Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
17 | g.745885A>C | CA397505467 | GEMIN4 | c.2158T>G (p.Cys720Gly) c.2125T>G (p.Cys709Gly) c.2170T>G (p.Cys724Gly) | |
17 | g.745885A>G | CA397505469 | GEMIN4 | c.2158T>C (p.Cys720Arg) c.2125T>C (p.Cys709Arg) c.2170T>C (p.Cys724Arg) | COSMIC COSMIC |
17 | g.745885A>T | CA397505470 | GEMIN4 | c.2158T>A (p.Cys720Ser) c.2125T>A (p.Cys709Ser) c.2170T>A (p.Cys724Ser) | |
17 | g.745886C>A | CA497383658 | GEMIN4 | c.2157G>T (p.Arg719=) c.2124G>T (p.Arg708=) c.2169G>T (p.Arg723=) | |
17 | g.745886C>G | CA497383659 | GEMIN4 | c.2157G>C (p.Arg719=) c.2124G>C (p.Arg708=) c.2169G>C (p.Arg723=) | |
17 | g.745886C>T | CA497383657 | GEMIN4 | c.2157G>A (p.Arg719=) c.2124G>A (p.Arg708=) c.2169G>A (p.Arg723=) | |
17 | g.745886_745887insTGTGCTAGGTGGTACACAGGTAAGAT | CA2635153268 | GEMIN4 | c.2156_2157insATCTTACCTGTGTACCACCTAGCACA (p.Cys720SerfsTer7) c.2123_2124insATCTTACCTGTGTACCACCTAGCACA (p.Cys709SerfsTer7) c.2168_2169insATCTTACCTGTGTACCACCTAGCACA (p.Cys724SerfsTer7) | gnomAD v4 |
17 | g.745887C>A | CA397505477 | GEMIN4 | c.2156G>T (p.Arg719Leu) c.2123G>T (p.Arg708Leu) c.2168G>T (p.Arg723Leu) | |
17 | g.745887C= | CA2242474461 | GEMIN4 | c.2156G= (p.Arg719=) c.2123G= (p.Arg708=) c.2168G= (p.Arg723=) | |
17 | g.745887C>G | CA397505475 | GEMIN4 | c.2156G>C (p.Arg719Pro) c.2123G>C (p.Arg708Pro) c.2168G>C (p.Arg723Pro) | |
17 | g.745887C>T | CA8262470 | GEMIN4 | c.2156G>A (p.Arg719Gln) c.2123G>A (p.Arg708Gln) c.2168G>A (p.Arg723Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745888G>A | CA8262471 | GEMIN4 | c.2155C>T (p.Arg719Trp) c.2122C>T (p.Arg708Trp) c.2167C>T (p.Arg723Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745888G>C | CA397505479 | GEMIN4 | c.2155C>G (p.Arg719Gly) c.2122C>G (p.Arg708Gly) c.2167C>G (p.Arg723Gly) | |
17 | g.745888G= | CA2242474462 | GEMIN4 | c.2155C= (p.Arg719=) c.2122C= (p.Arg708=) c.2167C= (p.Arg723=) | |
17 | g.745888G>T | CA497383661 | GEMIN4 | c.2155C>A (p.Arg719=) c.2122C>A (p.Arg708=) c.2167C>A (p.Arg723=) | gnomAD v4 |
17 | g.745889C>A | CA397505480 | GEMIN4 | c.2154G>T (p.Lys718Asn) c.2121G>T (p.Lys707Asn) c.2166G>T (p.Lys722Asn) | dbSNP |
17 | g.745889C= | CA2242474463 | GEMIN4 | c.2154G= (p.Lys718=) c.2121G= (p.Lys707=) c.2166G= (p.Lys722=) | |
17 | g.745889C>G | CA397505481 | GEMIN4 | c.2154G>C (p.Lys718Asn) c.2121G>C (p.Lys707Asn) c.2166G>C (p.Lys722Asn) | |
17 | g.745889C>T | CA497383662 | GEMIN4 | c.2154G>A (p.Lys718=) c.2121G>A (p.Lys707=) c.2166G>A (p.Lys722=) | dbSNP |
17 | g.745890T>A | CA397505484 | GEMIN4 | c.2153A>T (p.Lys718Met) c.2120A>T (p.Lys707Met) c.2165A>T (p.Lys722Met) | |
17 | g.745890T>C | CA397505485 | GEMIN4 | c.2153A>G (p.Lys718Arg) c.2120A>G (p.Lys707Arg) c.2165A>G (p.Lys722Arg) | |
17 | g.745890T>G | CA397505486 | GEMIN4 | c.2153A>C (p.Lys718Thr) c.2120A>C (p.Lys707Thr) c.2165A>C (p.Lys722Thr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745890T= | CA2242474464 | GEMIN4 | c.2153A= (p.Lys718=) c.2120A= (p.Lys707=) c.2165A= (p.Lys722=) | |
17 | g.745891T>A | CA397505489 | GEMIN4 | c.2152A>T (p.Lys718Ter) c.2119A>T (p.Lys707Ter) c.2164A>T (p.Lys722Ter) | |
17 | g.745891T>C | CA397505491 | GEMIN4 | c.2152A>G (p.Lys718Glu) c.2119A>G (p.Lys707Glu) c.2164A>G (p.Lys722Glu) | |
17 | g.745891T>G | CA397505493 | GEMIN4 | c.2152A>C (p.Lys718Gln) c.2119A>C (p.Lys707Gln) c.2164A>C (p.Lys722Gln) | gnomAD v4 |
17 | g.745891_745892insA | CA2808150948 | GEMIN4 | c.2151_2152insT (p.Lys718Ter) c.2118_2119insT (p.Lys707Ter) c.2163_2164insT (p.Lys722Ter) | |
17 | g.745892C>A | CA397505495 | GEMIN4 | c.2151G>T (p.Glu717Asp) c.2118G>T (p.Glu706Asp) c.2163G>T (p.Glu721Asp) | |
17 | g.745892C>G | CA397505497 | GEMIN4 | c.2151G>C (p.Glu717Asp) c.2118G>C (p.Glu706Asp) c.2163G>C (p.Glu721Asp) | |
17 | g.745892C>T | CA497383664 | GEMIN4 | c.2151G>A (p.Glu717=) c.2118G>A (p.Glu706=) c.2163G>A (p.Glu721=) | gnomAD v4 |
17 | g.745894_745896del | CA2635153277 | GEMIN4 | c.2149_2151del (p.Glu717del) c.2116_2118del (p.Glu706del) c.2161_2163del (p.Glu721del) | gnomAD v4 |
17 | g.745893T>A | CA397505503 | GEMIN4 | c.2150A>T (p.Glu717Val) c.2117A>T (p.Glu706Val) c.2162A>T (p.Glu721Val) | |
17 | g.745893T>C | CA397505500 | GEMIN4 | c.2150A>G (p.Glu717Gly) c.2117A>G (p.Glu706Gly) c.2162A>G (p.Glu721Gly) | COSMIC COSMIC |
17 | g.745893T>G | CA397505501 | GEMIN4 | c.2150A>C (p.Glu717Ala) c.2117A>C (p.Glu706Ala) c.2162A>C (p.Glu721Ala) | |
17 | g.745894C>A | CA397505506 | GEMIN4 | c.2149G>T (p.Glu717Ter) c.2116G>T (p.Glu706Ter) c.2161G>T (p.Glu721Ter) | |
17 | g.745894C>G | CA397505507 | GEMIN4 | c.2149G>C (p.Glu717Gln) c.2116G>C (p.Glu706Gln) c.2161G>C (p.Glu721Gln) | |
17 | g.745894C>T | CA397505508 | GEMIN4 | c.2149G>A (p.Glu717Lys) c.2116G>A (p.Glu706Lys) c.2161G>A (p.Glu721Lys) | |
17 | g.745895C>A | CA397505511 | GEMIN4 | c.2148G>T (p.Lys716Asn) c.2115G>T (p.Lys705Asn) c.2160G>T (p.Lys720Asn) | |
17 | g.745895C= | CA2242474465 | GEMIN4 | c.2148G= (p.Lys716=) c.2115G= (p.Lys705=) c.2160G= (p.Lys720=) | |
17 | g.745895C>G | CA397505512 | GEMIN4 | c.2148G>C (p.Lys716Asn) c.2115G>C (p.Lys705Asn) c.2160G>C (p.Lys720Asn) | |
17 | g.745895C>T | CA8262472 | GEMIN4 | c.2148G>A (p.Lys716=) c.2115G>A (p.Lys705=) c.2160G>A (p.Lys720=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745896T>A | CA397505516 | GEMIN4 | c.2147A>T (p.Lys716Met) c.2114A>T (p.Lys705Met) c.2159A>T (p.Lys720Met) | |
17 | g.745896T>C | CA397505518 | GEMIN4 | c.2147A>G (p.Lys716Arg) c.2114A>G (p.Lys705Arg) c.2159A>G (p.Lys720Arg) | |
17 | g.745896T>G | CA397505519 | GEMIN4 | c.2147A>C (p.Lys716Thr) c.2114A>C (p.Lys705Thr) c.2159A>C (p.Lys720Thr) | |
17 | g.745896_745897dup | CA774955099 | GEMIN4 | c.2146_2147dup (p.Glu717ArgfsTer13) c.2113_2114dup (p.Glu706ArgfsTer13) c.2158_2159dup (p.Glu721ArgfsTer13) | dbSNP gnomAD v4 |
17 | g.745897T>A | CA397505521 | GEMIN4 | c.2146A>T (p.Lys716Ter) c.2113A>T (p.Lys705Ter) c.2158A>T (p.Lys720Ter) | |
17 | g.745897T>C | CA397505523 | GEMIN4 | c.2146A>G (p.Lys716Glu) c.2113A>G (p.Lys705Glu) c.2158A>G (p.Lys720Glu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745897T>G | CA8262473 | GEMIN4 | c.2146A>C (p.Lys716Gln) c.2113A>C (p.Lys705Gln) c.2158A>C (p.Lys720Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745897T= | CA2242474466 | GEMIN4 | c.2146A= (p.Lys716=) c.2113A= (p.Lys705=) c.2158A= (p.Lys720=) | |
17 | g.745898G>A | CA497383668 | GEMIN4 | c.2145C>T (p.Pro715=) c.2112C>T (p.Pro704=) c.2157C>T (p.Pro719=) | gnomAD v4 |
17 | g.745898G>C | CA497383670 | GEMIN4 | c.2145C>G (p.Pro715=) c.2112C>G (p.Pro704=) c.2157C>G (p.Pro719=) | dbSNP gnomAD v4 |
17 | g.745898G= | CA2242474467 | GEMIN4 | c.2145C= (p.Pro715=) c.2112C= (p.Pro704=) c.2157C= (p.Pro719=) | |
17 | g.745898G>T | CA497383669 | GEMIN4 | c.2145C>A (p.Pro715=) c.2112C>A (p.Pro704=) c.2157C>A (p.Pro719=) | gnomAD v4 |
17 | g.745899G>A | CA397505528 | GEMIN4 | c.2144C>T (p.Pro715Leu) c.2111C>T (p.Pro704Leu) c.2156C>T (p.Pro719Leu) | |
17 | g.745899G>C | CA397505529 | GEMIN4 | c.2144C>G (p.Pro715Arg) c.2111C>G (p.Pro704Arg) c.2156C>G (p.Pro719Arg) | |
17 | g.745899G= | CA2242474468 | GEMIN4 | c.2144C= (p.Pro715=) c.2111C= (p.Pro704=) c.2156C= (p.Pro719=) | |
17 | g.745899G>T | CA397505527 | GEMIN4 | c.2144C>A (p.Pro715His) c.2111C>A (p.Pro704His) c.2156C>A (p.Pro719His) | |
17 | g.745899_745900insACTCC | CA8262474 | GEMIN4 | c.2143_2144insGGAGT (p.Pro715ArgfsTer16) c.2110_2111insGGAGT (p.Pro704ArgfsTer16) c.2155_2156insGGAGT (p.Pro719ArgfsTer16) | dbSNP ExAC gnomAD v2 |
17 | g.745900G>A | CA397505532 | GEMIN4 | c.2143C>T (p.Pro715Ser) c.2110C>T (p.Pro704Ser) c.2155C>T (p.Pro719Ser) | |
17 | g.745900G>C | CA397505534 | GEMIN4 | c.2143C>G (p.Pro715Ala) c.2110C>G (p.Pro704Ala) c.2155C>G (p.Pro719Ala) | |
17 | g.745900G= | CA2242474469 | GEMIN4 | c.2143C= (p.Pro715=) c.2110C= (p.Pro704=) c.2155C= (p.Pro719=) | |
17 | g.745900G>T | CA397505536 | GEMIN4 | c.2143C>A (p.Pro715Thr) c.2110C>A (p.Pro704Thr) c.2155C>A (p.Pro719Thr) | |
17 | g.745900_745901insTCTCAAAAAATAAAAATAAAATA | CA8262475 | GEMIN4 | c.2142_2143insTATTTTATTTTTATTTTTTGAGA (p.Pro715TyrfsTer7) c.2109_2110insTATTTTATTTTTATTTTTTGAGA (p.Pro704TyrfsTer7) c.2154_2155insTATTTTATTTTTATTTTTTGAGA (p.Pro719TyrfsTer7) | dbSNP ExAC |
17 | g.745900_745901insTCTCAAAAAATAAAAATAAAATAAAT | CA624456765 | GEMIN4 | c.2142_2143insATTTATTTTATTTTTATTTTTTGAGA (p.Pro715IlefsTer8) c.2109_2110insATTTATTTTATTTTTATTTTTTGAGA (p.Pro704IlefsTer8) c.2154_2155insATTTATTTTATTTTTATTTTTTGAGA (p.Pro719IlefsTer8) | dbSNP gnomAD v2 |
17 | g.745901A= | CA2242474471 | GEMIN4 | c.2142T= (p.Leu714=) c.2109T= (p.Leu703=) c.2154T= (p.Leu718=) | |
17 | g.745901A>C | CA497383675 | GEMIN4 | c.2142T>G (p.Leu714=) c.2109T>G (p.Leu703=) c.2154T>G (p.Leu718=) | |
17 | g.745901A>G | CA286713666 | GEMIN4 | c.2142T>C (p.Leu714=) c.2109T>C (p.Leu703=) c.2154T>C (p.Leu718=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745901A>T | CA497383676 | GEMIN4 | c.2142T>A (p.Leu714=) c.2109T>A (p.Leu703=) c.2154T>A (p.Leu718=) | |
17 | g.745901_745915delinsAAGCTGCCAGTATTT | CA2242474470 | GEMIN4 | c.2128_2142delinsAAATACTGGCAGCTT (p.Lys710=) c.2095_2109delinsAAATACTGGCAGCTT (p.Lys699=) c.2140_2154delinsAAATACTGGCAGCTT (p.Lys714=) | |
17 | g.745902A>C | CA397505540 | GEMIN4 | c.2141T>G (p.Leu714Arg) c.2108T>G (p.Leu703Arg) c.2153T>G (p.Leu718Arg) | |
17 | g.745902A>G | CA397505542 | GEMIN4 | c.2141T>C (p.Leu714Pro) c.2108T>C (p.Leu703Pro) c.2153T>C (p.Leu718Pro) | |
17 | g.745902A>T | CA397505544 | GEMIN4 | c.2141T>A (p.Leu714His) c.2108T>A (p.Leu703His) c.2153T>A (p.Leu718His) | |
17 | g.745902_745915del | CA2242474472 | GEMIN4 | c.2128_2141del (p.Lys710SerfsTer11) c.2095_2108del (p.Lys699SerfsTer11) c.2140_2153del (p.Lys714SerfsTer11) | dbSNP |
17 | g.745903G>A | CA8262477 | GEMIN4 | c.2140C>T (p.Leu714Phe) c.2107C>T (p.Leu703Phe) c.2152C>T (p.Leu718Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745903G>C | CA397505550 | GEMIN4 | c.2140C>G (p.Leu714Val) c.2107C>G (p.Leu703Val) c.2152C>G (p.Leu718Val) | |
17 | g.745903G= | CA2242474473 | GEMIN4 | c.2140C= (p.Leu714=) c.2107C= (p.Leu703=) c.2152C= (p.Leu718=) | |
17 | g.745903G>T | CA8262476 | GEMIN4 | c.2140C>A (p.Leu714Ile) c.2107C>A (p.Leu703Ile) c.2152C>A (p.Leu718Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745904C>A | CA397505554 | GEMIN4 | c.2139G>T (p.Gln713His) c.2106G>T (p.Gln702His) c.2151G>T (p.Gln717His) | |
17 | g.745904C= | CA2242474474 | GEMIN4 | c.2139G= (p.Gln713=) c.2106G= (p.Gln702=) c.2151G= (p.Gln717=) | |
17 | g.745904C>G | CA397505556 | GEMIN4 | c.2139G>C (p.Gln713His) c.2106G>C (p.Gln702His) c.2151G>C (p.Gln717His) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745904C>T | CA497383678 | GEMIN4 | c.2139G>A (p.Gln713=) c.2106G>A (p.Gln702=) c.2151G>A (p.Gln717=) | |
17 | g.745905T>A | CA397505563 | GEMIN4 | c.2138A>T (p.Gln713Leu) c.2105A>T (p.Gln702Leu) c.2150A>T (p.Gln717Leu) | |
17 | g.745905T>C | CA397505559 | GEMIN4 | c.2138A>G (p.Gln713Arg) c.2105A>G (p.Gln702Arg) c.2150A>G (p.Gln717Arg) | |
17 | g.745905T>G | CA397505561 | GEMIN4 | c.2138A>C (p.Gln713Pro) c.2105A>C (p.Gln702Pro) c.2150A>C (p.Gln717Pro) | |
17 | g.745906G>A | CA397505565 | GEMIN4 | c.2137C>T (p.Gln713Ter) c.2104C>T (p.Gln702Ter) c.2149C>T (p.Gln717Ter) | gnomAD v4 COSMIC COSMIC |
17 | g.745906G>C | CA397505567 | GEMIN4 | c.2137C>G (p.Gln713Glu) c.2104C>G (p.Gln702Glu) c.2149C>G (p.Gln717Glu) | |
17 | g.745906G>T | CA397505569 | GEMIN4 | c.2137C>A (p.Gln713Lys) c.2104C>A (p.Gln702Lys) c.2149C>A (p.Gln717Lys) | |
17 | g.745907C>A | CA397505571 | GEMIN4 | c.2136G>T (p.Trp712Cys) c.2103G>T (p.Trp701Cys) c.2148G>T (p.Trp716Cys) | |
17 | g.745907C>G | CA397505573 | GEMIN4 | c.2136G>C (p.Trp712Cys) c.2103G>C (p.Trp701Cys) c.2148G>C (p.Trp716Cys) | |
17 | g.745907C>T | CA397505575 | GEMIN4 | c.2136G>A (p.Trp712Ter) c.2103G>A (p.Trp701Ter) c.2148G>A (p.Trp716Ter) | |
17 | g.745908C>A | CA397505577 | GEMIN4 | c.2135G>T (p.Trp712Leu) c.2102G>T (p.Trp701Leu) c.2147G>T (p.Trp716Leu) | |
17 | g.745908C>G | CA397505579 | GEMIN4 | c.2135G>C (p.Trp712Ser) c.2102G>C (p.Trp701Ser) c.2147G>C (p.Trp716Ser) | |
17 | g.745908C>T | CA397505581 | GEMIN4 | c.2135G>A (p.Trp712Ter) c.2102G>A (p.Trp701Ter) c.2147G>A (p.Trp716Ter) | |
17 | g.745909A>C | CA397505584 | GEMIN4 | c.2134T>G (p.Trp712Gly) c.2101T>G (p.Trp701Gly) c.2146T>G (p.Trp716Gly) | |
17 | g.745909A>G | CA397505586 | GEMIN4 | c.2134T>C (p.Trp712Arg) c.2101T>C (p.Trp701Arg) c.2146T>C (p.Trp716Arg) | |
17 | g.745909A>T | CA397505587 | GEMIN4 | c.2134T>A (p.Trp712Arg) c.2101T>A (p.Trp701Arg) c.2146T>A (p.Trp716Arg) | |
17 | g.745910G>A | CA8262478 | GEMIN4 | c.2133C>T (p.Tyr711=) c.2100C>T (p.Tyr700=) c.2145C>T (p.Tyr715=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745910G>C | CA397505592 | GEMIN4 | c.2133C>G (p.Tyr711Ter) c.2100C>G (p.Tyr700Ter) c.2145C>G (p.Tyr715Ter) | |
17 | g.745910G= | CA2242474475 | GEMIN4 | c.2133C= (p.Tyr711=) c.2100C= (p.Tyr700=) c.2145C= (p.Tyr715=) | |
17 | g.745910G>T | CA397505590 | GEMIN4 | c.2133C>A (p.Tyr711Ter) c.2100C>A (p.Tyr700Ter) c.2145C>A (p.Tyr715Ter) | |
17 | g.745911T>A | CA397505596 | GEMIN4 | c.2132A>T (p.Tyr711Phe) c.2099A>T (p.Tyr700Phe) c.2144A>T (p.Tyr715Phe) | |
17 | g.745911T>C | CA397505597 | GEMIN4 | c.2132A>G (p.Tyr711Cys) c.2099A>G (p.Tyr700Cys) c.2144A>G (p.Tyr715Cys) | |
17 | g.745911T>G | CA397505599 | GEMIN4 | c.2132A>C (p.Tyr711Ser) c.2099A>C (p.Tyr700Ser) c.2144A>C (p.Tyr715Ser) | |
17 | g.745912A= | CA2242474476 | GEMIN4 | c.2131T= (p.Tyr711=) c.2098T= (p.Tyr700=) c.2143T= (p.Tyr715=) | |
17 | g.745912A>C | CA397505601 | GEMIN4 | c.2131T>G (p.Tyr711Asp) c.2098T>G (p.Tyr700Asp) c.2143T>G (p.Tyr715Asp) | |
17 | g.745912A>G | CA286713667 | GEMIN4 | c.2131T>C (p.Tyr711His) c.2098T>C (p.Tyr700His) c.2143T>C (p.Tyr715His) | dbSNP |
17 | g.745912A>T | CA397505605 | GEMIN4 | c.2131T>A (p.Tyr711Asn) c.2098T>A (p.Tyr700Asn) c.2143T>A (p.Tyr715Asn) | |
17 | g.745913T>A | CA397505606 | GEMIN4 | c.2130A>T (p.Lys710Asn) c.2097A>T (p.Lys699Asn) c.2142A>T (p.Lys714Asn) | |
17 | g.745913T>C | CA497383686 | GEMIN4 | c.2130A>G (p.Lys710=) c.2097A>G (p.Lys699=) c.2142A>G (p.Lys714=) | |
17 | g.745913T>G | CA397505608 | GEMIN4 | c.2130A>C (p.Lys710Asn) c.2097A>C (p.Lys699Asn) c.2142A>C (p.Lys714Asn) | |
17 | g.745914T>A | CA397505611 | GEMIN4 | c.2129A>T (p.Lys710Ile) c.2096A>T (p.Lys699Ile) c.2141A>T (p.Lys714Ile) | |
17 | g.745914T>C | CA397505613 | GEMIN4 | c.2129A>G (p.Lys710Arg) c.2096A>G (p.Lys699Arg) c.2141A>G (p.Lys714Arg) | |
17 | g.745914T>G | CA397505614 | GEMIN4 | c.2129A>C (p.Lys710Thr) c.2096A>C (p.Lys699Thr) c.2141A>C (p.Lys714Thr) | |
17 | g.745915T>A | CA397505615 | GEMIN4 | c.2128A>T (p.Lys710Ter) c.2095A>T (p.Lys699Ter) c.2140A>T (p.Lys714Ter) | |
17 | g.745915T>C | CA397505617 | GEMIN4 | c.2128A>G (p.Lys710Glu) c.2095A>G (p.Lys699Glu) c.2140A>G (p.Lys714Glu) | |
17 | g.745915T>G | CA397505618 | GEMIN4 | c.2128A>C (p.Lys710Gln) c.2095A>C (p.Lys699Gln) c.2140A>C (p.Lys714Gln) |