Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
16g.51139374T>ACA395883554SALL1c.2848A>T (p.Arg950Ter)
c.2557A>T (p.Arg853Ter)
c.77-1822A>T (n.77-1822A>T)
16g.51139374T>CCA395883555SALL1c.2848A>G (p.Arg950Gly)
c.2557A>G (p.Arg853Gly)
c.77-1822A>G (n.77-1822A>G)
16g.51139374T>GCA495780096SALL1c.2848A>C (p.Arg950=)
c.2557A>C (p.Arg853=)
c.77-1822A>C (n.77-1822A>C)
16g.51139374_51139375insTACA2807012907SALL1c.2847_2848insTA (p.Arg950Ter)
c.2556_2557insTA (p.Arg853Ter)
c.77-1823_77-1822insTA (n.77-1823_77-1822insTA)
16g.51139375C>ACA395883557SALL1c.2847G>T (p.Gln949His)
c.2556G>T (p.Gln852His)
c.77-1823G>T (n.77-1823G>T)
COSMIC
16g.51139375C>GCA395883558SALL1c.2847G>C (p.Gln949His)
c.2556G>C (p.Gln852His)
c.77-1823G>C (n.77-1823G>C)
16g.51139375C>TCA495780097SALL1c.2847G>A (p.Gln949=)
c.2556G>A (p.Gln852=)
c.77-1823G>A (n.77-1823G>A)
gnomAD v4
16g.51139376T>ACA395883562SALL1c.2846A>T (p.Gln949Leu)
c.2555A>T (p.Gln852Leu)
c.77-1824A>T (n.77-1824A>T)
dbSNP
16g.51139376T>CCA281301056SALL1c.2846A>G (p.Gln949Arg)
c.2555A>G (p.Gln852Arg)
c.77-1824A>G (n.77-1824A>G)
ClinVar dbSNP gnomAD v4
16g.51139376T>GCA395883564SALL1c.2846A>C (p.Gln949Pro)
c.2555A>C (p.Gln852Pro)
c.77-1824A>C (n.77-1824A>C)
16g.51139376T=CA2222017857SALL1c.2846A= (p.Gln949=)
c.2555A= (p.Gln852=)
c.77-1824A= (n.77-1824A=)
16g.51139378_51139379delCA2807012908SALL1c.2845_2846del (p.Gln949GlufsTer26)
c.2554_2555del (p.Gln852GlufsTer26)
c.77-1825_77-1824del (n.77-1825_77-1824del)
16g.51139377G>ACA395883568SALL1c.2845C>T (p.Gln949Ter)
c.2554C>T (p.Gln852Ter)
c.77-1825C>T (n.77-1825C>T)
16g.51139377G>CCA395883571SALL1c.2845C>G (p.Gln949Glu)
c.2554C>G (p.Gln852Glu)
c.77-1825C>G (n.77-1825C>G)
16g.51139377G>TCA395883573SALL1c.2845C>A (p.Gln949Lys)
c.2554C>A (p.Gln852Lys)
c.77-1825C>A (n.77-1825C>A)
COSMIC
16g.51139378T>ACA495780103SALL1c.2844A>T (p.Pro948=)
c.2553A>T (p.Pro851=)
c.77-1826A>T (n.77-1826A>T)
16g.51139378T>CCA495780101SALL1c.2844A>G (p.Pro948=)
c.2553A>G (p.Pro851=)
c.77-1826A>G (n.77-1826A>G)
16g.51139378T>GCA495780099SALL1c.2844A>C (p.Pro948=)
c.2553A>C (p.Pro851=)
c.77-1826A>C (n.77-1826A>C)
16g.51139379G>ACA395883575SALL1c.2843C>T (p.Pro948Leu)
c.2552C>T (p.Pro851Leu)
c.77-1827C>T (n.77-1827C>T)
gnomAD v4
16g.51139379G>CCA395883577SALL1c.2843C>G (p.Pro948Arg)
c.2552C>G (p.Pro851Arg)
c.77-1827C>G (n.77-1827C>G)
gnomAD v4
16g.51139379G>TCA395883579SALL1c.2843C>A (p.Pro948Gln)
c.2552C>A (p.Pro851Gln)
c.77-1827C>A (n.77-1827C>A)
16g.51139380G>ACA395883581SALL1c.2842C>T (p.Pro948Ser)
c.2551C>T (p.Pro851Ser)
c.77-1828C>T (n.77-1828C>T)
16g.51139380G>CCA395883583SALL1c.2842C>G (p.Pro948Ala)
c.2551C>G (p.Pro851Ala)
c.77-1828C>G (n.77-1828C>G)
dbSNP gnomAD v2 gnomAD v4
16g.51139380G=CA2222017859SALL1c.2842C= (p.Pro948=)
c.2551C= (p.Pro851=)
c.77-1828C= (n.77-1828C=)
16g.51139380G>TCA395883585SALL1c.2842C>A (p.Pro948Thr)
c.2551C>A (p.Pro851Thr)
c.77-1828C>A (n.77-1828C>A)
dbSNP gnomAD v3 gnomAD v4
16g.51139381T>ACA395883587SALL1c.2841A>T (p.Lys947Asn)
c.2550A>T (p.Lys850Asn)
c.77-1829A>T (n.77-1829A>T)
16g.51139381T>CCA495780105SALL1c.2841A>G (p.Lys947=)
c.2550A>G (p.Lys850=)
c.77-1829A>G (n.77-1829A>G)
dbSNP gnomAD v3 gnomAD v4
16g.51139381T>GCA395883588SALL1c.2841A>C (p.Lys947Asn)
c.2550A>C (p.Lys850Asn)
c.77-1829A>C (n.77-1829A>C)
16g.51139381T=CA2222017864SALL1c.2841A= (p.Lys947=)
c.2550A= (p.Lys850=)
c.77-1829A= (n.77-1829A=)
16g.51139382T>ACA395883592SALL1c.2840A>T (p.Lys947Ile)
c.2549A>T (p.Lys850Ile)
c.77-1830A>T (n.77-1830A>T)
16g.51139382T>CCA395883589SALL1c.2840A>G (p.Lys947Arg)
c.2549A>G (p.Lys850Arg)
c.77-1830A>G (n.77-1830A>G)
16g.51139382T>GCA395883591SALL1c.2840A>C (p.Lys947Thr)
c.2549A>C (p.Lys850Thr)
c.77-1830A>C (n.77-1830A>C)
16g.51139383T>ACA395883594SALL1c.2839A>T (p.Lys947Ter)
c.2548A>T (p.Lys850Ter)
c.77-1831A>T (n.77-1831A>T)
16g.51139383T>CCA395883596SALL1c.2839A>G (p.Lys947Glu)
c.2548A>G (p.Lys850Glu)
c.77-1831A>G (n.77-1831A>G)
16g.51139383T>GCA395883597SALL1c.2839A>C (p.Lys947Gln)
c.2548A>C (p.Lys850Gln)
c.77-1831A>C (n.77-1831A>C)
16g.51139384C>ACA395883598SALL1c.2838G>T (p.Glu946Asp)
c.2547G>T (p.Glu849Asp)
c.77-1832G>T (n.77-1832G>T)
16g.51139384C>GCA395883599SALL1c.2838G>C (p.Glu946Asp)
c.2547G>C (p.Glu849Asp)
c.77-1832G>C (n.77-1832G>C)
16g.51139384C>TCA495780109SALL1c.2838G>A (p.Glu946=)
c.2547G>A (p.Glu849=)
c.77-1832G>A (n.77-1832G>A)
COSMIC
16g.51139385T>ACA395883601SALL1c.2837A>T (p.Glu946Val)
c.2546A>T (p.Glu849Val)
c.77-1833A>T (n.77-1833A>T)
16g.51139385T>CCA395883602SALL1c.2837A>G (p.Glu946Gly)
c.2546A>G (p.Glu849Gly)
c.77-1833A>G (n.77-1833A>G)
dbSNP gnomAD v4 COSMIC
16g.51139385T>GCA395883604SALL1c.2837A>C (p.Glu946Ala)
c.2546A>C (p.Glu849Ala)
c.77-1833A>C (n.77-1833A>C)
16g.51139385T=CA2222017867SALL1c.2837A= (p.Glu946=)
c.2546A= (p.Glu849=)
c.77-1833A= (n.77-1833A=)
16g.51139386C>ACA395883606SALL1c.2836G>T (p.Glu946Ter)
c.2545G>T (p.Glu849Ter)
c.77-1834G>T (n.77-1834G>T)
16g.51139386C=CA2222017873SALL1c.2836G= (p.Glu946=)
c.2545G= (p.Glu849=)
c.77-1834G= (n.77-1834G=)
16g.51139386C>GCA395883608SALL1c.2836G>C (p.Glu946Gln)
c.2545G>C (p.Glu849Gln)
c.77-1834G>C (n.77-1834G>C)
16g.51139386C>TCA8053031SALL1c.2836G>A (p.Glu946Lys)
c.2545G>A (p.Glu849Lys)
c.77-1834G>A (n.77-1834G>A)
dbSNP ExAC gnomAD v2
16g.51139387C>ACA395883614SALL1c.2835G>T (p.Glu945Asp)
c.2544G>T (p.Glu848Asp)
c.77-1835G>T (n.77-1835G>T)
16g.51139387C>GCA395883612SALL1c.2835G>C (p.Glu945Asp)
c.2544G>C (p.Glu848Asp)
c.77-1835G>C (n.77-1835G>C)
16g.51139387C>TCA495780111SALL1c.2835G>A (p.Glu945=)
c.2544G>A (p.Glu848=)
c.77-1835G>A (n.77-1835G>A)
COSMIC
16g.51139388T>ACA395883616SALL1c.2834A>T (p.Glu945Val)
c.2543A>T (p.Glu848Val)
c.77-1836A>T (n.77-1836A>T)
16g.51139388T>CCA395883620SALL1c.2834A>G (p.Glu945Gly)
c.2543A>G (p.Glu848Gly)
c.77-1836A>G (n.77-1836A>G)
gnomAD v4
16g.51139388T>GCA395883618SALL1c.2834A>C (p.Glu945Ala)
c.2543A>C (p.Glu848Ala)
c.77-1836A>C (n.77-1836A>C)
16g.51139389C>ACA395883622SALL1c.2833G>T (p.Glu945Ter)
c.2542G>T (p.Glu848Ter)
c.77-1837G>T (n.77-1837G>T)
16g.51139389C>GCA395883624SALL1c.2833G>C (p.Glu945Gln)
c.2542G>C (p.Glu848Gln)
c.77-1837G>C (n.77-1837G>C)
16g.51139389C>TCA395883626SALL1c.2833G>A (p.Glu945Lys)
c.2542G>A (p.Glu848Lys)
c.77-1837G>A (n.77-1837G>A)
16g.51139390A=CA2222017876SALL1c.2832T= (p.Ile944=)
c.2541T= (p.Ile847=)
c.77-1838T= (n.77-1838T=)
16g.51139390A>CCA395883627SALL1c.2832T>G (p.Ile944Met)
c.2541T>G (p.Ile847Met)
c.77-1838T>G (n.77-1838T>G)
16g.51139390A>GCA495780117SALL1c.2832T>C (p.Ile944=)
c.2541T>C (p.Ile847=)
c.77-1838T>C (n.77-1838T>C)
dbSNP gnomAD v4
16g.51139390A>TCA495780118SALL1c.2832T>A (p.Ile944=)
c.2541T>A (p.Ile847=)
c.77-1838T>A (n.77-1838T>A)
16g.51139391A=CA2222017879SALL1c.2831T= (p.Ile944=)
c.2540T= (p.Ile847=)
c.77-1839T= (n.77-1839T=)
16g.51139391A>CCA395883629SALL1c.2831T>G (p.Ile944Ser)
c.2540T>G (p.Ile847Ser)
c.77-1839T>G (n.77-1839T>G)
16g.51139391A>GCA8053032SALL1c.2831T>C (p.Ile944Thr)
c.2540T>C (p.Ile847Thr)
c.77-1839T>C (n.77-1839T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139391A>TCA395883631SALL1c.2831T>A (p.Ile944Asn)
c.2540T>A (p.Ile847Asn)
c.77-1839T>A (n.77-1839T>A)
16g.51139392T>ACA395883634SALL1c.2830A>T (p.Ile944Phe)
c.2539A>T (p.Ile847Phe)
c.77-1840A>T (n.77-1840A>T)
16g.51139392T>CCA395883636SALL1c.2830A>G (p.Ile944Val)
c.2539A>G (p.Ile847Val)
c.77-1840A>G (n.77-1840A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139392T>GCA395883638SALL1c.2830A>C (p.Ile944Leu)
c.2539A>C (p.Ile847Leu)
c.77-1840A>C (n.77-1840A>C)
dbSNP gnomAD v3 gnomAD v4
16g.51139392T=CA2222017883SALL1c.2830A= (p.Ile944=)
c.2539A= (p.Ile847=)
c.77-1840A= (n.77-1840A=)
16g.51139393G>ACA495780120SALL1c.2829C>T (p.Ser943=)
c.2538C>T (p.Ser846=)
c.77-1841C>T (n.77-1841C>T)
16g.51139393G>CCA395883640SALL1c.2829C>G (p.Ser943Arg)
c.2538C>G (p.Ser846Arg)
c.77-1841C>G (n.77-1841C>G)
gnomAD v4
16g.51139393G>TCA395883641SALL1c.2829C>A (p.Ser943Arg)
c.2538C>A (p.Ser846Arg)
c.77-1841C>A (n.77-1841C>A)
16g.51139394C>ACA395883644SALL1c.2828G>T (p.Ser943Ile)
c.2537G>T (p.Ser846Ile)
c.77-1842G>T (n.77-1842G>T)
16g.51139394C>GCA395883647SALL1c.2828G>C (p.Ser943Thr)
c.2537G>C (p.Ser846Thr)
c.77-1842G>C (n.77-1842G>C)
16g.51139394C>TCA395883645SALL1c.2828G>A (p.Ser943Asn)
c.2537G>A (p.Ser846Asn)
c.77-1842G>A (n.77-1842G>A)
16g.51139395T>ACA395883649SALL1c.2827A>T (p.Ser943Cys)
c.2536A>T (p.Ser846Cys)
c.77-1843A>T (n.77-1843A>T)
16g.51139395T>CCA281301058SALL1c.2827A>G (p.Ser943Gly)
c.2536A>G (p.Ser846Gly)
c.77-1843A>G (n.77-1843A>G)
dbSNP
16g.51139395T>GCA395883652SALL1c.2827A>C (p.Ser943Arg)
c.2536A>C (p.Ser846Arg)
c.77-1843A>C (n.77-1843A>C)
16g.51139395T=CA2222017888SALL1c.2827A= (p.Ser943=)
c.2536A= (p.Ser846=)
c.77-1843A= (n.77-1843A=)
16g.51139396G>ACA495780122SALL1c.2826C>T (p.Pro942=)
c.2535C>T (p.Pro845=)
c.77-1844C>T (n.77-1844C>T)
dbSNP gnomAD v4
16g.51139396G>CCA495780124SALL1c.2826C>G (p.Pro942=)
c.2535C>G (p.Pro845=)
c.77-1844C>G (n.77-1844C>G)
16g.51139396G=CA2222017892SALL1c.2826C= (p.Pro942=)
c.2535C= (p.Pro845=)
c.77-1844C= (n.77-1844C=)
16g.51139396G>TCA495780125SALL1c.2826C>A (p.Pro942=)
c.2535C>A (p.Pro845=)
c.77-1844C>A (n.77-1844C>A)
16g.51139397G>ACA8053033SALL1c.2825C>T (p.Pro942Leu)
c.2534C>T (p.Pro845Leu)
c.77-1845C>T (n.77-1845C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139397G>CCA395883656SALL1c.2825C>G (p.Pro942Arg)
c.2534C>G (p.Pro845Arg)
c.77-1845C>G (n.77-1845C>G)
16g.51139397G=CA2222017900SALL1c.2825C= (p.Pro942=)
c.2534C= (p.Pro845=)
c.77-1845C= (n.77-1845C=)
16g.51139397G>TCA10604890SALL1c.2825C>A (p.Pro942His)
c.2534C>A (p.Pro845His)
c.77-1845C>A (n.77-1845C>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.51139398G>ACA395883660SALL1c.2824C>T (p.Pro942Ser)
c.2533C>T (p.Pro845Ser)
c.77-1846C>T (n.77-1846C>T)
gnomAD v4
16g.51139398G>CCA395883662SALL1c.2824C>G (p.Pro942Ala)
c.2533C>G (p.Pro845Ala)
c.77-1846C>G (n.77-1846C>G)
16g.51139398G>TCA395883664SALL1c.2824C>A (p.Pro942Thr)
c.2533C>A (p.Pro845Thr)
c.77-1846C>A (n.77-1846C>A)
gnomAD v4
16g.51139399T>ACA495780127SALL1c.2823A>T (p.Ser941=)
c.2532A>T (p.Ser844=)
c.77-1847A>T (n.77-1847A>T)
16g.51139399T>CCA495780130SALL1c.2823A>G (p.Ser941=)
c.2532A>G (p.Ser844=)
c.77-1847A>G (n.77-1847A>G)
16g.51139399T>GCA495780128SALL1c.2823A>C (p.Ser941=)
c.2532A>C (p.Ser844=)
c.77-1847A>C (n.77-1847A>C)
16g.51139400G>ACA395883668SALL1c.2822C>T (p.Ser941Leu)
c.2531C>T (p.Ser844Leu)
c.77-1848C>T (n.77-1848C>T)
16g.51139400G>CCA395883670SALL1c.2822C>G (p.Ser941Ter)
c.2531C>G (p.Ser844Ter)
c.77-1848C>G (n.77-1848C>G)
16g.51139400G>TCA395883666SALL1c.2822C>A (p.Ser941Ter)
c.2531C>A (p.Ser844Ter)
c.77-1848C>A (n.77-1848C>A)
16g.51139401A>CCA395883672SALL1c.2821T>G (p.Ser941Ala)
c.2530T>G (p.Ser844Ala)
c.77-1849T>G (n.77-1849T>G)
16g.51139401A>GCA395883674SALL1c.2821T>C (p.Ser941Pro)
c.2530T>C (p.Ser844Pro)
c.77-1849T>C (n.77-1849T>C)
gnomAD v4
16g.51139401A>TCA395883676SALL1c.2821T>A (p.Ser941Thr)
c.2530T>A (p.Ser844Thr)
c.77-1849T>A (n.77-1849T>A)
16g.51139402C>ACA395883678SALL1c.2820G>T (p.Lys940Asn)
c.2529G>T (p.Lys843Asn)
c.77-1850G>T (n.77-1850G>T)
16g.51139402C>GCA395883680SALL1c.2820G>C (p.Lys940Asn)
c.2529G>C (p.Lys843Asn)
c.77-1850G>C (n.77-1850G>C)
16g.51139402C>TCA495780135SALL1c.2820G>A (p.Lys940=)
c.2529G>A (p.Lys843=)
c.77-1850G>A (n.77-1850G>A)
16g.51139403T>ACA395883683SALL1c.2819A>T (p.Lys940Met)
c.2528A>T (p.Lys843Met)
c.77-1851A>T (n.77-1851A>T)
16g.51139403T>CCA395883685SALL1c.2819A>G (p.Lys940Arg)
c.2528A>G (p.Lys843Arg)
c.77-1851A>G (n.77-1851A>G)
gnomAD v4
16g.51139403T>GCA395883688SALL1c.2819A>C (p.Lys940Thr)
c.2528A>C (p.Lys843Thr)
c.77-1851A>C (n.77-1851A>C)
16g.51139404T>ACA395883690SALL1c.2818A>T (p.Lys940Ter)
c.2527A>T (p.Lys843Ter)
c.77-1852A>T (n.77-1852A>T)
16g.51139404T>CCA395883692SALL1c.2818A>G (p.Lys940Glu)
c.2527A>G (p.Lys843Glu)
c.77-1852A>G (n.77-1852A>G)
16g.51139404T>GCA395883694SALL1c.2818A>C (p.Lys940Gln)
c.2527A>C (p.Lys843Gln)
c.77-1852A>C (n.77-1852A>C)
16g.51139405G>ACA495780138SALL1c.2817C>T (p.His939=)
c.2526C>T (p.His842=)
c.77-1853C>T (n.77-1853C>T)
dbSNP gnomAD v2 gnomAD v4
16g.51139405G>CCA395883695SALL1c.2817C>G (p.His939Gln)
c.2526C>G (p.His842Gln)
c.77-1853C>G (n.77-1853C>G)
16g.51139405G=CA2222017906SALL1c.2817C= (p.His939=)
c.2526C= (p.His842=)
c.77-1853C= (n.77-1853C=)
16g.51139405G>TCA395883698SALL1c.2817C>A (p.His939Gln)
c.2526C>A (p.His842Gln)
c.77-1853C>A (n.77-1853C>A)
16g.51139406T>ACA395883705SALL1c.2816A>T (p.His939Leu)
c.2525A>T (p.His842Leu)
c.77-1854A>T (n.77-1854A>T)
16g.51139406T>CCA395883703SALL1c.2816A>G (p.His939Arg)
c.2525A>G (p.His842Arg)
c.77-1854A>G (n.77-1854A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139406T>GCA395883701SALL1c.2816A>C (p.His939Pro)
c.2525A>C (p.His842Pro)
c.77-1854A>C (n.77-1854A>C)
16g.51139406T=CA2222017913SALL1c.2816A= (p.His939=)
c.2525A= (p.His842=)
c.77-1854A= (n.77-1854A=)
16g.51139407G>ACA395883708SALL1c.2815C>T (p.His939Tyr)
c.2524C>T (p.His842Tyr)
c.77-1855C>T (n.77-1855C>T)
16g.51139407G>CCA395883710SALL1c.2815C>G (p.His939Asp)
c.2524C>G (p.His842Asp)
c.77-1855C>G (n.77-1855C>G)
16g.51139407G=CA2222017916SALL1c.2815C= (p.His939=)
c.2524C= (p.His842=)
c.77-1855C= (n.77-1855C=)
16g.51139407G>TCA395883712SALL1c.2815C>A (p.His939Asn)
c.2524C>A (p.His842Asn)
c.77-1855C>A (n.77-1855C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139408G>ACA495780141SALL1c.2814C>T (p.Phe938=)
c.2523C>T (p.Phe841=)
c.77-1856C>T (n.77-1856C>T)
16g.51139408G>CCA395883714SALL1c.2814C>G (p.Phe938Leu)
c.2523C>G (p.Phe841Leu)
c.77-1856C>G (n.77-1856C>G)
dbSNP
16g.51139408G=CA2222017919SALL1c.2814C= (p.Phe938=)
c.2523C= (p.Phe841=)
c.77-1856C= (n.77-1856C=)
16g.51139408G>TCA395883716SALL1c.2814C>A (p.Phe938Leu)
c.2523C>A (p.Phe841Leu)
c.77-1856C>A (n.77-1856C>A)
16g.51139409A=CA2222017922SALL1c.2813T= (p.Phe938=)
c.2522T= (p.Phe841=)
c.77-1857T= (n.77-1857T=)
16g.51139409A>CCA395883718SALL1c.2813T>G (p.Phe938Cys)
c.2522T>G (p.Phe841Cys)
c.77-1857T>G (n.77-1857T>G)
dbSNP
16g.51139409A>GCA395883719SALL1c.2813T>C (p.Phe938Ser)
c.2522T>C (p.Phe841Ser)
c.77-1857T>C (n.77-1857T>C)
dbSNP
16g.51139409A>TCA395883721SALL1c.2813T>A (p.Phe938Tyr)
c.2522T>A (p.Phe841Tyr)
c.77-1857T>A (n.77-1857T>A)
16g.51139410A>CCA395883723SALL1c.2812T>G (p.Phe938Val)
c.2521T>G (p.Phe841Val)
c.77-1858T>G (n.77-1858T>G)
16g.51139410A>GCA395883725SALL1c.2812T>C (p.Phe938Leu)
c.2521T>C (p.Phe841Leu)
c.77-1858T>C (n.77-1858T>C)
16g.51139410A>TCA395883726SALL1c.2812T>A (p.Phe938Ile)
c.2521T>A (p.Phe841Ile)
c.77-1858T>A (n.77-1858T>A)
16g.51139411C>ACA281301066SALL1c.2811G>T (p.Glu937Asp)
c.2520G>T (p.Glu840Asp)
c.77-1859G>T (n.77-1859G>T)
dbSNP
16g.51139411C=CA2222017924SALL1c.2811G= (p.Glu937=)
c.2520G= (p.Glu840=)
c.77-1859G= (n.77-1859G=)
16g.51139411C>GCA395883727SALL1c.2811G>C (p.Glu937Asp)
c.2520G>C (p.Glu840Asp)
c.77-1859G>C (n.77-1859G>C)
16g.51139411C>TCA495780145SALL1c.2811G>A (p.Glu937=)
c.2520G>A (p.Glu840=)
c.77-1859G>A (n.77-1859G>A)
16g.51139412T>ACA395883731SALL1c.2810A>T (p.Glu937Val)
c.2519A>T (p.Glu840Val)
c.77-1860A>T (n.77-1860A>T)
gnomAD v4
16g.51139412T>CCA395883732SALL1c.2810A>G (p.Glu937Gly)
c.2519A>G (p.Glu840Gly)
c.77-1860A>G (n.77-1860A>G)
16g.51139412T>GCA395883729SALL1c.2810A>C (p.Glu937Ala)
c.2519A>C (p.Glu840Ala)
c.77-1860A>C (n.77-1860A>C)
16g.51139413C>ACA395883734SALL1c.2809G>T (p.Glu937Ter)
c.2518G>T (p.Glu840Ter)
c.77-1861G>T (n.77-1861G>T)
16g.51139413C=CA2222017930SALL1c.2809G= (p.Glu937=)
c.2518G= (p.Glu840=)
c.77-1861G= (n.77-1861G=)
16g.51139413C>GCA395883735SALL1c.2809G>C (p.Glu937Gln)
c.2518G>C (p.Glu840Gln)
c.77-1861G>C (n.77-1861G>C)
dbSNP
16g.51139413C>TCA8053034SALL1c.2809G>A (p.Glu937Lys)
c.2518G>A (p.Glu840Lys)
c.77-1861G>A (n.77-1861G>A)
dbSNP ExAC gnomAD v4
16g.51139413_51139414delinsAACA645592649SALL1c.2808_2809delinsTT (p.Gln936HisfsTer2)
c.2517_2518delinsTT (p.Gln839HisfsTer2)
c.77-1862_77-1861delinsTT (n.77-1862_77-1861delinsTT)
COSMIC
16g.51139414C>ACA395883737SALL1c.2808G>T (p.Gln936His)
c.2517G>T (p.Gln839His)
c.77-1862G>T (n.77-1862G>T)
COSMIC
16g.51139414C=CA2222017933SALL1c.2808G= (p.Gln936=)
c.2517G= (p.Gln839=)
c.77-1862G= (n.77-1862G=)
16g.51139414C>GCA395883739SALL1c.2808G>C (p.Gln936His)
c.2517G>C (p.Gln839His)
c.77-1862G>C (n.77-1862G>C)
16g.51139414C>TCA8053035SALL1c.2808G>A (p.Gln936=)
c.2517G>A (p.Gln839=)
c.77-1862G>A (n.77-1862G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139415T>ACA395883742SALL1c.2807A>T (p.Gln936Leu)
c.2516A>T (p.Gln839Leu)
c.77-1863A>T (n.77-1863A>T)
16g.51139415T>CCA395883744SALL1c.2807A>G (p.Gln936Arg)
c.2516A>G (p.Gln839Arg)
c.77-1863A>G (n.77-1863A>G)
16g.51139415T>GCA395883746SALL1c.2807A>C (p.Gln936Pro)
c.2516A>C (p.Gln839Pro)
c.77-1863A>C (n.77-1863A>C)
16g.51139416G>ACA395883749SALL1c.2806C>T (p.Gln936Ter)
c.2515C>T (p.Gln839Ter)
c.77-1864C>T (n.77-1864C>T)
16g.51139416G>CCA395883750SALL1c.2806C>G (p.Gln936Glu)
c.2515C>G (p.Gln839Glu)
c.77-1864C>G (n.77-1864C>G)
dbSNP gnomAD v4
16g.51139416G=CA2222017937SALL1c.2806C= (p.Gln936=)
c.2515C= (p.Gln839=)
c.77-1864C= (n.77-1864C=)
16g.51139416G>TCA395883751SALL1c.2806C>A (p.Gln936Lys)
c.2515C>A (p.Gln839Lys)
c.77-1864C>A (n.77-1864C>A)
16g.51139417C>ACA495780149SALL1c.2805G>T (p.Thr935=)
c.2514G>T (p.Thr838=)
c.77-1865G>T (n.77-1865G>T)
dbSNP gnomAD v2 gnomAD v4
16g.51139417C=CA2222017941SALL1c.2805G= (p.Thr935=)
c.2514G= (p.Thr838=)
c.77-1865G= (n.77-1865G=)
16g.51139417C>GCA495780150SALL1c.2805G>C (p.Thr935=)
c.2514G>C (p.Thr838=)
c.77-1865G>C (n.77-1865G>C)
16g.51139417C>TCA8053036SALL1c.2805G>A (p.Thr935=)
c.2514G>A (p.Thr838=)
c.77-1865G>A (n.77-1865G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139418G>ACA8053038SALL1c.2804C>T (p.Thr935Met)
c.2513C>T (p.Thr838Met)
c.77-1866C>T (n.77-1866C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.51139418G>CCA395883755SALL1c.2804C>G (p.Thr935Arg)
c.2513C>G (p.Thr838Arg)
c.77-1866C>G (n.77-1866C>G)
dbSNP gnomAD v2 COSMIC
16g.51139418G=CA2222017947SALL1c.2804C= (p.Thr935=)
c.2513C= (p.Thr838=)
c.77-1866C= (n.77-1866C=)
16g.51139418G>TCA395883753SALL1c.2804C>A (p.Thr935Lys)
c.2513C>A (p.Thr838Lys)
c.77-1866C>A (n.77-1866C>A)
16g.51139419T>ACA8053039SALL1c.2803A>T (p.Thr935Ser)
c.2512A>T (p.Thr838Ser)
c.77-1867A>T (n.77-1867A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139419T>CCA395883761SALL1c.2803A>G (p.Thr935Ala)
c.2512A>G (p.Thr838Ala)
c.77-1867A>G (n.77-1867A>G)
16g.51139419T>GCA395883763SALL1c.2803A>C (p.Thr935Pro)
c.2512A>C (p.Thr838Pro)
c.77-1867A>C (n.77-1867A>C)
gnomAD v4
16g.51139419T=CA2222017958SALL1c.2803A= (p.Thr935=)
c.2512A= (p.Thr838=)
c.77-1867A= (n.77-1867A=)
16g.51139421_51139426dupCA8053037SALL1c.2798_2803dup (p.Ser934_Thr935insAsnSer)
c.2507_2512dup (p.Ser837_Thr838insAsnSer)
c.77-1872_77-1867dup (n.77-1872_77-1867dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139420G>ACA495780155SALL1c.2802C>T (p.Ser934=)
c.2511C>T (p.Ser837=)
c.77-1868C>T (n.77-1868C>T)
dbSNP
16g.51139420G>CCA395883765SALL1c.2802C>G (p.Ser934Arg)
c.2511C>G (p.Ser837Arg)
c.77-1868C>G (n.77-1868C>G)
16g.51139420G=CA2222017967SALL1c.2802C= (p.Ser934=)
c.2511C= (p.Ser837=)
c.77-1868C= (n.77-1868C=)
16g.51139420G>TCA395883766SALL1c.2802C>A (p.Ser934Arg)
c.2511C>A (p.Ser837Arg)
c.77-1868C>A (n.77-1868C>A)
16g.51139420_51139421delinsGCCA2222017971SALL1c.2801_2802delinsGC (p.Ser934=)
c.2510_2511delinsGC (p.Ser837=)
c.77-1869_77-1868delinsGC (n.77-1869_77-1868delinsGC)
16g.51139421delCA915949259SALL1c.2801del (p.Ser934ThrfsTer?)
c.2510del (p.Ser837ThrfsTer?)
c.77-1869del (n.77-1869del)
ClinVar dbSNP
16g.51139421C>ACA395883770SALL1c.2801G>T (p.Ser934Ile)
c.2510G>T (p.Ser837Ile)
c.77-1869G>T (n.77-1869G>T)
dbSNP
16g.51139421C=CA2222017984SALL1c.2801G= (p.Ser934=)
c.2510G= (p.Ser837=)
c.77-1869G= (n.77-1869G=)
16g.51139421C>GCA395883771SALL1c.2801G>C (p.Ser934Thr)
c.2510G>C (p.Ser837Thr)
c.77-1869G>C (n.77-1869G>C)
16g.51139421C>TCA8053040SALL1c.2801G>A (p.Ser934Asn)
c.2510G>A (p.Ser837Asn)
c.77-1869G>A (n.77-1869G>A)
dbSNP ExAC COSMIC
16g.51139422T>ACA395883775SALL1c.2800A>T (p.Ser934Cys)
c.2509A>T (p.Ser837Cys)
c.77-1870A>T (n.77-1870A>T)
16g.51139422T>CCA395883777SALL1c.2800A>G (p.Ser934Gly)
c.2509A>G (p.Ser837Gly)
c.77-1870A>G (n.77-1870A>G)
ClinVar gnomAD v4
16g.51139422T>GCA395883779SALL1c.2800A>C (p.Ser934Arg)
c.2509A>C (p.Ser837Arg)
c.77-1870A>C (n.77-1870A>C)
16g.51139423G>ACA495780159SALL1c.2799C>T (p.Asn933=)
c.2508C>T (p.Asn836=)
c.77-1871C>T (n.77-1871C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139423G>CCA395883780SALL1c.2799C>G (p.Asn933Lys)
c.2508C>G (p.Asn836Lys)
c.77-1871C>G (n.77-1871C>G)
16g.51139423G=CA2222017990SALL1c.2799C= (p.Asn933=)
c.2508C= (p.Asn836=)
c.77-1871C= (n.77-1871C=)
16g.51139423G>TCA395883781SALL1c.2799C>A (p.Asn933Lys)
c.2508C>A (p.Asn836Lys)
c.77-1871C>A (n.77-1871C>A)
16g.51139424T>ACA395883785SALL1c.2798A>T (p.Asn933Ile)
c.2507A>T (p.Asn836Ile)
c.77-1872A>T (n.77-1872A>T)
16g.51139424T>CCA8053041SALL1c.2798A>G (p.Asn933Ser)
c.2507A>G (p.Asn836Ser)
c.77-1872A>G (n.77-1872A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139424T>GCA395883782SALL1c.2798A>C (p.Asn933Thr)
c.2507A>C (p.Asn836Thr)
c.77-1872A>C (n.77-1872A>C)
dbSNP
16g.51139424T=CA2222017999SALL1c.2798A= (p.Asn933=)
c.2507A= (p.Asn836=)
c.77-1872A= (n.77-1872A=)
16g.51139425T>ACA395883788SALL1c.2797A>T (p.Asn933Tyr)
c.2506A>T (p.Asn836Tyr)
c.77-1873A>T (n.77-1873A>T)
16g.51139425T>CCA395883790SALL1c.2797A>G (p.Asn933Asp)
c.2506A>G (p.Asn836Asp)
c.77-1873A>G (n.77-1873A>G)
gnomAD v4
16g.51139425T>GCA395883792SALL1c.2797A>C (p.Asn933His)
c.2506A>C (p.Asn836His)
c.77-1873A>C (n.77-1873A>C)
16g.51139426G>ACA495780161SALL1c.2796C>T (p.Ser932=)
c.2505C>T (p.Ser835=)
c.77-1874C>T (n.77-1874C>T)
gnomAD v4 COSMIC
16g.51139426G>CCA495780162SALL1c.2796C>G (p.Ser932=)
c.2505C>G (p.Ser835=)
c.77-1874C>G (n.77-1874C>G)
16g.51139426G=CA2222018004SALL1c.2796C= (p.Ser932=)
c.2505C= (p.Ser835=)
c.77-1874C= (n.77-1874C=)
16g.51139426G>TCA8053042SALL1c.2796C>A (p.Ser932=)
c.2505C>A (p.Ser835=)
c.77-1874C>A (n.77-1874C>A)
dbSNP ExAC gnomAD v2
16g.51139427G>ACA395883795SALL1c.2795C>T (p.Ser932Phe)
c.2504C>T (p.Ser835Phe)
c.77-1875C>T (n.77-1875C>T)
16g.51139427G>CCA395883797SALL1c.2795C>G (p.Ser932Cys)
c.2504C>G (p.Ser835Cys)
c.77-1875C>G (n.77-1875C>G)
16g.51139427G>TCA395883798SALL1c.2795C>A (p.Ser932Tyr)
c.2504C>A (p.Ser835Tyr)
c.77-1875C>A (n.77-1875C>A)
COSMIC
16g.51139428A>CCA395883804SALL1c.2794T>G (p.Ser932Ala)
c.2503T>G (p.Ser835Ala)
c.77-1876T>G (n.77-1876T>G)
16g.51139428A>GCA395883800SALL1c.2794T>C (p.Ser932Pro)
c.2503T>C (p.Ser835Pro)
c.77-1876T>C (n.77-1876T>C)
16g.51139428A>TCA395883802SALL1c.2794T>A (p.Ser932Thr)
c.2503T>A (p.Ser835Thr)
c.77-1876T>A (n.77-1876T>A)
16g.51139429C>ACA495780163SALL1c.2793G>T (p.Pro931=)
c.2502G>T (p.Pro834=)
c.77-1877G>T (n.77-1877G>T)
16g.51139429C=CA2222018008SALL1c.2793G= (p.Pro931=)
c.2502G= (p.Pro834=)
c.77-1877G= (n.77-1877G=)
16g.51139429C>GCA8053044SALL1c.2793G>C (p.Pro931=)
c.2502G>C (p.Pro834=)
c.77-1877G>C (n.77-1877G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139429C>TCA8053043SALL1c.2793G>A (p.Pro931=)
c.2502G>A (p.Pro834=)
c.77-1877G>A (n.77-1877G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139430G>ACA8053045SALL1c.2792C>T (p.Pro931Leu)
c.2501C>T (p.Pro834Leu)
c.77-1878C>T (n.77-1878C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139430G>CCA395883811SALL1c.2792C>G (p.Pro931Arg)
c.2501C>G (p.Pro834Arg)
c.77-1878C>G (n.77-1878C>G)
16g.51139430G=CA2222018017SALL1c.2792C= (p.Pro931=)
c.2501C= (p.Pro834=)
c.77-1878C= (n.77-1878C=)
16g.51139430G>TCA395883812SALL1c.2792C>A (p.Pro931Gln)
c.2501C>A (p.Pro834Gln)
c.77-1878C>A (n.77-1878C>A)
COSMIC
16g.51139431G>ACA395883815SALL1c.2791C>T (p.Pro931Ser)
c.2500C>T (p.Pro834Ser)
c.77-1879C>T (n.77-1879C>T)
16g.51139431G>CCA395883818SALL1c.2791C>G (p.Pro931Ala)
c.2500C>G (p.Pro834Ala)
c.77-1879C>G (n.77-1879C>G)
gnomAD v4
16g.51139431G>TCA395883816SALL1c.2791C>A (p.Pro931Thr)
c.2500C>A (p.Pro834Thr)
c.77-1879C>A (n.77-1879C>A)

Number of alleles fetched