Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.42048502_42048575del | CA2573142173 | GLI3 | c.602_675del (p.Met201ArgfsTer?) c.425_498del (p.Met142ArgfsTer?) n.579_652del c.599_672del (p.Met200ArgfsTer?) | ClinVar dbSNP |
7 | g.42048562T>A | CA367333077 | GLI3 | c.608A>T (p.Tyr203Phe) c.431A>T (p.Tyr144Phe) n.585A>T c.605A>T (p.Tyr202Phe) | |
7 | g.42048562T>C | CA367333073 | GLI3 | c.608A>G (p.Tyr203Cys) c.431A>G (p.Tyr144Cys) n.585A>G c.605A>G (p.Tyr202Cys) | |
7 | g.42048562T>G | CA367333075 | GLI3 | c.608A>C (p.Tyr203Ser) c.431A>C (p.Tyr144Ser) n.585A>C c.605A>C (p.Tyr202Ser) | |
7 | g.42048563A>C | CA367333079 | GLI3 | c.607T>G (p.Tyr203Asp) c.430T>G (p.Tyr144Asp) n.584T>G c.604T>G (p.Tyr202Asp) | |
7 | g.42048563A>G | CA367333080 | GLI3 | c.607T>C (p.Tyr203His) c.430T>C (p.Tyr144His) n.584T>C c.604T>C (p.Tyr202His) | |
7 | g.42048563A>T | CA367333082 | GLI3 | c.607T>A (p.Tyr203Asn) c.430T>A (p.Tyr144Asn) n.584T>A c.604T>A (p.Tyr202Asn) | |
7 | g.42048564G>A | CA454537605 | GLI3 | c.606C>T (p.Asp202=) c.429C>T (p.Asp143=) n.583C>T c.603C>T (p.Asp201=) | dbSNP |
7 | g.42048564G>C | CA367333084 | GLI3 | c.606C>G (p.Asp202Glu) c.429C>G (p.Asp143Glu) n.583C>G c.603C>G (p.Asp201Glu) | |
7 | g.42048564G= | CA1702698908 | GLI3 | c.606C= (p.Asp202=) c.429C= (p.Asp143=) n.583C= c.603C= (p.Asp201=) | |
7 | g.42048564G>T | CA367333086 | GLI3 | c.606C>A (p.Asp202Glu) c.429C>A (p.Asp143Glu) n.583C>A c.603C>A (p.Asp201Glu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42048565T>A | CA367333088 | GLI3 | c.605A>T (p.Asp202Val) c.428A>T (p.Asp143Val) n.582A>T c.602A>T (p.Asp201Val) | |
7 | g.42048565T>C | CA367333093 | GLI3 | c.605A>G (p.Asp202Gly) c.428A>G (p.Asp143Gly) n.582A>G c.602A>G (p.Asp201Gly) | |
7 | g.42048565T>G | CA367333091 | GLI3 | c.605A>C (p.Asp202Ala) c.428A>C (p.Asp143Ala) n.582A>C c.602A>C (p.Asp201Ala) | |
7 | g.42048566C>A | CA367333095 | GLI3 | c.604G>T (p.Asp202Tyr) c.427G>T (p.Asp143Tyr) n.581G>T c.601G>T (p.Asp201Tyr) | |
7 | g.42048566C>G | CA367333098 | GLI3 | c.604G>C (p.Asp202His) c.427G>C (p.Asp143His) n.581G>C c.601G>C (p.Asp201His) | |
7 | g.42048566C>T | CA367333100 | GLI3 | c.604G>A (p.Asp202Asn) c.427G>A (p.Asp143Asn) n.581G>A c.601G>A (p.Asp201Asn) | |
7 | g.42048567C>A | CA367333102 | GLI3 | c.603G>T (p.Met201Ile) c.426G>T (p.Met142Ile) n.580G>T c.600G>T (p.Met200Ile) | |
7 | g.42048567C>G | CA367333104 | GLI3 | c.603G>C (p.Met201Ile) c.426G>C (p.Met142Ile) n.580G>C c.600G>C (p.Met200Ile) | |
7 | g.42048567C>T | CA367333105 | GLI3 | c.603G>A (p.Met201Ile) c.426G>A (p.Met142Ile) n.580G>A c.600G>A (p.Met200Ile) | |
7 | g.42048568A>C | CA367333107 | GLI3 | c.602T>G (p.Met201Arg) c.425T>G (p.Met142Arg) n.579T>G c.599T>G (p.Met200Arg) | |
7 | g.42048568A>G | CA367333109 | GLI3 | c.602T>C (p.Met201Thr) c.425T>C (p.Met142Thr) n.579T>C c.599T>C (p.Met200Thr) | |
7 | g.42048568A>T | CA367333111 | GLI3 | c.602T>A (p.Met201Lys) c.425T>A (p.Met142Lys) n.579T>A c.599T>A (p.Met200Lys) | |
7 | g.42048569T>A | CA367333114 | GLI3 | c.601A>T (p.Met201Leu) c.424A>T (p.Met142Leu) n.578A>T c.598A>T (p.Met200Leu) | |
7 | g.42048569T>C | CA4231136 | GLI3 | c.601A>G (p.Met201Val) c.424A>G (p.Met142Val) n.578A>G c.598A>G (p.Met200Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42048569T>G | CA367333117 | GLI3 | c.601A>C (p.Met201Leu) c.424A>C (p.Met142Leu) n.578A>C c.598A>C (p.Met200Leu) | |
7 | g.42048569T= | CA1702698912 | GLI3 | c.601A= (p.Met201=) c.424A= (p.Met142=) n.578A= c.598A= (p.Met200=) | |
7 | g.42048570G>A | CA4231137 | GLI3 | c.600C>T (p.Tyr200=) c.423C>T (p.Tyr141=) n.577C>T c.597C>T (p.Tyr199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42048570G>C | CA367333122 | GLI3 | c.600C>G (p.Tyr200Ter) c.423C>G (p.Tyr141Ter) n.577C>G c.597C>G (p.Tyr199Ter) | |
7 | g.42048570G= | CA1702698915 | GLI3 | c.600C= (p.Tyr200=) c.423C= (p.Tyr141=) n.577C= c.597C= (p.Tyr199=) | |
7 | g.42048570G>T | CA367333119 | GLI3 | c.600C>A (p.Tyr200Ter) c.423C>A (p.Tyr141Ter) n.577C>A c.597C>A (p.Tyr199Ter) | |
7 | g.42048571T>A | CA367333125 | GLI3 | c.599A>T (p.Tyr200Phe) c.422A>T (p.Tyr141Phe) n.576A>T c.596A>T (p.Tyr199Phe) | |
7 | g.42048571T>C | CA4231138 | GLI3 | c.599A>G (p.Tyr200Cys) c.422A>G (p.Tyr141Cys) n.576A>G c.596A>G (p.Tyr199Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42048571T>G | CA367333128 | GLI3 | c.599A>C (p.Tyr200Ser) c.422A>C (p.Tyr141Ser) n.576A>C c.596A>C (p.Tyr199Ser) | gnomAD v4 |
7 | g.42048571T= | CA1702698918 | GLI3 | c.599A= (p.Tyr200=) c.422A= (p.Tyr141=) n.576A= c.596A= (p.Tyr199=) | |
7 | g.42048572A>C | CA367333130 | GLI3 | c.598T>G (p.Tyr200Asp) c.421T>G (p.Tyr141Asp) n.575T>G c.595T>G (p.Tyr199Asp) | |
7 | g.42048572A>G | CA367333132 | GLI3 | c.598T>C (p.Tyr200His) c.421T>C (p.Tyr141His) n.575T>C c.595T>C (p.Tyr199His) | |
7 | g.42048572A>T | CA367333133 | GLI3 | c.598T>A (p.Tyr200Asn) c.421T>A (p.Tyr141Asn) n.575T>A c.595T>A (p.Tyr199Asn) | |
7 | g.42048573G>A | CA454537606 | GLI3 | c.597C>T (p.Pro199=) c.420C>T (p.Pro140=) n.574C>T c.594C>T (p.Pro198=) | |
7 | g.42048573G>C | CA454537607 | GLI3 | c.597C>G (p.Pro199=) c.420C>G (p.Pro140=) n.574C>G c.594C>G (p.Pro198=) | |
7 | g.42048573G>T | CA454537608 | GLI3 | c.597C>A (p.Pro199=) c.420C>A (p.Pro140=) n.574C>A c.594C>A (p.Pro198=) | COSMIC |
7 | g.42048574G>A | CA367333136 | GLI3 | c.596C>T (p.Pro199Leu) c.419C>T (p.Pro140Leu) n.573C>T c.593C>T (p.Pro198Leu) | dbSNP gnomAD v4 |
7 | g.42048574G>C | CA367333134 | GLI3 | c.596C>G (p.Pro199Arg) c.419C>G (p.Pro140Arg) n.573C>G c.593C>G (p.Pro198Arg) | |
7 | g.42048574G= | CA1702698922 | GLI3 | c.596C= (p.Pro199=) c.419C= (p.Pro140=) n.573C= c.593C= (p.Pro198=) | |
7 | g.42048574G>T | CA367333135 | GLI3 | c.596C>A (p.Pro199His) c.419C>A (p.Pro140His) n.573C>A c.593C>A (p.Pro198His) | |
7 | g.42048575G>A | CA367333138 | GLI3 | c.595C>T (p.Pro199Ser) c.418C>T (p.Pro140Ser) n.572C>T c.592C>T (p.Pro198Ser) | COSMIC |
7 | g.42048575G>C | CA367333140 | GLI3 | c.595C>G (p.Pro199Ala) c.418C>G (p.Pro140Ala) n.572C>G c.592C>G (p.Pro198Ala) | |
7 | g.42048575G>T | CA367333143 | GLI3 | c.595C>A (p.Pro199Thr) c.418C>A (p.Pro140Thr) n.572C>A c.592C>A (p.Pro198Thr) | |
7 | g.42048576A>C | CA367333145 | GLI3 | c.594T>G (p.Asn198Lys) c.417T>G (p.Asn139Lys) n.571T>G c.591T>G (p.Asn197Lys) | |
7 | g.42048576A>G | CA454537609 | GLI3 | c.594T>C (p.Asn198=) c.417T>C (p.Asn139=) n.571T>C c.591T>C (p.Asn197=) | |
7 | g.42048576A>T | CA367333147 | GLI3 | c.594T>A (p.Asn198Lys) c.417T>A (p.Asn139Lys) n.571T>A c.591T>A (p.Asn197Lys) | |
7 | g.42048577T>A | CA367333157 | GLI3 | c.593A>T (p.Asn198Ile) c.416A>T (p.Asn139Ile) n.570A>T c.590A>T (p.Asn197Ile) | |
7 | g.42048577T>C | CA367333150 | GLI3 | c.593A>G (p.Asn198Ser) c.416A>G (p.Asn139Ser) n.570A>G c.590A>G (p.Asn197Ser) | gnomAD v4 |
7 | g.42048577T>G | CA367333156 | GLI3 | c.593A>C (p.Asn198Thr) c.416A>C (p.Asn139Thr) n.570A>C c.590A>C (p.Asn197Thr) | |
7 | g.42048578T>A | CA367333160 | GLI3 | c.592A>T (p.Asn198Tyr) c.415A>T (p.Asn139Tyr) n.569A>T c.589A>T (p.Asn197Tyr) | |
7 | g.42048578T>C | CA367333161 | GLI3 | c.592A>G (p.Asn198Asp) c.415A>G (p.Asn139Asp) n.569A>G c.589A>G (p.Asn197Asp) | |
7 | g.42048578T>G | CA367333163 | GLI3 | c.592A>C (p.Asn198His) c.415A>C (p.Asn139His) n.569A>C c.589A>C (p.Asn197His) | |
7 | g.42048579A= | CA1702698924 | GLI3 | c.591T= (p.Ile197=) c.414T= (p.Ile138=) n.568T= c.588T= (p.Ile196=) | |
7 | g.42048579A>C | CA367333166 | GLI3 | c.591T>G (p.Ile197Met) c.414T>G (p.Ile138Met) n.568T>G c.588T>G (p.Ile196Met) | |
7 | g.42048579A>G | CA454537610 | GLI3 | c.591T>C (p.Ile197=) c.414T>C (p.Ile138=) n.568T>C c.588T>C (p.Ile196=) | |
7 | g.42048579A>T | CA156915719 | GLI3 | c.591T>A (p.Ile197=) c.414T>A (p.Ile138=) n.568T>A c.588T>A (p.Ile196=) | dbSNP |
7 | g.42048580A>C | CA367333168 | GLI3 | c.590T>G (p.Ile197Ser) c.413T>G (p.Ile138Ser) n.567T>G c.587T>G (p.Ile196Ser) | |
7 | g.42048580A>G | CA367333170 | GLI3 | c.590T>C (p.Ile197Thr) c.413T>C (p.Ile138Thr) n.567T>C c.587T>C (p.Ile196Thr) | gnomAD v4 |
7 | g.42048580A>T | CA367333172 | GLI3 | c.590T>A (p.Ile197Asn) c.413T>A (p.Ile138Asn) n.567T>A c.587T>A (p.Ile196Asn) | |
7 | g.42048581T>A | CA367333174 | GLI3 | c.589A>T (p.Ile197Phe) c.412A>T (p.Ile138Phe) n.566A>T c.586A>T (p.Ile196Phe) | |
7 | g.42048581T>C | CA367333176 | GLI3 | c.589A>G (p.Ile197Val) c.412A>G (p.Ile138Val) n.566A>G c.586A>G (p.Ile196Val) | gnomAD v4 |
7 | g.42048581T>G | CA367333179 | GLI3 | c.589A>C (p.Ile197Leu) c.412A>C (p.Ile138Leu) n.566A>C c.586A>C (p.Ile196Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42048581T= | CA1702698928 | GLI3 | c.589A= (p.Ile197=) c.412A= (p.Ile138=) n.566A= c.586A= (p.Ile196=) | |
7 | g.42048582G>A | CA4231139 | GLI3 | c.588C>T (p.Tyr196=) c.411C>T (p.Tyr137=) n.565C>T c.585C>T (p.Tyr195=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.42048582G>C | CA367333183 | GLI3 | c.588C>G (p.Tyr196Ter) c.411C>G (p.Tyr137Ter) n.565C>G c.585C>G (p.Tyr195Ter) | dbSNP |
7 | g.42048582G= | CA1702698933 | GLI3 | c.588C= (p.Tyr196=) c.411C= (p.Tyr137=) n.565C= c.585C= (p.Tyr195=) | |
7 | g.42048582G>T | CA367333184 | GLI3 | c.588C>A (p.Tyr196Ter) c.411C>A (p.Tyr137Ter) n.565C>A c.585C>A (p.Tyr195Ter) | |
7 | g.42048583T>A | CA367333187 | GLI3 | c.587A>T (p.Tyr196Phe) c.410A>T (p.Tyr137Phe) n.564A>T c.584A>T (p.Tyr195Phe) | |
7 | g.42048583T>C | CA367333191 | GLI3 | c.587A>G (p.Tyr196Cys) c.410A>G (p.Tyr137Cys) n.564A>G c.584A>G (p.Tyr195Cys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42048583T>G | CA367333189 | GLI3 | c.587A>C (p.Tyr196Ser) c.410A>C (p.Tyr137Ser) n.564A>C c.584A>C (p.Tyr195Ser) | |
7 | g.42048583T= | CA1702698935 | GLI3 | c.587A= (p.Tyr196=) c.410A= (p.Tyr137=) n.564A= c.584A= (p.Tyr195=) | |
7 | g.42048584A>C | CA367333194 | GLI3 | c.586T>G (p.Tyr196Asp) c.409T>G (p.Tyr137Asp) n.563T>G c.583T>G (p.Tyr195Asp) | |
7 | g.42048584A>G | CA367333197 | GLI3 | c.586T>C (p.Tyr196His) c.409T>C (p.Tyr137His) n.563T>C c.583T>C (p.Tyr195His) | |
7 | g.42048584A>T | CA367333198 | GLI3 | c.586T>A (p.Tyr196Asn) c.409T>A (p.Tyr137Asn) n.563T>A c.583T>A (p.Tyr195Asn) | |
7 | g.42048585G>A | CA4231140 | GLI3 | c.585C>T (p.Pro195=) c.408C>T (p.Pro136=) n.562C>T c.582C>T (p.Pro194=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42048585G>C | CA454537611 | GLI3 | c.585C>G (p.Pro195=) c.408C>G (p.Pro136=) n.562C>G c.582C>G (p.Pro194=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42048585G= | CA1702698938 | GLI3 | c.585C= (p.Pro195=) c.408C= (p.Pro136=) n.562C= c.582C= (p.Pro194=) | |
7 | g.42048585G>T | CA454537612 | GLI3 | c.585C>A (p.Pro195=) c.408C>A (p.Pro136=) n.562C>A c.582C>A (p.Pro194=) | |
7 | g.42048586G>A | CA367333200 | GLI3 | c.584C>T (p.Pro195Leu) c.407C>T (p.Pro136Leu) n.561C>T c.581C>T (p.Pro194Leu) | COSMIC |
7 | g.42048586G>C | CA367333206 | GLI3 | c.584C>G (p.Pro195Arg) c.407C>G (p.Pro136Arg) n.561C>G c.581C>G (p.Pro194Arg) | |
7 | g.42048586G>T | CA367333208 | GLI3 | c.584C>A (p.Pro195His) c.407C>A (p.Pro136His) n.561C>A c.581C>A (p.Pro194His) | |
7 | g.42048587G>A | CA367333210 | GLI3 | c.583C>T (p.Pro195Ser) c.406C>T (p.Pro136Ser) n.560C>T c.580C>T (p.Pro194Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42048587G>C | CA367333213 | GLI3 | c.583C>G (p.Pro195Ala) c.406C>G (p.Pro136Ala) n.560C>G c.580C>G (p.Pro194Ala) | gnomAD v4 |
7 | g.42048587G= | CA1702698940 | GLI3 | c.583C= (p.Pro195=) c.406C= (p.Pro136=) n.560C= c.580C= (p.Pro194=) | |
7 | g.42048587G>T | CA367333215 | GLI3 | c.583C>A (p.Pro195Thr) c.406C>A (p.Pro136Thr) n.560C>A c.580C>A (p.Pro194Thr) | |
7 | g.42048588A>C | CA367333216 | GLI3 | c.582T>G (p.His194Gln) c.405T>G (p.His135Gln) n.559T>G c.579T>G (p.His193Gln) | |
7 | g.42048588A>G | CA454537613 | GLI3 | c.582T>C (p.His194=) c.405T>C (p.His135=) n.559T>C c.579T>C (p.His193=) | |
7 | g.42048588A>T | CA367333217 | GLI3 | c.582T>A (p.His194Gln) c.405T>A (p.His135Gln) n.559T>A c.579T>A (p.His193Gln) | |
7 | g.42048589T>A | CA367333222 | GLI3 | c.581A>T (p.His194Leu) c.404A>T (p.His135Leu) n.558A>T c.578A>T (p.His193Leu) | |
7 | g.42048589T>C | CA367333220 | GLI3 | c.581A>G (p.His194Arg) c.404A>G (p.His135Arg) n.558A>G c.578A>G (p.His193Arg) | |
7 | g.42048589T>G | CA367333218 | GLI3 | c.581A>C (p.His194Pro) c.404A>C (p.His135Pro) n.558A>C c.578A>C (p.His193Pro) | |
7 | g.42048590G>A | CA367333224 | GLI3 | c.580C>T (p.His194Tyr) c.403C>T (p.His135Tyr) n.557C>T c.577C>T (p.His193Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42048590G>C | CA367333226 | GLI3 | c.580C>G (p.His194Asp) c.403C>G (p.His135Asp) n.557C>G c.577C>G (p.His193Asp) | |
7 | g.42048590G= | CA1702698942 | GLI3 | c.580C= (p.His194=) c.403C= (p.His135=) n.557C= c.577C= (p.His193=) | |
7 | g.42048590G>T | CA367333228 | GLI3 | c.580C>A (p.His194Asn) c.403C>A (p.His135Asn) n.557C>A c.577C>A (p.His193Asn) | |
7 | g.42048591T>A | CA454537614 | GLI3 | c.579A>T (p.Pro193=) c.402A>T (p.Pro134=) n.556A>T c.576A>T (p.Pro192=) | |
7 | g.42048591T>C | CA454537615 | GLI3 | c.579A>G (p.Pro193=) c.402A>G (p.Pro134=) n.556A>G c.576A>G (p.Pro192=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42048591T>G | CA454537616 | GLI3 | c.579A>C (p.Pro193=) c.402A>C (p.Pro134=) n.556A>C c.576A>C (p.Pro192=) | gnomAD v3 gnomAD v4 |
7 | g.42048591T= | CA1702698946 | GLI3 | c.579A= (p.Pro193=) c.402A= (p.Pro134=) n.556A= c.576A= (p.Pro192=) | |
7 | g.42048592G>A | CA367333231 | GLI3 | c.578C>T (p.Pro193Leu) c.401C>T (p.Pro134Leu) n.555C>T c.575C>T (p.Pro192Leu) | |
7 | g.42048592G>C | CA367333233 | GLI3 | c.578C>G (p.Pro193Arg) c.401C>G (p.Pro134Arg) n.555C>G c.575C>G (p.Pro192Arg) | |
7 | g.42048592G>T | CA367333235 | GLI3 | c.578C>A (p.Pro193Gln) c.401C>A (p.Pro134Gln) n.555C>A c.575C>A (p.Pro192Gln) | |
7 | g.42048593G>A | CA367333238 | GLI3 | c.577C>T (p.Pro193Ser) c.400C>T (p.Pro134Ser) n.554C>T c.574C>T (p.Pro192Ser) | |
7 | g.42048593G>C | CA367333239 | GLI3 | c.577C>G (p.Pro193Ala) c.400C>G (p.Pro134Ala) n.554C>G c.574C>G (p.Pro192Ala) | gnomAD v4 |
7 | g.42048593G>T | CA367333241 | GLI3 | c.577C>A (p.Pro193Thr) c.400C>A (p.Pro134Thr) n.554C>A c.574C>A (p.Pro192Thr) | |
7 | g.42048594A= | CA1702698951 | GLI3 | c.576T= (p.Pro192=) c.399T= (p.Pro133=) n.553T= c.573T= (p.Pro191=) | |
7 | g.42048594A>C | CA454537617 | GLI3 | c.576T>G (p.Pro192=) c.399T>G (p.Pro133=) n.553T>G c.573T>G (p.Pro191=) | |
7 | g.42048594A>G | CA454537618 | GLI3 | c.576T>C (p.Pro192=) c.399T>C (p.Pro133=) n.553T>C c.573T>C (p.Pro191=) | |
7 | g.42048594A>T | CA156915740 | GLI3 | c.576T>A (p.Pro192=) c.399T>A (p.Pro133=) n.553T>A c.573T>A (p.Pro191=) | dbSNP |
7 | g.42048595G>A | CA4231141 | GLI3 | c.575C>T (p.Pro192Leu) c.398C>T (p.Pro133Leu) n.552C>T c.572C>T (p.Pro191Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42048595G>C | CA367333244 | GLI3 | c.575C>G (p.Pro192Arg) c.398C>G (p.Pro133Arg) n.552C>G c.572C>G (p.Pro191Arg) | |
7 | g.42048595G= | CA1702698954 | GLI3 | c.575C= (p.Pro192=) c.398C= (p.Pro133=) n.552C= c.572C= (p.Pro191=) | |
7 | g.42048595G>T | CA367333246 | GLI3 | c.575C>A (p.Pro192His) c.398C>A (p.Pro133His) n.552C>A c.572C>A (p.Pro191His) | COSMIC |
7 | g.42048596G>A | CA367333252 | GLI3 | c.574C>T (p.Pro192Ser) c.397C>T (p.Pro133Ser) n.551C>T c.571C>T (p.Pro191Ser) | |
7 | g.42048596G>C | CA367333250 | GLI3 | c.574C>G (p.Pro192Ala) c.397C>G (p.Pro133Ala) n.551C>G c.571C>G (p.Pro191Ala) | |
7 | g.42048596G>T | CA367333248 | GLI3 | c.574C>A (p.Pro192Thr) c.397C>A (p.Pro133Thr) n.551C>A c.571C>A (p.Pro191Thr) | |
7 | g.42048597G>A | CA454537619 | GLI3 | c.573C>T (p.Ser191=) c.396C>T (p.Ser132=) n.550C>T c.570C>T (p.Ser190=) | dbSNP gnomAD v4 |
7 | g.42048597G>C | CA367333254 | GLI3 | c.573C>G (p.Ser191Arg) c.396C>G (p.Ser132Arg) n.550C>G c.570C>G (p.Ser190Arg) | |
7 | g.42048597G= | CA1702698957 | GLI3 | c.573C= (p.Ser191=) c.396C= (p.Ser132=) n.550C= c.570C= (p.Ser190=) | |
7 | g.42048597G>T | CA367333256 | GLI3 | c.573C>A (p.Ser191Arg) c.396C>A (p.Ser132Arg) n.550C>A c.570C>A (p.Ser190Arg) | |
7 | g.42048598C>A | CA367333259 | GLI3 | c.572G>T (p.Ser191Ile) c.395G>T (p.Ser132Ile) n.549G>T c.569G>T (p.Ser190Ile) | gnomAD v4 |
7 | g.42048598C>G | CA367333263 | GLI3 | c.572G>C (p.Ser191Thr) c.395G>C (p.Ser132Thr) n.549G>C c.569G>C (p.Ser190Thr) | |
7 | g.42048598C>T | CA367333261 | GLI3 | c.572G>A (p.Ser191Asn) c.395G>A (p.Ser132Asn) n.549G>A c.569G>A (p.Ser190Asn) | COSMIC |
7 | g.42048599T>A | CA367333266 | GLI3 | c.571A>T (p.Ser191Cys) c.394A>T (p.Ser132Cys) n.548A>T c.568A>T (p.Ser190Cys) | |
7 | g.42048599T>C | CA367333268 | GLI3 | c.571A>G (p.Ser191Gly) c.394A>G (p.Ser132Gly) n.548A>G c.568A>G (p.Ser190Gly) | gnomAD v4 |
7 | g.42048599T>G | CA367333269 | GLI3 | c.571A>C (p.Ser191Arg) c.394A>C (p.Ser132Arg) n.548A>C c.568A>C (p.Ser190Arg) | |
7 | g.42048600G>A | CA454537620 | GLI3 | c.570C>T (p.Phe190=) c.393C>T (p.Phe131=) n.547C>T c.567C>T (p.Phe189=) | |
7 | g.42048600G>C | CA367333272 | GLI3 | c.570C>G (p.Phe190Leu) c.393C>G (p.Phe131Leu) n.547C>G c.567C>G (p.Phe189Leu) | |
7 | g.42048600G>T | CA367333274 | GLI3 | c.570C>A (p.Phe190Leu) c.393C>A (p.Phe131Leu) n.547C>A c.567C>A (p.Phe189Leu) | |
7 | g.42048601A= | CA1702698959 | GLI3 | c.569T= (p.Phe190=) c.392T= (p.Phe131=) n.546T= c.566T= (p.Phe189=) | |
7 | g.42048601A>C | CA367333276 | GLI3 | c.569T>G (p.Phe190Cys) c.392T>G (p.Phe131Cys) n.546T>G c.566T>G (p.Phe189Cys) | dbSNP gnomAD v4 |
7 | g.42048601A>G | CA367333278 | GLI3 | c.569T>C (p.Phe190Ser) c.392T>C (p.Phe131Ser) n.546T>C c.566T>C (p.Phe189Ser) | |
7 | g.42048601A>T | CA367333279 | GLI3 | c.569T>A (p.Phe190Tyr) c.392T>A (p.Phe131Tyr) n.546T>A c.566T>A (p.Phe189Tyr) | |
7 | g.42048602A>C | CA367333280 | GLI3 | c.568T>G (p.Phe190Val) c.391T>G (p.Phe131Val) n.545T>G c.565T>G (p.Phe189Val) | |
7 | g.42048602A>G | CA367333284 | GLI3 | c.568T>C (p.Phe190Leu) c.391T>C (p.Phe131Leu) n.545T>C c.565T>C (p.Phe189Leu) | gnomAD v4 |
7 | g.42048602A>T | CA367333282 | GLI3 | c.568T>A (p.Phe190Ile) c.391T>A (p.Phe131Ile) n.545T>A c.565T>A (p.Phe189Ile) | |
7 | g.42048603G>A | CA4231142 | GLI3 | c.567C>T (p.Pro189=) c.390C>T (p.Pro130=) n.544C>T c.564C>T (p.Pro188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42048603G>C | CA454537622 | GLI3 | c.567C>G (p.Pro189=) c.390C>G (p.Pro130=) n.544C>G c.564C>G (p.Pro188=) | |
7 | g.42048603G= | CA1702698961 | GLI3 | c.567C= (p.Pro189=) c.390C= (p.Pro130=) n.544C= c.564C= (p.Pro188=) | |
7 | g.42048603G>T | CA454537621 | GLI3 | c.567C>A (p.Pro189=) c.390C>A (p.Pro130=) n.544C>A c.564C>A (p.Pro188=) | |
7 | g.42048603_42048605delinsAGA | CA2695207677 | GLI3 | c.565_567delinsTCT (p.Pro189Ser) c.388_390delinsTCT (p.Pro130Ser) n.542_544delinsTCT c.562_564delinsTCT (p.Pro188Ser) | |
7 | g.42048604G>A | CA4231143 | GLI3 | c.566C>T (p.Pro189Leu) c.389C>T (p.Pro130Leu) n.543C>T c.563C>T (p.Pro188Leu) | dbSNP ExAC gnomAD v2 |
7 | g.42048604G>C | CA367333289 | GLI3 | c.566C>G (p.Pro189Arg) c.389C>G (p.Pro130Arg) n.543C>G c.563C>G (p.Pro188Arg) | |
7 | g.42048604G= | CA1702698965 | GLI3 | c.566C= (p.Pro189=) c.389C= (p.Pro130=) n.543C= c.563C= (p.Pro188=) | |
7 | g.42048604G>T | CA367333291 | GLI3 | c.566C>A (p.Pro189His) c.389C>A (p.Pro130His) n.543C>A c.563C>A (p.Pro188His) | |
7 | g.42048605G>A | CA4231144 | GLI3 | c.565C>T (p.Pro189Ser) c.388C>T (p.Pro130Ser) n.542C>T c.562C>T (p.Pro188Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42048605G>C | CA367333298 | GLI3 | c.565C>G (p.Pro189Ala) c.388C>G (p.Pro130Ala) n.542C>G c.562C>G (p.Pro188Ala) | |
7 | g.42048605G= | CA1702698971 | GLI3 | c.565C= (p.Pro189=) c.388C= (p.Pro130=) n.542C= c.562C= (p.Pro188=) | |
7 | g.42048605G>T | CA367333295 | GLI3 | c.565C>A (p.Pro189Thr) c.388C>A (p.Pro130Thr) n.542C>A c.562C>A (p.Pro188Thr) | |
7 | g.42048606A>C | CA454537623 | GLI3 | c.564T>G (p.Ser188=) c.387T>G (p.Ser129=) n.541T>G c.561T>G (p.Ser187=) | |
7 | g.42048606A>G | CA454537624 | GLI3 | c.564T>C (p.Ser188=) c.387T>C (p.Ser129=) n.541T>C c.561T>C (p.Ser187=) | |
7 | g.42048606A>T | CA454537625 | GLI3 | c.564T>A (p.Ser188=) c.387T>A (p.Ser129=) n.541T>A c.561T>A (p.Ser187=) | |
7 | g.42048607G>A | CA4231146 | GLI3 | c.563C>T (p.Ser188Phe) c.386C>T (p.Ser129Phe) n.540C>T c.560C>T (p.Ser187Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.42048607G>C | CA367333301 | GLI3 | c.563C>G (p.Ser188Cys) c.386C>G (p.Ser129Cys) n.540C>G c.560C>G (p.Ser187Cys) | |
7 | g.42048607G= | CA1702698980 | GLI3 | c.563C= (p.Ser188=) c.386C= (p.Ser129=) n.540C= c.560C= (p.Ser187=) | |
7 | g.42048607G>T | CA4231145 | GLI3 | c.563C>A (p.Ser188Tyr) c.386C>A (p.Ser129Tyr) n.540C>A c.560C>A (p.Ser187Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42048608A= | CA1702698990 | GLI3 | c.562T= (p.Ser188=) c.385T= (p.Ser129=) n.539T= c.559T= (p.Ser187=) | |
7 | g.42048608A>C | CA367333305 | GLI3 | c.562T>G (p.Ser188Ala) c.385T>G (p.Ser129Ala) n.539T>G c.559T>G (p.Ser187Ala) | dbSNP |
7 | g.42048608A>G | CA367333306 | GLI3 | c.562T>C (p.Ser188Pro) c.385T>C (p.Ser129Pro) n.539T>C c.559T>C (p.Ser187Pro) | gnomAD v4 |
7 | g.42048608A>T | CA367333309 | GLI3 | c.562T>A (p.Ser188Thr) c.385T>A (p.Ser129Thr) n.539T>A c.559T>A (p.Ser187Thr) | |
7 | g.42048609C>A | CA367333311 | GLI3 | c.561G>T (p.Glu187Asp) c.384G>T (p.Glu128Asp) n.538G>T c.558G>T (p.Glu186Asp) | |
7 | g.42048609C>G | CA367333313 | GLI3 | c.561G>C (p.Glu187Asp) c.384G>C (p.Glu128Asp) n.538G>C c.558G>C (p.Glu186Asp) | |
7 | g.42048609C>T | CA454537626 | GLI3 | c.561G>A (p.Glu187=) c.384G>A (p.Glu128=) n.538G>A c.558G>A (p.Glu186=) | |
7 | g.42048610T>A | CA367333316 | GLI3 | c.560A>T (p.Glu187Val) c.383A>T (p.Glu128Val) n.537A>T c.557A>T (p.Glu186Val) | |
7 | g.42048610T>C | CA367333317 | GLI3 | c.560A>G (p.Glu187Gly) c.383A>G (p.Glu128Gly) n.537A>G c.557A>G (p.Glu186Gly) | |
7 | g.42048610T>G | CA367333319 | GLI3 | c.560A>C (p.Glu187Ala) c.383A>C (p.Glu128Ala) n.537A>C c.557A>C (p.Glu186Ala) | |
7 | g.42048611C>A | CA367333321 | GLI3 | c.559G>T (p.Glu187Ter) c.382G>T (p.Glu128Ter) n.536G>T c.556G>T (p.Glu186Ter) | |
7 | g.42048611C= | CA1702698992 | GLI3 | c.559G= (p.Glu187=) c.382G= (p.Glu128=) n.536G= c.556G= (p.Glu186=) | |
7 | g.42048611C>G | CA367333325 | GLI3 | c.559G>C (p.Glu187Gln) c.382G>C (p.Glu128Gln) n.536G>C c.556G>C (p.Glu186Gln) | |
7 | g.42048611C>T | CA367333323 | GLI3 | c.559G>A (p.Glu187Lys) c.382G>A (p.Glu128Lys) n.536G>A c.556G>A (p.Glu186Lys) | dbSNP gnomAD v4 |
7 | g.42048612G>A | CA4231147 | GLI3 | c.558C>T (p.Ser186=) c.381C>T (p.Ser127=) n.535C>T c.555C>T (p.Ser185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42048612G>C | CA454537627 | GLI3 | c.558C>G (p.Ser186=) c.381C>G (p.Ser127=) n.535C>G c.555C>G (p.Ser185=) | |
7 | g.42048612G= | CA1702698996 | GLI3 | c.558C= (p.Ser186=) c.381C= (p.Ser127=) n.535C= c.555C= (p.Ser185=) | |
7 | g.42048612G>T | CA454537628 | GLI3 | c.558C>A (p.Ser186=) c.381C>A (p.Ser127=) n.535C>A c.555C>A (p.Ser185=) | |
7 | g.42048613del | CA2740097353 | GLI3 | c.558del (p.Glu187SerfsTer29) c.381del (p.Glu128SerfsTer29) n.535del c.555del (p.Glu186SerfsTer29) | ClinVar |
7 | g.42048613G>A | CA367333330 | GLI3 | c.557C>T (p.Ser186Phe) c.380C>T (p.Ser127Phe) n.534C>T c.554C>T (p.Ser185Phe) | dbSNP |
7 | g.42048613G>C | CA367333331 | GLI3 | c.557C>G (p.Ser186Cys) c.380C>G (p.Ser127Cys) n.534C>G c.554C>G (p.Ser185Cys) | gnomAD v4 |
7 | g.42048613G= | CA1702698999 | GLI3 | c.557C= (p.Ser186=) c.380C= (p.Ser127=) n.534C= c.554C= (p.Ser185=) | |
7 | g.42048613G>T | CA367333333 | GLI3 | c.557C>A (p.Ser186Tyr) c.380C>A (p.Ser127Tyr) n.534C>A c.554C>A (p.Ser185Tyr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.42048614A>C | CA367333335 | GLI3 | c.556T>G (p.Ser186Ala) c.379T>G (p.Ser127Ala) n.533T>G c.553T>G (p.Ser185Ala) | |
7 | g.42048614A>G | CA367333338 | GLI3 | c.556T>C (p.Ser186Pro) c.379T>C (p.Ser127Pro) n.533T>C c.553T>C (p.Ser185Pro) | |
7 | g.42048614A>T | CA367333339 | GLI3 | c.556T>A (p.Ser186Thr) c.379T>A (p.Ser127Thr) n.533T>A c.553T>A (p.Ser185Thr) | |
7 | g.42048615A>C | CA454537629 | GLI3 | c.555T>G (p.Ala185=) c.378T>G (p.Ala126=) n.532T>G c.552T>G (p.Ala184=) | |
7 | g.42048615A>G | CA454537630 | GLI3 | c.555T>C (p.Ala185=) c.378T>C (p.Ala126=) n.532T>C c.552T>C (p.Ala184=) | |
7 | g.42048615A>T | CA454537631 | GLI3 | c.555T>A (p.Ala185=) c.378T>A (p.Ala126=) n.532T>A c.552T>A (p.Ala184=) | |
7 | g.42048615_42048616insCCCC | CA2682512070 | GLI3 | c.554_555insGGGG (p.Ser186GlyfsTer14) c.377_378insGGGG (p.Ser127GlyfsTer14) n.531_532insGGGG c.551_552insGGGG (p.Ser185GlyfsTer14) | gnomAD v4 |
7 | g.42048616G>A | CA367333342 | GLI3 | c.554C>T (p.Ala185Val) c.377C>T (p.Ala126Val) n.531C>T c.551C>T (p.Ala184Val) | |
7 | g.42048616G>C | CA367333344 | GLI3 | c.554C>G (p.Ala185Gly) c.377C>G (p.Ala126Gly) n.531C>G c.551C>G (p.Ala184Gly) | |
7 | g.42048616G>T | CA367333345 | GLI3 | c.554C>A (p.Ala185Asp) c.377C>A (p.Ala126Asp) n.531C>A c.551C>A (p.Ala184Asp) | COSMIC |
7 | g.42048617C>A | CA367333348 | GLI3 | c.553G>T (p.Ala185Ser) c.376G>T (p.Ala126Ser) n.530G>T c.550G>T (p.Ala184Ser) | COSMIC |
7 | g.42048617C>G | CA367333350 | GLI3 | c.553G>C (p.Ala185Pro) c.376G>C (p.Ala126Pro) n.530G>C c.550G>C (p.Ala184Pro) | |
7 | g.42048617C>T | CA367333352 | GLI3 | c.553G>A (p.Ala185Thr) c.376G>A (p.Ala126Thr) n.530G>A c.550G>A (p.Ala184Thr) | |
7 | g.42048617_42048618insTGCTGCTTCCG | CA2682512071 | GLI3 | c.552_553insCGGAAGCAGCA (p.Ala185ArgfsTer?) c.375_376insCGGAAGCAGCA (p.Ala126ArgfsTer?) n.529_530insCGGAAGCAGCA c.549_550insCGGAAGCAGCA (p.Ala184ArgfsTer?) | gnomAD v4 |
7 | g.42048618A>C | CA454537632 | GLI3 | c.552T>G (p.Ala184=) c.375T>G (p.Ala125=) n.529T>G c.549T>G (p.Ala183=) | |
7 | g.42048618A>G | CA454537633 | GLI3 | c.552T>C (p.Ala184=) c.375T>C (p.Ala125=) n.529T>C c.549T>C (p.Ala183=) | |
7 | g.42048618A>T | CA454537634 | GLI3 | c.552T>A (p.Ala184=) c.375T>A (p.Ala125=) n.529T>A c.549T>A (p.Ala183=) | |
7 | g.42048619G>A | CA367333354 | GLI3 | c.551C>T (p.Ala184Val) c.374C>T (p.Ala125Val) n.528C>T c.548C>T (p.Ala183Val) | |
7 | g.42048619G>C | CA367333359 | GLI3 | c.551C>G (p.Ala184Gly) c.374C>G (p.Ala125Gly) n.528C>G c.548C>G (p.Ala183Gly) | |
7 | g.42048619G>T | CA367333357 | GLI3 | c.551C>A (p.Ala184Asp) c.374C>A (p.Ala125Asp) n.528C>A c.548C>A (p.Ala183Asp) | gnomAD v4 |
7 | g.42048620C>A | CA367333361 | GLI3 | c.550G>T (p.Ala184Ser) c.373G>T (p.Ala125Ser) n.527G>T c.547G>T (p.Ala183Ser) | |
7 | g.42048620C>G | CA367333363 | GLI3 | c.550G>C (p.Ala184Pro) c.373G>C (p.Ala125Pro) n.527G>C c.547G>C (p.Ala183Pro) | |
7 | g.42048620C>T | CA367333365 | GLI3 | c.550G>A (p.Ala184Thr) c.373G>A (p.Ala125Thr) n.527G>A c.547G>A (p.Ala183Thr) | |
7 | g.42048621A>C | CA454537635 | GLI3 | c.549T>G (p.Thr183=) c.372T>G (p.Thr124=) n.526T>G c.546T>G (p.Thr182=) | |
7 | g.42048621A>G | CA454537636 | GLI3 | c.549T>C (p.Thr183=) c.372T>C (p.Thr124=) n.526T>C c.546T>C (p.Thr182=) | |
7 | g.42048621A>T | CA454537637 | GLI3 | c.549T>A (p.Thr183=) c.372T>A (p.Thr124=) n.526T>A c.546T>A (p.Thr182=) | |
7 | g.42048622del | CA2580077123 | GLI3 | c.548del (p.Thr183MetfsTer?) c.371del (p.Thr124MetfsTer?) n.525del c.545del (p.Thr182MetfsTer?) | ClinVar |
7 | g.42048622G>A | CA367333369 | GLI3 | c.548C>T (p.Thr183Ile) c.371C>T (p.Thr124Ile) n.525C>T c.545C>T (p.Thr182Ile) | |
7 | g.42048622G>C | CA367333370 | GLI3 | c.548C>G (p.Thr183Ser) c.371C>G (p.Thr124Ser) n.525C>G c.545C>G (p.Thr182Ser) | dbSNP |
7 | g.42048622G= | CA1702699002 | GLI3 | c.548C= (p.Thr183=) c.371C= (p.Thr124=) n.525C= c.545C= (p.Thr182=) | |
7 | g.42048622G>T | CA367333371 | GLI3 | c.548C>A (p.Thr183Asn) c.371C>A (p.Thr124Asn) n.525C>A c.545C>A (p.Thr182Asn) | |
7 | g.42048623T>A | CA367333373 | GLI3 | c.547A>T (p.Thr183Ser) c.370A>T (p.Thr124Ser) n.524A>T c.544A>T (p.Thr182Ser) | |
7 | g.42048623T>C | CA4231148 | GLI3 | c.547A>G (p.Thr183Ala) c.370A>G (p.Thr124Ala) n.524A>G c.544A>G (p.Thr182Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42048623T>G | CA367333376 | GLI3 | c.547A>C (p.Thr183Pro) c.370A>C (p.Thr124Pro) n.524A>C c.544A>C (p.Thr182Pro) | gnomAD v4 |
7 | g.42048623T= | CA1630834744 | GLI3 | c.547A= (p.Thr183=) c.370A= (p.Thr124=) n.524A= c.544A= (p.Thr182=) | |
7 | g.42048623_42048630del | CA2695207678 | GLI3 | c.540_547del (p.Asn181CysfsTer15) c.363_370del (p.Asn122CysfsTer15) n.517_524del c.537_544del (p.Asn180CysfsTer15) | |
7 | g.42048624G>A | CA156915781 | GLI3 | c.546C>T (p.Pro182=) c.369C>T (p.Pro123=) n.523C>T c.543C>T (p.Pro181=) | dbSNP gnomAD v4 COSMIC |
7 | g.42048624G>C | CA454537639 | GLI3 | c.546C>G (p.Pro182=) c.369C>G (p.Pro123=) n.523C>G c.543C>G (p.Pro181=) | |
7 | g.42048624G= | CA1702699007 | GLI3 | c.546C= (p.Pro182=) c.369C= (p.Pro123=) n.523C= c.543C= (p.Pro181=) | |
7 | g.42048624G>T | CA454537638 | GLI3 | c.546C>A (p.Pro182=) c.369C>A (p.Pro123=) n.523C>A c.543C>A (p.Pro181=) | ClinVar dbSNP |
7 | g.42048627del | CA2682512072 | GLI3 | c.546del (p.Thr183LeufsTer?) c.369del (p.Thr124LeufsTer?) n.523del c.543del (p.Thr182LeufsTer?) | gnomAD v4 |
7 | g.42048625G>A | CA367333385 | GLI3 | c.545C>T (p.Pro182Leu) c.368C>T (p.Pro123Leu) n.522C>T c.542C>T (p.Pro181Leu) | |
7 | g.42048625G>C | CA367333383 | GLI3 | c.545C>G (p.Pro182Arg) c.368C>G (p.Pro123Arg) n.522C>G c.542C>G (p.Pro181Arg) | |
7 | g.42048625G>T | CA367333381 | GLI3 | c.545C>A (p.Pro182His) c.368C>A (p.Pro123His) n.522C>A c.542C>A (p.Pro181His) | |
7 | g.42048626G>A | CA156915789 | GLI3 | c.544C>T (p.Pro182Ser) c.367C>T (p.Pro123Ser) n.521C>T c.541C>T (p.Pro181Ser) | dbSNP |
7 | g.42048626G>C | CA367333390 | GLI3 | c.544C>G (p.Pro182Ala) c.367C>G (p.Pro123Ala) n.521C>G c.541C>G (p.Pro181Ala) | |
7 | g.42048626G= | CA1702699013 | GLI3 | c.544C= (p.Pro182=) c.367C= (p.Pro123=) n.521C= c.541C= (p.Pro181=) | |
7 | g.42048626G>T | CA367333388 | GLI3 | c.544C>A (p.Pro182Thr) c.367C>A (p.Pro123Thr) n.521C>A c.541C>A (p.Pro181Thr) | |
7 | g.42048627G>A | CA454537640 | GLI3 | c.543C>T (p.Asn181=) c.366C>T (p.Asn122=) n.520C>T c.540C>T (p.Asn180=) | dbSNP gnomAD v4 |
7 | g.42048627G>C | CA367333391 | GLI3 | c.543C>G (p.Asn181Lys) c.366C>G (p.Asn122Lys) n.520C>G c.540C>G (p.Asn180Lys) | |
7 | g.42048627G= | CA1702699018 | GLI3 | c.543C= (p.Asn181=) c.366C= (p.Asn122=) n.520C= c.540C= (p.Asn180=) | |
7 | g.42048627G>T | CA367333396 | GLI3 | c.543C>A (p.Asn181Lys) c.366C>A (p.Asn122Lys) n.520C>A c.540C>A (p.Asn180Lys) | |
7 | g.42048628T>A | CA367333399 | GLI3 | c.542A>T (p.Asn181Ile) c.365A>T (p.Asn122Ile) n.519A>T c.539A>T (p.Asn180Ile) | |
7 | g.42048628T>C | CA367333400 | GLI3 | c.542A>G (p.Asn181Ser) c.365A>G (p.Asn122Ser) n.519A>G c.539A>G (p.Asn180Ser) | gnomAD v4 |
7 | g.42048628T>G | CA367333402 | GLI3 | c.542A>C (p.Asn181Thr) c.365A>C (p.Asn122Thr) n.519A>C c.539A>C (p.Asn180Thr) | dbSNP |
7 | g.42048628T= | CA1702699020 | GLI3 | c.542A= (p.Asn181=) c.365A= (p.Asn122=) n.519A= c.539A= (p.Asn180=) | |
7 | g.42048629T>A | CA367333403 | GLI3 | c.541A>T (p.Asn181Tyr) c.364A>T (p.Asn122Tyr) n.518A>T c.538A>T (p.Asn180Tyr) | |
7 | g.42048629T>C | CA367333404 | GLI3 | c.541A>G (p.Asn181Asp) c.364A>G (p.Asn122Asp) n.518A>G c.538A>G (p.Asn180Asp) | |
7 | g.42048629T>G | CA367333405 | GLI3 | c.541A>C (p.Asn181His) c.364A>C (p.Asn122His) n.518A>C c.538A>C (p.Asn180His) | |
7 | g.42048630C>A | CA454537641 | GLI3 | c.540G>T (p.Arg180=) c.363G>T (p.Arg121=) n.517G>T c.537G>T (p.Arg179=) | |
7 | g.42048630C>G | CA454537642 | GLI3 | c.540G>C (p.Arg180=) c.363G>C (p.Arg121=) n.517G>C c.537G>C (p.Arg179=) | |
7 | g.42048630C>T | CA454537643 | GLI3 | c.540G>A (p.Arg180=) c.363G>A (p.Arg121=) n.517G>A c.537G>A (p.Arg179=) | |
7 | g.42048631C>A | CA367333406 | GLI3 | c.539G>T (p.Arg180Leu) c.362G>T (p.Arg121Leu) n.516G>T c.536G>T (p.Arg179Leu) | |
7 | g.42048631C= | CA1702699023 | GLI3 | c.539G= (p.Arg180=) c.362G= (p.Arg121=) n.516G= c.536G= (p.Arg179=) | |
7 | g.42048631C>G | CA367333408 | GLI3 | c.539G>C (p.Arg180Pro) c.362G>C (p.Arg121Pro) n.516G>C c.536G>C (p.Arg179Pro) | |
7 | g.42048631C>T | CA4231149 | GLI3 | c.539G>A (p.Arg180Gln) c.362G>A (p.Arg121Gln) n.516G>A c.536G>A (p.Arg179Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42048632G>A | CA4231150 | GLI3 | c.538C>T (p.Arg180Trp) c.361C>T (p.Arg121Trp) n.515C>T c.535C>T (p.Arg179Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42048632G>C | CA367333413 | GLI3 | c.538C>G (p.Arg180Gly) c.361C>G (p.Arg121Gly) n.515C>G c.535C>G (p.Arg179Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42048632G= | CA1702699028 | GLI3 | c.538C= (p.Arg180=) c.361C= (p.Arg121=) n.515C= c.535C= (p.Arg179=) | |
7 | g.42048632G>T | CA454537644 | GLI3 | c.538C>A (p.Arg180=) c.361C>A (p.Arg121=) n.515C>A c.535C>A (p.Arg179=) | |
7 | g.42048633G>A | CA4231151 | GLI3 | c.537C>T (p.His179=) c.360C>T (p.His120=) n.514C>T c.534C>T (p.His178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42048633G>C | CA367333417 | GLI3 | c.537C>G (p.His179Gln) c.360C>G (p.His120Gln) n.514C>G c.534C>G (p.His178Gln) | |
7 | g.42048633G= | CA1702699032 | GLI3 | c.537C= (p.His179=) c.360C= (p.His120=) n.514C= c.534C= (p.His178=) | |
7 | g.42048633G>T | CA367333419 | GLI3 | c.537C>A (p.His179Gln) c.360C>A (p.His120Gln) n.514C>A c.534C>A (p.His178Gln) | gnomAD v4 |
7 | g.42048634T>A | CA367333422 | GLI3 | c.536A>T (p.His179Leu) c.359A>T (p.His120Leu) n.513A>T c.533A>T (p.His178Leu) | gnomAD v3 gnomAD v4 |
7 | g.42048634T>C | CA367333424 | GLI3 | c.536A>G (p.His179Arg) c.359A>G (p.His120Arg) n.513A>G c.533A>G (p.His178Arg) | gnomAD v4 |
7 | g.42048634T>G | CA367333426 | GLI3 | c.536A>C (p.His179Pro) c.359A>C (p.His120Pro) n.513A>C c.533A>C (p.His178Pro) | gnomAD v4 |
7 | g.42048635G>A | CA367333428 | GLI3 | c.535C>T (p.His179Tyr) c.358C>T (p.His120Tyr) n.512C>T c.532C>T (p.His178Tyr) | gnomAD v4 |
7 | g.42048635G>C | CA367333430 | GLI3 | c.535C>G (p.His179Asp) c.358C>G (p.His120Asp) n.512C>G c.532C>G (p.His178Asp) | |
7 | g.42048635G>T | CA367333431 | GLI3 | c.535C>A (p.His179Asn) c.358C>A (p.His120Asn) n.512C>A c.532C>A (p.His178Asn) | |
7 | g.42048636T>A | CA454537645 | GLI3 | c.534A>T (p.Pro178=) c.357A>T (p.Pro119=) n.511A>T c.531A>T (p.Pro177=) | |
7 | g.42048636T>C | CA454537646 | GLI3 | c.534A>G (p.Pro178=) c.357A>G (p.Pro119=) n.511A>G c.531A>G (p.Pro177=) | |
7 | g.42048636T>G | CA454537647 | GLI3 | c.534A>C (p.Pro178=) c.357A>C (p.Pro119=) n.511A>C c.531A>C (p.Pro177=) | |
7 | g.42048637G>A | CA367333434 | GLI3 | c.533C>T (p.Pro178Leu) c.356C>T (p.Pro119Leu) n.510C>T c.530C>T (p.Pro177Leu) | |
7 | g.42048637G>C | CA367333436 | GLI3 | c.533C>G (p.Pro178Arg) c.356C>G (p.Pro119Arg) n.510C>G c.530C>G (p.Pro177Arg) | |
7 | g.42048637G>T | CA367333438 | GLI3 | c.533C>A (p.Pro178Gln) c.356C>A (p.Pro119Gln) n.510C>A c.530C>A (p.Pro177Gln) | gnomAD v4 |
7 | g.42048640dup | CA2580077124 | GLI3 | c.533dup (p.His179ThrfsTer20) c.356dup (p.His120ThrfsTer20) c.533dup (p.His179ThrfsTer?) n.510dup c.530dup (p.His178ThrfsTer20) | ClinVar |
7 | g.42048640del | CA2547864104 | GLI3 | c.533del (p.Pro178HisfsTer?) c.356del (p.Pro119HisfsTer?) n.510del c.530del (p.Pro177HisfsTer?) | |
7 | g.42048638G>A | CA367333443 | GLI3 | c.532C>T (p.Pro178Ser) c.355C>T (p.Pro119Ser) n.509C>T c.529C>T (p.Pro177Ser) | |
7 | g.42048638G>C | CA367333445 | GLI3 | c.532C>G (p.Pro178Ala) c.355C>G (p.Pro119Ala) n.509C>G c.529C>G (p.Pro177Ala) | |
7 | g.42048638G= | CA1702699035 | GLI3 | c.532C= (p.Pro178=) c.355C= (p.Pro119=) n.509C= c.529C= (p.Pro177=) | |
7 | g.42048638G>T | CA367333441 | GLI3 | c.532C>A (p.Pro178Thr) c.355C>A (p.Pro119Thr) n.509C>A c.529C>A (p.Pro177Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.42048639G>A | CA454537648 | GLI3 | c.531C>T (p.Ser177=) c.354C>T (p.Ser118=) n.508C>T c.528C>T (p.Ser176=) | |
7 | g.42048639G>C | CA454537649 | GLI3 | c.531C>G (p.Ser177=) c.354C>G (p.Ser118=) n.508C>G c.528C>G (p.Ser176=) | |
7 | g.42048639G>T | CA454537650 | GLI3 | c.531C>A (p.Ser177=) c.354C>A (p.Ser118=) n.508C>A c.528C>A (p.Ser176=) | |
7 | g.42048640G>A | CA367333447 | GLI3 | c.530C>T (p.Ser177Phe) c.353C>T (p.Ser118Phe) n.507C>T c.527C>T (p.Ser176Phe) | COSMIC |
7 | g.42048640G>C | CA367333450 | GLI3 | c.530C>G (p.Ser177Cys) c.353C>G (p.Ser118Cys) n.507C>G c.527C>G (p.Ser176Cys) | |
7 | g.42048640G>T | CA367333452 | GLI3 | c.530C>A (p.Ser177Tyr) c.353C>A (p.Ser118Tyr) n.507C>A c.527C>A (p.Ser176Tyr) | |
7 | g.42048641A>C | CA367333455 | GLI3 | c.529T>G (p.Ser177Ala) c.352T>G (p.Ser118Ala) n.506T>G c.526T>G (p.Ser176Ala) | gnomAD v4 |
7 | g.42048641A>G | CA367333457 | GLI3 | c.529T>C (p.Ser177Pro) c.352T>C (p.Ser118Pro) n.506T>C c.526T>C (p.Ser176Pro) | |
7 | g.42048641A>T | CA367333459 | GLI3 | c.529T>A (p.Ser177Thr) c.352T>A (p.Ser118Thr) n.506T>A c.526T>A (p.Ser176Thr) | |
7 | g.42048642G>A | CA4231152 | GLI3 | c.528C>T (p.Ile176=) c.351C>T (p.Ile117=) n.505C>T c.525C>T (p.Ile175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42048642G>C | CA10586994 | GLI3 | c.528C>G (p.Ile176Met) c.351C>G (p.Ile117Met) n.505C>G c.525C>G (p.Ile175Met) | ClinVar dbSNP |
7 | g.42048642G= | CA1702699037 | GLI3 | c.528C= (p.Ile176=) c.351C= (p.Ile117=) n.505C= c.525C= (p.Ile175=) | |
7 | g.42048642G>T | CA454537651 | GLI3 | c.528C>A (p.Ile176=) c.351C>A (p.Ile117=) n.505C>A c.525C>A (p.Ile175=) | |
7 | g.42048643A>C | CA367333466 | GLI3 | c.527T>G (p.Ile176Ser) c.350T>G (p.Ile117Ser) n.504T>G c.524T>G (p.Ile175Ser) | |
7 | g.42048643A>G | CA367333468 | GLI3 | c.527T>C (p.Ile176Thr) c.350T>C (p.Ile117Thr) n.504T>C c.524T>C (p.Ile175Thr) | |
7 | g.42048643A>T | CA367333470 | GLI3 | c.527T>A (p.Ile176Asn) c.350T>A (p.Ile117Asn) n.504T>A c.524T>A (p.Ile175Asn) | |
7 | g.42048644T>A | CA367333472 | GLI3 | c.526A>T (p.Ile176Phe) c.349A>T (p.Ile117Phe) n.503A>T c.523A>T (p.Ile175Phe) | |
7 | g.42048644T>C | CA367333474 | GLI3 | c.526A>G (p.Ile176Val) c.349A>G (p.Ile117Val) n.503A>G c.523A>G (p.Ile175Val) | COSMIC |
7 | g.42048644T>G | CA367333476 | GLI3 | c.526A>C (p.Ile176Leu) c.349A>C (p.Ile117Leu) n.503A>C c.523A>C (p.Ile175Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.42048644T= | CA1702699042 | GLI3 | c.526A= (p.Ile176=) c.349A= (p.Ile117=) n.503A= c.523A= (p.Ile175=) | |
7 | g.42048645C>A | CA367333478 | GLI3 | c.525G>T (p.Arg175Ser) c.348G>T (p.Arg116Ser) n.502G>T c.522G>T (p.Arg174Ser) | |
7 | g.42048645C>G | CA367333479 | GLI3 | c.525G>C (p.Arg175Ser) c.348G>C (p.Arg116Ser) n.502G>C c.522G>C (p.Arg174Ser) | gnomAD v4 |
7 | g.42048645C>T | CA454537652 | GLI3 | c.525G>A (p.Arg175=) c.348G>A (p.Arg116=) n.502G>A c.522G>A (p.Arg174=) | |
7 | g.42048646C>A | CA367333483 | GLI3 | c.524G>T (p.Arg175Met) c.347G>T (p.Arg116Met) n.501G>T c.521G>T (p.Arg174Met) | |
7 | g.42048646C>G | CA367333484 | GLI3 | c.524G>C (p.Arg175Thr) c.347G>C (p.Arg116Thr) n.501G>C c.521G>C (p.Arg174Thr) | |
7 | g.42048646C>T | CA367333486 | GLI3 | c.524G>A (p.Arg175Lys) c.347G>A (p.Arg116Lys) n.501G>A c.521G>A (p.Arg174Lys) | |
7 | g.42048647T>A | CA367333488 | GLI3 | c.523A>T (p.Arg175Trp) c.346A>T (p.Arg116Trp) n.500A>T c.520A>T (p.Arg174Trp) | |
7 | g.42048647T>C | CA367333490 | GLI3 | c.523A>G (p.Arg175Gly) c.346A>G (p.Arg116Gly) n.500A>G c.520A>G (p.Arg174Gly) | |
7 | g.42048647T>G | CA454537654 | GLI3 | c.523A>C (p.Arg175=) c.346A>C (p.Arg116=) n.500A>C c.520A>C (p.Arg174=) | |
7 | g.42048648A= | CA1702699045 | GLI3 | c.522T= (p.Ile174=) c.345T= (p.Ile115=) n.499T= c.519T= (p.Ile173=) | |
7 | g.42048648A>C | CA367333492 | GLI3 | c.522T>G (p.Ile174Met) c.345T>G (p.Ile115Met) n.499T>G c.519T>G (p.Ile173Met) | |
7 | g.42048648A>G | CA454537655 | GLI3 | c.522T>C (p.Ile174=) c.345T>C (p.Ile115=) n.499T>C c.519T>C (p.Ile173=) | ClinVar |
7 | g.42048648A>T | CA454537656 | GLI3 | c.522T>A (p.Ile174=) c.345T>A (p.Ile115=) n.499T>A c.519T>A (p.Ile173=) | |
7 | g.42048648_42048649insCAG | CA4231153 | GLI3 | c.521_522insCTG (p.Ile174_Arg175insCys) c.344_345insCTG (p.Ile115_Arg116insCys) n.498_499insCTG c.518_519insCTG (p.Ile173_Arg174insCys) | dbSNP ExAC |
7 | g.42048648_42048649insCAGATGGT | CA573911006 | GLI3 | c.521_522insACCATCTG (p.Arg175ProfsTer?) c.344_345insACCATCTG (p.Arg116ProfsTer?) n.498_499insACCATCTG c.518_519insACCATCTG (p.Arg174ProfsTer?) | dbSNP gnomAD v2 |
7 | g.42048649A= | CA1702699050 | GLI3 | c.521T= (p.Ile174=) c.344T= (p.Ile115=) n.498T= c.518T= (p.Ile173=) | |
7 | g.42048649A>C | CA367333497 | GLI3 | c.521T>G (p.Ile174Ser) c.344T>G (p.Ile115Ser) n.498T>G c.518T>G (p.Ile173Ser) | dbSNP |
7 | g.42048649A>G | CA367333499 | GLI3 | c.521T>C (p.Ile174Thr) c.344T>C (p.Ile115Thr) n.498T>C c.518T>C (p.Ile173Thr) | |
7 | g.42048649A>T | CA367333501 | GLI3 | c.521T>A (p.Ile174Asn) c.344T>A (p.Ile115Asn) n.498T>A c.518T>A (p.Ile173Asn) | |
7 | g.42048650T>A | CA367333504 | GLI3 | c.520A>T (p.Ile174Phe) c.343A>T (p.Ile115Phe) n.497A>T c.517A>T (p.Ile173Phe) | dbSNP gnomAD v4 |
7 | g.42048650T>C | CA367333506 | GLI3 | c.520A>G (p.Ile174Val) c.343A>G (p.Ile115Val) n.497A>G c.517A>G (p.Ile173Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42048650T>G | CA367333508 | GLI3 | c.520A>C (p.Ile174Leu) c.343A>C (p.Ile115Leu) n.497A>C c.517A>C (p.Ile173Leu) | |
7 | g.42048650T= | CA1702699053 | GLI3 | c.520A= (p.Ile174=) c.343A= (p.Ile115=) n.497A= c.517A= (p.Ile173=) | |
7 | g.42048651G>A | CA454537657 | GLI3 | c.519C>T (p.Phe173=) c.342C>T (p.Phe114=) n.496C>T c.516C>T (p.Phe172=) | COSMIC |
7 | g.42048651G>C | CA367333511 | GLI3 | c.519C>G (p.Phe173Leu) c.342C>G (p.Phe114Leu) n.496C>G c.516C>G (p.Phe172Leu) | |
7 | g.42048651G>T | CA367333512 | GLI3 | c.519C>A (p.Phe173Leu) c.342C>A (p.Phe114Leu) n.496C>A c.516C>A (p.Phe172Leu) | |
7 | g.42048652A= | CA1702699059 | GLI3 | c.518T= (p.Phe173=) c.341T= (p.Phe114=) n.495T= c.515T= (p.Phe172=) | |
7 | g.42048652A>C | CA367333515 | GLI3 | c.518T>G (p.Phe173Cys) c.341T>G (p.Phe114Cys) n.495T>G c.515T>G (p.Phe172Cys) | |
7 | g.42048652A>G | CA4231154 | GLI3 | c.518T>C (p.Phe173Ser) c.341T>C (p.Phe114Ser) n.495T>C c.515T>C (p.Phe172Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42048652A>T | CA367333518 | GLI3 | c.518T>A (p.Phe173Tyr) c.341T>A (p.Phe114Tyr) n.495T>A c.515T>A (p.Phe172Tyr) | |
7 | g.42048653dup | CA2695207679 | GLI3 | c.518dup (p.Ile174HisfsTer2) c.341dup (p.Ile115HisfsTer2) n.495dup c.515dup (p.Ile173HisfsTer2) | |
7 | g.42048653A>C | CA367333521 | GLI3 | c.517T>G (p.Phe173Val) c.340T>G (p.Phe114Val) n.494T>G c.514T>G (p.Phe172Val) | |
7 | g.42048653A>G | CA367333522 | GLI3 | c.517T>C (p.Phe173Leu) c.340T>C (p.Phe114Leu) n.494T>C c.514T>C (p.Phe172Leu) | |
7 | g.42048653A>T | CA367333523 | GLI3 | c.517T>A (p.Phe173Ile) c.340T>A (p.Phe114Ile) n.494T>A c.514T>A (p.Phe172Ile) | |
7 | g.42048654G>A | CA454537658 | GLI3 | c.516C>T (p.Pro172=) c.339C>T (p.Pro113=) n.493C>T c.513C>T (p.Pro171=) | |
7 | g.42048654G>C | CA454537659 | GLI3 | c.516C>G (p.Pro172=) c.339C>G (p.Pro113=) n.493C>G c.513C>G (p.Pro171=) | |
7 | g.42048654G= | CA1702699063 | GLI3 | c.516C= (p.Pro172=) c.339C= (p.Pro113=) n.493C= c.513C= (p.Pro171=) | |
7 | g.42048654G>T | CA156915813 | GLI3 | c.516C>A (p.Pro172=) c.339C>A (p.Pro113=) n.493C>A c.513C>A (p.Pro171=) | dbSNP |
7 | g.42048655G>A | CA367333526 | GLI3 | c.515C>T (p.Pro172Leu) c.338C>T (p.Pro113Leu) n.492C>T c.512C>T (p.Pro171Leu) | |
7 | g.42048655G>C | CA367333525 | GLI3 | c.515C>G (p.Pro172Arg) c.338C>G (p.Pro113Arg) n.492C>G c.512C>G (p.Pro171Arg) | |
7 | g.42048655G>T | CA367333524 | GLI3 | c.515C>A (p.Pro172His) c.338C>A (p.Pro113His) n.492C>A c.512C>A (p.Pro171His) | |
7 | g.42048656G>A | CA367333527 | GLI3 | c.514C>T (p.Pro172Ser) c.337C>T (p.Pro113Ser) n.491C>T c.511C>T (p.Pro171Ser) | |
7 | g.42048656G>C | CA367333528 | GLI3 | c.514C>G (p.Pro172Ala) c.337C>G (p.Pro113Ala) n.491C>G c.511C>G (p.Pro171Ala) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.42048656G= | CA1702699069 | GLI3 | c.514C= (p.Pro172=) c.337C= (p.Pro113=) n.491C= c.511C= (p.Pro171=) | |
7 | g.42048656G>T | CA367333529 | GLI3 | c.514C>A (p.Pro172Thr) c.337C>A (p.Pro113Thr) n.491C>A c.511C>A (p.Pro171Thr) | |
7 | g.42048657C>A | CA454537660 | GLI3 | c.513G>T (p.Leu171=) c.336G>T (p.Leu112=) n.490G>T c.510G>T (p.Leu170=) | |
7 | g.42048657C= | CA1702699073 | GLI3 | c.513G= (p.Leu171=) c.336G= (p.Leu112=) n.490G= c.510G= (p.Leu170=) | |
7 | g.42048657C>G | CA454537662 | GLI3 | c.513G>C (p.Leu171=) c.336G>C (p.Leu112=) n.490G>C c.510G>C (p.Leu170=) | |
7 | g.42048657C>T | CA454537661 | GLI3 | c.513G>A (p.Leu171=) c.336G>A (p.Leu112=) n.490G>A c.510G>A (p.Leu170=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.42048658A>C | CA367333530 | GLI3 | c.512T>G (p.Leu171Arg) c.335T>G (p.Leu112Arg) n.489T>G c.509T>G (p.Leu170Arg) | |
7 | g.42048658A>G | CA367333531 | GLI3 | c.512T>C (p.Leu171Pro) c.335T>C (p.Leu112Pro) n.489T>C c.509T>C (p.Leu170Pro) | |
7 | g.42048658A>T | CA367333532 | GLI3 | c.512T>A (p.Leu171Gln) c.335T>A (p.Leu112Gln) n.489T>A c.509T>A (p.Leu170Gln) | |
7 | g.42048659G>A | CA4231155 | GLI3 | c.511C>T (p.Leu171=) c.334C>T (p.Leu112=) n.488C>T c.508C>T (p.Leu170=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42048659G>C | CA367333534 | GLI3 | c.511C>G (p.Leu171Val) c.334C>G (p.Leu112Val) n.488C>G c.508C>G (p.Leu170Val) | |
7 | g.42048659G= | CA1702699077 | GLI3 | c.511C= (p.Leu171=) c.334C= (p.Leu112=) n.488C= c.508C= (p.Leu170=) | |
7 | g.42048659G>T | CA367333533 | GLI3 | c.511C>A (p.Leu171Met) c.334C>A (p.Leu112Met) n.488C>A c.508C>A (p.Leu170Met) | |
7 | g.42048660G>A | CA454537663 | GLI3 | c.510C>T (p.Asp170=) c.333C>T (p.Asp111=) n.487C>T c.507C>T (p.Asp169=) | |
7 | g.42048660G>C | CA367333535 | GLI3 | c.510C>G (p.Asp170Glu) c.333C>G (p.Asp111Glu) n.487C>G c.507C>G (p.Asp169Glu) | |
7 | g.42048660G>T | CA367333536 | GLI3 | c.510C>A (p.Asp170Glu) c.333C>A (p.Asp111Glu) n.487C>A c.507C>A (p.Asp169Glu) | |
7 | g.42048661T>A | CA367333537 | GLI3 | c.509A>T (p.Asp170Val) c.332A>T (p.Asp111Val) n.486A>T c.506A>T (p.Asp169Val) | |
7 | g.42048661T>C | CA367333538 | GLI3 | c.509A>G (p.Asp170Gly) c.332A>G (p.Asp111Gly) n.486A>G c.506A>G (p.Asp169Gly) | |
7 | g.42048661T>G | CA367333539 | GLI3 | c.509A>C (p.Asp170Ala) c.332A>C (p.Asp111Ala) n.486A>C c.506A>C (p.Asp169Ala) | |
7 | g.42048662C>A | CA156915825 | GLI3 | c.508G>T (p.Asp170Tyr) c.331G>T (p.Asp111Tyr) n.485G>T c.505G>T (p.Asp169Tyr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42048662C= | CA1702699080 | GLI3 | c.508G= (p.Asp170=) c.331G= (p.Asp111=) n.485G= c.505G= (p.Asp169=) | |
7 | g.42048662C>G | CA367333540 | GLI3 | c.508G>C (p.Asp170His) c.331G>C (p.Asp111His) n.485G>C c.505G>C (p.Asp169His) | ClinVar |
7 | g.42048662C>T | CA367333541 | GLI3 | c.508G>A (p.Asp170Asn) c.331G>A (p.Asp111Asn) n.485G>A c.505G>A (p.Asp169Asn) |