Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.32997092delCA658821298GLB1c.1991del (p.Pro664HisfsTer22)
c.1598del (p.Pro533HisfsTer22)
c.1901del (p.Pro634HisfsTer22)
c.2135del (p.Pro712HisfsTer22)
c.1734+16968del (n.1734+16968del)
 ClinVar dbSNP
3g.32997089G>ACA351999969GLB1c.1990C>T (p.Pro664Ser)
c.1597C>T (p.Pro533Ser)
c.1900C>T (p.Pro634Ser)
c.2134C>T (p.Pro712Ser)
c.1734+16967C>T (n.1734+16967C>T)
 ClinVar gnomAD v4
3g.32997089G>CCA351999970GLB1c.1990C>G (p.Pro664Ala)
c.1597C>G (p.Pro533Ala)
c.1900C>G (p.Pro634Ala)
c.2134C>G (p.Pro712Ala)
c.1734+16967C>G (n.1734+16967C>G)
3g.32997089G>TCA351999971GLB1c.1990C>A (p.Pro664Thr)
c.1597C>A (p.Pro533Thr)
c.1900C>A (p.Pro634Thr)
c.2134C>A (p.Pro712Thr)
c.1734+16967C>A (n.1734+16967C>A)
3g.32997090G>ACA432960136GLB1c.1989C>T (p.Pro663=)
c.1596C>T (p.Pro532=)
c.1899C>T (p.Pro633=)
c.2133C>T (p.Pro711=)
c.1734+16966C>T (n.1734+16966C>T)
 ClinVar dbSNP
3g.32997090G>CCA432960137GLB1c.1989C>G (p.Pro663=)
c.1596C>G (p.Pro532=)
c.1899C>G (p.Pro633=)
c.2133C>G (p.Pro711=)
c.1734+16966C>G (n.1734+16966C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32997090G=CA1355976897GLB1c.1989C= (p.Pro663=)
c.1596C= (p.Pro532=)
c.1899C= (p.Pro633=)
c.2133C= (p.Pro711=)
c.1734+16966C= (n.1734+16966C=)
3g.32997090G>TCA432960138GLB1c.1989C>A (p.Pro663=)
c.1596C>A (p.Pro532=)
c.1899C>A (p.Pro633=)
c.2133C>A (p.Pro711=)
c.1734+16966C>A (n.1734+16966C>A)
3g.32997091G>ACA351999973GLB1c.1988C>T (p.Pro663Leu)
c.1595C>T (p.Pro532Leu)
c.1898C>T (p.Pro633Leu)
c.2132C>T (p.Pro711Leu)
c.1734+16965C>T (n.1734+16965C>T)
 gnomAD v4
3g.32997091G>CCA351999974GLB1c.1988C>G (p.Pro663Arg)
c.1595C>G (p.Pro532Arg)
c.1898C>G (p.Pro633Arg)
c.2132C>G (p.Pro711Arg)
c.1734+16965C>G (n.1734+16965C>G)
3g.32997091G>TCA351999975GLB1c.1988C>A (p.Pro663His)
c.1595C>A (p.Pro532His)
c.1898C>A (p.Pro633His)
c.2132C>A (p.Pro711His)
c.1734+16965C>A (n.1734+16965C>A)
3g.32997092G>ACA351999976GLB1c.1987C>T (p.Pro663Ser)
c.1594C>T (p.Pro532Ser)
c.1897C>T (p.Pro633Ser)
c.2131C>T (p.Pro711Ser)
c.1734+16964C>T (n.1734+16964C>T)
3g.32997092G>CCA351999978GLB1c.1987C>G (p.Pro663Ala)
c.1594C>G (p.Pro532Ala)
c.1897C>G (p.Pro633Ala)
c.2131C>G (p.Pro711Ala)
c.1734+16964C>G (n.1734+16964C>G)
3g.32997092G>TCA351999977GLB1c.1987C>A (p.Pro663Thr)
c.1594C>A (p.Pro532Thr)
c.1897C>A (p.Pro633Thr)
c.2131C>A (p.Pro711Thr)
c.1734+16964C>A (n.1734+16964C>A)
3g.32997093C>ACA351999979GLB1c.1986G>T (p.Met662Ile)
c.1593G>T (p.Met531Ile)
c.1896G>T (p.Met632Ile)
c.2130G>T (p.Met710Ile)
c.1734+16963G>T (n.1734+16963G>T)
3g.32997093C=CA1355976898GLB1c.1986G= (p.Met662=)
c.1593G= (p.Met531=)
c.1896G= (p.Met632=)
c.2130G= (p.Met710=)
c.1734+16963G= (n.1734+16963G=)
3g.32997093C>GCA351999981GLB1c.1986G>C (p.Met662Ile)
c.1593G>C (p.Met531Ile)
c.1896G>C (p.Met632Ile)
c.2130G>C (p.Met710Ile)
c.1734+16963G>C (n.1734+16963G>C)
3g.32997093C>TCA351999983GLB1c.1986G>A (p.Met662Ile)
c.1593G>A (p.Met531Ile)
c.1896G>A (p.Met632Ile)
c.2130G>A (p.Met710Ile)
c.1734+16963G>A (n.1734+16963G>A)
 dbSNP gnomAD v4
3g.32997094A>CCA351999985GLB1c.1985T>G (p.Met662Arg)
c.1592T>G (p.Met531Arg)
c.1895T>G (p.Met632Arg)
c.2129T>G (p.Met710Arg)
c.1734+16962T>G (n.1734+16962T>G)
3g.32997094A>GCA351999986GLB1c.1985T>C (p.Met662Thr)
c.1592T>C (p.Met531Thr)
c.1895T>C (p.Met632Thr)
c.2129T>C (p.Met710Thr)
c.1734+16962T>C (n.1734+16962T>C)
3g.32997094A>TCA351999987GLB1c.1985T>A (p.Met662Lys)
c.1592T>A (p.Met531Lys)
c.1895T>A (p.Met632Lys)
c.2129T>A (p.Met710Lys)
c.1734+16962T>A (n.1734+16962T>A)
3g.32997095T>ACA351999988GLB1c.1984A>T (p.Met662Leu)
c.1591A>T (p.Met531Leu)
c.1894A>T (p.Met632Leu)
c.2128A>T (p.Met710Leu)
c.1734+16961A>T (n.1734+16961A>T)
 gnomAD v4
3g.32997095T>CCA351999989GLB1c.1984A>G (p.Met662Val)
c.1591A>G (p.Met531Val)
c.1894A>G (p.Met632Val)
c.2128A>G (p.Met710Val)
c.1734+16961A>G (n.1734+16961A>G)
3g.32997095T>GCA351999990GLB1c.1984A>C (p.Met662Leu)
c.1591A>C (p.Met531Leu)
c.1894A>C (p.Met632Leu)
c.2128A>C (p.Met710Leu)
c.1734+16961A>C (n.1734+16961A>C)
3g.32997096G>ACA2299263GLB1c.1983C>T (p.Leu661=)
c.1590C>T (p.Leu530=)
c.1893C>T (p.Leu631=)
c.2127C>T (p.Leu709=)
c.1734+16960C>T (n.1734+16960C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997096G>CCA432960139GLB1c.1983C>G (p.Leu661=)
c.1590C>G (p.Leu530=)
c.1893C>G (p.Leu631=)
c.2127C>G (p.Leu709=)
c.1734+16960C>G (n.1734+16960C>G)
3g.32997096G=CA1355976899GLB1c.1983C= (p.Leu661=)
c.1590C= (p.Leu530=)
c.1893C= (p.Leu631=)
c.2127C= (p.Leu709=)
c.1734+16960C= (n.1734+16960C=)
3g.32997096G>TCA432960140GLB1c.1983C>A (p.Leu661=)
c.1590C>A (p.Leu530=)
c.1893C>A (p.Leu631=)
c.2127C>A (p.Leu709=)
c.1734+16960C>A (n.1734+16960C>A)
3g.32997097A>CCA351999994GLB1c.1982T>G (p.Leu661Arg)
c.1589T>G (p.Leu530Arg)
c.1892T>G (p.Leu631Arg)
c.2126T>G (p.Leu709Arg)
c.1734+16959T>G (n.1734+16959T>G)
3g.32997097A>GCA351999993GLB1c.1982T>C (p.Leu661Pro)
c.1589T>C (p.Leu530Pro)
c.1892T>C (p.Leu631Pro)
c.2126T>C (p.Leu709Pro)
c.1734+16959T>C (n.1734+16959T>C)
3g.32997097A>TCA351999992GLB1c.1982T>A (p.Leu661His)
c.1589T>A (p.Leu530His)
c.1892T>A (p.Leu631His)
c.2126T>A (p.Leu709His)
c.1734+16959T>A (n.1734+16959T>A)
3g.32997098G>ACA2299264GLB1c.1981C>T (p.Leu661Phe)
c.1588C>T (p.Leu530Phe)
c.1891C>T (p.Leu631Phe)
c.2125C>T (p.Leu709Phe)
c.1734+16958C>T (n.1734+16958C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997098G>CCA351999996GLB1c.1981C>G (p.Leu661Val)
c.1588C>G (p.Leu530Val)
c.1891C>G (p.Leu631Val)
c.2125C>G (p.Leu709Val)
c.1734+16958C>G (n.1734+16958C>G)
 gnomAD v4
3g.32997098G=CA1355976900GLB1c.1981C= (p.Leu661=)
c.1588C= (p.Leu530=)
c.1891C= (p.Leu631=)
c.2125C= (p.Leu709=)
c.1734+16958C= (n.1734+16958C=)
3g.32997098G>TCA351999995GLB1c.1981C>A (p.Leu661Ile)
c.1588C>A (p.Leu530Ile)
c.1891C>A (p.Leu631Ile)
c.2125C>A (p.Leu709Ile)
c.1734+16958C>A (n.1734+16958C>A)
 dbSNP
3g.32997099T>ACA351999998GLB1c.1980A>T (p.Arg660Ser)
c.1587A>T (p.Arg529Ser)
c.1890A>T (p.Arg630Ser)
c.2124A>T (p.Arg708Ser)
c.1734+16957A>T (n.1734+16957A>T)
3g.32997099T>CCA432960141GLB1c.1980A>G (p.Arg660=)
c.1587A>G (p.Arg529=)
c.1890A>G (p.Arg630=)
c.2124A>G (p.Arg708=)
c.1734+16957A>G (n.1734+16957A>G)
 ClinVar dbSNP
3g.32997099T>GCA352000000GLB1c.1980A>C (p.Arg660Ser)
c.1587A>C (p.Arg529Ser)
c.1890A>C (p.Arg630Ser)
c.2124A>C (p.Arg708Ser)
c.1734+16957A>C (n.1734+16957A>C)
3g.32997100C>ACA2299265GLB1c.1979G>T (p.Arg660Ile)
c.1586G>T (p.Arg529Ile)
c.1889G>T (p.Arg630Ile)
c.2123G>T (p.Arg708Ile)
c.1734+16956G>T (n.1734+16956G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.32997100C=CA1355976901GLB1c.1979G= (p.Arg660=)
c.1586G= (p.Arg529=)
c.1889G= (p.Arg630=)
c.2123G= (p.Arg708=)
c.1734+16956G= (n.1734+16956G=)
3g.32997100C>GCA352000003GLB1c.1979G>C (p.Arg660Thr)
c.1586G>C (p.Arg529Thr)
c.1889G>C (p.Arg630Thr)
c.2123G>C (p.Arg708Thr)
c.1734+16956G>C (n.1734+16956G>C)
 gnomAD v4
3g.32997100C>TCA352000005GLB1c.1979G>A (p.Arg660Lys)
c.1586G>A (p.Arg529Lys)
c.1889G>A (p.Arg630Lys)
c.2123G>A (p.Arg708Lys)
c.1734+16956G>A (n.1734+16956G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32997100dupCA2586971830GLB1c.1979dup (p.Leu661ThrfsTer?)
c.1586dup (p.Leu530ThrfsTer?)
c.1889dup (p.Leu631ThrfsTer?)
c.2123dup (p.Leu709ThrfsTer?)
c.1734+16956dup (n.1734+16956dup)
3g.32997101T>ACA352000006GLB1c.1978A>T (p.Arg660Ter)
c.1585A>T (p.Arg529Ter)
c.1888A>T (p.Arg630Ter)
c.2122A>T (p.Arg708Ter)
c.1734+16955A>T (n.1734+16955A>T)
 ClinVar dbSNP
3g.32997101T>CCA352000007GLB1c.1978A>G (p.Arg660Gly)
c.1585A>G (p.Arg529Gly)
c.1888A>G (p.Arg630Gly)
c.2122A>G (p.Arg708Gly)
c.1734+16955A>G (n.1734+16955A>G)
 gnomAD v4
3g.32997101T>GCA432960142GLB1c.1978A>C (p.Arg660=)
c.1585A>C (p.Arg529=)
c.1888A>C (p.Arg630=)
c.2122A>C (p.Arg708=)
c.1734+16955A>C (n.1734+16955A>C)
3g.32997101T=CA1355976902GLB1c.1978A= (p.Arg660=)
c.1585A= (p.Arg529=)
c.1888A= (p.Arg630=)
c.2122A= (p.Arg708=)
c.1734+16955A= (n.1734+16955A=)
3g.32997102T>ACA352000009GLB1c.1977A>T (p.Lys659Asn)
c.1584A>T (p.Lys528Asn)
c.1887A>T (p.Lys629Asn)
c.2121A>T (p.Lys707Asn)
c.1734+16954A>T (n.1734+16954A>T)
3g.32997102T>CCA432960143GLB1c.1977A>G (p.Lys659=)
c.1584A>G (p.Lys528=)
c.1887A>G (p.Lys629=)
c.2121A>G (p.Lys707=)
c.1734+16954A>G (n.1734+16954A>G)
3g.32997102T>GCA352000021GLB1c.1977A>C (p.Lys659Asn)
c.1584A>C (p.Lys528Asn)
c.1887A>C (p.Lys629Asn)
c.2121A>C (p.Lys707Asn)
c.1734+16954A>C (n.1734+16954A>C)
3g.32997103T>ACA352000024GLB1c.1976A>T (p.Lys659Ile)
c.1583A>T (p.Lys528Ile)
c.1886A>T (p.Lys629Ile)
c.2120A>T (p.Lys707Ile)
c.1734+16953A>T (n.1734+16953A>T)
3g.32997103T>CCA352000025GLB1c.1976A>G (p.Lys659Arg)
c.1583A>G (p.Lys528Arg)
c.1886A>G (p.Lys629Arg)
c.2120A>G (p.Lys707Arg)
c.1734+16953A>G (n.1734+16953A>G)
3g.32997103T>GCA352000026GLB1c.1976A>C (p.Lys659Thr)
c.1583A>C (p.Lys528Thr)
c.1886A>C (p.Lys629Thr)
c.2120A>C (p.Lys707Thr)
c.1734+16953A>C (n.1734+16953A>C)
3g.32997104T>ACA352000030GLB1c.1975A>T (p.Lys659Ter)
c.1582A>T (p.Lys528Ter)
c.1885A>T (p.Lys629Ter)
c.2119A>T (p.Lys707Ter)
c.1734+16952A>T (n.1734+16952A>T)
3g.32997104T>CCA352000029GLB1c.1975A>G (p.Lys659Glu)
c.1582A>G (p.Lys528Glu)
c.1885A>G (p.Lys629Glu)
c.2119A>G (p.Lys707Glu)
c.1734+16952A>G (n.1734+16952A>G)
 dbSNP
3g.32997104T>GCA352000027GLB1c.1975A>C (p.Lys659Gln)
c.1582A>C (p.Lys528Gln)
c.1885A>C (p.Lys629Gln)
c.2119A>C (p.Lys707Gln)
c.1734+16952A>C (n.1734+16952A>C)
3g.32997104T=CA1355976903GLB1c.1975A= (p.Lys659=)
c.1582A= (p.Lys528=)
c.1885A= (p.Lys629=)
c.2119A= (p.Lys707=)
c.1734+16952A= (n.1734+16952A=)
3g.32997105T>ACA352000031GLB1c.1974A>T (p.Glu658Asp)
c.1581A>T (p.Glu527Asp)
c.1884A>T (p.Glu628Asp)
c.2118A>T (p.Glu706Asp)
c.1734+16951A>T (n.1734+16951A>T)
3g.32997105T>CCA432960144GLB1c.1974A>G (p.Glu658=)
c.1581A>G (p.Glu527=)
c.1884A>G (p.Glu628=)
c.2118A>G (p.Glu706=)
c.1734+16951A>G (n.1734+16951A>G)
3g.32997105T>GCA352000032GLB1c.1974A>C (p.Glu658Asp)
c.1581A>C (p.Glu527Asp)
c.1884A>C (p.Glu628Asp)
c.2118A>C (p.Glu706Asp)
c.1734+16951A>C (n.1734+16951A>C)
3g.32997106T>ACA352000033GLB1c.1973A>T (p.Glu658Val)
c.1580A>T (p.Glu527Val)
c.1883A>T (p.Glu628Val)
c.2117A>T (p.Glu706Val)
c.1734+16950A>T (n.1734+16950A>T)
3g.32997106T>CCA352000035GLB1c.1973A>G (p.Glu658Gly)
c.1580A>G (p.Glu527Gly)
c.1883A>G (p.Glu628Gly)
c.2117A>G (p.Glu706Gly)
c.1734+16950A>G (n.1734+16950A>G)
3g.32997106T>GCA352000036GLB1c.1973A>C (p.Glu658Ala)
c.1580A>C (p.Glu527Ala)
c.1883A>C (p.Glu628Ala)
c.2117A>C (p.Glu706Ala)
c.1734+16950A>C (n.1734+16950A>C)
3g.32997107C>ACA352000038GLB1c.1972G>T (p.Glu658Ter)
c.1579G>T (p.Glu527Ter)
c.1882G>T (p.Glu628Ter)
c.2116G>T (p.Glu706Ter)
c.1734+16949G>T (n.1734+16949G>T)
 gnomAD v4
3g.32997107C=CA1355976904GLB1c.1972G= (p.Glu658=)
c.1579G= (p.Glu527=)
c.1882G= (p.Glu628=)
c.2116G= (p.Glu706=)
c.1734+16949G= (n.1734+16949G=)
3g.32997107C>GCA352000039GLB1c.1972G>C (p.Glu658Gln)
c.1579G>C (p.Glu527Gln)
c.1882G>C (p.Glu628Gln)
c.2116G>C (p.Glu706Gln)
c.1734+16949G>C (n.1734+16949G>C)
 gnomAD v4
3g.32997107C>TCA2299266GLB1c.1972G>A (p.Glu658Lys)
c.1579G>A (p.Glu527Lys)
c.1882G>A (p.Glu628Lys)
c.2116G>A (p.Glu706Lys)
c.1734+16949G>A (n.1734+16949G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.32997108A>CCA432960146GLB1c.1971T>G (p.Val657=)
c.1578T>G (p.Val526=)
c.1881T>G (p.Val627=)
c.2115T>G (p.Val705=)
c.1734+16948T>G (n.1734+16948T>G)
3g.32997108A>GCA432960147GLB1c.1971T>C (p.Val657=)
c.1578T>C (p.Val526=)
c.1881T>C (p.Val627=)
c.2115T>C (p.Val705=)
c.1734+16948T>C (n.1734+16948T>C)
3g.32997108A>TCA432960148GLB1c.1971T>A (p.Val657=)
c.1578T>A (p.Val526=)
c.1881T>A (p.Val627=)
c.2115T>A (p.Val705=)
c.1734+16948T>A (n.1734+16948T>A)
3g.32997109A>CCA352000040GLB1c.1970T>G (p.Val657Gly)
c.1577T>G (p.Val526Gly)
c.1880T>G (p.Val627Gly)
c.2114T>G (p.Val705Gly)
c.1734+16947T>G (n.1734+16947T>G)
3g.32997109A>GCA352000041GLB1c.1970T>C (p.Val657Ala)
c.1577T>C (p.Val526Ala)
c.1880T>C (p.Val627Ala)
c.2114T>C (p.Val705Ala)
c.1734+16947T>C (n.1734+16947T>C)
3g.32997109A>TCA352000042GLB1c.1970T>A (p.Val657Asp)
c.1577T>A (p.Val526Asp)
c.1880T>A (p.Val627Asp)
c.2114T>A (p.Val705Asp)
c.1734+16947T>A (n.1734+16947T>A)
3g.32997110C>ACA352000045GLB1c.1969G>T (p.Val657Phe)
c.1576G>T (p.Val526Phe)
c.1879G>T (p.Val627Phe)
c.2113G>T (p.Val705Phe)
c.1734+16946G>T (n.1734+16946G>T)
3g.32997110C=CA1355976905GLB1c.1969G= (p.Val657=)
c.1576G= (p.Val526=)
c.1879G= (p.Val627=)
c.2113G= (p.Val705=)
c.1734+16946G= (n.1734+16946G=)
3g.32997110C>GCA352000046GLB1c.1969G>C (p.Val657Leu)
c.1576G>C (p.Val526Leu)
c.1879G>C (p.Val627Leu)
c.2113G>C (p.Val705Leu)
c.1734+16946G>C (n.1734+16946G>C)
3g.32997110C>TCA352000043GLB1c.1969G>A (p.Val657Ile)
c.1576G>A (p.Val526Ile)
c.1879G>A (p.Val627Ile)
c.2113G>A (p.Val705Ile)
c.1734+16946G>A (n.1734+16946G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.32997111A>CCA432960151GLB1c.1968T>G (p.Pro656=)
c.1575T>G (p.Pro525=)
c.1878T>G (p.Pro626=)
c.2112T>G (p.Pro704=)
c.1734+16945T>G (n.1734+16945T>G)
3g.32997111A>GCA432960153GLB1c.1968T>C (p.Pro656=)
c.1575T>C (p.Pro525=)
c.1878T>C (p.Pro626=)
c.2112T>C (p.Pro704=)
c.1734+16945T>C (n.1734+16945T>C)
 gnomAD v4
3g.32997111A>TCA432960152GLB1c.1968T>A (p.Pro656=)
c.1575T>A (p.Pro525=)
c.1878T>A (p.Pro626=)
c.2112T>A (p.Pro704=)
c.1734+16945T>A (n.1734+16945T>A)
3g.32997112G>ACA352000047GLB1c.1967C>T (p.Pro656Leu)
c.1574C>T (p.Pro525Leu)
c.1877C>T (p.Pro626Leu)
c.2111C>T (p.Pro704Leu)
c.1734+16944C>T (n.1734+16944C>T)
 dbSNP
3g.32997112G>CCA352000048GLB1c.1967C>G (p.Pro656Arg)
c.1574C>G (p.Pro525Arg)
c.1877C>G (p.Pro626Arg)
c.2111C>G (p.Pro704Arg)
c.1734+16944C>G (n.1734+16944C>G)
3g.32997112G=CA1355976906GLB1c.1967C= (p.Pro656=)
c.1574C= (p.Pro525=)
c.1877C= (p.Pro626=)
c.2111C= (p.Pro704=)
c.1734+16944C= (n.1734+16944C=)
3g.32997112G>TCA352000049GLB1c.1967C>A (p.Pro656His)
c.1574C>A (p.Pro525His)
c.1877C>A (p.Pro626His)
c.2111C>A (p.Pro704His)
c.1734+16944C>A (n.1734+16944C>A)
3g.32997113G>ACA352000051GLB1c.1966C>T (p.Pro656Ser)
c.1573C>T (p.Pro525Ser)
c.1876C>T (p.Pro626Ser)
c.2110C>T (p.Pro704Ser)
c.1734+16943C>T (n.1734+16943C>T)
 gnomAD v4 COSMIC COSMIC
3g.32997113G>CCA352000056GLB1c.1966C>G (p.Pro656Ala)
c.1573C>G (p.Pro525Ala)
c.1876C>G (p.Pro626Ala)
c.2110C>G (p.Pro704Ala)
c.1734+16943C>G (n.1734+16943C>G)
3g.32997113G>TCA352000057GLB1c.1966C>A (p.Pro656Thr)
c.1573C>A (p.Pro525Thr)
c.1876C>A (p.Pro626Thr)
c.2110C>A (p.Pro704Thr)
c.1734+16943C>A (n.1734+16943C>A)
3g.32997114T>ACA352000058GLB1c.1965A>T (p.Lys655Asn)
c.1572A>T (p.Lys524Asn)
c.1875A>T (p.Lys625Asn)
c.2109A>T (p.Lys703Asn)
c.1734+16942A>T (n.1734+16942A>T)
3g.32997114T>CCA432960158GLB1c.1965A>G (p.Lys655=)
c.1572A>G (p.Lys524=)
c.1875A>G (p.Lys625=)
c.2109A>G (p.Lys703=)
c.1734+16942A>G (n.1734+16942A>G)
3g.32997114T>GCA352000060GLB1c.1965A>C (p.Lys655Asn)
c.1572A>C (p.Lys524Asn)
c.1875A>C (p.Lys625Asn)
c.2109A>C (p.Lys703Asn)
c.1734+16942A>C (n.1734+16942A>C)
3g.32997115T>ACA352000063GLB1c.1964A>T (p.Lys655Ile)
c.1571A>T (p.Lys524Ile)
c.1874A>T (p.Lys625Ile)
c.2108A>T (p.Lys703Ile)
c.1734+16941A>T (n.1734+16941A>T)
3g.32997115T>CCA72667115GLB1c.1964A>G (p.Lys655Arg)
c.1571A>G (p.Lys524Arg)
c.1874A>G (p.Lys625Arg)
c.2108A>G (p.Lys703Arg)
c.1734+16941A>G (n.1734+16941A>G)
 dbSNP
3g.32997115T>GCA352000065GLB1c.1964A>C (p.Lys655Thr)
c.1571A>C (p.Lys524Thr)
c.1874A>C (p.Lys625Thr)
c.2108A>C (p.Lys703Thr)
c.1734+16941A>C (n.1734+16941A>C)
3g.32997115T=CA1355976907GLB1c.1964A= (p.Lys655=)
c.1571A= (p.Lys524=)
c.1874A= (p.Lys625=)
c.2108A= (p.Lys703=)
c.1734+16941A= (n.1734+16941A=)
3g.32997116T>ACA352000067GLB1c.1963A>T (p.Lys655Ter)
c.1570A>T (p.Lys524Ter)
c.1873A>T (p.Lys625Ter)
c.2107A>T (p.Lys703Ter)
c.1734+16940A>T (n.1734+16940A>T)
3g.32997116T>CCA352000068GLB1c.1963A>G (p.Lys655Glu)
c.1570A>G (p.Lys524Glu)
c.1873A>G (p.Lys625Glu)
c.2107A>G (p.Lys703Glu)
c.1734+16940A>G (n.1734+16940A>G)
3g.32997116T>GCA352000066GLB1c.1963A>C (p.Lys655Gln)
c.1570A>C (p.Lys524Gln)
c.1873A>C (p.Lys625Gln)
c.2107A>C (p.Lys703Gln)
c.1734+16940A>C (n.1734+16940A>C)
3g.32997117G>ACA432960162GLB1c.1962C>T (p.Ser654=)
c.1569C>T (p.Ser523=)
c.1872C>T (p.Ser624=)
c.2106C>T (p.Ser702=)
c.1734+16939C>T (n.1734+16939C>T)
3g.32997117G>CCA432960163GLB1c.1962C>G (p.Ser654=)
c.1569C>G (p.Ser523=)
c.1872C>G (p.Ser624=)
c.2106C>G (p.Ser702=)
c.1734+16939C>G (n.1734+16939C>G)
3g.32997117G>TCA432960164GLB1c.1962C>A (p.Ser654=)
c.1569C>A (p.Ser523=)
c.1872C>A (p.Ser624=)
c.2106C>A (p.Ser702=)
c.1734+16939C>A (n.1734+16939C>A)
3g.32997118G>ACA2299267GLB1c.1961C>T (p.Ser654Phe)
c.1568C>T (p.Ser523Phe)
c.1871C>T (p.Ser624Phe)
c.2105C>T (p.Ser702Phe)
c.1734+16938C>T (n.1734+16938C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.32997118G>CCA352000070GLB1c.1961C>G (p.Ser654Cys)
c.1568C>G (p.Ser523Cys)
c.1871C>G (p.Ser624Cys)
c.2105C>G (p.Ser702Cys)
c.1734+16938C>G (n.1734+16938C>G)
3g.32997118G=CA1355976908GLB1c.1961C= (p.Ser654=)
c.1568C= (p.Ser523=)
c.1871C= (p.Ser624=)
c.2105C= (p.Ser702=)
c.1734+16938C= (n.1734+16938C=)
3g.32997118G>TCA352000072GLB1c.1961C>A (p.Ser654Tyr)
c.1568C>A (p.Ser523Tyr)
c.1871C>A (p.Ser624Tyr)
c.2105C>A (p.Ser702Tyr)
c.1734+16938C>A (n.1734+16938C>A)
3g.32997119A=CA1355976909GLB1c.1960T= (p.Ser654=)
c.1567T= (p.Ser523=)
c.1870T= (p.Ser624=)
c.2104T= (p.Ser702=)
c.1734+16937T= (n.1734+16937T=)
3g.32997119A>CCA352000073GLB1c.1960T>G (p.Ser654Ala)
c.1567T>G (p.Ser523Ala)
c.1870T>G (p.Ser624Ala)
c.2104T>G (p.Ser702Ala)
c.1734+16937T>G (n.1734+16937T>G)
3g.32997119A>GCA352000074GLB1c.1960T>C (p.Ser654Pro)
c.1567T>C (p.Ser523Pro)
c.1870T>C (p.Ser624Pro)
c.2104T>C (p.Ser702Pro)
c.1734+16937T>C (n.1734+16937T>C)
3g.32997119A>TCA352000075GLB1c.1960T>A (p.Ser654Thr)
c.1567T>A (p.Ser523Thr)
c.1870T>A (p.Ser624Thr)
c.2104T>A (p.Ser702Thr)
c.1734+16937T>A (n.1734+16937T>A)
 dbSNP
3g.32997120G>ACA432960167GLB1c.1959C>T (p.Pro653=)
c.1566C>T (p.Pro522=)
c.1869C>T (p.Pro623=)
c.2103C>T (p.Pro701=)
c.1734+16936C>T (n.1734+16936C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32997120G>CCA432960168GLB1c.1959C>G (p.Pro653=)
c.1566C>G (p.Pro522=)
c.1869C>G (p.Pro623=)
c.2103C>G (p.Pro701=)
c.1734+16936C>G (n.1734+16936C>G)
3g.32997120G=CA1355976910GLB1c.1959C= (p.Pro653=)
c.1566C= (p.Pro522=)
c.1869C= (p.Pro623=)
c.2103C= (p.Pro701=)
c.1734+16936C= (n.1734+16936C=)
3g.32997120G>TCA432960169GLB1c.1959C>A (p.Pro653=)
c.1566C>A (p.Pro522=)
c.1869C>A (p.Pro623=)
c.2103C>A (p.Pro701=)
c.1734+16936C>A (n.1734+16936C>A)
3g.32997122delCA2664926656GLB1c.1959del (p.Ser654ProfsTer?)
c.1566del (p.Ser523ProfsTer?)
c.1869del (p.Ser624ProfsTer?)
c.2103del (p.Ser702ProfsTer?)
c.1734+16936del (n.1734+16936del)
 gnomAD v4
3g.32997121G>ACA352000076GLB1c.1958C>T (p.Pro653Leu)
c.1565C>T (p.Pro522Leu)
c.1868C>T (p.Pro623Leu)
c.2102C>T (p.Pro701Leu)
c.1734+16935C>T (n.1734+16935C>T)
3g.32997121G>CCA352000082GLB1c.1958C>G (p.Pro653Arg)
c.1565C>G (p.Pro522Arg)
c.1868C>G (p.Pro623Arg)
c.2102C>G (p.Pro701Arg)
c.1734+16935C>G (n.1734+16935C>G)
3g.32997121G>TCA352000078GLB1c.1958C>A (p.Pro653His)
c.1565C>A (p.Pro522His)
c.1868C>A (p.Pro623His)
c.2102C>A (p.Pro701His)
c.1734+16935C>A (n.1734+16935C>A)
3g.32997122G>ACA352000083GLB1c.1957C>T (p.Pro653Ser)
c.1564C>T (p.Pro522Ser)
c.1867C>T (p.Pro623Ser)
c.2101C>T (p.Pro701Ser)
c.1734+16934C>T (n.1734+16934C>T)
 COSMIC COSMIC
3g.32997122G>CCA352000086GLB1c.1957C>G (p.Pro653Ala)
c.1564C>G (p.Pro522Ala)
c.1867C>G (p.Pro623Ala)
c.2101C>G (p.Pro701Ala)
c.1734+16934C>G (n.1734+16934C>G)
3g.32997122G>TCA352000090GLB1c.1957C>A (p.Pro653Thr)
c.1564C>A (p.Pro522Thr)
c.1867C>A (p.Pro623Thr)
c.2101C>A (p.Pro701Thr)
c.1734+16934C>A (n.1734+16934C>A)
3g.32997123A>CCA352000102GLB1c.1956T>G (p.His652Gln)
c.1563T>G (p.His521Gln)
c.1866T>G (p.His622Gln)
c.2100T>G (p.His700Gln)
c.1734+16933T>G (n.1734+16933T>G)
3g.32997123A>GCA432960171GLB1c.1956T>C (p.His652=)
c.1563T>C (p.His521=)
c.1866T>C (p.His622=)
c.2100T>C (p.His700=)
c.1734+16933T>C (n.1734+16933T>C)
3g.32997123A>TCA352000104GLB1c.1956T>A (p.His652Gln)
c.1563T>A (p.His521Gln)
c.1866T>A (p.His622Gln)
c.2100T>A (p.His700Gln)
c.1734+16933T>A (n.1734+16933T>A)
3g.32997124T>ACA352000107GLB1c.1955A>T (p.His652Leu)
c.1562A>T (p.His521Leu)
c.1865A>T (p.His622Leu)
c.2099A>T (p.His700Leu)
c.1734+16932A>T (n.1734+16932A>T)
3g.32997124T>CCA352000108GLB1c.1955A>G (p.His652Arg)
c.1562A>G (p.His521Arg)
c.1865A>G (p.His622Arg)
c.2099A>G (p.His700Arg)
c.1734+16932A>G (n.1734+16932A>G)
3g.32997124T>GCA352000106GLB1c.1955A>C (p.His652Pro)
c.1562A>C (p.His521Pro)
c.1865A>C (p.His622Pro)
c.2099A>C (p.His700Pro)
c.1734+16932A>C (n.1734+16932A>C)
3g.32997125G>ACA352000113GLB1c.1954C>T (p.His652Tyr)
c.1561C>T (p.His521Tyr)
c.1864C>T (p.His622Tyr)
c.2098C>T (p.His700Tyr)
c.1734+16931C>T (n.1734+16931C>T)
3g.32997125G>CCA352000110GLB1c.1954C>G (p.His652Asp)
c.1561C>G (p.His521Asp)
c.1864C>G (p.His622Asp)
c.2098C>G (p.His700Asp)
c.1734+16931C>G (n.1734+16931C>G)
3g.32997125G>TCA352000112GLB1c.1954C>A (p.His652Asn)
c.1561C>A (p.His521Asn)
c.1864C>A (p.His622Asn)
c.2098C>A (p.His700Asn)
c.1734+16931C>A (n.1734+16931C>A)
3g.32997126A>CCA352000114GLB1c.1953T>G (p.Asp651Glu)
c.1560T>G (p.Asp520Glu)
c.1863T>G (p.Asp621Glu)
c.2097T>G (p.Asp699Glu)
c.1734+16930T>G (n.1734+16930T>G)
3g.32997126A>GCA432960173GLB1c.1953T>C (p.Asp651=)
c.1560T>C (p.Asp520=)
c.1863T>C (p.Asp621=)
c.2097T>C (p.Asp699=)
c.1734+16930T>C (n.1734+16930T>C)
3g.32997126A>TCA352000116GLB1c.1953T>A (p.Asp651Glu)
c.1560T>A (p.Asp520Glu)
c.1863T>A (p.Asp621Glu)
c.2097T>A (p.Asp699Glu)
c.1734+16930T>A (n.1734+16930T>A)
3g.32997127T>ACA352000120GLB1c.1952A>T (p.Asp651Val)
c.1559A>T (p.Asp520Val)
c.1862A>T (p.Asp621Val)
c.2096A>T (p.Asp699Val)
c.1734+16929A>T (n.1734+16929A>T)
3g.32997127T>CCA352000122GLB1c.1952A>G (p.Asp651Gly)
c.1559A>G (p.Asp520Gly)
c.1862A>G (p.Asp621Gly)
c.2096A>G (p.Asp699Gly)
c.1734+16929A>G (n.1734+16929A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.32997127T>GCA352000124GLB1c.1952A>C (p.Asp651Ala)
c.1559A>C (p.Asp520Ala)
c.1862A>C (p.Asp621Ala)
c.2096A>C (p.Asp699Ala)
c.1734+16929A>C (n.1734+16929A>C)
3g.32997127T=CA1355976911GLB1c.1952A= (p.Asp651=)
c.1559A= (p.Asp520=)
c.1862A= (p.Asp621=)
c.2096A= (p.Asp699=)
c.1734+16929A= (n.1734+16929A=)
3g.32997128C>ACA352000126GLB1c.1951G>T (p.Asp651Tyr)
c.1558G>T (p.Asp520Tyr)
c.1861G>T (p.Asp621Tyr)
c.2095G>T (p.Asp699Tyr)
c.1734+16928G>T (n.1734+16928G>T)
3g.32997128C=CA1355976912GLB1c.1951G= (p.Asp651=)
c.1558G= (p.Asp520=)
c.1861G= (p.Asp621=)
c.2095G= (p.Asp699=)
c.1734+16928G= (n.1734+16928G=)
3g.32997128C>GCA2299268GLB1c.1951G>C (p.Asp651His)
c.1558G>C (p.Asp520His)
c.1861G>C (p.Asp621His)
c.2095G>C (p.Asp699His)
c.1734+16928G>C (n.1734+16928G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.32997128C>TCA2299269GLB1c.1951G>A (p.Asp651Asn)
c.1558G>A (p.Asp520Asn)
c.1861G>A (p.Asp621Asn)
c.2095G>A (p.Asp699Asn)
c.1734+16928G>A (n.1734+16928G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.32997129G>ACA2299270GLB1c.1950C>T (p.Tyr650=)
c.1557C>T (p.Tyr519=)
c.1860C>T (p.Tyr620=)
c.2094C>T (p.Tyr698=)
c.1734+16927C>T (n.1734+16927C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997129G>CCA352000132GLB1c.1950C>G (p.Tyr650Ter)
c.1557C>G (p.Tyr519Ter)
c.1860C>G (p.Tyr620Ter)
c.2094C>G (p.Tyr698Ter)
c.1734+16927C>G (n.1734+16927C>G)
3g.32997129G=CA1355976913GLB1c.1950C= (p.Tyr650=)
c.1557C= (p.Tyr519=)
c.1860C= (p.Tyr620=)
c.2094C= (p.Tyr698=)
c.1734+16927C= (n.1734+16927C=)
3g.32997129G>TCA352000134GLB1c.1950C>A (p.Tyr650Ter)
c.1557C>A (p.Tyr519Ter)
c.1860C>A (p.Tyr620Ter)
c.2094C>A (p.Tyr698Ter)
c.1734+16927C>A (n.1734+16927C>A)
3g.32997130T>ACA352000141GLB1c.1949A>T (p.Tyr650Phe)
c.1556A>T (p.Tyr519Phe)
c.1859A>T (p.Tyr620Phe)
c.2093A>T (p.Tyr698Phe)
c.1734+16926A>T (n.1734+16926A>T)
3g.32997130T>CCA352000136GLB1c.1949A>G (p.Tyr650Cys)
c.1556A>G (p.Tyr519Cys)
c.1859A>G (p.Tyr620Cys)
c.2093A>G (p.Tyr698Cys)
c.1734+16926A>G (n.1734+16926A>G)
3g.32997130T>GCA352000139GLB1c.1949A>C (p.Tyr650Ser)
c.1556A>C (p.Tyr519Ser)
c.1859A>C (p.Tyr620Ser)
c.2093A>C (p.Tyr698Ser)
c.1734+16926A>C (n.1734+16926A>C)
3g.32997131A>CCA352000142GLB1c.1948T>G (p.Tyr650Asp)
c.1555T>G (p.Tyr519Asp)
c.1858T>G (p.Tyr620Asp)
c.2092T>G (p.Tyr698Asp)
c.1734+16925T>G (n.1734+16925T>G)
3g.32997131A>GCA352000143GLB1c.1948T>C (p.Tyr650His)
c.1555T>C (p.Tyr519His)
c.1858T>C (p.Tyr620His)
c.2092T>C (p.Tyr698His)
c.1734+16925T>C (n.1734+16925T>C)
3g.32997131A>TCA352000144GLB1c.1948T>A (p.Tyr650Asn)
c.1555T>A (p.Tyr519Asn)
c.1858T>A (p.Tyr620Asn)
c.2092T>A (p.Tyr698Asn)
c.1734+16925T>A (n.1734+16925T>A)
3g.32997132G>ACA432960179GLB1c.1947C>T (p.Thr649=)
c.1554C>T (p.Thr518=)
c.1857C>T (p.Thr619=)
c.2091C>T (p.Thr697=)
c.1734+16924C>T (n.1734+16924C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.32997132G>CCA432960180GLB1c.1947C>G (p.Thr649=)
c.1554C>G (p.Thr518=)
c.1857C>G (p.Thr619=)
c.2091C>G (p.Thr697=)
c.1734+16924C>G (n.1734+16924C>G)
3g.32997132G=CA1355976914GLB1c.1947C= (p.Thr649=)
c.1554C= (p.Thr518=)
c.1857C= (p.Thr619=)
c.2091C= (p.Thr697=)
c.1734+16924C= (n.1734+16924C=)
3g.32997132G>TCA432960181GLB1c.1947C>A (p.Thr649=)
c.1554C>A (p.Thr518=)
c.1857C>A (p.Thr619=)
c.2091C>A (p.Thr697=)
c.1734+16924C>A (n.1734+16924C>A)
3g.32997133G>ACA352000145GLB1c.1946C>T (p.Thr649Ile)
c.1553C>T (p.Thr518Ile)
c.1856C>T (p.Thr619Ile)
c.2090C>T (p.Thr697Ile)
c.1734+16923C>T (n.1734+16923C>T)
3g.32997133G>CCA352000146GLB1c.1946C>G (p.Thr649Ser)
c.1553C>G (p.Thr518Ser)
c.1856C>G (p.Thr619Ser)
c.2090C>G (p.Thr697Ser)
c.1734+16923C>G (n.1734+16923C>G)
3g.32997133G>TCA352000147GLB1c.1946C>A (p.Thr649Asn)
c.1553C>A (p.Thr518Asn)
c.1856C>A (p.Thr619Asn)
c.2090C>A (p.Thr697Asn)
c.1734+16923C>A (n.1734+16923C>A)
3g.32997134T>ACA352000150GLB1c.1945A>T (p.Thr649Ser)
c.1552A>T (p.Thr518Ser)
c.1855A>T (p.Thr619Ser)
c.2089A>T (p.Thr697Ser)
c.1734+16922A>T (n.1734+16922A>T)
3g.32997134T>CCA352000152GLB1c.1945A>G (p.Thr649Ala)
c.1552A>G (p.Thr518Ala)
c.1855A>G (p.Thr619Ala)
c.2089A>G (p.Thr697Ala)
c.1734+16922A>G (n.1734+16922A>G)
3g.32997134T>GCA352000153GLB1c.1945A>C (p.Thr649Pro)
c.1552A>C (p.Thr518Pro)
c.1855A>C (p.Thr619Pro)
c.2089A>C (p.Thr697Pro)
c.1734+16922A>C (n.1734+16922A>C)
 gnomAD v4
3g.32997135C>ACA432960185GLB1c.1944G>T (p.Val648=)
c.1551G>T (p.Val517=)
c.1854G>T (p.Val618=)
c.2088G>T (p.Val696=)
c.1734+16921G>T (n.1734+16921G>T)
3g.32997135C>GCA432960186GLB1c.1944G>C (p.Val648=)
c.1551G>C (p.Val517=)
c.1854G>C (p.Val618=)
c.2088G>C (p.Val696=)
c.1734+16921G>C (n.1734+16921G>C)
3g.32997135C>TCA432960187GLB1c.1944G>A (p.Val648=)
c.1551G>A (p.Val517=)
c.1854G>A (p.Val618=)
c.2088G>A (p.Val696=)
c.1734+16921G>A (n.1734+16921G>A)
3g.32997136A>CCA352000154GLB1c.1943T>G (p.Val648Gly)
c.1550T>G (p.Val517Gly)
c.1853T>G (p.Val618Gly)
c.2087T>G (p.Val696Gly)
c.1734+16920T>G (n.1734+16920T>G)
3g.32997136A>GCA352000155GLB1c.1943T>C (p.Val648Ala)
c.1550T>C (p.Val517Ala)
c.1853T>C (p.Val618Ala)
c.2087T>C (p.Val696Ala)
c.1734+16920T>C (n.1734+16920T>C)
3g.32997136A>TCA352000156GLB1c.1943T>A (p.Val648Glu)
c.1550T>A (p.Val517Glu)
c.1853T>A (p.Val618Glu)
c.2087T>A (p.Val696Glu)
c.1734+16920T>A (n.1734+16920T>A)
3g.32997137C>ACA352000159GLB1c.1942G>T (p.Val648Leu)
c.1549G>T (p.Val517Leu)
c.1852G>T (p.Val618Leu)
c.2086G>T (p.Val696Leu)
c.1734+16919G>T (n.1734+16919G>T)
3g.32997137C>GCA352000158GLB1c.1942G>C (p.Val648Leu)
c.1549G>C (p.Val517Leu)
c.1852G>C (p.Val618Leu)
c.2086G>C (p.Val696Leu)
c.1734+16919G>C (n.1734+16919G>C)
3g.32997137C>TCA352000157GLB1c.1942G>A (p.Val648Met)
c.1549G>A (p.Val517Met)
c.1852G>A (p.Val618Met)
c.2086G>A (p.Val696Met)
c.1734+16919G>A (n.1734+16919G>A)
3g.32997138A>CCA432960191GLB1c.1941T>G (p.Ser647=)
c.1548T>G (p.Ser516=)
c.1851T>G (p.Ser617=)
c.2085T>G (p.Ser695=)
c.1734+16918T>G (n.1734+16918T>G)
3g.32997138A>GCA432960192GLB1c.1941T>C (p.Ser647=)
c.1548T>C (p.Ser516=)
c.1851T>C (p.Ser617=)
c.2085T>C (p.Ser695=)
c.1734+16918T>C (n.1734+16918T>C)
3g.32997138A>TCA432960193GLB1c.1941T>A (p.Ser647=)
c.1548T>A (p.Ser516=)
c.1851T>A (p.Ser617=)
c.2085T>A (p.Ser695=)
c.1734+16918T>A (n.1734+16918T>A)
3g.32997139G>ACA352000160GLB1c.1940C>T (p.Ser647Phe)
c.1547C>T (p.Ser516Phe)
c.1850C>T (p.Ser617Phe)
c.2084C>T (p.Ser695Phe)
c.1734+16917C>T (n.1734+16917C>T)
 gnomAD v4
3g.32997139G>CCA352000164GLB1c.1940C>G (p.Ser647Cys)
c.1547C>G (p.Ser516Cys)
c.1850C>G (p.Ser617Cys)
c.2084C>G (p.Ser695Cys)
c.1734+16917C>G (n.1734+16917C>G)
3g.32997139G>TCA352000166GLB1c.1940C>A (p.Ser647Tyr)
c.1547C>A (p.Ser516Tyr)
c.1850C>A (p.Ser617Tyr)
c.2084C>A (p.Ser695Tyr)
c.1734+16917C>A (n.1734+16917C>A)
3g.32997140A=CA1355976915GLB1c.1939T= (p.Ser647=)
c.1546T= (p.Ser516=)
c.1849T= (p.Ser617=)
c.2083T= (p.Ser695=)
c.1734+16916T= (n.1734+16916T=)
3g.32997140A>CCA352000171GLB1c.1939T>G (p.Ser647Ala)
c.1546T>G (p.Ser516Ala)
c.1849T>G (p.Ser617Ala)
c.2083T>G (p.Ser695Ala)
c.1734+16916T>G (n.1734+16916T>G)
3g.32997140A>GCA352000173GLB1c.1939T>C (p.Ser647Pro)
c.1546T>C (p.Ser516Pro)
c.1849T>C (p.Ser617Pro)
c.2083T>C (p.Ser695Pro)
c.1734+16916T>C (n.1734+16916T>C)
 dbSNP
3g.32997140A>TCA352000176GLB1c.1939T>A (p.Ser647Thr)
c.1546T>A (p.Ser516Thr)
c.1849T>A (p.Ser617Thr)
c.2083T>A (p.Ser695Thr)
c.1734+16916T>A (n.1734+16916T>A)
3g.32997141T>ACA432960195GLB1c.1938A>T (p.Ser646=)
c.1545A>T (p.Ser515=)
c.1848A>T (p.Ser616=)
c.2082A>T (p.Ser694=)
c.1734+16915A>T (n.1734+16915A>T)
3g.32997141T>CCA2299271GLB1c.1938A>G (p.Ser646=)
c.1545A>G (p.Ser515=)
c.1848A>G (p.Ser616=)
c.2082A>G (p.Ser694=)
c.1734+16915A>G (n.1734+16915A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997141T>GCA432960197GLB1c.1938A>C (p.Ser646=)
c.1545A>C (p.Ser515=)
c.1848A>C (p.Ser616=)
c.2082A>C (p.Ser694=)
c.1734+16915A>C (n.1734+16915A>C)
3g.32997141T=CA1355976916GLB1c.1938A= (p.Ser646=)
c.1545A= (p.Ser515=)
c.1848A= (p.Ser616=)
c.2082A= (p.Ser694=)
c.1734+16915A= (n.1734+16915A=)
3g.32997142G>ACA352000185GLB1c.1937C>T (p.Ser646Leu)
c.1544C>T (p.Ser515Leu)
c.1847C>T (p.Ser616Leu)
c.2081C>T (p.Ser694Leu)
c.1734+16914C>T (n.1734+16914C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.32997142G>CCA352000186GLB1c.1937C>G (p.Ser646Ter)
c.1544C>G (p.Ser515Ter)
c.1847C>G (p.Ser616Ter)
c.2081C>G (p.Ser694Ter)
c.1734+16914C>G (n.1734+16914C>G)
 gnomAD v4
3g.32997142G=CA1355976917GLB1c.1937C= (p.Ser646=)
c.1544C= (p.Ser515=)
c.1847C= (p.Ser616=)
c.2081C= (p.Ser694=)
c.1734+16914C= (n.1734+16914C=)
3g.32997142G>TCA352000192GLB1c.1937C>A (p.Ser646Ter)
c.1544C>A (p.Ser515Ter)
c.1847C>A (p.Ser616Ter)
c.2081C>A (p.Ser694Ter)
c.1734+16914C>A (n.1734+16914C>A)
3g.32997143A>CCA352000194GLB1c.1936T>G (p.Ser646Ala)
c.1543T>G (p.Ser515Ala)
c.1846T>G (p.Ser616Ala)
c.2080T>G (p.Ser694Ala)
c.1734+16913T>G (n.1734+16913T>G)
3g.32997143A>GCA352000195GLB1c.1936T>C (p.Ser646Pro)
c.1543T>C (p.Ser515Pro)
c.1846T>C (p.Ser616Pro)
c.2080T>C (p.Ser694Pro)
c.1734+16913T>C (n.1734+16913T>C)
3g.32997143A>TCA352000196GLB1c.1936T>A (p.Ser646Thr)
c.1543T>A (p.Ser515Thr)
c.1846T>A (p.Ser616Thr)
c.2080T>A (p.Ser694Thr)
c.1734+16913T>A (n.1734+16913T>A)
3g.32997144G>ACA432960199GLB1c.1935C>T (p.Gly645=)
c.1542C>T (p.Gly514=)
c.1845C>T (p.Gly615=)
c.2079C>T (p.Gly693=)
c.1734+16912C>T (n.1734+16912C>T)
3g.32997144G>CCA432960200GLB1c.1935C>G (p.Gly645=)
c.1542C>G (p.Gly514=)
c.1845C>G (p.Gly615=)
c.2079C>G (p.Gly693=)
c.1734+16912C>G (n.1734+16912C>G)
3g.32997144G=CA1355976918GLB1c.1935C= (p.Gly645=)
c.1542C= (p.Gly514=)
c.1845C= (p.Gly615=)
c.2079C= (p.Gly693=)
c.1734+16912C= (n.1734+16912C=)
3g.32997144G>TCA432960201GLB1c.1935C>A (p.Gly645=)
c.1542C>A (p.Gly514=)
c.1845C>A (p.Gly615=)
c.2079C>A (p.Gly693=)
c.1734+16912C>A (n.1734+16912C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.32997145C>ACA352000198GLB1c.1934G>T (p.Gly645Val)
c.1541G>T (p.Gly514Val)
c.1844G>T (p.Gly615Val)
c.2078G>T (p.Gly693Val)
c.1734+16911G>T (n.1734+16911G>T)
3g.32997145C>GCA352000199GLB1c.1934G>C (p.Gly645Ala)
c.1541G>C (p.Gly514Ala)
c.1844G>C (p.Gly615Ala)
c.2078G>C (p.Gly693Ala)
c.1734+16911G>C (n.1734+16911G>C)
3g.32997145C>TCA352000197GLB1c.1934G>A (p.Gly645Asp)
c.1541G>A (p.Gly514Asp)
c.1844G>A (p.Gly615Asp)
c.2078G>A (p.Gly693Asp)
c.1734+16911G>A (n.1734+16911G>A)
3g.32997146C>ACA352000200GLB1c.1933G>T (p.Gly645Cys)
c.1540G>T (p.Gly514Cys)
c.1843G>T (p.Gly615Cys)
c.2077G>T (p.Gly693Cys)
c.1734+16910G>T (n.1734+16910G>T)
3g.32997146C>GCA352000201GLB1c.1933G>C (p.Gly645Arg)
c.1540G>C (p.Gly514Arg)
c.1843G>C (p.Gly615Arg)
c.2077G>C (p.Gly693Arg)
c.1734+16910G>C (n.1734+16910G>C)
3g.32997146C>TCA352000202GLB1c.1933G>A (p.Gly645Ser)
c.1540G>A (p.Gly514Ser)
c.1843G>A (p.Gly615Ser)
c.2077G>A (p.Gly693Ser)
c.1734+16910G>A (n.1734+16910G>A)
3g.32997147A>CCA352000204GLB1c.1932T>G (p.Ile644Met)
c.1539T>G (p.Ile513Met)
c.1842T>G (p.Ile614Met)
c.2076T>G (p.Ile692Met)
c.1734+16909T>G (n.1734+16909T>G)
3g.32997147A>GCA432960206GLB1c.1932T>C (p.Ile644=)
c.1539T>C (p.Ile513=)
c.1842T>C (p.Ile614=)
c.2076T>C (p.Ile692=)
c.1734+16909T>C (n.1734+16909T>C)
3g.32997147A>TCA432960207GLB1c.1932T>A (p.Ile644=)
c.1539T>A (p.Ile513=)
c.1842T>A (p.Ile614=)
c.2076T>A (p.Ile692=)
c.1734+16909T>A (n.1734+16909T>A)
3g.32997148A=CA1355976919GLB1c.1931T= (p.Ile644=)
c.1538T= (p.Ile513=)
c.1841T= (p.Ile614=)
c.2075T= (p.Ile692=)
c.1734+16908T= (n.1734+16908T=)
3g.32997148A>CCA352000207GLB1c.1931T>G (p.Ile644Ser)
c.1538T>G (p.Ile513Ser)
c.1841T>G (p.Ile614Ser)
c.2075T>G (p.Ile692Ser)
c.1734+16908T>G (n.1734+16908T>G)
3g.32997148A>GCA2299272GLB1c.1931T>C (p.Ile644Thr)
c.1538T>C (p.Ile513Thr)
c.1841T>C (p.Ile614Thr)
c.2075T>C (p.Ile692Thr)
c.1734+16908T>C (n.1734+16908T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.32997148A>TCA352000205GLB1c.1931T>A (p.Ile644Asn)
c.1538T>A (p.Ile513Asn)
c.1841T>A (p.Ile614Asn)
c.2075T>A (p.Ile692Asn)
c.1734+16908T>A (n.1734+16908T>A)
3g.32997149T>ACA352000212GLB1c.1930A>T (p.Ile644Phe)
c.1537A>T (p.Ile513Phe)
c.1840A>T (p.Ile614Phe)
c.2074A>T (p.Ile692Phe)
c.1734+16907A>T (n.1734+16907A>T)
3g.32997149T>CCA352000214GLB1c.1930A>G (p.Ile644Val)
c.1537A>G (p.Ile513Val)
c.1840A>G (p.Ile614Val)
c.2074A>G (p.Ile692Val)
c.1734+16907A>G (n.1734+16907A>G)
3g.32997149T>GCA352000216GLB1c.1930A>C (p.Ile644Leu)
c.1537A>C (p.Ile513Leu)
c.1840A>C (p.Ile614Leu)
c.2074A>C (p.Ile692Leu)
c.1734+16907A>C (n.1734+16907A>C)
3g.32997150A>CCA432960211GLB1c.1929T>G (p.Val643=)
c.1536T>G (p.Val512=)
c.1839T>G (p.Val613=)
c.2073T>G (p.Val691=)
c.1734+16906T>G (n.1734+16906T>G)
3g.32997150A>GCA432960213GLB1c.1929T>C (p.Val643=)
c.1536T>C (p.Val512=)
c.1839T>C (p.Val613=)
c.2073T>C (p.Val691=)
c.1734+16906T>C (n.1734+16906T>C)
3g.32997150A>TCA432960214GLB1c.1929T>A (p.Val643=)
c.1536T>A (p.Val512=)
c.1839T>A (p.Val613=)
c.2073T>A (p.Val691=)
c.1734+16906T>A (n.1734+16906T>A)
3g.32997151A>CCA352000218GLB1c.1928T>G (p.Val643Gly)
c.1535T>G (p.Val512Gly)
c.1838T>G (p.Val613Gly)
c.2072T>G (p.Val691Gly)
c.1734+16905T>G (n.1734+16905T>G)
3g.32997151A>GCA352000220GLB1c.1928T>C (p.Val643Ala)
c.1535T>C (p.Val512Ala)
c.1838T>C (p.Val613Ala)
c.2072T>C (p.Val691Ala)
c.1734+16905T>C (n.1734+16905T>C)
3g.32997151A>TCA352000222GLB1c.1928T>A (p.Val643Asp)
c.1535T>A (p.Val512Asp)
c.1838T>A (p.Val613Asp)
c.2072T>A (p.Val691Asp)
c.1734+16905T>A (n.1734+16905T>A)
3g.32997152C>ACA352000225GLB1c.1927G>T (p.Val643Phe)
c.1534G>T (p.Val512Phe)
c.1837G>T (p.Val613Phe)
c.2071G>T (p.Val691Phe)
c.1734+16904G>T (n.1734+16904G>T)
 gnomAD v4
3g.32997152C>GCA352000229GLB1c.1927G>C (p.Val643Leu)
c.1534G>C (p.Val512Leu)
c.1837G>C (p.Val613Leu)
c.2071G>C (p.Val691Leu)
c.1734+16904G>C (n.1734+16904G>C)
3g.32997152C>TCA352000227GLB1c.1927G>A (p.Val643Ile)
c.1534G>A (p.Val512Ile)
c.1837G>A (p.Val613Ile)
c.2071G>A (p.Val691Ile)
c.1734+16904G>A (n.1734+16904G>A)
3g.32997153T>ACA432960219GLB1c.1926A>T (p.Pro642=)
c.1533A>T (p.Pro511=)
c.1836A>T (p.Pro612=)
c.2070A>T (p.Pro690=)
c.1734+16903A>T (n.1734+16903A>T)
3g.32997153T>CCA432960220GLB1c.1926A>G (p.Pro642=)
c.1533A>G (p.Pro511=)
c.1836A>G (p.Pro612=)
c.2070A>G (p.Pro690=)
c.1734+16903A>G (n.1734+16903A>G)
3g.32997153T>GCA432960218GLB1c.1926A>C (p.Pro642=)
c.1533A>C (p.Pro511=)
c.1836A>C (p.Pro612=)
c.2070A>C (p.Pro690=)
c.1734+16903A>C (n.1734+16903A>C)
3g.32997154G>ACA352000231GLB1c.1925C>T (p.Pro642Leu)
c.1532C>T (p.Pro511Leu)
c.1835C>T (p.Pro612Leu)
c.2069C>T (p.Pro690Leu)
c.1734+16902C>T (n.1734+16902C>T)
3g.32997154G>CCA352000235GLB1c.1925C>G (p.Pro642Arg)
c.1532C>G (p.Pro511Arg)
c.1835C>G (p.Pro612Arg)
c.2069C>G (p.Pro690Arg)
c.1734+16902C>G (n.1734+16902C>G)
3g.32997154G>TCA352000233GLB1c.1925C>A (p.Pro642Gln)
c.1532C>A (p.Pro511Gln)
c.1835C>A (p.Pro612Gln)
c.2069C>A (p.Pro690Gln)
c.1734+16902C>A (n.1734+16902C>A)
3g.32997155delCA2664926657GLB1c.1925del (p.Pro642GlnfsTer7)
c.1532del (p.Pro511GlnfsTer7)
c.1835del (p.Pro612GlnfsTer7)
c.2069del (p.Pro690GlnfsTer7)
c.1734+16902del (n.1734+16902del)
 gnomAD v4
3g.32997155G>ACA72667151GLB1c.1924C>T (p.Pro642Ser)
c.1531C>T (p.Pro511Ser)
c.1834C>T (p.Pro612Ser)
c.2068C>T (p.Pro690Ser)
c.1734+16901C>T (n.1734+16901C>T)
 dbSNP gnomAD v4
3g.32997155G>CCA352000241GLB1c.1924C>G (p.Pro642Ala)
c.1531C>G (p.Pro511Ala)
c.1834C>G (p.Pro612Ala)
c.2068C>G (p.Pro690Ala)
c.1734+16901C>G (n.1734+16901C>G)
3g.32997155G=CA1355976920GLB1c.1924C= (p.Pro642=)
c.1531C= (p.Pro511=)
c.1834C= (p.Pro612=)
c.2068C= (p.Pro690=)
c.1734+16901C= (n.1734+16901C=)
3g.32997155G>TCA352000239GLB1c.1924C>A (p.Pro642Thr)
c.1531C>A (p.Pro511Thr)
c.1834C>A (p.Pro612Thr)
c.2068C>A (p.Pro690Thr)
c.1734+16901C>A (n.1734+16901C>A)
 gnomAD v4
3g.32997156C>ACA352000243GLB1c.1923G>T (p.Arg641Ser)
c.1530G>T (p.Arg510Ser)
c.1833G>T (p.Arg611Ser)
c.2067G>T (p.Arg689Ser)
c.1734+16900G>T (n.1734+16900G>T)
3g.32997156C>GCA352000246GLB1c.1923G>C (p.Arg641Ser)
c.1530G>C (p.Arg510Ser)
c.1833G>C (p.Arg611Ser)
c.2067G>C (p.Arg689Ser)
c.1734+16900G>C (n.1734+16900G>C)
3g.32997156C>TCA432960224GLB1c.1923G>A (p.Arg641=)
c.1530G>A (p.Arg510=)
c.1833G>A (p.Arg611=)
c.2067G>A (p.Arg689=)
c.1734+16900G>A (n.1734+16900G>A)
3g.32997157C>ACA352000247GLB1c.1922G>T (p.Arg641Met)
c.1529G>T (p.Arg510Met)
c.1832G>T (p.Arg611Met)
c.2066G>T (p.Arg689Met)
c.1734+16899G>T (n.1734+16899G>T)
3g.32997157C>GCA352000251GLB1c.1922G>C (p.Arg641Thr)
c.1529G>C (p.Arg510Thr)
c.1832G>C (p.Arg611Thr)
c.2066G>C (p.Arg689Thr)
c.1734+16899G>C (n.1734+16899G>C)
3g.32997157C>TCA352000249GLB1c.1922G>A (p.Arg641Lys)
c.1529G>A (p.Arg510Lys)
c.1832G>A (p.Arg611Lys)
c.2066G>A (p.Arg689Lys)
c.1734+16899G>A (n.1734+16899G>A)
3g.32997158T>ACA352000253GLB1c.1921A>T (p.Arg641Trp)
c.1528A>T (p.Arg510Trp)
c.1831A>T (p.Arg611Trp)
c.2065A>T (p.Arg689Trp)
c.1734+16898A>T (n.1734+16898A>T)
3g.32997158T>CCA352000255GLB1c.1921A>G (p.Arg641Gly)
c.1528A>G (p.Arg510Gly)
c.1831A>G (p.Arg611Gly)
c.2065A>G (p.Arg689Gly)
c.1734+16898A>G (n.1734+16898A>G)
 gnomAD v4
3g.32997158T>GCA432960226GLB1c.1921A>C (p.Arg641=)
c.1528A>C (p.Arg510=)
c.1831A>C (p.Arg611=)
c.2065A>C (p.Arg689=)
c.1734+16898A>C (n.1734+16898A>C)
3g.32997159G>ACA432960228GLB1c.1920C>T (p.Asp640=)
c.1527C>T (p.Asp509=)
c.1830C>T (p.Asp610=)
c.2064C>T (p.Asp688=)
c.1734+16897C>T (n.1734+16897C>T)
3g.32997159G>CCA352000257GLB1c.1920C>G (p.Asp640Glu)
c.1527C>G (p.Asp509Glu)
c.1830C>G (p.Asp610Glu)
c.2064C>G (p.Asp688Glu)
c.1734+16897C>G (n.1734+16897C>G)
3g.32997159G>TCA352000259GLB1c.1920C>A (p.Asp640Glu)
c.1527C>A (p.Asp509Glu)
c.1830C>A (p.Asp610Glu)
c.2064C>A (p.Asp688Glu)
c.1734+16897C>A (n.1734+16897C>A)
3g.32997160T>ACA352000261GLB1c.1919A>T (p.Asp640Val)
c.1526A>T (p.Asp509Val)
c.1829A>T (p.Asp610Val)
c.2063A>T (p.Asp688Val)
c.1734+16896A>T (n.1734+16896A>T)
 gnomAD v4
3g.32997160T>CCA352000263GLB1c.1919A>G (p.Asp640Gly)
c.1526A>G (p.Asp509Gly)
c.1829A>G (p.Asp610Gly)
c.2063A>G (p.Asp688Gly)
c.1734+16896A>G (n.1734+16896A>G)
 gnomAD v4
3g.32997160T>GCA352000265GLB1c.1919A>C (p.Asp640Ala)
c.1526A>C (p.Asp509Ala)
c.1829A>C (p.Asp610Ala)
c.2063A>C (p.Asp688Ala)
c.1734+16896A>C (n.1734+16896A>C)
3g.32997161C>ACA220719GLB1c.1918G>T (p.Asp640Tyr)
c.1525G>T (p.Asp509Tyr)
c.1828G>T (p.Asp610Tyr)
c.2062G>T (p.Asp688Tyr)
c.1734+16895G>T (n.1734+16895G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32997161C=CA1355976921GLB1c.1918G= (p.Asp640=)
c.1525G= (p.Asp509=)
c.1828G= (p.Asp610=)
c.2062G= (p.Asp688=)
c.1734+16895G= (n.1734+16895G=)
3g.32997161C>GCA352000267GLB1c.1918G>C (p.Asp640His)
c.1525G>C (p.Asp509His)
c.1828G>C (p.Asp610His)
c.2062G>C (p.Asp688His)
c.1734+16895G>C (n.1734+16895G>C)
3g.32997161C>TCA352000268GLB1c.1918G>A (p.Asp640Asn)
c.1525G>A (p.Asp509Asn)
c.1828G>A (p.Asp610Asn)
c.2062G>A (p.Asp688Asn)
c.1734+16895G>A (n.1734+16895G>A)
3g.32997162C>ACA432960232GLB1c.1917G>T (p.Val639=)
c.1524G>T (p.Val508=)
c.1827G>T (p.Val609=)
c.2061G>T (p.Val687=)
c.1734+16894G>T (n.1734+16894G>T)
3g.32997162C>GCA432960233GLB1c.1917G>C (p.Val639=)
c.1524G>C (p.Val508=)
c.1827G>C (p.Val609=)
c.2061G>C (p.Val687=)
c.1734+16894G>C (n.1734+16894G>C)
 ClinVar gnomAD v4
3g.32997162C>TCA432960234GLB1c.1917G>A (p.Val639=)
c.1524G>A (p.Val508=)
c.1827G>A (p.Val609=)
c.2061G>A (p.Val687=)
c.1734+16894G>A (n.1734+16894G>A)
3g.32997163A>CCA352000271GLB1c.1916T>G (p.Val639Gly)
c.1523T>G (p.Val508Gly)
c.1826T>G (p.Val609Gly)
c.2060T>G (p.Val687Gly)
c.1734+16893T>G (n.1734+16893T>G)
3g.32997163A>GCA352000273GLB1c.1916T>C (p.Val639Ala)
c.1523T>C (p.Val508Ala)
c.1826T>C (p.Val609Ala)
c.2060T>C (p.Val687Ala)
c.1734+16893T>C (n.1734+16893T>C)
3g.32997163A>TCA352000275GLB1c.1916T>A (p.Val639Glu)
c.1523T>A (p.Val508Glu)
c.1826T>A (p.Val609Glu)
c.2060T>A (p.Val687Glu)
c.1734+16893T>A (n.1734+16893T>A)
3g.32997164C>ACA352000280GLB1c.1915G>T (p.Val639Leu)
c.1522G>T (p.Val508Leu)
c.1825G>T (p.Val609Leu)
c.2059G>T (p.Val687Leu)
c.1734+16892G>T (n.1734+16892G>T)
3g.32997164C=CA1355976922GLB1c.1915G= (p.Val639=)
c.1522G= (p.Val508=)
c.1825G= (p.Val609=)
c.2059G= (p.Val687=)
c.1734+16892G= (n.1734+16892G=)
3g.32997164C>GCA352000276GLB1c.1915G>C (p.Val639Leu)
c.1522G>C (p.Val508Leu)
c.1825G>C (p.Val609Leu)
c.2059G>C (p.Val687Leu)
c.1734+16892G>C (n.1734+16892G>C)
3g.32997164C>TCA352000278GLB1c.1915G>A (p.Val639Met)
c.1522G>A (p.Val508Met)
c.1825G>A (p.Val609Met)
c.2059G>A (p.Val687Met)
c.1734+16892G>A (n.1734+16892G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32997165G>ACA72667156GLB1c.1914C>T (p.Phe638=)
c.1521C>T (p.Phe507=)
c.1824C>T (p.Phe608=)
c.2058C>T (p.Phe686=)
c.1734+16891C>T (n.1734+16891C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32997165G>CCA352000283GLB1c.1914C>G (p.Phe638Leu)
c.1521C>G (p.Phe507Leu)
c.1824C>G (p.Phe608Leu)
c.2058C>G (p.Phe686Leu)
c.1734+16891C>G (n.1734+16891C>G)
3g.32997165G=CA1355976923GLB1c.1914C= (p.Phe638=)
c.1521C= (p.Phe507=)
c.1824C= (p.Phe608=)
c.2058C= (p.Phe686=)
c.1734+16891C= (n.1734+16891C=)
3g.32997165G>TCA352000284GLB1c.1914C>A (p.Phe638Leu)
c.1521C>A (p.Phe507Leu)
c.1824C>A (p.Phe608Leu)
c.2058C>A (p.Phe686Leu)
c.1734+16891C>A (n.1734+16891C>A)
3g.32997166A>CCA352000286GLB1c.1913T>G (p.Phe638Cys)
c.1520T>G (p.Phe507Cys)
c.1823T>G (p.Phe608Cys)
c.2057T>G (p.Phe686Cys)
c.1734+16890T>G (n.1734+16890T>G)
3g.32997166A>GCA352000288GLB1c.1913T>C (p.Phe638Ser)
c.1520T>C (p.Phe507Ser)
c.1823T>C (p.Phe608Ser)
c.2057T>C (p.Phe686Ser)
c.1734+16890T>C (n.1734+16890T>C)
3g.32997166A>TCA352000290GLB1c.1913T>A (p.Phe638Tyr)
c.1520T>A (p.Phe507Tyr)
c.1823T>A (p.Phe608Tyr)
c.2057T>A (p.Phe686Tyr)
c.1734+16890T>A (n.1734+16890T>A)
3g.32997167A>CCA352000292GLB1c.1912T>G (p.Phe638Val)
c.1519T>G (p.Phe507Val)
c.1822T>G (p.Phe608Val)
c.2056T>G (p.Phe686Val)
c.1734+16889T>G (n.1734+16889T>G)
3g.32997167A>GCA352000293GLB1c.1912T>C (p.Phe638Leu)
c.1519T>C (p.Phe507Leu)
c.1822T>C (p.Phe608Leu)
c.2056T>C (p.Phe686Leu)
c.1734+16889T>C (n.1734+16889T>C)
3g.32997167A>TCA352000294GLB1c.1912T>A (p.Phe638Ile)
c.1519T>A (p.Phe507Ile)
c.1822T>A (p.Phe608Ile)
c.2056T>A (p.Phe686Ile)
c.1734+16889T>A (n.1734+16889T>A)
3g.32997168C>ACA432960238GLB1c.1911G>T (p.Thr637=)
c.1518G>T (p.Thr506=)
c.1821G>T (p.Thr607=)
c.2055G>T (p.Thr685=)
c.1734+16888G>T (n.1734+16888G>T)
 ClinVar COSMIC
3g.32997168C=CA1355976924GLB1c.1911G= (p.Thr637=)
c.1518G= (p.Thr506=)
c.1821G= (p.Thr607=)
c.2055G= (p.Thr685=)
c.1734+16888G= (n.1734+16888G=)
3g.32997168C>GCA432960239GLB1c.1911G>C (p.Thr637=)
c.1518G>C (p.Thr506=)
c.1821G>C (p.Thr607=)
c.2055G>C (p.Thr685=)
c.1734+16888G>C (n.1734+16888G>C)
3g.32997168C>TCA2299273GLB1c.1911G>A (p.Thr637=)
c.1518G>A (p.Thr506=)
c.1821G>A (p.Thr607=)
c.2055G>A (p.Thr685=)
c.1734+16888G>A (n.1734+16888G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.32997169G>ACA2299274GLB1c.1910C>T (p.Thr637Met)
c.1517C>T (p.Thr506Met)
c.1820C>T (p.Thr607Met)
c.2054C>T (p.Thr685Met)
c.1734+16887C>T (n.1734+16887C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997169G>CCA352000300GLB1c.1910C>G (p.Thr637Arg)
c.1517C>G (p.Thr506Arg)
c.1820C>G (p.Thr607Arg)
c.2054C>G (p.Thr685Arg)
c.1734+16887C>G (n.1734+16887C>G)
3g.32997169G=CA1355976925GLB1c.1910C= (p.Thr637=)
c.1517C= (p.Thr506=)
c.1820C= (p.Thr607=)
c.2054C= (p.Thr685=)
c.1734+16887C= (n.1734+16887C=)
3g.32997169G>TCA352000298GLB1c.1910C>A (p.Thr637Lys)
c.1517C>A (p.Thr506Lys)
c.1820C>A (p.Thr607Lys)
c.2054C>A (p.Thr685Lys)
c.1734+16887C>A (n.1734+16887C>A)
3g.32997170T>ACA352000301GLB1c.1909A>T (p.Thr637Ser)
c.1516A>T (p.Thr506Ser)
c.1819A>T (p.Thr607Ser)
c.2053A>T (p.Thr685Ser)
c.1734+16886A>T (n.1734+16886A>T)
3g.32997170T>CCA352000303GLB1c.1909A>G (p.Thr637Ala)
c.1516A>G (p.Thr506Ala)
c.1819A>G (p.Thr607Ala)
c.2053A>G (p.Thr685Ala)
c.1734+16886A>G (n.1734+16886A>G)
3g.32997170T>GCA352000305GLB1c.1909A>C (p.Thr637Pro)
c.1516A>C (p.Thr506Pro)
c.1819A>C (p.Thr607Pro)
c.2053A>C (p.Thr685Pro)
c.1734+16886A>C (n.1734+16886A>C)
3g.32997171C>ACA432960245GLB1c.1908G>T (p.Val636=)
c.1515G>T (p.Val505=)
c.1818G>T (p.Val606=)
c.2052G>T (p.Val684=)
c.1734+16885G>T (n.1734+16885G>T)
3g.32997171C>GCA432960246GLB1c.1908G>C (p.Val636=)
c.1515G>C (p.Val505=)
c.1818G>C (p.Val606=)
c.2052G>C (p.Val684=)
c.1734+16885G>C (n.1734+16885G>C)
3g.32997171C>TCA432960247GLB1c.1908G>A (p.Val636=)
c.1515G>A (p.Val505=)
c.1818G>A (p.Val606=)
c.2052G>A (p.Val684=)
c.1734+16885G>A (n.1734+16885G>A)
3g.32997172A>CCA352000308GLB1c.1907T>G (p.Val636Gly)
c.1514T>G (p.Val505Gly)
c.1817T>G (p.Val606Gly)
c.2051T>G (p.Val684Gly)
c.1734+16884T>G (n.1734+16884T>G)
3g.32997172A>GCA352000310GLB1c.1907T>C (p.Val636Ala)
c.1514T>C (p.Val505Ala)
c.1817T>C (p.Val606Ala)
c.2051T>C (p.Val684Ala)
c.1734+16884T>C (n.1734+16884T>C)
3g.32997172A>TCA352000312GLB1c.1907T>A (p.Val636Glu)
c.1514T>A (p.Val505Glu)
c.1817T>A (p.Val606Glu)
c.2051T>A (p.Val684Glu)
c.1734+16884T>A (n.1734+16884T>A)
3g.32997173C>ACA352000314GLB1c.1906G>T (p.Val636Leu)
c.1513G>T (p.Val505Leu)
c.1816G>T (p.Val606Leu)
c.2050G>T (p.Val684Leu)
c.1734+16883G>T (n.1734+16883G>T)
3g.32997173C=CA1355976926GLB1c.1906G= (p.Val636=)
c.1513G= (p.Val505=)
c.1816G= (p.Val606=)
c.2050G= (p.Val684=)
c.1734+16883G= (n.1734+16883G=)
3g.32997173C>GCA352000317GLB1c.1906G>C (p.Val636Leu)
c.1513G>C (p.Val505Leu)
c.1816G>C (p.Val606Leu)
c.2050G>C (p.Val684Leu)
c.1734+16883G>C (n.1734+16883G>C)
3g.32997173C>TCA352000315GLB1c.1906G>A (p.Val636Met)
c.1513G>A (p.Val505Met)
c.1816G>A (p.Val606Met)
c.2050G>A (p.Val684Met)
c.1734+16883G>A (n.1734+16883G>A)
 dbSNP
3g.32997174A=CA1355976927GLB1c.1905T= (p.Ala635=)
c.1512T= (p.Ala504=)
c.1815T= (p.Ala605=)
c.2049T= (p.Ala683=)
c.1734+16882T= (n.1734+16882T=)
3g.32997174A>CCA432960252GLB1c.1905T>G (p.Ala635=)
c.1512T>G (p.Ala504=)
c.1815T>G (p.Ala605=)
c.2049T>G (p.Ala683=)
c.1734+16882T>G (n.1734+16882T>G)
3g.32997174A>GCA72667162GLB1c.1905T>C (p.Ala635=)
c.1512T>C (p.Ala504=)
c.1815T>C (p.Ala605=)
c.2049T>C (p.Ala683=)
c.1734+16882T>C (n.1734+16882T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32997174A>TCA432960251GLB1c.1905T>A (p.Ala635=)
c.1512T>A (p.Ala504=)
c.1815T>A (p.Ala605=)
c.2049T>A (p.Ala683=)
c.1734+16882T>A (n.1734+16882T>A)
3g.32997175G>ACA2299275GLB1c.1904C>T (p.Ala635Val)
c.1511C>T (p.Ala504Val)
c.1814C>T (p.Ala605Val)
c.2048C>T (p.Ala683Val)
c.1734+16881C>T (n.1734+16881C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997175G>CCA352000322GLB1c.1904C>G (p.Ala635Gly)
c.1511C>G (p.Ala504Gly)
c.1814C>G (p.Ala605Gly)
c.2048C>G (p.Ala683Gly)
c.1734+16881C>G (n.1734+16881C>G)
3g.32997175G=CA1355976928GLB1c.1904C= (p.Ala635=)
c.1511C= (p.Ala504=)
c.1814C= (p.Ala605=)
c.2048C= (p.Ala683=)
c.1734+16881C= (n.1734+16881C=)
3g.32997175G>TCA352000323GLB1c.1904C>A (p.Ala635Asp)
c.1511C>A (p.Ala504Asp)
c.1814C>A (p.Ala605Asp)
c.2048C>A (p.Ala683Asp)
c.1734+16881C>A (n.1734+16881C>A)
3g.32997176C>ACA352000325GLB1c.1903G>T (p.Ala635Ser)
c.1510G>T (p.Ala504Ser)
c.1813G>T (p.Ala605Ser)
c.2047G>T (p.Ala683Ser)
c.1734+16880G>T (n.1734+16880G>T)
 ClinVar
3g.32997176C=CA1355976930GLB1c.1903G= (p.Ala635=)
c.1510G= (p.Ala504=)
c.1813G= (p.Ala605=)
c.2047G= (p.Ala683=)
c.1734+16880G= (n.1734+16880G=)
3g.32997176C>GCA352000328GLB1c.1903G>C (p.Ala635Pro)
c.1510G>C (p.Ala504Pro)
c.1813G>C (p.Ala605Pro)
c.2047G>C (p.Ala683Pro)
c.1734+16880G>C (n.1734+16880G>C)
 ClinVar dbSNP
3g.32997176C>TCA352000326GLB1c.1903G>A (p.Ala635Thr)
c.1510G>A (p.Ala504Thr)
c.1813G>A (p.Ala605Thr)
c.2047G>A (p.Ala683Thr)
c.1734+16880G>A (n.1734+16880G>A)
 dbSNP
3g.32997176_32997177delinsCACA1355976929GLB1c.1902_1903delinsTG (p.Cys634=)
c.1509_1510delinsTG (p.Cys503=)
c.1812_1813delinsTG (p.Cys604=)
c.2046_2047delinsTG (p.Cys682=)
c.1734+16879_1734+16880delinsTG (n.1734+16879_1734+16880delinsTG)
3g.32997177delCA906337923GLB1c.1902del (p.Cys634TrpfsTer3)
c.1509del (p.Cys503TrpfsTer3)
c.1812del (p.Cys604TrpfsTer3)
c.2046del (p.Cys682TrpfsTer3)
c.1734+16879del (n.1734+16879del)
 dbSNP gnomAD v4
3g.32997177A>CCA352000330GLB1c.1902T>G (p.Cys634Trp)
c.1509T>G (p.Cys503Trp)
c.1812T>G (p.Cys604Trp)
c.2046T>G (p.Cys682Trp)
c.1734+16879T>G (n.1734+16879T>G)
3g.32997177A>GCA432960253GLB1c.1902T>C (p.Cys634=)
c.1509T>C (p.Cys503=)
c.1812T>C (p.Cys604=)
c.2046T>C (p.Cys682=)
c.1734+16879T>C (n.1734+16879T>C)
3g.32997177A>TCA352000332GLB1c.1902T>A (p.Cys634Ter)
c.1509T>A (p.Cys503Ter)
c.1812T>A (p.Cys604Ter)
c.2046T>A (p.Cys682Ter)
c.1734+16879T>A (n.1734+16879T>A)
3g.32997178C>ACA352000334GLB1c.1901G>T (p.Cys634Phe)
c.1508G>T (p.Cys503Phe)
c.1811G>T (p.Cys604Phe)
c.2045G>T (p.Cys682Phe)
c.1734+16878G>T (n.1734+16878G>T)
3g.32997178C>GCA352000336GLB1c.1901G>C (p.Cys634Ser)
c.1508G>C (p.Cys503Ser)
c.1811G>C (p.Cys604Ser)
c.2045G>C (p.Cys682Ser)
c.1734+16878G>C (n.1734+16878G>C)
3g.32997178C>TCA352000337GLB1c.1901G>A (p.Cys634Tyr)
c.1508G>A (p.Cys503Tyr)
c.1811G>A (p.Cys604Tyr)
c.2045G>A (p.Cys682Tyr)
c.1734+16878G>A (n.1734+16878G>A)
 gnomAD v4
3g.32997179A>CCA352000339GLB1c.1900T>G (p.Cys634Gly)
c.1507T>G (p.Cys503Gly)
c.1810T>G (p.Cys604Gly)
c.2044T>G (p.Cys682Gly)
c.1734+16877T>G (n.1734+16877T>G)
3g.32997179A>GCA352000341GLB1c.1900T>C (p.Cys634Arg)
c.1507T>C (p.Cys503Arg)
c.1810T>C (p.Cys604Arg)
c.2044T>C (p.Cys682Arg)
c.1734+16877T>C (n.1734+16877T>C)
3g.32997179A>TCA352000343GLB1c.1900T>A (p.Cys634Ser)
c.1507T>A (p.Cys503Ser)
c.1810T>A (p.Cys604Ser)
c.2044T>A (p.Cys682Ser)
c.1734+16877T>A (n.1734+16877T>A)
3g.32997180T>ACA432960257GLB1c.1899A>T (p.Leu633=)
c.1506A>T (p.Leu502=)
c.1809A>T (p.Leu603=)
c.2043A>T (p.Leu681=)
c.1734+16876A>T (n.1734+16876A>T)
 ClinVar gnomAD v4
3g.32997180T>CCA2299276GLB1c.1899A>G (p.Leu633=)
c.1506A>G (p.Leu502=)
c.1809A>G (p.Leu603=)
c.2043A>G (p.Leu681=)
c.1734+16876A>G (n.1734+16876A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.32997180T>GCA432960258GLB1c.1899A>C (p.Leu633=)
c.1506A>C (p.Leu502=)
c.1809A>C (p.Leu603=)
c.2043A>C (p.Leu681=)
c.1734+16876A>C (n.1734+16876A>C)
 gnomAD v4
3g.32997180T=CA1355976931GLB1c.1899A= (p.Leu633=)
c.1506A= (p.Leu502=)
c.1809A= (p.Leu603=)
c.2043A= (p.Leu681=)
c.1734+16876A= (n.1734+16876A=)
3g.32997181A>CCA352000346GLB1c.1898T>G (p.Leu633Arg)
c.1505T>G (p.Leu502Arg)
c.1808T>G (p.Leu603Arg)
c.2042T>G (p.Leu681Arg)
c.1734+16875T>G (n.1734+16875T>G)
3g.32997181A>GCA352000348GLB1c.1898T>C (p.Leu633Pro)
c.1505T>C (p.Leu502Pro)
c.1808T>C (p.Leu603Pro)
c.2042T>C (p.Leu681Pro)
c.1734+16875T>C (n.1734+16875T>C)
3g.32997181A>TCA352000353GLB1c.1898T>A (p.Leu633Gln)
c.1505T>A (p.Leu502Gln)
c.1808T>A (p.Leu603Gln)
c.2042T>A (p.Leu681Gln)
c.1734+16875T>A (n.1734+16875T>A)
3g.32997182G>ACA432960260GLB1c.1897C>T (p.Leu633=)
c.1504C>T (p.Leu502=)
c.1807C>T (p.Leu603=)
c.2041C>T (p.Leu681=)
c.1734+16874C>T (n.1734+16874C>T)
3g.32997182G>CCA352000355GLB1c.1897C>G (p.Leu633Val)
c.1504C>G (p.Leu502Val)
c.1807C>G (p.Leu603Val)
c.2041C>G (p.Leu681Val)
c.1734+16874C>G (n.1734+16874C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.32997182G=CA1355976932GLB1c.1897C= (p.Leu633=)
c.1504C= (p.Leu502=)
c.1807C= (p.Leu603=)
c.2041C= (p.Leu681=)
c.1734+16874C= (n.1734+16874C=)
3g.32997182G>TCA352000357GLB1c.1897C>A (p.Leu633Ile)
c.1504C>A (p.Leu502Ile)
c.1807C>A (p.Leu603Ile)
c.2041C>A (p.Leu681Ile)
c.1734+16874C>A (n.1734+16874C>A)
3g.32997183T>ACA352000359GLB1c.1896A>T (p.Glu632Asp)
c.1503A>T (p.Glu501Asp)
c.1806A>T (p.Glu602Asp)
c.2040A>T (p.Glu680Asp)
c.1734+16873A>T (n.1734+16873A>T)
3g.32997183T>CCA2299277GLB1c.1896A>G (p.Glu632=)
c.1503A>G (p.Glu501=)
c.1806A>G (p.Glu602=)
c.2040A>G (p.Glu680=)
c.1734+16873A>G (n.1734+16873A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997183T>GCA352000361GLB1c.1896A>C (p.Glu632Asp)
c.1503A>C (p.Glu501Asp)
c.1806A>C (p.Glu602Asp)
c.2040A>C (p.Glu680Asp)
c.1734+16873A>C (n.1734+16873A>C)
3g.32997183T=CA1355976933GLB1c.1896A= (p.Glu632=)
c.1503A= (p.Glu501=)
c.1806A= (p.Glu602=)
c.2040A= (p.Glu680=)
c.1734+16873A= (n.1734+16873A=)
3g.32997184T>ACA352000365GLB1c.1895A>T (p.Glu632Val)
c.1502A>T (p.Glu501Val)
c.1805A>T (p.Glu602Val)
c.2039A>T (p.Glu680Val)
c.1734+16872A>T (n.1734+16872A>T)
3g.32997184T>CCA352000366GLB1c.1895A>G (p.Glu632Gly)
c.1502A>G (p.Glu501Gly)
c.1805A>G (p.Glu602Gly)
c.2039A>G (p.Glu680Gly)
c.1734+16872A>G (n.1734+16872A>G)
 gnomAD v4
3g.32997184T>GCA352000367GLB1c.1895A>C (p.Glu632Ala)
c.1502A>C (p.Glu501Ala)
c.1805A>C (p.Glu602Ala)
c.2039A>C (p.Glu680Ala)
c.1734+16872A>C (n.1734+16872A>C)
3g.32997185C>ACA352000369GLB1c.1894G>T (p.Glu632Ter)
c.1501G>T (p.Glu501Ter)
c.1804G>T (p.Glu602Ter)
c.2038G>T (p.Glu680Ter)
c.1734+16871G>T (n.1734+16871G>T)
3g.32997185C=CA1355976934GLB1c.1894G= (p.Glu632=)
c.1501G= (p.Glu501=)
c.1804G= (p.Glu602=)
c.2038G= (p.Glu680=)
c.1734+16871G= (n.1734+16871G=)
3g.32997185C>GCA72667171GLB1c.1894G>C (p.Glu632Gln)
c.1501G>C (p.Glu501Gln)
c.1804G>C (p.Glu602Gln)
c.2038G>C (p.Glu680Gln)
c.1734+16871G>C (n.1734+16871G>C)
 dbSNP
3g.32997185C>TCA352000372GLB1c.1894G>A (p.Glu632Lys)
c.1501G>A (p.Glu501Lys)
c.1804G>A (p.Glu602Lys)
c.2038G>A (p.Glu680Lys)
c.1734+16871G>A (n.1734+16871G>A)
 dbSNP
3g.32997186T>ACA432960265GLB1c.1893A>T (p.Pro631=)
c.1500A>T (p.Pro500=)
c.1803A>T (p.Pro601=)
c.2037A>T (p.Pro679=)
c.1734+16870A>T (n.1734+16870A>T)
3g.32997186T>CCA432960266GLB1c.1893A>G (p.Pro631=)
c.1500A>G (p.Pro500=)
c.1803A>G (p.Pro601=)
c.2037A>G (p.Pro679=)
c.1734+16870A>G (n.1734+16870A>G)
3g.32997186T>GCA432960267GLB1c.1893A>C (p.Pro631=)
c.1500A>C (p.Pro500=)
c.1803A>C (p.Pro601=)
c.2037A>C (p.Pro679=)
c.1734+16870A>C (n.1734+16870A>C)
 gnomAD v4
3g.32997187G>ACA352000374GLB1c.1892C>T (p.Pro631Leu)
c.1499C>T (p.Pro500Leu)
c.1802C>T (p.Pro601Leu)
c.2036C>T (p.Pro679Leu)
c.1734+16869C>T (n.1734+16869C>T)
3g.32997187G>CCA352000376GLB1c.1892C>G (p.Pro631Arg)
c.1499C>G (p.Pro500Arg)
c.1802C>G (p.Pro601Arg)
c.2036C>G (p.Pro679Arg)
c.1734+16869C>G (n.1734+16869C>G)
3g.32997187G>TCA352000377GLB1c.1892C>A (p.Pro631Gln)
c.1499C>A (p.Pro500Gln)
c.1802C>A (p.Pro601Gln)
c.2036C>A (p.Pro679Gln)
c.1734+16869C>A (n.1734+16869C>A)
3g.32997188delCA2755763345GLB1c.1892del (p.Pro631GlnfsTer6)
c.1499del (p.Pro500GlnfsTer6)
c.1802del (p.Pro601GlnfsTer6)
c.2036del (p.Pro679GlnfsTer6)
c.1734+16869del (n.1734+16869del)
3g.32997188G>ACA352000379GLB1c.1891C>T (p.Pro631Ser)
c.1498C>T (p.Pro500Ser)
c.1801C>T (p.Pro601Ser)
c.2035C>T (p.Pro679Ser)
c.1734+16868C>T (n.1734+16868C>T)
 gnomAD v4
3g.32997188G>CCA352000380GLB1c.1891C>G (p.Pro631Ala)
c.1498C>G (p.Pro500Ala)
c.1801C>G (p.Pro601Ala)
c.2035C>G (p.Pro679Ala)
c.1734+16868C>G (n.1734+16868C>G)
 dbSNP gnomAD v2 gnomAD v4
3g.32997188G=CA1355976935GLB1c.1891C= (p.Pro631=)
c.1498C= (p.Pro500=)
c.1801C= (p.Pro601=)
c.2035C= (p.Pro679=)
c.1734+16868C= (n.1734+16868C=)
3g.32997188G>TCA352000382GLB1c.1891C>A (p.Pro631Thr)
c.1498C>A (p.Pro500Thr)
c.1801C>A (p.Pro601Thr)
c.2035C>A (p.Pro679Thr)
c.1734+16868C>A (n.1734+16868C>A)
 gnomAD v4
3g.32997189A>CCA352000386GLB1c.1890T>G (p.Asp630Glu)
c.1497T>G (p.Asp499Glu)
c.1800T>G (p.Asp600Glu)
c.2034T>G (p.Asp678Glu)
c.1734+16867T>G (n.1734+16867T>G)
3g.32997189A>GCA432960273GLB1c.1890T>C (p.Asp630=)
c.1497T>C (p.Asp499=)
c.1800T>C (p.Asp600=)
c.2034T>C (p.Asp678=)
c.1734+16867T>C (n.1734+16867T>C)
3g.32997189A>TCA352000384GLB1c.1890T>A (p.Asp630Glu)
c.1497T>A (p.Asp499Glu)
c.1800T>A (p.Asp600Glu)
c.2034T>A (p.Asp678Glu)
c.1734+16867T>A (n.1734+16867T>A)

Number of alleles fetched