Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
17g.745961C>ACA497383870GEMIN4c.2082G>T (p.Pro694=)
c.2049G>T (p.Pro683=)
c.2094G>T (p.Pro698=)
17g.745961C=CA2242474498GEMIN4c.2082G= (p.Pro694=)
c.2049G= (p.Pro683=)
c.2094G= (p.Pro698=)
17g.745961C>GCA497383872GEMIN4c.2082G>C (p.Pro694=)
c.2049G>C (p.Pro683=)
c.2094G>C (p.Pro698=)
17g.745961C>TCA8262490GEMIN4c.2082G>A (p.Pro694=)
c.2049G>A (p.Pro683=)
c.2094G>A (p.Pro698=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745962G>ACA8262491GEMIN4c.2081C>T (p.Pro694Leu)
c.2048C>T (p.Pro683Leu)
c.2093C>T (p.Pro698Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745962G>CCA397505734GEMIN4c.2081C>G (p.Pro694Arg)
c.2048C>G (p.Pro683Arg)
c.2093C>G (p.Pro698Arg)
17g.745962G=CA2242474499GEMIN4c.2081C= (p.Pro694=)
c.2048C= (p.Pro683=)
c.2093C= (p.Pro698=)
17g.745962G>TCA397505735GEMIN4c.2081C>A (p.Pro694Gln)
c.2048C>A (p.Pro683Gln)
c.2093C>A (p.Pro698Gln)
17g.745965delCA2635153303GEMIN4c.2081del (p.Pro694ArgfsTer?)
c.2048del (p.Pro683ArgfsTer?)
c.2093del (p.Pro698ArgfsTer?)
 gnomAD v4
17g.745963G>ACA397505736GEMIN4c.2080C>T (p.Pro694Ser)
c.2047C>T (p.Pro683Ser)
c.2092C>T (p.Pro698Ser)
 dbSNP
17g.745963G>CCA397505738GEMIN4c.2080C>G (p.Pro694Ala)
c.2047C>G (p.Pro683Ala)
c.2092C>G (p.Pro698Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745963G=CA2242474500GEMIN4c.2080C= (p.Pro694=)
c.2047C= (p.Pro683=)
c.2092C= (p.Pro698=)
17g.745963G>TCA397505737GEMIN4c.2080C>A (p.Pro694Thr)
c.2047C>A (p.Pro683Thr)
c.2092C>A (p.Pro698Thr)
17g.745964G>ACA8262492GEMIN4c.2079C>T (p.Ser693=)
c.2046C>T (p.Ser682=)
c.2091C>T (p.Ser697=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745964G>CCA497383882GEMIN4c.2079C>G (p.Ser693=)
c.2046C>G (p.Ser682=)
c.2091C>G (p.Ser697=)
17g.745964G=CA2242474501GEMIN4c.2079C= (p.Ser693=)
c.2046C= (p.Ser682=)
c.2091C= (p.Ser697=)
17g.745964G>TCA497383881GEMIN4c.2079C>A (p.Ser693=)
c.2046C>A (p.Ser682=)
c.2091C>A (p.Ser697=)
17g.745965G>ACA397505739GEMIN4c.2078C>T (p.Ser693Phe)
c.2045C>T (p.Ser682Phe)
c.2090C>T (p.Ser697Phe)
 gnomAD v4
17g.745965G>CCA397505740GEMIN4c.2078C>G (p.Ser693Cys)
c.2045C>G (p.Ser682Cys)
c.2090C>G (p.Ser697Cys)
17g.745965G>TCA397505741GEMIN4c.2078C>A (p.Ser693Tyr)
c.2045C>A (p.Ser682Tyr)
c.2090C>A (p.Ser697Tyr)
 gnomAD v4
17g.745966A=CA2242474502GEMIN4c.2077T= (p.Ser693=)
c.2044T= (p.Ser682=)
c.2089T= (p.Ser697=)
17g.745966A>CCA397505742GEMIN4c.2077T>G (p.Ser693Ala)
c.2044T>G (p.Ser682Ala)
c.2089T>G (p.Ser697Ala)
17g.745966A>GCA397505743GEMIN4c.2077T>C (p.Ser693Pro)
c.2044T>C (p.Ser682Pro)
c.2089T>C (p.Ser697Pro)
17g.745966A>TCA8262493GEMIN4c.2077T>A (p.Ser693Thr)
c.2044T>A (p.Ser682Thr)
c.2089T>A (p.Ser697Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745967G>ACA497383888GEMIN4c.2076C>T (p.Cys692=)
c.2043C>T (p.Cys681=)
c.2088C>T (p.Cys696=)
 dbSNP gnomAD v3 gnomAD v4
17g.745967G>CCA397505744GEMIN4c.2076C>G (p.Cys692Trp)
c.2043C>G (p.Cys681Trp)
c.2088C>G (p.Cys696Trp)
17g.745967G=CA2242474503GEMIN4c.2076C= (p.Cys692=)
c.2043C= (p.Cys681=)
c.2088C= (p.Cys696=)
17g.745967G>TCA397505745GEMIN4c.2076C>A (p.Cys692Ter)
c.2043C>A (p.Cys681Ter)
c.2088C>A (p.Cys696Ter)
 gnomAD v4
17g.745968C>ACA397505746GEMIN4c.2075G>T (p.Cys692Phe)
c.2042G>T (p.Cys681Phe)
c.2087G>T (p.Cys696Phe)
17g.745968C>GCA397505747GEMIN4c.2075G>C (p.Cys692Ser)
c.2042G>C (p.Cys681Ser)
c.2087G>C (p.Cys696Ser)
17g.745968C>TCA397505748GEMIN4c.2075G>A (p.Cys692Tyr)
c.2042G>A (p.Cys681Tyr)
c.2087G>A (p.Cys696Tyr)
17g.745969A>CCA397505751GEMIN4c.2074T>G (p.Cys692Gly)
c.2041T>G (p.Cys681Gly)
c.2086T>G (p.Cys696Gly)
17g.745969A>GCA397505750GEMIN4c.2074T>C (p.Cys692Arg)
c.2041T>C (p.Cys681Arg)
c.2086T>C (p.Cys696Arg)
 COSMIC COSMIC
17g.745969A>TCA397505749GEMIN4c.2074T>A (p.Cys692Ser)
c.2041T>A (p.Cys681Ser)
c.2086T>A (p.Cys696Ser)
17g.745970G>ACA497383894GEMIN4c.2073C>T (p.Thr691=)
c.2040C>T (p.Thr680=)
c.2085C>T (p.Thr695=)
17g.745970G>CCA497383893GEMIN4c.2073C>G (p.Thr691=)
c.2040C>G (p.Thr680=)
c.2085C>G (p.Thr695=)
 gnomAD v4
17g.745970G>TCA497383892GEMIN4c.2073C>A (p.Thr691=)
c.2040C>A (p.Thr680=)
c.2085C>A (p.Thr695=)
17g.745971G>ACA397505752GEMIN4c.2072C>T (p.Thr691Ile)
c.2039C>T (p.Thr680Ile)
c.2084C>T (p.Thr695Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.745971G>CCA397505753GEMIN4c.2072C>G (p.Thr691Ser)
c.2039C>G (p.Thr680Ser)
c.2084C>G (p.Thr695Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745971G=CA2242474504GEMIN4c.2072C= (p.Thr691=)
c.2039C= (p.Thr680=)
c.2084C= (p.Thr695=)
17g.745971G>TCA397505754GEMIN4c.2072C>A (p.Thr691Asn)
c.2039C>A (p.Thr680Asn)
c.2084C>A (p.Thr695Asn)
17g.745972T>ACA397505755GEMIN4c.2071A>T (p.Thr691Ser)
c.2038A>T (p.Thr680Ser)
c.2083A>T (p.Thr695Ser)
17g.745972T>CCA397505756GEMIN4c.2071A>G (p.Thr691Ala)
c.2038A>G (p.Thr680Ala)
c.2083A>G (p.Thr695Ala)
17g.745972T>GCA397505757GEMIN4c.2071A>C (p.Thr691Pro)
c.2038A>C (p.Thr680Pro)
c.2083A>C (p.Thr695Pro)
 dbSNP
17g.745973C>ACA397505758GEMIN4c.2070G>T (p.Gln690His)
c.2037G>T (p.Gln679His)
c.2082G>T (p.Gln694His)
17g.745973C=CA2242474505GEMIN4c.2070G= (p.Gln690=)
c.2037G= (p.Gln679=)
c.2082G= (p.Gln694=)
17g.745973C>GCA397505759GEMIN4c.2070G>C (p.Gln690His)
c.2037G>C (p.Gln679His)
c.2082G>C (p.Gln694His)
17g.745973C>TCA8262494GEMIN4c.2070G>A (p.Gln690=)
c.2037G>A (p.Gln679=)
c.2082G>A (p.Gln694=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745974T>ACA397505760GEMIN4c.2069A>T (p.Gln690Leu)
c.2036A>T (p.Gln679Leu)
c.2081A>T (p.Gln694Leu)
17g.745974T>CCA397505761GEMIN4c.2069A>G (p.Gln690Arg)
c.2036A>G (p.Gln679Arg)
c.2081A>G (p.Gln694Arg)
17g.745974T>GCA397505762GEMIN4c.2069A>C (p.Gln690Pro)
c.2036A>C (p.Gln679Pro)
c.2081A>C (p.Gln694Pro)
17g.745975G>ACA8262495GEMIN4c.2068C>T (p.Gln690Ter)
c.2035C>T (p.Gln679Ter)
c.2080C>T (p.Gln694Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745975G>CCA397505764GEMIN4c.2068C>G (p.Gln690Glu)
c.2035C>G (p.Gln679Glu)
c.2080C>G (p.Gln694Glu)
17g.745975G=CA2242474506GEMIN4c.2068C= (p.Gln690=)
c.2035C= (p.Gln679=)
c.2080C= (p.Gln694=)
17g.745975G>TCA397505763GEMIN4c.2068C>A (p.Gln690Lys)
c.2035C>A (p.Gln679Lys)
c.2080C>A (p.Gln694Lys)
17g.745976G>ACA497383906GEMIN4c.2067C>T (p.Leu689=)
c.2034C>T (p.Leu678=)
c.2079C>T (p.Leu693=)
17g.745976G>CCA497383908GEMIN4c.2067C>G (p.Leu689=)
c.2034C>G (p.Leu678=)
c.2079C>G (p.Leu693=)
17g.745976G>TCA497383905GEMIN4c.2067C>A (p.Leu689=)
c.2034C>A (p.Leu678=)
c.2079C>A (p.Leu693=)
17g.745977A=CA2242474507GEMIN4c.2066T= (p.Leu689=)
c.2033T= (p.Leu678=)
c.2078T= (p.Leu693=)
17g.745977A>CCA397505765GEMIN4c.2066T>G (p.Leu689Arg)
c.2033T>G (p.Leu678Arg)
c.2078T>G (p.Leu693Arg)
17g.745977A>GCA397505767GEMIN4c.2066T>C (p.Leu689Pro)
c.2033T>C (p.Leu678Pro)
c.2078T>C (p.Leu693Pro)
 gnomAD v4
17g.745977A>TCA397505766GEMIN4c.2066T>A (p.Leu689His)
c.2033T>A (p.Leu678His)
c.2078T>A (p.Leu693His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.745978G>ACA8262496GEMIN4c.2065C>T (p.Leu689Phe)
c.2032C>T (p.Leu678Phe)
c.2077C>T (p.Leu693Phe)
 dbSNP ExAC gnomAD v2
17g.745978G>CCA397505769GEMIN4c.2065C>G (p.Leu689Val)
c.2032C>G (p.Leu678Val)
c.2077C>G (p.Leu693Val)
17g.745978G=CA2242474508GEMIN4c.2065C= (p.Leu689=)
c.2032C= (p.Leu678=)
c.2077C= (p.Leu693=)
17g.745978G>TCA397505768GEMIN4c.2065C>A (p.Leu689Ile)
c.2032C>A (p.Leu678Ile)
c.2077C>A (p.Leu693Ile)
17g.745979C>ACA397505770GEMIN4c.2064G>T (p.Trp688Cys)
c.2031G>T (p.Trp677Cys)
c.2076G>T (p.Trp692Cys)
17g.745979C>GCA397505771GEMIN4c.2064G>C (p.Trp688Cys)
c.2031G>C (p.Trp677Cys)
c.2076G>C (p.Trp692Cys)
17g.745979C>TCA397505772GEMIN4c.2064G>A (p.Trp688Ter)
c.2031G>A (p.Trp677Ter)
c.2076G>A (p.Trp692Ter)
17g.745980C>ACA397505773GEMIN4c.2063G>T (p.Trp688Leu)
c.2030G>T (p.Trp677Leu)
c.2075G>T (p.Trp692Leu)
17g.745980C=CA2242474509GEMIN4c.2063G= (p.Trp688=)
c.2030G= (p.Trp677=)
c.2075G= (p.Trp692=)
17g.745980C>GCA397505774GEMIN4c.2063G>C (p.Trp688Ser)
c.2030G>C (p.Trp677Ser)
c.2075G>C (p.Trp692Ser)
17g.745980C>TCA397505775GEMIN4c.2063G>A (p.Trp688Ter)
c.2030G>A (p.Trp677Ter)
c.2075G>A (p.Trp692Ter)
 dbSNP gnomAD v2
17g.745981A=CA2242474510GEMIN4c.2062T= (p.Trp688=)
c.2029T= (p.Trp677=)
c.2074T= (p.Trp692=)
17g.745981A>CCA397505776GEMIN4c.2062T>G (p.Trp688Gly)
c.2029T>G (p.Trp677Gly)
c.2074T>G (p.Trp692Gly)
 dbSNP
17g.745981A>GCA397505777GEMIN4c.2062T>C (p.Trp688Arg)
c.2029T>C (p.Trp677Arg)
c.2074T>C (p.Trp692Arg)
 dbSNP gnomAD v2
17g.745981A>TCA397505778GEMIN4c.2062T>A (p.Trp688Arg)
c.2029T>A (p.Trp677Arg)
c.2074T>A (p.Trp692Arg)
17g.745982G>ACA497383915GEMIN4c.2061C>T (p.Tyr687=)
c.2028C>T (p.Tyr676=)
c.2073C>T (p.Tyr691=)
 gnomAD v4 COSMIC COSMIC
17g.745982G>CCA397505779GEMIN4c.2061C>G (p.Tyr687Ter)
c.2028C>G (p.Tyr676Ter)
c.2073C>G (p.Tyr691Ter)
17g.745982G>TCA397505780GEMIN4c.2061C>A (p.Tyr687Ter)
c.2028C>A (p.Tyr676Ter)
c.2073C>A (p.Tyr691Ter)
17g.745983T>ACA397505783GEMIN4c.2060A>T (p.Tyr687Phe)
c.2027A>T (p.Tyr676Phe)
c.2072A>T (p.Tyr691Phe)
17g.745983T>CCA397505781GEMIN4c.2060A>G (p.Tyr687Cys)
c.2027A>G (p.Tyr676Cys)
c.2072A>G (p.Tyr691Cys)
17g.745983T>GCA397505782GEMIN4c.2060A>C (p.Tyr687Ser)
c.2027A>C (p.Tyr676Ser)
c.2072A>C (p.Tyr691Ser)
17g.745984A>CCA397505784GEMIN4c.2059T>G (p.Tyr687Asp)
c.2026T>G (p.Tyr676Asp)
c.2071T>G (p.Tyr691Asp)
17g.745984A>GCA397505785GEMIN4c.2059T>C (p.Tyr687His)
c.2026T>C (p.Tyr676His)
c.2071T>C (p.Tyr691His)
17g.745984A>TCA397505786GEMIN4c.2059T>A (p.Tyr687Asn)
c.2026T>A (p.Tyr676Asn)
c.2071T>A (p.Tyr691Asn)
17g.745985T>ACA397505787GEMIN4c.2058A>T (p.Glu686Asp)
c.2025A>T (p.Glu675Asp)
c.2070A>T (p.Glu690Asp)
17g.745985T>CCA497383918GEMIN4c.2058A>G (p.Glu686=)
c.2025A>G (p.Glu675=)
c.2070A>G (p.Glu690=)
 dbSNP
17g.745985T>GCA286713668GEMIN4c.2058A>C (p.Glu686Asp)
c.2025A>C (p.Glu675Asp)
c.2070A>C (p.Glu690Asp)
 dbSNP
17g.745985T=CA2242474511GEMIN4c.2058A= (p.Glu686=)
c.2025A= (p.Glu675=)
c.2070A= (p.Glu690=)
17g.745986T>ACA397505788GEMIN4c.2057A>T (p.Glu686Val)
c.2024A>T (p.Glu675Val)
c.2069A>T (p.Glu690Val)
17g.745986T>CCA397505789GEMIN4c.2057A>G (p.Glu686Gly)
c.2024A>G (p.Glu675Gly)
c.2069A>G (p.Glu690Gly)
17g.745986T>GCA397505790GEMIN4c.2057A>C (p.Glu686Ala)
c.2024A>C (p.Glu675Ala)
c.2069A>C (p.Glu690Ala)
17g.745987C>ACA397505791GEMIN4c.2056G>T (p.Glu686Ter)
c.2023G>T (p.Glu675Ter)
c.2068G>T (p.Glu690Ter)
17g.745987C=CA2242474512GEMIN4c.2056G= (p.Glu686=)
c.2023G= (p.Glu675=)
c.2068G= (p.Glu690=)
17g.745987C>GCA397505792GEMIN4c.2056G>C (p.Glu686Gln)
c.2023G>C (p.Glu675Gln)
c.2068G>C (p.Glu690Gln)
17g.745987C>TCA397505793GEMIN4c.2056G>A (p.Glu686Lys)
c.2023G>A (p.Glu675Lys)
c.2068G>A (p.Glu690Lys)
 dbSNP gnomAD v2 gnomAD v4
17g.745988C>ACA397505795GEMIN4c.2055G>T (p.Glu685Asp)
c.2022G>T (p.Glu674Asp)
c.2067G>T (p.Glu689Asp)
17g.745988C=CA2242474513GEMIN4c.2055G= (p.Glu685=)
c.2022G= (p.Glu674=)
c.2067G= (p.Glu689=)
17g.745988C>GCA397505794GEMIN4c.2055G>C (p.Glu685Asp)
c.2022G>C (p.Glu674Asp)
c.2067G>C (p.Glu689Asp)
17g.745988C>TCA497383921GEMIN4c.2055G>A (p.Glu685=)
c.2022G>A (p.Glu674=)
c.2067G>A (p.Glu689=)
 dbSNP
17g.745989T>ACA397505796GEMIN4c.2054A>T (p.Glu685Val)
c.2021A>T (p.Glu674Val)
c.2066A>T (p.Glu689Val)
 dbSNP
17g.745989T>CCA397505797GEMIN4c.2054A>G (p.Glu685Gly)
c.2021A>G (p.Glu674Gly)
c.2066A>G (p.Glu689Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.745989T>GCA397505798GEMIN4c.2054A>C (p.Glu685Ala)
c.2021A>C (p.Glu674Ala)
c.2066A>C (p.Glu689Ala)
17g.745989T=CA2242474514GEMIN4c.2054A= (p.Glu685=)
c.2021A= (p.Glu674=)
c.2066A= (p.Glu689=)
17g.745990C>ACA397505799GEMIN4c.2053G>T (p.Glu685Ter)
c.2020G>T (p.Glu674Ter)
c.2065G>T (p.Glu689Ter)
17g.745990C=CA2242474515GEMIN4c.2053G= (p.Glu685=)
c.2020G= (p.Glu674=)
c.2065G= (p.Glu689=)
17g.745990C>GCA397505800GEMIN4c.2053G>C (p.Glu685Gln)
c.2020G>C (p.Glu674Gln)
c.2065G>C (p.Glu689Gln)
17g.745990C>TCA397505801GEMIN4c.2053G>A (p.Glu685Lys)
c.2020G>A (p.Glu674Lys)
c.2065G>A (p.Glu689Lys)
 dbSNP gnomAD v3 gnomAD v4
17g.745991T>ACA497383924GEMIN4c.2052A>T (p.Arg684=)
c.2019A>T (p.Arg673=)
c.2064A>T (p.Arg688=)
17g.745991T>CCA497383925GEMIN4c.2052A>G (p.Arg684=)
c.2019A>G (p.Arg673=)
c.2064A>G (p.Arg688=)
17g.745991T>GCA497383926GEMIN4c.2052A>C (p.Arg684=)
c.2019A>C (p.Arg673=)
c.2064A>C (p.Arg688=)
17g.745992C>ACA397505802GEMIN4c.2051G>T (p.Arg684Leu)
c.2018G>T (p.Arg673Leu)
c.2063G>T (p.Arg688Leu)
 gnomAD v4
17g.745992C=CA2242474516GEMIN4c.2051G= (p.Arg684=)
c.2018G= (p.Arg673=)
c.2063G= (p.Arg688=)
17g.745992C>GCA397505803GEMIN4c.2051G>C (p.Arg684Pro)
c.2018G>C (p.Arg673Pro)
c.2063G>C (p.Arg688Pro)
17g.745992C>TCA8262497GEMIN4c.2051G>A (p.Arg684Gln)
c.2018G>A (p.Arg673Gln)
c.2063G>A (p.Arg688Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745993G>ACA8262498GEMIN4c.2050C>T (p.Arg684Ter)
c.2017C>T (p.Arg673Ter)
c.2062C>T (p.Arg688Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745993G>CCA397505804GEMIN4c.2050C>G (p.Arg684Gly)
c.2017C>G (p.Arg673Gly)
c.2062C>G (p.Arg688Gly)
17g.745993G=CA2242474517GEMIN4c.2050C= (p.Arg684=)
c.2017C= (p.Arg673=)
c.2062C= (p.Arg688=)
17g.745993G>TCA497383931GEMIN4c.2050C>A (p.Arg684=)
c.2017C>A (p.Arg673=)
c.2062C>A (p.Arg688=)
17g.745994G>ACA497383933GEMIN4c.2049C>T (p.Cys683=)
c.2016C>T (p.Cys672=)
c.2061C>T (p.Cys687=)
17g.745994G>CCA397505805GEMIN4c.2049C>G (p.Cys683Trp)
c.2016C>G (p.Cys672Trp)
c.2061C>G (p.Cys687Trp)
17g.745994G>TCA397505806GEMIN4c.2049C>A (p.Cys683Ter)
c.2016C>A (p.Cys672Ter)
c.2061C>A (p.Cys687Ter)
 gnomAD v4
17g.745995C>ACA397505809GEMIN4c.2048G>T (p.Cys683Phe)
c.2015G>T (p.Cys672Phe)
c.2060G>T (p.Cys687Phe)
17g.745995C>GCA397505807GEMIN4c.2048G>C (p.Cys683Ser)
c.2015G>C (p.Cys672Ser)
c.2060G>C (p.Cys687Ser)
17g.745995C>TCA397505808GEMIN4c.2048G>A (p.Cys683Tyr)
c.2015G>A (p.Cys672Tyr)
c.2060G>A (p.Cys687Tyr)
17g.745996A=CA2242474518GEMIN4c.2047T= (p.Cys683=)
c.2014T= (p.Cys672=)
c.2059T= (p.Cys687=)
17g.745996A>CCA397505810GEMIN4c.2047T>G (p.Cys683Gly)
c.2014T>G (p.Cys672Gly)
c.2059T>G (p.Cys687Gly)
17g.745996A>GCA286713669GEMIN4c.2047T>C (p.Cys683Arg)
c.2014T>C (p.Cys672Arg)
c.2059T>C (p.Cys687Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745996A>TCA397505811GEMIN4c.2047T>A (p.Cys683Ser)
c.2014T>A (p.Cys672Ser)
c.2059T>A (p.Cys687Ser)
17g.745997C>ACA497383938GEMIN4c.2046G>T (p.Ala682=)
c.2013G>T (p.Ala671=)
c.2058G>T (p.Ala686=)
17g.745997C=CA2242474519GEMIN4c.2046G= (p.Ala682=)
c.2013G= (p.Ala671=)
c.2058G= (p.Ala686=)
17g.745997C>GCA497383940GEMIN4c.2046G>C (p.Ala682=)
c.2013G>C (p.Ala671=)
c.2058G>C (p.Ala686=)
17g.745997C>TCA497383941GEMIN4c.2046G>A (p.Ala682=)
c.2013G>A (p.Ala671=)
c.2058G>A (p.Ala686=)
 dbSNP gnomAD v2 gnomAD v4
17g.745998G>ACA286713670GEMIN4c.2045C>T (p.Ala682Val)
c.2012C>T (p.Ala671Val)
c.2057C>T (p.Ala686Val)
 dbSNP gnomAD v2 gnomAD v4
17g.745998G>CCA397505812GEMIN4c.2045C>G (p.Ala682Gly)
c.2012C>G (p.Ala671Gly)
c.2057C>G (p.Ala686Gly)
 COSMIC COSMIC
17g.745998G=CA2242474520GEMIN4c.2045C= (p.Ala682=)
c.2012C= (p.Ala671=)
c.2057C= (p.Ala686=)
17g.745998G>TCA397505813GEMIN4c.2045C>A (p.Ala682Glu)
c.2012C>A (p.Ala671Glu)
c.2057C>A (p.Ala686Glu)
17g.745998dupCA2635153305GEMIN4c.2045dup (p.Cys683ValfsTer?)
c.2012dup (p.Cys672ValfsTer?)
c.2057dup (p.Cys687ValfsTer?)
 gnomAD v4
17g.745999C>ACA397505814GEMIN4c.2044G>T (p.Ala682Ser)
c.2011G>T (p.Ala671Ser)
c.2056G>T (p.Ala686Ser)
17g.745999C=CA2242474521GEMIN4c.2044G= (p.Ala682=)
c.2011G= (p.Ala671=)
c.2056G= (p.Ala686=)
17g.745999C>GCA397505815GEMIN4c.2044G>C (p.Ala682Pro)
c.2011G>C (p.Ala671Pro)
c.2056G>C (p.Ala686Pro)
17g.745999C>TCA8262499GEMIN4c.2044G>A (p.Ala682Thr)
c.2011G>A (p.Ala671Thr)
c.2056G>A (p.Ala686Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746000G>ACA8262500GEMIN4c.2043C>T (p.Asn681=)
c.2010C>T (p.Asn670=)
c.2055C>T (p.Asn685=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.746000G>CCA397505816GEMIN4c.2043C>G (p.Asn681Lys)
c.2010C>G (p.Asn670Lys)
c.2055C>G (p.Asn685Lys)
17g.746000G=CA2242474522GEMIN4c.2043C= (p.Asn681=)
c.2010C= (p.Asn670=)
c.2055C= (p.Asn685=)
17g.746000G>TCA397505817GEMIN4c.2043C>A (p.Asn681Lys)
c.2010C>A (p.Asn670Lys)
c.2055C>A (p.Asn685Lys)
17g.746001T>ACA397505820GEMIN4c.2042A>T (p.Asn681Ile)
c.2009A>T (p.Asn670Ile)
c.2054A>T (p.Asn685Ile)
17g.746001T>CCA397505819GEMIN4c.2042A>G (p.Asn681Ser)
c.2009A>G (p.Asn670Ser)
c.2054A>G (p.Asn685Ser)
17g.746001T>GCA397505818GEMIN4c.2042A>C (p.Asn681Thr)
c.2009A>C (p.Asn670Thr)
c.2054A>C (p.Asn685Thr)
17g.746002T>ACA8262501GEMIN4c.2041A>T (p.Asn681Tyr)
c.2008A>T (p.Asn670Tyr)
c.2053A>T (p.Asn685Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746002T>CCA397505822GEMIN4c.2041A>G (p.Asn681Asp)
c.2008A>G (p.Asn670Asp)
c.2053A>G (p.Asn685Asp)
 gnomAD v4
17g.746002T>GCA397505821GEMIN4c.2041A>C (p.Asn681His)
c.2008A>C (p.Asn670His)
c.2053A>C (p.Asn685His)
17g.746002T=CA2242474523GEMIN4c.2041A= (p.Asn681=)
c.2008A= (p.Asn670=)
c.2053A= (p.Asn685=)

Number of alleles fetched