Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.745892C>ACA397505495GEMIN4c.2151G>T (p.Glu717Asp)
c.2163G>T (p.Glu721Asp)
c.2118G>T (p.Glu706Asp)
17g.745892C>GCA397505497GEMIN4c.2151G>C (p.Glu717Asp)
c.2163G>C (p.Glu721Asp)
c.2118G>C (p.Glu706Asp)
17g.745892C>TCA497383664GEMIN4c.2151G>A (p.Glu717=)
c.2163G>A (p.Glu721=)
c.2118G>A (p.Glu706=)
17g.745893T>ACA397505503GEMIN4c.2150A>T (p.Glu717Val)
c.2162A>T (p.Glu721Val)
c.2117A>T (p.Glu706Val)
17g.745893T>CCA397505500GEMIN4c.2150A>G (p.Glu717Gly)
c.2162A>G (p.Glu721Gly)
c.2117A>G (p.Glu706Gly)
COSMIC COSMIC
17g.745893T>GCA397505501GEMIN4c.2150A>C (p.Glu717Ala)
c.2162A>C (p.Glu721Ala)
c.2117A>C (p.Glu706Ala)
17g.745894C>ACA397505506GEMIN4c.2149G>T (p.Glu717Ter)
c.2161G>T (p.Glu721Ter)
c.2116G>T (p.Glu706Ter)
17g.745894C>GCA397505507GEMIN4c.2149G>C (p.Glu717Gln)
c.2161G>C (p.Glu721Gln)
c.2116G>C (p.Glu706Gln)
17g.745894C>TCA397505508GEMIN4c.2149G>A (p.Glu717Lys)
c.2161G>A (p.Glu721Lys)
c.2116G>A (p.Glu706Lys)
17g.745895C>ACA397505511GEMIN4c.2148G>T (p.Lys716Asn)
c.2160G>T (p.Lys720Asn)
c.2115G>T (p.Lys705Asn)
17g.745895C>GCA397505512GEMIN4c.2148G>C (p.Lys716Asn)
c.2160G>C (p.Lys720Asn)
c.2115G>C (p.Lys705Asn)
17g.745895C>TCA8262472GEMIN4c.2148G>A (p.Lys716=)
c.2160G>A (p.Lys720=)
c.2115G>A (p.Lys705=)
dbSNP ExAC gnomAD
17g.745896T>ACA397505516GEMIN4c.2147A>T (p.Lys716Met)
c.2159A>T (p.Lys720Met)
c.2114A>T (p.Lys705Met)
17g.745896T>CCA397505518GEMIN4c.2147A>G (p.Lys716Arg)
c.2159A>G (p.Lys720Arg)
c.2114A>G (p.Lys705Arg)
17g.745896T>GCA397505519GEMIN4c.2147A>C (p.Lys716Thr)
c.2159A>C (p.Lys720Thr)
c.2114A>C (p.Lys705Thr)
17g.745896_745897dupCA774955099GEMIN4c.2146_2147dup (p.Glu717ArgfsTer13)
c.2158_2159dup (p.Glu721ArgfsTer13)
c.2113_2114dup (p.Glu706ArgfsTer13)
dbSNP
17g.745897T>ACA397505521GEMIN4c.2146A>T (p.Lys716Ter)
c.2158A>T (p.Lys720Ter)
c.2113A>T (p.Lys705Ter)
17g.745897T>CCA397505523GEMIN4c.2146A>G (p.Lys716Glu)
c.2158A>G (p.Lys720Glu)
c.2113A>G (p.Lys705Glu)
gnomAD
17g.745897T>GCA8262473GEMIN4c.2146A>C (p.Lys716Gln)
c.2158A>C (p.Lys720Gln)
c.2113A>C (p.Lys705Gln)
dbSNP ExAC gnomAD
17g.745898G>ACA497383668GEMIN4c.2145C>T (p.Pro715=)
c.2157C>T (p.Pro719=)
c.2112C>T (p.Pro704=)
17g.745898G>CCA497383670GEMIN4c.2145C>G (p.Pro715=)
c.2157C>G (p.Pro719=)
c.2112C>G (p.Pro704=)
17g.745898G>TCA497383669GEMIN4c.2145C>A (p.Pro715=)
c.2157C>A (p.Pro719=)
c.2112C>A (p.Pro704=)
17g.745899G>ACA397505528GEMIN4c.2144C>T (p.Pro715Leu)
c.2156C>T (p.Pro719Leu)
c.2111C>T (p.Pro704Leu)
17g.745899G>CCA397505529GEMIN4c.2144C>G (p.Pro715Arg)
c.2156C>G (p.Pro719Arg)
c.2111C>G (p.Pro704Arg)
17g.745899G>TCA397505527GEMIN4c.2144C>A (p.Pro715His)
c.2156C>A (p.Pro719His)
c.2111C>A (p.Pro704His)
17g.745899_745900insACTCCCA8262474GEMIN4c.2143_2144insGGAGT (p.Pro715ArgfsTer16)
c.2155_2156insGGAGT (p.Pro719ArgfsTer16)
c.2110_2111insGGAGT (p.Pro704ArgfsTer16)
dbSNP ExAC gnomAD
17g.745900G>ACA397505532GEMIN4c.2143C>T (p.Pro715Ser)
c.2155C>T (p.Pro719Ser)
c.2110C>T (p.Pro704Ser)
17g.745900G>CCA397505534GEMIN4c.2143C>G (p.Pro715Ala)
c.2155C>G (p.Pro719Ala)
c.2110C>G (p.Pro704Ala)
17g.745900G>TCA397505536GEMIN4c.2143C>A (p.Pro715Thr)
c.2155C>A (p.Pro719Thr)
c.2110C>A (p.Pro704Thr)
17g.745900_745901insTCTCAAAAAATAAAAATAAAATACA8262475GEMIN4c.2142_2143insTATTTTATTTTTATTTTTTGAGA (p.Pro715TyrfsTer7)
c.2154_2155insTATTTTATTTTTATTTTTTGAGA (p.Pro719TyrfsTer7)
c.2109_2110insTATTTTATTTTTATTTTTTGAGA (p.Pro704TyrfsTer7)
dbSNP ExAC
17g.745900_745901insTCTCAAAAAATAAAAATAAAATAAATCA624456765GEMIN4c.2142_2143insATTTATTTTATTTTTATTTTTTGAGA (p.Pro715IlefsTer8)
c.2154_2155insATTTATTTTATTTTTATTTTTTGAGA (p.Pro719IlefsTer8)
c.2109_2110insATTTATTTTATTTTTATTTTTTGAGA (p.Pro704IlefsTer8)
dbSNP gnomAD
17g.745901A>CCA497383675GEMIN4c.2142T>G (p.Leu714=)
c.2154T>G (p.Leu718=)
c.2109T>G (p.Leu703=)
17g.745901A>GCA286713666GEMIN4c.2142T>C (p.Leu714=)
c.2154T>C (p.Leu718=)
c.2109T>C (p.Leu703=)
dbSNP
17g.745901A>TCA497383676GEMIN4c.2142T>A (p.Leu714=)
c.2154T>A (p.Leu718=)
c.2109T>A (p.Leu703=)
17g.745902A>CCA397505540GEMIN4c.2141T>G (p.Leu714Arg)
c.2153T>G (p.Leu718Arg)
c.2108T>G (p.Leu703Arg)
17g.745902A>GCA397505542GEMIN4c.2141T>C (p.Leu714Pro)
c.2153T>C (p.Leu718Pro)
c.2108T>C (p.Leu703Pro)
17g.745902A>TCA397505544GEMIN4c.2141T>A (p.Leu714His)
c.2153T>A (p.Leu718His)
c.2108T>A (p.Leu703His)
17g.745903G>ACA8262477GEMIN4c.2140C>T (p.Leu714Phe)
c.2152C>T (p.Leu718Phe)
c.2107C>T (p.Leu703Phe)
dbSNP ExAC gnomAD
17g.745903G>CCA397505550GEMIN4c.2140C>G (p.Leu714Val)
c.2152C>G (p.Leu718Val)
c.2107C>G (p.Leu703Val)
17g.745903G>TCA8262476GEMIN4c.2140C>A (p.Leu714Ile)
c.2152C>A (p.Leu718Ile)
c.2107C>A (p.Leu703Ile)
dbSNP ExAC gnomAD
17g.745904C>ACA397505554GEMIN4c.2139G>T (p.Gln713His)
c.2151G>T (p.Gln717His)
c.2106G>T (p.Gln702His)
17g.745904C>GCA397505556GEMIN4c.2139G>C (p.Gln713His)
c.2151G>C (p.Gln717His)
c.2106G>C (p.Gln702His)
17g.745904C>TCA497383678GEMIN4c.2139G>A (p.Gln713=)
c.2151G>A (p.Gln717=)
c.2106G>A (p.Gln702=)
17g.745905T>ACA397505563GEMIN4c.2138A>T (p.Gln713Leu)
c.2150A>T (p.Gln717Leu)
c.2105A>T (p.Gln702Leu)
17g.745905T>CCA397505559GEMIN4c.2138A>G (p.Gln713Arg)
c.2150A>G (p.Gln717Arg)
c.2105A>G (p.Gln702Arg)
17g.745905T>GCA397505561GEMIN4c.2138A>C (p.Gln713Pro)
c.2150A>C (p.Gln717Pro)
c.2105A>C (p.Gln702Pro)
17g.745906G>ACA397505565GEMIN4c.2137C>T (p.Gln713Ter)
c.2149C>T (p.Gln717Ter)
c.2104C>T (p.Gln702Ter)
COSMIC COSMIC
17g.745906G>CCA397505567GEMIN4c.2137C>G (p.Gln713Glu)
c.2149C>G (p.Gln717Glu)
c.2104C>G (p.Gln702Glu)
17g.745906G>TCA397505569GEMIN4c.2137C>A (p.Gln713Lys)
c.2149C>A (p.Gln717Lys)
c.2104C>A (p.Gln702Lys)
17g.745907C>ACA397505571GEMIN4c.2136G>T (p.Trp712Cys)
c.2148G>T (p.Trp716Cys)
c.2103G>T (p.Trp701Cys)

Number of alleles fetched