Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
20 | g.51784288C>A | CA409005592 | SALL4 | c.3139G>T (p.Glu1047Ter) c.808G>T (p.Glu270Ter) c.1828G>T (p.Glu610Ter) c.2833G>T (p.Glu945Ter) c.3013G>T (p.Glu1005Ter) | COSMIC |
20 | g.51784288C>G | CA409005591 | SALL4 | c.3139G>C (p.Glu1047Gln) c.808G>C (p.Glu270Gln) c.1828G>C (p.Glu610Gln) c.2833G>C (p.Glu945Gln) c.3013G>C (p.Glu1005Gln) | |
20 | g.51784288C>T | CA409005590 | SALL4 | c.3139G>A (p.Glu1047Lys) c.808G>A (p.Glu270Lys) c.1828G>A (p.Glu610Lys) c.2833G>A (p.Glu945Lys) c.3013G>A (p.Glu1005Lys) | |
20 | g.51784289T>A | CA409005593 | SALL4 | c.3138A>T (p.Glu1046Asp) c.807A>T (p.Glu269Asp) c.1827A>T (p.Glu609Asp) c.2832A>T (p.Glu944Asp) c.3012A>T (p.Glu1004Asp) | |
20 | g.51784289T>C | CA511025509 | SALL4 | c.3138A>G (p.Glu1046=) c.807A>G (p.Glu269=) c.1827A>G (p.Glu609=) c.2832A>G (p.Glu944=) c.3012A>G (p.Glu1004=) | |
20 | g.51784289T>G | CA409005594 | SALL4 | c.3138A>C (p.Glu1046Asp) c.807A>C (p.Glu269Asp) c.1827A>C (p.Glu609Asp) c.2832A>C (p.Glu944Asp) c.3012A>C (p.Glu1004Asp) | |
20 | g.51784290T>A | CA409005595 | SALL4 | c.3137A>T (p.Glu1046Val) c.806A>T (p.Glu269Val) c.1826A>T (p.Glu609Val) c.2831A>T (p.Glu944Val) c.3011A>T (p.Glu1004Val) | |
20 | g.51784290T>C | CA409005596 | SALL4 | c.3137A>G (p.Glu1046Gly) c.806A>G (p.Glu269Gly) c.1826A>G (p.Glu609Gly) c.2831A>G (p.Glu944Gly) c.3011A>G (p.Glu1004Gly) | |
20 | g.51784290T>G | CA409005598 | SALL4 | c.3137A>C (p.Glu1046Ala) c.806A>C (p.Glu269Ala) c.1826A>C (p.Glu609Ala) c.2831A>C (p.Glu944Ala) c.3011A>C (p.Glu1004Ala) | |
20 | g.51784291C>A | CA409005599 | SALL4 | c.3136G>T (p.Glu1046Ter) c.805G>T (p.Glu269Ter) c.1825G>T (p.Glu609Ter) c.2830G>T (p.Glu944Ter) c.3010G>T (p.Glu1004Ter) | |
20 | g.51784291C>G | CA409005600 | SALL4 | c.3136G>C (p.Glu1046Gln) c.805G>C (p.Glu269Gln) c.1825G>C (p.Glu609Gln) c.2830G>C (p.Glu944Gln) c.3010G>C (p.Glu1004Gln) | |
20 | g.51784291C>T | CA409005601 | SALL4 | c.3136G>A (p.Glu1046Lys) c.805G>A (p.Glu269Lys) c.1825G>A (p.Glu609Lys) c.2830G>A (p.Glu944Lys) c.3010G>A (p.Glu1004Lys) | |
20 | g.51784292C>A | CA511025514 | SALL4 | c.3135G>T (p.Leu1045=) c.804G>T (p.Leu268=) c.1824G>T (p.Leu608=) c.2829G>T (p.Leu943=) c.3009G>T (p.Leu1003=) | |
20 | g.51784292C= | CA2369155198 | SALL4 | c.3135G= (p.Leu1045=) c.804G= (p.Leu268=) c.1824G= (p.Leu608=) c.2829G= (p.Leu943=) c.3009G= (p.Leu1003=) | |
20 | g.51784292C>G | CA511025515 | SALL4 | c.3135G>C (p.Leu1045=) c.804G>C (p.Leu268=) c.1824G>C (p.Leu608=) c.2829G>C (p.Leu943=) c.3009G>C (p.Leu1003=) | |
20 | g.51784292C>T | CA9911914 | SALL4 | c.3135G>A (p.Leu1045=) c.804G>A (p.Leu268=) c.1824G>A (p.Leu608=) c.2829G>A (p.Leu943=) c.3009G>A (p.Leu1003=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.51784293A= | CA2369155199 | SALL4 | c.3134T= (p.Leu1045=) c.803T= (p.Leu268=) c.1823T= (p.Leu608=) c.2828T= (p.Leu943=) c.3008T= (p.Leu1003=) | |
20 | g.51784293A>C | CA409005602 | SALL4 | c.3134T>G (p.Leu1045Arg) c.803T>G (p.Leu268Arg) c.1823T>G (p.Leu608Arg) c.2828T>G (p.Leu943Arg) c.3008T>G (p.Leu1003Arg) | |
20 | g.51784293A>G | CA409005603 | SALL4 | c.3134T>C (p.Leu1045Pro) c.803T>C (p.Leu268Pro) c.1823T>C (p.Leu608Pro) c.2828T>C (p.Leu943Pro) c.3008T>C (p.Leu1003Pro) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.51784293A>T | CA409005604 | SALL4 | c.3134T>A (p.Leu1045Gln) c.803T>A (p.Leu268Gln) c.1823T>A (p.Leu608Gln) c.2828T>A (p.Leu943Gln) c.3008T>A (p.Leu1003Gln) | |
20 | g.51784294G>A | CA511025519 | SALL4 | c.3133C>T (p.Leu1045=) c.802C>T (p.Leu268=) c.1822C>T (p.Leu608=) c.2827C>T (p.Leu943=) c.3007C>T (p.Leu1003=) | dbSNP |
20 | g.51784294G>C | CA409005606 | SALL4 | c.3133C>G (p.Leu1045Val) c.802C>G (p.Leu268Val) c.1822C>G (p.Leu608Val) c.2827C>G (p.Leu943Val) c.3007C>G (p.Leu1003Val) | |
20 | g.51784294G= | CA2369155200 | SALL4 | c.3133C= (p.Leu1045=) c.802C= (p.Leu268=) c.1822C= (p.Leu608=) c.2827C= (p.Leu943=) c.3007C= (p.Leu1003=) | |
20 | g.51784294G>T | CA409005605 | SALL4 | c.3133C>A (p.Leu1045Met) c.802C>A (p.Leu268Met) c.1822C>A (p.Leu608Met) c.2827C>A (p.Leu943Met) c.3007C>A (p.Leu1003Met) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.51784295G>A | CA511025523 | SALL4 | c.3132C>T (p.Phe1044=) c.801C>T (p.Phe267=) c.1821C>T (p.Phe607=) c.2826C>T (p.Phe942=) c.3006C>T (p.Phe1002=) | |
20 | g.51784295G>C | CA409005607 | SALL4 | c.3132C>G (p.Phe1044Leu) c.801C>G (p.Phe267Leu) c.1821C>G (p.Phe607Leu) c.2826C>G (p.Phe942Leu) c.3006C>G (p.Phe1002Leu) | |
20 | g.51784295G= | CA2369155201 | SALL4 | c.3132C= (p.Phe1044=) c.801C= (p.Phe267=) c.1821C= (p.Phe607=) c.2826C= (p.Phe942=) c.3006C= (p.Phe1002=) | |
20 | g.51784295G>T | CA409005608 | SALL4 | c.3132C>A (p.Phe1044Leu) c.801C>A (p.Phe267Leu) c.1821C>A (p.Phe607Leu) c.2826C>A (p.Phe942Leu) c.3006C>A (p.Phe1002Leu) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.51784296A= | CA2369155202 | SALL4 | c.3131T= (p.Phe1044=) c.800T= (p.Phe267=) c.1820T= (p.Phe607=) c.2825T= (p.Phe942=) c.3005T= (p.Phe1002=) | |
20 | g.51784296A>C | CA409005609 | SALL4 | c.3131T>G (p.Phe1044Cys) c.800T>G (p.Phe267Cys) c.1820T>G (p.Phe607Cys) c.2825T>G (p.Phe942Cys) c.3005T>G (p.Phe1002Cys) | |
20 | g.51784296A>G | CA409005610 | SALL4 | c.3131T>C (p.Phe1044Ser) c.800T>C (p.Phe267Ser) c.1820T>C (p.Phe607Ser) c.2825T>C (p.Phe942Ser) c.3005T>C (p.Phe1002Ser) | gnomAD v4 |
20 | g.51784296A>T | CA409005611 | SALL4 | c.3131T>A (p.Phe1044Tyr) c.800T>A (p.Phe267Tyr) c.1820T>A (p.Phe607Tyr) c.2825T>A (p.Phe942Tyr) c.3005T>A (p.Phe1002Tyr) | dbSNP |
20 | g.51784297A= | CA2369155203 | SALL4 | c.3130T= (p.Phe1044=) c.799T= (p.Phe267=) c.1819T= (p.Phe607=) c.2824T= (p.Phe942=) c.3004T= (p.Phe1002=) | |
20 | g.51784297A>C | CA409005612 | SALL4 | c.3130T>G (p.Phe1044Val) c.799T>G (p.Phe267Val) c.1819T>G (p.Phe607Val) c.2824T>G (p.Phe942Val) c.3004T>G (p.Phe1002Val) | dbSNP gnomAD v4 |
20 | g.51784297A>G | CA409005613 | SALL4 | c.3130T>C (p.Phe1044Leu) c.799T>C (p.Phe267Leu) c.1819T>C (p.Phe607Leu) c.2824T>C (p.Phe942Leu) c.3004T>C (p.Phe1002Leu) | dbSNP |
20 | g.51784297A>T | CA409005614 | SALL4 | c.3130T>A (p.Phe1044Ile) c.799T>A (p.Phe267Ile) c.1819T>A (p.Phe607Ile) c.2824T>A (p.Phe942Ile) c.3004T>A (p.Phe1002Ile) | dbSNP gnomAD v4 |
20 | g.51784298G>A | CA511025532 | SALL4 | c.3129C>T (p.His1043=) c.798C>T (p.His266=) c.1818C>T (p.His606=) c.2823C>T (p.His941=) c.3003C>T (p.His1001=) | |
20 | g.51784298G>C | CA409005615 | SALL4 | c.3129C>G (p.His1043Gln) c.798C>G (p.His266Gln) c.1818C>G (p.His606Gln) c.2823C>G (p.His941Gln) c.3003C>G (p.His1001Gln) | |
20 | g.51784298G= | CA2369155204 | SALL4 | c.3129C= (p.His1043=) c.798C= (p.His266=) c.1818C= (p.His606=) c.2823C= (p.His941=) c.3003C= (p.His1001=) | |
20 | g.51784298G>T | CA409005616 | SALL4 | c.3129C>A (p.His1043Gln) c.798C>A (p.His266Gln) c.1818C>A (p.His606Gln) c.2823C>A (p.His941Gln) c.3003C>A (p.His1001Gln) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.51784299T>A | CA409005617 | SALL4 | c.3128A>T (p.His1043Leu) c.797A>T (p.His266Leu) c.1817A>T (p.His606Leu) c.2822A>T (p.His941Leu) c.3002A>T (p.His1001Leu) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.51784299T>C | CA409005618 | SALL4 | c.3128A>G (p.His1043Arg) c.797A>G (p.His266Arg) c.1817A>G (p.His606Arg) c.2822A>G (p.His941Arg) c.3002A>G (p.His1001Arg) | |
20 | g.51784299T>G | CA9911915 | SALL4 | c.3128A>C (p.His1043Pro) c.797A>C (p.His266Pro) c.1817A>C (p.His606Pro) c.2822A>C (p.His941Pro) c.3002A>C (p.His1001Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.51784299T= | CA2369155205 | SALL4 | c.3128A= (p.His1043=) c.797A= (p.His266=) c.1817A= (p.His606=) c.2822A= (p.His941=) c.3002A= (p.His1001=) | |
20 | g.51784300G>A | CA409005621 | SALL4 | c.3127C>T (p.His1043Tyr) c.796C>T (p.His266Tyr) c.1816C>T (p.His606Tyr) c.2821C>T (p.His941Tyr) c.3001C>T (p.His1001Tyr) | |
20 | g.51784300G>C | CA409005619 | SALL4 | c.3127C>G (p.His1043Asp) c.796C>G (p.His266Asp) c.1816C>G (p.His606Asp) c.2821C>G (p.His941Asp) c.3001C>G (p.His1001Asp) | |
20 | g.51784300G>T | CA409005620 | SALL4 | c.3127C>A (p.His1043Asn) c.796C>A (p.His266Asn) c.1816C>A (p.His606Asn) c.2821C>A (p.His941Asn) c.3001C>A (p.His1001Asn) | |
20 | g.51784301A>C | CA511025544 | SALL4 | c.3126T>G (p.Pro1042=) c.795T>G (p.Pro265=) c.1815T>G (p.Pro605=) c.2820T>G (p.Pro940=) c.3000T>G (p.Pro1000=) | |
20 | g.51784301A>G | CA511025542 | SALL4 | c.3126T>C (p.Pro1042=) c.795T>C (p.Pro265=) c.1815T>C (p.Pro605=) c.2820T>C (p.Pro940=) c.3000T>C (p.Pro1000=) | |
20 | g.51784301A>T | CA511025540 | SALL4 | c.3126T>A (p.Pro1042=) c.795T>A (p.Pro265=) c.1815T>A (p.Pro605=) c.2820T>A (p.Pro940=) c.3000T>A (p.Pro1000=) | |
20 | g.51784302G>A | CA409005622 | SALL4 | c.3125C>T (p.Pro1042Leu) c.794C>T (p.Pro265Leu) c.1814C>T (p.Pro605Leu) c.2819C>T (p.Pro940Leu) c.2999C>T (p.Pro1000Leu) | |
20 | g.51784302G>C | CA409005623 | SALL4 | c.3125C>G (p.Pro1042Arg) c.794C>G (p.Pro265Arg) c.1814C>G (p.Pro605Arg) c.2819C>G (p.Pro940Arg) c.2999C>G (p.Pro1000Arg) | |
20 | g.51784302G>T | CA409005624 | SALL4 | c.3125C>A (p.Pro1042His) c.794C>A (p.Pro265His) c.1814C>A (p.Pro605His) c.2819C>A (p.Pro940His) c.2999C>A (p.Pro1000His) | |
20 | g.51784303G>A | CA409005625 | SALL4 | c.3124C>T (p.Pro1042Ser) c.793C>T (p.Pro265Ser) c.1813C>T (p.Pro605Ser) c.2818C>T (p.Pro940Ser) c.2998C>T (p.Pro1000Ser) | COSMIC |
20 | g.51784303G>C | CA409005626 | SALL4 | c.3124C>G (p.Pro1042Ala) c.793C>G (p.Pro265Ala) c.1813C>G (p.Pro605Ala) c.2818C>G (p.Pro940Ala) c.2998C>G (p.Pro1000Ala) | |
20 | g.51784303G>T | CA409005627 | SALL4 | c.3124C>A (p.Pro1042Thr) c.793C>A (p.Pro265Thr) c.1813C>A (p.Pro605Thr) c.2818C>A (p.Pro940Thr) c.2998C>A (p.Pro1000Thr) | |
20 | g.51784304A>C | CA409005628 | SALL4 | c.3123T>G (p.Phe1041Leu) c.792T>G (p.Phe264Leu) c.1812T>G (p.Phe604Leu) c.2817T>G (p.Phe939Leu) c.2997T>G (p.Phe999Leu) | |
20 | g.51784304A>G | CA511025551 | SALL4 | c.3123T>C (p.Phe1041=) c.792T>C (p.Phe264=) c.1812T>C (p.Phe604=) c.2817T>C (p.Phe939=) c.2997T>C (p.Phe999=) | |
20 | g.51784304A>T | CA409005629 | SALL4 | c.3123T>A (p.Phe1041Leu) c.792T>A (p.Phe264Leu) c.1812T>A (p.Phe604Leu) c.2817T>A (p.Phe939Leu) c.2997T>A (p.Phe999Leu) | |
20 | g.51784304_51785229delinsCTAAGGCAGGAGAATCACTTGAACCCAGAAT | CA645610833 | SALL4 | c.2743-545_3123delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.412-545_792delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.1432-545_1812delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.2437-545_2817delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.2617-545_2997delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG | COSMIC |
20 | g.51784305A>C | CA409005630 | SALL4 | c.3122T>G (p.Phe1041Cys) c.791T>G (p.Phe264Cys) c.1811T>G (p.Phe604Cys) c.2816T>G (p.Phe939Cys) c.2996T>G (p.Phe999Cys) | |
20 | g.51784305A>G | CA409005631 | SALL4 | c.3122T>C (p.Phe1041Ser) c.791T>C (p.Phe264Ser) c.1811T>C (p.Phe604Ser) c.2816T>C (p.Phe939Ser) c.2996T>C (p.Phe999Ser) | |
20 | g.51784305A>T | CA409005632 | SALL4 | c.3122T>A (p.Phe1041Tyr) c.791T>A (p.Phe264Tyr) c.1811T>A (p.Phe604Tyr) c.2816T>A (p.Phe939Tyr) c.2996T>A (p.Phe999Tyr) | |
20 | g.51784306A= | CA2369155206 | SALL4 | c.3121T= (p.Phe1041=) c.790T= (p.Phe264=) c.1810T= (p.Phe604=) c.2815T= (p.Phe939=) c.2995T= (p.Phe999=) | |
20 | g.51784306A>C | CA409005635 | SALL4 | c.3121T>G (p.Phe1041Val) c.790T>G (p.Phe264Val) c.1810T>G (p.Phe604Val) c.2815T>G (p.Phe939Val) c.2995T>G (p.Phe999Val) | |
20 | g.51784306A>G | CA409005634 | SALL4 | c.3121T>C (p.Phe1041Leu) c.790T>C (p.Phe264Leu) c.1810T>C (p.Phe604Leu) c.2815T>C (p.Phe939Leu) c.2995T>C (p.Phe999Leu) | |
20 | g.51784306A>T | CA409005633 | SALL4 | c.3121T>A (p.Phe1041Ile) c.790T>A (p.Phe264Ile) c.1810T>A (p.Phe604Ile) c.2815T>A (p.Phe939Ile) c.2995T>A (p.Phe999Ile) | dbSNP |
20 | g.51784307C>A | CA409005636 | SALL4 | c.3120G>T (p.Gln1040His) c.789G>T (p.Gln263His) c.1809G>T (p.Gln603His) c.2814G>T (p.Gln938His) c.2994G>T (p.Gln998His) | |
20 | g.51784307C= | CA2369155207 | SALL4 | c.3120G= (p.Gln1040=) c.789G= (p.Gln263=) c.1809G= (p.Gln603=) c.2814G= (p.Gln938=) c.2994G= (p.Gln998=) | |
20 | g.51784307C>G | CA409005637 | SALL4 | c.3120G>C (p.Gln1040His) c.789G>C (p.Gln263His) c.1809G>C (p.Gln603His) c.2814G>C (p.Gln938His) c.2994G>C (p.Gln998His) | dbSNP gnomAD v4 |
20 | g.51784307C>T | CA511025556 | SALL4 | c.3120G>A (p.Gln1040=) c.789G>A (p.Gln263=) c.1809G>A (p.Gln603=) c.2814G>A (p.Gln938=) c.2994G>A (p.Gln998=) | |
20 | g.51784308T>A | CA409005638 | SALL4 | c.3119A>T (p.Gln1040Leu) c.788A>T (p.Gln263Leu) c.1808A>T (p.Gln603Leu) c.2813A>T (p.Gln938Leu) c.2993A>T (p.Gln998Leu) | |
20 | g.51784308T>C | CA409005639 | SALL4 | c.3119A>G (p.Gln1040Arg) c.788A>G (p.Gln263Arg) c.1808A>G (p.Gln603Arg) c.2813A>G (p.Gln938Arg) c.2993A>G (p.Gln998Arg) | |
20 | g.51784308T>G | CA315365628 | SALL4 | c.3119A>C (p.Gln1040Pro) c.788A>C (p.Gln263Pro) c.1808A>C (p.Gln603Pro) c.2813A>C (p.Gln938Pro) c.2993A>C (p.Gln998Pro) | dbSNP |
20 | g.51784308T= | CA2369155208 | SALL4 | c.3119A= (p.Gln1040=) c.788A= (p.Gln263=) c.1808A= (p.Gln603=) c.2813A= (p.Gln938=) c.2993A= (p.Gln998=) | |
20 | g.51784309G>A | CA409005640 | SALL4 | c.3118C>T (p.Gln1040Ter) c.787C>T (p.Gln263Ter) c.1807C>T (p.Gln603Ter) c.2812C>T (p.Gln938Ter) c.2992C>T (p.Gln998Ter) | |
20 | g.51784309G>C | CA409005641 | SALL4 | c.3118C>G (p.Gln1040Glu) c.787C>G (p.Gln263Glu) c.1807C>G (p.Gln603Glu) c.2812C>G (p.Gln938Glu) c.2992C>G (p.Gln998Glu) | |
20 | g.51784309G>T | CA409005642 | SALL4 | c.3118C>A (p.Gln1040Lys) c.787C>A (p.Gln263Lys) c.1807C>A (p.Gln603Lys) c.2812C>A (p.Gln938Lys) c.2992C>A (p.Gln998Lys) | |
20 | g.51784310G>A | CA511025562 | SALL4 | c.3117C>T (p.His1039=) c.786C>T (p.His262=) c.1806C>T (p.His602=) c.2811C>T (p.His937=) c.2991C>T (p.His997=) | gnomAD v4 |
20 | g.51784310G>C | CA409005643 | SALL4 | c.3117C>G (p.His1039Gln) c.786C>G (p.His262Gln) c.1806C>G (p.His602Gln) c.2811C>G (p.His937Gln) c.2991C>G (p.His997Gln) | |
20 | g.51784310G>T | CA409005644 | SALL4 | c.3117C>A (p.His1039Gln) c.786C>A (p.His262Gln) c.1806C>A (p.His602Gln) c.2811C>A (p.His937Gln) c.2991C>A (p.His997Gln) |