Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.39357319G>A | CA364350122 | KIF6 | c.2138C>T (p.Ser713Phe) c.491C>T (p.Ser164Phe) c.1813C>T c.2087C>T (p.Ser696Phe) c.1970C>T (p.Ser657Phe) c.1511C>T (p.Ser504Phe) c.1829C>T (p.Ser610Phe) c.1493C>T (p.Ser498Phe) n.75+5371G>A | |
6 | g.39357319G>C | CA3793803 | KIF6 | c.2138C>G (p.Ser713Cys) c.491C>G (p.Ser164Cys) c.1813C>G c.2087C>G (p.Ser696Cys) c.1970C>G (p.Ser657Cys) c.1511C>G (p.Ser504Cys) c.1829C>G (p.Ser610Cys) c.1493C>G (p.Ser498Cys) n.75+5371G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.39357319G= | CA1622646813 | KIF6 | c.2138C= (p.Ser713=) c.491C= (p.Ser164=) c.1813C= c.2087C= (p.Ser696=) c.1970C= (p.Ser657=) c.1511C= (p.Ser504=) c.1829C= (p.Ser610=) c.1493C= (p.Ser498=) n.75+5371G= | |
6 | g.39357319G>T | CA364350123 | KIF6 | c.2138C>A (p.Ser713Tyr) c.491C>A (p.Ser164Tyr) c.1813C>A c.2087C>A (p.Ser696Tyr) c.1970C>A (p.Ser657Tyr) c.1511C>A (p.Ser504Tyr) c.1829C>A (p.Ser610Tyr) c.1493C>A (p.Ser498Tyr) n.75+5371G>T | |
6 | g.39357320A>C | CA364350125 | KIF6 | c.2137T>G (p.Ser713Ala) c.490T>G (p.Ser164Ala) c.1812T>G c.2086T>G (p.Ser696Ala) c.1969T>G (p.Ser657Ala) c.1510T>G (p.Ser504Ala) c.1828T>G (p.Ser610Ala) c.1492T>G (p.Ser498Ala) n.75+5372A>C | |
6 | g.39357320A>G | CA364350126 | KIF6 | c.2137T>C (p.Ser713Pro) c.490T>C (p.Ser164Pro) c.1812T>C c.2086T>C (p.Ser696Pro) c.1969T>C (p.Ser657Pro) c.1510T>C (p.Ser504Pro) c.1828T>C (p.Ser610Pro) c.1492T>C (p.Ser498Pro) n.75+5372A>G | |
6 | g.39357320A>T | CA364350128 | KIF6 | c.2137T>A (p.Ser713Thr) c.490T>A (p.Ser164Thr) c.1812T>A c.2086T>A (p.Ser696Thr) c.1969T>A (p.Ser657Thr) c.1510T>A (p.Ser504Thr) c.1828T>A (p.Ser610Thr) c.1492T>A (p.Ser498Thr) n.75+5372A>T | |
6 | g.39357321T>A | CA450098194 | KIF6 | c.2136A>T (p.Thr712=) c.489A>T (p.Thr163=) c.1811A>T c.2085A>T (p.Thr695=) c.1968A>T (p.Thr656=) c.1509A>T (p.Thr503=) c.1827A>T (p.Thr609=) c.1491A>T (p.Thr497=) n.75+5373T>A | |
6 | g.39357321T>C | CA450098195 | KIF6 | c.2136A>G (p.Thr712=) c.489A>G (p.Thr163=) c.1811A>G c.2085A>G (p.Thr695=) c.1968A>G (p.Thr656=) c.1509A>G (p.Thr503=) c.1827A>G (p.Thr609=) c.1491A>G (p.Thr497=) n.75+5373T>C | |
6 | g.39357321T>G | CA450098196 | KIF6 | c.2136A>C (p.Thr712=) c.489A>C (p.Thr163=) c.1811A>C c.2085A>C (p.Thr695=) c.1968A>C (p.Thr656=) c.1509A>C (p.Thr503=) c.1827A>C (p.Thr609=) c.1491A>C (p.Thr497=) n.75+5373T>G | |
6 | g.39357322G>A | CA3793804 | KIF6 | c.2135C>T (p.Thr712Ile) c.488C>T (p.Thr163Ile) c.1810C>T c.2084C>T (p.Thr695Ile) c.1967C>T (p.Thr656Ile) c.1508C>T (p.Thr503Ile) c.1826C>T (p.Thr609Ile) c.1490C>T (p.Thr497Ile) n.75+5374G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.39357322G>C | CA364350130 | KIF6 | c.2135C>G (p.Thr712Arg) c.488C>G (p.Thr163Arg) c.1810C>G c.2084C>G (p.Thr695Arg) c.1967C>G (p.Thr656Arg) c.1508C>G (p.Thr503Arg) c.1826C>G (p.Thr609Arg) c.1490C>G (p.Thr497Arg) n.75+5374G>C | |
6 | g.39357322G= | CA1622646814 | KIF6 | c.2135C= (p.Thr712=) c.488C= (p.Thr163=) c.1810C= c.2084C= (p.Thr695=) c.1967C= (p.Thr656=) c.1508C= (p.Thr503=) c.1826C= (p.Thr609=) c.1490C= (p.Thr497=) n.75+5374G= | |
6 | g.39357322G>T | CA364350131 | KIF6 | c.2135C>A (p.Thr712Lys) c.488C>A (p.Thr163Lys) c.1810C>A c.2084C>A (p.Thr695Lys) c.1967C>A (p.Thr656Lys) c.1508C>A (p.Thr503Lys) c.1826C>A (p.Thr609Lys) c.1490C>A (p.Thr497Lys) n.75+5374G>T | |
6 | g.39357323T>A | CA364350133 | KIF6 | c.2134A>T (p.Thr712Ser) c.487A>T (p.Thr163Ser) c.1809A>T c.2083A>T (p.Thr695Ser) c.1966A>T (p.Thr656Ser) c.1507A>T (p.Thr503Ser) c.1825A>T (p.Thr609Ser) c.1489A>T (p.Thr497Ser) n.75+5375T>A | |
6 | g.39357323T>C | CA364350135 | KIF6 | c.2134A>G (p.Thr712Ala) c.487A>G (p.Thr163Ala) c.1809A>G c.2083A>G (p.Thr695Ala) c.1966A>G (p.Thr656Ala) c.1507A>G (p.Thr503Ala) c.1825A>G (p.Thr609Ala) c.1489A>G (p.Thr497Ala) n.75+5375T>C | |
6 | g.39357323T>G | CA364350136 | KIF6 | c.2134A>C (p.Thr712Pro) c.487A>C (p.Thr163Pro) c.1809A>C c.2083A>C (p.Thr695Pro) c.1966A>C (p.Thr656Pro) c.1507A>C (p.Thr503Pro) c.1825A>C (p.Thr609Pro) c.1489A>C (p.Thr497Pro) n.75+5375T>G | |
6 | g.39357324C>A | CA364350137 | KIF6 | c.2133G>T (p.Gln711His) c.486G>T (p.Gln162His) c.1808G>T c.2082G>T (p.Gln694His) c.1965G>T (p.Gln655His) c.1506G>T (p.Gln502His) c.1824G>T (p.Gln608His) c.1488G>T (p.Gln496His) n.75+5376C>A | |
6 | g.39357324C>G | CA364350139 | KIF6 | c.2133G>C (p.Gln711His) c.486G>C (p.Gln162His) c.1808G>C c.2082G>C (p.Gln694His) c.1965G>C (p.Gln655His) c.1506G>C (p.Gln502His) c.1824G>C (p.Gln608His) c.1488G>C (p.Gln496His) n.75+5376C>G | gnomAD v4 |
6 | g.39357324C>T | CA450098197 | KIF6 | c.2133G>A (p.Gln711=) c.486G>A (p.Gln162=) c.1808G>A c.2082G>A (p.Gln694=) c.1965G>A (p.Gln655=) c.1506G>A (p.Gln502=) c.1824G>A (p.Gln608=) c.1488G>A (p.Gln496=) n.75+5376C>T | gnomAD v4 |
6 | g.39357325T>A | CA364350140 | KIF6 | c.2132A>T (p.Gln711Leu) c.485A>T (p.Gln162Leu) c.1807A>T c.2081A>T (p.Gln694Leu) c.1964A>T (p.Gln655Leu) c.1505A>T (p.Gln502Leu) c.1823A>T (p.Gln608Leu) c.1487A>T (p.Gln496Leu) n.75+5377T>A | |
6 | g.39357325T>C | CA364350144 | KIF6 | c.2132A>G (p.Gln711Arg) c.485A>G (p.Gln162Arg) c.1807A>G c.2081A>G (p.Gln694Arg) c.1964A>G (p.Gln655Arg) c.1505A>G (p.Gln502Arg) c.1823A>G (p.Gln608Arg) c.1487A>G (p.Gln496Arg) n.75+5377T>C | |
6 | g.39357325T>G | CA364350142 | KIF6 | c.2132A>C (p.Gln711Pro) c.485A>C (p.Gln162Pro) c.1807A>C c.2081A>C (p.Gln694Pro) c.1964A>C (p.Gln655Pro) c.1505A>C (p.Gln502Pro) c.1823A>C (p.Gln608Pro) c.1487A>C (p.Gln496Pro) n.75+5377T>G | |
6 | g.39357326G>A | CA137717072 | KIF6 | c.2131C>T (p.Gln711Ter) c.484C>T (p.Gln162Ter) c.1806C>T c.2080C>T (p.Gln694Ter) c.1963C>T (p.Gln655Ter) c.1504C>T (p.Gln502Ter) c.1822C>T (p.Gln608Ter) c.1486C>T (p.Gln496Ter) n.75+5378G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.39357326G>C | CA364350146 | KIF6 | c.2131C>G (p.Gln711Glu) c.484C>G (p.Gln162Glu) c.1806C>G c.2080C>G (p.Gln694Glu) c.1963C>G (p.Gln655Glu) c.1504C>G (p.Gln502Glu) c.1822C>G (p.Gln608Glu) c.1486C>G (p.Gln496Glu) n.75+5378G>C | |
6 | g.39357326G= | CA1622646816 | KIF6 | c.2131C= (p.Gln711=) c.484C= (p.Gln162=) c.1806C= c.2080C= (p.Gln694=) c.1963C= (p.Gln655=) c.1504C= (p.Gln502=) c.1822C= (p.Gln608=) c.1486C= (p.Gln496=) n.75+5378G= | |
6 | g.39357326G>T | CA364350147 | KIF6 | c.2131C>A (p.Gln711Lys) c.484C>A (p.Gln162Lys) c.1806C>A c.2080C>A (p.Gln694Lys) c.1963C>A (p.Gln655Lys) c.1504C>A (p.Gln502Lys) c.1822C>A (p.Gln608Lys) c.1486C>A (p.Gln496Lys) n.75+5378G>T | |
6 | g.39357327G>A | CA450098198 | KIF6 | c.2130C>T (p.Leu710=) c.483C>T (p.Leu161=) c.1805C>T c.2079C>T (p.Leu693=) c.1962C>T (p.Leu654=) c.1503C>T (p.Leu501=) c.1821C>T (p.Leu607=) c.1485C>T (p.Leu495=) n.75+5379G>A | |
6 | g.39357327G>C | CA450098199 | KIF6 | c.2130C>G (p.Leu710=) c.483C>G (p.Leu161=) c.1805C>G c.2079C>G (p.Leu693=) c.1962C>G (p.Leu654=) c.1503C>G (p.Leu501=) c.1821C>G (p.Leu607=) c.1485C>G (p.Leu495=) n.75+5379G>C | |
6 | g.39357327G>T | CA450098200 | KIF6 | c.2130C>A (p.Leu710=) c.483C>A (p.Leu161=) c.1805C>A c.2079C>A (p.Leu693=) c.1962C>A (p.Leu654=) c.1503C>A (p.Leu501=) c.1821C>A (p.Leu607=) c.1485C>A (p.Leu495=) n.75+5379G>T | |
6 | g.39357328A>C | CA364350149 | KIF6 | c.2129T>G (p.Leu710Arg) c.482T>G (p.Leu161Arg) c.1804T>G c.2078T>G (p.Leu693Arg) c.1961T>G (p.Leu654Arg) c.1502T>G (p.Leu501Arg) c.1820T>G (p.Leu607Arg) c.1484T>G (p.Leu495Arg) n.75+5380A>C | |
6 | g.39357328A>G | CA364350151 | KIF6 | c.2129T>C (p.Leu710Pro) c.482T>C (p.Leu161Pro) c.1804T>C c.2078T>C (p.Leu693Pro) c.1961T>C (p.Leu654Pro) c.1502T>C (p.Leu501Pro) c.1820T>C (p.Leu607Pro) c.1484T>C (p.Leu495Pro) n.75+5380A>G | |
6 | g.39357328A>T | CA364350152 | KIF6 | c.2129T>A (p.Leu710His) c.482T>A (p.Leu161His) c.1804T>A c.2078T>A (p.Leu693His) c.1961T>A (p.Leu654His) c.1502T>A (p.Leu501His) c.1820T>A (p.Leu607His) c.1484T>A (p.Leu495His) n.75+5380A>T | |
6 | g.39357329G>A | CA364350154 | KIF6 | c.2128C>T (p.Leu710Phe) c.481C>T (p.Leu161Phe) c.1803C>T c.2077C>T (p.Leu693Phe) c.1960C>T (p.Leu654Phe) c.1501C>T (p.Leu501Phe) c.1819C>T (p.Leu607Phe) c.1483C>T (p.Leu495Phe) n.75+5381G>A | |
6 | g.39357329G>C | CA364350155 | KIF6 | c.2128C>G (p.Leu710Val) c.481C>G (p.Leu161Val) c.1803C>G c.2077C>G (p.Leu693Val) c.1960C>G (p.Leu654Val) c.1501C>G (p.Leu501Val) c.1819C>G (p.Leu607Val) c.1483C>G (p.Leu495Val) n.75+5381G>C | |
6 | g.39357329G>T | CA364350157 | KIF6 | c.2128C>A (p.Leu710Ile) c.481C>A (p.Leu161Ile) c.1803C>A c.2077C>A (p.Leu693Ile) c.1960C>A (p.Leu654Ile) c.1501C>A (p.Leu501Ile) c.1819C>A (p.Leu607Ile) c.1483C>A (p.Leu495Ile) n.75+5381G>T | |
6 | g.39357330A>C | CA364350158 | KIF6 | c.2127T>G (p.Phe709Leu) c.480T>G (p.Phe160Leu) c.1802T>G c.2076T>G (p.Phe692Leu) c.1959T>G (p.Phe653Leu) c.1500T>G (p.Phe500Leu) c.1818T>G (p.Phe606Leu) c.1482T>G (p.Phe494Leu) n.75+5382A>C | |
6 | g.39357330A>G | CA450098201 | KIF6 | c.2127T>C (p.Phe709=) c.480T>C (p.Phe160=) c.1802T>C c.2076T>C (p.Phe692=) c.1959T>C (p.Phe653=) c.1500T>C (p.Phe500=) c.1818T>C (p.Phe606=) c.1482T>C (p.Phe494=) n.75+5382A>G | |
6 | g.39357330A>T | CA364350160 | KIF6 | c.2127T>A (p.Phe709Leu) c.480T>A (p.Phe160Leu) c.1802T>A c.2076T>A (p.Phe692Leu) c.1959T>A (p.Phe653Leu) c.1500T>A (p.Phe500Leu) c.1818T>A (p.Phe606Leu) c.1482T>A (p.Phe494Leu) n.75+5382A>T | |
6 | g.39357331A= | CA1622646818 | KIF6 | c.2126T= (p.Phe709=) c.479T= (p.Phe160=) c.1801T= c.2075T= (p.Phe692=) c.1958T= (p.Phe653=) c.1499T= (p.Phe500=) c.1817T= (p.Phe606=) c.1481T= (p.Phe494=) n.75+5383A= | |
6 | g.39357331A>C | CA3793805 | KIF6 | c.2126T>G (p.Phe709Cys) c.479T>G (p.Phe160Cys) c.1801T>G c.2075T>G (p.Phe692Cys) c.1958T>G (p.Phe653Cys) c.1499T>G (p.Phe500Cys) c.1817T>G (p.Phe606Cys) c.1481T>G (p.Phe494Cys) n.75+5383A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.39357331A>G | CA364350163 | KIF6 | c.2126T>C (p.Phe709Ser) c.479T>C (p.Phe160Ser) c.1801T>C c.2075T>C (p.Phe692Ser) c.1958T>C (p.Phe653Ser) c.1499T>C (p.Phe500Ser) c.1817T>C (p.Phe606Ser) c.1481T>C (p.Phe494Ser) n.75+5383A>G | |
6 | g.39357331A>T | CA364350161 | KIF6 | c.2126T>A (p.Phe709Tyr) c.479T>A (p.Phe160Tyr) c.1801T>A c.2075T>A (p.Phe692Tyr) c.1958T>A (p.Phe653Tyr) c.1499T>A (p.Phe500Tyr) c.1817T>A (p.Phe606Tyr) c.1481T>A (p.Phe494Tyr) n.75+5383A>T | |
6 | g.39357332A>C | CA364350166 | KIF6 | c.2125T>G (p.Phe709Val) c.478T>G (p.Phe160Val) c.1800T>G c.2074T>G (p.Phe692Val) c.1957T>G (p.Phe653Val) c.1498T>G (p.Phe500Val) c.1816T>G (p.Phe606Val) c.1480T>G (p.Phe494Val) n.75+5384A>C | |
6 | g.39357332A>G | CA364350167 | KIF6 | c.2125T>C (p.Phe709Leu) c.478T>C (p.Phe160Leu) c.1800T>C c.2074T>C (p.Phe692Leu) c.1957T>C (p.Phe653Leu) c.1498T>C (p.Phe500Leu) c.1816T>C (p.Phe606Leu) c.1480T>C (p.Phe494Leu) n.75+5384A>G | gnomAD v4 |
6 | g.39357332A>T | CA364350168 | KIF6 | c.2125T>A (p.Phe709Ile) c.478T>A (p.Phe160Ile) c.1800T>A c.2074T>A (p.Phe692Ile) c.1957T>A (p.Phe653Ile) c.1498T>A (p.Phe500Ile) c.1816T>A (p.Phe606Ile) c.1480T>A (p.Phe494Ile) n.75+5384A>T | |
6 | g.39357333T>A | CA450098202 | KIF6 | c.2124A>T (p.Pro708=) c.477A>T (p.Pro159=) c.1799A>T c.2073A>T (p.Pro691=) c.1956A>T (p.Pro652=) c.1497A>T (p.Pro499=) c.1815A>T (p.Pro605=) c.1479A>T (p.Pro493=) n.75+5385T>A | |
6 | g.39357333T>C | CA450098203 | KIF6 | c.2124A>G (p.Pro708=) c.477A>G (p.Pro159=) c.1799A>G c.2073A>G (p.Pro691=) c.1956A>G (p.Pro652=) c.1497A>G (p.Pro499=) c.1815A>G (p.Pro605=) c.1479A>G (p.Pro493=) n.75+5385T>C | dbSNP |
6 | g.39357333T>G | CA450098204 | KIF6 | c.2124A>C (p.Pro708=) c.477A>C (p.Pro159=) c.1799A>C c.2073A>C (p.Pro691=) c.1956A>C (p.Pro652=) c.1497A>C (p.Pro499=) c.1815A>C (p.Pro605=) c.1479A>C (p.Pro493=) n.75+5385T>G | |
6 | g.39357334G>A | CA364350170 | KIF6 | c.2123C>T (p.Pro708Leu) c.476C>T (p.Pro159Leu) c.1798C>T c.2072C>T (p.Pro691Leu) c.1955C>T (p.Pro652Leu) c.1496C>T (p.Pro499Leu) c.1814C>T (p.Pro605Leu) c.1478C>T (p.Pro493Leu) n.75+5386G>A | dbSNP gnomAD v3 gnomAD v4 |