Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.51139173C>ACA395882190SALL1c.3049G>T (p.Asp1017Tyr)
c.2758G>T (p.Asp920Tyr)
c.77-1621G>T (n.77-1621G>T)
16g.51139173C>GCA395882193SALL1c.3049G>C (p.Asp1017His)
c.2758G>C (p.Asp920His)
c.77-1621G>C (n.77-1621G>C)
16g.51139173C>TCA395882196SALL1c.3049G>A (p.Asp1017Asn)
c.2758G>A (p.Asp920Asn)
c.77-1621G>A (n.77-1621G>A)
 gnomAD v4
16g.51139174C>ACA395882199SALL1c.3048G>T (p.Leu1016Phe)
c.2757G>T (p.Leu919Phe)
c.77-1622G>T (n.77-1622G>T)
16g.51139174C>GCA395882205SALL1c.3048G>C (p.Leu1016Phe)
c.2757G>C (p.Leu919Phe)
c.77-1622G>C (n.77-1622G>C)
16g.51139174C>TCA495780046SALL1c.3048G>A (p.Leu1016=)
c.2757G>A (p.Leu919=)
c.77-1622G>A (n.77-1622G>A)
16g.51139175A>CCA395882217SALL1c.3047T>G (p.Leu1016Trp)
c.2756T>G (p.Leu919Trp)
c.77-1623T>G (n.77-1623T>G)
16g.51139175A>GCA395882219SALL1c.3047T>C (p.Leu1016Ser)
c.2756T>C (p.Leu919Ser)
c.77-1623T>C (n.77-1623T>C)
16g.51139175A>TCA395882215SALL1c.3047T>A (p.Leu1016Ter)
c.2756T>A (p.Leu919Ter)
c.77-1623T>A (n.77-1623T>A)
16g.51139176A=CA2222017519SALL1c.3046T= (p.Leu1016=)
c.2755T= (p.Leu919=)
c.77-1624T= (n.77-1624T=)
16g.51139176A>CCA395882222SALL1c.3046T>G (p.Leu1016Val)
c.2755T>G (p.Leu919Val)
c.77-1624T>G (n.77-1624T>G)
 gnomAD v4
16g.51139176A>GCA495780047SALL1c.3046T>C (p.Leu1016=)
c.2755T>C (p.Leu919=)
c.77-1624T>C (n.77-1624T>C)
 dbSNP
16g.51139176A>TCA395882225SALL1c.3046T>A (p.Leu1016Met)
c.2755T>A (p.Leu919Met)
c.77-1624T>A (n.77-1624T>A)
16g.51139177G>ACA495780050SALL1c.3045C>T (p.Ala1015=)
c.2754C>T (p.Ala918=)
c.77-1625C>T (n.77-1625C>T)
16g.51139177G>CCA495780049SALL1c.3045C>G (p.Ala1015=)
c.2754C>G (p.Ala918=)
c.77-1625C>G (n.77-1625C>G)
16g.51139177G>TCA495780048SALL1c.3045C>A (p.Ala1015=)
c.2754C>A (p.Ala918=)
c.77-1625C>A (n.77-1625C>A)
16g.51139178G>ACA395882227SALL1c.3044C>T (p.Ala1015Val)
c.2753C>T (p.Ala918Val)
c.77-1626C>T (n.77-1626C>T)
16g.51139178G>CCA395882229SALL1c.3044C>G (p.Ala1015Gly)
c.2753C>G (p.Ala918Gly)
c.77-1626C>G (n.77-1626C>G)
16g.51139178G>TCA395882230SALL1c.3044C>A (p.Ala1015Asp)
c.2753C>A (p.Ala918Asp)
c.77-1626C>A (n.77-1626C>A)
16g.51139179C>ACA395882234SALL1c.3043G>T (p.Ala1015Ser)
c.2752G>T (p.Ala918Ser)
c.77-1627G>T (n.77-1627G>T)
16g.51139179C>GCA395882237SALL1c.3043G>C (p.Ala1015Pro)
c.2752G>C (p.Ala918Pro)
c.77-1627G>C (n.77-1627G>C)
16g.51139179C>TCA395882240SALL1c.3043G>A (p.Ala1015Thr)
c.2752G>A (p.Ala918Thr)
c.77-1627G>A (n.77-1627G>A)
16g.51139180A>CCA395882243SALL1c.3042T>G (p.Ser1014Arg)
c.2751T>G (p.Ser917Arg)
c.77-1628T>G (n.77-1628T>G)
16g.51139180A>GCA495780051SALL1c.3042T>C (p.Ser1014=)
c.2751T>C (p.Ser917=)
c.77-1628T>C (n.77-1628T>C)
16g.51139180A>TCA395882246SALL1c.3042T>A (p.Ser1014Arg)
c.2751T>A (p.Ser917Arg)
c.77-1628T>A (n.77-1628T>A)
16g.51139181C>ACA395882251SALL1c.3041G>T (p.Ser1014Ile)
c.2750G>T (p.Ser917Ile)
c.77-1629G>T (n.77-1629G>T)
16g.51139181C>GCA395882252SALL1c.3041G>C (p.Ser1014Thr)
c.2750G>C (p.Ser917Thr)
c.77-1629G>C (n.77-1629G>C)
16g.51139181C>TCA395882256SALL1c.3041G>A (p.Ser1014Asn)
c.2750G>A (p.Ser917Asn)
c.77-1629G>A (n.77-1629G>A)
16g.51139182T>ACA395882268SALL1c.3040A>T (p.Ser1014Cys)
c.2749A>T (p.Ser917Cys)
c.77-1630A>T (n.77-1630A>T)
16g.51139182T>CCA395882265SALL1c.3040A>G (p.Ser1014Gly)
c.2749A>G (p.Ser917Gly)
c.77-1630A>G (n.77-1630A>G)
16g.51139182T>GCA395882261SALL1c.3040A>C (p.Ser1014Arg)
c.2749A>C (p.Ser917Arg)
c.77-1630A>C (n.77-1630A>C)
16g.51139183C>ACA395882272SALL1c.3039G>T (p.Gln1013His)
c.2748G>T (p.Gln916His)
c.77-1631G>T (n.77-1631G>T)
16g.51139183C>GCA395882275SALL1c.3039G>C (p.Gln1013His)
c.2748G>C (p.Gln916His)
c.77-1631G>C (n.77-1631G>C)
16g.51139183C>TCA495780052SALL1c.3039G>A (p.Gln1013=)
c.2748G>A (p.Gln916=)
c.77-1631G>A (n.77-1631G>A)
16g.51139184T>ACA395882279SALL1c.3038A>T (p.Gln1013Leu)
c.2747A>T (p.Gln916Leu)
c.77-1632A>T (n.77-1632A>T)
16g.51139184T>CCA395882281SALL1c.3038A>G (p.Gln1013Arg)
c.2747A>G (p.Gln916Arg)
c.77-1632A>G (n.77-1632A>G)
16g.51139184T>GCA395882284SALL1c.3038A>C (p.Gln1013Pro)
c.2747A>C (p.Gln916Pro)
c.77-1632A>C (n.77-1632A>C)
16g.51139185G>ACA395882286SALL1c.3037C>T (p.Gln1013Ter)
c.2746C>T (p.Gln916Ter)
c.77-1633C>T (n.77-1633C>T)
 gnomAD v4
16g.51139185G>CCA395882290SALL1c.3037C>G (p.Gln1013Glu)
c.2746C>G (p.Gln916Glu)
c.77-1633C>G (n.77-1633C>G)
16g.51139185G>TCA395882298SALL1c.3037C>A (p.Gln1013Lys)
c.2746C>A (p.Gln916Lys)
c.77-1633C>A (n.77-1633C>A)
16g.51139186A>CCA395882301SALL1c.3036T>G (p.Cys1012Trp)
c.2745T>G (p.Cys915Trp)
c.77-1634T>G (n.77-1634T>G)
16g.51139186A>GCA495780053SALL1c.3036T>C (p.Cys1012=)
c.2745T>C (p.Cys915=)
c.77-1634T>C (n.77-1634T>C)
16g.51139186A>TCA395882304SALL1c.3036T>A (p.Cys1012Ter)
c.2745T>A (p.Cys915Ter)
c.77-1634T>A (n.77-1634T>A)
16g.51139187C>ACA395882324SALL1c.3035G>T (p.Cys1012Phe)
c.2744G>T (p.Cys915Phe)
c.77-1635G>T (n.77-1635G>T)
16g.51139187C>GCA395882329SALL1c.3035G>C (p.Cys1012Ser)
c.2744G>C (p.Cys915Ser)
c.77-1635G>C (n.77-1635G>C)
16g.51139187C>TCA395882341SALL1c.3035G>A (p.Cys1012Tyr)
c.2744G>A (p.Cys915Tyr)
c.77-1635G>A (n.77-1635G>A)
16g.51139188A>CCA395882348SALL1c.3034T>G (p.Cys1012Gly)
c.2743T>G (p.Cys915Gly)
c.77-1636T>G (n.77-1636T>G)
16g.51139188A>GCA395882351SALL1c.3034T>C (p.Cys1012Arg)
c.2743T>C (p.Cys915Arg)
c.77-1636T>C (n.77-1636T>C)
16g.51139188A>TCA395882345SALL1c.3034T>A (p.Cys1012Ser)
c.2743T>A (p.Cys915Ser)
c.77-1636T>A (n.77-1636T>A)
16g.51139189delCA2695223343SALL1c.3034del (p.Cys1012ValfsTer?)
c.2743del (p.Cys915ValfsTer?)
c.77-1636del (n.77-1636del)
16g.51139189A>CCA495780054SALL1c.3033T>G (p.Ala1011=)
c.2742T>G (p.Ala914=)
c.77-1637T>G (n.77-1637T>G)
16g.51139189A>GCA495780055SALL1c.3033T>C (p.Ala1011=)
c.2742T>C (p.Ala914=)
c.77-1637T>C (n.77-1637T>C)
16g.51139189A>TCA495780056SALL1c.3033T>A (p.Ala1011=)
c.2742T>A (p.Ala914=)
c.77-1637T>A (n.77-1637T>A)
16g.51139190G>ACA395882353SALL1c.3032C>T (p.Ala1011Val)
c.2741C>T (p.Ala914Val)
c.77-1638C>T (n.77-1638C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139190G>CCA395882356SALL1c.3032C>G (p.Ala1011Gly)
c.2741C>G (p.Ala914Gly)
c.77-1638C>G (n.77-1638C>G)
16g.51139190G=CA2222017522SALL1c.3032C= (p.Ala1011=)
c.2741C= (p.Ala914=)
c.77-1638C= (n.77-1638C=)
16g.51139190G>TCA395882359SALL1c.3032C>A (p.Ala1011Asp)
c.2741C>A (p.Ala914Asp)
c.77-1638C>A (n.77-1638C>A)
16g.51139190_51139203dupCA2695223344SALL1c.3019_3032dup (p.Cys1012AlafsTer?)
c.2728_2741dup (p.Cys915AlafsTer?)
c.77-1651_77-1638dup (n.77-1651_77-1638dup)
16g.51139191C>ACA395882363SALL1c.3031G>T (p.Ala1011Ser)
c.2740G>T (p.Ala914Ser)
c.77-1639G>T (n.77-1639G>T)
16g.51139191C>GCA395882370SALL1c.3031G>C (p.Ala1011Pro)
c.2740G>C (p.Ala914Pro)
c.77-1639G>C (n.77-1639G>C)
16g.51139191C>TCA395882374SALL1c.3031G>A (p.Ala1011Thr)
c.2740G>A (p.Ala914Thr)
c.77-1639G>A (n.77-1639G>A)
16g.51139192A>CCA395882378SALL1c.3030T>G (p.Phe1010Leu)
c.2739T>G (p.Phe913Leu)
c.77-1640T>G (n.77-1640T>G)
16g.51139192A>GCA495780057SALL1c.3030T>C (p.Phe1010=)
c.2739T>C (p.Phe913=)
c.77-1640T>C (n.77-1640T>C)
16g.51139192A>TCA395882387SALL1c.3030T>A (p.Phe1010Leu)
c.2739T>A (p.Phe913Leu)
c.77-1640T>A (n.77-1640T>A)
16g.51139193A>CCA395882390SALL1c.3029T>G (p.Phe1010Cys)
c.2738T>G (p.Phe913Cys)
c.77-1641T>G (n.77-1641T>G)
16g.51139193A>GCA395882393SALL1c.3029T>C (p.Phe1010Ser)
c.2738T>C (p.Phe913Ser)
c.77-1641T>C (n.77-1641T>C)
16g.51139193A>TCA395882394SALL1c.3029T>A (p.Phe1010Tyr)
c.2738T>A (p.Phe913Tyr)
c.77-1641T>A (n.77-1641T>A)
16g.51139194A>CCA395882415SALL1c.3028T>G (p.Phe1010Val)
c.2737T>G (p.Phe913Val)
c.77-1642T>G (n.77-1642T>G)
16g.51139194A>GCA395882412SALL1c.3028T>C (p.Phe1010Leu)
c.2737T>C (p.Phe913Leu)
c.77-1642T>C (n.77-1642T>C)
16g.51139194A>TCA395882398SALL1c.3028T>A (p.Phe1010Ile)
c.2737T>A (p.Phe913Ile)
c.77-1642T>A (n.77-1642T>A)
16g.51139195T>ACA495780059SALL1c.3027A>T (p.Thr1009=)
c.2736A>T (p.Thr912=)
c.77-1643A>T (n.77-1643A>T)
16g.51139195T>CCA495780060SALL1c.3027A>G (p.Thr1009=)
c.2736A>G (p.Thr912=)
c.77-1643A>G (n.77-1643A>G)
16g.51139195T>GCA495780058SALL1c.3027A>C (p.Thr1009=)
c.2736A>C (p.Thr912=)
c.77-1643A>C (n.77-1643A>C)
 dbSNP gnomAD v3 gnomAD v4
16g.51139195T=CA2222017524SALL1c.3027A= (p.Thr1009=)
c.2736A= (p.Thr912=)
c.77-1643A= (n.77-1643A=)
16g.51139196G>ACA395882419SALL1c.3026C>T (p.Thr1009Ile)
c.2735C>T (p.Thr912Ile)
c.77-1644C>T (n.77-1644C>T)
 gnomAD v4
16g.51139196G>CCA395882421SALL1c.3026C>G (p.Thr1009Arg)
c.2735C>G (p.Thr912Arg)
c.77-1644C>G (n.77-1644C>G)
16g.51139196G>TCA395882428SALL1c.3026C>A (p.Thr1009Lys)
c.2735C>A (p.Thr912Lys)
c.77-1644C>A (n.77-1644C>A)
16g.51139197T>ACA395882432SALL1c.3025A>T (p.Thr1009Ser)
c.2734A>T (p.Thr912Ser)
c.77-1645A>T (n.77-1645A>T)
16g.51139197T>CCA8052992SALL1c.3025A>G (p.Thr1009Ala)
c.2734A>G (p.Thr912Ala)
c.77-1645A>G (n.77-1645A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139197T>GCA395882436SALL1c.3025A>C (p.Thr1009Pro)
c.2734A>C (p.Thr912Pro)
c.77-1645A>C (n.77-1645A>C)
16g.51139197T=CA2222017530SALL1c.3025A= (p.Thr1009=)
c.2734A= (p.Thr912=)
c.77-1645A= (n.77-1645A=)
16g.51139198T>ACA395882441SALL1c.3024A>T (p.Lys1008Asn)
c.2733A>T (p.Lys911Asn)
c.77-1646A>T (n.77-1646A>T)
16g.51139198T>CCA495780098SALL1c.3024A>G (p.Lys1008=)
c.2733A>G (p.Lys911=)
c.77-1646A>G (n.77-1646A>G)
16g.51139198T>GCA395882443SALL1c.3024A>C (p.Lys1008Asn)
c.2733A>C (p.Lys911Asn)
c.77-1646A>C (n.77-1646A>C)
16g.51139199T>ACA395882446SALL1c.3023A>T (p.Lys1008Ile)
c.2732A>T (p.Lys911Ile)
c.77-1647A>T (n.77-1647A>T)
16g.51139199T>CCA395882450SALL1c.3023A>G (p.Lys1008Arg)
c.2732A>G (p.Lys911Arg)
c.77-1647A>G (n.77-1647A>G)
16g.51139199T>GCA395882453SALL1c.3023A>C (p.Lys1008Thr)
c.2732A>C (p.Lys911Thr)
c.77-1647A>C (n.77-1647A>C)
16g.51139200T>ACA395882457SALL1c.3022A>T (p.Lys1008Ter)
c.2731A>T (p.Lys911Ter)
c.77-1648A>T (n.77-1648A>T)
16g.51139200T>CCA395882456SALL1c.3022A>G (p.Lys1008Glu)
c.2731A>G (p.Lys911Glu)
c.77-1648A>G (n.77-1648A>G)
16g.51139200T>GCA395882455SALL1c.3022A>C (p.Lys1008Gln)
c.2731A>C (p.Lys911Gln)
c.77-1648A>C (n.77-1648A>C)
16g.51139201G>ACA495780100SALL1c.3021C>T (p.Gly1007=)
c.2730C>T (p.Gly910=)
c.77-1649C>T (n.77-1649C>T)
16g.51139201G>CCA8052993SALL1c.3021C>G (p.Gly1007=)
c.2730C>G (p.Gly910=)
c.77-1649C>G (n.77-1649C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139201G=CA2222017539SALL1c.3021C= (p.Gly1007=)
c.2730C= (p.Gly910=)
c.77-1649C= (n.77-1649C=)
16g.51139201G>TCA495780102SALL1c.3021C>A (p.Gly1007=)
c.2730C>A (p.Gly910=)
c.77-1649C>A (n.77-1649C>A)
16g.51139202C>ACA395882475SALL1c.3020G>T (p.Gly1007Val)
c.2729G>T (p.Gly910Val)
c.77-1650G>T (n.77-1650G>T)
16g.51139202C=CA2222017548SALL1c.3020G= (p.Gly1007=)
c.2729G= (p.Gly910=)
c.77-1650G= (n.77-1650G=)
16g.51139202C>GCA395882471SALL1c.3020G>C (p.Gly1007Ala)
c.2729G>C (p.Gly910Ala)
c.77-1650G>C (n.77-1650G>C)
16g.51139202C>TCA8052994SALL1c.3020G>A (p.Gly1007Asp)
c.2729G>A (p.Gly910Asp)
c.77-1650G>A (n.77-1650G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139203C>ACA395882479SALL1c.3019G>T (p.Gly1007Cys)
c.2728G>T (p.Gly910Cys)
c.77-1651G>T (n.77-1651G>T)
 gnomAD v4
16g.51139203C=CA2222017555SALL1c.3019G= (p.Gly1007=)
c.2728G= (p.Gly910=)
c.77-1651G= (n.77-1651G=)
16g.51139203C>GCA395882484SALL1c.3019G>C (p.Gly1007Arg)
c.2728G>C (p.Gly910Arg)
c.77-1651G>C (n.77-1651G>C)
16g.51139203C>TCA395882490SALL1c.3019G>A (p.Gly1007Ser)
c.2728G>A (p.Gly910Ser)
c.77-1651G>A (n.77-1651G>A)
 dbSNP gnomAD v4 COSMIC
16g.51139204A>CCA395882494SALL1c.3018T>G (p.Cys1006Trp)
c.2727T>G (p.Cys909Trp)
c.77-1652T>G (n.77-1652T>G)
16g.51139204A>GCA495780104SALL1c.3018T>C (p.Cys1006=)
c.2727T>C (p.Cys909=)
c.77-1652T>C (n.77-1652T>C)
16g.51139204A>TCA395882495SALL1c.3018T>A (p.Cys1006Ter)
c.2727T>A (p.Cys909Ter)
c.77-1652T>A (n.77-1652T>A)
16g.51139205C>ACA395882499SALL1c.3017G>T (p.Cys1006Phe)
c.2726G>T (p.Cys909Phe)
c.77-1653G>T (n.77-1653G>T)
16g.51139205C>GCA395882507SALL1c.3017G>C (p.Cys1006Ser)
c.2726G>C (p.Cys909Ser)
c.77-1653G>C (n.77-1653G>C)
16g.51139205C>TCA395882502SALL1c.3017G>A (p.Cys1006Tyr)
c.2726G>A (p.Cys909Tyr)
c.77-1653G>A (n.77-1653G>A)
 gnomAD v4
16g.51139206A>CCA395882512SALL1c.3016T>G (p.Cys1006Gly)
c.2725T>G (p.Cys909Gly)
c.77-1654T>G (n.77-1654T>G)
16g.51139206A>GCA395882514SALL1c.3016T>C (p.Cys1006Arg)
c.2725T>C (p.Cys909Arg)
c.77-1654T>C (n.77-1654T>C)
16g.51139206A>TCA395882521SALL1c.3016T>A (p.Cys1006Ser)
c.2725T>A (p.Cys909Ser)
c.77-1654T>A (n.77-1654T>A)
16g.51139207A>CCA395882524SALL1c.3015T>G (p.Ile1005Met)
c.2724T>G (p.Ile908Met)
c.77-1655T>G (n.77-1655T>G)
 COSMIC
16g.51139207A>GCA495780106SALL1c.3015T>C (p.Ile1005=)
c.2724T>C (p.Ile908=)
c.77-1655T>C (n.77-1655T>C)
16g.51139207A>TCA495780107SALL1c.3015T>A (p.Ile1005=)
c.2724T>A (p.Ile908=)
c.77-1655T>A (n.77-1655T>A)
16g.51139208A>CCA395882529SALL1c.3014T>G (p.Ile1005Ser)
c.2723T>G (p.Ile908Ser)
c.77-1656T>G (n.77-1656T>G)
16g.51139208A>GCA395882535SALL1c.3014T>C (p.Ile1005Thr)
c.2723T>C (p.Ile908Thr)
c.77-1656T>C (n.77-1656T>C)
16g.51139208A>TCA395882533SALL1c.3014T>A (p.Ile1005Asn)
c.2723T>A (p.Ile908Asn)
c.77-1656T>A (n.77-1656T>A)
 COSMIC
16g.51139209T>ACA395882542SALL1c.3013A>T (p.Ile1005Phe)
c.2722A>T (p.Ile908Phe)
c.77-1657A>T (n.77-1657A>T)
16g.51139209T>CCA395882544SALL1c.3013A>G (p.Ile1005Val)
c.2722A>G (p.Ile908Val)
c.77-1657A>G (n.77-1657A>G)
16g.51139209T>GCA395882547SALL1c.3013A>C (p.Ile1005Leu)
c.2722A>C (p.Ile908Leu)
c.77-1657A>C (n.77-1657A>C)
16g.51139210G>ACA495780108SALL1c.3012C>T (p.Asp1004=)
c.2721C>T (p.Asp907=)
c.77-1658C>T (n.77-1658C>T)
 gnomAD v4
16g.51139210G>CCA395882552SALL1c.3012C>G (p.Asp1004Glu)
c.2721C>G (p.Asp907Glu)
c.77-1658C>G (n.77-1658C>G)
16g.51139210G>TCA395882553SALL1c.3012C>A (p.Asp1004Glu)
c.2721C>A (p.Asp907Glu)
c.77-1658C>A (n.77-1658C>A)
16g.51139211T>ACA395882554SALL1c.3011A>T (p.Asp1004Val)
c.2720A>T (p.Asp907Val)
c.77-1659A>T (n.77-1659A>T)
16g.51139211T>CCA395882558SALL1c.3011A>G (p.Asp1004Gly)
c.2720A>G (p.Asp907Gly)
c.77-1659A>G (n.77-1659A>G)
16g.51139211T>GCA395882563SALL1c.3011A>C (p.Asp1004Ala)
c.2720A>C (p.Asp907Ala)
c.77-1659A>C (n.77-1659A>C)
16g.51139212C>ACA395882565SALL1c.3010G>T (p.Asp1004Tyr)
c.2719G>T (p.Asp907Tyr)
c.77-1660G>T (n.77-1660G>T)
16g.51139212C>GCA395882567SALL1c.3010G>C (p.Asp1004His)
c.2719G>C (p.Asp907His)
c.77-1660G>C (n.77-1660G>C)
 gnomAD v4
16g.51139212C>TCA395882568SALL1c.3010G>A (p.Asp1004Asn)
c.2719G>A (p.Asp907Asn)
c.77-1660G>A (n.77-1660G>A)
 COSMIC
16g.51139213A>CCA395882570SALL1c.3009T>G (p.Cys1003Trp)
c.2718T>G (p.Cys906Trp)
c.77-1661T>G (n.77-1661T>G)
16g.51139213A>GCA495780110SALL1c.3009T>C (p.Cys1003=)
c.2718T>C (p.Cys906=)
c.77-1661T>C (n.77-1661T>C)
16g.51139213A>TCA395882569SALL1c.3009T>A (p.Cys1003Ter)
c.2718T>A (p.Cys906Ter)
c.77-1661T>A (n.77-1661T>A)
16g.51139213_51139216delCA2695223345SALL1c.3006_3009del (p.Cys1003ThrfsTer?)
c.2715_2718del (p.Cys906ThrfsTer?)
c.77-1664_77-1661del (n.77-1664_77-1661del)
16g.51139213_51139217delinsACAAGCA2222017563SALL1c.3005_3009delinsCTTGT (p.Ala1002=)
c.2714_2718delinsCTTGT (p.Ala905=)
c.77-1665_77-1661delinsCTTGT (n.77-1665_77-1661delinsCTTGT)
16g.51139214C>ACA395882573SALL1c.3008G>T (p.Cys1003Phe)
c.2717G>T (p.Cys906Phe)
c.77-1662G>T (n.77-1662G>T)
16g.51139214C>GCA395882574SALL1c.3008G>C (p.Cys1003Ser)
c.2717G>C (p.Cys906Ser)
c.77-1662G>C (n.77-1662G>C)
16g.51139214C>TCA395882577SALL1c.3008G>A (p.Cys1003Tyr)
c.2717G>A (p.Cys906Tyr)
c.77-1662G>A (n.77-1662G>A)
16g.51139216_51139219delCA915949258SALL1c.3005_3008del (p.Ala1002ValfsTer?)
c.2714_2717del (p.Ala905ValfsTer?)
c.77-1665_77-1662del (n.77-1665_77-1662del)
 ClinVar dbSNP
16g.51139215A=CA2222017566SALL1c.3007T= (p.Cys1003=)
c.2716T= (p.Cys906=)
c.77-1663T= (n.77-1663T=)
16g.51139215A>CCA395882579SALL1c.3007T>G (p.Cys1003Gly)
c.2716T>G (p.Cys906Gly)
c.77-1663T>G (n.77-1663T>G)
16g.51139215A>GCA395882583SALL1c.3007T>C (p.Cys1003Arg)
c.2716T>C (p.Cys906Arg)
c.77-1663T>C (n.77-1663T>C)
 dbSNP gnomAD v2 gnomAD v4
16g.51139215A>TCA395882598SALL1c.3007T>A (p.Cys1003Ser)
c.2716T>A (p.Cys906Ser)
c.77-1663T>A (n.77-1663T>A)
16g.51139216A>CCA495780112SALL1c.3006T>G (p.Ala1002=)
c.2715T>G (p.Ala905=)
c.77-1664T>G (n.77-1664T>G)
16g.51139216A>GCA495780113SALL1c.3006T>C (p.Ala1002=)
c.2715T>C (p.Ala905=)
c.77-1664T>C (n.77-1664T>C)
16g.51139216A>TCA495780114SALL1c.3006T>A (p.Ala1002=)
c.2715T>A (p.Ala905=)
c.77-1664T>A (n.77-1664T>A)
16g.51139217G>ACA395882605SALL1c.3005C>T (p.Ala1002Val)
c.2714C>T (p.Ala905Val)
c.77-1665C>T (n.77-1665C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.51139217G>CCA395882614SALL1c.3005C>G (p.Ala1002Gly)
c.2714C>G (p.Ala905Gly)
c.77-1665C>G (n.77-1665C>G)
16g.51139217G=CA2222017569SALL1c.3005C= (p.Ala1002=)
c.2714C= (p.Ala905=)
c.77-1665C= (n.77-1665C=)
16g.51139217G>TCA395882617SALL1c.3005C>A (p.Ala1002Asp)
c.2714C>A (p.Ala905Asp)
c.77-1665C>A (n.77-1665C>A)
16g.51139218C>ACA395882621SALL1c.3004G>T (p.Ala1002Ser)
c.2713G>T (p.Ala905Ser)
c.77-1666G>T (n.77-1666G>T)
16g.51139218C=CA2222017572SALL1c.3004G= (p.Ala1002=)
c.2713G= (p.Ala905=)
c.77-1666G= (n.77-1666G=)
16g.51139218C>GCA395882624SALL1c.3004G>C (p.Ala1002Pro)
c.2713G>C (p.Ala905Pro)
c.77-1666G>C (n.77-1666G>C)
16g.51139218C>TCA395882627SALL1c.3004G>A (p.Ala1002Thr)
c.2713G>A (p.Ala905Thr)
c.77-1666G>A (n.77-1666G>A)
 dbSNP gnomAD v4
16g.51139219A=CA2222017575SALL1c.3003T= (p.Thr1001=)
c.2712T= (p.Thr904=)
c.77-1667T= (n.77-1667T=)
16g.51139219A>CCA495780115SALL1c.3003T>G (p.Thr1001=)
c.2712T>G (p.Thr904=)
c.77-1667T>G (n.77-1667T>G)
16g.51139219A>GCA8052995SALL1c.3003T>C (p.Thr1001=)
c.2712T>C (p.Thr904=)
c.77-1667T>C (n.77-1667T>C)
 dbSNP ExAC gnomAD v2
16g.51139219A>TCA495780116SALL1c.3003T>A (p.Thr1001=)
c.2712T>A (p.Thr904=)
c.77-1667T>A (n.77-1667T>A)
16g.51139220G>ACA395882635SALL1c.3002C>T (p.Thr1001Ile)
c.2711C>T (p.Thr904Ile)
c.77-1668C>T (n.77-1668C>T)
16g.51139220G>CCA395882632SALL1c.3002C>G (p.Thr1001Ser)
c.2711C>G (p.Thr904Ser)
c.77-1668C>G (n.77-1668C>G)
16g.51139220G>TCA395882631SALL1c.3002C>A (p.Thr1001Asn)
c.2711C>A (p.Thr904Asn)
c.77-1668C>A (n.77-1668C>A)
16g.51139221T>ACA395882650SALL1c.3001A>T (p.Thr1001Ser)
c.2710A>T (p.Thr904Ser)
c.77-1669A>T (n.77-1669A>T)
16g.51139221T>CCA395882654SALL1c.3001A>G (p.Thr1001Ala)
c.2710A>G (p.Thr904Ala)
c.77-1669A>G (n.77-1669A>G)
16g.51139221T>GCA395882655SALL1c.3001A>C (p.Thr1001Pro)
c.2710A>C (p.Thr904Pro)
c.77-1669A>C (n.77-1669A>C)
 gnomAD v4
16g.51139222G>ACA495780119SALL1c.3000C>T (p.Asn1000=)
c.2709C>T (p.Asn903=)
c.77-1670C>T (n.77-1670C>T)
 gnomAD v4
16g.51139222G>CCA395882658SALL1c.3000C>G (p.Asn1000Lys)
c.2709C>G (p.Asn903Lys)
c.77-1670C>G (n.77-1670C>G)
 ClinVar
16g.51139222G>TCA395882660SALL1c.3000C>A (p.Asn1000Lys)
c.2709C>A (p.Asn903Lys)
c.77-1670C>A (n.77-1670C>A)
 dbSNP
16g.51139223T>ACA395882664SALL1c.2999A>T (p.Asn1000Ile)
c.2708A>T (p.Asn903Ile)
c.77-1671A>T (n.77-1671A>T)
16g.51139223T>CCA395882667SALL1c.2999A>G (p.Asn1000Ser)
c.2708A>G (p.Asn903Ser)
c.77-1671A>G (n.77-1671A>G)
16g.51139223T>GCA395882671SALL1c.2999A>C (p.Asn1000Thr)
c.2708A>C (p.Asn903Thr)
c.77-1671A>C (n.77-1671A>C)
16g.51139227dupCA2633181092SALL1c.2999dup (p.Asn1000LysfsTer5)
c.2708dup (p.Asn903LysfsTer5)
c.77-1671dup (n.77-1671dup)
 gnomAD v4
16g.51139227delCA2695223346SALL1c.2999del (p.Asn1000ThrfsTer?)
c.2708del (p.Asn903ThrfsTer?)
c.77-1671del (n.77-1671del)
16g.51139224T>ACA395882674SALL1c.2998A>T (p.Asn1000Tyr)
c.2707A>T (p.Asn903Tyr)
c.77-1672A>T (n.77-1672A>T)
16g.51139224T>CCA395882675SALL1c.2998A>G (p.Asn1000Asp)
c.2707A>G (p.Asn903Asp)
c.77-1672A>G (n.77-1672A>G)
16g.51139224T>GCA395882676SALL1c.2998A>C (p.Asn1000His)
c.2707A>C (p.Asn903His)
c.77-1672A>C (n.77-1672A>C)
16g.51139225T>ACA395882680SALL1c.2997A>T (p.Lys999Asn)
c.2706A>T (p.Lys902Asn)
c.77-1673A>T (n.77-1673A>T)
16g.51139225T>CCA495780121SALL1c.2997A>G (p.Lys999=)
c.2706A>G (p.Lys902=)
c.77-1673A>G (n.77-1673A>G)
16g.51139225T>GCA395882682SALL1c.2997A>C (p.Lys999Asn)
c.2706A>C (p.Lys902Asn)
c.77-1673A>C (n.77-1673A>C)
16g.51139226T>ACA395882689SALL1c.2996A>T (p.Lys999Ile)
c.2705A>T (p.Lys902Ile)
c.77-1674A>T (n.77-1674A>T)
16g.51139226T>CCA395882694SALL1c.2996A>G (p.Lys999Arg)
c.2705A>G (p.Lys902Arg)
c.77-1674A>G (n.77-1674A>G)
16g.51139226T>GCA395882686SALL1c.2996A>C (p.Lys999Thr)
c.2705A>C (p.Lys902Thr)
c.77-1674A>C (n.77-1674A>C)
16g.51139227T>ACA395882697SALL1c.2995A>T (p.Lys999Ter)
c.2704A>T (p.Lys902Ter)
c.77-1675A>T (n.77-1675A>T)
16g.51139227T>CCA395882703SALL1c.2995A>G (p.Lys999Glu)
c.2704A>G (p.Lys902Glu)
c.77-1675A>G (n.77-1675A>G)
 dbSNP
16g.51139227T>GCA395882700SALL1c.2995A>C (p.Lys999Gln)
c.2704A>C (p.Lys902Gln)
c.77-1675A>C (n.77-1675A>C)
16g.51139228A>CCA395882705SALL1c.2994T>G (p.Phe998Leu)
c.2703T>G (p.Phe901Leu)
c.77-1676T>G (n.77-1676T>G)
16g.51139228A>GCA495780123SALL1c.2994T>C (p.Phe998=)
c.2703T>C (p.Phe901=)
c.77-1676T>C (n.77-1676T>C)
16g.51139228A>TCA395882708SALL1c.2994T>A (p.Phe998Leu)
c.2703T>A (p.Phe901Leu)
c.77-1676T>A (n.77-1676T>A)
16g.51139229A>CCA395882712SALL1c.2993T>G (p.Phe998Cys)
c.2702T>G (p.Phe901Cys)
c.77-1677T>G (n.77-1677T>G)
16g.51139229A>GCA395882716SALL1c.2993T>C (p.Phe998Ser)
c.2702T>C (p.Phe901Ser)
c.77-1677T>C (n.77-1677T>C)
16g.51139229A>TCA395882718SALL1c.2993T>A (p.Phe998Tyr)
c.2702T>A (p.Phe901Tyr)
c.77-1677T>A (n.77-1677T>A)
16g.51139230A>CCA395882724SALL1c.2992T>G (p.Phe998Val)
c.2701T>G (p.Phe901Val)
c.77-1678T>G (n.77-1678T>G)
16g.51139230A>GCA395882725SALL1c.2992T>C (p.Phe998Leu)
c.2701T>C (p.Phe901Leu)
c.77-1678T>C (n.77-1678T>C)
 gnomAD v4
16g.51139230A>TCA395882727SALL1c.2992T>A (p.Phe998Ile)
c.2701T>A (p.Phe901Ile)
c.77-1678T>A (n.77-1678T>A)
16g.51139231T>ACA395882731SALL1c.2991A>T (p.Lys997Asn)
c.2700A>T (p.Lys900Asn)
c.77-1679A>T (n.77-1679A>T)
16g.51139231T>CCA495780126SALL1c.2991A>G (p.Lys997=)
c.2700A>G (p.Lys900=)
c.77-1679A>G (n.77-1679A>G)
16g.51139231T>GCA395882738SALL1c.2991A>C (p.Lys997Asn)
c.2700A>C (p.Lys900Asn)
c.77-1679A>C (n.77-1679A>C)
16g.51139232T>ACA395882740SALL1c.2990A>T (p.Lys997Ile)
c.2699A>T (p.Lys900Ile)
c.77-1680A>T (n.77-1680A>T)
16g.51139232T>CCA395882742SALL1c.2990A>G (p.Lys997Arg)
c.2699A>G (p.Lys900Arg)
c.77-1680A>G (n.77-1680A>G)
16g.51139232T>GCA395882745SALL1c.2990A>C (p.Lys997Thr)
c.2699A>C (p.Lys900Thr)
c.77-1680A>C (n.77-1680A>C)
16g.51139233T>ACA395882749SALL1c.2989A>T (p.Lys997Ter)
c.2698A>T (p.Lys900Ter)
c.77-1681A>T (n.77-1681A>T)
16g.51139233T>CCA395882753SALL1c.2989A>G (p.Lys997Glu)
c.2698A>G (p.Lys900Glu)
c.77-1681A>G (n.77-1681A>G)
16g.51139233T>GCA395882752SALL1c.2989A>C (p.Lys997Gln)
c.2698A>C (p.Lys900Gln)
c.77-1681A>C (n.77-1681A>C)
16g.51139234A>CCA495780129SALL1c.2988T>G (p.Gly996=)
c.2697T>G (p.Gly899=)
c.77-1682T>G (n.77-1682T>G)
16g.51139234A>GCA495780131SALL1c.2988T>C (p.Gly996=)
c.2697T>C (p.Gly899=)
c.77-1682T>C (n.77-1682T>C)
16g.51139234A>TCA495780132SALL1c.2988T>A (p.Gly996=)
c.2697T>A (p.Gly899=)
c.77-1682T>A (n.77-1682T>A)
16g.51139235C>ACA395882756SALL1c.2987G>T (p.Gly996Val)
c.2696G>T (p.Gly899Val)
c.77-1683G>T (n.77-1683G>T)
16g.51139235C=CA2222017579SALL1c.2987G= (p.Gly996=)
c.2696G= (p.Gly899=)
c.77-1683G= (n.77-1683G=)
16g.51139235C>GCA395882759SALL1c.2987G>C (p.Gly996Ala)
c.2696G>C (p.Gly899Ala)
c.77-1683G>C (n.77-1683G>C)
16g.51139235C>TCA8052996SALL1c.2987G>A (p.Gly996Asp)
c.2696G>A (p.Gly899Asp)
c.77-1683G>A (n.77-1683G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139236C>ACA395882763SALL1c.2986G>T (p.Gly996Cys)
c.2695G>T (p.Gly899Cys)
c.77-1684G>T (n.77-1684G>T)
16g.51139236C=CA2222017584SALL1c.2986G= (p.Gly996=)
c.2695G= (p.Gly899=)
c.77-1684G= (n.77-1684G=)
16g.51139236C>GCA395882764SALL1c.2986G>C (p.Gly996Arg)
c.2695G>C (p.Gly899Arg)
c.77-1684G>C (n.77-1684G>C)
16g.51139236C>TCA395882765SALL1c.2986G>A (p.Gly996Ser)
c.2695G>A (p.Gly899Ser)
c.77-1684G>A (n.77-1684G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139237C>ACA495780133SALL1c.2985G>T (p.Arg995=)
c.2694G>T (p.Arg898=)
c.77-1685G>T (n.77-1685G>T)
16g.51139237C=CA2222017588SALL1c.2985G= (p.Arg995=)
c.2694G= (p.Arg898=)
c.77-1685G= (n.77-1685G=)
16g.51139237C>GCA495780134SALL1c.2985G>C (p.Arg995=)
c.2694G>C (p.Arg898=)
c.77-1685G>C (n.77-1685G>C)
16g.51139237C>TCA8052997SALL1c.2985G>A (p.Arg995=)
c.2694G>A (p.Arg898=)
c.77-1685G>A (n.77-1685G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139238C>ACA395882766SALL1c.2984G>T (p.Arg995Leu)
c.2693G>T (p.Arg898Leu)
c.77-1686G>T (n.77-1686G>T)
16g.51139238C=CA2222017591SALL1c.2984G= (p.Arg995=)
c.2693G= (p.Arg898=)
c.77-1686G= (n.77-1686G=)
16g.51139238C>GCA395882767SALL1c.2984G>C (p.Arg995Pro)
c.2693G>C (p.Arg898Pro)
c.77-1686G>C (n.77-1686G>C)
16g.51139238C>TCA8052998SALL1c.2984G>A (p.Arg995Gln)
c.2693G>A (p.Arg898Gln)
c.77-1686G>A (n.77-1686G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.51139239G>ACA8052999SALL1c.2983C>T (p.Arg995Trp)
c.2692C>T (p.Arg898Trp)
c.77-1687C>T (n.77-1687C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.51139239G>CCA281300889SALL1c.2983C>G (p.Arg995Gly)
c.2692C>G (p.Arg898Gly)
c.77-1687C>G (n.77-1687C>G)
 ClinVar dbSNP gnomAD v4
16g.51139239G=CA2222017596SALL1c.2983C= (p.Arg995=)
c.2692C= (p.Arg898=)
c.77-1687C= (n.77-1687C=)
16g.51139239G>TCA495780136SALL1c.2983C>A (p.Arg995=)
c.2692C>A (p.Arg898=)
c.77-1687C>A (n.77-1687C>A)
 dbSNP gnomAD v2 gnomAD v4
16g.51139240G>ACA495780137SALL1c.2982C>T (p.Asp994=)
c.2691C>T (p.Asp897=)
c.77-1688C>T (n.77-1688C>T)
16g.51139240G>CCA395882768SALL1c.2982C>G (p.Asp994Glu)
c.2691C>G (p.Asp897Glu)
c.77-1688C>G (n.77-1688C>G)
16g.51139240G>TCA395882769SALL1c.2982C>A (p.Asp994Glu)
c.2691C>A (p.Asp897Glu)
c.77-1688C>A (n.77-1688C>A)
16g.51139241T>ACA395882770SALL1c.2981A>T (p.Asp994Val)
c.2690A>T (p.Asp897Val)
c.77-1689A>T (n.77-1689A>T)
16g.51139241T>CCA395882771SALL1c.2981A>G (p.Asp994Gly)
c.2690A>G (p.Asp897Gly)
c.77-1689A>G (n.77-1689A>G)
16g.51139241T>GCA395882772SALL1c.2981A>C (p.Asp994Ala)
c.2690A>C (p.Asp897Ala)
c.77-1689A>C (n.77-1689A>C)
16g.51139242C>ACA395882773SALL1c.2980G>T (p.Asp994Tyr)
c.2689G>T (p.Asp897Tyr)
c.77-1690G>T (n.77-1690G>T)
16g.51139242C>GCA395882774SALL1c.2980G>C (p.Asp994His)
c.2689G>C (p.Asp897His)
c.77-1690G>C (n.77-1690G>C)
16g.51139242C>TCA395882775SALL1c.2980G>A (p.Asp994Asn)
c.2689G>A (p.Asp897Asn)
c.77-1690G>A (n.77-1690G>A)
 gnomAD v4
16g.51139243T>ACA395882776SALL1c.2979A>T (p.Arg993Ser)
c.2688A>T (p.Arg896Ser)
c.77-1691A>T (n.77-1691A>T)
16g.51139243T>CCA495780139SALL1c.2979A>G (p.Arg993=)
c.2688A>G (p.Arg896=)
c.77-1691A>G (n.77-1691A>G)
16g.51139243T>GCA395882777SALL1c.2979A>C (p.Arg993Ser)
c.2688A>C (p.Arg896Ser)
c.77-1691A>C (n.77-1691A>C)
 gnomAD v4
16g.51139244C>ACA395882780SALL1c.2978G>T (p.Arg993Ile)
c.2687G>T (p.Arg896Ile)
c.77-1692G>T (n.77-1692G>T)
 gnomAD v4
16g.51139244C>GCA395882781SALL1c.2978G>C (p.Arg993Thr)
c.2687G>C (p.Arg896Thr)
c.77-1692G>C (n.77-1692G>C)
16g.51139244C>TCA395882784SALL1c.2978G>A (p.Arg993Lys)
c.2687G>A (p.Arg896Lys)
c.77-1692G>A (n.77-1692G>A)
16g.51139245T>ACA395882787SALL1c.2977A>T (p.Arg993Ter)
c.2686A>T (p.Arg896Ter)
c.77-1693A>T (n.77-1693A>T)
16g.51139245T>CCA395882788SALL1c.2977A>G (p.Arg993Gly)
c.2686A>G (p.Arg896Gly)
c.77-1693A>G (n.77-1693A>G)
16g.51139245T>GCA495780140SALL1c.2977A>C (p.Arg993=)
c.2686A>C (p.Arg896=)
c.77-1693A>C (n.77-1693A>C)
16g.51139246A=CA2222017602SALL1c.2976T= (p.Phe992=)
c.2685T= (p.Phe895=)
c.77-1694T= (n.77-1694T=)
16g.51139246A>CCA395882792SALL1c.2976T>G (p.Phe992Leu)
c.2685T>G (p.Phe895Leu)
c.77-1694T>G (n.77-1694T>G)
16g.51139246A>GCA8053000SALL1c.2976T>C (p.Phe992=)
c.2685T>C (p.Phe895=)
c.77-1694T>C (n.77-1694T>C)
 dbSNP ExAC gnomAD v4
16g.51139246A>TCA395882795SALL1c.2976T>A (p.Phe992Leu)
c.2685T>A (p.Phe895Leu)
c.77-1694T>A (n.77-1694T>A)
16g.51139247A=CA2222017607SALL1c.2975T= (p.Phe992=)
c.2684T= (p.Phe895=)
c.77-1695T= (n.77-1695T=)
16g.51139247A>CCA8053001SALL1c.2975T>G (p.Phe992Cys)
c.2684T>G (p.Phe895Cys)
c.77-1695T>G (n.77-1695T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139247A>GCA395882800SALL1c.2975T>C (p.Phe992Ser)
c.2684T>C (p.Phe895Ser)
c.77-1695T>C (n.77-1695T>C)
 gnomAD v4
16g.51139247A>TCA395882803SALL1c.2975T>A (p.Phe992Tyr)
c.2684T>A (p.Phe895Tyr)
c.77-1695T>A (n.77-1695T>A)
16g.51139248A>CCA395882807SALL1c.2974T>G (p.Phe992Val)
c.2683T>G (p.Phe895Val)
c.77-1696T>G (n.77-1696T>G)
16g.51139248A>GCA395882808SALL1c.2974T>C (p.Phe992Leu)
c.2683T>C (p.Phe895Leu)
c.77-1696T>C (n.77-1696T>C)
 gnomAD v4 COSMIC
16g.51139248A>TCA395882810SALL1c.2974T>A (p.Phe992Ile)
c.2683T>A (p.Phe895Ile)
c.77-1696T>A (n.77-1696T>A)
16g.51139249A=CA2222017616SALL1c.2973T= (p.Pro991=)
c.2682T= (p.Pro894=)
c.77-1697T= (n.77-1697T=)
16g.51139249A>CCA495780144SALL1c.2973T>G (p.Pro991=)
c.2682T>G (p.Pro894=)
c.77-1697T>G (n.77-1697T>G)
16g.51139249A>GCA495780143SALL1c.2973T>C (p.Pro991=)
c.2682T>C (p.Pro894=)
c.77-1697T>C (n.77-1697T>C)
 dbSNP
16g.51139249A>TCA495780142SALL1c.2973T>A (p.Pro991=)
c.2682T>A (p.Pro894=)
c.77-1697T>A (n.77-1697T>A)
16g.51139250G>ACA395882815SALL1c.2972C>T (p.Pro991Leu)
c.2681C>T (p.Pro894Leu)
c.77-1698C>T (n.77-1698C>T)
 COSMIC
16g.51139250G>CCA395882816SALL1c.2972C>G (p.Pro991Arg)
c.2681C>G (p.Pro894Arg)
c.77-1698C>G (n.77-1698C>G)
 dbSNP
16g.51139250G=CA2222017620SALL1c.2972C= (p.Pro991=)
c.2681C= (p.Pro894=)
c.77-1698C= (n.77-1698C=)
16g.51139250G>TCA395882818SALL1c.2972C>A (p.Pro991His)
c.2681C>A (p.Pro894His)
c.77-1698C>A (n.77-1698C>A)
16g.51139251G>ACA395882824SALL1c.2971C>T (p.Pro991Ser)
c.2680C>T (p.Pro894Ser)
c.77-1699C>T (n.77-1699C>T)
 gnomAD v4
16g.51139251G>CCA395882828SALL1c.2971C>G (p.Pro991Ala)
c.2680C>G (p.Pro894Ala)
c.77-1699C>G (n.77-1699C>G)
16g.51139251G>TCA395882822SALL1c.2971C>A (p.Pro991Thr)
c.2680C>A (p.Pro894Thr)
c.77-1699C>A (n.77-1699C>A)
16g.51139252G>ACA495780146SALL1c.2970C>T (p.Phe990=)
c.2679C>T (p.Phe893=)
c.77-1700C>T (n.77-1700C>T)
16g.51139252G>CCA395882836SALL1c.2970C>G (p.Phe990Leu)
c.2679C>G (p.Phe893Leu)
c.77-1700C>G (n.77-1700C>G)
16g.51139252G>TCA395882834SALL1c.2970C>A (p.Phe990Leu)
c.2679C>A (p.Phe893Leu)
c.77-1700C>A (n.77-1700C>A)
 COSMIC
16g.51139253A=CA2222017621SALL1c.2969T= (p.Phe990=)
c.2678T= (p.Phe893=)
c.77-1701T= (n.77-1701T=)
16g.51139253A>CCA395882841SALL1c.2969T>G (p.Phe990Cys)
c.2678T>G (p.Phe893Cys)
c.77-1701T>G (n.77-1701T>G)
16g.51139253A>GCA395882842SALL1c.2969T>C (p.Phe990Ser)
c.2678T>C (p.Phe893Ser)
c.77-1701T>C (n.77-1701T>C)
16g.51139253A>TCA395882843SALL1c.2969T>A (p.Phe990Tyr)
c.2678T>A (p.Phe893Tyr)
c.77-1701T>A (n.77-1701T>A)
16g.51139254A>CCA395882845SALL1c.2968T>G (p.Phe990Val)
c.2677T>G (p.Phe893Val)
c.77-1702T>G (n.77-1702T>G)
16g.51139254A>GCA395882846SALL1c.2968T>C (p.Phe990Leu)
c.2677T>C (p.Phe893Leu)
c.77-1702T>C (n.77-1702T>C)
 ClinVar
16g.51139254A>TCA395882848SALL1c.2968T>A (p.Phe990Ile)
c.2677T>A (p.Phe893Ile)
c.77-1702T>A (n.77-1702T>A)
16g.51139256_51139257dupCA622654491SALL1c.2967_2968dup (p.Phe990SerfsTer?)
c.2676_2677dup (p.Phe893SerfsTer?)
c.77-1703_77-1702dup (n.77-1703_77-1702dup)
 dbSNP gnomAD v2 gnomAD v4
16g.51139256_51139257delCA2633181093SALL1c.2967_2968del (p.Phe990ProfsTer3)
c.2676_2677del (p.Phe893ProfsTer3)
c.77-1703_77-1702del (n.77-1703_77-1702del)
 gnomAD v4
16g.51139255G>ACA8053002SALL1c.2967C>T (p.Leu989=)
c.2676C>T (p.Leu892=)
c.77-1703C>T (n.77-1703C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139255G>CCA495780147SALL1c.2967C>G (p.Leu989=)
c.2676C>G (p.Leu892=)
c.77-1703C>G (n.77-1703C>G)
16g.51139255G=CA2222017627SALL1c.2967C= (p.Leu989=)
c.2676C= (p.Leu892=)
c.77-1703C= (n.77-1703C=)
16g.51139255G>TCA495780148SALL1c.2967C>A (p.Leu989=)
c.2676C>A (p.Leu892=)
c.77-1703C>A (n.77-1703C>A)
16g.51139256A>CCA395882854SALL1c.2966T>G (p.Leu989Arg)
c.2675T>G (p.Leu892Arg)
c.77-1704T>G (n.77-1704T>G)
16g.51139256A>GCA395882856SALL1c.2966T>C (p.Leu989Pro)
c.2675T>C (p.Leu892Pro)
c.77-1704T>C (n.77-1704T>C)
16g.51139256A>TCA395882860SALL1c.2966T>A (p.Leu989His)
c.2675T>A (p.Leu892His)
c.77-1704T>A (n.77-1704T>A)
16g.51139257G>ACA395882864SALL1c.2965C>T (p.Leu989Phe)
c.2674C>T (p.Leu892Phe)
c.77-1705C>T (n.77-1705C>T)
 COSMIC
16g.51139257G>CCA395882867SALL1c.2965C>G (p.Leu989Val)
c.2674C>G (p.Leu892Val)
c.77-1705C>G (n.77-1705C>G)
16g.51139257G>TCA395882869SALL1c.2965C>A (p.Leu989Ile)
c.2674C>A (p.Leu892Ile)
c.77-1705C>A (n.77-1705C>A)
16g.51139258G>ACA8053003SALL1c.2964C>T (p.Ile988=)
c.2673C>T (p.Ile891=)
c.77-1706C>T (n.77-1706C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.51139258G>CCA395882889SALL1c.2964C>G (p.Ile988Met)
c.2673C>G (p.Ile891Met)
c.77-1706C>G (n.77-1706C>G)
16g.51139258G=CA2222017630SALL1c.2964C= (p.Ile988=)
c.2673C= (p.Ile891=)
c.77-1706C= (n.77-1706C=)
16g.51139258G>TCA8053004SALL1c.2964C>A (p.Ile988=)
c.2673C>A (p.Ile891=)
c.77-1706C>A (n.77-1706C>A)
 dbSNP ExAC gnomAD v2
16g.51139259A>CCA395882894SALL1c.2963T>G (p.Ile988Ser)
c.2672T>G (p.Ile891Ser)
c.77-1707T>G (n.77-1707T>G)
16g.51139259A>GCA395882896SALL1c.2963T>C (p.Ile988Thr)
c.2672T>C (p.Ile891Thr)
c.77-1707T>C (n.77-1707T>C)
16g.51139259A>TCA395882898SALL1c.2963T>A (p.Ile988Asn)
c.2672T>A (p.Ile891Asn)
c.77-1707T>A (n.77-1707T>A)
 gnomAD v4
16g.51139260T>ACA8053005SALL1c.2962A>T (p.Ile988Phe)
c.2671A>T (p.Ile891Phe)
c.77-1708A>T (n.77-1708A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139260T>CCA395882903SALL1c.2962A>G (p.Ile988Val)
c.2671A>G (p.Ile891Val)
c.77-1708A>G (n.77-1708A>G)
16g.51139260T>GCA395882907SALL1c.2962A>C (p.Ile988Leu)
c.2671A>C (p.Ile891Leu)
c.77-1708A>C (n.77-1708A>C)
16g.51139260T=CA2222017636SALL1c.2962A= (p.Ile988=)
c.2671A= (p.Ile891=)
c.77-1708A= (n.77-1708A=)
16g.51139261C>ACA495780151SALL1c.2961G>T (p.Gly987=)
c.2670G>T (p.Gly890=)
c.77-1709G>T (n.77-1709G>T)
16g.51139261C>GCA495780152SALL1c.2961G>C (p.Gly987=)
c.2670G>C (p.Gly890=)
c.77-1709G>C (n.77-1709G>C)
16g.51139261C>TCA495780153SALL1c.2961G>A (p.Gly987=)
c.2670G>A (p.Gly890=)
c.77-1709G>A (n.77-1709G>A)
16g.51139262C>ACA395882909SALL1c.2960G>T (p.Gly987Val)
c.2669G>T (p.Gly890Val)
c.77-1710G>T (n.77-1710G>T)
16g.51139262C>GCA395882911SALL1c.2960G>C (p.Gly987Ala)
c.2669G>C (p.Gly890Ala)
c.77-1710G>C (n.77-1710G>C)
16g.51139262C>TCA395882913SALL1c.2960G>A (p.Gly987Glu)
c.2669G>A (p.Gly890Glu)
c.77-1710G>A (n.77-1710G>A)
16g.51139263C>ACA395882916SALL1c.2959G>T (p.Gly987Trp)
c.2668G>T (p.Gly890Trp)
c.77-1711G>T (n.77-1711G>T)
16g.51139263C>GCA395882918SALL1c.2959G>C (p.Gly987Arg)
c.2668G>C (p.Gly890Arg)
c.77-1711G>C (n.77-1711G>C)
16g.51139263C>TCA395882921SALL1c.2959G>A (p.Gly987Arg)
c.2668G>A (p.Gly890Arg)
c.77-1711G>A (n.77-1711G>A)
16g.51139264C>ACA395882924SALL1c.2958G>T (p.Leu986Phe)
c.2667G>T (p.Leu889Phe)
c.77-1712G>T (n.77-1712G>T)
 gnomAD v4
16g.51139264C>GCA395882928SALL1c.2958G>C (p.Leu986Phe)
c.2667G>C (p.Leu889Phe)
c.77-1712G>C (n.77-1712G>C)
16g.51139264C>TCA495780154SALL1c.2958G>A (p.Leu986=)
c.2667G>A (p.Leu889=)
c.77-1712G>A (n.77-1712G>A)
16g.51139265A=CA2222017647SALL1c.2957T= (p.Leu986=)
c.2666T= (p.Leu889=)
c.77-1713T= (n.77-1713T=)
16g.51139265A>CCA395882933SALL1c.2957T>G (p.Leu986Trp)
c.2666T>G (p.Leu889Trp)
c.77-1713T>G (n.77-1713T>G)
16g.51139265A>GCA8053006SALL1c.2957T>C (p.Leu986Ser)
c.2666T>C (p.Leu889Ser)
c.77-1713T>C (n.77-1713T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139265A>TCA395882931SALL1c.2957T>A (p.Leu986Ter)
c.2666T>A (p.Leu889Ter)
c.77-1713T>A (n.77-1713T>A)
16g.51139266A>CCA395882936SALL1c.2956T>G (p.Leu986Val)
c.2665T>G (p.Leu889Val)
c.77-1714T>G (n.77-1714T>G)
16g.51139266A>GCA495780156SALL1c.2956T>C (p.Leu986=)
c.2665T>C (p.Leu889=)
c.77-1714T>C (n.77-1714T>C)
16g.51139266A>TCA395882939SALL1c.2956T>A (p.Leu986Met)
c.2665T>A (p.Leu889Met)
c.77-1714T>A (n.77-1714T>A)
 gnomAD v4
16g.51139267A=CA2222017652SALL1c.2955T= (p.Ser985=)
c.2664T= (p.Ser888=)
c.77-1715T= (n.77-1715T=)
16g.51139267A>CCA281300958SALL1c.2955T>G (p.Ser985=)
c.2664T>G (p.Ser888=)
c.77-1715T>G (n.77-1715T>G)
 dbSNP gnomAD v3 gnomAD v4
16g.51139267A>GCA495780157SALL1c.2955T>C (p.Ser985=)
c.2664T>C (p.Ser888=)
c.77-1715T>C (n.77-1715T>C)
16g.51139267A>TCA495780158SALL1c.2955T>A (p.Ser985=)
c.2664T>A (p.Ser888=)
c.77-1715T>A (n.77-1715T>A)
16g.51139268G>ACA395882946SALL1c.2954C>T (p.Ser985Phe)
c.2663C>T (p.Ser888Phe)
c.77-1716C>T (n.77-1716C>T)
16g.51139268G>CCA395882948SALL1c.2954C>G (p.Ser985Cys)
c.2663C>G (p.Ser888Cys)
c.77-1716C>G (n.77-1716C>G)
 gnomAD v4
16g.51139268G>TCA395882951SALL1c.2954C>A (p.Ser985Tyr)
c.2663C>A (p.Ser888Tyr)
c.77-1716C>A (n.77-1716C>A)
16g.51139269A=CA2222017657SALL1c.2953T= (p.Ser985=)
c.2662T= (p.Ser888=)
c.77-1717T= (n.77-1717T=)
16g.51139269A>CCA8053007SALL1c.2953T>G (p.Ser985Ala)
c.2662T>G (p.Ser888Ala)
c.77-1717T>G (n.77-1717T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139269A>GCA395882956SALL1c.2953T>C (p.Ser985Pro)
c.2662T>C (p.Ser888Pro)
c.77-1717T>C (n.77-1717T>C)
16g.51139269A>TCA395882961SALL1c.2953T>A (p.Ser985Thr)
c.2662T>A (p.Ser888Thr)
c.77-1717T>A (n.77-1717T>A)
16g.51139269_51139270insCACCCAACACCA2807012903SALL1c.2952_2953insGTGTTGGGTG (p.Ser985ValfsTer12)
c.2661_2662insGTGTTGGGTG (p.Ser888ValfsTer12)
c.77-1718_77-1717insGTGTTGGGTG (n.77-1718_77-1717insGTGTTGGGTG)
16g.51139270A>CCA395882965SALL1c.2952T>G (p.Asp984Glu)
c.2661T>G (p.Asp887Glu)
c.77-1718T>G (n.77-1718T>G)
16g.51139270A>GCA495780160SALL1c.2952T>C (p.Asp984=)
c.2661T>C (p.Asp887=)
c.77-1718T>C (n.77-1718T>C)
16g.51139270A>TCA395882968SALL1c.2952T>A (p.Asp984Glu)
c.2661T>A (p.Asp887Glu)
c.77-1718T>A (n.77-1718T>A)
16g.51139271T>ACA395882971SALL1c.2951A>T (p.Asp984Val)
c.2660A>T (p.Asp887Val)
c.77-1719A>T (n.77-1719A>T)
16g.51139271T>CCA395882973SALL1c.2951A>G (p.Asp984Gly)
c.2660A>G (p.Asp887Gly)
c.77-1719A>G (n.77-1719A>G)
 dbSNP gnomAD v2 gnomAD v4
16g.51139271T>GCA395882982SALL1c.2951A>C (p.Asp984Ala)
c.2660A>C (p.Asp887Ala)
c.77-1719A>C (n.77-1719A>C)
16g.51139271T=CA2222017665SALL1c.2951A= (p.Asp984=)
c.2660A= (p.Asp887=)
c.77-1719A= (n.77-1719A=)
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.51139272C>ACA395882987SALL1c.2950G>T (p.Asp984Tyr)
c.2659G>T (p.Asp887Tyr)
c.77-1720G>T (n.77-1720G>T)
16g.51139272C>GCA395882995SALL1c.2950G>C (p.Asp984His)
c.2659G>C (p.Asp887His)
c.77-1720G>C (n.77-1720G>C)
16g.51139272C>TCA395882990SALL1c.2950G>A (p.Asp984Asn)
c.2659G>A (p.Asp887Asn)
c.77-1720G>A (n.77-1720G>A)
 COSMIC
16g.51139272_51139273insCCTCA2633181095SALL1c.2949_2950insAGG (p.Glu983_Asp984insArg)
c.2658_2659insAGG (p.Glu886_Asp887insArg)
c.77-1721_77-1720insAGG (n.77-1721_77-1720insAGG)
 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=)

Number of alleles fetched