| 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.51784524A= | CA2369155313 | SALL4 | c.2903T= (p.Val968=) c.572T= (p.Val191=) c.1592T= (p.Val531=) c.2597T= (p.Val866=) c.2777T= (p.Val926=) | |
| 20 | g.51784524A>C | CA9911974 | SALL4 | c.2903T>G (p.Val968Gly) c.572T>G (p.Val191Gly) c.1592T>G (p.Val531Gly) c.2597T>G (p.Val866Gly) c.2777T>G (p.Val926Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784524A>G | CA409006086 | SALL4 | c.2903T>C (p.Val968Ala) c.572T>C (p.Val191Ala) c.1592T>C (p.Val531Ala) c.2597T>C (p.Val866Ala) c.2777T>C (p.Val926Ala) | dbSNP |
| 20 | g.51784524A>T | CA409006087 | SALL4 | c.2903T>A (p.Val968Glu) c.572T>A (p.Val191Glu) c.1592T>A (p.Val531Glu) c.2597T>A (p.Val866Glu) c.2777T>A (p.Val926Glu) | |
| 20 | g.51784525C>A | CA9911975 | SALL4 | c.2902G>T (p.Val968Leu) c.571G>T (p.Val191Leu) c.1591G>T (p.Val531Leu) c.2596G>T (p.Val866Leu) c.2776G>T (p.Val926Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784525C= | CA2369155314 | SALL4 | c.2902G= (p.Val968=) c.571G= (p.Val191=) c.1591G= (p.Val531=) c.2596G= (p.Val866=) c.2776G= (p.Val926=) | |
| 20 | g.51784525C>G | CA409006088 | SALL4 | c.2902G>C (p.Val968Leu) c.571G>C (p.Val191Leu) c.1591G>C (p.Val531Leu) c.2596G>C (p.Val866Leu) c.2776G>C (p.Val926Leu) | |
| 20 | g.51784525C>T | CA409006089 | SALL4 | c.2902G>A (p.Val968Met) c.571G>A (p.Val191Met) c.1591G>A (p.Val531Met) c.2596G>A (p.Val866Met) c.2776G>A (p.Val926Met) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784526A= | CA2369155315 | SALL4 | c.2901T= (p.Val967=) c.570T= (p.Val190=) c.1590T= (p.Val530=) c.2595T= (p.Val865=) c.2775T= (p.Val925=) | |
| 20 | g.51784526A>C | CA511025700 | SALL4 | c.2901T>G (p.Val967=) c.570T>G (p.Val190=) c.1590T>G (p.Val530=) c.2595T>G (p.Val865=) c.2775T>G (p.Val925=) | |
| 20 | g.51784526A>G | CA9911976 | SALL4 | c.2901T>C (p.Val967=) c.570T>C (p.Val190=) c.1590T>C (p.Val530=) c.2595T>C (p.Val865=) c.2775T>C (p.Val925=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.51784526A>T | CA511025701 | SALL4 | c.2901T>A (p.Val967=) c.570T>A (p.Val190=) c.1590T>A (p.Val530=) c.2595T>A (p.Val865=) c.2775T>A (p.Val925=) | |
| 20 | g.51784527A= | CA2369155316 | SALL4 | c.2900T= (p.Val967=) c.569T= (p.Val190=) c.1589T= (p.Val530=) c.2594T= (p.Val865=) c.2774T= (p.Val925=) | |
| 20 | g.51784527A>C | CA409006091 | SALL4 | c.2900T>G (p.Val967Gly) c.569T>G (p.Val190Gly) c.1589T>G (p.Val530Gly) c.2594T>G (p.Val865Gly) c.2774T>G (p.Val925Gly) | |
| 20 | g.51784527A>G | CA9911977 | SALL4 | c.2900T>C (p.Val967Ala) c.569T>C (p.Val190Ala) c.1589T>C (p.Val530Ala) c.2594T>C (p.Val865Ala) c.2774T>C (p.Val925Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784527A>T | CA409006090 | SALL4 | c.2900T>A (p.Val967Asp) c.569T>A (p.Val190Asp) c.1589T>A (p.Val530Asp) c.2594T>A (p.Val865Asp) c.2774T>A (p.Val925Asp) | |
| 20 | g.51784528C>A | CA409006092 | SALL4 | c.2899G>T (p.Val967Phe) c.568G>T (p.Val190Phe) c.1588G>T (p.Val530Phe) c.2593G>T (p.Val865Phe) c.2773G>T (p.Val925Phe) | |
| 20 | g.51784528C= | CA2369155317 | SALL4 | c.2899G= (p.Val967=) c.568G= (p.Val190=) c.1588G= (p.Val530=) c.2593G= (p.Val865=) c.2773G= (p.Val925=) | |
| 20 | g.51784528C>G | CA409006093 | SALL4 | c.2899G>C (p.Val967Leu) c.568G>C (p.Val190Leu) c.1588G>C (p.Val530Leu) c.2593G>C (p.Val865Leu) c.2773G>C (p.Val925Leu) | |
| 20 | g.51784528C>T | CA9911978 | SALL4 | c.2899G>A (p.Val967Ile) c.568G>A (p.Val190Ile) c.1588G>A (p.Val530Ile) c.2593G>A (p.Val865Ile) c.2773G>A (p.Val925Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784529A>C | CA511025705 | SALL4 | c.2898T>G (p.Pro966=) c.567T>G (p.Pro189=) c.1587T>G (p.Pro529=) c.2592T>G (p.Pro864=) c.2772T>G (p.Pro924=) | gnomAD v4 |
| 20 | g.51784529A>G | CA511025706 | SALL4 | c.2898T>C (p.Pro966=) c.567T>C (p.Pro189=) c.1587T>C (p.Pro529=) c.2592T>C (p.Pro864=) c.2772T>C (p.Pro924=) | |
| 20 | g.51784529A>T | CA511025707 | SALL4 | c.2898T>A (p.Pro966=) c.567T>A (p.Pro189=) c.1587T>A (p.Pro529=) c.2592T>A (p.Pro864=) c.2772T>A (p.Pro924=) | |
| 20 | g.51784530G>A | CA409006094 | SALL4 | c.2897C>T (p.Pro966Leu) c.566C>T (p.Pro189Leu) c.1586C>T (p.Pro529Leu) c.2591C>T (p.Pro864Leu) c.2771C>T (p.Pro924Leu) | |
| 20 | g.51784530G>C | CA409006095 | SALL4 | c.2897C>G (p.Pro966Arg) c.566C>G (p.Pro189Arg) c.1586C>G (p.Pro529Arg) c.2591C>G (p.Pro864Arg) c.2771C>G (p.Pro924Arg) | gnomAD v4 |
| 20 | g.51784530G>T | CA409006096 | SALL4 | c.2897C>A (p.Pro966His) c.566C>A (p.Pro189His) c.1586C>A (p.Pro529His) c.2591C>A (p.Pro864His) c.2771C>A (p.Pro924His) | |
| 20 | g.51784532del | CA2653358751 | SALL4 | c.2897del (p.Pro966LeufsTer17) c.566del (p.Pro189LeufsTer17) c.1586del (p.Pro529LeufsTer17) c.2591del (p.Pro864LeufsTer17) c.2771del (p.Pro924LeufsTer17) | gnomAD v4 |
| 20 | g.51784531G>A | CA315366144 | SALL4 | c.2896C>T (p.Pro966Ser) c.565C>T (p.Pro189Ser) c.1585C>T (p.Pro529Ser) c.2590C>T (p.Pro864Ser) c.2770C>T (p.Pro924Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784531G>C | CA409006097 | SALL4 | c.2896C>G (p.Pro966Ala) c.565C>G (p.Pro189Ala) c.1585C>G (p.Pro529Ala) c.2590C>G (p.Pro864Ala) c.2770C>G (p.Pro924Ala) | |
| 20 | g.51784531G= | CA2369155318 | SALL4 | c.2896C= (p.Pro966=) c.565C= (p.Pro189=) c.1585C= (p.Pro529=) c.2590C= (p.Pro864=) c.2770C= (p.Pro924=) | |
| 20 | g.51784531G>T | CA409006098 | SALL4 | c.2896C>A (p.Pro966Thr) c.565C>A (p.Pro189Thr) c.1585C>A (p.Pro529Thr) c.2590C>A (p.Pro864Thr) c.2770C>A (p.Pro924Thr) | |
| 20 | g.51784532G>A | CA511025712 | SALL4 | c.2895C>T (p.Asp965=) c.564C>T (p.Asp188=) c.1584C>T (p.Asp528=) c.2589C>T (p.Asp863=) c.2769C>T (p.Asp923=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784532G>C | CA409006099 | SALL4 | c.2895C>G (p.Asp965Glu) c.564C>G (p.Asp188Glu) c.1584C>G (p.Asp528Glu) c.2589C>G (p.Asp863Glu) c.2769C>G (p.Asp923Glu) | dbSNP gnomAD v4 |
| 20 | g.51784532G= | CA2369155319 | SALL4 | c.2895C= (p.Asp965=) c.564C= (p.Asp188=) c.1584C= (p.Asp528=) c.2589C= (p.Asp863=) c.2769C= (p.Asp923=) | |
| 20 | g.51784532G>T | CA409006100 | SALL4 | c.2895C>A (p.Asp965Glu) c.564C>A (p.Asp188Glu) c.1584C>A (p.Asp528Glu) c.2589C>A (p.Asp863Glu) c.2769C>A (p.Asp923Glu) | |
| 20 | g.51784533T>A | CA409006103 | SALL4 | c.2894A>T (p.Asp965Val) c.563A>T (p.Asp188Val) c.1583A>T (p.Asp528Val) c.2588A>T (p.Asp863Val) c.2768A>T (p.Asp923Val) | |
| 20 | g.51784533T>C | CA409006102 | SALL4 | c.2894A>G (p.Asp965Gly) c.563A>G (p.Asp188Gly) c.1583A>G (p.Asp528Gly) c.2588A>G (p.Asp863Gly) c.2768A>G (p.Asp923Gly) | |
| 20 | g.51784533T>G | CA409006101 | SALL4 | c.2894A>C (p.Asp965Ala) c.563A>C (p.Asp188Ala) c.1583A>C (p.Asp528Ala) c.2588A>C (p.Asp863Ala) c.2768A>C (p.Asp923Ala) | |
| 20 | g.51784534C>A | CA409006105 | SALL4 | c.2893G>T (p.Asp965Tyr) c.562G>T (p.Asp188Tyr) c.1582G>T (p.Asp528Tyr) c.2587G>T (p.Asp863Tyr) c.2767G>T (p.Asp923Tyr) | gnomAD v4 |
| 20 | g.51784534C= | CA2369155320 | SALL4 | c.2893G= (p.Asp965=) c.562G= (p.Asp188=) c.1582G= (p.Asp528=) c.2587G= (p.Asp863=) c.2767G= (p.Asp923=) | |
| 20 | g.51784534C>G | CA409006104 | SALL4 | c.2893G>C (p.Asp965His) c.562G>C (p.Asp188His) c.1582G>C (p.Asp528His) c.2587G>C (p.Asp863His) c.2767G>C (p.Asp923His) | |
| 20 | g.51784534C>T | CA9911979 | SALL4 | c.2893G>A (p.Asp965Asn) c.562G>A (p.Asp188Asn) c.1582G>A (p.Asp528Asn) c.2587G>A (p.Asp863Asn) c.2767G>A (p.Asp923Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784535C>A | CA511025720 | SALL4 | c.2892G>T (p.Val964=) c.561G>T (p.Val187=) c.1581G>T (p.Val527=) c.2586G>T (p.Val862=) c.2766G>T (p.Val922=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784535C= | CA2369155321 | SALL4 | c.2892G= (p.Val964=) c.561G= (p.Val187=) c.1581G= (p.Val527=) c.2586G= (p.Val862=) c.2766G= (p.Val922=) | |
| 20 | g.51784535C>G | CA511025721 | SALL4 | c.2892G>C (p.Val964=) c.561G>C (p.Val187=) c.1581G>C (p.Val527=) c.2586G>C (p.Val862=) c.2766G>C (p.Val922=) | |
| 20 | g.51784535C>T | CA511025722 | SALL4 | c.2892G>A (p.Val964=) c.561G>A (p.Val187=) c.1581G>A (p.Val527=) c.2586G>A (p.Val862=) c.2766G>A (p.Val922=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784536A= | CA2369155322 | SALL4 | c.2891T= (p.Val964=) c.560T= (p.Val187=) c.1580T= (p.Val527=) c.2585T= (p.Val862=) c.2765T= (p.Val922=) | |
| 20 | g.51784536A>C | CA409006106 | SALL4 | c.2891T>G (p.Val964Gly) c.560T>G (p.Val187Gly) c.1580T>G (p.Val527Gly) c.2585T>G (p.Val862Gly) c.2765T>G (p.Val922Gly) | |
| 20 | g.51784536A>G | CA409006107 | SALL4 | c.2891T>C (p.Val964Ala) c.560T>C (p.Val187Ala) c.1580T>C (p.Val527Ala) c.2585T>C (p.Val862Ala) c.2765T>C (p.Val922Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784536A>T | CA409006108 | SALL4 | c.2891T>A (p.Val964Glu) c.560T>A (p.Val187Glu) c.1580T>A (p.Val527Glu) c.2585T>A (p.Val862Glu) c.2765T>A (p.Val922Glu) | |
| 20 | g.51784537C>A | CA409006109 | SALL4 | c.2890G>T (p.Val964Leu) c.559G>T (p.Val187Leu) c.1579G>T (p.Val527Leu) c.2584G>T (p.Val862Leu) c.2764G>T (p.Val922Leu) | gnomAD v4 |
| 20 | g.51784537C>G | CA409006110 | SALL4 | c.2890G>C (p.Val964Leu) c.559G>C (p.Val187Leu) c.1579G>C (p.Val527Leu) c.2584G>C (p.Val862Leu) c.2764G>C (p.Val922Leu) | |
| 20 | g.51784537C>T | CA409006111 | SALL4 | c.2890G>A (p.Val964Met) c.559G>A (p.Val187Met) c.1579G>A (p.Val527Met) c.2584G>A (p.Val862Met) c.2764G>A (p.Val922Met) | gnomAD v4 |
| 20 | g.51784538A>C | CA409006112 | SALL4 | c.2889T>G (p.Asn963Lys) c.558T>G (p.Asn186Lys) c.1578T>G (p.Asn526Lys) c.2583T>G (p.Asn861Lys) c.2763T>G (p.Asn921Lys) | |
| 20 | g.51784538A>G | CA511025727 | SALL4 | c.2889T>C (p.Asn963=) c.558T>C (p.Asn186=) c.1578T>C (p.Asn526=) c.2583T>C (p.Asn861=) c.2763T>C (p.Asn921=) | gnomAD v4 |
| 20 | g.51784538A>T | CA409006113 | SALL4 | c.2889T>A (p.Asn963Lys) c.558T>A (p.Asn186Lys) c.1578T>A (p.Asn526Lys) c.2583T>A (p.Asn861Lys) c.2763T>A (p.Asn921Lys) | |
| 20 | g.51784539T>A | CA409006114 | SALL4 | c.2888A>T (p.Asn963Ile) c.557A>T (p.Asn186Ile) c.1577A>T (p.Asn526Ile) c.2582A>T (p.Asn861Ile) c.2762A>T (p.Asn921Ile) | |
| 20 | g.51784539T>C | CA409006115 | SALL4 | c.2888A>G (p.Asn963Ser) c.557A>G (p.Asn186Ser) c.1577A>G (p.Asn526Ser) c.2582A>G (p.Asn861Ser) c.2762A>G (p.Asn921Ser) | |
| 20 | g.51784539T>G | CA409006116 | SALL4 | c.2888A>C (p.Asn963Thr) c.557A>C (p.Asn186Thr) c.1577A>C (p.Asn526Thr) c.2582A>C (p.Asn861Thr) c.2762A>C (p.Asn921Thr) | |
| 20 | g.51784539_51784545dup | CA2577428510 | SALL4 | c.2882_2888dup (p.Val964SerfsTer25) c.551_557dup (p.Val187SerfsTer25) c.1571_1577dup (p.Val527SerfsTer25) c.2576_2582dup (p.Val862SerfsTer25) c.2756_2762dup (p.Val922SerfsTer25) | |
| 20 | g.51784540T>A | CA409006119 | SALL4 | c.2887A>T (p.Asn963Tyr) c.556A>T (p.Asn186Tyr) c.1576A>T (p.Asn526Tyr) c.2581A>T (p.Asn861Tyr) c.2761A>T (p.Asn921Tyr) | |
| 20 | g.51784540T>C | CA409006117 | SALL4 | c.2887A>G (p.Asn963Asp) c.556A>G (p.Asn186Asp) c.1576A>G (p.Asn526Asp) c.2581A>G (p.Asn861Asp) c.2761A>G (p.Asn921Asp) | |
| 20 | g.51784540T>G | CA409006118 | SALL4 | c.2887A>C (p.Asn963His) c.556A>C (p.Asn186His) c.1576A>C (p.Asn526His) c.2581A>C (p.Asn861His) c.2761A>C (p.Asn921His) | |
| 20 | g.51784541C>A | CA511025728 | SALL4 | c.2886G>T (p.Val962=) c.555G>T (p.Val185=) c.1575G>T (p.Val525=) c.2580G>T (p.Val860=) c.2760G>T (p.Val920=) | |
| 20 | g.51784541C= | CA2369155323 | SALL4 | c.2886G= (p.Val962=) c.555G= (p.Val185=) c.1575G= (p.Val525=) c.2580G= (p.Val860=) c.2760G= (p.Val920=) | |
| 20 | g.51784541C>G | CA511025731 | SALL4 | c.2886G>C (p.Val962=) c.555G>C (p.Val185=) c.1575G>C (p.Val525=) c.2580G>C (p.Val860=) c.2760G>C (p.Val920=) | |
| 20 | g.51784541C>T | CA315366176 | SALL4 | c.2886G>A (p.Val962=) c.555G>A (p.Val185=) c.1575G>A (p.Val525=) c.2580G>A (p.Val860=) c.2760G>A (p.Val920=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784542A>C | CA409006120 | SALL4 | c.2885T>G (p.Val962Gly) c.554T>G (p.Val185Gly) c.1574T>G (p.Val525Gly) c.2579T>G (p.Val860Gly) c.2759T>G (p.Val920Gly) | |
| 20 | g.51784542A>G | CA409006121 | SALL4 | c.2885T>C (p.Val962Ala) c.554T>C (p.Val185Ala) c.1574T>C (p.Val525Ala) c.2579T>C (p.Val860Ala) c.2759T>C (p.Val920Ala) | |
| 20 | g.51784542A>T | CA409006122 | SALL4 | c.2885T>A (p.Val962Glu) c.554T>A (p.Val185Glu) c.1574T>A (p.Val525Glu) c.2579T>A (p.Val860Glu) c.2759T>A (p.Val920Glu) | |
| 20 | g.51784543C>A | CA409006123 | SALL4 | c.2884G>T (p.Val962Leu) c.553G>T (p.Val185Leu) c.1573G>T (p.Val525Leu) c.2578G>T (p.Val860Leu) c.2758G>T (p.Val920Leu) | |
| 20 | g.51784543C>G | CA409006124 | SALL4 | c.2884G>C (p.Val962Leu) c.553G>C (p.Val185Leu) c.1573G>C (p.Val525Leu) c.2578G>C (p.Val860Leu) c.2758G>C (p.Val920Leu) | |
| 20 | g.51784543C>T | CA409006125 | SALL4 | c.2884G>A (p.Val962Met) c.553G>A (p.Val185Met) c.1573G>A (p.Val525Met) c.2578G>A (p.Val860Met) c.2758G>A (p.Val920Met) | |
| 20 | g.51784544T>A | CA511025735 | SALL4 | c.2883A>T (p.Ser961=) c.552A>T (p.Ser184=) c.1572A>T (p.Ser524=) c.2577A>T (p.Ser859=) c.2757A>T (p.Ser919=) | |
| 20 | g.51784544T>C | CA511025738 | SALL4 | c.2883A>G (p.Ser961=) c.552A>G (p.Ser184=) c.1572A>G (p.Ser524=) c.2577A>G (p.Ser859=) c.2757A>G (p.Ser919=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784544T>G | CA511025740 | SALL4 | c.2883A>C (p.Ser961=) c.552A>C (p.Ser184=) c.1572A>C (p.Ser524=) c.2577A>C (p.Ser859=) c.2757A>C (p.Ser919=) | |
| 20 | g.51784544T= | CA2369155324 | SALL4 | c.2883A= (p.Ser961=) c.552A= (p.Ser184=) c.1572A= (p.Ser524=) c.2577A= (p.Ser859=) c.2757A= (p.Ser919=) | |
| 20 | g.51784545G>A | CA409006126 | SALL4 | c.2882C>T (p.Ser961Leu) c.551C>T (p.Ser184Leu) c.1571C>T (p.Ser524Leu) c.2576C>T (p.Ser859Leu) c.2756C>T (p.Ser919Leu) | |
| 20 | g.51784545G>C | CA409006127 | SALL4 | c.2882C>G (p.Ser961Ter) c.551C>G (p.Ser184Ter) c.1571C>G (p.Ser524Ter) c.2576C>G (p.Ser859Ter) c.2756C>G (p.Ser919Ter) | |
| 20 | g.51784545G>T | CA409006128 | SALL4 | c.2882C>A (p.Ser961Ter) c.551C>A (p.Ser184Ter) c.1571C>A (p.Ser524Ter) c.2576C>A (p.Ser859Ter) c.2756C>A (p.Ser919Ter) | gnomAD v4 |
| 20 | g.51784546A>C | CA409006129 | SALL4 | c.2881T>G (p.Ser961Ala) c.550T>G (p.Ser184Ala) c.1570T>G (p.Ser524Ala) c.2575T>G (p.Ser859Ala) c.2755T>G (p.Ser919Ala) | |
| 20 | g.51784546A>G | CA409006130 | SALL4 | c.2881T>C (p.Ser961Pro) c.550T>C (p.Ser184Pro) c.1570T>C (p.Ser524Pro) c.2575T>C (p.Ser859Pro) c.2755T>C (p.Ser919Pro) | |
| 20 | g.51784546A>T | CA409006131 | SALL4 | c.2881T>A (p.Ser961Thr) c.550T>A (p.Ser184Thr) c.1570T>A (p.Ser524Thr) c.2575T>A (p.Ser859Thr) c.2755T>A (p.Ser919Thr) | |
| 20 | g.51784547A>C | CA511025742 | SALL4 | c.2880T>G (p.Pro960=) c.549T>G (p.Pro183=) c.1569T>G (p.Pro523=) c.2574T>G (p.Pro858=) c.2754T>G (p.Pro918=) | |
| 20 | g.51784547A>G | CA511025743 | SALL4 | c.2880T>C (p.Pro960=) c.549T>C (p.Pro183=) c.1569T>C (p.Pro523=) c.2574T>C (p.Pro858=) c.2754T>C (p.Pro918=) | |
| 20 | g.51784547A>T | CA511025745 | SALL4 | c.2880T>A (p.Pro960=) c.549T>A (p.Pro183=) c.1569T>A (p.Pro523=) c.2574T>A (p.Pro858=) c.2754T>A (p.Pro918=) | |
| 20 | g.51784548G>A | CA409006133 | SALL4 | c.2879C>T (p.Pro960Leu) c.548C>T (p.Pro183Leu) c.1568C>T (p.Pro523Leu) c.2573C>T (p.Pro858Leu) c.2753C>T (p.Pro918Leu) | |
| 20 | g.51784548G>C | CA409006134 | SALL4 | c.2879C>G (p.Pro960Arg) c.548C>G (p.Pro183Arg) c.1568C>G (p.Pro523Arg) c.2573C>G (p.Pro858Arg) c.2753C>G (p.Pro918Arg) | |
| 20 | g.51784548G>T | CA409006132 | SALL4 | c.2879C>A (p.Pro960His) c.548C>A (p.Pro183His) c.1568C>A (p.Pro523His) c.2573C>A (p.Pro858His) c.2753C>A (p.Pro918His) | |
| 20 | g.51784549G>A | CA409006135 | SALL4 | c.2878C>T (p.Pro960Ser) c.547C>T (p.Pro183Ser) c.1567C>T (p.Pro523Ser) c.2572C>T (p.Pro858Ser) c.2752C>T (p.Pro918Ser) | gnomAD v4 |
| 20 | g.51784549G>C | CA409006137 | SALL4 | c.2878C>G (p.Pro960Ala) c.547C>G (p.Pro183Ala) c.1567C>G (p.Pro523Ala) c.2572C>G (p.Pro858Ala) c.2752C>G (p.Pro918Ala) | |
| 20 | g.51784549G>T | CA409006136 | SALL4 | c.2878C>A (p.Pro960Thr) c.547C>A (p.Pro183Thr) c.1567C>A (p.Pro523Thr) c.2572C>A (p.Pro858Thr) c.2752C>A (p.Pro918Thr) | |
| 20 | g.51784550G>A | CA511025750 | SALL4 | c.2877C>T (p.Ala959=) c.546C>T (p.Ala182=) c.1566C>T (p.Ala522=) c.2571C>T (p.Ala857=) c.2751C>T (p.Ala917=) | |
| 20 | g.51784550G>C | CA511025753 | SALL4 | c.2877C>G (p.Ala959=) c.546C>G (p.Ala182=) c.1566C>G (p.Ala522=) c.2571C>G (p.Ala857=) c.2751C>G (p.Ala917=) | |
| 20 | g.51784550G>T | CA511025755 | SALL4 | c.2877C>A (p.Ala959=) c.546C>A (p.Ala182=) c.1566C>A (p.Ala522=) c.2571C>A (p.Ala857=) c.2751C>A (p.Ala917=) | |
| 20 | g.51784551G>A | CA409006138 | SALL4 | c.2876C>T (p.Ala959Val) c.545C>T (p.Ala182Val) c.1565C>T (p.Ala522Val) c.2570C>T (p.Ala857Val) c.2750C>T (p.Ala917Val) | dbSNP |
| 20 | g.51784551G>C | CA409006140 | SALL4 | c.2876C>G (p.Ala959Gly) c.545C>G (p.Ala182Gly) c.1565C>G (p.Ala522Gly) c.2570C>G (p.Ala857Gly) c.2750C>G (p.Ala917Gly) | |
| 20 | g.51784551G>T | CA409006139 | SALL4 | c.2876C>A (p.Ala959Asp) c.545C>A (p.Ala182Asp) c.1565C>A (p.Ala522Asp) c.2570C>A (p.Ala857Asp) c.2750C>A (p.Ala917Asp) | |
| 20 | g.51784552C>A | CA409006141 | SALL4 | c.2875G>T (p.Ala959Ser) c.544G>T (p.Ala182Ser) c.1564G>T (p.Ala522Ser) c.2569G>T (p.Ala857Ser) c.2749G>T (p.Ala917Ser) | |
| 20 | g.51784552C= | CA2369155325 | SALL4 | c.2875G= (p.Ala959=) c.544G= (p.Ala182=) c.1564G= (p.Ala522=) c.2569G= (p.Ala857=) c.2749G= (p.Ala917=) | |
| 20 | g.51784552C>G | CA409006142 | SALL4 | c.2875G>C (p.Ala959Pro) c.544G>C (p.Ala182Pro) c.1564G>C (p.Ala522Pro) c.2569G>C (p.Ala857Pro) c.2749G>C (p.Ala917Pro) | |
| 20 | g.51784552C>T | CA409006143 | SALL4 | c.2875G>A (p.Ala959Thr) c.544G>A (p.Ala182Thr) c.1564G>A (p.Ala522Thr) c.2569G>A (p.Ala857Thr) c.2749G>A (p.Ala917Thr) | dbSNP gnomAD v4 |
| 20 | g.51784553C>A | CA511025760 | SALL4 | c.2874G>T (p.Leu958=) c.543G>T (p.Leu181=) c.1563G>T (p.Leu521=) c.2568G>T (p.Leu856=) c.2748G>T (p.Leu916=) | |
| 20 | g.51784553C>G | CA511025759 | SALL4 | c.2874G>C (p.Leu958=) c.543G>C (p.Leu181=) c.1563G>C (p.Leu521=) c.2568G>C (p.Leu856=) c.2748G>C (p.Leu916=) | |
| 20 | g.51784553C>T | CA511025758 | SALL4 | c.2874G>A (p.Leu958=) c.543G>A (p.Leu181=) c.1563G>A (p.Leu521=) c.2568G>A (p.Leu856=) c.2748G>A (p.Leu916=) | |
| 20 | g.51784554A= | CA2369155326 | SALL4 | c.2873T= (p.Leu958=) c.542T= (p.Leu181=) c.1562T= (p.Leu521=) c.2567T= (p.Leu856=) c.2747T= (p.Leu916=) | |
| 20 | g.51784554A>C | CA409006144 | SALL4 | c.2873T>G (p.Leu958Arg) c.542T>G (p.Leu181Arg) c.1562T>G (p.Leu521Arg) c.2567T>G (p.Leu856Arg) c.2747T>G (p.Leu916Arg) | |
| 20 | g.51784554A>G | CA409006145 | SALL4 | c.2873T>C (p.Leu958Pro) c.542T>C (p.Leu181Pro) c.1562T>C (p.Leu521Pro) c.2567T>C (p.Leu856Pro) c.2747T>C (p.Leu916Pro) | |
| 20 | g.51784554A>T | CA409006146 | SALL4 | c.2873T>A (p.Leu958Gln) c.542T>A (p.Leu181Gln) c.1562T>A (p.Leu521Gln) c.2567T>A (p.Leu856Gln) c.2747T>A (p.Leu916Gln) | ClinVar dbSNP |
| 20 | g.51784555G>A | CA511025762 | SALL4 | c.2872C>T (p.Leu958=) c.541C>T (p.Leu181=) c.1561C>T (p.Leu521=) c.2566C>T (p.Leu856=) c.2746C>T (p.Leu916=) | ClinVar |
| 20 | g.51784555G>C | CA409006147 | SALL4 | c.2872C>G (p.Leu958Val) c.541C>G (p.Leu181Val) c.1561C>G (p.Leu521Val) c.2566C>G (p.Leu856Val) c.2746C>G (p.Leu916Val) | |
| 20 | g.51784555G>T | CA409006148 | SALL4 | c.2872C>A (p.Leu958Met) c.541C>A (p.Leu181Met) c.1561C>A (p.Leu521Met) c.2566C>A (p.Leu856Met) c.2746C>A (p.Leu916Met) | |
| 20 | g.51784556G>A | CA9911980 | SALL4 | c.2871C>T (p.Ile957=) c.540C>T (p.Ile180=) c.1560C>T (p.Ile520=) c.2565C>T (p.Ile855=) c.2745C>T (p.Ile915=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.51784556G>C | CA409006149 | SALL4 | c.2871C>G (p.Ile957Met) c.540C>G (p.Ile180Met) c.1560C>G (p.Ile520Met) c.2565C>G (p.Ile855Met) c.2745C>G (p.Ile915Met) | |
| 20 | g.51784556G= | CA2369155327 | SALL4 | c.2871C= (p.Ile957=) c.540C= (p.Ile180=) c.1560C= (p.Ile520=) c.2565C= (p.Ile855=) c.2745C= (p.Ile915=) | |
| 20 | g.51784556G>T | CA511025769 | SALL4 | c.2871C>A (p.Ile957=) c.540C>A (p.Ile180=) c.1560C>A (p.Ile520=) c.2565C>A (p.Ile855=) c.2745C>A (p.Ile915=) | |
| 20 | g.51784557A>C | CA409006152 | SALL4 | c.2870T>G (p.Ile957Ser) c.539T>G (p.Ile180Ser) c.1559T>G (p.Ile520Ser) c.2564T>G (p.Ile855Ser) c.2744T>G (p.Ile915Ser) | |
| 20 | g.51784557A>G | CA409006150 | SALL4 | c.2870T>C (p.Ile957Thr) c.539T>C (p.Ile180Thr) c.1559T>C (p.Ile520Thr) c.2564T>C (p.Ile855Thr) c.2744T>C (p.Ile915Thr) | |
| 20 | g.51784557A>T | CA409006151 | SALL4 | c.2870T>A (p.Ile957Asn) c.539T>A (p.Ile180Asn) c.1559T>A (p.Ile520Asn) c.2564T>A (p.Ile855Asn) c.2744T>A (p.Ile915Asn) | |
| 20 | g.51784557_51784562dup | CA9911981 | SALL4 | c.2865_2870dup (p.Glu956_Ile957insMetGlu) c.534_539dup (p.Glu179_Ile180insMetGlu) c.1554_1559dup (p.Glu519_Ile520insMetGlu) c.2559_2564dup (p.Glu854_Ile855insMetGlu) c.2739_2744dup (p.Glu914_Ile915insMetGlu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784558T>A | CA409006153 | SALL4 | c.2869A>T (p.Ile957Phe) c.538A>T (p.Ile180Phe) c.1558A>T (p.Ile520Phe) c.2563A>T (p.Ile855Phe) c.2743A>T (p.Ile915Phe) | gnomAD v4 |
| 20 | g.51784558T>C | CA409006154 | SALL4 | c.2869A>G (p.Ile957Val) c.538A>G (p.Ile180Val) c.1558A>G (p.Ile520Val) c.2563A>G (p.Ile855Val) c.2743A>G (p.Ile915Val) | |
| 20 | g.51784558T>G | CA409006155 | SALL4 | c.2869A>C (p.Ile957Leu) c.538A>C (p.Ile180Leu) c.1558A>C (p.Ile520Leu) c.2563A>C (p.Ile855Leu) c.2743A>C (p.Ile915Leu) | |
| 20 | g.51784559T>A | CA9911982 | SALL4 | c.2868A>T (p.Glu956Asp) c.537A>T (p.Glu179Asp) c.1557A>T (p.Glu519Asp) c.2562A>T (p.Glu854Asp) c.2742A>T (p.Glu914Asp) | dbSNP ExAC gnomAD v2 |
| 20 | g.51784559T>C | CA511025774 | SALL4 | c.2868A>G (p.Glu956=) c.537A>G (p.Glu179=) c.1557A>G (p.Glu519=) c.2562A>G (p.Glu854=) c.2742A>G (p.Glu914=) | dbSNP gnomAD v2 |
| 20 | g.51784559T>G | CA409006156 | SALL4 | c.2868A>C (p.Glu956Asp) c.537A>C (p.Glu179Asp) c.1557A>C (p.Glu519Asp) c.2562A>C (p.Glu854Asp) c.2742A>C (p.Glu914Asp) | |
| 20 | g.51784559T= | CA2369155328 | SALL4 | c.2868A= (p.Glu956=) c.537A= (p.Glu179=) c.1557A= (p.Glu519=) c.2562A= (p.Glu854=) c.2742A= (p.Glu914=) | |
| 20 | g.51784560T>A | CA409006157 | SALL4 | c.2867A>T (p.Glu956Val) c.536A>T (p.Glu179Val) c.1556A>T (p.Glu519Val) c.2561A>T (p.Glu854Val) c.2741A>T (p.Glu914Val) | |
| 20 | g.51784560T>C | CA409006158 | SALL4 | c.2867A>G (p.Glu956Gly) c.536A>G (p.Glu179Gly) c.1556A>G (p.Glu519Gly) c.2561A>G (p.Glu854Gly) c.2741A>G (p.Glu914Gly) | |
| 20 | g.51784560T>G | CA409006159 | SALL4 | c.2867A>C (p.Glu956Ala) c.536A>C (p.Glu179Ala) c.1556A>C (p.Glu519Ala) c.2561A>C (p.Glu854Ala) c.2741A>C (p.Glu914Ala) | |
| 20 | g.51784561C>A | CA409006160 | SALL4 | c.2866G>T (p.Glu956Ter) c.535G>T (p.Glu179Ter) c.1555G>T (p.Glu519Ter) c.2560G>T (p.Glu854Ter) c.2740G>T (p.Glu914Ter) | |
| 20 | g.51784561C>G | CA409006161 | SALL4 | c.2866G>C (p.Glu956Gln) c.535G>C (p.Glu179Gln) c.1555G>C (p.Glu519Gln) c.2560G>C (p.Glu854Gln) c.2740G>C (p.Glu914Gln) | |
| 20 | g.51784561C>T | CA409006162 | SALL4 | c.2866G>A (p.Glu956Lys) c.535G>A (p.Glu179Lys) c.1555G>A (p.Glu519Lys) c.2560G>A (p.Glu854Lys) c.2740G>A (p.Glu914Lys) | gnomAD v4 |
| 20 | g.51784562C>A | CA409006164 | SALL4 | c.2865G>T (p.Lys955Asn) c.534G>T (p.Lys178Asn) c.1554G>T (p.Lys518Asn) c.2559G>T (p.Lys853Asn) c.2739G>T (p.Lys913Asn) | |
| 20 | g.51784562C>G | CA409006163 | SALL4 | c.2865G>C (p.Lys955Asn) c.534G>C (p.Lys178Asn) c.1554G>C (p.Lys518Asn) c.2559G>C (p.Lys853Asn) c.2739G>C (p.Lys913Asn) | |
| 20 | g.51784562C>T | CA511025778 | SALL4 | c.2865G>A (p.Lys955=) c.534G>A (p.Lys178=) c.1554G>A (p.Lys518=) c.2559G>A (p.Lys853=) c.2739G>A (p.Lys913=) | |
| 20 | g.51784563T>A | CA409006165 | SALL4 | c.2864A>T (p.Lys955Met) c.533A>T (p.Lys178Met) c.1553A>T (p.Lys518Met) c.2558A>T (p.Lys853Met) c.2738A>T (p.Lys913Met) | |
| 20 | g.51784563T>C | CA9911983 | SALL4 | c.2864A>G (p.Lys955Arg) c.533A>G (p.Lys178Arg) c.1553A>G (p.Lys518Arg) c.2558A>G (p.Lys853Arg) c.2738A>G (p.Lys913Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784563T>G | CA409006166 | SALL4 | c.2864A>C (p.Lys955Thr) c.533A>C (p.Lys178Thr) c.1553A>C (p.Lys518Thr) c.2558A>C (p.Lys853Thr) c.2738A>C (p.Lys913Thr) | |
| 20 | g.51784563T= | CA2369155329 | SALL4 | c.2864A= (p.Lys955=) c.533A= (p.Lys178=) c.1553A= (p.Lys518=) c.2558A= (p.Lys853=) c.2738A= (p.Lys913=) | |
| 20 | g.51784564T>A | CA409006167 | SALL4 | c.2863A>T (p.Lys955Ter) c.532A>T (p.Lys178Ter) c.1552A>T (p.Lys518Ter) c.2557A>T (p.Lys853Ter) c.2737A>T (p.Lys913Ter) | |
| 20 | g.51784564T>C | CA409006168 | SALL4 | c.2863A>G (p.Lys955Glu) c.532A>G (p.Lys178Glu) c.1552A>G (p.Lys518Glu) c.2557A>G (p.Lys853Glu) c.2737A>G (p.Lys913Glu) | |
| 20 | g.51784564T>G | CA409006169 | SALL4 | c.2863A>C (p.Lys955Gln) c.532A>C (p.Lys178Gln) c.1552A>C (p.Lys518Gln) c.2557A>C (p.Lys853Gln) c.2737A>C (p.Lys913Gln) | |
| 20 | g.51784565G>A | CA511025783 | SALL4 | c.2862C>T (p.Pro954=) c.531C>T (p.Pro177=) c.1551C>T (p.Pro517=) c.2556C>T (p.Pro852=) c.2736C>T (p.Pro912=) | |
| 20 | g.51784565G>C | CA511025785 | SALL4 | c.2862C>G (p.Pro954=) c.531C>G (p.Pro177=) c.1551C>G (p.Pro517=) c.2556C>G (p.Pro852=) c.2736C>G (p.Pro912=) | dbSNP gnomAD v4 |
| 20 | g.51784565G= | CA2369155330 | SALL4 | c.2862C= (p.Pro954=) c.531C= (p.Pro177=) c.1551C= (p.Pro517=) c.2556C= (p.Pro852=) c.2736C= (p.Pro912=) | |
| 20 | g.51784565G>T | CA511025788 | SALL4 | c.2862C>A (p.Pro954=) c.531C>A (p.Pro177=) c.1551C>A (p.Pro517=) c.2556C>A (p.Pro852=) c.2736C>A (p.Pro912=) | |
| 20 | g.51784566G>A | CA409006172 | SALL4 | c.2861C>T (p.Pro954Leu) c.530C>T (p.Pro177Leu) c.1550C>T (p.Pro517Leu) c.2555C>T (p.Pro852Leu) c.2735C>T (p.Pro912Leu) | dbSNP |
| 20 | g.51784566G>C | CA409006170 | SALL4 | c.2861C>G (p.Pro954Arg) c.530C>G (p.Pro177Arg) c.1550C>G (p.Pro517Arg) c.2555C>G (p.Pro852Arg) c.2735C>G (p.Pro912Arg) | |
| 20 | g.51784566G= | CA2369155331 | SALL4 | c.2861C= (p.Pro954=) c.530C= (p.Pro177=) c.1550C= (p.Pro517=) c.2555C= (p.Pro852=) c.2735C= (p.Pro912=) | |
| 20 | g.51784566G>T | CA409006171 | SALL4 | c.2861C>A (p.Pro954His) c.530C>A (p.Pro177His) c.1550C>A (p.Pro517His) c.2555C>A (p.Pro852His) c.2735C>A (p.Pro912His) | |
| 20 | g.51784567G>A | CA409006173 | SALL4 | c.2860C>T (p.Pro954Ser) c.529C>T (p.Pro177Ser) c.1549C>T (p.Pro517Ser) c.2554C>T (p.Pro852Ser) c.2734C>T (p.Pro912Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784567G>C | CA409006174 | SALL4 | c.2860C>G (p.Pro954Ala) c.529C>G (p.Pro177Ala) c.1549C>G (p.Pro517Ala) c.2554C>G (p.Pro852Ala) c.2734C>G (p.Pro912Ala) | dbSNP |
| 20 | g.51784567G= | CA2369155332 | SALL4 | c.2860C= (p.Pro954=) c.529C= (p.Pro177=) c.1549C= (p.Pro517=) c.2554C= (p.Pro852=) c.2734C= (p.Pro912=) | |
| 20 | g.51784567G>T | CA409006175 | SALL4 | c.2860C>A (p.Pro954Thr) c.529C>A (p.Pro177Thr) c.1549C>A (p.Pro517Thr) c.2554C>A (p.Pro852Thr) c.2734C>A (p.Pro912Thr) | |
| 20 | g.51784568A= | CA2369155333 | SALL4 | c.2859T= (p.Phe953=) c.528T= (p.Phe176=) c.1548T= (p.Phe516=) c.2553T= (p.Phe851=) c.2733T= (p.Phe911=) | |
| 20 | g.51784568A>C | CA409006176 | SALL4 | c.2859T>G (p.Phe953Leu) c.528T>G (p.Phe176Leu) c.1548T>G (p.Phe516Leu) c.2553T>G (p.Phe851Leu) c.2733T>G (p.Phe911Leu) | |
| 20 | g.51784568A>G | CA511025796 | SALL4 | c.2859T>C (p.Phe953=) c.528T>C (p.Phe176=) c.1548T>C (p.Phe516=) c.2553T>C (p.Phe851=) c.2733T>C (p.Phe911=) | |
| 20 | g.51784568A>T | CA9911984 | SALL4 | c.2859T>A (p.Phe953Leu) c.528T>A (p.Phe176Leu) c.1548T>A (p.Phe516Leu) c.2553T>A (p.Phe851Leu) c.2733T>A (p.Phe911Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784569A>C | CA409006177 | SALL4 | c.2858T>G (p.Phe953Cys) c.527T>G (p.Phe176Cys) c.1547T>G (p.Phe516Cys) c.2552T>G (p.Phe851Cys) c.2732T>G (p.Phe911Cys) | |
| 20 | g.51784569A>G | CA409006179 | SALL4 | c.2858T>C (p.Phe953Ser) c.527T>C (p.Phe176Ser) c.1547T>C (p.Phe516Ser) c.2552T>C (p.Phe851Ser) c.2732T>C (p.Phe911Ser) | |
| 20 | g.51784569A>T | CA409006178 | SALL4 | c.2858T>A (p.Phe953Tyr) c.527T>A (p.Phe176Tyr) c.1547T>A (p.Phe516Tyr) c.2552T>A (p.Phe851Tyr) c.2732T>A (p.Phe911Tyr) | |
| 20 | g.51784570A>C | CA409006180 | SALL4 | c.2857T>G (p.Phe953Val) c.526T>G (p.Phe176Val) c.1546T>G (p.Phe516Val) c.2551T>G (p.Phe851Val) c.2731T>G (p.Phe911Val) | |
| 20 | g.51784570A>G | CA409006181 | SALL4 | c.2857T>C (p.Phe953Leu) c.526T>C (p.Phe176Leu) c.1546T>C (p.Phe516Leu) c.2551T>C (p.Phe851Leu) c.2731T>C (p.Phe911Leu) | |
| 20 | g.51784570A>T | CA409006182 | SALL4 | c.2857T>A (p.Phe953Ile) c.526T>A (p.Phe176Ile) c.1546T>A (p.Phe516Ile) c.2551T>A (p.Phe851Ile) c.2731T>A (p.Phe911Ile) | |
| 20 | g.51784571G>A | CA315366206 | SALL4 | c.2856C>T (p.Ile952=) c.525C>T (p.Ile175=) c.1545C>T (p.Ile515=) c.2550C>T (p.Ile850=) c.2730C>T (p.Ile910=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784571G>C | CA409006183 | SALL4 | c.2856C>G (p.Ile952Met) c.525C>G (p.Ile175Met) c.1545C>G (p.Ile515Met) c.2550C>G (p.Ile850Met) c.2730C>G (p.Ile910Met) | |
| 20 | g.51784571G= | CA2369155334 | SALL4 | c.2856C= (p.Ile952=) c.525C= (p.Ile175=) c.1545C= (p.Ile515=) c.2550C= (p.Ile850=) c.2730C= (p.Ile910=) | |
| 20 | g.51784571G>T | CA511025802 | SALL4 | c.2856C>A (p.Ile952=) c.525C>A (p.Ile175=) c.1545C>A (p.Ile515=) c.2550C>A (p.Ile850=) c.2730C>A (p.Ile910=) | |
| 20 | g.51784572A>C | CA409006184 | SALL4 | c.2855T>G (p.Ile952Ser) c.524T>G (p.Ile175Ser) c.1544T>G (p.Ile515Ser) c.2549T>G (p.Ile850Ser) c.2729T>G (p.Ile910Ser) | |
| 20 | g.51784572A>G | CA409006185 | SALL4 | c.2855T>C (p.Ile952Thr) c.524T>C (p.Ile175Thr) c.1544T>C (p.Ile515Thr) c.2549T>C (p.Ile850Thr) c.2729T>C (p.Ile910Thr) | |
| 20 | g.51784572A>T | CA409006186 | SALL4 | c.2855T>A (p.Ile952Asn) c.524T>A (p.Ile175Asn) c.1544T>A (p.Ile515Asn) c.2549T>A (p.Ile850Asn) c.2729T>A (p.Ile910Asn) | |
| 20 | g.51784573T>A | CA409006187 | SALL4 | c.2854A>T (p.Ile952Phe) c.523A>T (p.Ile175Phe) c.1543A>T (p.Ile515Phe) c.2548A>T (p.Ile850Phe) c.2728A>T (p.Ile910Phe) | |
| 20 | g.51784573T>C | CA409006188 | SALL4 | c.2854A>G (p.Ile952Val) c.523A>G (p.Ile175Val) c.1543A>G (p.Ile515Val) c.2548A>G (p.Ile850Val) c.2728A>G (p.Ile910Val) | |
| 20 | g.51784573T>G | CA409006189 | SALL4 | c.2854A>C (p.Ile952Leu) c.523A>C (p.Ile175Leu) c.1543A>C (p.Ile515Leu) c.2548A>C (p.Ile850Leu) c.2728A>C (p.Ile910Leu) | |
| 20 | g.51784574T>A | CA409006190 | SALL4 | c.2853A>T (p.Glu951Asp) c.522A>T (p.Glu174Asp) c.1542A>T (p.Glu514Asp) c.2547A>T (p.Glu849Asp) c.2727A>T (p.Glu909Asp) | |
| 20 | g.51784574T>C | CA511025806 | SALL4 | c.2853A>G (p.Glu951=) c.522A>G (p.Glu174=) c.1542A>G (p.Glu514=) c.2547A>G (p.Glu849=) c.2727A>G (p.Glu909=) | |
| 20 | g.51784574T>G | CA409006191 | SALL4 | c.2853A>C (p.Glu951Asp) c.522A>C (p.Glu174Asp) c.1542A>C (p.Glu514Asp) c.2547A>C (p.Glu849Asp) c.2727A>C (p.Glu909Asp) | gnomAD v4 |
| 20 | g.51784575T>A | CA409006192 | SALL4 | c.2852A>T (p.Glu951Val) c.521A>T (p.Glu174Val) c.1541A>T (p.Glu514Val) c.2546A>T (p.Glu849Val) c.2726A>T (p.Glu909Val) | |
| 20 | g.51784575T>C | CA409006194 | SALL4 | c.2852A>G (p.Glu951Gly) c.521A>G (p.Glu174Gly) c.1541A>G (p.Glu514Gly) c.2546A>G (p.Glu849Gly) c.2726A>G (p.Glu909Gly) | |
| 20 | g.51784575T>G | CA409006193 | SALL4 | c.2852A>C (p.Glu951Ala) c.521A>C (p.Glu174Ala) c.1541A>C (p.Glu514Ala) c.2546A>C (p.Glu849Ala) c.2726A>C (p.Glu909Ala) | |
| 20 | g.51784576C>A | CA409006195 | SALL4 | c.2851G>T (p.Glu951Ter) c.520G>T (p.Glu174Ter) c.1540G>T (p.Glu514Ter) c.2545G>T (p.Glu849Ter) c.2725G>T (p.Glu909Ter) | |
| 20 | g.51784576C>G | CA409006196 | SALL4 | c.2851G>C (p.Glu951Gln) c.520G>C (p.Glu174Gln) c.1540G>C (p.Glu514Gln) c.2545G>C (p.Glu849Gln) c.2725G>C (p.Glu909Gln) | |
| 20 | g.51784576C>T | CA409006197 | SALL4 | c.2851G>A (p.Glu951Lys) c.520G>A (p.Glu174Lys) c.1540G>A (p.Glu514Lys) c.2545G>A (p.Glu849Lys) c.2725G>A (p.Glu909Lys) | |
| 20 | g.51784577T>A | CA511025810 | SALL4 | c.2850A>T (p.Ser950=) c.519A>T (p.Ser173=) c.1539A>T (p.Ser513=) c.2544A>T (p.Ser848=) c.2724A>T (p.Ser908=) | |
| 20 | g.51784577T>C | CA511025813 | SALL4 | c.2850A>G (p.Ser950=) c.519A>G (p.Ser173=) c.1539A>G (p.Ser513=) c.2544A>G (p.Ser848=) c.2724A>G (p.Ser908=) | |
| 20 | g.51784577T>G | CA511025815 | SALL4 | c.2850A>C (p.Ser950=) c.519A>C (p.Ser173=) c.1539A>C (p.Ser513=) c.2544A>C (p.Ser848=) c.2724A>C (p.Ser908=) | |
| 20 | g.51784578G>A | CA409006198 | SALL4 | c.2849C>T (p.Ser950Leu) c.518C>T (p.Ser173Leu) c.1538C>T (p.Ser513Leu) c.2543C>T (p.Ser848Leu) c.2723C>T (p.Ser908Leu) | |
| 20 | g.51784578G>C | CA409006199 | SALL4 | c.2849C>G (p.Ser950Ter) c.518C>G (p.Ser173Ter) c.1538C>G (p.Ser513Ter) c.2543C>G (p.Ser848Ter) c.2723C>G (p.Ser908Ter) | |
| 20 | g.51784578G= | CA2369155336 | SALL4 | c.2849C= (p.Ser950=) c.518C= (p.Ser173=) c.1538C= (p.Ser513=) c.2543C= (p.Ser848=) c.2723C= (p.Ser908=) | |
| 20 | g.51784578G>T | CA315366214 | SALL4 | c.2849C>A (p.Ser950Ter) c.518C>A (p.Ser173Ter) c.1538C>A (p.Ser513Ter) c.2543C>A (p.Ser848Ter) c.2723C>A (p.Ser908Ter) | dbSNP gnomAD v4 |
| 20 | g.51784578_51784579delinsGA | CA2369155335 | SALL4 | c.2848_2849delinsTC (p.Ser950=) c.517_518delinsTC (p.Ser173=) c.1537_1538delinsTC (p.Ser513=) c.2542_2543delinsTC (p.Ser848=) c.2722_2723delinsTC (p.Ser908=) | |
| 20 | g.51784578_51784579delinsTT | CA16620940 | SALL4 | c.2848_2849delinsAA (p.Ser950Lys) c.517_518delinsAA (p.Ser173Lys) c.1537_1538delinsAA (p.Ser513Lys) c.2542_2543delinsAA (p.Ser848Lys) c.2722_2723delinsAA (p.Ser908Lys) | ClinVar dbSNP |
| 20 | g.51784579A= | CA2369155337 | SALL4 | c.2848T= (p.Ser950=) c.517T= (p.Ser173=) c.1537T= (p.Ser513=) c.2542T= (p.Ser848=) c.2722T= (p.Ser908=) | |
| 20 | g.51784579A>C | CA409006200 | SALL4 | c.2848T>G (p.Ser950Ala) c.517T>G (p.Ser173Ala) c.1537T>G (p.Ser513Ala) c.2542T>G (p.Ser848Ala) c.2722T>G (p.Ser908Ala) | |
| 20 | g.51784579A>G | CA409006201 | SALL4 | c.2848T>C (p.Ser950Pro) c.517T>C (p.Ser173Pro) c.1537T>C (p.Ser513Pro) c.2542T>C (p.Ser848Pro) c.2722T>C (p.Ser908Pro) | |
| 20 | g.51784579A>T | CA315366225 | SALL4 | c.2848T>A (p.Ser950Thr) c.517T>A (p.Ser173Thr) c.1537T>A (p.Ser513Thr) c.2542T>A (p.Ser848Thr) c.2722T>A (p.Ser908Thr) | dbSNP gnomAD v4 |
| 20 | g.51784580G>A | CA511025818 | SALL4 | c.2847C>T (p.Val949=) c.516C>T (p.Val172=) c.1536C>T (p.Val512=) c.2541C>T (p.Val847=) c.2721C>T (p.Val907=) | |
| 20 | g.51784580G>C | CA511025820 | SALL4 | c.2847C>G (p.Val949=) c.516C>G (p.Val172=) c.1536C>G (p.Val512=) c.2541C>G (p.Val847=) c.2721C>G (p.Val907=) | |
| 20 | g.51784580G>T | CA511025819 | SALL4 | c.2847C>A (p.Val949=) c.516C>A (p.Val172=) c.1536C>A (p.Val512=) c.2541C>A (p.Val847=) c.2721C>A (p.Val907=) | |
| 20 | g.51784581A= | CA2369155338 | SALL4 | c.2846T= (p.Val949=) c.515T= (p.Val172=) c.1535T= (p.Val512=) c.2540T= (p.Val847=) c.2720T= (p.Val907=) | |
| 20 | g.51784581A>C | CA409006202 | SALL4 | c.2846T>G (p.Val949Gly) c.515T>G (p.Val172Gly) c.1535T>G (p.Val512Gly) c.2540T>G (p.Val847Gly) c.2720T>G (p.Val907Gly) | |
| 20 | g.51784581A>G | CA315366236 | SALL4 | c.2846T>C (p.Val949Ala) c.515T>C (p.Val172Ala) c.1535T>C (p.Val512Ala) c.2540T>C (p.Val847Ala) c.2720T>C (p.Val907Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784581A>T | CA409006203 | SALL4 | c.2846T>A (p.Val949Asp) c.515T>A (p.Val172Asp) c.1535T>A (p.Val512Asp) c.2540T>A (p.Val847Asp) c.2720T>A (p.Val907Asp) | |
| 20 | g.51784582C>A | CA409006206 | SALL4 | c.2845G>T (p.Val949Phe) c.514G>T (p.Val172Phe) c.1534G>T (p.Val512Phe) c.2539G>T (p.Val847Phe) c.2719G>T (p.Val907Phe) | |
| 20 | g.51784582C= | CA2369155339 | SALL4 | c.2845G= (p.Val949=) c.514G= (p.Val172=) c.1534G= (p.Val512=) c.2539G= (p.Val847=) c.2719G= (p.Val907=) | |
| 20 | g.51784582C>G | CA409006204 | SALL4 | c.2845G>C (p.Val949Leu) c.514G>C (p.Val172Leu) c.1534G>C (p.Val512Leu) c.2539G>C (p.Val847Leu) c.2719G>C (p.Val907Leu) | |
| 20 | g.51784582C>T | CA409006205 | SALL4 | c.2845G>A (p.Val949Ile) c.514G>A (p.Val172Ile) c.1534G>A (p.Val512Ile) c.2539G>A (p.Val847Ile) c.2719G>A (p.Val907Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784583T>A | CA409006207 | SALL4 | c.2844A>T (p.Arg948Ser) c.513A>T (p.Arg171Ser) c.1533A>T (p.Arg511Ser) c.2538A>T (p.Arg846Ser) c.2718A>T (p.Arg906Ser) | |
| 20 | g.51784583T>C | CA9911985 | SALL4 | c.2844A>G (p.Arg948=) c.513A>G (p.Arg171=) c.1533A>G (p.Arg511=) c.2538A>G (p.Arg846=) c.2718A>G (p.Arg906=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784583T>G | CA409006208 | SALL4 | c.2844A>C (p.Arg948Ser) c.513A>C (p.Arg171Ser) c.1533A>C (p.Arg511Ser) c.2538A>C (p.Arg846Ser) c.2718A>C (p.Arg906Ser) | |
| 20 | g.51784583T= | CA2369155340 | SALL4 | c.2844A= (p.Arg948=) c.513A= (p.Arg171=) c.1533A= (p.Arg511=) c.2538A= (p.Arg846=) c.2718A= (p.Arg906=) | |
| 20 | g.51784584C>A | CA409006209 | SALL4 | c.2843G>T (p.Arg948Ile) c.512G>T (p.Arg171Ile) c.1532G>T (p.Arg511Ile) c.2537G>T (p.Arg846Ile) c.2717G>T (p.Arg906Ile) | dbSNP |
| 20 | g.51784584C= | CA2369155341 | SALL4 | c.2843G= (p.Arg948=) c.512G= (p.Arg171=) c.1532G= (p.Arg511=) c.2537G= (p.Arg846=) c.2717G= (p.Arg906=) | |
| 20 | g.51784584C>G | CA315366254 | SALL4 | c.2843G>C (p.Arg948Thr) c.512G>C (p.Arg171Thr) c.1532G>C (p.Arg511Thr) c.2537G>C (p.Arg846Thr) c.2717G>C (p.Arg906Thr) | dbSNP |
| 20 | g.51784584C>T | CA409006210 | SALL4 | c.2843G>A (p.Arg948Lys) c.512G>A (p.Arg171Lys) c.1532G>A (p.Arg511Lys) c.2537G>A (p.Arg846Lys) c.2717G>A (p.Arg906Lys) | gnomAD v4 |
| 20 | g.51784584_51784586delinsCTT | CA2369155342 | SALL4 | c.2841_2843delinsAAG (p.Lys947=) c.510_512delinsAAG (p.Lys170=) c.1530_1532delinsAAG (p.Lys510=) c.2535_2537delinsAAG (p.Lys845=) c.2715_2717delinsAAG (p.Lys905=) | |
| 20 | g.51784585T>A | CA409006211 | SALL4 | c.2842A>T (p.Arg948Ter) c.511A>T (p.Arg171Ter) c.1531A>T (p.Arg511Ter) c.2536A>T (p.Arg846Ter) c.2716A>T (p.Arg906Ter) | |
| 20 | g.51784585T>C | CA409006212 | SALL4 | c.2842A>G (p.Arg948Gly) c.511A>G (p.Arg171Gly) c.1531A>G (p.Arg511Gly) c.2536A>G (p.Arg846Gly) c.2716A>G (p.Arg906Gly) | |
| 20 | g.51784585T>G | CA511025829 | SALL4 | c.2842A>C (p.Arg948=) c.511A>C (p.Arg171=) c.1531A>C (p.Arg511=) c.2536A>C (p.Arg846=) c.2716A>C (p.Arg906=) | |
| 20 | g.51784589del | CA915940763 | SALL4 | c.2842del (p.Arg948GlufsTer15) c.511del (p.Arg171GlufsTer15) c.1531del (p.Arg511GlufsTer15) c.2536del (p.Arg846GlufsTer15) c.2716del (p.Arg906GlufsTer15) | |
| 20 | g.51784588_51784589del | CA658799372 | SALL4 | c.2841_2842del (p.Arg948SerfsTer?) c.510_511del (p.Arg171SerfsTer?) c.1530_1531del (p.Arg511SerfsTer?) c.2535_2536del (p.Arg846SerfsTer?) c.2715_2716del (p.Arg906SerfsTer?) | ClinVar dbSNP gnomAD v4 |
| 20 | g.51784586T>A | CA409006213 | SALL4 | c.2841A>T (p.Lys947Asn) c.510A>T (p.Lys170Asn) c.1530A>T (p.Lys510Asn) c.2535A>T (p.Lys845Asn) c.2715A>T (p.Lys905Asn) | |
| 20 | g.51784586T>C | CA511025831 | SALL4 | c.2841A>G (p.Lys947=) c.510A>G (p.Lys170=) c.1530A>G (p.Lys510=) c.2535A>G (p.Lys845=) c.2715A>G (p.Lys905=) | |
| 20 | g.51784586T>G | CA409006214 | SALL4 | c.2841A>C (p.Lys947Asn) c.510A>C (p.Lys170Asn) c.1530A>C (p.Lys510Asn) c.2535A>C (p.Lys845Asn) c.2715A>C (p.Lys905Asn) | |
| 20 | g.51784587T>A | CA409006217 | SALL4 | c.2840A>T (p.Lys947Ile) c.509A>T (p.Lys170Ile) c.1529A>T (p.Lys510Ile) c.2534A>T (p.Lys845Ile) c.2714A>T (p.Lys905Ile) | |
| 20 | g.51784587T>C | CA409006216 | SALL4 | c.2840A>G (p.Lys947Arg) c.509A>G (p.Lys170Arg) c.1529A>G (p.Lys510Arg) c.2534A>G (p.Lys845Arg) c.2714A>G (p.Lys905Arg) | dbSNP gnomAD v4 |
| 20 | g.51784587T>G | CA409006215 | SALL4 | c.2840A>C (p.Lys947Thr) c.509A>C (p.Lys170Thr) c.1529A>C (p.Lys510Thr) c.2534A>C (p.Lys845Thr) c.2714A>C (p.Lys905Thr) | |
| 20 | g.51784587T= | CA2369155343 | SALL4 | c.2840A= (p.Lys947=) c.509A= (p.Lys170=) c.1529A= (p.Lys510=) c.2534A= (p.Lys845=) c.2714A= (p.Lys905=) | |
| 20 | g.51784588T>A | CA409006218 | SALL4 | c.2839A>T (p.Lys947Ter) c.508A>T (p.Lys170Ter) c.1528A>T (p.Lys510Ter) c.2533A>T (p.Lys845Ter) c.2713A>T (p.Lys905Ter) | |
| 20 | g.51784588T>C | CA409006219 | SALL4 | c.2839A>G (p.Lys947Glu) c.508A>G (p.Lys170Glu) c.1528A>G (p.Lys510Glu) c.2533A>G (p.Lys845Glu) c.2713A>G (p.Lys905Glu) | |
| 20 | g.51784588T>G | CA409006220 | SALL4 | c.2839A>C (p.Lys947Gln) c.508A>C (p.Lys170Gln) c.1528A>C (p.Lys510Gln) c.2533A>C (p.Lys845Gln) c.2713A>C (p.Lys905Gln) | |
| 20 | g.51784589T>A | CA511025835 | SALL4 | c.2838A>T (p.Gly946=) c.507A>T (p.Gly169=) c.1527A>T (p.Gly509=) c.2532A>T (p.Gly844=) c.2712A>T (p.Gly904=) | |
| 20 | g.51784589T>C | CA511025833 | SALL4 | c.2838A>G (p.Gly946=) c.507A>G (p.Gly169=) c.1527A>G (p.Gly509=) c.2532A>G (p.Gly844=) c.2712A>G (p.Gly904=) | |
| 20 | g.51784589T>G | CA511025834 | SALL4 | c.2838A>C (p.Gly946=) c.507A>C (p.Gly169=) c.1527A>C (p.Gly509=) c.2532A>C (p.Gly844=) c.2712A>C (p.Gly904=) | |
| 20 | g.51784590C>A | CA409006221 | SALL4 | c.2837G>T (p.Gly946Val) c.506G>T (p.Gly169Val) c.1526G>T (p.Gly509Val) c.2531G>T (p.Gly844Val) c.2711G>T (p.Gly904Val) | |
| 20 | g.51784590C>G | CA409006222 | SALL4 | c.2837G>C (p.Gly946Ala) c.506G>C (p.Gly169Ala) c.1526G>C (p.Gly509Ala) c.2531G>C (p.Gly844Ala) c.2711G>C (p.Gly904Ala) | |
| 20 | g.51784590C>T | CA409006223 | SALL4 | c.2837G>A (p.Gly946Glu) c.506G>A (p.Gly169Glu) c.1526G>A (p.Gly509Glu) c.2531G>A (p.Gly844Glu) c.2711G>A (p.Gly904Glu) | |
| 20 | g.51784591C>A | CA409006224 | SALL4 | c.2836G>T (p.Gly946Ter) c.505G>T (p.Gly169Ter) c.1525G>T (p.Gly509Ter) c.2530G>T (p.Gly844Ter) c.2710G>T (p.Gly904Ter) | |
| 20 | g.51784591C= | CA2369155344 | SALL4 | c.2836G= (p.Gly946=) c.505G= (p.Gly169=) c.1525G= (p.Gly509=) c.2530G= (p.Gly844=) c.2710G= (p.Gly904=) | |
| 20 | g.51784591C>G | CA409006225 | SALL4 | c.2836G>C (p.Gly946Arg) c.505G>C (p.Gly169Arg) c.1525G>C (p.Gly509Arg) c.2530G>C (p.Gly844Arg) c.2710G>C (p.Gly904Arg) | |
| 20 | g.51784591C>T | CA315366255 | SALL4 | c.2836G>A (p.Gly946Arg) c.505G>A (p.Gly169Arg) c.1525G>A (p.Gly509Arg) c.2530G>A (p.Gly844Arg) c.2710G>A (p.Gly904Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784592G>A | CA9911986 | SALL4 | c.2835C>T (p.Asp945=) c.504C>T (p.Asp168=) c.1524C>T (p.Asp508=) c.2529C>T (p.Asp843=) c.2709C>T (p.Asp903=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784592G>C | CA409006226 | SALL4 | c.2835C>G (p.Asp945Glu) c.504C>G (p.Asp168Glu) c.1524C>G (p.Asp508Glu) c.2529C>G (p.Asp843Glu) c.2709C>G (p.Asp903Glu) | |
| 20 | g.51784592G= | CA2369155345 | SALL4 | c.2835C= (p.Asp945=) c.504C= (p.Asp168=) c.1524C= (p.Asp508=) c.2529C= (p.Asp843=) c.2709C= (p.Asp903=) | |
| 20 | g.51784592G>T | CA409006227 | SALL4 | c.2835C>A (p.Asp945Glu) c.504C>A (p.Asp168Glu) c.1524C>A (p.Asp508Glu) c.2529C>A (p.Asp843Glu) c.2709C>A (p.Asp903Glu) | dbSNP gnomAD v4 |
| 20 | g.51784593T>A | CA409006230 | SALL4 | c.2834A>T (p.Asp945Val) c.503A>T (p.Asp168Val) c.1523A>T (p.Asp508Val) c.2528A>T (p.Asp843Val) c.2708A>T (p.Asp903Val) | |
| 20 | g.51784593T>C | CA409006229 | SALL4 | c.2834A>G (p.Asp945Gly) c.503A>G (p.Asp168Gly) c.1523A>G (p.Asp508Gly) c.2528A>G (p.Asp843Gly) c.2708A>G (p.Asp903Gly) | dbSNP gnomAD v4 |
| 20 | g.51784593T>G | CA409006228 | SALL4 | c.2834A>C (p.Asp945Ala) c.503A>C (p.Asp168Ala) c.1523A>C (p.Asp508Ala) c.2528A>C (p.Asp843Ala) c.2708A>C (p.Asp903Ala) | |
| 20 | g.51784593T= | CA2369155346 | SALL4 | c.2834A= (p.Asp945=) c.503A= (p.Asp168=) c.1523A= (p.Asp508=) c.2528A= (p.Asp843=) c.2708A= (p.Asp903=) | |
| 20 | g.51784594C>A | CA409006231 | SALL4 | c.2833G>T (p.Asp945Tyr) c.502G>T (p.Asp168Tyr) c.1522G>T (p.Asp508Tyr) c.2527G>T (p.Asp843Tyr) c.2707G>T (p.Asp903Tyr) | |
| 20 | g.51784594C= | CA2369155347 | SALL4 | c.2833G= (p.Asp945=) c.502G= (p.Asp168=) c.1522G= (p.Asp508=) c.2527G= (p.Asp843=) c.2707G= (p.Asp903=) | |
| 20 | g.51784594C>G | CA409006232 | SALL4 | c.2833G>C (p.Asp945His) c.502G>C (p.Asp168His) c.1522G>C (p.Asp508His) c.2527G>C (p.Asp843His) c.2707G>C (p.Asp903His) | |
| 20 | g.51784594C>T | CA9911987 | SALL4 | c.2833G>A (p.Asp945Asn) c.502G>A (p.Asp168Asn) c.1522G>A (p.Asp508Asn) c.2527G>A (p.Asp843Asn) c.2707G>A (p.Asp903Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784594_51784595delinsTT | CA645610836 | SALL4 | c.2832_2833delinsAA (p.Asp945Asn) c.501_502delinsAA (p.Asp168Asn) c.1521_1522delinsAA (p.Asp508Asn) c.2526_2527delinsAA (p.Asp843Asn) c.2706_2707delinsAA (p.Asp903Asn) | COSMIC |
| 20 | g.51784595C>A | CA511025843 | SALL4 | c.2832G>T (p.Thr944=) c.501G>T (p.Thr167=) c.1521G>T (p.Thr507=) c.2526G>T (p.Thr842=) c.2706G>T (p.Thr902=) | |
| 20 | g.51784595C= | CA2369155348 | SALL4 | c.2832G= (p.Thr944=) c.501G= (p.Thr167=) c.1521G= (p.Thr507=) c.2526G= (p.Thr842=) c.2706G= (p.Thr902=) | |
| 20 | g.51784595C>G | CA511025844 | SALL4 | c.2832G>C (p.Thr944=) c.501G>C (p.Thr167=) c.1521G>C (p.Thr507=) c.2526G>C (p.Thr842=) c.2706G>C (p.Thr902=) | |
| 20 | g.51784595C>T | CA9911988 | SALL4 | c.2832G>A (p.Thr944=) c.501G>A (p.Thr167=) c.1521G>A (p.Thr507=) c.2526G>A (p.Thr842=) c.2706G>A (p.Thr902=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784596G>A | CA409006233 | SALL4 | c.2831C>T (p.Thr944Met) c.500C>T (p.Thr167Met) c.1520C>T (p.Thr507Met) c.2525C>T (p.Thr842Met) c.2705C>T (p.Thr902Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784596G>C | CA409006234 | SALL4 | c.2831C>G (p.Thr944Arg) c.500C>G (p.Thr167Arg) c.1520C>G (p.Thr507Arg) c.2525C>G (p.Thr842Arg) c.2705C>G (p.Thr902Arg) | gnomAD v4 |
| 20 | g.51784596G= | CA2369155349 | SALL4 | c.2831C= (p.Thr944=) c.500C= (p.Thr167=) c.1520C= (p.Thr507=) c.2525C= (p.Thr842=) c.2705C= (p.Thr902=) | |
| 20 | g.51784596G>T | CA409006235 | SALL4 | c.2831C>A (p.Thr944Lys) c.500C>A (p.Thr167Lys) c.1520C>A (p.Thr507Lys) c.2525C>A (p.Thr842Lys) c.2705C>A (p.Thr902Lys) | |
| 20 | g.51784597T>A | CA409006236 | SALL4 | c.2830A>T (p.Thr944Ser) c.499A>T (p.Thr167Ser) c.1519A>T (p.Thr507Ser) c.2524A>T (p.Thr842Ser) c.2704A>T (p.Thr902Ser) | |
| 20 | g.51784597T>C | CA9911989 | SALL4 | c.2830A>G (p.Thr944Ala) c.499A>G (p.Thr167Ala) c.1519A>G (p.Thr507Ala) c.2524A>G (p.Thr842Ala) c.2704A>G (p.Thr902Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784597T>G | CA409006237 | SALL4 | c.2830A>C (p.Thr944Pro) c.499A>C (p.Thr167Pro) c.1519A>C (p.Thr507Pro) c.2524A>C (p.Thr842Pro) c.2704A>C (p.Thr902Pro) | |
| 20 | g.51784597T= | CA2369155350 | SALL4 | c.2830A= (p.Thr944=) c.499A= (p.Thr167=) c.1519A= (p.Thr507=) c.2524A= (p.Thr842=) c.2704A= (p.Thr902=) | |
| 20 | g.51784598A>C | CA511025848 | SALL4 | c.2829T>G (p.Gly943=) c.498T>G (p.Gly166=) c.1518T>G (p.Gly506=) c.2523T>G (p.Gly841=) c.2703T>G (p.Gly901=) | |
| 20 | g.51784598A>G | CA511025849 | SALL4 | c.2829T>C (p.Gly943=) c.498T>C (p.Gly166=) c.1518T>C (p.Gly506=) c.2523T>C (p.Gly841=) c.2703T>C (p.Gly901=) | |
| 20 | g.51784598A>T | CA511025850 | SALL4 | c.2829T>A (p.Gly943=) c.498T>A (p.Gly166=) c.1518T>A (p.Gly506=) c.2523T>A (p.Gly841=) c.2703T>A (p.Gly901=) | |
| 20 | g.51784599C>A | CA409006238 | SALL4 | c.2828G>T (p.Gly943Val) c.497G>T (p.Gly166Val) c.1517G>T (p.Gly506Val) c.2522G>T (p.Gly841Val) c.2702G>T (p.Gly901Val) | |
| 20 | g.51784599C>G | CA409006239 | SALL4 | c.2828G>C (p.Gly943Ala) c.497G>C (p.Gly166Ala) c.1517G>C (p.Gly506Ala) c.2522G>C (p.Gly841Ala) c.2702G>C (p.Gly901Ala) | |
| 20 | g.51784599C>T | CA409006240 | SALL4 | c.2828G>A (p.Gly943Asp) c.497G>A (p.Gly166Asp) c.1517G>A (p.Gly506Asp) c.2522G>A (p.Gly841Asp) c.2702G>A (p.Gly901Asp) | |
| 20 | g.51784600C>A | CA409006242 | SALL4 | c.2827G>T (p.Gly943Cys) c.496G>T (p.Gly166Cys) c.1516G>T (p.Gly506Cys) c.2521G>T (p.Gly841Cys) c.2701G>T (p.Gly901Cys) | |
| 20 | g.51784600C= | CA2369155351 | SALL4 | c.2827G= (p.Gly943=) c.496G= (p.Gly166=) c.1516G= (p.Gly506=) c.2521G= (p.Gly841=) c.2701G= (p.Gly901=) | |
| 20 | g.51784600C>G | CA409006243 | SALL4 | c.2827G>C (p.Gly943Arg) c.496G>C (p.Gly166Arg) c.1516G>C (p.Gly506Arg) c.2521G>C (p.Gly841Arg) c.2701G>C (p.Gly901Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784600C>T | CA409006241 | SALL4 | c.2827G>A (p.Gly943Ser) c.496G>A (p.Gly166Ser) c.1516G>A (p.Gly506Ser) c.2521G>A (p.Gly841Ser) c.2701G>A (p.Gly901Ser) | |
| 20 | g.51784601T>A | CA409006245 | SALL4 | c.2826A>T (p.Leu942Phe) c.495A>T (p.Leu165Phe) c.1515A>T (p.Leu505Phe) c.2520A>T (p.Leu840Phe) c.2700A>T (p.Leu900Phe) | |
| 20 | g.51784601T>C | CA511025854 | SALL4 | c.2826A>G (p.Leu942=) c.495A>G (p.Leu165=) c.1515A>G (p.Leu505=) c.2520A>G (p.Leu840=) c.2700A>G (p.Leu900=) | |
| 20 | g.51784601T>G | CA409006244 | SALL4 | c.2826A>C (p.Leu942Phe) c.495A>C (p.Leu165Phe) c.1515A>C (p.Leu505Phe) c.2520A>C (p.Leu840Phe) c.2700A>C (p.Leu900Phe) | |
| 20 | g.51784602A>C | CA409006246 | SALL4 | c.2825T>G (p.Leu942Ter) c.494T>G (p.Leu165Ter) c.1514T>G (p.Leu505Ter) c.2519T>G (p.Leu840Ter) c.2699T>G (p.Leu900Ter) | |
| 20 | g.51784602A>G | CA409006247 | SALL4 | c.2825T>C (p.Leu942Ser) c.494T>C (p.Leu165Ser) c.1514T>C (p.Leu505Ser) c.2519T>C (p.Leu840Ser) c.2699T>C (p.Leu900Ser) | gnomAD v4 |
| 20 | g.51784602A>T | CA409006248 | SALL4 | c.2825T>A (p.Leu942Ter) c.494T>A (p.Leu165Ter) c.1514T>A (p.Leu505Ter) c.2519T>A (p.Leu840Ter) c.2699T>A (p.Leu900Ter) | |
| 20 | g.51784603A>C | CA409006249 | SALL4 | c.2824T>G (p.Leu942Val) c.493T>G (p.Leu165Val) c.1513T>G (p.Leu505Val) c.2518T>G (p.Leu840Val) c.2698T>G (p.Leu900Val) | |
| 20 | g.51784603A>G | CA511025857 | SALL4 | c.2824T>C (p.Leu942=) c.493T>C (p.Leu165=) c.1513T>C (p.Leu505=) c.2518T>C (p.Leu840=) c.2698T>C (p.Leu900=) | gnomAD v4 |
| 20 | g.51784603A>T | CA409006250 | SALL4 | c.2824T>A (p.Leu942Ile) c.493T>A (p.Leu165Ile) c.1513T>A (p.Leu505Ile) c.2518T>A (p.Leu840Ile) c.2698T>A (p.Leu900Ile) | |
| 20 | g.51784604C>A | CA511025860 | SALL4 | c.2823G>T (p.Leu941=) c.492G>T (p.Leu164=) c.1512G>T (p.Leu504=) c.2517G>T (p.Leu839=) c.2697G>T (p.Leu899=) | dbSNP gnomAD v4 |
| 20 | g.51784604C= | CA2369155352 | SALL4 | c.2823G= (p.Leu941=) c.492G= (p.Leu164=) c.1512G= (p.Leu504=) c.2517G= (p.Leu839=) c.2697G= (p.Leu899=) | |
| 20 | g.51784604C>G | CA511025861 | SALL4 | c.2823G>C (p.Leu941=) c.492G>C (p.Leu164=) c.1512G>C (p.Leu504=) c.2517G>C (p.Leu839=) c.2697G>C (p.Leu899=) | |
| 20 | g.51784604C>T | CA9911990 | SALL4 | c.2823G>A (p.Leu941=) c.492G>A (p.Leu164=) c.1512G>A (p.Leu504=) c.2517G>A (p.Leu839=) c.2697G>A (p.Leu899=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784605A= | CA2369155353 | SALL4 | c.2822T= (p.Leu941=) c.491T= (p.Leu164=) c.1511T= (p.Leu504=) c.2516T= (p.Leu839=) c.2696T= (p.Leu899=) | |
| 20 | g.51784605A>C | CA409006251 | SALL4 | c.2822T>G (p.Leu941Arg) c.491T>G (p.Leu164Arg) c.1511T>G (p.Leu504Arg) c.2516T>G (p.Leu839Arg) c.2696T>G (p.Leu899Arg) | |
| 20 | g.51784605A>G | CA315366292 | SALL4 | c.2822T>C (p.Leu941Pro) c.491T>C (p.Leu164Pro) c.1511T>C (p.Leu504Pro) c.2516T>C (p.Leu839Pro) c.2696T>C (p.Leu899Pro) | dbSNP |
| 20 | g.51784605A>T | CA409006252 | SALL4 | c.2822T>A (p.Leu941Gln) c.491T>A (p.Leu164Gln) c.1511T>A (p.Leu504Gln) c.2516T>A (p.Leu839Gln) c.2696T>A (p.Leu899Gln) | |
| 20 | g.51784606G>A | CA511025863 | SALL4 | c.2821C>T (p.Leu941=) c.490C>T (p.Leu164=) c.1510C>T (p.Leu504=) c.2515C>T (p.Leu839=) c.2695C>T (p.Leu899=) | gnomAD v4 |
| 20 | g.51784606G>C | CA409006253 | SALL4 | c.2821C>G (p.Leu941Val) c.490C>G (p.Leu164Val) c.1510C>G (p.Leu504Val) c.2515C>G (p.Leu839Val) c.2695C>G (p.Leu899Val) | dbSNP |
| 20 | g.51784606G= | CA2369155354 | SALL4 | c.2821C= (p.Leu941=) c.490C= (p.Leu164=) c.1510C= (p.Leu504=) c.2515C= (p.Leu839=) c.2695C= (p.Leu899=) | |
| 20 | g.51784606G>T | CA409006254 | SALL4 | c.2821C>A (p.Leu941Met) c.490C>A (p.Leu164Met) c.1510C>A (p.Leu504Met) c.2515C>A (p.Leu839Met) c.2695C>A (p.Leu899Met) | |
| 20 | g.51784607A>C | CA511025866 | SALL4 | c.2820T>G (p.Ala940=) c.489T>G (p.Ala163=) c.1509T>G (p.Ala503=) c.2514T>G (p.Ala838=) c.2694T>G (p.Ala898=) | |
| 20 | g.51784607A>G | CA511025867 | SALL4 | c.2820T>C (p.Ala940=) c.489T>C (p.Ala163=) c.1509T>C (p.Ala503=) c.2514T>C (p.Ala838=) c.2694T>C (p.Ala898=) | |
| 20 | g.51784607A>T | CA511025868 | SALL4 | c.2820T>A (p.Ala940=) c.489T>A (p.Ala163=) c.1509T>A (p.Ala503=) c.2514T>A (p.Ala838=) c.2694T>A (p.Ala898=) | |
| 20 | g.51784608G>A | CA409006257 | SALL4 | c.2819C>T (p.Ala940Val) c.488C>T (p.Ala163Val) c.1508C>T (p.Ala503Val) c.2513C>T (p.Ala838Val) c.2693C>T (p.Ala898Val) | |
| 20 | g.51784608G>C | CA409006255 | SALL4 | c.2819C>G (p.Ala940Gly) c.488C>G (p.Ala163Gly) c.1508C>G (p.Ala503Gly) c.2513C>G (p.Ala838Gly) c.2693C>G (p.Ala898Gly) | |
| 20 | g.51784608G>T | CA409006256 | SALL4 | c.2819C>A (p.Ala940Asp) c.488C>A (p.Ala163Asp) c.1508C>A (p.Ala503Asp) c.2513C>A (p.Ala838Asp) c.2693C>A (p.Ala898Asp) | gnomAD v4 |
| 20 | g.51784609C>A | CA409006258 | SALL4 | c.2818G>T (p.Ala940Ser) c.487G>T (p.Ala163Ser) c.1507G>T (p.Ala503Ser) c.2512G>T (p.Ala838Ser) c.2692G>T (p.Ala898Ser) | |
| 20 | g.51784609C= | CA2369155355 | SALL4 | c.2818G= (p.Ala940=) c.487G= (p.Ala163=) c.1507G= (p.Ala503=) c.2512G= (p.Ala838=) c.2692G= (p.Ala898=) | |
| 20 | g.51784609C>G | CA9911991 | SALL4 | c.2818G>C (p.Ala940Pro) c.487G>C (p.Ala163Pro) c.1507G>C (p.Ala503Pro) c.2512G>C (p.Ala838Pro) c.2692G>C (p.Ala898Pro) | dbSNP ExAC gnomAD v2 |
| 20 | g.51784609C>T | CA409006259 | SALL4 | c.2818G>A (p.Ala940Thr) c.487G>A (p.Ala163Thr) c.1507G>A (p.Ala503Thr) c.2512G>A (p.Ala838Thr) c.2692G>A (p.Ala898Thr) | |
| 20 | g.51784610C>A | CA409006260 | SALL4 | c.2817G>T (p.Met939Ile) c.486G>T (p.Met162Ile) c.1506G>T (p.Met502Ile) c.2511G>T (p.Met837Ile) c.2691G>T (p.Met897Ile) | |
| 20 | g.51784610C>G | CA409006261 | SALL4 | c.2817G>C (p.Met939Ile) c.486G>C (p.Met162Ile) c.1506G>C (p.Met502Ile) c.2511G>C (p.Met837Ile) c.2691G>C (p.Met897Ile) | |
| 20 | g.51784610C>T | CA409006262 | SALL4 | c.2817G>A (p.Met939Ile) c.486G>A (p.Met162Ile) c.1506G>A (p.Met502Ile) c.2511G>A (p.Met837Ile) c.2691G>A (p.Met897Ile) | gnomAD v4 |
| 20 | g.51784611A= | CA2369155356 | SALL4 | c.2816T= (p.Met939=) c.485T= (p.Met162=) c.1505T= (p.Met502=) c.2510T= (p.Met837=) c.2690T= (p.Met897=) | |
| 20 | g.51784611A>C | CA409006263 | SALL4 | c.2816T>G (p.Met939Arg) c.485T>G (p.Met162Arg) c.1505T>G (p.Met502Arg) c.2510T>G (p.Met837Arg) c.2690T>G (p.Met897Arg) | ClinVar dbSNP |
| 20 | g.51784611A>G | CA9911992 | SALL4 | c.2816T>C (p.Met939Thr) c.485T>C (p.Met162Thr) c.1505T>C (p.Met502Thr) c.2510T>C (p.Met837Thr) c.2690T>C (p.Met897Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784611A>T | CA409006264 | SALL4 | c.2816T>A (p.Met939Lys) c.485T>A (p.Met162Lys) c.1505T>A (p.Met502Lys) c.2510T>A (p.Met837Lys) c.2690T>A (p.Met897Lys) | |
| 20 | g.51784612T>A | CA409006265 | SALL4 | c.2815A>T (p.Met939Leu) c.484A>T (p.Met162Leu) c.1504A>T (p.Met502Leu) c.2509A>T (p.Met837Leu) c.2689A>T (p.Met897Leu) | |
| 20 | g.51784612T>C | CA409006266 | SALL4 | c.2815A>G (p.Met939Val) c.484A>G (p.Met162Val) c.1504A>G (p.Met502Val) c.2509A>G (p.Met837Val) c.2689A>G (p.Met897Val) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784612T>G | CA409006267 | SALL4 | c.2815A>C (p.Met939Leu) c.484A>C (p.Met162Leu) c.1504A>C (p.Met502Leu) c.2509A>C (p.Met837Leu) c.2689A>C (p.Met897Leu) | |
| 20 | g.51784612T= | CA2369155357 | SALL4 | c.2815A= (p.Met939=) c.484A= (p.Met162=) c.1504A= (p.Met502=) c.2509A= (p.Met837=) c.2689A= (p.Met897=) | |
| 20 | g.51784613G>A | CA511025870 | SALL4 | c.2814C>T (p.Thr938=) c.483C>T (p.Thr161=) c.1503C>T (p.Thr501=) c.2508C>T (p.Thr836=) c.2688C>T (p.Thr896=) | gnomAD v4 |
| 20 | g.51784613G>C | CA511025871 | SALL4 | c.2814C>G (p.Thr938=) c.483C>G (p.Thr161=) c.1503C>G (p.Thr501=) c.2508C>G (p.Thr836=) c.2688C>G (p.Thr896=) | |
| 20 | g.51784613G>T | CA511025872 | SALL4 | c.2814C>A (p.Thr938=) c.483C>A (p.Thr161=) c.1503C>A (p.Thr501=) c.2508C>A (p.Thr836=) c.2688C>A (p.Thr896=) | |
| 20 | g.51784614G>A | CA409006270 | SALL4 | c.2813C>T (p.Thr938Ile) c.482C>T (p.Thr161Ile) c.1502C>T (p.Thr501Ile) c.2507C>T (p.Thr836Ile) c.2687C>T (p.Thr896Ile) | |
| 20 | g.51784614G>C | CA409006269 | SALL4 | c.2813C>G (p.Thr938Ser) c.482C>G (p.Thr161Ser) c.1502C>G (p.Thr501Ser) c.2507C>G (p.Thr836Ser) c.2687C>G (p.Thr896Ser) | |
| 20 | g.51784614G>T | CA409006268 | SALL4 | c.2813C>A (p.Thr938Asn) c.482C>A (p.Thr161Asn) c.1502C>A (p.Thr501Asn) c.2507C>A (p.Thr836Asn) c.2687C>A (p.Thr896Asn) | |
| 20 | g.51784615T>A | CA409006273 | SALL4 | c.2812A>T (p.Thr938Ser) c.481A>T (p.Thr161Ser) c.1501A>T (p.Thr501Ser) c.2506A>T (p.Thr836Ser) c.2686A>T (p.Thr896Ser) | |
| 20 | g.51784615T>C | CA409006271 | SALL4 | c.2812A>G (p.Thr938Ala) c.481A>G (p.Thr161Ala) c.1501A>G (p.Thr501Ala) c.2506A>G (p.Thr836Ala) c.2686A>G (p.Thr896Ala) | |
| 20 | g.51784615T>G | CA409006272 | SALL4 | c.2812A>C (p.Thr938Pro) c.481A>C (p.Thr161Pro) c.1501A>C (p.Thr501Pro) c.2506A>C (p.Thr836Pro) c.2686A>C (p.Thr896Pro) | |
| 20 | g.51784616G>A | CA511025874 | SALL4 | c.2811C>T (p.Asn937=) c.480C>T (p.Asn160=) c.1500C>T (p.Asn500=) c.2505C>T (p.Asn835=) c.2685C>T (p.Asn895=) | |
| 20 | g.51784616G>C | CA409006274 | SALL4 | c.2811C>G (p.Asn937Lys) c.480C>G (p.Asn160Lys) c.1500C>G (p.Asn500Lys) c.2505C>G (p.Asn835Lys) c.2685C>G (p.Asn895Lys) | |
| 20 | g.51784616G>T | CA409006275 | SALL4 | c.2811C>A (p.Asn937Lys) c.480C>A (p.Asn160Lys) c.1500C>A (p.Asn500Lys) c.2505C>A (p.Asn835Lys) c.2685C>A (p.Asn895Lys) | gnomAD v4 |
| 20 | g.51784617T>A | CA409006276 | SALL4 | c.2810A>T (p.Asn937Ile) c.479A>T (p.Asn160Ile) c.1499A>T (p.Asn500Ile) c.2504A>T (p.Asn835Ile) c.2684A>T (p.Asn895Ile) | |
| 20 | g.51784617T>C | CA9911993 | SALL4 | c.2810A>G (p.Asn937Ser) c.479A>G (p.Asn160Ser) c.1499A>G (p.Asn500Ser) c.2504A>G (p.Asn835Ser) c.2684A>G (p.Asn895Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784617T>G | CA409006277 | SALL4 | c.2810A>C (p.Asn937Thr) c.479A>C (p.Asn160Thr) c.1499A>C (p.Asn500Thr) c.2504A>C (p.Asn835Thr) c.2684A>C (p.Asn895Thr) | |
| 20 | g.51784617T= | CA2369155358 | SALL4 | c.2810A= (p.Asn937=) c.479A= (p.Asn160=) c.1499A= (p.Asn500=) c.2504A= (p.Asn835=) c.2684A= (p.Asn895=) | |
| 20 | g.51784618T>A | CA409006278 | SALL4 | c.2809A>T (p.Asn937Tyr) c.478A>T (p.Asn160Tyr) c.1498A>T (p.Asn500Tyr) c.2503A>T (p.Asn835Tyr) c.2683A>T (p.Asn895Tyr) | |
| 20 | g.51784618T>C | CA9911994 | SALL4 | c.2809A>G (p.Asn937Asp) c.478A>G (p.Asn160Asp) c.1498A>G (p.Asn500Asp) c.2503A>G (p.Asn835Asp) c.2683A>G (p.Asn895Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784618T>G | CA409006279 | SALL4 | c.2809A>C (p.Asn937His) c.478A>C (p.Asn160His) c.1498A>C (p.Asn500His) c.2503A>C (p.Asn835His) c.2683A>C (p.Asn895His) | ClinVar |
| 20 | g.51784618T= | CA2369155359 | SALL4 | c.2809A= (p.Asn937=) c.478A= (p.Asn160=) c.1498A= (p.Asn500=) c.2503A= (p.Asn835=) c.2683A= (p.Asn895=) | |
| 20 | g.51784619C>A | CA409006280 | SALL4 | c.2808G>T (p.Glu936Asp) c.477G>T (p.Glu159Asp) c.1497G>T (p.Glu499Asp) c.2502G>T (p.Glu834Asp) c.2682G>T (p.Glu894Asp) | gnomAD v4 |
| 20 | g.51784619C>G | CA409006281 | SALL4 | c.2808G>C (p.Glu936Asp) c.477G>C (p.Glu159Asp) c.1497G>C (p.Glu499Asp) c.2502G>C (p.Glu834Asp) c.2682G>C (p.Glu894Asp) | COSMIC |
| 20 | g.51784619C>T | CA511025876 | SALL4 | c.2808G>A (p.Glu936=) c.477G>A (p.Glu159=) c.1497G>A (p.Glu499=) c.2502G>A (p.Glu834=) c.2682G>A (p.Glu894=) | |
| 20 | g.51784620T>A | CA409006283 | SALL4 | c.2807A>T (p.Glu936Val) c.476A>T (p.Glu159Val) c.1496A>T (p.Glu499Val) c.2501A>T (p.Glu834Val) c.2681A>T (p.Glu894Val) | |
| 20 | g.51784620T>C | CA409006284 | SALL4 | c.2807A>G (p.Glu936Gly) c.476A>G (p.Glu159Gly) c.1496A>G (p.Glu499Gly) c.2501A>G (p.Glu834Gly) c.2681A>G (p.Glu894Gly) | |
| 20 | g.51784620T>G | CA409006282 | SALL4 | c.2807A>C (p.Glu936Ala) c.476A>C (p.Glu159Ala) c.1496A>C (p.Glu499Ala) c.2501A>C (p.Glu834Ala) c.2681A>C (p.Glu894Ala) | |
| 20 | g.51784621C>A | CA409006285 | SALL4 | c.2806G>T (p.Glu936Ter) c.475G>T (p.Glu159Ter) c.1495G>T (p.Glu499Ter) c.2500G>T (p.Glu834Ter) c.2680G>T (p.Glu894Ter) | |
| 20 | g.51784621C= | CA2369155360 | SALL4 | c.2806G= (p.Glu936=) c.475G= (p.Glu159=) c.1495G= (p.Glu499=) c.2500G= (p.Glu834=) c.2680G= (p.Glu894=) | |
| 20 | g.51784621C>G | CA409006286 | SALL4 | c.2806G>C (p.Glu936Gln) c.475G>C (p.Glu159Gln) c.1495G>C (p.Glu499Gln) c.2500G>C (p.Glu834Gln) c.2680G>C (p.Glu894Gln) | gnomAD v4 |
| 20 | g.51784621C>T | CA9911995 | SALL4 | c.2806G>A (p.Glu936Lys) c.475G>A (p.Glu159Lys) c.1495G>A (p.Glu499Lys) c.2500G>A (p.Glu834Lys) c.2680G>A (p.Glu894Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784622G>A | CA9911996 | SALL4 | c.2805C>T (p.Ile935=) c.474C>T (p.Ile158=) c.1494C>T (p.Ile498=) c.2499C>T (p.Ile833=) c.2679C>T (p.Ile893=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784622G>C | CA409006287 | SALL4 | c.2805C>G (p.Ile935Met) c.474C>G (p.Ile158Met) c.1494C>G (p.Ile498Met) c.2499C>G (p.Ile833Met) c.2679C>G (p.Ile893Met) | gnomAD v4 |
| 20 | g.51784622G= | CA2369155361 | SALL4 | c.2805C= (p.Ile935=) c.474C= (p.Ile158=) c.1494C= (p.Ile498=) c.2499C= (p.Ile833=) c.2679C= (p.Ile893=) | |
| 20 | g.51784622G>T | CA511025880 | SALL4 | c.2805C>A (p.Ile935=) c.474C>A (p.Ile158=) c.1494C>A (p.Ile498=) c.2499C>A (p.Ile833=) c.2679C>A (p.Ile893=) | |
| 20 | g.51784623A= | CA2369155362 | SALL4 | c.2804T= (p.Ile935=) c.473T= (p.Ile158=) c.1493T= (p.Ile498=) c.2498T= (p.Ile833=) c.2678T= (p.Ile893=) | |
| 20 | g.51784623A>C | CA409006290 | SALL4 | c.2804T>G (p.Ile935Ser) c.473T>G (p.Ile158Ser) c.1493T>G (p.Ile498Ser) c.2498T>G (p.Ile833Ser) c.2678T>G (p.Ile893Ser) | |
| 20 | g.51784623A>G | CA409006288 | SALL4 | c.2804T>C (p.Ile935Thr) c.473T>C (p.Ile158Thr) c.1493T>C (p.Ile498Thr) c.2498T>C (p.Ile833Thr) c.2678T>C (p.Ile893Thr) | |
| 20 | g.51784623A>T | CA409006289 | SALL4 | c.2804T>A (p.Ile935Asn) c.473T>A (p.Ile158Asn) c.1493T>A (p.Ile498Asn) c.2498T>A (p.Ile833Asn) c.2678T>A (p.Ile893Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784624T>A | CA409006291 | SALL4 | c.2803A>T (p.Ile935Phe) c.472A>T (p.Ile158Phe) c.1492A>T (p.Ile498Phe) c.2497A>T (p.Ile833Phe) c.2677A>T (p.Ile893Phe) | gnomAD v4 |
| 20 | g.51784624T>C | CA9911997 | SALL4 | c.2803A>G (p.Ile935Val) c.472A>G (p.Ile158Val) c.1492A>G (p.Ile498Val) c.2497A>G (p.Ile833Val) c.2677A>G (p.Ile893Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784624T>G | CA409006292 | SALL4 | c.2803A>C (p.Ile935Leu) c.472A>C (p.Ile158Leu) c.1492A>C (p.Ile498Leu) c.2497A>C (p.Ile833Leu) c.2677A>C (p.Ile893Leu) | |
| 20 | g.51784624T= | CA2369155363 | SALL4 | c.2803A= (p.Ile935=) c.472A= (p.Ile158=) c.1492A= (p.Ile498=) c.2497A= (p.Ile833=) c.2677A= (p.Ile893=) |