Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.745807T>ACA397504258GEMIN4c.2236A>T (p.Thr746Ser)
c.2203A>T (p.Thr735Ser)
c.2248A>T (p.Thr750Ser)
17g.745807T>CCA397504259GEMIN4c.2236A>G (p.Thr746Ala)
c.2203A>G (p.Thr735Ala)
c.2248A>G (p.Thr750Ala)
17g.745807T>GCA397504260GEMIN4c.2236A>C (p.Thr746Pro)
c.2203A>C (p.Thr735Pro)
c.2248A>C (p.Thr750Pro)
17g.745808C>ACA397504261GEMIN4c.2235G>T (p.Glu745Asp)
c.2202G>T (p.Glu734Asp)
c.2247G>T (p.Glu749Asp)
17g.745808C=CA2242474423GEMIN4c.2235G= (p.Glu745=)
c.2202G= (p.Glu734=)
c.2247G= (p.Glu749=)
17g.745808C>GCA397504262GEMIN4c.2235G>C (p.Glu745Asp)
c.2202G>C (p.Glu734Asp)
c.2247G>C (p.Glu749Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.745808C>TCA497384412GEMIN4c.2235G>A (p.Glu745=)
c.2202G>A (p.Glu734=)
c.2247G>A (p.Glu749=)
 gnomAD v4
17g.745809T>ACA397504263GEMIN4c.2234A>T (p.Glu745Val)
c.2201A>T (p.Glu734Val)
c.2246A>T (p.Glu749Val)
17g.745809T>CCA397504264GEMIN4c.2234A>G (p.Glu745Gly)
c.2201A>G (p.Glu734Gly)
c.2246A>G (p.Glu749Gly)
17g.745809T>GCA397504265GEMIN4c.2234A>C (p.Glu745Ala)
c.2201A>C (p.Glu734Ala)
c.2246A>C (p.Glu749Ala)
 dbSNP gnomAD v3 gnomAD v4
17g.745809T=CA2242474424GEMIN4c.2234A= (p.Glu745=)
c.2201A= (p.Glu734=)
c.2246A= (p.Glu749=)
17g.745810C>ACA397504267GEMIN4c.2233G>T (p.Glu745Ter)
c.2200G>T (p.Glu734Ter)
c.2245G>T (p.Glu749Ter)
17g.745810C=CA2242474425GEMIN4c.2233G= (p.Glu745=)
c.2200G= (p.Glu734=)
c.2245G= (p.Glu749=)
17g.745810C>GCA397504268GEMIN4c.2233G>C (p.Glu745Gln)
c.2200G>C (p.Glu734Gln)
c.2245G>C (p.Glu749Gln)
17g.745810C>TCA397504266GEMIN4c.2233G>A (p.Glu745Lys)
c.2200G>A (p.Glu734Lys)
c.2245G>A (p.Glu749Lys)
 dbSNP gnomAD v2 gnomAD v4
17g.745811A>CCA497384420GEMIN4c.2232T>G (p.Ala744=)
c.2199T>G (p.Ala733=)
c.2244T>G (p.Ala748=)
17g.745811A>GCA497384419GEMIN4c.2232T>C (p.Ala744=)
c.2199T>C (p.Ala733=)
c.2244T>C (p.Ala748=)
 gnomAD v4
17g.745811A>TCA497384418GEMIN4c.2232T>A (p.Ala744=)
c.2199T>A (p.Ala733=)
c.2244T>A (p.Ala748=)
17g.745812G>ACA397504269GEMIN4c.2231C>T (p.Ala744Val)
c.2198C>T (p.Ala733Val)
c.2243C>T (p.Ala748Val)
17g.745812G>CCA397504270GEMIN4c.2231C>G (p.Ala744Gly)
c.2198C>G (p.Ala733Gly)
c.2243C>G (p.Ala748Gly)
 gnomAD v4
17g.745812G>TCA397504271GEMIN4c.2231C>A (p.Ala744Asp)
c.2198C>A (p.Ala733Asp)
c.2243C>A (p.Ala748Asp)
17g.745813C>ACA397504272GEMIN4c.2230G>T (p.Ala744Ser)
c.2197G>T (p.Ala733Ser)
c.2242G>T (p.Ala748Ser)
 gnomAD v4
17g.745813C>GCA397504273GEMIN4c.2230G>C (p.Ala744Pro)
c.2197G>C (p.Ala733Pro)
c.2242G>C (p.Ala748Pro)
17g.745813C>TCA397504274GEMIN4c.2230G>A (p.Ala744Thr)
c.2197G>A (p.Ala733Thr)
c.2242G>A (p.Ala748Thr)
 gnomAD v4
17g.745814A=CA2242474426GEMIN4c.2229T= (p.Asn743=)
c.2196T= (p.Asn732=)
c.2241T= (p.Asn747=)
17g.745814A>CCA397504275GEMIN4c.2229T>G (p.Asn743Lys)
c.2196T>G (p.Asn732Lys)
c.2241T>G (p.Asn747Lys)
17g.745814A>GCA497384427GEMIN4c.2229T>C (p.Asn743=)
c.2196T>C (p.Asn732=)
c.2241T>C (p.Asn747=)
 dbSNP gnomAD v2 gnomAD v4
17g.745814A>TCA397504276GEMIN4c.2229T>A (p.Asn743Lys)
c.2196T>A (p.Asn732Lys)
c.2241T>A (p.Asn747Lys)
17g.745815T>ACA397504277GEMIN4c.2228A>T (p.Asn743Ile)
c.2195A>T (p.Asn732Ile)
c.2240A>T (p.Asn747Ile)
17g.745815T>CCA8262453GEMIN4c.2228A>G (p.Asn743Ser)
c.2195A>G (p.Asn732Ser)
c.2240A>G (p.Asn747Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745815T>GCA397504278GEMIN4c.2228A>C (p.Asn743Thr)
c.2195A>C (p.Asn732Thr)
c.2240A>C (p.Asn747Thr)
17g.745815T=CA2242474427GEMIN4c.2228A= (p.Asn743=)
c.2195A= (p.Asn732=)
c.2240A= (p.Asn747=)
17g.745816T>ACA397504279GEMIN4c.2227A>T (p.Asn743Tyr)
c.2194A>T (p.Asn732Tyr)
c.2239A>T (p.Asn747Tyr)
17g.745816T>CCA397504280GEMIN4c.2227A>G (p.Asn743Asp)
c.2194A>G (p.Asn732Asp)
c.2239A>G (p.Asn747Asp)
 gnomAD v4
17g.745816T>GCA397504281GEMIN4c.2227A>C (p.Asn743His)
c.2194A>C (p.Asn732His)
c.2239A>C (p.Asn747His)
17g.745817G>ACA497384432GEMIN4c.2226C>T (p.Ala742=)
c.2193C>T (p.Ala731=)
c.2238C>T (p.Ala746=)
 gnomAD v4
17g.745817G>CCA497384433GEMIN4c.2226C>G (p.Ala742=)
c.2193C>G (p.Ala731=)
c.2238C>G (p.Ala746=)
 dbSNP gnomAD v2 gnomAD v4
17g.745817G=CA2242474428GEMIN4c.2226C= (p.Ala742=)
c.2193C= (p.Ala731=)
c.2238C= (p.Ala746=)
17g.745817G>TCA497384430GEMIN4c.2226C>A (p.Ala742=)
c.2193C>A (p.Ala731=)
c.2238C>A (p.Ala746=)
 gnomAD v4
17g.745818G>ACA397504283GEMIN4c.2225C>T (p.Ala742Val)
c.2192C>T (p.Ala731Val)
c.2237C>T (p.Ala746Val)
17g.745818G>CCA397504284GEMIN4c.2225C>G (p.Ala742Gly)
c.2192C>G (p.Ala731Gly)
c.2237C>G (p.Ala746Gly)
17g.745818G>TCA397504282GEMIN4c.2225C>A (p.Ala742Asp)
c.2192C>A (p.Ala731Asp)
c.2237C>A (p.Ala746Asp)
17g.745819C>ACA397504286GEMIN4c.2224G>T (p.Ala742Ser)
c.2191G>T (p.Ala731Ser)
c.2236G>T (p.Ala746Ser)
17g.745819C=CA2242474429GEMIN4c.2224G= (p.Ala742=)
c.2191G= (p.Ala731=)
c.2236G= (p.Ala746=)
17g.745819C>GCA397504285GEMIN4c.2224G>C (p.Ala742Pro)
c.2191G>C (p.Ala731Pro)
c.2236G>C (p.Ala746Pro)
17g.745819C>TCA286713662GEMIN4c.2224G>A (p.Ala742Thr)
c.2191G>A (p.Ala731Thr)
c.2236G>A (p.Ala746Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.745820T>ACA497383590GEMIN4c.2223A>T (p.Ser741=)
c.2190A>T (p.Ser730=)
c.2235A>T (p.Ser745=)
17g.745820T>CCA497383589GEMIN4c.2223A>G (p.Ser741=)
c.2190A>G (p.Ser730=)
c.2235A>G (p.Ser745=)
 gnomAD v4
17g.745820T>GCA497383588GEMIN4c.2223A>C (p.Ser741=)
c.2190A>C (p.Ser730=)
c.2235A>C (p.Ser745=)
17g.745821G>ACA397505207GEMIN4c.2222C>T (p.Ser741Leu)
c.2189C>T (p.Ser730Leu)
c.2234C>T (p.Ser745Leu)
 gnomAD v4
17g.745821G>CCA397505212GEMIN4c.2222C>G (p.Ser741Ter)
c.2189C>G (p.Ser730Ter)
c.2234C>G (p.Ser745Ter)
17g.745821G>TCA397505210GEMIN4c.2222C>A (p.Ser741Ter)
c.2189C>A (p.Ser730Ter)
c.2234C>A (p.Ser745Ter)
17g.745822A>CCA397505214GEMIN4c.2221T>G (p.Ser741Ala)
c.2188T>G (p.Ser730Ala)
c.2233T>G (p.Ser745Ala)
17g.745822A>GCA397505218GEMIN4c.2221T>C (p.Ser741Pro)
c.2188T>C (p.Ser730Pro)
c.2233T>C (p.Ser745Pro)
17g.745822A>TCA397505216GEMIN4c.2221T>A (p.Ser741Thr)
c.2188T>A (p.Ser730Thr)
c.2233T>A (p.Ser745Thr)
17g.745823T>ACA497383594GEMIN4c.2220A>T (p.Val740=)
c.2187A>T (p.Val729=)
c.2232A>T (p.Val744=)
17g.745823T>CCA497383597GEMIN4c.2220A>G (p.Val740=)
c.2187A>G (p.Val729=)
c.2232A>G (p.Val744=)
 gnomAD v4
17g.745823T>GCA497383595GEMIN4c.2220A>C (p.Val740=)
c.2187A>C (p.Val729=)
c.2232A>C (p.Val744=)
17g.745824A>CCA397505220GEMIN4c.2219T>G (p.Val740Gly)
c.2186T>G (p.Val729Gly)
c.2231T>G (p.Val744Gly)
17g.745824A>GCA397505223GEMIN4c.2219T>C (p.Val740Ala)
c.2186T>C (p.Val729Ala)
c.2231T>C (p.Val744Ala)
17g.745824A>TCA397505222GEMIN4c.2219T>A (p.Val740Glu)
c.2186T>A (p.Val729Glu)
c.2231T>A (p.Val744Glu)
17g.745825C>ACA8262455GEMIN4c.2218G>T (p.Val740Leu)
c.2185G>T (p.Val729Leu)
c.2230G>T (p.Val744Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745825C=CA2242474430GEMIN4c.2218G= (p.Val740=)
c.2185G= (p.Val729=)
c.2230G= (p.Val744=)
17g.745825C>GCA397505228GEMIN4c.2218G>C (p.Val740Leu)
c.2185G>C (p.Val729Leu)
c.2230G>C (p.Val744Leu)
17g.745825C>TCA8262454GEMIN4c.2218G>A (p.Val740Ile)
c.2185G>A (p.Val729Ile)
c.2230G>A (p.Val744Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745826A>CCA397505230GEMIN4c.2217T>G (p.Ile739Met)
c.2184T>G (p.Ile728Met)
c.2229T>G (p.Ile743Met)
 gnomAD v4
17g.745826A>GCA497383600GEMIN4c.2217T>C (p.Ile739=)
c.2184T>C (p.Ile728=)
c.2229T>C (p.Ile743=)
17g.745826A>TCA497383601GEMIN4c.2217T>A (p.Ile739=)
c.2184T>A (p.Ile728=)
c.2229T>A (p.Ile743=)
17g.745827A=CA2242474431GEMIN4c.2216T= (p.Ile739=)
c.2183T= (p.Ile728=)
c.2228T= (p.Ile743=)
17g.745827A>CCA397505232GEMIN4c.2216T>G (p.Ile739Ser)
c.2183T>G (p.Ile728Ser)
c.2228T>G (p.Ile743Ser)
17g.745827A>GCA8262456GEMIN4c.2216T>C (p.Ile739Thr)
c.2183T>C (p.Ile728Thr)
c.2228T>C (p.Ile743Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745827A>TCA397505235GEMIN4c.2216T>A (p.Ile739Asn)
c.2183T>A (p.Ile728Asn)
c.2228T>A (p.Ile743Asn)
 gnomAD v4
17g.745827_745829delinsATCCA2242474432GEMIN4c.2214_2216delinsGAT (p.Glu738=)
c.2181_2183delinsGAT (p.Glu727=)
c.2226_2228delinsGAT (p.Glu742=)
17g.745828T>ACA397505236GEMIN4c.2215A>T (p.Ile739Phe)
c.2182A>T (p.Ile728Phe)
c.2227A>T (p.Ile743Phe)
17g.745828T>CCA397505238GEMIN4c.2215A>G (p.Ile739Val)
c.2182A>G (p.Ile728Val)
c.2227A>G (p.Ile743Val)
17g.745828T>GCA397505240GEMIN4c.2215A>C (p.Ile739Leu)
c.2182A>C (p.Ile728Leu)
c.2227A>C (p.Ile743Leu)
 gnomAD v4
17g.745830_745831delCA2242474433GEMIN4c.2214_2215del (p.Glu738AspfsTer7)
c.2181_2182del (p.Glu727AspfsTer7)
c.2226_2227del (p.Glu742AspfsTer7)
 dbSNP gnomAD v4
17g.745829C>ACA397505242GEMIN4c.2214G>T (p.Glu738Asp)
c.2181G>T (p.Glu727Asp)
c.2226G>T (p.Glu742Asp)
17g.745829C=CA2242474434GEMIN4c.2214G= (p.Glu738=)
c.2181G= (p.Glu727=)
c.2226G= (p.Glu742=)
17g.745829C>GCA397505244GEMIN4c.2214G>C (p.Glu738Asp)
c.2181G>C (p.Glu727Asp)
c.2226G>C (p.Glu742Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.745829C>TCA497383602GEMIN4c.2214G>A (p.Glu738=)
c.2181G>A (p.Glu727=)
c.2226G>A (p.Glu742=)
17g.745830T>ACA397505246GEMIN4c.2213A>T (p.Glu738Val)
c.2180A>T (p.Glu727Val)
c.2225A>T (p.Glu742Val)
17g.745830T>CCA8262457GEMIN4c.2213A>G (p.Glu738Gly)
c.2180A>G (p.Glu727Gly)
c.2225A>G (p.Glu742Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745830T>GCA397505249GEMIN4c.2213A>C (p.Glu738Ala)
c.2180A>C (p.Glu727Ala)
c.2225A>C (p.Glu742Ala)
17g.745830T=CA2242474435GEMIN4c.2213A= (p.Glu738=)
c.2180A= (p.Glu727=)
c.2225A= (p.Glu742=)
17g.745831C>ACA397505251GEMIN4c.2212G>T (p.Glu738Ter)
c.2179G>T (p.Glu727Ter)
c.2224G>T (p.Glu742Ter)
17g.745831C=CA2242474436GEMIN4c.2212G= (p.Glu738=)
c.2179G= (p.Glu727=)
c.2224G= (p.Glu742=)
17g.745831C>GCA397505255GEMIN4c.2212G>C (p.Glu738Gln)
c.2179G>C (p.Glu727Gln)
c.2224G>C (p.Glu742Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745831C>TCA397505253GEMIN4c.2212G>A (p.Glu738Lys)
c.2179G>A (p.Glu727Lys)
c.2224G>A (p.Glu742Lys)
 gnomAD v4
17g.745832A=CA2242474437GEMIN4c.2211T= (p.Cys737=)
c.2178T= (p.Cys726=)
c.2223T= (p.Cys741=)
17g.745832A>CCA8262458GEMIN4c.2211T>G (p.Cys737Trp)
c.2178T>G (p.Cys726Trp)
c.2223T>G (p.Cys741Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745832A>GCA497383603GEMIN4c.2211T>C (p.Cys737=)
c.2178T>C (p.Cys726=)
c.2223T>C (p.Cys741=)
 dbSNP gnomAD v2 gnomAD v4
17g.745832A>TCA397505258GEMIN4c.2211T>A (p.Cys737Ter)
c.2178T>A (p.Cys726Ter)
c.2223T>A (p.Cys741Ter)
17g.745833C>ACA397505261GEMIN4c.2210G>T (p.Cys737Phe)
c.2177G>T (p.Cys726Phe)
c.2222G>T (p.Cys741Phe)
17g.745833C=CA2242474438GEMIN4c.2210G= (p.Cys737=)
c.2177G= (p.Cys726=)
c.2222G= (p.Cys741=)
17g.745833C>GCA397505262GEMIN4c.2210G>C (p.Cys737Ser)
c.2177G>C (p.Cys726Ser)
c.2222G>C (p.Cys741Ser)
17g.745833C>TCA397505263GEMIN4c.2210G>A (p.Cys737Tyr)
c.2177G>A (p.Cys726Tyr)
c.2222G>A (p.Cys741Tyr)
 dbSNP
17g.745834A>CCA397505266GEMIN4c.2209T>G (p.Cys737Gly)
c.2176T>G (p.Cys726Gly)
c.2221T>G (p.Cys741Gly)
17g.745834A>GCA397505267GEMIN4c.2209T>C (p.Cys737Arg)
c.2176T>C (p.Cys726Arg)
c.2221T>C (p.Cys741Arg)
 gnomAD v4
17g.745834A>TCA397505268GEMIN4c.2209T>A (p.Cys737Ser)
c.2176T>A (p.Cys726Ser)
c.2221T>A (p.Cys741Ser)
17g.745835C>ACA497383604GEMIN4c.2208G>T (p.Leu736=)
c.2175G>T (p.Leu725=)
c.2220G>T (p.Leu740=)
17g.745835C>GCA497383605GEMIN4c.2208G>C (p.Leu736=)
c.2175G>C (p.Leu725=)
c.2220G>C (p.Leu740=)
17g.745835C>TCA497383606GEMIN4c.2208G>A (p.Leu736=)
c.2175G>A (p.Leu725=)
c.2220G>A (p.Leu740=)
17g.745836A>CCA397505273GEMIN4c.2207T>G (p.Leu736Arg)
c.2174T>G (p.Leu725Arg)
c.2219T>G (p.Leu740Arg)
17g.745836A>GCA397505272GEMIN4c.2207T>C (p.Leu736Pro)
c.2174T>C (p.Leu725Pro)
c.2219T>C (p.Leu740Pro)
17g.745836A>TCA397505271GEMIN4c.2207T>A (p.Leu736Gln)
c.2174T>A (p.Leu725Gln)
c.2219T>A (p.Leu740Gln)
17g.745837G>ACA8262459GEMIN4c.2206C>T (p.Leu736=)
c.2173C>T (p.Leu725=)
c.2218C>T (p.Leu740=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745837G>CCA397505274GEMIN4c.2206C>G (p.Leu736Val)
c.2173C>G (p.Leu725Val)
c.2218C>G (p.Leu740Val)
 dbSNP
17g.745837G=CA2242474439GEMIN4c.2206C= (p.Leu736=)
c.2173C= (p.Leu725=)
c.2218C= (p.Leu740=)
17g.745837G>TCA397505275GEMIN4c.2206C>A (p.Leu736Met)
c.2173C>A (p.Leu725Met)
c.2218C>A (p.Leu740Met)
17g.745838G>ACA497383610GEMIN4c.2205C>T (p.Leu735=)
c.2172C>T (p.Leu724=)
c.2217C>T (p.Leu739=)
17g.745838G>CCA497383611GEMIN4c.2205C>G (p.Leu735=)
c.2172C>G (p.Leu724=)
c.2217C>G (p.Leu739=)
17g.745838G>TCA497383612GEMIN4c.2205C>A (p.Leu735=)
c.2172C>A (p.Leu724=)
c.2217C>A (p.Leu739=)
17g.745839A>CCA397505276GEMIN4c.2204T>G (p.Leu735Arg)
c.2171T>G (p.Leu724Arg)
c.2216T>G (p.Leu739Arg)
17g.745839A>GCA397505278GEMIN4c.2204T>C (p.Leu735Pro)
c.2171T>C (p.Leu724Pro)
c.2216T>C (p.Leu739Pro)
17g.745839A>TCA397505279GEMIN4c.2204T>A (p.Leu735His)
c.2171T>A (p.Leu724His)
c.2216T>A (p.Leu739His)
17g.745840G>ACA397505281GEMIN4c.2203C>T (p.Leu735Phe)
c.2170C>T (p.Leu724Phe)
c.2215C>T (p.Leu739Phe)
17g.745840G>CCA397505283GEMIN4c.2203C>G (p.Leu735Val)
c.2170C>G (p.Leu724Val)
c.2215C>G (p.Leu739Val)
 dbSNP gnomAD v2 gnomAD v4
17g.745840G=CA2242474440GEMIN4c.2203C= (p.Leu735=)
c.2170C= (p.Leu724=)
c.2215C= (p.Leu739=)
17g.745840G>TCA397505285GEMIN4c.2203C>A (p.Leu735Ile)
c.2170C>A (p.Leu724Ile)
c.2215C>A (p.Leu739Ile)
17g.745841C>ACA397505287GEMIN4c.2202G>T (p.Glu734Asp)
c.2169G>T (p.Glu723Asp)
c.2214G>T (p.Glu738Asp)
 gnomAD v3 gnomAD v4
17g.745841C>GCA397505288GEMIN4c.2202G>C (p.Glu734Asp)
c.2169G>C (p.Glu723Asp)
c.2214G>C (p.Glu738Asp)
 gnomAD v4
17g.745841C>TCA497383614GEMIN4c.2202G>A (p.Glu734=)
c.2169G>A (p.Glu723=)
c.2214G>A (p.Glu738=)
17g.745842T>ACA397505294GEMIN4c.2201A>T (p.Glu734Val)
c.2168A>T (p.Glu723Val)
c.2213A>T (p.Glu738Val)
17g.745842T>CCA397505291GEMIN4c.2201A>G (p.Glu734Gly)
c.2168A>G (p.Glu723Gly)
c.2213A>G (p.Glu738Gly)
17g.745842T>GCA397505292GEMIN4c.2201A>C (p.Glu734Ala)
c.2168A>C (p.Glu723Ala)
c.2213A>C (p.Glu738Ala)
17g.745843C>ACA397505296GEMIN4c.2200G>T (p.Glu734Ter)
c.2167G>T (p.Glu723Ter)
c.2212G>T (p.Glu738Ter)
17g.745843C=CA2242474441GEMIN4c.2200G= (p.Glu734=)
c.2167G= (p.Glu723=)
c.2212G= (p.Glu738=)
17g.745843C>GCA8262460GEMIN4c.2200G>C (p.Glu734Gln)
c.2167G>C (p.Glu723Gln)
c.2212G>C (p.Glu738Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745843C>TCA397505297GEMIN4c.2200G>A (p.Glu734Lys)
c.2167G>A (p.Glu723Lys)
c.2212G>A (p.Glu738Lys)
17g.745843_745845delCA645586970GEMIN4c.2198_2200del (p.Leu733_Glu734delinsGln)
c.2165_2167del (p.Leu722_Glu723delinsGln)
c.2210_2212del (p.Leu737_Glu738delinsGln)
 COSMIC COSMIC
17g.745844C>ACA497383618GEMIN4c.2199G>T (p.Leu733=)
c.2166G>T (p.Leu722=)
c.2211G>T (p.Leu737=)
17g.745844C>GCA497383619GEMIN4c.2199G>C (p.Leu733=)
c.2166G>C (p.Leu722=)
c.2211G>C (p.Leu737=)
17g.745844C>TCA497383620GEMIN4c.2199G>A (p.Leu733=)
c.2166G>A (p.Leu722=)
c.2211G>A (p.Leu737=)
17g.745845A=CA2242474442GEMIN4c.2198T= (p.Leu733=)
c.2165T= (p.Leu722=)
c.2210T= (p.Leu737=)
17g.745845A>CCA397505300GEMIN4c.2198T>G (p.Leu733Arg)
c.2165T>G (p.Leu722Arg)
c.2210T>G (p.Leu737Arg)
17g.745845A>GCA397505302GEMIN4c.2198T>C (p.Leu733Pro)
c.2165T>C (p.Leu722Pro)
c.2210T>C (p.Leu737Pro)
 dbSNP gnomAD v4
17g.745845A>TCA397505305GEMIN4c.2198T>A (p.Leu733Gln)
c.2165T>A (p.Leu722Gln)
c.2210T>A (p.Leu737Gln)
17g.745846G>ACA8262461GEMIN4c.2197C>T (p.Leu733=)
c.2164C>T (p.Leu722=)
c.2209C>T (p.Leu737=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745846G>CCA397505309GEMIN4c.2197C>G (p.Leu733Val)
c.2164C>G (p.Leu722Val)
c.2209C>G (p.Leu737Val)
17g.745846G=CA2242474443GEMIN4c.2197C= (p.Leu733=)
c.2164C= (p.Leu722=)
c.2209C= (p.Leu737=)
17g.745846G>TCA397505310GEMIN4c.2197C>A (p.Leu733Met)
c.2164C>A (p.Leu722Met)
c.2209C>A (p.Leu737Met)
17g.745847G>ACA8262462GEMIN4c.2196C>T (p.Ile732=)
c.2163C>T (p.Ile721=)
c.2208C>T (p.Ile736=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745847G>CCA397505313GEMIN4c.2196C>G (p.Ile732Met)
c.2163C>G (p.Ile721Met)
c.2208C>G (p.Ile736Met)
17g.745847G=CA2242474444GEMIN4c.2196C= (p.Ile732=)
c.2163C= (p.Ile721=)
c.2208C= (p.Ile736=)
17g.745847G>TCA497383623GEMIN4c.2196C>A (p.Ile732=)
c.2163C>A (p.Ile721=)
c.2208C>A (p.Ile736=)
17g.745848A=CA2242474445GEMIN4c.2195T= (p.Ile732=)
c.2162T= (p.Ile721=)
c.2207T= (p.Ile736=)
17g.745848A>CCA397505317GEMIN4c.2195T>G (p.Ile732Ser)
c.2162T>G (p.Ile721Ser)
c.2207T>G (p.Ile736Ser)
17g.745848A>GCA8262463GEMIN4c.2195T>C (p.Ile732Thr)
c.2162T>C (p.Ile721Thr)
c.2207T>C (p.Ile736Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745848A>TCA397505316GEMIN4c.2195T>A (p.Ile732Asn)
c.2162T>A (p.Ile721Asn)
c.2207T>A (p.Ile736Asn)
17g.745849T>ACA397505323GEMIN4c.2194A>T (p.Ile732Phe)
c.2161A>T (p.Ile721Phe)
c.2206A>T (p.Ile736Phe)
17g.745849T>CCA397505321GEMIN4c.2194A>G (p.Ile732Val)
c.2161A>G (p.Ile721Val)
c.2206A>G (p.Ile736Val)
 ClinVar
17g.745849T>GCA397505322GEMIN4c.2194A>C (p.Ile732Leu)
c.2161A>C (p.Ile721Leu)
c.2206A>C (p.Ile736Leu)
17g.745850A=CA2242474446GEMIN4c.2193T= (p.His731=)
c.2160T= (p.His720=)
c.2205T= (p.His735=)
17g.745850A>CCA397505324GEMIN4c.2193T>G (p.His731Gln)
c.2160T>G (p.His720Gln)
c.2205T>G (p.His735Gln)
17g.745850A>GCA286713663GEMIN4c.2193T>C (p.His731=)
c.2160T>C (p.His720=)
c.2205T>C (p.His735=)
 dbSNP gnomAD v3 gnomAD v4
17g.745850A>TCA397505325GEMIN4c.2193T>A (p.His731Gln)
c.2160T>A (p.His720Gln)
c.2205T>A (p.His735Gln)
17g.745851T>ACA397505326GEMIN4c.2192A>T (p.His731Leu)
c.2159A>T (p.His720Leu)
c.2204A>T (p.His735Leu)
17g.745851T>CCA397505327GEMIN4c.2192A>G (p.His731Arg)
c.2159A>G (p.His720Arg)
c.2204A>G (p.His735Arg)
 dbSNP
17g.745851T>GCA397505328GEMIN4c.2192A>C (p.His731Pro)
c.2159A>C (p.His720Pro)
c.2204A>C (p.His735Pro)
17g.745852G>ACA286713664GEMIN4c.2191C>T (p.His731Tyr)
c.2158C>T (p.His720Tyr)
c.2203C>T (p.His735Tyr)
 dbSNP
17g.745852G>CCA397505331GEMIN4c.2191C>G (p.His731Asp)
c.2158C>G (p.His720Asp)
c.2203C>G (p.His735Asp)
17g.745852G=CA2242474447GEMIN4c.2191C= (p.His731=)
c.2158C= (p.His720=)
c.2203C= (p.His735=)
17g.745852G>TCA397505333GEMIN4c.2191C>A (p.His731Asn)
c.2158C>A (p.His720Asn)
c.2203C>A (p.His735Asn)
17g.745853G>ACA497383627GEMIN4c.2190C>T (p.Ile730=)
c.2157C>T (p.Ile719=)
c.2202C>T (p.Ile734=)
17g.745853G>CCA397505334GEMIN4c.2190C>G (p.Ile730Met)
c.2157C>G (p.Ile719Met)
c.2202C>G (p.Ile734Met)
17g.745853G>TCA497383628GEMIN4c.2190C>A (p.Ile730=)
c.2157C>A (p.Ile719=)
c.2202C>A (p.Ile734=)
17g.745854A>CCA397505340GEMIN4c.2189T>G (p.Ile730Ser)
c.2156T>G (p.Ile719Ser)
c.2201T>G (p.Ile734Ser)
17g.745854A>GCA397505338GEMIN4c.2189T>C (p.Ile730Thr)
c.2156T>C (p.Ile719Thr)
c.2201T>C (p.Ile734Thr)
17g.745854A>TCA397505336GEMIN4c.2189T>A (p.Ile730Asn)
c.2156T>A (p.Ile719Asn)
c.2201T>A (p.Ile734Asn)
17g.745855T>ACA397505342GEMIN4c.2188A>T (p.Ile730Phe)
c.2155A>T (p.Ile719Phe)
c.2200A>T (p.Ile734Phe)
17g.745855T>CCA397505344GEMIN4c.2188A>G (p.Ile730Val)
c.2155A>G (p.Ile719Val)
c.2200A>G (p.Ile734Val)
17g.745855T>GCA397505346GEMIN4c.2188A>C (p.Ile730Leu)
c.2155A>C (p.Ile719Leu)
c.2200A>C (p.Ile734Leu)
17g.745856C>ACA497383629GEMIN4c.2187G>T (p.Ala729=)
c.2154G>T (p.Ala718=)
c.2199G>T (p.Ala733=)
17g.745856C=CA2242474448GEMIN4c.2187G= (p.Ala729=)
c.2154G= (p.Ala718=)
c.2199G= (p.Ala733=)
17g.745856C>GCA497383630GEMIN4c.2187G>C (p.Ala729=)
c.2154G>C (p.Ala718=)
c.2199G>C (p.Ala733=)
17g.745856C>TCA8262464GEMIN4c.2187G>A (p.Ala729=)
c.2154G>A (p.Ala718=)
c.2199G>A (p.Ala733=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.745857G>ACA397505349GEMIN4c.2186C>T (p.Ala729Val)
c.2153C>T (p.Ala718Val)
c.2198C>T (p.Ala733Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745857G>CCA397505351GEMIN4c.2186C>G (p.Ala729Gly)
c.2153C>G (p.Ala718Gly)
c.2198C>G (p.Ala733Gly)
17g.745857G=CA2242474449GEMIN4c.2186C= (p.Ala729=)
c.2153C= (p.Ala718=)
c.2198C= (p.Ala733=)
17g.745857G>TCA397505352GEMIN4c.2186C>A (p.Ala729Glu)
c.2153C>A (p.Ala718Glu)
c.2198C>A (p.Ala733Glu)
17g.745858C>ACA397505354GEMIN4c.2185G>T (p.Ala729Ser)
c.2152G>T (p.Ala718Ser)
c.2197G>T (p.Ala733Ser)
 dbSNP gnomAD v4
17g.745858C=CA2242474450GEMIN4c.2185G= (p.Ala729=)
c.2152G= (p.Ala718=)
c.2197G= (p.Ala733=)
17g.745858C>GCA397505355GEMIN4c.2185G>C (p.Ala729Pro)
c.2152G>C (p.Ala718Pro)
c.2197G>C (p.Ala733Pro)
17g.745858C>TCA397505356GEMIN4c.2185G>A (p.Ala729Thr)
c.2152G>A (p.Ala718Thr)
c.2197G>A (p.Ala733Thr)
 gnomAD v4
17g.745859T>ACA497383632GEMIN4c.2184A>T (p.Leu728=)
c.2151A>T (p.Leu717=)
c.2196A>T (p.Leu732=)
17g.745859T>CCA497383633GEMIN4c.2184A>G (p.Leu728=)
c.2151A>G (p.Leu717=)
c.2196A>G (p.Leu732=)
17g.745859T>GCA497383634GEMIN4c.2184A>C (p.Leu728=)
c.2151A>C (p.Leu717=)
c.2196A>C (p.Leu732=)
17g.745860A>CCA397505358GEMIN4c.2183T>G (p.Leu728Arg)
c.2150T>G (p.Leu717Arg)
c.2195T>G (p.Leu732Arg)
17g.745860A>GCA397505359GEMIN4c.2183T>C (p.Leu728Pro)
c.2150T>C (p.Leu717Pro)
c.2195T>C (p.Leu732Pro)
17g.745860A>TCA397505361GEMIN4c.2183T>A (p.Leu728Gln)
c.2150T>A (p.Leu717Gln)
c.2195T>A (p.Leu732Gln)
17g.745861G>ACA497383637GEMIN4c.2182C>T (p.Leu728=)
c.2149C>T (p.Leu717=)
c.2194C>T (p.Leu732=)
 gnomAD v4
17g.745861G>CCA397505363GEMIN4c.2182C>G (p.Leu728Val)
c.2149C>G (p.Leu717Val)
c.2194C>G (p.Leu732Val)
 dbSNP
17g.745861G=CA2242474451GEMIN4c.2182C= (p.Leu728=)
c.2149C= (p.Leu717=)
c.2194C= (p.Leu732=)
17g.745861G>TCA397505365GEMIN4c.2182C>A (p.Leu728Ile)
c.2149C>A (p.Leu717Ile)
c.2194C>A (p.Leu732Ile)
17g.745862A>CCA397505367GEMIN4c.2181T>G (p.Asp727Glu)
c.2148T>G (p.Asp716Glu)
c.2193T>G (p.Asp731Glu)
17g.745862A>GCA497383638GEMIN4c.2181T>C (p.Asp727=)
c.2148T>C (p.Asp716=)
c.2193T>C (p.Asp731=)
17g.745862A>TCA397505369GEMIN4c.2181T>A (p.Asp727Glu)
c.2148T>A (p.Asp716Glu)
c.2193T>A (p.Asp731Glu)
17g.745863T>ACA8262465GEMIN4c.2180A>T (p.Asp727Val)
c.2147A>T (p.Asp716Val)
c.2192A>T (p.Asp731Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745863T>CCA397505372GEMIN4c.2180A>G (p.Asp727Gly)
c.2147A>G (p.Asp716Gly)
c.2192A>G (p.Asp731Gly)
17g.745863T>GCA397505374GEMIN4c.2180A>C (p.Asp727Ala)
c.2147A>C (p.Asp716Ala)
c.2192A>C (p.Asp731Ala)
17g.745863T=CA2242474452GEMIN4c.2180A= (p.Asp727=)
c.2147A= (p.Asp716=)
c.2192A= (p.Asp731=)
17g.745864C>ACA397505375GEMIN4c.2179G>T (p.Asp727Tyr)
c.2146G>T (p.Asp716Tyr)
c.2191G>T (p.Asp731Tyr)
 gnomAD v4
17g.745864C>GCA397505376GEMIN4c.2179G>C (p.Asp727His)
c.2146G>C (p.Asp716His)
c.2191G>C (p.Asp731His)
17g.745864C>TCA397505377GEMIN4c.2179G>A (p.Asp727Asn)
c.2146G>A (p.Asp716Asn)
c.2191G>A (p.Asp731Asn)
17g.745865delCA645586971GEMIN4c.2179del (p.Asp727IlefsTer2)
c.2146del (p.Asp716IlefsTer2)
c.2191del (p.Asp731IlefsTer2)
 COSMIC COSMIC
17g.745865C>ACA397505379GEMIN4c.2178G>T (p.Lys726Asn)
c.2145G>T (p.Lys715Asn)
c.2190G>T (p.Lys730Asn)
17g.745865C=CA2242474453GEMIN4c.2178G= (p.Lys726=)
c.2145G= (p.Lys715=)
c.2190G= (p.Lys730=)
17g.745865C>GCA397505383GEMIN4c.2178G>C (p.Lys726Asn)
c.2145G>C (p.Lys715Asn)
c.2190G>C (p.Lys730Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.745865C>TCA497383640GEMIN4c.2178G>A (p.Lys726=)
c.2145G>A (p.Lys715=)
c.2190G>A (p.Lys730=)
 dbSNP gnomAD v4
17g.745866T>ACA397505385GEMIN4c.2177A>T (p.Lys726Met)
c.2144A>T (p.Lys715Met)
c.2189A>T (p.Lys730Met)
17g.745866T>CCA397505387GEMIN4c.2177A>G (p.Lys726Arg)
c.2144A>G (p.Lys715Arg)
c.2189A>G (p.Lys730Arg)
17g.745866T>GCA397505389GEMIN4c.2177A>C (p.Lys726Thr)
c.2144A>C (p.Lys715Thr)
c.2189A>C (p.Lys730Thr)
17g.745867T>ACA397505395GEMIN4c.2176A>T (p.Lys726Ter)
c.2143A>T (p.Lys715Ter)
c.2188A>T (p.Lys730Ter)
17g.745867T>CCA397505391GEMIN4c.2176A>G (p.Lys726Glu)
c.2143A>G (p.Lys715Glu)
c.2188A>G (p.Lys730Glu)
17g.745867T>GCA397505393GEMIN4c.2176A>C (p.Lys726Gln)
c.2143A>C (p.Lys715Gln)
c.2188A>C (p.Lys730Gln)
17g.745868C>ACA397505397GEMIN4c.2175G>T (p.Arg725Ser)
c.2142G>T (p.Arg714Ser)
c.2187G>T (p.Arg729Ser)
17g.745868C=CA2242474454GEMIN4c.2175G= (p.Arg725=)
c.2142G= (p.Arg714=)
c.2187G= (p.Arg729=)
17g.745868C>GCA397505398GEMIN4c.2175G>C (p.Arg725Ser)
c.2142G>C (p.Arg714Ser)
c.2187G>C (p.Arg729Ser)
 dbSNP
17g.745868C>TCA497383642GEMIN4c.2175G>A (p.Arg725=)
c.2142G>A (p.Arg714=)
c.2187G>A (p.Arg729=)
17g.745869C>ACA397505401GEMIN4c.2174G>T (p.Arg725Met)
c.2141G>T (p.Arg714Met)
c.2186G>T (p.Arg729Met)
17g.745869C>GCA397505402GEMIN4c.2174G>C (p.Arg725Thr)
c.2141G>C (p.Arg714Thr)
c.2186G>C (p.Arg729Thr)
17g.745869C>TCA397505403GEMIN4c.2174G>A (p.Arg725Lys)
c.2141G>A (p.Arg714Lys)
c.2186G>A (p.Arg729Lys)
17g.745870T>ACA397505404GEMIN4c.2173A>T (p.Arg725Trp)
c.2140A>T (p.Arg714Trp)
c.2185A>T (p.Arg729Trp)
17g.745870T>CCA397505406GEMIN4c.2173A>G (p.Arg725Gly)
c.2140A>G (p.Arg714Gly)
c.2185A>G (p.Arg729Gly)
17g.745870T>GCA497383643GEMIN4c.2173A>C (p.Arg725=)
c.2140A>C (p.Arg714=)
c.2185A>C (p.Arg729=)
17g.745871A>CCA397505409GEMIN4c.2172T>G (p.Asp724Glu)
c.2139T>G (p.Asp713Glu)
c.2184T>G (p.Asp728Glu)
17g.745871A>GCA497383644GEMIN4c.2172T>C (p.Asp724=)
c.2139T>C (p.Asp713=)
c.2184T>C (p.Asp728=)
17g.745871A>TCA397505410GEMIN4c.2172T>A (p.Asp724Glu)
c.2139T>A (p.Asp713Glu)
c.2184T>A (p.Asp728Glu)
17g.745872T>ACA397505411GEMIN4c.2171A>T (p.Asp724Val)
c.2138A>T (p.Asp713Val)
c.2183A>T (p.Asp728Val)
17g.745872T>CCA397505416GEMIN4c.2171A>G (p.Asp724Gly)
c.2138A>G (p.Asp713Gly)
c.2183A>G (p.Asp728Gly)
 dbSNP gnomAD v4
17g.745872T>GCA397505417GEMIN4c.2171A>C (p.Asp724Ala)
c.2138A>C (p.Asp713Ala)
c.2183A>C (p.Asp728Ala)
17g.745872T=CA2242474455GEMIN4c.2171A= (p.Asp724=)
c.2138A= (p.Asp713=)
c.2183A= (p.Asp728=)
17g.745873C>ACA397505421GEMIN4c.2170G>T (p.Asp724Tyr)
c.2137G>T (p.Asp713Tyr)
c.2182G>T (p.Asp728Tyr)
17g.745873C>GCA397505422GEMIN4c.2170G>C (p.Asp724His)
c.2137G>C (p.Asp713His)
c.2182G>C (p.Asp728His)
17g.745873C>TCA397505419GEMIN4c.2170G>A (p.Asp724Asn)
c.2137G>A (p.Asp713Asn)
c.2182G>A (p.Asp728Asn)
17g.745874C>ACA397505424GEMIN4c.2169G>T (p.Leu723Phe)
c.2136G>T (p.Leu712Phe)
c.2181G>T (p.Leu727Phe)
17g.745874C>GCA397505423GEMIN4c.2169G>C (p.Leu723Phe)
c.2136G>C (p.Leu712Phe)
c.2181G>C (p.Leu727Phe)
17g.745874C>TCA497383645GEMIN4c.2169G>A (p.Leu723=)
c.2136G>A (p.Leu712=)
c.2181G>A (p.Leu727=)
17g.745875A>CCA397505430GEMIN4c.2168T>G (p.Leu723Trp)
c.2135T>G (p.Leu712Trp)
c.2180T>G (p.Leu727Trp)
17g.745875A>GCA397505426GEMIN4c.2168T>C (p.Leu723Ser)
c.2135T>C (p.Leu712Ser)
c.2180T>C (p.Leu727Ser)
17g.745875A>TCA397505428GEMIN4c.2168T>A (p.Leu723Ter)
c.2135T>A (p.Leu712Ter)
c.2180T>A (p.Leu727Ter)
17g.745876A>CCA397505432GEMIN4c.2167T>G (p.Leu723Val)
c.2134T>G (p.Leu712Val)
c.2179T>G (p.Leu727Val)
17g.745876A>GCA497383647GEMIN4c.2167T>C (p.Leu723=)
c.2134T>C (p.Leu712=)
c.2179T>C (p.Leu727=)
17g.745876A>TCA397505434GEMIN4c.2167T>A (p.Leu723Met)
c.2134T>A (p.Leu712Met)
c.2179T>A (p.Leu727Met)
17g.745877A>CCA497383648GEMIN4c.2166T>G (p.Ser722=)
c.2133T>G (p.Ser711=)
c.2178T>G (p.Ser726=)
17g.745877A>GCA497383649GEMIN4c.2166T>C (p.Ser722=)
c.2133T>C (p.Ser711=)
c.2178T>C (p.Ser726=)
17g.745877A>TCA497383651GEMIN4c.2166T>A (p.Ser722=)
c.2133T>A (p.Ser711=)
c.2178T>A (p.Ser726=)
17g.745881_745882delCA2520583288GEMIN4c.2165_2166del (p.Ser722PhefsTer3)
c.2132_2133del (p.Ser711PhefsTer3)
c.2177_2178del (p.Ser726PhefsTer3)
 gnomAD v4
17g.745878G>ACA397505436GEMIN4c.2165C>T (p.Ser722Phe)
c.2132C>T (p.Ser711Phe)
c.2177C>T (p.Ser726Phe)
 gnomAD v4
17g.745878G>CCA397505438GEMIN4c.2165C>G (p.Ser722Cys)
c.2132C>G (p.Ser711Cys)
c.2177C>G (p.Ser726Cys)
17g.745878G=CA2242474456GEMIN4c.2165C= (p.Ser722=)
c.2132C= (p.Ser711=)
c.2177C= (p.Ser726=)
17g.745878G>TCA8262466GEMIN4c.2165C>A (p.Ser722Tyr)
c.2132C>A (p.Ser711Tyr)
c.2177C>A (p.Ser726Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745879A=CA2242474457GEMIN4c.2164T= (p.Ser722=)
c.2131T= (p.Ser711=)
c.2176T= (p.Ser726=)
17g.745879A>CCA397505441GEMIN4c.2164T>G (p.Ser722Ala)
c.2131T>G (p.Ser711Ala)
c.2176T>G (p.Ser726Ala)
17g.745879A>GCA8262467GEMIN4c.2164T>C (p.Ser722Pro)
c.2131T>C (p.Ser711Pro)
c.2176T>C (p.Ser726Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745879A>TCA397505446GEMIN4c.2164T>A (p.Ser722Thr)
c.2131T>A (p.Ser711Thr)
c.2176T>A (p.Ser726Thr)
17g.745880G>ACA8262469GEMIN4c.2163C>T (p.Leu721=)
c.2130C>T (p.Leu710=)
c.2175C>T (p.Leu725=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745880G>CCA8262468GEMIN4c.2163C>G (p.Leu721=)
c.2130C>G (p.Leu710=)
c.2175C>G (p.Leu725=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745880G=CA2242474458GEMIN4c.2163C= (p.Leu721=)
c.2130C= (p.Leu710=)
c.2175C= (p.Leu725=)
17g.745880G>TCA497383652GEMIN4c.2163C>A (p.Leu721=)
c.2130C>A (p.Leu710=)
c.2175C>A (p.Leu725=)
 gnomAD v4
17g.745881A>CCA397505453GEMIN4c.2162T>G (p.Leu721Arg)
c.2129T>G (p.Leu710Arg)
c.2174T>G (p.Leu725Arg)
17g.745881A>GCA397505450GEMIN4c.2162T>C (p.Leu721Pro)
c.2129T>C (p.Leu710Pro)
c.2174T>C (p.Leu725Pro)
 gnomAD v4
17g.745881A>TCA397505452GEMIN4c.2162T>A (p.Leu721His)
c.2129T>A (p.Leu710His)
c.2174T>A (p.Leu725His)
17g.745881_745882delinsAGCA2242474459GEMIN4c.2161_2162delinsCT (p.Leu721=)
c.2128_2129delinsCT (p.Leu710=)
c.2173_2174delinsCT (p.Leu725=)
17g.745882G>ACA397505455GEMIN4c.2161C>T (p.Leu721Phe)
c.2128C>T (p.Leu710Phe)
c.2173C>T (p.Leu725Phe)
17g.745882G>CCA397505456GEMIN4c.2161C>G (p.Leu721Val)
c.2128C>G (p.Leu710Val)
c.2173C>G (p.Leu725Val)
17g.745882G>TCA397505458GEMIN4c.2161C>A (p.Leu721Ile)
c.2128C>A (p.Leu710Ile)
c.2173C>A (p.Leu725Ile)
17g.745883delCA774955055GEMIN4c.2161del (p.Leu721SerfsTer8)
c.2128del (p.Leu710SerfsTer8)
c.2173del (p.Leu725SerfsTer8)
 dbSNP
17g.745883G>ACA286713665GEMIN4c.2160C>T (p.Cys720=)
c.2127C>T (p.Cys709=)
c.2172C>T (p.Cys724=)
 dbSNP gnomAD v3 gnomAD v4
17g.745883G>CCA397505460GEMIN4c.2160C>G (p.Cys720Trp)
c.2127C>G (p.Cys709Trp)
c.2172C>G (p.Cys724Trp)
17g.745883G=CA2242474460GEMIN4c.2160C= (p.Cys720=)
c.2127C= (p.Cys709=)
c.2172C= (p.Cys724=)
17g.745883G>TCA397505462GEMIN4c.2160C>A (p.Cys720Ter)
c.2127C>A (p.Cys709Ter)
c.2172C>A (p.Cys724Ter)
 dbSNP
17g.745884C>ACA397505464GEMIN4c.2159G>T (p.Cys720Phe)
c.2126G>T (p.Cys709Phe)
c.2171G>T (p.Cys724Phe)
17g.745884C>GCA397505465GEMIN4c.2159G>C (p.Cys720Ser)
c.2126G>C (p.Cys709Ser)
c.2171G>C (p.Cys724Ser)
17g.745884C>TCA397505466GEMIN4c.2159G>A (p.Cys720Tyr)
c.2126G>A (p.Cys709Tyr)
c.2171G>A (p.Cys724Tyr)
 gnomAD v4
17g.745885A>CCA397505467GEMIN4c.2158T>G (p.Cys720Gly)
c.2125T>G (p.Cys709Gly)
c.2170T>G (p.Cys724Gly)
17g.745885A>GCA397505469GEMIN4c.2158T>C (p.Cys720Arg)
c.2125T>C (p.Cys709Arg)
c.2170T>C (p.Cys724Arg)
 COSMIC COSMIC
17g.745885A>TCA397505470GEMIN4c.2158T>A (p.Cys720Ser)
c.2125T>A (p.Cys709Ser)
c.2170T>A (p.Cys724Ser)
17g.745886C>ACA497383658GEMIN4c.2157G>T (p.Arg719=)
c.2124G>T (p.Arg708=)
c.2169G>T (p.Arg723=)
17g.745886C>GCA497383659GEMIN4c.2157G>C (p.Arg719=)
c.2124G>C (p.Arg708=)
c.2169G>C (p.Arg723=)
17g.745886C>TCA497383657GEMIN4c.2157G>A (p.Arg719=)
c.2124G>A (p.Arg708=)
c.2169G>A (p.Arg723=)
17g.745886_745887insTGTGCTAGGTGGTACACAGGTAAGATCA2635153268GEMIN4c.2156_2157insATCTTACCTGTGTACCACCTAGCACA (p.Cys720SerfsTer7)
c.2123_2124insATCTTACCTGTGTACCACCTAGCACA (p.Cys709SerfsTer7)
c.2168_2169insATCTTACCTGTGTACCACCTAGCACA (p.Cys724SerfsTer7)
 gnomAD v4
17g.745887C>ACA397505477GEMIN4c.2156G>T (p.Arg719Leu)
c.2123G>T (p.Arg708Leu)
c.2168G>T (p.Arg723Leu)
17g.745887C=CA2242474461GEMIN4c.2156G= (p.Arg719=)
c.2123G= (p.Arg708=)
c.2168G= (p.Arg723=)
17g.745887C>GCA397505475GEMIN4c.2156G>C (p.Arg719Pro)
c.2123G>C (p.Arg708Pro)
c.2168G>C (p.Arg723Pro)
17g.745887C>TCA8262470GEMIN4c.2156G>A (p.Arg719Gln)
c.2123G>A (p.Arg708Gln)
c.2168G>A (p.Arg723Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745888G>ACA8262471GEMIN4c.2155C>T (p.Arg719Trp)
c.2122C>T (p.Arg708Trp)
c.2167C>T (p.Arg723Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745888G>CCA397505479GEMIN4c.2155C>G (p.Arg719Gly)
c.2122C>G (p.Arg708Gly)
c.2167C>G (p.Arg723Gly)
17g.745888G=CA2242474462GEMIN4c.2155C= (p.Arg719=)
c.2122C= (p.Arg708=)
c.2167C= (p.Arg723=)
17g.745888G>TCA497383661GEMIN4c.2155C>A (p.Arg719=)
c.2122C>A (p.Arg708=)
c.2167C>A (p.Arg723=)
 gnomAD v4
17g.745889C>ACA397505480GEMIN4c.2154G>T (p.Lys718Asn)
c.2121G>T (p.Lys707Asn)
c.2166G>T (p.Lys722Asn)
 dbSNP
17g.745889C=CA2242474463GEMIN4c.2154G= (p.Lys718=)
c.2121G= (p.Lys707=)
c.2166G= (p.Lys722=)
17g.745889C>GCA397505481GEMIN4c.2154G>C (p.Lys718Asn)
c.2121G>C (p.Lys707Asn)
c.2166G>C (p.Lys722Asn)
17g.745889C>TCA497383662GEMIN4c.2154G>A (p.Lys718=)
c.2121G>A (p.Lys707=)
c.2166G>A (p.Lys722=)
 dbSNP
17g.745890T>ACA397505484GEMIN4c.2153A>T (p.Lys718Met)
c.2120A>T (p.Lys707Met)
c.2165A>T (p.Lys722Met)
17g.745890T>CCA397505485GEMIN4c.2153A>G (p.Lys718Arg)
c.2120A>G (p.Lys707Arg)
c.2165A>G (p.Lys722Arg)
17g.745890T>GCA397505486GEMIN4c.2153A>C (p.Lys718Thr)
c.2120A>C (p.Lys707Thr)
c.2165A>C (p.Lys722Thr)
 dbSNP gnomAD v3 gnomAD v4
17g.745890T=CA2242474464GEMIN4c.2153A= (p.Lys718=)
c.2120A= (p.Lys707=)
c.2165A= (p.Lys722=)
17g.745891T>ACA397505489GEMIN4c.2152A>T (p.Lys718Ter)
c.2119A>T (p.Lys707Ter)
c.2164A>T (p.Lys722Ter)
17g.745891T>CCA397505491GEMIN4c.2152A>G (p.Lys718Glu)
c.2119A>G (p.Lys707Glu)
c.2164A>G (p.Lys722Glu)
17g.745891T>GCA397505493GEMIN4c.2152A>C (p.Lys718Gln)
c.2119A>C (p.Lys707Gln)
c.2164A>C (p.Lys722Gln)
 gnomAD v4
17g.745891_745892insACA2808150948GEMIN4c.2151_2152insT (p.Lys718Ter)
c.2118_2119insT (p.Lys707Ter)
c.2163_2164insT (p.Lys722Ter)
17g.745892C>ACA397505495GEMIN4c.2151G>T (p.Glu717Asp)
c.2118G>T (p.Glu706Asp)
c.2163G>T (p.Glu721Asp)
17g.745892C>GCA397505497GEMIN4c.2151G>C (p.Glu717Asp)
c.2118G>C (p.Glu706Asp)
c.2163G>C (p.Glu721Asp)
17g.745892C>TCA497383664GEMIN4c.2151G>A (p.Glu717=)
c.2118G>A (p.Glu706=)
c.2163G>A (p.Glu721=)
 gnomAD v4
17g.745894_745896delCA2635153277GEMIN4c.2149_2151del (p.Glu717del)
c.2116_2118del (p.Glu706del)
c.2161_2163del (p.Glu721del)
 gnomAD v4
17g.745893T>ACA397505503GEMIN4c.2150A>T (p.Glu717Val)
c.2117A>T (p.Glu706Val)
c.2162A>T (p.Glu721Val)
17g.745893T>CCA397505500GEMIN4c.2150A>G (p.Glu717Gly)
c.2117A>G (p.Glu706Gly)
c.2162A>G (p.Glu721Gly)
 COSMIC COSMIC
17g.745893T>GCA397505501GEMIN4c.2150A>C (p.Glu717Ala)
c.2117A>C (p.Glu706Ala)
c.2162A>C (p.Glu721Ala)
17g.745894C>ACA397505506GEMIN4c.2149G>T (p.Glu717Ter)
c.2116G>T (p.Glu706Ter)
c.2161G>T (p.Glu721Ter)
17g.745894C>GCA397505507GEMIN4c.2149G>C (p.Glu717Gln)
c.2116G>C (p.Glu706Gln)
c.2161G>C (p.Glu721Gln)
17g.745894C>TCA397505508GEMIN4c.2149G>A (p.Glu717Lys)
c.2116G>A (p.Glu706Lys)
c.2161G>A (p.Glu721Lys)
17g.745895C>ACA397505511GEMIN4c.2148G>T (p.Lys716Asn)
c.2115G>T (p.Lys705Asn)
c.2160G>T (p.Lys720Asn)
17g.745895C=CA2242474465GEMIN4c.2148G= (p.Lys716=)
c.2115G= (p.Lys705=)
c.2160G= (p.Lys720=)
17g.745895C>GCA397505512GEMIN4c.2148G>C (p.Lys716Asn)
c.2115G>C (p.Lys705Asn)
c.2160G>C (p.Lys720Asn)
17g.745895C>TCA8262472GEMIN4c.2148G>A (p.Lys716=)
c.2115G>A (p.Lys705=)
c.2160G>A (p.Lys720=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745896T>ACA397505516GEMIN4c.2147A>T (p.Lys716Met)
c.2114A>T (p.Lys705Met)
c.2159A>T (p.Lys720Met)
17g.745896T>CCA397505518GEMIN4c.2147A>G (p.Lys716Arg)
c.2114A>G (p.Lys705Arg)
c.2159A>G (p.Lys720Arg)
17g.745896T>GCA397505519GEMIN4c.2147A>C (p.Lys716Thr)
c.2114A>C (p.Lys705Thr)
c.2159A>C (p.Lys720Thr)
17g.745896_745897dupCA774955099GEMIN4c.2146_2147dup (p.Glu717ArgfsTer13)
c.2113_2114dup (p.Glu706ArgfsTer13)
c.2158_2159dup (p.Glu721ArgfsTer13)
 dbSNP gnomAD v4
17g.745897T>ACA397505521GEMIN4c.2146A>T (p.Lys716Ter)
c.2113A>T (p.Lys705Ter)
c.2158A>T (p.Lys720Ter)
17g.745897T>CCA397505523GEMIN4c.2146A>G (p.Lys716Glu)
c.2113A>G (p.Lys705Glu)
c.2158A>G (p.Lys720Glu)
 dbSNP gnomAD v2 gnomAD v4
17g.745897T>GCA8262473GEMIN4c.2146A>C (p.Lys716Gln)
c.2113A>C (p.Lys705Gln)
c.2158A>C (p.Lys720Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745897T=CA2242474466GEMIN4c.2146A= (p.Lys716=)
c.2113A= (p.Lys705=)
c.2158A= (p.Lys720=)
17g.745898G>ACA497383668GEMIN4c.2145C>T (p.Pro715=)
c.2112C>T (p.Pro704=)
c.2157C>T (p.Pro719=)
 gnomAD v4
17g.745898G>CCA497383670GEMIN4c.2145C>G (p.Pro715=)
c.2112C>G (p.Pro704=)
c.2157C>G (p.Pro719=)
 dbSNP gnomAD v4
17g.745898G=CA2242474467GEMIN4c.2145C= (p.Pro715=)
c.2112C= (p.Pro704=)
c.2157C= (p.Pro719=)
17g.745898G>TCA497383669GEMIN4c.2145C>A (p.Pro715=)
c.2112C>A (p.Pro704=)
c.2157C>A (p.Pro719=)
 gnomAD v4
17g.745899G>ACA397505528GEMIN4c.2144C>T (p.Pro715Leu)
c.2111C>T (p.Pro704Leu)
c.2156C>T (p.Pro719Leu)
17g.745899G>CCA397505529GEMIN4c.2144C>G (p.Pro715Arg)
c.2111C>G (p.Pro704Arg)
c.2156C>G (p.Pro719Arg)
17g.745899G=CA2242474468GEMIN4c.2144C= (p.Pro715=)
c.2111C= (p.Pro704=)
c.2156C= (p.Pro719=)
17g.745899G>TCA397505527GEMIN4c.2144C>A (p.Pro715His)
c.2111C>A (p.Pro704His)
c.2156C>A (p.Pro719His)
17g.745899_745900insACTCCCA8262474GEMIN4c.2143_2144insGGAGT (p.Pro715ArgfsTer16)
c.2110_2111insGGAGT (p.Pro704ArgfsTer16)
c.2155_2156insGGAGT (p.Pro719ArgfsTer16)
 dbSNP ExAC gnomAD v2
17g.745900G>ACA397505532GEMIN4c.2143C>T (p.Pro715Ser)
c.2110C>T (p.Pro704Ser)
c.2155C>T (p.Pro719Ser)
17g.745900G>CCA397505534GEMIN4c.2143C>G (p.Pro715Ala)
c.2110C>G (p.Pro704Ala)
c.2155C>G (p.Pro719Ala)
17g.745900G=CA2242474469GEMIN4c.2143C= (p.Pro715=)
c.2110C= (p.Pro704=)
c.2155C= (p.Pro719=)
17g.745900G>TCA397505536GEMIN4c.2143C>A (p.Pro715Thr)
c.2110C>A (p.Pro704Thr)
c.2155C>A (p.Pro719Thr)
17g.745900_745901insTCTCAAAAAATAAAAATAAAATACA8262475GEMIN4c.2142_2143insTATTTTATTTTTATTTTTTGAGA (p.Pro715TyrfsTer7)
c.2109_2110insTATTTTATTTTTATTTTTTGAGA (p.Pro704TyrfsTer7)
c.2154_2155insTATTTTATTTTTATTTTTTGAGA (p.Pro719TyrfsTer7)
 dbSNP ExAC
17g.745900_745901insTCTCAAAAAATAAAAATAAAATAAATCA624456765GEMIN4c.2142_2143insATTTATTTTATTTTTATTTTTTGAGA (p.Pro715IlefsTer8)
c.2109_2110insATTTATTTTATTTTTATTTTTTGAGA (p.Pro704IlefsTer8)
c.2154_2155insATTTATTTTATTTTTATTTTTTGAGA (p.Pro719IlefsTer8)
 dbSNP gnomAD v2
17g.745901A=CA2242474471GEMIN4c.2142T= (p.Leu714=)
c.2109T= (p.Leu703=)
c.2154T= (p.Leu718=)
17g.745901A>CCA497383675GEMIN4c.2142T>G (p.Leu714=)
c.2109T>G (p.Leu703=)
c.2154T>G (p.Leu718=)
17g.745901A>GCA286713666GEMIN4c.2142T>C (p.Leu714=)
c.2109T>C (p.Leu703=)
c.2154T>C (p.Leu718=)
 dbSNP gnomAD v3 gnomAD v4
17g.745901A>TCA497383676GEMIN4c.2142T>A (p.Leu714=)
c.2109T>A (p.Leu703=)
c.2154T>A (p.Leu718=)
17g.745901_745915delinsAAGCTGCCAGTATTTCA2242474470GEMIN4c.2128_2142delinsAAATACTGGCAGCTT (p.Lys710=)
c.2095_2109delinsAAATACTGGCAGCTT (p.Lys699=)
c.2140_2154delinsAAATACTGGCAGCTT (p.Lys714=)
17g.745902A>CCA397505540GEMIN4c.2141T>G (p.Leu714Arg)
c.2108T>G (p.Leu703Arg)
c.2153T>G (p.Leu718Arg)
17g.745902A>GCA397505542GEMIN4c.2141T>C (p.Leu714Pro)
c.2108T>C (p.Leu703Pro)
c.2153T>C (p.Leu718Pro)
17g.745902A>TCA397505544GEMIN4c.2141T>A (p.Leu714His)
c.2108T>A (p.Leu703His)
c.2153T>A (p.Leu718His)
17g.745902_745915delCA2242474472GEMIN4c.2128_2141del (p.Lys710SerfsTer11)
c.2095_2108del (p.Lys699SerfsTer11)
c.2140_2153del (p.Lys714SerfsTer11)
 dbSNP
17g.745903G>ACA8262477GEMIN4c.2140C>T (p.Leu714Phe)
c.2107C>T (p.Leu703Phe)
c.2152C>T (p.Leu718Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745903G>CCA397505550GEMIN4c.2140C>G (p.Leu714Val)
c.2107C>G (p.Leu703Val)
c.2152C>G (p.Leu718Val)
17g.745903G=CA2242474473GEMIN4c.2140C= (p.Leu714=)
c.2107C= (p.Leu703=)
c.2152C= (p.Leu718=)
17g.745903G>TCA8262476GEMIN4c.2140C>A (p.Leu714Ile)
c.2107C>A (p.Leu703Ile)
c.2152C>A (p.Leu718Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745904C>ACA397505554GEMIN4c.2139G>T (p.Gln713His)
c.2106G>T (p.Gln702His)
c.2151G>T (p.Gln717His)
17g.745904C=CA2242474474GEMIN4c.2139G= (p.Gln713=)
c.2106G= (p.Gln702=)
c.2151G= (p.Gln717=)
17g.745904C>GCA397505556GEMIN4c.2139G>C (p.Gln713His)
c.2106G>C (p.Gln702His)
c.2151G>C (p.Gln717His)
 dbSNP gnomAD v3 gnomAD v4
17g.745904C>TCA497383678GEMIN4c.2139G>A (p.Gln713=)
c.2106G>A (p.Gln702=)
c.2151G>A (p.Gln717=)
17g.745905T>ACA397505563GEMIN4c.2138A>T (p.Gln713Leu)
c.2105A>T (p.Gln702Leu)
c.2150A>T (p.Gln717Leu)
17g.745905T>CCA397505559GEMIN4c.2138A>G (p.Gln713Arg)
c.2105A>G (p.Gln702Arg)
c.2150A>G (p.Gln717Arg)
17g.745905T>GCA397505561GEMIN4c.2138A>C (p.Gln713Pro)
c.2105A>C (p.Gln702Pro)
c.2150A>C (p.Gln717Pro)
17g.745906G>ACA397505565GEMIN4c.2137C>T (p.Gln713Ter)
c.2104C>T (p.Gln702Ter)
c.2149C>T (p.Gln717Ter)
 gnomAD v4 COSMIC COSMIC
17g.745906G>CCA397505567GEMIN4c.2137C>G (p.Gln713Glu)
c.2104C>G (p.Gln702Glu)
c.2149C>G (p.Gln717Glu)
17g.745906G>TCA397505569GEMIN4c.2137C>A (p.Gln713Lys)
c.2104C>A (p.Gln702Lys)
c.2149C>A (p.Gln717Lys)
17g.745907C>ACA397505571GEMIN4c.2136G>T (p.Trp712Cys)
c.2103G>T (p.Trp701Cys)
c.2148G>T (p.Trp716Cys)
17g.745907C>GCA397505573GEMIN4c.2136G>C (p.Trp712Cys)
c.2103G>C (p.Trp701Cys)
c.2148G>C (p.Trp716Cys)
17g.745907C>TCA397505575GEMIN4c.2136G>A (p.Trp712Ter)
c.2103G>A (p.Trp701Ter)
c.2148G>A (p.Trp716Ter)

Number of alleles fetched