Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)

Number of alleles fetched