Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
3 | g.32997129G>A | CA2299270 | GLB1 | c.1950C>T (p.Tyr650=) c.1557C>T (p.Tyr519=) c.1860C>T (p.Tyr620=) c.2094C>T (p.Tyr698=) c.1734+16927C>T (n.1734+16927C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.32997129G>C | CA352000132 | GLB1 | c.1950C>G (p.Tyr650Ter) c.1557C>G (p.Tyr519Ter) c.1860C>G (p.Tyr620Ter) c.2094C>G (p.Tyr698Ter) c.1734+16927C>G (n.1734+16927C>G) | |
3 | g.32997129G= | CA1355976913 | GLB1 | c.1950C= (p.Tyr650=) c.1557C= (p.Tyr519=) c.1860C= (p.Tyr620=) c.2094C= (p.Tyr698=) c.1734+16927C= (n.1734+16927C=) | |
3 | g.32997129G>T | CA352000134 | GLB1 | c.1950C>A (p.Tyr650Ter) c.1557C>A (p.Tyr519Ter) c.1860C>A (p.Tyr620Ter) c.2094C>A (p.Tyr698Ter) c.1734+16927C>A (n.1734+16927C>A) | |
3 | g.32997130T>A | CA352000141 | GLB1 | c.1949A>T (p.Tyr650Phe) c.1556A>T (p.Tyr519Phe) c.1859A>T (p.Tyr620Phe) c.2093A>T (p.Tyr698Phe) c.1734+16926A>T (n.1734+16926A>T) | |
3 | g.32997130T>C | CA352000136 | GLB1 | c.1949A>G (p.Tyr650Cys) c.1556A>G (p.Tyr519Cys) c.1859A>G (p.Tyr620Cys) c.2093A>G (p.Tyr698Cys) c.1734+16926A>G (n.1734+16926A>G) | |
3 | g.32997130T>G | CA352000139 | GLB1 | c.1949A>C (p.Tyr650Ser) c.1556A>C (p.Tyr519Ser) c.1859A>C (p.Tyr620Ser) c.2093A>C (p.Tyr698Ser) c.1734+16926A>C (n.1734+16926A>C) | |
3 | g.32997131A>C | CA352000142 | GLB1 | c.1948T>G (p.Tyr650Asp) c.1555T>G (p.Tyr519Asp) c.1858T>G (p.Tyr620Asp) c.2092T>G (p.Tyr698Asp) c.1734+16925T>G (n.1734+16925T>G) | |
3 | g.32997131A>G | CA352000143 | GLB1 | c.1948T>C (p.Tyr650His) c.1555T>C (p.Tyr519His) c.1858T>C (p.Tyr620His) c.2092T>C (p.Tyr698His) c.1734+16925T>C (n.1734+16925T>C) | |
3 | g.32997131A>T | CA352000144 | GLB1 | c.1948T>A (p.Tyr650Asn) c.1555T>A (p.Tyr519Asn) c.1858T>A (p.Tyr620Asn) c.2092T>A (p.Tyr698Asn) c.1734+16925T>A (n.1734+16925T>A) | |
3 | g.32997132G>A | CA432960179 | GLB1 | c.1947C>T (p.Thr649=) c.1554C>T (p.Thr518=) c.1857C>T (p.Thr619=) c.2091C>T (p.Thr697=) c.1734+16924C>T (n.1734+16924C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.32997132G>C | CA432960180 | GLB1 | c.1947C>G (p.Thr649=) c.1554C>G (p.Thr518=) c.1857C>G (p.Thr619=) c.2091C>G (p.Thr697=) c.1734+16924C>G (n.1734+16924C>G) | |
3 | g.32997132G= | CA1355976914 | GLB1 | c.1947C= (p.Thr649=) c.1554C= (p.Thr518=) c.1857C= (p.Thr619=) c.2091C= (p.Thr697=) c.1734+16924C= (n.1734+16924C=) | |
3 | g.32997132G>T | CA432960181 | GLB1 | c.1947C>A (p.Thr649=) c.1554C>A (p.Thr518=) c.1857C>A (p.Thr619=) c.2091C>A (p.Thr697=) c.1734+16924C>A (n.1734+16924C>A) | |
3 | g.32997133G>A | CA352000145 | GLB1 | c.1946C>T (p.Thr649Ile) c.1553C>T (p.Thr518Ile) c.1856C>T (p.Thr619Ile) c.2090C>T (p.Thr697Ile) c.1734+16923C>T (n.1734+16923C>T) | |
3 | g.32997133G>C | CA352000146 | GLB1 | c.1946C>G (p.Thr649Ser) c.1553C>G (p.Thr518Ser) c.1856C>G (p.Thr619Ser) c.2090C>G (p.Thr697Ser) c.1734+16923C>G (n.1734+16923C>G) | |
3 | g.32997133G>T | CA352000147 | GLB1 | c.1946C>A (p.Thr649Asn) c.1553C>A (p.Thr518Asn) c.1856C>A (p.Thr619Asn) c.2090C>A (p.Thr697Asn) c.1734+16923C>A (n.1734+16923C>A) | |
3 | g.32997134T>A | CA352000150 | GLB1 | c.1945A>T (p.Thr649Ser) c.1552A>T (p.Thr518Ser) c.1855A>T (p.Thr619Ser) c.2089A>T (p.Thr697Ser) c.1734+16922A>T (n.1734+16922A>T) | |
3 | g.32997134T>C | CA352000152 | GLB1 | c.1945A>G (p.Thr649Ala) c.1552A>G (p.Thr518Ala) c.1855A>G (p.Thr619Ala) c.2089A>G (p.Thr697Ala) c.1734+16922A>G (n.1734+16922A>G) | |
3 | g.32997134T>G | CA352000153 | GLB1 | c.1945A>C (p.Thr649Pro) c.1552A>C (p.Thr518Pro) c.1855A>C (p.Thr619Pro) c.2089A>C (p.Thr697Pro) c.1734+16922A>C (n.1734+16922A>C) | gnomAD v4 |
3 | g.32997135C>A | CA432960185 | GLB1 | c.1944G>T (p.Val648=) c.1551G>T (p.Val517=) c.1854G>T (p.Val618=) c.2088G>T (p.Val696=) c.1734+16921G>T (n.1734+16921G>T) | |
3 | g.32997135C>G | CA432960186 | GLB1 | c.1944G>C (p.Val648=) c.1551G>C (p.Val517=) c.1854G>C (p.Val618=) c.2088G>C (p.Val696=) c.1734+16921G>C (n.1734+16921G>C) | |
3 | g.32997135C>T | CA432960187 | GLB1 | c.1944G>A (p.Val648=) c.1551G>A (p.Val517=) c.1854G>A (p.Val618=) c.2088G>A (p.Val696=) c.1734+16921G>A (n.1734+16921G>A) | |
3 | g.32997136A>C | CA352000154 | GLB1 | c.1943T>G (p.Val648Gly) c.1550T>G (p.Val517Gly) c.1853T>G (p.Val618Gly) c.2087T>G (p.Val696Gly) c.1734+16920T>G (n.1734+16920T>G) | |
3 | g.32997136A>G | CA352000155 | GLB1 | c.1943T>C (p.Val648Ala) c.1550T>C (p.Val517Ala) c.1853T>C (p.Val618Ala) c.2087T>C (p.Val696Ala) c.1734+16920T>C (n.1734+16920T>C) | |
3 | g.32997136A>T | CA352000156 | GLB1 | c.1943T>A (p.Val648Glu) c.1550T>A (p.Val517Glu) c.1853T>A (p.Val618Glu) c.2087T>A (p.Val696Glu) c.1734+16920T>A (n.1734+16920T>A) | |
3 | g.32997137C>A | CA352000159 | GLB1 | c.1942G>T (p.Val648Leu) c.1549G>T (p.Val517Leu) c.1852G>T (p.Val618Leu) c.2086G>T (p.Val696Leu) c.1734+16919G>T (n.1734+16919G>T) | |
3 | g.32997137C>G | CA352000158 | GLB1 | c.1942G>C (p.Val648Leu) c.1549G>C (p.Val517Leu) c.1852G>C (p.Val618Leu) c.2086G>C (p.Val696Leu) c.1734+16919G>C (n.1734+16919G>C) | |
3 | g.32997137C>T | CA352000157 | GLB1 | c.1942G>A (p.Val648Met) c.1549G>A (p.Val517Met) c.1852G>A (p.Val618Met) c.2086G>A (p.Val696Met) c.1734+16919G>A (n.1734+16919G>A) | |
3 | g.32997138A>C | CA432960191 | GLB1 | c.1941T>G (p.Ser647=) c.1548T>G (p.Ser516=) c.1851T>G (p.Ser617=) c.2085T>G (p.Ser695=) c.1734+16918T>G (n.1734+16918T>G) | |
3 | g.32997138A>G | CA432960192 | GLB1 | c.1941T>C (p.Ser647=) c.1548T>C (p.Ser516=) c.1851T>C (p.Ser617=) c.2085T>C (p.Ser695=) c.1734+16918T>C (n.1734+16918T>C) | |
3 | g.32997138A>T | CA432960193 | GLB1 | c.1941T>A (p.Ser647=) c.1548T>A (p.Ser516=) c.1851T>A (p.Ser617=) c.2085T>A (p.Ser695=) c.1734+16918T>A (n.1734+16918T>A) | |
3 | g.32997139G>A | CA352000160 | GLB1 | c.1940C>T (p.Ser647Phe) c.1547C>T (p.Ser516Phe) c.1850C>T (p.Ser617Phe) c.2084C>T (p.Ser695Phe) c.1734+16917C>T (n.1734+16917C>T) | gnomAD v4 |
3 | g.32997139G>C | CA352000164 | GLB1 | c.1940C>G (p.Ser647Cys) c.1547C>G (p.Ser516Cys) c.1850C>G (p.Ser617Cys) c.2084C>G (p.Ser695Cys) c.1734+16917C>G (n.1734+16917C>G) | |
3 | g.32997139G>T | CA352000166 | GLB1 | c.1940C>A (p.Ser647Tyr) c.1547C>A (p.Ser516Tyr) c.1850C>A (p.Ser617Tyr) c.2084C>A (p.Ser695Tyr) c.1734+16917C>A (n.1734+16917C>A) | |
3 | g.32997140A= | CA1355976915 | GLB1 | c.1939T= (p.Ser647=) c.1546T= (p.Ser516=) c.1849T= (p.Ser617=) c.2083T= (p.Ser695=) c.1734+16916T= (n.1734+16916T=) | |
3 | g.32997140A>C | CA352000171 | GLB1 | c.1939T>G (p.Ser647Ala) c.1546T>G (p.Ser516Ala) c.1849T>G (p.Ser617Ala) c.2083T>G (p.Ser695Ala) c.1734+16916T>G (n.1734+16916T>G) | |
3 | g.32997140A>G | CA352000173 | GLB1 | c.1939T>C (p.Ser647Pro) c.1546T>C (p.Ser516Pro) c.1849T>C (p.Ser617Pro) c.2083T>C (p.Ser695Pro) c.1734+16916T>C (n.1734+16916T>C) | dbSNP |
3 | g.32997140A>T | CA352000176 | GLB1 | c.1939T>A (p.Ser647Thr) c.1546T>A (p.Ser516Thr) c.1849T>A (p.Ser617Thr) c.2083T>A (p.Ser695Thr) c.1734+16916T>A (n.1734+16916T>A) | |
3 | g.32997141T>A | CA432960195 | GLB1 | c.1938A>T (p.Ser646=) c.1545A>T (p.Ser515=) c.1848A>T (p.Ser616=) c.2082A>T (p.Ser694=) c.1734+16915A>T (n.1734+16915A>T) | |
3 | g.32997141T>C | CA2299271 | GLB1 | c.1938A>G (p.Ser646=) c.1545A>G (p.Ser515=) c.1848A>G (p.Ser616=) c.2082A>G (p.Ser694=) c.1734+16915A>G (n.1734+16915A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.32997141T>G | CA432960197 | GLB1 | c.1938A>C (p.Ser646=) c.1545A>C (p.Ser515=) c.1848A>C (p.Ser616=) c.2082A>C (p.Ser694=) c.1734+16915A>C (n.1734+16915A>C) | |
3 | g.32997141T= | CA1355976916 | GLB1 | c.1938A= (p.Ser646=) c.1545A= (p.Ser515=) c.1848A= (p.Ser616=) c.2082A= (p.Ser694=) c.1734+16915A= (n.1734+16915A=) | |
3 | g.32997142G>A | CA352000185 | GLB1 | c.1937C>T (p.Ser646Leu) c.1544C>T (p.Ser515Leu) c.1847C>T (p.Ser616Leu) c.2081C>T (p.Ser694Leu) c.1734+16914C>T (n.1734+16914C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.32997142G>C | CA352000186 | GLB1 | c.1937C>G (p.Ser646Ter) c.1544C>G (p.Ser515Ter) c.1847C>G (p.Ser616Ter) c.2081C>G (p.Ser694Ter) c.1734+16914C>G (n.1734+16914C>G) | gnomAD v4 |
3 | g.32997142G= | CA1355976917 | GLB1 | c.1937C= (p.Ser646=) c.1544C= (p.Ser515=) c.1847C= (p.Ser616=) c.2081C= (p.Ser694=) c.1734+16914C= (n.1734+16914C=) | |
3 | g.32997142G>T | CA352000192 | GLB1 | c.1937C>A (p.Ser646Ter) c.1544C>A (p.Ser515Ter) c.1847C>A (p.Ser616Ter) c.2081C>A (p.Ser694Ter) c.1734+16914C>A (n.1734+16914C>A) | |
3 | g.32997143A>C | CA352000194 | GLB1 | c.1936T>G (p.Ser646Ala) c.1543T>G (p.Ser515Ala) c.1846T>G (p.Ser616Ala) c.2080T>G (p.Ser694Ala) c.1734+16913T>G (n.1734+16913T>G) | |
3 | g.32997143A>G | CA352000195 | GLB1 | c.1936T>C (p.Ser646Pro) c.1543T>C (p.Ser515Pro) c.1846T>C (p.Ser616Pro) c.2080T>C (p.Ser694Pro) c.1734+16913T>C (n.1734+16913T>C) | |
3 | g.32997143A>T | CA352000196 | GLB1 | c.1936T>A (p.Ser646Thr) c.1543T>A (p.Ser515Thr) c.1846T>A (p.Ser616Thr) c.2080T>A (p.Ser694Thr) c.1734+16913T>A (n.1734+16913T>A) | |
3 | g.32997144G>A | CA432960199 | GLB1 | c.1935C>T (p.Gly645=) c.1542C>T (p.Gly514=) c.1845C>T (p.Gly615=) c.2079C>T (p.Gly693=) c.1734+16912C>T (n.1734+16912C>T) | |
3 | g.32997144G>C | CA432960200 | GLB1 | c.1935C>G (p.Gly645=) c.1542C>G (p.Gly514=) c.1845C>G (p.Gly615=) c.2079C>G (p.Gly693=) c.1734+16912C>G (n.1734+16912C>G) | |
3 | g.32997144G= | CA1355976918 | GLB1 | c.1935C= (p.Gly645=) c.1542C= (p.Gly514=) c.1845C= (p.Gly615=) c.2079C= (p.Gly693=) c.1734+16912C= (n.1734+16912C=) | |
3 | g.32997144G>T | CA432960201 | GLB1 | c.1935C>A (p.Gly645=) c.1542C>A (p.Gly514=) c.1845C>A (p.Gly615=) c.2079C>A (p.Gly693=) c.1734+16912C>A (n.1734+16912C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.32997145C>A | CA352000198 | GLB1 | c.1934G>T (p.Gly645Val) c.1541G>T (p.Gly514Val) c.1844G>T (p.Gly615Val) c.2078G>T (p.Gly693Val) c.1734+16911G>T (n.1734+16911G>T) | |
3 | g.32997145C>G | CA352000199 | GLB1 | c.1934G>C (p.Gly645Ala) c.1541G>C (p.Gly514Ala) c.1844G>C (p.Gly615Ala) c.2078G>C (p.Gly693Ala) c.1734+16911G>C (n.1734+16911G>C) | |
3 | g.32997145C>T | CA352000197 | GLB1 | c.1934G>A (p.Gly645Asp) c.1541G>A (p.Gly514Asp) c.1844G>A (p.Gly615Asp) c.2078G>A (p.Gly693Asp) c.1734+16911G>A (n.1734+16911G>A) | |
3 | g.32997146C>A | CA352000200 | GLB1 | c.1933G>T (p.Gly645Cys) c.1540G>T (p.Gly514Cys) c.1843G>T (p.Gly615Cys) c.2077G>T (p.Gly693Cys) c.1734+16910G>T (n.1734+16910G>T) | |
3 | g.32997146C>G | CA352000201 | GLB1 | c.1933G>C (p.Gly645Arg) c.1540G>C (p.Gly514Arg) c.1843G>C (p.Gly615Arg) c.2077G>C (p.Gly693Arg) c.1734+16910G>C (n.1734+16910G>C) | |
3 | g.32997146C>T | CA352000202 | GLB1 | c.1933G>A (p.Gly645Ser) c.1540G>A (p.Gly514Ser) c.1843G>A (p.Gly615Ser) c.2077G>A (p.Gly693Ser) c.1734+16910G>A (n.1734+16910G>A) | |
3 | g.32997147A>C | CA352000204 | GLB1 | c.1932T>G (p.Ile644Met) c.1539T>G (p.Ile513Met) c.1842T>G (p.Ile614Met) c.2076T>G (p.Ile692Met) c.1734+16909T>G (n.1734+16909T>G) | |
3 | g.32997147A>G | CA432960206 | GLB1 | c.1932T>C (p.Ile644=) c.1539T>C (p.Ile513=) c.1842T>C (p.Ile614=) c.2076T>C (p.Ile692=) c.1734+16909T>C (n.1734+16909T>C) | |
3 | g.32997147A>T | CA432960207 | GLB1 | c.1932T>A (p.Ile644=) c.1539T>A (p.Ile513=) c.1842T>A (p.Ile614=) c.2076T>A (p.Ile692=) c.1734+16909T>A (n.1734+16909T>A) | |
3 | g.32997148A= | CA1355976919 | GLB1 | c.1931T= (p.Ile644=) c.1538T= (p.Ile513=) c.1841T= (p.Ile614=) c.2075T= (p.Ile692=) c.1734+16908T= (n.1734+16908T=) | |
3 | g.32997148A>C | CA352000207 | GLB1 | c.1931T>G (p.Ile644Ser) c.1538T>G (p.Ile513Ser) c.1841T>G (p.Ile614Ser) c.2075T>G (p.Ile692Ser) c.1734+16908T>G (n.1734+16908T>G) | |
3 | g.32997148A>G | CA2299272 | GLB1 | c.1931T>C (p.Ile644Thr) c.1538T>C (p.Ile513Thr) c.1841T>C (p.Ile614Thr) c.2075T>C (p.Ile692Thr) c.1734+16908T>C (n.1734+16908T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.32997148A>T | CA352000205 | GLB1 | c.1931T>A (p.Ile644Asn) c.1538T>A (p.Ile513Asn) c.1841T>A (p.Ile614Asn) c.2075T>A (p.Ile692Asn) c.1734+16908T>A (n.1734+16908T>A) | |
3 | g.32997149T>A | CA352000212 | GLB1 | c.1930A>T (p.Ile644Phe) c.1537A>T (p.Ile513Phe) c.1840A>T (p.Ile614Phe) c.2074A>T (p.Ile692Phe) c.1734+16907A>T (n.1734+16907A>T) | |
3 | g.32997149T>C | CA352000214 | GLB1 | c.1930A>G (p.Ile644Val) c.1537A>G (p.Ile513Val) c.1840A>G (p.Ile614Val) c.2074A>G (p.Ile692Val) c.1734+16907A>G (n.1734+16907A>G) | |
3 | g.32997149T>G | CA352000216 | GLB1 | c.1930A>C (p.Ile644Leu) c.1537A>C (p.Ile513Leu) c.1840A>C (p.Ile614Leu) c.2074A>C (p.Ile692Leu) c.1734+16907A>C (n.1734+16907A>C) | |
3 | g.32997150A>C | CA432960211 | GLB1 | c.1929T>G (p.Val643=) c.1536T>G (p.Val512=) c.1839T>G (p.Val613=) c.2073T>G (p.Val691=) c.1734+16906T>G (n.1734+16906T>G) | |
3 | g.32997150A>G | CA432960213 | GLB1 | c.1929T>C (p.Val643=) c.1536T>C (p.Val512=) c.1839T>C (p.Val613=) c.2073T>C (p.Val691=) c.1734+16906T>C (n.1734+16906T>C) | |
3 | g.32997150A>T | CA432960214 | GLB1 | c.1929T>A (p.Val643=) c.1536T>A (p.Val512=) c.1839T>A (p.Val613=) c.2073T>A (p.Val691=) c.1734+16906T>A (n.1734+16906T>A) | |
3 | g.32997151A>C | CA352000218 | GLB1 | c.1928T>G (p.Val643Gly) c.1535T>G (p.Val512Gly) c.1838T>G (p.Val613Gly) c.2072T>G (p.Val691Gly) c.1734+16905T>G (n.1734+16905T>G) | |
3 | g.32997151A>G | CA352000220 | GLB1 | c.1928T>C (p.Val643Ala) c.1535T>C (p.Val512Ala) c.1838T>C (p.Val613Ala) c.2072T>C (p.Val691Ala) c.1734+16905T>C (n.1734+16905T>C) | |
3 | g.32997151A>T | CA352000222 | GLB1 | c.1928T>A (p.Val643Asp) c.1535T>A (p.Val512Asp) c.1838T>A (p.Val613Asp) c.2072T>A (p.Val691Asp) c.1734+16905T>A (n.1734+16905T>A) | |
3 | g.32997152C>A | CA352000225 | GLB1 | c.1927G>T (p.Val643Phe) c.1534G>T (p.Val512Phe) c.1837G>T (p.Val613Phe) c.2071G>T (p.Val691Phe) c.1734+16904G>T (n.1734+16904G>T) | gnomAD v4 |
3 | g.32997152C>G | CA352000229 | GLB1 | c.1927G>C (p.Val643Leu) c.1534G>C (p.Val512Leu) c.1837G>C (p.Val613Leu) c.2071G>C (p.Val691Leu) c.1734+16904G>C (n.1734+16904G>C) | |
3 | g.32997152C>T | CA352000227 | GLB1 | c.1927G>A (p.Val643Ile) c.1534G>A (p.Val512Ile) c.1837G>A (p.Val613Ile) c.2071G>A (p.Val691Ile) c.1734+16904G>A (n.1734+16904G>A) | |
3 | g.32997153T>A | CA432960219 | GLB1 | c.1926A>T (p.Pro642=) c.1533A>T (p.Pro511=) c.1836A>T (p.Pro612=) c.2070A>T (p.Pro690=) c.1734+16903A>T (n.1734+16903A>T) | |
3 | g.32997153T>C | CA432960220 | GLB1 | c.1926A>G (p.Pro642=) c.1533A>G (p.Pro511=) c.1836A>G (p.Pro612=) c.2070A>G (p.Pro690=) c.1734+16903A>G (n.1734+16903A>G) | |
3 | g.32997153T>G | CA432960218 | GLB1 | c.1926A>C (p.Pro642=) c.1533A>C (p.Pro511=) c.1836A>C (p.Pro612=) c.2070A>C (p.Pro690=) c.1734+16903A>C (n.1734+16903A>C) | |
3 | g.32997154G>A | CA352000231 | GLB1 | c.1925C>T (p.Pro642Leu) c.1532C>T (p.Pro511Leu) c.1835C>T (p.Pro612Leu) c.2069C>T (p.Pro690Leu) c.1734+16902C>T (n.1734+16902C>T) | |
3 | g.32997154G>C | CA352000235 | GLB1 | c.1925C>G (p.Pro642Arg) c.1532C>G (p.Pro511Arg) c.1835C>G (p.Pro612Arg) c.2069C>G (p.Pro690Arg) c.1734+16902C>G (n.1734+16902C>G) | |
3 | g.32997154G>T | CA352000233 | GLB1 | c.1925C>A (p.Pro642Gln) c.1532C>A (p.Pro511Gln) c.1835C>A (p.Pro612Gln) c.2069C>A (p.Pro690Gln) c.1734+16902C>A (n.1734+16902C>A) | |
3 | g.32997155del | CA2664926657 | GLB1 | c.1925del (p.Pro642GlnfsTer7) c.1532del (p.Pro511GlnfsTer7) c.1835del (p.Pro612GlnfsTer7) c.2069del (p.Pro690GlnfsTer7) c.1734+16902del (n.1734+16902del) | gnomAD v4 |
3 | g.32997155G>A | CA72667151 | GLB1 | c.1924C>T (p.Pro642Ser) c.1531C>T (p.Pro511Ser) c.1834C>T (p.Pro612Ser) c.2068C>T (p.Pro690Ser) c.1734+16901C>T (n.1734+16901C>T) | dbSNP gnomAD v4 |
3 | g.32997155G>C | CA352000241 | GLB1 | c.1924C>G (p.Pro642Ala) c.1531C>G (p.Pro511Ala) c.1834C>G (p.Pro612Ala) c.2068C>G (p.Pro690Ala) c.1734+16901C>G (n.1734+16901C>G) | |
3 | g.32997155G= | CA1355976920 | GLB1 | c.1924C= (p.Pro642=) c.1531C= (p.Pro511=) c.1834C= (p.Pro612=) c.2068C= (p.Pro690=) c.1734+16901C= (n.1734+16901C=) | |
3 | g.32997155G>T | CA352000239 | GLB1 | c.1924C>A (p.Pro642Thr) c.1531C>A (p.Pro511Thr) c.1834C>A (p.Pro612Thr) c.2068C>A (p.Pro690Thr) c.1734+16901C>A (n.1734+16901C>A) | gnomAD v4 |
3 | g.32997156C>A | CA352000243 | GLB1 | c.1923G>T (p.Arg641Ser) c.1530G>T (p.Arg510Ser) c.1833G>T (p.Arg611Ser) c.2067G>T (p.Arg689Ser) c.1734+16900G>T (n.1734+16900G>T) | |
3 | g.32997156C>G | CA352000246 | GLB1 | c.1923G>C (p.Arg641Ser) c.1530G>C (p.Arg510Ser) c.1833G>C (p.Arg611Ser) c.2067G>C (p.Arg689Ser) c.1734+16900G>C (n.1734+16900G>C) | |
3 | g.32997156C>T | CA432960224 | GLB1 | c.1923G>A (p.Arg641=) c.1530G>A (p.Arg510=) c.1833G>A (p.Arg611=) c.2067G>A (p.Arg689=) c.1734+16900G>A (n.1734+16900G>A) | |
3 | g.32997157C>A | CA352000247 | GLB1 | c.1922G>T (p.Arg641Met) c.1529G>T (p.Arg510Met) c.1832G>T (p.Arg611Met) c.2066G>T (p.Arg689Met) c.1734+16899G>T (n.1734+16899G>T) | |
3 | g.32997157C>G | CA352000251 | GLB1 | c.1922G>C (p.Arg641Thr) c.1529G>C (p.Arg510Thr) c.1832G>C (p.Arg611Thr) c.2066G>C (p.Arg689Thr) c.1734+16899G>C (n.1734+16899G>C) | |
3 | g.32997157C>T | CA352000249 | GLB1 | c.1922G>A (p.Arg641Lys) c.1529G>A (p.Arg510Lys) c.1832G>A (p.Arg611Lys) c.2066G>A (p.Arg689Lys) c.1734+16899G>A (n.1734+16899G>A) | |
3 | g.32997158T>A | CA352000253 | GLB1 | c.1921A>T (p.Arg641Trp) c.1528A>T (p.Arg510Trp) c.1831A>T (p.Arg611Trp) c.2065A>T (p.Arg689Trp) c.1734+16898A>T (n.1734+16898A>T) | |
3 | g.32997158T>C | CA352000255 | GLB1 | c.1921A>G (p.Arg641Gly) c.1528A>G (p.Arg510Gly) c.1831A>G (p.Arg611Gly) c.2065A>G (p.Arg689Gly) c.1734+16898A>G (n.1734+16898A>G) | gnomAD v4 |
3 | g.32997158T>G | CA432960226 | GLB1 | c.1921A>C (p.Arg641=) c.1528A>C (p.Arg510=) c.1831A>C (p.Arg611=) c.2065A>C (p.Arg689=) c.1734+16898A>C (n.1734+16898A>C) | |
3 | g.32997159G>A | CA432960228 | GLB1 | c.1920C>T (p.Asp640=) c.1527C>T (p.Asp509=) c.1830C>T (p.Asp610=) c.2064C>T (p.Asp688=) c.1734+16897C>T (n.1734+16897C>T) | |
3 | g.32997159G>C | CA352000257 | GLB1 | c.1920C>G (p.Asp640Glu) c.1527C>G (p.Asp509Glu) c.1830C>G (p.Asp610Glu) c.2064C>G (p.Asp688Glu) c.1734+16897C>G (n.1734+16897C>G) | |
3 | g.32997159G>T | CA352000259 | GLB1 | c.1920C>A (p.Asp640Glu) c.1527C>A (p.Asp509Glu) c.1830C>A (p.Asp610Glu) c.2064C>A (p.Asp688Glu) c.1734+16897C>A (n.1734+16897C>A) | |
3 | g.32997160T>A | CA352000261 | GLB1 | c.1919A>T (p.Asp640Val) c.1526A>T (p.Asp509Val) c.1829A>T (p.Asp610Val) c.2063A>T (p.Asp688Val) c.1734+16896A>T (n.1734+16896A>T) | gnomAD v4 |
3 | g.32997160T>C | CA352000263 | GLB1 | c.1919A>G (p.Asp640Gly) c.1526A>G (p.Asp509Gly) c.1829A>G (p.Asp610Gly) c.2063A>G (p.Asp688Gly) c.1734+16896A>G (n.1734+16896A>G) | gnomAD v4 |
3 | g.32997160T>G | CA352000265 | GLB1 | c.1919A>C (p.Asp640Ala) c.1526A>C (p.Asp509Ala) c.1829A>C (p.Asp610Ala) c.2063A>C (p.Asp688Ala) c.1734+16896A>C (n.1734+16896A>C) | |
3 | g.32997161C>A | CA220719 | GLB1 | c.1918G>T (p.Asp640Tyr) c.1525G>T (p.Asp509Tyr) c.1828G>T (p.Asp610Tyr) c.2062G>T (p.Asp688Tyr) c.1734+16895G>T (n.1734+16895G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.32997161C= | CA1355976921 | GLB1 | c.1918G= (p.Asp640=) c.1525G= (p.Asp509=) c.1828G= (p.Asp610=) c.2062G= (p.Asp688=) c.1734+16895G= (n.1734+16895G=) | |
3 | g.32997161C>G | CA352000267 | GLB1 | c.1918G>C (p.Asp640His) c.1525G>C (p.Asp509His) c.1828G>C (p.Asp610His) c.2062G>C (p.Asp688His) c.1734+16895G>C (n.1734+16895G>C) | |
3 | g.32997161C>T | CA352000268 | GLB1 | c.1918G>A (p.Asp640Asn) c.1525G>A (p.Asp509Asn) c.1828G>A (p.Asp610Asn) c.2062G>A (p.Asp688Asn) c.1734+16895G>A (n.1734+16895G>A) | |
3 | g.32997162C>A | CA432960232 | GLB1 | c.1917G>T (p.Val639=) c.1524G>T (p.Val508=) c.1827G>T (p.Val609=) c.2061G>T (p.Val687=) c.1734+16894G>T (n.1734+16894G>T) | |
3 | g.32997162C>G | CA432960233 | GLB1 | c.1917G>C (p.Val639=) c.1524G>C (p.Val508=) c.1827G>C (p.Val609=) c.2061G>C (p.Val687=) c.1734+16894G>C (n.1734+16894G>C) | ClinVar gnomAD v4 |
3 | g.32997162C>T | CA432960234 | GLB1 | c.1917G>A (p.Val639=) c.1524G>A (p.Val508=) c.1827G>A (p.Val609=) c.2061G>A (p.Val687=) c.1734+16894G>A (n.1734+16894G>A) | |
3 | g.32997163A>C | CA352000271 | GLB1 | c.1916T>G (p.Val639Gly) c.1523T>G (p.Val508Gly) c.1826T>G (p.Val609Gly) c.2060T>G (p.Val687Gly) c.1734+16893T>G (n.1734+16893T>G) | |
3 | g.32997163A>G | CA352000273 | GLB1 | c.1916T>C (p.Val639Ala) c.1523T>C (p.Val508Ala) c.1826T>C (p.Val609Ala) c.2060T>C (p.Val687Ala) c.1734+16893T>C (n.1734+16893T>C) | |
3 | g.32997163A>T | CA352000275 | GLB1 | c.1916T>A (p.Val639Glu) c.1523T>A (p.Val508Glu) c.1826T>A (p.Val609Glu) c.2060T>A (p.Val687Glu) c.1734+16893T>A (n.1734+16893T>A) | |
3 | g.32997164C>A | CA352000280 | GLB1 | c.1915G>T (p.Val639Leu) c.1522G>T (p.Val508Leu) c.1825G>T (p.Val609Leu) c.2059G>T (p.Val687Leu) c.1734+16892G>T (n.1734+16892G>T) | |
3 | g.32997164C= | CA1355976922 | GLB1 | c.1915G= (p.Val639=) c.1522G= (p.Val508=) c.1825G= (p.Val609=) c.2059G= (p.Val687=) c.1734+16892G= (n.1734+16892G=) | |
3 | g.32997164C>G | CA352000276 | GLB1 | c.1915G>C (p.Val639Leu) c.1522G>C (p.Val508Leu) c.1825G>C (p.Val609Leu) c.2059G>C (p.Val687Leu) c.1734+16892G>C (n.1734+16892G>C) | |
3 | g.32997164C>T | CA352000278 | GLB1 | c.1915G>A (p.Val639Met) c.1522G>A (p.Val508Met) c.1825G>A (p.Val609Met) c.2059G>A (p.Val687Met) c.1734+16892G>A (n.1734+16892G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.32997165G>A | CA72667156 | GLB1 | c.1914C>T (p.Phe638=) c.1521C>T (p.Phe507=) c.1824C>T (p.Phe608=) c.2058C>T (p.Phe686=) c.1734+16891C>T (n.1734+16891C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.32997165G>C | CA352000283 | GLB1 | c.1914C>G (p.Phe638Leu) c.1521C>G (p.Phe507Leu) c.1824C>G (p.Phe608Leu) c.2058C>G (p.Phe686Leu) c.1734+16891C>G (n.1734+16891C>G) | |
3 | g.32997165G= | CA1355976923 | GLB1 | c.1914C= (p.Phe638=) c.1521C= (p.Phe507=) c.1824C= (p.Phe608=) c.2058C= (p.Phe686=) c.1734+16891C= (n.1734+16891C=) | |
3 | g.32997165G>T | CA352000284 | GLB1 | c.1914C>A (p.Phe638Leu) c.1521C>A (p.Phe507Leu) c.1824C>A (p.Phe608Leu) c.2058C>A (p.Phe686Leu) c.1734+16891C>A (n.1734+16891C>A) | |
3 | g.32997166A>C | CA352000286 | GLB1 | c.1913T>G (p.Phe638Cys) c.1520T>G (p.Phe507Cys) c.1823T>G (p.Phe608Cys) c.2057T>G (p.Phe686Cys) c.1734+16890T>G (n.1734+16890T>G) | |
3 | g.32997166A>G | CA352000288 | GLB1 | c.1913T>C (p.Phe638Ser) c.1520T>C (p.Phe507Ser) c.1823T>C (p.Phe608Ser) c.2057T>C (p.Phe686Ser) c.1734+16890T>C (n.1734+16890T>C) | |
3 | g.32997166A>T | CA352000290 | GLB1 | c.1913T>A (p.Phe638Tyr) c.1520T>A (p.Phe507Tyr) c.1823T>A (p.Phe608Tyr) c.2057T>A (p.Phe686Tyr) c.1734+16890T>A (n.1734+16890T>A) | |
3 | g.32997167A>C | CA352000292 | GLB1 | c.1912T>G (p.Phe638Val) c.1519T>G (p.Phe507Val) c.1822T>G (p.Phe608Val) c.2056T>G (p.Phe686Val) c.1734+16889T>G (n.1734+16889T>G) | |
3 | g.32997167A>G | CA352000293 | GLB1 | c.1912T>C (p.Phe638Leu) c.1519T>C (p.Phe507Leu) c.1822T>C (p.Phe608Leu) c.2056T>C (p.Phe686Leu) c.1734+16889T>C (n.1734+16889T>C) | |
3 | g.32997167A>T | CA352000294 | GLB1 | c.1912T>A (p.Phe638Ile) c.1519T>A (p.Phe507Ile) c.1822T>A (p.Phe608Ile) c.2056T>A (p.Phe686Ile) c.1734+16889T>A (n.1734+16889T>A) | |
3 | g.32997168C>A | CA432960238 | GLB1 | c.1911G>T (p.Thr637=) c.1518G>T (p.Thr506=) c.1821G>T (p.Thr607=) c.2055G>T (p.Thr685=) c.1734+16888G>T (n.1734+16888G>T) | ClinVar COSMIC |
3 | g.32997168C= | CA1355976924 | GLB1 | c.1911G= (p.Thr637=) c.1518G= (p.Thr506=) c.1821G= (p.Thr607=) c.2055G= (p.Thr685=) c.1734+16888G= (n.1734+16888G=) | |
3 | g.32997168C>G | CA432960239 | GLB1 | c.1911G>C (p.Thr637=) c.1518G>C (p.Thr506=) c.1821G>C (p.Thr607=) c.2055G>C (p.Thr685=) c.1734+16888G>C (n.1734+16888G>C) | |
3 | g.32997168C>T | CA2299273 | GLB1 | c.1911G>A (p.Thr637=) c.1518G>A (p.Thr506=) c.1821G>A (p.Thr607=) c.2055G>A (p.Thr685=) c.1734+16888G>A (n.1734+16888G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.32997169G>A | CA2299274 | GLB1 | c.1910C>T (p.Thr637Met) c.1517C>T (p.Thr506Met) c.1820C>T (p.Thr607Met) c.2054C>T (p.Thr685Met) c.1734+16887C>T (n.1734+16887C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.32997169G>C | CA352000300 | GLB1 | c.1910C>G (p.Thr637Arg) c.1517C>G (p.Thr506Arg) c.1820C>G (p.Thr607Arg) c.2054C>G (p.Thr685Arg) c.1734+16887C>G (n.1734+16887C>G) | |
3 | g.32997169G= | CA1355976925 | GLB1 | c.1910C= (p.Thr637=) c.1517C= (p.Thr506=) c.1820C= (p.Thr607=) c.2054C= (p.Thr685=) c.1734+16887C= (n.1734+16887C=) | |
3 | g.32997169G>T | CA352000298 | GLB1 | c.1910C>A (p.Thr637Lys) c.1517C>A (p.Thr506Lys) c.1820C>A (p.Thr607Lys) c.2054C>A (p.Thr685Lys) c.1734+16887C>A (n.1734+16887C>A) | |
3 | g.32997170T>A | CA352000301 | GLB1 | c.1909A>T (p.Thr637Ser) c.1516A>T (p.Thr506Ser) c.1819A>T (p.Thr607Ser) c.2053A>T (p.Thr685Ser) c.1734+16886A>T (n.1734+16886A>T) | |
3 | g.32997170T>C | CA352000303 | GLB1 | c.1909A>G (p.Thr637Ala) c.1516A>G (p.Thr506Ala) c.1819A>G (p.Thr607Ala) c.2053A>G (p.Thr685Ala) c.1734+16886A>G (n.1734+16886A>G) | |
3 | g.32997170T>G | CA352000305 | GLB1 | c.1909A>C (p.Thr637Pro) c.1516A>C (p.Thr506Pro) c.1819A>C (p.Thr607Pro) c.2053A>C (p.Thr685Pro) c.1734+16886A>C (n.1734+16886A>C) | |
3 | g.32997171C>A | CA432960245 | GLB1 | c.1908G>T (p.Val636=) c.1515G>T (p.Val505=) c.1818G>T (p.Val606=) c.2052G>T (p.Val684=) c.1734+16885G>T (n.1734+16885G>T) | |
3 | g.32997171C>G | CA432960246 | GLB1 | c.1908G>C (p.Val636=) c.1515G>C (p.Val505=) c.1818G>C (p.Val606=) c.2052G>C (p.Val684=) c.1734+16885G>C (n.1734+16885G>C) | |
3 | g.32997171C>T | CA432960247 | GLB1 | c.1908G>A (p.Val636=) c.1515G>A (p.Val505=) c.1818G>A (p.Val606=) c.2052G>A (p.Val684=) c.1734+16885G>A (n.1734+16885G>A) | |
3 | g.32997172A>C | CA352000308 | GLB1 | c.1907T>G (p.Val636Gly) c.1514T>G (p.Val505Gly) c.1817T>G (p.Val606Gly) c.2051T>G (p.Val684Gly) c.1734+16884T>G (n.1734+16884T>G) | |
3 | g.32997172A>G | CA352000310 | GLB1 | c.1907T>C (p.Val636Ala) c.1514T>C (p.Val505Ala) c.1817T>C (p.Val606Ala) c.2051T>C (p.Val684Ala) c.1734+16884T>C (n.1734+16884T>C) | |
3 | g.32997172A>T | CA352000312 | GLB1 | c.1907T>A (p.Val636Glu) c.1514T>A (p.Val505Glu) c.1817T>A (p.Val606Glu) c.2051T>A (p.Val684Glu) c.1734+16884T>A (n.1734+16884T>A) | |
3 | g.32997173C>A | CA352000314 | GLB1 | c.1906G>T (p.Val636Leu) c.1513G>T (p.Val505Leu) c.1816G>T (p.Val606Leu) c.2050G>T (p.Val684Leu) c.1734+16883G>T (n.1734+16883G>T) | |
3 | g.32997173C= | CA1355976926 | GLB1 | c.1906G= (p.Val636=) c.1513G= (p.Val505=) c.1816G= (p.Val606=) c.2050G= (p.Val684=) c.1734+16883G= (n.1734+16883G=) | |
3 | g.32997173C>G | CA352000317 | GLB1 | c.1906G>C (p.Val636Leu) c.1513G>C (p.Val505Leu) c.1816G>C (p.Val606Leu) c.2050G>C (p.Val684Leu) c.1734+16883G>C (n.1734+16883G>C) | |
3 | g.32997173C>T | CA352000315 | GLB1 | c.1906G>A (p.Val636Met) c.1513G>A (p.Val505Met) c.1816G>A (p.Val606Met) c.2050G>A (p.Val684Met) c.1734+16883G>A (n.1734+16883G>A) | dbSNP |
3 | g.32997174A= | CA1355976927 | GLB1 | c.1905T= (p.Ala635=) c.1512T= (p.Ala504=) c.1815T= (p.Ala605=) c.2049T= (p.Ala683=) c.1734+16882T= (n.1734+16882T=) | |
3 | g.32997174A>C | CA432960252 | GLB1 | c.1905T>G (p.Ala635=) c.1512T>G (p.Ala504=) c.1815T>G (p.Ala605=) c.2049T>G (p.Ala683=) c.1734+16882T>G (n.1734+16882T>G) | |
3 | g.32997174A>G | CA72667162 | GLB1 | c.1905T>C (p.Ala635=) c.1512T>C (p.Ala504=) c.1815T>C (p.Ala605=) c.2049T>C (p.Ala683=) c.1734+16882T>C (n.1734+16882T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.32997174A>T | CA432960251 | GLB1 | c.1905T>A (p.Ala635=) c.1512T>A (p.Ala504=) c.1815T>A (p.Ala605=) c.2049T>A (p.Ala683=) c.1734+16882T>A (n.1734+16882T>A) | |
3 | g.32997175G>A | CA2299275 | GLB1 | c.1904C>T (p.Ala635Val) c.1511C>T (p.Ala504Val) c.1814C>T (p.Ala605Val) c.2048C>T (p.Ala683Val) c.1734+16881C>T (n.1734+16881C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.32997175G>C | CA352000322 | GLB1 | c.1904C>G (p.Ala635Gly) c.1511C>G (p.Ala504Gly) c.1814C>G (p.Ala605Gly) c.2048C>G (p.Ala683Gly) c.1734+16881C>G (n.1734+16881C>G) | |
3 | g.32997175G= | CA1355976928 | GLB1 | c.1904C= (p.Ala635=) c.1511C= (p.Ala504=) c.1814C= (p.Ala605=) c.2048C= (p.Ala683=) c.1734+16881C= (n.1734+16881C=) | |
3 | g.32997175G>T | CA352000323 | GLB1 | c.1904C>A (p.Ala635Asp) c.1511C>A (p.Ala504Asp) c.1814C>A (p.Ala605Asp) c.2048C>A (p.Ala683Asp) c.1734+16881C>A (n.1734+16881C>A) | |
3 | g.32997176C>A | CA352000325 | GLB1 | c.1903G>T (p.Ala635Ser) c.1510G>T (p.Ala504Ser) c.1813G>T (p.Ala605Ser) c.2047G>T (p.Ala683Ser) c.1734+16880G>T (n.1734+16880G>T) | ClinVar |
3 | g.32997176C= | CA1355976930 | GLB1 | c.1903G= (p.Ala635=) c.1510G= (p.Ala504=) c.1813G= (p.Ala605=) c.2047G= (p.Ala683=) c.1734+16880G= (n.1734+16880G=) | |
3 | g.32997176C>G | CA352000328 | GLB1 | c.1903G>C (p.Ala635Pro) c.1510G>C (p.Ala504Pro) c.1813G>C (p.Ala605Pro) c.2047G>C (p.Ala683Pro) c.1734+16880G>C (n.1734+16880G>C) | ClinVar dbSNP |
3 | g.32997176C>T | CA352000326 | GLB1 | c.1903G>A (p.Ala635Thr) c.1510G>A (p.Ala504Thr) c.1813G>A (p.Ala605Thr) c.2047G>A (p.Ala683Thr) c.1734+16880G>A (n.1734+16880G>A) | dbSNP |
3 | g.32997176_32997177delinsCA | CA1355976929 | GLB1 | c.1902_1903delinsTG (p.Cys634=) c.1509_1510delinsTG (p.Cys503=) c.1812_1813delinsTG (p.Cys604=) c.2046_2047delinsTG (p.Cys682=) c.1734+16879_1734+16880delinsTG (n.1734+16879_1734+16880delinsTG) | |
3 | g.32997177del | CA906337923 | GLB1 | c.1902del (p.Cys634TrpfsTer3) c.1509del (p.Cys503TrpfsTer3) c.1812del (p.Cys604TrpfsTer3) c.2046del (p.Cys682TrpfsTer3) c.1734+16879del (n.1734+16879del) | dbSNP gnomAD v4 |
3 | g.32997177A>C | CA352000330 | GLB1 | c.1902T>G (p.Cys634Trp) c.1509T>G (p.Cys503Trp) c.1812T>G (p.Cys604Trp) c.2046T>G (p.Cys682Trp) c.1734+16879T>G (n.1734+16879T>G) | |
3 | g.32997177A>G | CA432960253 | GLB1 | c.1902T>C (p.Cys634=) c.1509T>C (p.Cys503=) c.1812T>C (p.Cys604=) c.2046T>C (p.Cys682=) c.1734+16879T>C (n.1734+16879T>C) | |
3 | g.32997177A>T | CA352000332 | GLB1 | c.1902T>A (p.Cys634Ter) c.1509T>A (p.Cys503Ter) c.1812T>A (p.Cys604Ter) c.2046T>A (p.Cys682Ter) c.1734+16879T>A (n.1734+16879T>A) | |
3 | g.32997178C>A | CA352000334 | GLB1 | c.1901G>T (p.Cys634Phe) c.1508G>T (p.Cys503Phe) c.1811G>T (p.Cys604Phe) c.2045G>T (p.Cys682Phe) c.1734+16878G>T (n.1734+16878G>T) | |
3 | g.32997178C>G | CA352000336 | GLB1 | c.1901G>C (p.Cys634Ser) c.1508G>C (p.Cys503Ser) c.1811G>C (p.Cys604Ser) c.2045G>C (p.Cys682Ser) c.1734+16878G>C (n.1734+16878G>C) | |
3 | g.32997178C>T | CA352000337 | GLB1 | c.1901G>A (p.Cys634Tyr) c.1508G>A (p.Cys503Tyr) c.1811G>A (p.Cys604Tyr) c.2045G>A (p.Cys682Tyr) c.1734+16878G>A (n.1734+16878G>A) | gnomAD v4 |
3 | g.32997179A>C | CA352000339 | GLB1 | c.1900T>G (p.Cys634Gly) c.1507T>G (p.Cys503Gly) c.1810T>G (p.Cys604Gly) c.2044T>G (p.Cys682Gly) c.1734+16877T>G (n.1734+16877T>G) | |
3 | g.32997179A>G | CA352000341 | GLB1 | c.1900T>C (p.Cys634Arg) c.1507T>C (p.Cys503Arg) c.1810T>C (p.Cys604Arg) c.2044T>C (p.Cys682Arg) c.1734+16877T>C (n.1734+16877T>C) | |
3 | g.32997179A>T | CA352000343 | GLB1 | c.1900T>A (p.Cys634Ser) c.1507T>A (p.Cys503Ser) c.1810T>A (p.Cys604Ser) c.2044T>A (p.Cys682Ser) c.1734+16877T>A (n.1734+16877T>A) | |
3 | g.32997180T>A | CA432960257 | GLB1 | c.1899A>T (p.Leu633=) c.1506A>T (p.Leu502=) c.1809A>T (p.Leu603=) c.2043A>T (p.Leu681=) c.1734+16876A>T (n.1734+16876A>T) | ClinVar gnomAD v4 |
3 | g.32997180T>C | CA2299276 | GLB1 | c.1899A>G (p.Leu633=) c.1506A>G (p.Leu502=) c.1809A>G (p.Leu603=) c.2043A>G (p.Leu681=) c.1734+16876A>G (n.1734+16876A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.32997180T>G | CA432960258 | GLB1 | c.1899A>C (p.Leu633=) c.1506A>C (p.Leu502=) c.1809A>C (p.Leu603=) c.2043A>C (p.Leu681=) c.1734+16876A>C (n.1734+16876A>C) | gnomAD v4 |
3 | g.32997180T= | CA1355976931 | GLB1 | c.1899A= (p.Leu633=) c.1506A= (p.Leu502=) c.1809A= (p.Leu603=) c.2043A= (p.Leu681=) c.1734+16876A= (n.1734+16876A=) | |
3 | g.32997181A>C | CA352000346 | GLB1 | c.1898T>G (p.Leu633Arg) c.1505T>G (p.Leu502Arg) c.1808T>G (p.Leu603Arg) c.2042T>G (p.Leu681Arg) c.1734+16875T>G (n.1734+16875T>G) | |
3 | g.32997181A>G | CA352000348 | GLB1 | c.1898T>C (p.Leu633Pro) c.1505T>C (p.Leu502Pro) c.1808T>C (p.Leu603Pro) c.2042T>C (p.Leu681Pro) c.1734+16875T>C (n.1734+16875T>C) | |
3 | g.32997181A>T | CA352000353 | GLB1 | c.1898T>A (p.Leu633Gln) c.1505T>A (p.Leu502Gln) c.1808T>A (p.Leu603Gln) c.2042T>A (p.Leu681Gln) c.1734+16875T>A (n.1734+16875T>A) | |
3 | g.32997182G>A | CA432960260 | GLB1 | c.1897C>T (p.Leu633=) c.1504C>T (p.Leu502=) c.1807C>T (p.Leu603=) c.2041C>T (p.Leu681=) c.1734+16874C>T (n.1734+16874C>T) | |
3 | g.32997182G>C | CA352000355 | GLB1 | c.1897C>G (p.Leu633Val) c.1504C>G (p.Leu502Val) c.1807C>G (p.Leu603Val) c.2041C>G (p.Leu681Val) c.1734+16874C>G (n.1734+16874C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.32997182G= | CA1355976932 | GLB1 | c.1897C= (p.Leu633=) c.1504C= (p.Leu502=) c.1807C= (p.Leu603=) c.2041C= (p.Leu681=) c.1734+16874C= (n.1734+16874C=) | |
3 | g.32997182G>T | CA352000357 | GLB1 | c.1897C>A (p.Leu633Ile) c.1504C>A (p.Leu502Ile) c.1807C>A (p.Leu603Ile) c.2041C>A (p.Leu681Ile) c.1734+16874C>A (n.1734+16874C>A) | |
3 | g.32997183T>A | CA352000359 | GLB1 | c.1896A>T (p.Glu632Asp) c.1503A>T (p.Glu501Asp) c.1806A>T (p.Glu602Asp) c.2040A>T (p.Glu680Asp) c.1734+16873A>T (n.1734+16873A>T) | |
3 | g.32997183T>C | CA2299277 | GLB1 | c.1896A>G (p.Glu632=) c.1503A>G (p.Glu501=) c.1806A>G (p.Glu602=) c.2040A>G (p.Glu680=) c.1734+16873A>G (n.1734+16873A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.32997183T>G | CA352000361 | GLB1 | c.1896A>C (p.Glu632Asp) c.1503A>C (p.Glu501Asp) c.1806A>C (p.Glu602Asp) c.2040A>C (p.Glu680Asp) c.1734+16873A>C (n.1734+16873A>C) | |
3 | g.32997183T= | CA1355976933 | GLB1 | c.1896A= (p.Glu632=) c.1503A= (p.Glu501=) c.1806A= (p.Glu602=) c.2040A= (p.Glu680=) c.1734+16873A= (n.1734+16873A=) | |
3 | g.32997184T>A | CA352000365 | GLB1 | c.1895A>T (p.Glu632Val) c.1502A>T (p.Glu501Val) c.1805A>T (p.Glu602Val) c.2039A>T (p.Glu680Val) c.1734+16872A>T (n.1734+16872A>T) | |
3 | g.32997184T>C | CA352000366 | GLB1 | c.1895A>G (p.Glu632Gly) c.1502A>G (p.Glu501Gly) c.1805A>G (p.Glu602Gly) c.2039A>G (p.Glu680Gly) c.1734+16872A>G (n.1734+16872A>G) | gnomAD v4 |
3 | g.32997184T>G | CA352000367 | GLB1 | c.1895A>C (p.Glu632Ala) c.1502A>C (p.Glu501Ala) c.1805A>C (p.Glu602Ala) c.2039A>C (p.Glu680Ala) c.1734+16872A>C (n.1734+16872A>C) | |
3 | g.32997185C>A | CA352000369 | GLB1 | c.1894G>T (p.Glu632Ter) c.1501G>T (p.Glu501Ter) c.1804G>T (p.Glu602Ter) c.2038G>T (p.Glu680Ter) c.1734+16871G>T (n.1734+16871G>T) | |
3 | g.32997185C= | CA1355976934 | GLB1 | c.1894G= (p.Glu632=) c.1501G= (p.Glu501=) c.1804G= (p.Glu602=) c.2038G= (p.Glu680=) c.1734+16871G= (n.1734+16871G=) | |
3 | g.32997185C>G | CA72667171 | GLB1 | c.1894G>C (p.Glu632Gln) c.1501G>C (p.Glu501Gln) c.1804G>C (p.Glu602Gln) c.2038G>C (p.Glu680Gln) c.1734+16871G>C (n.1734+16871G>C) | dbSNP |
3 | g.32997185C>T | CA352000372 | GLB1 | c.1894G>A (p.Glu632Lys) c.1501G>A (p.Glu501Lys) c.1804G>A (p.Glu602Lys) c.2038G>A (p.Glu680Lys) c.1734+16871G>A (n.1734+16871G>A) | dbSNP |
3 | g.32997186T>A | CA432960265 | GLB1 | c.1893A>T (p.Pro631=) c.1500A>T (p.Pro500=) c.1803A>T (p.Pro601=) c.2037A>T (p.Pro679=) c.1734+16870A>T (n.1734+16870A>T) | |
3 | g.32997186T>C | CA432960266 | GLB1 | c.1893A>G (p.Pro631=) c.1500A>G (p.Pro500=) c.1803A>G (p.Pro601=) c.2037A>G (p.Pro679=) c.1734+16870A>G (n.1734+16870A>G) | |
3 | g.32997186T>G | CA432960267 | GLB1 | c.1893A>C (p.Pro631=) c.1500A>C (p.Pro500=) c.1803A>C (p.Pro601=) c.2037A>C (p.Pro679=) c.1734+16870A>C (n.1734+16870A>C) | gnomAD v4 |
3 | g.32997187G>A | CA352000374 | GLB1 | c.1892C>T (p.Pro631Leu) c.1499C>T (p.Pro500Leu) c.1802C>T (p.Pro601Leu) c.2036C>T (p.Pro679Leu) c.1734+16869C>T (n.1734+16869C>T) | |
3 | g.32997187G>C | CA352000376 | GLB1 | c.1892C>G (p.Pro631Arg) c.1499C>G (p.Pro500Arg) c.1802C>G (p.Pro601Arg) c.2036C>G (p.Pro679Arg) c.1734+16869C>G (n.1734+16869C>G) | |
3 | g.32997187G>T | CA352000377 | GLB1 | c.1892C>A (p.Pro631Gln) c.1499C>A (p.Pro500Gln) c.1802C>A (p.Pro601Gln) c.2036C>A (p.Pro679Gln) c.1734+16869C>A (n.1734+16869C>A) | |
3 | g.32997188del | CA2755763345 | GLB1 | c.1892del (p.Pro631GlnfsTer6) c.1499del (p.Pro500GlnfsTer6) c.1802del (p.Pro601GlnfsTer6) c.2036del (p.Pro679GlnfsTer6) c.1734+16869del (n.1734+16869del) | |
3 | g.32997188G>A | CA352000379 | GLB1 | c.1891C>T (p.Pro631Ser) c.1498C>T (p.Pro500Ser) c.1801C>T (p.Pro601Ser) c.2035C>T (p.Pro679Ser) c.1734+16868C>T (n.1734+16868C>T) | gnomAD v4 |
3 | g.32997188G>C | CA352000380 | GLB1 | c.1891C>G (p.Pro631Ala) c.1498C>G (p.Pro500Ala) c.1801C>G (p.Pro601Ala) c.2035C>G (p.Pro679Ala) c.1734+16868C>G (n.1734+16868C>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.32997188G= | CA1355976935 | GLB1 | c.1891C= (p.Pro631=) c.1498C= (p.Pro500=) c.1801C= (p.Pro601=) c.2035C= (p.Pro679=) c.1734+16868C= (n.1734+16868C=) | |
3 | g.32997188G>T | CA352000382 | GLB1 | c.1891C>A (p.Pro631Thr) c.1498C>A (p.Pro500Thr) c.1801C>A (p.Pro601Thr) c.2035C>A (p.Pro679Thr) c.1734+16868C>A (n.1734+16868C>A) | gnomAD v4 |
3 | g.32997189A>C | CA352000386 | GLB1 | c.1890T>G (p.Asp630Glu) c.1497T>G (p.Asp499Glu) c.1800T>G (p.Asp600Glu) c.2034T>G (p.Asp678Glu) c.1734+16867T>G (n.1734+16867T>G) | |
3 | g.32997189A>G | CA432960273 | GLB1 | c.1890T>C (p.Asp630=) c.1497T>C (p.Asp499=) c.1800T>C (p.Asp600=) c.2034T>C (p.Asp678=) c.1734+16867T>C (n.1734+16867T>C) | |
3 | g.32997189A>T | CA352000384 | GLB1 | c.1890T>A (p.Asp630Glu) c.1497T>A (p.Asp499Glu) c.1800T>A (p.Asp600Glu) c.2034T>A (p.Asp678Glu) c.1734+16867T>A (n.1734+16867T>A) | |
3 | g.32997190T>A | CA352000388 | GLB1 | c.1889A>T (p.Asp630Val) c.1496A>T (p.Asp499Val) c.1799A>T (p.Asp600Val) c.2033A>T (p.Asp678Val) c.1734+16866A>T (n.1734+16866A>T) | gnomAD v4 |
3 | g.32997190T>C | CA2299278 | GLB1 | c.1889A>G (p.Asp630Gly) c.1496A>G (p.Asp499Gly) c.1799A>G (p.Asp600Gly) c.2033A>G (p.Asp678Gly) c.1734+16866A>G (n.1734+16866A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.32997190T>G | CA352000390 | GLB1 | c.1889A>C (p.Asp630Ala) c.1496A>C (p.Asp499Ala) c.1799A>C (p.Asp600Ala) c.2033A>C (p.Asp678Ala) c.1734+16866A>C (n.1734+16866A>C) | |
3 | g.32997190T= | CA1355976936 | GLB1 | c.1889A= (p.Asp630=) c.1496A= (p.Asp499=) c.1799A= (p.Asp600=) c.2033A= (p.Asp678=) c.1734+16866A= (n.1734+16866A=) | |
3 | g.32997191C>A | CA352000392 | GLB1 | c.1888G>T (p.Asp630Tyr) c.1495G>T (p.Asp499Tyr) c.1798G>T (p.Asp600Tyr) c.2032G>T (p.Asp678Tyr) c.1734+16865G>T (n.1734+16865G>T) | |
3 | g.32997191C= | CA1355976937 | GLB1 | c.1888G= (p.Asp630=) c.1495G= (p.Asp499=) c.1798G= (p.Asp600=) c.2032G= (p.Asp678=) c.1734+16865G= (n.1734+16865G=) | |
3 | g.32997191C>G | CA352000393 | GLB1 | c.1888G>C (p.Asp630His) c.1495G>C (p.Asp499His) c.1798G>C (p.Asp600His) c.2032G>C (p.Asp678His) c.1734+16865G>C (n.1734+16865G>C) | |
3 | g.32997191C>T | CA352000395 | GLB1 | c.1888G>A (p.Asp630Asn) c.1495G>A (p.Asp499Asn) c.1798G>A (p.Asp600Asn) c.2032G>A (p.Asp678Asn) c.1734+16865G>A (n.1734+16865G>A) | dbSNP |
3 | g.32997192A>C | CA352000397 | GLB1 | c.1887T>G (p.Asp629Glu) c.1494T>G (p.Asp498Glu) c.1797T>G (p.Asp599Glu) c.2031T>G (p.Asp677Glu) c.1734+16864T>G (n.1734+16864T>G) | |
3 | g.32997192A>G | CA432960278 | GLB1 | c.1887T>C (p.Asp629=) c.1494T>C (p.Asp498=) c.1797T>C (p.Asp599=) c.2031T>C (p.Asp677=) c.1734+16864T>C (n.1734+16864T>C) | |
3 | g.32997192A>T | CA352000399 | GLB1 | c.1887T>A (p.Asp629Glu) c.1494T>A (p.Asp498Glu) c.1797T>A (p.Asp599Glu) c.2031T>A (p.Asp677Glu) c.1734+16864T>A (n.1734+16864T>A) | |
3 | g.32997193T>A | CA352000401 | GLB1 | c.1886A>T (p.Asp629Val) c.1493A>T (p.Asp498Val) c.1796A>T (p.Asp599Val) c.2030A>T (p.Asp677Val) c.1734+16863A>T (n.1734+16863A>T) | |
3 | g.32997193T>C | CA352000403 | GLB1 | c.1886A>G (p.Asp629Gly) c.1493A>G (p.Asp498Gly) c.1796A>G (p.Asp599Gly) c.2030A>G (p.Asp677Gly) c.1734+16863A>G (n.1734+16863A>G) | |
3 | g.32997193T>G | CA352000405 | GLB1 | c.1886A>C (p.Asp629Ala) c.1493A>C (p.Asp498Ala) c.1796A>C (p.Asp599Ala) c.2030A>C (p.Asp677Ala) c.1734+16863A>C (n.1734+16863A>C) | |
3 | g.32997194C>A | CA352000411 | GLB1 | c.1885G>T (p.Asp629Tyr) c.1492G>T (p.Asp498Tyr) c.1795G>T (p.Asp599Tyr) c.2029G>T (p.Asp677Tyr) c.1734+16862G>T (n.1734+16862G>T) | |
3 | g.32997194C= | CA1355976938 | GLB1 | c.1885G= (p.Asp629=) c.1492G= (p.Asp498=) c.1795G= (p.Asp599=) c.2029G= (p.Asp677=) c.1734+16862G= (n.1734+16862G=) | |
3 | g.32997194C>G | CA352000409 | GLB1 | c.1885G>C (p.Asp629His) c.1492G>C (p.Asp498His) c.1795G>C (p.Asp599His) c.2029G>C (p.Asp677His) c.1734+16862G>C (n.1734+16862G>C) | |
3 | g.32997194C>T | CA352000407 | GLB1 | c.1885G>A (p.Asp629Asn) c.1492G>A (p.Asp498Asn) c.1795G>A (p.Asp599Asn) c.2029G>A (p.Asp677Asn) c.1734+16862G>A (n.1734+16862G>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.32997195A>C | CA352000412 | GLB1 | c.1884T>G (p.Ser628Arg) c.1491T>G (p.Ser497Arg) c.1794T>G (p.Ser598Arg) c.2028T>G (p.Ser676Arg) c.1734+16861T>G (n.1734+16861T>G) | |
3 | g.32997195A>G | CA432960283 | GLB1 | c.1884T>C (p.Ser628=) c.1491T>C (p.Ser497=) c.1794T>C (p.Ser598=) c.2028T>C (p.Ser676=) c.1734+16861T>C (n.1734+16861T>C) | |
3 | g.32997195A>T | CA352000414 | GLB1 | c.1884T>A (p.Ser628Arg) c.1491T>A (p.Ser497Arg) c.1794T>A (p.Ser598Arg) c.2028T>A (p.Ser676Arg) c.1734+16861T>A (n.1734+16861T>A) | |
3 | g.32997196C>A | CA352000417 | GLB1 | c.1883G>T (p.Ser628Ile) c.1490G>T (p.Ser497Ile) c.1793G>T (p.Ser598Ile) c.2027G>T (p.Ser676Ile) c.1734+16860G>T (n.1734+16860G>T) | |
3 | g.32997196C= | CA1355976939 | GLB1 | c.1883G= (p.Ser628=) c.1490G= (p.Ser497=) c.1793G= (p.Ser598=) c.2027G= (p.Ser676=) c.1734+16860G= (n.1734+16860G=) | |
3 | g.32997196C>G | CA352000419 | GLB1 | c.1883G>C (p.Ser628Thr) c.1490G>C (p.Ser497Thr) c.1793G>C (p.Ser598Thr) c.2027G>C (p.Ser676Thr) c.1734+16860G>C (n.1734+16860G>C) | |
3 | g.32997196C>T | CA2299279 | GLB1 | c.1883G>A (p.Ser628Asn) c.1490G>A (p.Ser497Asn) c.1793G>A (p.Ser598Asn) c.2027G>A (p.Ser676Asn) c.1734+16860G>A (n.1734+16860G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.32997197T>A | CA352000422 | GLB1 | c.1882A>T (p.Ser628Cys) c.1489A>T (p.Ser497Cys) c.1792A>T (p.Ser598Cys) c.2026A>T (p.Ser676Cys) c.1734+16859A>T (n.1734+16859A>T) | |
3 | g.32997197T>C | CA352000423 | GLB1 | c.1882A>G (p.Ser628Gly) c.1489A>G (p.Ser497Gly) c.1792A>G (p.Ser598Gly) c.2026A>G (p.Ser676Gly) c.1734+16859A>G (n.1734+16859A>G) | |
3 | g.32997197T>G | CA352000425 | GLB1 | c.1882A>C (p.Ser628Arg) c.1489A>C (p.Ser497Arg) c.1792A>C (p.Ser598Arg) c.2026A>C (p.Ser676Arg) c.1734+16859A>C (n.1734+16859A>C) | |
3 | g.32997198G>A | CA432960287 | GLB1 | c.1881C>T (p.Ser627=) c.1488C>T (p.Ser496=) c.1791C>T (p.Ser597=) c.2025C>T (p.Ser675=) c.1734+16858C>T (n.1734+16858C>T) | |
3 | g.32997198G>C | CA352000427 | GLB1 | c.1881C>G (p.Ser627Arg) c.1488C>G (p.Ser496Arg) c.1791C>G (p.Ser597Arg) c.2025C>G (p.Ser675Arg) c.1734+16858C>G (n.1734+16858C>G) | |
3 | g.32997198G>T | CA352000429 | GLB1 | c.1881C>A (p.Ser627Arg) c.1488C>A (p.Ser496Arg) c.1791C>A (p.Ser597Arg) c.2025C>A (p.Ser675Arg) c.1734+16858C>A (n.1734+16858C>A) | |
3 | g.32997199C>A | CA352000432 | GLB1 | c.1880G>T (p.Ser627Ile) c.1487G>T (p.Ser496Ile) c.1790G>T (p.Ser597Ile) c.2024G>T (p.Ser675Ile) c.1734+16857G>T (n.1734+16857G>T) | |
3 | g.32997199C= | CA1355976940 | GLB1 | c.1880G= (p.Ser627=) c.1487G= (p.Ser496=) c.1790G= (p.Ser597=) c.2024G= (p.Ser675=) c.1734+16857G= (n.1734+16857G=) | |
3 | g.32997199C>G | CA352000434 | GLB1 | c.1880G>C (p.Ser627Thr) c.1487G>C (p.Ser496Thr) c.1790G>C (p.Ser597Thr) c.2024G>C (p.Ser675Thr) c.1734+16857G>C (n.1734+16857G>C) | |
3 | g.32997199C>T | CA352000435 | GLB1 | c.1880G>A (p.Ser627Asn) c.1487G>A (p.Ser496Asn) c.1790G>A (p.Ser597Asn) c.2024G>A (p.Ser675Asn) c.1734+16857G>A (n.1734+16857G>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.32997200T>A | CA352000437 | GLB1 | c.1879A>T (p.Ser627Cys) c.1486A>T (p.Ser496Cys) c.1789A>T (p.Ser597Cys) c.2023A>T (p.Ser675Cys) c.1734+16856A>T (n.1734+16856A>T) | |
3 | g.32997200T>C | CA352000439 | GLB1 | c.1879A>G (p.Ser627Gly) c.1486A>G (p.Ser496Gly) c.1789A>G (p.Ser597Gly) c.2023A>G (p.Ser675Gly) c.1734+16856A>G (n.1734+16856A>G) | |
3 | g.32997200T>G | CA2299280 | GLB1 | c.1879A>C (p.Ser627Arg) c.1486A>C (p.Ser496Arg) c.1789A>C (p.Ser597Arg) c.2023A>C (p.Ser675Arg) c.1734+16856A>C (n.1734+16856A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.32997200T= | CA1355976941 | GLB1 | c.1879A= (p.Ser627=) c.1486A= (p.Ser496=) c.1789A= (p.Ser597=) c.2023A= (p.Ser675=) c.1734+16856A= (n.1734+16856A=) |