Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
 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)

Number of alleles fetched