Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.745892dupCA3000235887GEMIN4c.2151dup (p.Lys718GlufsTer8)
c.2118dup (p.Lys707GlufsTer8)
c.2163dup (p.Lys722GlufsTer8)
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.745893dupCA3000235888GEMIN4c.2150dup (p.Lys718GlufsTer8)
c.2117dup (p.Lys707GlufsTer8)
c.2162dup (p.Lys722GlufsTer8)
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.745897dupCA3000235889GEMIN4c.2147dup (p.Glu717GlyfsTer9)
c.2114dup (p.Glu706GlyfsTer9)
c.2159dup (p.Glu721GlyfsTer9)
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.745900dupCA3000235890GEMIN4c.2145dup (p.Lys716GlnfsTer10)
c.2112dup (p.Lys705GlnfsTer10)
c.2157dup (p.Lys720GlnfsTer10)
17g.745900delCA3000235891GEMIN4c.2145del (p.Lys716ArgfsTer13)
c.2112del (p.Lys705ArgfsTer13)
c.2157del (p.Lys720ArgfsTer13)
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_745900insATAGCA3000235892GEMIN4c.2144_2145insTATC (p.Lys716IlefsTer11)
c.2111_2112insTATC (p.Lys705IlefsTer11)
c.2156_2157insTATC (p.Lys720IlefsTer11)
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)

Number of alleles fetched