Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.745767A>CCA397504172GEMIN4c.2276T>G (p.Leu759Arg)
c.2243T>G (p.Leu748Arg)
c.2288T>G (p.Leu763Arg)
17g.745767A>GCA397504173GEMIN4c.2276T>C (p.Leu759Pro)
c.2243T>C (p.Leu748Pro)
c.2288T>C (p.Leu763Pro)
 gnomAD v4
17g.745767A>TCA397504174GEMIN4c.2276T>A (p.Leu759His)
c.2243T>A (p.Leu748His)
c.2288T>A (p.Leu763His)
17g.745768G>ACA397504175GEMIN4c.2275C>T (p.Leu759Phe)
c.2242C>T (p.Leu748Phe)
c.2287C>T (p.Leu763Phe)
17g.745768G>CCA397504176GEMIN4c.2275C>G (p.Leu759Val)
c.2242C>G (p.Leu748Val)
c.2287C>G (p.Leu763Val)
17g.745768G>TCA397504177GEMIN4c.2275C>A (p.Leu759Ile)
c.2242C>A (p.Leu748Ile)
c.2287C>A (p.Leu763Ile)
17g.745769C>ACA397504178GEMIN4c.2274G>T (p.Trp758Cys)
c.2241G>T (p.Trp747Cys)
c.2286G>T (p.Trp762Cys)
17g.745769C=CA2242474405GEMIN4c.2274G= (p.Trp758=)
c.2241G= (p.Trp747=)
c.2286G= (p.Trp762=)
17g.745769C>GCA397504179GEMIN4c.2274G>C (p.Trp758Cys)
c.2241G>C (p.Trp747Cys)
c.2286G>C (p.Trp762Cys)
 dbSNP gnomAD v2 gnomAD v4
17g.745769C>TCA397504180GEMIN4c.2274G>A (p.Trp758Ter)
c.2241G>A (p.Trp747Ter)
c.2286G>A (p.Trp762Ter)
17g.745770C>ACA397504181GEMIN4c.2273G>T (p.Trp758Leu)
c.2240G>T (p.Trp747Leu)
c.2285G>T (p.Trp762Leu)
17g.745770C=CA2242474406GEMIN4c.2273G= (p.Trp758=)
c.2240G= (p.Trp747=)
c.2285G= (p.Trp762=)
17g.745770C>GCA8262445GEMIN4c.2273G>C (p.Trp758Ser)
c.2240G>C (p.Trp747Ser)
c.2285G>C (p.Trp762Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745770C>TCA397504182GEMIN4c.2273G>A (p.Trp758Ter)
c.2240G>A (p.Trp747Ter)
c.2285G>A (p.Trp762Ter)
17g.745771A>CCA397504185GEMIN4c.2272T>G (p.Trp758Gly)
c.2239T>G (p.Trp747Gly)
c.2284T>G (p.Trp762Gly)
17g.745771A>GCA397504183GEMIN4c.2272T>C (p.Trp758Arg)
c.2239T>C (p.Trp747Arg)
c.2284T>C (p.Trp762Arg)
17g.745771A>TCA397504184GEMIN4c.2272T>A (p.Trp758Arg)
c.2239T>A (p.Trp747Arg)
c.2284T>A (p.Trp762Arg)
17g.745772G>ACA497384353GEMIN4c.2271C>T (p.Ser757=)
c.2238C>T (p.Ser746=)
c.2283C>T (p.Ser761=)
 dbSNP gnomAD v2 gnomAD v4
17g.745772G>CCA497384354GEMIN4c.2271C>G (p.Ser757=)
c.2238C>G (p.Ser746=)
c.2283C>G (p.Ser761=)
 dbSNP gnomAD v4
17g.745772G=CA2242474407GEMIN4c.2271C= (p.Ser757=)
c.2238C= (p.Ser746=)
c.2283C= (p.Ser761=)
17g.745772G>TCA497384355GEMIN4c.2271C>A (p.Ser757=)
c.2238C>A (p.Ser746=)
c.2283C>A (p.Ser761=)
 COSMIC COSMIC
17g.745773G>ACA286713661GEMIN4c.2270C>T (p.Ser757Phe)
c.2237C>T (p.Ser746Phe)
c.2282C>T (p.Ser761Phe)
 dbSNP gnomAD v3 gnomAD v4
17g.745773G>CCA8262446GEMIN4c.2270C>G (p.Ser757Cys)
c.2237C>G (p.Ser746Cys)
c.2282C>G (p.Ser761Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745773G=CA2242474408GEMIN4c.2270C= (p.Ser757=)
c.2237C= (p.Ser746=)
c.2282C= (p.Ser761=)
17g.745773G>TCA397504186GEMIN4c.2270C>A (p.Ser757Tyr)
c.2237C>A (p.Ser746Tyr)
c.2282C>A (p.Ser761Tyr)
17g.745774A>CCA397504187GEMIN4c.2269T>G (p.Ser757Ala)
c.2236T>G (p.Ser746Ala)
c.2281T>G (p.Ser761Ala)
17g.745774A>GCA397504188GEMIN4c.2269T>C (p.Ser757Pro)
c.2236T>C (p.Ser746Pro)
c.2281T>C (p.Ser761Pro)
17g.745774A>TCA397504189GEMIN4c.2269T>A (p.Ser757Thr)
c.2236T>A (p.Ser746Thr)
c.2281T>A (p.Ser761Thr)
17g.745775C>ACA497384360GEMIN4c.2268G>T (p.Leu756=)
c.2235G>T (p.Leu745=)
c.2280G>T (p.Leu760=)
17g.745775C>GCA497384361GEMIN4c.2268G>C (p.Leu756=)
c.2235G>C (p.Leu745=)
c.2280G>C (p.Leu760=)
17g.745775C>TCA497384362GEMIN4c.2268G>A (p.Leu756=)
c.2235G>A (p.Leu745=)
c.2280G>A (p.Leu760=)
17g.745776A=CA2242474409GEMIN4c.2267T= (p.Leu756=)
c.2234T= (p.Leu745=)
c.2279T= (p.Leu760=)
17g.745776A>CCA397504190GEMIN4c.2267T>G (p.Leu756Arg)
c.2234T>G (p.Leu745Arg)
c.2279T>G (p.Leu760Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745776A>GCA397504191GEMIN4c.2267T>C (p.Leu756Pro)
c.2234T>C (p.Leu745Pro)
c.2279T>C (p.Leu760Pro)
17g.745776A>TCA397504192GEMIN4c.2267T>A (p.Leu756Gln)
c.2234T>A (p.Leu745Gln)
c.2279T>A (p.Leu760Gln)
17g.745777G>ACA497384366GEMIN4c.2266C>T (p.Leu756=)
c.2233C>T (p.Leu745=)
c.2278C>T (p.Leu760=)
 COSMIC COSMIC
17g.745777G>CCA397504193GEMIN4c.2266C>G (p.Leu756Val)
c.2233C>G (p.Leu745Val)
c.2278C>G (p.Leu760Val)
17g.745777G=CA2242474410GEMIN4c.2266C= (p.Leu756=)
c.2233C= (p.Leu745=)
c.2278C= (p.Leu760=)
17g.745777G>TCA8262447GEMIN4c.2266C>A (p.Leu756Met)
c.2233C>A (p.Leu745Met)
c.2278C>A (p.Leu760Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745778G>ACA497384367GEMIN4c.2265C>T (p.Ser755=)
c.2232C>T (p.Ser744=)
c.2277C>T (p.Ser759=)
 dbSNP gnomAD v2 gnomAD v4
17g.745778G>CCA497384368GEMIN4c.2265C>G (p.Ser755=)
c.2232C>G (p.Ser744=)
c.2277C>G (p.Ser759=)
 gnomAD v4
17g.745778G=CA2242474411GEMIN4c.2265C= (p.Ser755=)
c.2232C= (p.Ser744=)
c.2277C= (p.Ser759=)
17g.745778G>TCA497384369GEMIN4c.2265C>A (p.Ser755=)
c.2232C>A (p.Ser744=)
c.2277C>A (p.Ser759=)
 gnomAD v4
17g.745779G>ACA8262448GEMIN4c.2264C>T (p.Ser755Phe)
c.2231C>T (p.Ser744Phe)
c.2276C>T (p.Ser759Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745779G>CCA397504195GEMIN4c.2264C>G (p.Ser755Cys)
c.2231C>G (p.Ser744Cys)
c.2276C>G (p.Ser759Cys)
17g.745779G=CA2242474412GEMIN4c.2264C= (p.Ser755=)
c.2231C= (p.Ser744=)
c.2276C= (p.Ser759=)
17g.745779G>TCA397504194GEMIN4c.2264C>A (p.Ser755Tyr)
c.2231C>A (p.Ser744Tyr)
c.2276C>A (p.Ser759Tyr)
 gnomAD v4
17g.745780A>CCA397504196GEMIN4c.2263T>G (p.Ser755Ala)
c.2230T>G (p.Ser744Ala)
c.2275T>G (p.Ser759Ala)
17g.745780A>GCA397504197GEMIN4c.2263T>C (p.Ser755Pro)
c.2230T>C (p.Ser744Pro)
c.2275T>C (p.Ser759Pro)
17g.745780A>TCA397504198GEMIN4c.2263T>A (p.Ser755Thr)
c.2230T>A (p.Ser744Thr)
c.2275T>A (p.Ser759Thr)
17g.745781C>ACA397504199GEMIN4c.2262G>T (p.Lys754Asn)
c.2229G>T (p.Lys743Asn)
c.2274G>T (p.Lys758Asn)
17g.745781C>GCA397504200GEMIN4c.2262G>C (p.Lys754Asn)
c.2229G>C (p.Lys743Asn)
c.2274G>C (p.Lys758Asn)
17g.745781C>TCA497384373GEMIN4c.2262G>A (p.Lys754=)
c.2229G>A (p.Lys743=)
c.2274G>A (p.Lys758=)
 gnomAD v2
17g.745781_745782delinsCTCA2242474413GEMIN4c.2261_2262delinsAG (p.Lys754=)
c.2228_2229delinsAG (p.Lys743=)
c.2273_2274delinsAG (p.Lys758=)
17g.745782T>ACA397504201GEMIN4c.2261A>T (p.Lys754Met)
c.2228A>T (p.Lys743Met)
c.2273A>T (p.Lys758Met)
17g.745782T>CCA397504202GEMIN4c.2261A>G (p.Lys754Arg)
c.2228A>G (p.Lys743Arg)
c.2273A>G (p.Lys758Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745782T>GCA397504203GEMIN4c.2261A>C (p.Lys754Thr)
c.2228A>C (p.Lys743Thr)
c.2273A>C (p.Lys758Thr)
17g.745782T=CA2242474414GEMIN4c.2261A= (p.Lys754=)
c.2228A= (p.Lys743=)
c.2273A= (p.Lys758=)
17g.745783delCA624456767GEMIN4c.2261del (p.Lys754SerfsTer10)
c.2228del (p.Lys743SerfsTer10)
c.2273del (p.Lys758SerfsTer10)
 dbSNP gnomAD v2 gnomAD v4
17g.745783T>ACA397504204GEMIN4c.2260A>T (p.Lys754Ter)
c.2227A>T (p.Lys743Ter)
c.2272A>T (p.Lys758Ter)
17g.745783T>CCA397504205GEMIN4c.2260A>G (p.Lys754Glu)
c.2227A>G (p.Lys743Glu)
c.2272A>G (p.Lys758Glu)
 gnomAD v4
17g.745783T>GCA397504206GEMIN4c.2260A>C (p.Lys754Gln)
c.2227A>C (p.Lys743Gln)
c.2272A>C (p.Lys758Gln)
17g.745784G>ACA497384376GEMIN4c.2259C>T (p.Ile753=)
c.2226C>T (p.Ile742=)
c.2271C>T (p.Ile757=)
17g.745784G>CCA397504207GEMIN4c.2259C>G (p.Ile753Met)
c.2226C>G (p.Ile742Met)
c.2271C>G (p.Ile757Met)
17g.745784G>TCA497384377GEMIN4c.2259C>A (p.Ile753=)
c.2226C>A (p.Ile742=)
c.2271C>A (p.Ile757=)
 gnomAD v4
17g.745785A>CCA397504210GEMIN4c.2258T>G (p.Ile753Ser)
c.2225T>G (p.Ile742Ser)
c.2270T>G (p.Ile757Ser)
17g.745785A>GCA397504209GEMIN4c.2258T>C (p.Ile753Thr)
c.2225T>C (p.Ile742Thr)
c.2270T>C (p.Ile757Thr)
17g.745785A>TCA397504208GEMIN4c.2258T>A (p.Ile753Asn)
c.2225T>A (p.Ile742Asn)
c.2270T>A (p.Ile757Asn)
17g.745786T>ACA397504211GEMIN4c.2257A>T (p.Ile753Phe)
c.2224A>T (p.Ile742Phe)
c.2269A>T (p.Ile757Phe)
17g.745786T>CCA397504212GEMIN4c.2257A>G (p.Ile753Val)
c.2224A>G (p.Ile742Val)
c.2269A>G (p.Ile757Val)
 dbSNP gnomAD v4
17g.745786T>GCA397504213GEMIN4c.2257A>C (p.Ile753Leu)
c.2224A>C (p.Ile742Leu)
c.2269A>C (p.Ile757Leu)
17g.745786T=CA2242474415GEMIN4c.2257A= (p.Ile753=)
c.2224A= (p.Ile742=)
c.2269A= (p.Ile757=)
17g.745787C>ACA397504214GEMIN4c.2256G>T (p.Trp752Cys)
c.2223G>T (p.Trp741Cys)
c.2268G>T (p.Trp756Cys)
 gnomAD v4
17g.745787C>GCA397504215GEMIN4c.2256G>C (p.Trp752Cys)
c.2223G>C (p.Trp741Cys)
c.2268G>C (p.Trp756Cys)
17g.745787C>TCA397504216GEMIN4c.2256G>A (p.Trp752Ter)
c.2223G>A (p.Trp741Ter)
c.2268G>A (p.Trp756Ter)
17g.745787_745788delinsTTCA645586969GEMIN4c.2255_2256delinsAA (p.Trp752Ter)
c.2222_2223delinsAA (p.Trp741Ter)
c.2267_2268delinsAA (p.Trp756Ter)
 COSMIC COSMIC
17g.745788C>ACA397504217GEMIN4c.2255G>T (p.Trp752Leu)
c.2222G>T (p.Trp741Leu)
c.2267G>T (p.Trp756Leu)
17g.745788C>GCA397504218GEMIN4c.2255G>C (p.Trp752Ser)
c.2222G>C (p.Trp741Ser)
c.2267G>C (p.Trp756Ser)
17g.745788C>TCA397504219GEMIN4c.2255G>A (p.Trp752Ter)
c.2222G>A (p.Trp741Ter)
c.2267G>A (p.Trp756Ter)
 gnomAD v4
17g.745789A>CCA397504220GEMIN4c.2254T>G (p.Trp752Gly)
c.2221T>G (p.Trp741Gly)
c.2266T>G (p.Trp756Gly)
17g.745789A>GCA397504221GEMIN4c.2254T>C (p.Trp752Arg)
c.2221T>C (p.Trp741Arg)
c.2266T>C (p.Trp756Arg)
17g.745789A>TCA397504222GEMIN4c.2254T>A (p.Trp752Arg)
c.2221T>A (p.Trp741Arg)
c.2266T>A (p.Trp756Arg)
17g.745790G>ACA497384383GEMIN4c.2253C>T (p.Val751=)
c.2220C>T (p.Val740=)
c.2265C>T (p.Val755=)
17g.745790G>CCA497384385GEMIN4c.2253C>G (p.Val751=)
c.2220C>G (p.Val740=)
c.2265C>G (p.Val755=)
17g.745790G>TCA497384387GEMIN4c.2253C>A (p.Val751=)
c.2220C>A (p.Val740=)
c.2265C>A (p.Val755=)
17g.745791A>CCA397504225GEMIN4c.2252T>G (p.Val751Gly)
c.2219T>G (p.Val740Gly)
c.2264T>G (p.Val755Gly)
17g.745791A>GCA397504224GEMIN4c.2252T>C (p.Val751Ala)
c.2219T>C (p.Val740Ala)
c.2264T>C (p.Val755Ala)
17g.745791A>TCA397504223GEMIN4c.2252T>A (p.Val751Asp)
c.2219T>A (p.Val740Asp)
c.2264T>A (p.Val755Asp)
17g.745792C>ACA397504226GEMIN4c.2251G>T (p.Val751Phe)
c.2218G>T (p.Val740Phe)
c.2263G>T (p.Val755Phe)
17g.745792C>GCA397504228GEMIN4c.2251G>C (p.Val751Leu)
c.2218G>C (p.Val740Leu)
c.2263G>C (p.Val755Leu)
17g.745792C>TCA397504227GEMIN4c.2251G>A (p.Val751Ile)
c.2218G>A (p.Val740Ile)
c.2263G>A (p.Val755Ile)
 gnomAD v4
17g.745793A>CCA397504229GEMIN4c.2250T>G (p.Asp750Glu)
c.2217T>G (p.Asp739Glu)
c.2262T>G (p.Asp754Glu)
17g.745793A>GCA497384388GEMIN4c.2250T>C (p.Asp750=)
c.2217T>C (p.Asp739=)
c.2262T>C (p.Asp754=)
17g.745793A>TCA397504230GEMIN4c.2250T>A (p.Asp750Glu)
c.2217T>A (p.Asp739Glu)
c.2262T>A (p.Asp754Glu)
17g.745794T>ACA397504231GEMIN4c.2249A>T (p.Asp750Val)
c.2216A>T (p.Asp739Val)
c.2261A>T (p.Asp754Val)
17g.745794T>CCA397504232GEMIN4c.2249A>G (p.Asp750Gly)
c.2216A>G (p.Asp739Gly)
c.2261A>G (p.Asp754Gly)
17g.745794T>GCA397504233GEMIN4c.2249A>C (p.Asp750Ala)
c.2216A>C (p.Asp739Ala)
c.2261A>C (p.Asp754Ala)
17g.745795C>ACA397504234GEMIN4c.2248G>T (p.Asp750Tyr)
c.2215G>T (p.Asp739Tyr)
c.2260G>T (p.Asp754Tyr)
17g.745795C>GCA397504235GEMIN4c.2248G>C (p.Asp750His)
c.2215G>C (p.Asp739His)
c.2260G>C (p.Asp754His)
17g.745795C>TCA397504236GEMIN4c.2248G>A (p.Asp750Asn)
c.2215G>A (p.Asp739Asn)
c.2260G>A (p.Asp754Asn)
17g.745796C>ACA497384391GEMIN4c.2247G>T (p.Pro749=)
c.2214G>T (p.Pro738=)
c.2259G>T (p.Pro753=)
 gnomAD v4
17g.745796C=CA2242474416GEMIN4c.2247G= (p.Pro749=)
c.2214G= (p.Pro738=)
c.2259G= (p.Pro753=)
17g.745796C>GCA497384393GEMIN4c.2247G>C (p.Pro749=)
c.2214G>C (p.Pro738=)
c.2259G>C (p.Pro753=)
17g.745796C>TCA8262449GEMIN4c.2247G>A (p.Pro749=)
c.2214G>A (p.Pro738=)
c.2259G>A (p.Pro753=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745797G>ACA8262450GEMIN4c.2246C>T (p.Pro749Leu)
c.2213C>T (p.Pro738Leu)
c.2258C>T (p.Pro753Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745797G>CCA397504237GEMIN4c.2246C>G (p.Pro749Arg)
c.2213C>G (p.Pro738Arg)
c.2258C>G (p.Pro753Arg)
 gnomAD v4
17g.745797G=CA2242474417GEMIN4c.2246C= (p.Pro749=)
c.2213C= (p.Pro738=)
c.2258C= (p.Pro753=)
17g.745797G>TCA397504238GEMIN4c.2246C>A (p.Pro749Gln)
c.2213C>A (p.Pro738Gln)
c.2258C>A (p.Pro753Gln)
17g.745798G>ACA397504240GEMIN4c.2245C>T (p.Pro749Ser)
c.2212C>T (p.Pro738Ser)
c.2257C>T (p.Pro753Ser)
 dbSNP gnomAD v2
17g.745798G>CCA8262451GEMIN4c.2245C>G (p.Pro749Ala)
c.2212C>G (p.Pro738Ala)
c.2257C>G (p.Pro753Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745798G=CA2242474418GEMIN4c.2245C= (p.Pro749=)
c.2212C= (p.Pro738=)
c.2257C= (p.Pro753=)
17g.745798G>TCA397504239GEMIN4c.2245C>A (p.Pro749Thr)
c.2212C>A (p.Pro738Thr)
c.2257C>A (p.Pro753Thr)
17g.745799G>ACA497384396GEMIN4c.2244C>T (p.Ser748=)
c.2211C>T (p.Ser737=)
c.2256C>T (p.Ser752=)
 dbSNP
17g.745799G>CCA497384397GEMIN4c.2244C>G (p.Ser748=)
c.2211C>G (p.Ser737=)
c.2256C>G (p.Ser752=)
17g.745799G=CA2242474419GEMIN4c.2244C= (p.Ser748=)
c.2211C= (p.Ser737=)
c.2256C= (p.Ser752=)
17g.745799G>TCA497384398GEMIN4c.2244C>A (p.Ser748=)
c.2211C>A (p.Ser737=)
c.2256C>A (p.Ser752=)
 dbSNP gnomAD v3 gnomAD v4
17g.745800G>ACA397504241GEMIN4c.2243C>T (p.Ser748Phe)
c.2210C>T (p.Ser737Phe)
c.2255C>T (p.Ser752Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.745800G>CCA397504242GEMIN4c.2243C>G (p.Ser748Cys)
c.2210C>G (p.Ser737Cys)
c.2255C>G (p.Ser752Cys)
 gnomAD v4
17g.745800G=CA2242474420GEMIN4c.2243C= (p.Ser748=)
c.2210C= (p.Ser737=)
c.2255C= (p.Ser752=)
17g.745800G>TCA397504243GEMIN4c.2243C>A (p.Ser748Tyr)
c.2210C>A (p.Ser737Tyr)
c.2255C>A (p.Ser752Tyr)
17g.745801A>CCA397504244GEMIN4c.2242T>G (p.Ser748Ala)
c.2209T>G (p.Ser737Ala)
c.2254T>G (p.Ser752Ala)
17g.745801A>GCA397504245GEMIN4c.2242T>C (p.Ser748Pro)
c.2209T>C (p.Ser737Pro)
c.2254T>C (p.Ser752Pro)
17g.745801A>TCA397504246GEMIN4c.2242T>A (p.Ser748Thr)
c.2209T>A (p.Ser737Thr)
c.2254T>A (p.Ser752Thr)
17g.745803_745805delCA2635153094GEMIN4c.2240_2242del (p.Phe747del)
c.2207_2209del (p.Phe736del)
c.2252_2254del (p.Phe751del)
 gnomAD v4
17g.745802G>ACA497384402GEMIN4c.2241C>T (p.Phe747=)
c.2208C>T (p.Phe736=)
c.2253C>T (p.Phe751=)
17g.745802G>CCA397504247GEMIN4c.2241C>G (p.Phe747Leu)
c.2208C>G (p.Phe736Leu)
c.2253C>G (p.Phe751Leu)
17g.745802G>TCA397504248GEMIN4c.2241C>A (p.Phe747Leu)
c.2208C>A (p.Phe736Leu)
c.2253C>A (p.Phe751Leu)
17g.745803A>CCA397504249GEMIN4c.2240T>G (p.Phe747Cys)
c.2207T>G (p.Phe736Cys)
c.2252T>G (p.Phe751Cys)
17g.745803A>GCA397504250GEMIN4c.2240T>C (p.Phe747Ser)
c.2207T>C (p.Phe736Ser)
c.2252T>C (p.Phe751Ser)
17g.745803A>TCA397504251GEMIN4c.2240T>A (p.Phe747Tyr)
c.2207T>A (p.Phe736Tyr)
c.2252T>A (p.Phe751Tyr)
17g.745804A=CA2242474421GEMIN4c.2239T= (p.Phe747=)
c.2206T= (p.Phe736=)
c.2251T= (p.Phe751=)
17g.745804A>CCA397504254GEMIN4c.2239T>G (p.Phe747Val)
c.2206T>G (p.Phe736Val)
c.2251T>G (p.Phe751Val)
17g.745804A>GCA397504253GEMIN4c.2239T>C (p.Phe747Leu)
c.2206T>C (p.Phe736Leu)
c.2251T>C (p.Phe751Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.745804A>TCA397504252GEMIN4c.2239T>A (p.Phe747Ile)
c.2206T>A (p.Phe736Ile)
c.2251T>A (p.Phe751Ile)
 gnomAD v4
17g.745805G>ACA8262452GEMIN4c.2238C>T (p.Thr746=)
c.2205C>T (p.Thr735=)
c.2250C>T (p.Thr750=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745805G>CCA497384407GEMIN4c.2238C>G (p.Thr746=)
c.2205C>G (p.Thr735=)
c.2250C>G (p.Thr750=)
17g.745805G=CA2242474422GEMIN4c.2238C= (p.Thr746=)
c.2205C= (p.Thr735=)
c.2250C= (p.Thr750=)
17g.745805G>TCA497384406GEMIN4c.2238C>A (p.Thr746=)
c.2205C>A (p.Thr735=)
c.2250C>A (p.Thr750=)
17g.745806G>ACA397504255GEMIN4c.2237C>T (p.Thr746Ile)
c.2204C>T (p.Thr735Ile)
c.2249C>T (p.Thr750Ile)
 gnomAD v4
17g.745806G>CCA397504256GEMIN4c.2237C>G (p.Thr746Ser)
c.2204C>G (p.Thr735Ser)
c.2249C>G (p.Thr750Ser)
17g.745806G>TCA397504257GEMIN4c.2237C>A (p.Thr746Asn)
c.2204C>A (p.Thr735Asn)
c.2249C>A (p.Thr750Asn)
 gnomAD v4
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)

Number of alleles fetched