Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |