Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.73572358A=CA1261020972ALMS1c.10100A= (p.Gln3367=)
c.3186A=
c.7381A=
c.4547A= (p.Gln1516=)
c.7426A=
c.10481A= (p.Gln3494=)
c.635A= (p.Gln212=)
c.1837A=
c.1578A=
c.3972A= (n.3972A=)
c.10355A= (p.Gln3452=)
n.4284A=
c.10484A= (p.Gln3495=)
2g.73572358A>CCA347283123ALMS1c.10100A>C (p.Gln3367Pro)
c.3186A>C
c.7381A>C
c.4547A>C (p.Gln1516Pro)
c.7426A>C
c.10481A>C (p.Gln3494Pro)
c.635A>C (p.Gln212Pro)
c.1837A>C
c.1578A>C
c.3972A>C (n.3972A>C)
c.10355A>C (p.Gln3452Pro)
n.4284A>C
c.10484A>C (p.Gln3495Pro)
 gnomAD v4
2g.73572358A>GCA347283125ALMS1c.10100A>G (p.Gln3367Arg)
c.3186A>G
c.7381A>G
c.4547A>G (p.Gln1516Arg)
c.7426A>G
c.10481A>G (p.Gln3494Arg)
c.635A>G (p.Gln212Arg)
c.1837A>G
c.1578A>G
c.3972A>G (n.3972A>G)
c.10355A>G (p.Gln3452Arg)
n.4284A>G
c.10484A>G (p.Gln3495Arg)
 ClinVar dbSNP gnomAD v4
2g.73572358A>TCA347283126ALMS1c.10100A>T (p.Gln3367Leu)
c.3186A>T
c.7381A>T
c.4547A>T (p.Gln1516Leu)
c.7426A>T
c.10481A>T (p.Gln3494Leu)
c.635A>T (p.Gln212Leu)
c.1837A>T
c.1578A>T
c.3972A>T (n.3972A>T)
c.10355A>T (p.Gln3452Leu)
n.4284A>T
c.10484A>T (p.Gln3495Leu)
2g.73572359A>CCA347283131ALMS1c.10101A>C (p.Gln3367His)
c.3187A>C
c.7382A>C
c.4548A>C (p.Gln1516His)
c.7427A>C
c.10482A>C (p.Gln3494His)
c.636A>C (p.Gln212His)
c.1838A>C
c.1579A>C
c.3973A>C (n.3973A>C)
c.10356A>C (p.Gln3452His)
n.4285A>C
c.10485A>C (p.Gln3495His)
2g.73572359A>GCA427024457ALMS1c.10101A>G (p.Gln3367=)
c.3187A>G
c.7382A>G
c.4548A>G (p.Gln1516=)
c.7427A>G
c.10482A>G (p.Gln3494=)
c.636A>G (p.Gln212=)
c.1838A>G
c.1579A>G
c.3973A>G (n.3973A>G)
c.10356A>G (p.Gln3452=)
n.4285A>G
c.10485A>G (p.Gln3495=)
 ClinVar dbSNP
2g.73572359A>TCA347283129ALMS1c.10101A>T (p.Gln3367His)
c.3187A>T
c.7382A>T
c.4548A>T (p.Gln1516His)
c.7427A>T
c.10482A>T (p.Gln3494His)
c.636A>T (p.Gln212His)
c.1838A>T
c.1579A>T
c.3973A>T (n.3973A>T)
c.10356A>T (p.Gln3452His)
n.4285A>T
c.10485A>T (p.Gln3495His)
2g.73572360G>ACA347283134ALMS1c.10102G>A (p.Asp3368Asn)
c.3188G>A
c.7383G>A
c.4549G>A (p.Asp1517Asn)
c.7428G>A
c.10483G>A (p.Asp3495Asn)
c.637G>A (p.Asp213Asn)
c.1839G>A
c.1580G>A
c.3974G>A (n.3974G>A)
c.10357G>A (p.Asp3453Asn)
n.4286G>A
c.10486G>A (p.Asp3496Asn)
 ClinVar dbSNP gnomAD v4
2g.73572360G>CCA50386177ALMS1c.10102G>C (p.Asp3368His)
c.3188G>C
c.7383G>C
c.4549G>C (p.Asp1517His)
c.7428G>C
c.10483G>C (p.Asp3495His)
c.637G>C (p.Asp213His)
c.1839G>C
c.1580G>C
c.3974G>C (n.3974G>C)
c.10357G>C (p.Asp3453His)
n.4286G>C
c.10486G>C (p.Asp3496His)
 dbSNP gnomAD v3 gnomAD v4
2g.73572360G=CA1261020974ALMS1c.10102G= (p.Asp3368=)
c.3188G=
c.7383G=
c.4549G= (p.Asp1517=)
c.7428G=
c.10483G= (p.Asp3495=)
c.637G= (p.Asp213=)
c.1839G=
c.1580G=
c.3974G= (n.3974G=)
c.10357G= (p.Asp3453=)
n.4286G=
c.10486G= (p.Asp3496=)
2g.73572360G>TCA347283136ALMS1c.10102G>T (p.Asp3368Tyr)
c.3188G>T
c.7383G>T
c.4549G>T (p.Asp1517Tyr)
c.7428G>T
c.10483G>T (p.Asp3495Tyr)
c.637G>T (p.Asp213Tyr)
c.1839G>T
c.1580G>T
c.3974G>T (n.3974G>T)
c.10357G>T (p.Asp3453Tyr)
n.4286G>T
c.10486G>T (p.Asp3496Tyr)
2g.73572361A=CA1261020977ALMS1c.10103A= (p.Asp3368=)
c.3189A=
c.7384A=
c.4550A= (p.Asp1517=)
c.7429A=
c.10484A= (p.Asp3495=)
c.638A= (p.Asp213=)
c.1840A=
c.1581A=
c.3975A= (n.3975A=)
c.10358A= (p.Asp3453=)
n.4287A=
c.10487A= (p.Asp3496=)
2g.73572361A>CCA347283139ALMS1c.10103A>C (p.Asp3368Ala)
c.3189A>C
c.7384A>C
c.4550A>C (p.Asp1517Ala)
c.7429A>C
c.10484A>C (p.Asp3495Ala)
c.638A>C (p.Asp213Ala)
c.1840A>C
c.1581A>C
c.3975A>C (n.3975A>C)
c.10358A>C (p.Asp3453Ala)
n.4287A>C
c.10487A>C (p.Asp3496Ala)
2g.73572361A>GCA1715012ALMS1c.10103A>G (p.Asp3368Gly)
c.3189A>G
c.7384A>G
c.4550A>G (p.Asp1517Gly)
c.7429A>G
c.10484A>G (p.Asp3495Gly)
c.638A>G (p.Asp213Gly)
c.1840A>G
c.1581A>G
c.3975A>G (n.3975A>G)
c.10358A>G (p.Asp3453Gly)
n.4287A>G
c.10487A>G (p.Asp3496Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572361A>TCA1715011ALMS1c.10103A>T (p.Asp3368Val)
c.3189A>T
c.7384A>T
c.4550A>T (p.Asp1517Val)
c.7429A>T
c.10484A>T (p.Asp3495Val)
c.638A>T (p.Asp213Val)
c.1840A>T
c.1581A>T
c.3975A>T (n.3975A>T)
c.10358A>T (p.Asp3453Val)
n.4287A>T
c.10487A>T (p.Asp3496Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572362T>ACA347283146ALMS1c.10104T>A (p.Asp3368Glu)
c.3190T>A
c.7385T>A
c.4551T>A (p.Asp1517Glu)
c.7430T>A
c.10485T>A (p.Asp3495Glu)
c.639T>A (p.Asp213Glu)
c.1841T>A
c.1582T>A
c.3976T>A (n.3976T>A)
c.10359T>A (p.Asp3453Glu)
n.4288T>A
c.10488T>A (p.Asp3496Glu)
 gnomAD v4
2g.73572362T>CCA1715013ALMS1c.10104T>C (p.Asp3368=)
c.3190T>C
c.7385T>C
c.4551T>C (p.Asp1517=)
c.7430T>C
c.10485T>C (p.Asp3495=)
c.639T>C (p.Asp213=)
c.1841T>C
c.1582T>C
c.3976T>C (n.3976T>C)
c.10359T>C (p.Asp3453=)
n.4288T>C
c.10488T>C (p.Asp3496=)
 ClinVar dbSNP ExAC gnomAD v2
2g.73572362T>GCA347283148ALMS1c.10104T>G (p.Asp3368Glu)
c.3190T>G
c.7385T>G
c.4551T>G (p.Asp1517Glu)
c.7430T>G
c.10485T>G (p.Asp3495Glu)
c.639T>G (p.Asp213Glu)
c.1841T>G
c.1582T>G
c.3976T>G (n.3976T>G)
c.10359T>G (p.Asp3453Glu)
n.4288T>G
c.10488T>G (p.Asp3496Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.73572362T=CA1261020981ALMS1c.10104T= (p.Asp3368=)
c.3190T=
c.7385T=
c.4551T= (p.Asp1517=)
c.7430T=
c.10485T= (p.Asp3495=)
c.639T= (p.Asp213=)
c.1841T=
c.1582T=
c.3976T= (n.3976T=)
c.10359T= (p.Asp3453=)
n.4288T=
c.10488T= (p.Asp3496=)
2g.73572363A=CA1261020983ALMS1c.10105A= (p.Ile3369=)
c.3191A=
c.7386A=
c.4552A= (p.Ile1518=)
c.7431A=
c.10486A= (p.Ile3496=)
c.640A= (p.Ile214=)
c.1842A=
c.1583A=
c.3977A= (n.3977A=)
c.10360A= (p.Ile3454=)
n.4289A=
c.10489A= (p.Ile3497=)
2g.73572363A>CCA347283154ALMS1c.10105A>C (p.Ile3369Leu)
c.3191A>C
c.7386A>C
c.4552A>C (p.Ile1518Leu)
c.7431A>C
c.10486A>C (p.Ile3496Leu)
c.640A>C (p.Ile214Leu)
c.1842A>C
c.1583A>C
c.3977A>C (n.3977A>C)
c.10360A>C (p.Ile3454Leu)
n.4289A>C
c.10489A>C (p.Ile3497Leu)
2g.73572363A>GCA347283156ALMS1c.10105A>G (p.Ile3369Val)
c.3191A>G
c.7386A>G
c.4552A>G (p.Ile1518Val)
c.7431A>G
c.10486A>G (p.Ile3496Val)
c.640A>G (p.Ile214Val)
c.1842A>G
c.1583A>G
c.3977A>G (n.3977A>G)
c.10360A>G (p.Ile3454Val)
n.4289A>G
c.10489A>G (p.Ile3497Val)
 dbSNP gnomAD v2 gnomAD v4
2g.73572363A>TCA347283158ALMS1c.10105A>T (p.Ile3369Phe)
c.3191A>T
c.7386A>T
c.4552A>T (p.Ile1518Phe)
c.7431A>T
c.10486A>T (p.Ile3496Phe)
c.640A>T (p.Ile214Phe)
c.1842A>T
c.1583A>T
c.3977A>T (n.3977A>T)
c.10360A>T (p.Ile3454Phe)
n.4289A>T
c.10489A>T (p.Ile3497Phe)
2g.73572364T>ACA347283161ALMS1c.10106T>A (p.Ile3369Asn)
c.3192T>A
c.7387T>A
c.4553T>A (p.Ile1518Asn)
c.7432T>A
c.10487T>A (p.Ile3496Asn)
c.641T>A (p.Ile214Asn)
c.1843T>A
c.1584T>A
c.3978T>A (n.3978T>A)
c.10361T>A (p.Ile3454Asn)
n.4290T>A
c.10490T>A (p.Ile3497Asn)
2g.73572364T>CCA347283163ALMS1c.10106T>C (p.Ile3369Thr)
c.3192T>C
c.7387T>C
c.4553T>C (p.Ile1518Thr)
c.7432T>C
c.10487T>C (p.Ile3496Thr)
c.641T>C (p.Ile214Thr)
c.1843T>C
c.1584T>C
c.3978T>C (n.3978T>C)
c.10361T>C (p.Ile3454Thr)
n.4290T>C
c.10490T>C (p.Ile3497Thr)
2g.73572364T>GCA347283166ALMS1c.10106T>G (p.Ile3369Ser)
c.3192T>G
c.7387T>G
c.4553T>G (p.Ile1518Ser)
c.7432T>G
c.10487T>G (p.Ile3496Ser)
c.641T>G (p.Ile214Ser)
c.1843T>G
c.1584T>G
c.3978T>G (n.3978T>G)
c.10361T>G (p.Ile3454Ser)
n.4290T>G
c.10490T>G (p.Ile3497Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.73572364T=CA1261020985ALMS1c.10106T= (p.Ile3369=)
c.3192T=
c.7387T=
c.4553T= (p.Ile1518=)
c.7432T=
c.10487T= (p.Ile3496=)
c.641T= (p.Ile214=)
c.1843T=
c.1584T=
c.3978T= (n.3978T=)
c.10361T= (p.Ile3454=)
n.4290T=
c.10490T= (p.Ile3497=)
2g.73572365T>ACA427024487ALMS1c.10107T>A (p.Ile3369=)
c.3193T>A
c.7388T>A
c.4554T>A (p.Ile1518=)
c.7433T>A
c.10488T>A (p.Ile3496=)
c.642T>A (p.Ile214=)
c.1844T>A
c.1585T>A
c.3979T>A (n.3979T>A)
c.10362T>A (p.Ile3454=)
n.4291T>A
c.10491T>A (p.Ile3497=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572365T>CCA427024488ALMS1c.10107T>C (p.Ile3369=)
c.3193T>C
c.7388T>C
c.4554T>C (p.Ile1518=)
c.7433T>C
c.10488T>C (p.Ile3496=)
c.642T>C (p.Ile214=)
c.1844T>C
c.1585T>C
c.3979T>C (n.3979T>C)
c.10362T>C (p.Ile3454=)
n.4291T>C
c.10491T>C (p.Ile3497=)
2g.73572365T>GCA347283169ALMS1c.10107T>G (p.Ile3369Met)
c.3193T>G
c.7388T>G
c.4554T>G (p.Ile1518Met)
c.7433T>G
c.10488T>G (p.Ile3496Met)
c.642T>G (p.Ile214Met)
c.1844T>G
c.1585T>G
c.3979T>G (n.3979T>G)
c.10362T>G (p.Ile3454Met)
n.4291T>G
c.10491T>G (p.Ile3497Met)
2g.73572365T=CA1261020988ALMS1c.10107T= (p.Ile3369=)
c.3193T=
c.7388T=
c.4554T= (p.Ile1518=)
c.7433T=
c.10488T= (p.Ile3496=)
c.642T= (p.Ile214=)
c.1844T=
c.1585T=
c.3979T= (n.3979T=)
c.10362T= (p.Ile3454=)
n.4291T=
c.10491T= (p.Ile3497=)
2g.73572366T>ACA347283172ALMS1c.10108T>A (p.Cys3370Ser)
c.3194T>A
c.7389T>A
c.4555T>A (p.Cys1519Ser)
c.7434T>A
c.10489T>A (p.Cys3497Ser)
c.643T>A (p.Cys215Ser)
c.1845T>A
c.1586T>A
c.3980T>A (n.3980T>A)
c.10363T>A (p.Cys3455Ser)
n.4292T>A
c.10492T>A (p.Cys3498Ser)
2g.73572366T>CCA347283175ALMS1c.10108T>C (p.Cys3370Arg)
c.3194T>C
c.7389T>C
c.4555T>C (p.Cys1519Arg)
c.7434T>C
c.10489T>C (p.Cys3497Arg)
c.643T>C (p.Cys215Arg)
c.1845T>C
c.1586T>C
c.3980T>C (n.3980T>C)
c.10363T>C (p.Cys3455Arg)
n.4292T>C
c.10492T>C (p.Cys3498Arg)
2g.73572366T>GCA347283177ALMS1c.10108T>G (p.Cys3370Gly)
c.3194T>G
c.7389T>G
c.4555T>G (p.Cys1519Gly)
c.7434T>G
c.10489T>G (p.Cys3497Gly)
c.643T>G (p.Cys215Gly)
c.1845T>G
c.1586T>G
c.3980T>G (n.3980T>G)
c.10363T>G (p.Cys3455Gly)
n.4292T>G
c.10492T>G (p.Cys3498Gly)
2g.73572367G>ACA347283180ALMS1c.10109G>A (p.Cys3370Tyr)
c.3195G>A
c.7390G>A
c.4556G>A (p.Cys1519Tyr)
c.7435G>A
c.10490G>A (p.Cys3497Tyr)
c.644G>A (p.Cys215Tyr)
c.1846G>A
c.1587G>A
c.3981G>A (n.3981G>A)
c.10364G>A (p.Cys3455Tyr)
n.4293G>A
c.10493G>A (p.Cys3498Tyr)
 ClinVar gnomAD v4
2g.73572367G>CCA347283183ALMS1c.10109G>C (p.Cys3370Ser)
c.3195G>C
c.7390G>C
c.4556G>C (p.Cys1519Ser)
c.7435G>C
c.10490G>C (p.Cys3497Ser)
c.644G>C (p.Cys215Ser)
c.1846G>C
c.1587G>C
c.3981G>C (n.3981G>C)
c.10364G>C (p.Cys3455Ser)
n.4293G>C
c.10493G>C (p.Cys3498Ser)
 ClinVar gnomAD v4
2g.73572367G>TCA347283185ALMS1c.10109G>T (p.Cys3370Phe)
c.3195G>T
c.7390G>T
c.4556G>T (p.Cys1519Phe)
c.7435G>T
c.10490G>T (p.Cys3497Phe)
c.644G>T (p.Cys215Phe)
c.1846G>T
c.1587G>T
c.3981G>T (n.3981G>T)
c.10364G>T (p.Cys3455Phe)
n.4293G>T
c.10493G>T (p.Cys3498Phe)
2g.73572368C>ACA347283191ALMS1c.10110C>A (p.Cys3370Ter)
c.3196C>A
c.7391C>A
c.4557C>A (p.Cys1519Ter)
c.7436C>A
c.10491C>A (p.Cys3497Ter)
c.645C>A (p.Cys215Ter)
c.1847C>A
c.1588C>A
c.3982C>A (n.3982C>A)
c.10365C>A (p.Cys3455Ter)
n.4294C>A
c.10494C>A (p.Cys3498Ter)
2g.73572368C>GCA347283188ALMS1c.10110C>G (p.Cys3370Trp)
c.3196C>G
c.7391C>G
c.4557C>G (p.Cys1519Trp)
c.7436C>G
c.10491C>G (p.Cys3497Trp)
c.645C>G (p.Cys215Trp)
c.1847C>G
c.1588C>G
c.3982C>G (n.3982C>G)
c.10365C>G (p.Cys3455Trp)
n.4294C>G
c.10494C>G (p.Cys3498Trp)
2g.73572368C>TCA427024492ALMS1c.10110C>T (p.Cys3370=)
c.3196C>T
c.7391C>T
c.4557C>T (p.Cys1519=)
c.7436C>T
c.10491C>T (p.Cys3497=)
c.645C>T (p.Cys215=)
c.1847C>T
c.1588C>T
c.3982C>T (n.3982C>T)
c.10365C>T (p.Cys3455=)
n.4294C>T
c.10494C>T (p.Cys3498=)
2g.73572369C>ACA347283195ALMS1c.10111C>A (p.His3371Asn)
c.3197C>A
c.7392C>A
c.4558C>A (p.His1520Asn)
c.7437C>A
c.10492C>A (p.His3498Asn)
c.646C>A (p.His216Asn)
c.1848C>A
c.1589C>A
c.3983C>A (n.3983C>A)
c.10366C>A (p.His3456Asn)
n.4295C>A
c.10495C>A (p.His3499Asn)
2g.73572369C=CA1261020991ALMS1c.10111C= (p.His3371=)
c.3197C=
c.7392C=
c.4558C= (p.His1520=)
c.7437C=
c.10492C= (p.His3498=)
c.646C= (p.His216=)
c.1848C=
c.1589C=
c.3983C= (n.3983C=)
c.10366C= (p.His3456=)
n.4295C=
c.10495C= (p.His3499=)
2g.73572369C>GCA347283197ALMS1c.10111C>G (p.His3371Asp)
c.3197C>G
c.7392C>G
c.4558C>G (p.His1520Asp)
c.7437C>G
c.10492C>G (p.His3498Asp)
c.646C>G (p.His216Asp)
c.1848C>G
c.1589C>G
c.3983C>G (n.3983C>G)
c.10366C>G (p.His3456Asp)
n.4295C>G
c.10495C>G (p.His3499Asp)
2g.73572369C>TCA347283199ALMS1c.10111C>T (p.His3371Tyr)
c.3197C>T
c.7392C>T
c.4558C>T (p.His1520Tyr)
c.7437C>T
c.10492C>T (p.His3498Tyr)
c.646C>T (p.His216Tyr)
c.1848C>T
c.1589C>T
c.3983C>T (n.3983C>T)
c.10366C>T (p.His3456Tyr)
n.4295C>T
c.10495C>T (p.His3499Tyr)
 dbSNP
2g.73572370A=CA1261020996ALMS1c.10112A= (p.His3371=)
c.3198A=
c.7393A=
c.4559A= (p.His1520=)
c.7438A=
c.10493A= (p.His3498=)
c.647A= (p.His216=)
c.1849A=
c.1590A=
c.3984A= (n.3984A=)
c.10367A= (p.His3456=)
n.4296A=
c.10496A= (p.His3499=)
2g.73572370A>CCA347283202ALMS1c.10112A>C (p.His3371Pro)
c.3198A>C
c.7393A>C
c.4559A>C (p.His1520Pro)
c.7438A>C
c.10493A>C (p.His3498Pro)
c.647A>C (p.His216Pro)
c.1849A>C
c.1590A>C
c.3984A>C (n.3984A>C)
c.10367A>C (p.His3456Pro)
n.4296A>C
c.10496A>C (p.His3499Pro)
2g.73572370A>GCA1715014ALMS1c.10112A>G (p.His3371Arg)
c.3198A>G
c.7393A>G
c.4559A>G (p.His1520Arg)
c.7438A>G
c.10493A>G (p.His3498Arg)
c.647A>G (p.His216Arg)
c.1849A>G
c.1590A>G
c.3984A>G (n.3984A>G)
c.10367A>G (p.His3456Arg)
n.4296A>G
c.10496A>G (p.His3499Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572370A>TCA347283206ALMS1c.10112A>T (p.His3371Leu)
c.3198A>T
c.7393A>T
c.4559A>T (p.His1520Leu)
c.7438A>T
c.10493A>T (p.His3498Leu)
c.647A>T (p.His216Leu)
c.1849A>T
c.1590A>T
c.3984A>T (n.3984A>T)
c.10367A>T (p.His3456Leu)
n.4296A>T
c.10496A>T (p.His3499Leu)
2g.73572371T>ACA347283210ALMS1c.10113T>A (p.His3371Gln)
c.3199T>A
c.7394T>A
c.4560T>A (p.His1520Gln)
c.7439T>A
c.10494T>A (p.His3498Gln)
c.648T>A (p.His216Gln)
c.1850T>A
c.1591T>A
c.3985T>A (n.3985T>A)
c.10368T>A (p.His3456Gln)
n.4297T>A
c.10497T>A (p.His3499Gln)
2g.73572371T>CCA1715015ALMS1c.10113T>C (p.His3371=)
c.3199T>C
c.7394T>C
c.4560T>C (p.His1520=)
c.7439T>C
c.10494T>C (p.His3498=)
c.648T>C (p.His216=)
c.1850T>C
c.1591T>C
c.3985T>C (n.3985T>C)
c.10368T>C (p.His3456=)
n.4297T>C
c.10497T>C (p.His3499=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572371T>GCA347283214ALMS1c.10113T>G (p.His3371Gln)
c.3199T>G
c.7394T>G
c.4560T>G (p.His1520Gln)
c.7439T>G
c.10494T>G (p.His3498Gln)
c.648T>G (p.His216Gln)
c.1850T>G
c.1591T>G
c.3985T>G (n.3985T>G)
c.10368T>G (p.His3456Gln)
n.4297T>G
c.10497T>G (p.His3499Gln)
2g.73572371T=CA1261020999ALMS1c.10113T= (p.His3371=)
c.3199T=
c.7394T=
c.4560T= (p.His1520=)
c.7439T=
c.10494T= (p.His3498=)
c.648T= (p.His216=)
c.1850T=
c.1591T=
c.3985T= (n.3985T=)
c.10368T= (p.His3456=)
n.4297T=
c.10497T= (p.His3499=)
2g.73572372G>ACA347283218ALMS1c.10114G>A (p.Glu3372Lys)
c.3200G>A
c.7395G>A
c.4561G>A (p.Glu1521Lys)
c.7440G>A
c.10495G>A (p.Glu3499Lys)
c.649G>A (p.Glu217Lys)
c.1851G>A
c.1592G>A
c.3986G>A (n.3986G>A)
c.10369G>A (p.Glu3457Lys)
n.4298G>A
c.10498G>A (p.Glu3500Lys)
2g.73572372G>CCA347283220ALMS1c.10114G>C (p.Glu3372Gln)
c.3200G>C
c.7395G>C
c.4561G>C (p.Glu1521Gln)
c.7440G>C
c.10495G>C (p.Glu3499Gln)
c.649G>C (p.Glu217Gln)
c.1851G>C
c.1592G>C
c.3986G>C (n.3986G>C)
c.10369G>C (p.Glu3457Gln)
n.4298G>C
c.10498G>C (p.Glu3500Gln)
2g.73572372G>TCA347283222ALMS1c.10114G>T (p.Glu3372Ter)
c.3200G>T
c.7395G>T
c.4561G>T (p.Glu1521Ter)
c.7440G>T
c.10495G>T (p.Glu3499Ter)
c.649G>T (p.Glu217Ter)
c.1851G>T
c.1592G>T
c.3986G>T (n.3986G>T)
c.10369G>T (p.Glu3457Ter)
n.4298G>T
c.10498G>T (p.Glu3500Ter)
2g.73572373A=CA1261021003ALMS1c.10115A= (p.Glu3372=)
c.3201A=
c.7396A=
c.4562A= (p.Glu1521=)
c.7441A=
c.10496A= (p.Glu3499=)
c.650A= (p.Glu217=)
c.1852A=
c.1593A=
c.3987A= (n.3987A=)
c.10370A= (p.Glu3457=)
n.4299A=
c.10499A= (p.Glu3500=)
2g.73572373A>CCA347283226ALMS1c.10115A>C (p.Glu3372Ala)
c.3201A>C
c.7396A>C
c.4562A>C (p.Glu1521Ala)
c.7441A>C
c.10496A>C (p.Glu3499Ala)
c.650A>C (p.Glu217Ala)
c.1852A>C
c.1593A>C
c.3987A>C (n.3987A>C)
c.10370A>C (p.Glu3457Ala)
n.4299A>C
c.10499A>C (p.Glu3500Ala)
2g.73572373A>GCA347283229ALMS1c.10115A>G (p.Glu3372Gly)
c.3201A>G
c.7396A>G
c.4562A>G (p.Glu1521Gly)
c.7441A>G
c.10496A>G (p.Glu3499Gly)
c.650A>G (p.Glu217Gly)
c.1852A>G
c.1593A>G
c.3987A>G (n.3987A>G)
c.10370A>G (p.Glu3457Gly)
n.4299A>G
c.10499A>G (p.Glu3500Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.73572373A>TCA50386204ALMS1c.10115A>T (p.Glu3372Val)
c.3201A>T
c.7396A>T
c.4562A>T (p.Glu1521Val)
c.7441A>T
c.10496A>T (p.Glu3499Val)
c.650A>T (p.Glu217Val)
c.1852A>T
c.1593A>T
c.3987A>T (n.3987A>T)
c.10370A>T (p.Glu3457Val)
n.4299A>T
c.10499A>T (p.Glu3500Val)
 dbSNP
2g.73572374A=CA1261021009ALMS1c.10116A= (p.Glu3372=)
c.3202A=
c.7397A=
c.4563A= (p.Glu1521=)
c.7442A=
c.10497A= (p.Glu3499=)
c.651A= (p.Glu217=)
c.1853A=
c.1594A=
c.3988A= (n.3988A=)
c.10371A= (p.Glu3457=)
n.4300A=
c.10500A= (p.Glu3500=)
2g.73572374A>CCA347283233ALMS1c.10116A>C (p.Glu3372Asp)
c.3202A>C
c.7397A>C
c.4563A>C (p.Glu1521Asp)
c.7442A>C
c.10497A>C (p.Glu3499Asp)
c.651A>C (p.Glu217Asp)
c.1853A>C
c.1594A>C
c.3988A>C (n.3988A>C)
c.10371A>C (p.Glu3457Asp)
n.4300A>C
c.10500A>C (p.Glu3500Asp)
2g.73572374A>GCA427024521ALMS1c.10116A>G (p.Glu3372=)
c.3202A>G
c.7397A>G
c.4563A>G (p.Glu1521=)
c.7442A>G
c.10497A>G (p.Glu3499=)
c.651A>G (p.Glu217=)
c.1853A>G
c.1594A>G
c.3988A>G (n.3988A>G)
c.10371A>G (p.Glu3457=)
n.4300A>G
c.10500A>G (p.Glu3500=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572374A>TCA347283235ALMS1c.10116A>T (p.Glu3372Asp)
c.3202A>T
c.7397A>T
c.4563A>T (p.Glu1521Asp)
c.7442A>T
c.10497A>T (p.Glu3499Asp)
c.651A>T (p.Glu217Asp)
c.1853A>T
c.1594A>T
c.3988A>T (n.3988A>T)
c.10371A>T (p.Glu3457Asp)
n.4300A>T
c.10500A>T (p.Glu3500Asp)
2g.73572375T>ACA347283239ALMS1c.10117T>A (p.Ser3373Thr)
c.3203T>A
c.7398T>A
c.4564T>A (p.Ser1522Thr)
c.7443T>A
c.10498T>A (p.Ser3500Thr)
c.652T>A (p.Ser218Thr)
c.1854T>A
c.1595T>A
c.3989T>A (n.3989T>A)
c.10372T>A (p.Ser3458Thr)
n.4301T>A
c.10501T>A (p.Ser3501Thr)
2g.73572375T>CCA347283243ALMS1c.10117T>C (p.Ser3373Pro)
c.3203T>C
c.7398T>C
c.4564T>C (p.Ser1522Pro)
c.7443T>C
c.10498T>C (p.Ser3500Pro)
c.652T>C (p.Ser218Pro)
c.1854T>C
c.1595T>C
c.3989T>C (n.3989T>C)
c.10372T>C (p.Ser3458Pro)
n.4301T>C
c.10501T>C (p.Ser3501Pro)
2g.73572375T>GCA347283241ALMS1c.10117T>G (p.Ser3373Ala)
c.3203T>G
c.7398T>G
c.4564T>G (p.Ser1522Ala)
c.7443T>G
c.10498T>G (p.Ser3500Ala)
c.652T>G (p.Ser218Ala)
c.1854T>G
c.1595T>G
c.3989T>G (n.3989T>G)
c.10372T>G (p.Ser3458Ala)
n.4301T>G
c.10501T>G (p.Ser3501Ala)
2g.73572376C>ACA347283245ALMS1c.10118C>A (p.Ser3373Tyr)
c.3204C>A
c.7399C>A
c.4565C>A (p.Ser1522Tyr)
c.7444C>A
c.10499C>A (p.Ser3500Tyr)
c.653C>A (p.Ser218Tyr)
c.1855C>A
c.1596C>A
c.3990C>A (n.3990C>A)
c.10373C>A (p.Ser3458Tyr)
n.4302C>A
c.10502C>A (p.Ser3501Tyr)
2g.73572376C=CA1261021012ALMS1c.10118C= (p.Ser3373=)
c.3204C=
c.7399C=
c.4565C= (p.Ser1522=)
c.7444C=
c.10499C= (p.Ser3500=)
c.653C= (p.Ser218=)
c.1855C=
c.1596C=
c.3990C= (n.3990C=)
c.10373C= (p.Ser3458=)
n.4302C=
c.10502C= (p.Ser3501=)
2g.73572376C>GCA50386208ALMS1c.10118C>G (p.Ser3373Cys)
c.3204C>G
c.7399C>G
c.4565C>G (p.Ser1522Cys)
c.7444C>G
c.10499C>G (p.Ser3500Cys)
c.653C>G (p.Ser218Cys)
c.1855C>G
c.1596C>G
c.3990C>G (n.3990C>G)
c.10373C>G (p.Ser3458Cys)
n.4302C>G
c.10502C>G (p.Ser3501Cys)
 dbSNP gnomAD v4
2g.73572376C>TCA347283248ALMS1c.10118C>T (p.Ser3373Phe)
c.3204C>T
c.7399C>T
c.4565C>T (p.Ser1522Phe)
c.7444C>T
c.10499C>T (p.Ser3500Phe)
c.653C>T (p.Ser218Phe)
c.1855C>T
c.1596C>T
c.3990C>T (n.3990C>T)
c.10373C>T (p.Ser3458Phe)
n.4302C>T
c.10502C>T (p.Ser3501Phe)
2g.73572377T>ACA427024527ALMS1c.10119T>A (p.Ser3373=)
c.3205T>A
c.7400T>A
c.4566T>A (p.Ser1522=)
c.7445T>A
c.10500T>A (p.Ser3500=)
c.654T>A (p.Ser218=)
c.1856T>A
c.1597T>A
c.3991T>A (n.3991T>A)
c.10374T>A (p.Ser3458=)
n.4303T>A
c.10503T>A (p.Ser3501=)
2g.73572377T>CCA427024530ALMS1c.10119T>C (p.Ser3373=)
c.3205T>C
c.7400T>C
c.4566T>C (p.Ser1522=)
c.7445T>C
c.10500T>C (p.Ser3500=)
c.654T>C (p.Ser218=)
c.1856T>C
c.1597T>C
c.3991T>C (n.3991T>C)
c.10374T>C (p.Ser3458=)
n.4303T>C
c.10503T>C (p.Ser3501=)
2g.73572377T>GCA427024528ALMS1c.10119T>G (p.Ser3373=)
c.3205T>G
c.7400T>G
c.4566T>G (p.Ser1522=)
c.7445T>G
c.10500T>G (p.Ser3500=)
c.654T>G (p.Ser218=)
c.1856T>G
c.1597T>G
c.3991T>G (n.3991T>G)
c.10374T>G (p.Ser3458=)
n.4303T>G
c.10503T>G (p.Ser3501=)
2g.73572378T>ACA1715016ALMS1c.10120T>A (p.Leu3374Met)
c.3206T>A
c.7401T>A
c.4567T>A (p.Leu1523Met)
c.7446T>A
c.10501T>A (p.Leu3501Met)
c.655T>A (p.Leu219Met)
c.1857T>A
c.1598T>A
c.3992T>A (n.3992T>A)
c.10375T>A (p.Leu3459Met)
n.4304T>A
c.10504T>A (p.Leu3502Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572378T>CCA427024534ALMS1c.10120T>C (p.Leu3374=)
c.3206T>C
c.7401T>C
c.4567T>C (p.Leu1523=)
c.7446T>C
c.10501T>C (p.Leu3501=)
c.655T>C (p.Leu219=)
c.1857T>C
c.1598T>C
c.3992T>C (n.3992T>C)
c.10375T>C (p.Leu3459=)
n.4304T>C
c.10504T>C (p.Leu3502=)
 dbSNP
2g.73572378T>GCA347283251ALMS1c.10120T>G (p.Leu3374Val)
c.3206T>G
c.7401T>G
c.4567T>G (p.Leu1523Val)
c.7446T>G
c.10501T>G (p.Leu3501Val)
c.655T>G (p.Leu219Val)
c.1857T>G
c.1598T>G
c.3992T>G (n.3992T>G)
c.10375T>G (p.Leu3459Val)
n.4304T>G
c.10504T>G (p.Leu3502Val)
2g.73572378T=CA1261021017ALMS1c.10120T= (p.Leu3374=)
c.3206T=
c.7401T=
c.4567T= (p.Leu1523=)
c.7446T=
c.10501T= (p.Leu3501=)
c.655T= (p.Leu219=)
c.1857T=
c.1598T=
c.3992T= (n.3992T=)
c.10375T= (p.Leu3459=)
n.4304T=
c.10504T= (p.Leu3502=)
2g.73572379T>ACA347283255ALMS1c.10121T>A (p.Leu3374Ter)
c.3207T>A
c.7402T>A
c.4568T>A (p.Leu1523Ter)
c.7447T>A
c.10502T>A (p.Leu3501Ter)
c.656T>A (p.Leu219Ter)
c.1858T>A
c.1599T>A
c.3993T>A (n.3993T>A)
c.10376T>A (p.Leu3459Ter)
n.4305T>A
c.10505T>A (p.Leu3502Ter)
2g.73572379T>CCA347283257ALMS1c.10121T>C (p.Leu3374Ser)
c.3207T>C
c.7402T>C
c.4568T>C (p.Leu1523Ser)
c.7447T>C
c.10502T>C (p.Leu3501Ser)
c.656T>C (p.Leu219Ser)
c.1858T>C
c.1599T>C
c.3993T>C (n.3993T>C)
c.10376T>C (p.Leu3459Ser)
n.4305T>C
c.10505T>C (p.Leu3502Ser)
2g.73572379T>GCA347283259ALMS1c.10121T>G (p.Leu3374Trp)
c.3207T>G
c.7402T>G
c.4568T>G (p.Leu1523Trp)
c.7447T>G
c.10502T>G (p.Leu3501Trp)
c.656T>G (p.Leu219Trp)
c.1858T>G
c.1599T>G
c.3993T>G (n.3993T>G)
c.10376T>G (p.Leu3459Trp)
n.4305T>G
c.10505T>G (p.Leu3502Trp)
2g.73572380G>ACA427024549ALMS1c.10122G>A (p.Leu3374=)
c.3208G>A
c.7403G>A
c.4569G>A (p.Leu1523=)
c.7448G>A
c.10503G>A (p.Leu3501=)
c.657G>A (p.Leu219=)
c.1859G>A
c.1600G>A
c.3994G>A (n.3994G>A)
c.10377G>A (p.Leu3459=)
n.4306G>A
c.10506G>A (p.Leu3502=)
 gnomAD v4
2g.73572380G>CCA347283262ALMS1c.10122G>C (p.Leu3374Phe)
c.3208G>C
c.7403G>C
c.4569G>C (p.Leu1523Phe)
c.7448G>C
c.10503G>C (p.Leu3501Phe)
c.657G>C (p.Leu219Phe)
c.1859G>C
c.1600G>C
c.3994G>C (n.3994G>C)
c.10377G>C (p.Leu3459Phe)
n.4306G>C
c.10506G>C (p.Leu3502Phe)
 gnomAD v4
2g.73572380G>TCA347283264ALMS1c.10122G>T (p.Leu3374Phe)
c.3208G>T
c.7403G>T
c.4569G>T (p.Leu1523Phe)
c.7448G>T
c.10503G>T (p.Leu3501Phe)
c.657G>T (p.Leu219Phe)
c.1859G>T
c.1600G>T
c.3994G>T (n.3994G>T)
c.10377G>T (p.Leu3459Phe)
n.4306G>T
c.10506G>T (p.Leu3502Phe)
2g.73572381G>ACA347283270ALMS1c.10123G>A (p.Gly3375Arg)
c.3209G>A
c.7404G>A
c.4570G>A (p.Gly1524Arg)
c.7449G>A
c.10504G>A (p.Gly3502Arg)
c.658G>A (p.Gly220Arg)
c.1860G>A
c.1601G>A
c.3995G>A (n.3995G>A)
c.10378G>A (p.Gly3460Arg)
n.4307G>A
c.10507G>A (p.Gly3503Arg)
2g.73572381G>CCA347283268ALMS1c.10123G>C (p.Gly3375Arg)
c.3209G>C
c.7404G>C
c.4570G>C (p.Gly1524Arg)
c.7449G>C
c.10504G>C (p.Gly3502Arg)
c.658G>C (p.Gly220Arg)
c.1860G>C
c.1601G>C
c.3995G>C (n.3995G>C)
c.10378G>C (p.Gly3460Arg)
n.4307G>C
c.10507G>C (p.Gly3503Arg)
2g.73572381G>TCA347283267ALMS1c.10123G>T (p.Gly3375Ter)
c.3209G>T
c.7404G>T
c.4570G>T (p.Gly1524Ter)
c.7449G>T
c.10504G>T (p.Gly3502Ter)
c.658G>T (p.Gly220Ter)
c.1860G>T
c.1601G>T
c.3995G>T (n.3995G>T)
c.10378G>T (p.Gly3460Ter)
n.4307G>T
c.10507G>T (p.Gly3503Ter)
2g.73572382G>ACA347283274ALMS1c.10124G>A (p.Gly3375Glu)
c.3210G>A
c.7405G>A
c.4571G>A (p.Gly1524Glu)
c.7450G>A
c.10505G>A (p.Gly3502Glu)
c.659G>A (p.Gly220Glu)
c.1861G>A
c.1602G>A
c.3996G>A (n.3996G>A)
c.10379G>A (p.Gly3460Glu)
n.4308G>A
c.10508G>A (p.Gly3503Glu)
 gnomAD v4
2g.73572382G>CCA347283275ALMS1c.10124G>C (p.Gly3375Ala)
c.3210G>C
c.7405G>C
c.4571G>C (p.Gly1524Ala)
c.7450G>C
c.10505G>C (p.Gly3502Ala)
c.659G>C (p.Gly220Ala)
c.1861G>C
c.1602G>C
c.3996G>C (n.3996G>C)
c.10379G>C (p.Gly3460Ala)
n.4308G>C
c.10508G>C (p.Gly3503Ala)
2g.73572382G>TCA347283278ALMS1c.10124G>T (p.Gly3375Val)
c.3210G>T
c.7405G>T
c.4571G>T (p.Gly1524Val)
c.7450G>T
c.10505G>T (p.Gly3502Val)
c.659G>T (p.Gly220Val)
c.1861G>T
c.1602G>T
c.3996G>T (n.3996G>T)
c.10379G>T (p.Gly3460Val)
n.4308G>T
c.10508G>T (p.Gly3503Val)
2g.73572384_73572387delCA2580068165ALMS1c.10126_10129del (p.Lys3376ValfsTer4)
c.3212_3215del
c.7407_7410del
c.4573_4576del (p.Lys1525ValfsTer4)
c.7452_7455del
c.10507_10510del (p.Lys3503ValfsTer4)
c.661_664del (p.Lys221ValfsTer4)
c.1863_1866del
c.1604_1607del
c.3998_4001del (n.3998_4001del)
c.10381_10384del (p.Lys3461ValfsTer4)
n.4310_4313del
c.10510_10513del (p.Lys3504ValfsTer4)
 ClinVar gnomAD v4
2g.73572383A=CA1261021021ALMS1c.10125A= (p.Gly3375=)
c.3211A=
c.7406A=
c.4572A= (p.Gly1524=)
c.7451A=
c.10506A= (p.Gly3502=)
c.660A= (p.Gly220=)
c.1862A=
c.1603A=
c.3997A= (n.3997A=)
c.10380A= (p.Gly3460=)
n.4309A=
c.10509A= (p.Gly3503=)
2g.73572383A>CCA427024558ALMS1c.10125A>C (p.Gly3375=)
c.3211A>C
c.7406A>C
c.4572A>C (p.Gly1524=)
c.7451A>C
c.10506A>C (p.Gly3502=)
c.660A>C (p.Gly220=)
c.1862A>C
c.1603A>C
c.3997A>C (n.3997A>C)
c.10380A>C (p.Gly3460=)
n.4309A>C
c.10509A>C (p.Gly3503=)
2g.73572383A>GCA427024560ALMS1c.10125A>G (p.Gly3375=)
c.3211A>G
c.7406A>G
c.4572A>G (p.Gly1524=)
c.7451A>G
c.10506A>G (p.Gly3502=)
c.660A>G (p.Gly220=)
c.1862A>G
c.1603A>G
c.3997A>G (n.3997A>G)
c.10380A>G (p.Gly3460=)
n.4309A>G
c.10509A>G (p.Gly3503=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572383A>TCA427024561ALMS1c.10125A>T (p.Gly3375=)
c.3211A>T
c.7406A>T
c.4572A>T (p.Gly1524=)
c.7451A>T
c.10506A>T (p.Gly3502=)
c.660A>T (p.Gly220=)
c.1862A>T
c.1603A>T
c.3997A>T (n.3997A>T)
c.10380A>T (p.Gly3460=)
n.4309A>T
c.10509A>T (p.Gly3503=)
2g.73572384A>CCA347283281ALMS1c.10126A>C (p.Lys3376Gln)
c.3212A>C
c.7407A>C
c.4573A>C (p.Lys1525Gln)
c.7452A>C
c.10507A>C (p.Lys3503Gln)
c.661A>C (p.Lys221Gln)
c.1863A>C
c.1604A>C
c.3998A>C (n.3998A>C)
c.10381A>C (p.Lys3461Gln)
n.4310A>C
c.10510A>C (p.Lys3504Gln)
2g.73572384A>GCA347283283ALMS1c.10126A>G (p.Lys3376Glu)
c.3212A>G
c.7407A>G
c.4573A>G (p.Lys1525Glu)
c.7452A>G
c.10507A>G (p.Lys3503Glu)
c.661A>G (p.Lys221Glu)
c.1863A>G
c.1604A>G
c.3998A>G (n.3998A>G)
c.10381A>G (p.Lys3461Glu)
n.4310A>G
c.10510A>G (p.Lys3504Glu)
 gnomAD v4
2g.73572384A>TCA347283285ALMS1c.10126A>T (p.Lys3376Ter)
c.3212A>T
c.7407A>T
c.4573A>T (p.Lys1525Ter)
c.7452A>T
c.10507A>T (p.Lys3503Ter)
c.661A>T (p.Lys221Ter)
c.1863A>T
c.1604A>T
c.3998A>T (n.3998A>T)
c.10381A>T (p.Lys3461Ter)
n.4310A>T
c.10510A>T (p.Lys3504Ter)
2g.73572385A=CA1261021024ALMS1c.10127A= (p.Lys3376=)
c.3213A=
c.7408A=
c.4574A= (p.Lys1525=)
c.7453A=
c.10508A= (p.Lys3503=)
c.662A= (p.Lys221=)
c.1864A=
c.1605A=
c.3999A= (n.3999A=)
c.10382A= (p.Lys3461=)
n.4311A=
c.10511A= (p.Lys3504=)
2g.73572385A>CCA347283288ALMS1c.10127A>C (p.Lys3376Thr)
c.3213A>C
c.7408A>C
c.4574A>C (p.Lys1525Thr)
c.7453A>C
c.10508A>C (p.Lys3503Thr)
c.662A>C (p.Lys221Thr)
c.1864A>C
c.1605A>C
c.3999A>C (n.3999A>C)
c.10382A>C (p.Lys3461Thr)
n.4311A>C
c.10511A>C (p.Lys3504Thr)
2g.73572385A>GCA50386217ALMS1c.10127A>G (p.Lys3376Arg)
c.3213A>G
c.7408A>G
c.4574A>G (p.Lys1525Arg)
c.7453A>G
c.10508A>G (p.Lys3503Arg)
c.662A>G (p.Lys221Arg)
c.1864A>G
c.1605A>G
c.3999A>G (n.3999A>G)
c.10382A>G (p.Lys3461Arg)
n.4311A>G
c.10511A>G (p.Lys3504Arg)
 dbSNP
2g.73572385A>TCA347283293ALMS1c.10127A>T (p.Lys3376Met)
c.3213A>T
c.7408A>T
c.4574A>T (p.Lys1525Met)
c.7453A>T
c.10508A>T (p.Lys3503Met)
c.662A>T (p.Lys221Met)
c.1864A>T
c.1605A>T
c.3999A>T (n.3999A>T)
c.10382A>T (p.Lys3461Met)
n.4311A>T
c.10511A>T (p.Lys3504Met)
2g.73572386G>ACA427024572ALMS1c.10128G>A (p.Lys3376=)
c.3214G>A
c.7409G>A
c.4575G>A (p.Lys1525=)
c.7454G>A
c.10509G>A (p.Lys3503=)
c.663G>A (p.Lys221=)
c.1865G>A
c.1606G>A
c.4000G>A (n.4000G>A)
c.10383G>A (p.Lys3461=)
n.4312G>A
c.10512G>A (p.Lys3504=)
2g.73572386G>CCA347283296ALMS1c.10128G>C (p.Lys3376Asn)
c.3214G>C
c.7409G>C
c.4575G>C (p.Lys1525Asn)
c.7454G>C
c.10509G>C (p.Lys3503Asn)
c.663G>C (p.Lys221Asn)
c.1865G>C
c.1606G>C
c.4000G>C (n.4000G>C)
c.10383G>C (p.Lys3461Asn)
n.4312G>C
c.10512G>C (p.Lys3504Asn)
2g.73572386G>TCA347283298ALMS1c.10128G>T (p.Lys3376Asn)
c.3214G>T
c.7409G>T
c.4575G>T (p.Lys1525Asn)
c.7454G>T
c.10509G>T (p.Lys3503Asn)
c.663G>T (p.Lys221Asn)
c.1865G>T
c.1606G>T
c.4000G>T (n.4000G>T)
c.10383G>T (p.Lys3461Asn)
n.4312G>T
c.10512G>T (p.Lys3504Asn)
2g.73572387A=CA1261021028ALMS1c.10129A= (p.Ser3377=)
c.3215A=
c.7410A=
c.4576A= (p.Ser1526=)
c.7455A=
c.10510A= (p.Ser3504=)
c.664A= (p.Ser222=)
c.1866A=
c.1607A=
c.4001A= (n.4001A=)
c.10384A= (p.Ser3462=)
n.4313A=
c.10513A= (p.Ser3505=)
2g.73572387A>CCA347283302ALMS1c.10129A>C (p.Ser3377Arg)
c.3215A>C
c.7410A>C
c.4576A>C (p.Ser1526Arg)
c.7455A>C
c.10510A>C (p.Ser3504Arg)
c.664A>C (p.Ser222Arg)
c.1866A>C
c.1607A>C
c.4001A>C (n.4001A>C)
c.10384A>C (p.Ser3462Arg)
n.4313A>C
c.10513A>C (p.Ser3505Arg)
2g.73572387A>GCA347283304ALMS1c.10129A>G (p.Ser3377Gly)
c.3215A>G
c.7410A>G
c.4576A>G (p.Ser1526Gly)
c.7455A>G
c.10510A>G (p.Ser3504Gly)
c.664A>G (p.Ser222Gly)
c.1866A>G
c.1607A>G
c.4001A>G (n.4001A>G)
c.10384A>G (p.Ser3462Gly)
n.4313A>G
c.10513A>G (p.Ser3505Gly)
 ClinVar dbSNP
2g.73572387A>TCA50386218ALMS1c.10129A>T (p.Ser3377Cys)
c.3215A>T
c.7410A>T
c.4576A>T (p.Ser1526Cys)
c.7455A>T
c.10510A>T (p.Ser3504Cys)
c.664A>T (p.Ser222Cys)
c.1866A>T
c.1607A>T
c.4001A>T (n.4001A>T)
c.10384A>T (p.Ser3462Cys)
n.4313A>T
c.10513A>T (p.Ser3505Cys)
 dbSNP
2g.73572388G>ACA347283306ALMS1c.10130G>A (p.Ser3377Asn)
c.3216G>A
c.7411G>A
c.4577G>A (p.Ser1526Asn)
c.7456G>A
c.10511G>A (p.Ser3504Asn)
c.665G>A (p.Ser222Asn)
c.1867G>A
c.1608G>A
c.4002G>A (n.4002G>A)
c.10385G>A (p.Ser3462Asn)
n.4314G>A
c.10514G>A (p.Ser3505Asn)
 ClinVar dbSNP gnomAD v4
2g.73572388G>CCA347283309ALMS1c.10130G>C (p.Ser3377Thr)
c.3216G>C
c.7411G>C
c.4577G>C (p.Ser1526Thr)
c.7456G>C
c.10511G>C (p.Ser3504Thr)
c.665G>C (p.Ser222Thr)
c.1867G>C
c.1608G>C
c.4002G>C (n.4002G>C)
c.10385G>C (p.Ser3462Thr)
n.4314G>C
c.10514G>C (p.Ser3505Thr)
2g.73572388G=CA1261021030ALMS1c.10130G= (p.Ser3377=)
c.3216G=
c.7411G=
c.4577G= (p.Ser1526=)
c.7456G=
c.10511G= (p.Ser3504=)
c.665G= (p.Ser222=)
c.1867G=
c.1608G=
c.4002G= (n.4002G=)
c.10385G= (p.Ser3462=)
n.4314G=
c.10514G= (p.Ser3505=)
2g.73572388G>TCA347283311ALMS1c.10130G>T (p.Ser3377Ile)
c.3216G>T
c.7411G>T
c.4577G>T (p.Ser1526Ile)
c.7456G>T
c.10511G>T (p.Ser3504Ile)
c.665G>T (p.Ser222Ile)
c.1867G>T
c.1608G>T
c.4002G>T (n.4002G>T)
c.10385G>T (p.Ser3462Ile)
n.4314G>T
c.10514G>T (p.Ser3505Ile)
2g.73572389T>ACA347283315ALMS1c.10131T>A (p.Ser3377Arg)
c.3217T>A
c.7412T>A
c.4578T>A (p.Ser1526Arg)
c.7457T>A
c.10512T>A (p.Ser3504Arg)
c.666T>A (p.Ser222Arg)
c.1868T>A
c.1609T>A
c.4003T>A (n.4003T>A)
c.10386T>A (p.Ser3462Arg)
n.4315T>A
c.10515T>A (p.Ser3505Arg)
2g.73572389T>CCA427024582ALMS1c.10131T>C (p.Ser3377=)
c.3217T>C
c.7412T>C
c.4578T>C (p.Ser1526=)
c.7457T>C
c.10512T>C (p.Ser3504=)
c.666T>C (p.Ser222=)
c.1868T>C
c.1609T>C
c.4003T>C (n.4003T>C)
c.10386T>C (p.Ser3462=)
n.4315T>C
c.10515T>C (p.Ser3505=)
2g.73572389T>GCA50386219ALMS1c.10131T>G (p.Ser3377Arg)
c.3217T>G
c.7412T>G
c.4578T>G (p.Ser1526Arg)
c.7457T>G
c.10512T>G (p.Ser3504Arg)
c.666T>G (p.Ser222Arg)
c.1868T>G
c.1609T>G
c.4003T>G (n.4003T>G)
c.10386T>G (p.Ser3462Arg)
n.4315T>G
c.10515T>G (p.Ser3505Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.73572389T=CA1261021032ALMS1c.10131T= (p.Ser3377=)
c.3217T=
c.7412T=
c.4578T= (p.Ser1526=)
c.7457T=
c.10512T= (p.Ser3504=)
c.666T= (p.Ser222=)
c.1868T=
c.1609T=
c.4003T= (n.4003T=)
c.10386T= (p.Ser3462=)
n.4315T=
c.10515T= (p.Ser3505=)
2g.73572390G>ACA347283321ALMS1c.10132G>A (p.Val3378Ile)
c.3218G>A
c.7413G>A
c.4579G>A (p.Val1527Ile)
c.7458G>A
c.10513G>A (p.Val3505Ile)
c.667G>A (p.Val223Ile)
c.1869G>A
c.1610G>A
c.4004G>A (n.4004G>A)
c.10387G>A (p.Val3463Ile)
n.4316G>A
c.10516G>A (p.Val3506Ile)
2g.73572390G>CCA347283324ALMS1c.10132G>C (p.Val3378Leu)
c.3218G>C
c.7413G>C
c.4579G>C (p.Val1527Leu)
c.7458G>C
c.10513G>C (p.Val3505Leu)
c.667G>C (p.Val223Leu)
c.1869G>C
c.1610G>C
c.4004G>C (n.4004G>C)
c.10387G>C (p.Val3463Leu)
n.4316G>C
c.10516G>C (p.Val3506Leu)
2g.73572390G>TCA347283326ALMS1c.10132G>T (p.Val3378Phe)
c.3218G>T
c.7413G>T
c.4579G>T (p.Val1527Phe)
c.7458G>T
c.10513G>T (p.Val3505Phe)
c.667G>T (p.Val223Phe)
c.1869G>T
c.1610G>T
c.4004G>T (n.4004G>T)
c.10387G>T (p.Val3463Phe)
n.4316G>T
c.10516G>T (p.Val3506Phe)
2g.73572391T>ACA347283329ALMS1c.10133T>A (p.Val3378Asp)
c.3219T>A
c.7414T>A
c.4580T>A (p.Val1527Asp)
c.7459T>A
c.10514T>A (p.Val3505Asp)
c.668T>A (p.Val223Asp)
c.1870T>A
c.1611T>A
c.4005T>A (n.4005T>A)
c.10388T>A (p.Val3463Asp)
n.4317T>A
c.10517T>A (p.Val3506Asp)
2g.73572391T>CCA347283331ALMS1c.10133T>C (p.Val3378Ala)
c.3219T>C
c.7414T>C
c.4580T>C (p.Val1527Ala)
c.7459T>C
c.10514T>C (p.Val3505Ala)
c.668T>C (p.Val223Ala)
c.1870T>C
c.1611T>C
c.4005T>C (n.4005T>C)
c.10388T>C (p.Val3463Ala)
n.4317T>C
c.10517T>C (p.Val3506Ala)
2g.73572391T>GCA347283333ALMS1c.10133T>G (p.Val3378Gly)
c.3219T>G
c.7414T>G
c.4580T>G (p.Val1527Gly)
c.7459T>G
c.10514T>G (p.Val3505Gly)
c.668T>G (p.Val223Gly)
c.1870T>G
c.1611T>G
c.4005T>G (n.4005T>G)
c.10388T>G (p.Val3463Gly)
n.4317T>G
c.10517T>G (p.Val3506Gly)
2g.73572392T>ACA427024594ALMS1c.10134T>A (p.Val3378=)
c.3220T>A
c.7415T>A
c.4581T>A (p.Val1527=)
c.7460T>A
c.10515T>A (p.Val3505=)
c.669T>A (p.Val223=)
c.1871T>A
c.1612T>A
c.4006T>A (n.4006T>A)
c.10389T>A (p.Val3463=)
n.4318T>A
c.10518T>A (p.Val3506=)
2g.73572392T>CCA427024598ALMS1c.10134T>C (p.Val3378=)
c.3220T>C
c.7415T>C
c.4581T>C (p.Val1527=)
c.7460T>C
c.10515T>C (p.Val3505=)
c.669T>C (p.Val223=)
c.1871T>C
c.1612T>C
c.4006T>C (n.4006T>C)
c.10389T>C (p.Val3463=)
n.4318T>C
c.10518T>C (p.Val3506=)
2g.73572392T>GCA427024600ALMS1c.10134T>G (p.Val3378=)
c.3220T>G
c.7415T>G
c.4581T>G (p.Val1527=)
c.7460T>G
c.10515T>G (p.Val3505=)
c.669T>G (p.Val223=)
c.1871T>G
c.1612T>G
c.4006T>G (n.4006T>G)
c.10389T>G (p.Val3463=)
n.4318T>G
c.10518T>G (p.Val3506=)
2g.73572393T>ACA347283339ALMS1c.10135T>A (p.Phe3379Ile)
c.3221T>A
c.7416T>A
c.4582T>A (p.Phe1528Ile)
c.7461T>A
c.10516T>A (p.Phe3506Ile)
c.670T>A (p.Phe224Ile)
c.1872T>A
c.1613T>A
c.4007T>A (n.4007T>A)
c.10390T>A (p.Phe3464Ile)
n.4319T>A
c.10519T>A (p.Phe3507Ile)
2g.73572393T>CCA347283342ALMS1c.10135T>C (p.Phe3379Leu)
c.3221T>C
c.7416T>C
c.4582T>C (p.Phe1528Leu)
c.7461T>C
c.10516T>C (p.Phe3506Leu)
c.670T>C (p.Phe224Leu)
c.1872T>C
c.1613T>C
c.4007T>C (n.4007T>C)
c.10390T>C (p.Phe3464Leu)
n.4319T>C
c.10519T>C (p.Phe3507Leu)
2g.73572393T>GCA347283337ALMS1c.10135T>G (p.Phe3379Val)
c.3221T>G
c.7416T>G
c.4582T>G (p.Phe1528Val)
c.7461T>G
c.10516T>G (p.Phe3506Val)
c.670T>G (p.Phe224Val)
c.1872T>G
c.1613T>G
c.4007T>G (n.4007T>G)
c.10390T>G (p.Phe3464Val)
n.4319T>G
c.10519T>G (p.Phe3507Val)
2g.73572394T>ACA347283346ALMS1c.10136T>A (p.Phe3379Tyr)
c.3222T>A
c.7417T>A
c.4583T>A (p.Phe1528Tyr)
c.7462T>A
c.10517T>A (p.Phe3506Tyr)
c.671T>A (p.Phe224Tyr)
c.1873T>A
c.1614T>A
c.4008T>A (n.4008T>A)
c.10391T>A (p.Phe3464Tyr)
n.4320T>A
c.10520T>A (p.Phe3507Tyr)
2g.73572394T>CCA347283347ALMS1c.10136T>C (p.Phe3379Ser)
c.3222T>C
c.7417T>C
c.4583T>C (p.Phe1528Ser)
c.7462T>C
c.10517T>C (p.Phe3506Ser)
c.671T>C (p.Phe224Ser)
c.1873T>C
c.1614T>C
c.4008T>C (n.4008T>C)
c.10391T>C (p.Phe3464Ser)
n.4320T>C
c.10520T>C (p.Phe3507Ser)
2g.73572394T>GCA347283348ALMS1c.10136T>G (p.Phe3379Cys)
c.3222T>G
c.7417T>G
c.4583T>G (p.Phe1528Cys)
c.7462T>G
c.10517T>G (p.Phe3506Cys)
c.671T>G (p.Phe224Cys)
c.1873T>G
c.1614T>G
c.4008T>G (n.4008T>G)
c.10391T>G (p.Phe3464Cys)
n.4320T>G
c.10520T>G (p.Phe3507Cys)
2g.73572395C>ACA347283350ALMS1c.10137C>A (p.Phe3379Leu)
c.3223C>A
c.7418C>A
c.4584C>A (p.Phe1528Leu)
c.7463C>A
c.10518C>A (p.Phe3506Leu)
c.672C>A (p.Phe224Leu)
c.1874C>A
c.1615C>A
c.4009C>A (n.4009C>A)
c.10392C>A (p.Phe3464Leu)
n.4321C>A
c.10521C>A (p.Phe3507Leu)
2g.73572395C>GCA347283353ALMS1c.10137C>G (p.Phe3379Leu)
c.3223C>G
c.7418C>G
c.4584C>G (p.Phe1528Leu)
c.7463C>G
c.10518C>G (p.Phe3506Leu)
c.672C>G (p.Phe224Leu)
c.1874C>G
c.1615C>G
c.4009C>G (n.4009C>G)
c.10392C>G (p.Phe3464Leu)
n.4321C>G
c.10521C>G (p.Phe3507Leu)
2g.73572395C>TCA427024607ALMS1c.10137C>T (p.Phe3379=)
c.3223C>T
c.7418C>T
c.4584C>T (p.Phe1528=)
c.7463C>T
c.10518C>T (p.Phe3506=)
c.672C>T (p.Phe224=)
c.1874C>T
c.1615C>T
c.4009C>T (n.4009C>T)
c.10392C>T (p.Phe3464=)
n.4321C>T
c.10521C>T (p.Phe3507=)
2g.73572396A=CA1261021035ALMS1c.10138A= (p.Met3380=)
c.3224A=
c.7419A=
c.4585A= (p.Met1529=)
c.7464A=
c.10519A= (p.Met3507=)
c.673A= (p.Met225=)
c.1875A=
c.1616A=
c.4010A= (n.4010A=)
c.10393A= (p.Met3465=)
n.4322A=
c.10522A= (p.Met3508=)
2g.73572396A>CCA347283360ALMS1c.10138A>C (p.Met3380Leu)
c.3224A>C
c.7419A>C
c.4585A>C (p.Met1529Leu)
c.7464A>C
c.10519A>C (p.Met3507Leu)
c.673A>C (p.Met225Leu)
c.1875A>C
c.1616A>C
c.4010A>C (n.4010A>C)
c.10393A>C (p.Met3465Leu)
n.4322A>C
c.10522A>C (p.Met3508Leu)
 gnomAD v4
2g.73572396A>GCA347283356ALMS1c.10138A>G (p.Met3380Val)
c.3224A>G
c.7419A>G
c.4585A>G (p.Met1529Val)
c.7464A>G
c.10519A>G (p.Met3507Val)
c.673A>G (p.Met225Val)
c.1875A>G
c.1616A>G
c.4010A>G (n.4010A>G)
c.10393A>G (p.Met3465Val)
n.4322A>G
c.10522A>G (p.Met3508Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572396A>TCA347283358ALMS1c.10138A>T (p.Met3380Leu)
c.3224A>T
c.7419A>T
c.4585A>T (p.Met1529Leu)
c.7464A>T
c.10519A>T (p.Met3507Leu)
c.673A>T (p.Met225Leu)
c.1875A>T
c.1616A>T
c.4010A>T (n.4010A>T)
c.10393A>T (p.Met3465Leu)
n.4322A>T
c.10522A>T (p.Met3508Leu)
 gnomAD v4
2g.73572397T>ACA347283364ALMS1c.10139T>A (p.Met3380Lys)
c.3225T>A
c.7420T>A
c.4586T>A (p.Met1529Lys)
c.7465T>A
c.10520T>A (p.Met3507Lys)
c.674T>A (p.Met225Lys)
c.1876T>A
c.1617T>A
c.4011T>A (n.4011T>A)
c.10394T>A (p.Met3465Lys)
n.4323T>A
c.10523T>A (p.Met3508Lys)
2g.73572397T>CCA347283365ALMS1c.10139T>C (p.Met3380Thr)
c.3225T>C
c.7420T>C
c.4586T>C (p.Met1529Thr)
c.7465T>C
c.10520T>C (p.Met3507Thr)
c.674T>C (p.Met225Thr)
c.1876T>C
c.1617T>C
c.4011T>C (n.4011T>C)
c.10394T>C (p.Met3465Thr)
n.4323T>C
c.10523T>C (p.Met3508Thr)
2g.73572397T>GCA347283367ALMS1c.10139T>G (p.Met3380Arg)
c.3225T>G
c.7420T>G
c.4586T>G (p.Met1529Arg)
c.7465T>G
c.10520T>G (p.Met3507Arg)
c.674T>G (p.Met225Arg)
c.1876T>G
c.1617T>G
c.4011T>G (n.4011T>G)
c.10394T>G (p.Met3465Arg)
n.4323T>G
c.10523T>G (p.Met3508Arg)
2g.73572398G>ACA347283371ALMS1c.10140G>A (p.Met3380Ile)
c.3226G>A
c.7421G>A
c.4587G>A (p.Met1529Ile)
c.7466G>A
c.10521G>A (p.Met3507Ile)
c.675G>A (p.Met225Ile)
c.1877G>A
c.1618G>A
c.4012G>A (n.4012G>A)
c.10395G>A (p.Met3465Ile)
n.4324G>A
c.10524G>A (p.Met3508Ile)
2g.73572398G>CCA347283373ALMS1c.10140G>C (p.Met3380Ile)
c.3226G>C
c.7421G>C
c.4587G>C (p.Met1529Ile)
c.7466G>C
c.10521G>C (p.Met3507Ile)
c.675G>C (p.Met225Ile)
c.1877G>C
c.1618G>C
c.4012G>C (n.4012G>C)
c.10395G>C (p.Met3465Ile)
n.4324G>C
c.10524G>C (p.Met3508Ile)
2g.73572398G>TCA347283375ALMS1c.10140G>T (p.Met3380Ile)
c.3226G>T
c.7421G>T
c.4587G>T (p.Met1529Ile)
c.7466G>T
c.10521G>T (p.Met3507Ile)
c.675G>T (p.Met225Ile)
c.1877G>T
c.1618G>T
c.4012G>T (n.4012G>T)
c.10395G>T (p.Met3465Ile)
n.4324G>T
c.10524G>T (p.Met3508Ile)
2g.73572399A=CA1261021039ALMS1c.10141A= (p.Arg3381=)
c.3227A=
c.7422A=
c.4588A= (p.Arg1530=)
c.7467A=
c.10522A= (p.Arg3508=)
c.676A= (p.Arg226=)
c.1878A=
c.1619A=
c.4013A= (n.4013A=)
c.10396A= (p.Arg3466=)
n.4325A=
c.10525A= (p.Arg3509=)
2g.73572399A>CCA427024612ALMS1c.10141A>C (p.Arg3381=)
c.3227A>C
c.7422A>C
c.4588A>C (p.Arg1530=)
c.7467A>C
c.10522A>C (p.Arg3508=)
c.676A>C (p.Arg226=)
c.1878A>C
c.1619A>C
c.4013A>C (n.4013A>C)
c.10396A>C (p.Arg3466=)
n.4325A>C
c.10525A>C (p.Arg3509=)
2g.73572399A>GCA347283381ALMS1c.10141A>G (p.Arg3381Gly)
c.3227A>G
c.7422A>G
c.4588A>G (p.Arg1530Gly)
c.7467A>G
c.10522A>G (p.Arg3508Gly)
c.676A>G (p.Arg226Gly)
c.1878A>G
c.1619A>G
c.4013A>G (n.4013A>G)
c.10396A>G (p.Arg3466Gly)
n.4325A>G
c.10525A>G (p.Arg3509Gly)
 dbSNP gnomAD v2
2g.73572399A>TCA347283379ALMS1c.10141A>T (p.Arg3381Ter)
c.3227A>T
c.7422A>T
c.4588A>T (p.Arg1530Ter)
c.7467A>T
c.10522A>T (p.Arg3508Ter)
c.676A>T (p.Arg226Ter)
c.1878A>T
c.1619A>T
c.4013A>T (n.4013A>T)
c.10396A>T (p.Arg3466Ter)
n.4325A>T
c.10525A>T (p.Arg3509Ter)
2g.73572400G>ACA347283384ALMS1c.10142G>A (p.Arg3381Lys)
c.3228G>A
c.7423G>A
c.4589G>A (p.Arg1530Lys)
c.7468G>A
c.10523G>A (p.Arg3508Lys)
c.677G>A (p.Arg226Lys)
c.1879G>A
c.1620G>A
c.4014G>A (n.4014G>A)
c.10397G>A (p.Arg3466Lys)
n.4326G>A
c.10526G>A (p.Arg3509Lys)
2g.73572400G>CCA347283388ALMS1c.10142G>C (p.Arg3381Thr)
c.3228G>C
c.7423G>C
c.4589G>C (p.Arg1530Thr)
c.7468G>C
c.10523G>C (p.Arg3508Thr)
c.677G>C (p.Arg226Thr)
c.1879G>C
c.1620G>C
c.4014G>C (n.4014G>C)
c.10397G>C (p.Arg3466Thr)
n.4326G>C
c.10526G>C (p.Arg3509Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.73572400G=CA1261021043ALMS1c.10142G= (p.Arg3381=)
c.3228G=
c.7423G=
c.4589G= (p.Arg1530=)
c.7468G=
c.10523G= (p.Arg3508=)
c.677G= (p.Arg226=)
c.1879G=
c.1620G=
c.4014G= (n.4014G=)
c.10397G= (p.Arg3466=)
n.4326G=
c.10526G= (p.Arg3509=)
2g.73572400G>TCA347283385ALMS1c.10142G>T (p.Arg3381Ile)
c.3228G>T
c.7423G>T
c.4589G>T (p.Arg1530Ile)
c.7468G>T
c.10523G>T (p.Arg3508Ile)
c.677G>T (p.Arg226Ile)
c.1879G>T
c.1620G>T
c.4014G>T (n.4014G>T)
c.10397G>T (p.Arg3466Ile)
n.4326G>T
c.10526G>T (p.Arg3509Ile)
2g.73572401A>CCA347283392ALMS1c.10143A>C (p.Arg3381Ser)
c.3229A>C
c.7424A>C
c.4590A>C (p.Arg1530Ser)
c.7469A>C
c.10524A>C (p.Arg3508Ser)
c.678A>C (p.Arg226Ser)
c.1880A>C
c.1621A>C
c.4015A>C (n.4015A>C)
c.10398A>C (p.Arg3466Ser)
n.4327A>C
c.10527A>C (p.Arg3509Ser)
2g.73572401A>GCA427024617ALMS1c.10143A>G (p.Arg3381=)
c.3229A>G
c.7424A>G
c.4590A>G (p.Arg1530=)
c.7469A>G
c.10524A>G (p.Arg3508=)
c.678A>G (p.Arg226=)
c.1880A>G
c.1621A>G
c.4015A>G (n.4015A>G)
c.10398A>G (p.Arg3466=)
n.4327A>G
c.10527A>G (p.Arg3509=)
2g.73572401A>TCA347283394ALMS1c.10143A>T (p.Arg3381Ser)
c.3229A>T
c.7424A>T
c.4590A>T (p.Arg1530Ser)
c.7469A>T
c.10524A>T (p.Arg3508Ser)
c.678A>T (p.Arg226Ser)
c.1880A>T
c.1621A>T
c.4015A>T (n.4015A>T)
c.10398A>T (p.Arg3466Ser)
n.4327A>T
c.10527A>T (p.Arg3509Ser)
2g.73572402C>ACA347283398ALMS1c.10144C>A (p.His3382Asn)
c.3230C>A
c.7425C>A
c.4591C>A (p.His1531Asn)
c.7470C>A
c.10525C>A (p.His3509Asn)
c.679C>A (p.His227Asn)
c.1881C>A
c.1622C>A
c.4016C>A (n.4016C>A)
c.10399C>A (p.His3467Asn)
n.4328C>A
c.10528C>A (p.His3510Asn)
2g.73572402C>GCA347283401ALMS1c.10144C>G (p.His3382Asp)
c.3230C>G
c.7425C>G
c.4591C>G (p.His1531Asp)
c.7470C>G
c.10525C>G (p.His3509Asp)
c.679C>G (p.His227Asp)
c.1881C>G
c.1622C>G
c.4016C>G (n.4016C>G)
c.10399C>G (p.His3467Asp)
n.4328C>G
c.10528C>G (p.His3510Asp)
2g.73572402C>TCA347283403ALMS1c.10144C>T (p.His3382Tyr)
c.3230C>T
c.7425C>T
c.4591C>T (p.His1531Tyr)
c.7470C>T
c.10525C>T (p.His3509Tyr)
c.679C>T (p.His227Tyr)
c.1881C>T
c.1622C>T
c.4016C>T (n.4016C>T)
c.10399C>T (p.His3467Tyr)
n.4328C>T
c.10528C>T (p.His3510Tyr)
2g.73572403A=CA1261021048ALMS1c.10145A= (p.His3382=)
c.3231A=
c.7426A=
c.4592A= (p.His1531=)
c.7471A=
c.10526A= (p.His3509=)
c.680A= (p.His227=)
c.1882A=
c.1623A=
c.4017A= (n.4017A=)
c.10400A= (p.His3467=)
n.4329A=
c.10529A= (p.His3510=)
2g.73572403A>CCA347283407ALMS1c.10145A>C (p.His3382Pro)
c.3231A>C
c.7426A>C
c.4592A>C (p.His1531Pro)
c.7471A>C
c.10526A>C (p.His3509Pro)
c.680A>C (p.His227Pro)
c.1882A>C
c.1623A>C
c.4017A>C (n.4017A>C)
c.10400A>C (p.His3467Pro)
n.4329A>C
c.10529A>C (p.His3510Pro)
2g.73572403A>GCA347283409ALMS1c.10145A>G (p.His3382Arg)
c.3231A>G
c.7426A>G
c.4592A>G (p.His1531Arg)
c.7471A>G
c.10526A>G (p.His3509Arg)
c.680A>G (p.His227Arg)
c.1882A>G
c.1623A>G
c.4017A>G (n.4017A>G)
c.10400A>G (p.His3467Arg)
n.4329A>G
c.10529A>G (p.His3510Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572403A>TCA347283412ALMS1c.10145A>T (p.His3382Leu)
c.3231A>T
c.7426A>T
c.4592A>T (p.His1531Leu)
c.7471A>T
c.10526A>T (p.His3509Leu)
c.680A>T (p.His227Leu)
c.1882A>T
c.1623A>T
c.4017A>T (n.4017A>T)
c.10400A>T (p.His3467Leu)
n.4329A>T
c.10529A>T (p.His3510Leu)
2g.73572404T>ACA347283415ALMS1c.10146T>A (p.His3382Gln)
c.3232T>A
c.7427T>A
c.4593T>A (p.His1531Gln)
c.7472T>A
c.10527T>A (p.His3509Gln)
c.681T>A (p.His227Gln)
c.1883T>A
c.1624T>A
c.4018T>A (n.4018T>A)
c.10401T>A (p.His3467Gln)
n.4330T>A
c.10530T>A (p.His3510Gln)
2g.73572404T>CCA427024628ALMS1c.10146T>C (p.His3382=)
c.3232T>C
c.7427T>C
c.4593T>C (p.His1531=)
c.7472T>C
c.10527T>C (p.His3509=)
c.681T>C (p.His227=)
c.1883T>C
c.1624T>C
c.4018T>C (n.4018T>C)
c.10401T>C (p.His3467=)
n.4330T>C
c.10530T>C (p.His3510=)
 gnomAD v4
2g.73572404T>GCA347283417ALMS1c.10146T>G (p.His3382Gln)
c.3232T>G
c.7427T>G
c.4593T>G (p.His1531Gln)
c.7472T>G
c.10527T>G (p.His3509Gln)
c.681T>G (p.His227Gln)
c.1883T>G
c.1624T>G
c.4018T>G (n.4018T>G)
c.10401T>G (p.His3467Gln)
n.4330T>G
c.10530T>G (p.His3510Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572404T=CA1261021058ALMS1c.10146T= (p.His3382=)
c.3232T=
c.7427T=
c.4593T= (p.His1531=)
c.7472T=
c.10527T= (p.His3509=)
c.681T= (p.His227=)
c.1883T=
c.1624T=
c.4018T= (n.4018T=)
c.10401T= (p.His3467=)
n.4330T=
c.10530T= (p.His3510=)
2g.73572405dupCA892825667ALMS1c.10147dup (p.Ser3383PhefsTer14)
c.3233dup
c.7428dup
c.4594dup (p.Ser1532PhefsTer14)
c.7473dup
c.10528dup (p.Ser3510PhefsTer14)
c.682dup (p.Ser228PhefsTer14)
c.1884dup
c.1625dup
c.4019dup (n.4019dup)
c.10402dup (p.Ser3468PhefsTer14)
n.4331dup
c.10531dup (p.Ser3511PhefsTer14)
 dbSNP
2g.73572405T>ACA347283424ALMS1c.10147T>A (p.Ser3383Thr)
c.3233T>A
c.7428T>A
c.4594T>A (p.Ser1532Thr)
c.7473T>A
c.10528T>A (p.Ser3510Thr)
c.682T>A (p.Ser228Thr)
c.1884T>A
c.1625T>A
c.4019T>A (n.4019T>A)
c.10402T>A (p.Ser3468Thr)
n.4331T>A
c.10531T>A (p.Ser3511Thr)
2g.73572405T>CCA347283422ALMS1c.10147T>C (p.Ser3383Pro)
c.3233T>C
c.7428T>C
c.4594T>C (p.Ser1532Pro)
c.7473T>C
c.10528T>C (p.Ser3510Pro)
c.682T>C (p.Ser228Pro)
c.1884T>C
c.1625T>C
c.4019T>C (n.4019T>C)
c.10402T>C (p.Ser3468Pro)
n.4331T>C
c.10531T>C (p.Ser3511Pro)
2g.73572405T>GCA347283420ALMS1c.10147T>G (p.Ser3383Ala)
c.3233T>G
c.7428T>G
c.4594T>G (p.Ser1532Ala)
c.7473T>G
c.10528T>G (p.Ser3510Ala)
c.682T>G (p.Ser228Ala)
c.1884T>G
c.1625T>G
c.4019T>G (n.4019T>G)
c.10402T>G (p.Ser3468Ala)
n.4331T>G
c.10531T>G (p.Ser3511Ala)
2g.73572406C>ACA347283426ALMS1c.10148C>A (p.Ser3383Tyr)
c.3234C>A
c.7429C>A
c.4595C>A (p.Ser1532Tyr)
c.7474C>A
c.10529C>A (p.Ser3510Tyr)
c.683C>A (p.Ser228Tyr)
c.1885C>A
c.1626C>A
c.4020C>A (n.4020C>A)
c.10403C>A (p.Ser3468Tyr)
n.4332C>A
c.10532C>A (p.Ser3511Tyr)
2g.73572406C=CA1261021065ALMS1c.10148C= (p.Ser3383=)
c.3234C=
c.7429C=
c.4595C= (p.Ser1532=)
c.7474C=
c.10529C= (p.Ser3510=)
c.683C= (p.Ser228=)
c.1885C=
c.1626C=
c.4020C= (n.4020C=)
c.10403C= (p.Ser3468=)
n.4332C=
c.10532C= (p.Ser3511=)
2g.73572406C>GCA347283428ALMS1c.10148C>G (p.Ser3383Cys)
c.3234C>G
c.7429C>G
c.4595C>G (p.Ser1532Cys)
c.7474C>G
c.10529C>G (p.Ser3510Cys)
c.683C>G (p.Ser228Cys)
c.1885C>G
c.1626C>G
c.4020C>G (n.4020C>G)
c.10403C>G (p.Ser3468Cys)
n.4332C>G
c.10532C>G (p.Ser3511Cys)
2g.73572406C>TCA347283430ALMS1c.10148C>T (p.Ser3383Phe)
c.3234C>T
c.7429C>T
c.4595C>T (p.Ser1532Phe)
c.7474C>T
c.10529C>T (p.Ser3510Phe)
c.683C>T (p.Ser228Phe)
c.1885C>T
c.1626C>T
c.4020C>T (n.4020C>T)
c.10403C>T (p.Ser3468Phe)
n.4332C>T
c.10532C>T (p.Ser3511Phe)
2g.73572407T>ACA427024640ALMS1c.10149T>A (p.Ser3383=)
c.3235T>A
c.7430T>A
c.4596T>A (p.Ser1532=)
c.7475T>A
c.10530T>A (p.Ser3510=)
c.684T>A (p.Ser228=)
c.1886T>A
c.1627T>A
c.4021T>A (n.4021T>A)
c.10404T>A (p.Ser3468=)
n.4333T>A
c.10533T>A (p.Ser3511=)
2g.73572407T>CCA427024636ALMS1c.10149T>C (p.Ser3383=)
c.3235T>C
c.7430T>C
c.4596T>C (p.Ser1532=)
c.7475T>C
c.10530T>C (p.Ser3510=)
c.684T>C (p.Ser228=)
c.1886T>C
c.1627T>C
c.4021T>C (n.4021T>C)
c.10404T>C (p.Ser3468=)
n.4333T>C
c.10533T>C (p.Ser3511=)
2g.73572407T>GCA427024635ALMS1c.10149T>G (p.Ser3383=)
c.3235T>G
c.7430T>G
c.4596T>G (p.Ser1532=)
c.7475T>G
c.10530T>G (p.Ser3510=)
c.684T>G (p.Ser228=)
c.1886T>G
c.1627T>G
c.4021T>G (n.4021T>G)
c.10404T>G (p.Ser3468=)
n.4333T>G
c.10533T>G (p.Ser3511=)
2g.73572407T=CA1261021073ALMS1c.10149T= (p.Ser3383=)
c.3235T=
c.7430T=
c.4596T= (p.Ser1532=)
c.7475T=
c.10530T= (p.Ser3510=)
c.684T= (p.Ser228=)
c.1886T=
c.1627T=
c.4021T= (n.4021T=)
c.10404T= (p.Ser3468=)
n.4333T=
c.10533T= (p.Ser3511=)
2g.73572407_73572408insGGAATGTCTTTCCAAGATTCA2573135801ALMS1c.10149_10150insGGAATGTCTTTCCAAGATT (p.Trp3384GlyfsTer19)
c.3235_3236insGGAATGTCTTTCCAAGATT
c.7430_7431insGGAATGTCTTTCCAAGATT
c.4596_4597insGGAATGTCTTTCCAAGATT (p.Trp1533GlyfsTer19)
c.7475_7476insGGAATGTCTTTCCAAGATT
c.10530_10531insGGAATGTCTTTCCAAGATT (p.Trp3511GlyfsTer19)
c.684_685insGGAATGTCTTTCCAAGATT (p.Trp229GlyfsTer19)
c.1886_1887insGGAATGTCTTTCCAAGATT
c.1627_1628insGGAATGTCTTTCCAAGATT
c.4021_4022insGGAATGTCTTTCCAAGATT (n.4021_4022insGGAATGTCTTTCCAAGATT)
c.10404_10405insGGAATGTCTTTCCAAGATT (p.Trp3469GlyfsTer19)
n.4333_4334insGGAATGTCTTTCCAAGATT
c.10533_10534insGGAATGTCTTTCCAAGATT (p.Trp3512GlyfsTer19)
 ClinVar dbSNP
2g.73572407_73572408insGTCTTTCCAAGATTGGAATCA2695200831ALMS1c.10149_10150insGTCTTTCCAAGATTGGAAT (p.Trp3384ValfsTer19)
c.3235_3236insGTCTTTCCAAGATTGGAAT
c.7430_7431insGTCTTTCCAAGATTGGAAT
c.4596_4597insGTCTTTCCAAGATTGGAAT (p.Trp1533ValfsTer19)
c.7475_7476insGTCTTTCCAAGATTGGAAT
c.10530_10531insGTCTTTCCAAGATTGGAAT (p.Trp3511ValfsTer19)
c.684_685insGTCTTTCCAAGATTGGAAT (p.Trp229ValfsTer19)
c.1886_1887insGTCTTTCCAAGATTGGAAT
c.1627_1628insGTCTTTCCAAGATTGGAAT
c.4021_4022insGTCTTTCCAAGATTGGAAT (n.4021_4022insGTCTTTCCAAGATTGGAAT)
c.10404_10405insGTCTTTCCAAGATTGGAAT (p.Trp3469ValfsTer19)
n.4333_4334insGTCTTTCCAAGATTGGAAT
c.10533_10534insGTCTTTCCAAGATTGGAAT (p.Trp3512ValfsTer19)
 ClinVar
2g.73572412_73572413insTGTCTTTCCAAGATTGGAACA534124637ALMS1c.10154_10155insTGTCTTTCCAAGATTGGAA (p.Lys3385AsnfsTer18)
c.3240_3241insTGTCTTTCCAAGATTGGAA
c.7435_7436insTGTCTTTCCAAGATTGGAA
c.4601_4602insTGTCTTTCCAAGATTGGAA (p.Lys1534AsnfsTer18)
c.7480_7481insTGTCTTTCCAAGATTGGAA
c.10535_10536insTGTCTTTCCAAGATTGGAA (p.Lys3512AsnfsTer18)
c.689_690insTGTCTTTCCAAGATTGGAA (p.Lys230AsnfsTer18)
c.1891_1892insTGTCTTTCCAAGATTGGAA
c.1632_1633insTGTCTTTCCAAGATTGGAA
c.4026_4027insTGTCTTTCCAAGATTGGAA (n.4026_4027insTGTCTTTCCAAGATTGGAA)
c.10409_10410insTGTCTTTCCAAGATTGGAA (p.Lys3470AsnfsTer18)
n.4338_4339insTGTCTTTCCAAGATTGGAA
c.10538_10539insTGTCTTTCCAAGATTGGAA (p.Lys3513AsnfsTer18)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572407_73572408insCCA1261021091ALMS1c.10149_10150insC (p.Trp3384LeufsTer13)
c.3235_3236insC
c.7430_7431insC
c.4596_4597insC (p.Trp1533LeufsTer13)
c.7475_7476insC
c.10530_10531insC (p.Trp3511LeufsTer13)
c.684_685insC (p.Trp229LeufsTer13)
c.1886_1887insC
c.1627_1628insC
c.4021_4022insC (n.4021_4022insC)
c.10404_10405insC (p.Trp3469LeufsTer13)
n.4333_4334insC
c.10533_10534insC (p.Trp3512LeufsTer13)
 dbSNP
2g.73572408T>ACA347283434ALMS1c.10150T>A (p.Trp3384Arg)
c.3236T>A
c.7431T>A
c.4597T>A (p.Trp1533Arg)
c.7476T>A
c.10531T>A (p.Trp3511Arg)
c.685T>A (p.Trp229Arg)
c.1887T>A
c.1628T>A
c.4022T>A (n.4022T>A)
c.10405T>A (p.Trp3469Arg)
n.4334T>A
c.10534T>A (p.Trp3512Arg)
2g.73572408T>CCA347283436ALMS1c.10150T>C (p.Trp3384Arg)
c.3236T>C
c.7431T>C
c.4597T>C (p.Trp1533Arg)
c.7476T>C
c.10531T>C (p.Trp3511Arg)
c.685T>C (p.Trp229Arg)
c.1887T>C
c.1628T>C
c.4022T>C (n.4022T>C)
c.10405T>C (p.Trp3469Arg)
n.4334T>C
c.10534T>C (p.Trp3512Arg)
2g.73572408T>GCA347283438ALMS1c.10150T>G (p.Trp3384Gly)
c.3236T>G
c.7431T>G
c.4597T>G (p.Trp1533Gly)
c.7476T>G
c.10531T>G (p.Trp3511Gly)
c.685T>G (p.Trp229Gly)
c.1887T>G
c.1628T>G
c.4022T>G (n.4022T>G)
c.10405T>G (p.Trp3469Gly)
n.4334T>G
c.10534T>G (p.Trp3512Gly)
2g.73572409G>ACA347283439ALMS1c.10151G>A (p.Trp3384Ter)
c.3237G>A
c.7432G>A
c.4598G>A (p.Trp1533Ter)
c.7477G>A
c.10532G>A (p.Trp3511Ter)
c.686G>A (p.Trp229Ter)
c.1888G>A
c.1629G>A
c.4023G>A (n.4023G>A)
c.10406G>A (p.Trp3469Ter)
n.4335G>A
c.10535G>A (p.Trp3512Ter)
 dbSNP gnomAD v4
2g.73572409G>CCA347283441ALMS1c.10151G>C (p.Trp3384Ser)
c.3237G>C
c.7432G>C
c.4598G>C (p.Trp1533Ser)
c.7477G>C
c.10532G>C (p.Trp3511Ser)
c.686G>C (p.Trp229Ser)
c.1888G>C
c.1629G>C
c.4023G>C (n.4023G>C)
c.10406G>C (p.Trp3469Ser)
n.4335G>C
c.10535G>C (p.Trp3512Ser)
2g.73572409G>TCA347283442ALMS1c.10151G>T (p.Trp3384Leu)
c.3237G>T
c.7432G>T
c.4598G>T (p.Trp1533Leu)
c.7477G>T
c.10532G>T (p.Trp3511Leu)
c.686G>T (p.Trp229Leu)
c.1888G>T
c.1629G>T
c.4023G>T (n.4023G>T)
c.10406G>T (p.Trp3469Leu)
n.4335G>T
c.10535G>T (p.Trp3512Leu)
2g.73572410G>ACA347283444ALMS1c.10152G>A (p.Trp3384Ter)
c.3238G>A
c.7433G>A
c.4599G>A (p.Trp1533Ter)
c.7478G>A
c.10533G>A (p.Trp3511Ter)
c.687G>A (p.Trp229Ter)
c.1889G>A
c.1630G>A
c.4024G>A (n.4024G>A)
c.10407G>A (p.Trp3469Ter)
n.4336G>A
c.10536G>A (p.Trp3512Ter)
2g.73572410G>CCA347283446ALMS1c.10152G>C (p.Trp3384Cys)
c.3238G>C
c.7433G>C
c.4599G>C (p.Trp1533Cys)
c.7478G>C
c.10533G>C (p.Trp3511Cys)
c.687G>C (p.Trp229Cys)
c.1889G>C
c.1630G>C
c.4024G>C (n.4024G>C)
c.10407G>C (p.Trp3469Cys)
n.4336G>C
c.10536G>C (p.Trp3512Cys)
2g.73572410G=CA1261021098ALMS1c.10152G= (p.Trp3384=)
c.3238G=
c.7433G=
c.4599G= (p.Trp1533=)
c.7478G=
c.10533G= (p.Trp3511=)
c.687G= (p.Trp229=)
c.1889G=
c.1630G=
c.4024G= (n.4024G=)
c.10407G= (p.Trp3469=)
n.4336G=
c.10536G= (p.Trp3512=)
2g.73572410G>TCA1715017ALMS1c.10152G>T (p.Trp3384Cys)
c.3238G>T
c.7433G>T
c.4599G>T (p.Trp1533Cys)
c.7478G>T
c.10533G>T (p.Trp3511Cys)
c.687G>T (p.Trp229Cys)
c.1889G>T
c.1630G>T
c.4024G>T (n.4024G>T)
c.10407G>T (p.Trp3469Cys)
n.4336G>T
c.10536G>T (p.Trp3512Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched