Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.51139275_51139277delCA2633181094SALL1c.2949_2951del (p.Glu983del)
c.2658_2660del (p.Glu886del)
c.77-1721_77-1719del (n.77-1721_77-1719del)
gnomAD v4
16g.51139273T>ACA395882998SALL1c.2949A>T (p.Glu983Asp)
c.2658A>T (p.Glu886Asp)
c.77-1721A>T (n.77-1721A>T)
COSMIC
16g.51139273T>CCA495780164SALL1c.2949A>G (p.Glu983=)
c.2658A>G (p.Glu886=)
c.77-1721A>G (n.77-1721A>G)
dbSNP gnomAD v4
16g.51139273T>GCA395883001SALL1c.2949A>C (p.Glu983Asp)
c.2658A>C (p.Glu886Asp)
c.77-1721A>C (n.77-1721A>C)
16g.51139273T=CA2222017672SALL1c.2949A= (p.Glu983=)
c.2658A= (p.Glu886=)
c.77-1721A= (n.77-1721A=)
16g.51139274T>ACA395883007SALL1c.2948A>T (p.Glu983Val)
c.2657A>T (p.Glu886Val)
c.77-1722A>T (n.77-1722A>T)
16g.51139274T>CCA395883010SALL1c.2948A>G (p.Glu983Gly)
c.2657A>G (p.Glu886Gly)
c.77-1722A>G (n.77-1722A>G)
16g.51139274T>GCA395883017SALL1c.2948A>C (p.Glu983Ala)
c.2657A>C (p.Glu886Ala)
c.77-1722A>C (n.77-1722A>C)
16g.51139275C>ACA395883019SALL1c.2947G>T (p.Glu983Ter)
c.2656G>T (p.Glu886Ter)
c.77-1723G>T (n.77-1723G>T)
16g.51139275C=CA2222017677SALL1c.2947G= (p.Glu983=)
c.2656G= (p.Glu886=)
c.77-1723G= (n.77-1723G=)
16g.51139275C>GCA8053008SALL1c.2947G>C (p.Glu983Gln)
c.2656G>C (p.Glu886Gln)
c.77-1723G>C (n.77-1723G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.51139275C>TCA395883021SALL1c.2947G>A (p.Glu983Lys)
c.2656G>A (p.Glu886Lys)
c.77-1723G>A (n.77-1723G>A)
16g.51139276T>ACA395883023SALL1c.2946A>T (p.Lys982Asn)
c.2655A>T (p.Lys885Asn)
c.77-1724A>T (n.77-1724A>T)
16g.51139276T>CCA495780168SALL1c.2946A>G (p.Lys982=)
c.2655A>G (p.Lys885=)
c.77-1724A>G (n.77-1724A>G)
gnomAD v4
16g.51139276T>GCA395883026SALL1c.2946A>C (p.Lys982Asn)
c.2655A>C (p.Lys885Asn)
c.77-1724A>C (n.77-1724A>C)
16g.51139277T>ACA395883029SALL1c.2945A>T (p.Lys982Ile)
c.2654A>T (p.Lys885Ile)
c.77-1725A>T (n.77-1725A>T)
16g.51139277T>CCA8053009SALL1c.2945A>G (p.Lys982Arg)
c.2654A>G (p.Lys885Arg)
c.77-1725A>G (n.77-1725A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139277T>GCA395883032SALL1c.2945A>C (p.Lys982Thr)
c.2654A>C (p.Lys885Thr)
c.77-1725A>C (n.77-1725A>C)
16g.51139277T=CA2222017679SALL1c.2945A= (p.Lys982=)
c.2654A= (p.Lys885=)
c.77-1725A= (n.77-1725A=)
16g.51139278T>ACA395883039SALL1c.2944A>T (p.Lys982Ter)
c.2653A>T (p.Lys885Ter)
c.77-1726A>T (n.77-1726A>T)
16g.51139278T>CCA395883045SALL1c.2944A>G (p.Lys982Glu)
c.2653A>G (p.Lys885Glu)
c.77-1726A>G (n.77-1726A>G)
16g.51139278T>GCA395883042SALL1c.2944A>C (p.Lys982Gln)
c.2653A>C (p.Lys885Gln)
c.77-1726A>C (n.77-1726A>C)
16g.51139278_51139307dupCA622654492SALL1c.2915_2944dup (p.Ile981_Lys982insMetThrSerSerHisAlaGluLysIleIle)
c.2624_2653dup (p.Ile884_Lys885insMetThrSerSerHisAlaGluLysIleIle)
c.77-1755_77-1726dup (n.77-1755_77-1726dup)
dbSNP gnomAD v2 gnomAD v4
16g.51139279G>ACA495780175SALL1c.2943C>T (p.Ile981=)
c.2652C>T (p.Ile884=)
c.77-1727C>T (n.77-1727C>T)
16g.51139279G>CCA395883049SALL1c.2943C>G (p.Ile981Met)
c.2652C>G (p.Ile884Met)
c.77-1727C>G (n.77-1727C>G)
16g.51139279G>TCA495780177SALL1c.2943C>A (p.Ile981=)
c.2652C>A (p.Ile884=)
c.77-1727C>A (n.77-1727C>A)
16g.51139280A=CA2222017688SALL1c.2942T= (p.Ile981=)
c.2651T= (p.Ile884=)
c.77-1728T= (n.77-1728T=)
16g.51139280A>CCA395883053SALL1c.2942T>G (p.Ile981Ser)
c.2651T>G (p.Ile884Ser)
c.77-1728T>G (n.77-1728T>G)
16g.51139280A>GCA395883056SALL1c.2942T>C (p.Ile981Thr)
c.2651T>C (p.Ile884Thr)
c.77-1728T>C (n.77-1728T>C)
16g.51139280A>TCA8053010SALL1c.2942T>A (p.Ile981Asn)
c.2651T>A (p.Ile884Asn)
c.77-1728T>A (n.77-1728T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139281T>ACA395883062SALL1c.2941A>T (p.Ile981Phe)
c.2650A>T (p.Ile884Phe)
c.77-1729A>T (n.77-1729A>T)
16g.51139281T>CCA8053011SALL1c.2941A>G (p.Ile981Val)
c.2650A>G (p.Ile884Val)
c.77-1729A>G (n.77-1729A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139281T>GCA395883074SALL1c.2941A>C (p.Ile981Leu)
c.2650A>C (p.Ile884Leu)
c.77-1729A>C (n.77-1729A>C)
dbSNP
16g.51139281T=CA2222017696SALL1c.2941A= (p.Ile981=)
c.2650A= (p.Ile884=)
c.77-1729A= (n.77-1729A=)
16g.51139282G>ACA495780179SALL1c.2940C>T (p.Ile980=)
c.2649C>T (p.Ile883=)
c.77-1730C>T (n.77-1730C>T)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.51139282G>CCA395883077SALL1c.2940C>G (p.Ile980Met)
c.2649C>G (p.Ile883Met)
c.77-1730C>G (n.77-1730C>G)
gnomAD v4
16g.51139282G=CA2222017701SALL1c.2940C= (p.Ile980=)
c.2649C= (p.Ile883=)
c.77-1730C= (n.77-1730C=)
16g.51139282G>TCA495780180SALL1c.2940C>A (p.Ile980=)
c.2649C>A (p.Ile883=)
c.77-1730C>A (n.77-1730C>A)
16g.51139283A>CCA395883081SALL1c.2939T>G (p.Ile980Ser)
c.2648T>G (p.Ile883Ser)
c.77-1731T>G (n.77-1731T>G)
16g.51139283A>GCA395883085SALL1c.2939T>C (p.Ile980Thr)
c.2648T>C (p.Ile883Thr)
c.77-1731T>C (n.77-1731T>C)
16g.51139283A>TCA395883088SALL1c.2939T>A (p.Ile980Asn)
c.2648T>A (p.Ile883Asn)
c.77-1731T>A (n.77-1731T>A)
16g.51139284T>ACA8053012SALL1c.2938A>T (p.Ile980Phe)
c.2647A>T (p.Ile883Phe)
c.77-1732A>T (n.77-1732A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139284T>CCA395883092SALL1c.2938A>G (p.Ile980Val)
c.2647A>G (p.Ile883Val)
c.77-1732A>G (n.77-1732A>G)
16g.51139284T>GCA395883095SALL1c.2938A>C (p.Ile980Leu)
c.2647A>C (p.Ile883Leu)
c.77-1732A>C (n.77-1732A>C)
16g.51139284T=CA2222017705SALL1c.2938A= (p.Ile980=)
c.2647A= (p.Ile883=)
c.77-1732A= (n.77-1732A=)
16g.51139285T>ACA395883101SALL1c.2937A>T (p.Lys979Asn)
c.2646A>T (p.Lys882Asn)
c.77-1733A>T (n.77-1733A>T)
16g.51139285T>CCA495780184SALL1c.2937A>G (p.Lys979=)
c.2646A>G (p.Lys882=)
c.77-1733A>G (n.77-1733A>G)
dbSNP gnomAD v3 gnomAD v4
16g.51139285T>GCA395883103SALL1c.2937A>C (p.Lys979Asn)
c.2646A>C (p.Lys882Asn)
c.77-1733A>C (n.77-1733A>C)
16g.51139285T=CA2222017708SALL1c.2937A= (p.Lys979=)
c.2646A= (p.Lys882=)
c.77-1733A= (n.77-1733A=)
16g.51139286T>ACA395883108SALL1c.2936A>T (p.Lys979Ile)
c.2645A>T (p.Lys882Ile)
c.77-1734A>T (n.77-1734A>T)
16g.51139286T>CCA395883111SALL1c.2936A>G (p.Lys979Arg)
c.2645A>G (p.Lys882Arg)
c.77-1734A>G (n.77-1734A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139286T>GCA395883113SALL1c.2936A>C (p.Lys979Thr)
c.2645A>C (p.Lys882Thr)
c.77-1734A>C (n.77-1734A>C)
16g.51139286T=CA2222017711SALL1c.2936A= (p.Lys979=)
c.2645A= (p.Lys882=)
c.77-1734A= (n.77-1734A=)
16g.51139287T>ACA395883116SALL1c.2935A>T (p.Lys979Ter)
c.2644A>T (p.Lys882Ter)
c.77-1735A>T (n.77-1735A>T)
16g.51139287T>CCA395883120SALL1c.2935A>G (p.Lys979Glu)
c.2644A>G (p.Lys882Glu)
c.77-1735A>G (n.77-1735A>G)
dbSNP gnomAD v2 gnomAD v4
16g.51139287T>GCA395883125SALL1c.2935A>C (p.Lys979Gln)
c.2644A>C (p.Lys882Gln)
c.77-1735A>C (n.77-1735A>C)
16g.51139287T=CA2222017714SALL1c.2935A= (p.Lys979=)
c.2644A= (p.Lys882=)
c.77-1735A= (n.77-1735A=)
16g.51139288C>ACA395883127SALL1c.2934G>T (p.Glu978Asp)
c.2643G>T (p.Glu881Asp)
c.77-1736G>T (n.77-1736G>T)
16g.51139288C>GCA395883129SALL1c.2934G>C (p.Glu978Asp)
c.2643G>C (p.Glu881Asp)
c.77-1736G>C (n.77-1736G>C)
gnomAD v4
16g.51139288C>TCA495780191SALL1c.2934G>A (p.Glu978=)
c.2643G>A (p.Glu881=)
c.77-1736G>A (n.77-1736G>A)
16g.51139289T>ACA395883134SALL1c.2933A>T (p.Glu978Val)
c.2642A>T (p.Glu881Val)
c.77-1737A>T (n.77-1737A>T)
16g.51139289T>CCA395883137SALL1c.2933A>G (p.Glu978Gly)
c.2642A>G (p.Glu881Gly)
c.77-1737A>G (n.77-1737A>G)
16g.51139289T>GCA395883132SALL1c.2933A>C (p.Glu978Ala)
c.2642A>C (p.Glu881Ala)
c.77-1737A>C (n.77-1737A>C)
16g.51139290C>ACA395883140SALL1c.2932G>T (p.Glu978Ter)
c.2641G>T (p.Glu881Ter)
c.77-1738G>T (n.77-1738G>T)
16g.51139290C>GCA395883143SALL1c.2932G>C (p.Glu978Gln)
c.2641G>C (p.Glu881Gln)
c.77-1738G>C (n.77-1738G>C)
16g.51139290C>TCA395883147SALL1c.2932G>A (p.Glu978Lys)
c.2641G>A (p.Glu881Lys)
c.77-1738G>A (n.77-1738G>A)
16g.51139291T>ACA495780195SALL1c.2931A>T (p.Ala977=)
c.2640A>T (p.Ala880=)
c.77-1739A>T (n.77-1739A>T)
16g.51139291T>CCA495780196SALL1c.2931A>G (p.Ala977=)
c.2640A>G (p.Ala880=)
c.77-1739A>G (n.77-1739A>G)
16g.51139291T>GCA495780197SALL1c.2931A>C (p.Ala977=)
c.2640A>C (p.Ala880=)
c.77-1739A>C (n.77-1739A>C)
16g.51139292G>ACA395883150SALL1c.2930C>T (p.Ala977Val)
c.2639C>T (p.Ala880Val)
c.77-1740C>T (n.77-1740C>T)
16g.51139292G>CCA395883152SALL1c.2930C>G (p.Ala977Gly)
c.2639C>G (p.Ala880Gly)
c.77-1740C>G (n.77-1740C>G)
16g.51139292G>TCA395883155SALL1c.2930C>A (p.Ala977Glu)
c.2639C>A (p.Ala880Glu)
c.77-1740C>A (n.77-1740C>A)
16g.51139293C>ACA395883160SALL1c.2929G>T (p.Ala977Ser)
c.2638G>T (p.Ala880Ser)
c.77-1741G>T (n.77-1741G>T)
dbSNP gnomAD v2 gnomAD v4
16g.51139293C=CA2222017717SALL1c.2929G= (p.Ala977=)
c.2638G= (p.Ala880=)
c.77-1741G= (n.77-1741G=)
16g.51139293C>GCA395883163SALL1c.2929G>C (p.Ala977Pro)
c.2638G>C (p.Ala880Pro)
c.77-1741G>C (n.77-1741G>C)
16g.51139293C>TCA8053013SALL1c.2929G>A (p.Ala977Thr)
c.2638G>A (p.Ala880Thr)
c.77-1741G>A (n.77-1741G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139294G>ACA8053014SALL1c.2928C>T (p.His976=)
c.2637C>T (p.His879=)
c.77-1742C>T (n.77-1742C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.51139294G>CCA395883169SALL1c.2928C>G (p.His976Gln)
c.2637C>G (p.His879Gln)
c.77-1742C>G (n.77-1742C>G)
gnomAD v4
16g.51139294G=CA2222017722SALL1c.2928C= (p.His976=)
c.2637C= (p.His879=)
c.77-1742C= (n.77-1742C=)
16g.51139294G>TCA395883176SALL1c.2928C>A (p.His976Gln)
c.2637C>A (p.His879Gln)
c.77-1742C>A (n.77-1742C>A)
16g.51139295T>ACA395883181SALL1c.2927A>T (p.His976Leu)
c.2636A>T (p.His879Leu)
c.77-1743A>T (n.77-1743A>T)
16g.51139295T>CCA395883185SALL1c.2927A>G (p.His976Arg)
c.2636A>G (p.His879Arg)
c.77-1743A>G (n.77-1743A>G)
16g.51139295T>GCA395883178SALL1c.2927A>C (p.His976Pro)
c.2636A>C (p.His879Pro)
c.77-1743A>C (n.77-1743A>C)
gnomAD v4 COSMIC
16g.51139296G>ACA395883189SALL1c.2926C>T (p.His976Tyr)
c.2635C>T (p.His879Tyr)
c.77-1744C>T (n.77-1744C>T)
16g.51139296G>CCA395883190SALL1c.2926C>G (p.His976Asp)
c.2635C>G (p.His879Asp)
c.77-1744C>G (n.77-1744C>G)
16g.51139296G>TCA395883195SALL1c.2926C>A (p.His976Asn)
c.2635C>A (p.His879Asn)
c.77-1744C>A (n.77-1744C>A)
16g.51139297A>CCA395883197SALL1c.2925T>G (p.Ser975Arg)
c.2634T>G (p.Ser878Arg)
c.77-1745T>G (n.77-1745T>G)
16g.51139297A>GCA495780204SALL1c.2925T>C (p.Ser975=)
c.2634T>C (p.Ser878=)
c.77-1745T>C (n.77-1745T>C)
16g.51139297A>TCA395883199SALL1c.2925T>A (p.Ser975Arg)
c.2634T>A (p.Ser878Arg)
c.77-1745T>A (n.77-1745T>A)
16g.51139298C>ACA395883211SALL1c.2924G>T (p.Ser975Ile)
c.2633G>T (p.Ser878Ile)
c.77-1746G>T (n.77-1746G>T)
16g.51139298C=CA2222017725SALL1c.2924G= (p.Ser975=)
c.2633G= (p.Ser878=)
c.77-1746G= (n.77-1746G=)
16g.51139298C>GCA395883206SALL1c.2924G>C (p.Ser975Thr)
c.2633G>C (p.Ser878Thr)
c.77-1746G>C (n.77-1746G>C)
16g.51139298C>TCA8053015SALL1c.2924G>A (p.Ser975Asn)
c.2633G>A (p.Ser878Asn)
c.77-1746G>A (n.77-1746G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139299T>ACA395883217SALL1c.2923A>T (p.Ser975Cys)
c.2632A>T (p.Ser878Cys)
c.77-1747A>T (n.77-1747A>T)
16g.51139299T>CCA395883220SALL1c.2923A>G (p.Ser975Gly)
c.2632A>G (p.Ser878Gly)
c.77-1747A>G (n.77-1747A>G)
ClinVar gnomAD v4
16g.51139299T>GCA395883223SALL1c.2923A>C (p.Ser975Arg)
c.2632A>C (p.Ser878Arg)
c.77-1747A>C (n.77-1747A>C)
gnomAD v4
16g.51139300A=CA2222017728SALL1c.2922T= (p.Ser974=)
c.2631T= (p.Ser877=)
c.77-1748T= (n.77-1748T=)
16g.51139300A>CCA495780210SALL1c.2922T>G (p.Ser974=)
c.2631T>G (p.Ser877=)
c.77-1748T>G (n.77-1748T>G)
gnomAD v4
16g.51139300A>GCA495780211SALL1c.2922T>C (p.Ser974=)
c.2631T>C (p.Ser877=)
c.77-1748T>C (n.77-1748T>C)
dbSNP gnomAD v3 gnomAD v4
16g.51139300A>TCA495780212SALL1c.2922T>A (p.Ser974=)
c.2631T>A (p.Ser877=)
c.77-1748T>A (n.77-1748T>A)
16g.51139301G>ACA8053016SALL1c.2921C>T (p.Ser974Phe)
c.2630C>T (p.Ser877Phe)
c.77-1749C>T (n.77-1749C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139301G>CCA395883225SALL1c.2921C>G (p.Ser974Cys)
c.2630C>G (p.Ser877Cys)
c.77-1749C>G (n.77-1749C>G)
gnomAD v4
16g.51139301G=CA2222017732SALL1c.2921C= (p.Ser974=)
c.2630C= (p.Ser877=)
c.77-1749C= (n.77-1749C=)
16g.51139301G>TCA395883233SALL1c.2921C>A (p.Ser974Tyr)
c.2630C>A (p.Ser877Tyr)
c.77-1749C>A (n.77-1749C>A)
16g.51139302A=CA2222017736SALL1c.2920T= (p.Ser974=)
c.2629T= (p.Ser877=)
c.77-1750T= (n.77-1750T=)
16g.51139302A>CCA395883239SALL1c.2920T>G (p.Ser974Ala)
c.2629T>G (p.Ser877Ala)
c.77-1750T>G (n.77-1750T>G)
dbSNP
16g.51139302A>GCA8053017SALL1c.2920T>C (p.Ser974Pro)
c.2629T>C (p.Ser877Pro)
c.77-1750T>C (n.77-1750T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139302A>TCA395883236SALL1c.2920T>A (p.Ser974Thr)
c.2629T>A (p.Ser877Thr)
c.77-1750T>A (n.77-1750T>A)
16g.51139303T>ACA495780216SALL1c.2919A>T (p.Thr973=)
c.2628A>T (p.Thr876=)
c.77-1751A>T (n.77-1751A>T)
gnomAD v4
16g.51139303T>CCA495780218SALL1c.2919A>G (p.Thr973=)
c.2628A>G (p.Thr876=)
c.77-1751A>G (n.77-1751A>G)
16g.51139303T>GCA495780219SALL1c.2919A>C (p.Thr973=)
c.2628A>C (p.Thr876=)
c.77-1751A>C (n.77-1751A>C)
16g.51139304G>ACA395883252SALL1c.2918C>T (p.Thr973Ile)
c.2627C>T (p.Thr876Ile)
c.77-1752C>T (n.77-1752C>T)
16g.51139304G>CCA395883247SALL1c.2918C>G (p.Thr973Arg)
c.2627C>G (p.Thr876Arg)
c.77-1752C>G (n.77-1752C>G)
16g.51139304G>TCA395883250SALL1c.2918C>A (p.Thr973Lys)
c.2627C>A (p.Thr876Lys)
c.77-1752C>A (n.77-1752C>A)
gnomAD v4
16g.51139305T>ACA395883255SALL1c.2917A>T (p.Thr973Ser)
c.2626A>T (p.Thr876Ser)
c.77-1753A>T (n.77-1753A>T)
16g.51139305T>CCA395883257SALL1c.2917A>G (p.Thr973Ala)
c.2626A>G (p.Thr876Ala)
c.77-1753A>G (n.77-1753A>G)
16g.51139305T>GCA395883260SALL1c.2917A>C (p.Thr973Pro)
c.2626A>C (p.Thr876Pro)
c.77-1753A>C (n.77-1753A>C)
16g.51139306C>ACA395883264SALL1c.2916G>T (p.Leu972Phe)
c.2625G>T (p.Leu875Phe)
c.77-1754G>T (n.77-1754G>T)
gnomAD v4
16g.51139306C>GCA395883270SALL1c.2916G>C (p.Leu972Phe)
c.2625G>C (p.Leu875Phe)
c.77-1754G>C (n.77-1754G>C)
16g.51139306C>TCA495780223SALL1c.2916G>A (p.Leu972=)
c.2625G>A (p.Leu875=)
c.77-1754G>A (n.77-1754G>A)
16g.51139307A>CCA395883272SALL1c.2915T>G (p.Leu972Trp)
c.2624T>G (p.Leu875Trp)
c.77-1755T>G (n.77-1755T>G)
16g.51139307A>GCA395883274SALL1c.2915T>C (p.Leu972Ser)
c.2624T>C (p.Leu875Ser)
c.77-1755T>C (n.77-1755T>C)
16g.51139307A>TCA395883273SALL1c.2915T>A (p.Leu972Ter)
c.2624T>A (p.Leu875Ter)
c.77-1755T>A (n.77-1755T>A)
16g.51139308A=CA2222017742SALL1c.2914T= (p.Leu972=)
c.2623T= (p.Leu875=)
c.77-1756T= (n.77-1756T=)
16g.51139308A>CCA395883275SALL1c.2914T>G (p.Leu972Val)
c.2623T>G (p.Leu875Val)
c.77-1756T>G (n.77-1756T>G)
dbSNP
16g.51139308A>GCA495780224SALL1c.2914T>C (p.Leu972=)
c.2623T>C (p.Leu875=)
c.77-1756T>C (n.77-1756T>C)
dbSNP gnomAD v4
16g.51139308A>TCA395883276SALL1c.2914T>A (p.Leu972Met)
c.2623T>A (p.Leu875Met)
c.77-1756T>A (n.77-1756T>A)
dbSNP
16g.51139309A>CCA395883278SALL1c.2913T>G (p.Asp971Glu)
c.2622T>G (p.Asp874Glu)
c.77-1757T>G (n.77-1757T>G)
16g.51139309A>GCA495780226SALL1c.2913T>C (p.Asp971=)
c.2622T>C (p.Asp874=)
c.77-1757T>C (n.77-1757T>C)
16g.51139309A>TCA395883280SALL1c.2913T>A (p.Asp971Glu)
c.2622T>A (p.Asp874Glu)
c.77-1757T>A (n.77-1757T>A)
16g.51139310T>ACA395883284SALL1c.2912A>T (p.Asp971Val)
c.2621A>T (p.Asp874Val)
c.77-1758A>T (n.77-1758A>T)
16g.51139310T>CCA395883282SALL1c.2912A>G (p.Asp971Gly)
c.2621A>G (p.Asp874Gly)
c.77-1758A>G (n.77-1758A>G)
gnomAD v4
16g.51139310T>GCA395883283SALL1c.2912A>C (p.Asp971Ala)
c.2621A>C (p.Asp874Ala)
c.77-1758A>C (n.77-1758A>C)
16g.51139311C>ACA395883287SALL1c.2911G>T (p.Asp971Tyr)
c.2620G>T (p.Asp874Tyr)
c.77-1759G>T (n.77-1759G>T)
16g.51139311C>GCA395883289SALL1c.2911G>C (p.Asp971His)
c.2620G>C (p.Asp874His)
c.77-1759G>C (n.77-1759G>C)
gnomAD v4
16g.51139311C>TCA395883290SALL1c.2911G>A (p.Asp971Asn)
c.2620G>A (p.Asp874Asn)
c.77-1759G>A (n.77-1759G>A)
COSMIC
16g.51139312C>ACA395883291SALL1c.2910G>T (p.Leu970Phe)
c.2619G>T (p.Leu873Phe)
c.77-1760G>T (n.77-1760G>T)
16g.51139312C>GCA395883292SALL1c.2910G>C (p.Leu970Phe)
c.2619G>C (p.Leu873Phe)
c.77-1760G>C (n.77-1760G>C)
16g.51139312C>TCA495780228SALL1c.2910G>A (p.Leu970=)
c.2619G>A (p.Leu873=)
c.77-1760G>A (n.77-1760G>A)
16g.51139313A=CA2222017752SALL1c.2909T= (p.Leu970=)
c.2618T= (p.Leu873=)
c.77-1761T= (n.77-1761T=)
16g.51139313A>CCA395883293SALL1c.2909T>G (p.Leu970Trp)
c.2618T>G (p.Leu873Trp)
c.77-1761T>G (n.77-1761T>G)
16g.51139313A>GCA395883295SALL1c.2909T>C (p.Leu970Ser)
c.2618T>C (p.Leu873Ser)
c.77-1761T>C (n.77-1761T>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139313A>TCA395883297SALL1c.2909T>A (p.Leu970Ter)
c.2618T>A (p.Leu873Ter)
c.77-1761T>A (n.77-1761T>A)
16g.51139314A>CCA395883299SALL1c.2908T>G (p.Leu970Val)
c.2617T>G (p.Leu873Val)
c.77-1762T>G (n.77-1762T>G)
16g.51139314A>GCA495780230SALL1c.2908T>C (p.Leu970=)
c.2617T>C (p.Leu873=)
c.77-1762T>C (n.77-1762T>C)
16g.51139314A>TCA395883301SALL1c.2908T>A (p.Leu970Met)
c.2617T>A (p.Leu873Met)
c.77-1762T>A (n.77-1762T>A)
16g.51139315A=CA2222017762SALL1c.2907T= (p.Ala969=)
c.2616T= (p.Ala872=)
c.77-1763T= (n.77-1763T=)
16g.51139315A>CCA495780231SALL1c.2907T>G (p.Ala969=)
c.2616T>G (p.Ala872=)
c.77-1763T>G (n.77-1763T>G)
16g.51139315A>GCA281301012SALL1c.2907T>C (p.Ala969=)
c.2616T>C (p.Ala872=)
c.77-1763T>C (n.77-1763T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139315A>TCA495780232SALL1c.2907T>A (p.Ala969=)
c.2616T>A (p.Ala872=)
c.77-1763T>A (n.77-1763T>A)
16g.51139316G>ACA395883303SALL1c.2906C>T (p.Ala969Val)
c.2615C>T (p.Ala872Val)
c.77-1764C>T (n.77-1764C>T)
16g.51139316G>CCA395883305SALL1c.2906C>G (p.Ala969Gly)
c.2615C>G (p.Ala872Gly)
c.77-1764C>G (n.77-1764C>G)
gnomAD v4
16g.51139316G>TCA395883306SALL1c.2906C>A (p.Ala969Asp)
c.2615C>A (p.Ala872Asp)
c.77-1764C>A (n.77-1764C>A)
16g.51139317C>ACA395883309SALL1c.2905G>T (p.Ala969Ser)
c.2614G>T (p.Ala872Ser)
c.77-1765G>T (n.77-1765G>T)
16g.51139317C=CA2222017770SALL1c.2905G= (p.Ala969=)
c.2614G= (p.Ala872=)
c.77-1765G= (n.77-1765G=)
16g.51139317C>GCA395883312SALL1c.2905G>C (p.Ala969Pro)
c.2614G>C (p.Ala872Pro)
c.77-1765G>C (n.77-1765G>C)
16g.51139317C>TCA8053018SALL1c.2905G>A (p.Ala969Thr)
c.2614G>A (p.Ala872Thr)
c.77-1765G>A (n.77-1765G>A)
dbSNP ExAC
16g.51139318C>ACA495780234SALL1c.2904G>T (p.Gly968=)
c.2613G>T (p.Gly871=)
c.77-1766G>T (n.77-1766G>T)
gnomAD v4
16g.51139318C=CA2222017774SALL1c.2904G= (p.Gly968=)
c.2613G= (p.Gly871=)
c.77-1766G= (n.77-1766G=)
16g.51139318C>GCA495780235SALL1c.2904G>C (p.Gly968=)
c.2613G>C (p.Gly871=)
c.77-1766G>C (n.77-1766G>C)
dbSNP
16g.51139318C>TCA8053019SALL1c.2904G>A (p.Gly968=)
c.2613G>A (p.Gly871=)
c.77-1766G>A (n.77-1766G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.51139319C>ACA395883316SALL1c.2903G>T (p.Gly968Val)
c.2612G>T (p.Gly871Val)
c.77-1767G>T (n.77-1767G>T)
16g.51139319C>GCA395883318SALL1c.2903G>C (p.Gly968Ala)
c.2612G>C (p.Gly871Ala)
c.77-1767G>C (n.77-1767G>C)
16g.51139319C>TCA395883320SALL1c.2903G>A (p.Gly968Glu)
c.2612G>A (p.Gly871Glu)
c.77-1767G>A (n.77-1767G>A)
gnomAD v4 COSMIC
16g.51139320C>ACA395883322SALL1c.2902G>T (p.Gly968Trp)
c.2611G>T (p.Gly871Trp)
c.77-1768G>T (n.77-1768G>T)
16g.51139320C>GCA395883323SALL1c.2902G>C (p.Gly968Arg)
c.2611G>C (p.Gly871Arg)
c.77-1768G>C (n.77-1768G>C)
16g.51139320C>TCA395883325SALL1c.2902G>A (p.Gly968Arg)
c.2611G>A (p.Gly871Arg)
c.77-1768G>A (n.77-1768G>A)
16g.51139321A>CCA495780242SALL1c.2901T>G (p.Gly967=)
c.2610T>G (p.Gly870=)
c.77-1769T>G (n.77-1769T>G)
16g.51139321A>GCA495780243SALL1c.2901T>C (p.Gly967=)
c.2610T>C (p.Gly870=)
c.77-1769T>C (n.77-1769T>C)
16g.51139321A>TCA495780244SALL1c.2901T>A (p.Gly967=)
c.2610T>A (p.Gly870=)
c.77-1769T>A (n.77-1769T>A)
16g.51139322C>ACA395883327SALL1c.2900G>T (p.Gly967Val)
c.2609G>T (p.Gly870Val)
c.77-1770G>T (n.77-1770G>T)
16g.51139322C=CA2222017777SALL1c.2900G= (p.Gly967=)
c.2609G= (p.Gly870=)
c.77-1770G= (n.77-1770G=)
16g.51139322C>GCA395883329SALL1c.2900G>C (p.Gly967Ala)
c.2609G>C (p.Gly870Ala)
c.77-1770G>C (n.77-1770G>C)
16g.51139322C>TCA395883331SALL1c.2900G>A (p.Gly967Asp)
c.2609G>A (p.Gly870Asp)
c.77-1770G>A (n.77-1770G>A)
dbSNP gnomAD v4
16g.51139323C>ACA8053020SALL1c.2899G>T (p.Gly967Cys)
c.2608G>T (p.Gly870Cys)
c.77-1771G>T (n.77-1771G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139323C=CA2222017780SALL1c.2899G= (p.Gly967=)
c.2608G= (p.Gly870=)
c.77-1771G= (n.77-1771G=)
16g.51139323C>GCA395883333SALL1c.2899G>C (p.Gly967Arg)
c.2608G>C (p.Gly870Arg)
c.77-1771G>C (n.77-1771G>C)
16g.51139323C>TCA395883335SALL1c.2899G>A (p.Gly967Ser)
c.2608G>A (p.Gly870Ser)
c.77-1771G>A (n.77-1771G>A)
16g.51139324A>CCA395883340SALL1c.2898T>G (p.Asn966Lys)
c.2607T>G (p.Asn869Lys)
c.77-1772T>G (n.77-1772T>G)
16g.51139324A>GCA495780061SALL1c.2898T>C (p.Asn966=)
c.2607T>C (p.Asn869=)
c.77-1772T>C (n.77-1772T>C)
gnomAD v4
16g.51139324A>TCA395883338SALL1c.2898T>A (p.Asn966Lys)
c.2607T>A (p.Asn869Lys)
c.77-1772T>A (n.77-1772T>A)
gnomAD v4
16g.51139325T>ACA395883342SALL1c.2897A>T (p.Asn966Ile)
c.2606A>T (p.Asn869Ile)
c.77-1773A>T (n.77-1773A>T)
16g.51139325T>CCA395883344SALL1c.2897A>G (p.Asn966Ser)
c.2606A>G (p.Asn869Ser)
c.77-1773A>G (n.77-1773A>G)
16g.51139325T>GCA395883345SALL1c.2897A>C (p.Asn966Thr)
c.2606A>C (p.Asn869Thr)
c.77-1773A>C (n.77-1773A>C)
16g.51139326T>ACA395883348SALL1c.2896A>T (p.Asn966Tyr)
c.2605A>T (p.Asn869Tyr)
c.77-1774A>T (n.77-1774A>T)
16g.51139326T>CCA395883350SALL1c.2896A>G (p.Asn966Asp)
c.2605A>G (p.Asn869Asp)
c.77-1774A>G (n.77-1774A>G)
16g.51139326T>GCA395883351SALL1c.2896A>C (p.Asn966His)
c.2605A>C (p.Asn869His)
c.77-1774A>C (n.77-1774A>C)
16g.51139327C>ACA495780062SALL1c.2895G>T (p.Val965=)
c.2604G>T (p.Val868=)
c.77-1775G>T (n.77-1775G>T)
16g.51139327C=CA2222017782SALL1c.2895G= (p.Val965=)
c.2604G= (p.Val868=)
c.77-1775G= (n.77-1775G=)
16g.51139327C>GCA495780063SALL1c.2895G>C (p.Val965=)
c.2604G>C (p.Val868=)
c.77-1775G>C (n.77-1775G>C)
16g.51139327C>TCA495780064SALL1c.2895G>A (p.Val965=)
c.2604G>A (p.Val868=)
c.77-1775G>A (n.77-1775G>A)
dbSNP
16g.51139328A>CCA395883353SALL1c.2894T>G (p.Val965Gly)
c.2603T>G (p.Val868Gly)
c.77-1776T>G (n.77-1776T>G)
16g.51139328A>GCA395883354SALL1c.2894T>C (p.Val965Ala)
c.2603T>C (p.Val868Ala)
c.77-1776T>C (n.77-1776T>C)
16g.51139328A>TCA395883356SALL1c.2894T>A (p.Val965Glu)
c.2603T>A (p.Val868Glu)
c.77-1776T>A (n.77-1776T>A)
16g.51139329C>ACA8053021SALL1c.2893G>T (p.Val965Leu)
c.2602G>T (p.Val868Leu)
c.77-1777G>T (n.77-1777G>T)
dbSNP ExAC gnomAD v2
16g.51139329C=CA2222017786SALL1c.2893G= (p.Val965=)
c.2602G= (p.Val868=)
c.77-1777G= (n.77-1777G=)
16g.51139329C>GCA395883359SALL1c.2893G>C (p.Val965Leu)
c.2602G>C (p.Val868Leu)
c.77-1777G>C (n.77-1777G>C)
16g.51139329C>TCA395883361SALL1c.2893G>A (p.Val965Met)
c.2602G>A (p.Val868Met)
c.77-1777G>A (n.77-1777G>A)
gnomAD v4
16g.51139330T>ACA495780065SALL1c.2892A>T (p.Pro964=)
c.2601A>T (p.Pro867=)
c.77-1778A>T (n.77-1778A>T)
16g.51139330T>CCA495780066SALL1c.2892A>G (p.Pro964=)
c.2601A>G (p.Pro867=)
c.77-1778A>G (n.77-1778A>G)
gnomAD v4
16g.51139330T>GCA495780067SALL1c.2892A>C (p.Pro964=)
c.2601A>C (p.Pro867=)
c.77-1778A>C (n.77-1778A>C)
16g.51139331G>ACA395883366SALL1c.2891C>T (p.Pro964Leu)
c.2600C>T (p.Pro867Leu)
c.77-1779C>T (n.77-1779C>T)
16g.51139331G>CCA395883365SALL1c.2891C>G (p.Pro964Arg)
c.2600C>G (p.Pro867Arg)
c.77-1779C>G (n.77-1779C>G)
16g.51139331G>TCA395883363SALL1c.2891C>A (p.Pro964Gln)
c.2600C>A (p.Pro867Gln)
c.77-1779C>A (n.77-1779C>A)
gnomAD v4
16g.51139332G>ACA395883367SALL1c.2890C>T (p.Pro964Ser)
c.2599C>T (p.Pro867Ser)
c.77-1780C>T (n.77-1780C>T)
COSMIC
16g.51139332G>CCA395883369SALL1c.2890C>G (p.Pro964Ala)
c.2599C>G (p.Pro867Ala)
c.77-1780C>G (n.77-1780C>G)
16g.51139332G>TCA395883371SALL1c.2890C>A (p.Pro964Thr)
c.2599C>A (p.Pro867Thr)
c.77-1780C>A (n.77-1780C>A)
gnomAD v4
16g.51139333G>ACA281301020SALL1c.2889C>T (p.Thr963=)
c.2598C>T (p.Thr866=)
c.77-1781C>T (n.77-1781C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139333G>CCA495780068SALL1c.2889C>G (p.Thr963=)
c.2598C>G (p.Thr866=)
c.77-1781C>G (n.77-1781C>G)
16g.51139333G=CA2222017789SALL1c.2889C= (p.Thr963=)
c.2598C= (p.Thr866=)
c.77-1781C= (n.77-1781C=)
16g.51139333G>TCA495780069SALL1c.2889C>A (p.Thr963=)
c.2598C>A (p.Thr866=)
c.77-1781C>A (n.77-1781C>A)
16g.51139334G>ACA395883373SALL1c.2888C>T (p.Thr963Ile)
c.2597C>T (p.Thr866Ile)
c.77-1782C>T (n.77-1782C>T)
dbSNP
16g.51139334G>CCA395883375SALL1c.2888C>G (p.Thr963Ser)
c.2597C>G (p.Thr866Ser)
c.77-1782C>G (n.77-1782C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139334G=CA2222017792SALL1c.2888C= (p.Thr963=)
c.2597C= (p.Thr866=)
c.77-1782C= (n.77-1782C=)
16g.51139334G>TCA395883377SALL1c.2888C>A (p.Thr963Asn)
c.2597C>A (p.Thr866Asn)
c.77-1782C>A (n.77-1782C>A)
16g.51139335T>ACA395883382SALL1c.2887A>T (p.Thr963Ser)
c.2596A>T (p.Thr866Ser)
c.77-1783A>T (n.77-1783A>T)
16g.51139335T>CCA395883381SALL1c.2887A>G (p.Thr963Ala)
c.2596A>G (p.Thr866Ala)
c.77-1783A>G (n.77-1783A>G)
16g.51139335T>GCA395883379SALL1c.2887A>C (p.Thr963Pro)
c.2596A>C (p.Thr866Pro)
c.77-1783A>C (n.77-1783A>C)
16g.51139336G>ACA495780070SALL1c.2886C>T (p.Pro962=)
c.2595C>T (p.Pro865=)
c.77-1784C>T (n.77-1784C>T)
16g.51139336G>CCA495780071SALL1c.2886C>G (p.Pro962=)
c.2595C>G (p.Pro865=)
c.77-1784C>G (n.77-1784C>G)
16g.51139336G>TCA495780072SALL1c.2886C>A (p.Pro962=)
c.2595C>A (p.Pro865=)
c.77-1784C>A (n.77-1784C>A)
16g.51139337G>ACA395883385SALL1c.2885C>T (p.Pro962Leu)
c.2594C>T (p.Pro865Leu)
c.77-1785C>T (n.77-1785C>T)
16g.51139337G>CCA395883387SALL1c.2885C>G (p.Pro962Arg)
c.2594C>G (p.Pro865Arg)
c.77-1785C>G (n.77-1785C>G)
16g.51139337G>TCA395883389SALL1c.2885C>A (p.Pro962His)
c.2594C>A (p.Pro865His)
c.77-1785C>A (n.77-1785C>A)
16g.51139338G>ACA395883391SALL1c.2884C>T (p.Pro962Ser)
c.2593C>T (p.Pro865Ser)
c.77-1786C>T (n.77-1786C>T)
dbSNP gnomAD v3 gnomAD v4
16g.51139338G>CCA395883393SALL1c.2884C>G (p.Pro962Ala)
c.2593C>G (p.Pro865Ala)
c.77-1786C>G (n.77-1786C>G)
16g.51139338G=CA2222017793SALL1c.2884C= (p.Pro962=)
c.2593C= (p.Pro865=)
c.77-1786C= (n.77-1786C=)
16g.51139338G>TCA395883395SALL1c.2884C>A (p.Pro962Thr)
c.2593C>A (p.Pro865Thr)
c.77-1786C>A (n.77-1786C>A)
16g.51139339A>CCA495780073SALL1c.2883T>G (p.Ser961=)
c.2592T>G (p.Ser864=)
c.77-1787T>G (n.77-1787T>G)
16g.51139339A>GCA495780074SALL1c.2883T>C (p.Ser961=)
c.2592T>C (p.Ser864=)
c.77-1787T>C (n.77-1787T>C)
16g.51139339A>TCA495780075SALL1c.2883T>A (p.Ser961=)
c.2592T>A (p.Ser864=)
c.77-1787T>A (n.77-1787T>A)
16g.51139340G>ACA8053022SALL1c.2882C>T (p.Ser961Phe)
c.2591C>T (p.Ser864Phe)
c.77-1788C>T (n.77-1788C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139340G>CCA395883398SALL1c.2882C>G (p.Ser961Cys)
c.2591C>G (p.Ser864Cys)
c.77-1788C>G (n.77-1788C>G)
gnomAD v4
16g.51139340G=CA2222017797SALL1c.2882C= (p.Ser961=)
c.2591C= (p.Ser864=)
c.77-1788C= (n.77-1788C=)
16g.51139340G>TCA395883400SALL1c.2882C>A (p.Ser961Tyr)
c.2591C>A (p.Ser864Tyr)
c.77-1788C>A (n.77-1788C>A)
16g.51139341A>CCA395883403SALL1c.2881T>G (p.Ser961Ala)
c.2590T>G (p.Ser864Ala)
c.77-1789T>G (n.77-1789T>G)
16g.51139341A>GCA395883405SALL1c.2881T>C (p.Ser961Pro)
c.2590T>C (p.Ser864Pro)
c.77-1789T>C (n.77-1789T>C)
16g.51139341A>TCA395883407SALL1c.2881T>A (p.Ser961Thr)
c.2590T>A (p.Ser864Thr)
c.77-1789T>A (n.77-1789T>A)
gnomAD v4
16g.51139342C>ACA395883409SALL1c.2880G>T (p.Leu960Phe)
c.2589G>T (p.Leu863Phe)
c.77-1790G>T (n.77-1790G>T)
dbSNP
16g.51139342C=CA2222017799SALL1c.2880G= (p.Leu960=)
c.2589G= (p.Leu863=)
c.77-1790G= (n.77-1790G=)
16g.51139342C>GCA395883411SALL1c.2880G>C (p.Leu960Phe)
c.2589G>C (p.Leu863Phe)
c.77-1790G>C (n.77-1790G>C)
16g.51139342C>TCA495780076SALL1c.2880G>A (p.Leu960=)
c.2589G>A (p.Leu863=)
c.77-1790G>A (n.77-1790G>A)
16g.51139343A>CCA395883413SALL1c.2879T>G (p.Leu960Trp)
c.2588T>G (p.Leu863Trp)
c.77-1791T>G (n.77-1791T>G)
16g.51139343A>GCA395883415SALL1c.2879T>C (p.Leu960Ser)
c.2588T>C (p.Leu863Ser)
c.77-1791T>C (n.77-1791T>C)
16g.51139343A>TCA395883417SALL1c.2879T>A (p.Leu960Ter)
c.2588T>A (p.Leu863Ter)
c.77-1791T>A (n.77-1791T>A)
16g.51139344A>CCA395883418SALL1c.2878T>G (p.Leu960Val)
c.2587T>G (p.Leu863Val)
c.77-1792T>G (n.77-1792T>G)
16g.51139344A>GCA495780077SALL1c.2878T>C (p.Leu960=)
c.2587T>C (p.Leu863=)
c.77-1792T>C (n.77-1792T>C)
16g.51139344A>TCA395883421SALL1c.2878T>A (p.Leu960Met)
c.2587T>A (p.Leu863Met)
c.77-1792T>A (n.77-1792T>A)
16g.51139345A>CCA495780080SALL1c.2877T>G (p.Gly959=)
c.2586T>G (p.Gly862=)
c.77-1793T>G (n.77-1793T>G)
16g.51139345A>GCA495780079SALL1c.2877T>C (p.Gly959=)
c.2586T>C (p.Gly862=)
c.77-1793T>C (n.77-1793T>C)
16g.51139345A>TCA495780078SALL1c.2877T>A (p.Gly959=)
c.2586T>A (p.Gly862=)
c.77-1793T>A (n.77-1793T>A)
16g.51139346C>ACA395883424SALL1c.2876G>T (p.Gly959Val)
c.2585G>T (p.Gly862Val)
c.77-1794G>T (n.77-1794G>T)
dbSNP
16g.51139346C=CA2222017801SALL1c.2876G= (p.Gly959=)
c.2585G= (p.Gly862=)
c.77-1794G= (n.77-1794G=)
16g.51139346C>GCA395883426SALL1c.2876G>C (p.Gly959Ala)
c.2585G>C (p.Gly862Ala)
c.77-1794G>C (n.77-1794G>C)
16g.51139346C>TCA395883427SALL1c.2876G>A (p.Gly959Asp)
c.2585G>A (p.Gly862Asp)
c.77-1794G>A (n.77-1794G>A)
16g.51139346_51139347insACAACCCAAACACACCCAACACA2807012904SALL1c.2875_2876insTGTTGGGTGTGTTTGGGTTGT (p.Gly959delinsValLeuGlyValPheGlyLeuCys)
c.2584_2585insTGTTGGGTGTGTTTGGGTTGT (p.Gly862delinsValLeuGlyValPheGlyLeuCys)
c.77-1795_77-1794insTGTTGGGTGTGTTTGGGTTGT (n.77-1795_77-1794insTGTTGGGTGTGTTTGGGTTGT)
16g.51139347C>ACA395883430SALL1c.2875G>T (p.Gly959Cys)
c.2584G>T (p.Gly862Cys)
c.77-1795G>T (n.77-1795G>T)
gnomAD v4
16g.51139347C>GCA395883434SALL1c.2875G>C (p.Gly959Arg)
c.2584G>C (p.Gly862Arg)
c.77-1795G>C (n.77-1795G>C)
16g.51139347C>TCA395883432SALL1c.2875G>A (p.Gly959Ser)
c.2584G>A (p.Gly862Ser)
c.77-1795G>A (n.77-1795G>A)
16g.51139348A=CA2222017805SALL1c.2874T= (p.Asn958=)
c.2583T= (p.Asn861=)
c.77-1796T= (n.77-1796T=)
16g.51139348A>CCA395883436SALL1c.2874T>G (p.Asn958Lys)
c.2583T>G (p.Asn861Lys)
c.77-1796T>G (n.77-1796T>G)
16g.51139348A>GCA495780081SALL1c.2874T>C (p.Asn958=)
c.2583T>C (p.Asn861=)
c.77-1796T>C (n.77-1796T>C)
dbSNP gnomAD v4
16g.51139348A>TCA395883438SALL1c.2874T>A (p.Asn958Lys)
c.2583T>A (p.Asn861Lys)
c.77-1796T>A (n.77-1796T>A)
16g.51139349T>ACA395883442SALL1c.2873A>T (p.Asn958Ile)
c.2582A>T (p.Asn861Ile)
c.77-1797A>T (n.77-1797A>T)
16g.51139349T>CCA8053023SALL1c.2873A>G (p.Asn958Ser)
c.2582A>G (p.Asn861Ser)
c.77-1797A>G (n.77-1797A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139349T>GCA395883444SALL1c.2873A>C (p.Asn958Thr)
c.2582A>C (p.Asn861Thr)
c.77-1797A>C (n.77-1797A>C)
gnomAD v4
16g.51139349T=CA2222017808SALL1c.2873A= (p.Asn958=)
c.2582A= (p.Asn861=)
c.77-1797A= (n.77-1797A=)
16g.51139350T>ACA395883446SALL1c.2872A>T (p.Asn958Tyr)
c.2581A>T (p.Asn861Tyr)
c.77-1798A>T (n.77-1798A>T)
16g.51139350T>CCA395883449SALL1c.2872A>G (p.Asn958Asp)
c.2581A>G (p.Asn861Asp)
c.77-1798A>G (n.77-1798A>G)
16g.51139350T>GCA395883450SALL1c.2872A>C (p.Asn958His)
c.2581A>C (p.Asn861His)
c.77-1798A>C (n.77-1798A>C)
16g.51139351G>ACA495780082SALL1c.2871C>T (p.Ala957=)
c.2580C>T (p.Ala860=)
c.77-1799C>T (n.77-1799C>T)
dbSNP gnomAD v2 gnomAD v4
16g.51139351G>CCA495780084SALL1c.2871C>G (p.Ala957=)
c.2580C>G (p.Ala860=)
c.77-1799C>G (n.77-1799C>G)
16g.51139351G=CA2222017811SALL1c.2871C= (p.Ala957=)
c.2580C= (p.Ala860=)
c.77-1799C= (n.77-1799C=)
16g.51139351G>TCA495780083SALL1c.2871C>A (p.Ala957=)
c.2580C>A (p.Ala860=)
c.77-1799C>A (n.77-1799C>A)
gnomAD v4
16g.51139352G>ACA395883451SALL1c.2870C>T (p.Ala957Val)
c.2579C>T (p.Ala860Val)
c.77-1800C>T (n.77-1800C>T)
gnomAD v4
16g.51139352G>CCA395883453SALL1c.2870C>G (p.Ala957Gly)
c.2579C>G (p.Ala860Gly)
c.77-1800C>G (n.77-1800C>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.51139352G=CA2222017819SALL1c.2870C= (p.Ala957=)
c.2579C= (p.Ala860=)
c.77-1800C= (n.77-1800C=)
16g.51139352G>TCA395883455SALL1c.2870C>A (p.Ala957Asp)
c.2579C>A (p.Ala860Asp)
c.77-1800C>A (n.77-1800C>A)
dbSNP gnomAD v4
16g.51139353C>ACA395883458SALL1c.2869G>T (p.Ala957Ser)
c.2578G>T (p.Ala860Ser)
c.77-1801G>T (n.77-1801G>T)
dbSNP gnomAD v3 gnomAD v4
16g.51139353C=CA2222017822SALL1c.2869G= (p.Ala957=)
c.2578G= (p.Ala860=)
c.77-1801G= (n.77-1801G=)
16g.51139353C>GCA395883459SALL1c.2869G>C (p.Ala957Pro)
c.2578G>C (p.Ala860Pro)
c.77-1801G>C (n.77-1801G>C)
16g.51139353C>TCA395883461SALL1c.2869G>A (p.Ala957Thr)
c.2578G>A (p.Ala860Thr)
c.77-1801G>A (n.77-1801G>A)
16g.51139354A>CCA395883463SALL1c.2868T>G (p.Phe956Leu)
c.2577T>G (p.Phe859Leu)
c.77-1802T>G (n.77-1802T>G)
16g.51139354A>GCA495780085SALL1c.2868T>C (p.Phe956=)
c.2577T>C (p.Phe859=)
c.77-1802T>C (n.77-1802T>C)
16g.51139354A>TCA395883465SALL1c.2868T>A (p.Phe956Leu)
c.2577T>A (p.Phe859Leu)
c.77-1802T>A (n.77-1802T>A)
16g.51139355A>CCA395883468SALL1c.2867T>G (p.Phe956Cys)
c.2576T>G (p.Phe859Cys)
c.77-1803T>G (n.77-1803T>G)
16g.51139355A>GCA395883469SALL1c.2867T>C (p.Phe956Ser)
c.2576T>C (p.Phe859Ser)
c.77-1803T>C (n.77-1803T>C)
16g.51139355A>TCA395883471SALL1c.2867T>A (p.Phe956Tyr)
c.2576T>A (p.Phe859Tyr)
c.77-1803T>A (n.77-1803T>A)
16g.51139356A>CCA395883474SALL1c.2866T>G (p.Phe956Val)
c.2575T>G (p.Phe859Val)
c.77-1804T>G (n.77-1804T>G)
16g.51139356A>GCA395883475SALL1c.2866T>C (p.Phe956Leu)
c.2575T>C (p.Phe859Leu)
c.77-1804T>C (n.77-1804T>C)
16g.51139356A>TCA395883477SALL1c.2866T>A (p.Phe956Ile)
c.2575T>A (p.Phe859Ile)
c.77-1804T>A (n.77-1804T>A)
16g.51139357C>ACA395883479SALL1c.2865G>T (p.Glu955Asp)
c.2574G>T (p.Glu858Asp)
c.77-1805G>T (n.77-1805G>T)
gnomAD v4
16g.51139357C=CA2222017823SALL1c.2865G= (p.Glu955=)
c.2574G= (p.Glu858=)
c.77-1805G= (n.77-1805G=)
16g.51139357C>GCA395883481SALL1c.2865G>C (p.Glu955Asp)
c.2574G>C (p.Glu858Asp)
c.77-1805G>C (n.77-1805G>C)
gnomAD v4
16g.51139357C>TCA495780086SALL1c.2865G>A (p.Glu955=)
c.2574G>A (p.Glu858=)
c.77-1805G>A (n.77-1805G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139358T>ACA395883484SALL1c.2864A>T (p.Glu955Val)
c.2573A>T (p.Glu858Val)
c.77-1806A>T (n.77-1806A>T)
16g.51139358T>CCA395883485SALL1c.2864A>G (p.Glu955Gly)
c.2573A>G (p.Glu858Gly)
c.77-1806A>G (n.77-1806A>G)
COSMIC
16g.51139358T>GCA395883488SALL1c.2864A>C (p.Glu955Ala)
c.2573A>C (p.Glu858Ala)
c.77-1806A>C (n.77-1806A>C)
16g.51139359C>ACA395883493SALL1c.2863G>T (p.Glu955Ter)
c.2572G>T (p.Glu858Ter)
c.77-1807G>T (n.77-1807G>T)
16g.51139359C=CA2222017826SALL1c.2863G= (p.Glu955=)
c.2572G= (p.Glu858=)
c.77-1807G= (n.77-1807G=)
16g.51139359C>GCA395883491SALL1c.2863G>C (p.Glu955Gln)
c.2572G>C (p.Glu858Gln)
c.77-1807G>C (n.77-1807G>C)
16g.51139359C>TCA8053024SALL1c.2863G>A (p.Glu955Lys)
c.2572G>A (p.Glu858Lys)
c.77-1807G>A (n.77-1807G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139360G>ACA8053025SALL1c.2862C>T (p.Ser954=)
c.2571C>T (p.Ser857=)
c.77-1808C>T (n.77-1808C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.51139360G>CCA395883498SALL1c.2862C>G (p.Ser954Arg)
c.2571C>G (p.Ser857Arg)
c.77-1808C>G (n.77-1808C>G)
16g.51139360G=CA2222017830SALL1c.2862C= (p.Ser954=)
c.2571C= (p.Ser857=)
c.77-1808C= (n.77-1808C=)
16g.51139360G>TCA395883496SALL1c.2862C>A (p.Ser954Arg)
c.2571C>A (p.Ser857Arg)
c.77-1808C>A (n.77-1808C>A)
16g.51139361C>ACA395883500SALL1c.2861G>T (p.Ser954Ile)
c.2570G>T (p.Ser857Ile)
c.77-1809G>T (n.77-1809G>T)
16g.51139361C=CA2222017832SALL1c.2861G= (p.Ser954=)
c.2570G= (p.Ser857=)
c.77-1809G= (n.77-1809G=)
16g.51139361C>GCA395883504SALL1c.2861G>C (p.Ser954Thr)
c.2570G>C (p.Ser857Thr)
c.77-1809G>C (n.77-1809G>C)
16g.51139361C>TCA395883503SALL1c.2861G>A (p.Ser954Asn)
c.2570G>A (p.Ser857Asn)
c.77-1809G>A (n.77-1809G>A)
dbSNP gnomAD v2 gnomAD v4
16g.51139362T>ACA395883508SALL1c.2860A>T (p.Ser954Cys)
c.2569A>T (p.Ser857Cys)
c.77-1810A>T (n.77-1810A>T)
16g.51139362T>CCA395883511SALL1c.2860A>G (p.Ser954Gly)
c.2569A>G (p.Ser857Gly)
c.77-1810A>G (n.77-1810A>G)
16g.51139362T>GCA395883509SALL1c.2860A>C (p.Ser954Arg)
c.2569A>C (p.Ser857Arg)
c.77-1810A>C (n.77-1810A>C)
16g.51139363delCA2560705920SALL1c.2860del (p.Ser954AlafsTer12)
c.2569del (p.Ser857AlafsTer12)
c.77-1810del (n.77-1810del)
16g.51139363T>ACA495780087SALL1c.2859A>T (p.Pro953=)
c.2568A>T (p.Pro856=)
c.77-1811A>T (n.77-1811A>T)
16g.51139363T>CCA495780088SALL1c.2859A>G (p.Pro953=)
c.2568A>G (p.Pro856=)
c.77-1811A>G (n.77-1811A>G)
16g.51139363T>GCA495780089SALL1c.2859A>C (p.Pro953=)
c.2568A>C (p.Pro856=)
c.77-1811A>C (n.77-1811A>C)
16g.51139364G>ACA395883513SALL1c.2858C>T (p.Pro953Leu)
c.2567C>T (p.Pro856Leu)
c.77-1812C>T (n.77-1812C>T)
16g.51139364G>CCA395883516SALL1c.2858C>G (p.Pro953Arg)
c.2567C>G (p.Pro856Arg)
c.77-1812C>G (n.77-1812C>G)
16g.51139364G>TCA395883518SALL1c.2858C>A (p.Pro953Gln)
c.2567C>A (p.Pro856Gln)
c.77-1812C>A (n.77-1812C>A)
16g.51139365G>ACA395883520SALL1c.2857C>T (p.Pro953Ser)
c.2566C>T (p.Pro856Ser)
c.77-1813C>T (n.77-1813C>T)
gnomAD v4
16g.51139365G>CCA395883522SALL1c.2857C>G (p.Pro953Ala)
c.2566C>G (p.Pro856Ala)
c.77-1813C>G (n.77-1813C>G)
16g.51139365G=CA2222017835SALL1c.2857C= (p.Pro953=)
c.2566C= (p.Pro856=)
c.77-1813C= (n.77-1813C=)
16g.51139365G>TCA8053026SALL1c.2857C>A (p.Pro953Thr)
c.2566C>A (p.Pro856Thr)
c.77-1813C>A (n.77-1813C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139365_51139367delCA2807012905SALL1c.2855_2857del (p.Val952_Pro953delinsAla)
c.2564_2566del (p.Val855_Pro856delinsAla)
c.77-1815_77-1813del (n.77-1815_77-1813del)
16g.51139366G>ACA495780092SALL1c.2856C>T (p.Val952=)
c.2565C>T (p.Val855=)
c.77-1814C>T (n.77-1814C>T)
16g.51139366G>CCA495780091SALL1c.2856C>G (p.Val952=)
c.2565C>G (p.Val855=)
c.77-1814C>G (n.77-1814C>G)
16g.51139366G>TCA495780090SALL1c.2856C>A (p.Val952=)
c.2565C>A (p.Val855=)
c.77-1814C>A (n.77-1814C>A)
16g.51139367A>CCA395883525SALL1c.2855T>G (p.Val952Gly)
c.2564T>G (p.Val855Gly)
c.77-1815T>G (n.77-1815T>G)
16g.51139367A>GCA395883527SALL1c.2855T>C (p.Val952Ala)
c.2564T>C (p.Val855Ala)
c.77-1815T>C (n.77-1815T>C)
16g.51139367A>TCA395883528SALL1c.2855T>A (p.Val952Asp)
c.2564T>A (p.Val855Asp)
c.77-1815T>A (n.77-1815T>A)
16g.51139368C>ACA395883529SALL1c.2854G>T (p.Val952Phe)
c.2563G>T (p.Val855Phe)
c.77-1816G>T (n.77-1816G>T)
dbSNP gnomAD v3 gnomAD v4
16g.51139368C=CA2222017838SALL1c.2854G= (p.Val952=)
c.2563G= (p.Val855=)
c.77-1816G= (n.77-1816G=)
16g.51139368C>GCA395883530SALL1c.2854G>C (p.Val952Leu)
c.2563G>C (p.Val855Leu)
c.77-1816G>C (n.77-1816G>C)
16g.51139368C>TCA8053027SALL1c.2854G>A (p.Val952Ile)
c.2563G>A (p.Val855Ile)
c.77-1816G>A (n.77-1816G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139369C>ACA495780093SALL1c.2853G>T (p.Ala951=)
c.2562G>T (p.Ala854=)
c.77-1817G>T (n.77-1817G>T)
16g.51139369C=CA2222017842SALL1c.2853G= (p.Ala951=)
c.2562G= (p.Ala854=)
c.77-1817G= (n.77-1817G=)
16g.51139369C>GCA495780094SALL1c.2853G>C (p.Ala951=)
c.2562G>C (p.Ala854=)
c.77-1817G>C (n.77-1817G>C)
gnomAD v4 COSMIC
16g.51139369C>TCA8053028SALL1c.2853G>A (p.Ala951=)
c.2562G>A (p.Ala854=)
c.77-1817G>A (n.77-1817G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.51139369_51139370insCCTCA2807012906SALL1c.2852_2853insAGG (p.Ala951_Val952insGly)
c.2561_2562insAGG (p.Ala854_Val855insGly)
c.77-1818_77-1817insAGG (n.77-1818_77-1817insAGG)
16g.51139370G>ACA8053029SALL1c.2852C>T (p.Ala951Val)
c.2561C>T (p.Ala854Val)
c.77-1818C>T (n.77-1818C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139370G>CCA395883535SALL1c.2852C>G (p.Ala951Gly)
c.2561C>G (p.Ala854Gly)
c.77-1818C>G (n.77-1818C>G)
dbSNP gnomAD v2 gnomAD v4
16g.51139370G=CA2222017849SALL1c.2852C= (p.Ala951=)
c.2561C= (p.Ala854=)
c.77-1818C= (n.77-1818C=)
16g.51139370G>TCA395883538SALL1c.2852C>A (p.Ala951Glu)
c.2561C>A (p.Ala854Glu)
c.77-1818C>A (n.77-1818C>A)
dbSNP gnomAD v3 gnomAD v4
16g.51139370dupCA2567641251SALL1c.2852dup (p.Val952GlyfsTer24)
c.2561dup (p.Val855GlyfsTer24)
c.77-1818dup (n.77-1818dup)
16g.51139371C>ACA395883541SALL1c.2851G>T (p.Ala951Ser)
c.2560G>T (p.Ala854Ser)
c.77-1819G>T (n.77-1819G>T)
dbSNP gnomAD v4
16g.51139371C=CA2222017852SALL1c.2851G= (p.Ala951=)
c.2560G= (p.Ala854=)
c.77-1819G= (n.77-1819G=)
16g.51139371C>GCA395883543SALL1c.2851G>C (p.Ala951Pro)
c.2560G>C (p.Ala854Pro)
c.77-1819G>C (n.77-1819G>C)
16g.51139371C>TCA395883545SALL1c.2851G>A (p.Ala951Thr)
c.2560G>A (p.Ala854Thr)
c.77-1819G>A (n.77-1819G>A)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.51139372T>ACA395883547SALL1c.2850A>T (p.Arg950Ser)
c.2559A>T (p.Arg853Ser)
c.77-1820A>T (n.77-1820A>T)
16g.51139372T>CCA495780095SALL1c.2850A>G (p.Arg950=)
c.2559A>G (p.Arg853=)
c.77-1820A>G (n.77-1820A>G)
16g.51139372T>GCA395883549SALL1c.2850A>C (p.Arg950Ser)
c.2559A>C (p.Arg853Ser)
c.77-1820A>C (n.77-1820A>C)
16g.51139373C>ACA395883550SALL1c.2849G>T (p.Arg950Ile)
c.2558G>T (p.Arg853Ile)
c.77-1821G>T (n.77-1821G>T)
16g.51139373C=CA2222017855SALL1c.2849G= (p.Arg950=)
c.2558G= (p.Arg853=)
c.77-1821G= (n.77-1821G=)
16g.51139373C>GCA8053030SALL1c.2849G>C (p.Arg950Thr)
c.2558G>C (p.Arg853Thr)
c.77-1821G>C (n.77-1821G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139373C>TCA395883552SALL1c.2849G>A (p.Arg950Lys)
c.2558G>A (p.Arg853Lys)
c.77-1821G>A (n.77-1821G>A)
COSMIC

Number of alleles fetched