Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
3g.32997190T>ACA352000388GLB1c.1889A>T (p.Asp630Val)
c.1496A>T (p.Asp499Val)
c.1799A>T (p.Asp600Val)
c.2033A>T (p.Asp678Val)
c.1734+16866A>T (n.1734+16866A>T)
 gnomAD v4
3g.32997190T>CCA2299278GLB1c.1889A>G (p.Asp630Gly)
c.1496A>G (p.Asp499Gly)
c.1799A>G (p.Asp600Gly)
c.2033A>G (p.Asp678Gly)
c.1734+16866A>G (n.1734+16866A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997190T>GCA352000390GLB1c.1889A>C (p.Asp630Ala)
c.1496A>C (p.Asp499Ala)
c.1799A>C (p.Asp600Ala)
c.2033A>C (p.Asp678Ala)
c.1734+16866A>C (n.1734+16866A>C)
3g.32997190T=CA1355976936GLB1c.1889A= (p.Asp630=)
c.1496A= (p.Asp499=)
c.1799A= (p.Asp600=)
c.2033A= (p.Asp678=)
c.1734+16866A= (n.1734+16866A=)
3g.32997191C>ACA352000392GLB1c.1888G>T (p.Asp630Tyr)
c.1495G>T (p.Asp499Tyr)
c.1798G>T (p.Asp600Tyr)
c.2032G>T (p.Asp678Tyr)
c.1734+16865G>T (n.1734+16865G>T)
3g.32997191C=CA1355976937GLB1c.1888G= (p.Asp630=)
c.1495G= (p.Asp499=)
c.1798G= (p.Asp600=)
c.2032G= (p.Asp678=)
c.1734+16865G= (n.1734+16865G=)
3g.32997191C>GCA352000393GLB1c.1888G>C (p.Asp630His)
c.1495G>C (p.Asp499His)
c.1798G>C (p.Asp600His)
c.2032G>C (p.Asp678His)
c.1734+16865G>C (n.1734+16865G>C)
3g.32997191C>TCA352000395GLB1c.1888G>A (p.Asp630Asn)
c.1495G>A (p.Asp499Asn)
c.1798G>A (p.Asp600Asn)
c.2032G>A (p.Asp678Asn)
c.1734+16865G>A (n.1734+16865G>A)
 dbSNP
3g.32997192A>CCA352000397GLB1c.1887T>G (p.Asp629Glu)
c.1494T>G (p.Asp498Glu)
c.1797T>G (p.Asp599Glu)
c.2031T>G (p.Asp677Glu)
c.1734+16864T>G (n.1734+16864T>G)
3g.32997192A>GCA432960278GLB1c.1887T>C (p.Asp629=)
c.1494T>C (p.Asp498=)
c.1797T>C (p.Asp599=)
c.2031T>C (p.Asp677=)
c.1734+16864T>C (n.1734+16864T>C)
3g.32997192A>TCA352000399GLB1c.1887T>A (p.Asp629Glu)
c.1494T>A (p.Asp498Glu)
c.1797T>A (p.Asp599Glu)
c.2031T>A (p.Asp677Glu)
c.1734+16864T>A (n.1734+16864T>A)
3g.32997193T>ACA352000401GLB1c.1886A>T (p.Asp629Val)
c.1493A>T (p.Asp498Val)
c.1796A>T (p.Asp599Val)
c.2030A>T (p.Asp677Val)
c.1734+16863A>T (n.1734+16863A>T)
3g.32997193T>CCA352000403GLB1c.1886A>G (p.Asp629Gly)
c.1493A>G (p.Asp498Gly)
c.1796A>G (p.Asp599Gly)
c.2030A>G (p.Asp677Gly)
c.1734+16863A>G (n.1734+16863A>G)
3g.32997193T>GCA352000405GLB1c.1886A>C (p.Asp629Ala)
c.1493A>C (p.Asp498Ala)
c.1796A>C (p.Asp599Ala)
c.2030A>C (p.Asp677Ala)
c.1734+16863A>C (n.1734+16863A>C)
3g.32997194C>ACA352000411GLB1c.1885G>T (p.Asp629Tyr)
c.1492G>T (p.Asp498Tyr)
c.1795G>T (p.Asp599Tyr)
c.2029G>T (p.Asp677Tyr)
c.1734+16862G>T (n.1734+16862G>T)
3g.32997194C=CA1355976938GLB1c.1885G= (p.Asp629=)
c.1492G= (p.Asp498=)
c.1795G= (p.Asp599=)
c.2029G= (p.Asp677=)
c.1734+16862G= (n.1734+16862G=)
3g.32997194C>GCA352000409GLB1c.1885G>C (p.Asp629His)
c.1492G>C (p.Asp498His)
c.1795G>C (p.Asp599His)
c.2029G>C (p.Asp677His)
c.1734+16862G>C (n.1734+16862G>C)
3g.32997194C>TCA352000407GLB1c.1885G>A (p.Asp629Asn)
c.1492G>A (p.Asp498Asn)
c.1795G>A (p.Asp599Asn)
c.2029G>A (p.Asp677Asn)
c.1734+16862G>A (n.1734+16862G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.32997195A>CCA352000412GLB1c.1884T>G (p.Ser628Arg)
c.1491T>G (p.Ser497Arg)
c.1794T>G (p.Ser598Arg)
c.2028T>G (p.Ser676Arg)
c.1734+16861T>G (n.1734+16861T>G)
3g.32997195A>GCA432960283GLB1c.1884T>C (p.Ser628=)
c.1491T>C (p.Ser497=)
c.1794T>C (p.Ser598=)
c.2028T>C (p.Ser676=)
c.1734+16861T>C (n.1734+16861T>C)
3g.32997195A>TCA352000414GLB1c.1884T>A (p.Ser628Arg)
c.1491T>A (p.Ser497Arg)
c.1794T>A (p.Ser598Arg)
c.2028T>A (p.Ser676Arg)
c.1734+16861T>A (n.1734+16861T>A)
3g.32997196C>ACA352000417GLB1c.1883G>T (p.Ser628Ile)
c.1490G>T (p.Ser497Ile)
c.1793G>T (p.Ser598Ile)
c.2027G>T (p.Ser676Ile)
c.1734+16860G>T (n.1734+16860G>T)
3g.32997196C=CA1355976939GLB1c.1883G= (p.Ser628=)
c.1490G= (p.Ser497=)
c.1793G= (p.Ser598=)
c.2027G= (p.Ser676=)
c.1734+16860G= (n.1734+16860G=)
3g.32997196C>GCA352000419GLB1c.1883G>C (p.Ser628Thr)
c.1490G>C (p.Ser497Thr)
c.1793G>C (p.Ser598Thr)
c.2027G>C (p.Ser676Thr)
c.1734+16860G>C (n.1734+16860G>C)
3g.32997196C>TCA2299279GLB1c.1883G>A (p.Ser628Asn)
c.1490G>A (p.Ser497Asn)
c.1793G>A (p.Ser598Asn)
c.2027G>A (p.Ser676Asn)
c.1734+16860G>A (n.1734+16860G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997197T>ACA352000422GLB1c.1882A>T (p.Ser628Cys)
c.1489A>T (p.Ser497Cys)
c.1792A>T (p.Ser598Cys)
c.2026A>T (p.Ser676Cys)
c.1734+16859A>T (n.1734+16859A>T)
3g.32997197T>CCA352000423GLB1c.1882A>G (p.Ser628Gly)
c.1489A>G (p.Ser497Gly)
c.1792A>G (p.Ser598Gly)
c.2026A>G (p.Ser676Gly)
c.1734+16859A>G (n.1734+16859A>G)
3g.32997197T>GCA352000425GLB1c.1882A>C (p.Ser628Arg)
c.1489A>C (p.Ser497Arg)
c.1792A>C (p.Ser598Arg)
c.2026A>C (p.Ser676Arg)
c.1734+16859A>C (n.1734+16859A>C)
3g.32997198G>ACA432960287GLB1c.1881C>T (p.Ser627=)
c.1488C>T (p.Ser496=)
c.1791C>T (p.Ser597=)
c.2025C>T (p.Ser675=)
c.1734+16858C>T (n.1734+16858C>T)
3g.32997198G>CCA352000427GLB1c.1881C>G (p.Ser627Arg)
c.1488C>G (p.Ser496Arg)
c.1791C>G (p.Ser597Arg)
c.2025C>G (p.Ser675Arg)
c.1734+16858C>G (n.1734+16858C>G)
3g.32997198G>TCA352000429GLB1c.1881C>A (p.Ser627Arg)
c.1488C>A (p.Ser496Arg)
c.1791C>A (p.Ser597Arg)
c.2025C>A (p.Ser675Arg)
c.1734+16858C>A (n.1734+16858C>A)
3g.32997199C>ACA352000432GLB1c.1880G>T (p.Ser627Ile)
c.1487G>T (p.Ser496Ile)
c.1790G>T (p.Ser597Ile)
c.2024G>T (p.Ser675Ile)
c.1734+16857G>T (n.1734+16857G>T)
3g.32997199C=CA1355976940GLB1c.1880G= (p.Ser627=)
c.1487G= (p.Ser496=)
c.1790G= (p.Ser597=)
c.2024G= (p.Ser675=)
c.1734+16857G= (n.1734+16857G=)
3g.32997199C>GCA352000434GLB1c.1880G>C (p.Ser627Thr)
c.1487G>C (p.Ser496Thr)
c.1790G>C (p.Ser597Thr)
c.2024G>C (p.Ser675Thr)
c.1734+16857G>C (n.1734+16857G>C)
3g.32997199C>TCA352000435GLB1c.1880G>A (p.Ser627Asn)
c.1487G>A (p.Ser496Asn)
c.1790G>A (p.Ser597Asn)
c.2024G>A (p.Ser675Asn)
c.1734+16857G>A (n.1734+16857G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.32997200T>ACA352000437GLB1c.1879A>T (p.Ser627Cys)
c.1486A>T (p.Ser496Cys)
c.1789A>T (p.Ser597Cys)
c.2023A>T (p.Ser675Cys)
c.1734+16856A>T (n.1734+16856A>T)
3g.32997200T>CCA352000439GLB1c.1879A>G (p.Ser627Gly)
c.1486A>G (p.Ser496Gly)
c.1789A>G (p.Ser597Gly)
c.2023A>G (p.Ser675Gly)
c.1734+16856A>G (n.1734+16856A>G)
3g.32997200T>GCA2299280GLB1c.1879A>C (p.Ser627Arg)
c.1486A>C (p.Ser496Arg)
c.1789A>C (p.Ser597Arg)
c.2023A>C (p.Ser675Arg)
c.1734+16856A>C (n.1734+16856A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997200T=CA1355976941GLB1c.1879A= (p.Ser627=)
c.1486A= (p.Ser496=)
c.1789A= (p.Ser597=)
c.2023A= (p.Ser675=)
c.1734+16856A= (n.1734+16856A=)
3g.32997201G>ACA432960289GLB1c.1878C>T (p.Cys626=)
c.1485C>T (p.Cys495=)
c.1788C>T (p.Cys596=)
c.2022C>T (p.Cys674=)
c.1734+16855C>T (n.1734+16855C>T)
 gnomAD v4
3g.32997201G>CCA352000441GLB1c.1878C>G (p.Cys626Trp)
c.1485C>G (p.Cys495Trp)
c.1788C>G (p.Cys596Trp)
c.2022C>G (p.Cys674Trp)
c.1734+16855C>G (n.1734+16855C>G)
3g.32997201G>TCA352000443GLB1c.1878C>A (p.Cys626Ter)
c.1485C>A (p.Cys495Ter)
c.1788C>A (p.Cys596Ter)
c.2022C>A (p.Cys674Ter)
c.1734+16855C>A (n.1734+16855C>A)
3g.32997202C>ACA352000445GLB1c.1877G>T (p.Cys626Phe)
c.1484G>T (p.Cys495Phe)
c.1787G>T (p.Cys596Phe)
c.2021G>T (p.Cys674Phe)
c.1734+16854G>T (n.1734+16854G>T)
3g.32997202C>GCA352000447GLB1c.1877G>C (p.Cys626Ser)
c.1484G>C (p.Cys495Ser)
c.1787G>C (p.Cys596Ser)
c.2021G>C (p.Cys674Ser)
c.1734+16854G>C (n.1734+16854G>C)
3g.32997202C>TCA352000449GLB1c.1877G>A (p.Cys626Tyr)
c.1484G>A (p.Cys495Tyr)
c.1787G>A (p.Cys596Tyr)
c.2021G>A (p.Cys674Tyr)
c.1734+16854G>A (n.1734+16854G>A)
3g.32997203delCA2664926658GLB1c.1876del (p.Cys626AlafsTer11)
c.1483del (p.Cys495AlafsTer11)
c.1786del (p.Cys596AlafsTer11)
c.2020del (p.Cys674AlafsTer11)
c.1734+16853del (n.1734+16853del)
 gnomAD v4
3g.32997203A>CCA352000451GLB1c.1876T>G (p.Cys626Gly)
c.1483T>G (p.Cys495Gly)
c.1786T>G (p.Cys596Gly)
c.2020T>G (p.Cys674Gly)
c.1734+16853T>G (n.1734+16853T>G)
3g.32997203A>GCA352000452GLB1c.1876T>C (p.Cys626Arg)
c.1483T>C (p.Cys495Arg)
c.1786T>C (p.Cys596Arg)
c.2020T>C (p.Cys674Arg)
c.1734+16853T>C (n.1734+16853T>C)
3g.32997203A>TCA352000453GLB1c.1876T>A (p.Cys626Ser)
c.1483T>A (p.Cys495Ser)
c.1786T>A (p.Cys596Ser)
c.2020T>A (p.Cys674Ser)
c.1734+16853T>A (n.1734+16853T>A)
3g.32997204G>ACA432960290GLB1c.1875C>T (p.Pro625=)
c.1482C>T (p.Pro494=)
c.1785C>T (p.Pro595=)
c.2019C>T (p.Pro673=)
c.1734+16852C>T (n.1734+16852C>T)
 gnomAD v4
3g.32997204G>CCA432960291GLB1c.1875C>G (p.Pro625=)
c.1482C>G (p.Pro494=)
c.1785C>G (p.Pro595=)
c.2019C>G (p.Pro673=)
c.1734+16852C>G (n.1734+16852C>G)
3g.32997204G>TCA432960292GLB1c.1875C>A (p.Pro625=)
c.1482C>A (p.Pro494=)
c.1785C>A (p.Pro595=)
c.2019C>A (p.Pro673=)
c.1734+16852C>A (n.1734+16852C>A)
3g.32997205G>ACA352000455GLB1c.1874C>T (p.Pro625Leu)
c.1481C>T (p.Pro494Leu)
c.1784C>T (p.Pro595Leu)
c.2018C>T (p.Pro673Leu)
c.1734+16851C>T (n.1734+16851C>T)
3g.32997205G>CCA352000458GLB1c.1874C>G (p.Pro625Arg)
c.1481C>G (p.Pro494Arg)
c.1784C>G (p.Pro595Arg)
c.2018C>G (p.Pro673Arg)
c.1734+16851C>G (n.1734+16851C>G)
 gnomAD v4
3g.32997205G>TCA352000460GLB1c.1874C>A (p.Pro625His)
c.1481C>A (p.Pro494His)
c.1784C>A (p.Pro595His)
c.2018C>A (p.Pro673His)
c.1734+16851C>A (n.1734+16851C>A)
3g.32997206G>ACA352000463GLB1c.1873C>T (p.Pro625Ser)
c.1480C>T (p.Pro494Ser)
c.1783C>T (p.Pro595Ser)
c.2017C>T (p.Pro673Ser)
c.1734+16850C>T (n.1734+16850C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32997206G>CCA352000465GLB1c.1873C>G (p.Pro625Ala)
c.1480C>G (p.Pro494Ala)
c.1783C>G (p.Pro595Ala)
c.2017C>G (p.Pro673Ala)
c.1734+16850C>G (n.1734+16850C>G)
3g.32997206G=CA1355976942GLB1c.1873C= (p.Pro625=)
c.1480C= (p.Pro494=)
c.1783C= (p.Pro595=)
c.2017C= (p.Pro673=)
c.1734+16850C= (n.1734+16850C=)
3g.32997206G>TCA2299281GLB1c.1873C>A (p.Pro625Thr)
c.1480C>A (p.Pro494Thr)
c.1783C>A (p.Pro595Thr)
c.2017C>A (p.Pro673Thr)
c.1734+16850C>A (n.1734+16850C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.32997207T>ACA432960295GLB1c.1872A>T (p.Ala624=)
c.1479A>T (p.Ala493=)
c.1782A>T (p.Ala594=)
c.2016A>T (p.Ala672=)
c.1734+16849A>T (n.1734+16849A>T)
3g.32997207T>CCA432960293GLB1c.1872A>G (p.Ala624=)
c.1479A>G (p.Ala493=)
c.1782A>G (p.Ala594=)
c.2016A>G (p.Ala672=)
c.1734+16849A>G (n.1734+16849A>G)
3g.32997207T>GCA432960294GLB1c.1872A>C (p.Ala624=)
c.1479A>C (p.Ala493=)
c.1782A>C (p.Ala594=)
c.2016A>C (p.Ala672=)
c.1734+16849A>C (n.1734+16849A>C)
3g.32997208G>ACA352000469GLB1c.1871C>T (p.Ala624Val)
c.1478C>T (p.Ala493Val)
c.1781C>T (p.Ala594Val)
c.2015C>T (p.Ala672Val)
c.1734+16848C>T (n.1734+16848C>T)
3g.32997208G>CCA352000467GLB1c.1871C>G (p.Ala624Gly)
c.1478C>G (p.Ala493Gly)
c.1781C>G (p.Ala594Gly)
c.2015C>G (p.Ala672Gly)
c.1734+16848C>G (n.1734+16848C>G)
3g.32997208G>TCA352000471GLB1c.1871C>A (p.Ala624Glu)
c.1478C>A (p.Ala493Glu)
c.1781C>A (p.Ala594Glu)
c.2015C>A (p.Ala672Glu)
c.1734+16848C>A (n.1734+16848C>A)
3g.32997209C>ACA352000473GLB1c.1870G>T (p.Ala624Ser)
c.1477G>T (p.Ala493Ser)
c.1780G>T (p.Ala594Ser)
c.2014G>T (p.Ala672Ser)
c.1734+16847G>T (n.1734+16847G>T)
3g.32997209C=CA1355976943GLB1c.1870G= (p.Ala624=)
c.1477G= (p.Ala493=)
c.1780G= (p.Ala594=)
c.2014G= (p.Ala672=)
c.1734+16847G= (n.1734+16847G=)
3g.32997209C>GCA352000475GLB1c.1870G>C (p.Ala624Pro)
c.1477G>C (p.Ala493Pro)
c.1780G>C (p.Ala594Pro)
c.2014G>C (p.Ala672Pro)
c.1734+16847G>C (n.1734+16847G>C)
 dbSNP gnomAD v3 gnomAD v4
3g.32997209C>TCA352000477GLB1c.1870G>A (p.Ala624Thr)
c.1477G>A (p.Ala493Thr)
c.1780G>A (p.Ala594Thr)
c.2014G>A (p.Ala672Thr)
c.1734+16847G>A (n.1734+16847G>A)
 dbSNP gnomAD v2
3g.32997210C>ACA352000479GLB1c.1869G>T (p.Trp623Cys)
c.1476G>T (p.Trp492Cys)
c.1779G>T (p.Trp593Cys)
c.2013G>T (p.Trp671Cys)
c.1734+16846G>T (n.1734+16846G>T)
3g.32997210C>GCA352000480GLB1c.1869G>C (p.Trp623Cys)
c.1476G>C (p.Trp492Cys)
c.1779G>C (p.Trp593Cys)
c.2013G>C (p.Trp671Cys)
c.1734+16846G>C (n.1734+16846G>C)
3g.32997210C>TCA352000481GLB1c.1869G>A (p.Trp623Ter)
c.1476G>A (p.Trp492Ter)
c.1779G>A (p.Trp593Ter)
c.2013G>A (p.Trp671Ter)
c.1734+16846G>A (n.1734+16846G>A)
3g.32997211C>ACA352000484GLB1c.1868G>T (p.Trp623Leu)
c.1475G>T (p.Trp492Leu)
c.1778G>T (p.Trp593Leu)
c.2012G>T (p.Trp671Leu)
c.1734+16845G>T (n.1734+16845G>T)
3g.32997211C>GCA352000486GLB1c.1868G>C (p.Trp623Ser)
c.1475G>C (p.Trp492Ser)
c.1778G>C (p.Trp593Ser)
c.2012G>C (p.Trp671Ser)
c.1734+16845G>C (n.1734+16845G>C)
3g.32997211C>TCA352000488GLB1c.1868G>A (p.Trp623Ter)
c.1475G>A (p.Trp492Ter)
c.1778G>A (p.Trp593Ter)
c.2012G>A (p.Trp671Ter)
c.1734+16845G>A (n.1734+16845G>A)
3g.32997212A=CA1355976944GLB1c.1867T= (p.Trp623=)
c.1474T= (p.Trp492=)
c.1777T= (p.Trp593=)
c.2011T= (p.Trp671=)
c.1734+16844T= (n.1734+16844T=)
3g.32997212A>CCA352000491GLB1c.1867T>G (p.Trp623Gly)
c.1474T>G (p.Trp492Gly)
c.1777T>G (p.Trp593Gly)
c.2011T>G (p.Trp671Gly)
c.1734+16844T>G (n.1734+16844T>G)
3g.32997212A>GCA352000492GLB1c.1867T>C (p.Trp623Arg)
c.1474T>C (p.Trp492Arg)
c.1777T>C (p.Trp593Arg)
c.2011T>C (p.Trp671Arg)
c.1734+16844T>C (n.1734+16844T>C)
 dbSNP
3g.32997212A>TCA352000493GLB1c.1867T>A (p.Trp623Arg)
c.1474T>A (p.Trp492Arg)
c.1777T>A (p.Trp593Arg)
c.2011T>A (p.Trp671Arg)
c.1734+16844T>A (n.1734+16844T>A)
3g.32997213C>ACA352000498GLB1c.1866G>T (p.Glu622Asp)
c.1473G>T (p.Glu491Asp)
c.1776G>T (p.Glu592Asp)
c.2010G>T (p.Glu670Asp)
c.1734+16843G>T (n.1734+16843G>T)
3g.32997213C=CA1355976945GLB1c.1866G= (p.Glu622=)
c.1473G= (p.Glu491=)
c.1776G= (p.Glu592=)
c.2010G= (p.Glu670=)
c.1734+16843G= (n.1734+16843G=)
3g.32997213C>GCA352000495GLB1c.1866G>C (p.Glu622Asp)
c.1473G>C (p.Glu491Asp)
c.1776G>C (p.Glu592Asp)
c.2010G>C (p.Glu670Asp)
c.1734+16843G>C (n.1734+16843G>C)
 dbSNP
3g.32997213C>TCA2299282GLB1c.1866G>A (p.Glu622=)
c.1473G>A (p.Glu491=)
c.1776G>A (p.Glu592=)
c.2010G>A (p.Glu670=)
c.1734+16843G>A (n.1734+16843G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.32997214T>ACA352000500GLB1c.1865A>T (p.Glu622Val)
c.1472A>T (p.Glu491Val)
c.1775A>T (p.Glu592Val)
c.2009A>T (p.Glu670Val)
c.1734+16842A>T (n.1734+16842A>T)
3g.32997214T>CCA352000501GLB1c.1865A>G (p.Glu622Gly)
c.1472A>G (p.Glu491Gly)
c.1775A>G (p.Glu592Gly)
c.2009A>G (p.Glu670Gly)
c.1734+16842A>G (n.1734+16842A>G)
3g.32997214T>GCA352000503GLB1c.1865A>C (p.Glu622Ala)
c.1472A>C (p.Glu491Ala)
c.1775A>C (p.Glu592Ala)
c.2009A>C (p.Glu670Ala)
c.1734+16842A>C (n.1734+16842A>C)
3g.32997219_32997224dupCA2664926659GLB1c.1860_1865dup (p.Glu622_Trp623insLeuGlu)
c.1467_1472dup (p.Glu491_Trp492insLeuGlu)
c.1770_1775dup (p.Glu592_Trp593insLeuGlu)
c.2004_2009dup (p.Glu670_Trp671insLeuGlu)
c.1734+16837_1734+16842dup (n.1734+16837_1734+16842dup)
 gnomAD v4
3g.32997215C>ACA352000505GLB1c.1864G>T (p.Glu622Ter)
c.1471G>T (p.Glu491Ter)
c.1774G>T (p.Glu592Ter)
c.2008G>T (p.Glu670Ter)
c.1734+16841G>T (n.1734+16841G>T)
3g.32997215C>GCA352000507GLB1c.1864G>C (p.Glu622Gln)
c.1471G>C (p.Glu491Gln)
c.1774G>C (p.Glu592Gln)
c.2008G>C (p.Glu670Gln)
c.1734+16841G>C (n.1734+16841G>C)
3g.32997215C>TCA352000509GLB1c.1864G>A (p.Glu622Lys)
c.1471G>A (p.Glu491Lys)
c.1774G>A (p.Glu592Lys)
c.2008G>A (p.Glu670Lys)
c.1734+16841G>A (n.1734+16841G>A)
3g.32997216C>ACA432960297GLB1c.1863G>T (p.Leu621=)
c.1470G>T (p.Leu490=)
c.1773G>T (p.Leu591=)
c.2007G>T (p.Leu669=)
c.1734+16840G>T (n.1734+16840G>T)
3g.32997216C>GCA432960298GLB1c.1863G>C (p.Leu621=)
c.1470G>C (p.Leu490=)
c.1773G>C (p.Leu591=)
c.2007G>C (p.Leu669=)
c.1734+16840G>C (n.1734+16840G>C)
3g.32997216C>TCA432960299GLB1c.1863G>A (p.Leu621=)
c.1470G>A (p.Leu490=)
c.1773G>A (p.Leu591=)
c.2007G>A (p.Leu669=)
c.1734+16840G>A (n.1734+16840G>A)
3g.32997217A>CCA352000511GLB1c.1862T>G (p.Leu621Arg)
c.1469T>G (p.Leu490Arg)
c.1772T>G (p.Leu591Arg)
c.2006T>G (p.Leu669Arg)
c.1734+16839T>G (n.1734+16839T>G)
3g.32997217A>GCA352000513GLB1c.1862T>C (p.Leu621Pro)
c.1469T>C (p.Leu490Pro)
c.1772T>C (p.Leu591Pro)
c.2006T>C (p.Leu669Pro)
c.1734+16839T>C (n.1734+16839T>C)
3g.32997217A>TCA352000515GLB1c.1862T>A (p.Leu621Gln)
c.1469T>A (p.Leu490Gln)
c.1772T>A (p.Leu591Gln)
c.2006T>A (p.Leu669Gln)
c.1734+16839T>A (n.1734+16839T>A)
3g.32997218G>ACA2299283GLB1c.1861C>T (p.Leu621=)
c.1468C>T (p.Leu490=)
c.1771C>T (p.Leu591=)
c.2005C>T (p.Leu669=)
c.1734+16838C>T (n.1734+16838C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997218G>CCA2299284GLB1c.1861C>G (p.Leu621Val)
c.1468C>G (p.Leu490Val)
c.1771C>G (p.Leu591Val)
c.2005C>G (p.Leu669Val)
c.1734+16838C>G (n.1734+16838C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.32997218G=CA1355976946GLB1c.1861C= (p.Leu621=)
c.1468C= (p.Leu490=)
c.1771C= (p.Leu591=)
c.2005C= (p.Leu669=)
c.1734+16838C= (n.1734+16838C=)
3g.32997218G>TCA352000517GLB1c.1861C>A (p.Leu621Met)
c.1468C>A (p.Leu490Met)
c.1771C>A (p.Leu591Met)
c.2005C>A (p.Leu669Met)
c.1734+16838C>A (n.1734+16838C>A)
3g.32997219T>ACA352000519GLB1c.1860A>T (p.Glu620Asp)
c.1467A>T (p.Glu489Asp)
c.1770A>T (p.Glu590Asp)
c.2004A>T (p.Glu668Asp)
c.1734+16837A>T (n.1734+16837A>T)
3g.32997219T>CCA432960300GLB1c.1860A>G (p.Glu620=)
c.1467A>G (p.Glu489=)
c.1770A>G (p.Glu590=)
c.2004A>G (p.Glu668=)
c.1734+16837A>G (n.1734+16837A>G)
3g.32997219T>GCA352000521GLB1c.1860A>C (p.Glu620Asp)
c.1467A>C (p.Glu489Asp)
c.1770A>C (p.Glu590Asp)
c.2004A>C (p.Glu668Asp)
c.1734+16837A>C (n.1734+16837A>C)
 dbSNP gnomAD v2 gnomAD v4
3g.32997219T=CA1355976947GLB1c.1860A= (p.Glu620=)
c.1467A= (p.Glu489=)
c.1770A= (p.Glu590=)
c.2004A= (p.Glu668=)
c.1734+16837A= (n.1734+16837A=)

Number of alleles fetched