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.51784361A>C | CA511025650 | SALL4 | c.3066T>G (p.Gly1022=) c.735T>G (p.Gly245=) c.1755T>G (p.Gly585=) c.2760T>G (p.Gly920=) c.2940T>G (p.Gly980=) | |
20 | g.51784361A>G | CA511025651 | SALL4 | c.3066T>C (p.Gly1022=) c.735T>C (p.Gly245=) c.1755T>C (p.Gly585=) c.2760T>C (p.Gly920=) c.2940T>C (p.Gly980=) | |
20 | g.51784361A>T | CA511025649 | SALL4 | c.3066T>A (p.Gly1022=) c.735T>A (p.Gly245=) c.1755T>A (p.Gly585=) c.2760T>A (p.Gly920=) c.2940T>A (p.Gly980=) | gnomAD v4 |
20 | g.51784362C>A | CA409005750 | SALL4 | c.3065G>T (p.Gly1022Val) c.734G>T (p.Gly245Val) c.1754G>T (p.Gly585Val) c.2759G>T (p.Gly920Val) c.2939G>T (p.Gly980Val) | gnomAD v4 |
20 | g.51784362C= | CA2369155238 | SALL4 | c.3065G= (p.Gly1022=) c.734G= (p.Gly245=) c.1754G= (p.Gly585=) c.2759G= (p.Gly920=) c.2939G= (p.Gly980=) | |
20 | g.51784362C>G | CA315365790 | SALL4 | c.3065G>C (p.Gly1022Ala) c.734G>C (p.Gly245Ala) c.1754G>C (p.Gly585Ala) c.2759G>C (p.Gly920Ala) c.2939G>C (p.Gly980Ala) | dbSNP gnomAD v4 |
20 | g.51784362C>T | CA409005751 | SALL4 | c.3065G>A (p.Gly1022Asp) c.734G>A (p.Gly245Asp) c.1754G>A (p.Gly585Asp) c.2759G>A (p.Gly920Asp) c.2939G>A (p.Gly980Asp) | dbSNP |
20 | g.51784363C>A | CA409005752 | SALL4 | c.3064G>T (p.Gly1022Cys) c.733G>T (p.Gly245Cys) c.1753G>T (p.Gly585Cys) c.2758G>T (p.Gly920Cys) c.2938G>T (p.Gly980Cys) | |
20 | g.51784363C= | CA2369155239 | SALL4 | c.3064G= (p.Gly1022=) c.733G= (p.Gly245=) c.1753G= (p.Gly585=) c.2758G= (p.Gly920=) c.2938G= (p.Gly980=) | |
20 | g.51784363C>G | CA9911931 | SALL4 | c.3064G>C (p.Gly1022Arg) c.733G>C (p.Gly245Arg) c.1753G>C (p.Gly585Arg) c.2758G>C (p.Gly920Arg) c.2938G>C (p.Gly980Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.51784363C>T | CA409005753 | SALL4 | c.3064G>A (p.Gly1022Ser) c.733G>A (p.Gly245Ser) c.1753G>A (p.Gly585Ser) c.2758G>A (p.Gly920Ser) c.2938G>A (p.Gly980Ser) | |
20 | g.51784364C>A | CA511025655 | SALL4 | c.3063G>T (p.Ser1021=) c.732G>T (p.Ser244=) c.1752G>T (p.Ser584=) c.2757G>T (p.Ser919=) c.2937G>T (p.Ser979=) | |
20 | g.51784364C= | CA2369155240 | SALL4 | c.3063G= (p.Ser1021=) c.732G= (p.Ser244=) c.1752G= (p.Ser584=) c.2757G= (p.Ser919=) c.2937G= (p.Ser979=) | |
20 | g.51784364C>G | CA511025656 | SALL4 | c.3063G>C (p.Ser1021=) c.732G>C (p.Ser244=) c.1752G>C (p.Ser584=) c.2757G>C (p.Ser919=) c.2937G>C (p.Ser979=) | |
20 | g.51784364C>T | CA9911932 | SALL4 | c.3063G>A (p.Ser1021=) c.732G>A (p.Ser244=) c.1752G>A (p.Ser584=) c.2757G>A (p.Ser919=) c.2937G>A (p.Ser979=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.51784365G>A | CA9911933 | SALL4 | c.3062C>T (p.Ser1021Leu) c.731C>T (p.Ser244Leu) c.1751C>T (p.Ser584Leu) c.2756C>T (p.Ser919Leu) c.2936C>T (p.Ser979Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.51784365G>C | CA409005754 | SALL4 | c.3062C>G (p.Ser1021Trp) c.731C>G (p.Ser244Trp) c.1751C>G (p.Ser584Trp) c.2756C>G (p.Ser919Trp) c.2936C>G (p.Ser979Trp) | |
20 | g.51784365G= | CA2369155241 | SALL4 | c.3062C= (p.Ser1021=) c.731C= (p.Ser244=) c.1751C= (p.Ser584=) c.2756C= (p.Ser919=) c.2936C= (p.Ser979=) | |
20 | g.51784365G>T | CA409005755 | SALL4 | c.3062C>A (p.Ser1021Ter) c.731C>A (p.Ser244Ter) c.1751C>A (p.Ser584Ter) c.2756C>A (p.Ser919Ter) c.2936C>A (p.Ser979Ter) | |
20 | g.51784366A>C | CA409005756 | SALL4 | c.3061T>G (p.Ser1021Ala) c.730T>G (p.Ser244Ala) c.1750T>G (p.Ser584Ala) c.2755T>G (p.Ser919Ala) c.2935T>G (p.Ser979Ala) | |
20 | g.51784366A>G | CA409005757 | SALL4 | c.3061T>C (p.Ser1021Pro) c.730T>C (p.Ser244Pro) c.1750T>C (p.Ser584Pro) c.2755T>C (p.Ser919Pro) c.2935T>C (p.Ser979Pro) | |
20 | g.51784366A>T | CA409005758 | SALL4 | c.3061T>A (p.Ser1021Thr) c.730T>A (p.Ser244Thr) c.1750T>A (p.Ser584Thr) c.2755T>A (p.Ser919Thr) c.2935T>A (p.Ser979Thr) | |
20 | g.51784367del | CA2695229962 | SALL4 | c.3060del (p.Gln1020HisfsTer?) c.729del (p.Gln243HisfsTer?) c.1749del (p.Gln583HisfsTer?) c.2754del (p.Gln918HisfsTer?) c.2934del (p.Gln978HisfsTer?) | |
20 | g.51784367C>A | CA409005759 | SALL4 | c.3060G>T (p.Gln1020His) c.729G>T (p.Gln243His) c.1749G>T (p.Gln583His) c.2754G>T (p.Gln918His) c.2934G>T (p.Gln978His) | gnomAD v4 |
20 | g.51784367C>G | CA409005760 | SALL4 | c.3060G>C (p.Gln1020His) c.729G>C (p.Gln243His) c.1749G>C (p.Gln583His) c.2754G>C (p.Gln918His) c.2934G>C (p.Gln978His) | |
20 | g.51784367C>T | CA511025658 | SALL4 | c.3060G>A (p.Gln1020=) c.729G>A (p.Gln243=) c.1749G>A (p.Gln583=) c.2754G>A (p.Gln918=) c.2934G>A (p.Gln978=) | |
20 | g.51784368T>A | CA409005761 | SALL4 | c.3059A>T (p.Gln1020Leu) c.728A>T (p.Gln243Leu) c.1748A>T (p.Gln583Leu) c.2753A>T (p.Gln918Leu) c.2933A>T (p.Gln978Leu) | |
20 | g.51784368T>C | CA409005762 | SALL4 | c.3059A>G (p.Gln1020Arg) c.728A>G (p.Gln243Arg) c.1748A>G (p.Gln583Arg) c.2753A>G (p.Gln918Arg) c.2933A>G (p.Gln978Arg) | gnomAD v4 |
20 | g.51784368T>G | CA409005763 | SALL4 | c.3059A>C (p.Gln1020Pro) c.728A>C (p.Gln243Pro) c.1748A>C (p.Gln583Pro) c.2753A>C (p.Gln918Pro) c.2933A>C (p.Gln978Pro) | |
20 | g.51784369G>A | CA409005764 | SALL4 | c.3058C>T (p.Gln1020Ter) c.727C>T (p.Gln243Ter) c.1747C>T (p.Gln583Ter) c.2752C>T (p.Gln918Ter) c.2932C>T (p.Gln978Ter) | |
20 | g.51784369G>C | CA409005766 | SALL4 | c.3058C>G (p.Gln1020Glu) c.727C>G (p.Gln243Glu) c.1747C>G (p.Gln583Glu) c.2752C>G (p.Gln918Glu) c.2932C>G (p.Gln978Glu) | |
20 | g.51784369G>T | CA409005765 | SALL4 | c.3058C>A (p.Gln1020Lys) c.727C>A (p.Gln243Lys) c.1747C>A (p.Gln583Lys) c.2752C>A (p.Gln918Lys) c.2932C>A (p.Gln978Lys) | |
20 | g.51784371del | CA2580618158 | SALL4 | c.3058del (p.Gln1020SerfsTer?) c.727del (p.Gln243SerfsTer?) c.1747del (p.Gln583SerfsTer?) c.2752del (p.Gln918SerfsTer?) c.2932del (p.Gln978SerfsTer?) | ClinVar |
20 | g.51784370G>A | CA511025660 | SALL4 | c.3057C>T (p.Ser1019=) c.726C>T (p.Ser242=) c.1746C>T (p.Ser582=) c.2751C>T (p.Ser917=) c.2931C>T (p.Ser977=) | |
20 | g.51784370G>C | CA9911934 | SALL4 | c.3057C>G (p.Ser1019=) c.726C>G (p.Ser242=) c.1746C>G (p.Ser582=) c.2751C>G (p.Ser917=) c.2931C>G (p.Ser977=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.51784370G= | CA2369155242 | SALL4 | c.3057C= (p.Ser1019=) c.726C= (p.Ser242=) c.1746C= (p.Ser582=) c.2751C= (p.Ser917=) c.2931C= (p.Ser977=) | |
20 | g.51784370G>T | CA511025661 | SALL4 | c.3057C>A (p.Ser1019=) c.726C>A (p.Ser242=) c.1746C>A (p.Ser582=) c.2751C>A (p.Ser917=) c.2931C>A (p.Ser977=) | |
20 | g.51784371G>A | CA409005767 | SALL4 | c.3056C>T (p.Ser1019Phe) c.725C>T (p.Ser242Phe) c.1745C>T (p.Ser582Phe) c.2750C>T (p.Ser917Phe) c.2930C>T (p.Ser977Phe) | |
20 | g.51784371G>C | CA409005768 | SALL4 | c.3056C>G (p.Ser1019Cys) c.725C>G (p.Ser242Cys) c.1745C>G (p.Ser582Cys) c.2750C>G (p.Ser917Cys) c.2930C>G (p.Ser977Cys) | COSMIC |
20 | g.51784371G>T | CA409005769 | SALL4 | c.3056C>A (p.Ser1019Tyr) c.725C>A (p.Ser242Tyr) c.1745C>A (p.Ser582Tyr) c.2750C>A (p.Ser917Tyr) c.2930C>A (p.Ser977Tyr) | |
20 | g.51784372A= | CA2369155243 | SALL4 | c.3055T= (p.Ser1019=) c.724T= (p.Ser242=) c.1744T= (p.Ser582=) c.2749T= (p.Ser917=) c.2929T= (p.Ser977=) | |
20 | g.51784372A>C | CA409005770 | SALL4 | c.3055T>G (p.Ser1019Ala) c.724T>G (p.Ser242Ala) c.1744T>G (p.Ser582Ala) c.2749T>G (p.Ser917Ala) c.2929T>G (p.Ser977Ala) | |
20 | g.51784372A>G | CA409005771 | SALL4 | c.3055T>C (p.Ser1019Pro) c.724T>C (p.Ser242Pro) c.1744T>C (p.Ser582Pro) c.2749T>C (p.Ser917Pro) c.2929T>C (p.Ser977Pro) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.51784372A>T | CA409005772 | SALL4 | c.3055T>A (p.Ser1019Thr) c.724T>A (p.Ser242Thr) c.1744T>A (p.Ser582Thr) c.2749T>A (p.Ser917Thr) c.2929T>A (p.Ser977Thr) | |
20 | g.51784373G>A | CA511025667 | SALL4 | c.3054C>T (p.Gly1018=) c.723C>T (p.Gly241=) c.1743C>T (p.Gly581=) c.2748C>T (p.Gly916=) c.2928C>T (p.Gly976=) | COSMIC |
20 | g.51784373G>C | CA511025666 | SALL4 | c.3054C>G (p.Gly1018=) c.723C>G (p.Gly241=) c.1743C>G (p.Gly581=) c.2748C>G (p.Gly916=) c.2928C>G (p.Gly976=) | |
20 | g.51784373G>T | CA511025663 | SALL4 | c.3054C>A (p.Gly1018=) c.723C>A (p.Gly241=) c.1743C>A (p.Gly581=) c.2748C>A (p.Gly916=) c.2928C>A (p.Gly976=) | |
20 | g.51784374C>A | CA409005773 | SALL4 | c.3053G>T (p.Gly1018Val) c.722G>T (p.Gly241Val) c.1742G>T (p.Gly581Val) c.2747G>T (p.Gly916Val) c.2927G>T (p.Gly976Val) | |
20 | g.51784374C= | CA2369155244 | SALL4 | c.3053G= (p.Gly1018=) c.722G= (p.Gly241=) c.1742G= (p.Gly581=) c.2747G= (p.Gly916=) c.2927G= (p.Gly976=) | |
20 | g.51784374C>G | CA409005774 | SALL4 | c.3053G>C (p.Gly1018Ala) c.722G>C (p.Gly241Ala) c.1742G>C (p.Gly581Ala) c.2747G>C (p.Gly916Ala) c.2927G>C (p.Gly976Ala) | |
20 | g.51784374C>T | CA409005775 | SALL4 | c.3053G>A (p.Gly1018Asp) c.722G>A (p.Gly241Asp) c.1742G>A (p.Gly581Asp) c.2747G>A (p.Gly916Asp) c.2927G>A (p.Gly976Asp) | dbSNP gnomAD v4 |
20 | g.51784375C>A | CA409005776 | SALL4 | c.3052G>T (p.Gly1018Cys) c.721G>T (p.Gly241Cys) c.1741G>T (p.Gly581Cys) c.2746G>T (p.Gly916Cys) c.2926G>T (p.Gly976Cys) | COSMIC |
20 | g.51784375C>G | CA409005777 | SALL4 | c.3052G>C (p.Gly1018Arg) c.721G>C (p.Gly241Arg) c.1741G>C (p.Gly581Arg) c.2746G>C (p.Gly916Arg) c.2926G>C (p.Gly976Arg) | |
20 | g.51784375C>T | CA409005778 | SALL4 | c.3052G>A (p.Gly1018Ser) c.721G>A (p.Gly241Ser) c.1741G>A (p.Gly581Ser) c.2746G>A (p.Gly916Ser) c.2926G>A (p.Gly976Ser) | gnomAD v4 |
20 | g.51784376A>C | CA409005780 | SALL4 | c.3051T>G (p.Asp1017Glu) c.720T>G (p.Asp240Glu) c.1740T>G (p.Asp580Glu) c.2745T>G (p.Asp915Glu) c.2925T>G (p.Asp975Glu) | |
20 | g.51784376A>G | CA511025668 | SALL4 | c.3051T>C (p.Asp1017=) c.720T>C (p.Asp240=) c.1740T>C (p.Asp580=) c.2745T>C (p.Asp915=) c.2925T>C (p.Asp975=) | COSMIC |
20 | g.51784376A>T | CA409005779 | SALL4 | c.3051T>A (p.Asp1017Glu) c.720T>A (p.Asp240Glu) c.1740T>A (p.Asp580Glu) c.2745T>A (p.Asp915Glu) c.2925T>A (p.Asp975Glu) | |
20 | g.51784377T>A | CA9911935 | SALL4 | c.3050A>T (p.Asp1017Val) c.719A>T (p.Asp240Val) c.1739A>T (p.Asp580Val) c.2744A>T (p.Asp915Val) c.2924A>T (p.Asp975Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.51784377T>C | CA409005781 | SALL4 | c.3050A>G (p.Asp1017Gly) c.719A>G (p.Asp240Gly) c.1739A>G (p.Asp580Gly) c.2744A>G (p.Asp915Gly) c.2924A>G (p.Asp975Gly) | |
20 | g.51784377T>G | CA409005782 | SALL4 | c.3050A>C (p.Asp1017Ala) c.719A>C (p.Asp240Ala) c.1739A>C (p.Asp580Ala) c.2744A>C (p.Asp915Ala) c.2924A>C (p.Asp975Ala) | |
20 | g.51784377T= | CA2369155245 | SALL4 | c.3050A= (p.Asp1017=) c.719A= (p.Asp240=) c.1739A= (p.Asp580=) c.2744A= (p.Asp915=) c.2924A= (p.Asp975=) | |
20 | g.51784378C>A | CA409005783 | SALL4 | c.3049G>T (p.Asp1017Tyr) c.718G>T (p.Asp240Tyr) c.1738G>T (p.Asp580Tyr) c.2743G>T (p.Asp915Tyr) c.2923G>T (p.Asp975Tyr) | |
20 | g.51784378C>G | CA409005784 | SALL4 | c.3049G>C (p.Asp1017His) c.718G>C (p.Asp240His) c.1738G>C (p.Asp580His) c.2743G>C (p.Asp915His) c.2923G>C (p.Asp975His) | |
20 | g.51784378C>T | CA409005785 | SALL4 | c.3049G>A (p.Asp1017Asn) c.718G>A (p.Asp240Asn) c.1738G>A (p.Asp580Asn) c.2743G>A (p.Asp915Asn) c.2923G>A (p.Asp975Asn) | |
20 | g.51784379C>A | CA409005786 | SALL4 | c.3048G>T (p.Met1016Ile) c.717G>T (p.Met239Ile) c.1737G>T (p.Met579Ile) c.2742G>T (p.Met914Ile) c.2922G>T (p.Met974Ile) | |
20 | g.51784379C>G | CA409005787 | SALL4 | c.3048G>C (p.Met1016Ile) c.717G>C (p.Met239Ile) c.1737G>C (p.Met579Ile) c.2742G>C (p.Met914Ile) c.2922G>C (p.Met974Ile) | |
20 | g.51784379C>T | CA409005788 | SALL4 | c.3048G>A (p.Met1016Ile) c.717G>A (p.Met239Ile) c.1737G>A (p.Met579Ile) c.2742G>A (p.Met914Ile) c.2922G>A (p.Met974Ile) | |
20 | g.51784380A= | CA2369155246 | SALL4 | c.3047T= (p.Met1016=) c.716T= (p.Met239=) c.1736T= (p.Met579=) c.2741T= (p.Met914=) c.2921T= (p.Met974=) | |
20 | g.51784380A>C | CA409005789 | SALL4 | c.3047T>G (p.Met1016Arg) c.716T>G (p.Met239Arg) c.1736T>G (p.Met579Arg) c.2741T>G (p.Met914Arg) c.2921T>G (p.Met974Arg) | |
20 | g.51784380A>G | CA409005790 | SALL4 | c.3047T>C (p.Met1016Thr) c.716T>C (p.Met239Thr) c.1736T>C (p.Met579Thr) c.2741T>C (p.Met914Thr) c.2921T>C (p.Met974Thr) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.51784380A>T | CA409005791 | SALL4 | c.3047T>A (p.Met1016Lys) c.716T>A (p.Met239Lys) c.1736T>A (p.Met579Lys) c.2741T>A (p.Met914Lys) c.2921T>A (p.Met974Lys) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.51784381T>A | CA409005794 | SALL4 | c.3046A>T (p.Met1016Leu) c.715A>T (p.Met239Leu) c.1735A>T (p.Met579Leu) c.2740A>T (p.Met914Leu) c.2920A>T (p.Met974Leu) | |
20 | g.51784381T>C | CA409005793 | SALL4 | c.3046A>G (p.Met1016Val) c.715A>G (p.Met239Val) c.1735A>G (p.Met579Val) c.2740A>G (p.Met914Val) c.2920A>G (p.Met974Val) | |
20 | g.51784381T>G | CA409005792 | SALL4 | c.3046A>C (p.Met1016Leu) c.715A>C (p.Met239Leu) c.1735A>C (p.Met579Leu) c.2740A>C (p.Met914Leu) c.2920A>C (p.Met974Leu) | |
20 | g.51784382C>A | CA409005795 | SALL4 | c.3045G>T (p.Lys1015Asn) c.714G>T (p.Lys238Asn) c.1734G>T (p.Lys578Asn) c.2739G>T (p.Lys913Asn) c.2919G>T (p.Lys973Asn) | |
20 | g.51784382C= | CA2369155247 | SALL4 | c.3045G= (p.Lys1015=) c.714G= (p.Lys238=) c.1734G= (p.Lys578=) c.2739G= (p.Lys913=) c.2919G= (p.Lys973=) | |
20 | g.51784382C>G | CA409005796 | SALL4 | c.3045G>C (p.Lys1015Asn) c.714G>C (p.Lys238Asn) c.1734G>C (p.Lys578Asn) c.2739G>C (p.Lys913Asn) c.2919G>C (p.Lys973Asn) | |
20 | g.51784382C>T | CA9911936 | SALL4 | c.3045G>A (p.Lys1015=) c.714G>A (p.Lys238=) c.1734G>A (p.Lys578=) c.2739G>A (p.Lys913=) c.2919G>A (p.Lys973=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.51784383T>A | CA409005797 | SALL4 | c.3044A>T (p.Lys1015Met) c.713A>T (p.Lys238Met) c.1733A>T (p.Lys578Met) c.2738A>T (p.Lys913Met) c.2918A>T (p.Lys973Met) | |
20 | g.51784383T>C | CA409005798 | SALL4 | c.3044A>G (p.Lys1015Arg) c.713A>G (p.Lys238Arg) c.1733A>G (p.Lys578Arg) c.2738A>G (p.Lys913Arg) c.2918A>G (p.Lys973Arg) | gnomAD v4 |
20 | g.51784383T>G | CA409005799 | SALL4 | c.3044A>C (p.Lys1015Thr) c.713A>C (p.Lys238Thr) c.1733A>C (p.Lys578Thr) c.2738A>C (p.Lys913Thr) c.2918A>C (p.Lys973Thr) | |
20 | g.51784384T>A | CA409005800 | SALL4 | c.3043A>T (p.Lys1015Ter) c.712A>T (p.Lys238Ter) c.1732A>T (p.Lys578Ter) c.2737A>T (p.Lys913Ter) c.2917A>T (p.Lys973Ter) | |
20 | g.51784384T>C | CA9911938 | SALL4 | c.3043A>G (p.Lys1015Glu) c.712A>G (p.Lys238Glu) c.1732A>G (p.Lys578Glu) c.2737A>G (p.Lys913Glu) c.2917A>G (p.Lys973Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.51784384T>G | CA9911937 | SALL4 | c.3043A>C (p.Lys1015Gln) c.712A>C (p.Lys238Gln) c.1732A>C (p.Lys578Gln) c.2737A>C (p.Lys913Gln) c.2917A>C (p.Lys973Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.51784384T= | CA2369155248 | SALL4 | c.3043A= (p.Lys1015=) c.712A= (p.Lys238=) c.1732A= (p.Lys578=) c.2737A= (p.Lys913=) c.2917A= (p.Lys973=) | |
20 | g.51784385G>A | CA511025679 | SALL4 | c.3042C>T (p.Ser1014=) c.711C>T (p.Ser237=) c.1731C>T (p.Ser577=) c.2736C>T (p.Ser912=) c.2916C>T (p.Ser972=) | gnomAD v4 |
20 | g.51784385G>C | CA511025680 | SALL4 | c.3042C>G (p.Ser1014=) c.711C>G (p.Ser237=) c.1731C>G (p.Ser577=) c.2736C>G (p.Ser912=) c.2916C>G (p.Ser972=) | |
20 | g.51784385G>T | CA511025681 | SALL4 | c.3042C>A (p.Ser1014=) c.711C>A (p.Ser237=) c.1731C>A (p.Ser577=) c.2736C>A (p.Ser912=) c.2916C>A (p.Ser972=) | |
20 | g.51784386G>A | CA409005803 | SALL4 | c.3041C>T (p.Ser1014Phe) c.710C>T (p.Ser237Phe) c.1730C>T (p.Ser577Phe) c.2735C>T (p.Ser912Phe) c.2915C>T (p.Ser972Phe) | dbSNP gnomAD v4 |
20 | g.51784386G>C | CA409005802 | SALL4 | c.3041C>G (p.Ser1014Cys) c.710C>G (p.Ser237Cys) c.1730C>G (p.Ser577Cys) c.2735C>G (p.Ser912Cys) c.2915C>G (p.Ser972Cys) | |
20 | g.51784386G= | CA2369155249 | SALL4 | c.3041C= (p.Ser1014=) c.710C= (p.Ser237=) c.1730C= (p.Ser577=) c.2735C= (p.Ser912=) c.2915C= (p.Ser972=) | |
20 | g.51784386G>T | CA409005801 | SALL4 | c.3041C>A (p.Ser1014Tyr) c.710C>A (p.Ser237Tyr) c.1730C>A (p.Ser577Tyr) c.2735C>A (p.Ser912Tyr) c.2915C>A (p.Ser972Tyr) | |
20 | g.51784387A= | CA2369155250 | SALL4 | c.3040T= (p.Ser1014=) c.709T= (p.Ser237=) c.1729T= (p.Ser577=) c.2734T= (p.Ser912=) c.2914T= (p.Ser972=) | |
20 | g.51784387A>C | CA409005804 | SALL4 | c.3040T>G (p.Ser1014Ala) c.709T>G (p.Ser237Ala) c.1729T>G (p.Ser577Ala) c.2734T>G (p.Ser912Ala) c.2914T>G (p.Ser972Ala) | dbSNP gnomAD v4 |
20 | g.51784387A>G | CA409005805 | SALL4 | c.3040T>C (p.Ser1014Pro) c.709T>C (p.Ser237Pro) c.1729T>C (p.Ser577Pro) c.2734T>C (p.Ser912Pro) c.2914T>C (p.Ser972Pro) | |
20 | g.51784387A>T | CA409005806 | SALL4 | c.3040T>A (p.Ser1014Thr) c.709T>A (p.Ser237Thr) c.1729T>A (p.Ser577Thr) c.2734T>A (p.Ser912Thr) c.2914T>A (p.Ser972Thr) | |
20 | g.51784388G>A | CA511025683 | SALL4 | c.3039C>T (p.Val1013=) c.708C>T (p.Val236=) c.1728C>T (p.Val576=) c.2733C>T (p.Val911=) c.2913C>T (p.Val971=) | dbSNP gnomAD v2 |
20 | g.51784388G>C | CA315365859 | SALL4 | c.3039C>G (p.Val1013=) c.708C>G (p.Val236=) c.1728C>G (p.Val576=) c.2733C>G (p.Val911=) c.2913C>G (p.Val971=) | dbSNP gnomAD v4 |
20 | g.51784388G= | CA2369155251 | SALL4 | c.3039C= (p.Val1013=) c.708C= (p.Val236=) c.1728C= (p.Val576=) c.2733C= (p.Val911=) c.2913C= (p.Val971=) | |
20 | g.51784388G>T | CA511025684 | SALL4 | c.3039C>A (p.Val1013=) c.708C>A (p.Val236=) c.1728C>A (p.Val576=) c.2733C>A (p.Val911=) c.2913C>A (p.Val971=) | |
20 | g.51784389A>C | CA409005807 | SALL4 | c.3038T>G (p.Val1013Gly) c.707T>G (p.Val236Gly) c.1727T>G (p.Val576Gly) c.2732T>G (p.Val911Gly) c.2912T>G (p.Val971Gly) | |
20 | g.51784389A>G | CA409005808 | SALL4 | c.3038T>C (p.Val1013Ala) c.707T>C (p.Val236Ala) c.1727T>C (p.Val576Ala) c.2732T>C (p.Val911Ala) c.2912T>C (p.Val971Ala) | |
20 | g.51784389A>T | CA409005809 | SALL4 | c.3038T>A (p.Val1013Asp) c.707T>A (p.Val236Asp) c.1727T>A (p.Val576Asp) c.2732T>A (p.Val911Asp) c.2912T>A (p.Val971Asp) | |
20 | g.51784390C>A | CA409005810 | SALL4 | c.3037G>T (p.Val1013Phe) c.706G>T (p.Val236Phe) c.1726G>T (p.Val576Phe) c.2731G>T (p.Val911Phe) c.2911G>T (p.Val971Phe) | |
20 | g.51784390C= | CA2369155252 | SALL4 | c.3037G= (p.Val1013=) c.706G= (p.Val236=) c.1726G= (p.Val576=) c.2731G= (p.Val911=) c.2911G= (p.Val971=) | |
20 | g.51784390C>G | CA409005811 | SALL4 | c.3037G>C (p.Val1013Leu) c.706G>C (p.Val236Leu) c.1726G>C (p.Val576Leu) c.2731G>C (p.Val911Leu) c.2911G>C (p.Val971Leu) | |
20 | g.51784390C>T | CA9911939 | SALL4 | c.3037G>A (p.Val1013Ile) c.706G>A (p.Val236Ile) c.1726G>A (p.Val576Ile) c.2731G>A (p.Val911Ile) c.2911G>A (p.Val971Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.51784391A>C | CA511025688 | SALL4 | c.3036T>G (p.Thr1012=) c.705T>G (p.Thr235=) c.1725T>G (p.Thr575=) c.2730T>G (p.Thr910=) c.2910T>G (p.Thr970=) | |
20 | g.51784391A>G | CA511025689 | SALL4 | c.3036T>C (p.Thr1012=) c.705T>C (p.Thr235=) c.1725T>C (p.Thr575=) c.2730T>C (p.Thr910=) c.2910T>C (p.Thr970=) | |
20 | g.51784391A>T | CA511025690 | SALL4 | c.3036T>A (p.Thr1012=) c.705T>A (p.Thr235=) c.1725T>A (p.Thr575=) c.2730T>A (p.Thr910=) c.2910T>A (p.Thr970=) | |
20 | g.51784392G>A | CA409005812 | SALL4 | c.3035C>T (p.Thr1012Ile) c.704C>T (p.Thr235Ile) c.1724C>T (p.Thr575Ile) c.2729C>T (p.Thr910Ile) c.2909C>T (p.Thr970Ile) | gnomAD v4 |
20 | g.51784392G>C | CA409005813 | SALL4 | c.3035C>G (p.Thr1012Ser) c.704C>G (p.Thr235Ser) c.1724C>G (p.Thr575Ser) c.2729C>G (p.Thr910Ser) c.2909C>G (p.Thr970Ser) | |
20 | g.51784392G>T | CA409005814 | SALL4 | c.3035C>A (p.Thr1012Asn) c.704C>A (p.Thr235Asn) c.1724C>A (p.Thr575Asn) c.2729C>A (p.Thr910Asn) c.2909C>A (p.Thr970Asn) | |
20 | g.51784393T>A | CA409005815 | SALL4 | c.3034A>T (p.Thr1012Ser) c.703A>T (p.Thr235Ser) c.1723A>T (p.Thr575Ser) c.2728A>T (p.Thr910Ser) c.2908A>T (p.Thr970Ser) | |
20 | g.51784393T>C | CA9911940 | SALL4 | c.3034A>G (p.Thr1012Ala) c.703A>G (p.Thr235Ala) c.1723A>G (p.Thr575Ala) c.2728A>G (p.Thr910Ala) c.2908A>G (p.Thr970Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.51784393T>G | CA409005816 | SALL4 | c.3034A>C (p.Thr1012Pro) c.703A>C (p.Thr235Pro) c.1723A>C (p.Thr575Pro) c.2728A>C (p.Thr910Pro) c.2908A>C (p.Thr970Pro) | dbSNP |
20 | g.51784393T= | CA2369155253 | SALL4 | c.3034A= (p.Thr1012=) c.703A= (p.Thr235=) c.1723A= (p.Thr575=) c.2728A= (p.Thr910=) c.2908A= (p.Thr970=) | |
20 | g.51784394G>A | CA511025696 | SALL4 | c.3033C>T (p.Ala1011=) c.702C>T (p.Ala234=) c.1722C>T (p.Ala574=) c.2727C>T (p.Ala909=) c.2907C>T (p.Ala969=) | gnomAD v4 |
20 | g.51784394G>C | CA511025697 | SALL4 | c.3033C>G (p.Ala1011=) c.702C>G (p.Ala234=) c.1722C>G (p.Ala574=) c.2727C>G (p.Ala909=) c.2907C>G (p.Ala969=) | |
20 | g.51784394G>T | CA511025698 | SALL4 | c.3033C>A (p.Ala1011=) c.702C>A (p.Ala234=) c.1722C>A (p.Ala574=) c.2727C>A (p.Ala909=) c.2907C>A (p.Ala969=) | dbSNP |
20 | g.51784395G>A | CA409005817 | SALL4 | c.3032C>T (p.Ala1011Val) c.701C>T (p.Ala234Val) c.1721C>T (p.Ala574Val) c.2726C>T (p.Ala909Val) c.2906C>T (p.Ala969Val) | |
20 | g.51784395G>C | CA409005818 | SALL4 | c.3032C>G (p.Ala1011Gly) c.701C>G (p.Ala234Gly) c.1721C>G (p.Ala574Gly) c.2726C>G (p.Ala909Gly) c.2906C>G (p.Ala969Gly) | |
20 | g.51784395G>T | CA409005819 | SALL4 | c.3032C>A (p.Ala1011Asp) c.701C>A (p.Ala234Asp) c.1721C>A (p.Ala574Asp) c.2726C>A (p.Ala909Asp) c.2906C>A (p.Ala969Asp) | |
20 | g.51784396C>A | CA409005820 | SALL4 | c.3031G>T (p.Ala1011Ser) c.700G>T (p.Ala234Ser) c.1720G>T (p.Ala574Ser) c.2725G>T (p.Ala909Ser) c.2905G>T (p.Ala969Ser) | |
20 | g.51784396C= | CA2369155254 | SALL4 | c.3031G= (p.Ala1011=) c.700G= (p.Ala234=) c.1720G= (p.Ala574=) c.2725G= (p.Ala909=) c.2905G= (p.Ala969=) | |
20 | g.51784396C>G | CA409005821 | SALL4 | c.3031G>C (p.Ala1011Pro) c.700G>C (p.Ala234Pro) c.1720G>C (p.Ala574Pro) c.2725G>C (p.Ala909Pro) c.2905G>C (p.Ala969Pro) | |
20 | g.51784396C>T | CA9911941 | SALL4 | c.3031G>A (p.Ala1011Thr) c.700G>A (p.Ala234Thr) c.1720G>A (p.Ala574Thr) c.2725G>A (p.Ala909Thr) c.2905G>A (p.Ala969Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.51784397G>A | CA9911942 | SALL4 | c.3030C>T (p.Asn1010=) c.699C>T (p.Asn233=) c.1719C>T (p.Asn573=) c.2724C>T (p.Asn908=) c.2904C>T (p.Asn968=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.51784397G>C | CA409005822 | SALL4 | c.3030C>G (p.Asn1010Lys) c.699C>G (p.Asn233Lys) c.1719C>G (p.Asn573Lys) c.2724C>G (p.Asn908Lys) c.2904C>G (p.Asn968Lys) | |
20 | g.51784397G= | CA2369155255 | SALL4 | c.3030C= (p.Asn1010=) c.699C= (p.Asn233=) c.1719C= (p.Asn573=) c.2724C= (p.Asn908=) c.2904C= (p.Asn968=) | |
20 | g.51784397G>T | CA9911943 | SALL4 | c.3030C>A (p.Asn1010Lys) c.699C>A (p.Asn233Lys) c.1719C>A (p.Asn573Lys) c.2724C>A (p.Asn908Lys) c.2904C>A (p.Asn968Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.51784398T>A | CA409005823 | SALL4 | c.3029A>T (p.Asn1010Ile) c.698A>T (p.Asn233Ile) c.1718A>T (p.Asn573Ile) c.2723A>T (p.Asn908Ile) c.2903A>T (p.Asn968Ile) | |
20 | g.51784398T>C | CA409005824 | SALL4 | c.3029A>G (p.Asn1010Ser) c.698A>G (p.Asn233Ser) c.1718A>G (p.Asn573Ser) c.2723A>G (p.Asn908Ser) c.2903A>G (p.Asn968Ser) | |
20 | g.51784398T>G | CA409005825 | SALL4 | c.3029A>C (p.Asn1010Thr) c.698A>C (p.Asn233Thr) c.1718A>C (p.Asn573Thr) c.2723A>C (p.Asn908Thr) c.2903A>C (p.Asn968Thr) | |
20 | g.51784399T>A | CA409005826 | SALL4 | c.3028A>T (p.Asn1010Tyr) c.697A>T (p.Asn233Tyr) c.1717A>T (p.Asn573Tyr) c.2722A>T (p.Asn908Tyr) c.2902A>T (p.Asn968Tyr) | |
20 | g.51784399T>C | CA409005827 | SALL4 | c.3028A>G (p.Asn1010Asp) c.697A>G (p.Asn233Asp) c.1717A>G (p.Asn573Asp) c.2722A>G (p.Asn908Asp) c.2902A>G (p.Asn968Asp) | |
20 | g.51784399T>G | CA409005828 | SALL4 | c.3028A>C (p.Asn1010His) c.697A>C (p.Asn233His) c.1717A>C (p.Asn573His) c.2722A>C (p.Asn908His) c.2902A>C (p.Asn968His) | |
20 | g.51784400A= | CA2369155256 | SALL4 | c.3027T= (p.Asn1009=) c.696T= (p.Asn232=) c.1716T= (p.Asn572=) c.2721T= (p.Asn907=) c.2901T= (p.Asn967=) | |
20 | g.51784400A>C | CA409005830 | SALL4 | c.3027T>G (p.Asn1009Lys) c.696T>G (p.Asn232Lys) c.1716T>G (p.Asn572Lys) c.2721T>G (p.Asn907Lys) c.2901T>G (p.Asn967Lys) | |
20 | g.51784400A>G | CA511025708 | SALL4 | c.3027T>C (p.Asn1009=) c.696T>C (p.Asn232=) c.1716T>C (p.Asn572=) c.2721T>C (p.Asn907=) c.2901T>C (p.Asn967=) | dbSNP gnomAD v4 |
20 | g.51784400A>T | CA409005829 | SALL4 | c.3027T>A (p.Asn1009Lys) c.696T>A (p.Asn232Lys) c.1716T>A (p.Asn572Lys) c.2721T>A (p.Asn907Lys) c.2901T>A (p.Asn967Lys) | |
20 | g.51784401T>A | CA409005831 | SALL4 | c.3026A>T (p.Asn1009Ile) c.695A>T (p.Asn232Ile) c.1715A>T (p.Asn572Ile) c.2720A>T (p.Asn907Ile) c.2900A>T (p.Asn967Ile) | |
20 | g.51784401T>C | CA409005832 | SALL4 | c.3026A>G (p.Asn1009Ser) c.695A>G (p.Asn232Ser) c.1715A>G (p.Asn572Ser) c.2720A>G (p.Asn907Ser) c.2900A>G (p.Asn967Ser) | gnomAD v4 |
20 | g.51784401T>G | CA409005833 | SALL4 | c.3026A>C (p.Asn1009Thr) c.695A>C (p.Asn232Thr) c.1715A>C (p.Asn572Thr) c.2720A>C (p.Asn907Thr) c.2900A>C (p.Asn967Thr) | |
20 | g.51784402T>A | CA409005834 | SALL4 | c.3025A>T (p.Asn1009Tyr) c.694A>T (p.Asn232Tyr) c.1714A>T (p.Asn572Tyr) c.2719A>T (p.Asn907Tyr) c.2899A>T (p.Asn967Tyr) | |
20 | g.51784402T>C | CA409005835 | SALL4 | c.3025A>G (p.Asn1009Asp) c.694A>G (p.Asn232Asp) c.1714A>G (p.Asn572Asp) c.2719A>G (p.Asn907Asp) c.2899A>G (p.Asn967Asp) | |
20 | g.51784402T>G | CA409005836 | SALL4 | c.3025A>C (p.Asn1009His) c.694A>C (p.Asn232His) c.1714A>C (p.Asn572His) c.2719A>C (p.Asn907His) c.2899A>C (p.Asn967His) | |
20 | g.51784403C>A | CA511025714 | SALL4 | c.3024G>T (p.Val1008=) c.693G>T (p.Val231=) c.1713G>T (p.Val571=) c.2718G>T (p.Val906=) c.2898G>T (p.Val966=) | gnomAD v4 |
20 | g.51784403C>G | CA511025715 | SALL4 | c.3024G>C (p.Val1008=) c.693G>C (p.Val231=) c.1713G>C (p.Val571=) c.2718G>C (p.Val906=) c.2898G>C (p.Val966=) | |
20 | g.51784403C>T | CA511025717 | SALL4 | c.3024G>A (p.Val1008=) c.693G>A (p.Val231=) c.1713G>A (p.Val571=) c.2718G>A (p.Val906=) c.2898G>A (p.Val966=) | COSMIC |
20 | g.51784404A>C | CA409005837 | SALL4 | c.3023T>G (p.Val1008Gly) c.692T>G (p.Val231Gly) c.1712T>G (p.Val571Gly) c.2717T>G (p.Val906Gly) c.2897T>G (p.Val966Gly) | |
20 | g.51784404A>G | CA409005839 | SALL4 | c.3023T>C (p.Val1008Ala) c.692T>C (p.Val231Ala) c.1712T>C (p.Val571Ala) c.2717T>C (p.Val906Ala) c.2897T>C (p.Val966Ala) | |
20 | g.51784404A>T | CA409005838 | SALL4 | c.3023T>A (p.Val1008Glu) c.692T>A (p.Val231Glu) c.1712T>A (p.Val571Glu) c.2717T>A (p.Val906Glu) c.2897T>A (p.Val966Glu) | |
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) |