Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.746064A>CCA397505954GEMIN4c.1979T>G (p.Leu660Trp)
c.1946T>G (p.Leu649Trp)
c.1991T>G (p.Leu664Trp)
 gnomAD v4 COSMIC COSMIC
17g.746064A>GCA397505955GEMIN4c.1979T>C (p.Leu660Ser)
c.1946T>C (p.Leu649Ser)
c.1991T>C (p.Leu664Ser)
17g.746064A>TCA397505956GEMIN4c.1979T>A (p.Leu660Ter)
c.1946T>A (p.Leu649Ter)
c.1991T>A (p.Leu664Ter)
17g.746065A>CCA397505957GEMIN4c.1978T>G (p.Leu660Val)
c.1945T>G (p.Leu649Val)
c.1990T>G (p.Leu664Val)
17g.746065A>GCA497384136GEMIN4c.1978T>C (p.Leu660=)
c.1945T>C (p.Leu649=)
c.1990T>C (p.Leu664=)
17g.746065A>TCA397505958GEMIN4c.1978T>A (p.Leu660Met)
c.1945T>A (p.Leu649Met)
c.1990T>A (p.Leu664Met)
17g.746066G>ACA497384137GEMIN4c.1977C>T (p.Phe659=)
c.1944C>T (p.Phe648=)
c.1989C>T (p.Phe663=)
17g.746066G>CCA397505959GEMIN4c.1977C>G (p.Phe659Leu)
c.1944C>G (p.Phe648Leu)
c.1989C>G (p.Phe663Leu)
17g.746066G>TCA397505960GEMIN4c.1977C>A (p.Phe659Leu)
c.1944C>A (p.Phe648Leu)
c.1989C>A (p.Phe663Leu)
17g.746066_746067delinsGACA2242474551GEMIN4c.1976_1977delinsTC (p.Phe659=)
c.1943_1944delinsTC (p.Phe648=)
c.1988_1989delinsTC (p.Phe663=)
17g.746067A>CCA397505961GEMIN4c.1976T>G (p.Phe659Cys)
c.1943T>G (p.Phe648Cys)
c.1988T>G (p.Phe663Cys)
17g.746067A>GCA397505962GEMIN4c.1976T>C (p.Phe659Ser)
c.1943T>C (p.Phe648Ser)
c.1988T>C (p.Phe663Ser)
17g.746067A>TCA397505963GEMIN4c.1976T>A (p.Phe659Tyr)
c.1943T>A (p.Phe648Tyr)
c.1988T>A (p.Phe663Tyr)
17g.746069delCA774955596GEMIN4c.1976del (p.Phe659SerfsTer2)
c.1943del (p.Phe648SerfsTer2)
c.1988del (p.Phe663SerfsTer2)
 dbSNP
17g.746068A>CCA397505964GEMIN4c.1975T>G (p.Phe659Val)
c.1942T>G (p.Phe648Val)
c.1987T>G (p.Phe663Val)
 gnomAD v4
17g.746068A>GCA397505966GEMIN4c.1975T>C (p.Phe659Leu)
c.1942T>C (p.Phe648Leu)
c.1987T>C (p.Phe663Leu)
17g.746068A>TCA397505965GEMIN4c.1975T>A (p.Phe659Ile)
c.1942T>A (p.Phe648Ile)
c.1987T>A (p.Phe663Ile)
17g.746069A>CCA497384142GEMIN4c.1974T>G (p.Pro658=)
c.1941T>G (p.Pro647=)
c.1986T>G (p.Pro662=)
17g.746069A>GCA497384143GEMIN4c.1974T>C (p.Pro658=)
c.1941T>C (p.Pro647=)
c.1986T>C (p.Pro662=)
17g.746069A>TCA497384144GEMIN4c.1974T>A (p.Pro658=)
c.1941T>A (p.Pro647=)
c.1986T>A (p.Pro662=)
17g.746070G>ACA286713674GEMIN4c.1973C>T (p.Pro658Leu)
c.1940C>T (p.Pro647Leu)
c.1985C>T (p.Pro662Leu)
 dbSNP gnomAD v3 gnomAD v4
17g.746070G>CCA397505967GEMIN4c.1973C>G (p.Pro658Arg)
c.1940C>G (p.Pro647Arg)
c.1985C>G (p.Pro662Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.746070G=CA2242474552GEMIN4c.1973C= (p.Pro658=)
c.1940C= (p.Pro647=)
c.1985C= (p.Pro662=)
17g.746070G>TCA397505968GEMIN4c.1973C>A (p.Pro658His)
c.1940C>A (p.Pro647His)
c.1985C>A (p.Pro662His)
17g.746071G>ACA397505969GEMIN4c.1972C>T (p.Pro658Ser)
c.1939C>T (p.Pro647Ser)
c.1984C>T (p.Pro662Ser)
17g.746071G>CCA397505970GEMIN4c.1972C>G (p.Pro658Ala)
c.1939C>G (p.Pro647Ala)
c.1984C>G (p.Pro662Ala)
 gnomAD v4
17g.746071G>TCA397505971GEMIN4c.1972C>A (p.Pro658Thr)
c.1939C>A (p.Pro647Thr)
c.1984C>A (p.Pro662Thr)
17g.746072C>ACA497384147GEMIN4c.1971G>T (p.Leu657=)
c.1938G>T (p.Leu646=)
c.1983G>T (p.Leu661=)
17g.746072C>GCA497384149GEMIN4c.1971G>C (p.Leu657=)
c.1938G>C (p.Leu646=)
c.1983G>C (p.Leu661=)
17g.746072C>TCA497384152GEMIN4c.1971G>A (p.Leu657=)
c.1938G>A (p.Leu646=)
c.1983G>A (p.Leu661=)
17g.746073A=CA2242474553GEMIN4c.1970T= (p.Leu657=)
c.1937T= (p.Leu646=)
c.1982T= (p.Leu661=)
17g.746073A>CCA397505972GEMIN4c.1970T>G (p.Leu657Arg)
c.1937T>G (p.Leu646Arg)
c.1982T>G (p.Leu661Arg)
17g.746073A>GCA397505973GEMIN4c.1970T>C (p.Leu657Pro)
c.1937T>C (p.Leu646Pro)
c.1982T>C (p.Leu661Pro)
 dbSNP
17g.746073A>TCA397505974GEMIN4c.1970T>A (p.Leu657Gln)
c.1937T>A (p.Leu646Gln)
c.1982T>A (p.Leu661Gln)
17g.746074G>ACA497384155GEMIN4c.1969C>T (p.Leu657=)
c.1936C>T (p.Leu646=)
c.1981C>T (p.Leu661=)
 dbSNP gnomAD v2 gnomAD v4
17g.746074G>CCA397505975GEMIN4c.1969C>G (p.Leu657Val)
c.1936C>G (p.Leu646Val)
c.1981C>G (p.Leu661Val)
17g.746074G=CA2242474554GEMIN4c.1969C= (p.Leu657=)
c.1936C= (p.Leu646=)
c.1981C= (p.Leu661=)
17g.746074G>TCA397505976GEMIN4c.1969C>A (p.Leu657Met)
c.1936C>A (p.Leu646Met)
c.1981C>A (p.Leu661Met)
17g.746075G>ACA497384157GEMIN4c.1968C>T (p.Val656=)
c.1935C>T (p.Val645=)
c.1980C>T (p.Val660=)
17g.746075G>CCA497384159GEMIN4c.1968C>G (p.Val656=)
c.1935C>G (p.Val645=)
c.1980C>G (p.Val660=)
17g.746075G>TCA497384162GEMIN4c.1968C>A (p.Val656=)
c.1935C>A (p.Val645=)
c.1980C>A (p.Val660=)
17g.746076A>CCA397505979GEMIN4c.1967T>G (p.Val656Gly)
c.1934T>G (p.Val645Gly)
c.1979T>G (p.Val660Gly)
17g.746076A>GCA397505978GEMIN4c.1967T>C (p.Val656Ala)
c.1934T>C (p.Val645Ala)
c.1979T>C (p.Val660Ala)
17g.746076A>TCA397505977GEMIN4c.1967T>A (p.Val656Asp)
c.1934T>A (p.Val645Asp)
c.1979T>A (p.Val660Asp)
17g.746077C>ACA8262513GEMIN4c.1966G>T (p.Val656Phe)
c.1933G>T (p.Val645Phe)
c.1978G>T (p.Val660Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746077C=CA2242474555GEMIN4c.1966G= (p.Val656=)
c.1933G= (p.Val645=)
c.1978G= (p.Val660=)
17g.746077C>GCA397505980GEMIN4c.1966G>C (p.Val656Leu)
c.1933G>C (p.Val645Leu)
c.1978G>C (p.Val660Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.746077C>TCA397505981GEMIN4c.1966G>A (p.Val656Ile)
c.1933G>A (p.Val645Ile)
c.1978G>A (p.Val660Ile)
 gnomAD v4
17g.746078A>CCA397505982GEMIN4c.1965T>G (p.Phe655Leu)
c.1932T>G (p.Phe644Leu)
c.1977T>G (p.Phe659Leu)
17g.746078A>GCA497383739GEMIN4c.1965T>C (p.Phe655=)
c.1932T>C (p.Phe644=)
c.1977T>C (p.Phe659=)
17g.746078A>TCA397505983GEMIN4c.1965T>A (p.Phe655Leu)
c.1932T>A (p.Phe644Leu)
c.1977T>A (p.Phe659Leu)
17g.746079A=CA2242474556GEMIN4c.1964T= (p.Phe655=)
c.1931T= (p.Phe644=)
c.1976T= (p.Phe659=)
17g.746079A>CCA8262514GEMIN4c.1964T>G (p.Phe655Cys)
c.1931T>G (p.Phe644Cys)
c.1976T>G (p.Phe659Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746079A>GCA397505984GEMIN4c.1964T>C (p.Phe655Ser)
c.1931T>C (p.Phe644Ser)
c.1976T>C (p.Phe659Ser)
17g.746079A>TCA397505985GEMIN4c.1964T>A (p.Phe655Tyr)
c.1931T>A (p.Phe644Tyr)
c.1976T>A (p.Phe659Tyr)
17g.746080A>CCA397505986GEMIN4c.1963T>G (p.Phe655Val)
c.1930T>G (p.Phe644Val)
c.1975T>G (p.Phe659Val)
 gnomAD v4
17g.746080A>GCA397505987GEMIN4c.1963T>C (p.Phe655Leu)
c.1930T>C (p.Phe644Leu)
c.1975T>C (p.Phe659Leu)
17g.746080A>TCA397505988GEMIN4c.1963T>A (p.Phe655Ile)
c.1930T>A (p.Phe644Ile)
c.1975T>A (p.Phe659Ile)
17g.746081T>ACA397505989GEMIN4c.1962A>T (p.Glu654Asp)
c.1929A>T (p.Glu643Asp)
c.1974A>T (p.Glu658Asp)
17g.746081T>CCA497383742GEMIN4c.1962A>G (p.Glu654=)
c.1929A>G (p.Glu643=)
c.1974A>G (p.Glu658=)
17g.746081T>GCA397505990GEMIN4c.1962A>C (p.Glu654Asp)
c.1929A>C (p.Glu643Asp)
c.1974A>C (p.Glu658Asp)
17g.746084_746087dupCA2635153312GEMIN4c.1959_1962dup (p.Phe655GlyfsTer12)
c.1926_1929dup (p.Phe644GlyfsTer12)
c.1971_1974dup (p.Phe659GlyfsTer12)
 gnomAD v4
17g.746082T>ACA397505993GEMIN4c.1961A>T (p.Glu654Val)
c.1928A>T (p.Glu643Val)
c.1973A>T (p.Glu658Val)
17g.746082T>CCA397505992GEMIN4c.1961A>G (p.Glu654Gly)
c.1928A>G (p.Glu643Gly)
c.1973A>G (p.Glu658Gly)
17g.746082T>GCA397505991GEMIN4c.1961A>C (p.Glu654Ala)
c.1928A>C (p.Glu643Ala)
c.1973A>C (p.Glu658Ala)
17g.746083C>ACA397505995GEMIN4c.1960G>T (p.Glu654Ter)
c.1927G>T (p.Glu643Ter)
c.1972G>T (p.Glu658Ter)
17g.746083C>GCA397505994GEMIN4c.1960G>C (p.Glu654Gln)
c.1927G>C (p.Glu643Gln)
c.1972G>C (p.Glu658Gln)
17g.746083C>TCA397505996GEMIN4c.1960G>A (p.Glu654Lys)
c.1927G>A (p.Glu643Lys)
c.1972G>A (p.Glu658Lys)
 gnomAD v4
17g.746084C>ACA397505997GEMIN4c.1959G>T (p.Lys653Asn)
c.1926G>T (p.Lys642Asn)
c.1971G>T (p.Lys657Asn)
17g.746084C=CA2242474557GEMIN4c.1959G= (p.Lys653=)
c.1926G= (p.Lys642=)
c.1971G= (p.Lys657=)
17g.746084C>GCA397505998GEMIN4c.1959G>C (p.Lys653Asn)
c.1926G>C (p.Lys642Asn)
c.1971G>C (p.Lys657Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.746084C>TCA497383746GEMIN4c.1959G>A (p.Lys653=)
c.1926G>A (p.Lys642=)
c.1971G>A (p.Lys657=)
 dbSNP gnomAD v4
17g.746085T>ACA397505999GEMIN4c.1958A>T (p.Lys653Met)
c.1925A>T (p.Lys642Met)
c.1970A>T (p.Lys657Met)
17g.746085T>CCA397506000GEMIN4c.1958A>G (p.Lys653Arg)
c.1925A>G (p.Lys642Arg)
c.1970A>G (p.Lys657Arg)
17g.746085T>GCA397506001GEMIN4c.1958A>C (p.Lys653Thr)
c.1925A>C (p.Lys642Thr)
c.1970A>C (p.Lys657Thr)
17g.746086T>ACA397506002GEMIN4c.1957A>T (p.Lys653Ter)
c.1924A>T (p.Lys642Ter)
c.1969A>T (p.Lys657Ter)
 COSMIC COSMIC
17g.746086T>CCA397506003GEMIN4c.1957A>G (p.Lys653Glu)
c.1924A>G (p.Lys642Glu)
c.1969A>G (p.Lys657Glu)
17g.746086T>GCA397506004GEMIN4c.1957A>C (p.Lys653Gln)
c.1924A>C (p.Lys642Gln)
c.1969A>C (p.Lys657Gln)
17g.746087C>ACA497383750GEMIN4c.1956G>T (p.Leu652=)
c.1923G>T (p.Leu641=)
c.1968G>T (p.Leu656=)
17g.746087C>GCA497383751GEMIN4c.1956G>C (p.Leu652=)
c.1923G>C (p.Leu641=)
c.1968G>C (p.Leu656=)
17g.746087C>TCA497383752GEMIN4c.1956G>A (p.Leu652=)
c.1923G>A (p.Leu641=)
c.1968G>A (p.Leu656=)
17g.746088A>CCA397506005GEMIN4c.1955T>G (p.Leu652Arg)
c.1922T>G (p.Leu641Arg)
c.1967T>G (p.Leu656Arg)
17g.746088A>GCA397506006GEMIN4c.1955T>C (p.Leu652Pro)
c.1922T>C (p.Leu641Pro)
c.1967T>C (p.Leu656Pro)
17g.746088A>TCA397506007GEMIN4c.1955T>A (p.Leu652Gln)
c.1922T>A (p.Leu641Gln)
c.1967T>A (p.Leu656Gln)
17g.746089G>ACA497383755GEMIN4c.1954C>T (p.Leu652=)
c.1921C>T (p.Leu641=)
c.1966C>T (p.Leu656=)
 gnomAD v4
17g.746089G>CCA397506008GEMIN4c.1954C>G (p.Leu652Val)
c.1921C>G (p.Leu641Val)
c.1966C>G (p.Leu656Val)
17g.746089G>TCA397506009GEMIN4c.1954C>A (p.Leu652Met)
c.1921C>A (p.Leu641Met)
c.1966C>A (p.Leu656Met)
17g.746090C>ACA497383758GEMIN4c.1953G>T (p.Val651=)
c.1920G>T (p.Val640=)
c.1965G>T (p.Val655=)
17g.746090C=CA2242474558GEMIN4c.1953G= (p.Val651=)
c.1920G= (p.Val640=)
c.1965G= (p.Val655=)
17g.746090C>GCA497383759GEMIN4c.1953G>C (p.Val651=)
c.1920G>C (p.Val640=)
c.1965G>C (p.Val655=)
 dbSNP gnomAD v3 gnomAD v4
17g.746090C>TCA497383760GEMIN4c.1953G>A (p.Val651=)
c.1920G>A (p.Val640=)
c.1965G>A (p.Val655=)
17g.746091A=CA2242474559GEMIN4c.1952T= (p.Val651=)
c.1919T= (p.Val640=)
c.1964T= (p.Val655=)
17g.746091A>CCA397506010GEMIN4c.1952T>G (p.Val651Gly)
c.1919T>G (p.Val640Gly)
c.1964T>G (p.Val655Gly)
 dbSNP
17g.746091A>GCA397506012GEMIN4c.1952T>C (p.Val651Ala)
c.1919T>C (p.Val640Ala)
c.1964T>C (p.Val655Ala)
17g.746091A>TCA397506011GEMIN4c.1952T>A (p.Val651Glu)
c.1919T>A (p.Val640Glu)
c.1964T>A (p.Val655Glu)
17g.746092C>ACA397506013GEMIN4c.1951G>T (p.Val651Leu)
c.1918G>T (p.Val640Leu)
c.1963G>T (p.Val655Leu)
 gnomAD v4
17g.746092C=CA2242474560GEMIN4c.1951G= (p.Val651=)
c.1918G= (p.Val640=)
c.1963G= (p.Val655=)
17g.746092C>GCA397506014GEMIN4c.1951G>C (p.Val651Leu)
c.1918G>C (p.Val640Leu)
c.1963G>C (p.Val655Leu)
17g.746092C>TCA397506015GEMIN4c.1951G>A (p.Val651Met)
c.1918G>A (p.Val640Met)
c.1963G>A (p.Val655Met)
 dbSNP gnomAD v4
17g.746093C>ACA397506016GEMIN4c.1950G>T (p.Glu650Asp)
c.1917G>T (p.Glu639Asp)
c.1962G>T (p.Glu654Asp)
17g.746093C>GCA397506017GEMIN4c.1950G>C (p.Glu650Asp)
c.1917G>C (p.Glu639Asp)
c.1962G>C (p.Glu654Asp)
17g.746093C>TCA497383765GEMIN4c.1950G>A (p.Glu650=)
c.1917G>A (p.Glu639=)
c.1962G>A (p.Glu654=)
17g.746094T>ACA397506018GEMIN4c.1949A>T (p.Glu650Val)
c.1916A>T (p.Glu639Val)
c.1961A>T (p.Glu654Val)
17g.746094T>CCA397506019GEMIN4c.1949A>G (p.Glu650Gly)
c.1916A>G (p.Glu639Gly)
c.1961A>G (p.Glu654Gly)
17g.746094T>GCA397506020GEMIN4c.1949A>C (p.Glu650Ala)
c.1916A>C (p.Glu639Ala)
c.1961A>C (p.Glu654Ala)
17g.746095C>ACA397506021GEMIN4c.1948G>T (p.Glu650Ter)
c.1915G>T (p.Glu639Ter)
c.1960G>T (p.Glu654Ter)
17g.746095C=CA2242474561GEMIN4c.1948G= (p.Glu650=)
c.1915G= (p.Glu639=)
c.1960G= (p.Glu654=)
17g.746095C>GCA397506022GEMIN4c.1948G>C (p.Glu650Gln)
c.1915G>C (p.Glu639Gln)
c.1960G>C (p.Glu654Gln)
17g.746095C>TCA8262515GEMIN4c.1948G>A (p.Glu650Lys)
c.1915G>A (p.Glu639Lys)
c.1960G>A (p.Glu654Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746096G>ACA8262516GEMIN4c.1947C>T (p.Asp649=)
c.1914C>T (p.Asp638=)
c.1959C>T (p.Asp653=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.746096G>CCA8262517GEMIN4c.1947C>G (p.Asp649Glu)
c.1914C>G (p.Asp638Glu)
c.1959C>G (p.Asp653Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746096G=CA2242474562GEMIN4c.1947C= (p.Asp649=)
c.1914C= (p.Asp638=)
c.1959C= (p.Asp653=)
17g.746096G>TCA397506023GEMIN4c.1947C>A (p.Asp649Glu)
c.1914C>A (p.Asp638Glu)
c.1959C>A (p.Asp653Glu)
 gnomAD v4
17g.746097T>ACA397506026GEMIN4c.1946A>T (p.Asp649Val)
c.1913A>T (p.Asp638Val)
c.1958A>T (p.Asp653Val)
17g.746097T>CCA397506024GEMIN4c.1946A>G (p.Asp649Gly)
c.1913A>G (p.Asp638Gly)
c.1958A>G (p.Asp653Gly)
17g.746097T>GCA397506025GEMIN4c.1946A>C (p.Asp649Ala)
c.1913A>C (p.Asp638Ala)
c.1958A>C (p.Asp653Ala)
17g.746098C>ACA397506027GEMIN4c.1945G>T (p.Asp649Tyr)
c.1912G>T (p.Asp638Tyr)
c.1957G>T (p.Asp653Tyr)
17g.746098C>GCA397506028GEMIN4c.1945G>C (p.Asp649His)
c.1912G>C (p.Asp638His)
c.1957G>C (p.Asp653His)
17g.746098C>TCA397506029GEMIN4c.1945G>A (p.Asp649Asn)
c.1912G>A (p.Asp638Asn)
c.1957G>A (p.Asp653Asn)
17g.746099T>ACA497383771GEMIN4c.1944A>T (p.Pro648=)
c.1911A>T (p.Pro637=)
c.1956A>T (p.Pro652=)
17g.746099T>CCA497383772GEMIN4c.1944A>G (p.Pro648=)
c.1911A>G (p.Pro637=)
c.1956A>G (p.Pro652=)
 COSMIC COSMIC
17g.746099T>GCA497383773GEMIN4c.1944A>C (p.Pro648=)
c.1911A>C (p.Pro637=)
c.1956A>C (p.Pro652=)
17g.746100G>ACA397506030GEMIN4c.1943C>T (p.Pro648Leu)
c.1910C>T (p.Pro637Leu)
c.1955C>T (p.Pro652Leu)
 dbSNP gnomAD v4
17g.746100G>CCA397506031GEMIN4c.1943C>G (p.Pro648Arg)
c.1910C>G (p.Pro637Arg)
c.1955C>G (p.Pro652Arg)
17g.746100G=CA2242474563GEMIN4c.1943C= (p.Pro648=)
c.1910C= (p.Pro637=)
c.1955C= (p.Pro652=)
17g.746100G>TCA397506032GEMIN4c.1943C>A (p.Pro648Gln)
c.1910C>A (p.Pro637Gln)
c.1955C>A (p.Pro652Gln)
17g.746101G>ACA397506033GEMIN4c.1942C>T (p.Pro648Ser)
c.1909C>T (p.Pro637Ser)
c.1954C>T (p.Pro652Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746101G>CCA397506034GEMIN4c.1942C>G (p.Pro648Ala)
c.1909C>G (p.Pro637Ala)
c.1954C>G (p.Pro652Ala)
17g.746101G=CA2242474564GEMIN4c.1942C= (p.Pro648=)
c.1909C= (p.Pro637=)
c.1954C= (p.Pro652=)
17g.746101G>TCA397506035GEMIN4c.1942C>A (p.Pro648Thr)
c.1909C>A (p.Pro637Thr)
c.1954C>A (p.Pro652Thr)
17g.746102C>ACA397506036GEMIN4c.1941G>T (p.Glu647Asp)
c.1908G>T (p.Glu636Asp)
c.1953G>T (p.Glu651Asp)
17g.746102C=CA2242474565GEMIN4c.1941G= (p.Glu647=)
c.1908G= (p.Glu636=)
c.1953G= (p.Glu651=)
17g.746102C>GCA397506037GEMIN4c.1941G>C (p.Glu647Asp)
c.1908G>C (p.Glu636Asp)
c.1953G>C (p.Glu651Asp)
17g.746102C>TCA497383775GEMIN4c.1941G>A (p.Glu647=)
c.1908G>A (p.Glu636=)
c.1953G>A (p.Glu651=)
 dbSNP gnomAD v2 gnomAD v4
17g.746103T>ACA397506039GEMIN4c.1940A>T (p.Glu647Val)
c.1907A>T (p.Glu636Val)
c.1952A>T (p.Glu651Val)
17g.746103T>CCA8262518GEMIN4c.1940A>G (p.Glu647Gly)
c.1907A>G (p.Glu636Gly)
c.1952A>G (p.Glu651Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746103T>GCA397506038GEMIN4c.1940A>C (p.Glu647Ala)
c.1907A>C (p.Glu636Ala)
c.1952A>C (p.Glu651Ala)
17g.746103T=CA2242474566GEMIN4c.1940A= (p.Glu647=)
c.1907A= (p.Glu636=)
c.1952A= (p.Glu651=)
17g.746104C>ACA397506040GEMIN4c.1939G>T (p.Glu647Ter)
c.1906G>T (p.Glu636Ter)
c.1951G>T (p.Glu651Ter)
 dbSNP
17g.746104C=CA2242474568GEMIN4c.1939G= (p.Glu647=)
c.1906G= (p.Glu636=)
c.1951G= (p.Glu651=)
17g.746104C>GCA397506041GEMIN4c.1939G>C (p.Glu647Gln)
c.1906G>C (p.Glu636Gln)
c.1951G>C (p.Glu651Gln)
 COSMIC COSMIC
17g.746104C>TCA397506042GEMIN4c.1939G>A (p.Glu647Lys)
c.1906G>A (p.Glu636Lys)
c.1951G>A (p.Glu651Lys)
17g.746104_746107delinsCAAGCA2242474567GEMIN4c.1936_1939delinsCTTG (p.Leu646=)
c.1903_1906delinsCTTG (p.Leu635=)
c.1948_1951delinsCTTG (p.Leu650=)
17g.746105A>CCA497383779GEMIN4c.1938T>G (p.Leu646=)
c.1905T>G (p.Leu635=)
c.1950T>G (p.Leu650=)
 gnomAD v4
17g.746105A>GCA497383780GEMIN4c.1938T>C (p.Leu646=)
c.1905T>C (p.Leu635=)
c.1950T>C (p.Leu650=)
17g.746105A>TCA497383781GEMIN4c.1938T>A (p.Leu646=)
c.1905T>A (p.Leu635=)
c.1950T>A (p.Leu650=)
17g.746109_746111delCA8262519GEMIN4c.1936_1938del (p.Leu646del)
c.1903_1905del (p.Leu635del)
c.1948_1950del (p.Leu650del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746106A>CCA397506043GEMIN4c.1937T>G (p.Leu646Arg)
c.1904T>G (p.Leu635Arg)
c.1949T>G (p.Leu650Arg)
17g.746106A>GCA397506044GEMIN4c.1937T>C (p.Leu646Pro)
c.1904T>C (p.Leu635Pro)
c.1949T>C (p.Leu650Pro)
17g.746106A>TCA397506045GEMIN4c.1937T>A (p.Leu646His)
c.1904T>A (p.Leu635His)
c.1949T>A (p.Leu650His)
17g.746107G>ACA397506046GEMIN4c.1936C>T (p.Leu646Phe)
c.1903C>T (p.Leu635Phe)
c.1948C>T (p.Leu650Phe)
 gnomAD v4
17g.746107G>CCA397506047GEMIN4c.1936C>G (p.Leu646Val)
c.1903C>G (p.Leu635Val)
c.1948C>G (p.Leu650Val)
17g.746107G>TCA397506048GEMIN4c.1936C>A (p.Leu646Ile)
c.1903C>A (p.Leu635Ile)
c.1948C>A (p.Leu650Ile)
17g.746108A>CCA497383787GEMIN4c.1935T>G (p.Leu645=)
c.1902T>G (p.Leu634=)
c.1947T>G (p.Leu649=)
17g.746108A>GCA497383785GEMIN4c.1935T>C (p.Leu645=)
c.1902T>C (p.Leu634=)
c.1947T>C (p.Leu649=)
17g.746108A>TCA497383786GEMIN4c.1935T>A (p.Leu645=)
c.1902T>A (p.Leu634=)
c.1947T>A (p.Leu649=)
17g.746109A>CCA397506049GEMIN4c.1934T>G (p.Leu645Arg)
c.1901T>G (p.Leu634Arg)
c.1946T>G (p.Leu649Arg)
17g.746109A>GCA397506050GEMIN4c.1934T>C (p.Leu645Pro)
c.1901T>C (p.Leu634Pro)
c.1946T>C (p.Leu649Pro)
17g.746109A>TCA397506051GEMIN4c.1934T>A (p.Leu645His)
c.1901T>A (p.Leu634His)
c.1946T>A (p.Leu649His)
17g.746110G>ACA286713675GEMIN4c.1933C>T (p.Leu645Phe)
c.1900C>T (p.Leu634Phe)
c.1945C>T (p.Leu649Phe)
 dbSNP gnomAD v2 gnomAD v4
17g.746110G>CCA397506053GEMIN4c.1933C>G (p.Leu645Val)
c.1900C>G (p.Leu634Val)
c.1945C>G (p.Leu649Val)
17g.746110G=CA2242474569GEMIN4c.1933C= (p.Leu645=)
c.1900C= (p.Leu634=)
c.1945C= (p.Leu649=)
17g.746110G>TCA397506052GEMIN4c.1933C>A (p.Leu645Ile)
c.1900C>A (p.Leu634Ile)
c.1945C>A (p.Leu649Ile)
17g.746111A>CCA497383791GEMIN4c.1932T>G (p.Ala644=)
c.1899T>G (p.Ala633=)
c.1944T>G (p.Ala648=)
17g.746111A>GCA497383792GEMIN4c.1932T>C (p.Ala644=)
c.1899T>C (p.Ala633=)
c.1944T>C (p.Ala648=)
 gnomAD v4
17g.746111A>TCA497383793GEMIN4c.1932T>A (p.Ala644=)
c.1899T>A (p.Ala633=)
c.1944T>A (p.Ala648=)
17g.746112G>ACA397506054GEMIN4c.1931C>T (p.Ala644Val)
c.1898C>T (p.Ala633Val)
c.1943C>T (p.Ala648Val)
 dbSNP gnomAD v3 gnomAD v4
17g.746112G>CCA8262520GEMIN4c.1931C>G (p.Ala644Gly)
c.1898C>G (p.Ala633Gly)
c.1943C>G (p.Ala648Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746112G=CA2242474570GEMIN4c.1931C= (p.Ala644=)
c.1898C= (p.Ala633=)
c.1943C= (p.Ala648=)
17g.746112G>TCA397506055GEMIN4c.1931C>A (p.Ala644Asp)
c.1898C>A (p.Ala633Asp)
c.1943C>A (p.Ala648Asp)
17g.746113C>ACA397506056GEMIN4c.1930G>T (p.Ala644Ser)
c.1897G>T (p.Ala633Ser)
c.1942G>T (p.Ala648Ser)
17g.746113C>GCA397506057GEMIN4c.1930G>C (p.Ala644Pro)
c.1897G>C (p.Ala633Pro)
c.1942G>C (p.Ala648Pro)
17g.746113C>TCA397506058GEMIN4c.1930G>A (p.Ala644Thr)
c.1897G>A (p.Ala633Thr)
c.1942G>A (p.Ala648Thr)
17g.746114A>CCA497383798GEMIN4c.1929T>G (p.Ala643=)
c.1896T>G (p.Ala632=)
c.1941T>G (p.Ala647=)
17g.746114A>GCA497383799GEMIN4c.1929T>C (p.Ala643=)
c.1896T>C (p.Ala632=)
c.1941T>C (p.Ala647=)
17g.746114A>TCA497383800GEMIN4c.1929T>A (p.Ala643=)
c.1896T>A (p.Ala632=)
c.1941T>A (p.Ala647=)
17g.746115G>ACA397506059GEMIN4c.1928C>T (p.Ala643Val)
c.1895C>T (p.Ala632Val)
c.1940C>T (p.Ala647Val)
17g.746115G>CCA397506060GEMIN4c.1928C>G (p.Ala643Gly)
c.1895C>G (p.Ala632Gly)
c.1940C>G (p.Ala647Gly)
17g.746115G>TCA397506061GEMIN4c.1928C>A (p.Ala643Asp)
c.1895C>A (p.Ala632Asp)
c.1940C>A (p.Ala647Asp)
17g.746116C>ACA397506062GEMIN4c.1927G>T (p.Ala643Ser)
c.1894G>T (p.Ala632Ser)
c.1939G>T (p.Ala647Ser)
17g.746116C>GCA397506063GEMIN4c.1927G>C (p.Ala643Pro)
c.1894G>C (p.Ala632Pro)
c.1939G>C (p.Ala647Pro)
17g.746116C>TCA397506064GEMIN4c.1927G>A (p.Ala643Thr)
c.1894G>A (p.Ala632Thr)
c.1939G>A (p.Ala647Thr)
 gnomAD v4
17g.746117C>ACA497383802GEMIN4c.1926G>T (p.Val642=)
c.1893G>T (p.Val631=)
c.1938G>T (p.Val646=)
17g.746117C>GCA497383803GEMIN4c.1926G>C (p.Val642=)
c.1893G>C (p.Val631=)
c.1938G>C (p.Val646=)
 gnomAD v4
17g.746117C>TCA497383804GEMIN4c.1926G>A (p.Val642=)
c.1893G>A (p.Val631=)
c.1938G>A (p.Val646=)
 COSMIC COSMIC
17g.746118A=CA2242474571GEMIN4c.1925T= (p.Val642=)
c.1892T= (p.Val631=)
c.1937T= (p.Val646=)
17g.746118A>CCA397506065GEMIN4c.1925T>G (p.Val642Gly)
c.1892T>G (p.Val631Gly)
c.1937T>G (p.Val646Gly)
17g.746118A>GCA397506066GEMIN4c.1925T>C (p.Val642Ala)
c.1892T>C (p.Val631Ala)
c.1937T>C (p.Val646Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746118A>TCA397506067GEMIN4c.1925T>A (p.Val642Glu)
c.1892T>A (p.Val631Glu)
c.1937T>A (p.Val646Glu)
17g.746119C>ACA397506068GEMIN4c.1924G>T (p.Val642Leu)
c.1891G>T (p.Val631Leu)
c.1936G>T (p.Val646Leu)
17g.746119C>GCA397506070GEMIN4c.1924G>C (p.Val642Leu)
c.1891G>C (p.Val631Leu)
c.1936G>C (p.Val646Leu)
17g.746119C>TCA397506069GEMIN4c.1924G>A (p.Val642Met)
c.1891G>A (p.Val631Met)
c.1936G>A (p.Val646Met)
 gnomAD v4
17g.746120T>ACA497383808GEMIN4c.1923A>T (p.Pro641=)
c.1890A>T (p.Pro630=)
c.1935A>T (p.Pro645=)
17g.746120T>CCA497383809GEMIN4c.1923A>G (p.Pro641=)
c.1890A>G (p.Pro630=)
c.1935A>G (p.Pro645=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746120T>GCA497383810GEMIN4c.1923A>C (p.Pro641=)
c.1890A>C (p.Pro630=)
c.1935A>C (p.Pro645=)
17g.746120T=CA2242474572GEMIN4c.1923A= (p.Pro641=)
c.1890A= (p.Pro630=)
c.1935A= (p.Pro645=)
17g.746121G>ACA397506071GEMIN4c.1922C>T (p.Pro641Leu)
c.1889C>T (p.Pro630Leu)
c.1934C>T (p.Pro645Leu)
17g.746121G>CCA397506072GEMIN4c.1922C>G (p.Pro641Arg)
c.1889C>G (p.Pro630Arg)
c.1934C>G (p.Pro645Arg)
17g.746121G>TCA397506073GEMIN4c.1922C>A (p.Pro641Gln)
c.1889C>A (p.Pro630Gln)
c.1934C>A (p.Pro645Gln)
17g.746122G>ACA397506074GEMIN4c.1921C>T (p.Pro641Ser)
c.1888C>T (p.Pro630Ser)
c.1933C>T (p.Pro645Ser)
 gnomAD v4
17g.746122G>CCA397506075GEMIN4c.1921C>G (p.Pro641Ala)
c.1888C>G (p.Pro630Ala)
c.1933C>G (p.Pro645Ala)
17g.746122G>TCA397506076GEMIN4c.1921C>A (p.Pro641Thr)
c.1888C>A (p.Pro630Thr)
c.1933C>A (p.Pro645Thr)
17g.746123A>CCA397506077GEMIN4c.1920T>G (p.Ile640Met)
c.1887T>G (p.Ile629Met)
c.1932T>G (p.Ile644Met)
17g.746123A>GCA497383814GEMIN4c.1920T>C (p.Ile640=)
c.1887T>C (p.Ile629=)
c.1932T>C (p.Ile644=)
17g.746123A>TCA497383815GEMIN4c.1920T>A (p.Ile640=)
c.1887T>A (p.Ile629=)
c.1932T>A (p.Ile644=)
17g.746124A=CA2242474573GEMIN4c.1919T= (p.Ile640=)
c.1886T= (p.Ile629=)
c.1931T= (p.Ile644=)
17g.746124A>CCA8262521GEMIN4c.1919T>G (p.Ile640Ser)
c.1886T>G (p.Ile629Ser)
c.1931T>G (p.Ile644Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746124A>GCA397506078GEMIN4c.1919T>C (p.Ile640Thr)
c.1886T>C (p.Ile629Thr)
c.1931T>C (p.Ile644Thr)
17g.746124A>TCA397506079GEMIN4c.1919T>A (p.Ile640Asn)
c.1886T>A (p.Ile629Asn)
c.1931T>A (p.Ile644Asn)
17g.746125T>ACA397506081GEMIN4c.1918A>T (p.Ile640Phe)
c.1885A>T (p.Ile629Phe)
c.1930A>T (p.Ile644Phe)
17g.746125T>CCA397506082GEMIN4c.1918A>G (p.Ile640Val)
c.1885A>G (p.Ile629Val)
c.1930A>G (p.Ile644Val)
17g.746125T>GCA397506080GEMIN4c.1918A>C (p.Ile640Leu)
c.1885A>C (p.Ile629Leu)
c.1930A>C (p.Ile644Leu)
17g.746126C>ACA8262522GEMIN4c.1917G>T (p.Gly639=)
c.1884G>T (p.Gly628=)
c.1929G>T (p.Gly643=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746126C=CA2242474574GEMIN4c.1917G= (p.Gly639=)
c.1884G= (p.Gly628=)
c.1929G= (p.Gly643=)
17g.746126C>GCA497383820GEMIN4c.1917G>C (p.Gly639=)
c.1884G>C (p.Gly628=)
c.1929G>C (p.Gly643=)
17g.746126C>TCA497383819GEMIN4c.1917G>A (p.Gly639=)
c.1884G>A (p.Gly628=)
c.1929G>A (p.Gly643=)
17g.746127C>ACA397506083GEMIN4c.1916G>T (p.Gly639Val)
c.1883G>T (p.Gly628Val)
c.1928G>T (p.Gly643Val)
17g.746127C=CA2242474575GEMIN4c.1916G= (p.Gly639=)
c.1883G= (p.Gly628=)
c.1928G= (p.Gly643=)
17g.746127C>GCA397506084GEMIN4c.1916G>C (p.Gly639Ala)
c.1883G>C (p.Gly628Ala)
c.1928G>C (p.Gly643Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.746127C>TCA397506085GEMIN4c.1916G>A (p.Gly639Glu)
c.1883G>A (p.Gly628Glu)
c.1928G>A (p.Gly643Glu)
17g.746128C>ACA397506086GEMIN4c.1915G>T (p.Gly639Trp)
c.1882G>T (p.Gly628Trp)
c.1927G>T (p.Gly643Trp)
 dbSNP gnomAD v2 gnomAD v4
17g.746128C=CA2242474576GEMIN4c.1915G= (p.Gly639=)
c.1882G= (p.Gly628=)
c.1927G= (p.Gly643=)
17g.746128C>GCA397506087GEMIN4c.1915G>C (p.Gly639Arg)
c.1882G>C (p.Gly628Arg)
c.1927G>C (p.Gly643Arg)
17g.746128C>TCA397506088GEMIN4c.1915G>A (p.Gly639Arg)
c.1882G>A (p.Gly628Arg)
c.1927G>A (p.Gly643Arg)
17g.746129T>ACA397506089GEMIN4c.1914A>T (p.Gln638His)
c.1881A>T (p.Gln627His)
c.1926A>T (p.Gln642His)
17g.746129T>CCA497383826GEMIN4c.1914A>G (p.Gln638=)
c.1881A>G (p.Gln627=)
c.1926A>G (p.Gln642=)
 gnomAD v4
17g.746129T>GCA397506090GEMIN4c.1914A>C (p.Gln638His)
c.1881A>C (p.Gln627His)
c.1926A>C (p.Gln642His)
17g.746130T>ACA397506091GEMIN4c.1913A>T (p.Gln638Leu)
c.1880A>T (p.Gln627Leu)
c.1925A>T (p.Gln642Leu)
17g.746130T>CCA397506092GEMIN4c.1913A>G (p.Gln638Arg)
c.1880A>G (p.Gln627Arg)
c.1925A>G (p.Gln642Arg)
17g.746130T>GCA397506093GEMIN4c.1913A>C (p.Gln638Pro)
c.1880A>C (p.Gln627Pro)
c.1925A>C (p.Gln642Pro)
17g.746131G>ACA397506095GEMIN4c.1912C>T (p.Gln638Ter)
c.1879C>T (p.Gln627Ter)
c.1924C>T (p.Gln642Ter)
 ClinVar dbSNP gnomAD v4
17g.746131G>CCA397506096GEMIN4c.1912C>G (p.Gln638Glu)
c.1879C>G (p.Gln627Glu)
c.1924C>G (p.Gln642Glu)
 gnomAD v4
17g.746131G=CA2242474577GEMIN4c.1912C= (p.Gln638=)
c.1879C= (p.Gln627=)
c.1924C= (p.Gln642=)
17g.746131G>TCA397506094GEMIN4c.1912C>A (p.Gln638Lys)
c.1879C>A (p.Gln627Lys)
c.1924C>A (p.Gln642Lys)
17g.746132G>ACA497383831GEMIN4c.1911C>T (p.Pro637=)
c.1878C>T (p.Pro626=)
c.1923C>T (p.Pro641=)
17g.746132G>CCA497383832GEMIN4c.1911C>G (p.Pro637=)
c.1878C>G (p.Pro626=)
c.1923C>G (p.Pro641=)
 gnomAD v4
17g.746132G>TCA497383833GEMIN4c.1911C>A (p.Pro637=)
c.1878C>A (p.Pro626=)
c.1923C>A (p.Pro641=)
17g.746133G>ACA397506097GEMIN4c.1910C>T (p.Pro637Leu)
c.1877C>T (p.Pro626Leu)
c.1922C>T (p.Pro641Leu)
17g.746133G>CCA397506098GEMIN4c.1910C>G (p.Pro637Arg)
c.1877C>G (p.Pro626Arg)
c.1922C>G (p.Pro641Arg)
17g.746133G>TCA397506099GEMIN4c.1910C>A (p.Pro637His)
c.1877C>A (p.Pro626His)
c.1922C>A (p.Pro641His)
17g.746134G>ACA397506100GEMIN4c.1909C>T (p.Pro637Ser)
c.1876C>T (p.Pro626Ser)
c.1921C>T (p.Pro641Ser)
17g.746134G>CCA397506101GEMIN4c.1909C>G (p.Pro637Ala)
c.1876C>G (p.Pro626Ala)
c.1921C>G (p.Pro641Ala)
17g.746134G>TCA397506102GEMIN4c.1909C>A (p.Pro637Thr)
c.1876C>A (p.Pro626Thr)
c.1921C>A (p.Pro641Thr)
17g.746135T>ACA397506103GEMIN4c.1908A>T (p.Lys636Asn)
c.1875A>T (p.Lys625Asn)
c.1920A>T (p.Lys640Asn)
17g.746135T>CCA497383845GEMIN4c.1908A>G (p.Lys636=)
c.1875A>G (p.Lys625=)
c.1920A>G (p.Lys640=)
17g.746135T>GCA397506104GEMIN4c.1908A>C (p.Lys636Asn)
c.1875A>C (p.Lys625Asn)
c.1920A>C (p.Lys640Asn)
17g.746136T>ACA397506105GEMIN4c.1907A>T (p.Lys636Ile)
c.1874A>T (p.Lys625Ile)
c.1919A>T (p.Lys640Ile)
17g.746136T>CCA397506106GEMIN4c.1907A>G (p.Lys636Arg)
c.1874A>G (p.Lys625Arg)
c.1919A>G (p.Lys640Arg)
17g.746136T>GCA397506107GEMIN4c.1907A>C (p.Lys636Thr)
c.1874A>C (p.Lys625Thr)
c.1919A>C (p.Lys640Thr)
17g.746137T>ACA397506108GEMIN4c.1906A>T (p.Lys636Ter)
c.1873A>T (p.Lys625Ter)
c.1918A>T (p.Lys640Ter)
 gnomAD v4
17g.746137T>CCA397506109GEMIN4c.1906A>G (p.Lys636Glu)
c.1873A>G (p.Lys625Glu)
c.1918A>G (p.Lys640Glu)
17g.746137T>GCA397506110GEMIN4c.1906A>C (p.Lys636Gln)
c.1873A>C (p.Lys625Gln)
c.1918A>C (p.Lys640Gln)
17g.746138C>ACA497383848GEMIN4c.1905G>T (p.Val635=)
c.1872G>T (p.Val624=)
c.1917G>T (p.Val639=)
17g.746138C>GCA497383849GEMIN4c.1905G>C (p.Val635=)
c.1872G>C (p.Val624=)
c.1917G>C (p.Val639=)
17g.746138C>TCA497383850GEMIN4c.1905G>A (p.Val635=)
c.1872G>A (p.Val624=)
c.1917G>A (p.Val639=)
17g.746139A=CA2242474578GEMIN4c.1904T= (p.Val635=)
c.1871T= (p.Val624=)
c.1916T= (p.Val639=)
17g.746139A>CCA397506112GEMIN4c.1904T>G (p.Val635Gly)
c.1871T>G (p.Val624Gly)
c.1916T>G (p.Val639Gly)
17g.746139A>GCA8262523GEMIN4c.1904T>C (p.Val635Ala)
c.1871T>C (p.Val624Ala)
c.1916T>C (p.Val639Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746139A>TCA397506111GEMIN4c.1904T>A (p.Val635Glu)
c.1871T>A (p.Val624Glu)
c.1916T>A (p.Val639Glu)
17g.746140C>ACA397506113GEMIN4c.1903G>T (p.Val635Leu)
c.1870G>T (p.Val624Leu)
c.1915G>T (p.Val639Leu)
17g.746140C=CA2242474579GEMIN4c.1903G= (p.Val635=)
c.1870G= (p.Val624=)
c.1915G= (p.Val639=)
17g.746140C>GCA397506114GEMIN4c.1903G>C (p.Val635Leu)
c.1870G>C (p.Val624Leu)
c.1915G>C (p.Val639Leu)
17g.746140C>TCA8262524GEMIN4c.1903G>A (p.Val635Met)
c.1870G>A (p.Val624Met)
c.1915G>A (p.Val639Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746141G>ACA8262525GEMIN4c.1902C>T (p.Pro634=)
c.1869C>T (p.Pro623=)
c.1914C>T (p.Pro638=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746141G>CCA497383858GEMIN4c.1902C>G (p.Pro634=)
c.1869C>G (p.Pro623=)
c.1914C>G (p.Pro638=)
17g.746141G=CA2242474580GEMIN4c.1902C= (p.Pro634=)
c.1869C= (p.Pro623=)
c.1914C= (p.Pro638=)
17g.746141G>TCA497383859GEMIN4c.1902C>A (p.Pro634=)
c.1869C>A (p.Pro623=)
c.1914C>A (p.Pro638=)
17g.746142G>ACA8262527GEMIN4c.1901C>T (p.Pro634Leu)
c.1868C>T (p.Pro623Leu)
c.1913C>T (p.Pro638Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746142G>CCA397506115GEMIN4c.1901C>G (p.Pro634Arg)
c.1868C>G (p.Pro623Arg)
c.1913C>G (p.Pro638Arg)
17g.746142G=CA2242474581GEMIN4c.1901C= (p.Pro634=)
c.1868C= (p.Pro623=)
c.1913C= (p.Pro638=)
17g.746142G>TCA8262526GEMIN4c.1901C>A (p.Pro634His)
c.1868C>A (p.Pro623His)
c.1913C>A (p.Pro638His)
 dbSNP ExAC gnomAD v2
17g.746143G>ACA397506116GEMIN4c.1900C>T (p.Pro634Ser)
c.1867C>T (p.Pro623Ser)
c.1912C>T (p.Pro638Ser)
17g.746143G>CCA397506117GEMIN4c.1900C>G (p.Pro634Ala)
c.1867C>G (p.Pro623Ala)
c.1912C>G (p.Pro638Ala)
 gnomAD v4
17g.746143G>TCA397506118GEMIN4c.1900C>A (p.Pro634Thr)
c.1867C>A (p.Pro623Thr)
c.1912C>A (p.Pro638Thr)
17g.746144A>CCA397506119GEMIN4c.1899T>G (p.Ser633Arg)
c.1866T>G (p.Ser622Arg)
c.1911T>G (p.Ser637Arg)
17g.746144A>GCA497383865GEMIN4c.1899T>C (p.Ser633=)
c.1866T>C (p.Ser622=)
c.1911T>C (p.Ser637=)
17g.746144A>TCA397506120GEMIN4c.1899T>A (p.Ser633Arg)
c.1866T>A (p.Ser622Arg)
c.1911T>A (p.Ser637Arg)
17g.746145C>ACA397506121GEMIN4c.1898G>T (p.Ser633Ile)
c.1865G>T (p.Ser622Ile)
c.1910G>T (p.Ser637Ile)
17g.746145C>GCA397506122GEMIN4c.1898G>C (p.Ser633Thr)
c.1865G>C (p.Ser622Thr)
c.1910G>C (p.Ser637Thr)
17g.746145C>TCA397506123GEMIN4c.1898G>A (p.Ser633Asn)
c.1865G>A (p.Ser622Asn)
c.1910G>A (p.Ser637Asn)
 dbSNP
17g.746146T>ACA397506125GEMIN4c.1897A>T (p.Ser633Cys)
c.1864A>T (p.Ser622Cys)
c.1909A>T (p.Ser637Cys)
17g.746146T>CCA397506126GEMIN4c.1897A>G (p.Ser633Gly)
c.1864A>G (p.Ser622Gly)
c.1909A>G (p.Ser637Gly)
17g.746146T>GCA397506124GEMIN4c.1897A>C (p.Ser633Arg)
c.1864A>C (p.Ser622Arg)
c.1909A>C (p.Ser637Arg)
 dbSNP
17g.746147C>ACA397506127GEMIN4c.1896G>T (p.Met632Ile)
c.1863G>T (p.Met621Ile)
c.1908G>T (p.Met636Ile)
17g.746147C>GCA397506128GEMIN4c.1896G>C (p.Met632Ile)
c.1863G>C (p.Met621Ile)
c.1908G>C (p.Met636Ile)
17g.746147C>TCA397506129GEMIN4c.1896G>A (p.Met632Ile)
c.1863G>A (p.Met621Ile)
c.1908G>A (p.Met636Ile)
17g.746148A>CCA397506130GEMIN4c.1895T>G (p.Met632Arg)
c.1862T>G (p.Met621Arg)
c.1907T>G (p.Met636Arg)
17g.746148A>GCA397506131GEMIN4c.1895T>C (p.Met632Thr)
c.1862T>C (p.Met621Thr)
c.1907T>C (p.Met636Thr)
17g.746148A>TCA397506132GEMIN4c.1895T>A (p.Met632Lys)
c.1862T>A (p.Met621Lys)
c.1907T>A (p.Met636Lys)
 COSMIC COSMIC
17g.746149T>ACA397506133GEMIN4c.1894A>T (p.Met632Leu)
c.1861A>T (p.Met621Leu)
c.1906A>T (p.Met636Leu)
17g.746149T>CCA397506135GEMIN4c.1894A>G (p.Met632Val)
c.1861A>G (p.Met621Val)
c.1906A>G (p.Met636Val)
17g.746149T>GCA397506134GEMIN4c.1894A>C (p.Met632Leu)
c.1861A>C (p.Met621Leu)
c.1906A>C (p.Met636Leu)
17g.746150C>ACA497383877GEMIN4c.1893G>T (p.Leu631=)
c.1860G>T (p.Leu620=)
c.1905G>T (p.Leu635=)
17g.746150C=CA2242474582GEMIN4c.1893G= (p.Leu631=)
c.1860G= (p.Leu620=)
c.1905G= (p.Leu635=)
17g.746150C>GCA497383879GEMIN4c.1893G>C (p.Leu631=)
c.1860G>C (p.Leu620=)
c.1905G>C (p.Leu635=)
 dbSNP gnomAD v4
17g.746150C>TCA497383880GEMIN4c.1893G>A (p.Leu631=)
c.1860G>A (p.Leu620=)
c.1905G>A (p.Leu635=)
17g.746151A>CCA397506136GEMIN4c.1892T>G (p.Leu631Arg)
c.1859T>G (p.Leu620Arg)
c.1904T>G (p.Leu635Arg)
17g.746151A>GCA397506137GEMIN4c.1892T>C (p.Leu631Pro)
c.1859T>C (p.Leu620Pro)
c.1904T>C (p.Leu635Pro)
17g.746151A>TCA397506138GEMIN4c.1892T>A (p.Leu631Gln)
c.1859T>A (p.Leu620Gln)
c.1904T>A (p.Leu635Gln)
17g.746152G>ACA497383883GEMIN4c.1891C>T (p.Leu631=)
c.1858C>T (p.Leu620=)
c.1903C>T (p.Leu635=)
 dbSNP gnomAD v4
17g.746152G>CCA8262528GEMIN4c.1891C>G (p.Leu631Val)
c.1858C>G (p.Leu620Val)
c.1903C>G (p.Leu635Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746152G=CA2242474583GEMIN4c.1891C= (p.Leu631=)
c.1858C= (p.Leu620=)
c.1903C= (p.Leu635=)
17g.746152G>TCA397506139GEMIN4c.1891C>A (p.Leu631Met)
c.1858C>A (p.Leu620Met)
c.1903C>A (p.Leu635Met)
17g.746153G>ACA497383885GEMIN4c.1890C>T (p.Cys630=)
c.1857C>T (p.Cys619=)
c.1902C>T (p.Cys634=)
17g.746153G>CCA397506140GEMIN4c.1890C>G (p.Cys630Trp)
c.1857C>G (p.Cys619Trp)
c.1902C>G (p.Cys634Trp)
17g.746153G=CA2242474584GEMIN4c.1890C= (p.Cys630=)
c.1857C= (p.Cys619=)
c.1902C= (p.Cys634=)
17g.746153G>TCA8262529GEMIN4c.1890C>A (p.Cys630Ter)
c.1857C>A (p.Cys619Ter)
c.1902C>A (p.Cys634Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746154C>ACA397506141GEMIN4c.1889G>T (p.Cys630Phe)
c.1856G>T (p.Cys619Phe)
c.1901G>T (p.Cys634Phe)
 dbSNP gnomAD v2 gnomAD v4
17g.746154C=CA2242474585GEMIN4c.1889G= (p.Cys630=)
c.1856G= (p.Cys619=)
c.1901G= (p.Cys634=)
17g.746154C>GCA397506142GEMIN4c.1889G>C (p.Cys630Ser)
c.1856G>C (p.Cys619Ser)
c.1901G>C (p.Cys634Ser)
17g.746154C>TCA397506143GEMIN4c.1889G>A (p.Cys630Tyr)
c.1856G>A (p.Cys619Tyr)
c.1901G>A (p.Cys634Tyr)
17g.746155A=CA2242474586GEMIN4c.1888T= (p.Cys630=)
c.1855T= (p.Cys619=)
c.1900T= (p.Cys634=)
17g.746155A>CCA397506144GEMIN4c.1888T>G (p.Cys630Gly)
c.1855T>G (p.Cys619Gly)
c.1900T>G (p.Cys634Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.746155A>GCA8262530GEMIN4c.1888T>C (p.Cys630Arg)
c.1855T>C (p.Cys619Arg)
c.1900T>C (p.Cys634Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746155A>TCA397506145GEMIN4c.1888T>A (p.Cys630Ser)
c.1855T>A (p.Cys619Ser)
c.1900T>A (p.Cys634Ser)
17g.746156G>ACA286713676GEMIN4c.1887C>T (p.Asn629=)
c.1854C>T (p.Asn618=)
c.1899C>T (p.Asn633=)
 dbSNP gnomAD v4
17g.746156G>CCA397506147GEMIN4c.1887C>G (p.Asn629Lys)
c.1854C>G (p.Asn618Lys)
c.1899C>G (p.Asn633Lys)
17g.746156G=CA2242474587GEMIN4c.1887C= (p.Asn629=)
c.1854C= (p.Asn618=)
c.1899C= (p.Asn633=)
17g.746156G>TCA397506146GEMIN4c.1887C>A (p.Asn629Lys)
c.1854C>A (p.Asn618Lys)
c.1899C>A (p.Asn633Lys)
17g.746157T>ACA397506148GEMIN4c.1886A>T (p.Asn629Ile)
c.1853A>T (p.Asn618Ile)
c.1898A>T (p.Asn633Ile)
17g.746157T>CCA397506149GEMIN4c.1886A>G (p.Asn629Ser)
c.1853A>G (p.Asn618Ser)
c.1898A>G (p.Asn633Ser)
17g.746157T>GCA397506150GEMIN4c.1886A>C (p.Asn629Thr)
c.1853A>C (p.Asn618Thr)
c.1898A>C (p.Asn633Thr)
17g.746158T>ACA397506151GEMIN4c.1885A>T (p.Asn629Tyr)
c.1852A>T (p.Asn618Tyr)
c.1897A>T (p.Asn633Tyr)
17g.746158T>CCA397506152GEMIN4c.1885A>G (p.Asn629Asp)
c.1852A>G (p.Asn618Asp)
c.1897A>G (p.Asn633Asp)
17g.746158T>GCA397506153GEMIN4c.1885A>C (p.Asn629His)
c.1852A>C (p.Asn618His)
c.1897A>C (p.Asn633His)
17g.746159C>ACA497383896GEMIN4c.1884G>T (p.Leu628=)
c.1851G>T (p.Leu617=)
c.1896G>T (p.Leu632=)
17g.746159C>GCA497383897GEMIN4c.1884G>C (p.Leu628=)
c.1851G>C (p.Leu617=)
c.1896G>C (p.Leu632=)
17g.746159C>TCA497383895GEMIN4c.1884G>A (p.Leu628=)
c.1851G>A (p.Leu617=)
c.1896G>A (p.Leu632=)
17g.746160A=CA2242474588GEMIN4c.1883T= (p.Leu628=)
c.1850T= (p.Leu617=)
c.1895T= (p.Leu632=)
17g.746160A>CCA397506154GEMIN4c.1883T>G (p.Leu628Arg)
c.1850T>G (p.Leu617Arg)
c.1895T>G (p.Leu632Arg)
17g.746160A>GCA8262531GEMIN4c.1883T>C (p.Leu628Pro)
c.1850T>C (p.Leu617Pro)
c.1895T>C (p.Leu632Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746160A>TCA397506155GEMIN4c.1883T>A (p.Leu628Gln)
c.1850T>A (p.Leu617Gln)
c.1895T>A (p.Leu632Gln)
17g.746161G>ACA8262532GEMIN4c.1882C>T (p.Leu628=)
c.1849C>T (p.Leu617=)
c.1894C>T (p.Leu632=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746161G>CCA397506156GEMIN4c.1882C>G (p.Leu628Val)
c.1849C>G (p.Leu617Val)
c.1894C>G (p.Leu632Val)
17g.746161G=CA2242474589GEMIN4c.1882C= (p.Leu628=)
c.1849C= (p.Leu617=)
c.1894C= (p.Leu632=)
17g.746161G>TCA397506157GEMIN4c.1882C>A (p.Leu628Met)
c.1849C>A (p.Leu617Met)
c.1894C>A (p.Leu632Met)
17g.746162G>ACA497383904GEMIN4c.1881C>T (p.Leu627=)
c.1848C>T (p.Leu616=)
c.1893C>T (p.Leu631=)
 dbSNP gnomAD v2 gnomAD v4
17g.746162G>CCA497383900GEMIN4c.1881C>G (p.Leu627=)
c.1848C>G (p.Leu616=)
c.1893C>G (p.Leu631=)
 dbSNP
17g.746162G=CA2242474590GEMIN4c.1881C= (p.Leu627=)
c.1848C= (p.Leu616=)
c.1893C= (p.Leu631=)
17g.746162G>TCA497383898GEMIN4c.1881C>A (p.Leu627=)
c.1848C>A (p.Leu616=)
c.1893C>A (p.Leu631=)
17g.746163A=CA2242474591GEMIN4c.1880T= (p.Leu627=)
c.1847T= (p.Leu616=)
c.1892T= (p.Leu631=)
17g.746163A>CCA397506158GEMIN4c.1880T>G (p.Leu627Arg)
c.1847T>G (p.Leu616Arg)
c.1892T>G (p.Leu631Arg)
17g.746163A>GCA8262533GEMIN4c.1880T>C (p.Leu627Pro)
c.1847T>C (p.Leu616Pro)
c.1892T>C (p.Leu631Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746163A>TCA397506159GEMIN4c.1880T>A (p.Leu627His)
c.1847T>A (p.Leu616His)
c.1892T>A (p.Leu631His)
17g.746164G>ACA397506160GEMIN4c.1879C>T (p.Leu627Phe)
c.1846C>T (p.Leu616Phe)
c.1891C>T (p.Leu631Phe)
 COSMIC COSMIC
17g.746164G>CCA397506161GEMIN4c.1879C>G (p.Leu627Val)
c.1846C>G (p.Leu616Val)
c.1891C>G (p.Leu631Val)
17g.746164G>TCA397506162GEMIN4c.1879C>A (p.Leu627Ile)
c.1846C>A (p.Leu616Ile)
c.1891C>A (p.Leu631Ile)
 gnomAD v4

Number of alleles fetched