Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.51139216_51139219delCA915949258SALL1c.3005_3008del (p.Ala1002ValfsTer?)
c.2714_2717del (p.Ala905ValfsTer?)
c.77-1665_77-1662del (n.77-1665_77-1662del)
 ClinVar dbSNP
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=)
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)

Number of alleles fetched