Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
17g.745908C>ACA397505577GEMIN4c.2135G>T (p.Trp712Leu)
c.2102G>T (p.Trp701Leu)
c.2147G>T (p.Trp716Leu)
17g.745908C>GCA397505579GEMIN4c.2135G>C (p.Trp712Ser)
c.2102G>C (p.Trp701Ser)
c.2147G>C (p.Trp716Ser)
17g.745908C>TCA397505581GEMIN4c.2135G>A (p.Trp712Ter)
c.2102G>A (p.Trp701Ter)
c.2147G>A (p.Trp716Ter)
17g.745909A>CCA397505584GEMIN4c.2134T>G (p.Trp712Gly)
c.2101T>G (p.Trp701Gly)
c.2146T>G (p.Trp716Gly)
17g.745909A>GCA397505586GEMIN4c.2134T>C (p.Trp712Arg)
c.2101T>C (p.Trp701Arg)
c.2146T>C (p.Trp716Arg)
17g.745909A>TCA397505587GEMIN4c.2134T>A (p.Trp712Arg)
c.2101T>A (p.Trp701Arg)
c.2146T>A (p.Trp716Arg)
17g.745910G>ACA8262478GEMIN4c.2133C>T (p.Tyr711=)
c.2100C>T (p.Tyr700=)
c.2145C>T (p.Tyr715=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745910G>CCA397505592GEMIN4c.2133C>G (p.Tyr711Ter)
c.2100C>G (p.Tyr700Ter)
c.2145C>G (p.Tyr715Ter)
17g.745910G=CA2242474475GEMIN4c.2133C= (p.Tyr711=)
c.2100C= (p.Tyr700=)
c.2145C= (p.Tyr715=)
17g.745910G>TCA397505590GEMIN4c.2133C>A (p.Tyr711Ter)
c.2100C>A (p.Tyr700Ter)
c.2145C>A (p.Tyr715Ter)
17g.745911T>ACA397505596GEMIN4c.2132A>T (p.Tyr711Phe)
c.2099A>T (p.Tyr700Phe)
c.2144A>T (p.Tyr715Phe)
17g.745911T>CCA397505597GEMIN4c.2132A>G (p.Tyr711Cys)
c.2099A>G (p.Tyr700Cys)
c.2144A>G (p.Tyr715Cys)
17g.745911T>GCA397505599GEMIN4c.2132A>C (p.Tyr711Ser)
c.2099A>C (p.Tyr700Ser)
c.2144A>C (p.Tyr715Ser)
17g.745912A=CA2242474476GEMIN4c.2131T= (p.Tyr711=)
c.2098T= (p.Tyr700=)
c.2143T= (p.Tyr715=)
17g.745912A>CCA397505601GEMIN4c.2131T>G (p.Tyr711Asp)
c.2098T>G (p.Tyr700Asp)
c.2143T>G (p.Tyr715Asp)
17g.745912A>GCA286713667GEMIN4c.2131T>C (p.Tyr711His)
c.2098T>C (p.Tyr700His)
c.2143T>C (p.Tyr715His)
 dbSNP
17g.745912A>TCA397505605GEMIN4c.2131T>A (p.Tyr711Asn)
c.2098T>A (p.Tyr700Asn)
c.2143T>A (p.Tyr715Asn)
17g.745913T>ACA397505606GEMIN4c.2130A>T (p.Lys710Asn)
c.2097A>T (p.Lys699Asn)
c.2142A>T (p.Lys714Asn)
17g.745913T>CCA497383686GEMIN4c.2130A>G (p.Lys710=)
c.2097A>G (p.Lys699=)
c.2142A>G (p.Lys714=)
17g.745913T>GCA397505608GEMIN4c.2130A>C (p.Lys710Asn)
c.2097A>C (p.Lys699Asn)
c.2142A>C (p.Lys714Asn)
17g.745914T>ACA397505611GEMIN4c.2129A>T (p.Lys710Ile)
c.2096A>T (p.Lys699Ile)
c.2141A>T (p.Lys714Ile)
17g.745914T>CCA397505613GEMIN4c.2129A>G (p.Lys710Arg)
c.2096A>G (p.Lys699Arg)
c.2141A>G (p.Lys714Arg)
17g.745914T>GCA397505614GEMIN4c.2129A>C (p.Lys710Thr)
c.2096A>C (p.Lys699Thr)
c.2141A>C (p.Lys714Thr)
17g.745915T>ACA397505615GEMIN4c.2128A>T (p.Lys710Ter)
c.2095A>T (p.Lys699Ter)
c.2140A>T (p.Lys714Ter)
17g.745915T>CCA397505617GEMIN4c.2128A>G (p.Lys710Glu)
c.2095A>G (p.Lys699Glu)
c.2140A>G (p.Lys714Glu)
17g.745915T>GCA397505618GEMIN4c.2128A>C (p.Lys710Gln)
c.2095A>C (p.Lys699Gln)
c.2140A>C (p.Lys714Gln)
17g.745916G>ACA497383688GEMIN4c.2127C>T (p.Ser709=)
c.2094C>T (p.Ser698=)
c.2139C>T (p.Ser713=)
 gnomAD v4
17g.745916G>CCA397505623GEMIN4c.2127C>G (p.Ser709Arg)
c.2094C>G (p.Ser698Arg)
c.2139C>G (p.Ser713Arg)
 gnomAD v4
17g.745916G>TCA397505621GEMIN4c.2127C>A (p.Ser709Arg)
c.2094C>A (p.Ser698Arg)
c.2139C>A (p.Ser713Arg)
17g.745917C>ACA397505625GEMIN4c.2126G>T (p.Ser709Ile)
c.2093G>T (p.Ser698Ile)
c.2138G>T (p.Ser713Ile)
 dbSNP gnomAD v2
17g.745917C=CA2242474477GEMIN4c.2126G= (p.Ser709=)
c.2093G= (p.Ser698=)
c.2138G= (p.Ser713=)
17g.745917C>GCA397505627GEMIN4c.2126G>C (p.Ser709Thr)
c.2093G>C (p.Ser698Thr)
c.2138G>C (p.Ser713Thr)
17g.745917C>TCA397505629GEMIN4c.2126G>A (p.Ser709Asn)
c.2093G>A (p.Ser698Asn)
c.2138G>A (p.Ser713Asn)
17g.745918T>ACA397505631GEMIN4c.2125A>T (p.Ser709Cys)
c.2092A>T (p.Ser698Cys)
c.2137A>T (p.Ser713Cys)
17g.745918T>CCA397505633GEMIN4c.2125A>G (p.Ser709Gly)
c.2092A>G (p.Ser698Gly)
c.2137A>G (p.Ser713Gly)
 gnomAD v4
17g.745918T>GCA397505634GEMIN4c.2125A>C (p.Ser709Arg)
c.2092A>C (p.Ser698Arg)
c.2137A>C (p.Ser713Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.745918T=CA2242474478GEMIN4c.2125A= (p.Ser709=)
c.2092A= (p.Ser698=)
c.2137A= (p.Ser713=)
17g.745919G>ACA497383689GEMIN4c.2124C>T (p.Phe708=)
c.2091C>T (p.Phe697=)
c.2136C>T (p.Phe712=)
17g.745919G>CCA397505635GEMIN4c.2124C>G (p.Phe708Leu)
c.2091C>G (p.Phe697Leu)
c.2136C>G (p.Phe712Leu)
17g.745919G>TCA397505637GEMIN4c.2124C>A (p.Phe708Leu)
c.2091C>A (p.Phe697Leu)
c.2136C>A (p.Phe712Leu)
17g.745920A>CCA397505639GEMIN4c.2123T>G (p.Phe708Cys)
c.2090T>G (p.Phe697Cys)
c.2135T>G (p.Phe712Cys)
17g.745920A>GCA397505640GEMIN4c.2123T>C (p.Phe708Ser)
c.2090T>C (p.Phe697Ser)
c.2135T>C (p.Phe712Ser)
17g.745920A>TCA397505641GEMIN4c.2123T>A (p.Phe708Tyr)
c.2090T>A (p.Phe697Tyr)
c.2135T>A (p.Phe712Tyr)
17g.745921A>CCA397505644GEMIN4c.2122T>G (p.Phe708Val)
c.2089T>G (p.Phe697Val)
c.2134T>G (p.Phe712Val)
17g.745921A>GCA397505645GEMIN4c.2122T>C (p.Phe708Leu)
c.2089T>C (p.Phe697Leu)
c.2134T>C (p.Phe712Leu)
17g.745921A>TCA397505647GEMIN4c.2122T>A (p.Phe708Ile)
c.2089T>A (p.Phe697Ile)
c.2134T>A (p.Phe712Ile)
17g.745922G>ACA497383690GEMIN4c.2121C>T (p.Arg707=)
c.2088C>T (p.Arg696=)
c.2133C>T (p.Arg711=)
17g.745922G>CCA497383691GEMIN4c.2121C>G (p.Arg707=)
c.2088C>G (p.Arg696=)
c.2133C>G (p.Arg711=)
17g.745922G>TCA497383692GEMIN4c.2121C>A (p.Arg707=)
c.2088C>A (p.Arg696=)
c.2133C>A (p.Arg711=)
17g.745923C>ACA397505650GEMIN4c.2120G>T (p.Arg707Leu)
c.2087G>T (p.Arg696Leu)
c.2132G>T (p.Arg711Leu)
17g.745923C=CA2242474479GEMIN4c.2120G= (p.Arg707=)
c.2087G= (p.Arg696=)
c.2132G= (p.Arg711=)
17g.745923C>GCA397505651GEMIN4c.2120G>C (p.Arg707Pro)
c.2087G>C (p.Arg696Pro)
c.2132G>C (p.Arg711Pro)
17g.745923C>TCA8262479GEMIN4c.2120G>A (p.Arg707His)
c.2087G>A (p.Arg696His)
c.2132G>A (p.Arg711His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745924G>ACA8262480GEMIN4c.2119C>T (p.Arg707Cys)
c.2086C>T (p.Arg696Cys)
c.2131C>T (p.Arg711Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745924G>CCA397505652GEMIN4c.2119C>G (p.Arg707Gly)
c.2086C>G (p.Arg696Gly)
c.2131C>G (p.Arg711Gly)
17g.745924G=CA2242474480GEMIN4c.2119C= (p.Arg707=)
c.2086C= (p.Arg696=)
c.2131C= (p.Arg711=)
17g.745924G>TCA397505653GEMIN4c.2119C>A (p.Arg707Ser)
c.2086C>A (p.Arg696Ser)
c.2131C>A (p.Arg711Ser)
17g.745925G>ACA497383693GEMIN4c.2118C>T (p.Asp706=)
c.2085C>T (p.Asp695=)
c.2130C>T (p.Asp710=)
17g.745925G>CCA397505654GEMIN4c.2118C>G (p.Asp706Glu)
c.2085C>G (p.Asp695Glu)
c.2130C>G (p.Asp710Glu)
17g.745925G>TCA397505655GEMIN4c.2118C>A (p.Asp706Glu)
c.2085C>A (p.Asp695Glu)
c.2130C>A (p.Asp710Glu)
17g.745926T>ACA397505656GEMIN4c.2117A>T (p.Asp706Val)
c.2084A>T (p.Asp695Val)
c.2129A>T (p.Asp710Val)
17g.745926T>CCA397505657GEMIN4c.2117A>G (p.Asp706Gly)
c.2084A>G (p.Asp695Gly)
c.2129A>G (p.Asp710Gly)
17g.745926T>GCA397505658GEMIN4c.2117A>C (p.Asp706Ala)
c.2084A>C (p.Asp695Ala)
c.2129A>C (p.Asp710Ala)
17g.745927C>ACA397505659GEMIN4c.2116G>T (p.Asp706Tyr)
c.2083G>T (p.Asp695Tyr)
c.2128G>T (p.Asp710Tyr)
17g.745927C>GCA397505660GEMIN4c.2116G>C (p.Asp706His)
c.2083G>C (p.Asp695His)
c.2128G>C (p.Asp710His)
17g.745927C>TCA397505661GEMIN4c.2116G>A (p.Asp706Asn)
c.2083G>A (p.Asp695Asn)
c.2128G>A (p.Asp710Asn)
17g.745928C>ACA397505662GEMIN4c.2115G>T (p.Leu705Phe)
c.2082G>T (p.Leu694Phe)
c.2127G>T (p.Leu709Phe)
17g.745928C=CA2242474481GEMIN4c.2115G= (p.Leu705=)
c.2082G= (p.Leu694=)
c.2127G= (p.Leu709=)
17g.745928C>GCA397505663GEMIN4c.2115G>C (p.Leu705Phe)
c.2082G>C (p.Leu694Phe)
c.2127G>C (p.Leu709Phe)
17g.745928C>TCA497383694GEMIN4c.2115G>A (p.Leu705=)
c.2082G>A (p.Leu694=)
c.2127G>A (p.Leu709=)
 dbSNP gnomAD v4
17g.745929A>CCA397505666GEMIN4c.2114T>G (p.Leu705Trp)
c.2081T>G (p.Leu694Trp)
c.2126T>G (p.Leu709Trp)
17g.745929A>GCA397505665GEMIN4c.2114T>C (p.Leu705Ser)
c.2081T>C (p.Leu694Ser)
c.2126T>C (p.Leu709Ser)
17g.745929A>TCA397505664GEMIN4c.2114T>A (p.Leu705Ter)
c.2081T>A (p.Leu694Ter)
c.2126T>A (p.Leu709Ter)
17g.745930A>CCA397505667GEMIN4c.2113T>G (p.Leu705Val)
c.2080T>G (p.Leu694Val)
c.2125T>G (p.Leu709Val)
17g.745930A>GCA497383695GEMIN4c.2113T>C (p.Leu705=)
c.2080T>C (p.Leu694=)
c.2125T>C (p.Leu709=)
17g.745930A>TCA397505668GEMIN4c.2113T>A (p.Leu705Met)
c.2080T>A (p.Leu694Met)
c.2125T>A (p.Leu709Met)
17g.745931G>ACA497383696GEMIN4c.2112C>T (p.Leu704=)
c.2079C>T (p.Leu693=)
c.2124C>T (p.Leu708=)
17g.745931G>CCA497383697GEMIN4c.2112C>G (p.Leu704=)
c.2079C>G (p.Leu693=)
c.2124C>G (p.Leu708=)
 gnomAD v4
17g.745931G>TCA497383698GEMIN4c.2112C>A (p.Leu704=)
c.2079C>A (p.Leu693=)
c.2124C>A (p.Leu708=)
17g.745932A>CCA397505669GEMIN4c.2111T>G (p.Leu704Arg)
c.2078T>G (p.Leu693Arg)
c.2123T>G (p.Leu708Arg)
17g.745932A>GCA397505670GEMIN4c.2111T>C (p.Leu704Pro)
c.2078T>C (p.Leu693Pro)
c.2123T>C (p.Leu708Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.745932A>TCA397505671GEMIN4c.2111T>A (p.Leu704His)
c.2078T>A (p.Leu693His)
c.2123T>A (p.Leu708His)
17g.745933G>ACA8262481GEMIN4c.2110C>T (p.Leu704Phe)
c.2077C>T (p.Leu693Phe)
c.2122C>T (p.Leu708Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745933G>CCA397505672GEMIN4c.2110C>G (p.Leu704Val)
c.2077C>G (p.Leu693Val)
c.2122C>G (p.Leu708Val)
17g.745933G=CA2242474482GEMIN4c.2110C= (p.Leu704=)
c.2077C= (p.Leu693=)
c.2122C= (p.Leu708=)
17g.745933G>TCA397505673GEMIN4c.2110C>A (p.Leu704Ile)
c.2077C>A (p.Leu693Ile)
c.2122C>A (p.Leu708Ile)
17g.745934C>ACA397505674GEMIN4c.2109G>T (p.Gln703His)
c.2076G>T (p.Gln692His)
c.2121G>T (p.Gln707His)
17g.745934C>GCA397505675GEMIN4c.2109G>C (p.Gln703His)
c.2076G>C (p.Gln692His)
c.2121G>C (p.Gln707His)
 gnomAD v4
17g.745934C>TCA497383702GEMIN4c.2109G>A (p.Gln703=)
c.2076G>A (p.Gln692=)
c.2121G>A (p.Gln707=)
 dbSNP
17g.745935T>ACA397505676GEMIN4c.2108A>T (p.Gln703Leu)
c.2075A>T (p.Gln692Leu)
c.2120A>T (p.Gln707Leu)
 gnomAD v4
17g.745935T>CCA8262482GEMIN4c.2108A>G (p.Gln703Arg)
c.2075A>G (p.Gln692Arg)
c.2120A>G (p.Gln707Arg)
 dbSNP ExAC gnomAD v3 gnomAD v4
17g.745935T>GCA397505677GEMIN4c.2108A>C (p.Gln703Pro)
c.2075A>C (p.Gln692Pro)
c.2120A>C (p.Gln707Pro)
17g.745935T=CA2242474483GEMIN4c.2108A= (p.Gln703=)
c.2075A= (p.Gln692=)
c.2120A= (p.Gln707=)
17g.745936G>ACA397505680GEMIN4c.2107C>T (p.Gln703Ter)
c.2074C>T (p.Gln692Ter)
c.2119C>T (p.Gln707Ter)
17g.745936G>CCA397505679GEMIN4c.2107C>G (p.Gln703Glu)
c.2074C>G (p.Gln692Glu)
c.2119C>G (p.Gln707Glu)
17g.745936G>TCA397505678GEMIN4c.2107C>A (p.Gln703Lys)
c.2074C>A (p.Gln692Lys)
c.2119C>A (p.Gln707Lys)
17g.745937G>ACA8262483GEMIN4c.2106C>T (p.Cys702=)
c.2073C>T (p.Cys691=)
c.2118C>T (p.Cys706=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745937G>CCA397505681GEMIN4c.2106C>G (p.Cys702Trp)
c.2073C>G (p.Cys691Trp)
c.2118C>G (p.Cys706Trp)
17g.745937G=CA2242474484GEMIN4c.2106C= (p.Cys702=)
c.2073C= (p.Cys691=)
c.2118C= (p.Cys706=)
17g.745937G>TCA397505682GEMIN4c.2106C>A (p.Cys702Ter)
c.2073C>A (p.Cys691Ter)
c.2118C>A (p.Cys706Ter)
 dbSNP
17g.745938C>ACA397505683GEMIN4c.2105G>T (p.Cys702Phe)
c.2072G>T (p.Cys691Phe)
c.2117G>T (p.Cys706Phe)
17g.745938C>GCA397505684GEMIN4c.2105G>C (p.Cys702Ser)
c.2072G>C (p.Cys691Ser)
c.2117G>C (p.Cys706Ser)
17g.745938C>TCA397505685GEMIN4c.2105G>A (p.Cys702Tyr)
c.2072G>A (p.Cys691Tyr)
c.2117G>A (p.Cys706Tyr)
 COSMIC COSMIC
17g.745939A>CCA397505686GEMIN4c.2104T>G (p.Cys702Gly)
c.2071T>G (p.Cys691Gly)
c.2116T>G (p.Cys706Gly)
17g.745939A>GCA397505687GEMIN4c.2104T>C (p.Cys702Arg)
c.2071T>C (p.Cys691Arg)
c.2116T>C (p.Cys706Arg)
17g.745939A>TCA397505688GEMIN4c.2104T>A (p.Cys702Ser)
c.2071T>A (p.Cys691Ser)
c.2116T>A (p.Cys706Ser)
17g.745940C>ACA8262484GEMIN4c.2103G>T (p.Leu701Phe)
c.2070G>T (p.Leu690Phe)
c.2115G>T (p.Leu705Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745940C=CA2242474485GEMIN4c.2103G= (p.Leu701=)
c.2070G= (p.Leu690=)
c.2115G= (p.Leu705=)
17g.745940C>GCA397505689GEMIN4c.2103G>C (p.Leu701Phe)
c.2070G>C (p.Leu690Phe)
c.2115G>C (p.Leu705Phe)
 dbSNP gnomAD v4 COSMIC COSMIC
17g.745940C>TCA497383705GEMIN4c.2103G>A (p.Leu701=)
c.2070G>A (p.Leu690=)
c.2115G>A (p.Leu705=)
 dbSNP gnomAD v4
17g.745941A=CA2242474486GEMIN4c.2102T= (p.Leu701=)
c.2069T= (p.Leu690=)
c.2114T= (p.Leu705=)
17g.745941A>CCA397505690GEMIN4c.2102T>G (p.Leu701Trp)
c.2069T>G (p.Leu690Trp)
c.2114T>G (p.Leu705Trp)
17g.745941A>GCA397505691GEMIN4c.2102T>C (p.Leu701Ser)
c.2069T>C (p.Leu690Ser)
c.2114T>C (p.Leu705Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.745941A>TCA8262485GEMIN4c.2102T>A (p.Leu701Ter)
c.2069T>A (p.Leu690Ter)
c.2114T>A (p.Leu705Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745942A>CCA397505693GEMIN4c.2101T>G (p.Leu701Val)
c.2068T>G (p.Leu690Val)
c.2113T>G (p.Leu705Val)
17g.745942A>GCA497383707GEMIN4c.2101T>C (p.Leu701=)
c.2068T>C (p.Leu690=)
c.2113T>C (p.Leu705=)
17g.745942A>TCA397505692GEMIN4c.2101T>A (p.Leu701Met)
c.2068T>A (p.Leu690Met)
c.2113T>A (p.Leu705Met)
17g.745943G>ACA8262486GEMIN4c.2100C>T (p.Ser700=)
c.2067C>T (p.Ser689=)
c.2112C>T (p.Ser704=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745943G>CCA397505694GEMIN4c.2100C>G (p.Ser700Arg)
c.2067C>G (p.Ser689Arg)
c.2112C>G (p.Ser704Arg)
 gnomAD v4
17g.745943G=CA2242474487GEMIN4c.2100C= (p.Ser700=)
c.2067C= (p.Ser689=)
c.2112C= (p.Ser704=)
17g.745943G>TCA397505695GEMIN4c.2100C>A (p.Ser700Arg)
c.2067C>A (p.Ser689Arg)
c.2112C>A (p.Ser704Arg)
17g.745944C>ACA397505696GEMIN4c.2099G>T (p.Ser700Ile)
c.2066G>T (p.Ser689Ile)
c.2111G>T (p.Ser704Ile)
17g.745944C=CA2242474488GEMIN4c.2099G= (p.Ser700=)
c.2066G= (p.Ser689=)
c.2111G= (p.Ser704=)
17g.745944C>GCA397505697GEMIN4c.2099G>C (p.Ser700Thr)
c.2066G>C (p.Ser689Thr)
c.2111G>C (p.Ser704Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745944C>TCA397505698GEMIN4c.2099G>A (p.Ser700Asn)
c.2066G>A (p.Ser689Asn)
c.2111G>A (p.Ser704Asn)
17g.745945T>ACA397505699GEMIN4c.2098A>T (p.Ser700Cys)
c.2065A>T (p.Ser689Cys)
c.2110A>T (p.Ser704Cys)
17g.745945T>CCA397505700GEMIN4c.2098A>G (p.Ser700Gly)
c.2065A>G (p.Ser689Gly)
c.2110A>G (p.Ser704Gly)
17g.745945T>GCA397505701GEMIN4c.2098A>C (p.Ser700Arg)
c.2065A>C (p.Ser689Arg)
c.2110A>C (p.Ser704Arg)
17g.745946G>ACA497383710GEMIN4c.2097C>T (p.Phe699=)
c.2064C>T (p.Phe688=)
c.2109C>T (p.Phe703=)
 gnomAD v4
17g.745946G>CCA397505702GEMIN4c.2097C>G (p.Phe699Leu)
c.2064C>G (p.Phe688Leu)
c.2109C>G (p.Phe703Leu)
17g.745946G>TCA397505703GEMIN4c.2097C>A (p.Phe699Leu)
c.2064C>A (p.Phe688Leu)
c.2109C>A (p.Phe703Leu)
17g.745949_745959dupCA2733062619GEMIN4c.2087_2097dup (p.Ser700HisfsTer33)
c.2054_2064dup (p.Ser689HisfsTer33)
c.2099_2109dup (p.Ser704HisfsTer33)
 dbSNP
17g.745947A>CCA397505704GEMIN4c.2096T>G (p.Phe699Cys)
c.2063T>G (p.Phe688Cys)
c.2108T>G (p.Phe703Cys)
17g.745947A>GCA397505705GEMIN4c.2096T>C (p.Phe699Ser)
c.2063T>C (p.Phe688Ser)
c.2108T>C (p.Phe703Ser)
17g.745947A>TCA397505706GEMIN4c.2096T>A (p.Phe699Tyr)
c.2063T>A (p.Phe688Tyr)
c.2108T>A (p.Phe703Tyr)
 gnomAD v4
17g.745948A>CCA397505709GEMIN4c.2095T>G (p.Phe699Val)
c.2062T>G (p.Phe688Val)
c.2107T>G (p.Phe703Val)
17g.745948A>GCA397505708GEMIN4c.2095T>C (p.Phe699Leu)
c.2062T>C (p.Phe688Leu)
c.2107T>C (p.Phe703Leu)
17g.745948A>TCA397505707GEMIN4c.2095T>A (p.Phe699Ile)
c.2062T>A (p.Phe688Ile)
c.2107T>A (p.Phe703Ile)
17g.745948_745951delinsAGAGCA2242474489GEMIN4c.2092_2095delinsCTCT (p.Leu698=)
c.2059_2062delinsCTCT (p.Leu687=)
c.2104_2107delinsCTCT (p.Leu702=)
17g.745949G>ACA497383838GEMIN4c.2094C>T (p.Leu698=)
c.2061C>T (p.Leu687=)
c.2106C>T (p.Leu702=)
17g.745949G>CCA497383841GEMIN4c.2094C>G (p.Leu698=)
c.2061C>G (p.Leu687=)
c.2106C>G (p.Leu702=)
17g.745949G>TCA497383843GEMIN4c.2094C>A (p.Leu698=)
c.2061C>A (p.Leu687=)
c.2106C>A (p.Leu702=)
17g.745952_745954delCA2242474490GEMIN4c.2092_2094del (p.Leu698del)
c.2059_2061del (p.Leu687del)
c.2104_2106del (p.Leu702del)
 dbSNP gnomAD v4
17g.745950A>CCA397505710GEMIN4c.2093T>G (p.Leu698Arg)
c.2060T>G (p.Leu687Arg)
c.2105T>G (p.Leu702Arg)
17g.745950A>GCA397505711GEMIN4c.2093T>C (p.Leu698Pro)
c.2060T>C (p.Leu687Pro)
c.2105T>C (p.Leu702Pro)
17g.745950A>TCA397505712GEMIN4c.2093T>A (p.Leu698His)
c.2060T>A (p.Leu687His)
c.2105T>A (p.Leu702His)
17g.745951G>ACA8262487GEMIN4c.2092C>T (p.Leu698Phe)
c.2059C>T (p.Leu687Phe)
c.2104C>T (p.Leu702Phe)
 dbSNP ExAC gnomAD v4
17g.745951G>CCA397505713GEMIN4c.2092C>G (p.Leu698Val)
c.2059C>G (p.Leu687Val)
c.2104C>G (p.Leu702Val)
17g.745951G=CA2242474491GEMIN4c.2092C= (p.Leu698=)
c.2059C= (p.Leu687=)
c.2104C= (p.Leu702=)
17g.745951G>TCA397505714GEMIN4c.2092C>A (p.Leu698Ile)
c.2059C>A (p.Leu687Ile)
c.2104C>A (p.Leu702Ile)
 COSMIC COSMIC
17g.745952G>ACA497383846GEMIN4c.2091C>T (p.Leu697=)
c.2058C>T (p.Leu686=)
c.2103C>T (p.Leu701=)
 gnomAD v4
17g.745952G>CCA497383847GEMIN4c.2091C>G (p.Leu697=)
c.2058C>G (p.Leu686=)
c.2103C>G (p.Leu701=)
17g.745952G=CA2242474492GEMIN4c.2091C= (p.Leu697=)
c.2058C= (p.Leu686=)
c.2103C= (p.Leu701=)
17g.745952G>TCA8262488GEMIN4c.2091C>A (p.Leu697=)
c.2058C>A (p.Leu686=)
c.2103C>A (p.Leu701=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745953A=CA2242474493GEMIN4c.2090T= (p.Leu697=)
c.2057T= (p.Leu686=)
c.2102T= (p.Leu701=)
17g.745953A>CCA397505717GEMIN4c.2090T>G (p.Leu697Arg)
c.2057T>G (p.Leu686Arg)
c.2102T>G (p.Leu701Arg)
 dbSNP gnomAD v3 gnomAD v4
17g.745953A>GCA397505715GEMIN4c.2090T>C (p.Leu697Pro)
c.2057T>C (p.Leu686Pro)
c.2102T>C (p.Leu701Pro)
17g.745953A>TCA397505716GEMIN4c.2090T>A (p.Leu697His)
c.2057T>A (p.Leu686His)
c.2102T>A (p.Leu701His)
17g.745954G>ACA397505718GEMIN4c.2089C>T (p.Leu697Phe)
c.2056C>T (p.Leu686Phe)
c.2101C>T (p.Leu701Phe)
 gnomAD v4
17g.745954G>CCA397505719GEMIN4c.2089C>G (p.Leu697Val)
c.2056C>G (p.Leu686Val)
c.2101C>G (p.Leu701Val)
17g.745954G>TCA397505720GEMIN4c.2089C>A (p.Leu697Ile)
c.2056C>A (p.Leu686Ile)
c.2101C>A (p.Leu701Ile)
17g.745955T>ACA497383853GEMIN4c.2088A>T (p.Pro696=)
c.2055A>T (p.Pro685=)
c.2100A>T (p.Pro700=)
 dbSNP gnomAD v2 gnomAD v4
17g.745955T>CCA497383854GEMIN4c.2088A>G (p.Pro696=)
c.2055A>G (p.Pro685=)
c.2100A>G (p.Pro700=)
17g.745955T>GCA497383856GEMIN4c.2088A>C (p.Pro696=)
c.2055A>C (p.Pro685=)
c.2100A>C (p.Pro700=)
17g.745955T=CA2242474494GEMIN4c.2088A= (p.Pro696=)
c.2055A= (p.Pro685=)
c.2100A= (p.Pro700=)
17g.745956G>ACA397505721GEMIN4c.2087C>T (p.Pro696Leu)
c.2054C>T (p.Pro685Leu)
c.2099C>T (p.Pro700Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.745956G>CCA397505722GEMIN4c.2087C>G (p.Pro696Arg)
c.2054C>G (p.Pro685Arg)
c.2099C>G (p.Pro700Arg)
17g.745956G=CA2242474495GEMIN4c.2087C= (p.Pro696=)
c.2054C= (p.Pro685=)
c.2099C= (p.Pro700=)
17g.745956G>TCA397505723GEMIN4c.2087C>A (p.Pro696Gln)
c.2054C>A (p.Pro685Gln)
c.2099C>A (p.Pro700Gln)
17g.745957G>ACA397505724GEMIN4c.2086C>T (p.Pro696Ser)
c.2053C>T (p.Pro685Ser)
c.2098C>T (p.Pro700Ser)
17g.745957G>CCA397505726GEMIN4c.2086C>G (p.Pro696Ala)
c.2053C>G (p.Pro685Ala)
c.2098C>G (p.Pro700Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745957G=CA2242474496GEMIN4c.2086C= (p.Pro696=)
c.2053C= (p.Pro685=)
c.2098C= (p.Pro700=)
17g.745957G>TCA397505725GEMIN4c.2086C>A (p.Pro696Thr)
c.2053C>A (p.Pro685Thr)
c.2098C>A (p.Pro700Thr)
17g.745958A>CCA397505727GEMIN4c.2085T>G (p.Phe695Leu)
c.2052T>G (p.Phe684Leu)
c.2097T>G (p.Phe699Leu)
17g.745958A>GCA497383862GEMIN4c.2085T>C (p.Phe695=)
c.2052T>C (p.Phe684=)
c.2097T>C (p.Phe699=)
17g.745958A>TCA397505728GEMIN4c.2085T>A (p.Phe695Leu)
c.2052T>A (p.Phe684Leu)
c.2097T>A (p.Phe699Leu)
17g.745959A>CCA397505729GEMIN4c.2084T>G (p.Phe695Cys)
c.2051T>G (p.Phe684Cys)
c.2096T>G (p.Phe699Cys)
17g.745959A>GCA397505730GEMIN4c.2084T>C (p.Phe695Ser)
c.2051T>C (p.Phe684Ser)
c.2096T>C (p.Phe699Ser)
17g.745959A>TCA397505731GEMIN4c.2084T>A (p.Phe695Tyr)
c.2051T>A (p.Phe684Tyr)
c.2096T>A (p.Phe699Tyr)
17g.745960A=CA2242474497GEMIN4c.2083T= (p.Phe695=)
c.2050T= (p.Phe684=)
c.2095T= (p.Phe699=)
17g.745960A>CCA397505732GEMIN4c.2083T>G (p.Phe695Val)
c.2050T>G (p.Phe684Val)
c.2095T>G (p.Phe699Val)
 gnomAD v4
17g.745960A>GCA8262489GEMIN4c.2083T>C (p.Phe695Leu)
c.2050T>C (p.Phe684Leu)
c.2095T>C (p.Phe699Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745960A>TCA397505733GEMIN4c.2083T>A (p.Phe695Ile)
c.2050T>A (p.Phe684Ile)
c.2095T>A (p.Phe699Ile)

Number of alleles fetched