| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33014102G>A | CA351983848 | GLB1 | c.1688C>T (p.Pro563Leu) c.1295C>T (p.Pro432Leu) c.1598C>T (p.Pro533Leu) n.787C>T c.1832C>T (p.Pro611Leu) | |
| 3 | g.33014102G>C | CA351983856 | GLB1 | c.1688C>G (p.Pro563Arg) c.1295C>G (p.Pro432Arg) c.1598C>G (p.Pro533Arg) n.787C>G c.1832C>G (p.Pro611Arg) | |
| 3 | g.33014102G>T | CA351983861 | GLB1 | c.1688C>A (p.Pro563Gln) c.1295C>A (p.Pro432Gln) c.1598C>A (p.Pro533Gln) n.787C>A c.1832C>A (p.Pro611Gln) | |
| 3 | g.33014103G>A | CA351983862 | GLB1 | c.1687C>T (p.Pro563Ser) c.1294C>T (p.Pro432Ser) c.1597C>T (p.Pro533Ser) n.786C>T c.1831C>T (p.Pro611Ser) | gnomAD v4 COSMIC COSMIC |
| 3 | g.33014103G>C | CA2299328 | GLB1 | c.1687C>G (p.Pro563Ala) c.1294C>G (p.Pro432Ala) c.1597C>G (p.Pro533Ala) n.786C>G c.1831C>G (p.Pro611Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.33014103G= | CA1355984285 | GLB1 | c.1687C= (p.Pro563=) c.1294C= (p.Pro432=) c.1597C= (p.Pro533=) n.786C= c.1831C= (p.Pro611=) | |
| 3 | g.33014103G>T | CA351983875 | GLB1 | c.1687C>A (p.Pro563Thr) c.1294C>A (p.Pro432Thr) c.1597C>A (p.Pro533Thr) n.786C>A c.1831C>A (p.Pro611Thr) | |
| 3 | g.33014104G>A | CA432952571 | GLB1 | c.1686C>T (p.Ile562=) c.1293C>T (p.Ile431=) c.1596C>T (p.Ile532=) n.785C>T c.1830C>T (p.Ile610=) | |
| 3 | g.33014104G>C | CA351983882 | GLB1 | c.1686C>G (p.Ile562Met) c.1293C>G (p.Ile431Met) c.1596C>G (p.Ile532Met) n.785C>G c.1830C>G (p.Ile610Met) | |
| 3 | g.33014104G= | CA1355984286 | GLB1 | c.1686C= (p.Ile562=) c.1293C= (p.Ile431=) c.1596C= (p.Ile532=) n.785C= c.1830C= (p.Ile610=) | |
| 3 | g.33014104G>T | CA432952572 | GLB1 | c.1686C>A (p.Ile562=) c.1293C>A (p.Ile431=) c.1596C>A (p.Ile532=) n.785C>A c.1830C>A (p.Ile610=) | |
| 3 | g.33014105A>C | CA351983892 | GLB1 | c.1685T>G (p.Ile562Ser) c.1292T>G (p.Ile431Ser) c.1595T>G (p.Ile532Ser) n.784T>G c.1829T>G (p.Ile610Ser) | |
| 3 | g.33014105A>G | CA351983893 | GLB1 | c.1685T>C (p.Ile562Thr) c.1292T>C (p.Ile431Thr) c.1595T>C (p.Ile532Thr) n.784T>C c.1829T>C (p.Ile610Thr) | |
| 3 | g.33014105A>T | CA351983896 | GLB1 | c.1685T>A (p.Ile562Asn) c.1292T>A (p.Ile431Asn) c.1595T>A (p.Ile532Asn) n.784T>A c.1829T>A (p.Ile610Asn) | |
| 3 | g.33014105dup | CA1139657922 | GLB1 | c.1685dup (p.Asp564ArgfsTer21) c.1292dup (p.Asp433ArgfsTer21) c.1595dup (p.Asp534ArgfsTer21) n.784dup c.1829dup (p.Asp612ArgfsTer21) c.1685dup (p.Asp564ArgfsTer?) | ClinVar dbSNP |
| 3 | g.33014106T>A | CA351983912 | GLB1 | c.1684A>T (p.Ile562Phe) c.1291A>T (p.Ile431Phe) c.1594A>T (p.Ile532Phe) n.783A>T c.1828A>T (p.Ile610Phe) | |
| 3 | g.33014106T>C | CA351983911 | GLB1 | c.1684A>G (p.Ile562Val) c.1291A>G (p.Ile431Val) c.1594A>G (p.Ile532Val) n.783A>G c.1828A>G (p.Ile610Val) | |
| 3 | g.33014106T>G | CA351983910 | GLB1 | c.1684A>C (p.Ile562Leu) c.1291A>C (p.Ile431Leu) c.1594A>C (p.Ile532Leu) n.783A>C c.1828A>C (p.Ile610Leu) | |
| 3 | g.33014107C>A | CA432952575 | GLB1 | c.1683G>T (p.Gly561=) c.1290G>T (p.Gly430=) c.1593G>T (p.Gly531=) n.782G>T c.1827G>T (p.Gly609=) | |
| 3 | g.33014107C= | CA1355984287 | GLB1 | c.1683G= (p.Gly561=) c.1290G= (p.Gly430=) c.1593G= (p.Gly531=) n.782G= c.1827G= (p.Gly609=) | |
| 3 | g.33014107C>G | CA432952576 | GLB1 | c.1683G>C (p.Gly561=) c.1290G>C (p.Gly430=) c.1593G>C (p.Gly531=) n.782G>C c.1827G>C (p.Gly609=) | |
| 3 | g.33014107C>T | CA72646123 | GLB1 | c.1683G>A (p.Gly561=) c.1290G>A (p.Gly430=) c.1593G>A (p.Gly531=) n.782G>A c.1827G>A (p.Gly609=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.33014108C>A | CA351983915 | GLB1 | c.1682G>T (p.Gly561Val) c.1289G>T (p.Gly430Val) c.1592G>T (p.Gly531Val) n.781G>T c.1826G>T (p.Gly609Val) | |
| 3 | g.33014108C>G | CA351983920 | GLB1 | c.1682G>C (p.Gly561Ala) c.1289G>C (p.Gly430Ala) c.1592G>C (p.Gly531Ala) n.781G>C c.1826G>C (p.Gly609Ala) | |
| 3 | g.33014108C>T | CA351983921 | GLB1 | c.1682G>A (p.Gly561Glu) c.1289G>A (p.Gly430Glu) c.1592G>A (p.Gly531Glu) n.781G>A c.1826G>A (p.Gly609Glu) | COSMIC COSMIC |
| 3 | g.33014109C>A | CA351983923 | GLB1 | c.1681G>T (p.Gly561Trp) c.1288G>T (p.Gly430Trp) c.1591G>T (p.Gly531Trp) n.780G>T c.1825G>T (p.Gly609Trp) | |
| 3 | g.33014109C>G | CA351983926 | GLB1 | c.1681G>C (p.Gly561Arg) c.1288G>C (p.Gly430Arg) c.1591G>C (p.Gly531Arg) n.780G>C c.1825G>C (p.Gly609Arg) | |
| 3 | g.33014109C>T | CA351983938 | GLB1 | c.1681G>A (p.Gly561Arg) c.1288G>A (p.Gly430Arg) c.1591G>A (p.Gly531Arg) n.780G>A c.1825G>A (p.Gly609Arg) | |
| 3 | g.33014110A>C | CA351983947 | GLB1 | c.1680T>G (p.Ser560Arg) c.1287T>G (p.Ser429Arg) c.1590T>G (p.Ser530Arg) n.779T>G c.1824T>G (p.Ser608Arg) | |
| 3 | g.33014110A>G | CA432952578 | GLB1 | c.1680T>C (p.Ser560=) c.1287T>C (p.Ser429=) c.1590T>C (p.Ser530=) n.779T>C c.1824T>C (p.Ser608=) | ClinVar gnomAD v4 |
| 3 | g.33014110A>T | CA351983956 | GLB1 | c.1680T>A (p.Ser560Arg) c.1287T>A (p.Ser429Arg) c.1590T>A (p.Ser530Arg) n.779T>A c.1824T>A (p.Ser608Arg) | |
| 3 | g.33014111C>A | CA2299329 | GLB1 | c.1679G>T (p.Ser560Ile) c.1286G>T (p.Ser429Ile) c.1589G>T (p.Ser530Ile) n.778G>T c.1823G>T (p.Ser608Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.33014111C= | CA1355984288 | GLB1 | c.1679G= (p.Ser560=) c.1286G= (p.Ser429=) c.1589G= (p.Ser530=) n.778G= c.1823G= (p.Ser608=) | |
| 3 | g.33014111C>G | CA351983986 | GLB1 | c.1679G>C (p.Ser560Thr) c.1286G>C (p.Ser429Thr) c.1589G>C (p.Ser530Thr) n.778G>C c.1823G>C (p.Ser608Thr) | |
| 3 | g.33014111C>T | CA2299330 | GLB1 | c.1679G>A (p.Ser560Asn) c.1286G>A (p.Ser429Asn) c.1589G>A (p.Ser530Asn) n.778G>A c.1823G>A (p.Ser608Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.33014112T>A | CA351984000 | GLB1 | c.1678A>T (p.Ser560Cys) c.1285A>T (p.Ser429Cys) c.1588A>T (p.Ser530Cys) n.777A>T c.1822A>T (p.Ser608Cys) | gnomAD v4 |
| 3 | g.33014112T>C | CA351984005 | GLB1 | c.1678A>G (p.Ser560Gly) c.1285A>G (p.Ser429Gly) c.1588A>G (p.Ser530Gly) n.777A>G c.1822A>G (p.Ser608Gly) | |
| 3 | g.33014112T>G | CA351983995 | GLB1 | c.1678A>C (p.Ser560Arg) c.1285A>C (p.Ser429Arg) c.1588A>C (p.Ser530Arg) n.777A>C c.1822A>C (p.Ser608Arg) | gnomAD v4 |
| 3 | g.33014113G>A | CA432952582 | GLB1 | c.1677C>T (p.Pro559=) c.1284C>T (p.Pro428=) c.1587C>T (p.Pro529=) n.776C>T c.1821C>T (p.Pro607=) | gnomAD v4 |
| 3 | g.33014113G>C | CA432952581 | GLB1 | c.1677C>G (p.Pro559=) c.1284C>G (p.Pro428=) c.1587C>G (p.Pro529=) n.776C>G c.1821C>G (p.Pro607=) | |
| 3 | g.33014113G= | CA1355984289 | GLB1 | c.1677C= (p.Pro559=) c.1284C= (p.Pro428=) c.1587C= (p.Pro529=) n.776C= c.1821C= (p.Pro607=) | |
| 3 | g.33014113G>T | CA2299331 | GLB1 | c.1677C>A (p.Pro559=) c.1284C>A (p.Pro428=) c.1587C>A (p.Pro529=) n.776C>A c.1821C>A (p.Pro607=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.33014114G>A | CA351984028 | GLB1 | c.1676C>T (p.Pro559Leu) c.1283C>T (p.Pro428Leu) c.1586C>T (p.Pro529Leu) n.775C>T c.1820C>T (p.Pro607Leu) | gnomAD v4 |
| 3 | g.33014114G>C | CA351984037 | GLB1 | c.1676C>G (p.Pro559Arg) c.1283C>G (p.Pro428Arg) c.1586C>G (p.Pro529Arg) n.775C>G c.1820C>G (p.Pro607Arg) | |
| 3 | g.33014114G>T | CA351984043 | GLB1 | c.1676C>A (p.Pro559His) c.1283C>A (p.Pro428His) c.1586C>A (p.Pro529His) n.775C>A c.1820C>A (p.Pro607His) | |
| 3 | g.33014115G>A | CA351984052 | GLB1 | c.1675C>T (p.Pro559Ser) c.1282C>T (p.Pro428Ser) c.1585C>T (p.Pro529Ser) n.774C>T c.1819C>T (p.Pro607Ser) | gnomAD v4 |
| 3 | g.33014115G>C | CA351984056 | GLB1 | c.1675C>G (p.Pro559Ala) c.1282C>G (p.Pro428Ala) c.1585C>G (p.Pro529Ala) n.774C>G c.1819C>G (p.Pro607Ala) | |
| 3 | g.33014115G>T | CA351984067 | GLB1 | c.1675C>A (p.Pro559Thr) c.1282C>A (p.Pro428Thr) c.1585C>A (p.Pro529Thr) n.774C>A c.1819C>A (p.Pro607Thr) | |
| 3 | g.33014116A>C | CA351984072 | GLB1 | c.1674T>G (p.Ile558Met) c.1281T>G (p.Ile427Met) c.1584T>G (p.Ile528Met) n.773T>G c.1818T>G (p.Ile606Met) | |
| 3 | g.33014116A>G | CA432952584 | GLB1 | c.1674T>C (p.Ile558=) c.1281T>C (p.Ile427=) c.1584T>C (p.Ile528=) n.773T>C c.1818T>C (p.Ile606=) |