Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.51784304_51785229delinsCTAAGGCAGGAGAATCACTTGAACCCAGAATCA645610833SALL4c.2743-545_3123delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG
c.412-545_792delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG
c.1432-545_1812delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG
c.2437-545_2817delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG
c.2617-545_2997delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG
 COSMIC
20g.51784355A=CA2369155233SALL4c.3072T= (p.Ser1024=)
c.741T= (p.Ser247=)
c.1761T= (p.Ser587=)
c.2766T= (p.Ser922=)
c.2946T= (p.Ser982=)
20g.51784355A>CCA409005737SALL4c.3072T>G (p.Ser1024Arg)
c.741T>G (p.Ser247Arg)
c.1761T>G (p.Ser587Arg)
c.2766T>G (p.Ser922Arg)
c.2946T>G (p.Ser982Arg)
20g.51784355A>GCA511025643SALL4c.3072T>C (p.Ser1024=)
c.741T>C (p.Ser247=)
c.1761T>C (p.Ser587=)
c.2766T>C (p.Ser922=)
c.2946T>C (p.Ser982=)
20g.51784355A>TCA9911928SALL4c.3072T>A (p.Ser1024Arg)
c.741T>A (p.Ser247Arg)
c.1761T>A (p.Ser587Arg)
c.2766T>A (p.Ser922Arg)
c.2946T>A (p.Ser982Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51784356C>ACA315365765SALL4c.3071G>T (p.Ser1024Ile)
c.740G>T (p.Ser247Ile)
c.1760G>T (p.Ser587Ile)
c.2765G>T (p.Ser922Ile)
c.2945G>T (p.Ser982Ile)
 dbSNP
20g.51784356C=CA2369155234SALL4c.3071G= (p.Ser1024=)
c.740G= (p.Ser247=)
c.1760G= (p.Ser587=)
c.2765G= (p.Ser922=)
c.2945G= (p.Ser982=)
20g.51784356C>GCA409005739SALL4c.3071G>C (p.Ser1024Thr)
c.740G>C (p.Ser247Thr)
c.1760G>C (p.Ser587Thr)
c.2765G>C (p.Ser922Thr)
c.2945G>C (p.Ser982Thr)
20g.51784356C>TCA409005738SALL4c.3071G>A (p.Ser1024Asn)
c.740G>A (p.Ser247Asn)
c.1760G>A (p.Ser587Asn)
c.2765G>A (p.Ser922Asn)
c.2945G>A (p.Ser982Asn)
20g.51784357T>ACA409005740SALL4c.3070A>T (p.Ser1024Cys)
c.739A>T (p.Ser247Cys)
c.1759A>T (p.Ser587Cys)
c.2764A>T (p.Ser922Cys)
c.2944A>T (p.Ser982Cys)
20g.51784357T>CCA409005741SALL4c.3070A>G (p.Ser1024Gly)
c.739A>G (p.Ser247Gly)
c.1759A>G (p.Ser587Gly)
c.2764A>G (p.Ser922Gly)
c.2944A>G (p.Ser982Gly)
20g.51784357T>GCA409005742SALL4c.3070A>C (p.Ser1024Arg)
c.739A>C (p.Ser247Arg)
c.1759A>C (p.Ser587Arg)
c.2764A>C (p.Ser922Arg)
c.2944A>C (p.Ser982Arg)
20g.51784358G>ACA9911929SALL4c.3069C>T (p.Ile1023=)
c.738C>T (p.Ile246=)
c.1758C>T (p.Ile586=)
c.2763C>T (p.Ile921=)
c.2943C>T (p.Ile981=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51784358G>CCA409005743SALL4c.3069C>G (p.Ile1023Met)
c.738C>G (p.Ile246Met)
c.1758C>G (p.Ile586Met)
c.2763C>G (p.Ile921Met)
c.2943C>G (p.Ile981Met)
20g.51784358G=CA2369155235SALL4c.3069C= (p.Ile1023=)
c.738C= (p.Ile246=)
c.1758C= (p.Ile586=)
c.2763C= (p.Ile921=)
c.2943C= (p.Ile981=)
20g.51784358G>TCA9911930SALL4c.3069C>A (p.Ile1023=)
c.738C>A (p.Ile246=)
c.1758C>A (p.Ile586=)
c.2763C>A (p.Ile921=)
c.2943C>A (p.Ile981=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51784359A=CA2369155236SALL4c.3068T= (p.Ile1023=)
c.737T= (p.Ile246=)
c.1757T= (p.Ile586=)
c.2762T= (p.Ile921=)
c.2942T= (p.Ile981=)
20g.51784359A>CCA409005746SALL4c.3068T>G (p.Ile1023Ser)
c.737T>G (p.Ile246Ser)
c.1757T>G (p.Ile586Ser)
c.2762T>G (p.Ile921Ser)
c.2942T>G (p.Ile981Ser)
20g.51784359A>GCA409005744SALL4c.3068T>C (p.Ile1023Thr)
c.737T>C (p.Ile246Thr)
c.1757T>C (p.Ile586Thr)
c.2762T>C (p.Ile921Thr)
c.2942T>C (p.Ile981Thr)
 dbSNP gnomAD v3 gnomAD v4
20g.51784359A>TCA409005745SALL4c.3068T>A (p.Ile1023Asn)
c.737T>A (p.Ile246Asn)
c.1757T>A (p.Ile586Asn)
c.2762T>A (p.Ile921Asn)
c.2942T>A (p.Ile981Asn)
20g.51784360T>ACA409005747SALL4c.3067A>T (p.Ile1023Phe)
c.736A>T (p.Ile246Phe)
c.1756A>T (p.Ile586Phe)
c.2761A>T (p.Ile921Phe)
c.2941A>T (p.Ile981Phe)
 dbSNP
20g.51784360T>CCA409005748SALL4c.3067A>G (p.Ile1023Val)
c.736A>G (p.Ile246Val)
c.1756A>G (p.Ile586Val)
c.2761A>G (p.Ile921Val)
c.2941A>G (p.Ile981Val)
 dbSNP gnomAD v4
20g.51784360T>GCA409005749SALL4c.3067A>C (p.Ile1023Leu)
c.736A>C (p.Ile246Leu)
c.1756A>C (p.Ile586Leu)
c.2761A>C (p.Ile921Leu)
c.2941A>C (p.Ile981Leu)
20g.51784360T=CA2369155237SALL4c.3067A= (p.Ile1023=)
c.736A= (p.Ile246=)
c.1756A= (p.Ile586=)
c.2761A= (p.Ile921=)
c.2941A= (p.Ile981=)
20g.51784361A>CCA511025650SALL4c.3066T>G (p.Gly1022=)
c.735T>G (p.Gly245=)
c.1755T>G (p.Gly585=)
c.2760T>G (p.Gly920=)
c.2940T>G (p.Gly980=)
20g.51784361A>GCA511025651SALL4c.3066T>C (p.Gly1022=)
c.735T>C (p.Gly245=)
c.1755T>C (p.Gly585=)
c.2760T>C (p.Gly920=)
c.2940T>C (p.Gly980=)
20g.51784361A>TCA511025649SALL4c.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
20g.51784362C>ACA409005750SALL4c.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
20g.51784362C=CA2369155238SALL4c.3065G= (p.Gly1022=)
c.734G= (p.Gly245=)
c.1754G= (p.Gly585=)
c.2759G= (p.Gly920=)
c.2939G= (p.Gly980=)
20g.51784362C>GCA315365790SALL4c.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
20g.51784362C>TCA409005751SALL4c.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
20g.51784363C>ACA409005752SALL4c.3064G>T (p.Gly1022Cys)
c.733G>T (p.Gly245Cys)
c.1753G>T (p.Gly585Cys)
c.2758G>T (p.Gly920Cys)
c.2938G>T (p.Gly980Cys)
20g.51784363C=CA2369155239SALL4c.3064G= (p.Gly1022=)
c.733G= (p.Gly245=)
c.1753G= (p.Gly585=)
c.2758G= (p.Gly920=)
c.2938G= (p.Gly980=)
20g.51784363C>GCA9911931SALL4c.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
20g.51784363C>TCA409005753SALL4c.3064G>A (p.Gly1022Ser)
c.733G>A (p.Gly245Ser)
c.1753G>A (p.Gly585Ser)
c.2758G>A (p.Gly920Ser)
c.2938G>A (p.Gly980Ser)
20g.51784364C>ACA511025655SALL4c.3063G>T (p.Ser1021=)
c.732G>T (p.Ser244=)
c.1752G>T (p.Ser584=)
c.2757G>T (p.Ser919=)
c.2937G>T (p.Ser979=)
20g.51784364C=CA2369155240SALL4c.3063G= (p.Ser1021=)
c.732G= (p.Ser244=)
c.1752G= (p.Ser584=)
c.2757G= (p.Ser919=)
c.2937G= (p.Ser979=)
20g.51784364C>GCA511025656SALL4c.3063G>C (p.Ser1021=)
c.732G>C (p.Ser244=)
c.1752G>C (p.Ser584=)
c.2757G>C (p.Ser919=)
c.2937G>C (p.Ser979=)
20g.51784364C>TCA9911932SALL4c.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
20g.51784365G>ACA9911933SALL4c.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
20g.51784365G>CCA409005754SALL4c.3062C>G (p.Ser1021Trp)
c.731C>G (p.Ser244Trp)
c.1751C>G (p.Ser584Trp)
c.2756C>G (p.Ser919Trp)
c.2936C>G (p.Ser979Trp)
20g.51784365G=CA2369155241SALL4c.3062C= (p.Ser1021=)
c.731C= (p.Ser244=)
c.1751C= (p.Ser584=)
c.2756C= (p.Ser919=)
c.2936C= (p.Ser979=)
20g.51784365G>TCA409005755SALL4c.3062C>A (p.Ser1021Ter)
c.731C>A (p.Ser244Ter)
c.1751C>A (p.Ser584Ter)
c.2756C>A (p.Ser919Ter)
c.2936C>A (p.Ser979Ter)
20g.51784366A>CCA409005756SALL4c.3061T>G (p.Ser1021Ala)
c.730T>G (p.Ser244Ala)
c.1750T>G (p.Ser584Ala)
c.2755T>G (p.Ser919Ala)
c.2935T>G (p.Ser979Ala)
20g.51784366A>GCA409005757SALL4c.3061T>C (p.Ser1021Pro)
c.730T>C (p.Ser244Pro)
c.1750T>C (p.Ser584Pro)
c.2755T>C (p.Ser919Pro)
c.2935T>C (p.Ser979Pro)
20g.51784366A>TCA409005758SALL4c.3061T>A (p.Ser1021Thr)
c.730T>A (p.Ser244Thr)
c.1750T>A (p.Ser584Thr)
c.2755T>A (p.Ser919Thr)
c.2935T>A (p.Ser979Thr)
20g.51784367delCA2695229962SALL4c.3060del (p.Gln1020HisfsTer?)
c.729del (p.Gln243HisfsTer?)
c.1749del (p.Gln583HisfsTer?)
c.2754del (p.Gln918HisfsTer?)
c.2934del (p.Gln978HisfsTer?)
20g.51784367C>ACA409005759SALL4c.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
20g.51784367C>GCA409005760SALL4c.3060G>C (p.Gln1020His)
c.729G>C (p.Gln243His)
c.1749G>C (p.Gln583His)
c.2754G>C (p.Gln918His)
c.2934G>C (p.Gln978His)
20g.51784367C>TCA511025658SALL4c.3060G>A (p.Gln1020=)
c.729G>A (p.Gln243=)
c.1749G>A (p.Gln583=)
c.2754G>A (p.Gln918=)
c.2934G>A (p.Gln978=)
20g.51784368T>ACA409005761SALL4c.3059A>T (p.Gln1020Leu)
c.728A>T (p.Gln243Leu)
c.1748A>T (p.Gln583Leu)
c.2753A>T (p.Gln918Leu)
c.2933A>T (p.Gln978Leu)
20g.51784368T>CCA409005762SALL4c.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
20g.51784368T>GCA409005763SALL4c.3059A>C (p.Gln1020Pro)
c.728A>C (p.Gln243Pro)
c.1748A>C (p.Gln583Pro)
c.2753A>C (p.Gln918Pro)
c.2933A>C (p.Gln978Pro)
20g.51784369G>ACA409005764SALL4c.3058C>T (p.Gln1020Ter)
c.727C>T (p.Gln243Ter)
c.1747C>T (p.Gln583Ter)
c.2752C>T (p.Gln918Ter)
c.2932C>T (p.Gln978Ter)
20g.51784369G>CCA409005766SALL4c.3058C>G (p.Gln1020Glu)
c.727C>G (p.Gln243Glu)
c.1747C>G (p.Gln583Glu)
c.2752C>G (p.Gln918Glu)
c.2932C>G (p.Gln978Glu)
20g.51784369G>TCA409005765SALL4c.3058C>A (p.Gln1020Lys)
c.727C>A (p.Gln243Lys)
c.1747C>A (p.Gln583Lys)
c.2752C>A (p.Gln918Lys)
c.2932C>A (p.Gln978Lys)
20g.51784371delCA2580618158SALL4c.3058del (p.Gln1020SerfsTer?)
c.727del (p.Gln243SerfsTer?)
c.1747del (p.Gln583SerfsTer?)
c.2752del (p.Gln918SerfsTer?)
c.2932del (p.Gln978SerfsTer?)
 ClinVar
20g.51784370G>ACA511025660SALL4c.3057C>T (p.Ser1019=)
c.726C>T (p.Ser242=)
c.1746C>T (p.Ser582=)
c.2751C>T (p.Ser917=)
c.2931C>T (p.Ser977=)
20g.51784370G>CCA9911934SALL4c.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
20g.51784370G=CA2369155242SALL4c.3057C= (p.Ser1019=)
c.726C= (p.Ser242=)
c.1746C= (p.Ser582=)
c.2751C= (p.Ser917=)
c.2931C= (p.Ser977=)
20g.51784370G>TCA511025661SALL4c.3057C>A (p.Ser1019=)
c.726C>A (p.Ser242=)
c.1746C>A (p.Ser582=)
c.2751C>A (p.Ser917=)
c.2931C>A (p.Ser977=)
20g.51784371G>ACA409005767SALL4c.3056C>T (p.Ser1019Phe)
c.725C>T (p.Ser242Phe)
c.1745C>T (p.Ser582Phe)
c.2750C>T (p.Ser917Phe)
c.2930C>T (p.Ser977Phe)
20g.51784371G>CCA409005768SALL4c.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
20g.51784371G>TCA409005769SALL4c.3056C>A (p.Ser1019Tyr)
c.725C>A (p.Ser242Tyr)
c.1745C>A (p.Ser582Tyr)
c.2750C>A (p.Ser917Tyr)
c.2930C>A (p.Ser977Tyr)
20g.51784372A=CA2369155243SALL4c.3055T= (p.Ser1019=)
c.724T= (p.Ser242=)
c.1744T= (p.Ser582=)
c.2749T= (p.Ser917=)
c.2929T= (p.Ser977=)
20g.51784372A>CCA409005770SALL4c.3055T>G (p.Ser1019Ala)
c.724T>G (p.Ser242Ala)
c.1744T>G (p.Ser582Ala)
c.2749T>G (p.Ser917Ala)
c.2929T>G (p.Ser977Ala)
20g.51784372A>GCA409005771SALL4c.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
20g.51784372A>TCA409005772SALL4c.3055T>A (p.Ser1019Thr)
c.724T>A (p.Ser242Thr)
c.1744T>A (p.Ser582Thr)
c.2749T>A (p.Ser917Thr)
c.2929T>A (p.Ser977Thr)
20g.51784373G>ACA511025667SALL4c.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
20g.51784373G>CCA511025666SALL4c.3054C>G (p.Gly1018=)
c.723C>G (p.Gly241=)
c.1743C>G (p.Gly581=)
c.2748C>G (p.Gly916=)
c.2928C>G (p.Gly976=)
20g.51784373G>TCA511025663SALL4c.3054C>A (p.Gly1018=)
c.723C>A (p.Gly241=)
c.1743C>A (p.Gly581=)
c.2748C>A (p.Gly916=)
c.2928C>A (p.Gly976=)
20g.51784374C>ACA409005773SALL4c.3053G>T (p.Gly1018Val)
c.722G>T (p.Gly241Val)
c.1742G>T (p.Gly581Val)
c.2747G>T (p.Gly916Val)
c.2927G>T (p.Gly976Val)
20g.51784374C=CA2369155244SALL4c.3053G= (p.Gly1018=)
c.722G= (p.Gly241=)
c.1742G= (p.Gly581=)
c.2747G= (p.Gly916=)
c.2927G= (p.Gly976=)
20g.51784374C>GCA409005774SALL4c.3053G>C (p.Gly1018Ala)
c.722G>C (p.Gly241Ala)
c.1742G>C (p.Gly581Ala)
c.2747G>C (p.Gly916Ala)
c.2927G>C (p.Gly976Ala)
20g.51784374C>TCA409005775SALL4c.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
20g.51784375C>ACA409005776SALL4c.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
20g.51784375C>GCA409005777SALL4c.3052G>C (p.Gly1018Arg)
c.721G>C (p.Gly241Arg)
c.1741G>C (p.Gly581Arg)
c.2746G>C (p.Gly916Arg)
c.2926G>C (p.Gly976Arg)
20g.51784375C>TCA409005778SALL4c.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
20g.51784376A>CCA409005780SALL4c.3051T>G (p.Asp1017Glu)
c.720T>G (p.Asp240Glu)
c.1740T>G (p.Asp580Glu)
c.2745T>G (p.Asp915Glu)
c.2925T>G (p.Asp975Glu)
20g.51784376A>GCA511025668SALL4c.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
20g.51784376A>TCA409005779SALL4c.3051T>A (p.Asp1017Glu)
c.720T>A (p.Asp240Glu)
c.1740T>A (p.Asp580Glu)
c.2745T>A (p.Asp915Glu)
c.2925T>A (p.Asp975Glu)
20g.51784377T>ACA9911935SALL4c.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
20g.51784377T>CCA409005781SALL4c.3050A>G (p.Asp1017Gly)
c.719A>G (p.Asp240Gly)
c.1739A>G (p.Asp580Gly)
c.2744A>G (p.Asp915Gly)
c.2924A>G (p.Asp975Gly)
20g.51784377T>GCA409005782SALL4c.3050A>C (p.Asp1017Ala)
c.719A>C (p.Asp240Ala)
c.1739A>C (p.Asp580Ala)
c.2744A>C (p.Asp915Ala)
c.2924A>C (p.Asp975Ala)
20g.51784377T=CA2369155245SALL4c.3050A= (p.Asp1017=)
c.719A= (p.Asp240=)
c.1739A= (p.Asp580=)
c.2744A= (p.Asp915=)
c.2924A= (p.Asp975=)
20g.51784378C>ACA409005783SALL4c.3049G>T (p.Asp1017Tyr)
c.718G>T (p.Asp240Tyr)
c.1738G>T (p.Asp580Tyr)
c.2743G>T (p.Asp915Tyr)
c.2923G>T (p.Asp975Tyr)
20g.51784378C>GCA409005784SALL4c.3049G>C (p.Asp1017His)
c.718G>C (p.Asp240His)
c.1738G>C (p.Asp580His)
c.2743G>C (p.Asp915His)
c.2923G>C (p.Asp975His)
20g.51784378C>TCA409005785SALL4c.3049G>A (p.Asp1017Asn)
c.718G>A (p.Asp240Asn)
c.1738G>A (p.Asp580Asn)
c.2743G>A (p.Asp915Asn)
c.2923G>A (p.Asp975Asn)
20g.51784379C>ACA409005786SALL4c.3048G>T (p.Met1016Ile)
c.717G>T (p.Met239Ile)
c.1737G>T (p.Met579Ile)
c.2742G>T (p.Met914Ile)
c.2922G>T (p.Met974Ile)
20g.51784379C>GCA409005787SALL4c.3048G>C (p.Met1016Ile)
c.717G>C (p.Met239Ile)
c.1737G>C (p.Met579Ile)
c.2742G>C (p.Met914Ile)
c.2922G>C (p.Met974Ile)
20g.51784379C>TCA409005788SALL4c.3048G>A (p.Met1016Ile)
c.717G>A (p.Met239Ile)
c.1737G>A (p.Met579Ile)
c.2742G>A (p.Met914Ile)
c.2922G>A (p.Met974Ile)
20g.51784380A=CA2369155246SALL4c.3047T= (p.Met1016=)
c.716T= (p.Met239=)
c.1736T= (p.Met579=)
c.2741T= (p.Met914=)
c.2921T= (p.Met974=)
20g.51784380A>CCA409005789SALL4c.3047T>G (p.Met1016Arg)
c.716T>G (p.Met239Arg)
c.1736T>G (p.Met579Arg)
c.2741T>G (p.Met914Arg)
c.2921T>G (p.Met974Arg)
20g.51784380A>GCA409005790SALL4c.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
20g.51784380A>TCA409005791SALL4c.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
20g.51784381T>ACA409005794SALL4c.3046A>T (p.Met1016Leu)
c.715A>T (p.Met239Leu)
c.1735A>T (p.Met579Leu)
c.2740A>T (p.Met914Leu)
c.2920A>T (p.Met974Leu)
20g.51784381T>CCA409005793SALL4c.3046A>G (p.Met1016Val)
c.715A>G (p.Met239Val)
c.1735A>G (p.Met579Val)
c.2740A>G (p.Met914Val)
c.2920A>G (p.Met974Val)
20g.51784381T>GCA409005792SALL4c.3046A>C (p.Met1016Leu)
c.715A>C (p.Met239Leu)
c.1735A>C (p.Met579Leu)
c.2740A>C (p.Met914Leu)
c.2920A>C (p.Met974Leu)
20g.51784382C>ACA409005795SALL4c.3045G>T (p.Lys1015Asn)
c.714G>T (p.Lys238Asn)
c.1734G>T (p.Lys578Asn)
c.2739G>T (p.Lys913Asn)
c.2919G>T (p.Lys973Asn)
20g.51784382C=CA2369155247SALL4c.3045G= (p.Lys1015=)
c.714G= (p.Lys238=)
c.1734G= (p.Lys578=)
c.2739G= (p.Lys913=)
c.2919G= (p.Lys973=)
20g.51784382C>GCA409005796SALL4c.3045G>C (p.Lys1015Asn)
c.714G>C (p.Lys238Asn)
c.1734G>C (p.Lys578Asn)
c.2739G>C (p.Lys913Asn)
c.2919G>C (p.Lys973Asn)
20g.51784382C>TCA9911936SALL4c.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
20g.51784383T>ACA409005797SALL4c.3044A>T (p.Lys1015Met)
c.713A>T (p.Lys238Met)
c.1733A>T (p.Lys578Met)
c.2738A>T (p.Lys913Met)
c.2918A>T (p.Lys973Met)
20g.51784383T>CCA409005798SALL4c.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
20g.51784383T>GCA409005799SALL4c.3044A>C (p.Lys1015Thr)
c.713A>C (p.Lys238Thr)
c.1733A>C (p.Lys578Thr)
c.2738A>C (p.Lys913Thr)
c.2918A>C (p.Lys973Thr)
20g.51784384T>ACA409005800SALL4c.3043A>T (p.Lys1015Ter)
c.712A>T (p.Lys238Ter)
c.1732A>T (p.Lys578Ter)
c.2737A>T (p.Lys913Ter)
c.2917A>T (p.Lys973Ter)
20g.51784384T>CCA9911938SALL4c.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
20g.51784384T>GCA9911937SALL4c.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
20g.51784384T=CA2369155248SALL4c.3043A= (p.Lys1015=)
c.712A= (p.Lys238=)
c.1732A= (p.Lys578=)
c.2737A= (p.Lys913=)
c.2917A= (p.Lys973=)
20g.51784385G>ACA511025679SALL4c.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
20g.51784385G>CCA511025680SALL4c.3042C>G (p.Ser1014=)
c.711C>G (p.Ser237=)
c.1731C>G (p.Ser577=)
c.2736C>G (p.Ser912=)
c.2916C>G (p.Ser972=)
20g.51784385G>TCA511025681SALL4c.3042C>A (p.Ser1014=)
c.711C>A (p.Ser237=)
c.1731C>A (p.Ser577=)
c.2736C>A (p.Ser912=)
c.2916C>A (p.Ser972=)
20g.51784386G>ACA409005803SALL4c.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
20g.51784386G>CCA409005802SALL4c.3041C>G (p.Ser1014Cys)
c.710C>G (p.Ser237Cys)
c.1730C>G (p.Ser577Cys)
c.2735C>G (p.Ser912Cys)
c.2915C>G (p.Ser972Cys)
20g.51784386G=CA2369155249SALL4c.3041C= (p.Ser1014=)
c.710C= (p.Ser237=)
c.1730C= (p.Ser577=)
c.2735C= (p.Ser912=)
c.2915C= (p.Ser972=)
20g.51784386G>TCA409005801SALL4c.3041C>A (p.Ser1014Tyr)
c.710C>A (p.Ser237Tyr)
c.1730C>A (p.Ser577Tyr)
c.2735C>A (p.Ser912Tyr)
c.2915C>A (p.Ser972Tyr)
20g.51784387A=CA2369155250SALL4c.3040T= (p.Ser1014=)
c.709T= (p.Ser237=)
c.1729T= (p.Ser577=)
c.2734T= (p.Ser912=)
c.2914T= (p.Ser972=)
20g.51784387A>CCA409005804SALL4c.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
20g.51784387A>GCA409005805SALL4c.3040T>C (p.Ser1014Pro)
c.709T>C (p.Ser237Pro)
c.1729T>C (p.Ser577Pro)
c.2734T>C (p.Ser912Pro)
c.2914T>C (p.Ser972Pro)
20g.51784387A>TCA409005806SALL4c.3040T>A (p.Ser1014Thr)
c.709T>A (p.Ser237Thr)
c.1729T>A (p.Ser577Thr)
c.2734T>A (p.Ser912Thr)
c.2914T>A (p.Ser972Thr)
20g.51784388G>ACA511025683SALL4c.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
20g.51784388G>CCA315365859SALL4c.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
20g.51784388G=CA2369155251SALL4c.3039C= (p.Val1013=)
c.708C= (p.Val236=)
c.1728C= (p.Val576=)
c.2733C= (p.Val911=)
c.2913C= (p.Val971=)
20g.51784388G>TCA511025684SALL4c.3039C>A (p.Val1013=)
c.708C>A (p.Val236=)
c.1728C>A (p.Val576=)
c.2733C>A (p.Val911=)
c.2913C>A (p.Val971=)
20g.51784389A>CCA409005807SALL4c.3038T>G (p.Val1013Gly)
c.707T>G (p.Val236Gly)
c.1727T>G (p.Val576Gly)
c.2732T>G (p.Val911Gly)
c.2912T>G (p.Val971Gly)
20g.51784389A>GCA409005808SALL4c.3038T>C (p.Val1013Ala)
c.707T>C (p.Val236Ala)
c.1727T>C (p.Val576Ala)
c.2732T>C (p.Val911Ala)
c.2912T>C (p.Val971Ala)
20g.51784389A>TCA409005809SALL4c.3038T>A (p.Val1013Asp)
c.707T>A (p.Val236Asp)
c.1727T>A (p.Val576Asp)
c.2732T>A (p.Val911Asp)
c.2912T>A (p.Val971Asp)
20g.51784390C>ACA409005810SALL4c.3037G>T (p.Val1013Phe)
c.706G>T (p.Val236Phe)
c.1726G>T (p.Val576Phe)
c.2731G>T (p.Val911Phe)
c.2911G>T (p.Val971Phe)
20g.51784390C=CA2369155252SALL4c.3037G= (p.Val1013=)
c.706G= (p.Val236=)
c.1726G= (p.Val576=)
c.2731G= (p.Val911=)
c.2911G= (p.Val971=)
20g.51784390C>GCA409005811SALL4c.3037G>C (p.Val1013Leu)
c.706G>C (p.Val236Leu)
c.1726G>C (p.Val576Leu)
c.2731G>C (p.Val911Leu)
c.2911G>C (p.Val971Leu)
20g.51784390C>TCA9911939SALL4c.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
20g.51784391A>CCA511025688SALL4c.3036T>G (p.Thr1012=)
c.705T>G (p.Thr235=)
c.1725T>G (p.Thr575=)
c.2730T>G (p.Thr910=)
c.2910T>G (p.Thr970=)
20g.51784391A>GCA511025689SALL4c.3036T>C (p.Thr1012=)
c.705T>C (p.Thr235=)
c.1725T>C (p.Thr575=)
c.2730T>C (p.Thr910=)
c.2910T>C (p.Thr970=)
20g.51784391A>TCA511025690SALL4c.3036T>A (p.Thr1012=)
c.705T>A (p.Thr235=)
c.1725T>A (p.Thr575=)
c.2730T>A (p.Thr910=)
c.2910T>A (p.Thr970=)
20g.51784392G>ACA409005812SALL4c.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
20g.51784392G>CCA409005813SALL4c.3035C>G (p.Thr1012Ser)
c.704C>G (p.Thr235Ser)
c.1724C>G (p.Thr575Ser)
c.2729C>G (p.Thr910Ser)
c.2909C>G (p.Thr970Ser)
20g.51784392G>TCA409005814SALL4c.3035C>A (p.Thr1012Asn)
c.704C>A (p.Thr235Asn)
c.1724C>A (p.Thr575Asn)
c.2729C>A (p.Thr910Asn)
c.2909C>A (p.Thr970Asn)
20g.51784393T>ACA409005815SALL4c.3034A>T (p.Thr1012Ser)
c.703A>T (p.Thr235Ser)
c.1723A>T (p.Thr575Ser)
c.2728A>T (p.Thr910Ser)
c.2908A>T (p.Thr970Ser)
20g.51784393T>CCA9911940SALL4c.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
20g.51784393T>GCA409005816SALL4c.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
20g.51784393T=CA2369155253SALL4c.3034A= (p.Thr1012=)
c.703A= (p.Thr235=)
c.1723A= (p.Thr575=)
c.2728A= (p.Thr910=)
c.2908A= (p.Thr970=)
20g.51784394G>ACA511025696SALL4c.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
20g.51784394G>CCA511025697SALL4c.3033C>G (p.Ala1011=)
c.702C>G (p.Ala234=)
c.1722C>G (p.Ala574=)
c.2727C>G (p.Ala909=)
c.2907C>G (p.Ala969=)
20g.51784394G>TCA511025698SALL4c.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
20g.51784395G>ACA409005817SALL4c.3032C>T (p.Ala1011Val)
c.701C>T (p.Ala234Val)
c.1721C>T (p.Ala574Val)
c.2726C>T (p.Ala909Val)
c.2906C>T (p.Ala969Val)
20g.51784395G>CCA409005818SALL4c.3032C>G (p.Ala1011Gly)
c.701C>G (p.Ala234Gly)
c.1721C>G (p.Ala574Gly)
c.2726C>G (p.Ala909Gly)
c.2906C>G (p.Ala969Gly)
20g.51784395G>TCA409005819SALL4c.3032C>A (p.Ala1011Asp)
c.701C>A (p.Ala234Asp)
c.1721C>A (p.Ala574Asp)
c.2726C>A (p.Ala909Asp)
c.2906C>A (p.Ala969Asp)
20g.51784396C>ACA409005820SALL4c.3031G>T (p.Ala1011Ser)
c.700G>T (p.Ala234Ser)
c.1720G>T (p.Ala574Ser)
c.2725G>T (p.Ala909Ser)
c.2905G>T (p.Ala969Ser)
20g.51784396C=CA2369155254SALL4c.3031G= (p.Ala1011=)
c.700G= (p.Ala234=)
c.1720G= (p.Ala574=)
c.2725G= (p.Ala909=)
c.2905G= (p.Ala969=)
20g.51784396C>GCA409005821SALL4c.3031G>C (p.Ala1011Pro)
c.700G>C (p.Ala234Pro)
c.1720G>C (p.Ala574Pro)
c.2725G>C (p.Ala909Pro)
c.2905G>C (p.Ala969Pro)
20g.51784396C>TCA9911941SALL4c.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
20g.51784397G>ACA9911942SALL4c.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
20g.51784397G>CCA409005822SALL4c.3030C>G (p.Asn1010Lys)
c.699C>G (p.Asn233Lys)
c.1719C>G (p.Asn573Lys)
c.2724C>G (p.Asn908Lys)
c.2904C>G (p.Asn968Lys)
20g.51784397G=CA2369155255SALL4c.3030C= (p.Asn1010=)
c.699C= (p.Asn233=)
c.1719C= (p.Asn573=)
c.2724C= (p.Asn908=)
c.2904C= (p.Asn968=)
20g.51784397G>TCA9911943SALL4c.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
20g.51784398T>ACA409005823SALL4c.3029A>T (p.Asn1010Ile)
c.698A>T (p.Asn233Ile)
c.1718A>T (p.Asn573Ile)
c.2723A>T (p.Asn908Ile)
c.2903A>T (p.Asn968Ile)
20g.51784398T>CCA409005824SALL4c.3029A>G (p.Asn1010Ser)
c.698A>G (p.Asn233Ser)
c.1718A>G (p.Asn573Ser)
c.2723A>G (p.Asn908Ser)
c.2903A>G (p.Asn968Ser)
20g.51784398T>GCA409005825SALL4c.3029A>C (p.Asn1010Thr)
c.698A>C (p.Asn233Thr)
c.1718A>C (p.Asn573Thr)
c.2723A>C (p.Asn908Thr)
c.2903A>C (p.Asn968Thr)
20g.51784399T>ACA409005826SALL4c.3028A>T (p.Asn1010Tyr)
c.697A>T (p.Asn233Tyr)
c.1717A>T (p.Asn573Tyr)
c.2722A>T (p.Asn908Tyr)
c.2902A>T (p.Asn968Tyr)
20g.51784399T>CCA409005827SALL4c.3028A>G (p.Asn1010Asp)
c.697A>G (p.Asn233Asp)
c.1717A>G (p.Asn573Asp)
c.2722A>G (p.Asn908Asp)
c.2902A>G (p.Asn968Asp)
20g.51784399T>GCA409005828SALL4c.3028A>C (p.Asn1010His)
c.697A>C (p.Asn233His)
c.1717A>C (p.Asn573His)
c.2722A>C (p.Asn908His)
c.2902A>C (p.Asn968His)
20g.51784400A=CA2369155256SALL4c.3027T= (p.Asn1009=)
c.696T= (p.Asn232=)
c.1716T= (p.Asn572=)
c.2721T= (p.Asn907=)
c.2901T= (p.Asn967=)
20g.51784400A>CCA409005830SALL4c.3027T>G (p.Asn1009Lys)
c.696T>G (p.Asn232Lys)
c.1716T>G (p.Asn572Lys)
c.2721T>G (p.Asn907Lys)
c.2901T>G (p.Asn967Lys)
20g.51784400A>GCA511025708SALL4c.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
20g.51784400A>TCA409005829SALL4c.3027T>A (p.Asn1009Lys)
c.696T>A (p.Asn232Lys)
c.1716T>A (p.Asn572Lys)
c.2721T>A (p.Asn907Lys)
c.2901T>A (p.Asn967Lys)
20g.51784401T>ACA409005831SALL4c.3026A>T (p.Asn1009Ile)
c.695A>T (p.Asn232Ile)
c.1715A>T (p.Asn572Ile)
c.2720A>T (p.Asn907Ile)
c.2900A>T (p.Asn967Ile)
20g.51784401T>CCA409005832SALL4c.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
20g.51784401T>GCA409005833SALL4c.3026A>C (p.Asn1009Thr)
c.695A>C (p.Asn232Thr)
c.1715A>C (p.Asn572Thr)
c.2720A>C (p.Asn907Thr)
c.2900A>C (p.Asn967Thr)
20g.51784402T>ACA409005834SALL4c.3025A>T (p.Asn1009Tyr)
c.694A>T (p.Asn232Tyr)
c.1714A>T (p.Asn572Tyr)
c.2719A>T (p.Asn907Tyr)
c.2899A>T (p.Asn967Tyr)
20g.51784402T>CCA409005835SALL4c.3025A>G (p.Asn1009Asp)
c.694A>G (p.Asn232Asp)
c.1714A>G (p.Asn572Asp)
c.2719A>G (p.Asn907Asp)
c.2899A>G (p.Asn967Asp)
20g.51784402T>GCA409005836SALL4c.3025A>C (p.Asn1009His)
c.694A>C (p.Asn232His)
c.1714A>C (p.Asn572His)
c.2719A>C (p.Asn907His)
c.2899A>C (p.Asn967His)
20g.51784403C>ACA511025714SALL4c.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
20g.51784403C>GCA511025715SALL4c.3024G>C (p.Val1008=)
c.693G>C (p.Val231=)
c.1713G>C (p.Val571=)
c.2718G>C (p.Val906=)
c.2898G>C (p.Val966=)
20g.51784403C>TCA511025717SALL4c.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
20g.51784404A>CCA409005837SALL4c.3023T>G (p.Val1008Gly)
c.692T>G (p.Val231Gly)
c.1712T>G (p.Val571Gly)
c.2717T>G (p.Val906Gly)
c.2897T>G (p.Val966Gly)
20g.51784404A>GCA409005839SALL4c.3023T>C (p.Val1008Ala)
c.692T>C (p.Val231Ala)
c.1712T>C (p.Val571Ala)
c.2717T>C (p.Val906Ala)
c.2897T>C (p.Val966Ala)
20g.51784404A>TCA409005838SALL4c.3023T>A (p.Val1008Glu)
c.692T>A (p.Val231Glu)
c.1712T>A (p.Val571Glu)
c.2717T>A (p.Val906Glu)
c.2897T>A (p.Val966Glu)
20g.51784405C>ACA409005840SALL4c.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
20g.51784405C>GCA409005841SALL4c.3022G>C (p.Val1008Leu)
c.691G>C (p.Val231Leu)
c.1711G>C (p.Val571Leu)
c.2716G>C (p.Val906Leu)
c.2896G>C (p.Val966Leu)
20g.51784405C>TCA409005842SALL4c.3022G>A (p.Val1008Met)
c.691G>A (p.Val231Met)
c.1711G>A (p.Val571Met)
c.2716G>A (p.Val906Met)
c.2896G>A (p.Val966Met)
20g.51784406A>CCA511025723SALL4c.3021T>G (p.Val1007=)
c.690T>G (p.Val230=)
c.1710T>G (p.Val570=)
c.2715T>G (p.Val905=)
c.2895T>G (p.Val965=)
20g.51784406A>GCA511025724SALL4c.3021T>C (p.Val1007=)
c.690T>C (p.Val230=)
c.1710T>C (p.Val570=)
c.2715T>C (p.Val905=)
c.2895T>C (p.Val965=)
20g.51784406A>TCA511025725SALL4c.3021T>A (p.Val1007=)
c.690T>A (p.Val230=)
c.1710T>A (p.Val570=)
c.2715T>A (p.Val905=)
c.2895T>A (p.Val965=)
20g.51784407A=CA2369155257SALL4c.3020T= (p.Val1007=)
c.689T= (p.Val230=)
c.1709T= (p.Val570=)
c.2714T= (p.Val905=)
c.2894T= (p.Val965=)
20g.51784407A>CCA409005843SALL4c.3020T>G (p.Val1007Gly)
c.689T>G (p.Val230Gly)
c.1709T>G (p.Val570Gly)
c.2714T>G (p.Val905Gly)
c.2894T>G (p.Val965Gly)
20g.51784407A>GCA315365901SALL4c.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
20g.51784407A>TCA409005844SALL4c.3020T>A (p.Val1007Asp)
c.689T>A (p.Val230Asp)
c.1709T>A (p.Val570Asp)
c.2714T>A (p.Val905Asp)
c.2894T>A (p.Val965Asp)
20g.51784408C>ACA409005845SALL4c.3019G>T (p.Val1007Phe)
c.688G>T (p.Val230Phe)
c.1708G>T (p.Val570Phe)
c.2713G>T (p.Val905Phe)
c.2893G>T (p.Val965Phe)
20g.51784408C=CA2369155258SALL4c.3019G= (p.Val1007=)
c.688G= (p.Val230=)
c.1708G= (p.Val570=)
c.2713G= (p.Val905=)
c.2893G= (p.Val965=)
20g.51784408C>GCA409005846SALL4c.3019G>C (p.Val1007Leu)
c.688G>C (p.Val230Leu)
c.1708G>C (p.Val570Leu)
c.2713G>C (p.Val905Leu)
c.2893G>C (p.Val965Leu)
20g.51784408C>TCA409005847SALL4c.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
20g.51784409G>ACA9911944SALL4c.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
20g.51784409G>CCA511025729SALL4c.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
20g.51784409G=CA2369155259SALL4c.3018C= (p.Ser1006=)
c.687C= (p.Ser229=)
c.1707C= (p.Ser569=)
c.2712C= (p.Ser904=)
c.2892C= (p.Ser964=)
20g.51784409G>TCA511025732SALL4c.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
20g.51784410G>ACA409005848SALL4c.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
20g.51784410G>CCA409005850SALL4c.3017C>G (p.Ser1006Cys)
c.686C>G (p.Ser229Cys)
c.1706C>G (p.Ser569Cys)
c.2711C>G (p.Ser904Cys)
c.2891C>G (p.Ser964Cys)
20g.51784410G>TCA409005849SALL4c.3017C>A (p.Ser1006Tyr)
c.686C>A (p.Ser229Tyr)
c.1706C>A (p.Ser569Tyr)
c.2711C>A (p.Ser904Tyr)
c.2891C>A (p.Ser964Tyr)
20g.51784411A=CA2369155260SALL4c.3016T= (p.Ser1006=)
c.685T= (p.Ser229=)
c.1705T= (p.Ser569=)
c.2710T= (p.Ser904=)
c.2890T= (p.Ser964=)
20g.51784411A>CCA409005851SALL4c.3016T>G (p.Ser1006Ala)
c.685T>G (p.Ser229Ala)
c.1705T>G (p.Ser569Ala)
c.2710T>G (p.Ser904Ala)
c.2890T>G (p.Ser964Ala)
20g.51784411A>GCA315365909SALL4c.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
20g.51784411A>TCA409005852SALL4c.3016T>A (p.Ser1006Thr)
c.685T>A (p.Ser229Thr)
c.1705T>A (p.Ser569Thr)
c.2710T>A (p.Ser904Thr)
c.2890T>A (p.Ser964Thr)
20g.51784412G>ACA511025734SALL4c.3015C>T (p.Thr1005=)
c.684C>T (p.Thr228=)
c.1704C>T (p.Thr568=)
c.2709C>T (p.Thr903=)
c.2889C>T (p.Thr963=)
20g.51784412G>CCA511025737SALL4c.3015C>G (p.Thr1005=)
c.684C>G (p.Thr228=)
c.1704C>G (p.Thr568=)
c.2709C>G (p.Thr903=)
c.2889C>G (p.Thr963=)
20g.51784412G>TCA511025739SALL4c.3015C>A (p.Thr1005=)
c.684C>A (p.Thr228=)
c.1704C>A (p.Thr568=)
c.2709C>A (p.Thr903=)
c.2889C>A (p.Thr963=)
20g.51784413G>ACA9911945SALL4c.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
20g.51784413G>CCA409005853SALL4c.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
20g.51784413G=CA2369155261SALL4c.3014C= (p.Thr1005=)
c.683C= (p.Thr228=)
c.1703C= (p.Thr568=)
c.2708C= (p.Thr903=)
c.2888C= (p.Thr963=)
20g.51784413G>TCA409005854SALL4c.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
20g.51784414T>ACA409005855SALL4c.3013A>T (p.Thr1005Ser)
c.682A>T (p.Thr228Ser)
c.1702A>T (p.Thr568Ser)
c.2707A>T (p.Thr903Ser)
c.2887A>T (p.Thr963Ser)
20g.51784414T>CCA9911946SALL4c.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
20g.51784414T>GCA409005856SALL4c.3013A>C (p.Thr1005Pro)
c.682A>C (p.Thr228Pro)
c.1702A>C (p.Thr568Pro)
c.2707A>C (p.Thr903Pro)
c.2887A>C (p.Thr963Pro)
20g.51784414T=CA2369155262SALL4c.3013A= (p.Thr1005=)
c.682A= (p.Thr228=)
c.1702A= (p.Thr568=)
c.2707A= (p.Thr903=)
c.2887A= (p.Thr963=)
20g.51784415G>ACA9911947SALL4c.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
20g.51784415G>CCA511025744SALL4c.3012C>G (p.Ala1004=)
c.681C>G (p.Ala227=)
c.1701C>G (p.Ala567=)
c.2706C>G (p.Ala902=)
c.2886C>G (p.Ala962=)
20g.51784415G=CA2369155264SALL4c.3012C= (p.Ala1004=)
c.681C= (p.Ala227=)
c.1701C= (p.Ala567=)
c.2706C= (p.Ala902=)
c.2886C= (p.Ala962=)
20g.51784415G>TCA511025746SALL4c.3012C>A (p.Ala1004=)
c.681C>A (p.Ala227=)
c.1701C>A (p.Ala567=)
c.2706C>A (p.Ala902=)
c.2886C>A (p.Ala962=)
20g.51784415_51784441dupCA2369155263SALL4c.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
20g.51784416G>ACA315365945SALL4c.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
20g.51784416G>CCA409005857SALL4c.3011C>G (p.Ala1004Gly)
c.680C>G (p.Ala227Gly)
c.1700C>G (p.Ala567Gly)
c.2705C>G (p.Ala902Gly)
c.2885C>G (p.Ala962Gly)
20g.51784416G=CA2369155266SALL4c.3011C= (p.Ala1004=)
c.680C= (p.Ala227=)
c.1700C= (p.Ala567=)
c.2705C= (p.Ala902=)
c.2885C= (p.Ala962=)
20g.51784416G>TCA409005858SALL4c.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
20g.51784416_51784417delinsGCCA2369155265SALL4c.3010_3011delinsGC (p.Ala1004=)
c.679_680delinsGC (p.Ala227=)
c.1699_1700delinsGC (p.Ala567=)
c.2704_2705delinsGC (p.Ala902=)
c.2884_2885delinsGC (p.Ala962=)
20g.51784417C>ACA409005861SALL4c.3010G>T (p.Ala1004Ser)
c.679G>T (p.Ala227Ser)
c.1699G>T (p.Ala567Ser)
c.2704G>T (p.Ala902Ser)
c.2884G>T (p.Ala962Ser)
20g.51784417C>GCA409005860SALL4c.3010G>C (p.Ala1004Pro)
c.679G>C (p.Ala227Pro)
c.1699G>C (p.Ala567Pro)
c.2704G>C (p.Ala902Pro)
c.2884G>C (p.Ala962Pro)
20g.51784417C>TCA409005859SALL4c.3010G>A (p.Ala1004Thr)
c.679G>A (p.Ala227Thr)
c.1699G>A (p.Ala567Thr)
c.2704G>A (p.Ala902Thr)
c.2884G>A (p.Ala962Thr)
20g.51784421delCA9911948SALL4c.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
20g.51784418C>ACA511025748SALL4c.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
20g.51784418C>GCA511025751SALL4c.3009G>C (p.Gly1003=)
c.678G>C (p.Gly226=)
c.1698G>C (p.Gly566=)
c.2703G>C (p.Gly901=)
c.2883G>C (p.Gly961=)
20g.51784418C>TCA511025754SALL4c.3009G>A (p.Gly1003=)
c.678G>A (p.Gly226=)
c.1698G>A (p.Gly566=)
c.2703G>A (p.Gly901=)
c.2883G>A (p.Gly961=)
20g.51784419C>ACA409005862SALL4c.3008G>T (p.Gly1003Val)
c.677G>T (p.Gly226Val)
c.1697G>T (p.Gly566Val)
c.2702G>T (p.Gly901Val)
c.2882G>T (p.Gly961Val)
20g.51784419C>GCA409005863SALL4c.3008G>C (p.Gly1003Ala)
c.677G>C (p.Gly226Ala)
c.1697G>C (p.Gly566Ala)
c.2702G>C (p.Gly901Ala)
c.2882G>C (p.Gly961Ala)
20g.51784419C>TCA409005864SALL4c.3008G>A (p.Gly1003Glu)
c.677G>A (p.Gly226Glu)
c.1697G>A (p.Gly566Glu)
c.2702G>A (p.Gly901Glu)
c.2882G>A (p.Gly961Glu)
20g.51784420C>ACA409005865SALL4c.3007G>T (p.Gly1003Trp)
c.676G>T (p.Gly226Trp)
c.1696G>T (p.Gly566Trp)
c.2701G>T (p.Gly901Trp)
c.2881G>T (p.Gly961Trp)
20g.51784420C>GCA409005866SALL4c.3007G>C (p.Gly1003Arg)
c.676G>C (p.Gly226Arg)
c.1696G>C (p.Gly566Arg)
c.2701G>C (p.Gly901Arg)
c.2881G>C (p.Gly961Arg)
20g.51784420C>TCA409005867SALL4c.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
20g.51784421C>ACA409005868SALL4c.3006G>T (p.Leu1002Phe)
c.675G>T (p.Leu225Phe)
c.1695G>T (p.Leu565Phe)
c.2700G>T (p.Leu900Phe)
c.2880G>T (p.Leu960Phe)
20g.51784421C>GCA409005869SALL4c.3006G>C (p.Leu1002Phe)
c.675G>C (p.Leu225Phe)
c.1695G>C (p.Leu565Phe)
c.2700G>C (p.Leu900Phe)
c.2880G>C (p.Leu960Phe)
20g.51784421C>TCA511025756SALL4c.3006G>A (p.Leu1002=)
c.675G>A (p.Leu225=)
c.1695G>A (p.Leu565=)
c.2700G>A (p.Leu900=)
c.2880G>A (p.Leu960=)
20g.51784422A>CCA409005870SALL4c.3005T>G (p.Leu1002Trp)
c.674T>G (p.Leu225Trp)
c.1694T>G (p.Leu565Trp)
c.2699T>G (p.Leu900Trp)
c.2879T>G (p.Leu960Trp)
20g.51784422A>GCA409005871SALL4c.3005T>C (p.Leu1002Ser)
c.674T>C (p.Leu225Ser)
c.1694T>C (p.Leu565Ser)
c.2699T>C (p.Leu900Ser)
c.2879T>C (p.Leu960Ser)
20g.51784422A>TCA409005872SALL4c.3005T>A (p.Leu1002Ter)
c.674T>A (p.Leu225Ter)
c.1694T>A (p.Leu565Ter)
c.2699T>A (p.Leu900Ter)
c.2879T>A (p.Leu960Ter)
20g.51784423A=CA2369155267SALL4c.3004T= (p.Leu1002=)
c.673T= (p.Leu225=)
c.1693T= (p.Leu565=)
c.2698T= (p.Leu900=)
c.2878T= (p.Leu960=)
20g.51784423A>CCA409005873SALL4c.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
20g.51784423A>GCA511025761SALL4c.3004T>C (p.Leu1002=)
c.673T>C (p.Leu225=)
c.1693T>C (p.Leu565=)
c.2698T>C (p.Leu900=)
c.2878T>C (p.Leu960=)
20g.51784423A>TCA9911949SALL4c.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
20g.51784424G>ACA511025763SALL4c.3003C>T (p.Ser1001=)
c.672C>T (p.Ser224=)
c.1692C>T (p.Ser564=)
c.2697C>T (p.Ser899=)
c.2877C>T (p.Ser959=)
20g.51784424G>CCA511025764SALL4c.3003C>G (p.Ser1001=)
c.672C>G (p.Ser224=)
c.1692C>G (p.Ser564=)
c.2697C>G (p.Ser899=)
c.2877C>G (p.Ser959=)
20g.51784424G>TCA511025766SALL4c.3003C>A (p.Ser1001=)
c.672C>A (p.Ser224=)
c.1692C>A (p.Ser564=)
c.2697C>A (p.Ser899=)
c.2877C>A (p.Ser959=)
20g.51784425G>ACA409005874SALL4c.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
20g.51784425G>CCA409005875SALL4c.3002C>G (p.Ser1001Cys)
c.671C>G (p.Ser224Cys)
c.1691C>G (p.Ser564Cys)
c.2696C>G (p.Ser899Cys)
c.2876C>G (p.Ser959Cys)
20g.51784425G>TCA409005876SALL4c.3002C>A (p.Ser1001Tyr)
c.671C>A (p.Ser224Tyr)
c.1691C>A (p.Ser564Tyr)
c.2696C>A (p.Ser899Tyr)
c.2876C>A (p.Ser959Tyr)
20g.51784426A>CCA409005877SALL4c.3001T>G (p.Ser1001Ala)
c.670T>G (p.Ser224Ala)
c.1690T>G (p.Ser564Ala)
c.2695T>G (p.Ser899Ala)
c.2875T>G (p.Ser959Ala)
20g.51784426A>GCA409005878SALL4c.3001T>C (p.Ser1001Pro)
c.670T>C (p.Ser224Pro)
c.1690T>C (p.Ser564Pro)
c.2695T>C (p.Ser899Pro)
c.2875T>C (p.Ser959Pro)
20g.51784426A>TCA409005879SALL4c.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
20g.51784427A=CA2369155268SALL4c.3000T= (p.Val1000=)
c.669T= (p.Val223=)
c.1689T= (p.Val563=)
c.2694T= (p.Val898=)
c.2874T= (p.Val958=)
20g.51784427A>CCA511025770SALL4c.3000T>G (p.Val1000=)
c.669T>G (p.Val223=)
c.1689T>G (p.Val563=)
c.2694T>G (p.Val898=)
c.2874T>G (p.Val958=)
20g.51784427A>GCA511025772SALL4c.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
20g.51784427A>TCA511025771SALL4c.3000T>A (p.Val1000=)
c.669T>A (p.Val223=)
c.1689T>A (p.Val563=)
c.2694T>A (p.Val898=)
c.2874T>A (p.Val958=)
20g.51784428A=CA2369155269SALL4c.2999T= (p.Val1000=)
c.668T= (p.Val223=)
c.1688T= (p.Val563=)
c.2693T= (p.Val898=)
c.2873T= (p.Val958=)
20g.51784428A>CCA9911950SALL4c.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
20g.51784428A>GCA409005880SALL4c.2999T>C (p.Val1000Ala)
c.668T>C (p.Val223Ala)
c.1688T>C (p.Val563Ala)
c.2693T>C (p.Val898Ala)
c.2873T>C (p.Val958Ala)
20g.51784428A>TCA409005881SALL4c.2999T>A (p.Val1000Asp)
c.668T>A (p.Val223Asp)
c.1688T>A (p.Val563Asp)
c.2693T>A (p.Val898Asp)
c.2873T>A (p.Val958Asp)
20g.51784429C>ACA409005882SALL4c.2998G>T (p.Val1000Phe)
c.667G>T (p.Val223Phe)
c.1687G>T (p.Val563Phe)
c.2692G>T (p.Val898Phe)
c.2872G>T (p.Val958Phe)
20g.51784429C>GCA409005883SALL4c.2998G>C (p.Val1000Leu)
c.667G>C (p.Val223Leu)
c.1687G>C (p.Val563Leu)
c.2692G>C (p.Val898Leu)
c.2872G>C (p.Val958Leu)
20g.51784429C>TCA409005884SALL4c.2998G>A (p.Val1000Ile)
c.667G>A (p.Val223Ile)
c.1687G>A (p.Val563Ile)
c.2692G>A (p.Val898Ile)
c.2872G>A (p.Val958Ile)
20g.51784430delCA2816661506SALL4c.2998del (p.Val1000PhefsTer9)
c.667del (p.Val223PhefsTer9)
c.1687del (p.Val563PhefsTer9)
c.2692del (p.Val898PhefsTer9)
c.2872del (p.Val958PhefsTer9)
20g.51784430C>ACA511025775SALL4c.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
20g.51784430C=CA2369155270SALL4c.2997G= (p.Pro999=)
c.666G= (p.Pro222=)
c.1686G= (p.Pro562=)
c.2691G= (p.Pro897=)
c.2871G= (p.Pro957=)
20g.51784430C>GCA511025776SALL4c.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
20g.51784430C>TCA9911951SALL4c.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
20g.51784431G>ACA409005886SALL4c.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
20g.51784431G>CCA9911952SALL4c.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
20g.51784431G=CA2369155271SALL4c.2996C= (p.Pro999=)
c.665C= (p.Pro222=)
c.1685C= (p.Pro562=)
c.2690C= (p.Pro897=)
c.2870C= (p.Pro957=)
20g.51784431G>TCA409005885SALL4c.2996C>A (p.Pro999Gln)
c.665C>A (p.Pro222Gln)
c.1685C>A (p.Pro562Gln)
c.2690C>A (p.Pro897Gln)
c.2870C>A (p.Pro957Gln)
20g.51784432G>ACA409005887SALL4c.2995C>T (p.Pro999Ser)
c.664C>T (p.Pro222Ser)
c.1684C>T (p.Pro562Ser)
c.2689C>T (p.Pro897Ser)
c.2869C>T (p.Pro957Ser)
20g.51784432G>CCA409005888SALL4c.2995C>G (p.Pro999Ala)
c.664C>G (p.Pro222Ala)
c.1684C>G (p.Pro562Ala)
c.2689C>G (p.Pro897Ala)
c.2869C>G (p.Pro957Ala)
20g.51784432G>TCA409005889SALL4c.2995C>A (p.Pro999Thr)
c.664C>A (p.Pro222Thr)
c.1684C>A (p.Pro562Thr)
c.2689C>A (p.Pro897Thr)
c.2869C>A (p.Pro957Thr)
20g.51784433G>ACA511025779SALL4c.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
20g.51784433G>CCA511025780SALL4c.2994C>G (p.Leu998=)
c.663C>G (p.Leu221=)
c.1683C>G (p.Leu561=)
c.2688C>G (p.Leu896=)
c.2868C>G (p.Leu956=)
20g.51784433G>TCA511025781SALL4c.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
20g.51784434A>CCA409005890SALL4c.2993T>G (p.Leu998Arg)
c.662T>G (p.Leu221Arg)
c.1682T>G (p.Leu561Arg)
c.2687T>G (p.Leu896Arg)
c.2867T>G (p.Leu956Arg)
20g.51784434A>GCA409005891SALL4c.2993T>C (p.Leu998Pro)
c.662T>C (p.Leu221Pro)
c.1682T>C (p.Leu561Pro)
c.2687T>C (p.Leu896Pro)
c.2867T>C (p.Leu956Pro)
20g.51784434A>TCA409005892SALL4c.2993T>A (p.Leu998His)
c.662T>A (p.Leu221His)
c.1682T>A (p.Leu561His)
c.2687T>A (p.Leu896His)
c.2867T>A (p.Leu956His)
20g.51784435G>ACA409005893SALL4c.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
20g.51784435G>CCA409005894SALL4c.2992C>G (p.Leu998Val)
c.661C>G (p.Leu221Val)
c.1681C>G (p.Leu561Val)
c.2686C>G (p.Leu896Val)
c.2866C>G (p.Leu956Val)
20g.51784435G=CA2369155272SALL4c.2992C= (p.Leu998=)
c.661C= (p.Leu221=)
c.1681C= (p.Leu561=)
c.2686C= (p.Leu896=)
c.2866C= (p.Leu956=)
20g.51784435G>TCA409005895SALL4c.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
20g.51784437delCA2577428505SALL4c.2992del (p.Leu998SerfsTer11)
c.661del (p.Leu221SerfsTer11)
c.1681del (p.Leu561SerfsTer11)
c.2686del (p.Leu896SerfsTer11)
c.2866del (p.Leu956SerfsTer11)
 gnomAD v4
20g.51784436G>ACA511025789SALL4c.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
20g.51784436G>CCA511025790SALL4c.2991C>G (p.Thr997=)
c.660C>G (p.Thr220=)
c.1680C>G (p.Thr560=)
c.2685C>G (p.Thr895=)
c.2865C>G (p.Thr955=)
20g.51784436G=CA2369155273SALL4c.2991C= (p.Thr997=)
c.660C= (p.Thr220=)
c.1680C= (p.Thr560=)
c.2685C= (p.Thr895=)
c.2865C= (p.Thr955=)
20g.51784436G>TCA511025786SALL4c.2991C>A (p.Thr997=)
c.660C>A (p.Thr220=)
c.1680C>A (p.Thr560=)
c.2685C>A (p.Thr895=)
c.2865C>A (p.Thr955=)
20g.51784437G>ACA409005896SALL4c.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
20g.51784437G>CCA409005897SALL4c.2990C>G (p.Thr997Ser)
c.659C>G (p.Thr220Ser)
c.1679C>G (p.Thr560Ser)
c.2684C>G (p.Thr895Ser)
c.2864C>G (p.Thr955Ser)
20g.51784437G=CA2369155274SALL4c.2990C= (p.Thr997=)
c.659C= (p.Thr220=)
c.1679C= (p.Thr560=)
c.2684C= (p.Thr895=)
c.2864C= (p.Thr955=)
20g.51784437G>TCA409005898SALL4c.2990C>A (p.Thr997Asn)
c.659C>A (p.Thr220Asn)
c.1679C>A (p.Thr560Asn)
c.2684C>A (p.Thr895Asn)
c.2864C>A (p.Thr955Asn)
20g.51784438T>ACA409005900SALL4c.2989A>T (p.Thr997Ser)
c.658A>T (p.Thr220Ser)
c.1678A>T (p.Thr560Ser)
c.2683A>T (p.Thr895Ser)
c.2863A>T (p.Thr955Ser)
20g.51784438T>CCA409005901SALL4c.2989A>G (p.Thr997Ala)
c.658A>G (p.Thr220Ala)
c.1678A>G (p.Thr560Ala)
c.2683A>G (p.Thr895Ala)
c.2863A>G (p.Thr955Ala)
20g.51784438T>GCA409005899SALL4c.2989A>C (p.Thr997Pro)
c.658A>C (p.Thr220Pro)
c.1678A>C (p.Thr560Pro)
c.2683A>C (p.Thr895Pro)
c.2863A>C (p.Thr955Pro)
20g.51784439A>CCA511025791SALL4c.2988T>G (p.Pro996=)
c.657T>G (p.Pro219=)
c.1677T>G (p.Pro559=)
c.2682T>G (p.Pro894=)
c.2862T>G (p.Pro954=)
20g.51784439A>GCA511025792SALL4c.2988T>C (p.Pro996=)
c.657T>C (p.Pro219=)
c.1677T>C (p.Pro559=)
c.2682T>C (p.Pro894=)
c.2862T>C (p.Pro954=)
20g.51784439A>TCA511025793SALL4c.2988T>A (p.Pro996=)
c.657T>A (p.Pro219=)
c.1677T>A (p.Pro559=)
c.2682T>A (p.Pro894=)
c.2862T>A (p.Pro954=)
20g.51784440G>ACA409005904SALL4c.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
20g.51784440G>CCA409005902SALL4c.2987C>G (p.Pro996Arg)
c.656C>G (p.Pro219Arg)
c.1676C>G (p.Pro559Arg)
c.2681C>G (p.Pro894Arg)
c.2861C>G (p.Pro954Arg)
20g.51784440G=CA2369155275SALL4c.2987C= (p.Pro996=)
c.656C= (p.Pro219=)
c.1676C= (p.Pro559=)
c.2681C= (p.Pro894=)
c.2861C= (p.Pro954=)
20g.51784440G>TCA409005903SALL4c.2987C>A (p.Pro996His)
c.656C>A (p.Pro219His)
c.1676C>A (p.Pro559His)
c.2681C>A (p.Pro894His)
c.2861C>A (p.Pro954His)
20g.51784441G>ACA409005905SALL4c.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
20g.51784441G>CCA409005906SALL4c.2986C>G (p.Pro996Ala)
c.655C>G (p.Pro219Ala)
c.1675C>G (p.Pro559Ala)
c.2680C>G (p.Pro894Ala)
c.2860C>G (p.Pro954Ala)
20g.51784441G=CA2369155276SALL4c.2986C= (p.Pro996=)
c.655C= (p.Pro219=)
c.1675C= (p.Pro559=)
c.2680C= (p.Pro894=)
c.2860C= (p.Pro954=)
20g.51784441G>TCA409005907SALL4c.2986C>A (p.Pro996Thr)
c.655C>A (p.Pro219Thr)
c.1675C>A (p.Pro559Thr)
c.2680C>A (p.Pro894Thr)
c.2860C>A (p.Pro954Thr)
20g.51784441_51784442insTCA645610834SALL4c.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
20g.51784442A>CCA511025797SALL4c.2985T>G (p.Val995=)
c.654T>G (p.Val218=)
c.1674T>G (p.Val558=)
c.2679T>G (p.Val893=)
c.2859T>G (p.Val953=)
20g.51784442A>GCA511025798SALL4c.2985T>C (p.Val995=)
c.654T>C (p.Val218=)
c.1674T>C (p.Val558=)
c.2679T>C (p.Val893=)
c.2859T>C (p.Val953=)
20g.51784442A>TCA511025799SALL4c.2985T>A (p.Val995=)
c.654T>A (p.Val218=)
c.1674T>A (p.Val558=)
c.2679T>A (p.Val893=)
c.2859T>A (p.Val953=)
20g.51784443dupCA511025800SALL4c.2985dup (p.Pro996SerfsTer15)
c.654dup (p.Pro219SerfsTer15)
c.1674dup (p.Pro559SerfsTer15)
c.2679dup (p.Pro894SerfsTer15)
c.2859dup (p.Pro954SerfsTer15)
20g.51784443A=CA2369155278SALL4c.2984T= (p.Val995=)
c.653T= (p.Val218=)
c.1673T= (p.Val558=)
c.2678T= (p.Val893=)
c.2858T= (p.Val953=)
20g.51784443A>CCA409005910SALL4c.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
20g.51784443A>GCA409005909SALL4c.2984T>C (p.Val995Ala)
c.653T>C (p.Val218Ala)
c.1673T>C (p.Val558Ala)
c.2678T>C (p.Val893Ala)
c.2858T>C (p.Val953Ala)
20g.51784443A>TCA409005908SALL4c.2984T>A (p.Val995Asp)
c.653T>A (p.Val218Asp)
c.1673T>A (p.Val558Asp)
c.2678T>A (p.Val893Asp)
c.2858T>A (p.Val953Asp)
20g.51784443_51784444delinsACCA2369155277SALL4c.2983_2984delinsGT (p.Val995=)
c.652_653delinsGT (p.Val218=)
c.1672_1673delinsGT (p.Val558=)
c.2677_2678delinsGT (p.Val893=)
c.2857_2858delinsGT (p.Val953=)
20g.51784444C>ACA409005911SALL4c.2983G>T (p.Val995Phe)
c.652G>T (p.Val218Phe)
c.1672G>T (p.Val558Phe)
c.2677G>T (p.Val893Phe)
c.2857G>T (p.Val953Phe)
20g.51784444C=CA2369155279SALL4c.2983G= (p.Val995=)
c.652G= (p.Val218=)
c.1672G= (p.Val558=)
c.2677G= (p.Val893=)
c.2857G= (p.Val953=)
20g.51784444C>GCA409005912SALL4c.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
20g.51784444C>TCA409005913SALL4c.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
20g.51784450dupCA9911953SALL4c.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
20g.51784449_51784450dupCA2816661507SALL4c.2982_2983dup (p.Val995GlyfsTer15)
c.651_652dup (p.Val218GlyfsTer15)
c.1671_1672dup (p.Val558GlyfsTer15)
c.2676_2677dup (p.Val893GlyfsTer15)
c.2856_2857dup (p.Val953GlyfsTer15)
20g.51784450delCA9911954SALL4c.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
20g.51784445C>ACA9911955SALL4c.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
20g.51784445C=CA2369155280SALL4c.2982G= (p.Gly994=)
c.651G= (p.Gly217=)
c.1671G= (p.Gly557=)
c.2676G= (p.Gly892=)
c.2856G= (p.Gly952=)
20g.51784445C>GCA511025804SALL4c.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
20g.51784445C>TCA511025803SALL4c.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
20g.51784446C>ACA409005916SALL4c.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
20g.51784446C>GCA409005914SALL4c.2981G>C (p.Gly994Ala)
c.650G>C (p.Gly217Ala)
c.1670G>C (p.Gly557Ala)
c.2675G>C (p.Gly892Ala)
c.2855G>C (p.Gly952Ala)
20g.51784446C>TCA409005915SALL4c.2981G>A (p.Gly994Glu)
c.650G>A (p.Gly217Glu)
c.1670G>A (p.Gly557Glu)
c.2675G>A (p.Gly892Glu)
c.2855G>A (p.Gly952Glu)
20g.51784447C>ACA409005917SALL4c.2980G>T (p.Gly994Trp)
c.649G>T (p.Gly217Trp)
c.1669G>T (p.Gly557Trp)
c.2674G>T (p.Gly892Trp)
c.2854G>T (p.Gly952Trp)
20g.51784447C=CA2369155281SALL4c.2980G= (p.Gly994=)
c.649G= (p.Gly217=)
c.1669G= (p.Gly557=)
c.2674G= (p.Gly892=)
c.2854G= (p.Gly952=)
20g.51784447C>GCA409005918SALL4c.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
20g.51784447C>TCA409005919SALL4c.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
20g.51784448C>ACA9911956SALL4c.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
20g.51784448C=CA2369155282SALL4c.2979G= (p.Gly993=)
c.648G= (p.Gly216=)
c.1668G= (p.Gly556=)
c.2673G= (p.Gly891=)
c.2853G= (p.Gly951=)
20g.51784448C>GCA511025807SALL4c.2979G>C (p.Gly993=)
c.648G>C (p.Gly216=)
c.1668G>C (p.Gly556=)
c.2673G>C (p.Gly891=)
c.2853G>C (p.Gly951=)
20g.51784448C>TCA511025808SALL4c.2979G>A (p.Gly993=)
c.648G>A (p.Gly216=)
c.1668G>A (p.Gly556=)
c.2673G>A (p.Gly891=)
c.2853G>A (p.Gly951=)
20g.51784449C>ACA409005920SALL4c.2978G>T (p.Gly993Val)
c.647G>T (p.Gly216Val)
c.1667G>T (p.Gly556Val)
c.2672G>T (p.Gly891Val)
c.2852G>T (p.Gly951Val)
20g.51784449C=CA2369155283SALL4c.2978G= (p.Gly993=)
c.647G= (p.Gly216=)
c.1667G= (p.Gly556=)
c.2672G= (p.Gly891=)
c.2852G= (p.Gly951=)
20g.51784449C>GCA409005921SALL4c.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
20g.51784449C>TCA409005922SALL4c.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
20g.51784450C>ACA9911957SALL4c.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
20g.51784450C=CA2369155284SALL4c.2977G= (p.Gly993=)
c.646G= (p.Gly216=)
c.1666G= (p.Gly556=)
c.2671G= (p.Gly891=)
c.2851G= (p.Gly951=)
20g.51784450C>GCA9911958SALL4c.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
20g.51784450C>TCA245393SALL4c.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
20g.51784451A=CA2369155285SALL4c.2976T= (p.Ser992=)
c.645T= (p.Ser215=)
c.1665T= (p.Ser555=)
c.2670T= (p.Ser890=)
c.2850T= (p.Ser950=)
20g.51784451A>CCA409005923SALL4c.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
20g.51784451A>GCA511025812SALL4c.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
20g.51784451A>TCA409005924SALL4c.2976T>A (p.Ser992Arg)
c.645T>A (p.Ser215Arg)
c.1665T>A (p.Ser555Arg)
c.2670T>A (p.Ser890Arg)
c.2850T>A (p.Ser950Arg)
20g.51784452C>ACA409005925SALL4c.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
20g.51784452C>GCA409005927SALL4c.2975G>C (p.Ser992Thr)
c.644G>C (p.Ser215Thr)
c.1664G>C (p.Ser555Thr)
c.2669G>C (p.Ser890Thr)
c.2849G>C (p.Ser950Thr)
20g.51784452C>TCA409005926SALL4c.2975G>A (p.Ser992Asn)
c.644G>A (p.Ser215Asn)
c.1664G>A (p.Ser555Asn)
c.2669G>A (p.Ser890Asn)
c.2849G>A (p.Ser950Asn)
20g.51784453T>ACA409005928SALL4c.2974A>T (p.Ser992Cys)
c.643A>T (p.Ser215Cys)
c.1663A>T (p.Ser555Cys)
c.2668A>T (p.Ser890Cys)
c.2848A>T (p.Ser950Cys)
20g.51784453T>CCA9911959SALL4c.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
20g.51784453T>GCA409005929SALL4c.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
20g.51784453T=CA2369155286SALL4c.2974A= (p.Ser992=)
c.643A= (p.Ser215=)
c.1663A= (p.Ser555=)
c.2668A= (p.Ser890=)
c.2848A= (p.Ser950=)
20g.51784454C>ACA409005930SALL4c.2973G>T (p.Gln991His)
c.642G>T (p.Gln214His)
c.1662G>T (p.Gln554His)
c.2667G>T (p.Gln889His)
c.2847G>T (p.Gln949His)
20g.51784454C=CA2369155287SALL4c.2973G= (p.Gln991=)
c.642G= (p.Gln214=)
c.1662G= (p.Gln554=)
c.2667G= (p.Gln889=)
c.2847G= (p.Gln949=)
20g.51784454C>GCA409005931SALL4c.2973G>C (p.Gln991His)
c.642G>C (p.Gln214His)
c.1662G>C (p.Gln554His)
c.2667G>C (p.Gln889His)
c.2847G>C (p.Gln949His)
20g.51784454C>TCA511025817SALL4c.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
20g.51784455T>ACA409005932SALL4c.2972A>T (p.Gln991Leu)
c.641A>T (p.Gln214Leu)
c.1661A>T (p.Gln554Leu)
c.2666A>T (p.Gln889Leu)
c.2846A>T (p.Gln949Leu)
20g.51784455T>CCA409005933SALL4c.2972A>G (p.Gln991Arg)
c.641A>G (p.Gln214Arg)
c.1661A>G (p.Gln554Arg)
c.2666A>G (p.Gln889Arg)
c.2846A>G (p.Gln949Arg)
20g.51784455T>GCA409005934SALL4c.2972A>C (p.Gln991Pro)
c.641A>C (p.Gln214Pro)
c.1661A>C (p.Gln554Pro)
c.2666A>C (p.Gln889Pro)
c.2846A>C (p.Gln949Pro)

Number of alleles fetched