Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.745798G>A | CA397504240 | GEMIN4 | c.2245C>T (p.Pro749Ser) c.2212C>T (p.Pro738Ser) c.2257C>T (p.Pro753Ser) | dbSNP gnomAD v2 |
17 | g.745798G>C | CA8262451 | GEMIN4 | c.2245C>G (p.Pro749Ala) c.2212C>G (p.Pro738Ala) c.2257C>G (p.Pro753Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745798G= | CA2242474418 | GEMIN4 | c.2245C= (p.Pro749=) c.2212C= (p.Pro738=) c.2257C= (p.Pro753=) | |
17 | g.745798G>T | CA397504239 | GEMIN4 | c.2245C>A (p.Pro749Thr) c.2212C>A (p.Pro738Thr) c.2257C>A (p.Pro753Thr) | |
17 | g.745799G>A | CA497384396 | GEMIN4 | c.2244C>T (p.Ser748=) c.2211C>T (p.Ser737=) c.2256C>T (p.Ser752=) | dbSNP |
17 | g.745799G>C | CA497384397 | GEMIN4 | c.2244C>G (p.Ser748=) c.2211C>G (p.Ser737=) c.2256C>G (p.Ser752=) | |
17 | g.745799G= | CA2242474419 | GEMIN4 | c.2244C= (p.Ser748=) c.2211C= (p.Ser737=) c.2256C= (p.Ser752=) | |
17 | g.745799G>T | CA497384398 | GEMIN4 | c.2244C>A (p.Ser748=) c.2211C>A (p.Ser737=) c.2256C>A (p.Ser752=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745800G>A | CA397504241 | GEMIN4 | c.2243C>T (p.Ser748Phe) c.2210C>T (p.Ser737Phe) c.2255C>T (p.Ser752Phe) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745800G>C | CA397504242 | GEMIN4 | c.2243C>G (p.Ser748Cys) c.2210C>G (p.Ser737Cys) c.2255C>G (p.Ser752Cys) | gnomAD v4 |
17 | g.745800G= | CA2242474420 | GEMIN4 | c.2243C= (p.Ser748=) c.2210C= (p.Ser737=) c.2255C= (p.Ser752=) | |
17 | g.745800G>T | CA397504243 | GEMIN4 | c.2243C>A (p.Ser748Tyr) c.2210C>A (p.Ser737Tyr) c.2255C>A (p.Ser752Tyr) | |
17 | g.745801A>C | CA397504244 | GEMIN4 | c.2242T>G (p.Ser748Ala) c.2209T>G (p.Ser737Ala) c.2254T>G (p.Ser752Ala) | |
17 | g.745801A>G | CA397504245 | GEMIN4 | c.2242T>C (p.Ser748Pro) c.2209T>C (p.Ser737Pro) c.2254T>C (p.Ser752Pro) | |
17 | g.745801A>T | CA397504246 | GEMIN4 | c.2242T>A (p.Ser748Thr) c.2209T>A (p.Ser737Thr) c.2254T>A (p.Ser752Thr) | |
17 | g.745803_745805del | CA2635153094 | GEMIN4 | c.2240_2242del (p.Phe747del) c.2207_2209del (p.Phe736del) c.2252_2254del (p.Phe751del) | gnomAD v4 |
17 | g.745802G>A | CA497384402 | GEMIN4 | c.2241C>T (p.Phe747=) c.2208C>T (p.Phe736=) c.2253C>T (p.Phe751=) | |
17 | g.745802G>C | CA397504247 | GEMIN4 | c.2241C>G (p.Phe747Leu) c.2208C>G (p.Phe736Leu) c.2253C>G (p.Phe751Leu) | |
17 | g.745802G>T | CA397504248 | GEMIN4 | c.2241C>A (p.Phe747Leu) c.2208C>A (p.Phe736Leu) c.2253C>A (p.Phe751Leu) | |
17 | g.745803A>C | CA397504249 | GEMIN4 | c.2240T>G (p.Phe747Cys) c.2207T>G (p.Phe736Cys) c.2252T>G (p.Phe751Cys) | |
17 | g.745803A>G | CA397504250 | GEMIN4 | c.2240T>C (p.Phe747Ser) c.2207T>C (p.Phe736Ser) c.2252T>C (p.Phe751Ser) | |
17 | g.745803A>T | CA397504251 | GEMIN4 | c.2240T>A (p.Phe747Tyr) c.2207T>A (p.Phe736Tyr) c.2252T>A (p.Phe751Tyr) | |
17 | g.745804A= | CA2242474421 | GEMIN4 | c.2239T= (p.Phe747=) c.2206T= (p.Phe736=) c.2251T= (p.Phe751=) | |
17 | g.745804A>C | CA397504254 | GEMIN4 | c.2239T>G (p.Phe747Val) c.2206T>G (p.Phe736Val) c.2251T>G (p.Phe751Val) | |
17 | g.745804A>G | CA397504253 | GEMIN4 | c.2239T>C (p.Phe747Leu) c.2206T>C (p.Phe736Leu) c.2251T>C (p.Phe751Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745804A>T | CA397504252 | GEMIN4 | c.2239T>A (p.Phe747Ile) c.2206T>A (p.Phe736Ile) c.2251T>A (p.Phe751Ile) | gnomAD v4 |
17 | g.745805G>A | CA8262452 | GEMIN4 | c.2238C>T (p.Thr746=) c.2205C>T (p.Thr735=) c.2250C>T (p.Thr750=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745805G>C | CA497384407 | GEMIN4 | c.2238C>G (p.Thr746=) c.2205C>G (p.Thr735=) c.2250C>G (p.Thr750=) | |
17 | g.745805G= | CA2242474422 | GEMIN4 | c.2238C= (p.Thr746=) c.2205C= (p.Thr735=) c.2250C= (p.Thr750=) | |
17 | g.745805G>T | CA497384406 | GEMIN4 | c.2238C>A (p.Thr746=) c.2205C>A (p.Thr735=) c.2250C>A (p.Thr750=) | |
17 | g.745806G>A | CA397504255 | GEMIN4 | c.2237C>T (p.Thr746Ile) c.2204C>T (p.Thr735Ile) c.2249C>T (p.Thr750Ile) | gnomAD v4 |
17 | g.745806G>C | CA397504256 | GEMIN4 | c.2237C>G (p.Thr746Ser) c.2204C>G (p.Thr735Ser) c.2249C>G (p.Thr750Ser) | |
17 | g.745806G>T | CA397504257 | GEMIN4 | c.2237C>A (p.Thr746Asn) c.2204C>A (p.Thr735Asn) c.2249C>A (p.Thr750Asn) | gnomAD v4 |
17 | g.745807T>A | CA397504258 | GEMIN4 | c.2236A>T (p.Thr746Ser) c.2203A>T (p.Thr735Ser) c.2248A>T (p.Thr750Ser) | |
17 | g.745807T>C | CA397504259 | GEMIN4 | c.2236A>G (p.Thr746Ala) c.2203A>G (p.Thr735Ala) c.2248A>G (p.Thr750Ala) | |
17 | g.745807T>G | CA397504260 | GEMIN4 | c.2236A>C (p.Thr746Pro) c.2203A>C (p.Thr735Pro) c.2248A>C (p.Thr750Pro) | |
17 | g.745808C>A | CA397504261 | GEMIN4 | c.2235G>T (p.Glu745Asp) c.2202G>T (p.Glu734Asp) c.2247G>T (p.Glu749Asp) | |
17 | g.745808C= | CA2242474423 | GEMIN4 | c.2235G= (p.Glu745=) c.2202G= (p.Glu734=) c.2247G= (p.Glu749=) | |
17 | g.745808C>G | CA397504262 | GEMIN4 | c.2235G>C (p.Glu745Asp) c.2202G>C (p.Glu734Asp) c.2247G>C (p.Glu749Asp) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745808C>T | CA497384412 | GEMIN4 | c.2235G>A (p.Glu745=) c.2202G>A (p.Glu734=) c.2247G>A (p.Glu749=) | gnomAD v4 |
17 | g.745809T>A | CA397504263 | GEMIN4 | c.2234A>T (p.Glu745Val) c.2201A>T (p.Glu734Val) c.2246A>T (p.Glu749Val) | |
17 | g.745809T>C | CA397504264 | GEMIN4 | c.2234A>G (p.Glu745Gly) c.2201A>G (p.Glu734Gly) c.2246A>G (p.Glu749Gly) | |
17 | g.745809T>G | CA397504265 | GEMIN4 | c.2234A>C (p.Glu745Ala) c.2201A>C (p.Glu734Ala) c.2246A>C (p.Glu749Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745809T= | CA2242474424 | GEMIN4 | c.2234A= (p.Glu745=) c.2201A= (p.Glu734=) c.2246A= (p.Glu749=) | |
17 | g.745810C>A | CA397504267 | GEMIN4 | c.2233G>T (p.Glu745Ter) c.2200G>T (p.Glu734Ter) c.2245G>T (p.Glu749Ter) | |
17 | g.745810C= | CA2242474425 | GEMIN4 | c.2233G= (p.Glu745=) c.2200G= (p.Glu734=) c.2245G= (p.Glu749=) | |
17 | g.745810C>G | CA397504268 | GEMIN4 | c.2233G>C (p.Glu745Gln) c.2200G>C (p.Glu734Gln) c.2245G>C (p.Glu749Gln) | |
17 | g.745810C>T | CA397504266 | GEMIN4 | c.2233G>A (p.Glu745Lys) c.2200G>A (p.Glu734Lys) c.2245G>A (p.Glu749Lys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745811A>C | CA497384420 | GEMIN4 | c.2232T>G (p.Ala744=) c.2199T>G (p.Ala733=) c.2244T>G (p.Ala748=) | |
17 | g.745811A>G | CA497384419 | GEMIN4 | c.2232T>C (p.Ala744=) c.2199T>C (p.Ala733=) c.2244T>C (p.Ala748=) | gnomAD v4 |