Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.73489885T>ACA427000690ALMS1c.7545T>A (p.Val2515=)
c.937T>A
c.4997T>A
c.1992T>A (p.Val664=)
c.7926T>A (p.Val2642=)
c.896-29890T>A
c.2757T>A (p.Val919=)
c.7800T>A (p.Val2600=)
n.1729T>A
c.7929T>A (p.Val2643=)
 ClinVar dbSNP
2g.73489885T>CCA1714376ALMS1c.7545T>C (p.Val2515=)
c.937T>C
c.4997T>C
c.1992T>C (p.Val664=)
c.7926T>C (p.Val2642=)
c.896-29890T>C
c.2757T>C (p.Val919=)
c.7800T>C (p.Val2600=)
n.1729T>C
c.7929T>C (p.Val2643=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489885T>GCA427000691ALMS1c.7545T>G (p.Val2515=)
c.937T>G
c.4997T>G
c.1992T>G (p.Val664=)
c.7926T>G (p.Val2642=)
c.896-29890T>G
c.2757T>G (p.Val919=)
c.7800T>G (p.Val2600=)
n.1729T>G
c.7929T>G (p.Val2643=)
2g.73489885T=CA1260981208ALMS1c.7545T= (p.Val2515=)
c.937T=
c.4997T=
c.1992T= (p.Val664=)
c.7926T= (p.Val2642=)
c.896-29890T=
c.2757T= (p.Val919=)
c.7800T= (p.Val2600=)
n.1729T=
c.7929T= (p.Val2643=)
2g.73489886T>ACA347266399ALMS1c.7546T>A (p.Trp2516Arg)
c.938T>A
c.4998T>A
c.1993T>A (p.Trp665Arg)
c.7927T>A (p.Trp2643Arg)
c.896-29889T>A
c.2758T>A (p.Trp920Arg)
c.7801T>A (p.Trp2601Arg)
n.1730T>A
c.7930T>A (p.Trp2644Arg)
2g.73489886T>CCA347266400ALMS1c.7546T>C (p.Trp2516Arg)
c.938T>C
c.4998T>C
c.1993T>C (p.Trp665Arg)
c.7927T>C (p.Trp2643Arg)
c.896-29889T>C
c.2758T>C (p.Trp920Arg)
c.7801T>C (p.Trp2601Arg)
n.1730T>C
c.7930T>C (p.Trp2644Arg)
 ClinVar dbSNP
2g.73489886T>GCA347266401ALMS1c.7546T>G (p.Trp2516Gly)
c.938T>G
c.4998T>G
c.1993T>G (p.Trp665Gly)
c.7927T>G (p.Trp2643Gly)
c.896-29889T>G
c.2758T>G (p.Trp920Gly)
c.7801T>G (p.Trp2601Gly)
n.1730T>G
c.7930T>G (p.Trp2644Gly)
2g.73489886T=CA1260981209ALMS1c.7546T= (p.Trp2516=)
c.938T=
c.4998T=
c.1993T= (p.Trp665=)
c.7927T= (p.Trp2643=)
c.896-29889T=
c.2758T= (p.Trp920=)
c.7801T= (p.Trp2601=)
n.1730T=
c.7930T= (p.Trp2644=)
2g.73489887G>ACA347266402ALMS1c.7547G>A (p.Trp2516Ter)
c.939G>A
c.4999G>A
c.1994G>A (p.Trp665Ter)
c.7928G>A (p.Trp2643Ter)
c.896-29888G>A
c.2759G>A (p.Trp920Ter)
c.7802G>A (p.Trp2601Ter)
n.1731G>A
c.7931G>A (p.Trp2644Ter)
2g.73489887G>CCA347266404ALMS1c.7547G>C (p.Trp2516Ser)
c.939G>C
c.4999G>C
c.1994G>C (p.Trp665Ser)
c.7928G>C (p.Trp2643Ser)
c.896-29888G>C
c.2759G>C (p.Trp920Ser)
c.7802G>C (p.Trp2601Ser)
n.1731G>C
c.7931G>C (p.Trp2644Ser)
2g.73489887G>TCA347266407ALMS1c.7547G>T (p.Trp2516Leu)
c.939G>T
c.4999G>T
c.1994G>T (p.Trp665Leu)
c.7928G>T (p.Trp2643Leu)
c.896-29888G>T
c.2759G>T (p.Trp920Leu)
c.7802G>T (p.Trp2601Leu)
n.1731G>T
c.7931G>T (p.Trp2644Leu)
 gnomAD v4
2g.73489888G>ACA347266412ALMS1c.7548G>A (p.Trp2516Ter)
c.940G>A
c.5000G>A
c.1995G>A (p.Trp665Ter)
c.7929G>A (p.Trp2643Ter)
c.896-29887G>A
c.2760G>A (p.Trp920Ter)
c.7803G>A (p.Trp2601Ter)
n.1732G>A
c.7932G>A (p.Trp2644Ter)
2g.73489888G>CCA347266409ALMS1c.7548G>C (p.Trp2516Cys)
c.940G>C
c.5000G>C
c.1995G>C (p.Trp665Cys)
c.7929G>C (p.Trp2643Cys)
c.896-29887G>C
c.2760G>C (p.Trp920Cys)
c.7803G>C (p.Trp2601Cys)
n.1732G>C
c.7932G>C (p.Trp2644Cys)
2g.73489888G>TCA347266410ALMS1c.7548G>T (p.Trp2516Cys)
c.940G>T
c.5000G>T
c.1995G>T (p.Trp665Cys)
c.7929G>T (p.Trp2643Cys)
c.896-29887G>T
c.2760G>T (p.Trp920Cys)
c.7803G>T (p.Trp2601Cys)
n.1732G>T
c.7932G>T (p.Trp2644Cys)
 gnomAD v4
2g.73489889A=CA1260981210ALMS1c.7549A= (p.Asn2517=)
c.941A=
c.5001A=
c.1996A= (p.Asn666=)
c.7930A= (p.Asn2644=)
c.896-29886A=
c.2761A= (p.Asn921=)
c.7804A= (p.Asn2602=)
n.1733A=
c.7933A= (p.Asn2645=)
2g.73489889A>CCA1714377ALMS1c.7549A>C (p.Asn2517His)
c.941A>C
c.5001A>C
c.1996A>C (p.Asn666His)
c.7930A>C (p.Asn2644His)
c.896-29886A>C
c.2761A>C (p.Asn921His)
c.7804A>C (p.Asn2602His)
n.1733A>C
c.7933A>C (p.Asn2645His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489889A>GCA347266416ALMS1c.7549A>G (p.Asn2517Asp)
c.941A>G
c.5001A>G
c.1996A>G (p.Asn666Asp)
c.7930A>G (p.Asn2644Asp)
c.896-29886A>G
c.2761A>G (p.Asn921Asp)
c.7804A>G (p.Asn2602Asp)
n.1733A>G
c.7933A>G (p.Asn2645Asp)
2g.73489889A>TCA347266417ALMS1c.7549A>T (p.Asn2517Tyr)
c.941A>T
c.5001A>T
c.1996A>T (p.Asn666Tyr)
c.7930A>T (p.Asn2644Tyr)
c.896-29886A>T
c.2761A>T (p.Asn921Tyr)
c.7804A>T (p.Asn2602Tyr)
n.1733A>T
c.7933A>T (p.Asn2645Tyr)
2g.73489890A>CCA347266420ALMS1c.7550A>C (p.Asn2517Thr)
c.942A>C
c.5002A>C
c.1997A>C (p.Asn666Thr)
c.7931A>C (p.Asn2644Thr)
c.896-29885A>C
c.2762A>C (p.Asn921Thr)
c.7805A>C (p.Asn2602Thr)
n.1734A>C
c.7934A>C (p.Asn2645Thr)
2g.73489890A>GCA347266422ALMS1c.7550A>G (p.Asn2517Ser)
c.942A>G
c.5002A>G
c.1997A>G (p.Asn666Ser)
c.7931A>G (p.Asn2644Ser)
c.896-29885A>G
c.2762A>G (p.Asn921Ser)
c.7805A>G (p.Asn2602Ser)
n.1734A>G
c.7934A>G (p.Asn2645Ser)
2g.73489890A>TCA347266424ALMS1c.7550A>T (p.Asn2517Ile)
c.942A>T
c.5002A>T
c.1997A>T (p.Asn666Ile)
c.7931A>T (p.Asn2644Ile)
c.896-29885A>T
c.2762A>T (p.Asn921Ile)
c.7805A>T (p.Asn2602Ile)
n.1734A>T
c.7934A>T (p.Asn2645Ile)
2g.73489891T>ACA347266427ALMS1c.7551T>A (p.Asn2517Lys)
c.943T>A
c.5003T>A
c.1998T>A (p.Asn666Lys)
c.7932T>A (p.Asn2644Lys)
c.896-29884T>A
c.2763T>A (p.Asn921Lys)
c.7806T>A (p.Asn2602Lys)
n.1735T>A
c.7935T>A (p.Asn2645Lys)
2g.73489891T>CCA427000693ALMS1c.7551T>C (p.Asn2517=)
c.943T>C
c.5003T>C
c.1998T>C (p.Asn666=)
c.7932T>C (p.Asn2644=)
c.896-29884T>C
c.2763T>C (p.Asn921=)
c.7806T>C (p.Asn2602=)
n.1735T>C
c.7935T>C (p.Asn2645=)
 gnomAD v4
2g.73489891T>GCA347266429ALMS1c.7551T>G (p.Asn2517Lys)
c.943T>G
c.5003T>G
c.1998T>G (p.Asn666Lys)
c.7932T>G (p.Asn2644Lys)
c.896-29884T>G
c.2763T>G (p.Asn921Lys)
c.7806T>G (p.Asn2602Lys)
n.1735T>G
c.7935T>G (p.Asn2645Lys)
2g.73489892T>ACA347266431ALMS1c.7552T>A (p.Ser2518Thr)
c.944T>A
c.5004T>A
c.1999T>A (p.Ser667Thr)
c.7933T>A (p.Ser2645Thr)
c.896-29883T>A
c.2764T>A (p.Ser922Thr)
c.7807T>A (p.Ser2603Thr)
n.1736T>A
c.7936T>A (p.Ser2646Thr)
2g.73489892T>CCA347266433ALMS1c.7552T>C (p.Ser2518Pro)
c.944T>C
c.5004T>C
c.1999T>C (p.Ser667Pro)
c.7933T>C (p.Ser2645Pro)
c.896-29883T>C
c.2764T>C (p.Ser922Pro)
c.7807T>C (p.Ser2603Pro)
n.1736T>C
c.7936T>C (p.Ser2646Pro)
2g.73489892T>GCA347266435ALMS1c.7552T>G (p.Ser2518Ala)
c.944T>G
c.5004T>G
c.1999T>G (p.Ser667Ala)
c.7933T>G (p.Ser2645Ala)
c.896-29883T>G
c.2764T>G (p.Ser922Ala)
c.7807T>G (p.Ser2603Ala)
n.1736T>G
c.7936T>G (p.Ser2646Ala)
2g.73489893C>ACA347266440ALMS1c.7553C>A (p.Ser2518Tyr)
c.945C>A
c.5005C>A
c.2000C>A (p.Ser667Tyr)
c.7934C>A (p.Ser2645Tyr)
c.896-29882C>A
c.2765C>A (p.Ser922Tyr)
c.7808C>A (p.Ser2603Tyr)
n.1737C>A
c.7937C>A (p.Ser2646Tyr)
2g.73489893C>GCA347266442ALMS1c.7553C>G (p.Ser2518Cys)
c.945C>G
c.5005C>G
c.2000C>G (p.Ser667Cys)
c.7934C>G (p.Ser2645Cys)
c.896-29882C>G
c.2765C>G (p.Ser922Cys)
c.7808C>G (p.Ser2603Cys)
n.1737C>G
c.7937C>G (p.Ser2646Cys)
2g.73489893C>TCA347266438ALMS1c.7553C>T (p.Ser2518Phe)
c.945C>T
c.5005C>T
c.2000C>T (p.Ser667Phe)
c.7934C>T (p.Ser2645Phe)
c.896-29882C>T
c.2765C>T (p.Ser922Phe)
c.7808C>T (p.Ser2603Phe)
n.1737C>T
c.7937C>T (p.Ser2646Phe)
2g.73489894delCA2659619827ALMS1c.7554del (p.Leu2519CysfsTer3)
c.946del
c.5006del
c.2001del (p.Leu668CysfsTer3)
c.7935del (p.Leu2646CysfsTer3)
c.896-29881del
c.2766del (p.Leu923CysfsTer3)
c.7809del (p.Leu2604CysfsTer3)
n.1738del
c.7938del (p.Leu2647CysfsTer3)
 gnomAD v4
2g.73489894C>ACA427000694ALMS1c.7554C>A (p.Ser2518=)
c.946C>A
c.5006C>A
c.2001C>A (p.Ser667=)
c.7935C>A (p.Ser2645=)
c.896-29881C>A
c.2766C>A (p.Ser922=)
c.7809C>A (p.Ser2603=)
n.1738C>A
c.7938C>A (p.Ser2646=)
2g.73489894C>GCA427000695ALMS1c.7554C>G (p.Ser2518=)
c.946C>G
c.5006C>G
c.2001C>G (p.Ser667=)
c.7935C>G (p.Ser2645=)
c.896-29881C>G
c.2766C>G (p.Ser922=)
c.7809C>G (p.Ser2603=)
n.1738C>G
c.7938C>G (p.Ser2646=)
2g.73489894C>TCA427000696ALMS1c.7554C>T (p.Ser2518=)
c.946C>T
c.5006C>T
c.2001C>T (p.Ser667=)
c.7935C>T (p.Ser2645=)
c.896-29881C>T
c.2766C>T (p.Ser922=)
c.7809C>T (p.Ser2603=)
n.1738C>T
c.7938C>T (p.Ser2646=)
 ClinVar dbSNP
2g.73489895T>ACA347266444ALMS1c.7555T>A (p.Leu2519Met)
c.947T>A
c.5007T>A
c.2002T>A (p.Leu668Met)
c.7936T>A (p.Leu2646Met)
c.896-29880T>A
c.2767T>A (p.Leu923Met)
c.7810T>A (p.Leu2604Met)
n.1739T>A
c.7939T>A (p.Leu2647Met)
2g.73489895T>CCA427000697ALMS1c.7555T>C (p.Leu2519=)
c.947T>C
c.5007T>C
c.2002T>C (p.Leu668=)
c.7936T>C (p.Leu2646=)
c.896-29880T>C
c.2767T>C (p.Leu923=)
c.7810T>C (p.Leu2604=)
n.1739T>C
c.7939T>C (p.Leu2647=)
2g.73489895T>GCA347266446ALMS1c.7555T>G (p.Leu2519Val)
c.947T>G
c.5007T>G
c.2002T>G (p.Leu668Val)
c.7936T>G (p.Leu2646Val)
c.896-29880T>G
c.2767T>G (p.Leu923Val)
c.7810T>G (p.Leu2604Val)
n.1739T>G
c.7939T>G (p.Leu2647Val)
2g.73489896T>ACA347266449ALMS1c.7556T>A (p.Leu2519Ter)
c.948T>A
c.5008T>A
c.2003T>A (p.Leu668Ter)
c.7937T>A (p.Leu2646Ter)
c.896-29879T>A
c.2768T>A (p.Leu923Ter)
c.7811T>A (p.Leu2604Ter)
n.1740T>A
c.7940T>A (p.Leu2647Ter)
2g.73489896T>CCA347266450ALMS1c.7556T>C (p.Leu2519Ser)
c.948T>C
c.5008T>C
c.2003T>C (p.Leu668Ser)
c.7937T>C (p.Leu2646Ser)
c.896-29879T>C
c.2768T>C (p.Leu923Ser)
c.7811T>C (p.Leu2604Ser)
n.1740T>C
c.7940T>C (p.Leu2647Ser)
2g.73489896T>GCA347266451ALMS1c.7556T>G (p.Leu2519Trp)
c.948T>G
c.5008T>G
c.2003T>G (p.Leu668Trp)
c.7937T>G (p.Leu2646Trp)
c.896-29879T>G
c.2768T>G (p.Leu923Trp)
c.7811T>G (p.Leu2604Trp)
n.1740T>G
c.7940T>G (p.Leu2647Trp)
2g.73489897G>ACA427000698ALMS1c.7557G>A (p.Leu2519=)
c.949G>A
c.5009G>A
c.2004G>A (p.Leu668=)
c.7938G>A (p.Leu2646=)
c.896-29878G>A
c.2769G>A (p.Leu923=)
c.7812G>A (p.Leu2604=)
n.1741G>A
c.7941G>A (p.Leu2647=)
2g.73489897G>CCA347266452ALMS1c.7557G>C (p.Leu2519Phe)
c.949G>C
c.5009G>C
c.2004G>C (p.Leu668Phe)
c.7938G>C (p.Leu2646Phe)
c.896-29878G>C
c.2769G>C (p.Leu923Phe)
c.7812G>C (p.Leu2604Phe)
n.1741G>C
c.7941G>C (p.Leu2647Phe)
2g.73489897G>TCA347266453ALMS1c.7557G>T (p.Leu2519Phe)
c.949G>T
c.5009G>T
c.2004G>T (p.Leu668Phe)
c.7938G>T (p.Leu2646Phe)
c.896-29878G>T
c.2769G>T (p.Leu923Phe)
c.7812G>T (p.Leu2604Phe)
n.1741G>T
c.7941G>T (p.Leu2647Phe)
2g.73489898C>ACA347266455ALMS1c.7558C>A (p.Gln2520Lys)
c.950C>A
c.5010C>A
c.2005C>A (p.Gln669Lys)
c.7939C>A (p.Gln2647Lys)
c.896-29877C>A
c.2770C>A (p.Gln924Lys)
c.7813C>A (p.Gln2605Lys)
n.1742C>A
c.7942C>A (p.Gln2648Lys)
2g.73489898C>GCA347266456ALMS1c.7558C>G (p.Gln2520Glu)
c.950C>G
c.5010C>G
c.2005C>G (p.Gln669Glu)
c.7939C>G (p.Gln2647Glu)
c.896-29877C>G
c.2770C>G (p.Gln924Glu)
c.7813C>G (p.Gln2605Glu)
n.1742C>G
c.7942C>G (p.Gln2648Glu)
2g.73489898C>TCA347266457ALMS1c.7558C>T (p.Gln2520Ter)
c.950C>T
c.5010C>T
c.2005C>T (p.Gln669Ter)
c.7939C>T (p.Gln2647Ter)
c.896-29877C>T
c.2770C>T (p.Gln924Ter)
c.7813C>T (p.Gln2605Ter)
n.1742C>T
c.7942C>T (p.Gln2648Ter)
2g.73489899A>CCA347266461ALMS1c.7559A>C (p.Gln2520Pro)
c.951A>C
c.5011A>C
c.2006A>C (p.Gln669Pro)
c.7940A>C (p.Gln2647Pro)
c.896-29876A>C
c.2771A>C (p.Gln924Pro)
c.7814A>C (p.Gln2605Pro)
n.1743A>C
c.7943A>C (p.Gln2648Pro)
2g.73489899A>GCA347266464ALMS1c.7559A>G (p.Gln2520Arg)
c.951A>G
c.5011A>G
c.2006A>G (p.Gln669Arg)
c.7940A>G (p.Gln2647Arg)
c.896-29876A>G
c.2771A>G (p.Gln924Arg)
c.7814A>G (p.Gln2605Arg)
n.1743A>G
c.7943A>G (p.Gln2648Arg)
 ClinVar dbSNP gnomAD v4
2g.73489899A>TCA347266465ALMS1c.7559A>T (p.Gln2520Leu)
c.951A>T
c.5011A>T
c.2006A>T (p.Gln669Leu)
c.7940A>T (p.Gln2647Leu)
c.896-29876A>T
c.2771A>T (p.Gln924Leu)
c.7814A>T (p.Gln2605Leu)
n.1743A>T
c.7943A>T (p.Gln2648Leu)
 gnomAD v4
2g.73489900G>ACA427000699ALMS1c.7560G>A (p.Gln2520=)
c.952G>A
c.5012G>A
c.2007G>A (p.Gln669=)
c.7941G>A (p.Gln2647=)
c.896-29875G>A
c.2772G>A (p.Gln924=)
c.7815G>A (p.Gln2605=)
n.1744G>A
c.7944G>A (p.Gln2648=)
2g.73489900G>CCA347266470ALMS1c.7560G>C (p.Gln2520His)
c.952G>C
c.5012G>C
c.2007G>C (p.Gln669His)
c.7941G>C (p.Gln2647His)
c.896-29875G>C
c.2772G>C (p.Gln924His)
c.7815G>C (p.Gln2605His)
n.1744G>C
c.7944G>C (p.Gln2648His)
2g.73489900G>TCA347266467ALMS1c.7560G>T (p.Gln2520His)
c.952G>T
c.5012G>T
c.2007G>T (p.Gln669His)
c.7941G>T (p.Gln2647His)
c.896-29875G>T
c.2772G>T (p.Gln924His)
c.7815G>T (p.Gln2605His)
n.1744G>T
c.7944G>T (p.Gln2648His)
 gnomAD v4
2g.73489901T>ACA347266472ALMS1c.7561T>A (p.Leu2521Ile)
c.953T>A
c.5013T>A
c.2008T>A (p.Leu670Ile)
c.7942T>A (p.Leu2648Ile)
c.896-29874T>A
c.2773T>A (p.Leu925Ile)
c.7816T>A (p.Leu2606Ile)
n.1745T>A
c.7945T>A (p.Leu2649Ile)
2g.73489901T>CCA427000700ALMS1c.7561T>C (p.Leu2521=)
c.953T>C
c.5013T>C
c.2008T>C (p.Leu670=)
c.7942T>C (p.Leu2648=)
c.896-29874T>C
c.2773T>C (p.Leu925=)
c.7816T>C (p.Leu2606=)
n.1745T>C
c.7945T>C (p.Leu2649=)
2g.73489901T>GCA347266474ALMS1c.7561T>G (p.Leu2521Val)
c.953T>G
c.5013T>G
c.2008T>G (p.Leu670Val)
c.7942T>G (p.Leu2648Val)
c.896-29874T>G
c.2773T>G (p.Leu925Val)
c.7816T>G (p.Leu2606Val)
n.1745T>G
c.7945T>G (p.Leu2649Val)
2g.73489902T>ACA347266477ALMS1c.7562T>A (p.Leu2521Ter)
c.954T>A
c.5014T>A
c.2009T>A (p.Leu670Ter)
c.7943T>A (p.Leu2648Ter)
c.896-29873T>A
c.2774T>A (p.Leu925Ter)
c.7817T>A (p.Leu2606Ter)
n.1746T>A
c.7946T>A (p.Leu2649Ter)
2g.73489902T>CCA347266480ALMS1c.7562T>C (p.Leu2521Ser)
c.954T>C
c.5014T>C
c.2009T>C (p.Leu670Ser)
c.7943T>C (p.Leu2648Ser)
c.896-29873T>C
c.2774T>C (p.Leu925Ser)
c.7817T>C (p.Leu2606Ser)
n.1746T>C
c.7946T>C (p.Leu2649Ser)
2g.73489902T>GCA1714378ALMS1c.7562T>G (p.Leu2521Ter)
c.954T>G
c.5014T>G
c.2009T>G (p.Leu670Ter)
c.7943T>G (p.Leu2648Ter)
c.896-29873T>G
c.2774T>G (p.Leu925Ter)
c.7817T>G (p.Leu2606Ter)
n.1746T>G
c.7946T>G (p.Leu2649Ter)
 dbSNP ExAC gnomAD v2
2g.73489902T=CA1260981211ALMS1c.7562T= (p.Leu2521=)
c.954T=
c.5014T=
c.2009T= (p.Leu670=)
c.7943T= (p.Leu2648=)
c.896-29873T=
c.2774T= (p.Leu925=)
c.7817T= (p.Leu2606=)
n.1746T=
c.7946T= (p.Leu2649=)
2g.73489903A=CA1260981212ALMS1c.7563A= (p.Leu2521=)
c.955A=
c.5015A=
c.2010A= (p.Leu670=)
c.7944A= (p.Leu2648=)
c.896-29872A=
c.2775A= (p.Leu925=)
c.7818A= (p.Leu2606=)
n.1747A=
c.7947A= (p.Leu2649=)
2g.73489903A>CCA347266486ALMS1c.7563A>C (p.Leu2521Phe)
c.955A>C
c.5015A>C
c.2010A>C (p.Leu670Phe)
c.7944A>C (p.Leu2648Phe)
c.896-29872A>C
c.2775A>C (p.Leu925Phe)
c.7818A>C (p.Leu2606Phe)
n.1747A>C
c.7947A>C (p.Leu2649Phe)
2g.73489903A>GCA427000701ALMS1c.7563A>G (p.Leu2521=)
c.955A>G
c.5015A>G
c.2010A>G (p.Leu670=)
c.7944A>G (p.Leu2648=)
c.896-29872A>G
c.2775A>G (p.Leu925=)
c.7818A>G (p.Leu2606=)
n.1747A>G
c.7947A>G (p.Leu2649=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73489903A>TCA347266489ALMS1c.7563A>T (p.Leu2521Phe)
c.955A>T
c.5015A>T
c.2010A>T (p.Leu670Phe)
c.7944A>T (p.Leu2648Phe)
c.896-29872A>T
c.2775A>T (p.Leu925Phe)
c.7818A>T (p.Leu2606Phe)
n.1747A>T
c.7947A>T (p.Leu2649Phe)
2g.73489907delCA2580068230ALMS1c.7567del (p.Ser2523ValfsTer?)
c.959del
c.5019del
c.2014del (p.Ser672ValfsTer?)
c.7948del (p.Ser2650ValfsTer?)
c.896-29868del
c.2779del (p.Ser927ValfsTer?)
c.7822del (p.Ser2608ValfsTer?)
n.1751del
c.7951del (p.Ser2651ValfsTer?)
 ClinVar
2g.73489904A>CCA347266491ALMS1c.7564A>C (p.Lys2522Gln)
c.956A>C
c.5016A>C
c.2011A>C (p.Lys671Gln)
c.7945A>C (p.Lys2649Gln)
c.896-29871A>C
c.2776A>C (p.Lys926Gln)
c.7819A>C (p.Lys2607Gln)
n.1748A>C
c.7948A>C (p.Lys2650Gln)
2g.73489904A>GCA347266497ALMS1c.7564A>G (p.Lys2522Glu)
c.956A>G
c.5016A>G
c.2011A>G (p.Lys671Glu)
c.7945A>G (p.Lys2649Glu)
c.896-29871A>G
c.2776A>G (p.Lys926Glu)
c.7819A>G (p.Lys2607Glu)
n.1748A>G
c.7948A>G (p.Lys2650Glu)
2g.73489904A>TCA347266495ALMS1c.7564A>T (p.Lys2522Ter)
c.956A>T
c.5016A>T
c.2011A>T (p.Lys671Ter)
c.7945A>T (p.Lys2649Ter)
c.896-29871A>T
c.2776A>T (p.Lys926Ter)
c.7819A>T (p.Lys2607Ter)
n.1748A>T
c.7948A>T (p.Lys2650Ter)
2g.73489905A>CCA347266500ALMS1c.7565A>C (p.Lys2522Thr)
c.957A>C
c.5017A>C
c.2012A>C (p.Lys671Thr)
c.7946A>C (p.Lys2649Thr)
c.896-29870A>C
c.2777A>C (p.Lys926Thr)
c.7820A>C (p.Lys2607Thr)
n.1749A>C
c.7949A>C (p.Lys2650Thr)
2g.73489905A>GCA347266503ALMS1c.7565A>G (p.Lys2522Arg)
c.957A>G
c.5017A>G
c.2012A>G (p.Lys671Arg)
c.7946A>G (p.Lys2649Arg)
c.896-29870A>G
c.2777A>G (p.Lys926Arg)
c.7820A>G (p.Lys2607Arg)
n.1749A>G
c.7949A>G (p.Lys2650Arg)
2g.73489905A>TCA347266507ALMS1c.7565A>T (p.Lys2522Ile)
c.957A>T
c.5017A>T
c.2012A>T (p.Lys671Ile)
c.7946A>T (p.Lys2649Ile)
c.896-29870A>T
c.2777A>T (p.Lys926Ile)
c.7820A>T (p.Lys2607Ile)
n.1749A>T
c.7949A>T (p.Lys2650Ile)
2g.73489906A>CCA347266509ALMS1c.7566A>C (p.Lys2522Asn)
c.958A>C
c.5018A>C
c.2013A>C (p.Lys671Asn)
c.7947A>C (p.Lys2649Asn)
c.896-29869A>C
c.2778A>C (p.Lys926Asn)
c.7821A>C (p.Lys2607Asn)
n.1750A>C
c.7950A>C (p.Lys2650Asn)
2g.73489906A>GCA427000702ALMS1c.7566A>G (p.Lys2522=)
c.958A>G
c.5018A>G
c.2013A>G (p.Lys671=)
c.7947A>G (p.Lys2649=)
c.896-29869A>G
c.2778A>G (p.Lys926=)
c.7821A>G (p.Lys2607=)
n.1750A>G
c.7950A>G (p.Lys2650=)
2g.73489906A>TCA347266512ALMS1c.7566A>T (p.Lys2522Asn)
c.958A>T
c.5018A>T
c.2013A>T (p.Lys671Asn)
c.7947A>T (p.Lys2649Asn)
c.896-29869A>T
c.2778A>T (p.Lys926Asn)
c.7821A>T (p.Lys2607Asn)
n.1750A>T
c.7950A>T (p.Lys2650Asn)
2g.73489907A=CA1260981213ALMS1c.7567A= (p.Ser2523=)
c.959A=
c.5019A=
c.2014A= (p.Ser672=)
c.7948A= (p.Ser2650=)
c.896-29868A=
c.2779A= (p.Ser927=)
c.7822A= (p.Ser2608=)
n.1751A=
c.7951A= (p.Ser2651=)
2g.73489907A>CCA347266516ALMS1c.7567A>C (p.Ser2523Arg)
c.959A>C
c.5019A>C
c.2014A>C (p.Ser672Arg)
c.7948A>C (p.Ser2650Arg)
c.896-29868A>C
c.2779A>C (p.Ser927Arg)
c.7822A>C (p.Ser2608Arg)
n.1751A>C
c.7951A>C (p.Ser2651Arg)
 ClinVar dbSNP
2g.73489907A>GCA1714379ALMS1c.7567A>G (p.Ser2523Gly)
c.959A>G
c.5019A>G
c.2014A>G (p.Ser672Gly)
c.7948A>G (p.Ser2650Gly)
c.896-29868A>G
c.2779A>G (p.Ser927Gly)
c.7822A>G (p.Ser2608Gly)
n.1751A>G
c.7951A>G (p.Ser2651Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489907A>TCA347266514ALMS1c.7567A>T (p.Ser2523Cys)
c.959A>T
c.5019A>T
c.2014A>T (p.Ser672Cys)
c.7948A>T (p.Ser2650Cys)
c.896-29868A>T
c.2779A>T (p.Ser927Cys)
c.7822A>T (p.Ser2608Cys)
n.1751A>T
c.7951A>T (p.Ser2651Cys)
2g.73489908G>ACA347266521ALMS1c.7568G>A (p.Ser2523Asn)
c.960G>A
c.5020G>A
c.2015G>A (p.Ser672Asn)
c.7949G>A (p.Ser2650Asn)
c.896-29867G>A
c.2780G>A (p.Ser927Asn)
c.7823G>A (p.Ser2608Asn)
n.1752G>A
c.7952G>A (p.Ser2651Asn)
2g.73489908G>CCA347266524ALMS1c.7568G>C (p.Ser2523Thr)
c.960G>C
c.5020G>C
c.2015G>C (p.Ser672Thr)
c.7949G>C (p.Ser2650Thr)
c.896-29867G>C
c.2780G>C (p.Ser927Thr)
c.7823G>C (p.Ser2608Thr)
n.1752G>C
c.7952G>C (p.Ser2651Thr)
2g.73489908G>TCA347266522ALMS1c.7568G>T (p.Ser2523Ile)
c.960G>T
c.5020G>T
c.2015G>T (p.Ser672Ile)
c.7949G>T (p.Ser2650Ile)
c.896-29867G>T
c.2780G>T (p.Ser927Ile)
c.7823G>T (p.Ser2608Ile)
n.1752G>T
c.7952G>T (p.Ser2651Ile)
2g.73489909T>ACA347266526ALMS1c.7569T>A (p.Ser2523Arg)
c.961T>A
c.5021T>A
c.2016T>A (p.Ser672Arg)
c.7950T>A (p.Ser2650Arg)
c.896-29866T>A
c.2781T>A (p.Ser927Arg)
c.7824T>A (p.Ser2608Arg)
n.1753T>A
c.7953T>A (p.Ser2651Arg)
2g.73489909T>CCA427000703ALMS1c.7569T>C (p.Ser2523=)
c.961T>C
c.5021T>C
c.2016T>C (p.Ser672=)
c.7950T>C (p.Ser2650=)
c.896-29866T>C
c.2781T>C (p.Ser927=)
c.7824T>C (p.Ser2608=)
n.1753T>C
c.7953T>C (p.Ser2651=)
 dbSNP gnomAD v3 gnomAD v4
2g.73489909T>GCA347266527ALMS1c.7569T>G (p.Ser2523Arg)
c.961T>G
c.5021T>G
c.2016T>G (p.Ser672Arg)
c.7950T>G (p.Ser2650Arg)
c.896-29866T>G
c.2781T>G (p.Ser927Arg)
c.7824T>G (p.Ser2608Arg)
n.1753T>G
c.7953T>G (p.Ser2651Arg)
2g.73489909T=CA1260981214ALMS1c.7569T= (p.Ser2523=)
c.961T=
c.5021T=
c.2016T= (p.Ser672=)
c.7950T= (p.Ser2650=)
c.896-29866T=
c.2781T= (p.Ser927=)
c.7824T= (p.Ser2608=)
n.1753T=
c.7953T= (p.Ser2651=)
2g.73489910C>ACA347266530ALMS1c.7570C>A (p.His2524Asn)
c.962C>A
c.5022C>A
c.2017C>A (p.His673Asn)
c.7951C>A (p.His2651Asn)
c.896-29865C>A
c.2782C>A (p.His928Asn)
c.7825C>A (p.His2609Asn)
n.1754C>A
c.7954C>A (p.His2652Asn)
2g.73489910C>GCA347266533ALMS1c.7570C>G (p.His2524Asp)
c.962C>G
c.5022C>G
c.2017C>G (p.His673Asp)
c.7951C>G (p.His2651Asp)
c.896-29865C>G
c.2782C>G (p.His928Asp)
c.7825C>G (p.His2609Asp)
n.1754C>G
c.7954C>G (p.His2652Asp)
2g.73489910C>TCA347266536ALMS1c.7570C>T (p.His2524Tyr)
c.962C>T
c.5022C>T
c.2017C>T (p.His673Tyr)
c.7951C>T (p.His2651Tyr)
c.896-29865C>T
c.2782C>T (p.His928Tyr)
c.7825C>T (p.His2609Tyr)
n.1754C>T
c.7954C>T (p.His2652Tyr)
 gnomAD v4
2g.73489911A=CA1260981215ALMS1c.7571A= (p.His2524=)
c.963A=
c.5023A=
c.2018A= (p.His673=)
c.7952A= (p.His2651=)
c.896-29864A=
c.2783A= (p.His928=)
c.7826A= (p.His2609=)
n.1755A=
c.7955A= (p.His2652=)
2g.73489911A>CCA1714380ALMS1c.7571A>C (p.His2524Pro)
c.963A>C
c.5023A>C
c.2018A>C (p.His673Pro)
c.7952A>C (p.His2651Pro)
c.896-29864A>C
c.2783A>C (p.His928Pro)
c.7826A>C (p.His2609Pro)
n.1755A>C
c.7955A>C (p.His2652Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489911A>GCA347266538ALMS1c.7571A>G (p.His2524Arg)
c.963A>G
c.5023A>G
c.2018A>G (p.His673Arg)
c.7952A>G (p.His2651Arg)
c.896-29864A>G
c.2783A>G (p.His928Arg)
c.7826A>G (p.His2609Arg)
n.1755A>G
c.7955A>G (p.His2652Arg)
 gnomAD v4
2g.73489911A>TCA347266540ALMS1c.7571A>T (p.His2524Leu)
c.963A>T
c.5023A>T
c.2018A>T (p.His673Leu)
c.7952A>T (p.His2651Leu)
c.896-29864A>T
c.2783A>T (p.His928Leu)
c.7826A>T (p.His2609Leu)
n.1755A>T
c.7955A>T (p.His2652Leu)
2g.73489912T>ACA347266544ALMS1c.7572T>A (p.His2524Gln)
c.964T>A
c.5024T>A
c.2019T>A (p.His673Gln)
c.7953T>A (p.His2651Gln)
c.896-29863T>A
c.2784T>A (p.His928Gln)
c.7827T>A (p.His2609Gln)
n.1756T>A
c.7956T>A (p.His2652Gln)
2g.73489912T>CCA427000704ALMS1c.7572T>C (p.His2524=)
c.964T>C
c.5024T>C
c.2019T>C (p.His673=)
c.7953T>C (p.His2651=)
c.896-29863T>C
c.2784T>C (p.His928=)
c.7827T>C (p.His2609=)
n.1756T>C
c.7956T>C (p.His2652=)
 gnomAD v4
2g.73489912T>GCA347266547ALMS1c.7572T>G (p.His2524Gln)
c.964T>G
c.5024T>G
c.2019T>G (p.His673Gln)
c.7953T>G (p.His2651Gln)
c.896-29863T>G
c.2784T>G (p.His928Gln)
c.7827T>G (p.His2609Gln)
n.1756T>G
c.7956T>G (p.His2652Gln)
2g.73489913T>ACA347266551ALMS1c.7573T>A (p.Ser2525Thr)
c.965T>A
c.5025T>A
c.2020T>A (p.Ser674Thr)
c.7954T>A (p.Ser2652Thr)
c.896-29862T>A
c.2785T>A (p.Ser929Thr)
c.7828T>A (p.Ser2610Thr)
n.1757T>A
c.7957T>A (p.Ser2653Thr)
2g.73489913T>CCA347266553ALMS1c.7573T>C (p.Ser2525Pro)
c.965T>C
c.5025T>C
c.2020T>C (p.Ser674Pro)
c.7954T>C (p.Ser2652Pro)
c.896-29862T>C
c.2785T>C (p.Ser929Pro)
c.7828T>C (p.Ser2610Pro)
n.1757T>C
c.7957T>C (p.Ser2653Pro)
2g.73489913T>GCA347266556ALMS1c.7573T>G (p.Ser2525Ala)
c.965T>G
c.5025T>G
c.2020T>G (p.Ser674Ala)
c.7954T>G (p.Ser2652Ala)
c.896-29862T>G
c.2785T>G (p.Ser929Ala)
c.7828T>G (p.Ser2610Ala)
n.1757T>G
c.7957T>G (p.Ser2653Ala)
2g.73489914C>ACA347266563ALMS1c.7574C>A (p.Ser2525Tyr)
c.966C>A
c.5026C>A
c.2021C>A (p.Ser674Tyr)
c.7955C>A (p.Ser2652Tyr)
c.896-29861C>A
c.2786C>A (p.Ser929Tyr)
c.7829C>A (p.Ser2610Tyr)
n.1758C>A
c.7958C>A (p.Ser2653Tyr)
2g.73489914C=CA1260981216ALMS1c.7574C= (p.Ser2525=)
c.966C=
c.5026C=
c.2021C= (p.Ser674=)
c.7955C= (p.Ser2652=)
c.896-29861C=
c.2786C= (p.Ser929=)
c.7829C= (p.Ser2610=)
n.1758C=
c.7958C= (p.Ser2653=)
2g.73489914C>GCA1714381ALMS1c.7574C>G (p.Ser2525Cys)
c.966C>G
c.5026C>G
c.2021C>G (p.Ser674Cys)
c.7955C>G (p.Ser2652Cys)
c.896-29861C>G
c.2786C>G (p.Ser929Cys)
c.7829C>G (p.Ser2610Cys)
n.1758C>G
c.7958C>G (p.Ser2653Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489914C>TCA50377758ALMS1c.7574C>T (p.Ser2525Phe)
c.966C>T
c.5026C>T
c.2021C>T (p.Ser674Phe)
c.7955C>T (p.Ser2652Phe)
c.896-29861C>T
c.2786C>T (p.Ser929Phe)
c.7829C>T (p.Ser2610Phe)
n.1758C>T
c.7958C>T (p.Ser2653Phe)
 dbSNP gnomAD v4
2g.73489915C>ACA427000705ALMS1c.7575C>A (p.Ser2525=)
c.967C>A
c.5027C>A
c.2022C>A (p.Ser674=)
c.7956C>A (p.Ser2652=)
c.896-29860C>A
c.2787C>A (p.Ser929=)
c.7830C>A (p.Ser2610=)
n.1759C>A
c.7959C>A (p.Ser2653=)
2g.73489915C>GCA427000706ALMS1c.7575C>G (p.Ser2525=)
c.967C>G
c.5027C>G
c.2022C>G (p.Ser674=)
c.7956C>G (p.Ser2652=)
c.896-29860C>G
c.2787C>G (p.Ser929=)
c.7830C>G (p.Ser2610=)
n.1759C>G
c.7959C>G (p.Ser2653=)
2g.73489915C>TCA427000707ALMS1c.7575C>T (p.Ser2525=)
c.967C>T
c.5027C>T
c.2022C>T (p.Ser674=)
c.7956C>T (p.Ser2652=)
c.896-29860C>T
c.2787C>T (p.Ser929=)
c.7830C>T (p.Ser2610=)
n.1759C>T
c.7959C>T (p.Ser2653=)
 ClinVar dbSNP
2g.73489916C>ACA347266565ALMS1c.7576C>A (p.Pro2526Thr)
c.968C>A
c.5028C>A
c.2023C>A (p.Pro675Thr)
c.7957C>A (p.Pro2653Thr)
c.896-29859C>A
c.2788C>A (p.Pro930Thr)
c.7831C>A (p.Pro2611Thr)
n.1760C>A
c.7960C>A (p.Pro2654Thr)
2g.73489916C>GCA347266567ALMS1c.7576C>G (p.Pro2526Ala)
c.968C>G
c.5028C>G
c.2023C>G (p.Pro675Ala)
c.7957C>G (p.Pro2653Ala)
c.896-29859C>G
c.2788C>G (p.Pro930Ala)
c.7831C>G (p.Pro2611Ala)
n.1760C>G
c.7960C>G (p.Pro2654Ala)
 ClinVar gnomAD v4
2g.73489916C>TCA347266577ALMS1c.7576C>T (p.Pro2526Ser)
c.968C>T
c.5028C>T
c.2023C>T (p.Pro675Ser)
c.7957C>T (p.Pro2653Ser)
c.896-29859C>T
c.2788C>T (p.Pro930Ser)
c.7831C>T (p.Pro2611Ser)
n.1760C>T
c.7960C>T (p.Pro2654Ser)
2g.73489917C>ACA347266580ALMS1c.7577C>A (p.Pro2526Gln)
c.969C>A
c.5029C>A
c.2024C>A (p.Pro675Gln)
c.7958C>A (p.Pro2653Gln)
c.896-29858C>A
c.2789C>A (p.Pro930Gln)
c.7832C>A (p.Pro2611Gln)
n.1761C>A
c.7961C>A (p.Pro2654Gln)
2g.73489917C>GCA347266583ALMS1c.7577C>G (p.Pro2526Arg)
c.969C>G
c.5029C>G
c.2024C>G (p.Pro675Arg)
c.7958C>G (p.Pro2653Arg)
c.896-29858C>G
c.2789C>G (p.Pro930Arg)
c.7832C>G (p.Pro2611Arg)
n.1761C>G
c.7961C>G (p.Pro2654Arg)
2g.73489917C>TCA347266585ALMS1c.7577C>T (p.Pro2526Leu)
c.969C>T
c.5029C>T
c.2024C>T (p.Pro675Leu)
c.7958C>T (p.Pro2653Leu)
c.896-29858C>T
c.2789C>T (p.Pro930Leu)
c.7832C>T (p.Pro2611Leu)
n.1761C>T
c.7961C>T (p.Pro2654Leu)
2g.73489918A=CA1260981217ALMS1c.7578A= (p.Pro2526=)
c.970A=
c.5030A=
c.2025A= (p.Pro675=)
c.7959A= (p.Pro2653=)
c.896-29857A=
c.2790A= (p.Pro930=)
c.7833A= (p.Pro2611=)
n.1762A=
c.7962A= (p.Pro2654=)
2g.73489918A>CCA427000708ALMS1c.7578A>C (p.Pro2526=)
c.970A>C
c.5030A>C
c.2025A>C (p.Pro675=)
c.7959A>C (p.Pro2653=)
c.896-29857A>C
c.2790A>C (p.Pro930=)
c.7833A>C (p.Pro2611=)
n.1762A>C
c.7962A>C (p.Pro2654=)
 gnomAD v4
2g.73489918A>GCA1714382ALMS1c.7578A>G (p.Pro2526=)
c.970A>G
c.5030A>G
c.2025A>G (p.Pro675=)
c.7959A>G (p.Pro2653=)
c.896-29857A>G
c.2790A>G (p.Pro930=)
c.7833A>G (p.Pro2611=)
n.1762A>G
c.7962A>G (p.Pro2654=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489918A>TCA427000709ALMS1c.7578A>T (p.Pro2526=)
c.970A>T
c.5030A>T
c.2025A>T (p.Pro675=)
c.7959A>T (p.Pro2653=)
c.896-29857A>T
c.2790A>T (p.Pro930=)
c.7833A>T (p.Pro2611=)
n.1762A>T
c.7962A>T (p.Pro2654=)
2g.73489919T>ACA347266597ALMS1c.7579T>A (p.Phe2527Ile)
c.971T>A
c.5031T>A
c.2026T>A (p.Phe676Ile)
c.7960T>A (p.Phe2654Ile)
c.896-29856T>A
c.2791T>A (p.Phe931Ile)
c.7834T>A (p.Phe2612Ile)
n.1763T>A
c.7963T>A (p.Phe2655Ile)
2g.73489919T>CCA347266600ALMS1c.7579T>C (p.Phe2527Leu)
c.971T>C
c.5031T>C
c.2026T>C (p.Phe676Leu)
c.7960T>C (p.Phe2654Leu)
c.896-29856T>C
c.2791T>C (p.Phe931Leu)
c.7834T>C (p.Phe2612Leu)
n.1763T>C
c.7963T>C (p.Phe2655Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.73489919T>GCA347266602ALMS1c.7579T>G (p.Phe2527Val)
c.971T>G
c.5031T>G
c.2026T>G (p.Phe676Val)
c.7960T>G (p.Phe2654Val)
c.896-29856T>G
c.2791T>G (p.Phe931Val)
c.7834T>G (p.Phe2612Val)
n.1763T>G
c.7963T>G (p.Phe2655Val)
2g.73489919T=CA1260981218ALMS1c.7579T= (p.Phe2527=)
c.971T=
c.5031T=
c.2026T= (p.Phe676=)
c.7960T= (p.Phe2654=)
c.896-29856T=
c.2791T= (p.Phe931=)
c.7834T= (p.Phe2612=)
n.1763T=
c.7963T= (p.Phe2655=)
2g.73489920T>ACA347266605ALMS1c.7580T>A (p.Phe2527Tyr)
c.972T>A
c.5032T>A
c.2027T>A (p.Phe676Tyr)
c.7961T>A (p.Phe2654Tyr)
c.896-29855T>A
c.2792T>A (p.Phe931Tyr)
c.7835T>A (p.Phe2612Tyr)
n.1764T>A
c.7964T>A (p.Phe2655Tyr)
2g.73489920T>CCA347266609ALMS1c.7580T>C (p.Phe2527Ser)
c.972T>C
c.5032T>C
c.2027T>C (p.Phe676Ser)
c.7961T>C (p.Phe2654Ser)
c.896-29855T>C
c.2792T>C (p.Phe931Ser)
c.7835T>C (p.Phe2612Ser)
n.1764T>C
c.7964T>C (p.Phe2655Ser)
2g.73489920T>GCA347266612ALMS1c.7580T>G (p.Phe2527Cys)
c.972T>G
c.5032T>G
c.2027T>G (p.Phe676Cys)
c.7961T>G (p.Phe2654Cys)
c.896-29855T>G
c.2792T>G (p.Phe931Cys)
c.7835T>G (p.Phe2612Cys)
n.1764T>G
c.7964T>G (p.Phe2655Cys)
 gnomAD v4
2g.73489921T>ACA347266613ALMS1c.7581T>A (p.Phe2527Leu)
c.973T>A
c.5033T>A
c.2028T>A (p.Phe676Leu)
c.7962T>A (p.Phe2654Leu)
c.896-29854T>A
c.2793T>A (p.Phe931Leu)
c.7836T>A (p.Phe2612Leu)
n.1765T>A
c.7965T>A (p.Phe2655Leu)
2g.73489921T>CCA427000710ALMS1c.7581T>C (p.Phe2527=)
c.973T>C
c.5033T>C
c.2028T>C (p.Phe676=)
c.7962T>C (p.Phe2654=)
c.896-29854T>C
c.2793T>C (p.Phe931=)
c.7836T>C (p.Phe2612=)
n.1765T>C
c.7965T>C (p.Phe2655=)
2g.73489921T>GCA347266616ALMS1c.7581T>G (p.Phe2527Leu)
c.973T>G
c.5033T>G
c.2028T>G (p.Phe676Leu)
c.7962T>G (p.Phe2654Leu)
c.896-29854T>G
c.2793T>G (p.Phe931Leu)
c.7836T>G (p.Phe2612Leu)
n.1765T>G
c.7965T>G (p.Phe2655Leu)
 gnomAD v4
2g.73489922C>ACA347266619ALMS1c.7582C>A (p.Gln2528Lys)
c.974C>A
c.5034C>A
c.2029C>A (p.Gln677Lys)
c.7963C>A (p.Gln2655Lys)
c.896-29853C>A
c.2794C>A (p.Gln932Lys)
c.7837C>A (p.Gln2613Lys)
n.1766C>A
c.7966C>A (p.Gln2656Lys)
2g.73489922C>GCA347266622ALMS1c.7582C>G (p.Gln2528Glu)
c.974C>G
c.5034C>G
c.2029C>G (p.Gln677Glu)
c.7963C>G (p.Gln2655Glu)
c.896-29853C>G
c.2794C>G (p.Gln932Glu)
c.7837C>G (p.Gln2613Glu)
n.1766C>G
c.7966C>G (p.Gln2656Glu)
2g.73489922C>TCA347266624ALMS1c.7582C>T (p.Gln2528Ter)
c.974C>T
c.5034C>T
c.2029C>T (p.Gln677Ter)
c.7963C>T (p.Gln2655Ter)
c.896-29853C>T
c.2794C>T (p.Gln932Ter)
c.7837C>T (p.Gln2613Ter)
n.1766C>T
c.7966C>T (p.Gln2656Ter)
2g.73489923A=CA1260981219ALMS1c.7583A= (p.Gln2528=)
c.975A=
c.5035A=
c.2030A= (p.Gln677=)
c.7964A= (p.Gln2655=)
c.896-29852A=
c.2795A= (p.Gln932=)
c.7838A= (p.Gln2613=)
n.1767A=
c.7967A= (p.Gln2656=)
2g.73489923A>CCA347266625ALMS1c.7583A>C (p.Gln2528Pro)
c.975A>C
c.5035A>C
c.2030A>C (p.Gln677Pro)
c.7964A>C (p.Gln2655Pro)
c.896-29852A>C
c.2795A>C (p.Gln932Pro)
c.7838A>C (p.Gln2613Pro)
n.1767A>C
c.7967A>C (p.Gln2656Pro)
 dbSNP
2g.73489923A>GCA347266630ALMS1c.7583A>G (p.Gln2528Arg)
c.975A>G
c.5035A>G
c.2030A>G (p.Gln677Arg)
c.7964A>G (p.Gln2655Arg)
c.896-29852A>G
c.2795A>G (p.Gln932Arg)
c.7838A>G (p.Gln2613Arg)
n.1767A>G
c.7967A>G (p.Gln2656Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73489923A>TCA347266632ALMS1c.7583A>T (p.Gln2528Leu)
c.975A>T
c.5035A>T
c.2030A>T (p.Gln677Leu)
c.7964A>T (p.Gln2655Leu)
c.896-29852A>T
c.2795A>T (p.Gln932Leu)
c.7838A>T (p.Gln2613Leu)
n.1767A>T
c.7967A>T (p.Gln2656Leu)
2g.73489924G>ACA427000711ALMS1c.7584G>A (p.Gln2528=)
c.976G>A
c.5036G>A
c.2031G>A (p.Gln677=)
c.7965G>A (p.Gln2655=)
c.896-29851G>A
c.2796G>A (p.Gln932=)
c.7839G>A (p.Gln2613=)
n.1768G>A
c.7968G>A (p.Gln2656=)
 gnomAD v4
2g.73489924G>CCA347266635ALMS1c.7584G>C (p.Gln2528His)
c.976G>C
c.5036G>C
c.2031G>C (p.Gln677His)
c.7965G>C (p.Gln2655His)
c.896-29851G>C
c.2796G>C (p.Gln932His)
c.7839G>C (p.Gln2613His)
n.1768G>C
c.7968G>C (p.Gln2656His)
2g.73489924G>TCA347266638ALMS1c.7584G>T (p.Gln2528His)
c.976G>T
c.5036G>T
c.2031G>T (p.Gln677His)
c.7965G>T (p.Gln2655His)
c.896-29851G>T
c.2796G>T (p.Gln932His)
c.7839G>T (p.Gln2613His)
n.1768G>T
c.7968G>T (p.Gln2656His)
2g.73489925A>CCA347266641ALMS1c.7585A>C (p.Asn2529His)
c.977A>C
c.5037A>C
c.2032A>C (p.Asn678His)
c.7966A>C (p.Asn2656His)
c.896-29850A>C
c.2797A>C (p.Asn933His)
c.7840A>C (p.Asn2614His)
n.1769A>C
c.7969A>C (p.Asn2657His)
2g.73489925A>GCA347266643ALMS1c.7585A>G (p.Asn2529Asp)
c.977A>G
c.5037A>G
c.2032A>G (p.Asn678Asp)
c.7966A>G (p.Asn2656Asp)
c.896-29850A>G
c.2797A>G (p.Asn933Asp)
c.7840A>G (p.Asn2614Asp)
n.1769A>G
c.7969A>G (p.Asn2657Asp)
2g.73489925A>TCA347266645ALMS1c.7585A>T (p.Asn2529Tyr)
c.977A>T
c.5037A>T
c.2032A>T (p.Asn678Tyr)
c.7966A>T (p.Asn2656Tyr)
c.896-29850A>T
c.2797A>T (p.Asn933Tyr)
c.7840A>T (p.Asn2614Tyr)
n.1769A>T
c.7969A>T (p.Asn2657Tyr)
2g.73489926A>CCA347266648ALMS1c.7586A>C (p.Asn2529Thr)
c.978A>C
c.5038A>C
c.2033A>C (p.Asn678Thr)
c.7967A>C (p.Asn2656Thr)
c.896-29849A>C
c.2798A>C (p.Asn933Thr)
c.7841A>C (p.Asn2614Thr)
n.1770A>C
c.7970A>C (p.Asn2657Thr)
2g.73489926A>GCA347266651ALMS1c.7586A>G (p.Asn2529Ser)
c.978A>G
c.5038A>G
c.2033A>G (p.Asn678Ser)
c.7967A>G (p.Asn2656Ser)
c.896-29849A>G
c.2798A>G (p.Asn933Ser)
c.7841A>G (p.Asn2614Ser)
n.1770A>G
c.7970A>G (p.Asn2657Ser)
2g.73489926A>TCA347266653ALMS1c.7586A>T (p.Asn2529Ile)
c.978A>T
c.5038A>T
c.2033A>T (p.Asn678Ile)
c.7967A>T (p.Asn2656Ile)
c.896-29849A>T
c.2798A>T (p.Asn933Ile)
c.7841A>T (p.Asn2614Ile)
n.1770A>T
c.7970A>T (p.Asn2657Ile)
2g.73489928_73489934delCA2582342409ALMS1c.7588_7594del (p.Phe2530LeufsTer25)
c.980_986del
c.5040_5046del
c.2035_2041del (p.Phe679LeufsTer25)
c.7969_7975del (p.Phe2657LeufsTer25)
c.896-29847_896-29841del
c.2800_2806del (p.Phe934LeufsTer25)
c.7843_7849del (p.Phe2615LeufsTer25)
n.1772_1778del
c.7972_7978del (p.Phe2658LeufsTer25)
 ClinVar
2g.73489927C>ACA347266656ALMS1c.7587C>A (p.Asn2529Lys)
c.979C>A
c.5039C>A
c.2034C>A (p.Asn678Lys)
c.7968C>A (p.Asn2656Lys)
c.896-29848C>A
c.2799C>A (p.Asn933Lys)
c.7842C>A (p.Asn2614Lys)
n.1771C>A
c.7971C>A (p.Asn2657Lys)
2g.73489927C=CA1260981220ALMS1c.7587C= (p.Asn2529=)
c.979C=
c.5039C=
c.2034C= (p.Asn678=)
c.7968C= (p.Asn2656=)
c.896-29848C=
c.2799C= (p.Asn933=)
c.7842C= (p.Asn2614=)
n.1771C=
c.7971C= (p.Asn2657=)
2g.73489927C>GCA1714383ALMS1c.7587C>G (p.Asn2529Lys)
c.979C>G
c.5039C>G
c.2034C>G (p.Asn678Lys)
c.7968C>G (p.Asn2656Lys)
c.896-29848C>G
c.2799C>G (p.Asn933Lys)
c.7842C>G (p.Asn2614Lys)
n.1771C>G
c.7971C>G (p.Asn2657Lys)
 dbSNP ExAC gnomAD v2
2g.73489927C>TCA427000712ALMS1c.7587C>T (p.Asn2529=)
c.979C>T
c.5039C>T
c.2034C>T (p.Asn678=)
c.7968C>T (p.Asn2656=)
c.896-29848C>T
c.2799C>T (p.Asn933=)
c.7842C>T (p.Asn2614=)
n.1771C>T
c.7971C>T (p.Asn2657=)
2g.73489928T>ACA347266660ALMS1c.7588T>A (p.Phe2530Ile)
c.980T>A
c.5040T>A
c.2035T>A (p.Phe679Ile)
c.7969T>A (p.Phe2657Ile)
c.896-29847T>A
c.2800T>A (p.Phe934Ile)
c.7843T>A (p.Phe2615Ile)
n.1772T>A
c.7972T>A (p.Phe2658Ile)
2g.73489928T>CCA347266663ALMS1c.7588T>C (p.Phe2530Leu)
c.980T>C
c.5040T>C
c.2035T>C (p.Phe679Leu)
c.7969T>C (p.Phe2657Leu)
c.896-29847T>C
c.2800T>C (p.Phe934Leu)
c.7843T>C (p.Phe2615Leu)
n.1772T>C
c.7972T>C (p.Phe2658Leu)
 ClinVar dbSNP
2g.73489928T>GCA347266665ALMS1c.7588T>G (p.Phe2530Val)
c.980T>G
c.5040T>G
c.2035T>G (p.Phe679Val)
c.7969T>G (p.Phe2657Val)
c.896-29847T>G
c.2800T>G (p.Phe934Val)
c.7843T>G (p.Phe2615Val)
n.1772T>G
c.7972T>G (p.Phe2658Val)
2g.73489928T=CA1260981221ALMS1c.7588T= (p.Phe2530=)
c.980T=
c.5040T=
c.2035T= (p.Phe679=)
c.7969T= (p.Phe2657=)
c.896-29847T=
c.2800T= (p.Phe934=)
c.7843T= (p.Phe2615=)
n.1772T=
c.7972T= (p.Phe2658=)
2g.73489929T>ACA347266667ALMS1c.7589T>A (p.Phe2530Tyr)
c.981T>A
c.5041T>A
c.2036T>A (p.Phe679Tyr)
c.7970T>A (p.Phe2657Tyr)
c.896-29846T>A
c.2801T>A (p.Phe934Tyr)
c.7844T>A (p.Phe2615Tyr)
n.1773T>A
c.7973T>A (p.Phe2658Tyr)
2g.73489929T>CCA347266669ALMS1c.7589T>C (p.Phe2530Ser)
c.981T>C
c.5041T>C
c.2036T>C (p.Phe679Ser)
c.7970T>C (p.Phe2657Ser)
c.896-29846T>C
c.2801T>C (p.Phe934Ser)
c.7844T>C (p.Phe2615Ser)
n.1773T>C
c.7973T>C (p.Phe2658Ser)
2g.73489929T>GCA347266672ALMS1c.7589T>G (p.Phe2530Cys)
c.981T>G
c.5041T>G
c.2036T>G (p.Phe679Cys)
c.7970T>G (p.Phe2657Cys)
c.896-29846T>G
c.2801T>G (p.Phe934Cys)
c.7844T>G (p.Phe2615Cys)
n.1773T>G
c.7973T>G (p.Phe2658Cys)
2g.73489930T>ACA347266675ALMS1c.7590T>A (p.Phe2530Leu)
c.982T>A
c.5042T>A
c.2037T>A (p.Phe679Leu)
c.7971T>A (p.Phe2657Leu)
c.896-29845T>A
c.2802T>A (p.Phe934Leu)
c.7845T>A (p.Phe2615Leu)
n.1774T>A
c.7974T>A (p.Phe2658Leu)
2g.73489930T>CCA427000713ALMS1c.7590T>C (p.Phe2530=)
c.982T>C
c.5042T>C
c.2037T>C (p.Phe679=)
c.7971T>C (p.Phe2657=)
c.896-29845T>C
c.2802T>C (p.Phe934=)
c.7845T>C (p.Phe2615=)
n.1774T>C
c.7974T>C (p.Phe2658=)
 ClinVar
2g.73489930T>GCA347266676ALMS1c.7590T>G (p.Phe2530Leu)
c.982T>G
c.5042T>G
c.2037T>G (p.Phe679Leu)
c.7971T>G (p.Phe2657Leu)
c.896-29845T>G
c.2802T>G (p.Phe934Leu)
c.7845T>G (p.Phe2615Leu)
n.1774T>G
c.7974T>G (p.Phe2658Leu)
2g.73489931A>CCA347266678ALMS1c.7591A>C (p.Ile2531Leu)
c.983A>C
c.5043A>C
c.2038A>C (p.Ile680Leu)
c.7972A>C (p.Ile2658Leu)
c.896-29844A>C
c.2803A>C (p.Ile935Leu)
c.7846A>C (p.Ile2616Leu)
n.1775A>C
c.7975A>C (p.Ile2659Leu)
 gnomAD v4
2g.73489931A>GCA347266679ALMS1c.7591A>G (p.Ile2531Val)
c.983A>G
c.5043A>G
c.2038A>G (p.Ile680Val)
c.7972A>G (p.Ile2658Val)
c.896-29844A>G
c.2803A>G (p.Ile935Val)
c.7846A>G (p.Ile2616Val)
n.1775A>G
c.7975A>G (p.Ile2659Val)
 gnomAD v4
2g.73489931A>TCA347266682ALMS1c.7591A>T (p.Ile2531Leu)
c.983A>T
c.5043A>T
c.2038A>T (p.Ile680Leu)
c.7972A>T (p.Ile2658Leu)
c.896-29844A>T
c.2803A>T (p.Ile935Leu)
c.7846A>T (p.Ile2616Leu)
n.1775A>T
c.7975A>T (p.Ile2659Leu)
2g.73489932T>ACA347266691ALMS1c.7592T>A (p.Ile2531Lys)
c.984T>A
c.5044T>A
c.2039T>A (p.Ile680Lys)
c.7973T>A (p.Ile2658Lys)
c.896-29843T>A
c.2804T>A (p.Ile935Lys)
c.7847T>A (p.Ile2616Lys)
n.1776T>A
c.7976T>A (p.Ile2659Lys)
2g.73489932T>CCA347266686ALMS1c.7592T>C (p.Ile2531Thr)
c.984T>C
c.5044T>C
c.2039T>C (p.Ile680Thr)
c.7973T>C (p.Ile2658Thr)
c.896-29843T>C
c.2804T>C (p.Ile935Thr)
c.7847T>C (p.Ile2616Thr)
n.1776T>C
c.7976T>C (p.Ile2659Thr)
2g.73489932T>GCA347266685ALMS1c.7592T>G (p.Ile2531Arg)
c.984T>G
c.5044T>G
c.2039T>G (p.Ile680Arg)
c.7973T>G (p.Ile2658Arg)
c.896-29843T>G
c.2804T>G (p.Ile935Arg)
c.7847T>G (p.Ile2616Arg)
n.1776T>G
c.7976T>G (p.Ile2659Arg)
2g.73489933A>CCA427000715ALMS1c.7593A>C (p.Ile2531=)
c.985A>C
c.5045A>C
c.2040A>C (p.Ile680=)
c.7974A>C (p.Ile2658=)
c.896-29842A>C
c.2805A>C (p.Ile935=)
c.7848A>C (p.Ile2616=)
n.1777A>C
c.7977A>C (p.Ile2659=)
2g.73489933A>GCA347266693ALMS1c.7593A>G (p.Ile2531Met)
c.985A>G
c.5045A>G
c.2040A>G (p.Ile680Met)
c.7974A>G (p.Ile2658Met)
c.896-29842A>G
c.2805A>G (p.Ile935Met)
c.7848A>G (p.Ile2616Met)
n.1777A>G
c.7977A>G (p.Ile2659Met)
2g.73489933A>TCA427000714ALMS1c.7593A>T (p.Ile2531=)
c.985A>T
c.5045A>T
c.2040A>T (p.Ile680=)
c.7974A>T (p.Ile2658=)
c.896-29842A>T
c.2805A>T (p.Ile935=)
c.7848A>T (p.Ile2616=)
n.1777A>T
c.7977A>T (p.Ile2659=)
2g.73489934C>ACA347266700ALMS1c.7594C>A (p.Pro2532Thr)
c.986C>A
c.5046C>A
c.2041C>A (p.Pro681Thr)
c.7975C>A (p.Pro2659Thr)
c.896-29841C>A
c.2806C>A (p.Pro936Thr)
c.7849C>A (p.Pro2617Thr)
n.1778C>A
c.7978C>A (p.Pro2660Thr)
2g.73489934C=CA1260981222ALMS1c.7594C= (p.Pro2532=)
c.986C=
c.5046C=
c.2041C= (p.Pro681=)
c.7975C= (p.Pro2659=)
c.896-29841C=
c.2806C= (p.Pro936=)
c.7849C= (p.Pro2617=)
n.1778C=
c.7978C= (p.Pro2660=)
2g.73489934C>GCA347266697ALMS1c.7594C>G (p.Pro2532Ala)
c.986C>G
c.5046C>G
c.2041C>G (p.Pro681Ala)
c.7975C>G (p.Pro2659Ala)
c.896-29841C>G
c.2806C>G (p.Pro936Ala)
c.7849C>G (p.Pro2617Ala)
n.1778C>G
c.7978C>G (p.Pro2660Ala)
2g.73489934C>TCA50377791ALMS1c.7594C>T (p.Pro2532Ser)
c.986C>T
c.5046C>T
c.2041C>T (p.Pro681Ser)
c.7975C>T (p.Pro2659Ser)
c.896-29841C>T
c.2806C>T (p.Pro936Ser)
c.7849C>T (p.Pro2617Ser)
n.1778C>T
c.7978C>T (p.Pro2660Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489935delCA2659619828ALMS1c.7595del (p.Pro2532LeufsTer25)
c.987del
c.5047del
c.2042del (p.Pro681LeufsTer25)
c.7976del (p.Pro2659LeufsTer25)
c.896-29840del
c.2807del (p.Pro936LeufsTer25)
c.7850del (p.Pro2617LeufsTer25)
n.1779del
c.7979del (p.Pro2660LeufsTer25)
 gnomAD v4
2g.73489935C>ACA347266704ALMS1c.7595C>A (p.Pro2532His)
c.987C>A
c.5047C>A
c.2042C>A (p.Pro681His)
c.7976C>A (p.Pro2659His)
c.896-29840C>A
c.2807C>A (p.Pro936His)
c.7850C>A (p.Pro2617His)
n.1779C>A
c.7979C>A (p.Pro2660His)
2g.73489935C=CA1260981223ALMS1c.7595C= (p.Pro2532=)
c.987C=
c.5047C=
c.2042C= (p.Pro681=)
c.7976C= (p.Pro2659=)
c.896-29840C=
c.2807C= (p.Pro936=)
c.7850C= (p.Pro2617=)
n.1779C=
c.7979C= (p.Pro2660=)
2g.73489935C>GCA1714384ALMS1c.7595C>G (p.Pro2532Arg)
c.987C>G
c.5047C>G
c.2042C>G (p.Pro681Arg)
c.7976C>G (p.Pro2659Arg)
c.896-29840C>G
c.2807C>G (p.Pro936Arg)
c.7850C>G (p.Pro2617Arg)
n.1779C>G
c.7979C>G (p.Pro2660Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489935C>TCA347266711ALMS1c.7595C>T (p.Pro2532Leu)
c.987C>T
c.5047C>T
c.2042C>T (p.Pro681Leu)
c.7976C>T (p.Pro2659Leu)
c.896-29840C>T
c.2807C>T (p.Pro936Leu)
c.7850C>T (p.Pro2617Leu)
n.1779C>T
c.7979C>T (p.Pro2660Leu)
2g.73489936T>ACA427000716ALMS1c.7596T>A (p.Pro2532=)
c.988T>A
c.5048T>A
c.2043T>A (p.Pro681=)
c.7977T>A (p.Pro2659=)
c.896-29839T>A
c.2808T>A (p.Pro936=)
c.7851T>A (p.Pro2617=)
n.1780T>A
c.7980T>A (p.Pro2660=)
2g.73489936T>CCA427000717ALMS1c.7596T>C (p.Pro2532=)
c.988T>C
c.5048T>C
c.2043T>C (p.Pro681=)
c.7977T>C (p.Pro2659=)
c.896-29839T>C
c.2808T>C (p.Pro936=)
c.7851T>C (p.Pro2617=)
n.1780T>C
c.7980T>C (p.Pro2660=)
2g.73489936T>GCA427000718ALMS1c.7596T>G (p.Pro2532=)
c.988T>G
c.5048T>G
c.2043T>G (p.Pro681=)
c.7977T>G (p.Pro2659=)
c.896-29839T>G
c.2808T>G (p.Pro936=)
c.7851T>G (p.Pro2617=)
n.1780T>G
c.7980T>G (p.Pro2660=)
2g.73489937G>ACA347266713ALMS1c.7597G>A (p.Asp2533Asn)
c.989G>A
c.5049G>A
c.2044G>A (p.Asp682Asn)
c.7978G>A (p.Asp2660Asn)
c.896-29838G>A
c.2809G>A (p.Asp937Asn)
c.7852G>A (p.Asp2618Asn)
n.1781G>A
c.7981G>A (p.Asp2661Asn)
2g.73489937G>CCA347266715ALMS1c.7597G>C (p.Asp2533His)
c.989G>C
c.5049G>C
c.2044G>C (p.Asp682His)
c.7978G>C (p.Asp2660His)
c.896-29838G>C
c.2809G>C (p.Asp937His)
c.7852G>C (p.Asp2618His)
n.1781G>C
c.7981G>C (p.Asp2661His)
2g.73489937G>TCA347266717ALMS1c.7597G>T (p.Asp2533Tyr)
c.989G>T
c.5049G>T
c.2044G>T (p.Asp682Tyr)
c.7978G>T (p.Asp2660Tyr)
c.896-29838G>T
c.2809G>T (p.Asp937Tyr)
c.7852G>T (p.Asp2618Tyr)
n.1781G>T
c.7981G>T (p.Asp2661Tyr)
2g.73489938A>CCA347266719ALMS1c.7598A>C (p.Asp2533Ala)
c.990A>C
c.5050A>C
c.2045A>C (p.Asp682Ala)
c.7979A>C (p.Asp2660Ala)
c.896-29837A>C
c.2810A>C (p.Asp937Ala)
c.7853A>C (p.Asp2618Ala)
n.1782A>C
c.7982A>C (p.Asp2661Ala)
2g.73489938A>GCA347266721ALMS1c.7598A>G (p.Asp2533Gly)
c.990A>G
c.5050A>G
c.2045A>G (p.Asp682Gly)
c.7979A>G (p.Asp2660Gly)
c.896-29837A>G
c.2810A>G (p.Asp937Gly)
c.7853A>G (p.Asp2618Gly)
n.1782A>G
c.7982A>G (p.Asp2661Gly)
2g.73489938A>TCA347266724ALMS1c.7598A>T (p.Asp2533Val)
c.990A>T
c.5050A>T
c.2045A>T (p.Asp682Val)
c.7979A>T (p.Asp2660Val)
c.896-29837A>T
c.2810A>T (p.Asp937Val)
c.7853A>T (p.Asp2618Val)
n.1782A>T
c.7982A>T (p.Asp2661Val)
2g.73489939T>ACA347266727ALMS1c.7599T>A (p.Asp2533Glu)
c.991T>A
c.5051T>A
c.2046T>A (p.Asp682Glu)
c.7980T>A (p.Asp2660Glu)
c.896-29836T>A
c.2811T>A (p.Asp937Glu)
c.7854T>A (p.Asp2618Glu)
n.1783T>A
c.7983T>A (p.Asp2661Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.73489939T>CCA427000719ALMS1c.7599T>C (p.Asp2533=)
c.991T>C
c.5051T>C
c.2046T>C (p.Asp682=)
c.7980T>C (p.Asp2660=)
c.896-29836T>C
c.2811T>C (p.Asp937=)
c.7854T>C (p.Asp2618=)
n.1783T>C
c.7983T>C (p.Asp2661=)
 gnomAD v4
2g.73489939T>GCA347266729ALMS1c.7599T>G (p.Asp2533Glu)
c.991T>G
c.5051T>G
c.2046T>G (p.Asp682Glu)
c.7980T>G (p.Asp2660Glu)
c.896-29836T>G
c.2811T>G (p.Asp937Glu)
c.7854T>G (p.Asp2618Glu)
n.1783T>G
c.7983T>G (p.Asp2661Glu)
2g.73489939T=CA1260981224ALMS1c.7599T= (p.Asp2533=)
c.991T=
c.5051T=
c.2046T= (p.Asp682=)
c.7980T= (p.Asp2660=)
c.896-29836T=
c.2811T= (p.Asp937=)
c.7854T= (p.Asp2618=)
n.1783T=
c.7983T= (p.Asp2661=)
2g.73489940G>ACA1714385ALMS1c.7600G>A (p.Glu2534Lys)
c.992G>A
c.5052G>A
c.2047G>A (p.Glu683Lys)
c.7981G>A (p.Glu2661Lys)
c.896-29835G>A
c.2812G>A (p.Glu938Lys)
c.7855G>A (p.Glu2619Lys)
n.1784G>A
c.7984G>A (p.Glu2662Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489940G>CCA347266732ALMS1c.7600G>C (p.Glu2534Gln)
c.992G>C
c.5052G>C
c.2047G>C (p.Glu683Gln)
c.7981G>C (p.Glu2661Gln)
c.896-29835G>C
c.2812G>C (p.Glu938Gln)
c.7855G>C (p.Glu2619Gln)
n.1784G>C
c.7984G>C (p.Glu2662Gln)
2g.73489940G=CA1260981225ALMS1c.7600G= (p.Glu2534=)
c.992G=
c.5052G=
c.2047G= (p.Glu683=)
c.7981G= (p.Glu2661=)
c.896-29835G=
c.2812G= (p.Glu938=)
c.7855G= (p.Glu2619=)
n.1784G=
c.7984G= (p.Glu2662=)
2g.73489940G>TCA347266731ALMS1c.7600G>T (p.Glu2534Ter)
c.992G>T
c.5052G>T
c.2047G>T (p.Glu683Ter)
c.7981G>T (p.Glu2661Ter)
c.896-29835G>T
c.2812G>T (p.Glu938Ter)
c.7855G>T (p.Glu2619Ter)
n.1784G>T
c.7984G>T (p.Glu2662Ter)
2g.73489941A>CCA347266733ALMS1c.7601A>C (p.Glu2534Ala)
c.993A>C
c.5053A>C
c.2048A>C (p.Glu683Ala)
c.7982A>C (p.Glu2661Ala)
c.896-29834A>C
c.2813A>C (p.Glu938Ala)
c.7856A>C (p.Glu2619Ala)
n.1785A>C
c.7985A>C (p.Glu2662Ala)
2g.73489941A>GCA347266734ALMS1c.7601A>G (p.Glu2534Gly)
c.993A>G
c.5053A>G
c.2048A>G (p.Glu683Gly)
c.7982A>G (p.Glu2661Gly)
c.896-29834A>G
c.2813A>G (p.Glu938Gly)
c.7856A>G (p.Glu2619Gly)
n.1785A>G
c.7985A>G (p.Glu2662Gly)
2g.73489941A>TCA347266735ALMS1c.7601A>T (p.Glu2534Val)
c.993A>T
c.5053A>T
c.2048A>T (p.Glu683Val)
c.7982A>T (p.Glu2661Val)
c.896-29834A>T
c.2813A>T (p.Glu938Val)
c.7856A>T (p.Glu2619Val)
n.1785A>T
c.7985A>T (p.Glu2662Val)
2g.73489942A=CA1260981226ALMS1c.7602A= (p.Glu2534=)
c.994A=
c.5054A=
c.2049A= (p.Glu683=)
c.7983A= (p.Glu2661=)
c.896-29833A=
c.2814A= (p.Glu938=)
c.7857A= (p.Glu2619=)
n.1786A=
c.7986A= (p.Glu2662=)
2g.73489942A>CCA347266737ALMS1c.7602A>C (p.Glu2534Asp)
c.994A>C
c.5054A>C
c.2049A>C (p.Glu683Asp)
c.7983A>C (p.Glu2661Asp)
c.896-29833A>C
c.2814A>C (p.Glu938Asp)
c.7857A>C (p.Glu2619Asp)
n.1786A>C
c.7986A>C (p.Glu2662Asp)
2g.73489942A>GCA427000720ALMS1c.7602A>G (p.Glu2534=)
c.994A>G
c.5054A>G
c.2049A>G (p.Glu683=)
c.7983A>G (p.Glu2661=)
c.896-29833A>G
c.2814A>G (p.Glu938=)
c.7857A>G (p.Glu2619=)
n.1786A>G
c.7986A>G (p.Glu2662=)
 gnomAD v4
2g.73489942A>TCA347266739ALMS1c.7602A>T (p.Glu2534Asp)
c.994A>T
c.5054A>T
c.2049A>T (p.Glu683Asp)
c.7983A>T (p.Glu2661Asp)
c.896-29833A>T
c.2814A>T (p.Glu938Asp)
c.7857A>T (p.Glu2619Asp)
n.1786A>T
c.7986A>T (p.Glu2662Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73489943T>ACA347266743ALMS1c.7603T>A (p.Phe2535Ile)
c.995T>A
c.5055T>A
c.2050T>A (p.Phe684Ile)
c.7984T>A (p.Phe2662Ile)
c.896-29832T>A
c.2815T>A (p.Phe939Ile)
c.7858T>A (p.Phe2620Ile)
n.1787T>A
c.7987T>A (p.Phe2663Ile)
 dbSNP gnomAD v4
2g.73489943T>CCA347266750ALMS1c.7603T>C (p.Phe2535Leu)
c.995T>C
c.5055T>C
c.2050T>C (p.Phe684Leu)
c.7984T>C (p.Phe2662Leu)
c.896-29832T>C
c.2815T>C (p.Phe939Leu)
c.7858T>C (p.Phe2620Leu)
n.1787T>C
c.7987T>C (p.Phe2663Leu)
2g.73489943T>GCA347266754ALMS1c.7603T>G (p.Phe2535Val)
c.995T>G
c.5055T>G
c.2050T>G (p.Phe684Val)
c.7984T>G (p.Phe2662Val)
c.896-29832T>G
c.2815T>G (p.Phe939Val)
c.7858T>G (p.Phe2620Val)
n.1787T>G
c.7987T>G (p.Phe2663Val)
2g.73489943T=CA1260981227ALMS1c.7603T= (p.Phe2535=)
c.995T=
c.5055T=
c.2050T= (p.Phe684=)
c.7984T= (p.Phe2662=)
c.896-29832T=
c.2815T= (p.Phe939=)
c.7858T= (p.Phe2620=)
n.1787T=
c.7987T= (p.Phe2663=)
2g.73489944T>ACA347266759ALMS1c.7604T>A (p.Phe2535Tyr)
c.996T>A
c.5056T>A
c.2051T>A (p.Phe684Tyr)
c.7985T>A (p.Phe2662Tyr)
c.896-29831T>A
c.2816T>A (p.Phe939Tyr)
c.7859T>A (p.Phe2620Tyr)
n.1788T>A
c.7988T>A (p.Phe2663Tyr)
2g.73489944T>CCA347266761ALMS1c.7604T>C (p.Phe2535Ser)
c.996T>C
c.5056T>C
c.2051T>C (p.Phe684Ser)
c.7985T>C (p.Phe2662Ser)
c.896-29831T>C
c.2816T>C (p.Phe939Ser)
c.7859T>C (p.Phe2620Ser)
n.1788T>C
c.7988T>C (p.Phe2663Ser)
2g.73489944T>GCA347266763ALMS1c.7604T>G (p.Phe2535Cys)
c.996T>G
c.5056T>G
c.2051T>G (p.Phe684Cys)
c.7985T>G (p.Phe2662Cys)
c.896-29831T>G
c.2816T>G (p.Phe939Cys)
c.7859T>G (p.Phe2620Cys)
n.1788T>G
c.7988T>G (p.Phe2663Cys)
2g.73489945C>ACA347266769ALMS1c.7605C>A (p.Phe2535Leu)
c.997C>A
c.5057C>A
c.2052C>A (p.Phe684Leu)
c.7986C>A (p.Phe2662Leu)
c.896-29830C>A
c.2817C>A (p.Phe939Leu)
c.7860C>A (p.Phe2620Leu)
n.1789C>A
c.7989C>A (p.Phe2663Leu)
2g.73489945C=CA1260981228ALMS1c.7605C= (p.Phe2535=)
c.997C=
c.5057C=
c.2052C= (p.Phe684=)
c.7986C= (p.Phe2662=)
c.896-29830C=
c.2817C= (p.Phe939=)
c.7860C= (p.Phe2620=)
n.1789C=
c.7989C= (p.Phe2663=)
2g.73489945C>GCA347266766ALMS1c.7605C>G (p.Phe2535Leu)
c.997C>G
c.5057C>G
c.2052C>G (p.Phe684Leu)
c.7986C>G (p.Phe2662Leu)
c.896-29830C>G
c.2817C>G (p.Phe939Leu)
c.7860C>G (p.Phe2620Leu)
n.1789C>G
c.7989C>G (p.Phe2663Leu)
 dbSNP
2g.73489945C>TCA427000721ALMS1c.7605C>T (p.Phe2535=)
c.997C>T
c.5057C>T
c.2052C>T (p.Phe684=)
c.7986C>T (p.Phe2662=)
c.896-29830C>T
c.2817C>T (p.Phe939=)
c.7860C>T (p.Phe2620=)
n.1789C>T
c.7989C>T (p.Phe2663=)
 ClinVar dbSNP gnomAD v4
2g.73489946A>CCA347266772ALMS1c.7606A>C (p.Lys2536Gln)
c.998A>C
c.5058A>C
c.2053A>C (p.Lys685Gln)
c.7987A>C (p.Lys2663Gln)
c.896-29829A>C
c.2818A>C (p.Lys940Gln)
c.7861A>C (p.Lys2621Gln)
n.1790A>C
c.7990A>C (p.Lys2664Gln)
 gnomAD v4
2g.73489946A>GCA347266775ALMS1c.7606A>G (p.Lys2536Glu)
c.998A>G
c.5058A>G
c.2053A>G (p.Lys685Glu)
c.7987A>G (p.Lys2663Glu)
c.896-29829A>G
c.2818A>G (p.Lys940Glu)
c.7861A>G (p.Lys2621Glu)
n.1790A>G
c.7990A>G (p.Lys2664Glu)
2g.73489946A>TCA347266779ALMS1c.7606A>T (p.Lys2536Ter)
c.998A>T
c.5058A>T
c.2053A>T (p.Lys685Ter)
c.7987A>T (p.Lys2663Ter)
c.896-29829A>T
c.2818A>T (p.Lys940Ter)
c.7861A>T (p.Lys2621Ter)
n.1790A>T
c.7990A>T (p.Lys2664Ter)
2g.73489947A>CCA347266782ALMS1c.7607A>C (p.Lys2536Thr)
c.999A>C
c.5059A>C
c.2054A>C (p.Lys685Thr)
c.7988A>C (p.Lys2663Thr)
c.896-29828A>C
c.2819A>C (p.Lys940Thr)
c.7862A>C (p.Lys2621Thr)
n.1791A>C
c.7991A>C (p.Lys2664Thr)
2g.73489947A>GCA347266784ALMS1c.7607A>G (p.Lys2536Arg)
c.999A>G
c.5059A>G
c.2054A>G (p.Lys685Arg)
c.7988A>G (p.Lys2663Arg)
c.896-29828A>G
c.2819A>G (p.Lys940Arg)
c.7862A>G (p.Lys2621Arg)
n.1791A>G
c.7991A>G (p.Lys2664Arg)
2g.73489947A>TCA347266786ALMS1c.7607A>T (p.Lys2536Ile)
c.999A>T
c.5059A>T
c.2054A>T (p.Lys685Ile)
c.7988A>T (p.Lys2663Ile)
c.896-29828A>T
c.2819A>T (p.Lys940Ile)
c.7862A>T (p.Lys2621Ile)
n.1791A>T
c.7991A>T (p.Lys2664Ile)
2g.73489948A=CA1260981229ALMS1c.7608A= (p.Lys2536=)
c.1000A=
c.5060A=
c.2055A= (p.Lys685=)
c.7989A= (p.Lys2663=)
c.896-29827A=
c.2820A= (p.Lys940=)
c.7863A= (p.Lys2621=)
n.1792A=
c.7992A= (p.Lys2664=)
2g.73489948A>CCA347266787ALMS1c.7608A>C (p.Lys2536Asn)
c.1000A>C
c.5060A>C
c.2055A>C (p.Lys685Asn)
c.7989A>C (p.Lys2663Asn)
c.896-29827A>C
c.2820A>C (p.Lys940Asn)
c.7863A>C (p.Lys2621Asn)
n.1792A>C
c.7992A>C (p.Lys2664Asn)
2g.73489948A>GCA427000722ALMS1c.7608A>G (p.Lys2536=)
c.1000A>G
c.5060A>G
c.2055A>G (p.Lys685=)
c.7989A>G (p.Lys2663=)
c.896-29827A>G
c.2820A>G (p.Lys940=)
c.7863A>G (p.Lys2621=)
n.1792A>G
c.7992A>G (p.Lys2664=)
2g.73489948A>TCA1714386ALMS1c.7608A>T (p.Lys2536Asn)
c.1000A>T
c.5060A>T
c.2055A>T (p.Lys685Asn)
c.7989A>T (p.Lys2663Asn)
c.896-29827A>T
c.2820A>T (p.Lys940Asn)
c.7863A>T (p.Lys2621Asn)
n.1792A>T
c.7992A>T (p.Lys2664Asn)
 dbSNP ExAC gnomAD v2
2g.73489949A=CA1260981230ALMS1c.7609A= (p.Ile2537=)
c.1001A=
c.5061A=
c.2056A= (p.Ile686=)
c.7990A= (p.Ile2664=)
c.896-29826A=
c.2821A= (p.Ile941=)
c.7864A= (p.Ile2622=)
n.1793A=
c.7993A= (p.Ile2665=)
2g.73489949A>CCA347266791ALMS1c.7609A>C (p.Ile2537Leu)
c.1001A>C
c.5061A>C
c.2056A>C (p.Ile686Leu)
c.7990A>C (p.Ile2664Leu)
c.896-29826A>C
c.2821A>C (p.Ile941Leu)
c.7864A>C (p.Ile2622Leu)
n.1793A>C
c.7993A>C (p.Ile2665Leu)
2g.73489949A>GCA347266793ALMS1c.7609A>G (p.Ile2537Val)
c.1001A>G
c.5061A>G
c.2056A>G (p.Ile686Val)
c.7990A>G (p.Ile2664Val)
c.896-29826A>G
c.2821A>G (p.Ile941Val)
c.7864A>G (p.Ile2622Val)
n.1793A>G
c.7993A>G (p.Ile2665Val)
 dbSNP gnomAD v4
2g.73489949A>TCA347266795ALMS1c.7609A>T (p.Ile2537Phe)
c.1001A>T
c.5061A>T
c.2056A>T (p.Ile686Phe)
c.7990A>T (p.Ile2664Phe)
c.896-29826A>T
c.2821A>T (p.Ile941Phe)
c.7864A>T (p.Ile2622Phe)
n.1793A>T
c.7993A>T (p.Ile2665Phe)
2g.73489950T>ACA347266797ALMS1c.7610T>A (p.Ile2537Asn)
c.1002T>A
c.5062T>A
c.2057T>A (p.Ile686Asn)
c.7991T>A (p.Ile2664Asn)
c.896-29825T>A
c.2822T>A (p.Ile941Asn)
c.7865T>A (p.Ile2622Asn)
n.1794T>A
c.7994T>A (p.Ile2665Asn)
2g.73489950T>CCA347266799ALMS1c.7610T>C (p.Ile2537Thr)
c.1002T>C
c.5062T>C
c.2057T>C (p.Ile686Thr)
c.7991T>C (p.Ile2664Thr)
c.896-29825T>C
c.2822T>C (p.Ile941Thr)
c.7865T>C (p.Ile2622Thr)
n.1794T>C
c.7994T>C (p.Ile2665Thr)
2g.73489950T>GCA347266801ALMS1c.7610T>G (p.Ile2537Ser)
c.1002T>G
c.5062T>G
c.2057T>G (p.Ile686Ser)
c.7991T>G (p.Ile2664Ser)
c.896-29825T>G
c.2822T>G (p.Ile941Ser)
c.7865T>G (p.Ile2622Ser)
n.1794T>G
c.7994T>G (p.Ile2665Ser)
2g.73489951C>ACA427000723ALMS1c.7611C>A (p.Ile2537=)
c.1003C>A
c.5063C>A
c.2058C>A (p.Ile686=)
c.7992C>A (p.Ile2664=)
c.896-29824C>A
c.2823C>A (p.Ile941=)
c.7866C>A (p.Ile2622=)
n.1795C>A
c.7995C>A (p.Ile2665=)
2g.73489951C>GCA347266802ALMS1c.7611C>G (p.Ile2537Met)
c.1003C>G
c.5063C>G
c.2058C>G (p.Ile686Met)
c.7992C>G (p.Ile2664Met)
c.896-29824C>G
c.2823C>G (p.Ile941Met)
c.7866C>G (p.Ile2622Met)
n.1795C>G
c.7995C>G (p.Ile2665Met)
2g.73489951C>TCA427000724ALMS1c.7611C>T (p.Ile2537=)
c.1003C>T
c.5063C>T
c.2058C>T (p.Ile686=)
c.7992C>T (p.Ile2664=)
c.896-29824C>T
c.2823C>T (p.Ile941=)
c.7866C>T (p.Ile2622=)
n.1795C>T
c.7995C>T (p.Ile2665=)
 gnomAD v4
2g.73489952A>CCA347266803ALMS1c.7612A>C (p.Ser2538Arg)
c.1004A>C
c.5064A>C
c.2059A>C (p.Ser687Arg)
c.7993A>C (p.Ser2665Arg)
c.896-29823A>C
c.2824A>C (p.Ser942Arg)
c.7867A>C (p.Ser2623Arg)
n.1796A>C
c.7996A>C (p.Ser2666Arg)
2g.73489952A>GCA347266807ALMS1c.7612A>G (p.Ser2538Gly)
c.1004A>G
c.5064A>G
c.2059A>G (p.Ser687Gly)
c.7993A>G (p.Ser2665Gly)
c.896-29823A>G
c.2824A>G (p.Ser942Gly)
c.7867A>G (p.Ser2623Gly)
n.1796A>G
c.7996A>G (p.Ser2666Gly)
2g.73489952A>TCA347266809ALMS1c.7612A>T (p.Ser2538Cys)
c.1004A>T
c.5064A>T
c.2059A>T (p.Ser687Cys)
c.7993A>T (p.Ser2665Cys)
c.896-29823A>T
c.2824A>T (p.Ser942Cys)
c.7867A>T (p.Ser2623Cys)
n.1796A>T
c.7996A>T (p.Ser2666Cys)
2g.73489953G>ACA347266812ALMS1c.7613G>A (p.Ser2538Asn)
c.1005G>A
c.5065G>A
c.2060G>A (p.Ser687Asn)
c.7994G>A (p.Ser2665Asn)
c.896-29822G>A
c.2825G>A (p.Ser942Asn)
c.7868G>A (p.Ser2623Asn)
n.1797G>A
c.7997G>A (p.Ser2666Asn)
 dbSNP
2g.73489953G>CCA347266815ALMS1c.7613G>C (p.Ser2538Thr)
c.1005G>C
c.5065G>C
c.2060G>C (p.Ser687Thr)
c.7994G>C (p.Ser2665Thr)
c.896-29822G>C
c.2825G>C (p.Ser942Thr)
c.7868G>C (p.Ser2623Thr)
n.1797G>C
c.7997G>C (p.Ser2666Thr)
 ClinVar dbSNP
2g.73489953G=CA1260981231ALMS1c.7613G= (p.Ser2538=)
c.1005G=
c.5065G=
c.2060G= (p.Ser687=)
c.7994G= (p.Ser2665=)
c.896-29822G=
c.2825G= (p.Ser942=)
c.7868G= (p.Ser2623=)
n.1797G=
c.7997G= (p.Ser2666=)
2g.73489953G>TCA347266817ALMS1c.7613G>T (p.Ser2538Ile)
c.1005G>T
c.5065G>T
c.2060G>T (p.Ser687Ile)
c.7994G>T (p.Ser2665Ile)
c.896-29822G>T
c.2825G>T (p.Ser942Ile)
c.7868G>T (p.Ser2623Ile)
n.1797G>T
c.7997G>T (p.Ser2666Ile)
2g.73489954C>ACA347266819ALMS1c.7614C>A (p.Ser2538Arg)
c.1006C>A
c.5066C>A
c.2061C>A (p.Ser687Arg)
c.7995C>A (p.Ser2665Arg)
c.896-29821C>A
c.2826C>A (p.Ser942Arg)
c.7869C>A (p.Ser2623Arg)
n.1798C>A
c.7998C>A (p.Ser2666Arg)
2g.73489954C>GCA347266821ALMS1c.7614C>G (p.Ser2538Arg)
c.1006C>G
c.5066C>G
c.2061C>G (p.Ser687Arg)
c.7995C>G (p.Ser2665Arg)
c.896-29821C>G
c.2826C>G (p.Ser942Arg)
c.7869C>G (p.Ser2623Arg)
n.1798C>G
c.7998C>G (p.Ser2666Arg)
2g.73489954C>TCA427000725ALMS1c.7614C>T (p.Ser2538=)
c.1006C>T
c.5066C>T
c.2061C>T (p.Ser687=)
c.7995C>T (p.Ser2665=)
c.896-29821C>T
c.2826C>T (p.Ser942=)
c.7869C>T (p.Ser2623=)
n.1798C>T
c.7998C>T (p.Ser2666=)
2g.73489955A=CA1260981232ALMS1c.7615A= (p.Lys2539=)
c.1007A=
c.5067A=
c.2062A= (p.Lys688=)
c.7996A= (p.Lys2666=)
c.896-29820A=
c.2827A= (p.Lys943=)
c.7870A= (p.Lys2624=)
n.1799A=
c.7999A= (p.Lys2667=)
2g.73489955A>CCA347266824ALMS1c.7615A>C (p.Lys2539Gln)
c.1007A>C
c.5067A>C
c.2062A>C (p.Lys688Gln)
c.7996A>C (p.Lys2666Gln)
c.896-29820A>C
c.2827A>C (p.Lys943Gln)
c.7870A>C (p.Lys2624Gln)
n.1799A>C
c.7999A>C (p.Lys2667Gln)
2g.73489955A>GCA347266825ALMS1c.7615A>G (p.Lys2539Glu)
c.1007A>G
c.5067A>G
c.2062A>G (p.Lys688Glu)
c.7996A>G (p.Lys2666Glu)
c.896-29820A>G
c.2827A>G (p.Lys943Glu)
c.7870A>G (p.Lys2624Glu)
n.1799A>G
c.7999A>G (p.Lys2667Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.73489955A>TCA347266826ALMS1c.7615A>T (p.Lys2539Ter)
c.1007A>T
c.5067A>T
c.2062A>T (p.Lys688Ter)
c.7996A>T (p.Lys2666Ter)
c.896-29820A>T
c.2827A>T (p.Lys943Ter)
c.7870A>T (p.Lys2624Ter)
n.1799A>T
c.7999A>T (p.Lys2667Ter)
2g.73489957dupCA913090801ALMS1c.7617dup (p.Gly2540ArgfsTer8)
c.1009dup
c.5069dup
c.2064dup (p.Gly689ArgfsTer8)
c.7998dup (p.Gly2667ArgfsTer8)
c.896-29818dup
c.2829dup (p.Gly944ArgfsTer8)
c.7872dup (p.Gly2625ArgfsTer8)
n.1801dup
c.8001dup (p.Gly2668ArgfsTer8)
2g.73489956A>CCA347266829ALMS1c.7616A>C (p.Lys2539Thr)
c.1008A>C
c.5068A>C
c.2063A>C (p.Lys688Thr)
c.7997A>C (p.Lys2666Thr)
c.896-29819A>C
c.2828A>C (p.Lys943Thr)
c.7871A>C (p.Lys2624Thr)
n.1800A>C
c.8000A>C (p.Lys2667Thr)
 ClinVar dbSNP
2g.73489956A>GCA347266832ALMS1c.7616A>G (p.Lys2539Arg)
c.1008A>G
c.5068A>G
c.2063A>G (p.Lys688Arg)
c.7997A>G (p.Lys2666Arg)
c.896-29819A>G
c.2828A>G (p.Lys943Arg)
c.7871A>G (p.Lys2624Arg)
n.1800A>G
c.8000A>G (p.Lys2667Arg)
 gnomAD v4
2g.73489956A>TCA347266835ALMS1c.7616A>T (p.Lys2539Ile)
c.1008A>T
c.5068A>T
c.2063A>T (p.Lys688Ile)
c.7997A>T (p.Lys2666Ile)
c.896-29819A>T
c.2828A>T (p.Lys943Ile)
c.7871A>T (p.Lys2624Ile)
n.1800A>T
c.8000A>T (p.Lys2667Ile)
2g.73489957_73489972dupCA658821972ALMS1c.7617_7632dup (p.Phe2545ArgfsTer8)
c.1009_1024dup
c.5069_5084dup
c.2064_2079dup (p.Phe694ArgfsTer8)
c.7998_8013dup (p.Phe2672ArgfsTer8)
c.896-29818_896-29803dup
c.2829_2844dup (p.Phe949ArgfsTer8)
c.7872_7887dup (p.Phe2630ArgfsTer8)
n.1801_1816dup
c.8001_8016dup (p.Phe2673ArgfsTer8)
 ClinVar dbSNP
2g.73489957A>CCA347266840ALMS1c.7617A>C (p.Lys2539Asn)
c.1009A>C
c.5069A>C
c.2064A>C (p.Lys688Asn)
c.7998A>C (p.Lys2666Asn)
c.896-29818A>C
c.2829A>C (p.Lys943Asn)
c.7872A>C (p.Lys2624Asn)
n.1801A>C
c.8001A>C (p.Lys2667Asn)
2g.73489957A>GCA427000726ALMS1c.7617A>G (p.Lys2539=)
c.1009A>G
c.5069A>G
c.2064A>G (p.Lys688=)
c.7998A>G (p.Lys2666=)
c.896-29818A>G
c.2829A>G (p.Lys943=)
c.7872A>G (p.Lys2624=)
n.1801A>G
c.8001A>G (p.Lys2667=)
 ClinVar
2g.73489957A>TCA347266837ALMS1c.7617A>T (p.Lys2539Asn)
c.1009A>T
c.5069A>T
c.2064A>T (p.Lys688Asn)
c.7998A>T (p.Lys2666Asn)
c.896-29818A>T
c.2829A>T (p.Lys943Asn)
c.7872A>T (p.Lys2624Asn)
n.1801A>T
c.8001A>T (p.Lys2667Asn)
2g.73489958G>ACA347266842ALMS1c.7618G>A (p.Gly2540Ser)
c.1010G>A
c.5070G>A
c.2065G>A (p.Gly689Ser)
c.7999G>A (p.Gly2667Ser)
c.896-29817G>A
c.2830G>A (p.Gly944Ser)
c.7873G>A (p.Gly2625Ser)
n.1802G>A
c.8002G>A (p.Gly2668Ser)
2g.73489958G>CCA347266847ALMS1c.7618G>C (p.Gly2540Arg)
c.1010G>C
c.5070G>C
c.2065G>C (p.Gly689Arg)
c.7999G>C (p.Gly2667Arg)
c.896-29817G>C
c.2830G>C (p.Gly944Arg)
c.7873G>C (p.Gly2625Arg)
n.1802G>C
c.8002G>C (p.Gly2668Arg)
 ClinVar
2g.73489958G>TCA347266845ALMS1c.7618G>T (p.Gly2540Cys)
c.1010G>T
c.5070G>T
c.2065G>T (p.Gly689Cys)
c.7999G>T (p.Gly2667Cys)
c.896-29817G>T
c.2830G>T (p.Gly944Cys)
c.7873G>T (p.Gly2625Cys)
n.1802G>T
c.8002G>T (p.Gly2668Cys)
2g.73489959G>ACA347266848ALMS1c.7619G>A (p.Gly2540Asp)
c.1011G>A
c.5071G>A
c.2066G>A (p.Gly689Asp)
c.8000G>A (p.Gly2667Asp)
c.896-29816G>A
c.2831G>A (p.Gly944Asp)
c.7874G>A (p.Gly2625Asp)
n.1803G>A
c.8003G>A (p.Gly2668Asp)
 gnomAD v4
2g.73489959G>CCA347266850ALMS1c.7619G>C (p.Gly2540Ala)
c.1011G>C
c.5071G>C
c.2066G>C (p.Gly689Ala)
c.8000G>C (p.Gly2667Ala)
c.896-29816G>C
c.2831G>C (p.Gly944Ala)
c.7874G>C (p.Gly2625Ala)
n.1803G>C
c.8003G>C (p.Gly2668Ala)
2g.73489959G>TCA347266849ALMS1c.7619G>T (p.Gly2540Val)
c.1011G>T
c.5071G>T
c.2066G>T (p.Gly689Val)
c.8000G>T (p.Gly2667Val)
c.896-29816G>T
c.2831G>T (p.Gly944Val)
c.7874G>T (p.Gly2625Val)
n.1803G>T
c.8003G>T (p.Gly2668Val)
2g.73489960T>ACA427000727ALMS1c.7620T>A (p.Gly2540=)
c.1012T>A
c.5072T>A
c.2067T>A (p.Gly689=)
c.8001T>A (p.Gly2667=)
c.896-29815T>A
c.2832T>A (p.Gly944=)
c.7875T>A (p.Gly2625=)
n.1804T>A
c.8004T>A (p.Gly2668=)
 gnomAD v4
2g.73489960T>CCA427000728ALMS1c.7620T>C (p.Gly2540=)
c.1012T>C
c.5072T>C
c.2067T>C (p.Gly689=)
c.8001T>C (p.Gly2667=)
c.896-29815T>C
c.2832T>C (p.Gly944=)
c.7875T>C (p.Gly2625=)
n.1804T>C
c.8004T>C (p.Gly2668=)
2g.73489960T>GCA427000729ALMS1c.7620T>G (p.Gly2540=)
c.1012T>G
c.5072T>G
c.2067T>G (p.Gly689=)
c.8001T>G (p.Gly2667=)
c.896-29815T>G
c.2832T>G (p.Gly944=)
c.7875T>G (p.Gly2625=)
n.1804T>G
c.8004T>G (p.Gly2668=)
2g.73489961C>ACA347266852ALMS1c.7621C>A (p.Leu2541Ile)
c.1013C>A
c.5073C>A
c.2068C>A (p.Leu690Ile)
c.8002C>A (p.Leu2668Ile)
c.896-29814C>A
c.2833C>A (p.Leu945Ile)
c.7876C>A (p.Leu2626Ile)
n.1805C>A
c.8005C>A (p.Leu2669Ile)
2g.73489961C>GCA347266856ALMS1c.7621C>G (p.Leu2541Val)
c.1013C>G
c.5073C>G
c.2068C>G (p.Leu690Val)
c.8002C>G (p.Leu2668Val)
c.896-29814C>G
c.2833C>G (p.Leu945Val)
c.7876C>G (p.Leu2626Val)
n.1805C>G
c.8005C>G (p.Leu2669Val)
2g.73489961C>TCA347266855ALMS1c.7621C>T (p.Leu2541Phe)
c.1013C>T
c.5073C>T
c.2068C>T (p.Leu690Phe)
c.8002C>T (p.Leu2668Phe)
c.896-29814C>T
c.2833C>T (p.Leu945Phe)
c.7876C>T (p.Leu2626Phe)
n.1805C>T
c.8005C>T (p.Leu2669Phe)
 ClinVar
2g.73489962T>ACA347266857ALMS1c.7622T>A (p.Leu2541His)
c.1014T>A
c.5074T>A
c.2069T>A (p.Leu690His)
c.8003T>A (p.Leu2668His)
c.896-29813T>A
c.2834T>A (p.Leu945His)
c.7877T>A (p.Leu2626His)
n.1806T>A
c.8006T>A (p.Leu2669His)
2g.73489962T>CCA347266859ALMS1c.7622T>C (p.Leu2541Pro)
c.1014T>C
c.5074T>C
c.2069T>C (p.Leu690Pro)
c.8003T>C (p.Leu2668Pro)
c.896-29813T>C
c.2834T>C (p.Leu945Pro)
c.7877T>C (p.Leu2626Pro)
n.1806T>C
c.8006T>C (p.Leu2669Pro)
2g.73489962T>GCA347266858ALMS1c.7622T>G (p.Leu2541Arg)
c.1014T>G
c.5074T>G
c.2069T>G (p.Leu690Arg)
c.8003T>G (p.Leu2668Arg)
c.896-29813T>G
c.2834T>G (p.Leu945Arg)
c.7877T>G (p.Leu2626Arg)
n.1806T>G
c.8006T>G (p.Leu2669Arg)
2g.73489963T>ACA427000730ALMS1c.7623T>A (p.Leu2541=)
c.1015T>A
c.5075T>A
c.2070T>A (p.Leu690=)
c.8004T>A (p.Leu2668=)
c.896-29812T>A
c.2835T>A (p.Leu945=)
c.7878T>A (p.Leu2626=)
n.1807T>A
c.8007T>A (p.Leu2669=)
2g.73489963T>CCA427000731ALMS1c.7623T>C (p.Leu2541=)
c.1015T>C
c.5075T>C
c.2070T>C (p.Leu690=)
c.8004T>C (p.Leu2668=)
c.896-29812T>C
c.2835T>C (p.Leu945=)
c.7878T>C (p.Leu2626=)
n.1807T>C
c.8007T>C (p.Leu2669=)
2g.73489963T>GCA427000732ALMS1c.7623T>G (p.Leu2541=)
c.1015T>G
c.5075T>G
c.2070T>G (p.Leu690=)
c.8004T>G (p.Leu2668=)
c.896-29812T>G
c.2835T>G (p.Leu945=)
c.7878T>G (p.Leu2626=)
n.1807T>G
c.8007T>G (p.Leu2669=)
2g.73489964C>ACA427000733ALMS1c.7624C>A (p.Arg2542=)
c.1016C>A
c.5076C>A
c.2071C>A (p.Arg691=)
c.8005C>A (p.Arg2669=)
c.896-29811C>A
c.2836C>A (p.Arg946=)
c.7879C>A (p.Arg2627=)
n.1808C>A
c.8008C>A (p.Arg2670=)
2g.73489964C=CA1260981233ALMS1c.7624C= (p.Arg2542=)
c.1016C=
c.5076C=
c.2071C= (p.Arg691=)
c.8005C= (p.Arg2669=)
c.896-29811C=
c.2836C= (p.Arg946=)
c.7879C= (p.Arg2627=)
n.1808C=
c.8008C= (p.Arg2670=)
2g.73489964C>GCA1714387ALMS1c.7624C>G (p.Arg2542Gly)
c.1016C>G
c.5076C>G
c.2071C>G (p.Arg691Gly)
c.8005C>G (p.Arg2669Gly)
c.896-29811C>G
c.2836C>G (p.Arg946Gly)
c.7879C>G (p.Arg2627Gly)
n.1808C>G
c.8008C>G (p.Arg2670Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489964C>TCA347266861ALMS1c.7624C>T (p.Arg2542Ter)
c.1016C>T
c.5076C>T
c.2071C>T (p.Arg691Ter)
c.8005C>T (p.Arg2669Ter)
c.896-29811C>T
c.2836C>T (p.Arg946Ter)
c.7879C>T (p.Arg2627Ter)
n.1808C>T
c.8008C>T (p.Arg2670Ter)
 ClinVar dbSNP gnomAD v4
2g.73489965G>ACA50377816ALMS1c.7625G>A (p.Arg2542Gln)
c.1017G>A
c.5077G>A
c.2072G>A (p.Arg691Gln)
c.8006G>A (p.Arg2669Gln)
c.896-29810G>A
c.2837G>A (p.Arg946Gln)
c.7880G>A (p.Arg2627Gln)
n.1809G>A
c.8009G>A (p.Arg2670Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489965G>CCA347266866ALMS1c.7625G>C (p.Arg2542Pro)
c.1017G>C
c.5077G>C
c.2072G>C (p.Arg691Pro)
c.8006G>C (p.Arg2669Pro)
c.896-29810G>C
c.2837G>C (p.Arg946Pro)
c.7880G>C (p.Arg2627Pro)
n.1809G>C
c.8009G>C (p.Arg2670Pro)
2g.73489965G=CA1260981234ALMS1c.7625G= (p.Arg2542=)
c.1017G=
c.5077G=
c.2072G= (p.Arg691=)
c.8006G= (p.Arg2669=)
c.896-29810G=
c.2837G= (p.Arg946=)
c.7880G= (p.Arg2627=)
n.1809G=
c.8009G= (p.Arg2670=)
2g.73489965G>TCA347266863ALMS1c.7625G>T (p.Arg2542Leu)
c.1017G>T
c.5077G>T
c.2072G>T (p.Arg691Leu)
c.8006G>T (p.Arg2669Leu)
c.896-29810G>T
c.2837G>T (p.Arg946Leu)
c.7880G>T (p.Arg2627Leu)
n.1809G>T
c.8009G>T (p.Arg2670Leu)
2g.73489966A>CCA427000734ALMS1c.7626A>C (p.Arg2542=)
c.1018A>C
c.5078A>C
c.2073A>C (p.Arg691=)
c.8007A>C (p.Arg2669=)
c.896-29809A>C
c.2838A>C (p.Arg946=)
c.7881A>C (p.Arg2627=)
n.1810A>C
c.8010A>C (p.Arg2670=)
2g.73489966A>GCA427000736ALMS1c.7626A>G (p.Arg2542=)
c.1018A>G
c.5078A>G
c.2073A>G (p.Arg691=)
c.8007A>G (p.Arg2669=)
c.896-29809A>G
c.2838A>G (p.Arg946=)
c.7881A>G (p.Arg2627=)
n.1810A>G
c.8010A>G (p.Arg2670=)
2g.73489966A>TCA427000735ALMS1c.7626A>T (p.Arg2542=)
c.1018A>T
c.5078A>T
c.2073A>T (p.Arg691=)
c.8007A>T (p.Arg2669=)
c.896-29809A>T
c.2838A>T (p.Arg946=)
c.7881A>T (p.Arg2627=)
n.1810A>T
c.8010A>T (p.Arg2670=)
2g.73489967A>CCA347266868ALMS1c.7627A>C (p.Met2543Leu)
c.1019A>C
c.5079A>C
c.2074A>C (p.Met692Leu)
c.8008A>C (p.Met2670Leu)
c.896-29808A>C
c.2839A>C (p.Met947Leu)
c.7882A>C (p.Met2628Leu)
n.1811A>C
c.8011A>C (p.Met2671Leu)
2g.73489967A>GCA347266871ALMS1c.7627A>G (p.Met2543Val)
c.1019A>G
c.5079A>G
c.2074A>G (p.Met692Val)
c.8008A>G (p.Met2670Val)
c.896-29808A>G
c.2839A>G (p.Met947Val)
c.7882A>G (p.Met2628Val)
n.1811A>G
c.8011A>G (p.Met2671Val)
2g.73489967A>TCA347266872ALMS1c.7627A>T (p.Met2543Leu)
c.1019A>T
c.5079A>T
c.2074A>T (p.Met692Leu)
c.8008A>T (p.Met2670Leu)
c.896-29808A>T
c.2839A>T (p.Met947Leu)
c.7882A>T (p.Met2628Leu)
n.1811A>T
c.8011A>T (p.Met2671Leu)
2g.73489968T>ACA347266875ALMS1c.7628T>A (p.Met2543Lys)
c.1020T>A
c.5080T>A
c.2075T>A (p.Met692Lys)
c.8009T>A (p.Met2670Lys)
c.896-29807T>A
c.2840T>A (p.Met947Lys)
c.7883T>A (p.Met2628Lys)
n.1812T>A
c.8012T>A (p.Met2671Lys)
2g.73489968T>CCA347266877ALMS1c.7628T>C (p.Met2543Thr)
c.1020T>C
c.5080T>C
c.2075T>C (p.Met692Thr)
c.8009T>C (p.Met2670Thr)
c.896-29807T>C
c.2840T>C (p.Met947Thr)
c.7883T>C (p.Met2628Thr)
n.1812T>C
c.8012T>C (p.Met2671Thr)
2g.73489968T>GCA347266880ALMS1c.7628T>G (p.Met2543Arg)
c.1020T>G
c.5080T>G
c.2075T>G (p.Met692Arg)
c.8009T>G (p.Met2670Arg)
c.896-29807T>G
c.2840T>G (p.Met947Arg)
c.7883T>G (p.Met2628Arg)
n.1812T>G
c.8012T>G (p.Met2671Arg)
2g.73489969G>ACA347266882ALMS1c.7629G>A (p.Met2543Ile)
c.1021G>A
c.5081G>A
c.2076G>A (p.Met692Ile)
c.8010G>A (p.Met2670Ile)
c.896-29806G>A
c.2841G>A (p.Met947Ile)
c.7884G>A (p.Met2628Ile)
n.1813G>A
c.8013G>A (p.Met2671Ile)
 gnomAD v4
2g.73489969G>CCA347266884ALMS1c.7629G>C (p.Met2543Ile)
c.1021G>C
c.5081G>C
c.2076G>C (p.Met692Ile)
c.8010G>C (p.Met2670Ile)
c.896-29806G>C
c.2841G>C (p.Met947Ile)
c.7884G>C (p.Met2628Ile)
n.1813G>C
c.8013G>C (p.Met2671Ile)
2g.73489969G>TCA347266887ALMS1c.7629G>T (p.Met2543Ile)
c.1021G>T
c.5081G>T
c.2076G>T (p.Met692Ile)
c.8010G>T (p.Met2670Ile)
c.896-29806G>T
c.2841G>T (p.Met947Ile)
c.7884G>T (p.Met2628Ile)
n.1813G>T
c.8013G>T (p.Met2671Ile)
2g.73489970C>ACA347266890ALMS1c.7630C>A (p.Pro2544Thr)
c.1022C>A
c.5082C>A
c.2077C>A (p.Pro693Thr)
c.8011C>A (p.Pro2671Thr)
c.896-29805C>A
c.2842C>A (p.Pro948Thr)
c.7885C>A (p.Pro2629Thr)
n.1814C>A
c.8014C>A (p.Pro2672Thr)
 dbSNP
2g.73489970C>GCA347266894ALMS1c.7630C>G (p.Pro2544Ala)
c.1022C>G
c.5082C>G
c.2077C>G (p.Pro693Ala)
c.8011C>G (p.Pro2671Ala)
c.896-29805C>G
c.2842C>G (p.Pro948Ala)
c.7885C>G (p.Pro2629Ala)
n.1814C>G
c.8014C>G (p.Pro2672Ala)
 gnomAD v4
2g.73489970C>TCA347266895ALMS1c.7630C>T (p.Pro2544Ser)
c.1022C>T
c.5082C>T
c.2077C>T (p.Pro693Ser)
c.8011C>T (p.Pro2671Ser)
c.896-29805C>T
c.2842C>T (p.Pro948Ser)
c.7885C>T (p.Pro2629Ser)
n.1814C>T
c.8014C>T (p.Pro2672Ser)
2g.73489971C>ACA347266901ALMS1c.7631C>A (p.Pro2544Gln)
c.1023C>A
c.5083C>A
c.2078C>A (p.Pro693Gln)
c.8012C>A (p.Pro2671Gln)
c.896-29804C>A
c.2843C>A (p.Pro948Gln)
c.7886C>A (p.Pro2629Gln)
n.1815C>A
c.8015C>A (p.Pro2672Gln)
2g.73489971C=CA1260981235ALMS1c.7631C= (p.Pro2544=)
c.1023C=
c.5083C=
c.2078C= (p.Pro693=)
c.8012C= (p.Pro2671=)
c.896-29804C=
c.2843C= (p.Pro948=)
c.7886C= (p.Pro2629=)
n.1815C=
c.8015C= (p.Pro2672=)
2g.73489971C>GCA347266897ALMS1c.7631C>G (p.Pro2544Arg)
c.1023C>G
c.5083C>G
c.2078C>G (p.Pro693Arg)
c.8012C>G (p.Pro2671Arg)
c.896-29804C>G
c.2843C>G (p.Pro948Arg)
c.7886C>G (p.Pro2629Arg)
n.1815C>G
c.8015C>G (p.Pro2672Arg)
2g.73489971C>TCA50377826ALMS1c.7631C>T (p.Pro2544Leu)
c.1023C>T
c.5083C>T
c.2078C>T (p.Pro693Leu)
c.8012C>T (p.Pro2671Leu)
c.896-29804C>T
c.2843C>T (p.Pro948Leu)
c.7886C>T (p.Pro2629Leu)
n.1815C>T
c.8015C>T (p.Pro2672Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489972delCA2750465614ALMS1c.7632del (p.Phe2545SerfsTer12)
c.1024del
c.5084del
c.2079del (p.Phe694SerfsTer12)
c.8013del (p.Phe2672SerfsTer12)
c.896-29803del
c.2844del (p.Phe949SerfsTer12)
c.7887del (p.Phe2630SerfsTer12)
n.1816del
c.8016del (p.Phe2673SerfsTer12)
2g.73489972A=CA1260981236ALMS1c.7632A= (p.Pro2544=)
c.1024A=
c.5084A=
c.2079A= (p.Pro693=)
c.8013A= (p.Pro2671=)
c.896-29803A=
c.2844A= (p.Pro948=)
c.7887A= (p.Pro2629=)
n.1816A=
c.8016A= (p.Pro2672=)
2g.73489972A>CCA427000737ALMS1c.7632A>C (p.Pro2544=)
c.1024A>C
c.5084A>C
c.2079A>C (p.Pro693=)
c.8013A>C (p.Pro2671=)
c.896-29803A>C
c.2844A>C (p.Pro948=)
c.7887A>C (p.Pro2629=)
n.1816A>C
c.8016A>C (p.Pro2672=)
 ClinVar dbSNP
2g.73489972A>GCA427000738ALMS1c.7632A>G (p.Pro2544=)
c.1024A>G
c.5084A>G
c.2079A>G (p.Pro693=)
c.8013A>G (p.Pro2671=)
c.896-29803A>G
c.2844A>G (p.Pro948=)
c.7887A>G (p.Pro2629=)
n.1816A>G
c.8016A>G (p.Pro2672=)
 dbSNP gnomAD v4
2g.73489972A>TCA427000739ALMS1c.7632A>T (p.Pro2544=)
c.1024A>T
c.5084A>T
c.2079A>T (p.Pro693=)
c.8013A>T (p.Pro2671=)
c.896-29803A>T
c.2844A>T (p.Pro948=)
c.7887A>T (p.Pro2629=)
n.1816A>T
c.8016A>T (p.Pro2672=)
2g.73489973T>ACA347266906ALMS1c.7633T>A (p.Phe2545Ile)
c.1025T>A
c.5085T>A
c.2080T>A (p.Phe694Ile)
c.8014T>A (p.Phe2672Ile)
c.896-29802T>A
c.2845T>A (p.Phe949Ile)
c.7888T>A (p.Phe2630Ile)
n.1817T>A
c.8017T>A (p.Phe2673Ile)
2g.73489973T>CCA50377836ALMS1c.7633T>C (p.Phe2545Leu)
c.1025T>C
c.5085T>C
c.2080T>C (p.Phe694Leu)
c.8014T>C (p.Phe2672Leu)
c.896-29802T>C
c.2845T>C (p.Phe949Leu)
c.7888T>C (p.Phe2630Leu)
n.1817T>C
c.8017T>C (p.Phe2673Leu)
 dbSNP
2g.73489973T>GCA347266910ALMS1c.7633T>G (p.Phe2545Val)
c.1025T>G
c.5085T>G
c.2080T>G (p.Phe694Val)
c.8014T>G (p.Phe2672Val)
c.896-29802T>G
c.2845T>G (p.Phe949Val)
c.7888T>G (p.Phe2630Val)
n.1817T>G
c.8017T>G (p.Phe2673Val)
2g.73489973T=CA1260981237ALMS1c.7633T= (p.Phe2545=)
c.1025T=
c.5085T=
c.2080T= (p.Phe694=)
c.8014T= (p.Phe2672=)
c.896-29802T=
c.2845T= (p.Phe949=)
c.7888T= (p.Phe2630=)
n.1817T=
c.8017T= (p.Phe2673=)
2g.73489974T>ACA347266913ALMS1c.7634T>A (p.Phe2545Tyr)
c.1026T>A
c.5086T>A
c.2081T>A (p.Phe694Tyr)
c.8015T>A (p.Phe2672Tyr)
c.896-29801T>A
c.2846T>A (p.Phe949Tyr)
c.7889T>A (p.Phe2630Tyr)
n.1818T>A
c.8018T>A (p.Phe2673Tyr)
2g.73489974T>CCA347266915ALMS1c.7634T>C (p.Phe2545Ser)
c.1026T>C
c.5086T>C
c.2081T>C (p.Phe694Ser)
c.8015T>C (p.Phe2672Ser)
c.896-29801T>C
c.2846T>C (p.Phe949Ser)
c.7889T>C (p.Phe2630Ser)
n.1818T>C
c.8018T>C (p.Phe2673Ser)
2g.73489974T>GCA347266918ALMS1c.7634T>G (p.Phe2545Cys)
c.1026T>G
c.5086T>G
c.2081T>G (p.Phe694Cys)
c.8015T>G (p.Phe2672Cys)
c.896-29801T>G
c.2846T>G (p.Phe949Cys)
c.7889T>G (p.Phe2630Cys)
n.1818T>G
c.8018T>G (p.Phe2673Cys)
2g.73489975C>ACA347266921ALMS1c.7635C>A (p.Phe2545Leu)
c.1027C>A
c.5087C>A
c.2082C>A (p.Phe694Leu)
c.8016C>A (p.Phe2672Leu)
c.896-29800C>A
c.2847C>A (p.Phe949Leu)
c.7890C>A (p.Phe2630Leu)
n.1819C>A
c.8019C>A (p.Phe2673Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.73489975C=CA1260981238ALMS1c.7635C= (p.Phe2545=)
c.1027C=
c.5087C=
c.2082C= (p.Phe694=)
c.8016C= (p.Phe2672=)
c.896-29800C=
c.2847C= (p.Phe949=)
c.7890C= (p.Phe2630=)
n.1819C=
c.8019C= (p.Phe2673=)
2g.73489975C>GCA347266925ALMS1c.7635C>G (p.Phe2545Leu)
c.1027C>G
c.5087C>G
c.2082C>G (p.Phe694Leu)
c.8016C>G (p.Phe2672Leu)
c.896-29800C>G
c.2847C>G (p.Phe949Leu)
c.7890C>G (p.Phe2630Leu)
n.1819C>G
c.8019C>G (p.Phe2673Leu)
 gnomAD v4
2g.73489975C>TCA1714388ALMS1c.7635C>T (p.Phe2545=)
c.1027C>T
c.5087C>T
c.2082C>T (p.Phe694=)
c.8016C>T (p.Phe2672=)
c.896-29800C>T
c.2847C>T (p.Phe949=)
c.7890C>T (p.Phe2630=)
n.1819C>T
c.8019C>T (p.Phe2673=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489975_73489976insAATGCCACA2586969429ALMS1c.7635_7636insAATGCCA (p.Asp2546AsnfsTer4)
c.1027_1028insAATGCCA
c.5087_5088insAATGCCA
c.2082_2083insAATGCCA (p.Asp695AsnfsTer4)
c.8016_8017insAATGCCA (p.Asp2673AsnfsTer4)
c.896-29800_896-29799insAATGCCA
c.2847_2848insAATGCCA (p.Asp950AsnfsTer4)
c.7890_7891insAATGCCA (p.Asp2631AsnfsTer4)
n.1819_1820insAATGCCA
c.8019_8020insAATGCCA (p.Asp2674AsnfsTer4)
2g.73489976G>ACA1714390ALMS1c.7636G>A (p.Asp2546Asn)
c.1028G>A
c.5088G>A
c.2083G>A (p.Asp695Asn)
c.8017G>A (p.Asp2673Asn)
c.896-29799G>A
c.2848G>A (p.Asp950Asn)
c.7891G>A (p.Asp2631Asn)
n.1820G>A
c.8020G>A (p.Asp2674Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489976G>CCA1714389ALMS1c.7636G>C (p.Asp2546His)
c.1028G>C
c.5088G>C
c.2083G>C (p.Asp695His)
c.8017G>C (p.Asp2673His)
c.896-29799G>C
c.2848G>C (p.Asp950His)
c.7891G>C (p.Asp2631His)
n.1820G>C
c.8020G>C (p.Asp2674His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489976G=CA1260981239ALMS1c.7636G= (p.Asp2546=)
c.1028G=
c.5088G=
c.2083G= (p.Asp695=)
c.8017G= (p.Asp2673=)
c.896-29799G=
c.2848G= (p.Asp950=)
c.7891G= (p.Asp2631=)
n.1820G=
c.8020G= (p.Asp2674=)
2g.73489976G>TCA347266933ALMS1c.7636G>T (p.Asp2546Tyr)
c.1028G>T
c.5088G>T
c.2083G>T (p.Asp695Tyr)
c.8017G>T (p.Asp2673Tyr)
c.896-29799G>T
c.2848G>T (p.Asp950Tyr)
c.7891G>T (p.Asp2631Tyr)
n.1820G>T
c.8020G>T (p.Asp2674Tyr)
 dbSNP
2g.73489976_73489977delinsCCCA2573135756ALMS1c.7636_7637delinsCC (p.Asp2546Pro)
c.1028_1029delinsCC
c.5088_5089delinsCC
c.2083_2084delinsCC (p.Asp695Pro)
c.8017_8018delinsCC (p.Asp2673Pro)
c.896-29799_896-29798delinsCC
c.2848_2849delinsCC (p.Asp950Pro)
c.7891_7892delinsCC (p.Asp2631Pro)
n.1820_1821delinsCC
c.8020_8021delinsCC (p.Asp2674Pro)
 ClinVar dbSNP

Number of alleles fetched