Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73489783_73489784delCA913090800ALMS1c.7443_7444del (p.Pro2482LeufsTer?)
c.835_836del
c.4895_4896del
c.1890_1891del (p.Pro631LeufsTer?)
c.7824_7825del (p.Pro2609LeufsTer?)
c.896-29992_896-29991del
c.2655_2656del (p.Pro886LeufsTer?)
c.7698_7699del (p.Pro2567LeufsTer?)
n.1627_1628del
c.7827_7828del (p.Pro2610LeufsTer?)
2g.73489783_73489784delinsACCA1260981158ALMS1c.7443_7444delinsAC (p.Gly2481=)
c.835_836delinsAC
c.4895_4896delinsAC
c.1890_1891delinsAC (p.Gly630=)
c.7824_7825delinsAC (p.Gly2608=)
c.896-29992_896-29991delinsAC
c.2655_2656delinsAC (p.Gly885=)
c.7698_7699delinsAC (p.Gly2566=)
n.1627_1628delinsAC
c.7827_7828delinsAC (p.Gly2609=)
2g.73489784C>ACA347264148ALMS1c.7444C>A (p.Pro2482Thr)
c.836C>A
c.4896C>A
c.1891C>A (p.Pro631Thr)
c.7825C>A (p.Pro2609Thr)
c.896-29991C>A
c.2656C>A (p.Pro886Thr)
c.7699C>A (p.Pro2567Thr)
n.1628C>A
c.7828C>A (p.Pro2610Thr)
 ClinVar dbSNP gnomAD v4
2g.73489784C>GCA347264149ALMS1c.7444C>G (p.Pro2482Ala)
c.836C>G
c.4896C>G
c.1891C>G (p.Pro631Ala)
c.7825C>G (p.Pro2609Ala)
c.896-29991C>G
c.2656C>G (p.Pro886Ala)
c.7699C>G (p.Pro2567Ala)
n.1628C>G
c.7828C>G (p.Pro2610Ala)
 gnomAD v4
2g.73489784C>TCA347264151ALMS1c.7444C>T (p.Pro2482Ser)
c.836C>T
c.4896C>T
c.1891C>T (p.Pro631Ser)
c.7825C>T (p.Pro2609Ser)
c.896-29991C>T
c.2656C>T (p.Pro886Ser)
c.7699C>T (p.Pro2567Ser)
n.1628C>T
c.7828C>T (p.Pro2610Ser)
2g.73489786delCA658821971ALMS1c.7446del (p.Ser2483GlnfsTer3)
c.838del
c.4898del
c.1893del (p.Ser632GlnfsTer3)
c.7827del (p.Ser2610GlnfsTer3)
c.896-29989del
c.2658del (p.Ser887GlnfsTer3)
c.7701del (p.Ser2568GlnfsTer3)
n.1630del
c.7830del (p.Ser2611GlnfsTer3)
 ClinVar dbSNP
2g.73489785C>ACA347264153ALMS1c.7445C>A (p.Pro2482His)
c.837C>A
c.4897C>A
c.1892C>A (p.Pro631His)
c.7826C>A (p.Pro2609His)
c.896-29990C>A
c.2657C>A (p.Pro886His)
c.7700C>A (p.Pro2567His)
n.1629C>A
c.7829C>A (p.Pro2610His)
2g.73489785C>GCA347264154ALMS1c.7445C>G (p.Pro2482Arg)
c.837C>G
c.4897C>G
c.1892C>G (p.Pro631Arg)
c.7826C>G (p.Pro2609Arg)
c.896-29990C>G
c.2657C>G (p.Pro886Arg)
c.7700C>G (p.Pro2567Arg)
n.1629C>G
c.7829C>G (p.Pro2610Arg)
2g.73489785C>TCA347264156ALMS1c.7445C>T (p.Pro2482Leu)
c.837C>T
c.4897C>T
c.1892C>T (p.Pro631Leu)
c.7826C>T (p.Pro2609Leu)
c.896-29990C>T
c.2657C>T (p.Pro886Leu)
c.7700C>T (p.Pro2567Leu)
n.1629C>T
c.7829C>T (p.Pro2610Leu)
2g.73489786C>ACA426765867ALMS1c.7446C>A (p.Pro2482=)
c.838C>A
c.4898C>A
c.1893C>A (p.Pro631=)
c.7827C>A (p.Pro2609=)
c.896-29989C>A
c.2658C>A (p.Pro886=)
c.7701C>A (p.Pro2567=)
n.1630C>A
c.7830C>A (p.Pro2610=)
2g.73489786C>GCA426765868ALMS1c.7446C>G (p.Pro2482=)
c.838C>G
c.4898C>G
c.1893C>G (p.Pro631=)
c.7827C>G (p.Pro2609=)
c.896-29989C>G
c.2658C>G (p.Pro886=)
c.7701C>G (p.Pro2567=)
n.1630C>G
c.7830C>G (p.Pro2610=)
2g.73489786C>TCA426765869ALMS1c.7446C>T (p.Pro2482=)
c.838C>T
c.4898C>T
c.1893C>T (p.Pro631=)
c.7827C>T (p.Pro2609=)
c.896-29989C>T
c.2658C>T (p.Pro886=)
c.7701C>T (p.Pro2567=)
n.1630C>T
c.7830C>T (p.Pro2610=)
2g.73489787T>ACA347264158ALMS1c.7447T>A (p.Ser2483Thr)
c.839T>A
c.4899T>A
c.1894T>A (p.Ser632Thr)
c.7828T>A (p.Ser2610Thr)
c.896-29988T>A
c.2659T>A (p.Ser887Thr)
c.7702T>A (p.Ser2568Thr)
n.1631T>A
c.7831T>A (p.Ser2611Thr)
2g.73489787T>CCA347264159ALMS1c.7447T>C (p.Ser2483Pro)
c.839T>C
c.4899T>C
c.1894T>C (p.Ser632Pro)
c.7828T>C (p.Ser2610Pro)
c.896-29988T>C
c.2659T>C (p.Ser887Pro)
c.7702T>C (p.Ser2568Pro)
n.1631T>C
c.7831T>C (p.Ser2611Pro)
 dbSNP
2g.73489787T>GCA347264161ALMS1c.7447T>G (p.Ser2483Ala)
c.839T>G
c.4899T>G
c.1894T>G (p.Ser632Ala)
c.7828T>G (p.Ser2610Ala)
c.896-29988T>G
c.2659T>G (p.Ser887Ala)
c.7702T>G (p.Ser2568Ala)
n.1631T>G
c.7831T>G (p.Ser2611Ala)
2g.73489787T=CA1260981159ALMS1c.7447T= (p.Ser2483=)
c.839T=
c.4899T=
c.1894T= (p.Ser632=)
c.7828T= (p.Ser2610=)
c.896-29988T=
c.2659T= (p.Ser887=)
c.7702T= (p.Ser2568=)
n.1631T=
c.7831T= (p.Ser2611=)
2g.73489788C>ACA347264164ALMS1c.7448C>A (p.Ser2483Ter)
c.840C>A
c.4900C>A
c.1895C>A (p.Ser632Ter)
c.7829C>A (p.Ser2610Ter)
c.896-29987C>A
c.2660C>A (p.Ser887Ter)
c.7703C>A (p.Ser2568Ter)
n.1632C>A
c.7832C>A (p.Ser2611Ter)
2g.73489788C>GCA347264166ALMS1c.7448C>G (p.Ser2483Ter)
c.840C>G
c.4900C>G
c.1895C>G (p.Ser632Ter)
c.7829C>G (p.Ser2610Ter)
c.896-29987C>G
c.2660C>G (p.Ser887Ter)
c.7703C>G (p.Ser2568Ter)
n.1632C>G
c.7832C>G (p.Ser2611Ter)
2g.73489788C>TCA347264162ALMS1c.7448C>T (p.Ser2483Leu)
c.840C>T
c.4900C>T
c.1895C>T (p.Ser632Leu)
c.7829C>T (p.Ser2610Leu)
c.896-29987C>T
c.2660C>T (p.Ser887Leu)
c.7703C>T (p.Ser2568Leu)
n.1632C>T
c.7832C>T (p.Ser2611Leu)
 gnomAD v4
2g.73489789A>CCA426765878ALMS1c.7449A>C (p.Ser2483=)
c.841A>C
c.4901A>C
c.1896A>C (p.Ser632=)
c.7830A>C (p.Ser2610=)
c.896-29986A>C
c.2661A>C (p.Ser887=)
c.7704A>C (p.Ser2568=)
n.1633A>C
c.7833A>C (p.Ser2611=)
2g.73489789A>GCA426765879ALMS1c.7449A>G (p.Ser2483=)
c.841A>G
c.4901A>G
c.1896A>G (p.Ser632=)
c.7830A>G (p.Ser2610=)
c.896-29986A>G
c.2661A>G (p.Ser887=)
c.7704A>G (p.Ser2568=)
n.1633A>G
c.7833A>G (p.Ser2611=)
 ClinVar
2g.73489789A>TCA426765880ALMS1c.7449A>T (p.Ser2483=)
c.841A>T
c.4901A>T
c.1896A>T (p.Ser632=)
c.7830A>T (p.Ser2610=)
c.896-29986A>T
c.2661A>T (p.Ser887=)
c.7704A>T (p.Ser2568=)
n.1633A>T
c.7833A>T (p.Ser2611=)
2g.73489790G>ACA347264167ALMS1c.7450G>A (p.Glu2484Lys)
c.842G>A
c.4902G>A
c.1897G>A (p.Glu633Lys)
c.7831G>A (p.Glu2611Lys)
c.896-29985G>A
c.2662G>A (p.Glu888Lys)
c.7705G>A (p.Glu2569Lys)
n.1634G>A
c.7834G>A (p.Glu2612Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.73489790G>CCA347264169ALMS1c.7450G>C (p.Glu2484Gln)
c.842G>C
c.4902G>C
c.1897G>C (p.Glu633Gln)
c.7831G>C (p.Glu2611Gln)
c.896-29985G>C
c.2662G>C (p.Glu888Gln)
c.7705G>C (p.Glu2569Gln)
n.1634G>C
c.7834G>C (p.Glu2612Gln)
2g.73489790G=CA1260981160ALMS1c.7450G= (p.Glu2484=)
c.842G=
c.4902G=
c.1897G= (p.Glu633=)
c.7831G= (p.Glu2611=)
c.896-29985G=
c.2662G= (p.Glu888=)
c.7705G= (p.Glu2569=)
n.1634G=
c.7834G= (p.Glu2612=)
2g.73489790G>TCA347264170ALMS1c.7450G>T (p.Glu2484Ter)
c.842G>T
c.4902G>T
c.1897G>T (p.Glu633Ter)
c.7831G>T (p.Glu2611Ter)
c.896-29985G>T
c.2662G>T (p.Glu888Ter)
c.7705G>T (p.Glu2569Ter)
n.1634G>T
c.7834G>T (p.Glu2612Ter)
2g.73489791A>CCA347264172ALMS1c.7451A>C (p.Glu2484Ala)
c.843A>C
c.4903A>C
c.1898A>C (p.Glu633Ala)
c.7832A>C (p.Glu2611Ala)
c.896-29984A>C
c.2663A>C (p.Glu888Ala)
c.7706A>C (p.Glu2569Ala)
n.1635A>C
c.7835A>C (p.Glu2612Ala)
2g.73489791A>GCA347264174ALMS1c.7451A>G (p.Glu2484Gly)
c.843A>G
c.4903A>G
c.1898A>G (p.Glu633Gly)
c.7832A>G (p.Glu2611Gly)
c.896-29984A>G
c.2663A>G (p.Glu888Gly)
c.7706A>G (p.Glu2569Gly)
n.1635A>G
c.7835A>G (p.Glu2612Gly)
2g.73489791A>TCA347264175ALMS1c.7451A>T (p.Glu2484Val)
c.843A>T
c.4903A>T
c.1898A>T (p.Glu633Val)
c.7832A>T (p.Glu2611Val)
c.896-29984A>T
c.2663A>T (p.Glu888Val)
c.7706A>T (p.Glu2569Val)
n.1635A>T
c.7835A>T (p.Glu2612Val)
2g.73489792A>CCA347264178ALMS1c.7452A>C (p.Glu2484Asp)
c.844A>C
c.4904A>C
c.1899A>C (p.Glu633Asp)
c.7833A>C (p.Glu2611Asp)
c.896-29983A>C
c.2664A>C (p.Glu888Asp)
c.7707A>C (p.Glu2569Asp)
n.1636A>C
c.7836A>C (p.Glu2612Asp)
2g.73489792A>GCA426765890ALMS1c.7452A>G (p.Glu2484=)
c.844A>G
c.4904A>G
c.1899A>G (p.Glu633=)
c.7833A>G (p.Glu2611=)
c.896-29983A>G
c.2664A>G (p.Glu888=)
c.7707A>G (p.Glu2569=)
n.1636A>G
c.7836A>G (p.Glu2612=)
2g.73489792A>TCA347264176ALMS1c.7452A>T (p.Glu2484Asp)
c.844A>T
c.4904A>T
c.1899A>T (p.Glu633Asp)
c.7833A>T (p.Glu2611Asp)
c.896-29983A>T
c.2664A>T (p.Glu888Asp)
c.7707A>T (p.Glu2569Asp)
n.1636A>T
c.7836A>T (p.Glu2612Asp)
2g.73489793A>CCA347264180ALMS1c.7453A>C (p.Met2485Leu)
c.845A>C
c.4905A>C
c.1900A>C (p.Met634Leu)
c.7834A>C (p.Met2612Leu)
c.896-29982A>C
c.2665A>C (p.Met889Leu)
c.7708A>C (p.Met2570Leu)
n.1637A>C
c.7837A>C (p.Met2613Leu)
2g.73489793A>GCA347264181ALMS1c.7453A>G (p.Met2485Val)
c.845A>G
c.4905A>G
c.1900A>G (p.Met634Val)
c.7834A>G (p.Met2612Val)
c.896-29982A>G
c.2665A>G (p.Met889Val)
c.7708A>G (p.Met2570Val)
n.1637A>G
c.7837A>G (p.Met2613Val)
2g.73489793A>TCA347264183ALMS1c.7453A>T (p.Met2485Leu)
c.845A>T
c.4905A>T
c.1900A>T (p.Met634Leu)
c.7834A>T (p.Met2612Leu)
c.896-29982A>T
c.2665A>T (p.Met889Leu)
c.7708A>T (p.Met2570Leu)
n.1637A>T
c.7837A>T (p.Met2613Leu)
2g.73489794T>ACA347264185ALMS1c.7454T>A (p.Met2485Lys)
c.846T>A
c.4906T>A
c.1901T>A (p.Met634Lys)
c.7835T>A (p.Met2612Lys)
c.896-29981T>A
c.2666T>A (p.Met889Lys)
c.7709T>A (p.Met2570Lys)
n.1638T>A
c.7838T>A (p.Met2613Lys)
2g.73489794T>CCA347264186ALMS1c.7454T>C (p.Met2485Thr)
c.846T>C
c.4906T>C
c.1901T>C (p.Met634Thr)
c.7835T>C (p.Met2612Thr)
c.896-29981T>C
c.2666T>C (p.Met889Thr)
c.7709T>C (p.Met2570Thr)
n.1638T>C
c.7838T>C (p.Met2613Thr)
2g.73489794T>GCA347264188ALMS1c.7454T>G (p.Met2485Arg)
c.846T>G
c.4906T>G
c.1901T>G (p.Met634Arg)
c.7835T>G (p.Met2612Arg)
c.896-29981T>G
c.2666T>G (p.Met889Arg)
c.7709T>G (p.Met2570Arg)
n.1638T>G
c.7838T>G (p.Met2613Arg)
2g.73489795G>ACA347265884ALMS1c.7455G>A (p.Met2485Ile)
c.847G>A
c.4907G>A
c.1902G>A (p.Met634Ile)
c.7836G>A (p.Met2612Ile)
c.896-29980G>A
c.2667G>A (p.Met889Ile)
c.7710G>A (p.Met2570Ile)
n.1639G>A
c.7839G>A (p.Met2613Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73489795G>CCA347265889ALMS1c.7455G>C (p.Met2485Ile)
c.847G>C
c.4907G>C
c.1902G>C (p.Met634Ile)
c.7836G>C (p.Met2612Ile)
c.896-29980G>C
c.2667G>C (p.Met889Ile)
c.7710G>C (p.Met2570Ile)
n.1639G>C
c.7839G>C (p.Met2613Ile)
2g.73489795G=CA1260981161ALMS1c.7455G= (p.Met2485=)
c.847G=
c.4907G=
c.1902G= (p.Met634=)
c.7836G= (p.Met2612=)
c.896-29980G=
c.2667G= (p.Met889=)
c.7710G= (p.Met2570=)
n.1639G=
c.7839G= (p.Met2613=)
2g.73489795G>TCA347265887ALMS1c.7455G>T (p.Met2485Ile)
c.847G>T
c.4907G>T
c.1902G>T (p.Met634Ile)
c.7836G>T (p.Met2612Ile)
c.896-29980G>T
c.2667G>T (p.Met889Ile)
c.7710G>T (p.Met2570Ile)
n.1639G>T
c.7839G>T (p.Met2613Ile)
 gnomAD v4
2g.73489796A>CCA347265890ALMS1c.7456A>C (p.Thr2486Pro)
c.848A>C
c.4908A>C
c.1903A>C (p.Thr635Pro)
c.7837A>C (p.Thr2613Pro)
c.896-29979A>C
c.2668A>C (p.Thr890Pro)
c.7711A>C (p.Thr2571Pro)
n.1640A>C
c.7840A>C (p.Thr2614Pro)
2g.73489796A>GCA347265895ALMS1c.7456A>G (p.Thr2486Ala)
c.848A>G
c.4908A>G
c.1903A>G (p.Thr635Ala)
c.7837A>G (p.Thr2613Ala)
c.896-29979A>G
c.2668A>G (p.Thr890Ala)
c.7711A>G (p.Thr2571Ala)
n.1640A>G
c.7840A>G (p.Thr2614Ala)
2g.73489796A>TCA347265899ALMS1c.7456A>T (p.Thr2486Ser)
c.848A>T
c.4908A>T
c.1903A>T (p.Thr635Ser)
c.7837A>T (p.Thr2613Ser)
c.896-29979A>T
c.2668A>T (p.Thr890Ser)
c.7711A>T (p.Thr2571Ser)
n.1640A>T
c.7840A>T (p.Thr2614Ser)
 gnomAD v4
2g.73489797C>ACA347265904ALMS1c.7457C>A (p.Thr2486Asn)
c.849C>A
c.4909C>A
c.1904C>A (p.Thr635Asn)
c.7838C>A (p.Thr2613Asn)
c.896-29978C>A
c.2669C>A (p.Thr890Asn)
c.7712C>A (p.Thr2571Asn)
n.1641C>A
c.7841C>A (p.Thr2614Asn)
2g.73489797C>GCA347265909ALMS1c.7457C>G (p.Thr2486Ser)
c.849C>G
c.4909C>G
c.1904C>G (p.Thr635Ser)
c.7838C>G (p.Thr2613Ser)
c.896-29978C>G
c.2669C>G (p.Thr890Ser)
c.7712C>G (p.Thr2571Ser)
n.1641C>G
c.7841C>G (p.Thr2614Ser)
2g.73489797C>TCA347265911ALMS1c.7457C>T (p.Thr2486Ile)
c.849C>T
c.4909C>T
c.1904C>T (p.Thr635Ile)
c.7838C>T (p.Thr2613Ile)
c.896-29978C>T
c.2669C>T (p.Thr890Ile)
c.7712C>T (p.Thr2571Ile)
n.1641C>T
c.7841C>T (p.Thr2614Ile)
 gnomAD v4
2g.73489798C>ACA427000635ALMS1c.7458C>A (p.Thr2486=)
c.850C>A
c.4910C>A
c.1905C>A (p.Thr635=)
c.7839C>A (p.Thr2613=)
c.896-29977C>A
c.2670C>A (p.Thr890=)
c.7713C>A (p.Thr2571=)
n.1642C>A
c.7842C>A (p.Thr2614=)
 ClinVar dbSNP
2g.73489798C=CA1260981162ALMS1c.7458C= (p.Thr2486=)
c.850C=
c.4910C=
c.1905C= (p.Thr635=)
c.7839C= (p.Thr2613=)
c.896-29977C=
c.2670C= (p.Thr890=)
c.7713C= (p.Thr2571=)
n.1642C=
c.7842C= (p.Thr2614=)
2g.73489798C>GCA427000636ALMS1c.7458C>G (p.Thr2486=)
c.850C>G
c.4910C>G
c.1905C>G (p.Thr635=)
c.7839C>G (p.Thr2613=)
c.896-29977C>G
c.2670C>G (p.Thr890=)
c.7713C>G (p.Thr2571=)
n.1642C>G
c.7842C>G (p.Thr2614=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73489798C>TCA1714356ALMS1c.7458C>T (p.Thr2486=)
c.850C>T
c.4910C>T
c.1905C>T (p.Thr635=)
c.7839C>T (p.Thr2613=)
c.896-29977C>T
c.2670C>T (p.Thr890=)
c.7713C>T (p.Thr2571=)
n.1642C>T
c.7842C>T (p.Thr2614=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489799_73489805delCA2586969426ALMS1c.7459_7465del (p.Arg2487GlyfsTer18)
c.851_857del
c.4911_4917del
c.1906_1912del (p.Arg636GlyfsTer18)
c.7840_7846del (p.Arg2614GlyfsTer18)
c.896-29976_896-29970del
c.2671_2677del (p.Arg891GlyfsTer18)
c.7714_7720del (p.Arg2572GlyfsTer18)
n.1643_1649del
c.7843_7849del (p.Arg2615GlyfsTer18)
2g.73489799A=CA1260981163ALMS1c.7459A= (p.Arg2487=)
c.851A=
c.4911A=
c.1906A= (p.Arg636=)
c.7840A= (p.Arg2614=)
c.896-29976A=
c.2671A= (p.Arg891=)
c.7714A= (p.Arg2572=)
n.1643A=
c.7843A= (p.Arg2615=)
2g.73489799A>CCA427000637ALMS1c.7459A>C (p.Arg2487=)
c.851A>C
c.4911A>C
c.1906A>C (p.Arg636=)
c.7840A>C (p.Arg2614=)
c.896-29976A>C
c.2671A>C (p.Arg891=)
c.7714A>C (p.Arg2572=)
n.1643A>C
c.7843A>C (p.Arg2615=)
2g.73489799A>GCA1714357ALMS1c.7459A>G (p.Arg2487Gly)
c.851A>G
c.4911A>G
c.1906A>G (p.Arg636Gly)
c.7840A>G (p.Arg2614Gly)
c.896-29976A>G
c.2671A>G (p.Arg891Gly)
c.7714A>G (p.Arg2572Gly)
n.1643A>G
c.7843A>G (p.Arg2615Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489799A>TCA347265920ALMS1c.7459A>T (p.Arg2487Ter)
c.851A>T
c.4911A>T
c.1906A>T (p.Arg636Ter)
c.7840A>T (p.Arg2614Ter)
c.896-29976A>T
c.2671A>T (p.Arg891Ter)
c.7714A>T (p.Arg2572Ter)
n.1643A>T
c.7843A>T (p.Arg2615Ter)
2g.73489800G>ACA347265923ALMS1c.7460G>A (p.Arg2487Lys)
c.852G>A
c.4912G>A
c.1907G>A (p.Arg636Lys)
c.7841G>A (p.Arg2614Lys)
c.896-29975G>A
c.2672G>A (p.Arg891Lys)
c.7715G>A (p.Arg2572Lys)
n.1644G>A
c.7844G>A (p.Arg2615Lys)
 ClinVar
2g.73489800G>CCA50377544ALMS1c.7460G>C (p.Arg2487Thr)
c.852G>C
c.4912G>C
c.1907G>C (p.Arg636Thr)
c.7841G>C (p.Arg2614Thr)
c.896-29975G>C
c.2672G>C (p.Arg891Thr)
c.7715G>C (p.Arg2572Thr)
n.1644G>C
c.7844G>C (p.Arg2615Thr)
 dbSNP
2g.73489800G=CA1260981164ALMS1c.7460G= (p.Arg2487=)
c.852G=
c.4912G=
c.1907G= (p.Arg636=)
c.7841G= (p.Arg2614=)
c.896-29975G=
c.2672G= (p.Arg891=)
c.7715G= (p.Arg2572=)
n.1644G=
c.7844G= (p.Arg2615=)
2g.73489800G>TCA347265926ALMS1c.7460G>T (p.Arg2487Ile)
c.852G>T
c.4912G>T
c.1907G>T (p.Arg636Ile)
c.7841G>T (p.Arg2614Ile)
c.896-29975G>T
c.2672G>T (p.Arg891Ile)
c.7715G>T (p.Arg2572Ile)
n.1644G>T
c.7844G>T (p.Arg2615Ile)
2g.73489801A=CA1260981165ALMS1c.7461A= (p.Arg2487=)
c.853A=
c.4913A=
c.1908A= (p.Arg636=)
c.7842A= (p.Arg2614=)
c.896-29974A=
c.2673A= (p.Arg891=)
c.7716A= (p.Arg2572=)
n.1645A=
c.7845A= (p.Arg2615=)
2g.73489801A>CCA347265931ALMS1c.7461A>C (p.Arg2487Ser)
c.853A>C
c.4913A>C
c.1908A>C (p.Arg636Ser)
c.7842A>C (p.Arg2614Ser)
c.896-29974A>C
c.2673A>C (p.Arg891Ser)
c.7716A>C (p.Arg2572Ser)
n.1645A>C
c.7845A>C (p.Arg2615Ser)
2g.73489801A>GCA427000638ALMS1c.7461A>G (p.Arg2487=)
c.853A>G
c.4913A>G
c.1908A>G (p.Arg636=)
c.7842A>G (p.Arg2614=)
c.896-29974A>G
c.2673A>G (p.Arg891=)
c.7716A>G (p.Arg2572=)
n.1645A>G
c.7845A>G (p.Arg2615=)
 dbSNP gnomAD v4
2g.73489801A>TCA347265928ALMS1c.7461A>T (p.Arg2487Ser)
c.853A>T
c.4913A>T
c.1908A>T (p.Arg636Ser)
c.7842A>T (p.Arg2614Ser)
c.896-29974A>T
c.2673A>T (p.Arg891Ser)
c.7716A>T (p.Arg2572Ser)
n.1645A>T
c.7845A>T (p.Arg2615Ser)
2g.73489802G>ACA347265934ALMS1c.7462G>A (p.Gly2488Arg)
c.854G>A
c.4914G>A
c.1909G>A (p.Gly637Arg)
c.7843G>A (p.Gly2615Arg)
c.896-29973G>A
c.2674G>A (p.Gly892Arg)
c.7717G>A (p.Gly2573Arg)
n.1646G>A
c.7846G>A (p.Gly2616Arg)
 ClinVar
2g.73489802G>CCA347265938ALMS1c.7462G>C (p.Gly2488Arg)
c.854G>C
c.4914G>C
c.1909G>C (p.Gly637Arg)
c.7843G>C (p.Gly2615Arg)
c.896-29973G>C
c.2674G>C (p.Gly892Arg)
c.7717G>C (p.Gly2573Arg)
n.1646G>C
c.7846G>C (p.Gly2616Arg)
2g.73489802G>TCA347265936ALMS1c.7462G>T (p.Gly2488Ter)
c.854G>T
c.4914G>T
c.1909G>T (p.Gly637Ter)
c.7843G>T (p.Gly2615Ter)
c.896-29973G>T
c.2674G>T (p.Gly892Ter)
c.7717G>T (p.Gly2573Ter)
n.1646G>T
c.7846G>T (p.Gly2616Ter)
2g.73489803G>ACA347265941ALMS1c.7463G>A (p.Gly2488Glu)
c.855G>A
c.4915G>A
c.1910G>A (p.Gly637Glu)
c.7844G>A (p.Gly2615Glu)
c.896-29972G>A
c.2675G>A (p.Gly892Glu)
c.7718G>A (p.Gly2573Glu)
n.1647G>A
c.7847G>A (p.Gly2616Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73489803G>CCA347265946ALMS1c.7463G>C (p.Gly2488Ala)
c.855G>C
c.4915G>C
c.1910G>C (p.Gly637Ala)
c.7844G>C (p.Gly2615Ala)
c.896-29972G>C
c.2675G>C (p.Gly892Ala)
c.7718G>C (p.Gly2573Ala)
n.1647G>C
c.7847G>C (p.Gly2616Ala)
2g.73489803G=CA1260981166ALMS1c.7463G= (p.Gly2488=)
c.855G=
c.4915G=
c.1910G= (p.Gly637=)
c.7844G= (p.Gly2615=)
c.896-29972G=
c.2675G= (p.Gly892=)
c.7718G= (p.Gly2573=)
n.1647G=
c.7847G= (p.Gly2616=)
2g.73489803G>TCA347265944ALMS1c.7463G>T (p.Gly2488Val)
c.855G>T
c.4915G>T
c.1910G>T (p.Gly637Val)
c.7844G>T (p.Gly2615Val)
c.896-29972G>T
c.2675G>T (p.Gly892Val)
c.7718G>T (p.Gly2573Val)
n.1647G>T
c.7847G>T (p.Gly2616Val)
2g.73489804A>CCA427000640ALMS1c.7464A>C (p.Gly2488=)
c.856A>C
c.4916A>C
c.1911A>C (p.Gly637=)
c.7845A>C (p.Gly2615=)
c.896-29971A>C
c.2676A>C (p.Gly892=)
c.7719A>C (p.Gly2573=)
n.1648A>C
c.7848A>C (p.Gly2616=)
2g.73489804A>GCA427000641ALMS1c.7464A>G (p.Gly2488=)
c.856A>G
c.4916A>G
c.1911A>G (p.Gly637=)
c.7845A>G (p.Gly2615=)
c.896-29971A>G
c.2676A>G (p.Gly892=)
c.7719A>G (p.Gly2573=)
n.1648A>G
c.7848A>G (p.Gly2616=)
 gnomAD v4
2g.73489804A>TCA427000639ALMS1c.7464A>T (p.Gly2488=)
c.856A>T
c.4916A>T
c.1911A>T (p.Gly637=)
c.7845A>T (p.Gly2615=)
c.896-29971A>T
c.2676A>T (p.Gly892=)
c.7719A>T (p.Gly2573=)
n.1648A>T
c.7848A>T (p.Gly2616=)
2g.73489805C>ACA427000642ALMS1c.7465C>A (p.Arg2489=)
c.857C>A
c.4917C>A
c.1912C>A (p.Arg638=)
c.7846C>A (p.Arg2616=)
c.896-29970C>A
c.2677C>A (p.Arg893=)
c.7720C>A (p.Arg2574=)
n.1649C>A
c.7849C>A (p.Arg2617=)
 gnomAD v4
2g.73489805C=CA1260981167ALMS1c.7465C= (p.Arg2489=)
c.857C=
c.4917C=
c.1912C= (p.Arg638=)
c.7846C= (p.Arg2616=)
c.896-29970C=
c.2677C= (p.Arg893=)
c.7720C= (p.Arg2574=)
n.1649C=
c.7849C= (p.Arg2617=)
2g.73489805C>GCA347265948ALMS1c.7465C>G (p.Arg2489Gly)
c.857C>G
c.4917C>G
c.1912C>G (p.Arg638Gly)
c.7846C>G (p.Arg2616Gly)
c.896-29970C>G
c.2677C>G (p.Arg893Gly)
c.7720C>G (p.Arg2574Gly)
n.1649C>G
c.7849C>G (p.Arg2617Gly)
2g.73489805C>TCA1714358ALMS1c.7465C>T (p.Arg2489Trp)
c.857C>T
c.4917C>T
c.1912C>T (p.Arg638Trp)
c.7846C>T (p.Arg2616Trp)
c.896-29970C>T
c.2677C>T (p.Arg893Trp)
c.7720C>T (p.Arg2574Trp)
n.1649C>T
c.7849C>T (p.Arg2617Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489806G>ACA347265954ALMS1c.7466G>A (p.Arg2489Gln)
c.858G>A
c.4918G>A
c.1913G>A (p.Arg638Gln)
c.7847G>A (p.Arg2616Gln)
c.896-29969G>A
c.2678G>A (p.Arg893Gln)
c.7721G>A (p.Arg2574Gln)
n.1650G>A
c.7850G>A (p.Arg2617Gln)
 ClinVar dbSNP gnomAD v4
2g.73489806G>CCA347265957ALMS1c.7466G>C (p.Arg2489Pro)
c.858G>C
c.4918G>C
c.1913G>C (p.Arg638Pro)
c.7847G>C (p.Arg2616Pro)
c.896-29969G>C
c.2678G>C (p.Arg893Pro)
c.7721G>C (p.Arg2574Pro)
n.1650G>C
c.7850G>C (p.Arg2617Pro)
2g.73489806G=CA1260981168ALMS1c.7466G= (p.Arg2489=)
c.858G=
c.4918G=
c.1913G= (p.Arg638=)
c.7847G= (p.Arg2616=)
c.896-29969G=
c.2678G= (p.Arg893=)
c.7721G= (p.Arg2574=)
n.1650G=
c.7850G= (p.Arg2617=)
2g.73489806G>TCA347265959ALMS1c.7466G>T (p.Arg2489Leu)
c.858G>T
c.4918G>T
c.1913G>T (p.Arg638Leu)
c.7847G>T (p.Arg2616Leu)
c.896-29969G>T
c.2678G>T (p.Arg893Leu)
c.7721G>T (p.Arg2574Leu)
n.1650G>T
c.7850G>T (p.Arg2617Leu)
2g.73489807G>ACA427000643ALMS1c.7467G>A (p.Arg2489=)
c.859G>A
c.4919G>A
c.1914G>A (p.Arg638=)
c.7848G>A (p.Arg2616=)
c.896-29968G>A
c.2679G>A (p.Arg893=)
c.7722G>A (p.Arg2574=)
n.1651G>A
c.7851G>A (p.Arg2617=)
2g.73489807G>CCA427000644ALMS1c.7467G>C (p.Arg2489=)
c.859G>C
c.4919G>C
c.1914G>C (p.Arg638=)
c.7848G>C (p.Arg2616=)
c.896-29968G>C
c.2679G>C (p.Arg893=)
c.7722G>C (p.Arg2574=)
n.1651G>C
c.7851G>C (p.Arg2617=)
2g.73489807G>TCA427000645ALMS1c.7467G>T (p.Arg2489=)
c.859G>T
c.4919G>T
c.1914G>T (p.Arg638=)
c.7848G>T (p.Arg2616=)
c.896-29968G>T
c.2679G>T (p.Arg893=)
c.7722G>T (p.Arg2574=)
n.1651G>T
c.7851G>T (p.Arg2617=)
 gnomAD v4
2g.73489808C>ACA347265962ALMS1c.7468C>A (p.Gln2490Lys)
c.860C>A
c.4920C>A
c.1915C>A (p.Gln639Lys)
c.7849C>A (p.Gln2617Lys)
c.896-29967C>A
c.2680C>A (p.Gln894Lys)
c.7723C>A (p.Gln2575Lys)
n.1652C>A
c.7852C>A (p.Gln2618Lys)
2g.73489808C>GCA347265965ALMS1c.7468C>G (p.Gln2490Glu)
c.860C>G
c.4920C>G
c.1915C>G (p.Gln639Glu)
c.7849C>G (p.Gln2617Glu)
c.896-29967C>G
c.2680C>G (p.Gln894Glu)
c.7723C>G (p.Gln2575Glu)
n.1652C>G
c.7852C>G (p.Gln2618Glu)
2g.73489808C>TCA347265967ALMS1c.7468C>T (p.Gln2490Ter)
c.860C>T
c.4920C>T
c.1915C>T (p.Gln639Ter)
c.7849C>T (p.Gln2617Ter)
c.896-29967C>T
c.2680C>T (p.Gln894Ter)
c.7723C>T (p.Gln2575Ter)
n.1652C>T
c.7852C>T (p.Gln2618Ter)
2g.73489809A=CA1260981169ALMS1c.7469A= (p.Gln2490=)
c.861A=
c.4921A=
c.1916A= (p.Gln639=)
c.7850A= (p.Gln2617=)
c.896-29966A=
c.2681A= (p.Gln894=)
c.7724A= (p.Gln2575=)
n.1653A=
c.7853A= (p.Gln2618=)
2g.73489809A>CCA347265969ALMS1c.7469A>C (p.Gln2490Pro)
c.861A>C
c.4921A>C
c.1916A>C (p.Gln639Pro)
c.7850A>C (p.Gln2617Pro)
c.896-29966A>C
c.2681A>C (p.Gln894Pro)
c.7724A>C (p.Gln2575Pro)
n.1653A>C
c.7853A>C (p.Gln2618Pro)
2g.73489809A>GCA1714359ALMS1c.7469A>G (p.Gln2490Arg)
c.861A>G
c.4921A>G
c.1916A>G (p.Gln639Arg)
c.7850A>G (p.Gln2617Arg)
c.896-29966A>G
c.2681A>G (p.Gln894Arg)
c.7724A>G (p.Gln2575Arg)
n.1653A>G
c.7853A>G (p.Gln2618Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489809A>TCA347265974ALMS1c.7469A>T (p.Gln2490Leu)
c.861A>T
c.4921A>T
c.1916A>T (p.Gln639Leu)
c.7850A>T (p.Gln2617Leu)
c.896-29966A>T
c.2681A>T (p.Gln894Leu)
c.7724A>T (p.Gln2575Leu)
n.1653A>T
c.7853A>T (p.Gln2618Leu)
2g.73489810G>ACA427000646ALMS1c.7470G>A (p.Gln2490=)
c.862G>A
c.4922G>A
c.1917G>A (p.Gln639=)
c.7851G>A (p.Gln2617=)
c.896-29965G>A
c.2682G>A (p.Gln894=)
c.7725G>A (p.Gln2575=)
n.1654G>A
c.7854G>A (p.Gln2618=)
 dbSNP gnomAD v2 gnomAD v4
2g.73489810G>CCA347265978ALMS1c.7470G>C (p.Gln2490His)
c.862G>C
c.4922G>C
c.1917G>C (p.Gln639His)
c.7851G>C (p.Gln2617His)
c.896-29965G>C
c.2682G>C (p.Gln894His)
c.7725G>C (p.Gln2575His)
n.1654G>C
c.7854G>C (p.Gln2618His)
 gnomAD v4
2g.73489810G=CA1260981170ALMS1c.7470G= (p.Gln2490=)
c.862G=
c.4922G=
c.1917G= (p.Gln639=)
c.7851G= (p.Gln2617=)
c.896-29965G=
c.2682G= (p.Gln894=)
c.7725G= (p.Gln2575=)
n.1654G=
c.7854G= (p.Gln2618=)
2g.73489810G>TCA347265977ALMS1c.7470G>T (p.Gln2490His)
c.862G>T
c.4922G>T
c.1917G>T (p.Gln639His)
c.7851G>T (p.Gln2617His)
c.896-29965G>T
c.2682G>T (p.Gln894His)
c.7725G>T (p.Gln2575His)
n.1654G>T
c.7854G>T (p.Gln2618His)
2g.73489811A>CCA347265982ALMS1c.7471A>C (p.Asn2491His)
c.863A>C
c.4923A>C
c.1918A>C (p.Asn640His)
c.7852A>C (p.Asn2618His)
c.896-29964A>C
c.2683A>C (p.Asn895His)
c.7726A>C (p.Asn2576His)
n.1655A>C
c.7855A>C (p.Asn2619His)
2g.73489811A>GCA347265985ALMS1c.7471A>G (p.Asn2491Asp)
c.863A>G
c.4923A>G
c.1918A>G (p.Asn640Asp)
c.7852A>G (p.Asn2618Asp)
c.896-29964A>G
c.2683A>G (p.Asn895Asp)
c.7726A>G (p.Asn2576Asp)
n.1655A>G
c.7855A>G (p.Asn2619Asp)
2g.73489811A>TCA347265987ALMS1c.7471A>T (p.Asn2491Tyr)
c.863A>T
c.4923A>T
c.1918A>T (p.Asn640Tyr)
c.7852A>T (p.Asn2618Tyr)
c.896-29964A>T
c.2683A>T (p.Asn895Tyr)
c.7726A>T (p.Asn2576Tyr)
n.1655A>T
c.7855A>T (p.Asn2619Tyr)
2g.73489812A>CCA347265989ALMS1c.7472A>C (p.Asn2491Thr)
c.864A>C
c.4924A>C
c.1919A>C (p.Asn640Thr)
c.7853A>C (p.Asn2618Thr)
c.896-29963A>C
c.2684A>C (p.Asn895Thr)
c.7727A>C (p.Asn2576Thr)
n.1656A>C
c.7856A>C (p.Asn2619Thr)
2g.73489812A>GCA347265992ALMS1c.7472A>G (p.Asn2491Ser)
c.864A>G
c.4924A>G
c.1919A>G (p.Asn640Ser)
c.7853A>G (p.Asn2618Ser)
c.896-29963A>G
c.2684A>G (p.Asn895Ser)
c.7727A>G (p.Asn2576Ser)
n.1656A>G
c.7856A>G (p.Asn2619Ser)
 gnomAD v4
2g.73489812A>TCA347265995ALMS1c.7472A>T (p.Asn2491Ile)
c.864A>T
c.4924A>T
c.1919A>T (p.Asn640Ile)
c.7853A>T (p.Asn2618Ile)
c.896-29963A>T
c.2684A>T (p.Asn895Ile)
c.7727A>T (p.Asn2576Ile)
n.1656A>T
c.7856A>T (p.Asn2619Ile)
 gnomAD v4
2g.73489813C>ACA347265998ALMS1c.7473C>A (p.Asn2491Lys)
c.865C>A
c.4925C>A
c.1920C>A (p.Asn640Lys)
c.7854C>A (p.Asn2618Lys)
c.896-29962C>A
c.2685C>A (p.Asn895Lys)
c.7728C>A (p.Asn2576Lys)
n.1657C>A
c.7857C>A (p.Asn2619Lys)
2g.73489813C=CA1260981171ALMS1c.7473C= (p.Asn2491=)
c.865C=
c.4925C=
c.1920C= (p.Asn640=)
c.7854C= (p.Asn2618=)
c.896-29962C=
c.2685C= (p.Asn895=)
c.7728C= (p.Asn2576=)
n.1657C=
c.7857C= (p.Asn2619=)
2g.73489813C>GCA347266001ALMS1c.7473C>G (p.Asn2491Lys)
c.865C>G
c.4925C>G
c.1920C>G (p.Asn640Lys)
c.7854C>G (p.Asn2618Lys)
c.896-29962C>G
c.2685C>G (p.Asn895Lys)
c.7728C>G (p.Asn2576Lys)
n.1657C>G
c.7857C>G (p.Asn2619Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489813C>TCA427000647ALMS1c.7473C>T (p.Asn2491=)
c.865C>T
c.4925C>T
c.1920C>T (p.Asn640=)
c.7854C>T (p.Asn2618=)
c.896-29962C>T
c.2685C>T (p.Asn895=)
c.7728C>T (p.Asn2576=)
n.1657C>T
c.7857C>T (p.Asn2619=)
 ClinVar
2g.73489814C>ACA347266003ALMS1c.7474C>A (p.Pro2492Thr)
c.866C>A
c.4926C>A
c.1921C>A (p.Pro641Thr)
c.7855C>A (p.Pro2619Thr)
c.896-29961C>A
c.2686C>A (p.Pro896Thr)
c.7729C>A (p.Pro2577Thr)
n.1658C>A
c.7858C>A (p.Pro2620Thr)
2g.73489814C=CA1260981173ALMS1c.7474C= (p.Pro2492=)
c.866C=
c.4926C=
c.1921C= (p.Pro641=)
c.7855C= (p.Pro2619=)
c.896-29961C=
c.2686C= (p.Pro896=)
c.7729C= (p.Pro2577=)
n.1658C=
c.7858C= (p.Pro2620=)
2g.73489814C>GCA347266004ALMS1c.7474C>G (p.Pro2492Ala)
c.866C>G
c.4926C>G
c.1921C>G (p.Pro641Ala)
c.7855C>G (p.Pro2619Ala)
c.896-29961C>G
c.2686C>G (p.Pro896Ala)
c.7729C>G (p.Pro2577Ala)
n.1658C>G
c.7858C>G (p.Pro2620Ala)
2g.73489814C>TCA347266005ALMS1c.7474C>T (p.Pro2492Ser)
c.866C>T
c.4926C>T
c.1921C>T (p.Pro641Ser)
c.7855C>T (p.Pro2619Ser)
c.896-29961C>T
c.2686C>T (p.Pro896Ser)
c.7729C>T (p.Pro2577Ser)
n.1658C>T
c.7858C>T (p.Pro2620Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489814_73489817delinsCCATCA1260981172ALMS1c.7474_7477delinsCCAT (p.Pro2492=)
c.866_869delinsCCAT
c.4926_4929delinsCCAT
c.1921_1924delinsCCAT (p.Pro641=)
c.7855_7858delinsCCAT (p.Pro2619=)
c.896-29961_896-29958delinsCCAT
c.2686_2689delinsCCAT (p.Pro896=)
c.7729_7732delinsCCAT (p.Pro2577=)
n.1658_1661delinsCCAT
c.7858_7861delinsCCAT (p.Pro2620=)
2g.73489815C>ACA347266013ALMS1c.7475C>A (p.Pro2492Gln)
c.867C>A
c.4927C>A
c.1922C>A (p.Pro641Gln)
c.7856C>A (p.Pro2619Gln)
c.896-29960C>A
c.2687C>A (p.Pro896Gln)
c.7730C>A (p.Pro2577Gln)
n.1659C>A
c.7859C>A (p.Pro2620Gln)
2g.73489815C=CA1260981174ALMS1c.7475C= (p.Pro2492=)
c.867C=
c.4927C=
c.1922C= (p.Pro641=)
c.7856C= (p.Pro2619=)
c.896-29960C=
c.2687C= (p.Pro896=)
c.7730C= (p.Pro2577=)
n.1659C=
c.7859C= (p.Pro2620=)
2g.73489815C>GCA347266015ALMS1c.7475C>G (p.Pro2492Arg)
c.867C>G
c.4927C>G
c.1922C>G (p.Pro641Arg)
c.7856C>G (p.Pro2619Arg)
c.896-29960C>G
c.2687C>G (p.Pro896Arg)
c.7730C>G (p.Pro2577Arg)
n.1659C>G
c.7859C>G (p.Pro2620Arg)
 ClinVar dbSNP
2g.73489815C>TCA347266007ALMS1c.7475C>T (p.Pro2492Leu)
c.867C>T
c.4927C>T
c.1922C>T (p.Pro641Leu)
c.7856C>T (p.Pro2619Leu)
c.896-29960C>T
c.2687C>T (p.Pro896Leu)
c.7730C>T (p.Pro2577Leu)
n.1659C>T
c.7859C>T (p.Pro2620Leu)
 gnomAD v4
2g.73489821_73489823delCA534125522ALMS1c.7481_7483del (p.Ser2494del)
c.873_875del
c.4933_4935del
c.1928_1930del (p.Ser643del)
c.7862_7864del (p.Ser2621del)
c.896-29954_896-29952del
c.2693_2695del (p.Ser898del)
c.7736_7738del (p.Ser2579del)
n.1665_1667del
c.7865_7867del (p.Ser2622del)
 dbSNP gnomAD v2
2g.73489816A=CA1260981175ALMS1c.7476A= (p.Pro2492=)
c.868A=
c.4928A=
c.1923A= (p.Pro641=)
c.7857A= (p.Pro2619=)
c.896-29959A=
c.2688A= (p.Pro896=)
c.7731A= (p.Pro2577=)
n.1660A=
c.7860A= (p.Pro2620=)
2g.73489816A>CCA427000648ALMS1c.7476A>C (p.Pro2492=)
c.868A>C
c.4928A>C
c.1923A>C (p.Pro641=)
c.7857A>C (p.Pro2619=)
c.896-29959A>C
c.2688A>C (p.Pro896=)
c.7731A>C (p.Pro2577=)
n.1660A>C
c.7860A>C (p.Pro2620=)
2g.73489816A>GCA427000649ALMS1c.7476A>G (p.Pro2492=)
c.868A>G
c.4928A>G
c.1923A>G (p.Pro641=)
c.7857A>G (p.Pro2619=)
c.896-29959A>G
c.2688A>G (p.Pro896=)
c.7731A>G (p.Pro2577=)
n.1660A>G
c.7860A>G (p.Pro2620=)
 dbSNP gnomAD v4
2g.73489816A>TCA427000650ALMS1c.7476A>T (p.Pro2492=)
c.868A>T
c.4928A>T
c.1923A>T (p.Pro641=)
c.7857A>T (p.Pro2619=)
c.896-29959A>T
c.2688A>T (p.Pro896=)
c.7731A>T (p.Pro2577=)
n.1660A>T
c.7860A>T (p.Pro2620=)
2g.73489817T>ACA347266016ALMS1c.7477T>A (p.Ser2493Thr)
c.869T>A
c.4929T>A
c.1924T>A (p.Ser642Thr)
c.7858T>A (p.Ser2620Thr)
c.896-29958T>A
c.2689T>A (p.Ser897Thr)
c.7732T>A (p.Ser2578Thr)
n.1661T>A
c.7861T>A (p.Ser2621Thr)
 dbSNP
2g.73489817T>CCA347266018ALMS1c.7477T>C (p.Ser2493Pro)
c.869T>C
c.4929T>C
c.1924T>C (p.Ser642Pro)
c.7858T>C (p.Ser2620Pro)
c.896-29958T>C
c.2689T>C (p.Ser897Pro)
c.7732T>C (p.Ser2578Pro)
n.1661T>C
c.7861T>C (p.Ser2621Pro)
2g.73489817T>GCA347266019ALMS1c.7477T>G (p.Ser2493Ala)
c.869T>G
c.4929T>G
c.1924T>G (p.Ser642Ala)
c.7858T>G (p.Ser2620Ala)
c.896-29958T>G
c.2689T>G (p.Ser897Ala)
c.7732T>G (p.Ser2578Ala)
n.1661T>G
c.7861T>G (p.Ser2621Ala)
2g.73489817T=CA1260981176ALMS1c.7477T= (p.Ser2493=)
c.869T=
c.4929T=
c.1924T= (p.Ser642=)
c.7858T= (p.Ser2620=)
c.896-29958T=
c.2689T= (p.Ser897=)
c.7732T= (p.Ser2578=)
n.1661T=
c.7861T= (p.Ser2621=)
2g.73489818C>ACA347266024ALMS1c.7478C>A (p.Ser2493Ter)
c.870C>A
c.4930C>A
c.1925C>A (p.Ser642Ter)
c.7859C>A (p.Ser2620Ter)
c.896-29957C>A
c.2690C>A (p.Ser897Ter)
c.7733C>A (p.Ser2578Ter)
n.1662C>A
c.7862C>A (p.Ser2621Ter)
2g.73489818C>GCA347266026ALMS1c.7478C>G (p.Ser2493Ter)
c.870C>G
c.4930C>G
c.1925C>G (p.Ser642Ter)
c.7859C>G (p.Ser2620Ter)
c.896-29957C>G
c.2690C>G (p.Ser897Ter)
c.7733C>G (p.Ser2578Ter)
n.1662C>G
c.7862C>G (p.Ser2621Ter)
2g.73489818C>TCA347266028ALMS1c.7478C>T (p.Ser2493Leu)
c.870C>T
c.4930C>T
c.1925C>T (p.Ser642Leu)
c.7859C>T (p.Ser2620Leu)
c.896-29957C>T
c.2690C>T (p.Ser897Leu)
c.7733C>T (p.Ser2578Leu)
n.1662C>T
c.7862C>T (p.Ser2621Leu)
2g.73489819A>CCA427000651ALMS1c.7479A>C (p.Ser2493=)
c.871A>C
c.4931A>C
c.1926A>C (p.Ser642=)
c.7860A>C (p.Ser2620=)
c.896-29956A>C
c.2691A>C (p.Ser897=)
c.7734A>C (p.Ser2578=)
n.1663A>C
c.7863A>C (p.Ser2621=)
2g.73489819A>GCA427000652ALMS1c.7479A>G (p.Ser2493=)
c.871A>G
c.4931A>G
c.1926A>G (p.Ser642=)
c.7860A>G (p.Ser2620=)
c.896-29956A>G
c.2691A>G (p.Ser897=)
c.7734A>G (p.Ser2578=)
n.1663A>G
c.7863A>G (p.Ser2621=)
2g.73489819A>TCA427000653ALMS1c.7479A>T (p.Ser2493=)
c.871A>T
c.4931A>T
c.1926A>T (p.Ser642=)
c.7860A>T (p.Ser2620=)
c.896-29956A>T
c.2691A>T (p.Ser897=)
c.7734A>T (p.Ser2578=)
n.1663A>T
c.7863A>T (p.Ser2621=)
2g.73489820T>ACA347266030ALMS1c.7480T>A (p.Ser2494Thr)
c.872T>A
c.4932T>A
c.1927T>A (p.Ser643Thr)
c.7861T>A (p.Ser2621Thr)
c.896-29955T>A
c.2692T>A (p.Ser898Thr)
c.7735T>A (p.Ser2579Thr)
n.1664T>A
c.7864T>A (p.Ser2622Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489820T>CCA347266033ALMS1c.7480T>C (p.Ser2494Pro)
c.872T>C
c.4932T>C
c.1927T>C (p.Ser643Pro)
c.7861T>C (p.Ser2621Pro)
c.896-29955T>C
c.2692T>C (p.Ser898Pro)
c.7735T>C (p.Ser2579Pro)
n.1664T>C
c.7864T>C (p.Ser2622Pro)
 gnomAD v4
2g.73489820T>GCA347266035ALMS1c.7480T>G (p.Ser2494Ala)
c.872T>G
c.4932T>G
c.1927T>G (p.Ser643Ala)
c.7861T>G (p.Ser2621Ala)
c.896-29955T>G
c.2692T>G (p.Ser898Ala)
c.7735T>G (p.Ser2579Ala)
n.1664T>G
c.7864T>G (p.Ser2622Ala)
2g.73489820T=CA1260981177ALMS1c.7480T= (p.Ser2494=)
c.872T=
c.4932T=
c.1927T= (p.Ser643=)
c.7861T= (p.Ser2621=)
c.896-29955T=
c.2692T= (p.Ser898=)
c.7735T= (p.Ser2579=)
n.1664T=
c.7864T= (p.Ser2622=)
2g.73489821C>ACA347266038ALMS1c.7481C>A (p.Ser2494Ter)
c.873C>A
c.4933C>A
c.1928C>A (p.Ser643Ter)
c.7862C>A (p.Ser2621Ter)
c.896-29954C>A
c.2693C>A (p.Ser898Ter)
c.7736C>A (p.Ser2579Ter)
n.1665C>A
c.7865C>A (p.Ser2622Ter)
2g.73489821C=CA1260981178ALMS1c.7481C= (p.Ser2494=)
c.873C=
c.4933C=
c.1928C= (p.Ser643=)
c.7862C= (p.Ser2621=)
c.896-29954C=
c.2693C= (p.Ser898=)
c.7736C= (p.Ser2579=)
n.1665C=
c.7865C= (p.Ser2622=)
2g.73489821C>GCA347266041ALMS1c.7481C>G (p.Ser2494Ter)
c.873C>G
c.4933C>G
c.1928C>G (p.Ser643Ter)
c.7862C>G (p.Ser2621Ter)
c.896-29954C>G
c.2693C>G (p.Ser898Ter)
c.7736C>G (p.Ser2579Ter)
n.1665C>G
c.7865C>G (p.Ser2622Ter)
 dbSNP
2g.73489821C>TCA347266043ALMS1c.7481C>T (p.Ser2494Leu)
c.873C>T
c.4933C>T
c.1928C>T (p.Ser643Leu)
c.7862C>T (p.Ser2621Leu)
c.896-29954C>T
c.2693C>T (p.Ser898Leu)
c.7736C>T (p.Ser2579Leu)
n.1665C>T
c.7865C>T (p.Ser2622Leu)
2g.73489822A=CA1260981179ALMS1c.7482A= (p.Ser2494=)
c.874A=
c.4934A=
c.1929A= (p.Ser643=)
c.7863A= (p.Ser2621=)
c.896-29953A=
c.2694A= (p.Ser898=)
c.7737A= (p.Ser2579=)
n.1666A=
c.7866A= (p.Ser2622=)
2g.73489822A>CCA427000654ALMS1c.7482A>C (p.Ser2494=)
c.874A>C
c.4934A>C
c.1929A>C (p.Ser643=)
c.7863A>C (p.Ser2621=)
c.896-29953A>C
c.2694A>C (p.Ser898=)
c.7737A>C (p.Ser2579=)
n.1666A>C
c.7866A>C (p.Ser2622=)
 dbSNP gnomAD v2 gnomAD v4
2g.73489822A>GCA427000655ALMS1c.7482A>G (p.Ser2494=)
c.874A>G
c.4934A>G
c.1929A>G (p.Ser643=)
c.7863A>G (p.Ser2621=)
c.896-29953A>G
c.2694A>G (p.Ser898=)
c.7737A>G (p.Ser2579=)
n.1666A>G
c.7866A>G (p.Ser2622=)
 ClinVar
2g.73489822A>TCA427000656ALMS1c.7482A>T (p.Ser2494=)
c.874A>T
c.4934A>T
c.1929A>T (p.Ser643=)
c.7863A>T (p.Ser2621=)
c.896-29953A>T
c.2694A>T (p.Ser898=)
c.7737A>T (p.Ser2579=)
n.1666A>T
c.7866A>T (p.Ser2622=)
2g.73489823T>ACA347266048ALMS1c.7483T>A (p.Cys2495Ser)
c.875T>A
c.4935T>A
c.1930T>A (p.Cys644Ser)
c.7864T>A (p.Cys2622Ser)
c.896-29952T>A
c.2695T>A (p.Cys899Ser)
c.7738T>A (p.Cys2580Ser)
n.1667T>A
c.7867T>A (p.Cys2623Ser)
2g.73489823T>CCA347266050ALMS1c.7483T>C (p.Cys2495Arg)
c.875T>C
c.4935T>C
c.1930T>C (p.Cys644Arg)
c.7864T>C (p.Cys2622Arg)
c.896-29952T>C
c.2695T>C (p.Cys899Arg)
c.7738T>C (p.Cys2580Arg)
n.1667T>C
c.7867T>C (p.Cys2623Arg)
 gnomAD v4
2g.73489823T>GCA347266046ALMS1c.7483T>G (p.Cys2495Gly)
c.875T>G
c.4935T>G
c.1930T>G (p.Cys644Gly)
c.7864T>G (p.Cys2622Gly)
c.896-29952T>G
c.2695T>G (p.Cys899Gly)
c.7738T>G (p.Cys2580Gly)
n.1667T>G
c.7867T>G (p.Cys2623Gly)
 dbSNP
2g.73489823T=CA1260981180ALMS1c.7483T= (p.Cys2495=)
c.875T=
c.4935T=
c.1930T= (p.Cys644=)
c.7864T= (p.Cys2622=)
c.896-29952T=
c.2695T= (p.Cys899=)
c.7738T= (p.Cys2580=)
n.1667T=
c.7867T= (p.Cys2623=)
2g.73489823dupCA2573135752ALMS1c.7483dup (p.Cys2495LeufsTer?)
c.875dup
c.4935dup
c.1930dup (p.Cys644LeufsTer?)
c.7864dup (p.Cys2622LeufsTer?)
c.896-29952dup
c.2695dup (p.Cys899LeufsTer?)
c.7738dup (p.Cys2580LeufsTer?)
n.1667dup
c.7867dup (p.Cys2623LeufsTer?)
 ClinVar dbSNP
2g.73489824G>ACA347266053ALMS1c.7484G>A (p.Cys2495Tyr)
c.876G>A
c.4936G>A
c.1931G>A (p.Cys644Tyr)
c.7865G>A (p.Cys2622Tyr)
c.896-29951G>A
c.2696G>A (p.Cys899Tyr)
c.7739G>A (p.Cys2580Tyr)
n.1668G>A
c.7868G>A (p.Cys2623Tyr)
2g.73489824G>CCA347266055ALMS1c.7484G>C (p.Cys2495Ser)
c.876G>C
c.4936G>C
c.1931G>C (p.Cys644Ser)
c.7865G>C (p.Cys2622Ser)
c.896-29951G>C
c.2696G>C (p.Cys899Ser)
c.7739G>C (p.Cys2580Ser)
n.1668G>C
c.7868G>C (p.Cys2623Ser)
2g.73489824G>TCA347266058ALMS1c.7484G>T (p.Cys2495Phe)
c.876G>T
c.4936G>T
c.1931G>T (p.Cys644Phe)
c.7865G>T (p.Cys2622Phe)
c.896-29951G>T
c.2696G>T (p.Cys899Phe)
c.7739G>T (p.Cys2580Phe)
n.1668G>T
c.7868G>T (p.Cys2623Phe)
2g.73489825C>ACA347266060ALMS1c.7485C>A (p.Cys2495Ter)
c.877C>A
c.4937C>A
c.1932C>A (p.Cys644Ter)
c.7866C>A (p.Cys2622Ter)
c.896-29950C>A
c.2697C>A (p.Cys899Ter)
c.7740C>A (p.Cys2580Ter)
n.1669C>A
c.7869C>A (p.Cys2623Ter)
 ClinVar
2g.73489825C=CA1260981181ALMS1c.7485C= (p.Cys2495=)
c.877C=
c.4937C=
c.1932C= (p.Cys644=)
c.7866C= (p.Cys2622=)
c.896-29950C=
c.2697C= (p.Cys899=)
c.7740C= (p.Cys2580=)
n.1669C=
c.7869C= (p.Cys2623=)
2g.73489825C>GCA347266061ALMS1c.7485C>G (p.Cys2495Trp)
c.877C>G
c.4937C>G
c.1932C>G (p.Cys644Trp)
c.7866C>G (p.Cys2622Trp)
c.896-29950C>G
c.2697C>G (p.Cys899Trp)
c.7740C>G (p.Cys2580Trp)
n.1669C>G
c.7869C>G (p.Cys2623Trp)
2g.73489825C>TCA1714360ALMS1c.7485C>T (p.Cys2495=)
c.877C>T
c.4937C>T
c.1932C>T (p.Cys644=)
c.7866C>T (p.Cys2622=)
c.896-29950C>T
c.2697C>T (p.Cys899=)
c.7740C>T (p.Cys2580=)
n.1669C>T
c.7869C>T (p.Cys2623=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489826A>CCA427000657ALMS1c.7486A>C (p.Arg2496=)
c.878A>C
c.4938A>C
c.1933A>C (p.Arg645=)
c.7867A>C (p.Arg2623=)
c.896-29949A>C
c.2698A>C (p.Arg900=)
c.7741A>C (p.Arg2581=)
n.1670A>C
c.7870A>C (p.Arg2624=)
2g.73489826A>GCA347266068ALMS1c.7486A>G (p.Arg2496Gly)
c.878A>G
c.4938A>G
c.1933A>G (p.Arg645Gly)
c.7867A>G (p.Arg2623Gly)
c.896-29949A>G
c.2698A>G (p.Arg900Gly)
c.7741A>G (p.Arg2581Gly)
n.1670A>G
c.7870A>G (p.Arg2624Gly)
2g.73489826A>TCA347266071ALMS1c.7486A>T (p.Arg2496Ter)
c.878A>T
c.4938A>T
c.1933A>T (p.Arg645Ter)
c.7867A>T (p.Arg2623Ter)
c.896-29949A>T
c.2698A>T (p.Arg900Ter)
c.7741A>T (p.Arg2581Ter)
n.1670A>T
c.7870A>T (p.Arg2624Ter)
2g.73489827G>ACA347266075ALMS1c.7487G>A (p.Arg2496Lys)
c.879G>A
c.4939G>A
c.1934G>A (p.Arg645Lys)
c.7868G>A (p.Arg2623Lys)
c.896-29948G>A
c.2699G>A (p.Arg900Lys)
c.7742G>A (p.Arg2581Lys)
n.1671G>A
c.7871G>A (p.Arg2624Lys)
2g.73489827G>CCA347266078ALMS1c.7487G>C (p.Arg2496Thr)
c.879G>C
c.4939G>C
c.1934G>C (p.Arg645Thr)
c.7868G>C (p.Arg2623Thr)
c.896-29948G>C
c.2699G>C (p.Arg900Thr)
c.7742G>C (p.Arg2581Thr)
n.1671G>C
c.7871G>C (p.Arg2624Thr)
 gnomAD v4
2g.73489827G=CA1260981182ALMS1c.7487G= (p.Arg2496=)
c.879G=
c.4939G=
c.1934G= (p.Arg645=)
c.7868G= (p.Arg2623=)
c.896-29948G=
c.2699G= (p.Arg900=)
c.7742G= (p.Arg2581=)
n.1671G=
c.7871G= (p.Arg2624=)
2g.73489827G>TCA50377591ALMS1c.7487G>T (p.Arg2496Ile)
c.879G>T
c.4939G>T
c.1934G>T (p.Arg645Ile)
c.7868G>T (p.Arg2623Ile)
c.896-29948G>T
c.2699G>T (p.Arg900Ile)
c.7742G>T (p.Arg2581Ile)
n.1671G>T
c.7871G>T (p.Arg2624Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.73489828A>CCA347266080ALMS1c.7488A>C (p.Arg2496Ser)
c.880A>C
c.4940A>C
c.1935A>C (p.Arg645Ser)
c.7869A>C (p.Arg2623Ser)
c.896-29947A>C
c.2700A>C (p.Arg900Ser)
c.7743A>C (p.Arg2581Ser)
n.1672A>C
c.7872A>C (p.Arg2624Ser)
2g.73489828A>GCA427000658ALMS1c.7488A>G (p.Arg2496=)
c.880A>G
c.4940A>G
c.1935A>G (p.Arg645=)
c.7869A>G (p.Arg2623=)
c.896-29947A>G
c.2700A>G (p.Arg900=)
c.7743A>G (p.Arg2581=)
n.1672A>G
c.7872A>G (p.Arg2624=)
2g.73489828A>TCA347266082ALMS1c.7488A>T (p.Arg2496Ser)
c.880A>T
c.4940A>T
c.1935A>T (p.Arg645Ser)
c.7869A>T (p.Arg2623Ser)
c.896-29947A>T
c.2700A>T (p.Arg900Ser)
c.7743A>T (p.Arg2581Ser)
n.1672A>T
c.7872A>T (p.Arg2624Ser)
2g.73489829G>ACA1714361ALMS1c.7489G>A (p.Ala2497Thr)
c.881G>A
c.4941G>A
c.1936G>A (p.Ala646Thr)
c.7870G>A (p.Ala2624Thr)
c.896-29946G>A
c.2701G>A (p.Ala901Thr)
c.7744G>A (p.Ala2582Thr)
n.1673G>A
c.7873G>A (p.Ala2625Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489829G>CCA50377594ALMS1c.7489G>C (p.Ala2497Pro)
c.881G>C
c.4941G>C
c.1936G>C (p.Ala646Pro)
c.7870G>C (p.Ala2624Pro)
c.896-29946G>C
c.2701G>C (p.Ala901Pro)
c.7744G>C (p.Ala2582Pro)
n.1673G>C
c.7873G>C (p.Ala2625Pro)
 ClinVar dbSNP gnomAD v4
2g.73489829G=CA1260981183ALMS1c.7489G= (p.Ala2497=)
c.881G=
c.4941G=
c.1936G= (p.Ala646=)
c.7870G= (p.Ala2624=)
c.896-29946G=
c.2701G= (p.Ala901=)
c.7744G= (p.Ala2582=)
n.1673G=
c.7873G= (p.Ala2625=)
2g.73489829G>TCA347266083ALMS1c.7489G>T (p.Ala2497Ser)
c.881G>T
c.4941G>T
c.1936G>T (p.Ala646Ser)
c.7870G>T (p.Ala2624Ser)
c.896-29946G>T
c.2701G>T (p.Ala901Ser)
c.7744G>T (p.Ala2582Ser)
n.1673G>T
c.7873G>T (p.Ala2625Ser)
2g.73489830C>ACA347266084ALMS1c.7490C>A (p.Ala2497Asp)
c.882C>A
c.4942C>A
c.1937C>A (p.Ala646Asp)
c.7871C>A (p.Ala2624Asp)
c.896-29945C>A
c.2702C>A (p.Ala901Asp)
c.7745C>A (p.Ala2582Asp)
n.1674C>A
c.7874C>A (p.Ala2625Asp)
2g.73489830C>GCA347266095ALMS1c.7490C>G (p.Ala2497Gly)
c.882C>G
c.4942C>G
c.1937C>G (p.Ala646Gly)
c.7871C>G (p.Ala2624Gly)
c.896-29945C>G
c.2702C>G (p.Ala901Gly)
c.7745C>G (p.Ala2582Gly)
n.1674C>G
c.7874C>G (p.Ala2625Gly)
2g.73489830C>TCA347266092ALMS1c.7490C>T (p.Ala2497Val)
c.882C>T
c.4942C>T
c.1937C>T (p.Ala646Val)
c.7871C>T (p.Ala2624Val)
c.896-29945C>T
c.2702C>T (p.Ala901Val)
c.7745C>T (p.Ala2582Val)
n.1674C>T
c.7874C>T (p.Ala2625Val)
2g.73489831C>ACA427000659ALMS1c.7491C>A (p.Ala2497=)
c.883C>A
c.4943C>A
c.1938C>A (p.Ala646=)
c.7872C>A (p.Ala2624=)
c.896-29944C>A
c.2703C>A (p.Ala901=)
c.7746C>A (p.Ala2582=)
n.1675C>A
c.7875C>A (p.Ala2625=)
2g.73489831C=CA1260981184ALMS1c.7491C= (p.Ala2497=)
c.883C=
c.4943C=
c.1938C= (p.Ala646=)
c.7872C= (p.Ala2624=)
c.896-29944C=
c.2703C= (p.Ala901=)
c.7746C= (p.Ala2582=)
n.1675C=
c.7875C= (p.Ala2625=)
2g.73489831C>GCA1714362ALMS1c.7491C>G (p.Ala2497=)
c.883C>G
c.4943C>G
c.1938C>G (p.Ala646=)
c.7872C>G (p.Ala2624=)
c.896-29944C>G
c.2703C>G (p.Ala901=)
c.7746C>G (p.Ala2582=)
n.1675C>G
c.7875C>G (p.Ala2625=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489831C>TCA427000660ALMS1c.7491C>T (p.Ala2497=)
c.883C>T
c.4943C>T
c.1938C>T (p.Ala646=)
c.7872C>T (p.Ala2624=)
c.896-29944C>T
c.2703C>T (p.Ala901=)
c.7746C>T (p.Ala2582=)
n.1675C>T
c.7875C>T (p.Ala2625=)
2g.73489832A>CCA347266101ALMS1c.7492A>C (p.Lys2498Gln)
c.884A>C
c.4944A>C
c.1939A>C (p.Lys647Gln)
c.7873A>C (p.Lys2625Gln)
c.896-29943A>C
c.2704A>C (p.Lys902Gln)
c.7747A>C (p.Lys2583Gln)
n.1676A>C
c.7876A>C (p.Lys2626Gln)
2g.73489832A>GCA347266102ALMS1c.7492A>G (p.Lys2498Glu)
c.884A>G
c.4944A>G
c.1939A>G (p.Lys647Glu)
c.7873A>G (p.Lys2625Glu)
c.896-29943A>G
c.2704A>G (p.Lys902Glu)
c.7747A>G (p.Lys2583Glu)
n.1676A>G
c.7876A>G (p.Lys2626Glu)
2g.73489832A>TCA347266103ALMS1c.7492A>T (p.Lys2498Ter)
c.884A>T
c.4944A>T
c.1939A>T (p.Lys647Ter)
c.7873A>T (p.Lys2625Ter)
c.896-29943A>T
c.2704A>T (p.Lys902Ter)
c.7747A>T (p.Lys2583Ter)
n.1676A>T
c.7876A>T (p.Lys2626Ter)
2g.73489833A=CA1260981185ALMS1c.7493A= (p.Lys2498=)
c.885A=
c.4945A=
c.1940A= (p.Lys647=)
c.7874A= (p.Lys2625=)
c.896-29942A=
c.2705A= (p.Lys902=)
c.7748A= (p.Lys2583=)
n.1677A=
c.7877A= (p.Lys2626=)
2g.73489833A>CCA347266104ALMS1c.7493A>C (p.Lys2498Thr)
c.885A>C
c.4945A>C
c.1940A>C (p.Lys647Thr)
c.7874A>C (p.Lys2625Thr)
c.896-29942A>C
c.2705A>C (p.Lys902Thr)
c.7748A>C (p.Lys2583Thr)
n.1677A>C
c.7877A>C (p.Lys2626Thr)
2g.73489833A>GCA347266105ALMS1c.7493A>G (p.Lys2498Arg)
c.885A>G
c.4945A>G
c.1940A>G (p.Lys647Arg)
c.7874A>G (p.Lys2625Arg)
c.896-29942A>G
c.2705A>G (p.Lys902Arg)
c.7748A>G (p.Lys2583Arg)
n.1677A>G
c.7877A>G (p.Lys2626Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489833A>TCA347266106ALMS1c.7493A>T (p.Lys2498Met)
c.885A>T
c.4945A>T
c.1940A>T (p.Lys647Met)
c.7874A>T (p.Lys2625Met)
c.896-29942A>T
c.2705A>T (p.Lys902Met)
c.7748A>T (p.Lys2583Met)
n.1677A>T
c.7877A>T (p.Lys2626Met)
2g.73489834G>ACA427000661ALMS1c.7494G>A (p.Lys2498=)
c.886G>A
c.4946G>A
c.1941G>A (p.Lys647=)
c.7875G>A (p.Lys2625=)
c.896-29941G>A
c.2706G>A (p.Lys902=)
c.7749G>A (p.Lys2583=)
n.1678G>A
c.7878G>A (p.Lys2626=)
2g.73489834G>CCA347266107ALMS1c.7494G>C (p.Lys2498Asn)
c.886G>C
c.4946G>C
c.1941G>C (p.Lys647Asn)
c.7875G>C (p.Lys2625Asn)
c.896-29941G>C
c.2706G>C (p.Lys902Asn)
c.7749G>C (p.Lys2583Asn)
n.1678G>C
c.7878G>C (p.Lys2626Asn)
2g.73489834G>TCA347266108ALMS1c.7494G>T (p.Lys2498Asn)
c.886G>T
c.4946G>T
c.1941G>T (p.Lys647Asn)
c.7875G>T (p.Lys2625Asn)
c.896-29941G>T
c.2706G>T (p.Lys902Asn)
c.7749G>T (p.Lys2583Asn)
n.1678G>T
c.7878G>T (p.Lys2626Asn)
2g.73489835C>ACA347266109ALMS1c.7495C>A (p.His2499Asn)
c.887C>A
c.4947C>A
c.1942C>A (p.His648Asn)
c.7876C>A (p.His2626Asn)
c.896-29940C>A
c.2707C>A (p.His903Asn)
c.7750C>A (p.His2584Asn)
n.1679C>A
c.7879C>A (p.His2627Asn)
2g.73489835C=CA1260981186ALMS1c.7495C= (p.His2499=)
c.887C=
c.4947C=
c.1942C= (p.His648=)
c.7876C= (p.His2626=)
c.896-29940C=
c.2707C= (p.His903=)
c.7750C= (p.His2584=)
n.1679C=
c.7879C= (p.His2627=)
2g.73489835C>GCA347266111ALMS1c.7495C>G (p.His2499Asp)
c.887C>G
c.4947C>G
c.1942C>G (p.His648Asp)
c.7876C>G (p.His2626Asp)
c.896-29940C>G
c.2707C>G (p.His903Asp)
c.7750C>G (p.His2584Asp)
n.1679C>G
c.7879C>G (p.His2627Asp)
 dbSNP gnomAD v4
2g.73489835C>TCA347266113ALMS1c.7495C>T (p.His2499Tyr)
c.887C>T
c.4947C>T
c.1942C>T (p.His648Tyr)
c.7876C>T (p.His2626Tyr)
c.896-29940C>T
c.2707C>T (p.His903Tyr)
c.7750C>T (p.His2584Tyr)
n.1679C>T
c.7879C>T (p.His2627Tyr)
 gnomAD v4
2g.73489836A=CA1260981187ALMS1c.7496A= (p.His2499=)
c.888A=
c.4948A=
c.1943A= (p.His648=)
c.7877A= (p.His2626=)
c.896-29939A=
c.2708A= (p.His903=)
c.7751A= (p.His2584=)
n.1680A=
c.7880A= (p.His2627=)
2g.73489836A>CCA347266119ALMS1c.7496A>C (p.His2499Pro)
c.888A>C
c.4948A>C
c.1943A>C (p.His648Pro)
c.7877A>C (p.His2626Pro)
c.896-29939A>C
c.2708A>C (p.His903Pro)
c.7751A>C (p.His2584Pro)
n.1680A>C
c.7880A>C (p.His2627Pro)
2g.73489836A>GCA1714363ALMS1c.7496A>G (p.His2499Arg)
c.888A>G
c.4948A>G
c.1943A>G (p.His648Arg)
c.7877A>G (p.His2626Arg)
c.896-29939A>G
c.2708A>G (p.His903Arg)
c.7751A>G (p.His2584Arg)
n.1680A>G
c.7880A>G (p.His2627Arg)
 dbSNP ExAC gnomAD v4
2g.73489836A>TCA347266116ALMS1c.7496A>T (p.His2499Leu)
c.888A>T
c.4948A>T
c.1943A>T (p.His648Leu)
c.7877A>T (p.His2626Leu)
c.896-29939A>T
c.2708A>T (p.His903Leu)
c.7751A>T (p.His2584Leu)
n.1680A>T
c.7880A>T (p.His2627Leu)
2g.73489837T>ACA50377602ALMS1c.7497T>A (p.His2499Gln)
c.889T>A
c.4949T>A
c.1944T>A (p.His648Gln)
c.7878T>A (p.His2626Gln)
c.896-29938T>A
c.2709T>A (p.His903Gln)
c.7752T>A (p.His2584Gln)
n.1681T>A
c.7881T>A (p.His2627Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73489837T>CCA427000662ALMS1c.7497T>C (p.His2499=)
c.889T>C
c.4949T>C
c.1944T>C (p.His648=)
c.7878T>C (p.His2626=)
c.896-29938T>C
c.2709T>C (p.His903=)
c.7752T>C (p.His2584=)
n.1681T>C
c.7881T>C (p.His2627=)
 gnomAD v4
2g.73489837T>GCA347266133ALMS1c.7497T>G (p.His2499Gln)
c.889T>G
c.4949T>G
c.1944T>G (p.His648Gln)
c.7878T>G (p.His2626Gln)
c.896-29938T>G
c.2709T>G (p.His903Gln)
c.7752T>G (p.His2584Gln)
n.1681T>G
c.7881T>G (p.His2627Gln)
2g.73489837T=CA1260981188ALMS1c.7497T= (p.His2499=)
c.889T=
c.4949T=
c.1944T= (p.His648=)
c.7878T= (p.His2626=)
c.896-29938T=
c.2709T= (p.His903=)
c.7752T= (p.His2584=)
n.1681T=
c.7881T= (p.His2627=)
2g.73489838G>ACA347266135ALMS1c.7498G>A (p.Val2500Ile)
c.890G>A
c.4950G>A
c.1945G>A (p.Val649Ile)
c.7879G>A (p.Val2627Ile)
c.896-29937G>A
c.2710G>A (p.Val904Ile)
c.7753G>A (p.Val2585Ile)
n.1682G>A
c.7882G>A (p.Val2628Ile)
2g.73489838G>CCA347266138ALMS1c.7498G>C (p.Val2500Leu)
c.890G>C
c.4950G>C
c.1945G>C (p.Val649Leu)
c.7879G>C (p.Val2627Leu)
c.896-29937G>C
c.2710G>C (p.Val904Leu)
c.7753G>C (p.Val2585Leu)
n.1682G>C
c.7882G>C (p.Val2628Leu)
2g.73489838G>TCA347266141ALMS1c.7498G>T (p.Val2500Phe)
c.890G>T
c.4950G>T
c.1945G>T (p.Val649Phe)
c.7879G>T (p.Val2627Phe)
c.896-29937G>T
c.2710G>T (p.Val904Phe)
c.7753G>T (p.Val2585Phe)
n.1682G>T
c.7882G>T (p.Val2628Phe)
2g.73489838_73489839insACAGCA2499216253ALMS1c.7498_7499insACAG (p.Val2500AspfsTer?)
c.890_891insACAG
c.4950_4951insACAG
c.1945_1946insACAG (p.Val649AspfsTer?)
c.7879_7880insACAG (p.Val2627AspfsTer?)
c.896-29937_896-29936insACAG
c.2710_2711insACAG (p.Val904AspfsTer?)
c.7753_7754insACAG (p.Val2585AspfsTer?)
n.1682_1683insACAG
c.7882_7883insACAG (p.Val2628AspfsTer?)
 ClinVar dbSNP
2g.73489839T>ACA347266145ALMS1c.7499T>A (p.Val2500Asp)
c.891T>A
c.4951T>A
c.1946T>A (p.Val649Asp)
c.7880T>A (p.Val2627Asp)
c.896-29936T>A
c.2711T>A (p.Val904Asp)
c.7754T>A (p.Val2585Asp)
n.1683T>A
c.7883T>A (p.Val2628Asp)
2g.73489839T>CCA347266146ALMS1c.7499T>C (p.Val2500Ala)
c.891T>C
c.4951T>C
c.1946T>C (p.Val649Ala)
c.7880T>C (p.Val2627Ala)
c.896-29936T>C
c.2711T>C (p.Val904Ala)
c.7754T>C (p.Val2585Ala)
n.1683T>C
c.7883T>C (p.Val2628Ala)
2g.73489839T>GCA347266148ALMS1c.7499T>G (p.Val2500Gly)
c.891T>G
c.4951T>G
c.1946T>G (p.Val649Gly)
c.7880T>G (p.Val2627Gly)
c.896-29936T>G
c.2711T>G (p.Val904Gly)
c.7754T>G (p.Val2585Gly)
n.1683T>G
c.7883T>G (p.Val2628Gly)
2g.73489840C>ACA427000663ALMS1c.7500C>A (p.Val2500=)
c.892C>A
c.4952C>A
c.1947C>A (p.Val649=)
c.7881C>A (p.Val2627=)
c.896-29935C>A
c.2712C>A (p.Val904=)
c.7755C>A (p.Val2585=)
n.1684C>A
c.7884C>A (p.Val2628=)
2g.73489840C>GCA427000664ALMS1c.7500C>G (p.Val2500=)
c.892C>G
c.4952C>G
c.1947C>G (p.Val649=)
c.7881C>G (p.Val2627=)
c.896-29935C>G
c.2712C>G (p.Val904=)
c.7755C>G (p.Val2585=)
n.1684C>G
c.7884C>G (p.Val2628=)
2g.73489840C>TCA427000665ALMS1c.7500C>T (p.Val2500=)
c.892C>T
c.4952C>T
c.1947C>T (p.Val649=)
c.7881C>T (p.Val2627=)
c.896-29935C>T
c.2712C>T (p.Val904=)
c.7755C>T (p.Val2585=)
n.1684C>T
c.7884C>T (p.Val2628=)
2g.73489841A=CA1260981189ALMS1c.7501A= (p.Asn2501=)
c.893A=
c.4953A=
c.1948A= (p.Asn650=)
c.7882A= (p.Asn2628=)
c.896-29934A=
c.2713A= (p.Asn905=)
c.7756A= (p.Asn2586=)
n.1685A=
c.7885A= (p.Asn2629=)
2g.73489841A>CCA50377604ALMS1c.7501A>C (p.Asn2501His)
c.893A>C
c.4953A>C
c.1948A>C (p.Asn650His)
c.7882A>C (p.Asn2628His)
c.896-29934A>C
c.2713A>C (p.Asn905His)
c.7756A>C (p.Asn2586His)
n.1685A>C
c.7885A>C (p.Asn2629His)
 dbSNP gnomAD v4
2g.73489841A>GCA347266153ALMS1c.7501A>G (p.Asn2501Asp)
c.893A>G
c.4953A>G
c.1948A>G (p.Asn650Asp)
c.7882A>G (p.Asn2628Asp)
c.896-29934A>G
c.2713A>G (p.Asn905Asp)
c.7756A>G (p.Asn2586Asp)
n.1685A>G
c.7885A>G (p.Asn2629Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.73489841A>TCA347266157ALMS1c.7501A>T (p.Asn2501Tyr)
c.893A>T
c.4953A>T
c.1948A>T (p.Asn650Tyr)
c.7882A>T (p.Asn2628Tyr)
c.896-29934A>T
c.2713A>T (p.Asn905Tyr)
c.7756A>T (p.Asn2586Tyr)
n.1685A>T
c.7885A>T (p.Asn2629Tyr)
2g.73489842A=CA1260981190ALMS1c.7502A= (p.Asn2501=)
c.894A=
c.4954A=
c.1949A= (p.Asn650=)
c.7883A= (p.Asn2628=)
c.896-29933A=
c.2714A= (p.Asn905=)
c.7757A= (p.Asn2586=)
n.1686A=
c.7886A= (p.Asn2629=)
2g.73489842A>CCA347266167ALMS1c.7502A>C (p.Asn2501Thr)
c.894A>C
c.4954A>C
c.1949A>C (p.Asn650Thr)
c.7883A>C (p.Asn2628Thr)
c.896-29933A>C
c.2714A>C (p.Asn905Thr)
c.7757A>C (p.Asn2586Thr)
n.1686A>C
c.7886A>C (p.Asn2629Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.73489842A>GCA1714364ALMS1c.7502A>G (p.Asn2501Ser)
c.894A>G
c.4954A>G
c.1949A>G (p.Asn650Ser)
c.7883A>G (p.Asn2628Ser)
c.896-29933A>G
c.2714A>G (p.Asn905Ser)
c.7757A>G (p.Asn2586Ser)
n.1686A>G
c.7886A>G (p.Asn2629Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489842A>TCA347266163ALMS1c.7502A>T (p.Asn2501Ile)
c.894A>T
c.4954A>T
c.1949A>T (p.Asn650Ile)
c.7883A>T (p.Asn2628Ile)
c.896-29933A>T
c.2714A>T (p.Asn905Ile)
c.7757A>T (p.Asn2586Ile)
n.1686A>T
c.7886A>T (p.Asn2629Ile)
 gnomAD v4
2g.73489843C>ACA347266169ALMS1c.7503C>A (p.Asn2501Lys)
c.895C>A
c.4955C>A
c.1950C>A (p.Asn650Lys)
c.7884C>A (p.Asn2628Lys)
c.896-29932C>A
c.2715C>A (p.Asn905Lys)
c.7758C>A (p.Asn2586Lys)
n.1687C>A
c.7887C>A (p.Asn2629Lys)
2g.73489843C>GCA347266170ALMS1c.7503C>G (p.Asn2501Lys)
c.895C>G
c.4955C>G
c.1950C>G (p.Asn650Lys)
c.7884C>G (p.Asn2628Lys)
c.896-29932C>G
c.2715C>G (p.Asn905Lys)
c.7758C>G (p.Asn2586Lys)
n.1687C>G
c.7887C>G (p.Asn2629Lys)
2g.73489843C>TCA427000666ALMS1c.7503C>T (p.Asn2501=)
c.895C>T
c.4955C>T
c.1950C>T (p.Asn650=)
c.7884C>T (p.Asn2628=)
c.896-29932C>T
c.2715C>T (p.Asn905=)
c.7758C>T (p.Asn2586=)
n.1687C>T
c.7887C>T (p.Asn2629=)
2g.73489844C>ACA347266171ALMS1c.7504C>A (p.Leu2502Ile)
c.896C>A
c.4956C>A
c.1951C>A (p.Leu651Ile)
c.7885C>A (p.Leu2629Ile)
c.896-29931C>A
c.2716C>A (p.Leu906Ile)
c.7759C>A (p.Leu2587Ile)
n.1688C>A
c.7888C>A (p.Leu2630Ile)
2g.73489844C>GCA347266173ALMS1c.7504C>G (p.Leu2502Val)
c.896C>G
c.4956C>G
c.1951C>G (p.Leu651Val)
c.7885C>G (p.Leu2629Val)
c.896-29931C>G
c.2716C>G (p.Leu906Val)
c.7759C>G (p.Leu2587Val)
n.1688C>G
c.7888C>G (p.Leu2630Val)
 gnomAD v4
2g.73489844C>TCA347266176ALMS1c.7504C>T (p.Leu2502Phe)
c.896C>T
c.4956C>T
c.1951C>T (p.Leu651Phe)
c.7885C>T (p.Leu2629Phe)
c.896-29931C>T
c.2716C>T (p.Leu906Phe)
c.7759C>T (p.Leu2587Phe)
n.1688C>T
c.7888C>T (p.Leu2630Phe)
 gnomAD v4
2g.73489845T>ACA347266182ALMS1c.7505T>A (p.Leu2502His)
c.897T>A
c.4957T>A
c.1952T>A (p.Leu651His)
c.7886T>A (p.Leu2629His)
c.896-29930T>A
c.2717T>A (p.Leu906His)
c.7760T>A (p.Leu2587His)
n.1689T>A
c.7889T>A (p.Leu2630His)
2g.73489845T>CCA347266181ALMS1c.7505T>C (p.Leu2502Pro)
c.897T>C
c.4957T>C
c.1952T>C (p.Leu651Pro)
c.7886T>C (p.Leu2629Pro)
c.896-29930T>C
c.2717T>C (p.Leu906Pro)
c.7760T>C (p.Leu2587Pro)
n.1689T>C
c.7889T>C (p.Leu2630Pro)
2g.73489845T>GCA347266178ALMS1c.7505T>G (p.Leu2502Arg)
c.897T>G
c.4957T>G
c.1952T>G (p.Leu651Arg)
c.7886T>G (p.Leu2629Arg)
c.896-29930T>G
c.2717T>G (p.Leu906Arg)
c.7760T>G (p.Leu2587Arg)
n.1689T>G
c.7889T>G (p.Leu2630Arg)
2g.73489846T>ACA427000667ALMS1c.7506T>A (p.Leu2502=)
c.898T>A
c.4958T>A
c.1953T>A (p.Leu651=)
c.7887T>A (p.Leu2629=)
c.896-29929T>A
c.2718T>A (p.Leu906=)
c.7761T>A (p.Leu2587=)
n.1690T>A
c.7890T>A (p.Leu2630=)
2g.73489846T>CCA427000668ALMS1c.7506T>C (p.Leu2502=)
c.898T>C
c.4958T>C
c.1953T>C (p.Leu651=)
c.7887T>C (p.Leu2629=)
c.896-29929T>C
c.2718T>C (p.Leu906=)
c.7761T>C (p.Leu2587=)
n.1690T>C
c.7890T>C (p.Leu2630=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73489846T>GCA427000669ALMS1c.7506T>G (p.Leu2502=)
c.898T>G
c.4958T>G
c.1953T>G (p.Leu651=)
c.7887T>G (p.Leu2629=)
c.896-29929T>G
c.2718T>G (p.Leu906=)
c.7761T>G (p.Leu2587=)
n.1690T>G
c.7890T>G (p.Leu2630=)
 ClinVar dbSNP
2g.73489846T=CA1260981191ALMS1c.7506T= (p.Leu2502=)
c.898T=
c.4958T=
c.1953T= (p.Leu651=)
c.7887T= (p.Leu2629=)
c.896-29929T=
c.2718T= (p.Leu906=)
c.7761T= (p.Leu2587=)
n.1690T=
c.7890T= (p.Leu2630=)
2g.73489847T>ACA347266185ALMS1c.7507T>A (p.Ser2503Thr)
c.899T>A
c.4959T>A
c.1954T>A (p.Ser652Thr)
c.7888T>A (p.Ser2630Thr)
c.896-29928T>A
c.2719T>A (p.Ser907Thr)
c.7762T>A (p.Ser2588Thr)
n.1691T>A
c.7891T>A (p.Ser2631Thr)
2g.73489847T>CCA347266187ALMS1c.7507T>C (p.Ser2503Pro)
c.899T>C
c.4959T>C
c.1954T>C (p.Ser652Pro)
c.7888T>C (p.Ser2630Pro)
c.896-29928T>C
c.2719T>C (p.Ser907Pro)
c.7762T>C (p.Ser2588Pro)
n.1691T>C
c.7891T>C (p.Ser2631Pro)
2g.73489847T>GCA347266190ALMS1c.7507T>G (p.Ser2503Ala)
c.899T>G
c.4959T>G
c.1954T>G (p.Ser652Ala)
c.7888T>G (p.Ser2630Ala)
c.896-29928T>G
c.2719T>G (p.Ser907Ala)
c.7762T>G (p.Ser2588Ala)
n.1691T>G
c.7891T>G (p.Ser2631Ala)
 ClinVar dbSNP
2g.73489847T=CA1260981192ALMS1c.7507T= (p.Ser2503=)
c.899T=
c.4959T=
c.1954T= (p.Ser652=)
c.7888T= (p.Ser2630=)
c.896-29928T=
c.2719T= (p.Ser907=)
c.7762T= (p.Ser2588=)
n.1691T=
c.7891T= (p.Ser2631=)
2g.73489848C>ACA347266192ALMS1c.7508C>A (p.Ser2503Tyr)
c.900C>A
c.4960C>A
c.1955C>A (p.Ser652Tyr)
c.7889C>A (p.Ser2630Tyr)
c.896-29927C>A
c.2720C>A (p.Ser907Tyr)
c.7763C>A (p.Ser2588Tyr)
n.1692C>A
c.7892C>A (p.Ser2631Tyr)
2g.73489848C=CA1260981193ALMS1c.7508C= (p.Ser2503=)
c.900C=
c.4960C=
c.1955C= (p.Ser652=)
c.7889C= (p.Ser2630=)
c.896-29927C=
c.2720C= (p.Ser907=)
c.7763C= (p.Ser2588=)
n.1692C=
c.7892C= (p.Ser2631=)
2g.73489848C>GCA1714365ALMS1c.7508C>G (p.Ser2503Cys)
c.900C>G
c.4960C>G
c.1955C>G (p.Ser652Cys)
c.7889C>G (p.Ser2630Cys)
c.896-29927C>G
c.2720C>G (p.Ser907Cys)
c.7763C>G (p.Ser2588Cys)
n.1692C>G
c.7892C>G (p.Ser2631Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489848C>TCA347266194ALMS1c.7508C>T (p.Ser2503Phe)
c.900C>T
c.4960C>T
c.1955C>T (p.Ser652Phe)
c.7889C>T (p.Ser2630Phe)
c.896-29927C>T
c.2720C>T (p.Ser907Phe)
c.7763C>T (p.Ser2588Phe)
n.1692C>T
c.7892C>T (p.Ser2631Phe)
 dbSNP gnomAD v4
2g.73489849T>ACA427000670ALMS1c.7509T>A (p.Ser2503=)
c.901T>A
c.4961T>A
c.1956T>A (p.Ser652=)
c.7890T>A (p.Ser2630=)
c.896-29926T>A
c.2721T>A (p.Ser907=)
c.7764T>A (p.Ser2588=)
n.1693T>A
c.7893T>A (p.Ser2631=)
2g.73489849T>CCA427000671ALMS1c.7509T>C (p.Ser2503=)
c.901T>C
c.4961T>C
c.1956T>C (p.Ser652=)
c.7890T>C (p.Ser2630=)
c.896-29926T>C
c.2721T>C (p.Ser907=)
c.7764T>C (p.Ser2588=)
n.1693T>C
c.7893T>C (p.Ser2631=)
 ClinVar
2g.73489849T>GCA427000672ALMS1c.7509T>G (p.Ser2503=)
c.901T>G
c.4961T>G
c.1956T>G (p.Ser652=)
c.7890T>G (p.Ser2630=)
c.896-29926T>G
c.2721T>G (p.Ser907=)
c.7764T>G (p.Ser2588=)
n.1693T>G
c.7893T>G (p.Ser2631=)
 gnomAD v4
2g.73489850G>ACA347266196ALMS1c.7510G>A (p.Ala2504Thr)
c.902G>A
c.4962G>A
c.1957G>A (p.Ala653Thr)
c.7891G>A (p.Ala2631Thr)
c.896-29925G>A
c.2722G>A (p.Ala908Thr)
c.7765G>A (p.Ala2589Thr)
n.1694G>A
c.7894G>A (p.Ala2632Thr)
2g.73489850G>CCA347266201ALMS1c.7510G>C (p.Ala2504Pro)
c.902G>C
c.4962G>C
c.1957G>C (p.Ala653Pro)
c.7891G>C (p.Ala2631Pro)
c.896-29925G>C
c.2722G>C (p.Ala908Pro)
c.7765G>C (p.Ala2589Pro)
n.1694G>C
c.7894G>C (p.Ala2632Pro)
2g.73489850G>TCA347266198ALMS1c.7510G>T (p.Ala2504Ser)
c.902G>T
c.4962G>T
c.1957G>T (p.Ala653Ser)
c.7891G>T (p.Ala2631Ser)
c.896-29925G>T
c.2722G>T (p.Ala908Ser)
c.7765G>T (p.Ala2589Ser)
n.1694G>T
c.7894G>T (p.Ala2632Ser)
 gnomAD v4
2g.73489851C>ACA347266205ALMS1c.7511C>A (p.Ala2504Glu)
c.903C>A
c.4963C>A
c.1958C>A (p.Ala653Glu)
c.7892C>A (p.Ala2631Glu)
c.896-29924C>A
c.2723C>A (p.Ala908Glu)
c.7766C>A (p.Ala2589Glu)
n.1695C>A
c.7895C>A (p.Ala2632Glu)
2g.73489851C=CA1260981194ALMS1c.7511C= (p.Ala2504=)
c.903C=
c.4963C=
c.1958C= (p.Ala653=)
c.7892C= (p.Ala2631=)
c.896-29924C=
c.2723C= (p.Ala908=)
c.7766C= (p.Ala2589=)
n.1695C=
c.7895C= (p.Ala2632=)
2g.73489851C>GCA347266206ALMS1c.7511C>G (p.Ala2504Gly)
c.903C>G
c.4963C>G
c.1958C>G (p.Ala653Gly)
c.7892C>G (p.Ala2631Gly)
c.896-29924C>G
c.2723C>G (p.Ala908Gly)
c.7766C>G (p.Ala2589Gly)
n.1695C>G
c.7895C>G (p.Ala2632Gly)
2g.73489851C>TCA50377645ALMS1c.7511C>T (p.Ala2504Val)
c.903C>T
c.4963C>T
c.1958C>T (p.Ala653Val)
c.7892C>T (p.Ala2631Val)
c.896-29924C>T
c.2723C>T (p.Ala908Val)
c.7766C>T (p.Ala2589Val)
n.1695C>T
c.7895C>T (p.Ala2632Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489852A>CCA427000675ALMS1c.7512A>C (p.Ala2504=)
c.904A>C
c.4964A>C
c.1959A>C (p.Ala653=)
c.7893A>C (p.Ala2631=)
c.896-29923A>C
c.2724A>C (p.Ala908=)
c.7767A>C (p.Ala2589=)
n.1696A>C
c.7896A>C (p.Ala2632=)
 ClinVar dbSNP gnomAD v4
2g.73489852A>GCA427000673ALMS1c.7512A>G (p.Ala2504=)
c.904A>G
c.4964A>G
c.1959A>G (p.Ala653=)
c.7893A>G (p.Ala2631=)
c.896-29923A>G
c.2724A>G (p.Ala908=)
c.7767A>G (p.Ala2589=)
n.1696A>G
c.7896A>G (p.Ala2632=)
2g.73489852A>TCA427000674ALMS1c.7512A>T (p.Ala2504=)
c.904A>T
c.4964A>T
c.1959A>T (p.Ala653=)
c.7893A>T (p.Ala2631=)
c.896-29923A>T
c.2724A>T (p.Ala908=)
c.7767A>T (p.Ala2589=)
n.1696A>T
c.7896A>T (p.Ala2632=)
 gnomAD v4
2g.73489853T>ACA347266208ALMS1c.7513T>A (p.Ser2505Thr)
c.905T>A
c.4965T>A
c.1960T>A (p.Ser654Thr)
c.7894T>A (p.Ser2632Thr)
c.896-29922T>A
c.2725T>A (p.Ser909Thr)
c.7768T>A (p.Ser2590Thr)
n.1697T>A
c.7897T>A (p.Ser2633Thr)
2g.73489853T>CCA347266210ALMS1c.7513T>C (p.Ser2505Pro)
c.905T>C
c.4965T>C
c.1960T>C (p.Ser654Pro)
c.7894T>C (p.Ser2632Pro)
c.896-29922T>C
c.2725T>C (p.Ser909Pro)
c.7768T>C (p.Ser2590Pro)
n.1697T>C
c.7897T>C (p.Ser2633Pro)
2g.73489853T>GCA347266213ALMS1c.7513T>G (p.Ser2505Ala)
c.905T>G
c.4965T>G
c.1960T>G (p.Ser654Ala)
c.7894T>G (p.Ser2632Ala)
c.896-29922T>G
c.2725T>G (p.Ser909Ala)
c.7768T>G (p.Ser2590Ala)
n.1697T>G
c.7897T>G (p.Ser2633Ala)
2g.73489854C>ACA347266214ALMS1c.7514C>A (p.Ser2505Tyr)
c.906C>A
c.4966C>A
c.1961C>A (p.Ser654Tyr)
c.7895C>A (p.Ser2632Tyr)
c.896-29921C>A
c.2726C>A (p.Ser909Tyr)
c.7769C>A (p.Ser2590Tyr)
n.1698C>A
c.7898C>A (p.Ser2633Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.73489854C=CA1260981195ALMS1c.7514C= (p.Ser2505=)
c.906C=
c.4966C=
c.1961C= (p.Ser654=)
c.7895C= (p.Ser2632=)
c.896-29921C=
c.2726C= (p.Ser909=)
c.7769C= (p.Ser2590=)
n.1698C=
c.7898C= (p.Ser2633=)
2g.73489854C>GCA347266215ALMS1c.7514C>G (p.Ser2505Cys)
c.906C>G
c.4966C>G
c.1961C>G (p.Ser654Cys)
c.7895C>G (p.Ser2632Cys)
c.896-29921C>G
c.2726C>G (p.Ser909Cys)
c.7769C>G (p.Ser2590Cys)
n.1698C>G
c.7898C>G (p.Ser2633Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.73489854C>TCA347266216ALMS1c.7514C>T (p.Ser2505Phe)
c.906C>T
c.4966C>T
c.1961C>T (p.Ser654Phe)
c.7895C>T (p.Ser2632Phe)
c.896-29921C>T
c.2726C>T (p.Ser909Phe)
c.7769C>T (p.Ser2590Phe)
n.1698C>T
c.7898C>T (p.Ser2633Phe)
2g.73489854_73489855insTATAAGCACCTATGAGCA1260981196ALMS1c.7514_7515insTATAAGCACCTATGAG (p.Leu2506IlefsTer33)
c.906_907insTATAAGCACCTATGAG
c.4966_4967insTATAAGCACCTATGAG
c.1961_1962insTATAAGCACCTATGAG (p.Leu655IlefsTer33)
c.7895_7896insTATAAGCACCTATGAG (p.Leu2633IlefsTer33)
c.896-29921_896-29920insTATAAGCACCTATGAG
c.2726_2727insTATAAGCACCTATGAG (p.Leu910IlefsTer33)
c.7769_7770insTATAAGCACCTATGAG (p.Leu2591IlefsTer33)
n.1698_1699insTATAAGCACCTATGAG
c.7898_7899insTATAAGCACCTATGAG (p.Leu2634IlefsTer33)
 dbSNP
2g.73489855C>ACA427000676ALMS1c.7515C>A (p.Ser2505=)
c.907C>A
c.4967C>A
c.1962C>A (p.Ser654=)
c.7896C>A (p.Ser2632=)
c.896-29920C>A
c.2727C>A (p.Ser909=)
c.7770C>A (p.Ser2590=)
n.1699C>A
c.7899C>A (p.Ser2633=)
2g.73489855C>GCA427000677ALMS1c.7515C>G (p.Ser2505=)
c.907C>G
c.4967C>G
c.1962C>G (p.Ser654=)
c.7896C>G (p.Ser2632=)
c.896-29920C>G
c.2727C>G (p.Ser909=)
c.7770C>G (p.Ser2590=)
n.1699C>G
c.7899C>G (p.Ser2633=)
2g.73489855C>TCA427000678ALMS1c.7515C>T (p.Ser2505=)
c.907C>T
c.4967C>T
c.1962C>T (p.Ser654=)
c.7896C>T (p.Ser2632=)
c.896-29920C>T
c.2727C>T (p.Ser909=)
c.7770C>T (p.Ser2590=)
n.1699C>T
c.7899C>T (p.Ser2633=)
 gnomAD v4
2g.73489856T>ACA347266217ALMS1c.7516T>A (p.Leu2506Ile)
c.908T>A
c.4968T>A
c.1963T>A (p.Leu655Ile)
c.7897T>A (p.Leu2633Ile)
c.896-29919T>A
c.2728T>A (p.Leu910Ile)
c.7771T>A (p.Leu2591Ile)
n.1700T>A
c.7900T>A (p.Leu2634Ile)
2g.73489856T>CCA427000679ALMS1c.7516T>C (p.Leu2506=)
c.908T>C
c.4968T>C
c.1963T>C (p.Leu655=)
c.7897T>C (p.Leu2633=)
c.896-29919T>C
c.2728T>C (p.Leu910=)
c.7771T>C (p.Leu2591=)
n.1700T>C
c.7900T>C (p.Leu2634=)
2g.73489856T>GCA347266219ALMS1c.7516T>G (p.Leu2506Val)
c.908T>G
c.4968T>G
c.1963T>G (p.Leu655Val)
c.7897T>G (p.Leu2633Val)
c.896-29919T>G
c.2728T>G (p.Leu910Val)
c.7771T>G (p.Leu2591Val)
n.1700T>G
c.7900T>G (p.Leu2634Val)
2g.73489857T>ACA347266224ALMS1c.7517T>A (p.Leu2506Ter)
c.909T>A
c.4969T>A
c.1964T>A (p.Leu655Ter)
c.7898T>A (p.Leu2633Ter)
c.896-29918T>A
c.2729T>A (p.Leu910Ter)
c.7772T>A (p.Leu2591Ter)
n.1701T>A
c.7901T>A (p.Leu2634Ter)
 ClinVar
2g.73489857T>CCA347266227ALMS1c.7517T>C (p.Leu2506Ser)
c.909T>C
c.4969T>C
c.1964T>C (p.Leu655Ser)
c.7898T>C (p.Leu2633Ser)
c.896-29918T>C
c.2729T>C (p.Leu910Ser)
c.7772T>C (p.Leu2591Ser)
n.1701T>C
c.7901T>C (p.Leu2634Ser)
 ClinVar dbSNP
2g.73489857T>GCA347266221ALMS1c.7517T>G (p.Leu2506Ter)
c.909T>G
c.4969T>G
c.1964T>G (p.Leu655Ter)
c.7898T>G (p.Leu2633Ter)
c.896-29918T>G
c.2729T>G (p.Leu910Ter)
c.7772T>G (p.Leu2591Ter)
n.1701T>G
c.7901T>G (p.Leu2634Ter)
2g.73489858A>CCA347266232ALMS1c.7518A>C (p.Leu2506Phe)
c.910A>C
c.4970A>C
c.1965A>C (p.Leu655Phe)
c.7899A>C (p.Leu2633Phe)
c.896-29917A>C
c.2730A>C (p.Leu910Phe)
c.7773A>C (p.Leu2591Phe)
n.1702A>C
c.7902A>C (p.Leu2634Phe)
2g.73489858A>GCA427000680ALMS1c.7518A>G (p.Leu2506=)
c.910A>G
c.4970A>G
c.1965A>G (p.Leu655=)
c.7899A>G (p.Leu2633=)
c.896-29917A>G
c.2730A>G (p.Leu910=)
c.7773A>G (p.Leu2591=)
n.1702A>G
c.7902A>G (p.Leu2634=)
 gnomAD v4
2g.73489858A>TCA347266229ALMS1c.7518A>T (p.Leu2506Phe)
c.910A>T
c.4970A>T
c.1965A>T (p.Leu655Phe)
c.7899A>T (p.Leu2633Phe)
c.896-29917A>T
c.2730A>T (p.Leu910Phe)
c.7773A>T (p.Leu2591Phe)
n.1702A>T
c.7902A>T (p.Leu2634Phe)
2g.73489859G>ACA347266239ALMS1c.7519G>A (p.Asp2507Asn)
c.911G>A
c.4971G>A
c.1966G>A (p.Asp656Asn)
c.7900G>A (p.Asp2634Asn)
c.896-29916G>A
c.2731G>A (p.Asp911Asn)
c.7774G>A (p.Asp2592Asn)
n.1703G>A
c.7903G>A (p.Asp2635Asn)
2g.73489859G>CCA347266235ALMS1c.7519G>C (p.Asp2507His)
c.911G>C
c.4971G>C
c.1966G>C (p.Asp656His)
c.7900G>C (p.Asp2634His)
c.896-29916G>C
c.2731G>C (p.Asp911His)
c.7774G>C (p.Asp2592His)
n.1703G>C
c.7903G>C (p.Asp2635His)
 gnomAD v4
2g.73489859G=CA1260981197ALMS1c.7519G= (p.Asp2507=)
c.911G=
c.4971G=
c.1966G= (p.Asp656=)
c.7900G= (p.Asp2634=)
c.896-29916G=
c.2731G= (p.Asp911=)
c.7774G= (p.Asp2592=)
n.1703G=
c.7903G= (p.Asp2635=)
2g.73489859G>TCA1714366ALMS1c.7519G>T (p.Asp2507Tyr)
c.911G>T
c.4971G>T
c.1966G>T (p.Asp656Tyr)
c.7900G>T (p.Asp2634Tyr)
c.896-29916G>T
c.2731G>T (p.Asp911Tyr)
c.7774G>T (p.Asp2592Tyr)
n.1703G>T
c.7903G>T (p.Asp2635Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489860A=CA1260981198ALMS1c.7520A= (p.Asp2507=)
c.912A=
c.4972A=
c.1967A= (p.Asp656=)
c.7901A= (p.Asp2634=)
c.896-29915A=
c.2732A= (p.Asp911=)
c.7775A= (p.Asp2592=)
n.1704A=
c.7904A= (p.Asp2635=)
2g.73489860A>CCA347266242ALMS1c.7520A>C (p.Asp2507Ala)
c.912A>C
c.4972A>C
c.1967A>C (p.Asp656Ala)
c.7901A>C (p.Asp2634Ala)
c.896-29915A>C
c.2732A>C (p.Asp911Ala)
c.7775A>C (p.Asp2592Ala)
n.1704A>C
c.7904A>C (p.Asp2635Ala)
2g.73489860A>GCA347266244ALMS1c.7520A>G (p.Asp2507Gly)
c.912A>G
c.4972A>G
c.1967A>G (p.Asp656Gly)
c.7901A>G (p.Asp2634Gly)
c.896-29915A>G
c.2732A>G (p.Asp911Gly)
c.7775A>G (p.Asp2592Gly)
n.1704A>G
c.7904A>G (p.Asp2635Gly)
 ClinVar dbSNP gnomAD v4
2g.73489860A>TCA347266245ALMS1c.7520A>T (p.Asp2507Val)
c.912A>T
c.4972A>T
c.1967A>T (p.Asp656Val)
c.7901A>T (p.Asp2634Val)
c.896-29915A>T
c.2732A>T (p.Asp911Val)
c.7775A>T (p.Asp2592Val)
n.1704A>T
c.7904A>T (p.Asp2635Val)
 dbSNP
2g.73489861C>ACA347266249ALMS1c.7521C>A (p.Asp2507Glu)
c.913C>A
c.4973C>A
c.1968C>A (p.Asp656Glu)
c.7902C>A (p.Asp2634Glu)
c.896-29914C>A
c.2733C>A (p.Asp911Glu)
c.7776C>A (p.Asp2592Glu)
n.1705C>A
c.7905C>A (p.Asp2635Glu)
2g.73489861C=CA1260981199ALMS1c.7521C= (p.Asp2507=)
c.913C=
c.4973C=
c.1968C= (p.Asp656=)
c.7902C= (p.Asp2634=)
c.896-29914C=
c.2733C= (p.Asp911=)
c.7776C= (p.Asp2592=)
n.1705C=
c.7905C= (p.Asp2635=)
2g.73489861C>GCA1714367ALMS1c.7521C>G (p.Asp2507Glu)
c.913C>G
c.4973C>G
c.1968C>G (p.Asp656Glu)
c.7902C>G (p.Asp2634Glu)
c.896-29914C>G
c.2733C>G (p.Asp911Glu)
c.7776C>G (p.Asp2592Glu)
n.1705C>G
c.7905C>G (p.Asp2635Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489861C>TCA1714368ALMS1c.7521C>T (p.Asp2507=)
c.913C>T
c.4973C>T
c.1968C>T (p.Asp656=)
c.7902C>T (p.Asp2634=)
c.896-29914C>T
c.2733C>T (p.Asp911=)
c.7776C>T (p.Asp2592=)
n.1705C>T
c.7905C>T (p.Asp2635=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489862C>ACA347266257ALMS1c.7522C>A (p.Gln2508Lys)
c.914C>A
c.4974C>A
c.1969C>A (p.Gln657Lys)
c.7903C>A (p.Gln2635Lys)
c.896-29913C>A
c.2734C>A (p.Gln912Lys)
c.7777C>A (p.Gln2593Lys)
n.1706C>A
c.7906C>A (p.Gln2636Lys)
2g.73489862C>GCA347266259ALMS1c.7522C>G (p.Gln2508Glu)
c.914C>G
c.4974C>G
c.1969C>G (p.Gln657Glu)
c.7903C>G (p.Gln2635Glu)
c.896-29913C>G
c.2734C>G (p.Gln912Glu)
c.7777C>G (p.Gln2593Glu)
n.1706C>G
c.7906C>G (p.Gln2636Glu)
 gnomAD v4
2g.73489862C>TCA347266262ALMS1c.7522C>T (p.Gln2508Ter)
c.914C>T
c.4974C>T
c.1969C>T (p.Gln657Ter)
c.7903C>T (p.Gln2635Ter)
c.896-29913C>T
c.2734C>T (p.Gln912Ter)
c.7777C>T (p.Gln2593Ter)
n.1706C>T
c.7906C>T (p.Gln2636Ter)
2g.73489863A>CCA347266264ALMS1c.7523A>C (p.Gln2508Pro)
c.915A>C
c.4975A>C
c.1970A>C (p.Gln657Pro)
c.7904A>C (p.Gln2635Pro)
c.896-29912A>C
c.2735A>C (p.Gln912Pro)
c.7778A>C (p.Gln2593Pro)
n.1707A>C
c.7907A>C (p.Gln2636Pro)
 gnomAD v4
2g.73489863A>GCA347266267ALMS1c.7523A>G (p.Gln2508Arg)
c.915A>G
c.4975A>G
c.1970A>G (p.Gln657Arg)
c.7904A>G (p.Gln2635Arg)
c.896-29912A>G
c.2735A>G (p.Gln912Arg)
c.7778A>G (p.Gln2593Arg)
n.1707A>G
c.7907A>G (p.Gln2636Arg)
 ClinVar
2g.73489863A>TCA347266270ALMS1c.7523A>T (p.Gln2508Leu)
c.915A>T
c.4975A>T
c.1970A>T (p.Gln657Leu)
c.7904A>T (p.Gln2635Leu)
c.896-29912A>T
c.2735A>T (p.Gln912Leu)
c.7778A>T (p.Gln2593Leu)
n.1707A>T
c.7907A>T (p.Gln2636Leu)
2g.73489864G>ACA427000681ALMS1c.7524G>A (p.Gln2508=)
c.916G>A
c.4976G>A
c.1971G>A (p.Gln657=)
c.7905G>A (p.Gln2635=)
c.896-29911G>A
c.2736G>A (p.Gln912=)
c.7779G>A (p.Gln2593=)
n.1708G>A
c.7908G>A (p.Gln2636=)
2g.73489864G>CCA347266274ALMS1c.7524G>C (p.Gln2508His)
c.916G>C
c.4976G>C
c.1971G>C (p.Gln657His)
c.7905G>C (p.Gln2635His)
c.896-29911G>C
c.2736G>C (p.Gln912His)
c.7779G>C (p.Gln2593His)
n.1708G>C
c.7908G>C (p.Gln2636His)
2g.73489864G>TCA347266275ALMS1c.7524G>T (p.Gln2508His)
c.916G>T
c.4976G>T
c.1971G>T (p.Gln657His)
c.7905G>T (p.Gln2635His)
c.896-29911G>T
c.2736G>T (p.Gln912His)
c.7779G>T (p.Gln2593His)
n.1708G>T
c.7908G>T (p.Gln2636His)
2g.73489865A>CCA347266279ALMS1c.7525A>C (p.Asn2509His)
c.917A>C
c.4977A>C
c.1972A>C (p.Asn658His)
c.7906A>C (p.Asn2636His)
c.896-29910A>C
c.2737A>C (p.Asn913His)
c.7780A>C (p.Asn2594His)
n.1709A>C
c.7909A>C (p.Asn2637His)
2g.73489865A>GCA347266282ALMS1c.7525A>G (p.Asn2509Asp)
c.917A>G
c.4977A>G
c.1972A>G (p.Asn658Asp)
c.7906A>G (p.Asn2636Asp)
c.896-29910A>G
c.2737A>G (p.Asn913Asp)
c.7780A>G (p.Asn2594Asp)
n.1709A>G
c.7909A>G (p.Asn2637Asp)
2g.73489865A>TCA347266284ALMS1c.7525A>T (p.Asn2509Tyr)
c.917A>T
c.4977A>T
c.1972A>T (p.Asn658Tyr)
c.7906A>T (p.Asn2636Tyr)
c.896-29910A>T
c.2737A>T (p.Asn913Tyr)
c.7780A>T (p.Asn2594Tyr)
n.1709A>T
c.7909A>T (p.Asn2637Tyr)
2g.73489868_73489870delCA2750465613ALMS1c.7528_7530del (p.Asn2510del)
c.920_922del
c.4980_4982del
c.1975_1977del (p.Asn659del)
c.7909_7911del (p.Asn2637del)
c.896-29907_896-29905del
c.2740_2742del (p.Asn914del)
c.7783_7785del (p.Asn2595del)
n.1712_1714del
c.7912_7914del (p.Asn2638del)
2g.73489866A=CA1260981200ALMS1c.7526A= (p.Asn2509=)
c.918A=
c.4978A=
c.1973A= (p.Asn658=)
c.7907A= (p.Asn2636=)
c.896-29909A=
c.2738A= (p.Asn913=)
c.7781A= (p.Asn2594=)
n.1710A=
c.7910A= (p.Asn2637=)
2g.73489866A>CCA1714369ALMS1c.7526A>C (p.Asn2509Thr)
c.918A>C
c.4978A>C
c.1973A>C (p.Asn658Thr)
c.7907A>C (p.Asn2636Thr)
c.896-29909A>C
c.2738A>C (p.Asn913Thr)
c.7781A>C (p.Asn2594Thr)
n.1710A>C
c.7910A>C (p.Asn2637Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489866A>GCA347266285ALMS1c.7526A>G (p.Asn2509Ser)
c.918A>G
c.4978A>G
c.1973A>G (p.Asn658Ser)
c.7907A>G (p.Asn2636Ser)
c.896-29909A>G
c.2738A>G (p.Asn913Ser)
c.7781A>G (p.Asn2594Ser)
n.1710A>G
c.7910A>G (p.Asn2637Ser)
 dbSNP gnomAD v4
2g.73489866A>TCA347266286ALMS1c.7526A>T (p.Asn2509Ile)
c.918A>T
c.4978A>T
c.1973A>T (p.Asn658Ile)
c.7907A>T (p.Asn2636Ile)
c.896-29909A>T
c.2738A>T (p.Asn913Ile)
c.7781A>T (p.Asn2594Ile)
n.1710A>T
c.7910A>T (p.Asn2637Ile)
2g.73489867C>ACA347266287ALMS1c.7527C>A (p.Asn2509Lys)
c.919C>A
c.4979C>A
c.1974C>A (p.Asn658Lys)
c.7908C>A (p.Asn2636Lys)
c.896-29908C>A
c.2739C>A (p.Asn913Lys)
c.7782C>A (p.Asn2594Lys)
n.1711C>A
c.7911C>A (p.Asn2637Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.73489867C=CA1260981201ALMS1c.7527C= (p.Asn2509=)
c.919C=
c.4979C=
c.1974C= (p.Asn658=)
c.7908C= (p.Asn2636=)
c.896-29908C=
c.2739C= (p.Asn913=)
c.7782C= (p.Asn2594=)
n.1711C=
c.7911C= (p.Asn2637=)
2g.73489867C>GCA347266288ALMS1c.7527C>G (p.Asn2509Lys)
c.919C>G
c.4979C>G
c.1974C>G (p.Asn658Lys)
c.7908C>G (p.Asn2636Lys)
c.896-29908C>G
c.2739C>G (p.Asn913Lys)
c.7782C>G (p.Asn2594Lys)
n.1711C>G
c.7911C>G (p.Asn2637Lys)
 gnomAD v4
2g.73489867C>TCA427000682ALMS1c.7527C>T (p.Asn2509=)
c.919C>T
c.4979C>T
c.1974C>T (p.Asn658=)
c.7908C>T (p.Asn2636=)
c.896-29908C>T
c.2739C>T (p.Asn913=)
c.7782C>T (p.Asn2594=)
n.1711C>T
c.7911C>T (p.Asn2637=)
 ClinVar
2g.73489867dupCA2586969427ALMS1c.7527dup (p.Asn2510GlnfsTer24)
c.919dup
c.4979dup
c.1974dup (p.Asn659GlnfsTer24)
c.7908dup (p.Asn2637GlnfsTer24)
c.896-29908dup
c.2739dup (p.Asn914GlnfsTer24)
c.7782dup (p.Asn2595GlnfsTer24)
n.1711dup
c.7911dup (p.Asn2638GlnfsTer24)
2g.73489868A>CCA347266289ALMS1c.7528A>C (p.Asn2510His)
c.920A>C
c.4980A>C
c.1975A>C (p.Asn659His)
c.7909A>C (p.Asn2637His)
c.896-29907A>C
c.2740A>C (p.Asn914His)
c.7783A>C (p.Asn2595His)
n.1712A>C
c.7912A>C (p.Asn2638His)
 gnomAD v4
2g.73489868A>GCA347266291ALMS1c.7528A>G (p.Asn2510Asp)
c.920A>G
c.4980A>G
c.1975A>G (p.Asn659Asp)
c.7909A>G (p.Asn2637Asp)
c.896-29907A>G
c.2740A>G (p.Asn914Asp)
c.7783A>G (p.Asn2595Asp)
n.1712A>G
c.7912A>G (p.Asn2638Asp)
2g.73489868A>TCA347266294ALMS1c.7528A>T (p.Asn2510Tyr)
c.920A>T
c.4980A>T
c.1975A>T (p.Asn659Tyr)
c.7909A>T (p.Asn2637Tyr)
c.896-29907A>T
c.2740A>T (p.Asn914Tyr)
c.7783A>T (p.Asn2595Tyr)
n.1712A>T
c.7912A>T (p.Asn2638Tyr)
2g.73489869A>CCA347266301ALMS1c.7529A>C (p.Asn2510Thr)
c.921A>C
c.4981A>C
c.1976A>C (p.Asn659Thr)
c.7910A>C (p.Asn2637Thr)
c.896-29906A>C
c.2741A>C (p.Asn914Thr)
c.7784A>C (p.Asn2595Thr)
n.1713A>C
c.7913A>C (p.Asn2638Thr)
2g.73489869A>GCA347266300ALMS1c.7529A>G (p.Asn2510Ser)
c.921A>G
c.4981A>G
c.1976A>G (p.Asn659Ser)
c.7910A>G (p.Asn2637Ser)
c.896-29906A>G
c.2741A>G (p.Asn914Ser)
c.7784A>G (p.Asn2595Ser)
n.1713A>G
c.7913A>G (p.Asn2638Ser)
2g.73489869A>TCA347266299ALMS1c.7529A>T (p.Asn2510Ile)
c.921A>T
c.4981A>T
c.1976A>T (p.Asn659Ile)
c.7910A>T (p.Asn2637Ile)
c.896-29906A>T
c.2741A>T (p.Asn914Ile)
c.7784A>T (p.Asn2595Ile)
n.1713A>T
c.7913A>T (p.Asn2638Ile)
2g.73489870C>ACA347266303ALMS1c.7530C>A (p.Asn2510Lys)
c.922C>A
c.4982C>A
c.1977C>A (p.Asn659Lys)
c.7911C>A (p.Asn2637Lys)
c.896-29905C>A
c.2742C>A (p.Asn914Lys)
c.7785C>A (p.Asn2595Lys)
n.1714C>A
c.7914C>A (p.Asn2638Lys)
2g.73489870C=CA1260981202ALMS1c.7530C= (p.Asn2510=)
c.922C=
c.4982C=
c.1977C= (p.Asn659=)
c.7911C= (p.Asn2637=)
c.896-29905C=
c.2742C= (p.Asn914=)
c.7785C= (p.Asn2595=)
n.1714C=
c.7914C= (p.Asn2638=)
2g.73489870C>GCA1714371ALMS1c.7530C>G (p.Asn2510Lys)
c.922C>G
c.4982C>G
c.1977C>G (p.Asn659Lys)
c.7911C>G (p.Asn2637Lys)
c.896-29905C>G
c.2742C>G (p.Asn914Lys)
c.7785C>G (p.Asn2595Lys)
n.1714C>G
c.7914C>G (p.Asn2638Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489870C>TCA1714370ALMS1c.7530C>T (p.Asn2510=)
c.922C>T
c.4982C>T
c.1977C>T (p.Asn659=)
c.7911C>T (p.Asn2637=)
c.896-29905C>T
c.2742C>T (p.Asn914=)
c.7785C>T (p.Asn2595=)
n.1714C>T
c.7914C>T (p.Asn2638=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489871T>ACA1714372ALMS1c.7531T>A (p.Ser2511Thr)
c.923T>A
c.4983T>A
c.1978T>A (p.Ser660Thr)
c.7912T>A (p.Ser2638Thr)
c.896-29904T>A
c.2743T>A (p.Ser915Thr)
c.7786T>A (p.Ser2596Thr)
n.1715T>A
c.7915T>A (p.Ser2639Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489871T>CCA347266311ALMS1c.7531T>C (p.Ser2511Pro)
c.923T>C
c.4983T>C
c.1978T>C (p.Ser660Pro)
c.7912T>C (p.Ser2638Pro)
c.896-29904T>C
c.2743T>C (p.Ser915Pro)
c.7786T>C (p.Ser2596Pro)
n.1715T>C
c.7915T>C (p.Ser2639Pro)
2g.73489871T>GCA347266313ALMS1c.7531T>G (p.Ser2511Ala)
c.923T>G
c.4983T>G
c.1978T>G (p.Ser660Ala)
c.7912T>G (p.Ser2638Ala)
c.896-29904T>G
c.2743T>G (p.Ser915Ala)
c.7786T>G (p.Ser2596Ala)
n.1715T>G
c.7915T>G (p.Ser2639Ala)
2g.73489871T=CA1260981203ALMS1c.7531T= (p.Ser2511=)
c.923T=
c.4983T=
c.1978T= (p.Ser660=)
c.7912T= (p.Ser2638=)
c.896-29904T=
c.2743T= (p.Ser915=)
c.7786T= (p.Ser2596=)
n.1715T=
c.7915T= (p.Ser2639=)
2g.73489872C>ACA1714373ALMS1c.7532C>A (p.Ser2511Tyr)
c.924C>A
c.4984C>A
c.1979C>A (p.Ser660Tyr)
c.7913C>A (p.Ser2638Tyr)
c.896-29903C>A
c.2744C>A (p.Ser915Tyr)
c.7787C>A (p.Ser2596Tyr)
n.1716C>A
c.7916C>A (p.Ser2639Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489872C=CA1260981204ALMS1c.7532C= (p.Ser2511=)
c.924C=
c.4984C=
c.1979C= (p.Ser660=)
c.7913C= (p.Ser2638=)
c.896-29903C=
c.2744C= (p.Ser915=)
c.7787C= (p.Ser2596=)
n.1716C=
c.7916C= (p.Ser2639=)
2g.73489872C>GCA347266317ALMS1c.7532C>G (p.Ser2511Cys)
c.924C>G
c.4984C>G
c.1979C>G (p.Ser660Cys)
c.7913C>G (p.Ser2638Cys)
c.896-29903C>G
c.2744C>G (p.Ser915Cys)
c.7787C>G (p.Ser2596Cys)
n.1716C>G
c.7916C>G (p.Ser2639Cys)
2g.73489872C>TCA347266320ALMS1c.7532C>T (p.Ser2511Phe)
c.924C>T
c.4984C>T
c.1979C>T (p.Ser660Phe)
c.7913C>T (p.Ser2638Phe)
c.896-29903C>T
c.2744C>T (p.Ser915Phe)
c.7787C>T (p.Ser2596Phe)
n.1716C>T
c.7916C>T (p.Ser2639Phe)
2g.73489873C>ACA427000685ALMS1c.7533C>A (p.Ser2511=)
c.925C>A
c.4985C>A
c.1980C>A (p.Ser660=)
c.7914C>A (p.Ser2638=)
c.896-29902C>A
c.2745C>A (p.Ser915=)
c.7788C>A (p.Ser2596=)
n.1717C>A
c.7917C>A (p.Ser2639=)
2g.73489873C>GCA427000683ALMS1c.7533C>G (p.Ser2511=)
c.925C>G
c.4985C>G
c.1980C>G (p.Ser660=)
c.7914C>G (p.Ser2638=)
c.896-29902C>G
c.2745C>G (p.Ser915=)
c.7788C>G (p.Ser2596=)
n.1717C>G
c.7917C>G (p.Ser2639=)
2g.73489873C>TCA427000684ALMS1c.7533C>T (p.Ser2511=)
c.925C>T
c.4985C>T
c.1980C>T (p.Ser660=)
c.7914C>T (p.Ser2638=)
c.896-29902C>T
c.2745C>T (p.Ser915=)
c.7788C>T (p.Ser2596=)
n.1717C>T
c.7917C>T (p.Ser2639=)
 gnomAD v4
2g.73489874C>ACA347266323ALMS1c.7534C>A (p.His2512Asn)
c.926C>A
c.4986C>A
c.1981C>A (p.His661Asn)
c.7915C>A (p.His2639Asn)
c.896-29901C>A
c.2746C>A (p.His916Asn)
c.7789C>A (p.His2597Asn)
n.1718C>A
c.7918C>A (p.His2640Asn)
2g.73489874C>GCA347266327ALMS1c.7534C>G (p.His2512Asp)
c.926C>G
c.4986C>G
c.1981C>G (p.His661Asp)
c.7915C>G (p.His2639Asp)
c.896-29901C>G
c.2746C>G (p.His916Asp)
c.7789C>G (p.His2597Asp)
n.1718C>G
c.7918C>G (p.His2640Asp)
2g.73489874C>TCA347266330ALMS1c.7534C>T (p.His2512Tyr)
c.926C>T
c.4986C>T
c.1981C>T (p.His661Tyr)
c.7915C>T (p.His2639Tyr)
c.896-29901C>T
c.2746C>T (p.His916Tyr)
c.7789C>T (p.His2597Tyr)
n.1718C>T
c.7918C>T (p.His2640Tyr)
2g.73489875A>CCA347266339ALMS1c.7535A>C (p.His2512Pro)
c.927A>C
c.4987A>C
c.1982A>C (p.His661Pro)
c.7916A>C (p.His2639Pro)
c.896-29900A>C
c.2747A>C (p.His916Pro)
c.7790A>C (p.His2597Pro)
n.1719A>C
c.7919A>C (p.His2640Pro)
2g.73489875A>GCA347266336ALMS1c.7535A>G (p.His2512Arg)
c.927A>G
c.4987A>G
c.1982A>G (p.His661Arg)
c.7916A>G (p.His2639Arg)
c.896-29900A>G
c.2747A>G (p.His916Arg)
c.7790A>G (p.His2597Arg)
n.1719A>G
c.7919A>G (p.His2640Arg)
 gnomAD v4
2g.73489875A>TCA347266334ALMS1c.7535A>T (p.His2512Leu)
c.927A>T
c.4987A>T
c.1982A>T (p.His661Leu)
c.7916A>T (p.His2639Leu)
c.896-29900A>T
c.2747A>T (p.His916Leu)
c.7790A>T (p.His2597Leu)
n.1719A>T
c.7919A>T (p.His2640Leu)
2g.73489876T>ACA347266341ALMS1c.7536T>A (p.His2512Gln)
c.928T>A
c.4988T>A
c.1983T>A (p.His661Gln)
c.7917T>A (p.His2639Gln)
c.896-29899T>A
c.2748T>A (p.His916Gln)
c.7791T>A (p.His2597Gln)
n.1720T>A
c.7920T>A (p.His2640Gln)
2g.73489876T>CCA427000686ALMS1c.7536T>C (p.His2512=)
c.928T>C
c.4988T>C
c.1983T>C (p.His661=)
c.7917T>C (p.His2639=)
c.896-29899T>C
c.2748T>C (p.His916=)
c.7791T>C (p.His2597=)
n.1720T>C
c.7920T>C (p.His2640=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73489876T>GCA347266343ALMS1c.7536T>G (p.His2512Gln)
c.928T>G
c.4988T>G
c.1983T>G (p.His661Gln)
c.7917T>G (p.His2639Gln)
c.896-29899T>G
c.2748T>G (p.His916Gln)
c.7791T>G (p.His2597Gln)
n.1720T>G
c.7920T>G (p.His2640Gln)
2g.73489876T=CA1260981205ALMS1c.7536T= (p.His2512=)
c.928T=
c.4988T=
c.1983T= (p.His661=)
c.7917T= (p.His2639=)
c.896-29899T=
c.2748T= (p.His916=)
c.7791T= (p.His2597=)
n.1720T=
c.7920T= (p.His2640=)
2g.73489877T>ACA347266346ALMS1c.7537T>A (p.Phe2513Ile)
c.929T>A
c.4989T>A
c.1984T>A (p.Phe662Ile)
c.7918T>A (p.Phe2640Ile)
c.896-29898T>A
c.2749T>A (p.Phe917Ile)
c.7792T>A (p.Phe2598Ile)
n.1721T>A
c.7921T>A (p.Phe2641Ile)
2g.73489877T>CCA347266349ALMS1c.7537T>C (p.Phe2513Leu)
c.929T>C
c.4989T>C
c.1984T>C (p.Phe662Leu)
c.7918T>C (p.Phe2640Leu)
c.896-29898T>C
c.2749T>C (p.Phe917Leu)
c.7792T>C (p.Phe2598Leu)
n.1721T>C
c.7921T>C (p.Phe2641Leu)
2g.73489877T>GCA347266352ALMS1c.7537T>G (p.Phe2513Val)
c.929T>G
c.4989T>G
c.1984T>G (p.Phe662Val)
c.7918T>G (p.Phe2640Val)
c.896-29898T>G
c.2749T>G (p.Phe917Val)
c.7792T>G (p.Phe2598Val)
n.1721T>G
c.7921T>G (p.Phe2641Val)
2g.73489878T>ACA347266354ALMS1c.7538T>A (p.Phe2513Tyr)
c.930T>A
c.4990T>A
c.1985T>A (p.Phe662Tyr)
c.7919T>A (p.Phe2640Tyr)
c.896-29897T>A
c.2750T>A (p.Phe917Tyr)
c.7793T>A (p.Phe2598Tyr)
n.1722T>A
c.7922T>A (p.Phe2641Tyr)
2g.73489878T>CCA347266356ALMS1c.7538T>C (p.Phe2513Ser)
c.930T>C
c.4990T>C
c.1985T>C (p.Phe662Ser)
c.7919T>C (p.Phe2640Ser)
c.896-29897T>C
c.2750T>C (p.Phe917Ser)
c.7793T>C (p.Phe2598Ser)
n.1722T>C
c.7922T>C (p.Phe2641Ser)
2g.73489878T>GCA347266358ALMS1c.7538T>G (p.Phe2513Cys)
c.930T>G
c.4990T>G
c.1985T>G (p.Phe662Cys)
c.7919T>G (p.Phe2640Cys)
c.896-29897T>G
c.2750T>G (p.Phe917Cys)
c.7793T>G (p.Phe2598Cys)
n.1722T>G
c.7922T>G (p.Phe2641Cys)
2g.73489879C>ACA347266361ALMS1c.7539C>A (p.Phe2513Leu)
c.931C>A
c.4991C>A
c.1986C>A (p.Phe662Leu)
c.7920C>A (p.Phe2640Leu)
c.896-29896C>A
c.2751C>A (p.Phe917Leu)
c.7794C>A (p.Phe2598Leu)
n.1723C>A
c.7923C>A (p.Phe2641Leu)
2g.73489879C>GCA347266363ALMS1c.7539C>G (p.Phe2513Leu)
c.931C>G
c.4991C>G
c.1986C>G (p.Phe662Leu)
c.7920C>G (p.Phe2640Leu)
c.896-29896C>G
c.2751C>G (p.Phe917Leu)
c.7794C>G (p.Phe2598Leu)
n.1723C>G
c.7923C>G (p.Phe2641Leu)
 gnomAD v4
2g.73489879C>TCA427000687ALMS1c.7539C>T (p.Phe2513=)
c.931C>T
c.4991C>T
c.1986C>T (p.Phe662=)
c.7920C>T (p.Phe2640=)
c.896-29896C>T
c.2751C>T (p.Phe917=)
c.7794C>T (p.Phe2598=)
n.1723C>T
c.7923C>T (p.Phe2641=)
2g.73489880A>CCA347266366ALMS1c.7540A>C (p.Lys2514Gln)
c.932A>C
c.4992A>C
c.1987A>C (p.Lys663Gln)
c.7921A>C (p.Lys2641Gln)
c.896-29895A>C
c.2752A>C (p.Lys918Gln)
c.7795A>C (p.Lys2599Gln)
n.1724A>C
c.7924A>C (p.Lys2642Gln)
2g.73489880A>GCA347266369ALMS1c.7540A>G (p.Lys2514Glu)
c.932A>G
c.4992A>G
c.1987A>G (p.Lys663Glu)
c.7921A>G (p.Lys2641Glu)
c.896-29895A>G
c.2752A>G (p.Lys918Glu)
c.7795A>G (p.Lys2599Glu)
n.1724A>G
c.7924A>G (p.Lys2642Glu)
2g.73489880A>TCA347266372ALMS1c.7540A>T (p.Lys2514Ter)
c.932A>T
c.4992A>T
c.1987A>T (p.Lys663Ter)
c.7921A>T (p.Lys2641Ter)
c.896-29895A>T
c.2752A>T (p.Lys918Ter)
c.7795A>T (p.Lys2599Ter)
n.1724A>T
c.7924A>T (p.Lys2642Ter)
2g.73489881A>CCA347266378ALMS1c.7541A>C (p.Lys2514Thr)
c.933A>C
c.4993A>C
c.1988A>C (p.Lys663Thr)
c.7922A>C (p.Lys2641Thr)
c.896-29894A>C
c.2753A>C (p.Lys918Thr)
c.7796A>C (p.Lys2599Thr)
n.1725A>C
c.7925A>C (p.Lys2642Thr)
2g.73489881A>GCA347266375ALMS1c.7541A>G (p.Lys2514Arg)
c.933A>G
c.4993A>G
c.1988A>G (p.Lys663Arg)
c.7922A>G (p.Lys2641Arg)
c.896-29894A>G
c.2753A>G (p.Lys918Arg)
c.7796A>G (p.Lys2599Arg)
n.1725A>G
c.7925A>G (p.Lys2642Arg)
2g.73489881A>TCA347266374ALMS1c.7541A>T (p.Lys2514Ile)
c.933A>T
c.4993A>T
c.1988A>T (p.Lys663Ile)
c.7922A>T (p.Lys2641Ile)
c.896-29894A>T
c.2753A>T (p.Lys918Ile)
c.7796A>T (p.Lys2599Ile)
n.1725A>T
c.7925A>T (p.Lys2642Ile)
2g.73489882A=CA1260981206ALMS1c.7542A= (p.Lys2514=)
c.934A=
c.4994A=
c.1989A= (p.Lys663=)
c.7923A= (p.Lys2641=)
c.896-29893A=
c.2754A= (p.Lys918=)
c.7797A= (p.Lys2599=)
n.1726A=
c.7926A= (p.Lys2642=)
2g.73489882A>CCA1714374ALMS1c.7542A>C (p.Lys2514Asn)
c.934A>C
c.4994A>C
c.1989A>C (p.Lys663Asn)
c.7923A>C (p.Lys2641Asn)
c.896-29893A>C
c.2754A>C (p.Lys918Asn)
c.7797A>C (p.Lys2599Asn)
n.1726A>C
c.7926A>C (p.Lys2642Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489882A>GCA427000689ALMS1c.7542A>G (p.Lys2514=)
c.934A>G
c.4994A>G
c.1989A>G (p.Lys663=)
c.7923A>G (p.Lys2641=)
c.896-29893A>G
c.2754A>G (p.Lys918=)
c.7797A>G (p.Lys2599=)
n.1726A>G
c.7926A>G (p.Lys2642=)
 gnomAD v4
2g.73489882A>TCA347266381ALMS1c.7542A>T (p.Lys2514Asn)
c.934A>T
c.4994A>T
c.1989A>T (p.Lys663Asn)
c.7923A>T (p.Lys2641Asn)
c.896-29893A>T
c.2754A>T (p.Lys918Asn)
c.7797A>T (p.Lys2599Asn)
n.1726A>T
c.7926A>T (p.Lys2642Asn)
2g.73489883G>ACA1714375ALMS1c.7543G>A (p.Val2515Ile)
c.935G>A
c.4995G>A
c.1990G>A (p.Val664Ile)
c.7924G>A (p.Val2642Ile)
c.896-29892G>A
c.2755G>A (p.Val919Ile)
c.7798G>A (p.Val2600Ile)
n.1727G>A
c.7927G>A (p.Val2643Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489883G>CCA347266386ALMS1c.7543G>C (p.Val2515Leu)
c.935G>C
c.4995G>C
c.1990G>C (p.Val664Leu)
c.7924G>C (p.Val2642Leu)
c.896-29892G>C
c.2755G>C (p.Val919Leu)
c.7798G>C (p.Val2600Leu)
n.1727G>C
c.7927G>C (p.Val2643Leu)
2g.73489883G=CA1260981207ALMS1c.7543G= (p.Val2515=)
c.935G=
c.4995G=
c.1990G= (p.Val664=)
c.7924G= (p.Val2642=)
c.896-29892G=
c.2755G= (p.Val919=)
c.7798G= (p.Val2600=)
n.1727G=
c.7927G= (p.Val2643=)
2g.73489883G>TCA347266388ALMS1c.7543G>T (p.Val2515Phe)
c.935G>T
c.4995G>T
c.1990G>T (p.Val664Phe)
c.7924G>T (p.Val2642Phe)
c.896-29892G>T
c.2755G>T (p.Val919Phe)
c.7798G>T (p.Val2600Phe)
n.1727G>T
c.7927G>T (p.Val2643Phe)
2g.73489884T>ACA347266394ALMS1c.7544T>A (p.Val2515Asp)
c.936T>A
c.4996T>A
c.1991T>A (p.Val664Asp)
c.7925T>A (p.Val2642Asp)
c.896-29891T>A
c.2756T>A (p.Val919Asp)
c.7799T>A (p.Val2600Asp)
n.1728T>A
c.7928T>A (p.Val2643Asp)
2g.73489884T>CCA347266396ALMS1c.7544T>C (p.Val2515Ala)
c.936T>C
c.4996T>C
c.1991T>C (p.Val664Ala)
c.7925T>C (p.Val2642Ala)
c.896-29891T>C
c.2756T>C (p.Val919Ala)
c.7799T>C (p.Val2600Ala)
n.1728T>C
c.7928T>C (p.Val2643Ala)
2g.73489884T>GCA347266398ALMS1c.7544T>G (p.Val2515Gly)
c.936T>G
c.4996T>G
c.1991T>G (p.Val664Gly)
c.7925T>G (p.Val2642Gly)
c.896-29891T>G
c.2756T>G (p.Val919Gly)
c.7799T>G (p.Val2600Gly)
n.1728T>G
c.7928T>G (p.Val2643Gly)

Number of alleles fetched