Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched