Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189061500_189068944dup | CA2580616652 | COL5A2 | c.1159-60_2031+62dup c.359-2511_870+62dup c.1021-60_1893+62dup | |
2 | g.189062876C>A | CA349878948 | COL5A2 | c.1966G>T (p.Val656Leu) n.72G>T c.805G>T (p.Val269Leu) c.1828G>T (p.Val610Leu) | |
2 | g.189062876C= | CA1315430348 | COL5A2 | c.1966G= (p.Val656=) n.72G= c.805G= (p.Val269=) c.1828G= (p.Val610=) | |
2 | g.189062876C>G | CA349878949 | COL5A2 | c.1966G>C (p.Val656Leu) n.72G>C c.805G>C (p.Val269Leu) c.1828G>C (p.Val610Leu) | |
2 | g.189062876C>T | CA349878952 | COL5A2 | c.1966G>A (p.Val656Met) n.72G>A c.805G>A (p.Val269Met) c.1828G>A (p.Val610Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189062877A>C | CA430324387 | COL5A2 | c.1965T>G (p.Pro655=) n.71T>G c.804T>G (p.Pro268=) c.1827T>G (p.Pro609=) | |
2 | g.189062877A>G | CA430324389 | COL5A2 | c.1965T>C (p.Pro655=) n.71T>C c.804T>C (p.Pro268=) c.1827T>C (p.Pro609=) | |
2 | g.189062877A>T | CA430324388 | COL5A2 | c.1965T>A (p.Pro655=) n.71T>A c.804T>A (p.Pro268=) c.1827T>A (p.Pro609=) | gnomAD v4 |
2 | g.189062878G>A | CA349878956 | COL5A2 | c.1964C>T (p.Pro655Leu) n.70C>T c.803C>T (p.Pro268Leu) c.1826C>T (p.Pro609Leu) | |
2 | g.189062878G>C | CA2022509 | COL5A2 | c.1964C>G (p.Pro655Arg) n.70C>G c.803C>G (p.Pro268Arg) c.1826C>G (p.Pro609Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189062878G= | CA1315430349 | COL5A2 | c.1964C= (p.Pro655=) n.70C= c.803C= (p.Pro268=) c.1826C= (p.Pro609=) | |
2 | g.189062878G>T | CA349878961 | COL5A2 | c.1964C>A (p.Pro655His) n.70C>A c.803C>A (p.Pro268His) c.1826C>A (p.Pro609His) | |
2 | g.189062879G>A | CA349878969 | COL5A2 | c.1963C>T (p.Pro655Ser) n.69C>T c.802C>T (p.Pro268Ser) c.1825C>T (p.Pro609Ser) | COSMIC |
2 | g.189062879G>C | CA349878967 | COL5A2 | c.1963C>G (p.Pro655Ala) n.69C>G c.802C>G (p.Pro268Ala) c.1825C>G (p.Pro609Ala) | |
2 | g.189062879G>T | CA349878965 | COL5A2 | c.1963C>A (p.Pro655Thr) n.69C>A c.802C>A (p.Pro268Thr) c.1825C>A (p.Pro609Thr) | |
2 | g.189062880A>C | CA430324392 | COL5A2 | c.1962T>G (p.Gly654=) n.68T>G c.801T>G (p.Gly267=) c.1824T>G (p.Gly608=) | |
2 | g.189062880A>G | CA430324393 | COL5A2 | c.1962T>C (p.Gly654=) n.68T>C c.801T>C (p.Gly267=) c.1824T>C (p.Gly608=) | |
2 | g.189062880A>T | CA430324394 | COL5A2 | c.1962T>A (p.Gly654=) n.68T>A c.801T>A (p.Gly267=) c.1824T>A (p.Gly608=) | |
2 | g.189062881C>A | CA349878972 | COL5A2 | c.1961G>T (p.Gly654Val) n.67G>T c.800G>T (p.Gly267Val) c.1823G>T (p.Gly608Val) | |
2 | g.189062881C>G | CA349878974 | COL5A2 | c.1961G>C (p.Gly654Ala) n.67G>C c.800G>C (p.Gly267Ala) c.1823G>C (p.Gly608Ala) | |
2 | g.189062881C>T | CA349878977 | COL5A2 | c.1961G>A (p.Gly654Asp) n.67G>A c.800G>A (p.Gly267Asp) c.1823G>A (p.Gly608Asp) | |
2 | g.189062882C>A | CA349878980 | COL5A2 | c.1960G>T (p.Gly654Cys) n.66G>T c.799G>T (p.Gly267Cys) c.1822G>T (p.Gly608Cys) | |
2 | g.189062882C= | CA1315430350 | COL5A2 | c.1960G= (p.Gly654=) n.66G= c.799G= (p.Gly267=) c.1822G= (p.Gly608=) | |
2 | g.189062882C>G | CA349878983 | COL5A2 | c.1960G>C (p.Gly654Arg) n.66G>C c.799G>C (p.Gly267Arg) c.1822G>C (p.Gly608Arg) | |
2 | g.189062882C>T | CA325356 | COL5A2 | c.1960G>A (p.Gly654Ser) n.66G>A c.799G>A (p.Gly267Ser) c.1822G>A (p.Gly608Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189062883A= | CA1315430351 | COL5A2 | c.1959T= (p.Ser653=) n.65T= c.798T= (p.Ser266=) c.1821T= (p.Ser607=) | |
2 | g.189062883A>C | CA430324395 | COL5A2 | c.1959T>G (p.Ser653=) n.65T>G c.798T>G (p.Ser266=) c.1821T>G (p.Ser607=) | |
2 | g.189062883A>G | CA2022510 | COL5A2 | c.1959T>C (p.Ser653=) n.65T>C c.798T>C (p.Ser266=) c.1821T>C (p.Ser607=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189062883A>T | CA430324396 | COL5A2 | c.1959T>A (p.Ser653=) n.65T>A c.798T>A (p.Ser266=) c.1821T>A (p.Ser607=) | |
2 | g.189062884G>A | CA349878990 | COL5A2 | c.1958C>T (p.Ser653Phe) n.64C>T c.797C>T (p.Ser266Phe) c.1820C>T (p.Ser607Phe) | |
2 | g.189062884G>C | CA349878992 | COL5A2 | c.1958C>G (p.Ser653Cys) n.64C>G c.797C>G (p.Ser266Cys) c.1820C>G (p.Ser607Cys) | gnomAD v4 |
2 | g.189062884G>T | CA349878995 | COL5A2 | c.1958C>A (p.Ser653Tyr) n.64C>A c.797C>A (p.Ser266Tyr) c.1820C>A (p.Ser607Tyr) | |
2 | g.189062885A>C | CA349878999 | COL5A2 | c.1957T>G (p.Ser653Ala) n.63T>G c.796T>G (p.Ser266Ala) c.1819T>G (p.Ser607Ala) | |
2 | g.189062885A>G | CA349879001 | COL5A2 | c.1957T>C (p.Ser653Pro) n.63T>C c.796T>C (p.Ser266Pro) c.1819T>C (p.Ser607Pro) | |
2 | g.189062885A>T | CA349879003 | COL5A2 | c.1957T>A (p.Ser653Thr) n.63T>A c.796T>A (p.Ser266Thr) c.1819T>A (p.Ser607Thr) | |
2 | g.189062886A>C | CA430324398 | COL5A2 | c.1956T>G (p.Pro652=) n.62T>G c.795T>G (p.Pro265=) c.1818T>G (p.Pro606=) | |
2 | g.189062886A>G | CA430324399 | COL5A2 | c.1956T>C (p.Pro652=) n.62T>C c.795T>C (p.Pro265=) c.1818T>C (p.Pro606=) | |
2 | g.189062886A>T | CA430324400 | COL5A2 | c.1956T>A (p.Pro652=) n.62T>A c.795T>A (p.Pro265=) c.1818T>A (p.Pro606=) | |
2 | g.189062887G>A | CA2022511 | COL5A2 | c.1955C>T (p.Pro652Leu) n.61C>T c.794C>T (p.Pro265Leu) c.1817C>T (p.Pro606Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189062887G>C | CA349879011 | COL5A2 | c.1955C>G (p.Pro652Arg) n.61C>G c.794C>G (p.Pro265Arg) c.1817C>G (p.Pro606Arg) | |
2 | g.189062887G= | CA1315430352 | COL5A2 | c.1955C= (p.Pro652=) n.61C= c.794C= (p.Pro265=) c.1817C= (p.Pro606=) | |
2 | g.189062887G>T | CA349879007 | COL5A2 | c.1955C>A (p.Pro652His) n.61C>A c.794C>A (p.Pro265His) c.1817C>A (p.Pro606His) | |
2 | g.189062888G>A | CA349879017 | COL5A2 | c.1954C>T (p.Pro652Ser) n.60C>T c.793C>T (p.Pro265Ser) c.1816C>T (p.Pro606Ser) | gnomAD v4 COSMIC |
2 | g.189062888G>C | CA349879014 | COL5A2 | c.1954C>G (p.Pro652Ala) n.60C>G c.793C>G (p.Pro265Ala) c.1816C>G (p.Pro606Ala) | |
2 | g.189062888G= | CA1315430353 | COL5A2 | c.1954C= (p.Pro652=) n.60C= c.793C= (p.Pro265=) c.1816C= (p.Pro606=) | |
2 | g.189062888G>T | CA2022512 | COL5A2 | c.1954C>A (p.Pro652Thr) n.60C>A c.793C>A (p.Pro265Thr) c.1816C>A (p.Pro606Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189062889A>C | CA430324403 | COL5A2 | c.1953T>G (p.Gly651=) n.59T>G c.792T>G (p.Gly264=) c.1815T>G (p.Gly605=) | |
2 | g.189062889A>G | CA430324405 | COL5A2 | c.1953T>C (p.Gly651=) n.59T>C c.792T>C (p.Gly264=) c.1815T>C (p.Gly605=) | |
2 | g.189062889A>T | CA430324406 | COL5A2 | c.1953T>A (p.Gly651=) n.59T>A c.792T>A (p.Gly264=) c.1815T>A (p.Gly605=) | |
2 | g.189062890C>A | CA349879022 | COL5A2 | c.1952G>T (p.Gly651Val) n.58G>T c.791G>T (p.Gly264Val) c.1814G>T (p.Gly605Val) |