Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
6 | g.39357334G>C | CA364350172 | KIF6 | c.2123C>G (p.Pro708Arg) c.476C>G (p.Pro159Arg) c.1798C>G c.2072C>G (p.Pro691Arg) c.1955C>G (p.Pro652Arg) c.1496C>G (p.Pro499Arg) c.1814C>G (p.Pro605Arg) c.1478C>G (p.Pro493Arg) n.75+5386G>C | |
6 | g.39357334G= | CA1622646822 | KIF6 | c.2123C= (p.Pro708=) c.476C= (p.Pro159=) c.1798C= c.2072C= (p.Pro691=) c.1955C= (p.Pro652=) c.1496C= (p.Pro499=) c.1814C= (p.Pro605=) c.1478C= (p.Pro493=) n.75+5386G= | |
6 | g.39357334G>T | CA364350174 | KIF6 | c.2123C>A (p.Pro708Gln) c.476C>A (p.Pro159Gln) c.1798C>A c.2072C>A (p.Pro691Gln) c.1955C>A (p.Pro652Gln) c.1496C>A (p.Pro499Gln) c.1814C>A (p.Pro605Gln) c.1478C>A (p.Pro493Gln) n.75+5386G>T | |
6 | g.39357335G>A | CA3793806 | KIF6 | c.2122C>T (p.Pro708Ser) c.475C>T (p.Pro159Ser) c.1797C>T c.2071C>T (p.Pro691Ser) c.1954C>T (p.Pro652Ser) c.1495C>T (p.Pro499Ser) c.1813C>T (p.Pro605Ser) c.1477C>T (p.Pro493Ser) n.75+5387G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.39357335G>C | CA364350175 | KIF6 | c.2122C>G (p.Pro708Ala) c.475C>G (p.Pro159Ala) c.1797C>G c.2071C>G (p.Pro691Ala) c.1954C>G (p.Pro652Ala) c.1495C>G (p.Pro499Ala) c.1813C>G (p.Pro605Ala) c.1477C>G (p.Pro493Ala) n.75+5387G>C | |
6 | g.39357335G= | CA1622646827 | KIF6 | c.2122C= (p.Pro708=) c.475C= (p.Pro159=) c.1797C= c.2071C= (p.Pro691=) c.1954C= (p.Pro652=) c.1495C= (p.Pro499=) c.1813C= (p.Pro605=) c.1477C= (p.Pro493=) n.75+5387G= | |
6 | g.39357335G>T | CA3793807 | KIF6 | c.2122C>A (p.Pro708Thr) c.475C>A (p.Pro159Thr) c.1797C>A c.2071C>A (p.Pro691Thr) c.1954C>A (p.Pro652Thr) c.1495C>A (p.Pro499Thr) c.1813C>A (p.Pro605Thr) c.1477C>A (p.Pro493Thr) n.75+5387G>T | dbSNP ExAC gnomAD v4 |
6 | g.39357336C>A | CA364350178 | KIF6 | c.2121G>T (p.Lys707Asn) c.474G>T (p.Lys158Asn) c.1796G>T c.2070G>T (p.Lys690Asn) c.1953G>T (p.Lys651Asn) c.1494G>T (p.Lys498Asn) c.1812G>T (p.Lys604Asn) c.1476G>T (p.Lys492Asn) n.75+5388C>A | |
6 | g.39357336C>G | CA364350179 | KIF6 | c.2121G>C (p.Lys707Asn) c.474G>C (p.Lys158Asn) c.1796G>C c.2070G>C (p.Lys690Asn) c.1953G>C (p.Lys651Asn) c.1494G>C (p.Lys498Asn) c.1812G>C (p.Lys604Asn) c.1476G>C (p.Lys492Asn) n.75+5388C>G | |
6 | g.39357336C>T | CA450098205 | KIF6 | c.2121G>A (p.Lys707=) c.474G>A (p.Lys158=) c.1796G>A c.2070G>A (p.Lys690=) c.1953G>A (p.Lys651=) c.1494G>A (p.Lys498=) c.1812G>A (p.Lys604=) c.1476G>A (p.Lys492=) n.75+5388C>T | |
6 | g.39357337T>A | CA364350183 | KIF6 | c.2120A>T (p.Lys707Met) c.473A>T (p.Lys158Met) c.1795A>T c.2069A>T (p.Lys690Met) c.1952A>T (p.Lys651Met) c.1493A>T (p.Lys498Met) c.1811A>T (p.Lys604Met) c.1475A>T (p.Lys492Met) n.75+5389T>A | |
6 | g.39357337T>C | CA364350182 | KIF6 | c.2120A>G (p.Lys707Arg) c.473A>G (p.Lys158Arg) c.1795A>G c.2069A>G (p.Lys690Arg) c.1952A>G (p.Lys651Arg) c.1493A>G (p.Lys498Arg) c.1811A>G (p.Lys604Arg) c.1475A>G (p.Lys492Arg) n.75+5389T>C | |
6 | g.39357337T>G | CA364350181 | KIF6 | c.2120A>C (p.Lys707Thr) c.473A>C (p.Lys158Thr) c.1795A>C c.2069A>C (p.Lys690Thr) c.1952A>C (p.Lys651Thr) c.1493A>C (p.Lys498Thr) c.1811A>C (p.Lys604Thr) c.1475A>C (p.Lys492Thr) n.75+5389T>G | |
6 | g.39357338T>A | CA364350184 | KIF6 | c.2119A>T (p.Lys707Ter) c.472A>T (p.Lys158Ter) c.1794A>T c.2068A>T (p.Lys690Ter) c.1951A>T (p.Lys651Ter) c.1492A>T (p.Lys498Ter) c.1810A>T (p.Lys604Ter) c.1474A>T (p.Lys492Ter) n.75+5390T>A | |
6 | g.39357338T>C | CA364350185 | KIF6 | c.2119A>G (p.Lys707Glu) c.472A>G (p.Lys158Glu) c.1794A>G c.2068A>G (p.Lys690Glu) c.1951A>G (p.Lys651Glu) c.1492A>G (p.Lys498Glu) c.1810A>G (p.Lys604Glu) c.1474A>G (p.Lys492Glu) n.75+5390T>C | |
6 | g.39357338T>G | CA364350186 | KIF6 | c.2119A>C (p.Lys707Gln) c.472A>C (p.Lys158Gln) c.1794A>C c.2068A>C (p.Lys690Gln) c.1951A>C (p.Lys651Gln) c.1492A>C (p.Lys498Gln) c.1810A>C (p.Lys604Gln) c.1474A>C (p.Lys492Gln) n.75+5390T>G | |
6 | g.39357339C>A | CA450098206 | KIF6 | c.2118G>T (p.Thr706=) c.471G>T (p.Thr157=) c.1793G>T c.2067G>T (p.Thr689=) c.1950G>T (p.Thr650=) c.1491G>T (p.Thr497=) c.1809G>T (p.Thr603=) c.1473G>T (p.Thr491=) n.75+5391C>A | |
6 | g.39357339C= | CA1622646830 | KIF6 | c.2118G= (p.Thr706=) c.471G= (p.Thr157=) c.1793G= c.2067G= (p.Thr689=) c.1950G= (p.Thr650=) c.1491G= (p.Thr497=) c.1809G= (p.Thr603=) c.1473G= (p.Thr491=) n.75+5391C= | |
6 | g.39357339C>G | CA450098207 | KIF6 | c.2118G>C (p.Thr706=) c.471G>C (p.Thr157=) c.1793G>C c.2067G>C (p.Thr689=) c.1950G>C (p.Thr650=) c.1491G>C (p.Thr497=) c.1809G>C (p.Thr603=) c.1473G>C (p.Thr491=) n.75+5391C>G | |
6 | g.39357339C>T | CA3793808 | KIF6 | c.2118G>A (p.Thr706=) c.471G>A (p.Thr157=) c.1793G>A c.2067G>A (p.Thr689=) c.1950G>A (p.Thr650=) c.1491G>A (p.Thr497=) c.1809G>A (p.Thr603=) c.1473G>A (p.Thr491=) n.75+5391C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.39357340G>A | CA3793809 | KIF6 | c.2117C>T (p.Thr706Met) c.470C>T (p.Thr157Met) c.1792C>T c.2066C>T (p.Thr689Met) c.1949C>T (p.Thr650Met) c.1490C>T (p.Thr497Met) c.1808C>T (p.Thr603Met) c.1472C>T (p.Thr491Met) n.75+5392G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.39357340G>C | CA3793810 | KIF6 | c.2117C>G (p.Thr706Arg) c.470C>G (p.Thr157Arg) c.1792C>G c.2066C>G (p.Thr689Arg) c.1949C>G (p.Thr650Arg) c.1490C>G (p.Thr497Arg) c.1808C>G (p.Thr603Arg) c.1472C>G (p.Thr491Arg) n.75+5392G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.39357340G= | CA1622646832 | KIF6 | c.2117C= (p.Thr706=) c.470C= (p.Thr157=) c.1792C= c.2066C= (p.Thr689=) c.1949C= (p.Thr650=) c.1490C= (p.Thr497=) c.1808C= (p.Thr603=) c.1472C= (p.Thr491=) n.75+5392G= | |
6 | g.39357340G>T | CA364350190 | KIF6 | c.2117C>A (p.Thr706Lys) c.470C>A (p.Thr157Lys) c.1792C>A c.2066C>A (p.Thr689Lys) c.1949C>A (p.Thr650Lys) c.1490C>A (p.Thr497Lys) c.1808C>A (p.Thr603Lys) c.1472C>A (p.Thr491Lys) n.75+5392G>T | |
6 | g.39357341T>A | CA364350195 | KIF6 | c.2116A>T (p.Thr706Ser) c.469A>T (p.Thr157Ser) c.1791A>T c.2065A>T (p.Thr689Ser) c.1948A>T (p.Thr650Ser) c.1489A>T (p.Thr497Ser) c.1807A>T (p.Thr603Ser) c.1471A>T (p.Thr491Ser) n.75+5393T>A | |
6 | g.39357341T>C | CA364350191 | KIF6 | c.2116A>G (p.Thr706Ala) c.469A>G (p.Thr157Ala) c.1791A>G c.2065A>G (p.Thr689Ala) c.1948A>G (p.Thr650Ala) c.1489A>G (p.Thr497Ala) c.1807A>G (p.Thr603Ala) c.1471A>G (p.Thr491Ala) n.75+5393T>C | |
6 | g.39357341T>G | CA364350193 | KIF6 | c.2116A>C (p.Thr706Pro) c.469A>C (p.Thr157Pro) c.1791A>C c.2065A>C (p.Thr689Pro) c.1948A>C (p.Thr650Pro) c.1489A>C (p.Thr497Pro) c.1807A>C (p.Thr603Pro) c.1471A>C (p.Thr491Pro) n.75+5393T>G |