Ile)
c.3110T>A
c.7305T>A
c.4471T>A (p.Phe1491Ile)
c.7350T>A
c.10405T>A (p.Phe3469Ile)
c.559T>A (p.Phe187Ile)
c.1761T>A
c.1502T>A
c.3896T>A (n.3896T>A)
c.10279T>A (p.Phe3427Ile)
n.4208T>A
c.10408T>A (p.Phe3470Ile)
2g.73572282T>CCA347282646ALMS1c.10024T>C (p.Phe3342Leu)
c.3110T>C
c.7305T>C
c.4471T>C (p.Phe1491Leu)
c.7350T>C
c.10405T>C (p.Phe3469Leu)
c.559T>C (p.Phe187Leu)
c.1761T>C
c.1502T>C
c.3896T>C (n.3896T>C)
c.10279T>C (p.Phe3427Leu)
n.4208T>C
c.10408T>C (p.Phe3470Leu)
2g.73572282T>GCA347282647ALMS1c.10024T>G (p.Phe3342Val)
c.3110T>G
c.7305T>G
c.4471T>G (p.Phe1491Val)
c.7350T>G
c.10405T>G (p.Phe3469Val)
c.559T>G (p.Phe187Val)
c.1761T>G
c.1502T>G
c.3896T>G (n.3896T>G)
c.10279T>G (p.Phe3427Val)
n.4208T>G
c.10408T>G (p.Phe3470Val)
2g.73572283T>ACA347282649ALMS1c.10025T>A (p.Phe3342Tyr)
c.3111T>A
c.7306T>A
c.4472T>A (p.Phe1491Tyr)
c.7351T>A
c.10406T>A (p.Phe3469Tyr)
c.560T>A (p.Phe187Tyr)
c.1762T>A
c.1503T>A
c.3897T>A (n.3897T>A)
c.10280T>A (p.Phe3427Tyr)
n.4209T>A
c.10409T>A (p.Phe3470Tyr)
2g.73572283T>CCA347282651ALMS1c.10025T>C (p.Phe3342Ser)
c.3111T>C
c.7306T>C
c.4472T>C (p.Phe1491Ser)
c.7351T>C
c.10406T>C (p.Phe3469Ser)
c.560T>C (p.Phe187Ser)
c.1762T>C
c.1503T>C
c.3897T>C (n.3897T>C)
c.10280T>C (p.Phe3427Ser)
n.4209T>C
c.10409T>C (p.Phe3470Ser)
2g.73572283T>GCA347282654ALMS1c.10025T>G (p.Phe3342Cys)
c.3111T>G
c.7306T>G
c.4472T>G (p.Phe1491Cys)
c.7351T>G
c.10406T>G (p.Phe3469Cys)
c.560T>G (p.Phe187Cys)
c.1762T>G
c.1503T>G
c.3897T>G (n.3897T>G)
c.10280T>G (p.Phe3427Cys)
n.4209T>G
c.10409T>G (p.Phe3470Cys)
2g.73572284T>ACA347282669ALMS1c.10026T>A (p.Phe3342Leu)
c.3112T>A
c.7307T>A
c.4473T>A (p.Phe1491Leu)
c.7352T>A
c.10407T>A (p.Phe3469Leu)
c.561T>A (p.Phe187Leu)
c.1763T>A
c.1504T>A
c.3898T>A (n.3898T>A)
c.10281T>A (p.Phe3427Leu)
n.4210T>A
c.10410T>A (p.Phe3470Leu)
2g.73572284T>CCA427024243ALMS1c.10026T>C (p.Phe3342=)
c.3112T>C
c.7307T>C
c.4473T>C (p.Phe1491=)
c.7352T>C
c.10407T>C (p.Phe3469=)
c.561T>C (p.Phe187=)
c.1763T>C
c.1504T>C
c.3898T>C (n.3898T>C)
c.10281T>C (p.Phe3427=)
n.4210T>C
c.10410T>C (p.Phe3470=)
 gnomAD v4
2g.73572284T>GCA347282671ALMS1c.10026T>G (p.Phe3342Leu)
c.3112T>G
c.7307T>G
c.4473T>G (p.Phe1491Leu)
c.7352T>G
c.10407T>G (p.Phe3469Leu)
c.561T>G (p.Phe187Leu)
c.1763T>G
c.1504T>G
c.3898T>G (n.3898T>G)
c.10281T>G (p.Phe3427Leu)
n.4210T>G
c.10410T>G (p.Phe3470Leu)
2g.73572285G>ACA347282674ALMS1c.10027G>A (p.Glu3343Lys)
c.3113G>A
c.7308G>A
c.4474G>A (p.Glu1492Lys)
c.7353G>A
c.10408G>A (p.Glu3470Lys)
c.562G>A (p.Glu188Lys)
c.1764G>A
c.1505G>A
c.3899G>A (n.3899G>A)
c.10282G>A (p.Glu3428Lys)
n.4211G>A
c.10411G>A (p.Glu3471Lys)
2g.73572285G>CCA347282677ALMS1c.10027G>C (p.Glu3343Gln)
c.3113G>C
c.7308G>C
c.4474G>C (p.Glu1492Gln)
c.7353G>C
c.10408G>C (p.Glu3470Gln)
c.562G>C (p.Glu188Gln)
c.1764G>C
c.1505G>C
c.3899G>C (n.3899G>C)
c.10282G>C (p.Glu3428Gln)
n.4211G>C
c.10411G>C (p.Glu3471Gln)
2g.73572285G>TCA347282679ALMS1c.10027G>T (p.Glu3343Ter)
c.3113G>T
c.7308G>T
c.4474G>T (p.Glu1492Ter)
c.7353G>T
c.10408G>T (p.Glu3470Ter)
c.562G>T (p.Glu188Ter)
c.1764G>T
c.1505G>T
c.3899G>T (n.3899G>T)
c.10282G>T (p.Glu3428Ter)
n.4211G>T
c.10411G>T (p.Glu3471Ter)
2g.73572286A=CA1261020806ALMS1c.10028A= (p.Glu3343=)
c.3114A=
c.7309A=
c.4475A= (p.Glu1492=)
c.7354A=
c.10409A= (p.Glu3470=)
c.563A= (p.Glu188=)
c.1765A=
c.1506A=
c.3900A= (n.3900A=)
c.10283A= (p.Glu3428=)
n.4212A=
c.10412A= (p.Glu3471=)
2g.73572286A>CCA347282682ALMS1c.10028A>C (p.Glu3343Ala)
c.3114A>C
c.7309A>C
c.4475A>C (p.Glu1492Ala)
c.7354A>C
c.10409A>C (p.Glu3470Ala)
c.563A>C (p.Glu188Ala)
c.1765A>C
c.1506A>C
c.3900A>C (n.3900A>C)
c.10283A>C (p.Glu3428Ala)
n.4212A>C
c.10412A>C (p.Glu3471Ala)
2g.73572286A>GCA1714999ALMS1c.10028A>G (p.Glu3343Gly)
c.3114A>G
c.7309A>G
c.4475A>G (p.Glu1492Gly)
c.7354A>G
c.10409A>G (p.Glu3470Gly)
c.563A>G (p.Glu188Gly)
c.1765A>G
c.1506A>G
c.3900A>G (n.3900A>G)
c.10283A>G (p.Glu3428Gly)
n.4212A>G
c.10412A>G (p.Glu3471Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572286A>TCA347282687ALMS1c.10028A>T (p.Glu3343Val)
c.3114A>T
c.7309A>T
c.4475A>T (p.Glu1492Val)
c.7354A>T
c.10409A>T (p.Glu3470Val)
c.563A>T (p.Glu188Val)
c.1765A>T
c.1506A>T
c.3900A>T (n.3900A>T)
c.10283A>T (p.Glu3428Val)
n.4212A>T
c.10412A>T (p.Glu3471Val)
2g.73572287A>CCA347282693ALMS1c.10029A>C (p.Glu3343Asp)
c.3115A>C
c.7310A>C
c.4476A>C (p.Glu1492Asp)
c.7355A>C
c.10410A>C (p.Glu3470Asp)
c.564A>C (p.Glu188Asp)
c.1766A>C
c.1507A>C
c.3901A>C (n.3901A>C)
c.10284A>C (p.Glu3428Asp)
n.4213A>C
c.10413A>C (p.Glu3471Asp)
2g.73572287A>GCA427024246ALMS1c.10029A>G (p.Glu3343=)
c.3115A>G
c.7310A>G
c.4476A>G (p.Glu1492=)
c.7355A>G
c.10410A>G (p.Glu3470=)
c.564A>G (p.Glu188=)
c.1766A>G
c.1507A>G
c.3901A>G (n.3901A>G)
c.10284A>G (p.Glu3428=)
n.4213A>G
c.10413A>G (p.Glu3471=)
2g.73572287A>TCA347282690ALMS1c.10029A>T (p.Glu3343Asp)
c.3115A>T
c.7310A>T
c.4476A>T (p.Glu1492Asp)
c.7355A>T
c.10410A>T (p.Glu3470Asp)
c.564A>T (p.Glu188Asp)
c.1766A>T
c.1507A>T
c.3901A>T (n.3901A>T)
c.10284A>T (p.Glu3428Asp)
n.4213A>T
c.10413A>T (p.Glu3471Asp)
2g.73572288A>CCA347282698ALMS1c.10030A>C (p.Asn3344His)
c.3116A>C
c.7311A>C
c.4477A>C (p.Asn1493His)
c.7356A>C
c.10411A>C (p.Asn3471His)
c.565A>C (p.Asn189His)
c.1767A>C
c.1508A>C
c.3902A>C (n.3902A>C)
c.10285A>C (p.Asn3429His)
n.4214A>C
c.10414A>C (p.Asn3472His)
2g.73572288A>GCA347282700ALMS1c.10030A>G (p.Asn3344Asp)
c.3116A>G
c.7311A>G
c.4477A>G (p.Asn1493Asp)
c.7356A>G
c.10411A>G (p.Asn3471Asp)
c.565A>G (p.Asn189Asp)
c.1767A>G
c.1508A>G
c.3902A>G (n.3902A>G)
c.10285A>G (p.Asn3429Asp)
n.4214A>G
c.10414A>G (p.Asn3472Asp)
2g.73572288A>TCA347282702ALMS1c.10030A>T (p.Asn3344Tyr)
c.3116A>T
c.7311A>T
c.4477A>T (p.Asn1493Tyr)
c.7356A>T
c.10411A>T (p.Asn3471Tyr)
c.565A>T (p.Asn189Tyr)
c.1767A>T
c.1508A>T
c.3902A>T (n.3902A>T)
c.10285A>T (p.Asn3429Tyr)
n.4214A>T
c.10414A>T (p.Asn3472Tyr)
2g.73572289A>CCA347282705ALMS1c.10031A>C (p.Asn3344Thr)
c.3117A>C
c.7312A>C
c.4478A>C (p.Asn1493Thr)
c.7357A>C
c.10412A>C (p.Asn3471Thr)
c.566A>C (p.Asn189Thr)
c.1768A>C
c.1509A>C
c.3903A>C (n.3903A>C)
c.10286A>C (p.Asn3429Thr)
n.4215A>C
c.10415A>C (p.Asn3472Thr)
 ClinVar dbSNP
2g.73572289A>GCA347282707ALMS1c.10031A>G (p.Asn3344Ser)
c.3117A>G
c.7312A>G
c.4478A>G (p.Asn1493Ser)
c.7357A>G
c.10412A>G (p.Asn3471Ser)
c.566A>G (p.Asn189Ser)
c.1768A>G
c.1509A>G
c.3903A>G (n.3903A>G)
c.10286A>G (p.Asn3429Ser)
n.4215A>G
c.10415A>G (p.Asn3472Ser)
2g.73572289A>TCA347282710ALMS1c.10031A>T (p.Asn3344Ile)
c.3117A>T
c.7312A>T
c.4478A>T (p.Asn1493Ile)
c.7357A>T
c.10412A>T (p.Asn3471Ile)
c.566A>T (p.Asn189Ile)
c.1768A>T
c.1509A>T
c.3903A>T (n.3903A>T)
c.10286A>T (p.Asn3429Ile)
n.4215A>T
c.10415A>T (p.Asn3472Ile)
2g.73572290T>ACA347282715ALMS1c.10032T>A (p.Asn3344Lys)
c.3118T>A
c.7313T>A
c.4479T>A (p.Asn1493Lys)
c.7358T>A
c.10413T>A (p.Asn3471Lys)
c.567T>A (p.Asn189Lys)
c.1769T>A
c.1510T>A
c.3904T>A (n.3904T>A)
c.10287T>A (p.Asn3429Lys)
n.4216T>A
c.10416T>A (p.Asn3472Lys)
2g.73572290T>CCA427024253ALMS1c.10032T>C (p.Asn3344=)
c.3118T>C
c.7313T>C
c.4479T>C (p.Asn1493=)
c.7358T>C
c.10413T>C (p.Asn3471=)
c.567T>C (p.Asn189=)
c.1769T>C
c.1510T>C
c.3904T>C (n.3904T>C)
c.10287T>C (p.Asn3429=)
n.4216T>C
c.10416T>C (p.Asn3472=)
 ClinVar
2g.73572290T>GCA347282713ALMS1c.10032T>G (p.Asn3344Lys)
c.3118T>G
c.7313T>G
c.4479T>G (p.Asn1493Lys)
c.7358T>G
c.10413T>G (p.Asn3471Lys)
c.567T>G (p.Asn189Lys)
c.1769T>G
c.1510T>G
c.3904T>G (n.3904T>G)
c.10287T>G (p.Asn3429Lys)
n.4216T>G
c.10416T>G (p.Asn3472Lys)
2g.73572293_73572295delCA2659616827ALMS1c.10035_10037del (p.Thr3346del)
c.3121_3123del
c.7316_7318del
c.4482_4484del (p.Thr1495del)
c.7361_7363del
c.10416_10418del (p.Thr3473del)
c.570_572del (p.Thr191del)
c.1772_1774del
c.1513_1515del
c.3907_3909del (n.3907_3909del)
c.10290_10292del (p.Thr3431del)
n.4219_4221del
c.10419_10421del (p.Thr3474del)
 gnomAD v4
2g.73572291A=CA1261020812ALMS1c.10033A= (p.Thr3345=)
c.3119A=
c.7314A=
c.4480A= (p.Thr1494=)
c.7359A=
c.10414A= (p.Thr3472=)
c.568A= (p.Thr190=)
c.1770A=
c.1511A=
c.3905A= (n.3905A=)
c.10288A= (p.Thr3430=)
n.4217A=
c.10417A= (p.Thr3473=)
2g.73572291A>CCA347282719ALMS1c.10033A>C (p.Thr3345Pro)
c.3119A>C
c.7314A>C
c.4480A>C (p.Thr1494Pro)
c.7359A>C
c.10414A>C (p.Thr3472Pro)
c.568A>C (p.Thr190Pro)
c.1770A>C
c.1511A>C
c.3905A>C (n.3905A>C)
c.10288A>C (p.Thr3430Pro)
n.4217A>C
c.10417A>C (p.Thr3473Pro)
2g.73572291A>GCA347282721ALMS1c.10033A>G (p.Thr3345Ala)
c.3119A>G
c.7314A>G
c.4480A>G (p.Thr1494Ala)
c.7359A>G
c.10414A>G (p.Thr3472Ala)
c.568A>G (p.Thr190Ala)
c.1770A>G
c.1511A>G
c.3905A>G (n.3905A>G)
c.10288A>G (p.Thr3430Ala)
n.4217A>G
c.10417A>G (p.Thr3473Ala)
2g.73572291A>TCA50386106ALMS1c.10033A>T (p.Thr3345Ser)
c.3119A>T
c.7314A>T
c.4480A>T (p.Thr1494Ser)
c.7359A>T
c.10414A>T (p.Thr3472Ser)
c.568A>T (p.Thr190Ser)
c.1770A>T
c.1511A>T
c.3905A>T (n.3905A>T)
c.10288A>T (p.Thr3430Ser)
n.4217A>T
c.10417A>T (p.Thr3473Ser)
 dbSNP gnomAD v4
2g.73572292C>ACA50386110ALMS1c.10034C>A (p.Thr3345Asn)
c.3120C>A
c.7315C>A
c.4481C>A (p.Thr1494Asn)
c.7360C>A
c.10415C>A (p.Thr3472Asn)
c.569C>A (p.Thr190Asn)
c.1771C>A
c.1512C>A
c.3906C>A (n.3906C>A)
c.10289C>A (p.Thr3430Asn)
n.4218C>A
c.10418C>A (p.Thr3473Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572292C=CA1261020815ALMS1c.10034C= (p.Thr3345=)
c.3120C=
c.7315C=
c.4481C= (p.Thr1494=)
c.7360C=
c.10415C= (p.Thr3472=)
c.569C= (p.Thr190=)
c.1771C=
c.1512C=
c.3906C= (n.3906C=)
c.10289C= (p.Thr3430=)
n.4218C=
c.10418C= (p.Thr3473=)
2g.73572292C>GCA347282727ALMS1c.10034C>G (p.Thr3345Ser)
c.3120C>G
c.7315C>G
c.4481C>G (p.Thr1494Ser)
c.7360C>G
c.10415C>G (p.Thr3472Ser)
c.569C>G (p.Thr190Ser)
c.1771C>G
c.1512C>G
c.3906C>G (n.3906C>G)
c.10289C>G (p.Thr3430Ser)
n.4218C>G
c.10418C>G (p.Thr3473Ser)
2g.73572292C>TCA347282729ALMS1c.10034C>T (p.Thr3345Ile)
c.3120C>T
c.7315C>T
c.4481C>T (p.Thr1494Ile)
c.7360C>T
c.10415C>T (p.Thr3472Ile)
c.569C>T (p.Thr190Ile)
c.1771C>T
c.1512C>T
c.3906C>T (n.3906C>T)
c.10289C>T (p.Thr3430Ile)
n.4218C>T
c.10418C>T (p.Thr3473Ile)
2g.73572293T>ACA427024260ALMS1c.10035T>A (p.Thr3345=)
c.3121T>A
c.7316T>A
c.4482T>A (p.Thr1494=)
c.7361T>A
c.10416T>A (p.Thr3472=)
c.570T>A (p.Thr190=)
c.1772T>A
c.1513T>A
c.3907T>A (n.3907T>A)
c.10290T>A (p.Thr3430=)
n.4219T>A
c.10419T>A (p.Thr3473=)
2g.73572293T>CCA427024259ALMS1c.10035T>C (p.Thr3345=)
c.3121T>C
c.7316T>C
c.4482T>C (p.Thr1494=)
c.7361T>C
c.10416T>C (p.Thr3472=)
c.570T>C (p.Thr190=)
c.1772T>C
c.1513T>C
c.3907T>C (n.3907T>C)
c.10290T>C (p.Thr3430=)
n.4219T>C
c.10419T>C (p.Thr3473=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572293T>GCA427024257ALMS1c.10035T>G (p.Thr3345=)
c.3121T>G
c.7316T>G
c.4482T>G (p.Thr1494=)
c.7361T>G
c.10416T>G (p.Thr3472=)
c.570T>G (p.Thr190=)
c.1772T>G
c.1513T>G
c.3907T>G (n.3907T>G)
c.10290T>G (p.Thr3430=)
n.4219T>G
c.10419T>G (p.Thr3473=)
2g.73572293T=CA1261020818ALMS1c.10035T= (p.Thr3345=)
c.3121T=
c.7316T=
c.4482T= (p.Thr1494=)
c.7361T=
c.10416T= (p.Thr3472=)
c.570T= (p.Thr190=)
c.1772T=
c.1513T=
c.3907T= (n.3907T=)
c.10290T= (p.Thr3430=)
n.4219T=
c.10419T= (p.Thr3473=)
2g.73572294A>CCA347282733ALMS1c.10036A>C (p.Thr3346Pro)
c.3122A>C
c.7317A>C
c.4483A>C (p.Thr1495Pro)
c.7362A>C
c.10417A>C (p.Thr3473Pro)
c.571A>C (p.Thr191Pro)
c.1773A>C
c.1514A>C
c.3908A>C (n.3908A>C)
c.10291A>C (p.Thr3431Pro)
n.4220A>C
c.10420A>C (p.Thr3474Pro)
2g.73572294A>GCA347282738ALMS1c.10036A>G (p.Thr3346Ala)
c.3122A>G
c.7317A>G
c.4483A>G (p.Thr1495Ala)
c.7362A>G
c.10417A>G (p.Thr3473Ala)
c.571A>G (p.Thr191Ala)
c.1773A>G
c.1514A>G
c.3908A>G (n.3908A>G)
c.10291A>G (p.Thr3431Ala)
n.4220A>G
c.10420A>G (p.Thr3474Ala)
2g.73572294A>TCA347282735ALMS1c.10036A>T (p.Thr3346Ser)
c.3122A>T
c.7317A>T
c.4483A>T (p.Thr1495Ser)
c.7362A>T
c.10417A>T (p.Thr3473Ser)
c.571A>T (p.Thr191Ser)
c.1773A>T
c.1514A>T
c.3908A>T (n.3908A>T)
c.10291A>T (p.Thr3431Ser)
n.4220A>T
c.10420A>T (p.Thr3474Ser)
 ClinVar dbSNP
2g.73572295C>ACA347282742ALMS1c.10037C>A (p.Thr3346Asn)
c.3123C>A
c.7318C>A
c.4484C>A (p.Thr1495Asn)
c.7363C>A
c.10418C>A (p.Thr3473Asn)
c.572C>A (p.Thr191Asn)
c.1774C>A
c.1515C>A
c.3909C>A (n.3909C>A)
c.10292C>A (p.Thr3431Asn)
n.4221C>A
c.10421C>A (p.Thr3474Asn)
2g.73572295C>GCA347282748ALMS1c.10037C>G (p.Thr3346Ser)
c.3123C>G
c.7318C>G
c.4484C>G (p.Thr1495Ser)
c.7363C>G
c.10418C>G (p.Thr3473Ser)
c.572C>G (p.Thr191Ser)
c.1774C>G
c.1515C>G
c.3909C>G (n.3909C>G)
c.10292C>G (p.Thr3431Ser)
n.4221C>G
c.10421C>G (p.Thr3474Ser)
2g.73572295C>TCA347282745ALMS1c.10037C>T (p.Thr3346Ile)
c.3123C>T
c.7318C>T
c.4484C>T (p.Thr1495Ile)
c.7363C>T
c.10418C>T (p.Thr3473Ile)
c.572C>T (p.Thr191Ile)
c.1774C>T
c.1515C>T
c.3909C>T (n.3909C>T)
c.10292C>T (p.Thr3431Ile)
n.4221C>T
c.10421C>T (p.Thr3474Ile)
 gnomAD v4
2g.73572296C>ACA427024264ALMS1c.10038C>A (p.Thr3346=)
c.3124C>A
c.7319C>A
c.4485C>A (p.Thr1495=)
c.7364C>A
c.10419C>A (p.Thr3473=)
c.573C>A (p.Thr191=)
c.1775C>A
c.1516C>A
c.3910C>A (n.3910C>A)
c.10293C>A (p.Thr3431=)
n.4222C>A
c.10422C>A (p.Thr3474=)
2g.73572296C>GCA427024266ALMS1c.10038C>G (p.Thr3346=)
c.3124C>G
c.7319C>G
c.4485C>G (p.Thr1495=)
c.7364C>G
c.10419C>G (p.Thr3473=)
c.573C>G (p.Thr191=)
c.1775C>G
c.1516C>G
c.3910C>G (n.3910C>G)
c.10293C>G (p.Thr3431=)
n.4222C>G
c.10422C>G (p.Thr3474=)
2g.73572296C>TCA427024265ALMS1c.10038C>T (p.Thr3346=)
c.3124C>T
c.7319C>T
c.4485C>T (p.Thr1495=)
c.7364C>T
c.10419C>T (p.Thr3473=)
c.573C>T (p.Thr191=)
c.1775C>T
c.1516C>T
c.3910C>T (n.3910C>T)
c.10293C>T (p.Thr3431=)
n.4222C>T
c.10422C>T (p.Thr3474=)
 gnomAD v4
2g.73572297C>ACA347282750ALMS1c.10039C>A (p.Arg3347Ser)
c.3125C>A
c.7320C>A
c.4486C>A (p.Arg1496Ser)
c.7365C>A
c.10420C>A (p.Arg3474Ser)
c.574C>A (p.Arg192Ser)
c.1776C>A
c.1517C>A
c.3911C>A (n.3911C>A)
c.10294C>A (p.Arg3432Ser)
n.4223C>A
c.10423C>A (p.Arg3475Ser)
2g.73572297C=CA1261020820ALMS1c.10039C= (p.Arg3347=)
c.3125C=
c.7320C=
c.4486C= (p.Arg1496=)
c.7365C=
c.10420C= (p.Arg3474=)
c.574C= (p.Arg192=)
c.1776C=
c.1517C=
c.3911C= (n.3911C=)
c.10294C= (p.Arg3432=)
n.4223C=
c.10423C= (p.Arg3475=)
2g.73572297C>GCA347282753ALMS1c.10039C>G (p.Arg3347Gly)
c.3125C>G
c.7320C>G
c.4486C>G (p.Arg1496Gly)
c.7365C>G
c.10420C>G (p.Arg3474Gly)
c.574C>G (p.Arg192Gly)
c.1776C>G
c.1517C>G
c.3911C>G (n.3911C>G)
c.10294C>G (p.Arg3432Gly)
n.4223C>G
c.10423C>G (p.Arg3475Gly)
 gnomAD v4
2g.73572297C>TCA1715000ALMS1c.10039C>T (p.Arg3347Cys)
c.3125C>T
c.7320C>T
c.4486C>T (p.Arg1496Cys)
c.7365C>T
c.10420C>T (p.Arg3474Cys)
c.574C>T (p.Arg192Cys)
c.1776C>T
c.1517C>T
c.3911C>T (n.3911C>T)
c.10294C>T (p.Arg3432Cys)
n.4223C>T
c.10423C>T (p.Arg3475Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572298delCA2573135798ALMS1c.10040del (p.Arg3347LeufsTer?)
c.3126del
c.7321del
c.4487del (p.Arg1496LeufsTer?)
c.7366del
c.10421del (p.Arg3474LeufsTer?)
c.575del (p.Arg192LeufsTer?)
c.1777del
c.1518del
c.3912del (n.3912del)
c.10295del (p.Arg3432LeufsTer?)
n.4224del
c.10424del (p.Arg3475LeufsTer?)
 ClinVar dbSNP
2g.73572298G>ACA1715001ALMS1c.10040G>A (p.Arg3347His)
c.3126G>A
c.7321G>A
c.4487G>A (p.Arg1496His)
c.7366G>A
c.10421G>A (p.Arg3474His)
c.575G>A (p.Arg192His)
c.1777G>A
c.1518G>A
c.3912G>A (n.3912G>A)
c.10295G>A (p.Arg3432His)
n.4224G>A
c.10424G>A (p.Arg3475His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572298G>CCA347282759ALMS1c.10040G>C (p.Arg3347Pro)
c.3126G>C
c.7321G>C
c.4487G>C (p.Arg1496Pro)
c.7366G>C
c.10421G>C (p.Arg3474Pro)
c.575G>C (p.Arg192Pro)
c.1777G>C
c.1518G>C
c.3912G>C (n.3912G>C)
c.10295G>C (p.Arg3432Pro)
n.4224G>C
c.10424G>C (p.Arg3475Pro)
2g.73572298G=CA1261020826ALMS1c.10040G= (p.Arg3347=)
c.3126G=
c.7321G=
c.4487G= (p.Arg1496=)
c.7366G=
c.10421G= (p.Arg3474=)
c.575G= (p.Arg192=)
c.1777G=
c.1518G=
c.3912G= (n.3912G=)
c.10295G= (p.Arg3432=)
n.4224G=
c.10424G= (p.Arg3475=)
2g.73572298G>TCA50386118ALMS1c.10040G>T (p.Arg3347Leu)
c.3126G>T
c.7321G>T
c.4487G>T (p.Arg1496Leu)
c.7366G>T
c.10421G>T (p.Arg3474Leu)
c.575G>T (p.Arg192Leu)
c.1777G>T
c.1518G>T
c.3912G>T (n.3912G>T)
c.10295G>T (p.Arg3432Leu)
n.4224G>T
c.10424G>T (p.Arg3475Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.73572299T>ACA427024271ALMS1c.10041T>A (p.Arg3347=)
c.3127T>A
c.7322T>A
c.4488T>A (p.Arg1496=)
c.7367T>A
c.10422T>A (p.Arg3474=)
c.576T>A (p.Arg192=)
c.1778T>A
c.1519T>A
c.3913T>A (n.3913T>A)
c.10296T>A (p.Arg3432=)
n.4225T>A
c.10425T>A (p.Arg3475=)
2g.73572299T>CCA427024272ALMS1c.10041T>C (p.Arg3347=)
c.3127T>C
c.7322T>C
c.4488T>C (p.Arg1496=)
c.7367T>C
c.10422T>C (p.Arg3474=)
c.576T>C (p.Arg192=)
c.1778T>C
c.1519T>C
c.3913T>C (n.3913T>C)
c.10296T>C (p.Arg3432=)
n.4225T>C
c.10425T>C (p.Arg3475=)
2g.73572299T>GCA427024273ALMS1c.10041T>G (p.Arg3347=)
c.3127T>G
c.7322T>G
c.4488T>G (p.Arg1496=)
c.7367T>G
c.10422T>G (p.Arg3474=)
c.576T>G (p.Arg192=)
c.1778T>G
c.1519T>G
c.3913T>G (n.3913T>G)
c.10296T>G (p.Arg3432=)
n.4225T>G
c.10425T>G (p.Arg3475=)
2g.73572300T>ACA347282763ALMS1c.10042T>A (p.Ser3348Thr)
c.3128T>A
c.7323T>A
c.4489T>A (p.Ser1497Thr)
c.7368T>A
c.10423T>A (p.Ser3475Thr)
c.577T>A (p.Ser193Thr)
c.1779T>A
c.1520T>A
c.3914T>A (n.3914T>A)
c.10297T>A (p.Ser3433Thr)
n.4226T>A
c.10426T>A (p.Ser3476Thr)
2g.73572300T>CCA347282766ALMS1c.10042T>C (p.Ser3348Pro)
c.3128T>C
c.7323T>C
c.4489T>C (p.Ser1497Pro)
c.7368T>C
c.10423T>C (p.Ser3475Pro)
c.577T>C (p.Ser193Pro)
c.1779T>C
c.1520T>C
c.3914T>C (n.3914T>C)
c.10297T>C (p.Ser3433Pro)
n.4226T>C
c.10426T>C (p.Ser3476Pro)
2g.73572300T>GCA347282767ALMS1c.10042T>G (p.Ser3348Ala)
c.3128T>G
c.7323T>G
c.4489T>G (p.Ser1497Ala)
c.7368T>G
c.10423T>G (p.Ser3475Ala)
c.577T>G (p.Ser193Ala)
c.1779T>G
c.1520T>G
c.3914T>G (n.3914T>G)
c.10297T>G (p.Ser3433Ala)
n.4226T>G
c.10426T>G (p.Ser3476Ala)
2g.73572301C>ACA347282771ALMS1c.10043C>A (p.Ser3348Tyr)
c.3129C>A
c.7324C>A
c.4490C>A (p.Ser1497Tyr)
c.7369C>A
c.10424C>A (p.Ser3475Tyr)
c.578C>A (p.Ser193Tyr)
c.1780C>A
c.1521C>A
c.3915C>A (n.3915C>A)
c.10298C>A (p.Ser3433Tyr)
n.4227C>A
c.10427C>A (p.Ser3476Tyr)
2g.73572301C=CA1261020830ALMS1c.10043C= (p.Ser3348=)
c.3129C=
c.7324C=
c.4490C= (p.Ser1497=)
c.7369C=
c.10424C= (p.Ser3475=)
c.578C= (p.Ser193=)
c.1780C=
c.1521C=
c.3915C= (n.3915C=)
c.10298C= (p.Ser3433=)
n.4227C=
c.10427C= (p.Ser3476=)
2g.73572301C>GCA347282773ALMS1c.10043C>G (p.Ser3348Cys)
c.3129C>G
c.7324C>G
c.4490C>G (p.Ser1497Cys)
c.7369C>G
c.10424C>G (p.Ser3475Cys)
c.578C>G (p.Ser193Cys)
c.1780C>G
c.1521C>G
c.3915C>G (n.3915C>G)
c.10298C>G (p.Ser3433Cys)
n.4227C>G
c.10427C>G (p.Ser3476Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572301C>TCA347282775ALMS1c.10043C>T (p.Ser3348Phe)
c.3129C>T
c.7324C>T
c.4490C>T (p.Ser1497Phe)
c.7369C>T
c.10424C>T (p.Ser3475Phe)
c.578C>T (p.Ser193Phe)
c.1780C>T
c.1521C>T
c.3915C>T (n.3915C>T)
c.10298C>T (p.Ser3433Phe)
n.4227C>T
c.10427C>T (p.Ser3476Phe)
2g.73572302T>ACA427024275ALMS1c.10044T>A (p.Ser3348=)
c.3130T>A
c.7325T>A
c.4491T>A (p.Ser1497=)
c.7370T>A
c.10425T>A (p.Ser3475=)
c.579T>A (p.Ser193=)
c.1781T>A
c.1522T>A
c.3916T>A (n.3916T>A)
c.10299T>A (p.Ser3433=)
n.4228T>A
c.10428T>A (p.Ser3476=)
2g.73572302T>CCA1715002ALMS1c.10044T>C (p.Ser3348=)
c.3130T>C
c.7325T>C
c.4491T>C (p.Ser1497=)
c.7370T>C
c.10425T>C (p.Ser3475=)
c.579T>C (p.Ser193=)
c.1781T>C
c.1522T>C
c.3916T>C (n.3916T>C)
c.10299T>C (p.Ser3433=)
n.4228T>C
c.10428T>C (p.Ser3476=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572302T>GCA427024276ALMS1c.10044T>G (p.Ser3348=)
c.3130T>G
c.7325T>G
c.4491T>G (p.Ser1497=)
c.7370T>G
c.10425T>G (p.Ser3475=)
c.579T>G (p.Ser193=)
c.1781T>G
c.1522T>G
c.3916T>G (n.3916T>G)
c.10299T>G (p.Ser3433=)
n.4228T>G
c.10428T>G (p.Ser3476=)
 ClinVar
2g.73572302T=CA1261020832ALMS1c.10044T= (p.Ser3348=)
c.3130T=
c.7325T=
c.4491T= (p.Ser1497=)
c.7370T=
c.10425T= (p.Ser3475=)
c.579T= (p.Ser193=)
c.1781T=
c.1522T=
c.3916T= (n.3916T=)
c.10299T= (p.Ser3433=)
n.4228T=
c.10428T= (p.Ser3476=)
2g.73572303G>ACA347282778ALMS1c.10045G>A (p.Val3349Ile)
c.3131G>A
c.7326G>A
c.4492G>A (p.Val1498Ile)
c.7371G>A
c.10426G>A (p.Val3476Ile)
c.580G>A (p.Val194Ile)
c.1782G>A
c.1523G>A
c.3917G>A (n.3917G>A)
c.10300G>A (p.Val3434Ile)
n.4229G>A
c.10429G>A (p.Val3477Ile)
2g.73572303G>CCA347282780ALMS1c.10045G>C (p.Val3349Leu)
c.3131G>C
c.7326G>C
c.4492G>C (p.Val1498Leu)
c.7371G>C
c.10426G>C (p.Val3476Leu)
c.580G>C (p.Val194Leu)
c.1782G>C
c.1523G>C
c.3917G>C (n.3917G>C)
c.10300G>C (p.Val3434Leu)
n.4229G>C
c.10429G>C (p.Val3477Leu)
 gnomAD v4
2g.73572303G>TCA347282782ALMS1c.10045G>T (p.Val3349Phe)
c.3131G>T
c.7326G>T
c.4492G>T (p.Val1498Phe)
c.7371G>T
c.10426G>T (p.Val3476Phe)
c.580G>T (p.Val194Phe)
c.1782G>T
c.1523G>T
c.3917G>T (n.3917G>T)
c.10300G>T (p.Val3434Phe)
n.4229G>T
c.10429G>T (p.Val3477Phe)
2g.73572303_73572304delinsGTCA1261020838ALMS1c.10045_10046delinsGT (p.Val3349=)
c.3131_3132delinsGT
c.7326_7327delinsGT
c.4492_4493delinsGT (p.Val1498=)
c.7371_7372delinsGT
c.10426_10427delinsGT (p.Val3476=)
c.580_581delinsGT (p.Val194=)
c.1782_1783delinsGT
c.1523_1524delinsGT
c.3917_3918delinsGT (n.3917_3918delinsGT)
c.10300_10301delinsGT (p.Val3434=)
n.4229_4230delinsGT
c.10429_10430delinsGT (p.Val3477=)
2g.73572304delCA1139657122ALMS1c.10046del (p.Val3349AlafsTer?)
c.3132del
c.7327del
c.4493del (p.Val1498AlafsTer?)
c.7372del
c.10427del (p.Val3476AlafsTer?)
c.581del (p.Val194AlafsTer?)
c.1783del
c.1524del
c.3918del (n.3918del)
c.10301del (p.Val3434AlafsTer?)
n.4230del
c.10430del (p.Val3477AlafsTer?)
 ClinVar dbSNP
2g.73572304T>ACA347282784ALMS1c.10046T>A (p.Val3349Asp)
c.3132T>A
c.7327T>A
c.4493T>A (p.Val1498Asp)
c.7372T>A
c.10427T>A (p.Val3476Asp)
c.581T>A (p.Val194Asp)
c.1783T>A
c.1524T>A
c.3918T>A (n.3918T>A)
c.10301T>A (p.Val3434Asp)
n.4230T>A
c.10430T>A (p.Val3477Asp)
 gnomAD v4
2g.73572304T>CCA50386125ALMS1c.10046T>C (p.Val3349Ala)
c.3132T>C
c.7327T>C
c.4493T>C (p.Val1498Ala)
c.7372T>C
c.10427T>C (p.Val3476Ala)
c.581T>C (p.Val194Ala)
c.1783T>C
c.1524T>C
c.3918T>C (n.3918T>C)
c.10301T>C (p.Val3434Ala)
n.4230T>C
c.10430T>C (p.Val3477Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572304T>GCA1715003ALMS1c.10046T>G (p.Val3349Gly)
c.3132T>G
c.7327T>G
c.4493T>G (p.Val1498Gly)
c.7372T>G
c.10427T>G (p.Val3476Gly)
c.581T>G (p.Val194Gly)
c.1783T>G
c.1524T>G
c.3918T>G (n.3918T>G)
c.10301T>G (p.Val3434Gly)
n.4230T>G
c.10430T>G (p.Val3477Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572304T=CA1261020850ALMS1c.10046T= (p.Val3349=)
c.3132T=
c.7327T=
c.4493T= (p.Val1498=)
c.7372T=
c.10427T= (p.Val3476=)
c.581T= (p.Val194=)
c.1783T=
c.1524T=
c.3918T= (n.3918T=)
c.10301T= (p.Val3434=)
n.4230T=
c.10430T= (p.Val3477=)
2g.73572305C>ACA427024281ALMS1c.10047C>A (p.Val3349=)
c.3133C>A
c.7328C>A
c.4494C>A (p.Val1498=)
c.7373C>A
c.10428C>A (p.Val3476=)
c.582C>A (p.Val194=)
c.1784C>A
c.1525C>A
c.3919C>A (n.3919C>A)
c.10302C>A (p.Val3434=)
n.4231C>A
c.10431C>A (p.Val3477=)
2g.73572305C>GCA427024283ALMS1c.10047C>G (p.Val3349=)
c.3133C>G
c.7328C>G
c.4494C>G (p.Val1498=)
c.7373C>G
c.10428C>G (p.Val3476=)
c.582C>G (p.Val194=)
c.1784C>G
c.1525C>G
c.3919C>G (n.3919C>G)
c.10302C>G (p.Val3434=)
n.4231C>G
c.10431C>G (p.Val3477=)
2g.73572305C>TCA427024286ALMS1c.10047C>T (p.Val3349=)
c.3133C>T
c.7328C>T
c.4494C>T (p.Val1498=)
c.7373C>T
c.10428C>T (p.Val3476=)
c.582C>T (p.Val194=)
c.1784C>T
c.1525C>T
c.3919C>T (n.3919C>T)
c.10302C>T (p.Val3434=)
n.4231C>T
c.10431C>T (p.Val3477=)
2g.73572306T>ACA347282790ALMS1c.10048T>A (p.Phe3350Ile)
c.3134T>A
c.7329T>A
c.4495T>A (p.Phe1499Ile)
c.7374T>A
c.10429T>A (p.Phe3477Ile)
c.583T>A (p.Phe195Ile)
c.1785T>A
c.1526T>A
c.3920T>A (n.3920T>A)
c.10303T>A (p.Phe3435Ile)
n.4232T>A
c.10432T>A (p.Phe3478Ile)
2g.73572306T>CCA347282793ALMS1c.10048T>C (p.Phe3350Leu)
c.3134T>C
c.7329T>C
c.4495T>C (p.Phe1499Leu)
c.7374T>C
c.10429T>C (p.Phe3477Leu)
c.583T>C (p.Phe195Leu)
c.1785T>C
c.1526T>C
c.3920T>C (n.3920T>C)
c.10303T>C (p.Phe3435Leu)
n.4232T>C
c.10432T>C (p.Phe3478Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.73572306T>GCA347282796ALMS1c.10048T>G (p.Phe3350Val)
c.3134T>G
c.7329T>G
c.4495T>G (p.Phe1499Val)
c.7374T>G
c.10429T>G (p.Phe3477Val)
c.583T>G (p.Phe195Val)
c.1785T>G
c.1526T>G
c.3920T>G (n.3920T>G)
c.10303T>G (p.Phe3435Val)
n.4232T>G
c.10432T>G (p.Phe3478Val)
2g.73572306T=CA1261020856ALMS1c.10048T= (p.Phe3350=)
c.3134T=
c.7329T=
c.4495T= (p.Phe1499=)
c.7374T=
c.10429T= (p.Phe3477=)
c.583T= (p.Phe195=)
c.1785T=
c.1526T=
c.3920T= (n.3920T=)
c.10303T= (p.Phe3435=)
n.4232T=
c.10432T= (p.Phe3478=)
2g.73572307T>ACA347282799ALMS1c.10049T>A (p.Phe3350Tyr)
c.3135T>A
c.7330T>A
c.4496T>A (p.Phe1499Tyr)
c.7375T>A
c.10430T>A (p.Phe3477Tyr)
c.584T>A (p.Phe195Tyr)
c.1786T>A
c.1527T>A
c.3921T>A (n.3921T>A)
c.10304T>A (p.Phe3435Tyr)
n.4233T>A
c.10433T>A (p.Phe3478Tyr)
2g.73572307T>CCA347282802ALMS1c.10049T>C (p.Phe3350Ser)
c.3135T>C
c.7330T>C
c.4496T>C (p.Phe1499Ser)
c.7375T>C
c.10430T>C (p.Phe3477Ser)
c.584T>C (p.Phe195Ser)
c.1786T>C
c.1527T>C
c.3921T>C (n.3921T>C)
c.10304T>C (p.Phe3435Ser)
n.4233T>C
c.10433T>C (p.Phe3478Ser)
2g.73572307T>GCA347282803ALMS1c.10049T>G (p.Phe3350Cys)
c.3135T>G
c.7330T>G
c.4496T>G (p.Phe1499Cys)
c.7375T>G
c.10430T>G (p.Phe3477Cys)
c.584T>G (p.Phe195Cys)
c.1786T>G
c.1527T>G
c.3921T>G (n.3921T>G)
c.10304T>G (p.Phe3435Cys)
n.4233T>G
c.10433T>G (p.Phe3478Cys)
2g.73572308C>ACA347282808ALMS1c.10050C>A (p.Phe3350Leu)
c.3136C>A
c.7331C>A
c.4497C>A (p.Phe1499Leu)
c.7376C>A
c.10431C>A (p.Phe3477Leu)
c.585C>A (p.Phe195Leu)
c.1787C>A
c.1528C>A
c.3922C>A (n.3922C>A)
c.10305C>A (p.Phe3435Leu)
n.4234C>A
c.10434C>A (p.Phe3478Leu)
2g.73572308C>GCA347282806ALMS1c.10050C>G (p.Phe3350Leu)
c.3136C>G
c.7331C>G
c.4497C>G (p.Phe1499Leu)
c.7376C>G
c.10431C>G (p.Phe3477Leu)
c.585C>G (p.Phe195Leu)
c.1787C>G
c.1528C>G
c.3922C>G (n.3922C>G)
c.10305C>G (p.Phe3435Leu)
n.4234C>G
c.10434C>G (p.Phe3478Leu)
2g.73572308C>TCA427024291ALMS1c.10050C>T (p.Phe3350=)
c.3136C>T
c.7331C>T
c.4497C>T (p.Phe1499=)
c.7376C>T
c.10431C>T (p.Phe3477=)
c.585C>T (p.Phe195=)
c.1787C>T
c.1528C>T
c.3922C>T (n.3922C>T)
c.10305C>T (p.Phe3435=)
n.4234C>T
c.10434C>T (p.Phe3478=)
2g.73572309A>CCA427024292ALMS1c.10051A>C (p.Arg3351=)
c.3137A>C
c.7332A>C
c.4498A>C (p.Arg1500=)
c.7377A>C
c.10432A>C (p.Arg3478=)
c.586A>C (p.Arg196=)
c.1788A>C
c.1529A>C
c.3923A>C (n.3923A>C)
c.10306A>C (p.Arg3436=)
n.4235A>C
c.10435A>C (p.Arg3479=)
 gnomAD v4
2g.73572309A>GCA347282812ALMS1c.10051A>G (p.Arg3351Gly)
c.3137A>G
c.7332A>G
c.4498A>G (p.Arg1500Gly)
c.7377A>G
c.10432A>G (p.Arg3478Gly)
c.586A>G (p.Arg196Gly)
c.1788A>G
c.1529A>G
c.3923A>G (n.3923A>G)
c.10306A>G (p.Arg3436Gly)
n.4235A>G
c.10435A>G (p.Arg3479Gly)
2g.73572309A>TCA347282814ALMS1c.10051A>T (p.Arg3351Trp)
c.3137A>T
c.7332A>T
c.4498A>T (p.Arg1500Trp)
c.7377A>T
c.10432A>T (p.Arg3478Trp)
c.586A>T (p.Arg196Trp)
c.1788A>T
c.1529A>T
c.3923A>T (n.3923A>T)
c.10306A>T (p.Arg3436Trp)
n.4235A>T
c.10435A>T (p.Arg3479Trp)
2g.73572310G>ACA50386134ALMS1c.10052G>A (p.Arg3351Lys)
c.3138G>A
c.7333G>A
c.4499G>A (p.Arg1500Lys)
c.7378G>A
c.10433G>A (p.Arg3478Lys)
c.587G>A (p.Arg196Lys)
c.1789G>A
c.1530G>A
c.3924G>A (n.3924G>A)
c.10307G>A (p.Arg3436Lys)
n.4236G>A
c.10436G>A (p.Arg3479Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572310G>CCA347282819ALMS1c.10052G>C (p.Arg3351Thr)
c.3138G>C
c.7333G>C
c.4499G>C (p.Arg1500Thr)
c.7378G>C
c.10433G>C (p.Arg3478Thr)
c.587G>C (p.Arg196Thr)
c.1789G>C
c.1530G>C
c.3924G>C (n.3924G>C)
c.10307G>C (p.Arg3436Thr)
n.4236G>C
c.10436G>C (p.Arg3479Thr)
2g.73572310G=CA1261020865ALMS1c.10052G= (p.Arg3351=)
c.3138G=
c.7333G=
c.4499G= (p.Arg1500=)
c.7378G=
c.10433G= (p.Arg3478=)
c.587G= (p.Arg196=)
c.1789G=
c.1530G=
c.3924G= (n.3924G=)
c.10307G= (p.Arg3436=)
n.4236G=
c.10436G= (p.Arg3479=)
2g.73572310G>TCA347282821ALMS1c.10052G>T (p.Arg3351Met)
c.3138G>T
c.7333G>T
c.4499G>T (p.Arg1500Met)
c.7378G>T
c.10433G>T (p.Arg3478Met)
c.587G>T (p.Arg196Met)
c.1789G>T
c.1530G>T
c.3924G>T (n.3924G>T)
c.10307G>T (p.Arg3436Met)
n.4236G>T
c.10436G>T (p.Arg3479Met)
2g.73572311G>ACA427024297ALMS1c.10053G>A (p.Arg3351=)
c.3139G>A
c.7334G>A
c.4500G>A (p.Arg1500=)
c.7379G>A
c.10434G>A (p.Arg3478=)
c.588G>A (p.Arg196=)
c.1790G>A
c.1531G>A
c.3925G>A (n.3925G>A)
c.10308G>A (p.Arg3436=)
n.4237G>A
c.10437G>A (p.Arg3479=)
2g.73572311G>CCA347282825ALMS1c.10053G>C (p.Arg3351Ser)
c.3139G>C
c.7334G>C
c.4500G>C (p.Arg1500Ser)
c.7379G>C
c.10434G>C (p.Arg3478Ser)
c.588G>C (p.Arg196Ser)
c.1790G>C
c.1531G>C
c.3925G>C (n.3925G>C)
c.10308G>C (p.Arg3436Ser)
n.4237G>C
c.10437G>C (p.Arg3479Ser)
2g.73572311G>TCA347282827ALMS1c.10053G>T (p.Arg3351Ser)
c.3139G>T
c.7334G>T
c.4500G>T (p.Arg1500Ser)
c.7379G>T
c.10434G>T (p.Arg3478Ser)
c.588G>T (p.Arg196Ser)
c.1790G>T
c.1531G>T
c.3925G>T (n.3925G>T)
c.10308G>T (p.Arg3436Ser)
n.4237G>T
c.10437G>T (p.Arg3479Ser)
2g.73572312T>ACA347282830ALMS1c.10054T>A (p.Ser3352Thr)
c.3140T>A
c.7335T>A
c.4501T>A (p.Ser1501Thr)
c.7380T>A
c.10435T>A (p.Ser3479Thr)
c.589T>A (p.Ser197Thr)
c.1791T>A
c.1532T>A
c.3926T>A (n.3926T>A)
c.10309T>A (p.Ser3437Thr)
n.4238T>A
c.10438T>A (p.Ser3480Thr)
2g.73572312T>CCA347282833ALMS1c.10054T>C (p.Ser3352Pro)
c.3140T>C
c.7335T>C
c.4501T>C (p.Ser1501Pro)
c.7380T>C
c.10435T>C (p.Ser3479Pro)
c.589T>C (p.Ser197Pro)
c.1791T>C
c.1532T>C
c.3926T>C (n.3926T>C)
c.10309T>C (p.Ser3437Pro)
n.4238T>C
c.10438T>C (p.Ser3480Pro)
2g.73572312T>GCA347282835ALMS1c.10054T>G (p.Ser3352Ala)
c.3140T>G
c.7335T>G
c.4501T>G (p.Ser1501Ala)
c.7380T>G
c.10435T>G (p.Ser3479Ala)
c.589T>G (p.Ser197Ala)
c.1791T>G
c.1532T>G
c.3926T>G (n.3926T>G)
c.10309T>G (p.Ser3437Ala)
n.4238T>G
c.10438T>G (p.Ser3480Ala)
 gnomAD v4
2g.73572313C>ACA347282836ALMS1c.10055C>A (p.Ser3352Ter)
c.3141C>A
c.7336C>A
c.4502C>A (p.Ser1501Ter)
c.7381C>A
c.10436C>A (p.Ser3479Ter)
c.590C>A (p.Ser197Ter)
c.1792C>A
c.1533C>A
c.3927C>A (n.3927C>A)
c.10310C>A (p.Ser3437Ter)
n.4239C>A
c.10439C>A (p.Ser3480Ter)
 gnomAD v4
2g.73572313C>GCA347282838ALMS1c.10055C>G (p.Ser3352Ter)
c.3141C>G
c.7336C>G
c.4502C>G (p.Ser1501Ter)
c.7381C>G
c.10436C>G (p.Ser3479Ter)
c.590C>G (p.Ser197Ter)
c.1792C>G
c.1533C>G
c.3927C>G (n.3927C>G)
c.10310C>G (p.Ser3437Ter)
n.4239C>G
c.10439C>G (p.Ser3480Ter)
 gnomAD v4
2g.73572313C>TCA347282841ALMS1c.10055C>T (p.Ser3352Leu)
c.3141C>T
c.7336C>T
c.4502C>T (p.Ser1501Leu)
c.7381C>T
c.10436C>T (p.Ser3479Leu)
c.590C>T (p.Ser197Leu)
c.1792C>T
c.1533C>T
c.3927C>T (n.3927C>T)
c.10310C>T (p.Ser3437Leu)
n.4239C>T
c.10439C>T (p.Ser3480Leu)
 gnomAD v4
2g.73572313_73572316delCA2695200830ALMS1c.10055_10058del (p.Ser3352Ter)
c.3141_3144del
c.7336_7339del
c.4502_4505del (p.Ser1501Ter)
c.7381_7384del
c.10436_10439del (p.Ser3479Ter)
c.590_593del (p.Ser197Ter)
c.1792_1795del
c.1533_1536del
c.3927_3930del (n.3927_3930del)
c.10310_10313del (p.Ser3437Ter)
n.4239_4242del
c.10439_10442del (p.Ser3480Ter)
 ClinVar
2g.73572314A>CCA427024307ALMS1c.10056A>C (p.Ser3352=)
c.3142A>C
c.7337A>C
c.4503A>C (p.Ser1501=)
c.7382A>C
c.10437A>C (p.Ser3479=)
c.591A>C (p.Ser197=)
c.1793A>C
c.1534A>C
c.3928A>C (n.3928A>C)
c.10311A>C (p.Ser3437=)
n.4240A>C
c.10440A>C (p.Ser3480=)
 gnomAD v4
2g.73572314A>GCA427024309ALMS1c.10056A>G (p.Ser3352=)
c.3142A>G
c.7337A>G
c.4503A>G (p.Ser1501=)
c.7382A>G
c.10437A>G (p.Ser3479=)
c.591A>G (p.Ser197=)
c.1793A>G
c.1534A>G
c.3928A>G (n.3928A>G)
c.10311A>G (p.Ser3437=)
n.4240A>G
c.10440A>G (p.Ser3480=)
2g.73572314A>TCA427024310ALMS1c.10056A>T (p.Ser3352=)
c.3142A>T
c.7337A>T
c.4503A>T (p.Ser1501=)
c.7382A>T
c.10437A>T (p.Ser3479=)
c.591A>T (p.Ser197=)
c.1793A>T
c.1534A>T
c.3928A>T (n.3928A>T)
c.10311A>T (p.Ser3437=)
n.4240A>T
c.10440A>T (p.Ser3480=)
2g.73572315G>ACA1715004ALMS1c.10057G>A (p.Ala3353Thr)
c.3143G>A
c.7338G>A
c.4504G>A (p.Ala1502Thr)
c.7383G>A
c.10438G>A (p.Ala3480Thr)
c.592G>A (p.Ala198Thr)
c.1794G>A
c.1535G>A
c.3929G>A (n.3929G>A)
c.10312G>A (p.Ala3438Thr)
n.4241G>A
c.10441G>A (p.Ala3481Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572315G>CCA347282845ALMS1c.10057G>C (p.Ala3353Pro)
c.3143G>C
c.7338G>C
c.4504G>C (p.Ala1502Pro)
c.7383G>C
c.10438G>C (p.Ala3480Pro)
c.592G>C (p.Ala198Pro)
c.1794G>C
c.1535G>C
c.3929G>C (n.3929G>C)
c.10312G>C (p.Ala3438Pro)
n.4241G>C
c.10441G>C (p.Ala3481Pro)
2g.73572315G=CA1261020869ALMS1c.10057G= (p.Ala3353=)
c.3143G=
c.7338G=
c.4504G= (p.Ala1502=)
c.7383G=
c.10438G= (p.Ala3480=)
c.592G= (p.Ala198=)
c.1794G=
c.1535G=
c.3929G= (n.3929G=)
c.10312G= (p.Ala3438=)
n.4241G=
c.10441G= (p.Ala3481=)
2g.73572315G>TCA347282847ALMS1c.10057G>T (p.Ala3353Ser)
c.3143G>T
c.7338G>T
c.4504G>T (p.Ala1502Ser)
c.7383G>T
c.10438G>T (p.Ala3480Ser)
c.592G>T (p.Ala198Ser)
c.1794G>T
c.1535G>T
c.3929G>T (n.3929G>T)
c.10312G>T (p.Ala3438Ser)
n.4241G>T
c.10441G>T (p.Ala3481Ser)
2g.73572316C>ACA347282852ALMS1c.10058C>A (p.Ala3353Glu)
c.3144C>A
c.7339C>A
c.4505C>A (p.Ala1502Glu)
c.7384C>A
c.10439C>A (p.Ala3480Glu)
c.593C>A (p.Ala198Glu)
c.1795C>A
c.1536C>A
c.3930C>A (n.3930C>A)
c.10313C>A (p.Ala3438Glu)
n.4242C>A
c.10442C>A (p.Ala3481Glu)
2g.73572316C>GCA347282854ALMS1c.10058C>G (p.Ala3353Gly)
c.3144C>G
c.7339C>G
c.4505C>G (p.Ala1502Gly)
c.7384C>G
c.10439C>G (p.Ala3480Gly)
c.593C>G (p.Ala198Gly)
c.1795C>G
c.1536C>G
c.3930C>G (n.3930C>G)
c.10313C>G (p.Ala3438Gly)
n.4242C>G
c.10442C>G (p.Ala3481Gly)
 gnomAD v4
2g.73572316C>TCA347282856ALMS1c.10058C>T (p.Ala3353Val)
c.3144C>T
c.7339C>T
c.4505C>T (p.Ala1502Val)
c.7384C>T
c.10439C>T (p.Ala3480Val)
c.593C>T (p.Ala198Val)
c.1795C>T
c.1536C>T
c.3930C>T (n.3930C>T)
c.10313C>T (p.Ala3438Val)
n.4242C>T
c.10442C>T (p.Ala3481Val)
2g.73572317A=CA1261020873ALMS1c.10059A= (p.Ala3353=)
c.3145A=
c.7340A=
c.4506A= (p.Ala1502=)
c.7385A=
c.10440A= (p.Ala3480=)
c.594A= (p.Ala198=)
c.1796A=
c.1537A=
c.3931A= (n.3931A=)
c.10314A= (p.Ala3438=)
n.4243A=
c.10443A= (p.Ala3481=)
2g.73572317A>CCA427024315ALMS1c.10059A>C (p.Ala3353=)
c.3145A>C
c.7340A>C
c.4506A>C (p.Ala1502=)
c.7385A>C
c.10440A>C (p.Ala3480=)
c.594A>C (p.Ala198=)
c.1796A>C
c.1537A>C
c.3931A>C (n.3931A>C)
c.10314A>C (p.Ala3438=)
n.4243A>C
c.10443A>C (p.Ala3481=)
 gnomAD v4
2g.73572317A>GCA50386146ALMS1c.10059A>G (p.Ala3353=)
c.3145A>G
c.7340A>G
c.4506A>G (p.Ala1502=)
c.7385A>G
c.10440A>G (p.Ala3480=)
c.594A>G (p.Ala198=)
c.1796A>G
c.1537A>G
c.3931A>G (n.3931A>G)
c.10314A>G (p.Ala3438=)
n.4243A>G
c.10443A>G (p.Ala3481=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572317A>TCA427024316ALMS1c.10059A>T (p.Ala3353=)
c.3145A>T
c.7340A>T
c.4506A>T (p.Ala1502=)
c.7385A>T
c.10440A>T (p.Ala3480=)
c.594A>T (p.Ala198=)
c.1796A>T
c.1537A>T
c.3931A>T (n.3931A>T)
c.10314A>T (p.Ala3438=)
n.4243A>T
c.10443A>T (p.Ala3481=)
 dbSNP gnomAD v4
2g.73572318A=CA1261020876ALMS1c.10060A= (p.Lys3354=)
c.3146A=
c.7341A=
c.4507A= (p.Lys1503=)
c.7386A=
c.10441A= (p.Lys3481=)
c.595A= (p.Lys199=)
c.1797A=
c.1538A=
c.3932A= (n.3932A=)
c.10315A= (p.Lys3439=)
n.4244A=
c.10444A= (p.Lys3482=)
2g.73572318A>CCA347282863ALMS1c.10060A>C (p.Lys3354Gln)
c.3146A>C
c.7341A>C
c.4507A>C (p.Lys1503Gln)
c.7386A>C
c.10441A>C (p.Lys3481Gln)
c.595A>C (p.Lys199Gln)
c.1797A>C
c.1538A>C
c.3932A>C (n.3932A>C)
c.10315A>C (p.Lys3439Gln)
n.4244A>C
c.10444A>C (p.Lys3482Gln)
2g.73572318A>GCA1715005ALMS1c.10060A>G (p.Lys3354Glu)
c.3146A>G
c.7341A>G
c.4507A>G (p.Lys1503Glu)
c.7386A>G
c.10441A>G (p.Lys3481Glu)
c.595A>G (p.Lys199Glu)
c.1797A>G
c.1538A>G
c.3932A>G (n.3932A>G)
c.10315A>G (p.Lys3439Glu)
n.4244A>G
c.10444A>G (p.Lys3482Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572318A>TCA347282868ALMS1c.10060A>T (p.Lys3354Ter)
c.3146A>T
c.7341A>T
c.4507A>T (p.Lys1503Ter)
c.7386A>T
c.10441A>T (p.Lys3481Ter)
c.595A>T (p.Lys199Ter)
c.1797A>T
c.1538A>T
c.3932A>T (n.3932A>T)
c.10315A>T (p.Lys3439Ter)
n.4244A>T
c.10444A>T (p.Lys3482Ter)
2g.73572319A>CCA347282871ALMS1c.10061A>C (p.Lys3354Thr)
c.3147A>C
c.7342A>C
c.4508A>C (p.Lys1503Thr)
c.7387A>C
c.10442A>C (p.Lys3481Thr)
c.596A>C (p.Lys199Thr)
c.1798A>C
c.1539A>C
c.3933A>C (n.3933A>C)
c.10316A>C (p.Lys3439Thr)
n.4245A>C
c.10445A>C (p.Lys3482Thr)
2g.73572319A>GCA347282872ALMS1c.10061A>G (p.Lys3354Arg)
c.3147A>G
c.7342A>G
c.4508A>G (p.Lys1503Arg)
c.7387A>G
c.10442A>G (p.Lys3481Arg)
c.596A>G (p.Lys199Arg)
c.1798A>G
c.1539A>G
c.3933A>G (n.3933A>G)
c.10316A>G (p.Lys3439Arg)
n.4245A>G
c.10445A>G (p.Lys3482Arg)
2g.73572319A>TCA347282874ALMS1c.10061A>T (p.Lys3354Met)
c.3147A>T
c.7342A>T
c.4508A>T (p.Lys1503Met)
c.7387A>T
c.10442A>T (p.Lys3481Met)
c.596A>T (p.Lys199Met)
c.1798A>T
c.1539A>T
c.3933A>T (n.3933A>T)
c.10316A>T (p.Lys3439Met)
n.4245A>T
c.10445A>T (p.Lys3482Met)
2g.73572320G>ACA427024323ALMS1c.10062G>A (p.Lys3354=)
c.3148G>A
c.7343G>A
c.4509G>A (p.Lys1503=)
c.7388G>A
c.10443G>A (p.Lys3481=)
c.597G>A (p.Lys199=)
c.1799G>A
c.1540G>A
c.3934G>A (n.3934G>A)
c.10317G>A (p.Lys3439=)
n.4246G>A
c.10446G>A (p.Lys3482=)
 ClinVar gnomAD v4
2g.73572320G>CCA1715006ALMS1c.10062G>C (p.Lys3354Asn)
c.3148G>C
c.7343G>C
c.4509G>C (p.Lys1503Asn)
c.7388G>C
c.10443G>C (p.Lys3481Asn)
c.597G>C (p.Lys199Asn)
c.1799G>C
c.1540G>C
c.3934G>C (n.3934G>C)
c.10317G>C (p.Lys3439Asn)
n.4246G>C
c.10446G>C (p.Lys3482Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572320G=CA1261020881ALMS1c.10062G= (p.Lys3354=)
c.3148G=
c.7343G=
c.4509G= (p.Lys1503=)
c.7388G=
c.10443G= (p.Lys3481=)
c.597G= (p.Lys199=)
c.1799G=
c.1540G=
c.3934G= (n.3934G=)
c.10317G= (p.Lys3439=)
n.4246G=
c.10446G= (p.Lys3482=)
2g.73572320G>TCA347282880ALMS1c.10062G>T (p.Lys3354Asn)
c.3148G>T
c.7343G>T
c.4509G>T (p.Lys1503Asn)
c.7388G>T
c.10443G>T (p.Lys3481Asn)
c.597G>T (p.Lys199Asn)
c.1799G>T
c.1540G>T
c.3934G>T (n.3934G>T)
c.10317G>T (p.Lys3439Asn)
n.4246G>T
c.10446G>T (p.Lys3482Asn)
2g.73572321T>ACA347282884ALMS1c.10063T>A (p.Phe3355Ile)
c.3149T>A
c.7344T>A
c.4510T>A (p.Phe1504Ile)
c.7389T>A
c.10444T>A (p.Phe3482Ile)
c.598T>A (p.Phe200Ile)
c.1800T>A
c.1541T>A
c.3935T>A (n.3935T>A)
c.10318T>A (p.Phe3440Ile)
n.4247T>A
c.10447T>A (p.Phe3483Ile)
2g.73572321T>CCA347282886ALMS1c.10063T>C (p.Phe3355Leu)
c.3149T>C
c.7344T>C
c.4510T>C (p.Phe1504Leu)
c.7389T>C
c.10444T>C (p.Phe3482Leu)
c.598T>C (p.Phe200Leu)
c.1800T>C
c.1541T>C
c.3935T>C (n.3935T>C)
c.10318T>C (p.Phe3440Leu)
n.4247T>C
c.10447T>C (p.Phe3483Leu)
2g.73572321T>GCA347282885ALMS1c.10063T>G (p.Phe3355Val)
c.3149T>G
c.7344T>G
c.4510T>G (p.Phe1504Val)
c.7389T>G
c.10444T>G (p.Phe3482Val)
c.598T>G (p.Phe200Val)
c.1800T>G
c.1541T>G
c.3935T>G (n.3935T>G)
c.10318T>G (p.Phe3440Val)
n.4247T>G
c.10447T>G (p.Phe3483Val)
 dbSNP gnomAD v3 gnomAD v4
2g.73572321T=CA1261020885ALMS1c.10063T= (p.Phe3355=)
c.3149T=
c.7344T=
c.4510T= (p.Phe1504=)
c.7389T=
c.10444T= (p.Phe3482=)
c.598T= (p.Phe200=)
c.1800T=
c.1541T=
c.3935T= (n.3935T=)
c.10318T= (p.Phe3440=)
n.4247T=
c.10447T= (p.Phe3483=)
2g.73572322T>ACA347282890ALMS1c.10064T>A (p.Phe3355Tyr)
c.3150T>A
c.7345T>A
c.4511T>A (p.Phe1504Tyr)
c.7390T>A
c.10445T>A (p.Phe3482Tyr)
c.599T>A (p.Phe200Tyr)
c.1801T>A
c.1542T>A
c.3936T>A (n.3936T>A)
c.10319T>A (p.Phe3440Tyr)
n.4248T>A
c.10448T>A (p.Phe3483Tyr)
2g.73572322T>CCA347282895ALMS1c.10064T>C (p.Phe3355Ser)
c.3150T>C
c.7345T>C
c.4511T>C (p.Phe1504Ser)
c.7390T>C
c.10445T>C (p.Phe3482Ser)
c.599T>C (p.Phe200Ser)
c.1801T>C
c.1542T>C
c.3936T>C (n.3936T>C)
c.10319T>C (p.Phe3440Ser)
n.4248T>C
c.10448T>C (p.Phe3483Ser)
2g.73572322T>GCA347282892ALMS1c.10064T>G (p.Phe3355Cys)
c.3150T>G
c.7345T>G
c.4511T>G (p.Phe1504Cys)
c.7390T>G
c.10445T>G (p.Phe3482Cys)
c.599T>G (p.Phe200Cys)
c.1801T>G
c.1542T>G
c.3936T>G (n.3936T>G)
c.10319T>G (p.Phe3440Cys)
n.4248T>G
c.10448T>G (p.Phe3483Cys)
2g.73572323T>ACA347282899ALMS1c.10065T>A (p.Phe3355Leu)
c.3151T>A
c.7346T>A
c.4512T>A (p.Phe1504Leu)
c.7391T>A
c.10446T>A (p.Phe3482Leu)
c.600T>A (p.Phe200Leu)
c.1802T>A
c.1543T>A
c.3937T>A (n.3937T>A)
c.10320T>A (p.Phe3440Leu)
n.4249T>A
c.10449T>A (p.Phe3483Leu)
2g.73572323T>CCA427024330ALMS1c.10065T>C (p.Phe3355=)
c.3151T>C
c.7346T>C
c.4512T>C (p.Phe1504=)
c.7391T>C
c.10446T>C (p.Phe3482=)
c.600T>C (p.Phe200=)
c.1802T>C
c.1543T>C
c.3937T>C (n.3937T>C)
c.10320T>C (p.Phe3440=)
n.4249T>C
c.10449T>C (p.Phe3483=)
2g.73572323T>GCA347282900ALMS1c.10065T>G (p.Phe3355Leu)
c.3151T>G
c.7346T>G
c.4512T>G (p.Phe1504Leu)
c.7391T>G
c.10446T>G (p.Phe3482Leu)
c.600T>G (p.Phe200Leu)
c.1802T>G
c.1543T>G
c.3937T>G (n.3937T>G)
c.10320T>G (p.Phe3440Leu)
n.4249T>G
c.10449T>G (p.Phe3483Leu)
2g.73572323_73572327delinsTTACACA1261020890ALMS1c.10065_10069delinsTTACA (p.Phe3355=)
c.3151_3155delinsTTACA
c.7346_7350delinsTTACA
c.4512_4516delinsTTACA (p.Phe1504=)
c.7391_7395delinsTTACA
c.10446_10450delinsTTACA (p.Phe3482=)
c.600_604delinsTTACA (p.Phe200=)
c.1802_1806delinsTTACA
c.1543_1547delinsTTACA
c.3937_3941delinsTTACA (n.3937_3941delinsTTACA)
c.10320_10324delinsTTACA (p.Phe3440=)
n.4249_4253delinsTTACA
c.10449_10453delinsTTACA (p.Phe3483=)
2g.73572324T>ACA347282904ALMS1c.10066T>A (p.Tyr3356Asn)
c.3152T>A
c.7347T>A
c.4513T>A (p.Tyr1505Asn)
c.7392T>A
c.10447T>A (p.Tyr3483Asn)
c.601T>A (p.Tyr201Asn)
c.1803T>A
c.1544T>A
c.3938T>A (n.3938T>A)
c.10321T>A (p.Tyr3441Asn)
n.4250T>A
c.10450T>A (p.Tyr3484Asn)
2g.73572324T>CCA347282906ALMS1c.10066T>C (p.Tyr3356His)
c.3152T>C
c.7347T>C
c.4513T>C (p.Tyr1505His)
c.7392T>C
c.10447T>C (p.Tyr3483His)
c.601T>C (p.Tyr201His)
c.1803T>C
c.1544T>C
c.3938T>C (n.3938T>C)
c.10321T>C (p.Tyr3441His)
n.4250T>C
c.10450T>C (p.Tyr3484His)
2g.73572324T>GCA347282908ALMS1c.10066T>G (p.Tyr3356Asp)
c.3152T>G
c.7347T>G
c.4513T>G (p.Tyr1505Asp)
c.7392T>G
c.10447T>G (p.Tyr3483Asp)
c.601T>G (p.Tyr201Asp)
c.1803T>G
c.1544T>G
c.3938T>G (n.3938T>G)
c.10321T>G (p.Tyr3441Asp)
n.4250T>G
c.10450T>G (p.Tyr3484Asp)
2g.73572325_73572328delCA534124486ALMS1c.10067_10070del (p.Tyr3356PhefsTer24)
c.3153_3156del
c.7348_7351del
c.4514_4517del (p.Tyr1505PhefsTer24)
c.7393_7396del
c.10448_10451del (p.Tyr3483PhefsTer24)
c.602_605del (p.Tyr201PhefsTer24)
c.1804_1807del
c.1545_1548del
c.3939_3942del (n.3939_3942del)
c.10322_10325del (p.Tyr3441PhefsTer24)
n.4251_4254del
c.10451_10454del (p.Tyr3484PhefsTer24)
 dbSNP gnomAD v2
2g.73572325A>CCA347282914ALMS1c.10067A>C (p.Tyr3356Ser)
c.3153A>C
c.7348A>C
c.4514A>C (p.Tyr1505Ser)
c.7393A>C
c.10448A>C (p.Tyr3483Ser)
c.602A>C (p.Tyr201Ser)
c.1804A>C
c.1545A>C
c.3939A>C (n.3939A>C)
c.10322A>C (p.Tyr3441Ser)
n.4251A>C
c.10451A>C (p.Tyr3484Ser)
2g.73572325A>GCA347282916ALMS1c.10067A>G (p.Tyr3356Cys)
c.3153A>G
c.7348A>G
c.4514A>G (p.Tyr1505Cys)
c.7393A>G
c.10448A>G (p.Tyr3483Cys)
c.602A>G (p.Tyr201Cys)
c.1804A>G
c.1545A>G
c.3939A>G (n.3939A>G)
c.10322A>G (p.Tyr3441Cys)
n.4251A>G
c.10451A>G (p.Tyr3484Cys)
 ClinVar dbSNP gnomAD v4
2g.73572325A>TCA347282918ALMS1c.10067A>T (p.Tyr3356Phe)
c.3153A>T
c.7348A>T
c.4514A>T (p.Tyr1505Phe)
c.7393A>T
c.10448A>T (p.Tyr3483Phe)
c.602A>T (p.Tyr201Phe)
c.1804A>T
c.1545A>T
c.3939A>T (n.3939A>T)
c.10322A>T (p.Tyr3441Phe)
n.4251A>T
c.10451A>T (p.Tyr3484Phe)
2g.73572326C>ACA347282921ALMS1c.10068C>A (p.Tyr3356Ter)
c.3154C>A
c.7349C>A
c.4515C>A (p.Tyr1505Ter)
c.7394C>A
c.10449C>A (p.Tyr3483Ter)
c.603C>A (p.Tyr201Ter)
c.1805C>A
c.1546C>A
c.3940C>A (n.3940C>A)
c.10323C>A (p.Tyr3441Ter)
n.4252C>A
c.10452C>A (p.Tyr3484Ter)
2g.73572326C>GCA347282923ALMS1c.10068C>G (p.Tyr3356Ter)
c.3154C>G
c.7349C>G
c.4515C>G (p.Tyr1505Ter)
c.7394C>G
c.10449C>G (p.Tyr3483Ter)
c.603C>G (p.Tyr201Ter)
c.1805C>G
c.1546C>G
c.3940C>G (n.3940C>G)
c.10323C>G (p.Tyr3441Ter)
n.4252C>G
c.10452C>G (p.Tyr3484Ter)
2g.73572326C>TCA427024337ALMS1c.10068C>T (p.Tyr3356=)
c.3154C>T
c.7349C>T
c.4515C>T (p.Tyr1505=)
c.7394C>T
c.10449C>T (p.Tyr3483=)
c.603C>T (p.Tyr201=)
c.1805C>T
c.1546C>T
c.3940C>T (n.3940C>T)
c.10323C>T (p.Tyr3441=)
n.4252C>T
c.10452C>T (p.Tyr3484=)
 gnomAD v4
2g.73572327A>CCA347282926ALMS1c.10069A>C (p.Ile3357Leu)
c.3155A>C
c.7350A>C
c.4516A>C (p.Ile1506Leu)
c.7395A>C
c.10450A>C (p.Ile3484Leu)
c.604A>C (p.Ile202Leu)
c.1806A>C
c.1547A>C
c.3941A>C (n.3941A>C)
c.10324A>C (p.Ile3442Leu)
n.4253A>C
c.10453A>C (p.Ile3485Leu)
2g.73572327A>GCA347282931ALMS1c.10069A>G (p.Ile3357Val)
c.3155A>G
c.7350A>G
c.4516A>G (p.Ile1506Val)
c.7395A>G
c.10450A>G (p.Ile3484Val)
c.604A>G (p.Ile202Val)
c.1806A>G
c.1547A>G
c.3941A>G (n.3941A>G)
c.10324A>G (p.Ile3442Val)
n.4253A>G
c.10453A>G (p.Ile3485Val)
2g.73572327A>TCA347282929ALMS1c.10069A>T (p.Ile3357Phe)
c.3155A>T
c.7350A>T
c.4516A>T (p.Ile1506Phe)
c.7395A>T
c.10450A>T (p.Ile3484Phe)
c.604A>T (p.Ile202Phe)
c.1806A>T
c.1547A>T
c.3941A>T (n.3941A>T)
c.10324A>T (p.Ile3442Phe)
n.4253A>T
c.10453A>T (p.Ile3485Phe)
2g.73572328T>ACA347282934ALMS1c.10070T>A (p.Ile3357Asn)
c.3156T>A
c.7351T>A
c.4517T>A (p.Ile1506Asn)
c.7396T>A
c.10451T>A (p.Ile3484Asn)
c.605T>A (p.Ile202Asn)
c.1807T>A
c.1548T>A
c.3942T>A (n.3942T>A)
c.10325T>A (p.Ile3442Asn)
n.4254T>A
c.10454T>A (p.Ile3485Asn)
2g.73572328T>CCA347282936ALMS1c.10070T>C (p.Ile3357Thr)
c.3156T>C
c.7351T>C
c.4517T>C (p.Ile1506Thr)
c.7396T>C
c.10451T>C (p.Ile3484Thr)
c.605T>C (p.Ile202Thr)
c.1807T>C
c.1548T>C
c.3942T>C (n.3942T>C)
c.10325T>C (p.Ile3442Thr)
n.4254T>C
c.10454T>C (p.Ile3485Thr)
2g.73572328T>GCA347282937ALMS1c.10070T>G (p.Ile3357Ser)
c.3156T>G
c.7351T>G
c.4517T>G (p.Ile1506Ser)
c.7396T>G
c.10451T>G (p.Ile3484Ser)
c.605T>G (p.Ile202Ser)
c.1807T>G
c.1548T>G
c.3942T>G (n.3942T>G)
c.10325T>G (p.Ile3442Ser)
n.4254T>G
c.10454T>G (p.Ile3485Ser)
2g.73572329T>ACA427024342ALMS1c.10071T>A (p.Ile3357=)
c.3157T>A
c.7352T>A
c.4518T>A (p.Ile1506=)
c.7397T>A
c.10452T>A (p.Ile3484=)
c.606T>A (p.Ile202=)
c.1808T>A
c.1549T>A
c.3943T>A (n.3943T>A)
c.10326T>A (p.Ile3442=)
n.4255T>A
c.10455T>A (p.Ile3485=)
2g.73572329T>CCA427024344ALMS1c.10071T>C (p.Ile3357=)
c.3157T>C
c.7352T>C
c.4518T>C (p.Ile1506=)
c.7397T>C
c.10452T>C (p.Ile3484=)
c.606T>C (p.Ile202=)
c.1808T>C
c.1549T>C
c.3943T>C (n.3943T>C)
c.10326T>C (p.Ile3442=)
n.4255T>C
c.10455T>C (p.Ile3485=)
2g.73572329T>GCA347282941ALMS1c.10071T>G (p.Ile3357Met)
c.3157T>G
c.7352T>G
c.4518T>G (p.Ile1506Met)
c.7397T>G
c.10452T>G (p.Ile3484Met)
c.606T>G (p.Ile202Met)
c.1808T>G
c.1549T>G
c.3943T>G (n.3943T>G)
c.10326T>G (p.Ile3442Met)
n.4255T>G
c.10455T>G (p.Ile3485Met)
2g.73572330C>ACA347282950ALMS1c.10072C>A (p.His3358Asn)
c.3158C>A
c.7353C>A
c.4519C>A (p.His1507Asn)
c.7398C>A
c.10453C>A (p.His3485Asn)
c.607C>A (p.His203Asn)
c.1809C>A
c.1550C>A
c.3944C>A (n.3944C>A)
c.10327C>A (p.His3443Asn)
n.4256C>A
c.10456C>A (p.His3486Asn)
2g.73572330C>GCA347282945ALMS1c.10072C>G (p.His3358Asp)
c.3158C>G
c.7353C>G
c.4519C>G (p.His1507Asp)
c.7398C>G
c.10453C>G (p.His3485Asp)
c.607C>G (p.His203Asp)
c.1809C>G
c.1550C>G
c.3944C>G (n.3944C>G)
c.10327C>G (p.His3443Asp)
n.4256C>G
c.10456C>G (p.His3486Asp)
2g.73572330C>TCA347282947ALMS1c.10072C>T (p.His3358Tyr)
c.3158C>T
c.7353C>T
c.4519C>T (p.His1507Tyr)
c.7398C>T
c.10453C>T (p.His3485Tyr)
c.607C>T (p.His203Tyr)
c.1809C>T
c.1550C>T
c.3944C>T (n.3944C>T)
c.10327C>T (p.His3443Tyr)
n.4256C>T
c.10456C>T (p.His3486Tyr)
2g.73572331A>CCA347282952ALMS1c.10073A>C (p.His3358Pro)
c.3159A>C
c.7354A>C
c.4520A>C (p.His1507Pro)
c.7399A>C
c.10454A>C (p.His3485Pro)
c.608A>C (p.His203Pro)
c.1810A>C
c.1551A>C
c.3945A>C (n.3945A>C)
c.10328A>C (p.His3443Pro)
n.4257A>C
c.10457A>C (p.His3486Pro)
2g.73572331A>GCA347282955ALMS1c.10073A>G (p.His3358Arg)
c.3159A>G
c.7354A>G
c.4520A>G (p.His1507Arg)
c.7399A>G
c.10454A>G (p.His3485Arg)
c.608A>G (p.His203Arg)
c.1810A>G
c.1551A>G
c.3945A>G (n.3945A>G)
c.10328A>G (p.His3443Arg)
n.4257A>G
c.10457A>G (p.His3486Arg)
 ClinVar dbSNP
2g.73572331A>TCA347282957ALMS1c.10073A>T (p.His3358Leu)
c.3159A>T
c.7354A>T
c.4520A>T (p.His1507Leu)
c.7399A>T
c.10454A>T (p.His3485Leu)
c.608A>T (p.His203Leu)
c.1810A>T
c.1551A>T
c.3945A>T (n.3945A>T)
c.10328A>T (p.His3443Leu)
n.4257A>T
c.10457A>T (p.His3486Leu)
2g.73572332T>ACA347282960ALMS1c.10074T>A (p.His3358Gln)
c.3160T>A
c.7355T>A
c.4521T>A (p.His1507Gln)
c.7400T>A
c.10455T>A (p.His3485Gln)
c.609T>A (p.His203Gln)
c.1811T>A
c.1552T>A
c.3946T>A (n.3946T>A)
c.10329T>A (p.His3443Gln)
n.4258T>A
c.10458T>A (p.His3486Gln)
2g.73572332T>CCA427024351ALMS1c.10074T>C (p.His3358=)
c.3160T>C
c.7355T>C
c.4521T>C (p.His1507=)
c.7400T>C
c.10455T>C (p.His3485=)
c.609T>C (p.His203=)
c.1811T>C
c.1552T>C
c.3946T>C (n.3946T>C)
c.10329T>C (p.His3443=)
n.4258T>C
c.10458T>C (p.His3486=)
2g.73572332T>GCA347282962ALMS1c.10074T>G (p.His3358Gln)
c.3160T>G
c.7355T>G
c.4521T>G (p.His1507Gln)
c.7400T>G
c.10455T>G (p.His3485Gln)
c.609T>G (p.His203Gln)
c.1811T>G
c.1552T>G
c.3946T>G (n.3946T>G)
c.10329T>G (p.His3443Gln)
n.4258T>G
c.10458T>G (p.His3486Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.73572332T=CA1261020895ALMS1c.10074T= (p.His3358=)
c.3160T=
c.7355T=
c.4521T= (p.His1507=)
c.7400T=
c.10455T= (p.His3485=)
c.609T= (p.His203=)
c.1811T=
c.1552T=
c.3946T= (n.3946T=)
c.10329T= (p.His3443=)
n.4258T=
c.10458T= (p.His3486=)
2g.73572332dupCA913090897ALMS1c.10074dup (p.His3359SerfsTer8)
c.3160dup
c.7355dup
c.4521dup (p.His1508SerfsTer8)
c.7400dup
c.10455dup (p.His3486SerfsTer8)
c.609dup (p.His204SerfsTer8)
c.1811dup
c.1552dup
c.3946dup (n.3946dup)
c.10329dup (p.His3444SerfsTer8)
n.4258dup
c.10458dup (p.His3487SerfsTer8)
2g.73572333C>ACA347282966ALMS1c.10075C>A (p.His3359Asn)
c.3161C>A
c.7356C>A
c.4522C>A (p.His1508Asn)
c.7401C>A
c.10456C>A (p.His3486Asn)
c.610C>A (p.His204Asn)
c.1812C>A
c.1553C>A
c.3947C>A (n.3947C>A)
c.10330C>A (p.His3444Asn)
n.4259C>A
c.10459C>A (p.His3487Asn)
2g.73572333C>GCA347282968ALMS1c.10075C>G (p.His3359Asp)
c.3161C>G
c.7356C>G
c.4522C>G (p.His1508Asp)
c.7401C>G
c.10456C>G (p.His3486Asp)
c.610C>G (p.His204Asp)
c.1812C>G
c.1553C>G
c.3947C>G (n.3947C>G)
c.10330C>G (p.His3444Asp)
n.4259C>G
c.10459C>G (p.His3487Asp)
2g.73572333C>TCA347282971ALMS1c.10075C>T (p.His3359Tyr)
c.3161C>T
c.7356C>T
c.4522C>T (p.His1508Tyr)
c.7401C>T
c.10456C>T (p.His3486Tyr)
c.610C>T (p.His204Tyr)
c.1812C>T
c.1553C>T
c.3947C>T (n.3947C>T)
c.10330C>T (p.His3444Tyr)
n.4259C>T
c.10459C>T (p.His3487Tyr)
 gnomAD v4
2g.73572335_73572343dupCA658822829ALMS1c.10077_10085dup (p.His3362_Leu3363insProValHis)
c.3163_3171dup
c.7358_7366dup
c.4524_4532dup (p.His1511_Leu1512insProValHis)
c.7403_7411dup
c.10458_10466dup (p.His3489_Leu3490insProValHis)
c.612_620dup (p.His207_Leu208insProValHis)
c.1814_1822dup
c.1555_1563dup
c.3949_3957dup (n.3949_3957dup)
c.10332_10340dup (p.His3447_Leu3448insProValHis)
n.4261_4269dup
c.10461_10469dup (p.His3490_Leu3491insProValHis)
 ClinVar dbSNP
2g.73572334A>CCA347282975ALMS1c.10076A>C (p.His3359Pro)
c.3162A>C
c.7357A>C
c.4523A>C (p.His1508Pro)
c.7402A>C
c.10457A>C (p.His3486Pro)
c.611A>C (p.His204Pro)
c.1813A>C
c.1554A>C
c.3948A>C (n.3948A>C)
c.10331A>C (p.His3444Pro)
n.4260A>C
c.10460A>C (p.His3487Pro)
 gnomAD v4
2g.73572334A>GCA347282977ALMS1c.10076A>G (p.His3359Arg)
c.3162A>G
c.7357A>G
c.4523A>G (p.His1508Arg)
c.7402A>G
c.10457A>G (p.His3486Arg)
c.611A>G (p.His204Arg)
c.1813A>G
c.1554A>G
c.3948A>G (n.3948A>G)
c.10331A>G (p.His3444Arg)
n.4260A>G
c.10460A>G (p.His3487Arg)
 gnomAD v4
2g.73572334A>TCA347282980ALMS1c.10076A>T (p.His3359Leu)
c.3162A>T
c.7357A>T
c.4523A>T (p.His1508Leu)
c.7402A>T
c.10457A>T (p.His3486Leu)
c.611A>T (p.His204Leu)
c.1813A>T
c.1554A>T
c.3948A>T (n.3948A>T)
c.10331A>T (p.His3444Leu)
n.4260A>T
c.10460A>T (p.His3487Leu)
2g.73572335T>ACA347282984ALMS1c.10077T>A (p.His3359Gln)
c.3163T>A
c.7358T>A
c.4524T>A (p.His1508Gln)
c.7403T>A
c.10458T>A (p.His3486Gln)
c.612T>A (p.His204Gln)
c.1814T>A
c.1555T>A
c.3949T>A (n.3949T>A)
c.10332T>A (p.His3444Gln)
n.4261T>A
c.10461T>A (p.His3487Gln)
2g.73572335T>CCA427024361ALMS1c.10077T>C (p.His3359=)
c.3163T>C
c.7358T>C
c.4524T>C (p.His1508=)
c.7403T>C
c.10458T>C (p.His3486=)
c.612T>C (p.His204=)
c.1814T>C
c.1555T>C
c.3949T>C (n.3949T>C)
c.10332T>C (p.His3444=)
n.4261T>C
c.10461T>C (p.His3487=)
2g.73572335T>GCA347282986ALMS1c.10077T>G (p.His3359Gln)
c.3163T>G
c.7358T>G
c.4524T>G (p.His1508Gln)
c.7403T>G
c.10458T>G (p.His3486Gln)
c.612T>G (p.His204Gln)
c.1814T>G
c.1555T>G
c.3949T>G (n.3949T>G)
c.10332T>G (p.His3444Gln)
n.4261T>G
c.10461T>G (p.His3487Gln)
2g.73572336C>ACA347282990ALMS1c.10078C>A (p.Pro3360Thr)
c.3164C>A
c.7359C>A
c.4525C>A (p.Pro1509Thr)
c.7404C>A
c.10459C>A (p.Pro3487Thr)
c.613C>A (p.Pro205Thr)
c.1815C>A
c.1556C>A
c.3950C>A (n.3950C>A)
c.10333C>A (p.Pro3445Thr)
n.4262C>A
c.10462C>A (p.Pro3488Thr)
2g.73572336C=CA1261020902ALMS1c.10078C= (p.Pro3360=)
c.3164C=
c.7359C=
c.4525C= (p.Pro1509=)
c.7404C=
c.10459C= (p.Pro3487=)
c.613C= (p.Pro205=)
c.1815C=
c.1556C=
c.3950C= (n.3950C=)
c.10333C= (p.Pro3445=)
n.4262C=
c.10462C= (p.Pro3488=)
2g.73572336C>GCA347282994ALMS1c.10078C>G (p.Pro3360Ala)
c.3164C>G
c.7359C>G
c.4525C>G (p.Pro1509Ala)
c.7404C>G
c.10459C>G (p.Pro3487Ala)
c.613C>G (p.Pro205Ala)
c.1815C>G
c.1556C>G
c.3950C>G (n.3950C>G)
c.10333C>G (p.Pro3445Ala)
n.4262C>G
c.10462C>G (p.Pro3488Ala)
2g.73572336C>TCA347282992ALMS1c.10078C>T (p.Pro3360Ser)
c.3164C>T
c.7359C>T
c.4525C>T (p.Pro1509Ser)
c.7404C>T
c.10459C>T (p.Pro3487Ser)
c.613C>T (p.Pro205Ser)
c.1815C>T
c.1556C>T
c.3950C>T (n.3950C>T)
c.10333C>T (p.Pro3445Ser)
n.4262C>T
c.10462C>T (p.Pro3488Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.73572337C>ACA347282999ALMS1c.10079C>A (p.Pro3360His)
c.3165C>A
c.7360C>A
c.4526C>A (p.Pro1509His)
c.7405C>A
c.10460C>A (p.Pro3487His)
c.614C>A (p.Pro205His)
c.1816C>A
c.1557C>A
c.3951C>A (n.3951C>A)
c.10334C>A (p.Pro3445His)
n.4263C>A
c.10463C>A (p.Pro3488His)
2g.73572337C=CA1261020905ALMS1c.10079C= (p.Pro3360=)
c.3165C=
c.7360C=
c.4526C= (p.Pro1509=)
c.7405C=
c.10460C= (p.Pro3487=)
c.614C= (p.Pro205=)
c.1816C=
c.1557C=
c.3951C= (n.3951C=)
c.10334C= (p.Pro3445=)
n.4263C=
c.10463C= (p.Pro3488=)
2g.73572337C>GCA347283001ALMS1c.10079C>G (p.Pro3360Arg)
c.3165C>G
c.7360C>G
c.4526C>G (p.Pro1509Arg)
c.7405C>G
c.10460C>G (p.Pro3487Arg)
c.614C>G (p.Pro205Arg)
c.1816C>G
c.1557C>G
c.3951C>G (n.3951C>G)
c.10334C>G (p.Pro3445Arg)
n.4263C>G
c.10463C>G (p.Pro3488Arg)
2g.73572337C>TCA347283004ALMS1c.10079C>T (p.Pro3360Leu)
c.3165C>T
c.7360C>T
c.4526C>T (p.Pro1509Leu)
c.7405C>T
c.10460C>T (p.Pro3487Leu)
c.614C>T (p.Pro205Leu)
c.1816C>T
c.1557C>T
c.3951C>T (n.3951C>T)
c.10334C>T (p.Pro3445Leu)
n.4263C>T
c.10463C>T (p.Pro3488Leu)
 ClinVar dbSNP
2g.73572338C>ACA427024368ALMS1c.10080C>A (p.Pro3360=)
c.3166C>A
c.7361C>A
c.4527C>A (p.Pro1509=)
c.7406C>A
c.10461C>A (p.Pro3487=)
c.615C>A (p.Pro205=)
c.1817C>A
c.1558C>A
c.3952C>A (n.3952C>A)
c.10335C>A (p.Pro3445=)
n.4264C>A
c.10464C>A (p.Pro3488=)
 ClinVar
2g.73572338C=CA1261020914ALMS1c.10080C= (p.Pro3360=)
c.3166C=
c.7361C=
c.4527C= (p.Pro1509=)
c.7406C=
c.10461C= (p.Pro3487=)
c.615C= (p.Pro205=)
c.1817C=
c.1558C=
c.3952C= (n.3952C=)
c.10335C= (p.Pro3445=)
n.4264C=
c.10464C= (p.Pro3488=)
2g.73572338C>GCA427024370ALMS1c.10080C>G (p.Pro3360=)
c.3166C>G
c.7361C>G
c.4527C>G (p.Pro1509=)
c.7406C>G
c.10461C>G (p.Pro3487=)
c.615C>G (p.Pro205=)
c.1817C>G
c.1558C>G
c.3952C>G (n.3952C>G)
c.10335C>G (p.Pro3445=)
n.4264C>G
c.10464C>G (p.Pro3488=)
 ClinVar
2g.73572338C>TCA1715007ALMS1c.10080C>T (p.Pro3360=)
c.3166C>T
c.7361C>T
c.4527C>T (p.Pro1509=)
c.7406C>T
c.10461C>T (p.Pro3487=)
c.615C>T (p.Pro205=)
c.1817C>T
c.1558C>T
c.3952C>T (n.3952C>T)
c.10335C>T (p.Pro3445=)
n.4264C>T
c.10464C>T (p.Pro3488=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572339G>ACA347283010ALMS1c.10081G>A (p.Val3361Ile)
c.3167G>A
c.7362G>A
c.4528G>A (p.Val1510Ile)
c.7407G>A
c.10462G>A (p.Val3488Ile)
c.616G>A (p.Val206Ile)
c.1818G>A
c.1559G>A
c.3953G>A (n.3953G>A)
c.10336G>A (p.Val3446Ile)
n.4265G>A
c.10465G>A (p.Val3489Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572339G>CCA16604695ALMS1c.10081G>C (p.Val3361Leu)
c.3167G>C
c.7362G>C
c.4528G>C (p.Val1510Leu)
c.7407G>C
c.10462G>C (p.Val3488Leu)
c.616G>C (p.Val206Leu)
c.1818G>C
c.1559G>C
c.3953G>C (n.3953G>C)
c.10336G>C (p.Val3446Leu)
n.4265G>C
c.10465G>C (p.Val3489Leu)
 ClinVar dbSNP
2g.73572339G=CA1261020920ALMS1c.10081G= (p.Val3361=)
c.3167G=
c.7362G=
c.4528G= (p.Val1510=)
c.7407G=
c.10462G= (p.Val3488=)
c.616G= (p.Val206=)
c.1818G=
c.1559G=
c.3953G= (n.3953G=)
c.10336G= (p.Val3446=)
n.4265G=
c.10465G= (p.Val3489=)
2g.73572339G>TCA347283013ALMS1c.10081G>T (p.Val3361Leu)
c.3167G>T
c.7362G>T
c.4528G>T (p.Val1510Leu)
c.7407G>T
c.10462G>T (p.Val3488Leu)
c.616G>T (p.Val206Leu)
c.1818G>T
c.1559G>T
c.3953G>T (n.3953G>T)
c.10336G>T (p.Val3446Leu)
n.4265G>T
c.10465G>T (p.Val3489Leu)
 ClinVar dbSNP
2g.73572340T>ACA347283016ALMS1c.10082T>A (p.Val3361Glu)
c.3168T>A
c.7363T>A
c.4529T>A (p.Val1510Glu)
c.7408T>A
c.10463T>A (p.Val3488Glu)
c.617T>A (p.Val206Glu)
c.1819T>A
c.1560T>A
c.3954T>A (n.3954T>A)
c.10337T>A (p.Val3446Glu)
n.4266T>A
c.10466T>A (p.Val3489Glu)
2g.73572340T>CCA347283021ALMS1c.10082T>C (p.Val3361Ala)
c.3168T>C
c.7363T>C
c.4529T>C (p.Val1510Ala)
c.7408T>C
c.10463T>C (p.Val3488Ala)
c.617T>C (p.Val206Ala)
c.1819T>C
c.1560T>C
c.3954T>C (n.3954T>C)
c.10337T>C (p.Val3446Ala)
n.4266T>C
c.10466T>C (p.Val3489Ala)
2g.73572340T>GCA347283019ALMS1c.10082T>G (p.Val3361Gly)
c.3168T>G
c.7363T>G
c.4529T>G (p.Val1510Gly)
c.7408T>G
c.10463T>G (p.Val3488Gly)
c.617T>G (p.Val206Gly)
c.1819T>G
c.1560T>G
c.3954T>G (n.3954T>G)
c.10337T>G (p.Val3446Gly)
n.4266T>G
c.10466T>G (p.Val3489Gly)
2g.73572341A=CA1261020928ALMS1c.10083A= (p.Val3361=)
c.3169A=
c.7364A=
c.4530A= (p.Val1510=)
c.7409A=
c.10464A= (p.Val3488=)
c.618A= (p.Val206=)
c.1820A=
c.1561A=
c.3955A= (n.3955A=)
c.10338A= (p.Val3446=)
n.4267A=
c.10467A= (p.Val3489=)
2g.73572341A>CCA427024375ALMS1c.10083A>C (p.Val3361=)
c.3169A>C
c.7364A>C
c.4530A>C (p.Val1510=)
c.7409A>C
c.10464A>C (p.Val3488=)
c.618A>C (p.Val206=)
c.1820A>C
c.1561A>C
c.3955A>C (n.3955A>C)
c.10338A>C (p.Val3446=)
n.4267A>C
c.10467A>C (p.Val3489=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572341A>GCA1715008ALMS1c.10083A>G (p.Val3361=)
c.3169A>G
c.7364A>G
c.4530A>G (p.Val1510=)
c.7409A>G
c.10464A>G (p.Val3488=)
c.618A>G (p.Val206=)
c.1820A>G
c.1561A>G
c.3955A>G (n.3955A>G)
c.10338A>G (p.Val3446=)
n.4267A>G
c.10467A>G (p.Val3489=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572341A>TCA427024378ALMS1c.10083A>T (p.Val3361=)
c.3169A>T
c.7364A>T
c.4530A>T (p.Val1510=)
c.7409A>T
c.10464A>T (p.Val3488=)
c.618A>T (p.Val206=)
c.1820A>T
c.1561A>T
c.3955A>T (n.3955A>T)
c.10338A>T (p.Val3446=)
n.4267A>T
c.10467A>T (p.Val3489=)
2g.73572342delCA2586964934ALMS1c.10084del (p.His3362ThrfsTer19)
c.3170del
c.7365del
c.4531del (p.His1511ThrfsTer19)
c.7410del
c.10465del (p.His3489ThrfsTer19)
c.619del (p.His207ThrfsTer19)
c.1821del
c.1562del
c.3956del (n.3956del)
c.10339del (p.His3447ThrfsTer19)
n.4268del
c.10468del (p.His3490ThrfsTer19)
2g.73572342C>ACA347283027ALMS1c.10084C>A (p.His3362Asn)
c.3170C>A
c.7365C>A
c.4531C>A (p.His1511Asn)
c.7410C>A
c.10465C>A (p.His3489Asn)
c.619C>A (p.His207Asn)
c.1821C>A
c.1562C>A
c.3956C>A (n.3956C>A)
c.10339C>A (p.His3447Asn)
n.4268C>A
c.10468C>A (p.His3490Asn)
2g.73572342C>GCA347283029ALMS1c.10084C>G (p.His3362Asp)
c.3170C>G
c.7365C>G
c.4531C>G (p.His1511Asp)
c.7410C>G
c.10465C>G (p.His3489Asp)
c.619C>G (p.His207Asp)
c.1821C>G
c.1562C>G
c.3956C>G (n.3956C>G)
c.10339C>G (p.His3447Asp)
n.4268C>G
c.10468C>G (p.His3490Asp)
2g.73572342C>TCA347283031ALMS1c.10084C>T (p.His3362Tyr)
c.3170C>T
c.7365C>T
c.4531C>T (p.His1511Tyr)
c.7410C>T
c.10465C>T (p.His3489Tyr)
c.619C>T (p.His207Tyr)
c.1821C>T
c.1562C>T
c.3956C>T (n.3956C>T)
c.10339C>T (p.His3447Tyr)
n.4268C>T
c.10468C>T (p.His3490Tyr)
2g.73572343A>CCA347283035ALMS1c.10085A>C (p.His3362Pro)
c.3171A>C
c.7366A>C
c.4532A>C (p.His1511Pro)
c.7411A>C
c.10466A>C (p.His3489Pro)
c.620A>C (p.His207Pro)
c.1822A>C
c.1563A>C
c.3957A>C (n.3957A>C)
c.10340A>C (p.His3447Pro)
n.4269A>C
c.10469A>C (p.His3490Pro)
2g.73572343A>GCA347283040ALMS1c.10085A>G (p.His3362Arg)
c.3171A>G
c.7366A>G
c.4532A>G (p.His1511Arg)
c.7411A>G
c.10466A>G (p.His3489Arg)
c.620A>G (p.His207Arg)
c.1822A>G
c.1563A>G
c.3957A>G (n.3957A>G)
c.10340A>G (p.His3447Arg)
n.4269A>G
c.10469A>G (p.His3490Arg)
 ClinVar
2g.73572343A>TCA347283038ALMS1c.10085A>T (p.His3362Leu)
c.3171A>T
c.7366A>T
c.4532A>T (p.His1511Leu)
c.7411A>T
c.10466A>T (p.His3489Leu)
c.620A>T (p.His207Leu)
c.1822A>T
c.1563A>T
c.3957A>T (n.3957A>T)
c.10340A>T (p.His3447Leu)
n.4269A>T
c.10469A>T (p.His3490Leu)
2g.73572344C>ACA347283042ALMS1c.10086C>A (p.His3362Gln)
c.3172C>A
c.7367C>A
c.4533C>A (p.His1511Gln)
c.7412C>A
c.10467C>A (p.His3489Gln)
c.621C>A (p.His207Gln)
c.1823C>A
c.1564C>A
c.3958C>A (n.3958C>A)
c.10341C>A (p.His3447Gln)
n.4270C>A
c.10470C>A (p.His3490Gln)
 gnomAD v4
2g.73572344C=CA1261020937ALMS1c.10086C= (p.His3362=)
c.3172C=
c.7367C=
c.4533C= (p.His1511=)
c.7412C=
c.10467C= (p.His3489=)
c.621C= (p.His207=)
c.1823C=
c.1564C=
c.3958C= (n.3958C=)
c.10341C= (p.His3447=)
n.4270C=
c.10470C= (p.His3490=)
2g.73572344C>GCA347283044ALMS1c.10086C>G (p.His3362Gln)
c.3172C>G
c.7367C>G
c.4533C>G (p.His1511Gln)
c.7412C>G
c.10467C>G (p.His3489Gln)
c.621C>G (p.His207Gln)
c.1823C>G
c.1564C>G
c.3958C>G (n.3958C>G)
c.10341C>G (p.His3447Gln)
n.4270C>G
c.10470C>G (p.His3490Gln)
2g.73572344C>TCA50386155ALMS1c.10086C>T (p.His3362=)
c.3172C>T
c.7367C>T
c.4533C>T (p.His1511=)
c.7412C>T
c.10467C>T (p.His3489=)
c.621C>T (p.His207=)
c.1823C>T
c.1564C>T
c.3958C>T (n.3958C>T)
c.10341C>T (p.His3447=)
n.4270C>T
c.10470C>T (p.His3490=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572345delCA2586964936ALMS1c.10087del (p.Leu3363TyrfsTer18)
c.3173del
c.7368del
c.4534del (p.Leu1512TyrfsTer18)
c.7413del
c.10468del (p.Leu3490TyrfsTer18)
c.622del (p.Leu208TyrfsTer18)
c.1824del
c.1565del
c.3959del (n.3959del)
c.10342del (p.Leu3448TyrfsTer18)
n.4271del
c.10471del (p.Leu3491TyrfsTer18)
2g.73572345C>ACA347283048ALMS1c.10087C>A (p.Leu3363Ile)
c.3173C>A
c.7368C>A
c.4534C>A (p.Leu1512Ile)
c.7413C>A
c.10468C>A (p.Leu3490Ile)
c.622C>A (p.Leu208Ile)
c.1824C>A
c.1565C>A
c.3959C>A (n.3959C>A)
c.10342C>A (p.Leu3448Ile)
n.4271C>A
c.10471C>A (p.Leu3491Ile)
2g.73572345C>GCA347283051ALMS1c.10087C>G (p.Leu3363Val)
c.3173C>G
c.7368C>G
c.4534C>G (p.Leu1512Val)
c.7413C>G
c.10468C>G (p.Leu3490Val)
c.622C>G (p.Leu208Val)
c.1824C>G
c.1565C>G
c.3959C>G (n.3959C>G)
c.10342C>G (p.Leu3448Val)
n.4271C>G
c.10471C>G (p.Leu3491Val)
2g.73572345C>TCA427024395ALMS1c.10087C>T (p.Leu3363=)
c.3173C>T
c.7368C>T
c.4534C>T (p.Leu1512=)
c.7413C>T
c.10468C>T (p.Leu3490=)
c.622C>T (p.Leu208=)
c.1824C>T
c.1565C>T
c.3959C>T (n.3959C>T)
c.10342C>T (p.Leu3448=)
n.4271C>T
c.10471C>T (p.Leu3491=)
 ClinVar
2g.73572346T>ACA347283055ALMS1c.10088T>A (p.Leu3363Gln)
c.3174T>A
c.7369T>A
c.4535T>A (p.Leu1512Gln)
c.7414T>A
c.10469T>A (p.Leu3490Gln)
c.623T>A (p.Leu208Gln)
c.1825T>A
c.1566T>A
c.3960T>A (n.3960T>A)
c.10343T>A (p.Leu3448Gln)
n.4272T>A
c.10472T>A (p.Leu3491Gln)
2g.73572346T>CCA347283057ALMS1c.10088T>C (p.Leu3363Pro)
c.3174T>C
c.7369T>C
c.4535T>C (p.Leu1512Pro)
c.7414T>C
c.10469T>C (p.Leu3490Pro)
c.623T>C (p.Leu208Pro)
c.1825T>C
c.1566T>C
c.3960T>C (n.3960T>C)
c.10343T>C (p.Leu3448Pro)
n.4272T>C
c.10472T>C (p.Leu3491Pro)
2g.73572346T>GCA347283060ALMS1c.10088T>G (p.Leu3363Arg)
c.3174T>G
c.7369T>G
c.4535T>G (p.Leu1512Arg)
c.7414T>G
c.10469T>G (p.Leu3490Arg)
c.623T>G (p.Leu208Arg)
c.1825T>G
c.1566T>G
c.3960T>G (n.3960T>G)
c.10343T>G (p.Leu3448Arg)
n.4272T>G
c.10472T>G (p.Leu3491Arg)
2g.73572347A>CCA427024401ALMS1c.10089A>C (p.Leu3363=)
c.3175A>C
c.7370A>C
c.4536A>C (p.Leu1512=)
c.7415A>C
c.10470A>C (p.Leu3490=)
c.624A>C (p.Leu208=)
c.1826A>C
c.1567A>C
c.3961A>C (n.3961A>C)
c.10344A>C (p.Leu3448=)
n.4273A>C
c.10473A>C (p.Leu3491=)
2g.73572347A>GCA427024404ALMS1c.10089A>G (p.Leu3363=)
c.3175A>G
c.7370A>G
c.4536A>G (p.Leu1512=)
c.7415A>G
c.10470A>G (p.Leu3490=)
c.624A>G (p.Leu208=)
c.1826A>G
c.1567A>G
c.3961A>G (n.3961A>G)
c.10344A>G (p.Leu3448=)
n.4273A>G
c.10473A>G (p.Leu3491=)
 ClinVar dbSNP
2g.73572347A>TCA427024406ALMS1c.10089A>T (p.Leu3363=)
c.3175A>T
c.7370A>T
c.4536A>T (p.Leu1512=)
c.7415A>T
c.10470A>T (p.Leu3490=)
c.624A>T (p.Leu208=)
c.1826A>T
c.1567A>T
c.3961A>T (n.3961A>T)
c.10344A>T (p.Leu3448=)
n.4273A>T
c.10473A>T (p.Leu3491=)
2g.73572348C>ACA347283063ALMS1c.10090C>A (p.Pro3364Thr)
c.3176C>A
c.7371C>A
c.4537C>A (p.Pro1513Thr)
c.7416C>A
c.10471C>A (p.Pro3491Thr)
c.625C>A (p.Pro209Thr)
c.1827C>A
c.1568C>A
c.3962C>A (n.3962C>A)
c.10345C>A (p.Pro3449Thr)
n.4274C>A
c.10474C>A (p.Pro3492Thr)
2g.73572348C>GCA347283065ALMS1c.10090C>G (p.Pro3364Ala)
c.3176C>G
c.7371C>G
c.4537C>G (p.Pro1513Ala)
c.7416C>G
c.10471C>G (p.Pro3491Ala)
c.625C>G (p.Pro209Ala)
c.1827C>G
c.1568C>G
c.3962C>G (n.3962C>G)
c.10345C>G (p.Pro3449Ala)
n.4274C>G
c.10474C>G (p.Pro3492Ala)
2g.73572348C>TCA347283068ALMS1c.10090C>T (p.Pro3364Ser)
c.3176C>T
c.7371C>T
c.4537C>T (p.Pro1513Ser)
c.7416C>T
c.10471C>T (p.Pro3491Ser)
c.625C>T (p.Pro209Ser)
c.1827C>T
c.1568C>T
c.3962C>T (n.3962C>T)
c.10345C>T (p.Pro3449Ser)
n.4274C>T
c.10474C>T (p.Pro3492Ser)
2g.73572349C>ACA347283076ALMS1c.10091C>A (p.Pro3364Gln)
c.3177C>A
c.7372C>A
c.4538C>A (p.Pro1513Gln)
c.7417C>A
c.10472C>A (p.Pro3491Gln)
c.626C>A (p.Pro209Gln)
c.1828C>A
c.1569C>A
c.3963C>A (n.3963C>A)
c.10346C>A (p.Pro3449Gln)
n.4275C>A
c.10475C>A (p.Pro3492Gln)
 gnomAD v4
2g.73572349C>GCA347283071ALMS1c.10091C>G (p.Pro3364Arg)
c.3177C>G
c.7372C>G
c.4538C>G (p.Pro1513Arg)
c.7417C>G
c.10472C>G (p.Pro3491Arg)
c.626C>G (p.Pro209Arg)
c.1828C>G
c.1569C>G
c.3963C>G (n.3963C>G)
c.10346C>G (p.Pro3449Arg)
n.4275C>G
c.10475C>G (p.Pro3492Arg)
2g.73572349C>TCA347283073ALMS1c.10091C>T (p.Pro3364Leu)
c.3177C>T
c.7372C>T
c.4538C>T (p.Pro1513Leu)
c.7417C>T
c.10472C>T (p.Pro3491Leu)
c.626C>T (p.Pro209Leu)
c.1828C>T
c.1569C>T
c.3963C>T (n.3963C>T)
c.10346C>T (p.Pro3449Leu)
n.4275C>T
c.10475C>T (p.Pro3492Leu)
 dbSNP gnomAD v4
2g.73572350A>CCA427024416ALMS1c.10092A>C (p.Pro3364=)
c.3178A>C
c.7373A>C
c.4539A>C (p.Pro1513=)
c.7418A>C
c.10473A>C (p.Pro3491=)
c.627A>C (p.Pro209=)
c.1829A>C
c.1570A>C
c.3964A>C (n.3964A>C)
c.10347A>C (p.Pro3449=)
n.4276A>C
c.10476A>C (p.Pro3492=)
2g.73572350A>GCA427024417ALMS1c.10092A>G (p.Pro3364=)
c.3178A>G
c.7373A>G
c.4539A>G (p.Pro1513=)
c.7418A>G
c.10473A>G (p.Pro3491=)
c.627A>G (p.Pro209=)
c.1829A>G
c.1570A>G
c.3964A>G (n.3964A>G)
c.10347A>G (p.Pro3449=)
n.4276A>G
c.10476A>G (p.Pro3492=)
2g.73572350A>TCA427024418ALMS1c.10092A>T (p.Pro3364=)
c.3178A>T
c.7373A>T
c.4539A>T (p.Pro1513=)
c.7418A>T
c.10473A>T (p.Pro3491=)
c.627A>T (p.Pro209=)
c.1829A>T
c.1570A>T
c.3964A>T (n.3964A>T)
c.10347A>T (p.Pro3449=)
n.4276A>T
c.10476A>T (p.Pro3492=)
2g.73572351A=CA1261020943ALMS1c.10093A= (p.Ser3365=)
c.3179A=
c.7374A=
c.4540A= (p.Ser1514=)
c.7419A=
c.10474A= (p.Ser3492=)
c.628A= (p.Ser210=)
c.1830A=
c.1571A=
c.3965A= (n.3965A=)
c.10348A= (p.Ser3450=)
n.4277A=
c.10477A= (p.Ser3493=)
2g.73572351A>CCA347283079ALMS1c.10093A>C (p.Ser3365Arg)
c.3179A>C
c.7374A>C
c.4540A>C (p.Ser1514Arg)
c.7419A>C
c.10474A>C (p.Ser3492Arg)
c.628A>C (p.Ser210Arg)
c.1830A>C
c.1571A>C
c.3965A>C (n.3965A>C)
c.10348A>C (p.Ser3450Arg)
n.4277A>C
c.10477A>C (p.Ser3493Arg)
2g.73572351A>GCA1715009ALMS1c.10093A>G (p.Ser3365Gly)
c.3179A>G
c.7374A>G
c.4540A>G (p.Ser1514Gly)
c.7419A>G
c.10474A>G (p.Ser3492Gly)
c.628A>G (p.Ser210Gly)
c.1830A>G
c.1571A>G
c.3965A>G (n.3965A>G)
c.10348A>G (p.Ser3450Gly)
n.4277A>G
c.10477A>G (p.Ser3493Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572351A>TCA347283083ALMS1c.10093A>T (p.Ser3365Cys)
c.3179A>T
c.7374A>T
c.4540A>T (p.Ser1514Cys)
c.7419A>T
c.10474A>T (p.Ser3492Cys)
c.628A>T (p.Ser210Cys)
c.1830A>T
c.1571A>T
c.3965A>T (n.3965A>T)
c.10348A>T (p.Ser3450Cys)
n.4277A>T
c.10477A>T (p.Ser3493Cys)
 gnomAD v4
2g.73572352G>ACA347283087ALMS1c.10094G>A (p.Ser3365Asn)
c.3180G>A
c.7375G>A
c.4541G>A (p.Ser1514Asn)
c.7420G>A
c.10475G>A (p.Ser3492Asn)
c.629G>A (p.Ser210Asn)
c.1831G>A
c.1572G>A
c.3966G>A (n.3966G>A)
c.10349G>A (p.Ser3450Asn)
n.4278G>A
c.10478G>A (p.Ser3493Asn)
2g.73572352G>CCA347283089ALMS1c.10094G>C (p.Ser3365Thr)
c.3180G>C
c.7375G>C
c.4541G>C (p.Ser1514Thr)
c.7420G>C
c.10475G>C (p.Ser3492Thr)
c.629G>C (p.Ser210Thr)
c.1831G>C
c.1572G>C
c.3966G>C (n.3966G>C)
c.10349G>C (p.Ser3450Thr)
n.4278G>C
c.10478G>C (p.Ser3493Thr)
2g.73572352G>TCA347283092ALMS1c.10094G>T (p.Ser3365Ile)
c.3180G>T
c.7375G>T
c.4541G>T (p.Ser1514Ile)
c.7420G>T
c.10475G>T (p.Ser3492Ile)
c.629G>T (p.Ser210Ile)
c.1831G>T
c.1572G>T
c.3966G>T (n.3966G>T)
c.10349G>T (p.Ser3450Ile)
n.4278G>T
c.10478G>T (p.Ser3493Ile)
2g.73572353T>ACA347283094ALMS1c.10095T>A (p.Ser3365Arg)
c.3181T>A
c.7376T>A
c.4542T>A (p.Ser1514Arg)
c.7421T>A
c.10476T>A (p.Ser3492Arg)
c.630T>A (p.Ser210Arg)
c.1832T>A
c.1573T>A
c.3967T>A (n.3967T>A)
c.10350T>A (p.Ser3450Arg)
n.4279T>A
c.10479T>A (p.Ser3493Arg)
2g.73572353T>CCA427024427ALMS1c.10095T>C (p.Ser3365=)
c.3181T>C
c.7376T>C
c.4542T>C (p.Ser1514=)
c.7421T>C
c.10476T>C (p.Ser3492=)
c.630T>C (p.Ser210=)
c.1832T>C
c.1573T>C
c.3967T>C (n.3967T>C)
c.10350T>C (p.Ser3450=)
n.4279T>C
c.10479T>C (p.Ser3493=)
2g.73572353T>GCA347283096ALMS1c.10095T>G (p.Ser3365Arg)
c.3181T>G
c.7376T>G
c.4542T>G (p.Ser1514Arg)
c.7421T>G
c.10476T>G (p.Ser3492Arg)
c.630T>G (p.Ser210Arg)
c.1832T>G
c.1573T>G
c.3967T>G (n.3967T>G)
c.10350T>G (p.Ser3450Arg)
n.4279T>G
c.10479T>G (p.Ser3493Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572353T=CA1261020946ALMS1c.10095T= (p.Ser3365=)
c.3181T=
c.7376T=
c.4542T= (p.Ser1514=)
c.7421T=
c.10476T= (p.Ser3492=)
c.630T= (p.Ser210=)
c.1832T=
c.1573T=
c.3967T= (n.3967T=)
c.10350T= (p.Ser3450=)
n.4279T=
c.10479T= (p.Ser3493=)
2g.73572354G>ACA50386161ALMS1c.10096G>A (p.Asp3366Asn)
c.3182G>A
c.7377G>A
c.4543G>A (p.Asp1515Asn)
c.7422G>A
c.10477G>A (p.Asp3493Asn)
c.631G>A (p.Asp211Asn)
c.1833G>A
c.1574G>A
c.3968G>A (n.3968G>A)
c.10351G>A (p.Asp3451Asn)
n.4280G>A
c.10480G>A (p.Asp3494Asn)
 dbSNP
2g.73572354G>CCA347283100ALMS1c.10096G>C (p.Asp3366His)
c.3182G>C
c.7377G>C
c.4543G>C (p.Asp1515His)
c.7422G>C
c.10477G>C (p.Asp3493His)
c.631G>C (p.Asp211His)
c.1833G>C
c.1574G>C
c.3968G>C (n.3968G>C)
c.10351G>C (p.Asp3451His)
n.4280G>C
c.10480G>C (p.Asp3494His)
2g.73572354G=CA1261020951ALMS1c.10096G= (p.Asp3366=)
c.3182G=
c.7377G=
c.4543G= (p.Asp1515=)
c.7422G=
c.10477G= (p.Asp3493=)
c.631G= (p.Asp211=)
c.1833G=
c.1574G=
c.3968G= (n.3968G=)
c.10351G= (p.Asp3451=)
n.4280G=
c.10480G= (p.Asp3494=)
2g.73572354G>TCA347283102ALMS1c.10096G>T (p.Asp3366Tyr)
c.3182G>T
c.7377G>T
c.4543G>T (p.Asp1515Tyr)
c.7422G>T
c.10477G>T (p.Asp3493Tyr)
c.631G>T (p.Asp211Tyr)
c.1833G>T
c.1574G>T
c.3968G>T (n.3968G>T)
c.10351G>T (p.Asp3451Tyr)
n.4280G>T
c.10480G>T (p.Asp3494Tyr)
2g.73572355A>CCA347283104ALMS1c.10097A>C (p.Asp3366Ala)
c.3183A>C
c.7378A>C
c.4544A>C (p.Asp1515Ala)
c.7423A>C
c.10478A>C (p.Asp3493Ala)
c.632A>C (p.Asp211Ala)
c.1834A>C
c.1575A>C
c.3969A>C (n.3969A>C)
c.10352A>C (p.Asp3451Ala)
n.4281A>C
c.10481A>C (p.Asp3494Ala)
2g.73572355A>GCA347283105ALMS1c.10097A>G (p.Asp3366Gly)
c.3183A>G
c.7378A>G
c.4544A>G (p.Asp1515Gly)
c.7423A>G
c.10478A>G (p.Asp3493Gly)
c.632A>G (p.Asp211Gly)
c.1834A>G
c.1575A>G
c.3969A>G (n.3969A>G)
c.10352A>G (p.Asp3451Gly)
n.4281A>G
c.10481A>G (p.Asp3494Gly)
2g.73572355A>TCA347283108ALMS1c.10097A>T (p.Asp3366Val)
c.3183A>T
c.7378A>T
c.4544A>T (p.Asp1515Val)
c.7423A>T
c.10478A>T (p.Asp3493Val)
c.632A>T (p.Asp211Val)
c.1834A>T
c.1575A>T
c.3969A>T (n.3969A>T)
c.10352A>T (p.Asp3451Val)
n.4281A>T
c.10481A>T (p.Asp3494Val)
2g.73572356T>ACA347283114ALMS1c.10098T>A (p.Asp3366Glu)
c.3184T>A
c.7379T>A
c.4545T>A (p.Asp1515Glu)
c.7424T>A
c.10479T>A (p.Asp3493Glu)
c.633T>A (p.Asp211Glu)
c.1835T>A
c.1576T>A
c.3970T>A (n.3970T>A)
c.10353T>A (p.Asp3451Glu)
n.4282T>A
c.10482T>A (p.Asp3494Glu)
2g.73572356T>CCA427024440ALMS1c.10098T>C (p.Asp3366=)
c.3184T>C
c.7379T>C
c.4545T>C (p.Asp1515=)
c.7424T>C
c.10479T>C (p.Asp3493=)
c.633T>C (p.Asp211=)
c.1835T>C
c.1576T>C
c.3970T>C (n.3970T>C)
c.10353T>C (p.Asp3451=)
n.4282T>C
c.10482T>C (p.Asp3494=)
2g.73572356T>GCA347283112ALMS1c.10098T>G (p.Asp3366Glu)
c.3184T>G
c.7379T>G
c.4545T>G (p.Asp1515Glu)
c.7424T>G
c.10479T>G (p.Asp3493Glu)
c.633T>G (p.Asp211Glu)
c.1835T>G
c.1576T>G
c.3970T>G (n.3970T>G)
c.10353T>G (p.Asp3451Glu)
n.4282T>G
c.10482T>G (p.Asp3494Glu)
2g.73572356_73572357delinsTCCA1261020953ALMS1c.10098_10099delinsTC (p.Asp3366=)
c.3184_3185delinsTC
c.7379_7380delinsTC
c.4545_4546delinsTC (p.Asp1515=)
c.7424_7425delinsTC
c.10479_10480delinsTC (p.Asp3493=)
c.633_634delinsTC (p.Asp211=)
c.1835_1836delinsTC
c.1576_1577delinsTC
c.3970_3971delinsTC (n.3970_3971delinsTC)
c.10353_10354delinsTC (p.Asp3451=)
n.4282_4283delinsTC
c.10482_10483delinsTC (p.Asp3494=)
2g.73572357delCA534124624ALMS1c.10099del (p.Gln3367LysfsTer14)
c.3185del
c.7380del
c.4546del (p.Gln1516LysfsTer14)
c.7425del
c.10480del (p.Gln3494LysfsTer14)
c.634del (p.Gln212LysfsTer14)
c.1836del
c.1577del
c.3971del (n.3971del)
c.10354del (p.Gln3452LysfsTer14)
n.4283del
c.10483del (p.Gln3495LysfsTer14)
 dbSNP gnomAD v2 gnomAD v4
2g.73572357C>ACA347283117ALMS1c.10099C>A (p.Gln3367Lys)
c.3185C>A
c.7380C>A
c.4546C>A (p.Gln1516Lys)
c.7425C>A
c.10480C>A (p.Gln3494Lys)
c.634C>A (p.Gln212Lys)
c.1836C>A
c.1577C>A
c.3971C>A (n.3971C>A)
c.10354C>A (p.Gln3452Lys)
n.4283C>A
c.10483C>A (p.Gln3495Lys)
2g.73572357C=CA1261020963ALMS1c.10099C= (p.Gln3367=)
c.3185C=
c.7380C=
c.4546C= (p.Gln1516=)
c.7425C=
c.10480C= (p.Gln3494=)
c.634C= (p.Gln212=)
c.1836C=
c.1577C=
c.3971C= (n.3971C=)
c.10354C= (p.Gln3452=)
n.4283C=
c.10483C= (p.Gln3495=)
2g.73572357C>GCA1715010ALMS1c.10099C>G (p.Gln3367Glu)
c.3185C>G
c.7380C>G
c.4546C>G (p.Gln1516Glu)
c.7425C>G
c.10480C>G (p.Gln3494Glu)
c.634C>G (p.Gln212Glu)
c.1836C>G
c.1577C>G
c.3971C>G (n.3971C>G)
c.10354C>G (p.Gln3452Glu)
n.4283C>G
c.10483C>G (p.Gln3495Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572357C>TCA277038ALMS1c.10099C>T (p.Gln3367Ter)
c.3185C>T
c.7380C>T
c.4546C>T (p.Gln1516Ter)
c.7425C>T
c.10480C>T (p.Gln3494Ter)
c.634C>T (p.Gln212Ter)
c.1836C>T
c.1577C>T
c.3971C>T (n.3971C>T)
c.10354C>T (p.Gln3452Ter)
n.4283C>T
c.10483C>T (p.Gln3495Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched