Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.32997020C>ACA2755763325GLB1c.*25G>T (n.*25G>T)
c.1734+17036G>T (n.1734+17036G>T)
3g.32997021C>TCA2664926647GLB1c.*24G>A (n.*24G>A)
c.1734+17035G>A (n.1734+17035G>A)
 gnomAD v4
3g.32997022C>TCA2664926648GLB1c.*23G>A (n.*23G>A)
c.1734+17034G>A (n.1734+17034G>A)
 gnomAD v4
3g.32997026_32997041delCA2664926649GLB1c.*7_*22del (n.*7_*22del)
c.1734+17018_1734+17033del (n.1734+17018_1734+17033del)
 gnomAD v4
3g.32997024C=CA1355976864GLB1c.*21G= (n.*21G=)
c.1734+17032G= (n.1734+17032G=)
3g.32997024C>GCA542612756GLB1c.*21G>C (n.*21G>C)
c.1734+17032G>C (n.1734+17032G>C)
 dbSNP gnomAD v2 gnomAD v4
3g.32997024C>TCA1355976863GLB1c.*21G>A (n.*21G>A)
c.1734+17032G>A (n.1734+17032G>A)
 dbSNP
3g.32997025A>GCA2664926650GLB1c.*20T>C (n.*20T>C)
c.1734+17031T>C (n.1734+17031T>C)
 gnomAD v4
3g.32997026A=CA1355976865GLB1c.*19T= (n.*19T=)
c.1734+17030T= (n.1734+17030T=)
3g.32997026A>GCA906337519GLB1c.*19T>C (n.*19T>C)
c.1734+17030T>C (n.1734+17030T>C)
 dbSNP gnomAD v3 gnomAD v4
3g.32997028G>ACA2664926651GLB1c.*17C>T (n.*17C>T)
c.1734+17028C>T (n.1734+17028C>T)
 gnomAD v4
3g.32997030C=CA1355976866GLB1c.*15G= (n.*15G=)
c.1734+17026G= (n.1734+17026G=)
3g.32997030C>TCA1355976867GLB1c.*15G>A (n.*15G>A)
c.1734+17026G>A (n.1734+17026G>A)
 dbSNP gnomAD v4
3g.32997032C>TCA2664926652GLB1c.*13G>A (n.*13G>A)
c.1734+17024G>A (n.1734+17024G>A)
 gnomAD v4
3g.32997033A>CCA2664926653GLB1c.*12T>G (n.*12T>G)
c.1734+17023T>G (n.1734+17023T>G)
 gnomAD v4
3g.32997034G>CCA906337532GLB1c.*11C>G (n.*11C>G)
c.1734+17022C>G (n.1734+17022C>G)
 dbSNP gnomAD v3 gnomAD v4
3g.32997034G=CA1355976868GLB1c.*11C= (n.*11C=)
c.1734+17022C= (n.1734+17022C=)
3g.32997036C>ACA2755763326GLB1c.*9G>T (n.*9G>T)
c.1734+17020G>T (n.1734+17020G>T)
3g.32997036C>TCA2577539494GLB1c.*9G>A (n.*9G>A)
c.1734+17020G>A (n.1734+17020G>A)
 gnomAD v4
3g.32997039T>CCA72667058GLB1c.*6A>G (n.*6A>G)
c.1734+17017A>G (n.1734+17017A>G)
 dbSNP
3g.32997039T=CA1355976869GLB1c.*6A= (n.*6A=)
c.1734+17017A= (n.1734+17017A=)
3g.32997040C>TCA2664926654GLB1c.*5G>A (n.*5G>A)
c.1734+17016G>A (n.1734+17016G>A)
 gnomAD v4
3g.32997043C=CA1355976871GLB1c.*2G= (n.*2G=)
c.1734+17013G= (n.1734+17013G=)
3g.32997043C>TCA1355976870GLB1c.*2G>A (n.*2G>A)
c.1734+17013G>A (n.1734+17013G>A)
 dbSNP
3g.32997044A=CA1355976872GLB1c.*1T= (n.*1T=)
c.1734+17012T= (n.1734+17012T=)
3g.32997044A>TCA542612757GLB1c.*1T>A (n.*1T>A)
c.1734+17012T>A (n.1734+17012T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32997045T>ACA351999799GLB1c.2034A>T (p.Ter678Cys)
c.1641A>T (p.Ter547Cys)
c.1944A>T (p.Ter648Cys)
c.2178A>T (p.Ter726Cys)
c.1734+17011A>T (n.1734+17011A>T)
3g.32997045T>CCA351999800GLB1c.2034A>G (p.Ter678Trp)
c.1641A>G (p.Ter547Trp)
c.1944A>G (p.Ter648Trp)
c.2178A>G (p.Ter726Trp)
c.1734+17011A>G (n.1734+17011A>G)
3g.32997045T>GCA351999801GLB1c.2034A>C (p.Ter678Cys)
c.1641A>C (p.Ter547Cys)
c.1944A>C (p.Ter648Cys)
c.2178A>C (p.Ter726Cys)
c.1734+17011A>C (n.1734+17011A>C)
 ClinVar dbSNP
3g.32997045T=CA1355976873GLB1c.2034A= (p.Ter678=)
c.1641A= (p.Ter547=)
c.1944A= (p.Ter648=)
c.2178A= (p.Ter726=)
c.1734+17011A= (n.1734+17011A=)
3g.32997046C>ACA351999802GLB1c.2033G>T (p.Ter678Leu)
c.1640G>T (p.Ter547Leu)
c.1943G>T (p.Ter648Leu)
c.2177G>T (p.Ter726Leu)
c.1734+17010G>T (n.1734+17010G>T)
3g.32997046C>GCA351999803GLB1c.2033G>C (p.Ter678Ser)
c.1640G>C (p.Ter547Ser)
c.1943G>C (p.Ter648Ser)
c.2177G>C (p.Ter726Ser)
c.1734+17010G>C (n.1734+17010G>C)
3g.32997046C>TCA432960114GLB1c.2033G>A (p.Ter678=)
c.1640G>A (p.Ter547=)
c.1943G>A (p.Ter648=)
c.2177G>A (p.Ter726=)
c.1734+17010G>A (n.1734+17010G>A)
3g.32997047delCA2664926655GLB1c.2032del (p.Ter678AspextTer8)
c.1639del (p.Ter547AspextTer8)
c.1942del (p.Ter648AspextTer8)
c.2176del (p.Ter726AspextTer8)
c.1734+17009del (n.1734+17009del)
 gnomAD v4
3g.32997047A=CA1355976874GLB1c.2032T= (p.Ter678=)
c.1639T= (p.Ter547=)
c.1942T= (p.Ter648=)
c.2176T= (p.Ter726=)
c.1734+17009T= (n.1734+17009T=)
3g.32997047A>CCA351999804GLB1c.2032T>G (p.Ter678Gly)
c.1639T>G (p.Ter547Gly)
c.1942T>G (p.Ter648Gly)
c.2176T>G (p.Ter726Gly)
c.1734+17009T>G (n.1734+17009T>G)
3g.32997047A>GCA351999806GLB1c.2032T>C (p.Ter678Arg)
c.1639T>C (p.Ter547Arg)
c.1942T>C (p.Ter648Arg)
c.2176T>C (p.Ter726Arg)
c.1734+17009T>C (n.1734+17009T>C)
 ClinVar dbSNP
3g.32997047A>TCA351999805GLB1c.2032T>A (p.Ter678Arg)
c.1639T>A (p.Ter547Arg)
c.1942T>A (p.Ter648Arg)
c.2176T>A (p.Ter726Arg)
c.1734+17009T>A (n.1734+17009T>A)
3g.32997048T>ACA432960115GLB1c.2031A>T (p.Val677=)
c.1638A>T (p.Val546=)
c.1941A>T (p.Val647=)
c.2175A>T (p.Val725=)
c.1734+17008A>T (n.1734+17008A>T)
3g.32997048T>CCA72667071GLB1c.2031A>G (p.Val677=)
c.1638A>G (p.Val546=)
c.1941A>G (p.Val647=)
c.2175A>G (p.Val725=)
c.1734+17008A>G (n.1734+17008A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.32997048T>GCA432960116GLB1c.2031A>C (p.Val677=)
c.1638A>C (p.Val546=)
c.1941A>C (p.Val647=)
c.2175A>C (p.Val725=)
c.1734+17008A>C (n.1734+17008A>C)
3g.32997048T=CA1355976875GLB1c.2031A= (p.Val677=)
c.1638A= (p.Val546=)
c.1941A= (p.Val647=)
c.2175A= (p.Val725=)
c.1734+17008A= (n.1734+17008A=)
3g.32997049A=CA1355976876GLB1c.2030T= (p.Val677=)
c.1637T= (p.Val546=)
c.1940T= (p.Val647=)
c.2174T= (p.Val725=)
c.1734+17007T= (n.1734+17007T=)
3g.32997049A>CCA2299252GLB1c.2030T>G (p.Val677Gly)
c.1637T>G (p.Val546Gly)
c.1940T>G (p.Val647Gly)
c.2174T>G (p.Val725Gly)
c.1734+17007T>G (n.1734+17007T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997049A>GCA351999808GLB1c.2030T>C (p.Val677Ala)
c.1637T>C (p.Val546Ala)
c.1940T>C (p.Val647Ala)
c.2174T>C (p.Val725Ala)
c.1734+17007T>C (n.1734+17007T>C)
3g.32997049A>TCA351999807GLB1c.2030T>A (p.Val677Glu)
c.1637T>A (p.Val546Glu)
c.1940T>A (p.Val647Glu)
c.2174T>A (p.Val725Glu)
c.1734+17007T>A (n.1734+17007T>A)
3g.32997050C>ACA351999809GLB1c.2029G>T (p.Val677Leu)
c.1636G>T (p.Val546Leu)
c.1939G>T (p.Val647Leu)
c.2173G>T (p.Val725Leu)
c.1734+17006G>T (n.1734+17006G>T)
3g.32997050C>GCA351999811GLB1c.2029G>C (p.Val677Leu)
c.1636G>C (p.Val546Leu)
c.1939G>C (p.Val647Leu)
c.2173G>C (p.Val725Leu)
c.1734+17006G>C (n.1734+17006G>C)
3g.32997050C>TCA351999810GLB1c.2029G>A (p.Val677Ile)
c.1636G>A (p.Val546Ile)
c.1939G>A (p.Val647Ile)
c.2173G>A (p.Val725Ile)
c.1734+17006G>A (n.1734+17006G>A)
3g.32997051A=CA1355976877GLB1c.2028T= (p.His676=)
c.1635T= (p.His545=)
c.1938T= (p.His646=)
c.2172T= (p.His724=)
c.1734+17005T= (n.1734+17005T=)
3g.32997051A>CCA351999812GLB1c.2028T>G (p.His676Gln)
c.1635T>G (p.His545Gln)
c.1938T>G (p.His646Gln)
c.2172T>G (p.His724Gln)
c.1734+17005T>G (n.1734+17005T>G)
3g.32997051A>GCA2299253GLB1c.2028T>C (p.His676=)
c.1635T>C (p.His545=)
c.1938T>C (p.His646=)
c.2172T>C (p.His724=)
c.1734+17005T>C (n.1734+17005T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.32997051A>TCA351999813GLB1c.2028T>A (p.His676Gln)
c.1635T>A (p.His545Gln)
c.1938T>A (p.His646Gln)
c.2172T>A (p.His724Gln)
c.1734+17005T>A (n.1734+17005T>A)
 dbSNP gnomAD v2 gnomAD v4
3g.32997052T>ACA351999814GLB1c.2027A>T (p.His676Leu)
c.1634A>T (p.His545Leu)
c.1937A>T (p.His646Leu)
c.2171A>T (p.His724Leu)
c.1734+17004A>T (n.1734+17004A>T)
3g.32997052T>CCA351999815GLB1c.2027A>G (p.His676Arg)
c.1634A>G (p.His545Arg)
c.1937A>G (p.His646Arg)
c.2171A>G (p.His724Arg)
c.1734+17004A>G (n.1734+17004A>G)
 gnomAD v4
3g.32997052T>GCA351999816GLB1c.2027A>C (p.His676Pro)
c.1634A>C (p.His545Pro)
c.1937A>C (p.His646Pro)
c.2171A>C (p.His724Pro)
c.1734+17004A>C (n.1734+17004A>C)
3g.32997053G>ACA351999817GLB1c.2026C>T (p.His676Tyr)
c.1633C>T (p.His545Tyr)
c.1936C>T (p.His646Tyr)
c.2170C>T (p.His724Tyr)
c.1734+17003C>T (n.1734+17003C>T)
3g.32997053G>CCA351999818GLB1c.2026C>G (p.His676Asp)
c.1633C>G (p.His545Asp)
c.1936C>G (p.His646Asp)
c.2170C>G (p.His724Asp)
c.1734+17003C>G (n.1734+17003C>G)
3g.32997053G=CA1355976878GLB1c.2026C= (p.His676=)
c.1633C= (p.His545=)
c.1936C= (p.His646=)
c.2170C= (p.His724=)
c.1734+17003C= (n.1734+17003C=)
3g.32997053G>TCA351999819GLB1c.2026C>A (p.His676Asn)
c.1633C>A (p.His545Asn)
c.1936C>A (p.His646Asn)
c.2170C>A (p.His724Asn)
c.1734+17003C>A (n.1734+17003C>A)
 dbSNP gnomAD v2 gnomAD v4
3g.32997054G>ACA432960117GLB1c.2025C>T (p.Asp675=)
c.1632C>T (p.Asp544=)
c.1935C>T (p.Asp645=)
c.2169C>T (p.Asp723=)
c.1734+17002C>T (n.1734+17002C>T)
 gnomAD v4
3g.32997054G>CCA351999820GLB1c.2025C>G (p.Asp675Glu)
c.1632C>G (p.Asp544Glu)
c.1935C>G (p.Asp645Glu)
c.2169C>G (p.Asp723Glu)
c.1734+17002C>G (n.1734+17002C>G)
 gnomAD v4
3g.32997054G>TCA351999821GLB1c.2025C>A (p.Asp675Glu)
c.1632C>A (p.Asp544Glu)
c.1935C>A (p.Asp645Glu)
c.2169C>A (p.Asp723Glu)
c.1734+17002C>A (n.1734+17002C>A)
3g.32997055T>ACA351999824GLB1c.2024A>T (p.Asp675Val)
c.1631A>T (p.Asp544Val)
c.1934A>T (p.Asp645Val)
c.2168A>T (p.Asp723Val)
c.1734+17001A>T (n.1734+17001A>T)
3g.32997055T>CCA351999823GLB1c.2024A>G (p.Asp675Gly)
c.1631A>G (p.Asp544Gly)
c.1934A>G (p.Asp645Gly)
c.2168A>G (p.Asp723Gly)
c.1734+17001A>G (n.1734+17001A>G)
3g.32997055T>GCA351999822GLB1c.2024A>C (p.Asp675Ala)
c.1631A>C (p.Asp544Ala)
c.1934A>C (p.Asp645Ala)
c.2168A>C (p.Asp723Ala)
c.1734+17001A>C (n.1734+17001A>C)
3g.32997056C>ACA351999825GLB1c.2023G>T (p.Asp675Tyr)
c.1630G>T (p.Asp544Tyr)
c.1933G>T (p.Asp645Tyr)
c.2167G>T (p.Asp723Tyr)
c.1734+17000G>T (n.1734+17000G>T)
3g.32997056C>GCA351999826GLB1c.2023G>C (p.Asp675His)
c.1630G>C (p.Asp544His)
c.1933G>C (p.Asp645His)
c.2167G>C (p.Asp723His)
c.1734+17000G>C (n.1734+17000G>C)
3g.32997056C>TCA351999827GLB1c.2023G>A (p.Asp675Asn)
c.1630G>A (p.Asp544Asn)
c.1933G>A (p.Asp645Asn)
c.2167G>A (p.Asp723Asn)
c.1734+17000G>A (n.1734+17000G>A)
 gnomAD v4
3g.32997057C>ACA432960118GLB1c.2022G>T (p.Leu674=)
c.1629G>T (p.Leu543=)
c.1932G>T (p.Leu644=)
c.2166G>T (p.Leu722=)
c.1734+16999G>T (n.1734+16999G>T)
3g.32997057C=CA1355976879GLB1c.2022G= (p.Leu674=)
c.1629G= (p.Leu543=)
c.1932G= (p.Leu644=)
c.2166G= (p.Leu722=)
c.1734+16999G= (n.1734+16999G=)
3g.32997057C>GCA432960119GLB1c.2022G>C (p.Leu674=)
c.1629G>C (p.Leu543=)
c.1932G>C (p.Leu644=)
c.2166G>C (p.Leu722=)
c.1734+16999G>C (n.1734+16999G>C)
3g.32997057C>TCA72667076GLB1c.2022G>A (p.Leu674=)
c.1629G>A (p.Leu543=)
c.1932G>A (p.Leu644=)
c.2166G>A (p.Leu722=)
c.1734+16999G>A (n.1734+16999G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.32997058A>CCA351999828GLB1c.2021T>G (p.Leu674Arg)
c.1628T>G (p.Leu543Arg)
c.1931T>G (p.Leu644Arg)
c.2165T>G (p.Leu722Arg)
c.1734+16998T>G (n.1734+16998T>G)
3g.32997058A>GCA351999829GLB1c.2021T>C (p.Leu674Pro)
c.1628T>C (p.Leu543Pro)
c.1931T>C (p.Leu644Pro)
c.2165T>C (p.Leu722Pro)
c.1734+16998T>C (n.1734+16998T>C)
3g.32997058A>TCA351999830GLB1c.2021T>A (p.Leu674Gln)
c.1628T>A (p.Leu543Gln)
c.1931T>A (p.Leu644Gln)
c.2165T>A (p.Leu722Gln)
c.1734+16998T>A (n.1734+16998T>A)
3g.32997059G>ACA432960120GLB1c.2020C>T (p.Leu674=)
c.1627C>T (p.Leu543=)
c.1930C>T (p.Leu644=)
c.2164C>T (p.Leu722=)
c.1734+16997C>T (n.1734+16997C>T)
3g.32997059G>CCA351999831GLB1c.2020C>G (p.Leu674Val)
c.1627C>G (p.Leu543Val)
c.1930C>G (p.Leu644Val)
c.2164C>G (p.Leu722Val)
c.1734+16997C>G (n.1734+16997C>G)
3g.32997059G>TCA351999832GLB1c.2020C>A (p.Leu674Met)
c.1627C>A (p.Leu543Met)
c.1930C>A (p.Leu644Met)
c.2164C>A (p.Leu722Met)
c.1734+16997C>A (n.1734+16997C>A)
3g.32997060C>ACA351999833GLB1c.2019G>T (p.Trp673Cys)
c.1626G>T (p.Trp542Cys)
c.1929G>T (p.Trp643Cys)
c.2163G>T (p.Trp721Cys)
c.1734+16996G>T (n.1734+16996G>T)
 gnomAD v4
3g.32997060C>GCA351999834GLB1c.2019G>C (p.Trp673Cys)
c.1626G>C (p.Trp542Cys)
c.1929G>C (p.Trp643Cys)
c.2163G>C (p.Trp721Cys)
c.1734+16996G>C (n.1734+16996G>C)
3g.32997060C>TCA351999835GLB1c.2019G>A (p.Trp673Ter)
c.1626G>A (p.Trp542Ter)
c.1929G>A (p.Trp643Ter)
c.2163G>A (p.Trp721Ter)
c.1734+16996G>A (n.1734+16996G>A)
 gnomAD v4
3g.32997061C>ACA351999849GLB1c.2018G>T (p.Trp673Leu)
c.1625G>T (p.Trp542Leu)
c.1928G>T (p.Trp643Leu)
c.2162G>T (p.Trp721Leu)
c.1734+16995G>T (n.1734+16995G>T)
3g.32997061C>GCA351999848GLB1c.2018G>C (p.Trp673Ser)
c.1625G>C (p.Trp542Ser)
c.1928G>C (p.Trp643Ser)
c.2162G>C (p.Trp721Ser)
c.1734+16995G>C (n.1734+16995G>C)
3g.32997061C>TCA351999837GLB1c.2018G>A (p.Trp673Ter)
c.1625G>A (p.Trp542Ter)
c.1928G>A (p.Trp643Ter)
c.2162G>A (p.Trp721Ter)
c.1734+16995G>A (n.1734+16995G>A)
 gnomAD v4
3g.32997062A=CA1355976880GLB1c.2017T= (p.Trp673=)
c.1624T= (p.Trp542=)
c.1927T= (p.Trp643=)
c.2161T= (p.Trp721=)
c.1734+16994T= (n.1734+16994T=)
3g.32997062A>CCA351999851GLB1c.2017T>G (p.Trp673Gly)
c.1624T>G (p.Trp542Gly)
c.1927T>G (p.Trp643Gly)
c.2161T>G (p.Trp721Gly)
c.1734+16994T>G (n.1734+16994T>G)
3g.32997062A>GCA351999853GLB1c.2017T>C (p.Trp673Arg)
c.1624T>C (p.Trp542Arg)
c.1927T>C (p.Trp643Arg)
c.2161T>C (p.Trp721Arg)
c.1734+16994T>C (n.1734+16994T>C)
3g.32997062A>TCA351999854GLB1c.2017T>A (p.Trp673Arg)
c.1624T>A (p.Trp542Arg)
c.1927T>A (p.Trp643Arg)
c.2161T>A (p.Trp721Arg)
c.1734+16994T>A (n.1734+16994T>A)
3g.32997063T>ACA432960122GLB1c.2016A>T (p.Ser672=)
c.1623A>T (p.Ser541=)
c.1926A>T (p.Ser642=)
c.2160A>T (p.Ser720=)
c.1734+16993A>T (n.1734+16993A>T)
 ClinVar
3g.32997063T>CCA2299254GLB1c.2016A>G (p.Ser672=)
c.1623A>G (p.Ser541=)
c.1926A>G (p.Ser642=)
c.2160A>G (p.Ser720=)
c.1734+16993A>G (n.1734+16993A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997063T>GCA432960123GLB1c.2016A>C (p.Ser672=)
c.1623A>C (p.Ser541=)
c.1926A>C (p.Ser642=)
c.2160A>C (p.Ser720=)
c.1734+16993A>C (n.1734+16993A>C)
3g.32997063T=CA1355976881GLB1c.2016A= (p.Ser672=)
c.1623A= (p.Ser541=)
c.1926A= (p.Ser642=)
c.2160A= (p.Ser720=)
c.1734+16993A= (n.1734+16993A=)
3g.32997065_32997072dupCA1046600906GLB1c.2009_2016dup (p.Trp673LysfsTer16)
c.1616_1623dup (p.Trp542LysfsTer16)
c.1919_1926dup (p.Trp643LysfsTer16)
c.2153_2160dup (p.Trp721LysfsTer16)
c.1734+16986_1734+16993dup (n.1734+16986_1734+16993dup)
 dbSNP gnomAD v3 gnomAD v4
3g.32997064G>ACA351999858GLB1c.2015C>T (p.Ser672Leu)
c.1622C>T (p.Ser541Leu)
c.1925C>T (p.Ser642Leu)
c.2159C>T (p.Ser720Leu)
c.1734+16992C>T (n.1734+16992C>T)
3g.32997064G>CCA351999860GLB1c.2015C>G (p.Ser672Ter)
c.1622C>G (p.Ser541Ter)
c.1925C>G (p.Ser642Ter)
c.2159C>G (p.Ser720Ter)
c.1734+16992C>G (n.1734+16992C>G)
3g.32997064G>TCA351999862GLB1c.2015C>A (p.Ser672Ter)
c.1622C>A (p.Ser541Ter)
c.1925C>A (p.Ser642Ter)
c.2159C>A (p.Ser720Ter)
c.1734+16992C>A (n.1734+16992C>A)
3g.32997065A>CCA351999863GLB1c.2014T>G (p.Ser672Ala)
c.1621T>G (p.Ser541Ala)
c.1924T>G (p.Ser642Ala)
c.2158T>G (p.Ser720Ala)
c.1734+16991T>G (n.1734+16991T>G)
3g.32997065A>GCA351999866GLB1c.2014T>C (p.Ser672Pro)
c.1621T>C (p.Ser541Pro)
c.1924T>C (p.Ser642Pro)
c.2158T>C (p.Ser720Pro)
c.1734+16991T>C (n.1734+16991T>C)
3g.32997065A>TCA351999868GLB1c.2014T>A (p.Ser672Thr)
c.1621T>A (p.Ser541Thr)
c.1924T>A (p.Ser642Thr)
c.2158T>A (p.Ser720Thr)
c.1734+16991T>A (n.1734+16991T>A)
3g.32997066A>CCA351999869GLB1c.2013T>G (p.Asp671Glu)
c.1620T>G (p.Asp540Glu)
c.1923T>G (p.Asp641Glu)
c.2157T>G (p.Asp719Glu)
c.1734+16990T>G (n.1734+16990T>G)
3g.32997066A>GCA432960124GLB1c.2013T>C (p.Asp671=)
c.1620T>C (p.Asp540=)
c.1923T>C (p.Asp641=)
c.2157T>C (p.Asp719=)
c.1734+16990T>C (n.1734+16990T>C)
3g.32997066A>TCA351999870GLB1c.2013T>A (p.Asp671Glu)
c.1620T>A (p.Asp540Glu)
c.1923T>A (p.Asp641Glu)
c.2157T>A (p.Asp719Glu)
c.1734+16990T>A (n.1734+16990T>A)
3g.32997067T>ACA351999876GLB1c.2012A>T (p.Asp671Val)
c.1619A>T (p.Asp540Val)
c.1922A>T (p.Asp641Val)
c.2156A>T (p.Asp719Val)
c.1734+16989A>T (n.1734+16989A>T)
3g.32997067T>CCA351999872GLB1c.2012A>G (p.Asp671Gly)
c.1619A>G (p.Asp540Gly)
c.1922A>G (p.Asp641Gly)
c.2156A>G (p.Asp719Gly)
c.1734+16989A>G (n.1734+16989A>G)
 ClinVar dbSNP gnomAD v4
3g.32997067T>GCA351999874GLB1c.2012A>C (p.Asp671Ala)
c.1619A>C (p.Asp540Ala)
c.1922A>C (p.Asp641Ala)
c.2156A>C (p.Asp719Ala)
c.1734+16989A>C (n.1734+16989A>C)
3g.32997067T=CA1355976882GLB1c.2012A= (p.Asp671=)
c.1619A= (p.Asp540=)
c.1922A= (p.Asp641=)
c.2156A= (p.Asp719=)
c.1734+16989A= (n.1734+16989A=)
3g.32997067_32997068delinsTCCA1355976883GLB1c.2011_2012delinsGA (p.Asp671=)
c.1618_1619delinsGA (p.Asp540=)
c.1921_1922delinsGA (p.Asp641=)
c.2155_2156delinsGA (p.Asp719=)
c.1734+16988_1734+16989delinsGA (n.1734+16988_1734+16989delinsGA)
3g.32997068_32997069delCA913102732GLB1c.2011_2012del (p.Asp671PhefsTer?)
c.1618_1619del (p.Asp540PhefsTer?)
c.1921_1922del (p.Asp641PhefsTer?)
c.2155_2156del (p.Asp719PhefsTer?)
c.1734+16988_1734+16989del (n.1734+16988_1734+16989del)
3g.32997068delCA658821296GLB1c.2011del (p.Asp671IlefsTer15)
c.1618del (p.Asp540IlefsTer15)
c.1921del (p.Asp641IlefsTer15)
c.2155del (p.Asp719IlefsTer15)
c.1734+16988del (n.1734+16988del)
 ClinVar dbSNP
3g.32997068C>ACA351999877GLB1c.2011G>T (p.Asp671Tyr)
c.1618G>T (p.Asp540Tyr)
c.1921G>T (p.Asp641Tyr)
c.2155G>T (p.Asp719Tyr)
c.1734+16988G>T (n.1734+16988G>T)
3g.32997068C=CA1355976885GLB1c.2011G= (p.Asp671=)
c.1618G= (p.Asp540=)
c.1921G= (p.Asp641=)
c.2155G= (p.Asp719=)
c.1734+16988G= (n.1734+16988G=)
3g.32997068C>GCA351999878GLB1c.2011G>C (p.Asp671His)
c.1618G>C (p.Asp540His)
c.1921G>C (p.Asp641His)
c.2155G>C (p.Asp719His)
c.1734+16988G>C (n.1734+16988G>C)
3g.32997068C>TCA351999879GLB1c.2011G>A (p.Asp671Asn)
c.1618G>A (p.Asp540Asn)
c.1921G>A (p.Asp641Asn)
c.2155G>A (p.Asp719Asn)
c.1734+16988G>A (n.1734+16988G>A)
3g.32997068_32997072delCA913102733GLB1c.2007_2011del (p.Asn669LysfsTer?)
c.1614_1618del (p.Asn538LysfsTer?)
c.1917_1921del (p.Asn639LysfsTer?)
c.2151_2155del (p.Asn717LysfsTer?)
c.1734+16984_1734+16988del (n.1734+16984_1734+16988del)
3g.32997068_32997072delinsCTTTGCA1355976884GLB1c.2007_2011delinsCAAAG (p.Asn669=)
c.1614_1618delinsCAAAG (p.Asn538=)
c.1917_1921delinsCAAAG (p.Asn639=)
c.2151_2155delinsCAAAG (p.Asn717=)
c.1734+16984_1734+16988delinsCAAAG (n.1734+16984_1734+16988delinsCAAAG)
3g.32997069T>ACA351999880GLB1c.2010A>T (p.Lys670Asn)
c.1617A>T (p.Lys539Asn)
c.1920A>T (p.Lys640Asn)
c.2154A>T (p.Lys718Asn)
c.1734+16987A>T (n.1734+16987A>T)
3g.32997069T>CCA432960126GLB1c.2010A>G (p.Lys670=)
c.1617A>G (p.Lys539=)
c.1920A>G (p.Lys640=)
c.2154A>G (p.Lys718=)
c.1734+16987A>G (n.1734+16987A>G)
3g.32997069T>GCA351999881GLB1c.2010A>C (p.Lys670Asn)
c.1617A>C (p.Lys539Asn)
c.1920A>C (p.Lys640Asn)
c.2154A>C (p.Lys718Asn)
c.1734+16987A>C (n.1734+16987A>C)
3g.32997071dupCA542612758GLB1c.2010dup (p.Asp671ArgfsTer?)
c.1617dup (p.Asp540ArgfsTer?)
c.1920dup (p.Asp641ArgfsTer?)
c.2154dup (p.Asp719ArgfsTer?)
c.1734+16987dup (n.1734+16987dup)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.32997070_32997071delCA2580069235GLB1c.2009_2010del (p.Lys670ArgfsTer?)
c.1616_1617del (p.Lys539ArgfsTer?)
c.1919_1920del (p.Lys640ArgfsTer?)
c.2153_2154del (p.Lys718ArgfsTer?)
c.1734+16986_1734+16987del (n.1734+16986_1734+16987del)
 ClinVar
3g.32997072_32997075delCA658821297GLB1c.2007_2010del (p.Asn669LysfsTer16)
c.1614_1617del (p.Asn538LysfsTer16)
c.1917_1920del (p.Asn639LysfsTer16)
c.2151_2154del (p.Asn717LysfsTer16)
c.1734+16984_1734+16987del (n.1734+16984_1734+16987del)
 ClinVar dbSNP
3g.32997070T>ACA351999883GLB1c.2009A>T (p.Lys670Ile)
c.1616A>T (p.Lys539Ile)
c.1919A>T (p.Lys640Ile)
c.2153A>T (p.Lys718Ile)
c.1734+16986A>T (n.1734+16986A>T)
3g.32997070T>CCA2299255GLB1c.2009A>G (p.Lys670Arg)
c.1616A>G (p.Lys539Arg)
c.1919A>G (p.Lys640Arg)
c.2153A>G (p.Lys718Arg)
c.1734+16986A>G (n.1734+16986A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.32997070T>GCA351999890GLB1c.2009A>C (p.Lys670Thr)
c.1616A>C (p.Lys539Thr)
c.1919A>C (p.Lys640Thr)
c.2153A>C (p.Lys718Thr)
c.1734+16986A>C (n.1734+16986A>C)
3g.32997070T=CA1355976886GLB1c.2009A= (p.Lys670=)
c.1616A= (p.Lys539=)
c.1919A= (p.Lys640=)
c.2153A= (p.Lys718=)
c.1734+16986A= (n.1734+16986A=)
3g.32997071T>ACA351999893GLB1c.2008A>T (p.Lys670Ter)
c.1615A>T (p.Lys539Ter)
c.1918A>T (p.Lys640Ter)
c.2152A>T (p.Lys718Ter)
c.1734+16985A>T (n.1734+16985A>T)
3g.32997071T>CCA351999895GLB1c.2008A>G (p.Lys670Glu)
c.1615A>G (p.Lys539Glu)
c.1918A>G (p.Lys640Glu)
c.2152A>G (p.Lys718Glu)
c.1734+16985A>G (n.1734+16985A>G)
 ClinVar dbSNP gnomAD v4
3g.32997071T>GCA351999897GLB1c.2008A>C (p.Lys670Gln)
c.1615A>C (p.Lys539Gln)
c.1918A>C (p.Lys640Gln)
c.2152A>C (p.Lys718Gln)
c.1734+16985A>C (n.1734+16985A>C)
 dbSNP
3g.32997072G>ACA2299257GLB1c.2007C>T (p.Asn669=)
c.1614C>T (p.Asn538=)
c.1917C>T (p.Asn639=)
c.2151C>T (p.Asn717=)
c.1734+16984C>T (n.1734+16984C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997072G>CCA351999904GLB1c.2007C>G (p.Asn669Lys)
c.1614C>G (p.Asn538Lys)
c.1917C>G (p.Asn639Lys)
c.2151C>G (p.Asn717Lys)
c.1734+16984C>G (n.1734+16984C>G)
3g.32997072G=CA1355976887GLB1c.2007C= (p.Asn669=)
c.1614C= (p.Asn538=)
c.1917C= (p.Asn639=)
c.2151C= (p.Asn717=)
c.1734+16984C= (n.1734+16984C=)
3g.32997072G>TCA351999899GLB1c.2007C>A (p.Asn669Lys)
c.1614C>A (p.Asn538Lys)
c.1917C>A (p.Asn639Lys)
c.2151C>A (p.Asn717Lys)
c.1734+16984C>A (n.1734+16984C>A)
3g.32997072_32997073insACA2586971829GLB1c.2006_2007insT (p.Lys670GlnfsTer?)
c.1613_1614insT (p.Lys539GlnfsTer?)
c.1916_1917insT (p.Lys640GlnfsTer?)
c.2150_2151insT (p.Lys718GlnfsTer?)
c.1734+16983_1734+16984insT (n.1734+16983_1734+16984insT)
3g.32997073T>ACA351999916GLB1c.2006A>T (p.Asn669Ile)
c.1613A>T (p.Asn538Ile)
c.1916A>T (p.Asn639Ile)
c.2150A>T (p.Asn717Ile)
c.1734+16983A>T (n.1734+16983A>T)
3g.32997073T>CCA351999910GLB1c.2006A>G (p.Asn669Ser)
c.1613A>G (p.Asn538Ser)
c.1916A>G (p.Asn639Ser)
c.2150A>G (p.Asn717Ser)
c.1734+16983A>G (n.1734+16983A>G)
3g.32997073T>GCA351999908GLB1c.2006A>C (p.Asn669Thr)
c.1613A>C (p.Asn538Thr)
c.1916A>C (p.Asn639Thr)
c.2150A>C (p.Asn717Thr)
c.1734+16983A>C (n.1734+16983A>C)
3g.32997079dupCA2299256GLB1c.2006dup (p.Asn669LysfsTer?)
c.1613dup (p.Asn538LysfsTer?)
c.1916dup (p.Asn639LysfsTer?)
c.2150dup (p.Asn717LysfsTer?)
c.1734+16983dup (n.1734+16983dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.32997079delCA2573136201GLB1c.2006del (p.Asn669ThrfsTer17)
c.1613del (p.Asn538ThrfsTer17)
c.1916del (p.Asn639ThrfsTer17)
c.2150del (p.Asn717ThrfsTer17)
c.1734+16983del (n.1734+16983del)
 ClinVar dbSNP gnomAD v4
3g.32997074T>ACA351999919GLB1c.2005A>T (p.Asn669Tyr)
c.1612A>T (p.Asn538Tyr)
c.1915A>T (p.Asn639Tyr)
c.2149A>T (p.Asn717Tyr)
c.1734+16982A>T (n.1734+16982A>T)
3g.32997074T>CCA351999921GLB1c.2005A>G (p.Asn669Asp)
c.1612A>G (p.Asn538Asp)
c.1915A>G (p.Asn639Asp)
c.2149A>G (p.Asn717Asp)
c.1734+16982A>G (n.1734+16982A>G)
3g.32997074T>GCA351999922GLB1c.2005A>C (p.Asn669His)
c.1612A>C (p.Asn538His)
c.1915A>C (p.Asn639His)
c.2149A>C (p.Asn717His)
c.1734+16982A>C (n.1734+16982A>C)
3g.32997075T>ACA351999923GLB1c.2004A>T (p.Lys668Asn)
c.1611A>T (p.Lys537Asn)
c.1914A>T (p.Lys638Asn)
c.2148A>T (p.Lys716Asn)
c.1734+16981A>T (n.1734+16981A>T)
3g.32997075T>CCA432960127GLB1c.2004A>G (p.Lys668=)
c.1611A>G (p.Lys537=)
c.1914A>G (p.Lys638=)
c.2148A>G (p.Lys716=)
c.1734+16981A>G (n.1734+16981A>G)
3g.32997075T>GCA351999924GLB1c.2004A>C (p.Lys668Asn)
c.1611A>C (p.Lys537Asn)
c.1914A>C (p.Lys638Asn)
c.2148A>C (p.Lys716Asn)
c.1734+16981A>C (n.1734+16981A>C)
3g.32997076T>ACA351999925GLB1c.2003A>T (p.Lys668Ile)
c.1610A>T (p.Lys537Ile)
c.1913A>T (p.Lys638Ile)
c.2147A>T (p.Lys716Ile)
c.1734+16980A>T (n.1734+16980A>T)
 dbSNP gnomAD v3 gnomAD v4
3g.32997076T>CCA351999926GLB1c.2003A>G (p.Lys668Arg)
c.1610A>G (p.Lys537Arg)
c.1913A>G (p.Lys638Arg)
c.2147A>G (p.Lys716Arg)
c.1734+16980A>G (n.1734+16980A>G)
 dbSNP gnomAD v4
3g.32997076T>GCA351999927GLB1c.2003A>C (p.Lys668Thr)
c.1610A>C (p.Lys537Thr)
c.1913A>C (p.Lys638Thr)
c.2147A>C (p.Lys716Thr)
c.1734+16980A>C (n.1734+16980A>C)
3g.32997076T=CA1355976888GLB1c.2003A= (p.Lys668=)
c.1610A= (p.Lys537=)
c.1913A= (p.Lys638=)
c.2147A= (p.Lys716=)
c.1734+16980A= (n.1734+16980A=)
3g.32997077T>ACA2299258GLB1c.2002A>T (p.Lys668Ter)
c.1609A>T (p.Lys537Ter)
c.1912A>T (p.Lys638Ter)
c.2146A>T (p.Lys716Ter)
c.1734+16979A>T (n.1734+16979A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.32997077T>CCA72667090GLB1c.2002A>G (p.Lys668Glu)
c.1609A>G (p.Lys537Glu)
c.1912A>G (p.Lys638Glu)
c.2146A>G (p.Lys716Glu)
c.1734+16979A>G (n.1734+16979A>G)
 dbSNP
3g.32997077T>GCA351999928GLB1c.2002A>C (p.Lys668Gln)
c.1609A>C (p.Lys537Gln)
c.1912A>C (p.Lys638Gln)
c.2146A>C (p.Lys716Gln)
c.1734+16979A>C (n.1734+16979A>C)
3g.32997077T=CA1355976889GLB1c.2002A= (p.Lys668=)
c.1609A= (p.Lys537=)
c.1912A= (p.Lys638=)
c.2146A= (p.Lys716=)
c.1734+16979A= (n.1734+16979A=)
3g.32997078T>ACA351999929GLB1c.2001A>T (p.Gln667His)
c.1608A>T (p.Gln536His)
c.1911A>T (p.Gln637His)
c.2145A>T (p.Gln715His)
c.1734+16978A>T (n.1734+16978A>T)
3g.32997078T>CCA432960128GLB1c.2001A>G (p.Gln667=)
c.1608A>G (p.Gln536=)
c.1911A>G (p.Gln637=)
c.2145A>G (p.Gln715=)
c.1734+16978A>G (n.1734+16978A>G)
 gnomAD v4
3g.32997078T>GCA351999933GLB1c.2001A>C (p.Gln667His)
c.1608A>C (p.Gln536His)
c.1911A>C (p.Gln637His)
c.2145A>C (p.Gln715His)
c.1734+16978A>C (n.1734+16978A>C)
3g.32997079T>ACA351999935GLB1c.2000A>T (p.Gln667Leu)
c.1607A>T (p.Gln536Leu)
c.1910A>T (p.Gln637Leu)
c.2144A>T (p.Gln715Leu)
c.1734+16977A>T (n.1734+16977A>T)
3g.32997079T>CCA351999937GLB1c.2000A>G (p.Gln667Arg)
c.1607A>G (p.Gln536Arg)
c.1910A>G (p.Gln637Arg)
c.2144A>G (p.Gln715Arg)
c.1734+16977A>G (n.1734+16977A>G)
3g.32997079T>GCA351999938GLB1c.2000A>C (p.Gln667Pro)
c.1607A>C (p.Gln536Pro)
c.1910A>C (p.Gln637Pro)
c.2144A>C (p.Gln715Pro)
c.1734+16977A>C (n.1734+16977A>C)
3g.32997080G>ACA351999939GLB1c.1999C>T (p.Gln667Ter)
c.1606C>T (p.Gln536Ter)
c.1909C>T (p.Gln637Ter)
c.2143C>T (p.Gln715Ter)
c.1734+16976C>T (n.1734+16976C>T)
3g.32997080G>CCA2299259GLB1c.1999C>G (p.Gln667Glu)
c.1606C>G (p.Gln536Glu)
c.1909C>G (p.Gln637Glu)
c.2143C>G (p.Gln715Glu)
c.1734+16976C>G (n.1734+16976C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997080G=CA1355976890GLB1c.1999C= (p.Gln667=)
c.1606C= (p.Gln536=)
c.1909C= (p.Gln637=)
c.2143C= (p.Gln715=)
c.1734+16976C= (n.1734+16976C=)
3g.32997080G>TCA351999940GLB1c.1999C>A (p.Gln667Lys)
c.1606C>A (p.Gln536Lys)
c.1909C>A (p.Gln637Lys)
c.2143C>A (p.Gln715Lys)
c.1734+16976C>A (n.1734+16976C>A)
3g.32997081C>ACA432960129GLB1c.1998G>T (p.Pro666=)
c.1605G>T (p.Pro535=)
c.1908G>T (p.Pro636=)
c.2142G>T (p.Pro714=)
c.1734+16975G>T (n.1734+16975G>T)
 gnomAD v4
3g.32997081C=CA1355976891GLB1c.1998G= (p.Pro666=)
c.1605G= (p.Pro535=)
c.1908G= (p.Pro636=)
c.2142G= (p.Pro714=)
c.1734+16975G= (n.1734+16975G=)
3g.32997081C>GCA432960130GLB1c.1998G>C (p.Pro666=)
c.1605G>C (p.Pro535=)
c.1908G>C (p.Pro636=)
c.2142G>C (p.Pro714=)
c.1734+16975G>C (n.1734+16975G>C)
3g.32997081C>TCA2299260GLB1c.1998G>A (p.Pro666=)
c.1605G>A (p.Pro535=)
c.1908G>A (p.Pro636=)
c.2142G>A (p.Pro714=)
c.1734+16975G>A (n.1734+16975G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.32997082G>ACA2299261GLB1c.1997C>T (p.Pro666Leu)
c.1604C>T (p.Pro535Leu)
c.1907C>T (p.Pro636Leu)
c.2141C>T (p.Pro714Leu)
c.1734+16974C>T (n.1734+16974C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.32997082G>CCA351999943GLB1c.1997C>G (p.Pro666Arg)
c.1604C>G (p.Pro535Arg)
c.1907C>G (p.Pro636Arg)
c.2141C>G (p.Pro714Arg)
c.1734+16974C>G (n.1734+16974C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32997082G=CA1355976892GLB1c.1997C= (p.Pro666=)
c.1604C= (p.Pro535=)
c.1907C= (p.Pro636=)
c.2141C= (p.Pro714=)
c.1734+16974C= (n.1734+16974C=)
3g.32997082G>TCA351999945GLB1c.1997C>A (p.Pro666Gln)
c.1604C>A (p.Pro535Gln)
c.1907C>A (p.Pro636Gln)
c.2141C>A (p.Pro714Gln)
c.1734+16974C>A (n.1734+16974C>A)
3g.32997083G>ACA351999948GLB1c.1996C>T (p.Pro666Ser)
c.1603C>T (p.Pro535Ser)
c.1906C>T (p.Pro636Ser)
c.2140C>T (p.Pro714Ser)
c.1734+16973C>T (n.1734+16973C>T)
 gnomAD v4
3g.32997083G>CCA351999949GLB1c.1996C>G (p.Pro666Ala)
c.1603C>G (p.Pro535Ala)
c.1906C>G (p.Pro636Ala)
c.2140C>G (p.Pro714Ala)
c.1734+16973C>G (n.1734+16973C>G)
3g.32997083G>TCA351999956GLB1c.1996C>A (p.Pro666Thr)
c.1603C>A (p.Pro535Thr)
c.1906C>A (p.Pro636Thr)
c.2140C>A (p.Pro714Thr)
c.1734+16973C>A (n.1734+16973C>A)
3g.32997084G>ACA432960131GLB1c.1995C>T (p.Pro665=)
c.1602C>T (p.Pro534=)
c.1905C>T (p.Pro635=)
c.2139C>T (p.Pro713=)
c.1734+16972C>T (n.1734+16972C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32997084G>CCA432960132GLB1c.1995C>G (p.Pro665=)
c.1602C>G (p.Pro534=)
c.1905C>G (p.Pro635=)
c.2139C>G (p.Pro713=)
c.1734+16972C>G (n.1734+16972C>G)
 ClinVar dbSNP
3g.32997084G=CA1355976893GLB1c.1995C= (p.Pro665=)
c.1602C= (p.Pro534=)
c.1905C= (p.Pro635=)
c.2139C= (p.Pro713=)
c.1734+16972C= (n.1734+16972C=)
3g.32997084G>TCA432960133GLB1c.1995C>A (p.Pro665=)
c.1602C>A (p.Pro534=)
c.1905C>A (p.Pro635=)
c.2139C>A (p.Pro713=)
c.1734+16972C>A (n.1734+16972C>A)
3g.32997085G>ACA351999958GLB1c.1994C>T (p.Pro665Leu)
c.1601C>T (p.Pro534Leu)
c.1904C>T (p.Pro635Leu)
c.2138C>T (p.Pro713Leu)
c.1734+16971C>T (n.1734+16971C>T)
3g.32997085G>CCA351999960GLB1c.1994C>G (p.Pro665Arg)
c.1601C>G (p.Pro534Arg)
c.1904C>G (p.Pro635Arg)
c.2138C>G (p.Pro713Arg)
c.1734+16971C>G (n.1734+16971C>G)
3g.32997085G>TCA351999959GLB1c.1994C>A (p.Pro665His)
c.1601C>A (p.Pro534His)
c.1904C>A (p.Pro635His)
c.2138C>A (p.Pro713His)
c.1734+16971C>A (n.1734+16971C>A)
3g.32997086G>ACA351999961GLB1c.1993C>T (p.Pro665Ser)
c.1600C>T (p.Pro534Ser)
c.1903C>T (p.Pro635Ser)
c.2137C>T (p.Pro713Ser)
c.1734+16970C>T (n.1734+16970C>T)
3g.32997086G>CCA351999962GLB1c.1993C>G (p.Pro665Ala)
c.1600C>G (p.Pro534Ala)
c.1903C>G (p.Pro635Ala)
c.2137C>G (p.Pro713Ala)
c.1734+16970C>G (n.1734+16970C>G)
 gnomAD v4
3g.32997086G=CA1355976894GLB1c.1993C= (p.Pro665=)
c.1600C= (p.Pro534=)
c.1903C= (p.Pro635=)
c.2137C= (p.Pro713=)
c.1734+16970C= (n.1734+16970C=)
3g.32997086G>TCA351999963GLB1c.1993C>A (p.Pro665Thr)
c.1600C>A (p.Pro534Thr)
c.1903C>A (p.Pro635Thr)
c.2137C>A (p.Pro713Thr)
c.1734+16970C>A (n.1734+16970C>A)
 dbSNP gnomAD v4
3g.32997087_32997088delCA913102734GLB1c.1992_1993del (p.Pro666AlafsTer?)
c.1599_1600del (p.Pro535AlafsTer?)
c.1902_1903del (p.Pro636AlafsTer?)
c.2136_2137del (p.Pro714AlafsTer?)
c.1734+16969_1734+16970del (n.1734+16969_1734+16970del)
3g.32997087T>ACA432960134GLB1c.1992A>T (p.Pro664=)
c.1599A>T (p.Pro533=)
c.1902A>T (p.Pro634=)
c.2136A>T (p.Pro712=)
c.1734+16969A>T (n.1734+16969A>T)
3g.32997087T>CCA2299262GLB1c.1992A>G (p.Pro664=)
c.1599A>G (p.Pro533=)
c.1902A>G (p.Pro634=)
c.2136A>G (p.Pro712=)
c.1734+16969A>G (n.1734+16969A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997087T>GCA432960135GLB1c.1992A>C (p.Pro664=)
c.1599A>C (p.Pro533=)
c.1902A>C (p.Pro634=)
c.2136A>C (p.Pro712=)
c.1734+16969A>C (n.1734+16969A>C)
 ClinVar dbSNP
3g.32997087T=CA1355976895GLB1c.1992A= (p.Pro664=)
c.1599A= (p.Pro533=)
c.1902A= (p.Pro634=)
c.2136A= (p.Pro712=)
c.1734+16969A= (n.1734+16969A=)
3g.32997087_32997088delinsTGCA1355976896GLB1c.1991_1992delinsCA (p.Pro664=)
c.1598_1599delinsCA (p.Pro533=)
c.1901_1902delinsCA (p.Pro634=)
c.2135_2136delinsCA (p.Pro712=)
c.1734+16968_1734+16969delinsCA (n.1734+16968_1734+16969delinsCA)
3g.32997088G>ACA351999964GLB1c.1991C>T (p.Pro664Leu)
c.1598C>T (p.Pro533Leu)
c.1901C>T (p.Pro634Leu)
c.2135C>T (p.Pro712Leu)
c.1734+16968C>T (n.1734+16968C>T)
3g.32997088G>CCA351999965GLB1c.1991C>G (p.Pro664Arg)
c.1598C>G (p.Pro533Arg)
c.1901C>G (p.Pro634Arg)
c.2135C>G (p.Pro712Arg)
c.1734+16968C>G (n.1734+16968C>G)
3g.32997088G>TCA351999967GLB1c.1991C>A (p.Pro664Gln)
c.1598C>A (p.Pro533Gln)
c.1901C>A (p.Pro634Gln)
c.2135C>A (p.Pro712Gln)
c.1734+16968C>A (n.1734+16968C>A)
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)

Number of alleles fetched