Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.745784G>A | CA497384376 | GEMIN4 | c.2259C>T (p.Ile753=) c.2226C>T (p.Ile742=) c.2271C>T (p.Ile757=) | |
17 | g.745784G>C | CA397504207 | GEMIN4 | c.2259C>G (p.Ile753Met) c.2226C>G (p.Ile742Met) c.2271C>G (p.Ile757Met) | |
17 | g.745784G>T | CA497384377 | GEMIN4 | c.2259C>A (p.Ile753=) c.2226C>A (p.Ile742=) c.2271C>A (p.Ile757=) | gnomAD v4 |
17 | g.745785A>C | CA397504210 | GEMIN4 | c.2258T>G (p.Ile753Ser) c.2225T>G (p.Ile742Ser) c.2270T>G (p.Ile757Ser) | |
17 | g.745785A>G | CA397504209 | GEMIN4 | c.2258T>C (p.Ile753Thr) c.2225T>C (p.Ile742Thr) c.2270T>C (p.Ile757Thr) | |
17 | g.745785A>T | CA397504208 | GEMIN4 | c.2258T>A (p.Ile753Asn) c.2225T>A (p.Ile742Asn) c.2270T>A (p.Ile757Asn) | |
17 | g.745786T>A | CA397504211 | GEMIN4 | c.2257A>T (p.Ile753Phe) c.2224A>T (p.Ile742Phe) c.2269A>T (p.Ile757Phe) | |
17 | g.745786T>C | CA397504212 | GEMIN4 | c.2257A>G (p.Ile753Val) c.2224A>G (p.Ile742Val) c.2269A>G (p.Ile757Val) | dbSNP gnomAD v4 |
17 | g.745786T>G | CA397504213 | GEMIN4 | c.2257A>C (p.Ile753Leu) c.2224A>C (p.Ile742Leu) c.2269A>C (p.Ile757Leu) | |
17 | g.745786T= | CA2242474415 | GEMIN4 | c.2257A= (p.Ile753=) c.2224A= (p.Ile742=) c.2269A= (p.Ile757=) | |
17 | g.745787C>A | CA397504214 | GEMIN4 | c.2256G>T (p.Trp752Cys) c.2223G>T (p.Trp741Cys) c.2268G>T (p.Trp756Cys) | gnomAD v4 |
17 | g.745787C>G | CA397504215 | GEMIN4 | c.2256G>C (p.Trp752Cys) c.2223G>C (p.Trp741Cys) c.2268G>C (p.Trp756Cys) | |
17 | g.745787C>T | CA397504216 | GEMIN4 | c.2256G>A (p.Trp752Ter) c.2223G>A (p.Trp741Ter) c.2268G>A (p.Trp756Ter) | |
17 | g.745787_745788delinsTT | CA645586969 | GEMIN4 | c.2255_2256delinsAA (p.Trp752Ter) c.2222_2223delinsAA (p.Trp741Ter) c.2267_2268delinsAA (p.Trp756Ter) | COSMIC COSMIC |
17 | g.745788C>A | CA397504217 | GEMIN4 | c.2255G>T (p.Trp752Leu) c.2222G>T (p.Trp741Leu) c.2267G>T (p.Trp756Leu) | |
17 | g.745788C>G | CA397504218 | GEMIN4 | c.2255G>C (p.Trp752Ser) c.2222G>C (p.Trp741Ser) c.2267G>C (p.Trp756Ser) | |
17 | g.745788C>T | CA397504219 | GEMIN4 | c.2255G>A (p.Trp752Ter) c.2222G>A (p.Trp741Ter) c.2267G>A (p.Trp756Ter) | gnomAD v4 |
17 | g.745789A>C | CA397504220 | GEMIN4 | c.2254T>G (p.Trp752Gly) c.2221T>G (p.Trp741Gly) c.2266T>G (p.Trp756Gly) | |
17 | g.745789A>G | CA397504221 | GEMIN4 | c.2254T>C (p.Trp752Arg) c.2221T>C (p.Trp741Arg) c.2266T>C (p.Trp756Arg) | |
17 | g.745789A>T | CA397504222 | GEMIN4 | c.2254T>A (p.Trp752Arg) c.2221T>A (p.Trp741Arg) c.2266T>A (p.Trp756Arg) | |
17 | g.745790G>A | CA497384383 | GEMIN4 | c.2253C>T (p.Val751=) c.2220C>T (p.Val740=) c.2265C>T (p.Val755=) | |
17 | g.745790G>C | CA497384385 | GEMIN4 | c.2253C>G (p.Val751=) c.2220C>G (p.Val740=) c.2265C>G (p.Val755=) | |
17 | g.745790G>T | CA497384387 | GEMIN4 | c.2253C>A (p.Val751=) c.2220C>A (p.Val740=) c.2265C>A (p.Val755=) | |
17 | g.745791A>C | CA397504225 | GEMIN4 | c.2252T>G (p.Val751Gly) c.2219T>G (p.Val740Gly) c.2264T>G (p.Val755Gly) | |
17 | g.745791A>G | CA397504224 | GEMIN4 | c.2252T>C (p.Val751Ala) c.2219T>C (p.Val740Ala) c.2264T>C (p.Val755Ala) | |
17 | g.745791A>T | CA397504223 | GEMIN4 | c.2252T>A (p.Val751Asp) c.2219T>A (p.Val740Asp) c.2264T>A (p.Val755Asp) | |
17 | g.745792C>A | CA397504226 | GEMIN4 | c.2251G>T (p.Val751Phe) c.2218G>T (p.Val740Phe) c.2263G>T (p.Val755Phe) | |
17 | g.745792C>G | CA397504228 | GEMIN4 | c.2251G>C (p.Val751Leu) c.2218G>C (p.Val740Leu) c.2263G>C (p.Val755Leu) | |
17 | g.745792C>T | CA397504227 | GEMIN4 | c.2251G>A (p.Val751Ile) c.2218G>A (p.Val740Ile) c.2263G>A (p.Val755Ile) | gnomAD v4 |
17 | g.745793A>C | CA397504229 | GEMIN4 | c.2250T>G (p.Asp750Glu) c.2217T>G (p.Asp739Glu) c.2262T>G (p.Asp754Glu) | |
17 | g.745793A>G | CA497384388 | GEMIN4 | c.2250T>C (p.Asp750=) c.2217T>C (p.Asp739=) c.2262T>C (p.Asp754=) | |
17 | g.745793A>T | CA397504230 | GEMIN4 | c.2250T>A (p.Asp750Glu) c.2217T>A (p.Asp739Glu) c.2262T>A (p.Asp754Glu) | |
17 | g.745794T>A | CA397504231 | GEMIN4 | c.2249A>T (p.Asp750Val) c.2216A>T (p.Asp739Val) c.2261A>T (p.Asp754Val) | |
17 | g.745794T>C | CA397504232 | GEMIN4 | c.2249A>G (p.Asp750Gly) c.2216A>G (p.Asp739Gly) c.2261A>G (p.Asp754Gly) | |
17 | g.745794T>G | CA397504233 | GEMIN4 | c.2249A>C (p.Asp750Ala) c.2216A>C (p.Asp739Ala) c.2261A>C (p.Asp754Ala) | |
17 | g.745795C>A | CA397504234 | GEMIN4 | c.2248G>T (p.Asp750Tyr) c.2215G>T (p.Asp739Tyr) c.2260G>T (p.Asp754Tyr) | |
17 | g.745795C>G | CA397504235 | GEMIN4 | c.2248G>C (p.Asp750His) c.2215G>C (p.Asp739His) c.2260G>C (p.Asp754His) | |
17 | g.745795C>T | CA397504236 | GEMIN4 | c.2248G>A (p.Asp750Asn) c.2215G>A (p.Asp739Asn) c.2260G>A (p.Asp754Asn) | |
17 | g.745796C>A | CA497384391 | GEMIN4 | c.2247G>T (p.Pro749=) c.2214G>T (p.Pro738=) c.2259G>T (p.Pro753=) | gnomAD v4 |
17 | g.745796C= | CA2242474416 | GEMIN4 | c.2247G= (p.Pro749=) c.2214G= (p.Pro738=) c.2259G= (p.Pro753=) | |
17 | g.745796C>G | CA497384393 | GEMIN4 | c.2247G>C (p.Pro749=) c.2214G>C (p.Pro738=) c.2259G>C (p.Pro753=) | |
17 | g.745796C>T | CA8262449 | GEMIN4 | c.2247G>A (p.Pro749=) c.2214G>A (p.Pro738=) c.2259G>A (p.Pro753=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745797G>A | CA8262450 | GEMIN4 | c.2246C>T (p.Pro749Leu) c.2213C>T (p.Pro738Leu) c.2258C>T (p.Pro753Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745797G>C | CA397504237 | GEMIN4 | c.2246C>G (p.Pro749Arg) c.2213C>G (p.Pro738Arg) c.2258C>G (p.Pro753Arg) | gnomAD v4 |
17 | g.745797G= | CA2242474417 | GEMIN4 | c.2246C= (p.Pro749=) c.2213C= (p.Pro738=) c.2258C= (p.Pro753=) | |
17 | g.745797G>T | CA397504238 | GEMIN4 | c.2246C>A (p.Pro749Gln) c.2213C>A (p.Pro738Gln) c.2258C>A (p.Pro753Gln) | |
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) | ClinVar 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 |
17 | g.745811A>T | CA497384418 | GEMIN4 | c.2232T>A (p.Ala744=) c.2199T>A (p.Ala733=) c.2244T>A (p.Ala748=) | |
17 | g.745812G>A | CA397504269 | GEMIN4 | c.2231C>T (p.Ala744Val) c.2198C>T (p.Ala733Val) c.2243C>T (p.Ala748Val) | |
17 | g.745812G>C | CA397504270 | GEMIN4 | c.2231C>G (p.Ala744Gly) c.2198C>G (p.Ala733Gly) c.2243C>G (p.Ala748Gly) | gnomAD v4 |
17 | g.745812G>T | CA397504271 | GEMIN4 | c.2231C>A (p.Ala744Asp) c.2198C>A (p.Ala733Asp) c.2243C>A (p.Ala748Asp) | |
17 | g.745813C>A | CA397504272 | GEMIN4 | c.2230G>T (p.Ala744Ser) c.2197G>T (p.Ala733Ser) c.2242G>T (p.Ala748Ser) | gnomAD v4 |
17 | g.745813C>G | CA397504273 | GEMIN4 | c.2230G>C (p.Ala744Pro) c.2197G>C (p.Ala733Pro) c.2242G>C (p.Ala748Pro) | |
17 | g.745813C>T | CA397504274 | GEMIN4 | c.2230G>A (p.Ala744Thr) c.2197G>A (p.Ala733Thr) c.2242G>A (p.Ala748Thr) | gnomAD v4 |
17 | g.745814A= | CA2242474426 | GEMIN4 | c.2229T= (p.Asn743=) c.2196T= (p.Asn732=) c.2241T= (p.Asn747=) | |
17 | g.745814A>C | CA397504275 | GEMIN4 | c.2229T>G (p.Asn743Lys) c.2196T>G (p.Asn732Lys) c.2241T>G (p.Asn747Lys) | |
17 | g.745814A>G | CA497384427 | GEMIN4 | c.2229T>C (p.Asn743=) c.2196T>C (p.Asn732=) c.2241T>C (p.Asn747=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745814A>T | CA397504276 | GEMIN4 | c.2229T>A (p.Asn743Lys) c.2196T>A (p.Asn732Lys) c.2241T>A (p.Asn747Lys) | |
17 | g.745815T>A | CA397504277 | GEMIN4 | c.2228A>T (p.Asn743Ile) c.2195A>T (p.Asn732Ile) c.2240A>T (p.Asn747Ile) | |
17 | g.745815T>C | CA8262453 | GEMIN4 | c.2228A>G (p.Asn743Ser) c.2195A>G (p.Asn732Ser) c.2240A>G (p.Asn747Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745815T>G | CA397504278 | GEMIN4 | c.2228A>C (p.Asn743Thr) c.2195A>C (p.Asn732Thr) c.2240A>C (p.Asn747Thr) | |
17 | g.745815T= | CA2242474427 | GEMIN4 | c.2228A= (p.Asn743=) c.2195A= (p.Asn732=) c.2240A= (p.Asn747=) | |
17 | g.745816T>A | CA397504279 | GEMIN4 | c.2227A>T (p.Asn743Tyr) c.2194A>T (p.Asn732Tyr) c.2239A>T (p.Asn747Tyr) | |
17 | g.745816T>C | CA397504280 | GEMIN4 | c.2227A>G (p.Asn743Asp) c.2194A>G (p.Asn732Asp) c.2239A>G (p.Asn747Asp) | gnomAD v4 |
17 | g.745816T>G | CA397504281 | GEMIN4 | c.2227A>C (p.Asn743His) c.2194A>C (p.Asn732His) c.2239A>C (p.Asn747His) | |
17 | g.745817G>A | CA497384432 | GEMIN4 | c.2226C>T (p.Ala742=) c.2193C>T (p.Ala731=) c.2238C>T (p.Ala746=) | gnomAD v4 |
17 | g.745817G>C | CA497384433 | GEMIN4 | c.2226C>G (p.Ala742=) c.2193C>G (p.Ala731=) c.2238C>G (p.Ala746=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745817G= | CA2242474428 | GEMIN4 | c.2226C= (p.Ala742=) c.2193C= (p.Ala731=) c.2238C= (p.Ala746=) | |
17 | g.745817G>T | CA497384430 | GEMIN4 | c.2226C>A (p.Ala742=) c.2193C>A (p.Ala731=) c.2238C>A (p.Ala746=) | gnomAD v4 |
17 | g.745818G>A | CA397504283 | GEMIN4 | c.2225C>T (p.Ala742Val) c.2192C>T (p.Ala731Val) c.2237C>T (p.Ala746Val) | |
17 | g.745818G>C | CA397504284 | GEMIN4 | c.2225C>G (p.Ala742Gly) c.2192C>G (p.Ala731Gly) c.2237C>G (p.Ala746Gly) | |
17 | g.745818G>T | CA397504282 | GEMIN4 | c.2225C>A (p.Ala742Asp) c.2192C>A (p.Ala731Asp) c.2237C>A (p.Ala746Asp) | |
17 | g.745819C>A | CA397504286 | GEMIN4 | c.2224G>T (p.Ala742Ser) c.2191G>T (p.Ala731Ser) c.2236G>T (p.Ala746Ser) | |
17 | g.745819C= | CA2242474429 | GEMIN4 | c.2224G= (p.Ala742=) c.2191G= (p.Ala731=) c.2236G= (p.Ala746=) | |
17 | g.745819C>G | CA397504285 | GEMIN4 | c.2224G>C (p.Ala742Pro) c.2191G>C (p.Ala731Pro) c.2236G>C (p.Ala746Pro) | |
17 | g.745819C>T | CA286713662 | GEMIN4 | c.2224G>A (p.Ala742Thr) c.2191G>A (p.Ala731Thr) c.2236G>A (p.Ala746Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745820T>A | CA497383590 | GEMIN4 | c.2223A>T (p.Ser741=) c.2190A>T (p.Ser730=) c.2235A>T (p.Ser745=) | |
17 | g.745820T>C | CA497383589 | GEMIN4 | c.2223A>G (p.Ser741=) c.2190A>G (p.Ser730=) c.2235A>G (p.Ser745=) | gnomAD v4 |
17 | g.745820T>G | CA497383588 | GEMIN4 | c.2223A>C (p.Ser741=) c.2190A>C (p.Ser730=) c.2235A>C (p.Ser745=) | |
17 | g.745821G>A | CA397505207 | GEMIN4 | c.2222C>T (p.Ser741Leu) c.2189C>T (p.Ser730Leu) c.2234C>T (p.Ser745Leu) | gnomAD v4 |
17 | g.745821G>C | CA397505212 | GEMIN4 | c.2222C>G (p.Ser741Ter) c.2189C>G (p.Ser730Ter) c.2234C>G (p.Ser745Ter) | |
17 | g.745821G>T | CA397505210 | GEMIN4 | c.2222C>A (p.Ser741Ter) c.2189C>A (p.Ser730Ter) c.2234C>A (p.Ser745Ter) | |
17 | g.745822A>C | CA397505214 | GEMIN4 | c.2221T>G (p.Ser741Ala) c.2188T>G (p.Ser730Ala) c.2233T>G (p.Ser745Ala) | |
17 | g.745822A>G | CA397505218 | GEMIN4 | c.2221T>C (p.Ser741Pro) c.2188T>C (p.Ser730Pro) c.2233T>C (p.Ser745Pro) | |
17 | g.745822A>T | CA397505216 | GEMIN4 | c.2221T>A (p.Ser741Thr) c.2188T>A (p.Ser730Thr) c.2233T>A (p.Ser745Thr) | |
17 | g.745823T>A | CA497383594 | GEMIN4 | c.2220A>T (p.Val740=) c.2187A>T (p.Val729=) c.2232A>T (p.Val744=) | |
17 | g.745823T>C | CA497383597 | GEMIN4 | c.2220A>G (p.Val740=) c.2187A>G (p.Val729=) c.2232A>G (p.Val744=) | gnomAD v4 |
17 | g.745823T>G | CA497383595 | GEMIN4 | c.2220A>C (p.Val740=) c.2187A>C (p.Val729=) c.2232A>C (p.Val744=) | |
17 | g.745824A>C | CA397505220 | GEMIN4 | c.2219T>G (p.Val740Gly) c.2186T>G (p.Val729Gly) c.2231T>G (p.Val744Gly) | |
17 | g.745824A>G | CA397505223 | GEMIN4 | c.2219T>C (p.Val740Ala) c.2186T>C (p.Val729Ala) c.2231T>C (p.Val744Ala) | |
17 | g.745824A>T | CA397505222 | GEMIN4 | c.2219T>A (p.Val740Glu) c.2186T>A (p.Val729Glu) c.2231T>A (p.Val744Glu) | |
17 | g.745825C>A | CA8262455 | GEMIN4 | c.2218G>T (p.Val740Leu) c.2185G>T (p.Val729Leu) c.2230G>T (p.Val744Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745825C= | CA2242474430 | GEMIN4 | c.2218G= (p.Val740=) c.2185G= (p.Val729=) c.2230G= (p.Val744=) | |
17 | g.745825C>G | CA397505228 | GEMIN4 | c.2218G>C (p.Val740Leu) c.2185G>C (p.Val729Leu) c.2230G>C (p.Val744Leu) | |
17 | g.745825C>T | CA8262454 | GEMIN4 | c.2218G>A (p.Val740Ile) c.2185G>A (p.Val729Ile) c.2230G>A (p.Val744Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745826A>C | CA397505230 | GEMIN4 | c.2217T>G (p.Ile739Met) c.2184T>G (p.Ile728Met) c.2229T>G (p.Ile743Met) | gnomAD v4 |
17 | g.745826A>G | CA497383600 | GEMIN4 | c.2217T>C (p.Ile739=) c.2184T>C (p.Ile728=) c.2229T>C (p.Ile743=) | |
17 | g.745826A>T | CA497383601 | GEMIN4 | c.2217T>A (p.Ile739=) c.2184T>A (p.Ile728=) c.2229T>A (p.Ile743=) | |
17 | g.745827A= | CA2242474431 | GEMIN4 | c.2216T= (p.Ile739=) c.2183T= (p.Ile728=) c.2228T= (p.Ile743=) | |
17 | g.745827A>C | CA397505232 | GEMIN4 | c.2216T>G (p.Ile739Ser) c.2183T>G (p.Ile728Ser) c.2228T>G (p.Ile743Ser) | |
17 | g.745827A>G | CA8262456 | GEMIN4 | c.2216T>C (p.Ile739Thr) c.2183T>C (p.Ile728Thr) c.2228T>C (p.Ile743Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745827A>T | CA397505235 | GEMIN4 | c.2216T>A (p.Ile739Asn) c.2183T>A (p.Ile728Asn) c.2228T>A (p.Ile743Asn) | gnomAD v4 |
17 | g.745827_745829delinsATC | CA2242474432 | GEMIN4 | c.2214_2216delinsGAT (p.Glu738=) c.2181_2183delinsGAT (p.Glu727=) c.2226_2228delinsGAT (p.Glu742=) | |
17 | g.745828T>A | CA397505236 | GEMIN4 | c.2215A>T (p.Ile739Phe) c.2182A>T (p.Ile728Phe) c.2227A>T (p.Ile743Phe) | |
17 | g.745828T>C | CA397505238 | GEMIN4 | c.2215A>G (p.Ile739Val) c.2182A>G (p.Ile728Val) c.2227A>G (p.Ile743Val) | |
17 | g.745828T>G | CA397505240 | GEMIN4 | c.2215A>C (p.Ile739Leu) c.2182A>C (p.Ile728Leu) c.2227A>C (p.Ile743Leu) | gnomAD v4 |
17 | g.745830_745831del | CA2242474433 | GEMIN4 | c.2214_2215del (p.Glu738AspfsTer7) c.2181_2182del (p.Glu727AspfsTer7) c.2226_2227del (p.Glu742AspfsTer7) | dbSNP gnomAD v4 |
17 | g.745829C>A | CA397505242 | GEMIN4 | c.2214G>T (p.Glu738Asp) c.2181G>T (p.Glu727Asp) c.2226G>T (p.Glu742Asp) | |
17 | g.745829C= | CA2242474434 | GEMIN4 | c.2214G= (p.Glu738=) c.2181G= (p.Glu727=) c.2226G= (p.Glu742=) | |
17 | g.745829C>G | CA397505244 | GEMIN4 | c.2214G>C (p.Glu738Asp) c.2181G>C (p.Glu727Asp) c.2226G>C (p.Glu742Asp) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745829C>T | CA497383602 | GEMIN4 | c.2214G>A (p.Glu738=) c.2181G>A (p.Glu727=) c.2226G>A (p.Glu742=) | |
17 | g.745830T>A | CA397505246 | GEMIN4 | c.2213A>T (p.Glu738Val) c.2180A>T (p.Glu727Val) c.2225A>T (p.Glu742Val) | |
17 | g.745830T>C | CA8262457 | GEMIN4 | c.2213A>G (p.Glu738Gly) c.2180A>G (p.Glu727Gly) c.2225A>G (p.Glu742Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745830T>G | CA397505249 | GEMIN4 | c.2213A>C (p.Glu738Ala) c.2180A>C (p.Glu727Ala) c.2225A>C (p.Glu742Ala) | |
17 | g.745830T= | CA2242474435 | GEMIN4 | c.2213A= (p.Glu738=) c.2180A= (p.Glu727=) c.2225A= (p.Glu742=) | |
17 | g.745831C>A | CA397505251 | GEMIN4 | c.2212G>T (p.Glu738Ter) c.2179G>T (p.Glu727Ter) c.2224G>T (p.Glu742Ter) | |
17 | g.745831C= | CA2242474436 | GEMIN4 | c.2212G= (p.Glu738=) c.2179G= (p.Glu727=) c.2224G= (p.Glu742=) | |
17 | g.745831C>G | CA397505255 | GEMIN4 | c.2212G>C (p.Glu738Gln) c.2179G>C (p.Glu727Gln) c.2224G>C (p.Glu742Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745831C>T | CA397505253 | GEMIN4 | c.2212G>A (p.Glu738Lys) c.2179G>A (p.Glu727Lys) c.2224G>A (p.Glu742Lys) | gnomAD v4 |
17 | g.745832A= | CA2242474437 | GEMIN4 | c.2211T= (p.Cys737=) c.2178T= (p.Cys726=) c.2223T= (p.Cys741=) | |
17 | g.745832A>C | CA8262458 | GEMIN4 | c.2211T>G (p.Cys737Trp) c.2178T>G (p.Cys726Trp) c.2223T>G (p.Cys741Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745832A>G | CA497383603 | GEMIN4 | c.2211T>C (p.Cys737=) c.2178T>C (p.Cys726=) c.2223T>C (p.Cys741=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745832A>T | CA397505258 | GEMIN4 | c.2211T>A (p.Cys737Ter) c.2178T>A (p.Cys726Ter) c.2223T>A (p.Cys741Ter) | |
17 | g.745833C>A | CA397505261 | GEMIN4 | c.2210G>T (p.Cys737Phe) c.2177G>T (p.Cys726Phe) c.2222G>T (p.Cys741Phe) | |
17 | g.745833C= | CA2242474438 | GEMIN4 | c.2210G= (p.Cys737=) c.2177G= (p.Cys726=) c.2222G= (p.Cys741=) | |
17 | g.745833C>G | CA397505262 | GEMIN4 | c.2210G>C (p.Cys737Ser) c.2177G>C (p.Cys726Ser) c.2222G>C (p.Cys741Ser) | |
17 | g.745833C>T | CA397505263 | GEMIN4 | c.2210G>A (p.Cys737Tyr) c.2177G>A (p.Cys726Tyr) c.2222G>A (p.Cys741Tyr) | dbSNP |
17 | g.745834A>C | CA397505266 | GEMIN4 | c.2209T>G (p.Cys737Gly) c.2176T>G (p.Cys726Gly) c.2221T>G (p.Cys741Gly) | |
17 | g.745834A>G | CA397505267 | GEMIN4 | c.2209T>C (p.Cys737Arg) c.2176T>C (p.Cys726Arg) c.2221T>C (p.Cys741Arg) | gnomAD v4 |
17 | g.745834A>T | CA397505268 | GEMIN4 | c.2209T>A (p.Cys737Ser) c.2176T>A (p.Cys726Ser) c.2221T>A (p.Cys741Ser) | |
17 | g.745835C>A | CA497383604 | GEMIN4 | c.2208G>T (p.Leu736=) c.2175G>T (p.Leu725=) c.2220G>T (p.Leu740=) | |
17 | g.745835C>G | CA497383605 | GEMIN4 | c.2208G>C (p.Leu736=) c.2175G>C (p.Leu725=) c.2220G>C (p.Leu740=) | |
17 | g.745835C>T | CA497383606 | GEMIN4 | c.2208G>A (p.Leu736=) c.2175G>A (p.Leu725=) c.2220G>A (p.Leu740=) | |
17 | g.745836A>C | CA397505273 | GEMIN4 | c.2207T>G (p.Leu736Arg) c.2174T>G (p.Leu725Arg) c.2219T>G (p.Leu740Arg) | |
17 | g.745836A>G | CA397505272 | GEMIN4 | c.2207T>C (p.Leu736Pro) c.2174T>C (p.Leu725Pro) c.2219T>C (p.Leu740Pro) | |
17 | g.745836A>T | CA397505271 | GEMIN4 | c.2207T>A (p.Leu736Gln) c.2174T>A (p.Leu725Gln) c.2219T>A (p.Leu740Gln) | |
17 | g.745837G>A | CA8262459 | GEMIN4 | c.2206C>T (p.Leu736=) c.2173C>T (p.Leu725=) c.2218C>T (p.Leu740=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745837G>C | CA397505274 | GEMIN4 | c.2206C>G (p.Leu736Val) c.2173C>G (p.Leu725Val) c.2218C>G (p.Leu740Val) | dbSNP |
17 | g.745837G= | CA2242474439 | GEMIN4 | c.2206C= (p.Leu736=) c.2173C= (p.Leu725=) c.2218C= (p.Leu740=) | |
17 | g.745837G>T | CA397505275 | GEMIN4 | c.2206C>A (p.Leu736Met) c.2173C>A (p.Leu725Met) c.2218C>A (p.Leu740Met) | |
17 | g.745838G>A | CA497383610 | GEMIN4 | c.2205C>T (p.Leu735=) c.2172C>T (p.Leu724=) c.2217C>T (p.Leu739=) | |
17 | g.745838G>C | CA497383611 | GEMIN4 | c.2205C>G (p.Leu735=) c.2172C>G (p.Leu724=) c.2217C>G (p.Leu739=) | |
17 | g.745838G>T | CA497383612 | GEMIN4 | c.2205C>A (p.Leu735=) c.2172C>A (p.Leu724=) c.2217C>A (p.Leu739=) | |
17 | g.745839A>C | CA397505276 | GEMIN4 | c.2204T>G (p.Leu735Arg) c.2171T>G (p.Leu724Arg) c.2216T>G (p.Leu739Arg) | |
17 | g.745839A>G | CA397505278 | GEMIN4 | c.2204T>C (p.Leu735Pro) c.2171T>C (p.Leu724Pro) c.2216T>C (p.Leu739Pro) | |
17 | g.745839A>T | CA397505279 | GEMIN4 | c.2204T>A (p.Leu735His) c.2171T>A (p.Leu724His) c.2216T>A (p.Leu739His) | |
17 | g.745840G>A | CA397505281 | GEMIN4 | c.2203C>T (p.Leu735Phe) c.2170C>T (p.Leu724Phe) c.2215C>T (p.Leu739Phe) | |
17 | g.745840G>C | CA397505283 | GEMIN4 | c.2203C>G (p.Leu735Val) c.2170C>G (p.Leu724Val) c.2215C>G (p.Leu739Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745840G= | CA2242474440 | GEMIN4 | c.2203C= (p.Leu735=) c.2170C= (p.Leu724=) c.2215C= (p.Leu739=) | |
17 | g.745840G>T | CA397505285 | GEMIN4 | c.2203C>A (p.Leu735Ile) c.2170C>A (p.Leu724Ile) c.2215C>A (p.Leu739Ile) | |
17 | g.745841C>A | CA397505287 | GEMIN4 | c.2202G>T (p.Glu734Asp) c.2169G>T (p.Glu723Asp) c.2214G>T (p.Glu738Asp) | gnomAD v3 gnomAD v4 |
17 | g.745841C>G | CA397505288 | GEMIN4 | c.2202G>C (p.Glu734Asp) c.2169G>C (p.Glu723Asp) c.2214G>C (p.Glu738Asp) | gnomAD v4 |
17 | g.745841C>T | CA497383614 | GEMIN4 | c.2202G>A (p.Glu734=) c.2169G>A (p.Glu723=) c.2214G>A (p.Glu738=) | |
17 | g.745842T>A | CA397505294 | GEMIN4 | c.2201A>T (p.Glu734Val) c.2168A>T (p.Glu723Val) c.2213A>T (p.Glu738Val) | |
17 | g.745842T>C | CA397505291 | GEMIN4 | c.2201A>G (p.Glu734Gly) c.2168A>G (p.Glu723Gly) c.2213A>G (p.Glu738Gly) | |
17 | g.745842T>G | CA397505292 | GEMIN4 | c.2201A>C (p.Glu734Ala) c.2168A>C (p.Glu723Ala) c.2213A>C (p.Glu738Ala) | |
17 | g.745843C>A | CA397505296 | GEMIN4 | c.2200G>T (p.Glu734Ter) c.2167G>T (p.Glu723Ter) c.2212G>T (p.Glu738Ter) | |
17 | g.745843C= | CA2242474441 | GEMIN4 | c.2200G= (p.Glu734=) c.2167G= (p.Glu723=) c.2212G= (p.Glu738=) | |
17 | g.745843C>G | CA8262460 | GEMIN4 | c.2200G>C (p.Glu734Gln) c.2167G>C (p.Glu723Gln) c.2212G>C (p.Glu738Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745843C>T | CA397505297 | GEMIN4 | c.2200G>A (p.Glu734Lys) c.2167G>A (p.Glu723Lys) c.2212G>A (p.Glu738Lys) | |
17 | g.745843_745845del | CA645586970 | GEMIN4 | c.2198_2200del (p.Leu733_Glu734delinsGln) c.2165_2167del (p.Leu722_Glu723delinsGln) c.2210_2212del (p.Leu737_Glu738delinsGln) | COSMIC COSMIC |
17 | g.745844C>A | CA497383618 | GEMIN4 | c.2199G>T (p.Leu733=) c.2166G>T (p.Leu722=) c.2211G>T (p.Leu737=) | |
17 | g.745844C>G | CA497383619 | GEMIN4 | c.2199G>C (p.Leu733=) c.2166G>C (p.Leu722=) c.2211G>C (p.Leu737=) | |
17 | g.745844C>T | CA497383620 | GEMIN4 | c.2199G>A (p.Leu733=) c.2166G>A (p.Leu722=) c.2211G>A (p.Leu737=) | |
17 | g.745845A= | CA2242474442 | GEMIN4 | c.2198T= (p.Leu733=) c.2165T= (p.Leu722=) c.2210T= (p.Leu737=) | |
17 | g.745845A>C | CA397505300 | GEMIN4 | c.2198T>G (p.Leu733Arg) c.2165T>G (p.Leu722Arg) c.2210T>G (p.Leu737Arg) | |
17 | g.745845A>G | CA397505302 | GEMIN4 | c.2198T>C (p.Leu733Pro) c.2165T>C (p.Leu722Pro) c.2210T>C (p.Leu737Pro) | dbSNP gnomAD v4 |
17 | g.745845A>T | CA397505305 | GEMIN4 | c.2198T>A (p.Leu733Gln) c.2165T>A (p.Leu722Gln) c.2210T>A (p.Leu737Gln) | |
17 | g.745846G>A | CA8262461 | GEMIN4 | c.2197C>T (p.Leu733=) c.2164C>T (p.Leu722=) c.2209C>T (p.Leu737=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745846G>C | CA397505309 | GEMIN4 | c.2197C>G (p.Leu733Val) c.2164C>G (p.Leu722Val) c.2209C>G (p.Leu737Val) | |
17 | g.745846G= | CA2242474443 | GEMIN4 | c.2197C= (p.Leu733=) c.2164C= (p.Leu722=) c.2209C= (p.Leu737=) | |
17 | g.745846G>T | CA397505310 | GEMIN4 | c.2197C>A (p.Leu733Met) c.2164C>A (p.Leu722Met) c.2209C>A (p.Leu737Met) | |
17 | g.745847G>A | CA8262462 | GEMIN4 | c.2196C>T (p.Ile732=) c.2163C>T (p.Ile721=) c.2208C>T (p.Ile736=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745847G>C | CA397505313 | GEMIN4 | c.2196C>G (p.Ile732Met) c.2163C>G (p.Ile721Met) c.2208C>G (p.Ile736Met) | |
17 | g.745847G= | CA2242474444 | GEMIN4 | c.2196C= (p.Ile732=) c.2163C= (p.Ile721=) c.2208C= (p.Ile736=) | |
17 | g.745847G>T | CA497383623 | GEMIN4 | c.2196C>A (p.Ile732=) c.2163C>A (p.Ile721=) c.2208C>A (p.Ile736=) | |
17 | g.745848A= | CA2242474445 | GEMIN4 | c.2195T= (p.Ile732=) c.2162T= (p.Ile721=) c.2207T= (p.Ile736=) | |
17 | g.745848A>C | CA397505317 | GEMIN4 | c.2195T>G (p.Ile732Ser) c.2162T>G (p.Ile721Ser) c.2207T>G (p.Ile736Ser) | |
17 | g.745848A>G | CA8262463 | GEMIN4 | c.2195T>C (p.Ile732Thr) c.2162T>C (p.Ile721Thr) c.2207T>C (p.Ile736Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745848A>T | CA397505316 | GEMIN4 | c.2195T>A (p.Ile732Asn) c.2162T>A (p.Ile721Asn) c.2207T>A (p.Ile736Asn) | |
17 | g.745849T>A | CA397505323 | GEMIN4 | c.2194A>T (p.Ile732Phe) c.2161A>T (p.Ile721Phe) c.2206A>T (p.Ile736Phe) | |
17 | g.745849T>C | CA397505321 | GEMIN4 | c.2194A>G (p.Ile732Val) c.2161A>G (p.Ile721Val) c.2206A>G (p.Ile736Val) | ClinVar |
17 | g.745849T>G | CA397505322 | GEMIN4 | c.2194A>C (p.Ile732Leu) c.2161A>C (p.Ile721Leu) c.2206A>C (p.Ile736Leu) | |
17 | g.745850A= | CA2242474446 | GEMIN4 | c.2193T= (p.His731=) c.2160T= (p.His720=) c.2205T= (p.His735=) | |
17 | g.745850A>C | CA397505324 | GEMIN4 | c.2193T>G (p.His731Gln) c.2160T>G (p.His720Gln) c.2205T>G (p.His735Gln) | |
17 | g.745850A>G | CA286713663 | GEMIN4 | c.2193T>C (p.His731=) c.2160T>C (p.His720=) c.2205T>C (p.His735=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745850A>T | CA397505325 | GEMIN4 | c.2193T>A (p.His731Gln) c.2160T>A (p.His720Gln) c.2205T>A (p.His735Gln) | |
17 | g.745851T>A | CA397505326 | GEMIN4 | c.2192A>T (p.His731Leu) c.2159A>T (p.His720Leu) c.2204A>T (p.His735Leu) | |
17 | g.745851T>C | CA397505327 | GEMIN4 | c.2192A>G (p.His731Arg) c.2159A>G (p.His720Arg) c.2204A>G (p.His735Arg) | dbSNP |
17 | g.745851T>G | CA397505328 | GEMIN4 | c.2192A>C (p.His731Pro) c.2159A>C (p.His720Pro) c.2204A>C (p.His735Pro) | |
17 | g.745852G>A | CA286713664 | GEMIN4 | c.2191C>T (p.His731Tyr) c.2158C>T (p.His720Tyr) c.2203C>T (p.His735Tyr) | dbSNP |
17 | g.745852G>C | CA397505331 | GEMIN4 | c.2191C>G (p.His731Asp) c.2158C>G (p.His720Asp) c.2203C>G (p.His735Asp) | |
17 | g.745852G= | CA2242474447 | GEMIN4 | c.2191C= (p.His731=) c.2158C= (p.His720=) c.2203C= (p.His735=) | |
17 | g.745852G>T | CA397505333 | GEMIN4 | c.2191C>A (p.His731Asn) c.2158C>A (p.His720Asn) c.2203C>A (p.His735Asn) | |
17 | g.745853G>A | CA497383627 | GEMIN4 | c.2190C>T (p.Ile730=) c.2157C>T (p.Ile719=) c.2202C>T (p.Ile734=) | |
17 | g.745853G>C | CA397505334 | GEMIN4 | c.2190C>G (p.Ile730Met) c.2157C>G (p.Ile719Met) c.2202C>G (p.Ile734Met) | |
17 | g.745853G>T | CA497383628 | GEMIN4 | c.2190C>A (p.Ile730=) c.2157C>A (p.Ile719=) c.2202C>A (p.Ile734=) | |
17 | g.745854A>C | CA397505340 | GEMIN4 | c.2189T>G (p.Ile730Ser) c.2156T>G (p.Ile719Ser) c.2201T>G (p.Ile734Ser) | |
17 | g.745854A>G | CA397505338 | GEMIN4 | c.2189T>C (p.Ile730Thr) c.2156T>C (p.Ile719Thr) c.2201T>C (p.Ile734Thr) | |
17 | g.745854A>T | CA397505336 | GEMIN4 | c.2189T>A (p.Ile730Asn) c.2156T>A (p.Ile719Asn) c.2201T>A (p.Ile734Asn) | |
17 | g.745855T>A | CA397505342 | GEMIN4 | c.2188A>T (p.Ile730Phe) c.2155A>T (p.Ile719Phe) c.2200A>T (p.Ile734Phe) | |
17 | g.745855T>C | CA397505344 | GEMIN4 | c.2188A>G (p.Ile730Val) c.2155A>G (p.Ile719Val) c.2200A>G (p.Ile734Val) | |
17 | g.745855T>G | CA397505346 | GEMIN4 | c.2188A>C (p.Ile730Leu) c.2155A>C (p.Ile719Leu) c.2200A>C (p.Ile734Leu) | |
17 | g.745856C>A | CA497383629 | GEMIN4 | c.2187G>T (p.Ala729=) c.2154G>T (p.Ala718=) c.2199G>T (p.Ala733=) | |
17 | g.745856C= | CA2242474448 | GEMIN4 | c.2187G= (p.Ala729=) c.2154G= (p.Ala718=) c.2199G= (p.Ala733=) | |
17 | g.745856C>G | CA497383630 | GEMIN4 | c.2187G>C (p.Ala729=) c.2154G>C (p.Ala718=) c.2199G>C (p.Ala733=) | |
17 | g.745856C>T | CA8262464 | GEMIN4 | c.2187G>A (p.Ala729=) c.2154G>A (p.Ala718=) c.2199G>A (p.Ala733=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.745857G>A | CA397505349 | GEMIN4 | c.2186C>T (p.Ala729Val) c.2153C>T (p.Ala718Val) c.2198C>T (p.Ala733Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745857G>C | CA397505351 | GEMIN4 | c.2186C>G (p.Ala729Gly) c.2153C>G (p.Ala718Gly) c.2198C>G (p.Ala733Gly) | |
17 | g.745857G= | CA2242474449 | GEMIN4 | c.2186C= (p.Ala729=) c.2153C= (p.Ala718=) c.2198C= (p.Ala733=) | |
17 | g.745857G>T | CA397505352 | GEMIN4 | c.2186C>A (p.Ala729Glu) c.2153C>A (p.Ala718Glu) c.2198C>A (p.Ala733Glu) | |
17 | g.745858C>A | CA397505354 | GEMIN4 | c.2185G>T (p.Ala729Ser) c.2152G>T (p.Ala718Ser) c.2197G>T (p.Ala733Ser) | dbSNP gnomAD v4 |
17 | g.745858C= | CA2242474450 | GEMIN4 | c.2185G= (p.Ala729=) c.2152G= (p.Ala718=) c.2197G= (p.Ala733=) | |
17 | g.745858C>G | CA397505355 | GEMIN4 | c.2185G>C (p.Ala729Pro) c.2152G>C (p.Ala718Pro) c.2197G>C (p.Ala733Pro) | |
17 | g.745858C>T | CA397505356 | GEMIN4 | c.2185G>A (p.Ala729Thr) c.2152G>A (p.Ala718Thr) c.2197G>A (p.Ala733Thr) | gnomAD v4 |
17 | g.745859T>A | CA497383632 | GEMIN4 | c.2184A>T (p.Leu728=) c.2151A>T (p.Leu717=) c.2196A>T (p.Leu732=) | |
17 | g.745859T>C | CA497383633 | GEMIN4 | c.2184A>G (p.Leu728=) c.2151A>G (p.Leu717=) c.2196A>G (p.Leu732=) | |
17 | g.745859T>G | CA497383634 | GEMIN4 | c.2184A>C (p.Leu728=) c.2151A>C (p.Leu717=) c.2196A>C (p.Leu732=) | |
17 | g.745860A>C | CA397505358 | GEMIN4 | c.2183T>G (p.Leu728Arg) c.2150T>G (p.Leu717Arg) c.2195T>G (p.Leu732Arg) | |
17 | g.745860A>G | CA397505359 | GEMIN4 | c.2183T>C (p.Leu728Pro) c.2150T>C (p.Leu717Pro) c.2195T>C (p.Leu732Pro) | |
17 | g.745860A>T | CA397505361 | GEMIN4 | c.2183T>A (p.Leu728Gln) c.2150T>A (p.Leu717Gln) c.2195T>A (p.Leu732Gln) | |
17 | g.745861G>A | CA497383637 | GEMIN4 | c.2182C>T (p.Leu728=) c.2149C>T (p.Leu717=) c.2194C>T (p.Leu732=) | gnomAD v4 |
17 | g.745861G>C | CA397505363 | GEMIN4 | c.2182C>G (p.Leu728Val) c.2149C>G (p.Leu717Val) c.2194C>G (p.Leu732Val) | dbSNP |
17 | g.745861G= | CA2242474451 | GEMIN4 | c.2182C= (p.Leu728=) c.2149C= (p.Leu717=) c.2194C= (p.Leu732=) | |
17 | g.745861G>T | CA397505365 | GEMIN4 | c.2182C>A (p.Leu728Ile) c.2149C>A (p.Leu717Ile) c.2194C>A (p.Leu732Ile) | |
17 | g.745862A>C | CA397505367 | GEMIN4 | c.2181T>G (p.Asp727Glu) c.2148T>G (p.Asp716Glu) c.2193T>G (p.Asp731Glu) | |
17 | g.745862A>G | CA497383638 | GEMIN4 | c.2181T>C (p.Asp727=) c.2148T>C (p.Asp716=) c.2193T>C (p.Asp731=) | |
17 | g.745862A>T | CA397505369 | GEMIN4 | c.2181T>A (p.Asp727Glu) c.2148T>A (p.Asp716Glu) c.2193T>A (p.Asp731Glu) | |
17 | g.745863T>A | CA8262465 | GEMIN4 | c.2180A>T (p.Asp727Val) c.2147A>T (p.Asp716Val) c.2192A>T (p.Asp731Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745863T>C | CA397505372 | GEMIN4 | c.2180A>G (p.Asp727Gly) c.2147A>G (p.Asp716Gly) c.2192A>G (p.Asp731Gly) | |
17 | g.745863T>G | CA397505374 | GEMIN4 | c.2180A>C (p.Asp727Ala) c.2147A>C (p.Asp716Ala) c.2192A>C (p.Asp731Ala) | |
17 | g.745863T= | CA2242474452 | GEMIN4 | c.2180A= (p.Asp727=) c.2147A= (p.Asp716=) c.2192A= (p.Asp731=) | |
17 | g.745864C>A | CA397505375 | GEMIN4 | c.2179G>T (p.Asp727Tyr) c.2146G>T (p.Asp716Tyr) c.2191G>T (p.Asp731Tyr) | gnomAD v4 |
17 | g.745864C>G | CA397505376 | GEMIN4 | c.2179G>C (p.Asp727His) c.2146G>C (p.Asp716His) c.2191G>C (p.Asp731His) | |
17 | g.745864C>T | CA397505377 | GEMIN4 | c.2179G>A (p.Asp727Asn) c.2146G>A (p.Asp716Asn) c.2191G>A (p.Asp731Asn) | |
17 | g.745865del | CA645586971 | GEMIN4 | c.2179del (p.Asp727IlefsTer2) c.2146del (p.Asp716IlefsTer2) c.2191del (p.Asp731IlefsTer2) | COSMIC COSMIC |
17 | g.745865C>A | CA397505379 | GEMIN4 | c.2178G>T (p.Lys726Asn) c.2145G>T (p.Lys715Asn) c.2190G>T (p.Lys730Asn) | |
17 | g.745865C= | CA2242474453 | GEMIN4 | c.2178G= (p.Lys726=) c.2145G= (p.Lys715=) c.2190G= (p.Lys730=) | |
17 | g.745865C>G | CA397505383 | GEMIN4 | c.2178G>C (p.Lys726Asn) c.2145G>C (p.Lys715Asn) c.2190G>C (p.Lys730Asn) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745865C>T | CA497383640 | GEMIN4 | c.2178G>A (p.Lys726=) c.2145G>A (p.Lys715=) c.2190G>A (p.Lys730=) | dbSNP gnomAD v4 |
17 | g.745866T>A | CA397505385 | GEMIN4 | c.2177A>T (p.Lys726Met) c.2144A>T (p.Lys715Met) c.2189A>T (p.Lys730Met) | |
17 | g.745866T>C | CA397505387 | GEMIN4 | c.2177A>G (p.Lys726Arg) c.2144A>G (p.Lys715Arg) c.2189A>G (p.Lys730Arg) | |
17 | g.745866T>G | CA397505389 | GEMIN4 | c.2177A>C (p.Lys726Thr) c.2144A>C (p.Lys715Thr) c.2189A>C (p.Lys730Thr) | |
17 | g.745867T>A | CA397505395 | GEMIN4 | c.2176A>T (p.Lys726Ter) c.2143A>T (p.Lys715Ter) c.2188A>T (p.Lys730Ter) | |
17 | g.745867T>C | CA397505391 | GEMIN4 | c.2176A>G (p.Lys726Glu) c.2143A>G (p.Lys715Glu) c.2188A>G (p.Lys730Glu) | |
17 | g.745867T>G | CA397505393 | GEMIN4 | c.2176A>C (p.Lys726Gln) c.2143A>C (p.Lys715Gln) c.2188A>C (p.Lys730Gln) | |
17 | g.745868C>A | CA397505397 | GEMIN4 | c.2175G>T (p.Arg725Ser) c.2142G>T (p.Arg714Ser) c.2187G>T (p.Arg729Ser) | |
17 | g.745868C= | CA2242474454 | GEMIN4 | c.2175G= (p.Arg725=) c.2142G= (p.Arg714=) c.2187G= (p.Arg729=) | |
17 | g.745868C>G | CA397505398 | GEMIN4 | c.2175G>C (p.Arg725Ser) c.2142G>C (p.Arg714Ser) c.2187G>C (p.Arg729Ser) | dbSNP |
17 | g.745868C>T | CA497383642 | GEMIN4 | c.2175G>A (p.Arg725=) c.2142G>A (p.Arg714=) c.2187G>A (p.Arg729=) | |
17 | g.745869C>A | CA397505401 | GEMIN4 | c.2174G>T (p.Arg725Met) c.2141G>T (p.Arg714Met) c.2186G>T (p.Arg729Met) | |
17 | g.745869C>G | CA397505402 | GEMIN4 | c.2174G>C (p.Arg725Thr) c.2141G>C (p.Arg714Thr) c.2186G>C (p.Arg729Thr) | |
17 | g.745869C>T | CA397505403 | GEMIN4 | c.2174G>A (p.Arg725Lys) c.2141G>A (p.Arg714Lys) c.2186G>A (p.Arg729Lys) | |
17 | g.745870T>A | CA397505404 | GEMIN4 | c.2173A>T (p.Arg725Trp) c.2140A>T (p.Arg714Trp) c.2185A>T (p.Arg729Trp) | |
17 | g.745870T>C | CA397505406 | GEMIN4 | c.2173A>G (p.Arg725Gly) c.2140A>G (p.Arg714Gly) c.2185A>G (p.Arg729Gly) | |
17 | g.745870T>G | CA497383643 | GEMIN4 | c.2173A>C (p.Arg725=) c.2140A>C (p.Arg714=) c.2185A>C (p.Arg729=) | |
17 | g.745871A>C | CA397505409 | GEMIN4 | c.2172T>G (p.Asp724Glu) c.2139T>G (p.Asp713Glu) c.2184T>G (p.Asp728Glu) | |
17 | g.745871A>G | CA497383644 | GEMIN4 | c.2172T>C (p.Asp724=) c.2139T>C (p.Asp713=) c.2184T>C (p.Asp728=) | |
17 | g.745871A>T | CA397505410 | GEMIN4 | c.2172T>A (p.Asp724Glu) c.2139T>A (p.Asp713Glu) c.2184T>A (p.Asp728Glu) | |
17 | g.745872T>A | CA397505411 | GEMIN4 | c.2171A>T (p.Asp724Val) c.2138A>T (p.Asp713Val) c.2183A>T (p.Asp728Val) | |
17 | g.745872T>C | CA397505416 | GEMIN4 | c.2171A>G (p.Asp724Gly) c.2138A>G (p.Asp713Gly) c.2183A>G (p.Asp728Gly) | dbSNP gnomAD v4 |
17 | g.745872T>G | CA397505417 | GEMIN4 | c.2171A>C (p.Asp724Ala) c.2138A>C (p.Asp713Ala) c.2183A>C (p.Asp728Ala) | |
17 | g.745872T= | CA2242474455 | GEMIN4 | c.2171A= (p.Asp724=) c.2138A= (p.Asp713=) c.2183A= (p.Asp728=) | |
17 | g.745873C>A | CA397505421 | GEMIN4 | c.2170G>T (p.Asp724Tyr) c.2137G>T (p.Asp713Tyr) c.2182G>T (p.Asp728Tyr) | |
17 | g.745873C>G | CA397505422 | GEMIN4 | c.2170G>C (p.Asp724His) c.2137G>C (p.Asp713His) c.2182G>C (p.Asp728His) | |
17 | g.745873C>T | CA397505419 | GEMIN4 | c.2170G>A (p.Asp724Asn) c.2137G>A (p.Asp713Asn) c.2182G>A (p.Asp728Asn) | |
17 | g.745874C>A | CA397505424 | GEMIN4 | c.2169G>T (p.Leu723Phe) c.2136G>T (p.Leu712Phe) c.2181G>T (p.Leu727Phe) | |
17 | g.745874C>G | CA397505423 | GEMIN4 | c.2169G>C (p.Leu723Phe) c.2136G>C (p.Leu712Phe) c.2181G>C (p.Leu727Phe) | |
17 | g.745874C>T | CA497383645 | GEMIN4 | c.2169G>A (p.Leu723=) c.2136G>A (p.Leu712=) c.2181G>A (p.Leu727=) | |
17 | g.745875A>C | CA397505430 | GEMIN4 | c.2168T>G (p.Leu723Trp) c.2135T>G (p.Leu712Trp) c.2180T>G (p.Leu727Trp) | |
17 | g.745875A>G | CA397505426 | GEMIN4 | c.2168T>C (p.Leu723Ser) c.2135T>C (p.Leu712Ser) c.2180T>C (p.Leu727Ser) | |
17 | g.745875A>T | CA397505428 | GEMIN4 | c.2168T>A (p.Leu723Ter) c.2135T>A (p.Leu712Ter) c.2180T>A (p.Leu727Ter) | |
17 | g.745876A>C | CA397505432 | GEMIN4 | c.2167T>G (p.Leu723Val) c.2134T>G (p.Leu712Val) c.2179T>G (p.Leu727Val) | |
17 | g.745876A>G | CA497383647 | GEMIN4 | c.2167T>C (p.Leu723=) c.2134T>C (p.Leu712=) c.2179T>C (p.Leu727=) | |
17 | g.745876A>T | CA397505434 | GEMIN4 | c.2167T>A (p.Leu723Met) c.2134T>A (p.Leu712Met) c.2179T>A (p.Leu727Met) | |
17 | g.745877A>C | CA497383648 | GEMIN4 | c.2166T>G (p.Ser722=) c.2133T>G (p.Ser711=) c.2178T>G (p.Ser726=) | |
17 | g.745877A>G | CA497383649 | GEMIN4 | c.2166T>C (p.Ser722=) c.2133T>C (p.Ser711=) c.2178T>C (p.Ser726=) | |
17 | g.745877A>T | CA497383651 | GEMIN4 | c.2166T>A (p.Ser722=) c.2133T>A (p.Ser711=) c.2178T>A (p.Ser726=) | |
17 | g.745881_745882del | CA2520583288 | GEMIN4 | c.2165_2166del (p.Ser722PhefsTer3) c.2132_2133del (p.Ser711PhefsTer3) c.2177_2178del (p.Ser726PhefsTer3) | gnomAD v4 |
17 | g.745878G>A | CA397505436 | GEMIN4 | c.2165C>T (p.Ser722Phe) c.2132C>T (p.Ser711Phe) c.2177C>T (p.Ser726Phe) | gnomAD v4 |
17 | g.745878G>C | CA397505438 | GEMIN4 | c.2165C>G (p.Ser722Cys) c.2132C>G (p.Ser711Cys) c.2177C>G (p.Ser726Cys) | |
17 | g.745878G= | CA2242474456 | GEMIN4 | c.2165C= (p.Ser722=) c.2132C= (p.Ser711=) c.2177C= (p.Ser726=) | |
17 | g.745878G>T | CA8262466 | GEMIN4 | c.2165C>A (p.Ser722Tyr) c.2132C>A (p.Ser711Tyr) c.2177C>A (p.Ser726Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745879A= | CA2242474457 | GEMIN4 | c.2164T= (p.Ser722=) c.2131T= (p.Ser711=) c.2176T= (p.Ser726=) | |
17 | g.745879A>C | CA397505441 | GEMIN4 | c.2164T>G (p.Ser722Ala) c.2131T>G (p.Ser711Ala) c.2176T>G (p.Ser726Ala) | |
17 | g.745879A>G | CA8262467 | GEMIN4 | c.2164T>C (p.Ser722Pro) c.2131T>C (p.Ser711Pro) c.2176T>C (p.Ser726Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745879A>T | CA397505446 | GEMIN4 | c.2164T>A (p.Ser722Thr) c.2131T>A (p.Ser711Thr) c.2176T>A (p.Ser726Thr) | |
17 | g.745880G>A | CA8262469 | GEMIN4 | c.2163C>T (p.Leu721=) c.2130C>T (p.Leu710=) c.2175C>T (p.Leu725=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745880G>C | CA8262468 | GEMIN4 | c.2163C>G (p.Leu721=) c.2130C>G (p.Leu710=) c.2175C>G (p.Leu725=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745880G= | CA2242474458 | GEMIN4 | c.2163C= (p.Leu721=) c.2130C= (p.Leu710=) c.2175C= (p.Leu725=) | |
17 | g.745880G>T | CA497383652 | GEMIN4 | c.2163C>A (p.Leu721=) c.2130C>A (p.Leu710=) c.2175C>A (p.Leu725=) | gnomAD v4 |
17 | g.745881A>C | CA397505453 | GEMIN4 | c.2162T>G (p.Leu721Arg) c.2129T>G (p.Leu710Arg) c.2174T>G (p.Leu725Arg) | |
17 | g.745881A>G | CA397505450 | GEMIN4 | c.2162T>C (p.Leu721Pro) c.2129T>C (p.Leu710Pro) c.2174T>C (p.Leu725Pro) | gnomAD v4 |
17 | g.745881A>T | CA397505452 | GEMIN4 | c.2162T>A (p.Leu721His) c.2129T>A (p.Leu710His) c.2174T>A (p.Leu725His) | |
17 | g.745881_745882delinsAG | CA2242474459 | GEMIN4 | c.2161_2162delinsCT (p.Leu721=) c.2128_2129delinsCT (p.Leu710=) c.2173_2174delinsCT (p.Leu725=) | |
17 | g.745882G>A | CA397505455 | GEMIN4 | c.2161C>T (p.Leu721Phe) c.2128C>T (p.Leu710Phe) c.2173C>T (p.Leu725Phe) | |
17 | g.745882G>C | CA397505456 | GEMIN4 | c.2161C>G (p.Leu721Val) c.2128C>G (p.Leu710Val) c.2173C>G (p.Leu725Val) | |
17 | g.745882G>T | CA397505458 | GEMIN4 | c.2161C>A (p.Leu721Ile) c.2128C>A (p.Leu710Ile) c.2173C>A (p.Leu725Ile) | |
17 | g.745883del | CA774955055 | GEMIN4 | c.2161del (p.Leu721SerfsTer8) c.2128del (p.Leu710SerfsTer8) c.2173del (p.Leu725SerfsTer8) | dbSNP |
17 | g.745883G>A | CA286713665 | GEMIN4 | c.2160C>T (p.Cys720=) c.2127C>T (p.Cys709=) c.2172C>T (p.Cys724=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745883G>C | CA397505460 | GEMIN4 | c.2160C>G (p.Cys720Trp) c.2127C>G (p.Cys709Trp) c.2172C>G (p.Cys724Trp) | |
17 | g.745883G= | CA2242474460 | GEMIN4 | c.2160C= (p.Cys720=) c.2127C= (p.Cys709=) c.2172C= (p.Cys724=) | |
17 | g.745883G>T | CA397505462 | GEMIN4 | c.2160C>A (p.Cys720Ter) c.2127C>A (p.Cys709Ter) c.2172C>A (p.Cys724Ter) | dbSNP |
17 | g.745884C>A | CA397505464 | GEMIN4 | c.2159G>T (p.Cys720Phe) c.2126G>T (p.Cys709Phe) c.2171G>T (p.Cys724Phe) | |
17 | g.745884C>G | CA397505465 | GEMIN4 | c.2159G>C (p.Cys720Ser) c.2126G>C (p.Cys709Ser) c.2171G>C (p.Cys724Ser) | |
17 | g.745884C>T | CA397505466 | GEMIN4 | c.2159G>A (p.Cys720Tyr) c.2126G>A (p.Cys709Tyr) c.2171G>A (p.Cys724Tyr) | gnomAD v4 |