Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.32997026_32997041del | CA2664926649 | GLB1 | c.*7_*22del (n.*7_*22del) c.1734+17018_1734+17033del (n.1734+17018_1734+17033del) | gnomAD v4 |
3 | g.32997028G>A | CA2664926651 | GLB1 | c.*17C>T (n.*17C>T) c.1734+17028C>T (n.1734+17028C>T) | gnomAD v4 |
3 | g.32997030C= | CA1355976866 | GLB1 | c.*15G= (n.*15G=) c.1734+17026G= (n.1734+17026G=) | |
3 | g.32997030C>T | CA1355976867 | GLB1 | c.*15G>A (n.*15G>A) c.1734+17026G>A (n.1734+17026G>A) | dbSNP gnomAD v4 |
3 | g.32997032C>T | CA2664926652 | GLB1 | c.*13G>A (n.*13G>A) c.1734+17024G>A (n.1734+17024G>A) | gnomAD v4 |
3 | g.32997033A>C | CA2664926653 | GLB1 | c.*12T>G (n.*12T>G) c.1734+17023T>G (n.1734+17023T>G) | gnomAD v4 |
3 | g.32997034G>C | CA906337532 | GLB1 | c.*11C>G (n.*11C>G) c.1734+17022C>G (n.1734+17022C>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.32997034G= | CA1355976868 | GLB1 | c.*11C= (n.*11C=) c.1734+17022C= (n.1734+17022C=) | |
3 | g.32997036C>A | CA2755763326 | GLB1 | c.*9G>T (n.*9G>T) c.1734+17020G>T (n.1734+17020G>T) | |
3 | g.32997036C>T | CA2577539494 | GLB1 | c.*9G>A (n.*9G>A) c.1734+17020G>A (n.1734+17020G>A) | gnomAD v4 |
3 | g.32997039dup | CA2840067687 | GLB1 | c.*8dup (n.*8dup) c.1734+17019dup (n.1734+17019dup) | |
3 | g.32997039T>C | CA72667058 | GLB1 | c.*6A>G (n.*6A>G) c.1734+17017A>G (n.1734+17017A>G) | dbSNP |
3 | g.32997039T= | CA1355976869 | GLB1 | c.*6A= (n.*6A=) c.1734+17017A= (n.1734+17017A=) | |
3 | g.32997040C>T | CA2664926654 | GLB1 | c.*5G>A (n.*5G>A) c.1734+17016G>A (n.1734+17016G>A) | gnomAD v4 |
3 | g.32997043C= | CA1355976871 | GLB1 | c.*2G= (n.*2G=) c.1734+17013G= (n.1734+17013G=) | |
3 | g.32997043C>T | CA1355976870 | GLB1 | c.*2G>A (n.*2G>A) c.1734+17013G>A (n.1734+17013G>A) | dbSNP |
3 | g.32997044A= | CA1355976872 | GLB1 | c.*1T= (n.*1T=) c.1734+17012T= (n.1734+17012T=) | |
3 | g.32997044A>T | CA542612757 | GLB1 | c.*1T>A (n.*1T>A) c.1734+17012T>A (n.1734+17012T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.32997045T>A | CA351999799 | GLB1 | c.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) | |
3 | g.32997045T>C | CA351999800 | GLB1 | c.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) | |
3 | g.32997045T>G | CA351999801 | GLB1 | c.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 |
3 | g.32997045T= | CA1355976873 | GLB1 | c.2034A= (p.Ter678=) c.1641A= (p.Ter547=) c.1944A= (p.Ter648=) c.2178A= (p.Ter726=) c.1734+17011A= (n.1734+17011A=) | |
3 | g.32997046C>A | CA351999802 | GLB1 | c.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) | |
3 | g.32997046C>G | CA351999803 | GLB1 | c.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) | |
3 | g.32997046C>T | CA432960114 | GLB1 | c.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) | |
3 | g.32997047del | CA2664926655 | GLB1 | c.2032del (p.Ter678AspextTer8) c.1639del (p.Ter547AspextTer8) c.1942del (p.Ter648AspextTer8) c.2176del (p.Ter726AspextTer8) c.1734+17009del (n.1734+17009del) | gnomAD v4 |
3 | g.32997047A= | CA1355976874 | GLB1 | c.2032T= (p.Ter678=) c.1639T= (p.Ter547=) c.1942T= (p.Ter648=) c.2176T= (p.Ter726=) c.1734+17009T= (n.1734+17009T=) | |
3 | g.32997047A>C | CA351999804 | GLB1 | c.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) | |
3 | g.32997047A>G | CA351999806 | GLB1 | c.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 |
3 | g.32997047A>T | CA351999805 | GLB1 | c.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) | |
3 | g.32997048T>A | CA432960115 | GLB1 | c.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) | |
3 | g.32997048T>C | CA72667071 | GLB1 | c.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 |
3 | g.32997048T>G | CA432960116 | GLB1 | c.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) | |
3 | g.32997048T= | CA1355976875 | GLB1 | c.2031A= (p.Val677=) c.1638A= (p.Val546=) c.1941A= (p.Val647=) c.2175A= (p.Val725=) c.1734+17008A= (n.1734+17008A=) | |
3 | g.32997049A= | CA1355976876 | GLB1 | c.2030T= (p.Val677=) c.1637T= (p.Val546=) c.1940T= (p.Val647=) c.2174T= (p.Val725=) c.1734+17007T= (n.1734+17007T=) | |
3 | g.32997049A>C | CA2299252 | GLB1 | c.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 |
3 | g.32997049A>G | CA351999808 | GLB1 | c.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) | |
3 | g.32997049A>T | CA351999807 | GLB1 | c.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) | |
3 | g.32997050C>A | CA351999809 | GLB1 | c.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) | |
3 | g.32997050C>G | CA351999811 | GLB1 | c.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) | |
3 | g.32997050C>T | CA351999810 | GLB1 | c.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) | |
3 | g.32997051A= | CA1355976877 | GLB1 | c.2028T= (p.His676=) c.1635T= (p.His545=) c.1938T= (p.His646=) c.2172T= (p.His724=) c.1734+17005T= (n.1734+17005T=) | |
3 | g.32997051A>C | CA351999812 | GLB1 | c.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) | |
3 | g.32997051A>G | CA2299253 | GLB1 | c.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 |
3 | g.32997051A>T | CA351999813 | GLB1 | c.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 |
3 | g.32997052T>A | CA351999814 | GLB1 | c.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) | |
3 | g.32997052T>C | CA351999815 | GLB1 | c.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 |
3 | g.32997052T>G | CA351999816 | GLB1 | c.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) | |
3 | g.32997053G>A | CA351999817 | GLB1 | c.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) | |
3 | g.32997053G>C | CA351999818 | GLB1 | c.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) | |
3 | g.32997053G= | CA1355976878 | GLB1 | c.2026C= (p.His676=) c.1633C= (p.His545=) c.1936C= (p.His646=) c.2170C= (p.His724=) c.1734+17003C= (n.1734+17003C=) | |
3 | g.32997053G>T | CA351999819 | GLB1 | c.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 |
3 | g.32997054G>A | CA432960117 | GLB1 | c.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 |
3 | g.32997054G>C | CA351999820 | GLB1 | c.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 |
3 | g.32997054G>T | CA351999821 | GLB1 | c.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) | |
3 | g.32997055T>A | CA351999824 | GLB1 | c.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) | |
3 | g.32997055T>C | CA351999823 | GLB1 | c.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) | |
3 | g.32997055T>G | CA351999822 | GLB1 | c.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) | |
3 | g.32997056C>A | CA351999825 | GLB1 | c.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) | |
3 | g.32997056C>G | CA351999826 | GLB1 | c.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) | |
3 | g.32997056C>T | CA351999827 | GLB1 | c.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 |
3 | g.32997057C>A | CA432960118 | GLB1 | c.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) | |
3 | g.32997057C= | CA1355976879 | GLB1 | c.2022G= (p.Leu674=) c.1629G= (p.Leu543=) c.1932G= (p.Leu644=) c.2166G= (p.Leu722=) c.1734+16999G= (n.1734+16999G=) | |
3 | g.32997057C>G | CA432960119 | GLB1 | c.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) | |
3 | g.32997057C>T | CA72667076 | GLB1 | c.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 |
3 | g.32997058A>C | CA351999828 | GLB1 | c.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) | |
3 | g.32997058A>G | CA351999829 | GLB1 | c.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) | |
3 | g.32997058A>T | CA351999830 | GLB1 | c.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) | |
3 | g.32997059G>A | CA432960120 | GLB1 | c.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) | |
3 | g.32997059G>C | CA351999831 | GLB1 | c.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) | |
3 | g.32997059G>T | CA351999832 | GLB1 | c.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) | |
3 | g.32997060C>A | CA351999833 | GLB1 | c.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 |
3 | g.32997060C>G | CA351999834 | GLB1 | c.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) | |
3 | g.32997060C>T | CA351999835 | GLB1 | c.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 |
3 | g.32997061C>A | CA351999849 | GLB1 | c.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) | |
3 | g.32997061C>G | CA351999848 | GLB1 | c.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) | |
3 | g.32997061C>T | CA351999837 | GLB1 | c.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 |
3 | g.32997062A= | CA1355976880 | GLB1 | c.2017T= (p.Trp673=) c.1624T= (p.Trp542=) c.1927T= (p.Trp643=) c.2161T= (p.Trp721=) c.1734+16994T= (n.1734+16994T=) | |
3 | g.32997062A>C | CA351999851 | GLB1 | c.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) | |
3 | g.32997062A>G | CA351999853 | GLB1 | c.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) | |
3 | g.32997062A>T | CA351999854 | GLB1 | c.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) | |
3 | g.32997063T>A | CA432960122 | GLB1 | c.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 |
3 | g.32997063T>C | CA2299254 | GLB1 | c.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 |
3 | g.32997063T>G | CA432960123 | GLB1 | c.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) | |
3 | g.32997063T= | CA1355976881 | GLB1 | c.2016A= (p.Ser672=) c.1623A= (p.Ser541=) c.1926A= (p.Ser642=) c.2160A= (p.Ser720=) c.1734+16993A= (n.1734+16993A=) | |
3 | g.32997065_32997072dup | CA1046600906 | GLB1 | c.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 |
3 | g.32997064G>A | CA351999858 | GLB1 | c.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) | |
3 | g.32997064G>C | CA351999860 | GLB1 | c.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) | |
3 | g.32997064G>T | CA351999862 | GLB1 | c.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) | |
3 | g.32997065A>C | CA351999863 | GLB1 | c.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) | |
3 | g.32997065A>G | CA351999866 | GLB1 | c.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) | |
3 | g.32997065A>T | CA351999868 | GLB1 | c.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) | |
3 | g.32997066A>C | CA351999869 | GLB1 | c.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) | |
3 | g.32997066A>G | CA432960124 | GLB1 | c.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) | |
3 | g.32997066A>T | CA351999870 | GLB1 | c.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) | |
3 | g.32997067T>A | CA351999876 | GLB1 | c.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) | |
3 | g.32997067T>C | CA351999872 | GLB1 | c.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 |
3 | g.32997067T>G | CA351999874 | GLB1 | c.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) | |
3 | g.32997067T= | CA1355976882 | GLB1 | c.2012A= (p.Asp671=) c.1619A= (p.Asp540=) c.1922A= (p.Asp641=) c.2156A= (p.Asp719=) c.1734+16989A= (n.1734+16989A=) | |
3 | g.32997067_32997068delinsTC | CA1355976883 | GLB1 | c.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) | |
3 | g.32997068_32997069del | CA913102732 | GLB1 | c.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) | |
3 | g.32997068del | CA658821296 | GLB1 | c.2011del (p.Asp671IlefsTer15) c.1618del (p.Asp540IlefsTer15) c.1921del (p.Asp641IlefsTer15) c.2155del (p.Asp719IlefsTer15) c.1734+16988del (n.1734+16988del) | ClinVar dbSNP |
3 | g.32997068C>A | CA351999877 | GLB1 | c.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) | |
3 | g.32997068C= | CA1355976885 | GLB1 | c.2011G= (p.Asp671=) c.1618G= (p.Asp540=) c.1921G= (p.Asp641=) c.2155G= (p.Asp719=) c.1734+16988G= (n.1734+16988G=) | |
3 | g.32997068C>G | CA351999878 | GLB1 | c.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) | |
3 | g.32997068C>T | CA351999879 | GLB1 | c.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) | |
3 | g.32997068_32997072del | CA913102733 | GLB1 | c.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) | |
3 | g.32997068_32997072delinsCTTTG | CA1355976884 | GLB1 | c.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) | |
3 | g.32997069T>A | CA351999880 | GLB1 | c.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) | |
3 | g.32997069T>C | CA432960126 | GLB1 | c.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) | |
3 | g.32997069T>G | CA351999881 | GLB1 | c.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) | |
3 | g.32997071dup | CA542612758 | GLB1 | c.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 |
3 | g.32997070_32997071del | CA2580069235 | GLB1 | c.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 |
3 | g.32997072_32997075del | CA658821297 | GLB1 | c.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 |
3 | g.32997070T>A | CA351999883 | GLB1 | c.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) | |
3 | g.32997070T>C | CA2299255 | GLB1 | c.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 |
3 | g.32997070T>G | CA351999890 | GLB1 | c.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) | |
3 | g.32997070T= | CA1355976886 | GLB1 | c.2009A= (p.Lys670=) c.1616A= (p.Lys539=) c.1919A= (p.Lys640=) c.2153A= (p.Lys718=) c.1734+16986A= (n.1734+16986A=) | |
3 | g.32997071T>A | CA351999893 | GLB1 | c.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) | |
3 | g.32997071T>C | CA351999895 | GLB1 | c.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 |
3 | g.32997071T>G | CA351999897 | GLB1 | c.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 |
3 | g.32997072G>A | CA2299257 | GLB1 | c.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 |
3 | g.32997072G>C | CA351999904 | GLB1 | c.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) | |
3 | g.32997072G= | CA1355976887 | GLB1 | c.2007C= (p.Asn669=) c.1614C= (p.Asn538=) c.1917C= (p.Asn639=) c.2151C= (p.Asn717=) c.1734+16984C= (n.1734+16984C=) | |
3 | g.32997072G>T | CA351999899 | GLB1 | c.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) | |
3 | g.32997072_32997073insA | CA2586971829 | GLB1 | c.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) | |
3 | g.32997073T>A | CA351999916 | GLB1 | c.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) | |
3 | g.32997073T>C | CA351999910 | GLB1 | c.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) | |
3 | g.32997073T>G | CA351999908 | GLB1 | c.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) | |
3 | g.32997079dup | CA2299256 | GLB1 | c.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 |
3 | g.32997079del | CA2573136201 | GLB1 | c.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 |
3 | g.32997074T>A | CA351999919 | GLB1 | c.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) | |
3 | g.32997074T>C | CA351999921 | GLB1 | c.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) | |
3 | g.32997074T>G | CA351999922 | GLB1 | c.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) | |
3 | g.32997075T>A | CA351999923 | GLB1 | c.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) | |
3 | g.32997075T>C | CA432960127 | GLB1 | c.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) | |
3 | g.32997075T>G | CA351999924 | GLB1 | c.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) | |
3 | g.32997076T>A | CA351999925 | GLB1 | c.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 |
3 | g.32997076T>C | CA351999926 | GLB1 | c.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 |
3 | g.32997076T>G | CA351999927 | GLB1 | c.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) | |
3 | g.32997076T= | CA1355976888 | GLB1 | c.2003A= (p.Lys668=) c.1610A= (p.Lys537=) c.1913A= (p.Lys638=) c.2147A= (p.Lys716=) c.1734+16980A= (n.1734+16980A=) | |
3 | g.32997077T>A | CA2299258 | GLB1 | c.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 |
3 | g.32997077T>C | CA72667090 | GLB1 | c.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 |
3 | g.32997077T>G | CA351999928 | GLB1 | c.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) | |
3 | g.32997077T= | CA1355976889 | GLB1 | c.2002A= (p.Lys668=) c.1609A= (p.Lys537=) c.1912A= (p.Lys638=) c.2146A= (p.Lys716=) c.1734+16979A= (n.1734+16979A=) | |
3 | g.32997078T>A | CA351999929 | GLB1 | c.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) | |
3 | g.32997078T>C | CA432960128 | GLB1 | c.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 |
3 | g.32997078T>G | CA351999933 | GLB1 | c.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) | |
3 | g.32997079T>A | CA351999935 | GLB1 | c.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) | |
3 | g.32997079T>C | CA351999937 | GLB1 | c.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) | |
3 | g.32997079T>G | CA351999938 | GLB1 | c.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) | |
3 | g.32997080G>A | CA351999939 | GLB1 | c.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) | |
3 | g.32997080G>C | CA2299259 | GLB1 | c.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 |
3 | g.32997080G= | CA1355976890 | GLB1 | c.1999C= (p.Gln667=) c.1606C= (p.Gln536=) c.1909C= (p.Gln637=) c.2143C= (p.Gln715=) c.1734+16976C= (n.1734+16976C=) | |
3 | g.32997080G>T | CA351999940 | GLB1 | c.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) | |
3 | g.32997081C>A | CA432960129 | GLB1 | c.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 |
3 | g.32997081C= | CA1355976891 | GLB1 | c.1998G= (p.Pro666=) c.1605G= (p.Pro535=) c.1908G= (p.Pro636=) c.2142G= (p.Pro714=) c.1734+16975G= (n.1734+16975G=) | |
3 | g.32997081C>G | CA432960130 | GLB1 | c.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) | |
3 | g.32997081C>T | CA2299260 | GLB1 | c.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 |
3 | g.32997082G>A | CA2299261 | GLB1 | c.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 |
3 | g.32997082G>C | CA351999943 | GLB1 | c.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 |
3 | g.32997082G= | CA1355976892 | GLB1 | c.1997C= (p.Pro666=) c.1604C= (p.Pro535=) c.1907C= (p.Pro636=) c.2141C= (p.Pro714=) c.1734+16974C= (n.1734+16974C=) | |
3 | g.32997082G>T | CA351999945 | GLB1 | c.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) | |
3 | g.32997083G>A | CA351999948 | GLB1 | c.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 |
3 | g.32997083G>C | CA351999949 | GLB1 | c.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) | |
3 | g.32997083G>T | CA351999956 | GLB1 | c.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) | |
3 | g.32997084G>A | CA432960131 | GLB1 | c.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 |
3 | g.32997084G>C | CA432960132 | GLB1 | c.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 |
3 | g.32997084G= | CA1355976893 | GLB1 | c.1995C= (p.Pro665=) c.1602C= (p.Pro534=) c.1905C= (p.Pro635=) c.2139C= (p.Pro713=) c.1734+16972C= (n.1734+16972C=) | |
3 | g.32997084G>T | CA432960133 | GLB1 | c.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) | |
3 | g.32997085G>A | CA351999958 | GLB1 | c.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) | |
3 | g.32997085G>C | CA351999960 | GLB1 | c.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) | |
3 | g.32997085G>T | CA351999959 | GLB1 | c.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) | |
3 | g.32997086G>A | CA351999961 | GLB1 | c.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) | |
3 | g.32997086G>C | CA351999962 | GLB1 | c.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 |
3 | g.32997086G= | CA1355976894 | GLB1 | c.1993C= (p.Pro665=) c.1600C= (p.Pro534=) c.1903C= (p.Pro635=) c.2137C= (p.Pro713=) c.1734+16970C= (n.1734+16970C=) | |
3 | g.32997086G>T | CA351999963 | GLB1 | c.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 |
3 | g.32997087_32997088del | CA913102734 | GLB1 | c.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) | |
3 | g.32997087T>A | CA432960134 | GLB1 | c.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) | |
3 | g.32997087T>C | CA2299262 | GLB1 | c.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 |
3 | g.32997087T>G | CA432960135 | GLB1 | c.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 |
3 | g.32997087T= | CA1355976895 | GLB1 | c.1992A= (p.Pro664=) c.1599A= (p.Pro533=) c.1902A= (p.Pro634=) c.2136A= (p.Pro712=) c.1734+16969A= (n.1734+16969A=) | |
3 | g.32997087_32997088delinsTG | CA1355976896 | GLB1 | c.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) | |
3 | g.32997088G>A | CA351999964 | GLB1 | c.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) | |
3 | g.32997088G>C | CA351999965 | GLB1 | c.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) | |
3 | g.32997088G>T | CA351999967 | GLB1 | c.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) | |
3 | g.32997092del | CA658821298 | GLB1 | c.1991del (p.Pro664HisfsTer22) c.1598del (p.Pro533HisfsTer22) c.1901del (p.Pro634HisfsTer22) c.2135del (p.Pro712HisfsTer22) c.1734+16968del (n.1734+16968del) | ClinVar dbSNP |
3 | g.32997089G>A | CA351999969 | GLB1 | c.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 |
3 | g.32997089G>C | CA351999970 | GLB1 | c.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) | |
3 | g.32997089G>T | CA351999971 | GLB1 | c.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) | |
3 | g.32997090G>A | CA432960136 | GLB1 | c.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 |
3 | g.32997090G>C | CA432960137 | GLB1 | c.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 |
3 | g.32997090G= | CA1355976897 | GLB1 | c.1989C= (p.Pro663=) c.1596C= (p.Pro532=) c.1899C= (p.Pro633=) c.2133C= (p.Pro711=) c.1734+16966C= (n.1734+16966C=) | |
3 | g.32997090G>T | CA432960138 | GLB1 | c.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) | |
3 | g.32997091G>A | CA351999973 | GLB1 | c.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 |
3 | g.32997091G>C | CA351999974 | GLB1 | c.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) | |
3 | g.32997091G>T | CA351999975 | GLB1 | c.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) | |
3 | g.32997092G>A | CA351999976 | GLB1 | c.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) | |
3 | g.32997092G>C | CA351999978 | GLB1 | c.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) | |
3 | g.32997092G>T | CA351999977 | GLB1 | c.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) | |
3 | g.32997093C>A | CA351999979 | GLB1 | c.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) | |
3 | g.32997093C= | CA1355976898 | GLB1 | c.1986G= (p.Met662=) c.1593G= (p.Met531=) c.1896G= (p.Met632=) c.2130G= (p.Met710=) c.1734+16963G= (n.1734+16963G=) | |
3 | g.32997093C>G | CA351999981 | GLB1 | c.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) | |
3 | g.32997093C>T | CA351999983 | GLB1 | c.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 |
3 | g.32997094A>C | CA351999985 | GLB1 | c.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) | |
3 | g.32997094A>G | CA351999986 | GLB1 | c.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) | |
3 | g.32997094A>T | CA351999987 | GLB1 | c.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) | |
3 | g.32997095T>A | CA351999988 | GLB1 | c.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 |
3 | g.32997095T>C | CA351999989 | GLB1 | c.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) | |
3 | g.32997095T>G | CA351999990 | GLB1 | c.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) | |
3 | g.32997096G>A | CA2299263 | GLB1 | c.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 |
3 | g.32997096G>C | CA432960139 | GLB1 | c.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) | |
3 | g.32997096G= | CA1355976899 | GLB1 | c.1983C= (p.Leu661=) c.1590C= (p.Leu530=) c.1893C= (p.Leu631=) c.2127C= (p.Leu709=) c.1734+16960C= (n.1734+16960C=) | |
3 | g.32997096G>T | CA432960140 | GLB1 | c.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) | |
3 | g.32997097A>C | CA351999994 | GLB1 | c.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) | |
3 | g.32997097A>G | CA351999993 | GLB1 | c.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) | |
3 | g.32997097A>T | CA351999992 | GLB1 | c.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) | |
3 | g.32997098G>A | CA2299264 | GLB1 | c.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 |
3 | g.32997098G>C | CA351999996 | GLB1 | c.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 |
3 | g.32997098G= | CA1355976900 | GLB1 | c.1981C= (p.Leu661=) c.1588C= (p.Leu530=) c.1891C= (p.Leu631=) c.2125C= (p.Leu709=) c.1734+16958C= (n.1734+16958C=) | |
3 | g.32997098G>T | CA351999995 | GLB1 | c.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 |
3 | g.32997099T>A | CA351999998 | GLB1 | c.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) | |
3 | g.32997099T>C | CA432960141 | GLB1 | c.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 |
3 | g.32997099T>G | CA352000000 | GLB1 | c.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) | |
3 | g.32997100C>A | CA2299265 | GLB1 | c.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 |
3 | g.32997100C= | CA1355976901 | GLB1 | c.1979G= (p.Arg660=) c.1586G= (p.Arg529=) c.1889G= (p.Arg630=) c.2123G= (p.Arg708=) c.1734+16956G= (n.1734+16956G=) | |
3 | g.32997100C>G | CA352000003 | GLB1 | c.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 |
3 | g.32997100C>T | CA352000005 | GLB1 | c.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 |
3 | g.32997100dup | CA2586971830 | GLB1 | c.1979dup (p.Leu661ThrfsTer?) c.1586dup (p.Leu530ThrfsTer?) c.1889dup (p.Leu631ThrfsTer?) c.2123dup (p.Leu709ThrfsTer?) c.1734+16956dup (n.1734+16956dup) | |
3 | g.32997101T>A | CA352000006 | GLB1 | c.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 |
3 | g.32997101T>C | CA352000007 | GLB1 | c.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 |
3 | g.32997101T>G | CA432960142 | GLB1 | c.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) | |
3 | g.32997101T= | CA1355976902 | GLB1 | c.1978A= (p.Arg660=) c.1585A= (p.Arg529=) c.1888A= (p.Arg630=) c.2122A= (p.Arg708=) c.1734+16955A= (n.1734+16955A=) | |
3 | g.32997106dup | CA2840067690 | GLB1 | c.1978dup (p.Arg660LysfsTer?) c.1585dup (p.Arg529LysfsTer?) c.1888dup (p.Arg630LysfsTer?) c.2122dup (p.Arg708LysfsTer?) c.1734+16955dup (n.1734+16955dup) | |
3 | g.32997102T>A | CA352000009 | GLB1 | c.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) | |
3 | g.32997102T>C | CA432960143 | GLB1 | c.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) | |
3 | g.32997102T>G | CA352000021 | GLB1 | c.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) | |
3 | g.32997103T>A | CA352000024 | GLB1 | c.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) | |
3 | g.32997103T>C | CA352000025 | GLB1 | c.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) | |
3 | g.32997103T>G | CA352000026 | GLB1 | c.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) | |
3 | g.32997104T>A | CA352000030 | GLB1 | c.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) | |
3 | g.32997104T>C | CA352000029 | GLB1 | c.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 |
3 | g.32997104T>G | CA352000027 | GLB1 | c.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) | |
3 | g.32997104T= | CA1355976903 | GLB1 | c.1975A= (p.Lys659=) c.1582A= (p.Lys528=) c.1885A= (p.Lys629=) c.2119A= (p.Lys707=) c.1734+16952A= (n.1734+16952A=) | |
3 | g.32997105T>A | CA352000031 | GLB1 | c.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) | |
3 | g.32997105T>C | CA432960144 | GLB1 | c.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) | |
3 | g.32997105T>G | CA352000032 | GLB1 | c.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) | |
3 | g.32997106T>A | CA352000033 | GLB1 | c.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) | |
3 | g.32997106T>C | CA352000035 | GLB1 | c.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) | |
3 | g.32997106T>G | CA352000036 | GLB1 | c.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) | |
3 | g.32997107C>A | CA352000038 | GLB1 | c.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 |
3 | g.32997107C= | CA1355976904 | GLB1 | c.1972G= (p.Glu658=) c.1579G= (p.Glu527=) c.1882G= (p.Glu628=) c.2116G= (p.Glu706=) c.1734+16949G= (n.1734+16949G=) | |
3 | g.32997107C>G | CA352000039 | GLB1 | c.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 |
3 | g.32997107C>T | CA2299266 | GLB1 | c.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 |
3 | g.32997108A>C | CA432960146 | GLB1 | c.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) | |
3 | g.32997108A>G | CA432960147 | GLB1 | c.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) | |
3 | g.32997108A>T | CA432960148 | GLB1 | c.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) | |
3 | g.32997109A>C | CA352000040 | GLB1 | c.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) | |
3 | g.32997109A>G | CA352000041 | GLB1 | c.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) | |
3 | g.32997109A>T | CA352000042 | GLB1 | c.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) | |
3 | g.32997110C>A | CA352000045 | GLB1 | c.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) | |
3 | g.32997110C= | CA1355976905 | GLB1 | c.1969G= (p.Val657=) c.1576G= (p.Val526=) c.1879G= (p.Val627=) c.2113G= (p.Val705=) c.1734+16946G= (n.1734+16946G=) | |
3 | g.32997110C>G | CA352000046 | GLB1 | c.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) | |
3 | g.32997110C>T | CA352000043 | GLB1 | c.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 |
3 | g.32997111A>C | CA432960151 | GLB1 | c.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) | |
3 | g.32997111A>G | CA432960153 | GLB1 | c.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 |
3 | g.32997111A>T | CA432960152 | GLB1 | c.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) | |
3 | g.32997112G>A | CA352000047 | GLB1 | c.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 |
3 | g.32997112G>C | CA352000048 | GLB1 | c.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) | |
3 | g.32997112G= | CA1355976906 | GLB1 | c.1967C= (p.Pro656=) c.1574C= (p.Pro525=) c.1877C= (p.Pro626=) c.2111C= (p.Pro704=) c.1734+16944C= (n.1734+16944C=) | |
3 | g.32997112G>T | CA352000049 | GLB1 | c.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) | |
3 | g.32997113G>A | CA352000051 | GLB1 | c.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 |
3 | g.32997113G>C | CA352000056 | GLB1 | c.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) | |
3 | g.32997113G>T | CA352000057 | GLB1 | c.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) | |
3 | g.32997114T>A | CA352000058 | GLB1 | c.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) | |
3 | g.32997114T>C | CA432960158 | GLB1 | c.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) | |
3 | g.32997114T>G | CA352000060 | GLB1 | c.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) | |
3 | g.32997115T>A | CA352000063 | GLB1 | c.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) | |
3 | g.32997115T>C | CA72667115 | GLB1 | c.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 |
3 | g.32997115T>G | CA352000065 | GLB1 | c.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) | |
3 | g.32997115T= | CA1355976907 | GLB1 | c.1964A= (p.Lys655=) c.1571A= (p.Lys524=) c.1874A= (p.Lys625=) c.2108A= (p.Lys703=) c.1734+16941A= (n.1734+16941A=) | |
3 | g.32997116T>A | CA352000067 | GLB1 | c.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) | |
3 | g.32997116T>C | CA352000068 | GLB1 | c.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) | |
3 | g.32997116T>G | CA352000066 | GLB1 | c.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) | |
3 | g.32997117G>A | CA432960162 | GLB1 | c.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) | |
3 | g.32997117G>C | CA432960163 | GLB1 | c.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) | |
3 | g.32997117G>T | CA432960164 | GLB1 | c.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) | |
3 | g.32997118G>A | CA2299267 | GLB1 | c.1961C>T (p.Ser654Phe) c.1568C>T (p.Ser523Phe) c.1871C>T (p.Ser624Phe) c.2105C>T (p.Ser702Phe) c.1734+16938C>T (n.1734+16938C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.32997118G>C | CA352000070 | GLB1 | c.1961C>G (p.Ser654Cys) c.1568C>G (p.Ser523Cys) c.1871C>G (p.Ser624Cys) c.2105C>G (p.Ser702Cys) c.1734+16938C>G (n.1734+16938C>G) | |
3 | g.32997118G= | CA1355976908 | GLB1 | c.1961C= (p.Ser654=) c.1568C= (p.Ser523=) c.1871C= (p.Ser624=) c.2105C= (p.Ser702=) c.1734+16938C= (n.1734+16938C=) | |
3 | g.32997118G>T | CA352000072 | GLB1 | c.1961C>A (p.Ser654Tyr) c.1568C>A (p.Ser523Tyr) c.1871C>A (p.Ser624Tyr) c.2105C>A (p.Ser702Tyr) c.1734+16938C>A (n.1734+16938C>A) | |
3 | g.32997119A= | CA1355976909 | GLB1 | c.1960T= (p.Ser654=) c.1567T= (p.Ser523=) c.1870T= (p.Ser624=) c.2104T= (p.Ser702=) c.1734+16937T= (n.1734+16937T=) | |
3 | g.32997119A>C | CA352000073 | GLB1 | c.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) | |
3 | g.32997119A>G | CA352000074 | GLB1 | c.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) | |
3 | g.32997119A>T | CA352000075 | GLB1 | c.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 |
3 | g.32997120G>A | CA432960167 | GLB1 | c.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 |
3 | g.32997120G>C | CA432960168 | GLB1 | c.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) | |
3 | g.32997120G= | CA1355976910 | GLB1 | c.1959C= (p.Pro653=) c.1566C= (p.Pro522=) c.1869C= (p.Pro623=) c.2103C= (p.Pro701=) c.1734+16936C= (n.1734+16936C=) | |
3 | g.32997120G>T | CA432960169 | GLB1 | c.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) | |
3 | g.32997122del | CA2664926656 | GLB1 | c.1959del (p.Ser654ProfsTer?) c.1566del (p.Ser523ProfsTer?) c.1869del (p.Ser624ProfsTer?) c.2103del (p.Ser702ProfsTer?) c.1734+16936del (n.1734+16936del) | gnomAD v4 |
3 | g.32997121G>A | CA352000076 | GLB1 | c.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) | |
3 | g.32997121G>C | CA352000082 | GLB1 | c.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) | |
3 | g.32997121G>T | CA352000078 | GLB1 | c.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) | |
3 | g.32997122G>A | CA352000083 | GLB1 | c.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 |
3 | g.32997122G>C | CA352000086 | GLB1 | c.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) | |
3 | g.32997122G>T | CA352000090 | GLB1 | c.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) | |
3 | g.32997123A>C | CA352000102 | GLB1 | c.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) | |
3 | g.32997123A>G | CA432960171 | GLB1 | c.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) | |
3 | g.32997123A>T | CA352000104 | GLB1 | c.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) | |
3 | g.32997124T>A | CA352000107 | GLB1 | c.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) | |
3 | g.32997124T>C | CA352000108 | GLB1 | c.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) | |
3 | g.32997124T>G | CA352000106 | GLB1 | c.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) | |
3 | g.32997125G>A | CA352000113 | GLB1 | c.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) | |
3 | g.32997125G>C | CA352000110 | GLB1 | c.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) | |
3 | g.32997125G>T | CA352000112 | GLB1 | c.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) | |
3 | g.32997126A>C | CA352000114 | GLB1 | c.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) | |
3 | g.32997126A>G | CA432960173 | GLB1 | c.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) | |
3 | g.32997126A>T | CA352000116 | GLB1 | c.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) | |
3 | g.32997127T>A | CA352000120 | GLB1 | c.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) | |
3 | g.32997127T>C | CA352000122 | GLB1 | c.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 |
3 | g.32997127T>G | CA352000124 | GLB1 | c.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) | |
3 | g.32997127T= | CA1355976911 | GLB1 | c.1952A= (p.Asp651=) c.1559A= (p.Asp520=) c.1862A= (p.Asp621=) c.2096A= (p.Asp699=) c.1734+16929A= (n.1734+16929A=) | |
3 | g.32997128C>A | CA352000126 | GLB1 | c.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) | |
3 | g.32997128C= | CA1355976912 | GLB1 | c.1951G= (p.Asp651=) c.1558G= (p.Asp520=) c.1861G= (p.Asp621=) c.2095G= (p.Asp699=) c.1734+16928G= (n.1734+16928G=) | |
3 | g.32997128C>G | CA2299268 | GLB1 | c.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 |
3 | g.32997128C>T | CA2299269 | GLB1 | c.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 |