Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.51784181C>A | CA2653358722 | SALL4 | c.*84G>T (n.*84G>T) | gnomAD v4 |
20 | g.51784181C>G | CA2653358723 | SALL4 | c.*84G>C (n.*84G>C) | gnomAD v4 |
20 | g.51784181_51784184delinsCAGG | CA2369155147 | SALL4 | c.*81_*84delinsCCTG (n.*81_*84delinsCCTG) | |
20 | g.51784182A>G | CA2653358724 | SALL4 | c.*83T>C (n.*83T>C) | gnomAD v4 |
20 | g.51784187_51784189del | CA745389521 | SALL4 | c.*81_*83del (n.*81_*83del) | dbSNP gnomAD v4 |
20 | g.51784183G>A | CA745389524 | SALL4 | c.*82C>T (n.*82C>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.51784183G= | CA2369155148 | SALL4 | c.*82C= (n.*82C=) | |
20 | g.51784184G>A | CA2577428479 | SALL4 | c.*81C>T (n.*81C>T) | |
20 | g.51784185A>G | CA2577428480 | SALL4 | c.*80T>C (n.*80T>C) | |
20 | g.51784186G>A | CA2369155150 | SALL4 | c.*79C>T (n.*79C>T) | dbSNP gnomAD v4 |
20 | g.51784186G= | CA2369155149 | SALL4 | c.*79C= (n.*79C=) | |
20 | g.51784187G>A | CA2838541165 | SALL4 | c.*78C>T (n.*78C>T) | |
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.51784193A>T | CA2842249025 | SALL4 | c.*72T>A (n.*72T>A) | |
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) |