Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68409974G>A | CA381616384 | LRP5 | c.2152G>A (p.Asp718Asn) c.*758G>A (n.*758G>A) c.409G>A (p.Asp137Asn) c.2179G>A (p.Asp727Asn) n.2194G>A | |
11 | g.68409974G>C | CA381616382 | LRP5 | c.2152G>C (p.Asp718His) c.*758G>C (n.*758G>C) c.409G>C (p.Asp137His) c.2179G>C (p.Asp727His) n.2194G>C | |
11 | g.68409974G>T | CA381616383 | LRP5 | c.2152G>T (p.Asp718Tyr) c.*758G>T (n.*758G>T) c.409G>T (p.Asp137Tyr) c.2179G>T (p.Asp727Tyr) n.2194G>T | gnomAD v4 |
11 | g.68409975A>C | CA381616385 | LRP5 | c.2153A>C (p.Asp718Ala) c.*759A>C (n.*759A>C) c.410A>C (p.Asp137Ala) c.2180A>C (p.Asp727Ala) n.2195A>C | |
11 | g.68409975A>G | CA381616386 | LRP5 | c.2153A>G (p.Asp718Gly) c.*759A>G (n.*759A>G) c.410A>G (p.Asp137Gly) c.2180A>G (p.Asp727Gly) n.2195A>G | |
11 | g.68409975A>T | CA381616387 | LRP5 | c.2153A>T (p.Asp718Val) c.*759A>T (n.*759A>T) c.410A>T (p.Asp137Val) c.2180A>T (p.Asp727Val) n.2195A>T | |
11 | g.68409976C>A | CA381616388 | LRP5 | c.2154C>A (p.Asp718Glu) c.*760C>A (n.*760C>A) c.411C>A (p.Asp137Glu) c.2181C>A (p.Asp727Glu) n.2196C>A | |
11 | g.68409976C>G | CA381616389 | LRP5 | c.2154C>G (p.Asp718Glu) c.*760C>G (n.*760C>G) c.411C>G (p.Asp137Glu) c.2181C>G (p.Asp727Glu) n.2196C>G | |
11 | g.68409976C>T | CA475463056 | LRP5 | c.2154C>T (p.Asp718=) c.*760C>T (n.*760C>T) c.411C>T (p.Asp137=) c.2181C>T (p.Asp727=) n.2196C>T | |
11 | g.68409977T>A | CA381616390 | LRP5 | c.2155T>A (p.Tyr719Asn) c.*761T>A (n.*761T>A) c.412T>A (p.Tyr138Asn) c.2182T>A (p.Tyr728Asn) n.2197T>A | |
11 | g.68409977T>C | CA381616392 | LRP5 | c.2155T>C (p.Tyr719His) c.*761T>C (n.*761T>C) c.412T>C (p.Tyr138His) c.2182T>C (p.Tyr728His) n.2197T>C | |
11 | g.68409977T>G | CA381616391 | LRP5 | c.2155T>G (p.Tyr719Asp) c.*761T>G (n.*761T>G) c.412T>G (p.Tyr138Asp) c.2182T>G (p.Tyr728Asp) n.2197T>G | |
11 | g.68409978A= | CA1980594601 | LRP5 | c.2156A= (p.Tyr719=) c.*762A= (n.*762A=) c.413A= (p.Tyr138=) c.2183A= (p.Tyr728=) n.2198A= | |
11 | g.68409978A>C | CA381616393 | LRP5 | c.2156A>C (p.Tyr719Ser) c.*762A>C (n.*762A>C) c.413A>C (p.Tyr138Ser) c.2183A>C (p.Tyr728Ser) n.2198A>C | dbSNP |
11 | g.68409978A>G | CA6149551 | LRP5 | c.2156A>G (p.Tyr719Cys) c.*762A>G (n.*762A>G) c.413A>G (p.Tyr138Cys) c.2183A>G (p.Tyr728Cys) n.2198A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68409978A>T | CA381616394 | LRP5 | c.2156A>T (p.Tyr719Phe) c.*762A>T (n.*762A>T) c.413A>T (p.Tyr138Phe) c.2183A>T (p.Tyr728Phe) n.2198A>T | gnomAD v4 |
11 | g.68409979C>A | CA381616395 | LRP5 | c.2157C>A (p.Tyr719Ter) c.*763C>A (n.*763C>A) c.414C>A (p.Tyr138Ter) c.2184C>A (p.Tyr728Ter) n.2199C>A | gnomAD v4 |
11 | g.68409979C= | CA1980594604 | LRP5 | c.2157C= (p.Tyr719=) c.*763C= (n.*763C=) c.414C= (p.Tyr138=) c.2184C= (p.Tyr728=) n.2199C= | |
11 | g.68409979C>G | CA381616396 | LRP5 | c.2157C>G (p.Tyr719Ter) c.*763C>G (n.*763C>G) c.414C>G (p.Tyr138Ter) c.2184C>G (p.Tyr728Ter) n.2199C>G | dbSNP |
11 | g.68409979C>T | CA224270064 | LRP5 | c.2157C>T (p.Tyr719=) c.*763C>T (n.*763C>T) c.414C>T (p.Tyr138=) c.2184C>T (p.Tyr728=) n.2199C>T | dbSNP gnomAD v4 |
11 | g.68409980C>A | CA381616397 | LRP5 | c.2158C>A (p.Pro720Thr) c.*764C>A (n.*764C>A) c.415C>A (p.Pro139Thr) c.2185C>A (p.Pro729Thr) n.2200C>A | |
11 | g.68409980C>G | CA381616398 | LRP5 | c.2158C>G (p.Pro720Ala) c.*764C>G (n.*764C>G) c.415C>G (p.Pro139Ala) c.2185C>G (p.Pro729Ala) n.2200C>G | |
11 | g.68409980C>T | CA381616399 | LRP5 | c.2158C>T (p.Pro720Ser) c.*764C>T (n.*764C>T) c.415C>T (p.Pro139Ser) c.2185C>T (p.Pro729Ser) n.2200C>T | |
11 | g.68409981C>A | CA381616400 | LRP5 | c.2159C>A (p.Pro720His) c.*765C>A (n.*765C>A) c.416C>A (p.Pro139His) c.2186C>A (p.Pro729His) n.2201C>A | |
11 | g.68409981C>G | CA381616401 | LRP5 | c.2159C>G (p.Pro720Arg) c.*765C>G (n.*765C>G) c.416C>G (p.Pro139Arg) c.2186C>G (p.Pro729Arg) n.2201C>G | |
11 | g.68409981C>T | CA381616402 | LRP5 | c.2159C>T (p.Pro720Leu) c.*765C>T (n.*765C>T) c.416C>T (p.Pro139Leu) c.2186C>T (p.Pro729Leu) n.2201C>T | |
11 | g.68409982C>A | CA475463057 | LRP5 | c.2160C>A (p.Pro720=) c.*766C>A (n.*766C>A) c.417C>A (p.Pro139=) c.2187C>A (p.Pro729=) n.2202C>A | |
11 | g.68409982C= | CA1980594608 | LRP5 | c.2160C= (p.Pro720=) c.*766C= (n.*766C=) c.417C= (p.Pro139=) c.2187C= (p.Pro729=) n.2202C= | |
11 | g.68409982C>G | CA475463058 | LRP5 | c.2160C>G (p.Pro720=) c.*766C>G (n.*766C>G) c.417C>G (p.Pro139=) c.2187C>G (p.Pro729=) n.2202C>G | |
11 | g.68409982C>T | CA224270074 | LRP5 | c.2160C>T (p.Pro720=) c.*766C>T (n.*766C>T) c.417C>T (p.Pro139=) c.2187C>T (p.Pro729=) n.2202C>T | dbSNP gnomAD v4 |
11 | g.68409983G>A | CA381616404 | LRP5 | c.2161G>A (p.Glu721Lys) c.*767G>A (n.*767G>A) c.418G>A (p.Glu140Lys) c.2188G>A (p.Glu730Lys) n.2203G>A | COSMIC |
11 | g.68409983G>C | CA381616405 | LRP5 | c.2161G>C (p.Glu721Gln) c.*767G>C (n.*767G>C) c.418G>C (p.Glu140Gln) c.2188G>C (p.Glu730Gln) n.2203G>C | |
11 | g.68409983G>T | CA381616403 | LRP5 | c.2161G>T (p.Glu721Ter) c.*767G>T (n.*767G>T) c.418G>T (p.Glu140Ter) c.2188G>T (p.Glu730Ter) n.2203G>T | |
11 | g.68409984A>C | CA381616408 | LRP5 | c.2162A>C (p.Glu721Ala) c.*768A>C (n.*768A>C) c.419A>C (p.Glu140Ala) c.2189A>C (p.Glu730Ala) n.2204A>C | |
11 | g.68409984A>G | CA381616406 | LRP5 | c.2162A>G (p.Glu721Gly) c.*768A>G (n.*768A>G) c.419A>G (p.Glu140Gly) c.2189A>G (p.Glu730Gly) n.2204A>G | |
11 | g.68409984A>T | CA381616407 | LRP5 | c.2162A>T (p.Glu721Val) c.*768A>T (n.*768A>T) c.419A>T (p.Glu140Val) c.2189A>T (p.Glu730Val) n.2204A>T | |
11 | g.68409985G>A | CA475463059 | LRP5 | c.2163G>A (p.Glu721=) c.*769G>A (n.*769G>A) c.420G>A (p.Glu140=) c.2190G>A (p.Glu730=) n.2205G>A | |
11 | g.68409985G>C | CA381616409 | LRP5 | c.2163G>C (p.Glu721Asp) c.*769G>C (n.*769G>C) c.420G>C (p.Glu140Asp) c.2190G>C (p.Glu730Asp) n.2205G>C | |
11 | g.68409985G>T | CA381616410 | LRP5 | c.2163G>T (p.Glu721Asp) c.*769G>T (n.*769G>T) c.420G>T (p.Glu140Asp) c.2190G>T (p.Glu730Asp) n.2205G>T | |
11 | g.68409986G>A | CA381616411 | LRP5 | c.2164G>A (p.Gly722Ser) c.*770G>A (n.*770G>A) c.421G>A (p.Gly141Ser) c.2191G>A (p.Gly731Ser) n.2206G>A | |
11 | g.68409986G>C | CA381616412 | LRP5 | c.2164G>C (p.Gly722Arg) c.*770G>C (n.*770G>C) c.421G>C (p.Gly141Arg) c.2191G>C (p.Gly731Arg) n.2206G>C | dbSNP |
11 | g.68409986G>T | CA381616413 | LRP5 | c.2164G>T (p.Gly722Cys) c.*770G>T (n.*770G>T) c.421G>T (p.Gly141Cys) c.2191G>T (p.Gly731Cys) n.2206G>T | |
11 | g.68409987G>A | CA381616414 | LRP5 | c.2165G>A (p.Gly722Asp) c.*771G>A (n.*771G>A) c.422G>A (p.Gly141Asp) c.2192G>A (p.Gly731Asp) n.2207G>A | |
11 | g.68409987G>C | CA381616415 | LRP5 | c.2165G>C (p.Gly722Ala) c.*771G>C (n.*771G>C) c.422G>C (p.Gly141Ala) c.2192G>C (p.Gly731Ala) n.2207G>C | |
11 | g.68409987G= | CA1980594609 | LRP5 | c.2165G= (p.Gly722=) c.*771G= (n.*771G=) c.422G= (p.Gly141=) c.2192G= (p.Gly731=) n.2207G= | |
11 | g.68409987G>T | CA224270076 | LRP5 | c.2165G>T (p.Gly722Val) c.*771G>T (n.*771G>T) c.422G>T (p.Gly141Val) c.2192G>T (p.Gly731Val) n.2207G>T | dbSNP |
11 | g.68409988C>A | CA475463060 | LRP5 | c.2166C>A (p.Gly722=) c.*772C>A (n.*772C>A) c.423C>A (p.Gly141=) c.2193C>A (p.Gly731=) n.2208C>A | |
11 | g.68409988C>G | CA475463061 | LRP5 | c.2166C>G (p.Gly722=) c.*772C>G (n.*772C>G) c.423C>G (p.Gly141=) c.2193C>G (p.Gly731=) n.2208C>G | |
11 | g.68409988C>T | CA475463062 | LRP5 | c.2166C>T (p.Gly722=) c.*772C>T (n.*772C>T) c.423C>T (p.Gly141=) c.2193C>T (p.Gly731=) n.2208C>T | |
11 | g.68409989A= | CA1980594611 | LRP5 | c.2167A= (p.Met723=) c.*773A= (n.*773A=) c.424A= (p.Met142=) c.2194A= (p.Met732=) n.2209A= |