Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
20	g.51784187_51784189del	CA745389521	SALL4	c.81_83del (n.81_83del)	dbSNP gnomAD v4
20	g.51784187G=	CA2369155151	SALL4	c.78C= (n.78C=)
20	g.51784187G>T	CA1018374562	SALL4	c.78C>A (n.78C>A)	dbSNP gnomAD v3 gnomAD v4
20	g.51784189_51784190dup	CA745389531	SALL4	c.77_78dup (n.77_78dup)	dbSNP gnomAD v3 gnomAD v4
20	g.51784188A>C	CA2577428481	SALL4	c.77T>G (n.77T>G)
20	g.51784189G>A	CA745389535	SALL4	c.76C>T (n.76C>T)	dbSNP gnomAD v4
20	g.51784189G=	CA2369155152	SALL4	c.76C= (n.76C=)
20	g.51784189G>T	CA2577428482	SALL4	c.76C>A (n.76C>A)	gnomAD v4
20	g.51784190A=	CA2369155153	SALL4	c.75T= (n.75T=)
20	g.51784190A>G	CA1018374566	SALL4	c.75T>C (n.75T>C)	dbSNP gnomAD v3 gnomAD v4
20	g.51784191T>A	CA2816661504	SALL4	c.74A>T (n.74A>T)
20	g.51784191T>C	CA2577428483	SALL4	c.74A>G (n.74A>G)	gnomAD v4
20	g.51784191T>G	CA2577428484	SALL4	c.74A>C (n.74A>C)
20	g.51784192G>A	CA2653358725	SALL4	c.73C>T (n.73C>T)	gnomAD v4
20	g.51784192G>T	CA2653358726	SALL4	c.73C>A (n.73C>A)	gnomAD v4
20	g.51784194G>A	CA1018374567	SALL4	c.71C>T (n.71C>T)	dbSNP gnomAD v3 gnomAD v4
20	g.51784194G=	CA2369155154	SALL4	c.71C= (n.71C=)
20	g.51784194G>T	CA2653358727	SALL4	c.71C>A (n.71C>A)	gnomAD v4
20	g.51784195T>G	CA2369155156	SALL4	c.70A>C (n.70A>C)	dbSNP
20	g.51784195T=	CA2369155155	SALL4	c.70A= (n.70A=)
20	g.51784198T>C	CA2653358728	SALL4	c.67A>G (n.67A>G)	gnomAD v4
20	g.51784201C>A	CA2653358729	SALL4	c.64G>T (n.64G>T)	gnomAD v4
20	g.51784202A>G	CA2653358730	SALL4	c.63T>C (n.63T>C)	gnomAD v4
20	g.51784205A>G	CA2653358731	SALL4	c.60T>C (n.60T>C)	gnomAD v4
20	g.51784207A>C	CA2653358732	SALL4	c.58T>G (n.58T>G)	gnomAD v4
20	g.51784210G>A	CA2577428485	SALL4	c.55C>T (n.55C>T)
20	g.51784210G>T	CA2577428486	SALL4	c.55C>A (n.55C>A)
20	g.51784213G>A	CA745389537	SALL4	c.52C>T (n.52C>T)	dbSNP
20	g.51784213G=	CA2369155157	SALL4	c.52C= (n.52C=)
20	g.51784213G>T	CA2653358733	SALL4	c.52C>A (n.52C>A)	gnomAD v4
20	g.51784216T>C	CA2653358734	SALL4	c.49A>G (n.49A>G)	gnomAD v4
20	g.51784217C=	CA2369155158	SALL4	c.48G= (n.48G=)
20	g.51784217C>G	CA9911901	SALL4	c.48G>C (n.48G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.51784218_51784222delinsTAGAG	CA2369155159	SALL4	c.43_47delinsCTCTA (n.43_47delinsCTCTA)
20	g.51784219A=	CA2369155160	SALL4	c.46T= (n.46T=)
20	g.51784219A>C	CA2577428487	SALL4	c.46T>G (n.46T>G)	gnomAD v4
20	g.51784219A>G	CA635792192	SALL4	c.46T>C (n.46T>C)	dbSNP gnomAD v2 gnomAD v4
20	g.51784219A>T	CA2577428488	SALL4	c.46T>A (n.46T>A)
20	g.51784220_51784223del	CA745389541	SALL4	c.43_46del (n.43_46del)	dbSNP gnomAD v4
20	g.51784220G>C	CA2653358735	SALL4	c.45C>G (n.45C>G)	gnomAD v4
20	g.51784220G=	CA2369155161	SALL4	c.45C= (n.45C=)
20	g.51784220G>T	CA635792193	SALL4	c.45C>A (n.45C>A)	dbSNP gnomAD v2 gnomAD v4
20	g.51784221A>C	CA2577428489	SALL4	c.44T>G (n.44T>G)
20	g.51784221A>T	CA2653358736	SALL4	c.44T>A (n.44T>A)	gnomAD v4
20	g.51784222G>C	CA2653358737	SALL4	c.43C>G (n.43C>G)	gnomAD v4
20	g.51784222G=	CA2369155162	SALL4	c.43C= (n.43C=)
20	g.51784222G>T	CA635792194	SALL4	c.43C>A (n.43C>A)	dbSNP gnomAD v2 gnomAD v4
20	g.51784223A>G	CA2653358738	SALL4	c.42T>C (n.42T>C)	gnomAD v4
20	g.51784224T>C	CA9911902	SALL4	c.41A>G (n.41A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.51784224T=	CA2369155163	SALL4	c.41A= (n.41A=)
20	g.51784229C=	CA2369155164	SALL4	c.36G= (n.36G=)
20	g.51784229C>G	CA2653358739	SALL4	c.36G>C (n.36G>C)	gnomAD v4
20	g.51784229C>T	CA636172350	SALL4	c.36G>A (n.36G>A)	dbSNP gnomAD v2 gnomAD v4
20	g.51784229_51784231delinsCTG	CA2369155165	SALL4	c.34_36delinsCAG (n.34_36delinsCAG)
20	g.51784230T>C	CA9911903	SALL4	c.35A>G (n.35A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.51784230T=	CA2369155166	SALL4	c.35A= (n.35A=)
20	g.51784233_51784234del	CA636172351	SALL4	c.34_35del (n.34_35del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.51784232T>C	CA9911904	SALL4	c.33A>G (n.33A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20	g.51784232T=	CA2369155167	SALL4	c.33A= (n.33A=)
20	g.51784233G>T	CA2653358740	SALL4	c.32C>A (n.32C>A)	gnomAD v4
20	g.51784234T>C	CA636172352	SALL4	c.31A>G (n.31A>G)	dbSNP gnomAD v2 gnomAD v4
20	g.51784234T=	CA2369155168	SALL4	c.31A= (n.31A=)
20	g.51784235C=	CA2369155169	SALL4	c.30G= (n.30G=)
20	g.51784235C>G	CA636172353	SALL4	c.30G>C (n.30G>C)	dbSNP gnomAD v2 gnomAD v4
20	g.51784235C>T	CA636172354	SALL4	c.30G>A (n.30G>A)	dbSNP gnomAD v2 gnomAD v4
20	g.51784236T>C	CA636172355	SALL4	c.29A>G (n.29A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.51784236T=	CA2369155170	SALL4	c.29A= (n.29A=)
20	g.51784237G>A	CA2653358741	SALL4	c.28C>T (n.28C>T)	gnomAD v4
20	g.51784237G>C	CA2653358742	SALL4	c.28C>G (n.28C>G)	gnomAD v4
20	g.51784239A>C	CA2577428490	SALL4	c.26T>G (n.26T>G)
20	g.51784240T>C	CA2653358743	SALL4	c.25A>G (n.25A>G)	gnomAD v4
20	g.51784241T>C	CA2369155172	SALL4	c.24A>G (n.24A>G)	dbSNP
20	g.51784241T=	CA2369155171	SALL4	c.24A= (n.24A=)
20	g.51784242G>A	CA2369155174	SALL4	c.23C>T (n.23C>T)	dbSNP
20	g.51784242G=	CA2369155173	SALL4	c.23C= (n.23C=)
20	g.51784243C=	CA2369155175	SALL4	c.22G= (n.22G=)
20	g.51784243C>T	CA636172356	SALL4	c.22G>A (n.22G>A)	dbSNP gnomAD v2 gnomAD v4
20	g.51784244T>A	CA2816661505	SALL4	c.21A>T (n.21A>T)
20	g.51784244T>C	CA2369155177	SALL4	c.21A>G (n.21A>G)	dbSNP
20	g.51784244T=	CA2369155176	SALL4	c.21A= (n.21A=)
20	g.51784245C>A	CA2653358744	SALL4	c.20G>T (n.20G>T)	gnomAD v4
20	g.51784245C=	CA2369155178	SALL4	c.20G= (n.20G=)
20	g.51784245C>T	CA2369155179	SALL4	c.20G>A (n.20G>A)	dbSNP
20	g.51784249C=	CA2369155180	SALL4	c.16G= (n.16G=)
20	g.51784249C>G	CA9911905	SALL4	c.16G>C (n.16G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.51784249C>T	CA2653358745	SALL4	c.16G>A (n.16G>A)	gnomAD v4
20	g.51784250C=	CA2369155181	SALL4	c.15G= (n.15G=)
20	g.51784250C>T	CA9911906	SALL4	c.15G>A (n.15G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.51784251A=	CA2369155182	SALL4	c.14T= (n.14T=)
20	g.51784251_51784253delinsACG	CA2369155183	SALL4	c.12_14delinsCGT (n.12_14delinsCGT)
20	g.51784252C=	CA2369155184	SALL4	c.13G= (n.13G=)
20	g.51784252C>G	CA2369155185	SALL4	c.13G>C (n.13G>C)	dbSNP gnomAD v4
20	g.51784252C>T	CA9911908	SALL4	c.13G>A (n.13G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.51784253_51784254del	CA636172357	SALL4	c.12_13del (n.12_13del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.51784253_51784269dup	CA9911907	SALL4	c.3159_13dup (n.3159_13dup) c.828_13dup (n.828_13dup) c.2853_13dup (n.2853_13dup) c.3033_13dup (n.3033_13dup) c.1848_13dup (n.1848_13dup)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.51784253G>A	CA9911909	SALL4	c.12C>T (n.12C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.51784253G>C	CA315365596	SALL4	c.12C>G (n.12C>G)	dbSNP gnomAD v2 gnomAD v4
20	g.51784253G=	CA2369155186	SALL4	c.12C= (n.12C=)
20	g.51784253G>T	CA2653358747	SALL4	c.12C>A (n.12C>A)	gnomAD v4
20	g.51784254_51784257dup	CA2653358746	SALL4	c.9_12dup (n.9_12dup)	gnomAD v4
20	g.51784254C>A	CA2577428491	SALL4	c.11G>T (n.11G>T)	gnomAD v4
20	g.51784257G>A	CA2653358748	SALL4	c.8C>T (n.8C>T)	gnomAD v4
20	g.51784258T>C	CA9911910	SALL4	c.7A>G (n.7A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.51784258T=	CA2369155187	SALL4	c.7A= (n.7A=)
20	g.51784259T>C	CA2369155189	SALL4	c.6A>G (n.6A>G)	dbSNP
20	g.51784259T=	CA2369155188	SALL4	c.6A= (n.6A=)
20	g.51784260C>T	CA2653358749	SALL4	c.5G>A (n.5G>A)	gnomAD v4
20	g.51784263C>T	CA2577428492	SALL4	c.2G>A (n.2G>A)
20	g.51784265T>A	CA409005537	SALL4	c.3162A>T (p.Ter1054Tyr) c.831A>T (p.Ter277Tyr) c.1851A>T (p.Ter617Tyr) c.2856A>T (p.Ter952Tyr) c.3036A>T (p.Ter1012Tyr)
20	g.51784265T>C	CA511025432	SALL4	c.3162A>G (p.Ter1054=) c.831A>G (p.Ter277=) c.1851A>G (p.Ter617=) c.2856A>G (p.Ter952=) c.3036A>G (p.Ter1012=)
20	g.51784265T>G	CA409005538	SALL4	c.3162A>C (p.Ter1054Tyr) c.831A>C (p.Ter277Tyr) c.1851A>C (p.Ter617Tyr) c.2856A>C (p.Ter952Tyr) c.3036A>C (p.Ter1012Tyr)
20	g.51784266T>A	CA409005539	SALL4	c.3161A>T (p.Ter1054Leu) c.830A>T (p.Ter277Leu) c.1850A>T (p.Ter617Leu) c.2855A>T (p.Ter952Leu) c.3035A>T (p.Ter1012Leu)
20	g.51784266T>C	CA511025437	SALL4	c.3161A>G (p.Ter1054=) c.830A>G (p.Ter277=) c.1850A>G (p.Ter617=) c.2855A>G (p.Ter952=) c.3035A>G (p.Ter1012=)	ClinVar dbSNP
20	g.51784266T>G	CA409005540	SALL4	c.3161A>C (p.Ter1054Ser) c.830A>C (p.Ter277Ser) c.1850A>C (p.Ter617Ser) c.2855A>C (p.Ter952Ser) c.3035A>C (p.Ter1012Ser)
20	g.51784266T=	CA2369155190	SALL4	c.3161A= (p.Ter1054=) c.830A= (p.Ter277=) c.1850A= (p.Ter617=) c.2855A= (p.Ter952=) c.3035A= (p.Ter1012=)
20	g.51784267A>C	CA409005541	SALL4	c.3160T>G (p.Ter1054Glu) c.829T>G (p.Ter277Glu) c.1849T>G (p.Ter617Glu) c.2854T>G (p.Ter952Glu) c.3034T>G (p.Ter1012Glu)
20	g.51784267A>G	CA409005542	SALL4	c.3160T>C (p.Ter1054Gln) c.829T>C (p.Ter277Gln) c.1849T>C (p.Ter617Gln) c.2854T>C (p.Ter952Gln) c.3034T>C (p.Ter1012Gln)
20	g.51784267A>T	CA409005543	SALL4	c.3160T>A (p.Ter1054Lys) c.829T>A (p.Ter277Lys) c.1849T>A (p.Ter617Lys) c.2854T>A (p.Ter952Lys) c.3034T>A (p.Ter1012Lys)
20	g.51784268G>A	CA511025441	SALL4	c.3159C>T (p.Ser1053=) c.828C>T (p.Ser276=) c.1848C>T (p.Ser616=) c.2853C>T (p.Ser951=) c.3033C>T (p.Ser1011=)
20	g.51784268G>C	CA409005544	SALL4	c.3159C>G (p.Ser1053Arg) c.828C>G (p.Ser276Arg) c.1848C>G (p.Ser616Arg) c.2853C>G (p.Ser951Arg) c.3033C>G (p.Ser1011Arg)
20	g.51784268G>T	CA409005545	SALL4	c.3159C>A (p.Ser1053Arg) c.828C>A (p.Ser276Arg) c.1848C>A (p.Ser616Arg) c.2853C>A (p.Ser951Arg) c.3033C>A (p.Ser1011Arg)
20	g.51784269C>A	CA409005548	SALL4	c.3158G>T (p.Ser1053Ile) c.827G>T (p.Ser276Ile) c.1847G>T (p.Ser616Ile) c.2852G>T (p.Ser951Ile) c.3032G>T (p.Ser1011Ile)
20	g.51784269C=	CA2369155191	SALL4	c.3158G= (p.Ser1053=) c.827G= (p.Ser276=) c.1847G= (p.Ser616=) c.2852G= (p.Ser951=) c.3032G= (p.Ser1011=)
20	g.51784269C>G	CA409005547	SALL4	c.3158G>C (p.Ser1053Thr) c.827G>C (p.Ser276Thr) c.1847G>C (p.Ser616Thr) c.2852G>C (p.Ser951Thr) c.3032G>C (p.Ser1011Thr)
20	g.51784269C>T	CA409005546	SALL4	c.3158G>A (p.Ser1053Asn) c.827G>A (p.Ser276Asn) c.1847G>A (p.Ser616Asn) c.2852G>A (p.Ser951Asn) c.3032G>A (p.Ser1011Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.51784270T>A	CA409005549	SALL4	c.3157A>T (p.Ser1053Cys) c.826A>T (p.Ser276Cys) c.1846A>T (p.Ser616Cys) c.2851A>T (p.Ser951Cys) c.3031A>T (p.Ser1011Cys)
20	g.51784270T>C	CA409005550	SALL4	c.3157A>G (p.Ser1053Gly) c.826A>G (p.Ser276Gly) c.1846A>G (p.Ser616Gly) c.2851A>G (p.Ser951Gly) c.3031A>G (p.Ser1011Gly)
20	g.51784270T>G	CA409005551	SALL4	c.3157A>C (p.Ser1053Arg) c.826A>C (p.Ser276Arg) c.1846A>C (p.Ser616Arg) c.2851A>C (p.Ser951Arg) c.3031A>C (p.Ser1011Arg)
20	g.51784271G>A	CA511025461	SALL4	c.3156C>T (p.Val1052=) c.825C>T (p.Val275=) c.1845C>T (p.Val615=) c.2850C>T (p.Val950=) c.3030C>T (p.Val1010=)	dbSNP gnomAD v3 gnomAD v4 COSMIC
20	g.51784271G>C	CA511025460	SALL4	c.3156C>G (p.Val1052=) c.825C>G (p.Val275=) c.1845C>G (p.Val615=) c.2850C>G (p.Val950=) c.3030C>G (p.Val1010=)	gnomAD v4
20	g.51784271G=	CA2369155192	SALL4	c.3156C= (p.Val1052=) c.825C= (p.Val275=) c.1845C= (p.Val615=) c.2850C= (p.Val950=) c.3030C= (p.Val1010=)
20	g.51784271G>T	CA511025459	SALL4	c.3156C>A (p.Val1052=) c.825C>A (p.Val275=) c.1845C>A (p.Val615=) c.2850C>A (p.Val950=) c.3030C>A (p.Val1010=)	gnomAD v4
20	g.51784272A>C	CA409005552	SALL4	c.3155T>G (p.Val1052Gly) c.824T>G (p.Val275Gly) c.1844T>G (p.Val615Gly) c.2849T>G (p.Val950Gly) c.3029T>G (p.Val1010Gly)
20	g.51784272A>G	CA409005553	SALL4	c.3155T>C (p.Val1052Ala) c.824T>C (p.Val275Ala) c.1844T>C (p.Val615Ala) c.2849T>C (p.Val950Ala) c.3029T>C (p.Val1010Ala)
20	g.51784272A>T	CA409005554	SALL4	c.3155T>A (p.Val1052Asp) c.824T>A (p.Val275Asp) c.1844T>A (p.Val615Asp) c.2849T>A (p.Val950Asp) c.3029T>A (p.Val1010Asp)
20	g.51784273C>A	CA409005555	SALL4	c.3154G>T (p.Val1052Phe) c.823G>T (p.Val275Phe) c.1843G>T (p.Val615Phe) c.2848G>T (p.Val950Phe) c.3028G>T (p.Val1010Phe)	gnomAD v4
20	g.51784273C=	CA2369155193	SALL4	c.3154G= (p.Val1052=) c.823G= (p.Val275=) c.1843G= (p.Val615=) c.2848G= (p.Val950=) c.3028G= (p.Val1010=)
20	g.51784273C>G	CA409005557	SALL4	c.3154G>C (p.Val1052Leu) c.823G>C (p.Val275Leu) c.1843G>C (p.Val615Leu) c.2848G>C (p.Val950Leu) c.3028G>C (p.Val1010Leu)
20	g.51784273C>T	CA409005556	SALL4	c.3154G>A (p.Val1052Ile) c.823G>A (p.Val275Ile) c.1843G>A (p.Val615Ile) c.2848G>A (p.Val950Ile) c.3028G>A (p.Val1010Ile)	dbSNP gnomAD v4
20	g.51784274C>A	CA511025470	SALL4	c.3153G>T (p.Ala1051=) c.822G>T (p.Ala274=) c.1842G>T (p.Ala614=) c.2847G>T (p.Ala949=) c.3027G>T (p.Ala1009=)
20	g.51784274C=	CA2369155194	SALL4	c.3153G= (p.Ala1051=) c.822G= (p.Ala274=) c.1842G= (p.Ala614=) c.2847G= (p.Ala949=) c.3027G= (p.Ala1009=)
20	g.51784274C>G	CA511025471	SALL4	c.3153G>C (p.Ala1051=) c.822G>C (p.Ala274=) c.1842G>C (p.Ala614=) c.2847G>C (p.Ala949=) c.3027G>C (p.Ala1009=)	dbSNP gnomAD v3 gnomAD v4
20	g.51784274C>T	CA9911911	SALL4	c.3153G>A (p.Ala1051=) c.822G>A (p.Ala274=) c.1842G>A (p.Ala614=) c.2847G>A (p.Ala949=) c.3027G>A (p.Ala1009=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20	g.51784275G>A	CA9911912	SALL4	c.3152C>T (p.Ala1051Val) c.821C>T (p.Ala274Val) c.1841C>T (p.Ala614Val) c.2846C>T (p.Ala949Val) c.3026C>T (p.Ala1009Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.51784275G>C	CA409005558	SALL4	c.3152C>G (p.Ala1051Gly) c.821C>G (p.Ala274Gly) c.1841C>G (p.Ala614Gly) c.2846C>G (p.Ala949Gly) c.3026C>G (p.Ala1009Gly)
20	g.51784275G=	CA2369155195	SALL4	c.3152C= (p.Ala1051=) c.821C= (p.Ala274=) c.1841C= (p.Ala614=) c.2846C= (p.Ala949=) c.3026C= (p.Ala1009=)
20	g.51784275G>T	CA409005559	SALL4	c.3152C>A (p.Ala1051Glu) c.821C>A (p.Ala274Glu) c.1841C>A (p.Ala614Glu) c.2846C>A (p.Ala949Glu) c.3026C>A (p.Ala1009Glu)	gnomAD v4
20	g.51784276C>A	CA409005560	SALL4	c.3151G>T (p.Ala1051Ser) c.820G>T (p.Ala274Ser) c.1840G>T (p.Ala614Ser) c.2845G>T (p.Ala949Ser) c.3025G>T (p.Ala1009Ser)
20	g.51784276C>G	CA409005561	SALL4	c.3151G>C (p.Ala1051Pro) c.820G>C (p.Ala274Pro) c.1840G>C (p.Ala614Pro) c.2845G>C (p.Ala949Pro) c.3025G>C (p.Ala1009Pro)
20	g.51784276C>T	CA409005562	SALL4	c.3151G>A (p.Ala1051Thr) c.820G>A (p.Ala274Thr) c.1840G>A (p.Ala614Thr) c.2845G>A (p.Ala949Thr) c.3025G>A (p.Ala1009Thr)
20	g.51784277A>C	CA409005563	SALL4	c.3150T>G (p.Ile1050Met) c.819T>G (p.Ile273Met) c.1839T>G (p.Ile613Met) c.2844T>G (p.Ile948Met) c.3024T>G (p.Ile1008Met)
20	g.51784277A>G	CA511025479	SALL4	c.3150T>C (p.Ile1050=) c.819T>C (p.Ile273=) c.1839T>C (p.Ile613=) c.2844T>C (p.Ile948=) c.3024T>C (p.Ile1008=)
20	g.51784277A>T	CA511025478	SALL4	c.3150T>A (p.Ile1050=) c.819T>A (p.Ile273=) c.1839T>A (p.Ile613=) c.2844T>A (p.Ile948=) c.3024T>A (p.Ile1008=)
20	g.51784278A=	CA2369155196	SALL4	c.3149T= (p.Ile1050=) c.818T= (p.Ile273=) c.1838T= (p.Ile613=) c.2843T= (p.Ile948=) c.3023T= (p.Ile1008=)
20	g.51784278A>C	CA409005564	SALL4	c.3149T>G (p.Ile1050Ser) c.818T>G (p.Ile273Ser) c.1838T>G (p.Ile613Ser) c.2843T>G (p.Ile948Ser) c.3023T>G (p.Ile1008Ser)
20	g.51784278A>G	CA9911913	SALL4	c.3149T>C (p.Ile1050Thr) c.818T>C (p.Ile273Thr) c.1838T>C (p.Ile613Thr) c.2843T>C (p.Ile948Thr) c.3023T>C (p.Ile1008Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.51784278A>T	CA409005565	SALL4	c.3149T>A (p.Ile1050Asn) c.818T>A (p.Ile273Asn) c.1838T>A (p.Ile613Asn) c.2843T>A (p.Ile948Asn) c.3023T>A (p.Ile1008Asn)
20	g.51784279T>A	CA409005566	SALL4	c.3148A>T (p.Ile1050Phe) c.817A>T (p.Ile273Phe) c.1837A>T (p.Ile613Phe) c.2842A>T (p.Ile948Phe) c.3022A>T (p.Ile1008Phe)
20	g.51784279T>C	CA409005568	SALL4	c.3148A>G (p.Ile1050Val) c.817A>G (p.Ile273Val) c.1837A>G (p.Ile613Val) c.2842A>G (p.Ile948Val) c.3022A>G (p.Ile1008Val)	gnomAD v4
20	g.51784279T>G	CA409005567	SALL4	c.3148A>C (p.Ile1050Leu) c.817A>C (p.Ile273Leu) c.1837A>C (p.Ile613Leu) c.2842A>C (p.Ile948Leu) c.3022A>C (p.Ile1008Leu)
20	g.51784280C>A	CA409005569	SALL4	c.3147G>T (p.Lys1049Asn) c.816G>T (p.Lys272Asn) c.1836G>T (p.Lys612Asn) c.2841G>T (p.Lys947Asn) c.3021G>T (p.Lys1007Asn)	gnomAD v4 COSMIC
20	g.51784280C>G	CA409005570	SALL4	c.3147G>C (p.Lys1049Asn) c.816G>C (p.Lys272Asn) c.1836G>C (p.Lys612Asn) c.2841G>C (p.Lys947Asn) c.3021G>C (p.Lys1007Asn)
20	g.51784280C>T	CA511025485	SALL4	c.3147G>A (p.Lys1049=) c.816G>A (p.Lys272=) c.1836G>A (p.Lys612=) c.2841G>A (p.Lys947=) c.3021G>A (p.Lys1007=)
20	g.51784281T>A	CA409005571	SALL4	c.3146A>T (p.Lys1049Met) c.815A>T (p.Lys272Met) c.1835A>T (p.Lys612Met) c.2840A>T (p.Lys947Met) c.3020A>T (p.Lys1007Met)
20	g.51784281T>C	CA409005573	SALL4	c.3146A>G (p.Lys1049Arg) c.815A>G (p.Lys272Arg) c.1835A>G (p.Lys612Arg) c.2840A>G (p.Lys947Arg) c.3020A>G (p.Lys1007Arg)
20	g.51784281T>G	CA409005572	SALL4	c.3146A>C (p.Lys1049Thr) c.815A>C (p.Lys272Thr) c.1835A>C (p.Lys612Thr) c.2840A>C (p.Lys947Thr) c.3020A>C (p.Lys1007Thr)
20	g.51784282T>A	CA409005574	SALL4	c.3145A>T (p.Lys1049Ter) c.814A>T (p.Lys272Ter) c.1834A>T (p.Lys612Ter) c.2839A>T (p.Lys947Ter) c.3019A>T (p.Lys1007Ter)
20	g.51784282T>C	CA409005576	SALL4	c.3145A>G (p.Lys1049Glu) c.814A>G (p.Lys272Glu) c.1834A>G (p.Lys612Glu) c.2839A>G (p.Lys947Glu) c.3019A>G (p.Lys1007Glu)
20	g.51784282T>G	CA409005575	SALL4	c.3145A>C (p.Lys1049Gln) c.814A>C (p.Lys272Gln) c.1834A>C (p.Lys612Gln) c.2839A>C (p.Lys947Gln) c.3019A>C (p.Lys1007Gln)
20	g.51784283G>A	CA511025492	SALL4	c.3144C>T (p.Asn1048=) c.813C>T (p.Asn271=) c.1833C>T (p.Asn611=) c.2838C>T (p.Asn946=) c.3018C>T (p.Asn1006=)	gnomAD v4
20	g.51784283G>C	CA409005577	SALL4	c.3144C>G (p.Asn1048Lys) c.813C>G (p.Asn271Lys) c.1833C>G (p.Asn611Lys) c.2838C>G (p.Asn946Lys) c.3018C>G (p.Asn1006Lys)	dbSNP
20	g.51784283G=	CA2369155197	SALL4	c.3144C= (p.Asn1048=) c.813C= (p.Asn271=) c.1833C= (p.Asn611=) c.2838C= (p.Asn946=) c.3018C= (p.Asn1006=)
20	g.51784283G>T	CA409005578	SALL4	c.3144C>A (p.Asn1048Lys) c.813C>A (p.Asn271Lys) c.1833C>A (p.Asn611Lys) c.2838C>A (p.Asn946Lys) c.3018C>A (p.Asn1006Lys)
20	g.51784284T>A	CA409005579	SALL4	c.3143A>T (p.Asn1048Ile) c.812A>T (p.Asn271Ile) c.1832A>T (p.Asn611Ile) c.2837A>T (p.Asn946Ile) c.3017A>T (p.Asn1006Ile)
20	g.51784284T>C	CA409005580	SALL4	c.3143A>G (p.Asn1048Ser) c.812A>G (p.Asn271Ser) c.1832A>G (p.Asn611Ser) c.2837A>G (p.Asn946Ser) c.3017A>G (p.Asn1006Ser)
20	g.51784284T>G	CA409005581	SALL4	c.3143A>C (p.Asn1048Thr) c.812A>C (p.Asn271Thr) c.1832A>C (p.Asn611Thr) c.2837A>C (p.Asn946Thr) c.3017A>C (p.Asn1006Thr)	gnomAD v4
20	g.51784285T>A	CA409005582	SALL4	c.3142A>T (p.Asn1048Tyr) c.811A>T (p.Asn271Tyr) c.1831A>T (p.Asn611Tyr) c.2836A>T (p.Asn946Tyr) c.3016A>T (p.Asn1006Tyr)
20	g.51784285T>C	CA409005583	SALL4	c.3142A>G (p.Asn1048Asp) c.811A>G (p.Asn271Asp) c.1831A>G (p.Asn611Asp) c.2836A>G (p.Asn946Asp) c.3016A>G (p.Asn1006Asp)
20	g.51784285T>G	CA409005584	SALL4	c.3142A>C (p.Asn1048His) c.811A>C (p.Asn271His) c.1831A>C (p.Asn611His) c.2836A>C (p.Asn946His) c.3016A>C (p.Asn1006His)
20	g.51784286T>A	CA409005585	SALL4	c.3141A>T (p.Glu1047Asp) c.810A>T (p.Glu270Asp) c.1830A>T (p.Glu610Asp) c.2835A>T (p.Glu945Asp) c.3015A>T (p.Glu1005Asp)
20	g.51784286T>C	CA511025503	SALL4	c.3141A>G (p.Glu1047=) c.810A>G (p.Glu270=) c.1830A>G (p.Glu610=) c.2835A>G (p.Glu945=) c.3015A>G (p.Glu1005=)
20	g.51784286T>G	CA409005586	SALL4	c.3141A>C (p.Glu1047Asp) c.810A>C (p.Glu270Asp) c.1830A>C (p.Glu610Asp) c.2835A>C (p.Glu945Asp) c.3015A>C (p.Glu1005Asp)
20	g.51784289_51784291del	CA2577428493	SALL4	c.3139_3141del (p.Glu1047del) c.808_810del (p.Glu270del) c.1828_1830del (p.Glu610del) c.2833_2835del (p.Glu945del) c.3013_3015del (p.Glu1005del)
20	g.51784287T>A	CA409005587	SALL4	c.3140A>T (p.Glu1047Val) c.809A>T (p.Glu270Val) c.1829A>T (p.Glu610Val) c.2834A>T (p.Glu945Val) c.3014A>T (p.Glu1005Val)
20	g.51784287T>C	CA409005588	SALL4	c.3140A>G (p.Glu1047Gly) c.809A>G (p.Glu270Gly) c.1829A>G (p.Glu610Gly) c.2834A>G (p.Glu945Gly) c.3014A>G (p.Glu1005Gly)	gnomAD v4
20	g.51784287T>G	CA409005589	SALL4	c.3140A>C (p.Glu1047Ala) c.809A>C (p.Glu270Ala) c.1829A>C (p.Glu610Ala) c.2834A>C (p.Glu945Ala) c.3014A>C (p.Glu1005Ala)

Number of alleles fetched