Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.73489977A=CA1260981240ALMS1c.7637A= (p.Asp2546=)
c.1029A=
c.5089A=
c.2084A= (p.Asp695=)
c.8018A= (p.Asp2673=)
c.896-29798A=
c.2849A= (p.Asp950=)
c.7892A= (p.Asp2631=)
n.1821A=
c.8021A= (p.Asp2674=)
2g.73489977A>CCA347266941ALMS1c.7637A>C (p.Asp2546Ala)
c.1029A>C
c.5089A>C
c.2084A>C (p.Asp695Ala)
c.8018A>C (p.Asp2673Ala)
c.896-29798A>C
c.2849A>C (p.Asp950Ala)
c.7892A>C (p.Asp2631Ala)
n.1821A>C
c.8021A>C (p.Asp2674Ala)
 gnomAD v4
2g.73489977A>GCA1714391ALMS1c.7637A>G (p.Asp2546Gly)
c.1029A>G
c.5089A>G
c.2084A>G (p.Asp695Gly)
c.8018A>G (p.Asp2673Gly)
c.896-29798A>G
c.2849A>G (p.Asp950Gly)
c.7892A>G (p.Asp2631Gly)
n.1821A>G
c.8021A>G (p.Asp2674Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489977A>TCA347266937ALMS1c.7637A>T (p.Asp2546Val)
c.1029A>T
c.5089A>T
c.2084A>T (p.Asp695Val)
c.8018A>T (p.Asp2673Val)
c.896-29798A>T
c.2849A>T (p.Asp950Val)
c.7892A>T (p.Asp2631Val)
n.1821A>T
c.8021A>T (p.Asp2674Val)
2g.73489978T>ACA347266945ALMS1c.7638T>A (p.Asp2546Glu)
c.1030T>A
c.5090T>A
c.2085T>A (p.Asp695Glu)
c.8019T>A (p.Asp2673Glu)
c.896-29797T>A
c.2850T>A (p.Asp950Glu)
c.7893T>A (p.Asp2631Glu)
n.1822T>A
c.8022T>A (p.Asp2674Glu)
 ClinVar
2g.73489978T>CCA427000740ALMS1c.7638T>C (p.Asp2546=)
c.1030T>C
c.5090T>C
c.2085T>C (p.Asp695=)
c.8019T>C (p.Asp2673=)
c.896-29797T>C
c.2850T>C (p.Asp950=)
c.7893T>C (p.Asp2631=)
n.1822T>C
c.8022T>C (p.Asp2674=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73489978T>GCA347266943ALMS1c.7638T>G (p.Asp2546Glu)
c.1030T>G
c.5090T>G
c.2085T>G (p.Asp695Glu)
c.8019T>G (p.Asp2673Glu)
c.896-29797T>G
c.2850T>G (p.Asp950Glu)
c.7893T>G (p.Asp2631Glu)
n.1822T>G
c.8022T>G (p.Asp2674Glu)
2g.73489978T=CA1260981241ALMS1c.7638T= (p.Asp2546=)
c.1030T=
c.5090T=
c.2085T= (p.Asp695=)
c.8019T= (p.Asp2673=)
c.896-29797T=
c.2850T= (p.Asp950=)
c.7893T= (p.Asp2631=)
n.1822T=
c.8022T= (p.Asp2674=)
2g.73489979G>ACA347266948ALMS1c.7639G>A (p.Glu2547Lys)
c.1031G>A
c.5091G>A
c.2086G>A (p.Glu696Lys)
c.8020G>A (p.Glu2674Lys)
c.896-29796G>A
c.2851G>A (p.Glu951Lys)
c.7894G>A (p.Glu2632Lys)
n.1823G>A
c.8023G>A (p.Glu2675Lys)
2g.73489979G>CCA347266949ALMS1c.7639G>C (p.Glu2547Gln)
c.1031G>C
c.5091G>C
c.2086G>C (p.Glu696Gln)
c.8020G>C (p.Glu2674Gln)
c.896-29796G>C
c.2851G>C (p.Glu951Gln)
c.7894G>C (p.Glu2632Gln)
n.1823G>C
c.8023G>C (p.Glu2675Gln)
2g.73489979G>TCA347266952ALMS1c.7639G>T (p.Glu2547Ter)
c.1031G>T
c.5091G>T
c.2086G>T (p.Glu696Ter)
c.8020G>T (p.Glu2674Ter)
c.896-29796G>T
c.2851G>T (p.Glu951Ter)
c.7894G>T (p.Glu2632Ter)
n.1823G>T
c.8023G>T (p.Glu2675Ter)
2g.73489980A>CCA347266954ALMS1c.7640A>C (p.Glu2547Ala)
c.1032A>C
c.5092A>C
c.2087A>C (p.Glu696Ala)
c.8021A>C (p.Glu2674Ala)
c.896-29795A>C
c.2852A>C (p.Glu951Ala)
c.7895A>C (p.Glu2632Ala)
n.1824A>C
c.8024A>C (p.Glu2675Ala)
2g.73489980A>GCA347266957ALMS1c.7640A>G (p.Glu2547Gly)
c.1032A>G
c.5092A>G
c.2087A>G (p.Glu696Gly)
c.8021A>G (p.Glu2674Gly)
c.896-29795A>G
c.2852A>G (p.Glu951Gly)
c.7895A>G (p.Glu2632Gly)
n.1824A>G
c.8024A>G (p.Glu2675Gly)
 ClinVar dbSNP gnomAD v4
2g.73489980A>TCA347266959ALMS1c.7640A>T (p.Glu2547Val)
c.1032A>T
c.5092A>T
c.2087A>T (p.Glu696Val)
c.8021A>T (p.Glu2674Val)
c.896-29795A>T
c.2852A>T (p.Glu951Val)
c.7895A>T (p.Glu2632Val)
n.1824A>T
c.8024A>T (p.Glu2675Val)
2g.73489981A>CCA347266962ALMS1c.7641A>C (p.Glu2547Asp)
c.1033A>C
c.5093A>C
c.2088A>C (p.Glu696Asp)
c.8022A>C (p.Glu2674Asp)
c.896-29794A>C
c.2853A>C (p.Glu951Asp)
c.7896A>C (p.Glu2632Asp)
n.1825A>C
c.8025A>C (p.Glu2675Asp)
2g.73489981A>GCA427000741ALMS1c.7641A>G (p.Glu2547=)
c.1033A>G
c.5093A>G
c.2088A>G (p.Glu696=)
c.8022A>G (p.Glu2674=)
c.896-29794A>G
c.2853A>G (p.Glu951=)
c.7896A>G (p.Glu2632=)
n.1825A>G
c.8025A>G (p.Glu2675=)
2g.73489981A>TCA347266963ALMS1c.7641A>T (p.Glu2547Asp)
c.1033A>T
c.5093A>T
c.2088A>T (p.Glu696Asp)
c.8022A>T (p.Glu2674Asp)
c.896-29794A>T
c.2853A>T (p.Glu951Asp)
c.7896A>T (p.Glu2632Asp)
n.1825A>T
c.8025A>T (p.Glu2675Asp)
2g.73489982A>CCA347266967ALMS1c.7642A>C (p.Lys2548Gln)
c.1034A>C
c.5094A>C
c.2089A>C (p.Lys697Gln)
c.8023A>C (p.Lys2675Gln)
c.896-29793A>C
c.2854A>C (p.Lys952Gln)
c.7897A>C (p.Lys2633Gln)
n.1826A>C
c.8026A>C (p.Lys2676Gln)
2g.73489982A>GCA347266969ALMS1c.7642A>G (p.Lys2548Glu)
c.1034A>G
c.5094A>G
c.2089A>G (p.Lys697Glu)
c.8023A>G (p.Lys2675Glu)
c.896-29793A>G
c.2854A>G (p.Lys952Glu)
c.7897A>G (p.Lys2633Glu)
n.1826A>G
c.8026A>G (p.Lys2676Glu)
2g.73489982A>TCA347266972ALMS1c.7642A>T (p.Lys2548Ter)
c.1034A>T
c.5094A>T
c.2089A>T (p.Lys697Ter)
c.8023A>T (p.Lys2675Ter)
c.896-29793A>T
c.2854A>T (p.Lys952Ter)
c.7897A>T (p.Lys2633Ter)
n.1826A>T
c.8026A>T (p.Lys2676Ter)
2g.73489983A>CCA347266979ALMS1c.7643A>C (p.Lys2548Thr)
c.1035A>C
c.5095A>C
c.2090A>C (p.Lys697Thr)
c.8024A>C (p.Lys2675Thr)
c.896-29792A>C
c.2855A>C (p.Lys952Thr)
c.7898A>C (p.Lys2633Thr)
n.1827A>C
c.8027A>C (p.Lys2676Thr)
2g.73489983A>GCA347266982ALMS1c.7643A>G (p.Lys2548Arg)
c.1035A>G
c.5095A>G
c.2090A>G (p.Lys697Arg)
c.8024A>G (p.Lys2675Arg)
c.896-29792A>G
c.2855A>G (p.Lys952Arg)
c.7898A>G (p.Lys2633Arg)
n.1827A>G
c.8027A>G (p.Lys2676Arg)
2g.73489983A>TCA347266976ALMS1c.7643A>T (p.Lys2548Met)
c.1035A>T
c.5095A>T
c.2090A>T (p.Lys697Met)
c.8024A>T (p.Lys2675Met)
c.896-29792A>T
c.2855A>T (p.Lys952Met)
c.7898A>T (p.Lys2633Met)
n.1827A>T
c.8027A>T (p.Lys2676Met)
2g.73489984G>ACA427000742ALMS1c.7644G>A (p.Lys2548=)
c.1036G>A
c.5096G>A
c.2091G>A (p.Lys697=)
c.8025G>A (p.Lys2675=)
c.896-29791G>A
c.2856G>A (p.Lys952=)
c.7899G>A (p.Lys2633=)
n.1828G>A
c.8028G>A (p.Lys2676=)
2g.73489984G>CCA347266984ALMS1c.7644G>C (p.Lys2548Asn)
c.1036G>C
c.5096G>C
c.2091G>C (p.Lys697Asn)
c.8025G>C (p.Lys2675Asn)
c.896-29791G>C
c.2856G>C (p.Lys952Asn)
c.7899G>C (p.Lys2633Asn)
n.1828G>C
c.8028G>C (p.Lys2676Asn)
 ClinVar dbSNP
2g.73489984G>TCA347266987ALMS1c.7644G>T (p.Lys2548Asn)
c.1036G>T
c.5096G>T
c.2091G>T (p.Lys697Asn)
c.8025G>T (p.Lys2675Asn)
c.896-29791G>T
c.2856G>T (p.Lys952Asn)
c.7899G>T (p.Lys2633Asn)
n.1828G>T
c.8028G>T (p.Lys2676Asn)
2g.73489985A=CA1260981242ALMS1c.7645A= (p.Met2549=)
c.1037A=
c.5097A=
c.2092A= (p.Met698=)
c.8026A= (p.Met2676=)
c.896-29790A=
c.2857A= (p.Met953=)
c.7900A= (p.Met2634=)
n.1829A=
c.8029A= (p.Met2677=)
2g.73489985A>CCA347266991ALMS1c.7645A>C (p.Met2549Leu)
c.1037A>C
c.5097A>C
c.2092A>C (p.Met698Leu)
c.8026A>C (p.Met2676Leu)
c.896-29790A>C
c.2857A>C (p.Met953Leu)
c.7900A>C (p.Met2634Leu)
n.1829A>C
c.8029A>C (p.Met2677Leu)
2g.73489985A>GCA1714392ALMS1c.7645A>G (p.Met2549Val)
c.1037A>G
c.5097A>G
c.2092A>G (p.Met698Val)
c.8026A>G (p.Met2676Val)
c.896-29790A>G
c.2857A>G (p.Met953Val)
c.7900A>G (p.Met2634Val)
n.1829A>G
c.8029A>G (p.Met2677Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489985A>TCA347266994ALMS1c.7645A>T (p.Met2549Leu)
c.1037A>T
c.5097A>T
c.2092A>T (p.Met698Leu)
c.8026A>T (p.Met2676Leu)
c.896-29790A>T
c.2857A>T (p.Met953Leu)
c.7900A>T (p.Met2634Leu)
n.1829A>T
c.8029A>T (p.Met2677Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489986T>ACA347267002ALMS1c.7646T>A (p.Met2549Lys)
c.1038T>A
c.5098T>A
c.2093T>A (p.Met698Lys)
c.8027T>A (p.Met2676Lys)
c.896-29789T>A
c.2858T>A (p.Met953Lys)
c.7901T>A (p.Met2634Lys)
n.1830T>A
c.8030T>A (p.Met2677Lys)
2g.73489986T>CCA347266998ALMS1c.7646T>C (p.Met2549Thr)
c.1038T>C
c.5098T>C
c.2093T>C (p.Met698Thr)
c.8027T>C (p.Met2676Thr)
c.896-29789T>C
c.2858T>C (p.Met953Thr)
c.7901T>C (p.Met2634Thr)
n.1830T>C
c.8030T>C (p.Met2677Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.73489986T>GCA347267000ALMS1c.7646T>G (p.Met2549Arg)
c.1038T>G
c.5098T>G
c.2093T>G (p.Met698Arg)
c.8027T>G (p.Met2676Arg)
c.896-29789T>G
c.2858T>G (p.Met953Arg)
c.7901T>G (p.Met2634Arg)
n.1830T>G
c.8030T>G (p.Met2677Arg)
2g.73489986T=CA1260981243ALMS1c.7646T= (p.Met2549=)
c.1038T=
c.5098T=
c.2093T= (p.Met698=)
c.8027T= (p.Met2676=)
c.896-29789T=
c.2858T= (p.Met953=)
c.7901T= (p.Met2634=)
n.1830T=
c.8030T= (p.Met2677=)
2g.73489987G>ACA50377874ALMS1c.7647G>A (p.Met2549Ile)
c.1039G>A
c.5099G>A
c.2094G>A (p.Met698Ile)
c.8028G>A (p.Met2676Ile)
c.896-29788G>A
c.2859G>A (p.Met953Ile)
c.7902G>A (p.Met2634Ile)
n.1831G>A
c.8031G>A (p.Met2677Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73489987G>CCA347267007ALMS1c.7647G>C (p.Met2549Ile)
c.1039G>C
c.5099G>C
c.2094G>C (p.Met698Ile)
c.8028G>C (p.Met2676Ile)
c.896-29788G>C
c.2859G>C (p.Met953Ile)
c.7902G>C (p.Met2634Ile)
n.1831G>C
c.8031G>C (p.Met2677Ile)
2g.73489987G=CA1260981244ALMS1c.7647G= (p.Met2549=)
c.1039G=
c.5099G=
c.2094G= (p.Met698=)
c.8028G= (p.Met2676=)
c.896-29788G=
c.2859G= (p.Met953=)
c.7902G= (p.Met2634=)
n.1831G=
c.8031G= (p.Met2677=)
2g.73489987G>TCA347267010ALMS1c.7647G>T (p.Met2549Ile)
c.1039G>T
c.5099G>T
c.2094G>T (p.Met698Ile)
c.8028G>T (p.Met2676Ile)
c.896-29788G>T
c.2859G>T (p.Met953Ile)
c.7902G>T (p.Met2634Ile)
n.1831G>T
c.8031G>T (p.Met2677Ile)
2g.73489988G>ACA347267013ALMS1c.7648G>A (p.Asp2550Asn)
c.1040G>A
c.5100G>A
c.2095G>A (p.Asp699Asn)
c.8029G>A (p.Asp2677Asn)
c.896-29787G>A
c.2860G>A (p.Asp954Asn)
c.7903G>A (p.Asp2635Asn)
n.1832G>A
c.8032G>A (p.Asp2678Asn)
2g.73489988G>CCA347267016ALMS1c.7648G>C (p.Asp2550His)
c.1040G>C
c.5100G>C
c.2095G>C (p.Asp699His)
c.8029G>C (p.Asp2677His)
c.896-29787G>C
c.2860G>C (p.Asp954His)
c.7903G>C (p.Asp2635His)
n.1832G>C
c.8032G>C (p.Asp2678His)
2g.73489988G>TCA347267018ALMS1c.7648G>T (p.Asp2550Tyr)
c.1040G>T
c.5100G>T
c.2095G>T (p.Asp699Tyr)
c.8029G>T (p.Asp2677Tyr)
c.896-29787G>T
c.2860G>T (p.Asp954Tyr)
c.7903G>T (p.Asp2635Tyr)
n.1832G>T
c.8032G>T (p.Asp2678Tyr)
2g.73489989A=CA1260981245ALMS1c.7649A= (p.Asp2550=)
c.1041A=
c.5101A=
c.2096A= (p.Asp699=)
c.8030A= (p.Asp2677=)
c.896-29786A=
c.2861A= (p.Asp954=)
c.7904A= (p.Asp2635=)
n.1833A=
c.8033A= (p.Asp2678=)
2g.73489989A>CCA50377881ALMS1c.7649A>C (p.Asp2550Ala)
c.1041A>C
c.5101A>C
c.2096A>C (p.Asp699Ala)
c.8030A>C (p.Asp2677Ala)
c.896-29786A>C
c.2861A>C (p.Asp954Ala)
c.7904A>C (p.Asp2635Ala)
n.1833A>C
c.8033A>C (p.Asp2678Ala)
 dbSNP
2g.73489989A>GCA347267029ALMS1c.7649A>G (p.Asp2550Gly)
c.1041A>G
c.5101A>G
c.2096A>G (p.Asp699Gly)
c.8030A>G (p.Asp2677Gly)
c.896-29786A>G
c.2861A>G (p.Asp954Gly)
c.7904A>G (p.Asp2635Gly)
n.1833A>G
c.8033A>G (p.Asp2678Gly)
2g.73489989A>TCA347267022ALMS1c.7649A>T (p.Asp2550Val)
c.1041A>T
c.5101A>T
c.2096A>T (p.Asp699Val)
c.8030A>T (p.Asp2677Val)
c.896-29786A>T
c.2861A>T (p.Asp954Val)
c.7904A>T (p.Asp2635Val)
n.1833A>T
c.8033A>T (p.Asp2678Val)
2g.73489990C>ACA1714393ALMS1c.7650C>A (p.Asp2550Glu)
c.1042C>A
c.5102C>A
c.2097C>A (p.Asp699Glu)
c.8031C>A (p.Asp2677Glu)
c.896-29785C>A
c.2862C>A (p.Asp954Glu)
c.7905C>A (p.Asp2635Glu)
n.1834C>A
c.8034C>A (p.Asp2678Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489990C=CA1260981246ALMS1c.7650C= (p.Asp2550=)
c.1042C=
c.5102C=
c.2097C= (p.Asp699=)
c.8031C= (p.Asp2677=)
c.896-29785C=
c.2862C= (p.Asp954=)
c.7905C= (p.Asp2635=)
n.1834C=
c.8034C= (p.Asp2678=)
2g.73489990C>GCA347267032ALMS1c.7650C>G (p.Asp2550Glu)
c.1042C>G
c.5102C>G
c.2097C>G (p.Asp699Glu)
c.8031C>G (p.Asp2677Glu)
c.896-29785C>G
c.2862C>G (p.Asp954Glu)
c.7905C>G (p.Asp2635Glu)
n.1834C>G
c.8034C>G (p.Asp2678Glu)
2g.73489990C>TCA427000743ALMS1c.7650C>T (p.Asp2550=)
c.1042C>T
c.5102C>T
c.2097C>T (p.Asp699=)
c.8031C>T (p.Asp2677=)
c.896-29785C>T
c.2862C>T (p.Asp954=)
c.7905C>T (p.Asp2635=)
n.1834C>T
c.8034C>T (p.Asp2678=)
 ClinVar dbSNP gnomAD v4
2g.73489991C>ACA347267037ALMS1c.7651C>A (p.Pro2551Thr)
c.1043C>A
c.5103C>A
c.2098C>A (p.Pro700Thr)
c.8032C>A (p.Pro2678Thr)
c.896-29784C>A
c.2863C>A (p.Pro955Thr)
c.7906C>A (p.Pro2636Thr)
n.1835C>A
c.8035C>A (p.Pro2679Thr)
2g.73489991C>GCA347267039ALMS1c.7651C>G (p.Pro2551Ala)
c.1043C>G
c.5103C>G
c.2098C>G (p.Pro700Ala)
c.8032C>G (p.Pro2678Ala)
c.896-29784C>G
c.2863C>G (p.Pro955Ala)
c.7906C>G (p.Pro2636Ala)
n.1835C>G
c.8035C>G (p.Pro2679Ala)
2g.73489991C>TCA347267041ALMS1c.7651C>T (p.Pro2551Ser)
c.1043C>T
c.5103C>T
c.2098C>T (p.Pro700Ser)
c.8032C>T (p.Pro2678Ser)
c.896-29784C>T
c.2863C>T (p.Pro955Ser)
c.7906C>T (p.Pro2636Ser)
n.1835C>T
c.8035C>T (p.Pro2679Ser)
 gnomAD v4
2g.73489992C>ACA347267049ALMS1c.7652C>A (p.Pro2551His)
c.1044C>A
c.5104C>A
c.2099C>A (p.Pro700His)
c.8033C>A (p.Pro2678His)
c.896-29783C>A
c.2864C>A (p.Pro955His)
c.7907C>A (p.Pro2636His)
n.1836C>A
c.8036C>A (p.Pro2679His)
2g.73489992C>GCA347267047ALMS1c.7652C>G (p.Pro2551Arg)
c.1044C>G
c.5104C>G
c.2099C>G (p.Pro700Arg)
c.8033C>G (p.Pro2678Arg)
c.896-29783C>G
c.2864C>G (p.Pro955Arg)
c.7907C>G (p.Pro2636Arg)
n.1836C>G
c.8036C>G (p.Pro2679Arg)
2g.73489992C>TCA347267045ALMS1c.7652C>T (p.Pro2551Leu)
c.1044C>T
c.5104C>T
c.2099C>T (p.Pro700Leu)
c.8033C>T (p.Pro2678Leu)
c.896-29783C>T
c.2864C>T (p.Pro955Leu)
c.7907C>T (p.Pro2636Leu)
n.1836C>T
c.8036C>T (p.Pro2679Leu)
2g.73489993T>ACA427000744ALMS1c.7653T>A (p.Pro2551=)
c.1045T>A
c.5105T>A
c.2100T>A (p.Pro700=)
c.8034T>A (p.Pro2678=)
c.896-29782T>A
c.2865T>A (p.Pro955=)
c.7908T>A (p.Pro2636=)
n.1837T>A
c.8037T>A (p.Pro2679=)
2g.73489993T>CCA427000745ALMS1c.7653T>C (p.Pro2551=)
c.1045T>C
c.5105T>C
c.2100T>C (p.Pro700=)
c.8034T>C (p.Pro2678=)
c.896-29782T>C
c.2865T>C (p.Pro955=)
c.7908T>C (p.Pro2636=)
n.1837T>C
c.8037T>C (p.Pro2679=)
2g.73489993T>GCA427000746ALMS1c.7653T>G (p.Pro2551=)
c.1045T>G
c.5105T>G
c.2100T>G (p.Pro700=)
c.8034T>G (p.Pro2678=)
c.896-29782T>G
c.2865T>G (p.Pro955=)
c.7908T>G (p.Pro2636=)
n.1837T>G
c.8037T>G (p.Pro2679=)
2g.73489994T>ACA347267053ALMS1c.7654T>A (p.Trp2552Arg)
c.1046T>A
c.5106T>A
c.2101T>A (p.Trp701Arg)
c.8035T>A (p.Trp2679Arg)
c.896-29781T>A
c.2866T>A (p.Trp956Arg)
c.7909T>A (p.Trp2637Arg)
n.1838T>A
c.8038T>A (p.Trp2680Arg)
2g.73489994T>CCA347267054ALMS1c.7654T>C (p.Trp2552Arg)
c.1046T>C
c.5106T>C
c.2101T>C (p.Trp701Arg)
c.8035T>C (p.Trp2679Arg)
c.896-29781T>C
c.2866T>C (p.Trp956Arg)
c.7909T>C (p.Trp2637Arg)
n.1838T>C
c.8038T>C (p.Trp2680Arg)
2g.73489994T>GCA347267057ALMS1c.7654T>G (p.Trp2552Gly)
c.1046T>G
c.5106T>G
c.2101T>G (p.Trp701Gly)
c.8035T>G (p.Trp2679Gly)
c.896-29781T>G
c.2866T>G (p.Trp956Gly)
c.7909T>G (p.Trp2637Gly)
n.1838T>G
c.8038T>G (p.Trp2680Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489994T=CA1260981247ALMS1c.7654T= (p.Trp2552=)
c.1046T=
c.5106T=
c.2101T= (p.Trp701=)
c.8035T= (p.Trp2679=)
c.896-29781T=
c.2866T= (p.Trp956=)
c.7909T= (p.Trp2637=)
n.1838T=
c.8038T= (p.Trp2680=)
2g.73489995G>ACA347267059ALMS1c.7655G>A (p.Trp2552Ter)
c.1047G>A
c.5107G>A
c.2102G>A (p.Trp701Ter)
c.8036G>A (p.Trp2679Ter)
c.896-29780G>A
c.2867G>A (p.Trp956Ter)
c.7910G>A (p.Trp2637Ter)
n.1839G>A
c.8039G>A (p.Trp2680Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.73489995G>CCA347267061ALMS1c.7655G>C (p.Trp2552Ser)
c.1047G>C
c.5107G>C
c.2102G>C (p.Trp701Ser)
c.8036G>C (p.Trp2679Ser)
c.896-29780G>C
c.2867G>C (p.Trp956Ser)
c.7910G>C (p.Trp2637Ser)
n.1839G>C
c.8039G>C (p.Trp2680Ser)
2g.73489995G=CA1260981249ALMS1c.7655G= (p.Trp2552=)
c.1047G=
c.5107G=
c.2102G= (p.Trp701=)
c.8036G= (p.Trp2679=)
c.896-29780G=
c.2867G= (p.Trp956=)
c.7910G= (p.Trp2637=)
n.1839G=
c.8039G= (p.Trp2680=)
2g.73489995G>TCA347267064ALMS1c.7655G>T (p.Trp2552Leu)
c.1047G>T
c.5107G>T
c.2102G>T (p.Trp701Leu)
c.8036G>T (p.Trp2679Leu)
c.896-29780G>T
c.2867G>T (p.Trp956Leu)
c.7910G>T (p.Trp2637Leu)
n.1839G>T
c.8039G>T (p.Trp2680Leu)
2g.73489996G>ACA347267073ALMS1c.7656G>A (p.Trp2552Ter)
c.1048G>A
c.5108G>A
c.2103G>A (p.Trp701Ter)
c.8037G>A (p.Trp2679Ter)
c.896-29779G>A
c.2868G>A (p.Trp956Ter)
c.7911G>A (p.Trp2637Ter)
n.1840G>A
c.8040G>A (p.Trp2680Ter)
 gnomAD v4
2g.73489996G>CCA347267067ALMS1c.7656G>C (p.Trp2552Cys)
c.1048G>C
c.5108G>C
c.2103G>C (p.Trp701Cys)
c.8037G>C (p.Trp2679Cys)
c.896-29779G>C
c.2868G>C (p.Trp956Cys)
c.7911G>C (p.Trp2637Cys)
n.1840G>C
c.8040G>C (p.Trp2680Cys)
2g.73489996G>TCA347267071ALMS1c.7656G>T (p.Trp2552Cys)
c.1048G>T
c.5108G>T
c.2103G>T (p.Trp701Cys)
c.8037G>T (p.Trp2679Cys)
c.896-29779G>T
c.2868G>T (p.Trp956Cys)
c.7911G>T (p.Trp2637Cys)
n.1840G>T
c.8040G>T (p.Trp2680Cys)
2g.73489997C>ACA50377901ALMS1c.7657C>A (p.Leu2553Met)
c.1049C>A
c.5109C>A
c.2104C>A (p.Leu702Met)
c.8038C>A (p.Leu2680Met)
c.896-29778C>A
c.2869C>A (p.Leu957Met)
c.7912C>A (p.Leu2638Met)
n.1841C>A
c.8041C>A (p.Leu2681Met)
 dbSNP gnomAD v4
2g.73489997C=CA1260981250ALMS1c.7657C= (p.Leu2553=)
c.1049C=
c.5109C=
c.2104C= (p.Leu702=)
c.8038C= (p.Leu2680=)
c.896-29778C=
c.2869C= (p.Leu957=)
c.7912C= (p.Leu2638=)
n.1841C=
c.8041C= (p.Leu2681=)
2g.73489997C>GCA347267077ALMS1c.7657C>G (p.Leu2553Val)
c.1049C>G
c.5109C>G
c.2104C>G (p.Leu702Val)
c.8038C>G (p.Leu2680Val)
c.896-29778C>G
c.2869C>G (p.Leu957Val)
c.7912C>G (p.Leu2638Val)
n.1841C>G
c.8041C>G (p.Leu2681Val)
2g.73489997C>TCA50377909ALMS1c.7657C>T (p.Leu2553=)
c.1049C>T
c.5109C>T
c.2104C>T (p.Leu702=)
c.8038C>T (p.Leu2680=)
c.896-29778C>T
c.2869C>T (p.Leu957=)
c.7912C>T (p.Leu2638=)
n.1841C>T
c.8041C>T (p.Leu2681=)
 dbSNP
2g.73489998T>ACA347267083ALMS1c.7658T>A (p.Leu2553Gln)
c.1050T>A
c.5110T>A
c.2105T>A (p.Leu702Gln)
c.8039T>A (p.Leu2680Gln)
c.896-29777T>A
c.2870T>A (p.Leu957Gln)
c.7913T>A (p.Leu2638Gln)
n.1842T>A
c.8042T>A (p.Leu2681Gln)
2g.73489998T>CCA347267085ALMS1c.7658T>C (p.Leu2553Pro)
c.1050T>C
c.5110T>C
c.2105T>C (p.Leu702Pro)
c.8039T>C (p.Leu2680Pro)
c.896-29777T>C
c.2870T>C (p.Leu957Pro)
c.7913T>C (p.Leu2638Pro)
n.1842T>C
c.8042T>C (p.Leu2681Pro)
2g.73489998T>GCA347267088ALMS1c.7658T>G (p.Leu2553Arg)
c.1050T>G
c.5110T>G
c.2105T>G (p.Leu702Arg)
c.8039T>G (p.Leu2680Arg)
c.896-29777T>G
c.2870T>G (p.Leu957Arg)
c.7913T>G (p.Leu2638Arg)
n.1842T>G
c.8042T>G (p.Leu2681Arg)
2g.73489999G>ACA427000747ALMS1c.7659G>A (p.Leu2553=)
c.1051G>A
c.5111G>A
c.2106G>A (p.Leu702=)
c.8040G>A (p.Leu2680=)
c.896-29776G>A
c.2871G>A (p.Leu957=)
c.7914G>A (p.Leu2638=)
n.1843G>A
c.8043G>A (p.Leu2681=)
2g.73489999G>CCA427000748ALMS1c.7659G>C (p.Leu2553=)
c.1051G>C
c.5111G>C
c.2106G>C (p.Leu702=)
c.8040G>C (p.Leu2680=)
c.896-29776G>C
c.2871G>C (p.Leu957=)
c.7914G>C (p.Leu2638=)
n.1843G>C
c.8043G>C (p.Leu2681=)
2g.73489999G=CA1260981253ALMS1c.7659G= (p.Leu2553=)
c.1051G=
c.5111G=
c.2106G= (p.Leu702=)
c.8040G= (p.Leu2680=)
c.896-29776G=
c.2871G= (p.Leu957=)
c.7914G= (p.Leu2638=)
n.1843G=
c.8043G= (p.Leu2681=)
2g.73489999G>TCA1714394ALMS1c.7659G>T (p.Leu2553=)
c.1051G>T
c.5111G>T
c.2106G>T (p.Leu702=)
c.8040G>T (p.Leu2680=)
c.896-29776G>T
c.2871G>T (p.Leu957=)
c.7914G>T (p.Leu2638=)
n.1843G>T
c.8043G>T (p.Leu2681=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490000T>ACA347267092ALMS1c.7660T>A (p.Ser2554Thr)
c.1052T>A
c.5112T>A
c.2107T>A (p.Ser703Thr)
c.8041T>A (p.Ser2681Thr)
c.896-29775T>A
c.2872T>A (p.Ser958Thr)
c.7915T>A (p.Ser2639Thr)
n.1844T>A
c.8044T>A (p.Ser2682Thr)
2g.73490000T>CCA347267095ALMS1c.7660T>C (p.Ser2554Pro)
c.1052T>C
c.5112T>C
c.2107T>C (p.Ser703Pro)
c.8041T>C (p.Ser2681Pro)
c.896-29775T>C
c.2872T>C (p.Ser958Pro)
c.7915T>C (p.Ser2639Pro)
n.1844T>C
c.8044T>C (p.Ser2682Pro)
2g.73490000T>GCA347267097ALMS1c.7660T>G (p.Ser2554Ala)
c.1052T>G
c.5112T>G
c.2107T>G (p.Ser703Ala)
c.8041T>G (p.Ser2681Ala)
c.896-29775T>G
c.2872T>G (p.Ser958Ala)
c.7915T>G (p.Ser2639Ala)
n.1844T>G
c.8044T>G (p.Ser2682Ala)
2g.73490000_73490001insATTAGAATTAGCA2573135757ALMS1c.7660_7661insATTAGAATTAG (p.Ser2554TyrfsTer2)
c.1052_1053insATTAGAATTAG
c.5112_5113insATTAGAATTAG
c.2107_2108insATTAGAATTAG (p.Ser703TyrfsTer2)
c.8041_8042insATTAGAATTAG (p.Ser2681TyrfsTer2)
c.896-29775_896-29774insATTAGAATTAG
c.2872_2873insATTAGAATTAG (p.Ser958TyrfsTer2)
c.7915_7916insATTAGAATTAG (p.Ser2639TyrfsTer2)
n.1844_1845insATTAGAATTAG
c.8044_8045insATTAGAATTAG (p.Ser2682TyrfsTer2)
 dbSNP
2g.73490001C>ACA347267101ALMS1c.7661C>A (p.Ser2554Ter)
c.1053C>A
c.5113C>A
c.2108C>A (p.Ser703Ter)
c.8042C>A (p.Ser2681Ter)
c.896-29774C>A
c.2873C>A (p.Ser958Ter)
c.7916C>A (p.Ser2639Ter)
n.1845C>A
c.8045C>A (p.Ser2682Ter)
2g.73490001C>GCA347267103ALMS1c.7661C>G (p.Ser2554Ter)
c.1053C>G
c.5113C>G
c.2108C>G (p.Ser703Ter)
c.8042C>G (p.Ser2681Ter)
c.896-29774C>G
c.2873C>G (p.Ser958Ter)
c.7916C>G (p.Ser2639Ter)
n.1845C>G
c.8045C>G (p.Ser2682Ter)
 ClinVar gnomAD v4
2g.73490001C>TCA347267105ALMS1c.7661C>T (p.Ser2554Leu)
c.1053C>T
c.5113C>T
c.2108C>T (p.Ser703Leu)
c.8042C>T (p.Ser2681Leu)
c.896-29774C>T
c.2873C>T (p.Ser958Leu)
c.7916C>T (p.Ser2639Leu)
n.1845C>T
c.8045C>T (p.Ser2682Leu)
2g.73490001_73490002delinsCACA1260981255ALMS1c.7661_7662delinsCA (p.Ser2554=)
c.1053_1054delinsCA
c.5113_5114delinsCA
c.2108_2109delinsCA (p.Ser703=)
c.8042_8043delinsCA (p.Ser2681=)
c.896-29774_896-29773delinsCA
c.2873_2874delinsCA (p.Ser958=)
c.7916_7917delinsCA (p.Ser2639=)
n.1845_1846delinsCA
c.8045_8046delinsCA (p.Ser2682=)
2g.73490002delCA1260981259ALMS1c.7662del (p.Glu2555AsnfsTer2)
c.1054del
c.5114del
c.2109del (p.Glu704AsnfsTer2)
c.8043del (p.Glu2682AsnfsTer2)
c.896-29773del
c.2874del (p.Glu959AsnfsTer2)
c.7917del (p.Glu2640AsnfsTer2)
n.1846del
c.8046del (p.Glu2683AsnfsTer2)
 dbSNP
2g.73490002A=CA1260981260ALMS1c.7662A= (p.Ser2554=)
c.1054A=
c.5114A=
c.2109A= (p.Ser703=)
c.8043A= (p.Ser2681=)
c.896-29773A=
c.2874A= (p.Ser958=)
c.7917A= (p.Ser2639=)
n.1846A=
c.8046A= (p.Ser2682=)
2g.73490002A>CCA427000749ALMS1c.7662A>C (p.Ser2554=)
c.1054A>C
c.5114A>C
c.2109A>C (p.Ser703=)
c.8043A>C (p.Ser2681=)
c.896-29773A>C
c.2874A>C (p.Ser958=)
c.7917A>C (p.Ser2639=)
n.1846A>C
c.8046A>C (p.Ser2682=)
2g.73490002A>GCA427000750ALMS1c.7662A>G (p.Ser2554=)
c.1054A>G
c.5114A>G
c.2109A>G (p.Ser703=)
c.8043A>G (p.Ser2681=)
c.896-29773A>G
c.2874A>G (p.Ser958=)
c.7917A>G (p.Ser2639=)
n.1846A>G
c.8046A>G (p.Ser2682=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73490002A>TCA427000751ALMS1c.7662A>T (p.Ser2554=)
c.1054A>T
c.5114A>T
c.2109A>T (p.Ser703=)
c.8043A>T (p.Ser2681=)
c.896-29773A>T
c.2874A>T (p.Ser958=)
c.7917A>T (p.Ser2639=)
n.1846A>T
c.8046A>T (p.Ser2682=)
2g.73490003G>ACA347267108ALMS1c.7663G>A (p.Glu2555Lys)
c.1055G>A
c.5115G>A
c.2110G>A (p.Glu704Lys)
c.8044G>A (p.Glu2682Lys)
c.896-29772G>A
c.2875G>A (p.Glu959Lys)
c.7918G>A (p.Glu2640Lys)
n.1847G>A
c.8047G>A (p.Glu2683Lys)
2g.73490003G>CCA50377918ALMS1c.7663G>C (p.Glu2555Gln)
c.1055G>C
c.5115G>C
c.2110G>C (p.Glu704Gln)
c.8044G>C (p.Glu2682Gln)
c.896-29772G>C
c.2875G>C (p.Glu959Gln)
c.7918G>C (p.Glu2640Gln)
n.1847G>C
c.8047G>C (p.Glu2683Gln)
 ClinVar dbSNP gnomAD v4
2g.73490003G=CA1260981265ALMS1c.7663G= (p.Glu2555=)
c.1055G=
c.5115G=
c.2110G= (p.Glu704=)
c.8044G= (p.Glu2682=)
c.896-29772G=
c.2875G= (p.Glu959=)
c.7918G= (p.Glu2640=)
n.1847G=
c.8047G= (p.Glu2683=)
2g.73490003G>TCA1714395ALMS1c.7663G>T (p.Glu2555Ter)
c.1055G>T
c.5115G>T
c.2110G>T (p.Glu704Ter)
c.8044G>T (p.Glu2682Ter)
c.896-29772G>T
c.2875G>T (p.Glu959Ter)
c.7918G>T (p.Glu2640Ter)
n.1847G>T
c.8047G>T (p.Glu2683Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490004A>CCA347267113ALMS1c.7664A>C (p.Glu2555Ala)
c.1056A>C
c.5116A>C
c.2111A>C (p.Glu704Ala)
c.8045A>C (p.Glu2682Ala)
c.896-29771A>C
c.2876A>C (p.Glu959Ala)
c.7919A>C (p.Glu2640Ala)
n.1848A>C
c.8048A>C (p.Glu2683Ala)
2g.73490004A>GCA347267117ALMS1c.7664A>G (p.Glu2555Gly)
c.1056A>G
c.5116A>G
c.2111A>G (p.Glu704Gly)
c.8045A>G (p.Glu2682Gly)
c.896-29771A>G
c.2876A>G (p.Glu959Gly)
c.7919A>G (p.Glu2640Gly)
n.1848A>G
c.8048A>G (p.Glu2683Gly)
2g.73490004A>TCA347267118ALMS1c.7664A>T (p.Glu2555Val)
c.1056A>T
c.5116A>T
c.2111A>T (p.Glu704Val)
c.8045A>T (p.Glu2682Val)
c.896-29771A>T
c.2876A>T (p.Glu959Val)
c.7919A>T (p.Glu2640Val)
n.1848A>T
c.8048A>T (p.Glu2683Val)
2g.73490005A>CCA347267120ALMS1c.7665A>C (p.Glu2555Asp)
c.1057A>C
c.5117A>C
c.2112A>C (p.Glu704Asp)
c.8046A>C (p.Glu2682Asp)
c.896-29770A>C
c.2877A>C (p.Glu959Asp)
c.7920A>C (p.Glu2640Asp)
n.1849A>C
c.8049A>C (p.Glu2683Asp)
2g.73490005A>GCA427000752ALMS1c.7665A>G (p.Glu2555=)
c.1057A>G
c.5117A>G
c.2112A>G (p.Glu704=)
c.8046A>G (p.Glu2682=)
c.896-29770A>G
c.2877A>G (p.Glu959=)
c.7920A>G (p.Glu2640=)
n.1849A>G
c.8049A>G (p.Glu2683=)
 gnomAD v4
2g.73490005A>TCA347267121ALMS1c.7665A>T (p.Glu2555Asp)
c.1057A>T
c.5117A>T
c.2112A>T (p.Glu704Asp)
c.8046A>T (p.Glu2682Asp)
c.896-29770A>T
c.2877A>T (p.Glu959Asp)
c.7920A>T (p.Glu2640Asp)
n.1849A>T
c.8049A>T (p.Glu2683Asp)
2g.73490006_73490013dupCA2577005007ALMS1c.7666_7673dup (p.Glu2558AspfsTer2)
c.1058_1065dup
c.5118_5125dup
c.2113_2120dup (p.Glu707AspfsTer2)
c.8047_8054dup (p.Glu2685AspfsTer2)
c.896-29769_896-29762dup
c.2878_2885dup (p.Glu962AspfsTer2)
c.7921_7928dup (p.Glu2643AspfsTer2)
n.1850_1857dup
c.8050_8057dup (p.Glu2686AspfsTer2)
2g.73490006T>ACA50377928ALMS1c.7666T>A (p.Leu2556Ile)
c.1058T>A
c.5118T>A
c.2113T>A (p.Leu705Ile)
c.8047T>A (p.Leu2683Ile)
c.896-29769T>A
c.2878T>A (p.Leu960Ile)
c.7921T>A (p.Leu2641Ile)
n.1850T>A
c.8050T>A (p.Leu2684Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.73490006T>CCA427000753ALMS1c.7666T>C (p.Leu2556=)
c.1058T>C
c.5118T>C
c.2113T>C (p.Leu705=)
c.8047T>C (p.Leu2683=)
c.896-29769T>C
c.2878T>C (p.Leu960=)
c.7921T>C (p.Leu2641=)
n.1850T>C
c.8050T>C (p.Leu2684=)
2g.73490006T>GCA347267126ALMS1c.7666T>G (p.Leu2556Val)
c.1058T>G
c.5118T>G
c.2113T>G (p.Leu705Val)
c.8047T>G (p.Leu2683Val)
c.896-29769T>G
c.2878T>G (p.Leu960Val)
c.7921T>G (p.Leu2641Val)
n.1850T>G
c.8050T>G (p.Leu2684Val)
2g.73490006T=CA1260981272ALMS1c.7666T= (p.Leu2556=)
c.1058T=
c.5118T=
c.2113T= (p.Leu705=)
c.8047T= (p.Leu2683=)
c.896-29769T=
c.2878T= (p.Leu960=)
c.7921T= (p.Leu2641=)
n.1850T=
c.8050T= (p.Leu2684=)
2g.73490007T>ACA347267129ALMS1c.7667T>A (p.Leu2556Ter)
c.1059T>A
c.5119T>A
c.2114T>A (p.Leu705Ter)
c.8048T>A (p.Leu2683Ter)
c.896-29768T>A
c.2879T>A (p.Leu960Ter)
c.7922T>A (p.Leu2641Ter)
n.1851T>A
c.8051T>A (p.Leu2684Ter)
2g.73490007T>CCA347267130ALMS1c.7667T>C (p.Leu2556Ser)
c.1059T>C
c.5119T>C
c.2114T>C (p.Leu705Ser)
c.8048T>C (p.Leu2683Ser)
c.896-29768T>C
c.2879T>C (p.Leu960Ser)
c.7922T>C (p.Leu2641Ser)
n.1851T>C
c.8051T>C (p.Leu2684Ser)
2g.73490007T>GCA347267134ALMS1c.7667T>G (p.Leu2556Ter)
c.1059T>G
c.5119T>G
c.2114T>G (p.Leu705Ter)
c.8048T>G (p.Leu2683Ter)
c.896-29768T>G
c.2879T>G (p.Leu960Ter)
c.7922T>G (p.Leu2641Ter)
n.1851T>G
c.8051T>G (p.Leu2684Ter)
2g.73490008A=CA1260981275ALMS1c.7668A= (p.Leu2556=)
c.1060A=
c.5120A=
c.2115A= (p.Leu705=)
c.8049A= (p.Leu2683=)
c.896-29767A=
c.2880A= (p.Leu960=)
c.7923A= (p.Leu2641=)
n.1852A=
c.8052A= (p.Leu2684=)
2g.73490008A>CCA347267137ALMS1c.7668A>C (p.Leu2556Phe)
c.1060A>C
c.5120A>C
c.2115A>C (p.Leu705Phe)
c.8049A>C (p.Leu2683Phe)
c.896-29767A>C
c.2880A>C (p.Leu960Phe)
c.7923A>C (p.Leu2641Phe)
n.1852A>C
c.8052A>C (p.Leu2684Phe)
 gnomAD v4
2g.73490008A>GCA427000754ALMS1c.7668A>G (p.Leu2556=)
c.1060A>G
c.5120A>G
c.2115A>G (p.Leu705=)
c.8049A>G (p.Leu2683=)
c.896-29767A>G
c.2880A>G (p.Leu960=)
c.7923A>G (p.Leu2641=)
n.1852A>G
c.8052A>G (p.Leu2684=)
 dbSNP
2g.73490008A>TCA347267139ALMS1c.7668A>T (p.Leu2556Phe)
c.1060A>T
c.5120A>T
c.2115A>T (p.Leu705Phe)
c.8049A>T (p.Leu2683Phe)
c.896-29767A>T
c.2880A>T (p.Leu960Phe)
c.7923A>T (p.Leu2641Phe)
n.1852A>T
c.8052A>T (p.Leu2684Phe)
2g.73490009G>ACA347267146ALMS1c.7669G>A (p.Val2557Ile)
c.1061G>A
c.5121G>A
c.2116G>A (p.Val706Ile)
c.8050G>A (p.Val2684Ile)
c.896-29766G>A
c.2881G>A (p.Val961Ile)
c.7924G>A (p.Val2642Ile)
n.1853G>A
c.8053G>A (p.Val2685Ile)
 dbSNP
2g.73490009G>CCA347267142ALMS1c.7669G>C (p.Val2557Leu)
c.1061G>C
c.5121G>C
c.2116G>C (p.Val706Leu)
c.8050G>C (p.Val2684Leu)
c.896-29766G>C
c.2881G>C (p.Val961Leu)
c.7924G>C (p.Val2642Leu)
n.1853G>C
c.8053G>C (p.Val2685Leu)
2g.73490009G=CA1260981278ALMS1c.7669G= (p.Val2557=)
c.1061G=
c.5121G=
c.2116G= (p.Val706=)
c.8050G= (p.Val2684=)
c.896-29766G=
c.2881G= (p.Val961=)
c.7924G= (p.Val2642=)
n.1853G=
c.8053G= (p.Val2685=)
2g.73490009G>TCA347267143ALMS1c.7669G>T (p.Val2557Leu)
c.1061G>T
c.5121G>T
c.2116G>T (p.Val706Leu)
c.8050G>T (p.Val2684Leu)
c.896-29766G>T
c.2881G>T (p.Val961Leu)
c.7924G>T (p.Val2642Leu)
n.1853G>T
c.8053G>T (p.Val2685Leu)
2g.73490010T>ACA347267148ALMS1c.7670T>A (p.Val2557Glu)
c.1062T>A
c.5122T>A
c.2117T>A (p.Val706Glu)
c.8051T>A (p.Val2684Glu)
c.896-29765T>A
c.2882T>A (p.Val961Glu)
c.7925T>A (p.Val2642Glu)
n.1854T>A
c.8054T>A (p.Val2685Glu)
2g.73490010T>CCA347267150ALMS1c.7670T>C (p.Val2557Ala)
c.1062T>C
c.5122T>C
c.2117T>C (p.Val706Ala)
c.8051T>C (p.Val2684Ala)
c.896-29765T>C
c.2882T>C (p.Val961Ala)
c.7925T>C (p.Val2642Ala)
n.1854T>C
c.8054T>C (p.Val2685Ala)
2g.73490010T>GCA347267154ALMS1c.7670T>G (p.Val2557Gly)
c.1062T>G
c.5122T>G
c.2117T>G (p.Val706Gly)
c.8051T>G (p.Val2684Gly)
c.896-29765T>G
c.2882T>G (p.Val961Gly)
c.7925T>G (p.Val2642Gly)
n.1854T>G
c.8054T>G (p.Val2685Gly)
2g.73490011A>CCA427000755ALMS1c.7671A>C (p.Val2557=)
c.1063A>C
c.5123A>C
c.2118A>C (p.Val706=)
c.8052A>C (p.Val2684=)
c.896-29764A>C
c.2883A>C (p.Val961=)
c.7926A>C (p.Val2642=)
n.1855A>C
c.8055A>C (p.Val2685=)
2g.73490011A>GCA427000756ALMS1c.7671A>G (p.Val2557=)
c.1063A>G
c.5123A>G
c.2118A>G (p.Val706=)
c.8052A>G (p.Val2684=)
c.896-29764A>G
c.2883A>G (p.Val961=)
c.7926A>G (p.Val2642=)
n.1855A>G
c.8055A>G (p.Val2685=)
 ClinVar dbSNP gnomAD v4
2g.73490011A>TCA427000757ALMS1c.7671A>T (p.Val2557=)
c.1063A>T
c.5123A>T
c.2118A>T (p.Val706=)
c.8052A>T (p.Val2684=)
c.896-29764A>T
c.2883A>T (p.Val961=)
c.7926A>T (p.Val2642=)
n.1855A>T
c.8055A>T (p.Val2685=)
2g.73490012G>ACA347267157ALMS1c.7672G>A (p.Glu2558Lys)
c.1064G>A
c.5124G>A
c.2119G>A (p.Glu707Lys)
c.8053G>A (p.Glu2685Lys)
c.896-29763G>A
c.2884G>A (p.Glu962Lys)
c.7927G>A (p.Glu2643Lys)
n.1856G>A
c.8056G>A (p.Glu2686Lys)
 gnomAD v4
2g.73490012G>CCA347267159ALMS1c.7672G>C (p.Glu2558Gln)
c.1064G>C
c.5124G>C
c.2119G>C (p.Glu707Gln)
c.8053G>C (p.Glu2685Gln)
c.896-29763G>C
c.2884G>C (p.Glu962Gln)
c.7927G>C (p.Glu2643Gln)
n.1856G>C
c.8056G>C (p.Glu2686Gln)
2g.73490012G>TCA347267162ALMS1c.7672G>T (p.Glu2558Ter)
c.1064G>T
c.5124G>T
c.2119G>T (p.Glu707Ter)
c.8053G>T (p.Glu2685Ter)
c.896-29763G>T
c.2884G>T (p.Glu962Ter)
c.7927G>T (p.Glu2643Ter)
n.1856G>T
c.8056G>T (p.Glu2686Ter)
2g.73490013A>CCA347267165ALMS1c.7673A>C (p.Glu2558Ala)
c.1065A>C
c.5125A>C
c.2120A>C (p.Glu707Ala)
c.8054A>C (p.Glu2685Ala)
c.896-29762A>C
c.2885A>C (p.Glu962Ala)
c.7928A>C (p.Glu2643Ala)
n.1857A>C
c.8057A>C (p.Glu2686Ala)
2g.73490013A>GCA347267169ALMS1c.7673A>G (p.Glu2558Gly)
c.1065A>G
c.5125A>G
c.2120A>G (p.Glu707Gly)
c.8054A>G (p.Glu2685Gly)
c.896-29762A>G
c.2885A>G (p.Glu962Gly)
c.7928A>G (p.Glu2643Gly)
n.1857A>G
c.8057A>G (p.Glu2686Gly)
2g.73490013A>TCA347267171ALMS1c.7673A>T (p.Glu2558Val)
c.1065A>T
c.5125A>T
c.2120A>T (p.Glu707Val)
c.8054A>T (p.Glu2685Val)
c.896-29762A>T
c.2885A>T (p.Glu962Val)
c.7928A>T (p.Glu2643Val)
n.1857A>T
c.8057A>T (p.Glu2686Val)
2g.73490014A>CCA347267174ALMS1c.7674A>C (p.Glu2558Asp)
c.1066A>C
c.5126A>C
c.2121A>C (p.Glu707Asp)
c.8055A>C (p.Glu2685Asp)
c.896-29761A>C
c.2886A>C (p.Glu962Asp)
c.7929A>C (p.Glu2643Asp)
n.1858A>C
c.8058A>C (p.Glu2686Asp)
2g.73490014A>GCA427000758ALMS1c.7674A>G (p.Glu2558=)
c.1066A>G
c.5126A>G
c.2121A>G (p.Glu707=)
c.8055A>G (p.Glu2685=)
c.896-29761A>G
c.2886A>G (p.Glu962=)
c.7929A>G (p.Glu2643=)
n.1858A>G
c.8058A>G (p.Glu2686=)
2g.73490014A>TCA347267176ALMS1c.7674A>T (p.Glu2558Asp)
c.1066A>T
c.5126A>T
c.2121A>T (p.Glu707Asp)
c.8055A>T (p.Glu2685Asp)
c.896-29761A>T
c.2886A>T (p.Glu962Asp)
c.7929A>T (p.Glu2643Asp)
n.1858A>T
c.8058A>T (p.Glu2686Asp)
 gnomAD v4
2g.73490015C>ACA347267178ALMS1c.7675C>A (p.Pro2559Thr)
c.1067C>A
c.5127C>A
c.2122C>A (p.Pro708Thr)
c.8056C>A (p.Pro2686Thr)
c.896-29760C>A
c.2887C>A (p.Pro963Thr)
c.7930C>A (p.Pro2644Thr)
n.1859C>A
c.8059C>A (p.Pro2687Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.73490015C=CA1260981281ALMS1c.7675C= (p.Pro2559=)
c.1067C=
c.5127C=
c.2122C= (p.Pro708=)
c.8056C= (p.Pro2686=)
c.896-29760C=
c.2887C= (p.Pro963=)
c.7930C= (p.Pro2644=)
n.1859C=
c.8059C= (p.Pro2687=)
2g.73490015C>GCA347267183ALMS1c.7675C>G (p.Pro2559Ala)
c.1067C>G
c.5127C>G
c.2122C>G (p.Pro708Ala)
c.8056C>G (p.Pro2686Ala)
c.896-29760C>G
c.2887C>G (p.Pro963Ala)
c.7930C>G (p.Pro2644Ala)
n.1859C>G
c.8059C>G (p.Pro2687Ala)
 dbSNP
2g.73490015C>TCA347267181ALMS1c.7675C>T (p.Pro2559Ser)
c.1067C>T
c.5127C>T
c.2122C>T (p.Pro708Ser)
c.8056C>T (p.Pro2686Ser)
c.896-29760C>T
c.2887C>T (p.Pro963Ser)
c.7930C>T (p.Pro2644Ser)
n.1859C>T
c.8059C>T (p.Pro2687Ser)
 gnomAD v4
2g.73490016C>ACA347267186ALMS1c.7676C>A (p.Pro2559His)
c.1068C>A
c.5128C>A
c.2123C>A (p.Pro708His)
c.8057C>A (p.Pro2686His)
c.896-29759C>A
c.2888C>A (p.Pro963His)
c.7931C>A (p.Pro2644His)
n.1860C>A
c.8060C>A (p.Pro2687His)
2g.73490016C=CA1260981284ALMS1c.7676C= (p.Pro2559=)
c.1068C=
c.5128C=
c.2123C= (p.Pro708=)
c.8057C= (p.Pro2686=)
c.896-29759C=
c.2888C= (p.Pro963=)
c.7931C= (p.Pro2644=)
n.1860C=
c.8060C= (p.Pro2687=)
2g.73490016C>GCA347267191ALMS1c.7676C>G (p.Pro2559Arg)
c.1068C>G
c.5128C>G
c.2123C>G (p.Pro708Arg)
c.8057C>G (p.Pro2686Arg)
c.896-29759C>G
c.2888C>G (p.Pro963Arg)
c.7931C>G (p.Pro2644Arg)
n.1860C>G
c.8060C>G (p.Pro2687Arg)
2g.73490016C>TCA347267187ALMS1c.7676C>T (p.Pro2559Leu)
c.1068C>T
c.5128C>T
c.2123C>T (p.Pro708Leu)
c.8057C>T (p.Pro2686Leu)
c.896-29759C>T
c.2888C>T (p.Pro963Leu)
c.7931C>T (p.Pro2644Leu)
n.1860C>T
c.8060C>T (p.Pro2687Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73490017T>ACA427000759ALMS1c.7677T>A (p.Pro2559=)
c.1069T>A
c.5129T>A
c.2124T>A (p.Pro708=)
c.8058T>A (p.Pro2686=)
c.896-29758T>A
c.2889T>A (p.Pro963=)
c.7932T>A (p.Pro2644=)
n.1861T>A
c.8061T>A (p.Pro2687=)
2g.73490017T>CCA427000760ALMS1c.7677T>C (p.Pro2559=)
c.1069T>C
c.5129T>C
c.2124T>C (p.Pro708=)
c.8058T>C (p.Pro2686=)
c.896-29758T>C
c.2889T>C (p.Pro963=)
c.7932T>C (p.Pro2644=)
n.1861T>C
c.8061T>C (p.Pro2687=)
2g.73490017T>GCA427000761ALMS1c.7677T>G (p.Pro2559=)
c.1069T>G
c.5129T>G
c.2124T>G (p.Pro708=)
c.8058T>G (p.Pro2686=)
c.896-29758T>G
c.2889T>G (p.Pro963=)
c.7932T>G (p.Pro2644=)
n.1861T>G
c.8061T>G (p.Pro2687=)
2g.73490018G>ACA50377934ALMS1c.7678G>A (p.Ala2560Thr)
c.1070G>A
c.5130G>A
c.2125G>A (p.Ala709Thr)
c.8059G>A (p.Ala2687Thr)
c.896-29757G>A
c.2890G>A (p.Ala964Thr)
c.7933G>A (p.Ala2645Thr)
n.1862G>A
c.8062G>A (p.Ala2688Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.73490018G>CCA347267195ALMS1c.7678G>C (p.Ala2560Pro)
c.1070G>C
c.5130G>C
c.2125G>C (p.Ala709Pro)
c.8059G>C (p.Ala2687Pro)
c.896-29757G>C
c.2890G>C (p.Ala964Pro)
c.7933G>C (p.Ala2645Pro)
n.1862G>C
c.8062G>C (p.Ala2688Pro)
2g.73490018G=CA1260981287ALMS1c.7678G= (p.Ala2560=)
c.1070G=
c.5130G=
c.2125G= (p.Ala709=)
c.8059G= (p.Ala2687=)
c.896-29757G=
c.2890G= (p.Ala964=)
c.7933G= (p.Ala2645=)
n.1862G=
c.8062G= (p.Ala2688=)
2g.73490018G>TCA347267197ALMS1c.7678G>T (p.Ala2560Ser)
c.1070G>T
c.5130G>T
c.2125G>T (p.Ala709Ser)
c.8059G>T (p.Ala2687Ser)
c.896-29757G>T
c.2890G>T (p.Ala964Ser)
c.7933G>T (p.Ala2645Ser)
n.1862G>T
c.8062G>T (p.Ala2688Ser)
 gnomAD v4
2g.73490019C>ACA347267201ALMS1c.7679C>A (p.Ala2560Asp)
c.1071C>A
c.5131C>A
c.2126C>A (p.Ala709Asp)
c.8060C>A (p.Ala2687Asp)
c.896-29756C>A
c.2891C>A (p.Ala964Asp)
c.7934C>A (p.Ala2645Asp)
n.1863C>A
c.8063C>A (p.Ala2688Asp)
2g.73490019C>GCA347267207ALMS1c.7679C>G (p.Ala2560Gly)
c.1071C>G
c.5131C>G
c.2126C>G (p.Ala709Gly)
c.8060C>G (p.Ala2687Gly)
c.896-29756C>G
c.2891C>G (p.Ala964Gly)
c.7934C>G (p.Ala2645Gly)
n.1863C>G
c.8063C>G (p.Ala2688Gly)
2g.73490019C>TCA347267209ALMS1c.7679C>T (p.Ala2560Val)
c.1071C>T
c.5131C>T
c.2126C>T (p.Ala709Val)
c.8060C>T (p.Ala2687Val)
c.896-29756C>T
c.2891C>T (p.Ala964Val)
c.7934C>T (p.Ala2645Val)
n.1863C>T
c.8063C>T (p.Ala2688Val)
 gnomAD v4
2g.73490020T>ACA427000762ALMS1c.7680T>A (p.Ala2560=)
c.1072T>A
c.5132T>A
c.2127T>A (p.Ala709=)
c.8061T>A (p.Ala2687=)
c.896-29755T>A
c.2892T>A (p.Ala964=)
c.7935T>A (p.Ala2645=)
n.1864T>A
c.8064T>A (p.Ala2688=)
 ClinVar
2g.73490020T>CCA427000763ALMS1c.7680T>C (p.Ala2560=)
c.1072T>C
c.5132T>C
c.2127T>C (p.Ala709=)
c.8061T>C (p.Ala2687=)
c.896-29755T>C
c.2892T>C (p.Ala964=)
c.7935T>C (p.Ala2645=)
n.1864T>C
c.8064T>C (p.Ala2688=)
2g.73490020T>GCA427000764ALMS1c.7680T>G (p.Ala2560=)
c.1072T>G
c.5132T>G
c.2127T>G (p.Ala709=)
c.8061T>G (p.Ala2687=)
c.896-29755T>G
c.2892T>G (p.Ala964=)
c.7935T>G (p.Ala2645=)
n.1864T>G
c.8064T>G (p.Ala2688=)

Number of alleles fetched