| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.51784304_51785229delinsCTAAGGCAGGAGAATCACTTGAACCCAGAAT | CA645610833 | SALL4 | c.2743-545_3123delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.412-545_792delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.1432-545_1812delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.2437-545_2817delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.2617-545_2997delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG | COSMIC |
| 20 | g.51784405C>A | CA409005840 | SALL4 | c.3022G>T (p.Val1008Leu) c.691G>T (p.Val231Leu) c.1711G>T (p.Val571Leu) c.2716G>T (p.Val906Leu) c.2896G>T (p.Val966Leu) | gnomAD v4 |
| 20 | g.51784405C>G | CA409005841 | SALL4 | c.3022G>C (p.Val1008Leu) c.691G>C (p.Val231Leu) c.1711G>C (p.Val571Leu) c.2716G>C (p.Val906Leu) c.2896G>C (p.Val966Leu) | |
| 20 | g.51784405C>T | CA409005842 | SALL4 | c.3022G>A (p.Val1008Met) c.691G>A (p.Val231Met) c.1711G>A (p.Val571Met) c.2716G>A (p.Val906Met) c.2896G>A (p.Val966Met) | |
| 20 | g.51784406A>C | CA511025723 | SALL4 | c.3021T>G (p.Val1007=) c.690T>G (p.Val230=) c.1710T>G (p.Val570=) c.2715T>G (p.Val905=) c.2895T>G (p.Val965=) | |
| 20 | g.51784406A>G | CA511025724 | SALL4 | c.3021T>C (p.Val1007=) c.690T>C (p.Val230=) c.1710T>C (p.Val570=) c.2715T>C (p.Val905=) c.2895T>C (p.Val965=) | |
| 20 | g.51784406A>T | CA511025725 | SALL4 | c.3021T>A (p.Val1007=) c.690T>A (p.Val230=) c.1710T>A (p.Val570=) c.2715T>A (p.Val905=) c.2895T>A (p.Val965=) | |
| 20 | g.51784407A= | CA2369155257 | SALL4 | c.3020T= (p.Val1007=) c.689T= (p.Val230=) c.1709T= (p.Val570=) c.2714T= (p.Val905=) c.2894T= (p.Val965=) | |
| 20 | g.51784407A>C | CA409005843 | SALL4 | c.3020T>G (p.Val1007Gly) c.689T>G (p.Val230Gly) c.1709T>G (p.Val570Gly) c.2714T>G (p.Val905Gly) c.2894T>G (p.Val965Gly) | |
| 20 | g.51784407A>G | CA315365901 | SALL4 | c.3020T>C (p.Val1007Ala) c.689T>C (p.Val230Ala) c.1709T>C (p.Val570Ala) c.2714T>C (p.Val905Ala) c.2894T>C (p.Val965Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784407A>T | CA409005844 | SALL4 | c.3020T>A (p.Val1007Asp) c.689T>A (p.Val230Asp) c.1709T>A (p.Val570Asp) c.2714T>A (p.Val905Asp) c.2894T>A (p.Val965Asp) | |
| 20 | g.51784408C>A | CA409005845 | SALL4 | c.3019G>T (p.Val1007Phe) c.688G>T (p.Val230Phe) c.1708G>T (p.Val570Phe) c.2713G>T (p.Val905Phe) c.2893G>T (p.Val965Phe) | |
| 20 | g.51784408C= | CA2369155258 | SALL4 | c.3019G= (p.Val1007=) c.688G= (p.Val230=) c.1708G= (p.Val570=) c.2713G= (p.Val905=) c.2893G= (p.Val965=) | |
| 20 | g.51784408C>G | CA409005846 | SALL4 | c.3019G>C (p.Val1007Leu) c.688G>C (p.Val230Leu) c.1708G>C (p.Val570Leu) c.2713G>C (p.Val905Leu) c.2893G>C (p.Val965Leu) | |
| 20 | g.51784408C>T | CA409005847 | SALL4 | c.3019G>A (p.Val1007Ile) c.688G>A (p.Val230Ile) c.1708G>A (p.Val570Ile) c.2713G>A (p.Val905Ile) c.2893G>A (p.Val965Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784409G>A | CA9911944 | SALL4 | c.3018C>T (p.Ser1006=) c.687C>T (p.Ser229=) c.1707C>T (p.Ser569=) c.2712C>T (p.Ser904=) c.2892C>T (p.Ser964=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.51784409G>C | CA511025729 | SALL4 | c.3018C>G (p.Ser1006=) c.687C>G (p.Ser229=) c.1707C>G (p.Ser569=) c.2712C>G (p.Ser904=) c.2892C>G (p.Ser964=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784409G= | CA2369155259 | SALL4 | c.3018C= (p.Ser1006=) c.687C= (p.Ser229=) c.1707C= (p.Ser569=) c.2712C= (p.Ser904=) c.2892C= (p.Ser964=) | |
| 20 | g.51784409G>T | CA511025732 | SALL4 | c.3018C>A (p.Ser1006=) c.687C>A (p.Ser229=) c.1707C>A (p.Ser569=) c.2712C>A (p.Ser904=) c.2892C>A (p.Ser964=) | gnomAD v4 |
| 20 | g.51784410G>A | CA409005848 | SALL4 | c.3017C>T (p.Ser1006Phe) c.686C>T (p.Ser229Phe) c.1706C>T (p.Ser569Phe) c.2711C>T (p.Ser904Phe) c.2891C>T (p.Ser964Phe) | COSMIC |
| 20 | g.51784410G>C | CA409005850 | SALL4 | c.3017C>G (p.Ser1006Cys) c.686C>G (p.Ser229Cys) c.1706C>G (p.Ser569Cys) c.2711C>G (p.Ser904Cys) c.2891C>G (p.Ser964Cys) | |
| 20 | g.51784410G>T | CA409005849 | SALL4 | c.3017C>A (p.Ser1006Tyr) c.686C>A (p.Ser229Tyr) c.1706C>A (p.Ser569Tyr) c.2711C>A (p.Ser904Tyr) c.2891C>A (p.Ser964Tyr) | |
| 20 | g.51784411A= | CA2369155260 | SALL4 | c.3016T= (p.Ser1006=) c.685T= (p.Ser229=) c.1705T= (p.Ser569=) c.2710T= (p.Ser904=) c.2890T= (p.Ser964=) | |
| 20 | g.51784411A>C | CA409005851 | SALL4 | c.3016T>G (p.Ser1006Ala) c.685T>G (p.Ser229Ala) c.1705T>G (p.Ser569Ala) c.2710T>G (p.Ser904Ala) c.2890T>G (p.Ser964Ala) | |
| 20 | g.51784411A>G | CA315365909 | SALL4 | c.3016T>C (p.Ser1006Pro) c.685T>C (p.Ser229Pro) c.1705T>C (p.Ser569Pro) c.2710T>C (p.Ser904Pro) c.2890T>C (p.Ser964Pro) | dbSNP gnomAD v4 |
| 20 | g.51784411A>T | CA409005852 | SALL4 | c.3016T>A (p.Ser1006Thr) c.685T>A (p.Ser229Thr) c.1705T>A (p.Ser569Thr) c.2710T>A (p.Ser904Thr) c.2890T>A (p.Ser964Thr) | |
| 20 | g.51784412G>A | CA511025734 | SALL4 | c.3015C>T (p.Thr1005=) c.684C>T (p.Thr228=) c.1704C>T (p.Thr568=) c.2709C>T (p.Thr903=) c.2889C>T (p.Thr963=) | |
| 20 | g.51784412G>C | CA511025737 | SALL4 | c.3015C>G (p.Thr1005=) c.684C>G (p.Thr228=) c.1704C>G (p.Thr568=) c.2709C>G (p.Thr903=) c.2889C>G (p.Thr963=) | |
| 20 | g.51784412G>T | CA511025739 | SALL4 | c.3015C>A (p.Thr1005=) c.684C>A (p.Thr228=) c.1704C>A (p.Thr568=) c.2709C>A (p.Thr903=) c.2889C>A (p.Thr963=) | |
| 20 | g.51784413G>A | CA9911945 | SALL4 | c.3014C>T (p.Thr1005Ile) c.683C>T (p.Thr228Ile) c.1703C>T (p.Thr568Ile) c.2708C>T (p.Thr903Ile) c.2888C>T (p.Thr963Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784413G>C | CA409005853 | SALL4 | c.3014C>G (p.Thr1005Ser) c.683C>G (p.Thr228Ser) c.1703C>G (p.Thr568Ser) c.2708C>G (p.Thr903Ser) c.2888C>G (p.Thr963Ser) | dbSNP |
| 20 | g.51784413G= | CA2369155261 | SALL4 | c.3014C= (p.Thr1005=) c.683C= (p.Thr228=) c.1703C= (p.Thr568=) c.2708C= (p.Thr903=) c.2888C= (p.Thr963=) | |
| 20 | g.51784413G>T | CA409005854 | SALL4 | c.3014C>A (p.Thr1005Asn) c.683C>A (p.Thr228Asn) c.1703C>A (p.Thr568Asn) c.2708C>A (p.Thr903Asn) c.2888C>A (p.Thr963Asn) | gnomAD v4 |
| 20 | g.51784414T>A | CA409005855 | SALL4 | c.3013A>T (p.Thr1005Ser) c.682A>T (p.Thr228Ser) c.1702A>T (p.Thr568Ser) c.2707A>T (p.Thr903Ser) c.2887A>T (p.Thr963Ser) | |
| 20 | g.51784414T>C | CA9911946 | SALL4 | c.3013A>G (p.Thr1005Ala) c.682A>G (p.Thr228Ala) c.1702A>G (p.Thr568Ala) c.2707A>G (p.Thr903Ala) c.2887A>G (p.Thr963Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784414T>G | CA409005856 | SALL4 | c.3013A>C (p.Thr1005Pro) c.682A>C (p.Thr228Pro) c.1702A>C (p.Thr568Pro) c.2707A>C (p.Thr903Pro) c.2887A>C (p.Thr963Pro) | |
| 20 | g.51784414T= | CA2369155262 | SALL4 | c.3013A= (p.Thr1005=) c.682A= (p.Thr228=) c.1702A= (p.Thr568=) c.2707A= (p.Thr903=) c.2887A= (p.Thr963=) | |
| 20 | g.51784415G>A | CA9911947 | SALL4 | c.3012C>T (p.Ala1004=) c.681C>T (p.Ala227=) c.1701C>T (p.Ala567=) c.2706C>T (p.Ala902=) c.2886C>T (p.Ala962=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784415G>C | CA511025744 | SALL4 | c.3012C>G (p.Ala1004=) c.681C>G (p.Ala227=) c.1701C>G (p.Ala567=) c.2706C>G (p.Ala902=) c.2886C>G (p.Ala962=) | |
| 20 | g.51784415G= | CA2369155264 | SALL4 | c.3012C= (p.Ala1004=) c.681C= (p.Ala227=) c.1701C= (p.Ala567=) c.2706C= (p.Ala902=) c.2886C= (p.Ala962=) | |
| 20 | g.51784415G>T | CA511025746 | SALL4 | c.3012C>A (p.Ala1004=) c.681C>A (p.Ala227=) c.1701C>A (p.Ala567=) c.2706C>A (p.Ala902=) c.2886C>A (p.Ala962=) | |
| 20 | g.51784415_51784441dup | CA2369155263 | SALL4 | c.2986_3012dup (p.Ala1004_Thr1005insProThrLeuProValSerLeuGlyAla) c.655_681dup (p.Ala227_Thr228insProThrLeuProValSerLeuGlyAla) c.1675_1701dup (p.Ala567_Thr568insProThrLeuProValSerLeuGlyAla) c.2680_2706dup (p.Ala902_Thr903insProThrLeuProValSerLeuGlyAla) c.2860_2886dup (p.Ala962_Thr963insProThrLeuProValSerLeuGlyAla) | dbSNP |
| 20 | g.51784416G>A | CA315365945 | SALL4 | c.3011C>T (p.Ala1004Val) c.680C>T (p.Ala227Val) c.1700C>T (p.Ala567Val) c.2705C>T (p.Ala902Val) c.2885C>T (p.Ala962Val) | dbSNP gnomAD v4 |
| 20 | g.51784416G>C | CA409005857 | SALL4 | c.3011C>G (p.Ala1004Gly) c.680C>G (p.Ala227Gly) c.1700C>G (p.Ala567Gly) c.2705C>G (p.Ala902Gly) c.2885C>G (p.Ala962Gly) | |
| 20 | g.51784416G= | CA2369155266 | SALL4 | c.3011C= (p.Ala1004=) c.680C= (p.Ala227=) c.1700C= (p.Ala567=) c.2705C= (p.Ala902=) c.2885C= (p.Ala962=) | |
| 20 | g.51784416G>T | CA409005858 | SALL4 | c.3011C>A (p.Ala1004Asp) c.680C>A (p.Ala227Asp) c.1700C>A (p.Ala567Asp) c.2705C>A (p.Ala902Asp) c.2885C>A (p.Ala962Asp) | dbSNP |
| 20 | g.51784416_51784417delinsGC | CA2369155265 | SALL4 | c.3010_3011delinsGC (p.Ala1004=) c.679_680delinsGC (p.Ala227=) c.1699_1700delinsGC (p.Ala567=) c.2704_2705delinsGC (p.Ala902=) c.2884_2885delinsGC (p.Ala962=) | |
| 20 | g.51784417C>A | CA409005861 | SALL4 | c.3010G>T (p.Ala1004Ser) c.679G>T (p.Ala227Ser) c.1699G>T (p.Ala567Ser) c.2704G>T (p.Ala902Ser) c.2884G>T (p.Ala962Ser) | |
| 20 | g.51784417C>G | CA409005860 | SALL4 | c.3010G>C (p.Ala1004Pro) c.679G>C (p.Ala227Pro) c.1699G>C (p.Ala567Pro) c.2704G>C (p.Ala902Pro) c.2884G>C (p.Ala962Pro) | |
| 20 | g.51784417C>T | CA409005859 | SALL4 | c.3010G>A (p.Ala1004Thr) c.679G>A (p.Ala227Thr) c.1699G>A (p.Ala567Thr) c.2704G>A (p.Ala902Thr) c.2884G>A (p.Ala962Thr) | |
| 20 | g.51784421del | CA9911948 | SALL4 | c.3010del (p.Ala1004ProfsTer5) c.679del (p.Ala227ProfsTer5) c.1699del (p.Ala567ProfsTer5) c.2704del (p.Ala902ProfsTer5) c.2884del (p.Ala962ProfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784418C>A | CA511025748 | SALL4 | c.3009G>T (p.Gly1003=) c.678G>T (p.Gly226=) c.1698G>T (p.Gly566=) c.2703G>T (p.Gly901=) c.2883G>T (p.Gly961=) | gnomAD v4 |
| 20 | g.51784418C>G | CA511025751 | SALL4 | c.3009G>C (p.Gly1003=) c.678G>C (p.Gly226=) c.1698G>C (p.Gly566=) c.2703G>C (p.Gly901=) c.2883G>C (p.Gly961=) | |
| 20 | g.51784418C>T | CA511025754 | SALL4 | c.3009G>A (p.Gly1003=) c.678G>A (p.Gly226=) c.1698G>A (p.Gly566=) c.2703G>A (p.Gly901=) c.2883G>A (p.Gly961=) | |
| 20 | g.51784419C>A | CA409005862 | SALL4 | c.3008G>T (p.Gly1003Val) c.677G>T (p.Gly226Val) c.1697G>T (p.Gly566Val) c.2702G>T (p.Gly901Val) c.2882G>T (p.Gly961Val) | |
| 20 | g.51784419C>G | CA409005863 | SALL4 | c.3008G>C (p.Gly1003Ala) c.677G>C (p.Gly226Ala) c.1697G>C (p.Gly566Ala) c.2702G>C (p.Gly901Ala) c.2882G>C (p.Gly961Ala) | |
| 20 | g.51784419C>T | CA409005864 | SALL4 | c.3008G>A (p.Gly1003Glu) c.677G>A (p.Gly226Glu) c.1697G>A (p.Gly566Glu) c.2702G>A (p.Gly901Glu) c.2882G>A (p.Gly961Glu) | |
| 20 | g.51784420C>A | CA409005865 | SALL4 | c.3007G>T (p.Gly1003Trp) c.676G>T (p.Gly226Trp) c.1696G>T (p.Gly566Trp) c.2701G>T (p.Gly901Trp) c.2881G>T (p.Gly961Trp) | |
| 20 | g.51784420C>G | CA409005866 | SALL4 | c.3007G>C (p.Gly1003Arg) c.676G>C (p.Gly226Arg) c.1696G>C (p.Gly566Arg) c.2701G>C (p.Gly901Arg) c.2881G>C (p.Gly961Arg) | |
| 20 | g.51784420C>T | CA409005867 | SALL4 | c.3007G>A (p.Gly1003Arg) c.676G>A (p.Gly226Arg) c.1696G>A (p.Gly566Arg) c.2701G>A (p.Gly901Arg) c.2881G>A (p.Gly961Arg) | gnomAD v4 |
| 20 | g.51784421C>A | CA409005868 | SALL4 | c.3006G>T (p.Leu1002Phe) c.675G>T (p.Leu225Phe) c.1695G>T (p.Leu565Phe) c.2700G>T (p.Leu900Phe) c.2880G>T (p.Leu960Phe) | |
| 20 | g.51784421C>G | CA409005869 | SALL4 | c.3006G>C (p.Leu1002Phe) c.675G>C (p.Leu225Phe) c.1695G>C (p.Leu565Phe) c.2700G>C (p.Leu900Phe) c.2880G>C (p.Leu960Phe) | |
| 20 | g.51784421C>T | CA511025756 | SALL4 | c.3006G>A (p.Leu1002=) c.675G>A (p.Leu225=) c.1695G>A (p.Leu565=) c.2700G>A (p.Leu900=) c.2880G>A (p.Leu960=) | |
| 20 | g.51784422A>C | CA409005870 | SALL4 | c.3005T>G (p.Leu1002Trp) c.674T>G (p.Leu225Trp) c.1694T>G (p.Leu565Trp) c.2699T>G (p.Leu900Trp) c.2879T>G (p.Leu960Trp) | |
| 20 | g.51784422A>G | CA409005871 | SALL4 | c.3005T>C (p.Leu1002Ser) c.674T>C (p.Leu225Ser) c.1694T>C (p.Leu565Ser) c.2699T>C (p.Leu900Ser) c.2879T>C (p.Leu960Ser) | |
| 20 | g.51784422A>T | CA409005872 | SALL4 | c.3005T>A (p.Leu1002Ter) c.674T>A (p.Leu225Ter) c.1694T>A (p.Leu565Ter) c.2699T>A (p.Leu900Ter) c.2879T>A (p.Leu960Ter) | |
| 20 | g.51784423A= | CA2369155267 | SALL4 | c.3004T= (p.Leu1002=) c.673T= (p.Leu225=) c.1693T= (p.Leu565=) c.2698T= (p.Leu900=) c.2878T= (p.Leu960=) | |
| 20 | g.51784423A>C | CA409005873 | SALL4 | c.3004T>G (p.Leu1002Val) c.673T>G (p.Leu225Val) c.1693T>G (p.Leu565Val) c.2698T>G (p.Leu900Val) c.2878T>G (p.Leu960Val) | gnomAD v4 |
| 20 | g.51784423A>G | CA511025761 | SALL4 | c.3004T>C (p.Leu1002=) c.673T>C (p.Leu225=) c.1693T>C (p.Leu565=) c.2698T>C (p.Leu900=) c.2878T>C (p.Leu960=) | |
| 20 | g.51784423A>T | CA9911949 | SALL4 | c.3004T>A (p.Leu1002Met) c.673T>A (p.Leu225Met) c.1693T>A (p.Leu565Met) c.2698T>A (p.Leu900Met) c.2878T>A (p.Leu960Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784424G>A | CA511025763 | SALL4 | c.3003C>T (p.Ser1001=) c.672C>T (p.Ser224=) c.1692C>T (p.Ser564=) c.2697C>T (p.Ser899=) c.2877C>T (p.Ser959=) | |
| 20 | g.51784424G>C | CA511025764 | SALL4 | c.3003C>G (p.Ser1001=) c.672C>G (p.Ser224=) c.1692C>G (p.Ser564=) c.2697C>G (p.Ser899=) c.2877C>G (p.Ser959=) | |
| 20 | g.51784424G>T | CA511025766 | SALL4 | c.3003C>A (p.Ser1001=) c.672C>A (p.Ser224=) c.1692C>A (p.Ser564=) c.2697C>A (p.Ser899=) c.2877C>A (p.Ser959=) | |
| 20 | g.51784425G>A | CA409005874 | SALL4 | c.3002C>T (p.Ser1001Phe) c.671C>T (p.Ser224Phe) c.1691C>T (p.Ser564Phe) c.2696C>T (p.Ser899Phe) c.2876C>T (p.Ser959Phe) | ClinVar COSMIC |
| 20 | g.51784425G>C | CA409005875 | SALL4 | c.3002C>G (p.Ser1001Cys) c.671C>G (p.Ser224Cys) c.1691C>G (p.Ser564Cys) c.2696C>G (p.Ser899Cys) c.2876C>G (p.Ser959Cys) | |
| 20 | g.51784425G>T | CA409005876 | SALL4 | c.3002C>A (p.Ser1001Tyr) c.671C>A (p.Ser224Tyr) c.1691C>A (p.Ser564Tyr) c.2696C>A (p.Ser899Tyr) c.2876C>A (p.Ser959Tyr) | |
| 20 | g.51784426A>C | CA409005877 | SALL4 | c.3001T>G (p.Ser1001Ala) c.670T>G (p.Ser224Ala) c.1690T>G (p.Ser564Ala) c.2695T>G (p.Ser899Ala) c.2875T>G (p.Ser959Ala) | |
| 20 | g.51784426A>G | CA409005878 | SALL4 | c.3001T>C (p.Ser1001Pro) c.670T>C (p.Ser224Pro) c.1690T>C (p.Ser564Pro) c.2695T>C (p.Ser899Pro) c.2875T>C (p.Ser959Pro) | |
| 20 | g.51784426A>T | CA409005879 | SALL4 | c.3001T>A (p.Ser1001Thr) c.670T>A (p.Ser224Thr) c.1690T>A (p.Ser564Thr) c.2695T>A (p.Ser899Thr) c.2875T>A (p.Ser959Thr) | gnomAD v4 |
| 20 | g.51784427A= | CA2369155268 | SALL4 | c.3000T= (p.Val1000=) c.669T= (p.Val223=) c.1689T= (p.Val563=) c.2694T= (p.Val898=) c.2874T= (p.Val958=) | |
| 20 | g.51784427A>C | CA511025770 | SALL4 | c.3000T>G (p.Val1000=) c.669T>G (p.Val223=) c.1689T>G (p.Val563=) c.2694T>G (p.Val898=) c.2874T>G (p.Val958=) | |
| 20 | g.51784427A>G | CA511025772 | SALL4 | c.3000T>C (p.Val1000=) c.669T>C (p.Val223=) c.1689T>C (p.Val563=) c.2694T>C (p.Val898=) c.2874T>C (p.Val958=) | dbSNP |
| 20 | g.51784427A>T | CA511025771 | SALL4 | c.3000T>A (p.Val1000=) c.669T>A (p.Val223=) c.1689T>A (p.Val563=) c.2694T>A (p.Val898=) c.2874T>A (p.Val958=) | |
| 20 | g.51784428A= | CA2369155269 | SALL4 | c.2999T= (p.Val1000=) c.668T= (p.Val223=) c.1688T= (p.Val563=) c.2693T= (p.Val898=) c.2873T= (p.Val958=) | |
| 20 | g.51784428A>C | CA9911950 | SALL4 | c.2999T>G (p.Val1000Gly) c.668T>G (p.Val223Gly) c.1688T>G (p.Val563Gly) c.2693T>G (p.Val898Gly) c.2873T>G (p.Val958Gly) | dbSNP ExAC gnomAD v2 |
| 20 | g.51784428A>G | CA409005880 | SALL4 | c.2999T>C (p.Val1000Ala) c.668T>C (p.Val223Ala) c.1688T>C (p.Val563Ala) c.2693T>C (p.Val898Ala) c.2873T>C (p.Val958Ala) | |
| 20 | g.51784428A>T | CA409005881 | SALL4 | c.2999T>A (p.Val1000Asp) c.668T>A (p.Val223Asp) c.1688T>A (p.Val563Asp) c.2693T>A (p.Val898Asp) c.2873T>A (p.Val958Asp) | |
| 20 | g.51784429C>A | CA409005882 | SALL4 | c.2998G>T (p.Val1000Phe) c.667G>T (p.Val223Phe) c.1687G>T (p.Val563Phe) c.2692G>T (p.Val898Phe) c.2872G>T (p.Val958Phe) | |
| 20 | g.51784429C>G | CA409005883 | SALL4 | c.2998G>C (p.Val1000Leu) c.667G>C (p.Val223Leu) c.1687G>C (p.Val563Leu) c.2692G>C (p.Val898Leu) c.2872G>C (p.Val958Leu) | |
| 20 | g.51784429C>T | CA409005884 | SALL4 | c.2998G>A (p.Val1000Ile) c.667G>A (p.Val223Ile) c.1687G>A (p.Val563Ile) c.2692G>A (p.Val898Ile) c.2872G>A (p.Val958Ile) | |
| 20 | g.51784430del | CA2816661506 | SALL4 | c.2998del (p.Val1000PhefsTer9) c.667del (p.Val223PhefsTer9) c.1687del (p.Val563PhefsTer9) c.2692del (p.Val898PhefsTer9) c.2872del (p.Val958PhefsTer9) | |
| 20 | g.51784430C>A | CA511025775 | SALL4 | c.2997G>T (p.Pro999=) c.666G>T (p.Pro222=) c.1686G>T (p.Pro562=) c.2691G>T (p.Pro897=) c.2871G>T (p.Pro957=) | gnomAD v4 |
| 20 | g.51784430C= | CA2369155270 | SALL4 | c.2997G= (p.Pro999=) c.666G= (p.Pro222=) c.1686G= (p.Pro562=) c.2691G= (p.Pro897=) c.2871G= (p.Pro957=) | |
| 20 | g.51784430C>G | CA511025776 | SALL4 | c.2997G>C (p.Pro999=) c.666G>C (p.Pro222=) c.1686G>C (p.Pro562=) c.2691G>C (p.Pro897=) c.2871G>C (p.Pro957=) | gnomAD v4 |
| 20 | g.51784430C>T | CA9911951 | SALL4 | c.2997G>A (p.Pro999=) c.666G>A (p.Pro222=) c.1686G>A (p.Pro562=) c.2691G>A (p.Pro897=) c.2871G>A (p.Pro957=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784431G>A | CA409005886 | SALL4 | c.2996C>T (p.Pro999Leu) c.665C>T (p.Pro222Leu) c.1685C>T (p.Pro562Leu) c.2690C>T (p.Pro897Leu) c.2870C>T (p.Pro957Leu) | dbSNP gnomAD v4 |
| 20 | g.51784431G>C | CA9911952 | SALL4 | c.2996C>G (p.Pro999Arg) c.665C>G (p.Pro222Arg) c.1685C>G (p.Pro562Arg) c.2690C>G (p.Pro897Arg) c.2870C>G (p.Pro957Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784431G= | CA2369155271 | SALL4 | c.2996C= (p.Pro999=) c.665C= (p.Pro222=) c.1685C= (p.Pro562=) c.2690C= (p.Pro897=) c.2870C= (p.Pro957=) | |
| 20 | g.51784431G>T | CA409005885 | SALL4 | c.2996C>A (p.Pro999Gln) c.665C>A (p.Pro222Gln) c.1685C>A (p.Pro562Gln) c.2690C>A (p.Pro897Gln) c.2870C>A (p.Pro957Gln) | |
| 20 | g.51784432G>A | CA409005887 | SALL4 | c.2995C>T (p.Pro999Ser) c.664C>T (p.Pro222Ser) c.1684C>T (p.Pro562Ser) c.2689C>T (p.Pro897Ser) c.2869C>T (p.Pro957Ser) | |
| 20 | g.51784432G>C | CA409005888 | SALL4 | c.2995C>G (p.Pro999Ala) c.664C>G (p.Pro222Ala) c.1684C>G (p.Pro562Ala) c.2689C>G (p.Pro897Ala) c.2869C>G (p.Pro957Ala) | |
| 20 | g.51784432G>T | CA409005889 | SALL4 | c.2995C>A (p.Pro999Thr) c.664C>A (p.Pro222Thr) c.1684C>A (p.Pro562Thr) c.2689C>A (p.Pro897Thr) c.2869C>A (p.Pro957Thr) | |
| 20 | g.51784433G>A | CA511025779 | SALL4 | c.2994C>T (p.Leu998=) c.663C>T (p.Leu221=) c.1683C>T (p.Leu561=) c.2688C>T (p.Leu896=) c.2868C>T (p.Leu956=) | COSMIC |
| 20 | g.51784433G>C | CA511025780 | SALL4 | c.2994C>G (p.Leu998=) c.663C>G (p.Leu221=) c.1683C>G (p.Leu561=) c.2688C>G (p.Leu896=) c.2868C>G (p.Leu956=) | |
| 20 | g.51784433G>T | CA511025781 | SALL4 | c.2994C>A (p.Leu998=) c.663C>A (p.Leu221=) c.1683C>A (p.Leu561=) c.2688C>A (p.Leu896=) c.2868C>A (p.Leu956=) | gnomAD v4 |
| 20 | g.51784434A>C | CA409005890 | SALL4 | c.2993T>G (p.Leu998Arg) c.662T>G (p.Leu221Arg) c.1682T>G (p.Leu561Arg) c.2687T>G (p.Leu896Arg) c.2867T>G (p.Leu956Arg) | |
| 20 | g.51784434A>G | CA409005891 | SALL4 | c.2993T>C (p.Leu998Pro) c.662T>C (p.Leu221Pro) c.1682T>C (p.Leu561Pro) c.2687T>C (p.Leu896Pro) c.2867T>C (p.Leu956Pro) | |
| 20 | g.51784434A>T | CA409005892 | SALL4 | c.2993T>A (p.Leu998His) c.662T>A (p.Leu221His) c.1682T>A (p.Leu561His) c.2687T>A (p.Leu896His) c.2867T>A (p.Leu956His) | |
| 20 | g.51784435G>A | CA409005893 | SALL4 | c.2992C>T (p.Leu998Phe) c.661C>T (p.Leu221Phe) c.1681C>T (p.Leu561Phe) c.2686C>T (p.Leu896Phe) c.2866C>T (p.Leu956Phe) | dbSNP gnomAD v2 |
| 20 | g.51784435G>C | CA409005894 | SALL4 | c.2992C>G (p.Leu998Val) c.661C>G (p.Leu221Val) c.1681C>G (p.Leu561Val) c.2686C>G (p.Leu896Val) c.2866C>G (p.Leu956Val) | |
| 20 | g.51784435G= | CA2369155272 | SALL4 | c.2992C= (p.Leu998=) c.661C= (p.Leu221=) c.1681C= (p.Leu561=) c.2686C= (p.Leu896=) c.2866C= (p.Leu956=) | |
| 20 | g.51784435G>T | CA409005895 | SALL4 | c.2992C>A (p.Leu998Ile) c.661C>A (p.Leu221Ile) c.1681C>A (p.Leu561Ile) c.2686C>A (p.Leu896Ile) c.2866C>A (p.Leu956Ile) | gnomAD v4 |
| 20 | g.51784437del | CA2577428505 | SALL4 | c.2992del (p.Leu998SerfsTer11) c.661del (p.Leu221SerfsTer11) c.1681del (p.Leu561SerfsTer11) c.2686del (p.Leu896SerfsTer11) c.2866del (p.Leu956SerfsTer11) | gnomAD v4 |
| 20 | g.51784436G>A | CA511025789 | SALL4 | c.2991C>T (p.Thr997=) c.660C>T (p.Thr220=) c.1680C>T (p.Thr560=) c.2685C>T (p.Thr895=) c.2865C>T (p.Thr955=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784436G>C | CA511025790 | SALL4 | c.2991C>G (p.Thr997=) c.660C>G (p.Thr220=) c.1680C>G (p.Thr560=) c.2685C>G (p.Thr895=) c.2865C>G (p.Thr955=) | |
| 20 | g.51784436G= | CA2369155273 | SALL4 | c.2991C= (p.Thr997=) c.660C= (p.Thr220=) c.1680C= (p.Thr560=) c.2685C= (p.Thr895=) c.2865C= (p.Thr955=) | |
| 20 | g.51784436G>T | CA511025786 | SALL4 | c.2991C>A (p.Thr997=) c.660C>A (p.Thr220=) c.1680C>A (p.Thr560=) c.2685C>A (p.Thr895=) c.2865C>A (p.Thr955=) | |
| 20 | g.51784437G>A | CA409005896 | SALL4 | c.2990C>T (p.Thr997Ile) c.659C>T (p.Thr220Ile) c.1679C>T (p.Thr560Ile) c.2684C>T (p.Thr895Ile) c.2864C>T (p.Thr955Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784437G>C | CA409005897 | SALL4 | c.2990C>G (p.Thr997Ser) c.659C>G (p.Thr220Ser) c.1679C>G (p.Thr560Ser) c.2684C>G (p.Thr895Ser) c.2864C>G (p.Thr955Ser) | |
| 20 | g.51784437G= | CA2369155274 | SALL4 | c.2990C= (p.Thr997=) c.659C= (p.Thr220=) c.1679C= (p.Thr560=) c.2684C= (p.Thr895=) c.2864C= (p.Thr955=) | |
| 20 | g.51784437G>T | CA409005898 | SALL4 | c.2990C>A (p.Thr997Asn) c.659C>A (p.Thr220Asn) c.1679C>A (p.Thr560Asn) c.2684C>A (p.Thr895Asn) c.2864C>A (p.Thr955Asn) | |
| 20 | g.51784438T>A | CA409005900 | SALL4 | c.2989A>T (p.Thr997Ser) c.658A>T (p.Thr220Ser) c.1678A>T (p.Thr560Ser) c.2683A>T (p.Thr895Ser) c.2863A>T (p.Thr955Ser) | |
| 20 | g.51784438T>C | CA409005901 | SALL4 | c.2989A>G (p.Thr997Ala) c.658A>G (p.Thr220Ala) c.1678A>G (p.Thr560Ala) c.2683A>G (p.Thr895Ala) c.2863A>G (p.Thr955Ala) | |
| 20 | g.51784438T>G | CA409005899 | SALL4 | c.2989A>C (p.Thr997Pro) c.658A>C (p.Thr220Pro) c.1678A>C (p.Thr560Pro) c.2683A>C (p.Thr895Pro) c.2863A>C (p.Thr955Pro) | |
| 20 | g.51784439A>C | CA511025791 | SALL4 | c.2988T>G (p.Pro996=) c.657T>G (p.Pro219=) c.1677T>G (p.Pro559=) c.2682T>G (p.Pro894=) c.2862T>G (p.Pro954=) | |
| 20 | g.51784439A>G | CA511025792 | SALL4 | c.2988T>C (p.Pro996=) c.657T>C (p.Pro219=) c.1677T>C (p.Pro559=) c.2682T>C (p.Pro894=) c.2862T>C (p.Pro954=) | |
| 20 | g.51784439A>T | CA511025793 | SALL4 | c.2988T>A (p.Pro996=) c.657T>A (p.Pro219=) c.1677T>A (p.Pro559=) c.2682T>A (p.Pro894=) c.2862T>A (p.Pro954=) | |
| 20 | g.51784440G>A | CA409005904 | SALL4 | c.2987C>T (p.Pro996Leu) c.656C>T (p.Pro219Leu) c.1676C>T (p.Pro559Leu) c.2681C>T (p.Pro894Leu) c.2861C>T (p.Pro954Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784440G>C | CA409005902 | SALL4 | c.2987C>G (p.Pro996Arg) c.656C>G (p.Pro219Arg) c.1676C>G (p.Pro559Arg) c.2681C>G (p.Pro894Arg) c.2861C>G (p.Pro954Arg) | |
| 20 | g.51784440G= | CA2369155275 | SALL4 | c.2987C= (p.Pro996=) c.656C= (p.Pro219=) c.1676C= (p.Pro559=) c.2681C= (p.Pro894=) c.2861C= (p.Pro954=) | |
| 20 | g.51784440G>T | CA409005903 | SALL4 | c.2987C>A (p.Pro996His) c.656C>A (p.Pro219His) c.1676C>A (p.Pro559His) c.2681C>A (p.Pro894His) c.2861C>A (p.Pro954His) | |
| 20 | g.51784441G>A | CA409005905 | SALL4 | c.2986C>T (p.Pro996Ser) c.655C>T (p.Pro219Ser) c.1675C>T (p.Pro559Ser) c.2680C>T (p.Pro894Ser) c.2860C>T (p.Pro954Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.51784441G>C | CA409005906 | SALL4 | c.2986C>G (p.Pro996Ala) c.655C>G (p.Pro219Ala) c.1675C>G (p.Pro559Ala) c.2680C>G (p.Pro894Ala) c.2860C>G (p.Pro954Ala) | |
| 20 | g.51784441G= | CA2369155276 | SALL4 | c.2986C= (p.Pro996=) c.655C= (p.Pro219=) c.1675C= (p.Pro559=) c.2680C= (p.Pro894=) c.2860C= (p.Pro954=) | |
| 20 | g.51784441G>T | CA409005907 | SALL4 | c.2986C>A (p.Pro996Thr) c.655C>A (p.Pro219Thr) c.1675C>A (p.Pro559Thr) c.2680C>A (p.Pro894Thr) c.2860C>A (p.Pro954Thr) | |
| 20 | g.51784441_51784442insT | CA645610834 | SALL4 | c.2985_2986insA (p.Pro996ThrfsTer15) c.654_655insA (p.Pro219ThrfsTer15) c.1674_1675insA (p.Pro559ThrfsTer15) c.2679_2680insA (p.Pro894ThrfsTer15) c.2859_2860insA (p.Pro954ThrfsTer15) | COSMIC |
| 20 | g.51784442A>C | CA511025797 | SALL4 | c.2985T>G (p.Val995=) c.654T>G (p.Val218=) c.1674T>G (p.Val558=) c.2679T>G (p.Val893=) c.2859T>G (p.Val953=) | |
| 20 | g.51784442A>G | CA511025798 | SALL4 | c.2985T>C (p.Val995=) c.654T>C (p.Val218=) c.1674T>C (p.Val558=) c.2679T>C (p.Val893=) c.2859T>C (p.Val953=) | |
| 20 | g.51784442A>T | CA511025799 | SALL4 | c.2985T>A (p.Val995=) c.654T>A (p.Val218=) c.1674T>A (p.Val558=) c.2679T>A (p.Val893=) c.2859T>A (p.Val953=) | |
| 20 | g.51784443dup | CA511025800 | SALL4 | c.2985dup (p.Pro996SerfsTer15) c.654dup (p.Pro219SerfsTer15) c.1674dup (p.Pro559SerfsTer15) c.2679dup (p.Pro894SerfsTer15) c.2859dup (p.Pro954SerfsTer15) | |
| 20 | g.51784443A= | CA2369155278 | SALL4 | c.2984T= (p.Val995=) c.653T= (p.Val218=) c.1673T= (p.Val558=) c.2678T= (p.Val893=) c.2858T= (p.Val953=) | |
| 20 | g.51784443A>C | CA409005910 | SALL4 | c.2984T>G (p.Val995Gly) c.653T>G (p.Val218Gly) c.1673T>G (p.Val558Gly) c.2678T>G (p.Val893Gly) c.2858T>G (p.Val953Gly) | ClinVar dbSNP COSMIC |
| 20 | g.51784443A>G | CA409005909 | SALL4 | c.2984T>C (p.Val995Ala) c.653T>C (p.Val218Ala) c.1673T>C (p.Val558Ala) c.2678T>C (p.Val893Ala) c.2858T>C (p.Val953Ala) | |
| 20 | g.51784443A>T | CA409005908 | SALL4 | c.2984T>A (p.Val995Asp) c.653T>A (p.Val218Asp) c.1673T>A (p.Val558Asp) c.2678T>A (p.Val893Asp) c.2858T>A (p.Val953Asp) | |
| 20 | g.51784443_51784444delinsAC | CA2369155277 | SALL4 | c.2983_2984delinsGT (p.Val995=) c.652_653delinsGT (p.Val218=) c.1672_1673delinsGT (p.Val558=) c.2677_2678delinsGT (p.Val893=) c.2857_2858delinsGT (p.Val953=) | |
| 20 | g.51784444C>A | CA409005911 | SALL4 | c.2983G>T (p.Val995Phe) c.652G>T (p.Val218Phe) c.1672G>T (p.Val558Phe) c.2677G>T (p.Val893Phe) c.2857G>T (p.Val953Phe) | |
| 20 | g.51784444C= | CA2369155279 | SALL4 | c.2983G= (p.Val995=) c.652G= (p.Val218=) c.1672G= (p.Val558=) c.2677G= (p.Val893=) c.2857G= (p.Val953=) | |
| 20 | g.51784444C>G | CA409005912 | SALL4 | c.2983G>C (p.Val995Leu) c.652G>C (p.Val218Leu) c.1672G>C (p.Val558Leu) c.2677G>C (p.Val893Leu) c.2857G>C (p.Val953Leu) | gnomAD v4 |
| 20 | g.51784444C>T | CA409005913 | SALL4 | c.2983G>A (p.Val995Ile) c.652G>A (p.Val218Ile) c.1672G>A (p.Val558Ile) c.2677G>A (p.Val893Ile) c.2857G>A (p.Val953Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784450dup | CA9911953 | SALL4 | c.2983dup (p.Val995GlyfsTer16) c.652dup (p.Val218GlyfsTer16) c.1672dup (p.Val558GlyfsTer16) c.2677dup (p.Val893GlyfsTer16) c.2857dup (p.Val953GlyfsTer16) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.51784449_51784450dup | CA2816661507 | SALL4 | c.2982_2983dup (p.Val995GlyfsTer15) c.651_652dup (p.Val218GlyfsTer15) c.1671_1672dup (p.Val558GlyfsTer15) c.2676_2677dup (p.Val893GlyfsTer15) c.2856_2857dup (p.Val953GlyfsTer15) | |
| 20 | g.51784450del | CA9911954 | SALL4 | c.2983del (p.Val995PhefsTer14) c.652del (p.Val218PhefsTer14) c.1672del (p.Val558PhefsTer14) c.2677del (p.Val893PhefsTer14) c.2857del (p.Val953PhefsTer14) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.51784445C>A | CA9911955 | SALL4 | c.2982G>T (p.Gly994=) c.651G>T (p.Gly217=) c.1671G>T (p.Gly557=) c.2676G>T (p.Gly892=) c.2856G>T (p.Gly952=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784445C= | CA2369155280 | SALL4 | c.2982G= (p.Gly994=) c.651G= (p.Gly217=) c.1671G= (p.Gly557=) c.2676G= (p.Gly892=) c.2856G= (p.Gly952=) | |
| 20 | g.51784445C>G | CA511025804 | SALL4 | c.2982G>C (p.Gly994=) c.651G>C (p.Gly217=) c.1671G>C (p.Gly557=) c.2676G>C (p.Gly892=) c.2856G>C (p.Gly952=) | gnomAD v4 |
| 20 | g.51784445C>T | CA511025803 | SALL4 | c.2982G>A (p.Gly994=) c.651G>A (p.Gly217=) c.1671G>A (p.Gly557=) c.2676G>A (p.Gly892=) c.2856G>A (p.Gly952=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784446C>A | CA409005916 | SALL4 | c.2981G>T (p.Gly994Val) c.650G>T (p.Gly217Val) c.1670G>T (p.Gly557Val) c.2675G>T (p.Gly892Val) c.2855G>T (p.Gly952Val) | gnomAD v4 |
| 20 | g.51784446C>G | CA409005914 | SALL4 | c.2981G>C (p.Gly994Ala) c.650G>C (p.Gly217Ala) c.1670G>C (p.Gly557Ala) c.2675G>C (p.Gly892Ala) c.2855G>C (p.Gly952Ala) | |
| 20 | g.51784446C>T | CA409005915 | SALL4 | c.2981G>A (p.Gly994Glu) c.650G>A (p.Gly217Glu) c.1670G>A (p.Gly557Glu) c.2675G>A (p.Gly892Glu) c.2855G>A (p.Gly952Glu) | |
| 20 | g.51784447C>A | CA409005917 | SALL4 | c.2980G>T (p.Gly994Trp) c.649G>T (p.Gly217Trp) c.1669G>T (p.Gly557Trp) c.2674G>T (p.Gly892Trp) c.2854G>T (p.Gly952Trp) | |
| 20 | g.51784447C= | CA2369155281 | SALL4 | c.2980G= (p.Gly994=) c.649G= (p.Gly217=) c.1669G= (p.Gly557=) c.2674G= (p.Gly892=) c.2854G= (p.Gly952=) | |
| 20 | g.51784447C>G | CA409005918 | SALL4 | c.2980G>C (p.Gly994Arg) c.649G>C (p.Gly217Arg) c.1669G>C (p.Gly557Arg) c.2674G>C (p.Gly892Arg) c.2854G>C (p.Gly952Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784447C>T | CA409005919 | SALL4 | c.2980G>A (p.Gly994Arg) c.649G>A (p.Gly217Arg) c.1669G>A (p.Gly557Arg) c.2674G>A (p.Gly892Arg) c.2854G>A (p.Gly952Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784448C>A | CA9911956 | SALL4 | c.2979G>T (p.Gly993=) c.648G>T (p.Gly216=) c.1668G>T (p.Gly556=) c.2673G>T (p.Gly891=) c.2853G>T (p.Gly951=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784448C= | CA2369155282 | SALL4 | c.2979G= (p.Gly993=) c.648G= (p.Gly216=) c.1668G= (p.Gly556=) c.2673G= (p.Gly891=) c.2853G= (p.Gly951=) | |
| 20 | g.51784448C>G | CA511025807 | SALL4 | c.2979G>C (p.Gly993=) c.648G>C (p.Gly216=) c.1668G>C (p.Gly556=) c.2673G>C (p.Gly891=) c.2853G>C (p.Gly951=) | |
| 20 | g.51784448C>T | CA511025808 | SALL4 | c.2979G>A (p.Gly993=) c.648G>A (p.Gly216=) c.1668G>A (p.Gly556=) c.2673G>A (p.Gly891=) c.2853G>A (p.Gly951=) | |
| 20 | g.51784449C>A | CA409005920 | SALL4 | c.2978G>T (p.Gly993Val) c.647G>T (p.Gly216Val) c.1667G>T (p.Gly556Val) c.2672G>T (p.Gly891Val) c.2852G>T (p.Gly951Val) | |
| 20 | g.51784449C= | CA2369155283 | SALL4 | c.2978G= (p.Gly993=) c.647G= (p.Gly216=) c.1667G= (p.Gly556=) c.2672G= (p.Gly891=) c.2852G= (p.Gly951=) | |
| 20 | g.51784449C>G | CA409005921 | SALL4 | c.2978G>C (p.Gly993Ala) c.647G>C (p.Gly216Ala) c.1667G>C (p.Gly556Ala) c.2672G>C (p.Gly891Ala) c.2852G>C (p.Gly951Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784449C>T | CA409005922 | SALL4 | c.2978G>A (p.Gly993Glu) c.647G>A (p.Gly216Glu) c.1667G>A (p.Gly556Glu) c.2672G>A (p.Gly891Glu) c.2852G>A (p.Gly951Glu) | gnomAD v4 |
| 20 | g.51784450C>A | CA9911957 | SALL4 | c.2977G>T (p.Gly993Trp) c.646G>T (p.Gly216Trp) c.1666G>T (p.Gly556Trp) c.2671G>T (p.Gly891Trp) c.2851G>T (p.Gly951Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784450C= | CA2369155284 | SALL4 | c.2977G= (p.Gly993=) c.646G= (p.Gly216=) c.1666G= (p.Gly556=) c.2671G= (p.Gly891=) c.2851G= (p.Gly951=) | |
| 20 | g.51784450C>G | CA9911958 | SALL4 | c.2977G>C (p.Gly993Arg) c.646G>C (p.Gly216Arg) c.1666G>C (p.Gly556Arg) c.2671G>C (p.Gly891Arg) c.2851G>C (p.Gly951Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784450C>T | CA245393 | SALL4 | c.2977G>A (p.Gly993Arg) c.646G>A (p.Gly216Arg) c.1666G>A (p.Gly556Arg) c.2671G>A (p.Gly891Arg) c.2851G>A (p.Gly951Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784451A= | CA2369155285 | SALL4 | c.2976T= (p.Ser992=) c.645T= (p.Ser215=) c.1665T= (p.Ser555=) c.2670T= (p.Ser890=) c.2850T= (p.Ser950=) | |
| 20 | g.51784451A>C | CA409005923 | SALL4 | c.2976T>G (p.Ser992Arg) c.645T>G (p.Ser215Arg) c.1665T>G (p.Ser555Arg) c.2670T>G (p.Ser890Arg) c.2850T>G (p.Ser950Arg) | dbSNP gnomAD v2 |
| 20 | g.51784451A>G | CA511025812 | SALL4 | c.2976T>C (p.Ser992=) c.645T>C (p.Ser215=) c.1665T>C (p.Ser555=) c.2670T>C (p.Ser890=) c.2850T>C (p.Ser950=) | COSMIC |
| 20 | g.51784451A>T | CA409005924 | SALL4 | c.2976T>A (p.Ser992Arg) c.645T>A (p.Ser215Arg) c.1665T>A (p.Ser555Arg) c.2670T>A (p.Ser890Arg) c.2850T>A (p.Ser950Arg) | |
| 20 | g.51784452C>A | CA409005925 | SALL4 | c.2975G>T (p.Ser992Ile) c.644G>T (p.Ser215Ile) c.1664G>T (p.Ser555Ile) c.2669G>T (p.Ser890Ile) c.2849G>T (p.Ser950Ile) | gnomAD v4 |
| 20 | g.51784452C>G | CA409005927 | SALL4 | c.2975G>C (p.Ser992Thr) c.644G>C (p.Ser215Thr) c.1664G>C (p.Ser555Thr) c.2669G>C (p.Ser890Thr) c.2849G>C (p.Ser950Thr) | |
| 20 | g.51784452C>T | CA409005926 | SALL4 | c.2975G>A (p.Ser992Asn) c.644G>A (p.Ser215Asn) c.1664G>A (p.Ser555Asn) c.2669G>A (p.Ser890Asn) c.2849G>A (p.Ser950Asn) | |
| 20 | g.51784453T>A | CA409005928 | SALL4 | c.2974A>T (p.Ser992Cys) c.643A>T (p.Ser215Cys) c.1663A>T (p.Ser555Cys) c.2668A>T (p.Ser890Cys) c.2848A>T (p.Ser950Cys) | |
| 20 | g.51784453T>C | CA9911959 | SALL4 | c.2974A>G (p.Ser992Gly) c.643A>G (p.Ser215Gly) c.1663A>G (p.Ser555Gly) c.2668A>G (p.Ser890Gly) c.2848A>G (p.Ser950Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784453T>G | CA409005929 | SALL4 | c.2974A>C (p.Ser992Arg) c.643A>C (p.Ser215Arg) c.1663A>C (p.Ser555Arg) c.2668A>C (p.Ser890Arg) c.2848A>C (p.Ser950Arg) | COSMIC |
| 20 | g.51784453T= | CA2369155286 | SALL4 | c.2974A= (p.Ser992=) c.643A= (p.Ser215=) c.1663A= (p.Ser555=) c.2668A= (p.Ser890=) c.2848A= (p.Ser950=) | |
| 20 | g.51784454C>A | CA409005930 | SALL4 | c.2973G>T (p.Gln991His) c.642G>T (p.Gln214His) c.1662G>T (p.Gln554His) c.2667G>T (p.Gln889His) c.2847G>T (p.Gln949His) | |
| 20 | g.51784454C= | CA2369155287 | SALL4 | c.2973G= (p.Gln991=) c.642G= (p.Gln214=) c.1662G= (p.Gln554=) c.2667G= (p.Gln889=) c.2847G= (p.Gln949=) | |
| 20 | g.51784454C>G | CA409005931 | SALL4 | c.2973G>C (p.Gln991His) c.642G>C (p.Gln214His) c.1662G>C (p.Gln554His) c.2667G>C (p.Gln889His) c.2847G>C (p.Gln949His) | |
| 20 | g.51784454C>T | CA511025817 | SALL4 | c.2973G>A (p.Gln991=) c.642G>A (p.Gln214=) c.1662G>A (p.Gln554=) c.2667G>A (p.Gln889=) c.2847G>A (p.Gln949=) | dbSNP |
| 20 | g.51784455T>A | CA409005932 | SALL4 | c.2972A>T (p.Gln991Leu) c.641A>T (p.Gln214Leu) c.1661A>T (p.Gln554Leu) c.2666A>T (p.Gln889Leu) c.2846A>T (p.Gln949Leu) | |
| 20 | g.51784455T>C | CA409005933 | SALL4 | c.2972A>G (p.Gln991Arg) c.641A>G (p.Gln214Arg) c.1661A>G (p.Gln554Arg) c.2666A>G (p.Gln889Arg) c.2846A>G (p.Gln949Arg) | |
| 20 | g.51784455T>G | CA409005934 | SALL4 | c.2972A>C (p.Gln991Pro) c.641A>C (p.Gln214Pro) c.1661A>C (p.Gln554Pro) c.2666A>C (p.Gln889Pro) c.2846A>C (p.Gln949Pro) | |
| 20 | g.51784456G>A | CA409005935 | SALL4 | c.2971C>T (p.Gln991Ter) c.640C>T (p.Gln214Ter) c.1660C>T (p.Gln554Ter) c.2665C>T (p.Gln889Ter) c.2845C>T (p.Gln949Ter) | |
| 20 | g.51784456G>C | CA409005936 | SALL4 | c.2971C>G (p.Gln991Glu) c.640C>G (p.Gln214Glu) c.1660C>G (p.Gln554Glu) c.2665C>G (p.Gln889Glu) c.2845C>G (p.Gln949Glu) | |
| 20 | g.51784456G>T | CA409005937 | SALL4 | c.2971C>A (p.Gln991Lys) c.640C>A (p.Gln214Lys) c.1660C>A (p.Gln554Lys) c.2665C>A (p.Gln889Lys) c.2845C>A (p.Gln949Lys) | |
| 20 | g.51784457G>A | CA511025823 | SALL4 | c.2970C>T (p.Ile990=) c.639C>T (p.Ile213=) c.1659C>T (p.Ile553=) c.2664C>T (p.Ile888=) c.2844C>T (p.Ile948=) | |
| 20 | g.51784457G>C | CA409005938 | SALL4 | c.2970C>G (p.Ile990Met) c.639C>G (p.Ile213Met) c.1659C>G (p.Ile553Met) c.2664C>G (p.Ile888Met) c.2844C>G (p.Ile948Met) | |
| 20 | g.51784457G>T | CA511025822 | SALL4 | c.2970C>A (p.Ile990=) c.639C>A (p.Ile213=) c.1659C>A (p.Ile553=) c.2664C>A (p.Ile888=) c.2844C>A (p.Ile948=) | gnomAD v4 |
| 20 | g.51784458A>C | CA409005941 | SALL4 | c.2969T>G (p.Ile990Ser) c.638T>G (p.Ile213Ser) c.1658T>G (p.Ile553Ser) c.2663T>G (p.Ile888Ser) c.2843T>G (p.Ile948Ser) | |
| 20 | g.51784458A>G | CA409005939 | SALL4 | c.2969T>C (p.Ile990Thr) c.638T>C (p.Ile213Thr) c.1658T>C (p.Ile553Thr) c.2663T>C (p.Ile888Thr) c.2843T>C (p.Ile948Thr) | |
| 20 | g.51784458A>T | CA409005940 | SALL4 | c.2969T>A (p.Ile990Asn) c.638T>A (p.Ile213Asn) c.1658T>A (p.Ile553Asn) c.2663T>A (p.Ile888Asn) c.2843T>A (p.Ile948Asn) | |
| 20 | g.51784459T>A | CA409005942 | SALL4 | c.2968A>T (p.Ile990Phe) c.637A>T (p.Ile213Phe) c.1657A>T (p.Ile553Phe) c.2662A>T (p.Ile888Phe) c.2842A>T (p.Ile948Phe) | |
| 20 | g.51784459T>C | CA409005943 | SALL4 | c.2968A>G (p.Ile990Val) c.637A>G (p.Ile213Val) c.1657A>G (p.Ile553Val) c.2662A>G (p.Ile888Val) c.2842A>G (p.Ile948Val) | gnomAD v4 |
| 20 | g.51784459T>G | CA409005944 | SALL4 | c.2968A>C (p.Ile990Leu) c.637A>C (p.Ile213Leu) c.1657A>C (p.Ile553Leu) c.2662A>C (p.Ile888Leu) c.2842A>C (p.Ile948Leu) | |
| 20 | g.51784460C>A | CA511025824 | SALL4 | c.2967G>T (p.Val989=) c.636G>T (p.Val212=) c.1656G>T (p.Val552=) c.2661G>T (p.Val887=) c.2841G>T (p.Val947=) | COSMIC |
| 20 | g.51784460C>G | CA511025825 | SALL4 | c.2967G>C (p.Val989=) c.636G>C (p.Val212=) c.1656G>C (p.Val552=) c.2661G>C (p.Val887=) c.2841G>C (p.Val947=) | |
| 20 | g.51784460C>T | CA511025826 | SALL4 | c.2967G>A (p.Val989=) c.636G>A (p.Val212=) c.1656G>A (p.Val552=) c.2661G>A (p.Val887=) c.2841G>A (p.Val947=) | gnomAD v4 |
| 20 | g.51784461A>C | CA409005945 | SALL4 | c.2966T>G (p.Val989Gly) c.635T>G (p.Val212Gly) c.1655T>G (p.Val552Gly) c.2660T>G (p.Val887Gly) c.2840T>G (p.Val947Gly) | |
| 20 | g.51784461A>G | CA409005946 | SALL4 | c.2966T>C (p.Val989Ala) c.635T>C (p.Val212Ala) c.1655T>C (p.Val552Ala) c.2660T>C (p.Val887Ala) c.2840T>C (p.Val947Ala) | |
| 20 | g.51784461A>T | CA409005947 | SALL4 | c.2966T>A (p.Val989Glu) c.635T>A (p.Val212Glu) c.1655T>A (p.Val552Glu) c.2660T>A (p.Val887Glu) c.2840T>A (p.Val947Glu) | |
| 20 | g.51784462C>A | CA409005948 | SALL4 | c.2965G>T (p.Val989Leu) c.634G>T (p.Val212Leu) c.1654G>T (p.Val552Leu) c.2659G>T (p.Val887Leu) c.2839G>T (p.Val947Leu) | |
| 20 | g.51784462C>G | CA409005949 | SALL4 | c.2965G>C (p.Val989Leu) c.634G>C (p.Val212Leu) c.1654G>C (p.Val552Leu) c.2659G>C (p.Val887Leu) c.2839G>C (p.Val947Leu) | |
| 20 | g.51784462C>T | CA409005950 | SALL4 | c.2965G>A (p.Val989Met) c.634G>A (p.Val212Met) c.1654G>A (p.Val552Met) c.2659G>A (p.Val887Met) c.2839G>A (p.Val947Met) | |
| 20 | g.51784463A>C | CA511025827 | SALL4 | c.2964T>G (p.Ser988=) c.633T>G (p.Ser211=) c.1653T>G (p.Ser551=) c.2658T>G (p.Ser886=) c.2838T>G (p.Ser946=) | |
| 20 | g.51784463A>G | CA511025828 | SALL4 | c.2964T>C (p.Ser988=) c.633T>C (p.Ser211=) c.1653T>C (p.Ser551=) c.2658T>C (p.Ser886=) c.2838T>C (p.Ser946=) | |
| 20 | g.51784463A>T | CA511025830 | SALL4 | c.2964T>A (p.Ser988=) c.633T>A (p.Ser211=) c.1653T>A (p.Ser551=) c.2658T>A (p.Ser886=) c.2838T>A (p.Ser946=) | |
| 20 | g.51784464G>A | CA409005951 | SALL4 | c.2963C>T (p.Ser988Phe) c.632C>T (p.Ser211Phe) c.1652C>T (p.Ser551Phe) c.2657C>T (p.Ser886Phe) c.2837C>T (p.Ser946Phe) | |
| 20 | g.51784464G>C | CA409005952 | SALL4 | c.2963C>G (p.Ser988Cys) c.632C>G (p.Ser211Cys) c.1652C>G (p.Ser551Cys) c.2657C>G (p.Ser886Cys) c.2837C>G (p.Ser946Cys) | |
| 20 | g.51784464G= | CA2369155288 | SALL4 | c.2963C= (p.Ser988=) c.632C= (p.Ser211=) c.1652C= (p.Ser551=) c.2657C= (p.Ser886=) c.2837C= (p.Ser946=) | |
| 20 | g.51784464G>T | CA9911960 | SALL4 | c.2963C>A (p.Ser988Tyr) c.632C>A (p.Ser211Tyr) c.1652C>A (p.Ser551Tyr) c.2657C>A (p.Ser886Tyr) c.2837C>A (p.Ser946Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784465A>C | CA409005954 | SALL4 | c.2962T>G (p.Ser988Ala) c.631T>G (p.Ser211Ala) c.1651T>G (p.Ser551Ala) c.2656T>G (p.Ser886Ala) c.2836T>G (p.Ser946Ala) | |
| 20 | g.51784465A>G | CA409005955 | SALL4 | c.2962T>C (p.Ser988Pro) c.631T>C (p.Ser211Pro) c.1651T>C (p.Ser551Pro) c.2656T>C (p.Ser886Pro) c.2836T>C (p.Ser946Pro) | |
| 20 | g.51784465A>T | CA409005953 | SALL4 | c.2962T>A (p.Ser988Thr) c.631T>A (p.Ser211Thr) c.1651T>A (p.Ser551Thr) c.2656T>A (p.Ser886Thr) c.2836T>A (p.Ser946Thr) | |
| 20 | g.51784466G>A | CA511025836 | SALL4 | c.2961C>T (p.Ile987=) c.630C>T (p.Ile210=) c.1650C>T (p.Ile550=) c.2655C>T (p.Ile885=) c.2835C>T (p.Ile945=) | |
| 20 | g.51784466G>C | CA409005956 | SALL4 | c.2961C>G (p.Ile987Met) c.630C>G (p.Ile210Met) c.1650C>G (p.Ile550Met) c.2655C>G (p.Ile885Met) c.2835C>G (p.Ile945Met) | gnomAD v4 |
| 20 | g.51784466G= | CA2369155289 | SALL4 | c.2961C= (p.Ile987=) c.630C= (p.Ile210=) c.1650C= (p.Ile550=) c.2655C= (p.Ile885=) c.2835C= (p.Ile945=) | |
| 20 | g.51784466G>T | CA511025837 | SALL4 | c.2961C>A (p.Ile987=) c.630C>A (p.Ile210=) c.1650C>A (p.Ile550=) c.2655C>A (p.Ile885=) c.2835C>A (p.Ile945=) | dbSNP |
| 20 | g.51784466_51784467insT | CA2816661508 | SALL4 | c.2960_2961insA (p.Ser988LeufsTer23) c.629_630insA (p.Ser211LeufsTer23) c.1649_1650insA (p.Ser551LeufsTer23) c.2654_2655insA (p.Ser886LeufsTer23) c.2834_2835insA (p.Ser946LeufsTer23) | |
| 20 | g.51784467A>C | CA409005957 | SALL4 | c.2960T>G (p.Ile987Ser) c.629T>G (p.Ile210Ser) c.1649T>G (p.Ile550Ser) c.2654T>G (p.Ile885Ser) c.2834T>G (p.Ile945Ser) | |
| 20 | g.51784467A>G | CA409005958 | SALL4 | c.2960T>C (p.Ile987Thr) c.629T>C (p.Ile210Thr) c.1649T>C (p.Ile550Thr) c.2654T>C (p.Ile885Thr) c.2834T>C (p.Ile945Thr) | |
| 20 | g.51784467A>T | CA409005959 | SALL4 | c.2960T>A (p.Ile987Asn) c.629T>A (p.Ile210Asn) c.1649T>A (p.Ile550Asn) c.2654T>A (p.Ile885Asn) c.2834T>A (p.Ile945Asn) | |
| 20 | g.51784468T>A | CA409005960 | SALL4 | c.2959A>T (p.Ile987Phe) c.628A>T (p.Ile210Phe) c.1648A>T (p.Ile550Phe) c.2653A>T (p.Ile885Phe) c.2833A>T (p.Ile945Phe) | |
| 20 | g.51784468T>C | CA409005961 | SALL4 | c.2959A>G (p.Ile987Val) c.628A>G (p.Ile210Val) c.1648A>G (p.Ile550Val) c.2653A>G (p.Ile885Val) c.2833A>G (p.Ile945Val) | |
| 20 | g.51784468T>G | CA409005962 | SALL4 | c.2959A>C (p.Ile987Leu) c.628A>C (p.Ile210Leu) c.1648A>C (p.Ile550Leu) c.2653A>C (p.Ile885Leu) c.2833A>C (p.Ile945Leu) | |
| 20 | g.51784469C>A | CA409005963 | SALL4 | c.2958G>T (p.Glu986Asp) c.627G>T (p.Glu209Asp) c.1647G>T (p.Glu549Asp) c.2652G>T (p.Glu884Asp) c.2832G>T (p.Glu944Asp) | dbSNP |
| 20 | g.51784469C= | CA2369155290 | SALL4 | c.2958G= (p.Glu986=) c.627G= (p.Glu209=) c.1647G= (p.Glu549=) c.2652G= (p.Glu884=) c.2832G= (p.Glu944=) | |
| 20 | g.51784469C>G | CA409005964 | SALL4 | c.2958G>C (p.Glu986Asp) c.627G>C (p.Glu209Asp) c.1647G>C (p.Glu549Asp) c.2652G>C (p.Glu884Asp) c.2832G>C (p.Glu944Asp) | |
| 20 | g.51784469C>T | CA511025839 | SALL4 | c.2958G>A (p.Glu986=) c.627G>A (p.Glu209=) c.1647G>A (p.Glu549=) c.2652G>A (p.Glu884=) c.2832G>A (p.Glu944=) | |
| 20 | g.51784470T>A | CA409005965 | SALL4 | c.2957A>T (p.Glu986Val) c.626A>T (p.Glu209Val) c.1646A>T (p.Glu549Val) c.2651A>T (p.Glu884Val) c.2831A>T (p.Glu944Val) | |
| 20 | g.51784470T>C | CA409005966 | SALL4 | c.2957A>G (p.Glu986Gly) c.626A>G (p.Glu209Gly) c.1646A>G (p.Glu549Gly) c.2651A>G (p.Glu884Gly) c.2831A>G (p.Glu944Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784470T>G | CA409005967 | SALL4 | c.2957A>C (p.Glu986Ala) c.626A>C (p.Glu209Ala) c.1646A>C (p.Glu549Ala) c.2651A>C (p.Glu884Ala) c.2831A>C (p.Glu944Ala) | |
| 20 | g.51784470T= | CA2369155291 | SALL4 | c.2957A= (p.Glu986=) c.626A= (p.Glu209=) c.1646A= (p.Glu549=) c.2651A= (p.Glu884=) c.2831A= (p.Glu944=) | |
| 20 | g.51784471C>A | CA409005968 | SALL4 | c.2956G>T (p.Glu986Ter) c.625G>T (p.Glu209Ter) c.1645G>T (p.Glu549Ter) c.2650G>T (p.Glu884Ter) c.2830G>T (p.Glu944Ter) | |
| 20 | g.51784471C= | CA2369155292 | SALL4 | c.2956G= (p.Glu986=) c.625G= (p.Glu209=) c.1645G= (p.Glu549=) c.2650G= (p.Glu884=) c.2830G= (p.Glu944=) | |
| 20 | g.51784471C>G | CA409005969 | SALL4 | c.2956G>C (p.Glu986Gln) c.625G>C (p.Glu209Gln) c.1645G>C (p.Glu549Gln) c.2650G>C (p.Glu884Gln) c.2830G>C (p.Glu944Gln) | |
| 20 | g.51784471C>T | CA9911961 | SALL4 | c.2956G>A (p.Glu986Lys) c.625G>A (p.Glu209Lys) c.1645G>A (p.Glu549Lys) c.2650G>A (p.Glu884Lys) c.2830G>A (p.Glu944Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784472A= | CA2369155293 | SALL4 | c.2955T= (p.Asn985=) c.624T= (p.Asn208=) c.1644T= (p.Asn548=) c.2649T= (p.Asn883=) c.2829T= (p.Asn943=) | |
| 20 | g.51784472A>C | CA409005970 | SALL4 | c.2955T>G (p.Asn985Lys) c.624T>G (p.Asn208Lys) c.1644T>G (p.Asn548Lys) c.2649T>G (p.Asn883Lys) c.2829T>G (p.Asn943Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784472A>G | CA511025845 | SALL4 | c.2955T>C (p.Asn985=) c.624T>C (p.Asn208=) c.1644T>C (p.Asn548=) c.2649T>C (p.Asn883=) c.2829T>C (p.Asn943=) | |
| 20 | g.51784472A>T | CA409005971 | SALL4 | c.2955T>A (p.Asn985Lys) c.624T>A (p.Asn208Lys) c.1644T>A (p.Asn548Lys) c.2649T>A (p.Asn883Lys) c.2829T>A (p.Asn943Lys) | |
| 20 | g.51784473T>A | CA409005972 | SALL4 | c.2954A>T (p.Asn985Ile) c.623A>T (p.Asn208Ile) c.1643A>T (p.Asn548Ile) c.2648A>T (p.Asn883Ile) c.2828A>T (p.Asn943Ile) | |
| 20 | g.51784473T>C | CA9911962 | SALL4 | c.2954A>G (p.Asn985Ser) c.623A>G (p.Asn208Ser) c.1643A>G (p.Asn548Ser) c.2648A>G (p.Asn883Ser) c.2828A>G (p.Asn943Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784473T>G | CA409005973 | SALL4 | c.2954A>C (p.Asn985Thr) c.623A>C (p.Asn208Thr) c.1643A>C (p.Asn548Thr) c.2648A>C (p.Asn883Thr) c.2828A>C (p.Asn943Thr) | |
| 20 | g.51784473T= | CA2369155294 | SALL4 | c.2954A= (p.Asn985=) c.623A= (p.Asn208=) c.1643A= (p.Asn548=) c.2648A= (p.Asn883=) c.2828A= (p.Asn943=) | |
| 20 | g.51784474T>A | CA409005974 | SALL4 | c.2953A>T (p.Asn985Tyr) c.622A>T (p.Asn208Tyr) c.1642A>T (p.Asn548Tyr) c.2647A>T (p.Asn883Tyr) c.2827A>T (p.Asn943Tyr) | |
| 20 | g.51784474T>C | CA409005975 | SALL4 | c.2953A>G (p.Asn985Asp) c.622A>G (p.Asn208Asp) c.1642A>G (p.Asn548Asp) c.2647A>G (p.Asn883Asp) c.2827A>G (p.Asn943Asp) | |
| 20 | g.51784474T>G | CA409005976 | SALL4 | c.2953A>C (p.Asn985His) c.622A>C (p.Asn208His) c.1642A>C (p.Asn548His) c.2647A>C (p.Asn883His) c.2827A>C (p.Asn943His) | |
| 20 | g.51784475G>A | CA511025851 | SALL4 | c.2952C>T (p.Thr984=) c.621C>T (p.Thr207=) c.1641C>T (p.Thr547=) c.2646C>T (p.Thr882=) c.2826C>T (p.Thr942=) | gnomAD v4 |
| 20 | g.51784475G>C | CA511025852 | SALL4 | c.2952C>G (p.Thr984=) c.621C>G (p.Thr207=) c.1641C>G (p.Thr547=) c.2646C>G (p.Thr882=) c.2826C>G (p.Thr942=) | |
| 20 | g.51784475G>T | CA511025853 | SALL4 | c.2952C>A (p.Thr984=) c.621C>A (p.Thr207=) c.1641C>A (p.Thr547=) c.2646C>A (p.Thr882=) c.2826C>A (p.Thr942=) | |
| 20 | g.51784476G>A | CA409005977 | SALL4 | c.2951C>T (p.Thr984Ile) c.620C>T (p.Thr207Ile) c.1640C>T (p.Thr547Ile) c.2645C>T (p.Thr882Ile) c.2825C>T (p.Thr942Ile) | |
| 20 | g.51784476G>C | CA409005978 | SALL4 | c.2951C>G (p.Thr984Ser) c.620C>G (p.Thr207Ser) c.1640C>G (p.Thr547Ser) c.2645C>G (p.Thr882Ser) c.2825C>G (p.Thr942Ser) | |
| 20 | g.51784476G>T | CA409005979 | SALL4 | c.2951C>A (p.Thr984Asn) c.620C>A (p.Thr207Asn) c.1640C>A (p.Thr547Asn) c.2645C>A (p.Thr882Asn) c.2825C>A (p.Thr942Asn) | |
| 20 | g.51784477T>A | CA409005980 | SALL4 | c.2950A>T (p.Thr984Ser) c.619A>T (p.Thr207Ser) c.1639A>T (p.Thr547Ser) c.2644A>T (p.Thr882Ser) c.2824A>T (p.Thr942Ser) | |
| 20 | g.51784477T>C | CA409005981 | SALL4 | c.2950A>G (p.Thr984Ala) c.619A>G (p.Thr207Ala) c.1639A>G (p.Thr547Ala) c.2644A>G (p.Thr882Ala) c.2824A>G (p.Thr942Ala) | |
| 20 | g.51784477T>G | CA409005982 | SALL4 | c.2950A>C (p.Thr984Pro) c.619A>C (p.Thr207Pro) c.1639A>C (p.Thr547Pro) c.2644A>C (p.Thr882Pro) c.2824A>C (p.Thr942Pro) | |
| 20 | g.51784478C>A | CA409005984 | SALL4 | c.2949G>T (p.Lys983Asn) c.618G>T (p.Lys206Asn) c.1638G>T (p.Lys546Asn) c.2643G>T (p.Lys881Asn) c.2823G>T (p.Lys941Asn) | |
| 20 | g.51784478C>G | CA409005983 | SALL4 | c.2949G>C (p.Lys983Asn) c.618G>C (p.Lys206Asn) c.1638G>C (p.Lys546Asn) c.2643G>C (p.Lys881Asn) c.2823G>C (p.Lys941Asn) | |
| 20 | g.51784478C>T | CA511025855 | SALL4 | c.2949G>A (p.Lys983=) c.618G>A (p.Lys206=) c.1638G>A (p.Lys546=) c.2643G>A (p.Lys881=) c.2823G>A (p.Lys941=) | |
| 20 | g.51784479T>A | CA409005985 | SALL4 | c.2948A>T (p.Lys983Met) c.617A>T (p.Lys206Met) c.1637A>T (p.Lys546Met) c.2642A>T (p.Lys881Met) c.2822A>T (p.Lys941Met) | |
| 20 | g.51784479T>C | CA409005986 | SALL4 | c.2948A>G (p.Lys983Arg) c.617A>G (p.Lys206Arg) c.1637A>G (p.Lys546Arg) c.2642A>G (p.Lys881Arg) c.2822A>G (p.Lys941Arg) | |
| 20 | g.51784479T>G | CA409005987 | SALL4 | c.2948A>C (p.Lys983Thr) c.617A>C (p.Lys206Thr) c.1637A>C (p.Lys546Thr) c.2642A>C (p.Lys881Thr) c.2822A>C (p.Lys941Thr) | |
| 20 | g.51784480T>A | CA409005988 | SALL4 | c.2947A>T (p.Lys983Ter) c.616A>T (p.Lys206Ter) c.1636A>T (p.Lys546Ter) c.2641A>T (p.Lys881Ter) c.2821A>T (p.Lys941Ter) | |
| 20 | g.51784480T>C | CA409005989 | SALL4 | c.2947A>G (p.Lys983Glu) c.616A>G (p.Lys206Glu) c.1636A>G (p.Lys546Glu) c.2641A>G (p.Lys881Glu) c.2821A>G (p.Lys941Glu) | |
| 20 | g.51784480T>G | CA409005990 | SALL4 | c.2947A>C (p.Lys983Gln) c.616A>C (p.Lys206Gln) c.1636A>C (p.Lys546Gln) c.2641A>C (p.Lys881Gln) c.2821A>C (p.Lys941Gln) | |
| 20 | g.51784481C>A | CA511025640 | SALL4 | c.2946G>T (p.Val982=) c.615G>T (p.Val205=) c.1635G>T (p.Val545=) c.2640G>T (p.Val880=) c.2820G>T (p.Val940=) | |
| 20 | g.51784481C= | CA2369155295 | SALL4 | c.2946G= (p.Val982=) c.615G= (p.Val205=) c.1635G= (p.Val545=) c.2640G= (p.Val880=) c.2820G= (p.Val940=) | |
| 20 | g.51784481C>G | CA511025641 | SALL4 | c.2946G>C (p.Val982=) c.615G>C (p.Val205=) c.1635G>C (p.Val545=) c.2640G>C (p.Val880=) c.2820G>C (p.Val940=) | |
| 20 | g.51784481C>T | CA511025642 | SALL4 | c.2946G>A (p.Val982=) c.615G>A (p.Val205=) c.1635G>A (p.Val545=) c.2640G>A (p.Val880=) c.2820G>A (p.Val940=) | dbSNP gnomAD v2 COSMIC |
| 20 | g.51784482A>C | CA409005991 | SALL4 | c.2945T>G (p.Val982Gly) c.614T>G (p.Val205Gly) c.1634T>G (p.Val545Gly) c.2639T>G (p.Val880Gly) c.2819T>G (p.Val940Gly) | |
| 20 | g.51784482A>G | CA409005992 | SALL4 | c.2945T>C (p.Val982Ala) c.614T>C (p.Val205Ala) c.1634T>C (p.Val545Ala) c.2639T>C (p.Val880Ala) c.2819T>C (p.Val940Ala) | |
| 20 | g.51784482A>T | CA409005993 | SALL4 | c.2945T>A (p.Val982Glu) c.614T>A (p.Val205Glu) c.1634T>A (p.Val545Glu) c.2639T>A (p.Val880Glu) c.2819T>A (p.Val940Glu) | |
| 20 | g.51784483C>A | CA409005994 | SALL4 | c.2944G>T (p.Val982Leu) c.613G>T (p.Val205Leu) c.1633G>T (p.Val545Leu) c.2638G>T (p.Val880Leu) c.2818G>T (p.Val940Leu) | gnomAD v4 |
| 20 | g.51784483C= | CA2369155296 | SALL4 | c.2944G= (p.Val982=) c.613G= (p.Val205=) c.1633G= (p.Val545=) c.2638G= (p.Val880=) c.2818G= (p.Val940=) | |
| 20 | g.51784483C>G | CA409005995 | SALL4 | c.2944G>C (p.Val982Leu) c.613G>C (p.Val205Leu) c.1633G>C (p.Val545Leu) c.2638G>C (p.Val880Leu) c.2818G>C (p.Val940Leu) | |
| 20 | g.51784483C>T | CA9911963 | SALL4 | c.2944G>A (p.Val982Met) c.613G>A (p.Val205Met) c.1633G>A (p.Val545Met) c.2638G>A (p.Val880Met) c.2818G>A (p.Val940Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.51784484G>A | CA9911964 | SALL4 | c.2943C>T (p.Ala981=) c.612C>T (p.Ala204=) c.1632C>T (p.Ala544=) c.2637C>T (p.Ala879=) c.2817C>T (p.Ala939=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784484G>C | CA511025644 | SALL4 | c.2943C>G (p.Ala981=) c.612C>G (p.Ala204=) c.1632C>G (p.Ala544=) c.2637C>G (p.Ala879=) c.2817C>G (p.Ala939=) | |
| 20 | g.51784484G= | CA2369155297 | SALL4 | c.2943C= (p.Ala981=) c.612C= (p.Ala204=) c.1632C= (p.Ala544=) c.2637C= (p.Ala879=) c.2817C= (p.Ala939=) | |
| 20 | g.51784484G>T | CA511025645 | SALL4 | c.2943C>A (p.Ala981=) c.612C>A (p.Ala204=) c.1632C>A (p.Ala544=) c.2637C>A (p.Ala879=) c.2817C>A (p.Ala939=) | |
| 20 | g.51784485G>A | CA409005997 | SALL4 | c.2942C>T (p.Ala981Val) c.611C>T (p.Ala204Val) c.1631C>T (p.Ala544Val) c.2636C>T (p.Ala879Val) c.2816C>T (p.Ala939Val) | |
| 20 | g.51784485G>C | CA409005998 | SALL4 | c.2942C>G (p.Ala981Gly) c.611C>G (p.Ala204Gly) c.1631C>G (p.Ala544Gly) c.2636C>G (p.Ala879Gly) c.2816C>G (p.Ala939Gly) | |
| 20 | g.51784485G>T | CA409005996 | SALL4 | c.2942C>A (p.Ala981Asp) c.611C>A (p.Ala204Asp) c.1631C>A (p.Ala544Asp) c.2636C>A (p.Ala879Asp) c.2816C>A (p.Ala939Asp) | COSMIC |
| 20 | g.51784486C>A | CA409005999 | SALL4 | c.2941G>T (p.Ala981Ser) c.610G>T (p.Ala204Ser) c.1630G>T (p.Ala544Ser) c.2635G>T (p.Ala879Ser) c.2815G>T (p.Ala939Ser) | |
| 20 | g.51784486C>G | CA409006000 | SALL4 | c.2941G>C (p.Ala981Pro) c.610G>C (p.Ala204Pro) c.1630G>C (p.Ala544Pro) c.2635G>C (p.Ala879Pro) c.2815G>C (p.Ala939Pro) | |
| 20 | g.51784486C>T | CA409006001 | SALL4 | c.2941G>A (p.Ala981Thr) c.610G>A (p.Ala204Thr) c.1630G>A (p.Ala544Thr) c.2635G>A (p.Ala879Thr) c.2815G>A (p.Ala939Thr) | |
| 20 | g.51784487C>A | CA511025646 | SALL4 | c.2940G>T (p.Leu980=) c.609G>T (p.Leu203=) c.1629G>T (p.Leu543=) c.2634G>T (p.Leu878=) c.2814G>T (p.Leu938=) | |
| 20 | g.51784487C>G | CA511025647 | SALL4 | c.2940G>C (p.Leu980=) c.609G>C (p.Leu203=) c.1629G>C (p.Leu543=) c.2634G>C (p.Leu878=) c.2814G>C (p.Leu938=) | |
| 20 | g.51784487C>T | CA511025648 | SALL4 | c.2940G>A (p.Leu980=) c.609G>A (p.Leu203=) c.1629G>A (p.Leu543=) c.2634G>A (p.Leu878=) c.2814G>A (p.Leu938=) | |
| 20 | g.51784488A>C | CA409006002 | SALL4 | c.2939T>G (p.Leu980Arg) c.608T>G (p.Leu203Arg) c.1628T>G (p.Leu543Arg) c.2633T>G (p.Leu878Arg) c.2813T>G (p.Leu938Arg) | |
| 20 | g.51784488A>G | CA409006003 | SALL4 | c.2939T>C (p.Leu980Pro) c.608T>C (p.Leu203Pro) c.1628T>C (p.Leu543Pro) c.2633T>C (p.Leu878Pro) c.2813T>C (p.Leu938Pro) | |
| 20 | g.51784488A>T | CA409006004 | SALL4 | c.2939T>A (p.Leu980Gln) c.608T>A (p.Leu203Gln) c.1628T>A (p.Leu543Gln) c.2633T>A (p.Leu878Gln) c.2813T>A (p.Leu938Gln) | |
| 20 | g.51784489G>A | CA511025652 | SALL4 | c.2938C>T (p.Leu980=) c.607C>T (p.Leu203=) c.1627C>T (p.Leu543=) c.2632C>T (p.Leu878=) c.2812C>T (p.Leu938=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784489G>C | CA409006006 | SALL4 | c.2938C>G (p.Leu980Val) c.607C>G (p.Leu203Val) c.1627C>G (p.Leu543Val) c.2632C>G (p.Leu878Val) c.2812C>G (p.Leu938Val) | |
| 20 | g.51784489G= | CA2369155298 | SALL4 | c.2938C= (p.Leu980=) c.607C= (p.Leu203=) c.1627C= (p.Leu543=) c.2632C= (p.Leu878=) c.2812C= (p.Leu938=) | |
| 20 | g.51784489G>T | CA409006005 | SALL4 | c.2938C>A (p.Leu980Met) c.607C>A (p.Leu203Met) c.1627C>A (p.Leu543Met) c.2632C>A (p.Leu878Met) c.2812C>A (p.Leu938Met) | |
| 20 | g.51784490A= | CA2369155299 | SALL4 | c.2937T= (p.Gly979=) c.606T= (p.Gly202=) c.1626T= (p.Gly542=) c.2631T= (p.Gly877=) c.2811T= (p.Gly937=) | |
| 20 | g.51784490A>C | CA511025653 | SALL4 | c.2937T>G (p.Gly979=) c.606T>G (p.Gly202=) c.1626T>G (p.Gly542=) c.2631T>G (p.Gly877=) c.2811T>G (p.Gly937=) | |
| 20 | g.51784490A>G | CA9911965 | SALL4 | c.2937T>C (p.Gly979=) c.606T>C (p.Gly202=) c.1626T>C (p.Gly542=) c.2631T>C (p.Gly877=) c.2811T>C (p.Gly937=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784490A>T | CA511025654 | SALL4 | c.2937T>A (p.Gly979=) c.606T>A (p.Gly202=) c.1626T>A (p.Gly542=) c.2631T>A (p.Gly877=) c.2811T>A (p.Gly937=) | |
| 20 | g.51784491C>A | CA409006007 | SALL4 | c.2936G>T (p.Gly979Val) c.605G>T (p.Gly202Val) c.1625G>T (p.Gly542Val) c.2630G>T (p.Gly877Val) c.2810G>T (p.Gly937Val) | dbSNP |
| 20 | g.51784491C= | CA2369155300 | SALL4 | c.2936G= (p.Gly979=) c.605G= (p.Gly202=) c.1625G= (p.Gly542=) c.2630G= (p.Gly877=) c.2810G= (p.Gly937=) | |
| 20 | g.51784491C>G | CA409006008 | SALL4 | c.2936G>C (p.Gly979Ala) c.605G>C (p.Gly202Ala) c.1625G>C (p.Gly542Ala) c.2630G>C (p.Gly877Ala) c.2810G>C (p.Gly937Ala) | |
| 20 | g.51784491C>T | CA409006009 | SALL4 | c.2936G>A (p.Gly979Asp) c.605G>A (p.Gly202Asp) c.1625G>A (p.Gly542Asp) c.2630G>A (p.Gly877Asp) c.2810G>A (p.Gly937Asp) | dbSNP gnomAD v4 COSMIC |
| 20 | g.51784492C>A | CA409006010 | SALL4 | c.2935G>T (p.Gly979Cys) c.604G>T (p.Gly202Cys) c.1624G>T (p.Gly542Cys) c.2629G>T (p.Gly877Cys) c.2809G>T (p.Gly937Cys) | dbSNP |
| 20 | g.51784492C= | CA2369155301 | SALL4 | c.2935G= (p.Gly979=) c.604G= (p.Gly202=) c.1624G= (p.Gly542=) c.2629G= (p.Gly877=) c.2809G= (p.Gly937=) | |
| 20 | g.51784492C>G | CA409006011 | SALL4 | c.2935G>C (p.Gly979Arg) c.604G>C (p.Gly202Arg) c.1624G>C (p.Gly542Arg) c.2629G>C (p.Gly877Arg) c.2809G>C (p.Gly937Arg) | |
| 20 | g.51784492C>T | CA9911966 | SALL4 | c.2935G>A (p.Gly979Ser) c.604G>A (p.Gly202Ser) c.1624G>A (p.Gly542Ser) c.2629G>A (p.Gly877Ser) c.2809G>A (p.Gly937Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.51784493del | CA2816661509 | SALL4 | c.2934del (p.Gly979ValfsTer4) c.603del (p.Gly202ValfsTer4) c.1623del (p.Gly542ValfsTer4) c.2628del (p.Gly877ValfsTer4) c.2808del (p.Gly937ValfsTer4) | |
| 20 | g.51784493G>A | CA9911967 | SALL4 | c.2934C>T (p.Gly978=) c.603C>T (p.Gly201=) c.1623C>T (p.Gly541=) c.2628C>T (p.Gly876=) c.2808C>T (p.Gly936=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784493G>C | CA511025657 | SALL4 | c.2934C>G (p.Gly978=) c.603C>G (p.Gly201=) c.1623C>G (p.Gly541=) c.2628C>G (p.Gly876=) c.2808C>G (p.Gly936=) | |
| 20 | g.51784493G= | CA2369155302 | SALL4 | c.2934C= (p.Gly978=) c.603C= (p.Gly201=) c.1623C= (p.Gly541=) c.2628C= (p.Gly876=) c.2808C= (p.Gly936=) | |
| 20 | g.51784493G>T | CA9911968 | SALL4 | c.2934C>A (p.Gly978=) c.603C>A (p.Gly201=) c.1623C>A (p.Gly541=) c.2628C>A (p.Gly876=) c.2808C>A (p.Gly936=) | dbSNP ExAC gnomAD v2 |
| 20 | g.51784494C>A | CA409006012 | SALL4 | c.2933G>T (p.Gly978Val) c.602G>T (p.Gly201Val) c.1622G>T (p.Gly541Val) c.2627G>T (p.Gly876Val) c.2807G>T (p.Gly936Val) | |
| 20 | g.51784494C>G | CA409006014 | SALL4 | c.2933G>C (p.Gly978Ala) c.602G>C (p.Gly201Ala) c.1622G>C (p.Gly541Ala) c.2627G>C (p.Gly876Ala) c.2807G>C (p.Gly936Ala) | |
| 20 | g.51784494C>T | CA409006013 | SALL4 | c.2933G>A (p.Gly978Asp) c.602G>A (p.Gly201Asp) c.1622G>A (p.Gly541Asp) c.2627G>A (p.Gly876Asp) c.2807G>A (p.Gly936Asp) | |
| 20 | g.51784495C>A | CA409006015 | SALL4 | c.2932G>T (p.Gly978Cys) c.601G>T (p.Gly201Cys) c.1621G>T (p.Gly541Cys) c.2626G>T (p.Gly876Cys) c.2806G>T (p.Gly936Cys) | |
| 20 | g.51784495C= | CA2369155303 | SALL4 | c.2932G= (p.Gly978=) c.601G= (p.Gly201=) c.1621G= (p.Gly541=) c.2626G= (p.Gly876=) c.2806G= (p.Gly936=) | |
| 20 | g.51784495C>G | CA409006016 | SALL4 | c.2932G>C (p.Gly978Arg) c.601G>C (p.Gly201Arg) c.1621G>C (p.Gly541Arg) c.2626G>C (p.Gly876Arg) c.2806G>C (p.Gly936Arg) | |
| 20 | g.51784495C>T | CA10652629 | SALL4 | c.2932G>A (p.Gly978Ser) c.601G>A (p.Gly201Ser) c.1621G>A (p.Gly541Ser) c.2626G>A (p.Gly876Ser) c.2806G>A (p.Gly936Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784496A= | CA2369155304 | SALL4 | c.2931T= (p.Asn977=) c.600T= (p.Asn200=) c.1620T= (p.Asn540=) c.2625T= (p.Asn875=) c.2805T= (p.Asn935=) | |
| 20 | g.51784496A>C | CA409006017 | SALL4 | c.2931T>G (p.Asn977Lys) c.600T>G (p.Asn200Lys) c.1620T>G (p.Asn540Lys) c.2625T>G (p.Asn875Lys) c.2805T>G (p.Asn935Lys) | |
| 20 | g.51784496A>G | CA511025659 | SALL4 | c.2931T>C (p.Asn977=) c.600T>C (p.Asn200=) c.1620T>C (p.Asn540=) c.2625T>C (p.Asn875=) c.2805T>C (p.Asn935=) | dbSNP |
| 20 | g.51784496A>T | CA409006018 | SALL4 | c.2931T>A (p.Asn977Lys) c.600T>A (p.Asn200Lys) c.1620T>A (p.Asn540Lys) c.2625T>A (p.Asn875Lys) c.2805T>A (p.Asn935Lys) | |
| 20 | g.51784497T>A | CA409006019 | SALL4 | c.2930A>T (p.Asn977Ile) c.599A>T (p.Asn200Ile) c.1619A>T (p.Asn540Ile) c.2624A>T (p.Asn875Ile) c.2804A>T (p.Asn935Ile) | gnomAD v4 |
| 20 | g.51784497T>C | CA9911969 | SALL4 | c.2930A>G (p.Asn977Ser) c.599A>G (p.Asn200Ser) c.1619A>G (p.Asn540Ser) c.2624A>G (p.Asn875Ser) c.2804A>G (p.Asn935Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784497T>G | CA409006020 | SALL4 | c.2930A>C (p.Asn977Thr) c.599A>C (p.Asn200Thr) c.1619A>C (p.Asn540Thr) c.2624A>C (p.Asn875Thr) c.2804A>C (p.Asn935Thr) | |
| 20 | g.51784497T= | CA2369155305 | SALL4 | c.2930A= (p.Asn977=) c.599A= (p.Asn200=) c.1619A= (p.Asn540=) c.2624A= (p.Asn875=) c.2804A= (p.Asn935=) | |
| 20 | g.51784498T>A | CA409006021 | SALL4 | c.2929A>T (p.Asn977Tyr) c.598A>T (p.Asn200Tyr) c.1618A>T (p.Asn540Tyr) c.2623A>T (p.Asn875Tyr) c.2803A>T (p.Asn935Tyr) | |
| 20 | g.51784498T>C | CA409006022 | SALL4 | c.2929A>G (p.Asn977Asp) c.598A>G (p.Asn200Asp) c.1618A>G (p.Asn540Asp) c.2623A>G (p.Asn875Asp) c.2803A>G (p.Asn935Asp) | gnomAD v4 |
| 20 | g.51784498T>G | CA409006023 | SALL4 | c.2929A>C (p.Asn977His) c.598A>C (p.Asn200His) c.1618A>C (p.Asn540His) c.2623A>C (p.Asn875His) c.2803A>C (p.Asn935His) | gnomAD v4 |
| 20 | g.51784499G>A | CA511025665 | SALL4 | c.2928C>T (p.Leu976=) c.597C>T (p.Leu199=) c.1617C>T (p.Leu539=) c.2622C>T (p.Leu874=) c.2802C>T (p.Leu934=) | |
| 20 | g.51784499G>C | CA511025664 | SALL4 | c.2928C>G (p.Leu976=) c.597C>G (p.Leu199=) c.1617C>G (p.Leu539=) c.2622C>G (p.Leu874=) c.2802C>G (p.Leu934=) | |
| 20 | g.51784499G>T | CA511025662 | SALL4 | c.2928C>A (p.Leu976=) c.597C>A (p.Leu199=) c.1617C>A (p.Leu539=) c.2622C>A (p.Leu874=) c.2802C>A (p.Leu934=) | |
| 20 | g.51784500A>C | CA409006024 | SALL4 | c.2927T>G (p.Leu976Arg) c.596T>G (p.Leu199Arg) c.1616T>G (p.Leu539Arg) c.2621T>G (p.Leu874Arg) c.2801T>G (p.Leu934Arg) | |
| 20 | g.51784500A>G | CA409006025 | SALL4 | c.2927T>C (p.Leu976Pro) c.596T>C (p.Leu199Pro) c.1616T>C (p.Leu539Pro) c.2621T>C (p.Leu874Pro) c.2801T>C (p.Leu934Pro) | |
| 20 | g.51784500A>T | CA409006026 | SALL4 | c.2927T>A (p.Leu976His) c.596T>A (p.Leu199His) c.1616T>A (p.Leu539His) c.2621T>A (p.Leu874His) c.2801T>A (p.Leu934His) | |
| 20 | g.51784501G>A | CA409006027 | SALL4 | c.2926C>T (p.Leu976Phe) c.595C>T (p.Leu199Phe) c.1615C>T (p.Leu539Phe) c.2620C>T (p.Leu874Phe) c.2800C>T (p.Leu934Phe) | |
| 20 | g.51784501G>C | CA409006028 | SALL4 | c.2926C>G (p.Leu976Val) c.595C>G (p.Leu199Val) c.1615C>G (p.Leu539Val) c.2620C>G (p.Leu874Val) c.2800C>G (p.Leu934Val) | |
| 20 | g.51784501G>T | CA409006029 | SALL4 | c.2926C>A (p.Leu976Ile) c.595C>A (p.Leu199Ile) c.1615C>A (p.Leu539Ile) c.2620C>A (p.Leu874Ile) c.2800C>A (p.Leu934Ile) | |
| 20 | g.51784502C>A | CA409006030 | SALL4 | c.2925G>T (p.Met975Ile) c.594G>T (p.Met198Ile) c.1614G>T (p.Met538Ile) c.2619G>T (p.Met873Ile) c.2799G>T (p.Met933Ile) | |
| 20 | g.51784502C>G | CA409006031 | SALL4 | c.2925G>C (p.Met975Ile) c.594G>C (p.Met198Ile) c.1614G>C (p.Met538Ile) c.2619G>C (p.Met873Ile) c.2799G>C (p.Met933Ile) | |
| 20 | g.51784502C>T | CA409006032 | SALL4 | c.2925G>A (p.Met975Ile) c.594G>A (p.Met198Ile) c.1614G>A (p.Met538Ile) c.2619G>A (p.Met873Ile) c.2799G>A (p.Met933Ile) | |
| 20 | g.51784503A>C | CA409006035 | SALL4 | c.2924T>G (p.Met975Arg) c.593T>G (p.Met198Arg) c.1613T>G (p.Met538Arg) c.2618T>G (p.Met873Arg) c.2798T>G (p.Met933Arg) | |
| 20 | g.51784503A>G | CA409006033 | SALL4 | c.2924T>C (p.Met975Thr) c.593T>C (p.Met198Thr) c.1613T>C (p.Met538Thr) c.2618T>C (p.Met873Thr) c.2798T>C (p.Met933Thr) | gnomAD v4 |
| 20 | g.51784503A>T | CA409006034 | SALL4 | c.2924T>A (p.Met975Lys) c.593T>A (p.Met198Lys) c.1613T>A (p.Met538Lys) c.2618T>A (p.Met873Lys) c.2798T>A (p.Met933Lys) | |
| 20 | g.51784504T>A | CA409006036 | SALL4 | c.2923A>T (p.Met975Leu) c.592A>T (p.Met198Leu) c.1612A>T (p.Met538Leu) c.2617A>T (p.Met873Leu) c.2797A>T (p.Met933Leu) | |
| 20 | g.51784504T>C | CA409006037 | SALL4 | c.2923A>G (p.Met975Val) c.592A>G (p.Met198Val) c.1612A>G (p.Met538Val) c.2617A>G (p.Met873Val) c.2797A>G (p.Met933Val) | |
| 20 | g.51784504T>G | CA409006038 | SALL4 | c.2923A>C (p.Met975Leu) c.592A>C (p.Met198Leu) c.1612A>C (p.Met538Leu) c.2617A>C (p.Met873Leu) c.2797A>C (p.Met933Leu) | |
| 20 | g.51784505G>A | CA511025670 | SALL4 | c.2922C>T (p.Ser974=) c.591C>T (p.Ser197=) c.1611C>T (p.Ser537=) c.2616C>T (p.Ser872=) c.2796C>T (p.Ser932=) | gnomAD v4 |
| 20 | g.51784505G>C | CA409006039 | SALL4 | c.2922C>G (p.Ser974Arg) c.591C>G (p.Ser197Arg) c.1611C>G (p.Ser537Arg) c.2616C>G (p.Ser872Arg) c.2796C>G (p.Ser932Arg) | |
| 20 | g.51784505G>T | CA409006040 | SALL4 | c.2922C>A (p.Ser974Arg) c.591C>A (p.Ser197Arg) c.1611C>A (p.Ser537Arg) c.2616C>A (p.Ser872Arg) c.2796C>A (p.Ser932Arg) |