Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.36218205_36218206insGTAGGATGCTCTGGGCC | CA2580080497 | CLTA,GNE | c.2019_2020insCGGCCCAGAGCATCCTA (p.Thr675ProfsTer5) c.1749_1750insCGGCCCAGAGCATCCTA (p.Thr585ProfsTer5) c.1926_1927insCGGCCCAGAGCATCCTA (p.Thr644ProfsTer5) c.1704_1705insCGGCCCAGAGCATCCTA (p.Thr570ProfsTer5) c.485+14026_485+14027insGTAGGATGCTCTGGGCC (n.485+14026_485+14027insGTAGGATGCTCTGGGCC) c.1596_1597insCGGCCCAGAGCATCCTA (p.Thr534ProfsTer5) c.1911_1912insCGGCCCAGAGCATCCTA (p.Thr639ProfsTer5) c.1866_1867insCGGCCCAGAGCATCCTA (p.Thr624ProfsTer5) c.1773_1774insCGGCCCAGAGCATCCTA (p.Thr593ProfsTer5) | ClinVar |
9 | g.36218192G>A | CA464494788 | CLTA,GNE | c.2017C>T (p.Leu673=) c.1747C>T (p.Leu583=) c.1924C>T (p.Leu642=) c.1702C>T (p.Leu568=) c.485+14013G>A (n.485+14013G>A) c.1594C>T (p.Leu532=) c.1909C>T (p.Leu637=) c.1864C>T (p.Leu622=) c.1771C>T (p.Leu591=) | |
9 | g.36218192G>C | CA373424924 | CLTA,GNE | c.2017C>G (p.Leu673Val) c.1747C>G (p.Leu583Val) c.1924C>G (p.Leu642Val) c.1702C>G (p.Leu568Val) c.485+14013G>C (n.485+14013G>C) c.1594C>G (p.Leu532Val) c.1909C>G (p.Leu637Val) c.1864C>G (p.Leu622Val) c.1771C>G (p.Leu591Val) | |
9 | g.36218192G>T | CA373424925 | CLTA,GNE | c.2017C>A (p.Leu673Ile) c.1747C>A (p.Leu583Ile) c.1924C>A (p.Leu642Ile) c.1702C>A (p.Leu568Ile) c.485+14013G>T (n.485+14013G>T) c.1594C>A (p.Leu532Ile) c.1909C>A (p.Leu637Ile) c.1864C>A (p.Leu622Ile) c.1771C>A (p.Leu591Ile) | |
9 | g.36218193G>A | CA464494789 | CLTA,GNE | c.2016C>T (p.Ile672=) c.1746C>T (p.Ile582=) c.1923C>T (p.Ile641=) c.1701C>T (p.Ile567=) c.485+14014G>A (n.485+14014G>A) c.1593C>T (p.Ile531=) c.1908C>T (p.Ile636=) c.1863C>T (p.Ile621=) c.1770C>T (p.Ile590=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36218193G>C | CA373424927 | CLTA,GNE | c.2016C>G (p.Ile672Met) c.1746C>G (p.Ile582Met) c.1923C>G (p.Ile641Met) c.1701C>G (p.Ile567Met) c.485+14014G>C (n.485+14014G>C) c.1593C>G (p.Ile531Met) c.1908C>G (p.Ile636Met) c.1863C>G (p.Ile621Met) c.1770C>G (p.Ile590Met) | |
9 | g.36218193G= | CA1846325312 | CLTA,GNE | c.2016C= (p.Ile672=) c.1746C= (p.Ile582=) c.1923C= (p.Ile641=) c.1701C= (p.Ile567=) c.485+14014G= (n.485+14014G=) c.1593C= (p.Ile531=) c.1908C= (p.Ile636=) c.1863C= (p.Ile621=) c.1770C= (p.Ile590=) | |
9 | g.36218193G>T | CA464494790 | CLTA,GNE | c.2016C>A (p.Ile672=) c.1746C>A (p.Ile582=) c.1923C>A (p.Ile641=) c.1701C>A (p.Ile567=) c.485+14014G>T (n.485+14014G>T) c.1593C>A (p.Ile531=) c.1908C>A (p.Ile636=) c.1863C>A (p.Ile621=) c.1770C>A (p.Ile590=) | |
9 | g.36218194A>C | CA373424929 | CLTA,GNE | c.2015T>G (p.Ile672Ser) c.1745T>G (p.Ile582Ser) c.1922T>G (p.Ile641Ser) c.1700T>G (p.Ile567Ser) c.485+14015A>C (n.485+14015A>C) c.1592T>G (p.Ile531Ser) c.1907T>G (p.Ile636Ser) c.1862T>G (p.Ile621Ser) c.1769T>G (p.Ile590Ser) | |
9 | g.36218194A>G | CA373424931 | CLTA,GNE | c.2015T>C (p.Ile672Thr) c.1745T>C (p.Ile582Thr) c.1922T>C (p.Ile641Thr) c.1700T>C (p.Ile567Thr) c.485+14015A>G (n.485+14015A>G) c.1592T>C (p.Ile531Thr) c.1907T>C (p.Ile636Thr) c.1862T>C (p.Ile621Thr) c.1769T>C (p.Ile590Thr) | gnomAD v4 |
9 | g.36218194A>T | CA373424933 | CLTA,GNE | c.2015T>A (p.Ile672Asn) c.1745T>A (p.Ile582Asn) c.1922T>A (p.Ile641Asn) c.1700T>A (p.Ile567Asn) c.485+14015A>T (n.485+14015A>T) c.1592T>A (p.Ile531Asn) c.1907T>A (p.Ile636Asn) c.1862T>A (p.Ile621Asn) c.1769T>A (p.Ile590Asn) | |
9 | g.36218195T>A | CA373424938 | CLTA,GNE | c.2014A>T (p.Ile672Phe) c.1744A>T (p.Ile582Phe) c.1921A>T (p.Ile641Phe) c.1699A>T (p.Ile567Phe) c.485+14016T>A (n.485+14016T>A) c.1591A>T (p.Ile531Phe) c.1906A>T (p.Ile636Phe) c.1861A>T (p.Ile621Phe) c.1768A>T (p.Ile590Phe) | |
9 | g.36218195T>C | CA373424935 | CLTA,GNE | c.2014A>G (p.Ile672Val) c.1744A>G (p.Ile582Val) c.1921A>G (p.Ile641Val) c.1699A>G (p.Ile567Val) c.485+14016T>C (n.485+14016T>C) c.1591A>G (p.Ile531Val) c.1906A>G (p.Ile636Val) c.1861A>G (p.Ile621Val) c.1768A>G (p.Ile590Val) | ClinVar dbSNP |
9 | g.36218195T>G | CA373424937 | CLTA,GNE | c.2014A>C (p.Ile672Leu) c.1744A>C (p.Ile582Leu) c.1921A>C (p.Ile641Leu) c.1699A>C (p.Ile567Leu) c.485+14016T>G (n.485+14016T>G) c.1591A>C (p.Ile531Leu) c.1906A>C (p.Ile636Leu) c.1861A>C (p.Ile621Leu) c.1768A>C (p.Ile590Leu) | |
9 | g.36218196G>A | CA464494791 | CLTA,GNE | c.2013C>T (p.Ser671=) c.1743C>T (p.Ser581=) c.1920C>T (p.Ser640=) c.1698C>T (p.Ser566=) c.485+14017G>A (n.485+14017G>A) c.1590C>T (p.Ser530=) c.1905C>T (p.Ser635=) c.1860C>T (p.Ser620=) c.1767C>T (p.Ser589=) | |
9 | g.36218196G>C | CA373424940 | CLTA,GNE | c.2013C>G (p.Ser671Arg) c.1743C>G (p.Ser581Arg) c.1920C>G (p.Ser640Arg) c.1698C>G (p.Ser566Arg) c.485+14017G>C (n.485+14017G>C) c.1590C>G (p.Ser530Arg) c.1905C>G (p.Ser635Arg) c.1860C>G (p.Ser620Arg) c.1767C>G (p.Ser589Arg) | |
9 | g.36218196G= | CA1846325317 | CLTA,GNE | c.2013C= (p.Ser671=) c.1743C= (p.Ser581=) c.1920C= (p.Ser640=) c.1698C= (p.Ser566=) c.485+14017G= (n.485+14017G=) c.1590C= (p.Ser530=) c.1905C= (p.Ser635=) c.1860C= (p.Ser620=) c.1767C= (p.Ser589=) | |
9 | g.36218196G>T | CA373424941 | CLTA,GNE | c.2013C>A (p.Ser671Arg) c.1743C>A (p.Ser581Arg) c.1920C>A (p.Ser640Arg) c.1698C>A (p.Ser566Arg) c.485+14017G>T (n.485+14017G>T) c.1590C>A (p.Ser530Arg) c.1905C>A (p.Ser635Arg) c.1860C>A (p.Ser620Arg) c.1767C>A (p.Ser589Arg) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36218197C>A | CA373424943 | CLTA,GNE | c.2012G>T (p.Ser671Ile) c.1742G>T (p.Ser581Ile) c.1919G>T (p.Ser640Ile) c.1697G>T (p.Ser566Ile) c.485+14018C>A (n.485+14018C>A) c.1589G>T (p.Ser530Ile) c.1904G>T (p.Ser635Ile) c.1859G>T (p.Ser620Ile) c.1766G>T (p.Ser589Ile) | |
9 | g.36218197C>G | CA373424945 | CLTA,GNE | c.2012G>C (p.Ser671Thr) c.1742G>C (p.Ser581Thr) c.1919G>C (p.Ser640Thr) c.1697G>C (p.Ser566Thr) c.485+14018C>G (n.485+14018C>G) c.1589G>C (p.Ser530Thr) c.1904G>C (p.Ser635Thr) c.1859G>C (p.Ser620Thr) c.1766G>C (p.Ser589Thr) | |
9 | g.36218197C>T | CA373424946 | CLTA,GNE | c.2012G>A (p.Ser671Asn) c.1742G>A (p.Ser581Asn) c.1919G>A (p.Ser640Asn) c.1697G>A (p.Ser566Asn) c.485+14018C>T (n.485+14018C>T) c.1589G>A (p.Ser530Asn) c.1904G>A (p.Ser635Asn) c.1859G>A (p.Ser620Asn) c.1766G>A (p.Ser589Asn) | |
9 | g.36218198T>A | CA373424947 | CLTA,GNE | c.2011A>T (p.Ser671Cys) c.1741A>T (p.Ser581Cys) c.1918A>T (p.Ser640Cys) c.1696A>T (p.Ser566Cys) c.485+14019T>A (n.485+14019T>A) c.1588A>T (p.Ser530Cys) c.1903A>T (p.Ser635Cys) c.1858A>T (p.Ser620Cys) c.1765A>T (p.Ser589Cys) | |
9 | g.36218198T>C | CA373424951 | CLTA,GNE | c.2011A>G (p.Ser671Gly) c.1741A>G (p.Ser581Gly) c.1918A>G (p.Ser640Gly) c.1696A>G (p.Ser566Gly) c.485+14019T>C (n.485+14019T>C) c.1588A>G (p.Ser530Gly) c.1903A>G (p.Ser635Gly) c.1858A>G (p.Ser620Gly) c.1765A>G (p.Ser589Gly) | |
9 | g.36218198T>G | CA373424949 | CLTA,GNE | c.2011A>C (p.Ser671Arg) c.1741A>C (p.Ser581Arg) c.1918A>C (p.Ser640Arg) c.1696A>C (p.Ser566Arg) c.485+14019T>G (n.485+14019T>G) c.1588A>C (p.Ser530Arg) c.1903A>C (p.Ser635Arg) c.1858A>C (p.Ser620Arg) c.1765A>C (p.Ser589Arg) | |
9 | g.36218199C>A | CA373424953 | CLTA,GNE | c.2010G>T (p.Gln670His) c.1740G>T (p.Gln580His) c.1917G>T (p.Gln639His) c.1695G>T (p.Gln565His) c.485+14020C>A (n.485+14020C>A) c.1587G>T (p.Gln529His) c.1902G>T (p.Gln634His) c.1857G>T (p.Gln619His) c.1764G>T (p.Gln588His) | |
9 | g.36218199C= | CA1846325324 | CLTA,GNE | c.2010G= (p.Gln670=) c.1740G= (p.Gln580=) c.1917G= (p.Gln639=) c.1695G= (p.Gln565=) c.485+14020C= (n.485+14020C=) c.1587G= (p.Gln529=) c.1902G= (p.Gln634=) c.1857G= (p.Gln619=) c.1764G= (p.Gln588=) | |
9 | g.36218199C>G | CA373424954 | CLTA,GNE | c.2010G>C (p.Gln670His) c.1740G>C (p.Gln580His) c.1917G>C (p.Gln639His) c.1695G>C (p.Gln565His) c.485+14020C>G (n.485+14020C>G) c.1587G>C (p.Gln529His) c.1902G>C (p.Gln634His) c.1857G>C (p.Gln619His) c.1764G>C (p.Gln588His) | |
9 | g.36218199C>T | CA464494792 | CLTA,GNE | c.2010G>A (p.Gln670=) c.1740G>A (p.Gln580=) c.1917G>A (p.Gln639=) c.1695G>A (p.Gln565=) c.485+14020C>T (n.485+14020C>T) c.1587G>A (p.Gln529=) c.1902G>A (p.Gln634=) c.1857G>A (p.Gln619=) c.1764G>A (p.Gln588=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36218200T>A | CA373424957 | CLTA,GNE | c.2009A>T (p.Gln670Leu) c.1739A>T (p.Gln580Leu) c.1916A>T (p.Gln639Leu) c.1694A>T (p.Gln565Leu) c.485+14021T>A (n.485+14021T>A) c.1586A>T (p.Gln529Leu) c.1901A>T (p.Gln634Leu) c.1856A>T (p.Gln619Leu) c.1763A>T (p.Gln588Leu) | |
9 | g.36218200T>C | CA373424958 | CLTA,GNE | c.2009A>G (p.Gln670Arg) c.1739A>G (p.Gln580Arg) c.1916A>G (p.Gln639Arg) c.1694A>G (p.Gln565Arg) c.485+14021T>C (n.485+14021T>C) c.1586A>G (p.Gln529Arg) c.1901A>G (p.Gln634Arg) c.1856A>G (p.Gln619Arg) c.1763A>G (p.Gln588Arg) | |
9 | g.36218200T>G | CA373424960 | CLTA,GNE | c.2009A>C (p.Gln670Pro) c.1739A>C (p.Gln580Pro) c.1916A>C (p.Gln639Pro) c.1694A>C (p.Gln565Pro) c.485+14021T>G (n.485+14021T>G) c.1586A>C (p.Gln529Pro) c.1901A>C (p.Gln634Pro) c.1856A>C (p.Gln619Pro) c.1763A>C (p.Gln588Pro) | |
9 | g.36218201G>A | CA10603921 | CLTA,GNE | c.2008C>T (p.Gln670Ter) c.1738C>T (p.Gln580Ter) c.1915C>T (p.Gln639Ter) c.1693C>T (p.Gln565Ter) c.485+14022G>A (n.485+14022G>A) c.1585C>T (p.Gln529Ter) c.1900C>T (p.Gln634Ter) c.1855C>T (p.Gln619Ter) c.1762C>T (p.Gln588Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36218201G>C | CA373424962 | CLTA,GNE | c.2008C>G (p.Gln670Glu) c.1738C>G (p.Gln580Glu) c.1915C>G (p.Gln639Glu) c.1693C>G (p.Gln565Glu) c.485+14022G>C (n.485+14022G>C) c.1585C>G (p.Gln529Glu) c.1900C>G (p.Gln634Glu) c.1855C>G (p.Gln619Glu) c.1762C>G (p.Gln588Glu) | |
9 | g.36218201G= | CA1846325332 | CLTA,GNE | c.2008C= (p.Gln670=) c.1738C= (p.Gln580=) c.1915C= (p.Gln639=) c.1693C= (p.Gln565=) c.485+14022G= (n.485+14022G=) c.1585C= (p.Gln529=) c.1900C= (p.Gln634=) c.1855C= (p.Gln619=) c.1762C= (p.Gln588=) | |
9 | g.36218201G>T | CA373424963 | CLTA,GNE | c.2008C>A (p.Gln670Lys) c.1738C>A (p.Gln580Lys) c.1915C>A (p.Gln639Lys) c.1693C>A (p.Gln565Lys) c.485+14022G>T (n.485+14022G>T) c.1585C>A (p.Gln529Lys) c.1900C>A (p.Gln634Lys) c.1855C>A (p.Gln619Lys) c.1762C>A (p.Gln588Lys) | dbSNP |
9 | g.36218202G>A | CA464494793 | CLTA,GNE | c.2007C>T (p.Ala669=) c.1737C>T (p.Ala579=) c.1914C>T (p.Ala638=) c.1692C>T (p.Ala564=) c.485+14023G>A (n.485+14023G>A) c.1584C>T (p.Ala528=) c.1899C>T (p.Ala633=) c.1854C>T (p.Ala618=) c.1761C>T (p.Ala587=) | |
9 | g.36218202G>C | CA464494794 | CLTA,GNE | c.2007C>G (p.Ala669=) c.1737C>G (p.Ala579=) c.1914C>G (p.Ala638=) c.1692C>G (p.Ala564=) c.485+14023G>C (n.485+14023G>C) c.1584C>G (p.Ala528=) c.1899C>G (p.Ala633=) c.1854C>G (p.Ala618=) c.1761C>G (p.Ala587=) | |
9 | g.36218202G>T | CA464494795 | CLTA,GNE | c.2007C>A (p.Ala669=) c.1737C>A (p.Ala579=) c.1914C>A (p.Ala638=) c.1692C>A (p.Ala564=) c.485+14023G>T (n.485+14023G>T) c.1584C>A (p.Ala528=) c.1899C>A (p.Ala633=) c.1854C>A (p.Ala618=) c.1761C>A (p.Ala587=) | gnomAD v4 |
9 | g.36218203G>A | CA373424965 | CLTA,GNE | c.2006C>T (p.Ala669Val) c.1736C>T (p.Ala579Val) c.1913C>T (p.Ala638Val) c.1691C>T (p.Ala564Val) c.485+14024G>A (n.485+14024G>A) c.1583C>T (p.Ala528Val) c.1898C>T (p.Ala633Val) c.1853C>T (p.Ala618Val) c.1760C>T (p.Ala587Val) | |
9 | g.36218203G>C | CA373424968 | CLTA,GNE | c.2006C>G (p.Ala669Gly) c.1736C>G (p.Ala579Gly) c.1913C>G (p.Ala638Gly) c.1691C>G (p.Ala564Gly) c.485+14024G>C (n.485+14024G>C) c.1583C>G (p.Ala528Gly) c.1898C>G (p.Ala633Gly) c.1853C>G (p.Ala618Gly) c.1760C>G (p.Ala587Gly) | |
9 | g.36218203G>T | CA373424969 | CLTA,GNE | c.2006C>A (p.Ala669Asp) c.1736C>A (p.Ala579Asp) c.1913C>A (p.Ala638Asp) c.1691C>A (p.Ala564Asp) c.485+14024G>T (n.485+14024G>T) c.1583C>A (p.Ala528Asp) c.1898C>A (p.Ala633Asp) c.1853C>A (p.Ala618Asp) c.1760C>A (p.Ala587Asp) | |
9 | g.36218204C>A | CA373424974 | CLTA,GNE | c.2005G>T (p.Ala669Ser) c.1735G>T (p.Ala579Ser) c.1912G>T (p.Ala638Ser) c.1690G>T (p.Ala564Ser) c.485+14025C>A (n.485+14025C>A) c.1582G>T (p.Ala528Ser) c.1897G>T (p.Ala633Ser) c.1852G>T (p.Ala618Ser) c.1759G>T (p.Ala587Ser) | |
9 | g.36218204C>G | CA373424973 | CLTA,GNE | c.2005G>C (p.Ala669Pro) c.1735G>C (p.Ala579Pro) c.1912G>C (p.Ala638Pro) c.1690G>C (p.Ala564Pro) c.485+14025C>G (n.485+14025C>G) c.1582G>C (p.Ala528Pro) c.1897G>C (p.Ala633Pro) c.1852G>C (p.Ala618Pro) c.1759G>C (p.Ala587Pro) | |
9 | g.36218204C>T | CA373424971 | CLTA,GNE | c.2005G>A (p.Ala669Thr) c.1735G>A (p.Ala579Thr) c.1912G>A (p.Ala638Thr) c.1690G>A (p.Ala564Thr) c.485+14025C>T (n.485+14025C>T) c.1582G>A (p.Ala528Thr) c.1897G>A (p.Ala633Thr) c.1852G>A (p.Ala618Thr) c.1759G>A (p.Ala587Thr) | |
9 | g.36218205C>A | CA373424977 | CLTA,GNE | c.2004G>T (p.Lys668Asn) c.1734G>T (p.Lys578Asn) c.1911G>T (p.Lys637Asn) c.1689G>T (p.Lys563Asn) c.485+14026C>A (n.485+14026C>A) c.1581G>T (p.Lys527Asn) c.1896G>T (p.Lys632Asn) c.1851G>T (p.Lys617Asn) c.1758G>T (p.Lys586Asn) | gnomAD v4 |
9 | g.36218205C>G | CA373424975 | CLTA,GNE | c.2004G>C (p.Lys668Asn) c.1734G>C (p.Lys578Asn) c.1911G>C (p.Lys637Asn) c.1689G>C (p.Lys563Asn) c.485+14026C>G (n.485+14026C>G) c.1581G>C (p.Lys527Asn) c.1896G>C (p.Lys632Asn) c.1851G>C (p.Lys617Asn) c.1758G>C (p.Lys586Asn) | COSMIC COSMIC COSMIC |
9 | g.36218205C>T | CA464494796 | CLTA,GNE | c.2004G>A (p.Lys668=) c.1734G>A (p.Lys578=) c.1911G>A (p.Lys637=) c.1689G>A (p.Lys563=) c.485+14026C>T (n.485+14026C>T) c.1581G>A (p.Lys527=) c.1896G>A (p.Lys632=) c.1851G>A (p.Lys617=) c.1758G>A (p.Lys586=) | |
9 | g.36218206T>A | CA373424981 | CLTA,GNE | c.2003A>T (p.Lys668Met) c.1733A>T (p.Lys578Met) c.1910A>T (p.Lys637Met) c.1688A>T (p.Lys563Met) c.485+14027T>A (n.485+14027T>A) c.1580A>T (p.Lys527Met) c.1895A>T (p.Lys632Met) c.1850A>T (p.Lys617Met) c.1757A>T (p.Lys586Met) | |
9 | g.36218206T>C | CA373424979 | CLTA,GNE | c.2003A>G (p.Lys668Arg) c.1733A>G (p.Lys578Arg) c.1910A>G (p.Lys637Arg) c.1688A>G (p.Lys563Arg) c.485+14027T>C (n.485+14027T>C) c.1580A>G (p.Lys527Arg) c.1895A>G (p.Lys632Arg) c.1850A>G (p.Lys617Arg) c.1757A>G (p.Lys586Arg) | |
9 | g.36218206T>G | CA373424982 | CLTA,GNE | c.2003A>C (p.Lys668Thr) c.1733A>C (p.Lys578Thr) c.1910A>C (p.Lys637Thr) c.1688A>C (p.Lys563Thr) c.485+14027T>G (n.485+14027T>G) c.1580A>C (p.Lys527Thr) c.1895A>C (p.Lys632Thr) c.1850A>C (p.Lys617Thr) c.1757A>C (p.Lys586Thr) | |
9 | g.36218207T>A | CA373424984 | CLTA,GNE | c.2002A>T (p.Lys668Ter) c.1732A>T (p.Lys578Ter) c.1909A>T (p.Lys637Ter) c.1687A>T (p.Lys563Ter) c.485+14028T>A (n.485+14028T>A) c.1579A>T (p.Lys527Ter) c.1894A>T (p.Lys632Ter) c.1849A>T (p.Lys617Ter) c.1756A>T (p.Lys586Ter) | |
9 | g.36218207T>C | CA373424991 | CLTA,GNE | c.2002A>G (p.Lys668Glu) c.1732A>G (p.Lys578Glu) c.1909A>G (p.Lys637Glu) c.1687A>G (p.Lys563Glu) c.485+14028T>C (n.485+14028T>C) c.1579A>G (p.Lys527Glu) c.1894A>G (p.Lys632Glu) c.1849A>G (p.Lys617Glu) c.1756A>G (p.Lys586Glu) | dbSNP |
9 | g.36218207T>G | CA373424989 | CLTA,GNE | c.2002A>C (p.Lys668Gln) c.1732A>C (p.Lys578Gln) c.1909A>C (p.Lys637Gln) c.1687A>C (p.Lys563Gln) c.485+14028T>G (n.485+14028T>G) c.1579A>C (p.Lys527Gln) c.1894A>C (p.Lys632Gln) c.1849A>C (p.Lys617Gln) c.1756A>C (p.Lys586Gln) | |
9 | g.36218207T= | CA1846325346 | CLTA,GNE | c.2002A= (p.Lys668=) c.1732A= (p.Lys578=) c.1909A= (p.Lys637=) c.1687A= (p.Lys563=) c.485+14028T= (n.485+14028T=) c.1579A= (p.Lys527=) c.1894A= (p.Lys632=) c.1849A= (p.Lys617=) c.1756A= (p.Lys586=) | |
9 | g.36218208C>A | CA464494797 | CLTA,GNE | c.2001G>T (p.Ala667=) c.1731G>T (p.Ala577=) c.1908G>T (p.Ala636=) c.1686G>T (p.Ala562=) c.485+14029C>A (n.485+14029C>A) c.1578G>T (p.Ala526=) c.1893G>T (p.Ala631=) c.1848G>T (p.Ala616=) c.1755G>T (p.Ala585=) | dbSNP gnomAD v2 |
9 | g.36218208C= | CA1846325353 | CLTA,GNE | c.2001G= (p.Ala667=) c.1731G= (p.Ala577=) c.1908G= (p.Ala636=) c.1686G= (p.Ala562=) c.485+14029C= (n.485+14029C=) c.1578G= (p.Ala526=) c.1893G= (p.Ala631=) c.1848G= (p.Ala616=) c.1755G= (p.Ala585=) | |
9 | g.36218208C>G | CA464494798 | CLTA,GNE | c.2001G>C (p.Ala667=) c.1731G>C (p.Ala577=) c.1908G>C (p.Ala636=) c.1686G>C (p.Ala562=) c.485+14029C>G (n.485+14029C>G) c.1578G>C (p.Ala526=) c.1893G>C (p.Ala631=) c.1848G>C (p.Ala616=) c.1755G>C (p.Ala585=) | |
9 | g.36218208C>T | CA5056395 | CLTA,GNE | c.2001G>A (p.Ala667=) c.1731G>A (p.Ala577=) c.1908G>A (p.Ala636=) c.1686G>A (p.Ala562=) c.485+14029C>T (n.485+14029C>T) c.1578G>A (p.Ala526=) c.1893G>A (p.Ala631=) c.1848G>A (p.Ala616=) c.1755G>A (p.Ala585=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36218209G>A | CA5056396 | CLTA,GNE | c.2000C>T (p.Ala667Val) c.1730C>T (p.Ala577Val) c.1907C>T (p.Ala636Val) c.1685C>T (p.Ala562Val) c.485+14030G>A (n.485+14030G>A) c.1577C>T (p.Ala526Val) c.1892C>T (p.Ala631Val) c.1847C>T (p.Ala616Val) c.1754C>T (p.Ala585Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36218209G>C | CA373424992 | CLTA,GNE | c.2000C>G (p.Ala667Gly) c.1730C>G (p.Ala577Gly) c.1907C>G (p.Ala636Gly) c.1685C>G (p.Ala562Gly) c.485+14030G>C (n.485+14030G>C) c.1577C>G (p.Ala526Gly) c.1892C>G (p.Ala631Gly) c.1847C>G (p.Ala616Gly) c.1754C>G (p.Ala585Gly) | |
9 | g.36218209G= | CA1846325360 | CLTA,GNE | c.2000C= (p.Ala667=) c.1730C= (p.Ala577=) c.1907C= (p.Ala636=) c.1685C= (p.Ala562=) c.485+14030G= (n.485+14030G=) c.1577C= (p.Ala526=) c.1892C= (p.Ala631=) c.1847C= (p.Ala616=) c.1754C= (p.Ala585=) | |
9 | g.36218209G>T | CA373424994 | CLTA,GNE | c.2000C>A (p.Ala667Glu) c.1730C>A (p.Ala577Glu) c.1907C>A (p.Ala636Glu) c.1685C>A (p.Ala562Glu) c.485+14030G>T (n.485+14030G>T) c.1577C>A (p.Ala526Glu) c.1892C>A (p.Ala631Glu) c.1847C>A (p.Ala616Glu) c.1754C>A (p.Ala585Glu) | gnomAD v4 |
9 | g.36218210C>A | CA373424996 | CLTA,GNE | c.1999G>T (p.Ala667Ser) c.1729G>T (p.Ala577Ser) c.1906G>T (p.Ala636Ser) c.1684G>T (p.Ala562Ser) c.485+14031C>A (n.485+14031C>A) c.1576G>T (p.Ala526Ser) c.1891G>T (p.Ala631Ser) c.1846G>T (p.Ala616Ser) c.1753G>T (p.Ala585Ser) | |
9 | g.36218210C>G | CA373424998 | CLTA,GNE | c.1999G>C (p.Ala667Pro) c.1729G>C (p.Ala577Pro) c.1906G>C (p.Ala636Pro) c.1684G>C (p.Ala562Pro) c.485+14031C>G (n.485+14031C>G) c.1576G>C (p.Ala526Pro) c.1891G>C (p.Ala631Pro) c.1846G>C (p.Ala616Pro) c.1753G>C (p.Ala585Pro) | |
9 | g.36218210C>T | CA373424999 | CLTA,GNE | c.1999G>A (p.Ala667Thr) c.1729G>A (p.Ala577Thr) c.1906G>A (p.Ala636Thr) c.1684G>A (p.Ala562Thr) c.485+14031C>T (n.485+14031C>T) c.1576G>A (p.Ala526Thr) c.1891G>A (p.Ala631Thr) c.1846G>A (p.Ala616Thr) c.1753G>A (p.Ala585Thr) | |
9 | g.36218211A>C | CA373425001 | CLTA,GNE | c.1998T>G (p.Asn666Lys) c.1728T>G (p.Asn576Lys) c.1905T>G (p.Asn635Lys) c.1683T>G (p.Asn561Lys) c.485+14032A>C (n.485+14032A>C) c.1575T>G (p.Asn525Lys) c.1890T>G (p.Asn630Lys) c.1845T>G (p.Asn615Lys) c.1752T>G (p.Asn584Lys) | |
9 | g.36218211A>G | CA464494800 | CLTA,GNE | c.1998T>C (p.Asn666=) c.1728T>C (p.Asn576=) c.1905T>C (p.Asn635=) c.1683T>C (p.Asn561=) c.485+14032A>G (n.485+14032A>G) c.1575T>C (p.Asn525=) c.1890T>C (p.Asn630=) c.1845T>C (p.Asn615=) c.1752T>C (p.Asn584=) | |
9 | g.36218211A>T | CA373425000 | CLTA,GNE | c.1998T>A (p.Asn666Lys) c.1728T>A (p.Asn576Lys) c.1905T>A (p.Asn635Lys) c.1683T>A (p.Asn561Lys) c.485+14032A>T (n.485+14032A>T) c.1575T>A (p.Asn525Lys) c.1890T>A (p.Asn630Lys) c.1845T>A (p.Asn615Lys) c.1752T>A (p.Asn584Lys) | |
9 | g.36218212T>A | CA373425002 | CLTA,GNE | c.1997A>T (p.Asn666Ile) c.1727A>T (p.Asn576Ile) c.1904A>T (p.Asn635Ile) c.1682A>T (p.Asn561Ile) c.485+14033T>A (n.485+14033T>A) c.1574A>T (p.Asn525Ile) c.1889A>T (p.Asn630Ile) c.1844A>T (p.Asn615Ile) c.1751A>T (p.Asn584Ile) | |
9 | g.36218212T>C | CA373425003 | CLTA,GNE | c.1997A>G (p.Asn666Ser) c.1727A>G (p.Asn576Ser) c.1904A>G (p.Asn635Ser) c.1682A>G (p.Asn561Ser) c.485+14033T>C (n.485+14033T>C) c.1574A>G (p.Asn525Ser) c.1889A>G (p.Asn630Ser) c.1844A>G (p.Asn615Ser) c.1751A>G (p.Asn584Ser) | gnomAD v4 |
9 | g.36218212T>G | CA373425004 | CLTA,GNE | c.1997A>C (p.Asn666Thr) c.1727A>C (p.Asn576Thr) c.1904A>C (p.Asn635Thr) c.1682A>C (p.Asn561Thr) c.485+14033T>G (n.485+14033T>G) c.1574A>C (p.Asn525Thr) c.1889A>C (p.Asn630Thr) c.1844A>C (p.Asn615Thr) c.1751A>C (p.Asn584Thr) | |
9 | g.36218213T>A | CA373425005 | CLTA,GNE | c.1996A>T (p.Asn666Tyr) c.1726A>T (p.Asn576Tyr) c.1903A>T (p.Asn635Tyr) c.1681A>T (p.Asn561Tyr) c.485+14034T>A (n.485+14034T>A) c.1573A>T (p.Asn525Tyr) c.1888A>T (p.Asn630Tyr) c.1843A>T (p.Asn615Tyr) c.1750A>T (p.Asn584Tyr) | |
9 | g.36218213T>C | CA373425006 | CLTA,GNE | c.1996A>G (p.Asn666Asp) c.1726A>G (p.Asn576Asp) c.1903A>G (p.Asn635Asp) c.1681A>G (p.Asn561Asp) c.485+14034T>C (n.485+14034T>C) c.1573A>G (p.Asn525Asp) c.1888A>G (p.Asn630Asp) c.1843A>G (p.Asn615Asp) c.1750A>G (p.Asn584Asp) | |
9 | g.36218213T>G | CA373425007 | CLTA,GNE | c.1996A>C (p.Asn666His) c.1726A>C (p.Asn576His) c.1903A>C (p.Asn635His) c.1681A>C (p.Asn561His) c.485+14034T>G (n.485+14034T>G) c.1573A>C (p.Asn525His) c.1888A>C (p.Asn630His) c.1843A>C (p.Asn615His) c.1750A>C (p.Asn584His) | |
9 | g.36218232_36218233insCTGCCAAGTTTCGCAGCTTGG | CA2741015576 | CLTA,GNE | c.1996_1997insGCCAAGCTGCGAAACTTGGCA (p.Gly665_Asn666insSerGlnAlaAlaLysLeuGly) c.1726_1727insGCCAAGCTGCGAAACTTGGCA (p.Gly575_Asn576insSerGlnAlaAlaLysLeuGly) c.1903_1904insGCCAAGCTGCGAAACTTGGCA (p.Gly634_Asn635insSerGlnAlaAlaLysLeuGly) c.1681_1682insGCCAAGCTGCGAAACTTGGCA (p.Gly560_Asn561insSerGlnAlaAlaLysLeuGly) c.485+14053_485+14054insCTGCCAAGTTTCGCAGCTTGG (n.485+14053_485+14054insCTGCCAAGTTTCGCAGCTTGG) c.1573_1574insGCCAAGCTGCGAAACTTGGCA (p.Gly524_Asn525insSerGlnAlaAlaLysLeuGly) c.1888_1889insGCCAAGCTGCGAAACTTGGCA (p.Gly629_Asn630insSerGlnAlaAlaLysLeuGly) c.1843_1844insGCCAAGCTGCGAAACTTGGCA (p.Gly614_Asn615insSerGlnAlaAlaLysLeuGly) c.1750_1751insGCCAAGCTGCGAAACTTGGCA (p.Gly583_Asn584insSerGlnAlaAlaLysLeuGly) | |
9 | g.36218214G>A | CA464494802 | CLTA,GNE | c.1995C>T (p.Gly665=) c.1725C>T (p.Gly575=) c.1902C>T (p.Gly634=) c.1680C>T (p.Gly560=) c.485+14035G>A (n.485+14035G>A) c.1572C>T (p.Gly524=) c.1887C>T (p.Gly629=) c.1842C>T (p.Gly614=) c.1749C>T (p.Gly583=) | gnomAD v4 |
9 | g.36218214G>C | CA464494804 | CLTA,GNE | c.1995C>G (p.Gly665=) c.1725C>G (p.Gly575=) c.1902C>G (p.Gly634=) c.1680C>G (p.Gly560=) c.485+14035G>C (n.485+14035G>C) c.1572C>G (p.Gly524=) c.1887C>G (p.Gly629=) c.1842C>G (p.Gly614=) c.1749C>G (p.Gly583=) | |
9 | g.36218214G>T | CA464494803 | CLTA,GNE | c.1995C>A (p.Gly665=) c.1725C>A (p.Gly575=) c.1902C>A (p.Gly634=) c.1680C>A (p.Gly560=) c.485+14035G>T (n.485+14035G>T) c.1572C>A (p.Gly524=) c.1887C>A (p.Gly629=) c.1842C>A (p.Gly614=) c.1749C>A (p.Gly583=) | |
9 | g.36218215C>A | CA373425008 | CLTA,GNE | c.1994G>T (p.Gly665Val) c.1724G>T (p.Gly575Val) c.1901G>T (p.Gly634Val) c.1679G>T (p.Gly560Val) c.485+14036C>A (n.485+14036C>A) c.1571G>T (p.Gly524Val) c.1886G>T (p.Gly629Val) c.1841G>T (p.Gly614Val) c.1748G>T (p.Gly583Val) | |
9 | g.36218215C>G | CA373425010 | CLTA,GNE | c.1994G>C (p.Gly665Ala) c.1724G>C (p.Gly575Ala) c.1901G>C (p.Gly634Ala) c.1679G>C (p.Gly560Ala) c.485+14036C>G (n.485+14036C>G) c.1571G>C (p.Gly524Ala) c.1886G>C (p.Gly629Ala) c.1841G>C (p.Gly614Ala) c.1748G>C (p.Gly583Ala) | |
9 | g.36218215C>T | CA373425009 | CLTA,GNE | c.1994G>A (p.Gly665Asp) c.1724G>A (p.Gly575Asp) c.1901G>A (p.Gly634Asp) c.1679G>A (p.Gly560Asp) c.485+14036C>T (n.485+14036C>T) c.1571G>A (p.Gly524Asp) c.1886G>A (p.Gly629Asp) c.1841G>A (p.Gly614Asp) c.1748G>A (p.Gly583Asp) | |
9 | g.36218216C>A | CA373425012 | CLTA,GNE | c.1993G>T (p.Gly665Cys) c.1723G>T (p.Gly575Cys) c.1900G>T (p.Gly634Cys) c.1678G>T (p.Gly560Cys) c.485+14037C>A (n.485+14037C>A) c.1570G>T (p.Gly524Cys) c.1885G>T (p.Gly629Cys) c.1840G>T (p.Gly614Cys) c.1747G>T (p.Gly583Cys) | |
9 | g.36218216C= | CA1846325371 | CLTA,GNE | c.1993G= (p.Gly665=) c.1723G= (p.Gly575=) c.1900G= (p.Gly634=) c.1678G= (p.Gly560=) c.485+14037C= (n.485+14037C=) c.1570G= (p.Gly524=) c.1885G= (p.Gly629=) c.1840G= (p.Gly614=) c.1747G= (p.Gly583=) | |
9 | g.36218216C>G | CA373425013 | CLTA,GNE | c.1993G>C (p.Gly665Arg) c.1723G>C (p.Gly575Arg) c.1900G>C (p.Gly634Arg) c.1678G>C (p.Gly560Arg) c.485+14037C>G (n.485+14037C>G) c.1570G>C (p.Gly524Arg) c.1885G>C (p.Gly629Arg) c.1840G>C (p.Gly614Arg) c.1747G>C (p.Gly583Arg) | |
9 | g.36218216C>T | CA373425015 | CLTA,GNE | c.1993G>A (p.Gly665Ser) c.1723G>A (p.Gly575Ser) c.1900G>A (p.Gly634Ser) c.1678G>A (p.Gly560Ser) c.485+14037C>T (n.485+14037C>T) c.1570G>A (p.Gly524Ser) c.1885G>A (p.Gly629Ser) c.1840G>A (p.Gly614Ser) c.1747G>A (p.Gly583Ser) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36218217A>C | CA464494805 | CLTA,GNE | c.1992T>G (p.Leu664=) c.1722T>G (p.Leu574=) c.1899T>G (p.Leu633=) c.1677T>G (p.Leu559=) c.485+14038A>C (n.485+14038A>C) c.1569T>G (p.Leu523=) c.1884T>G (p.Leu628=) c.1839T>G (p.Leu613=) c.1746T>G (p.Leu582=) | |
9 | g.36218217A>G | CA464494806 | CLTA,GNE | c.1992T>C (p.Leu664=) c.1722T>C (p.Leu574=) c.1899T>C (p.Leu633=) c.1677T>C (p.Leu559=) c.485+14038A>G (n.485+14038A>G) c.1569T>C (p.Leu523=) c.1884T>C (p.Leu628=) c.1839T>C (p.Leu613=) c.1746T>C (p.Leu582=) | |
9 | g.36218217A>T | CA464494807 | CLTA,GNE | c.1992T>A (p.Leu664=) c.1722T>A (p.Leu574=) c.1899T>A (p.Leu633=) c.1677T>A (p.Leu559=) c.485+14038A>T (n.485+14038A>T) c.1569T>A (p.Leu523=) c.1884T>A (p.Leu628=) c.1839T>A (p.Leu613=) c.1746T>A (p.Leu582=) | |
9 | g.36218217_36218225delinsAAGTTTCGC | CA1846325376 | CLTA,GNE | c.1984_1992delinsGCGAAACTT (p.Ala662=) c.1714_1722delinsGCGAAACTT (p.Ala572=) c.1891_1899delinsGCGAAACTT (p.Ala631=) c.1669_1677delinsGCGAAACTT (p.Ala557=) c.485+14038_485+14046delinsAAGTTTCGC (n.485+14038_485+14046delinsAAGTTTCGC) c.1561_1569delinsGCGAAACTT (p.Ala521=) c.1876_1884delinsGCGAAACTT (p.Ala626=) c.1831_1839delinsGCGAAACTT (p.Ala611=) c.1738_1746delinsGCGAAACTT (p.Ala580=) | |
9 | g.36218218A>C | CA373425016 | CLTA,GNE | c.1991T>G (p.Leu664Arg) c.1721T>G (p.Leu574Arg) c.1898T>G (p.Leu633Arg) c.1676T>G (p.Leu559Arg) c.485+14039A>C (n.485+14039A>C) c.1568T>G (p.Leu523Arg) c.1883T>G (p.Leu628Arg) c.1838T>G (p.Leu613Arg) c.1745T>G (p.Leu582Arg) | |
9 | g.36218218A>G | CA373425018 | CLTA,GNE | c.1991T>C (p.Leu664Pro) c.1721T>C (p.Leu574Pro) c.1898T>C (p.Leu633Pro) c.1676T>C (p.Leu559Pro) c.485+14039A>G (n.485+14039A>G) c.1568T>C (p.Leu523Pro) c.1883T>C (p.Leu628Pro) c.1838T>C (p.Leu613Pro) c.1745T>C (p.Leu582Pro) | gnomAD v4 |
9 | g.36218218A>T | CA373425019 | CLTA,GNE | c.1991T>A (p.Leu664His) c.1721T>A (p.Leu574His) c.1898T>A (p.Leu633His) c.1676T>A (p.Leu559His) c.485+14039A>T (n.485+14039A>T) c.1568T>A (p.Leu523His) c.1883T>A (p.Leu628His) c.1838T>A (p.Leu613His) c.1745T>A (p.Leu582His) | gnomAD v4 |
9 | g.36218220_36218227del | CA863603254 | CLTA,GNE | c.1984_1991del (p.Ala662TrpfsTer?) c.1714_1721del (p.Ala572TrpfsTer?) c.1891_1898del (p.Ala631TrpfsTer?) c.1669_1676del (p.Ala557TrpfsTer?) c.485+14041_485+14048del (n.485+14041_485+14048del) c.1561_1568del (p.Ala521TrpfsTer?) c.1876_1883del (p.Ala626TrpfsTer?) c.1831_1838del (p.Ala611TrpfsTer?) c.1738_1745del (p.Ala580TrpfsTer?) | dbSNP |
9 | g.36218219G>A | CA373425021 | CLTA,GNE | c.1990C>T (p.Leu664Phe) c.1720C>T (p.Leu574Phe) c.1897C>T (p.Leu633Phe) c.1675C>T (p.Leu559Phe) c.485+14040G>A (n.485+14040G>A) c.1567C>T (p.Leu523Phe) c.1882C>T (p.Leu628Phe) c.1837C>T (p.Leu613Phe) c.1744C>T (p.Leu582Phe) | gnomAD v4 |
9 | g.36218219G>C | CA373425022 | CLTA,GNE | c.1990C>G (p.Leu664Val) c.1720C>G (p.Leu574Val) c.1897C>G (p.Leu633Val) c.1675C>G (p.Leu559Val) c.485+14040G>C (n.485+14040G>C) c.1567C>G (p.Leu523Val) c.1882C>G (p.Leu628Val) c.1837C>G (p.Leu613Val) c.1744C>G (p.Leu582Val) | |
9 | g.36218219G>T | CA373425023 | CLTA,GNE | c.1990C>A (p.Leu664Ile) c.1720C>A (p.Leu574Ile) c.1897C>A (p.Leu633Ile) c.1675C>A (p.Leu559Ile) c.485+14040G>T (n.485+14040G>T) c.1567C>A (p.Leu523Ile) c.1882C>A (p.Leu628Ile) c.1837C>A (p.Leu613Ile) c.1744C>A (p.Leu582Ile) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36218220T>A | CA373425024 | CLTA,GNE | c.1989A>T (p.Lys663Asn) c.1719A>T (p.Lys573Asn) c.1896A>T (p.Lys632Asn) c.1674A>T (p.Lys558Asn) c.485+14041T>A (n.485+14041T>A) c.1566A>T (p.Lys522Asn) c.1881A>T (p.Lys627Asn) c.1836A>T (p.Lys612Asn) c.1743A>T (p.Lys581Asn) | |
9 | g.36218220T>C | CA464494808 | CLTA,GNE | c.1989A>G (p.Lys663=) c.1719A>G (p.Lys573=) c.1896A>G (p.Lys632=) c.1674A>G (p.Lys558=) c.485+14041T>C (n.485+14041T>C) c.1566A>G (p.Lys522=) c.1881A>G (p.Lys627=) c.1836A>G (p.Lys612=) c.1743A>G (p.Lys581=) | |
9 | g.36218220T>G | CA373425025 | CLTA,GNE | c.1989A>C (p.Lys663Asn) c.1719A>C (p.Lys573Asn) c.1896A>C (p.Lys632Asn) c.1674A>C (p.Lys558Asn) c.485+14041T>G (n.485+14041T>G) c.1566A>C (p.Lys522Asn) c.1881A>C (p.Lys627Asn) c.1836A>C (p.Lys612Asn) c.1743A>C (p.Lys581Asn) | |
9 | g.36218221T>A | CA373425027 | CLTA,GNE | c.1988A>T (p.Lys663Ile) c.1718A>T (p.Lys573Ile) c.1895A>T (p.Lys632Ile) c.1673A>T (p.Lys558Ile) c.485+14042T>A (n.485+14042T>A) c.1565A>T (p.Lys522Ile) c.1880A>T (p.Lys627Ile) c.1835A>T (p.Lys612Ile) c.1742A>T (p.Lys581Ile) | |
9 | g.36218221T>C | CA373425029 | CLTA,GNE | c.1988A>G (p.Lys663Arg) c.1718A>G (p.Lys573Arg) c.1895A>G (p.Lys632Arg) c.1673A>G (p.Lys558Arg) c.485+14042T>C (n.485+14042T>C) c.1565A>G (p.Lys522Arg) c.1880A>G (p.Lys627Arg) c.1835A>G (p.Lys612Arg) c.1742A>G (p.Lys581Arg) | |
9 | g.36218221T>G | CA373425028 | CLTA,GNE | c.1988A>C (p.Lys663Thr) c.1718A>C (p.Lys573Thr) c.1895A>C (p.Lys632Thr) c.1673A>C (p.Lys558Thr) c.485+14042T>G (n.485+14042T>G) c.1565A>C (p.Lys522Thr) c.1880A>C (p.Lys627Thr) c.1835A>C (p.Lys612Thr) c.1742A>C (p.Lys581Thr) | |
9 | g.36218222T>A | CA373425030 | CLTA,GNE | c.1987A>T (p.Lys663Ter) c.1717A>T (p.Lys573Ter) c.1894A>T (p.Lys632Ter) c.1672A>T (p.Lys558Ter) c.485+14043T>A (n.485+14043T>A) c.1564A>T (p.Lys522Ter) c.1879A>T (p.Lys627Ter) c.1834A>T (p.Lys612Ter) c.1741A>T (p.Lys581Ter) | |
9 | g.36218222T>C | CA373425031 | CLTA,GNE | c.1987A>G (p.Lys663Glu) c.1717A>G (p.Lys573Glu) c.1894A>G (p.Lys632Glu) c.1672A>G (p.Lys558Glu) c.485+14043T>C (n.485+14043T>C) c.1564A>G (p.Lys522Glu) c.1879A>G (p.Lys627Glu) c.1834A>G (p.Lys612Glu) c.1741A>G (p.Lys581Glu) | |
9 | g.36218222T>G | CA373425032 | CLTA,GNE | c.1987A>C (p.Lys663Gln) c.1717A>C (p.Lys573Gln) c.1894A>C (p.Lys632Gln) c.1672A>C (p.Lys558Gln) c.485+14043T>G (n.485+14043T>G) c.1564A>C (p.Lys522Gln) c.1879A>C (p.Lys627Gln) c.1834A>C (p.Lys612Gln) c.1741A>C (p.Lys581Gln) | |
9 | g.36218223C>A | CA464494810 | CLTA,GNE | c.1986G>T (p.Ala662=) c.1716G>T (p.Ala572=) c.1893G>T (p.Ala631=) c.1671G>T (p.Ala557=) c.485+14044C>A (n.485+14044C>A) c.1563G>T (p.Ala521=) c.1878G>T (p.Ala626=) c.1833G>T (p.Ala611=) c.1740G>T (p.Ala580=) | |
9 | g.36218223C= | CA1846325387 | CLTA,GNE | c.1986G= (p.Ala662=) c.1716G= (p.Ala572=) c.1893G= (p.Ala631=) c.1671G= (p.Ala557=) c.485+14044C= (n.485+14044C=) c.1563G= (p.Ala521=) c.1878G= (p.Ala626=) c.1833G= (p.Ala611=) c.1740G= (p.Ala580=) | |
9 | g.36218223C>G | CA464494811 | CLTA,GNE | c.1986G>C (p.Ala662=) c.1716G>C (p.Ala572=) c.1893G>C (p.Ala631=) c.1671G>C (p.Ala557=) c.485+14044C>G (n.485+14044C>G) c.1563G>C (p.Ala521=) c.1878G>C (p.Ala626=) c.1833G>C (p.Ala611=) c.1740G>C (p.Ala580=) | |
9 | g.36218223C>T | CA5056397 | CLTA,GNE | c.1986G>A (p.Ala662=) c.1716G>A (p.Ala572=) c.1893G>A (p.Ala631=) c.1671G>A (p.Ala557=) c.485+14044C>T (n.485+14044C>T) c.1563G>A (p.Ala521=) c.1878G>A (p.Ala626=) c.1833G>A (p.Ala611=) c.1740G>A (p.Ala580=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36218224G>A | CA253717 | CLTA,GNE | c.1985C>T (p.Ala662Val) c.1715C>T (p.Ala572Val) c.1892C>T (p.Ala631Val) c.1670C>T (p.Ala557Val) c.485+14045G>A (n.485+14045G>A) c.1562C>T (p.Ala521Val) c.1877C>T (p.Ala626Val) c.1832C>T (p.Ala611Val) c.1739C>T (p.Ala580Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36218224G>C | CA373425036 | CLTA,GNE | c.1985C>G (p.Ala662Gly) c.1715C>G (p.Ala572Gly) c.1892C>G (p.Ala631Gly) c.1670C>G (p.Ala557Gly) c.485+14045G>C (n.485+14045G>C) c.1562C>G (p.Ala521Gly) c.1877C>G (p.Ala626Gly) c.1832C>G (p.Ala611Gly) c.1739C>G (p.Ala580Gly) | |
9 | g.36218224G= | CA1846325393 | CLTA,GNE | c.1985C= (p.Ala662=) c.1715C= (p.Ala572=) c.1892C= (p.Ala631=) c.1670C= (p.Ala557=) c.485+14045G= (n.485+14045G=) c.1562C= (p.Ala521=) c.1877C= (p.Ala626=) c.1832C= (p.Ala611=) c.1739C= (p.Ala580=) | |
9 | g.36218224G>T | CA373425037 | CLTA,GNE | c.1985C>A (p.Ala662Glu) c.1715C>A (p.Ala572Glu) c.1892C>A (p.Ala631Glu) c.1670C>A (p.Ala557Glu) c.485+14045G>T (n.485+14045G>T) c.1562C>A (p.Ala521Glu) c.1877C>A (p.Ala626Glu) c.1832C>A (p.Ala611Glu) c.1739C>A (p.Ala580Glu) | |
9 | g.36218225C>A | CA373425038 | CLTA,GNE | c.1984G>T (p.Ala662Ser) c.1714G>T (p.Ala572Ser) c.1891G>T (p.Ala631Ser) c.1669G>T (p.Ala557Ser) c.485+14046C>A (n.485+14046C>A) c.1561G>T (p.Ala521Ser) c.1876G>T (p.Ala626Ser) c.1831G>T (p.Ala611Ser) c.1738G>T (p.Ala580Ser) | |
9 | g.36218225C= | CA1846325413 | CLTA,GNE | c.1984G= (p.Ala662=) c.1714G= (p.Ala572=) c.1891G= (p.Ala631=) c.1669G= (p.Ala557=) c.485+14046C= (n.485+14046C=) c.1561G= (p.Ala521=) c.1876G= (p.Ala626=) c.1831G= (p.Ala611=) c.1738G= (p.Ala580=) | |
9 | g.36218225C>G | CA373425039 | CLTA,GNE | c.1984G>C (p.Ala662Pro) c.1714G>C (p.Ala572Pro) c.1891G>C (p.Ala631Pro) c.1669G>C (p.Ala557Pro) c.485+14046C>G (n.485+14046C>G) c.1561G>C (p.Ala521Pro) c.1876G>C (p.Ala626Pro) c.1831G>C (p.Ala611Pro) c.1738G>C (p.Ala580Pro) | |
9 | g.36218225C>T | CA253683 | CLTA,GNE | c.1984G>A (p.Ala662Thr) c.1714G>A (p.Ala572Thr) c.1891G>A (p.Ala631Thr) c.1669G>A (p.Ala557Thr) c.485+14046C>T (n.485+14046C>T) c.1561G>A (p.Ala521Thr) c.1876G>A (p.Ala626Thr) c.1831G>A (p.Ala611Thr) c.1738G>A (p.Ala580Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36218226A>C | CA464494812 | CLTA,GNE | c.1983T>G (p.Ala661=) c.1713T>G (p.Ala571=) c.1890T>G (p.Ala630=) c.1668T>G (p.Ala556=) c.485+14047A>C (n.485+14047A>C) c.1560T>G (p.Ala520=) c.1875T>G (p.Ala625=) c.1830T>G (p.Ala610=) c.1737T>G (p.Ala579=) | |
9 | g.36218226A>G | CA464494813 | CLTA,GNE | c.1983T>C (p.Ala661=) c.1713T>C (p.Ala571=) c.1890T>C (p.Ala630=) c.1668T>C (p.Ala556=) c.485+14047A>G (n.485+14047A>G) c.1560T>C (p.Ala520=) c.1875T>C (p.Ala625=) c.1830T>C (p.Ala610=) c.1737T>C (p.Ala579=) | |
9 | g.36218226A>T | CA464494814 | CLTA,GNE | c.1983T>A (p.Ala661=) c.1713T>A (p.Ala571=) c.1890T>A (p.Ala630=) c.1668T>A (p.Ala556=) c.485+14047A>T (n.485+14047A>T) c.1560T>A (p.Ala520=) c.1875T>A (p.Ala625=) c.1830T>A (p.Ala610=) c.1737T>A (p.Ala579=) | |
9 | g.36218227G>A | CA373425042 | CLTA,GNE | c.1982C>T (p.Ala661Val) c.1712C>T (p.Ala571Val) c.1889C>T (p.Ala630Val) c.1667C>T (p.Ala556Val) c.485+14048G>A (n.485+14048G>A) c.1559C>T (p.Ala520Val) c.1874C>T (p.Ala625Val) c.1829C>T (p.Ala610Val) c.1736C>T (p.Ala579Val) | |
9 | g.36218227G>C | CA373425044 | CLTA,GNE | c.1982C>G (p.Ala661Gly) c.1712C>G (p.Ala571Gly) c.1889C>G (p.Ala630Gly) c.1667C>G (p.Ala556Gly) c.485+14048G>C (n.485+14048G>C) c.1559C>G (p.Ala520Gly) c.1874C>G (p.Ala625Gly) c.1829C>G (p.Ala610Gly) c.1736C>G (p.Ala579Gly) | |
9 | g.36218227G>T | CA373425045 | CLTA,GNE | c.1982C>A (p.Ala661Asp) c.1712C>A (p.Ala571Asp) c.1889C>A (p.Ala630Asp) c.1667C>A (p.Ala556Asp) c.485+14048G>T (n.485+14048G>T) c.1559C>A (p.Ala520Asp) c.1874C>A (p.Ala625Asp) c.1829C>A (p.Ala610Asp) c.1736C>A (p.Ala579Asp) | |
9 | g.36218228C>A | CA373425047 | CLTA,GNE | c.1981G>T (p.Ala661Ser) c.1711G>T (p.Ala571Ser) c.1888G>T (p.Ala630Ser) c.1666G>T (p.Ala556Ser) c.485+14049C>A (n.485+14049C>A) c.1558G>T (p.Ala520Ser) c.1873G>T (p.Ala625Ser) c.1828G>T (p.Ala610Ser) c.1735G>T (p.Ala579Ser) | |
9 | g.36218228C= | CA1846325423 | CLTA,GNE | c.1981G= (p.Ala661=) c.1711G= (p.Ala571=) c.1888G= (p.Ala630=) c.1666G= (p.Ala556=) c.485+14049C= (n.485+14049C=) c.1558G= (p.Ala520=) c.1873G= (p.Ala625=) c.1828G= (p.Ala610=) c.1735G= (p.Ala579=) | |
9 | g.36218228C>G | CA373425050 | CLTA,GNE | c.1981G>C (p.Ala661Pro) c.1711G>C (p.Ala571Pro) c.1888G>C (p.Ala630Pro) c.1666G>C (p.Ala556Pro) c.485+14049C>G (n.485+14049C>G) c.1558G>C (p.Ala520Pro) c.1873G>C (p.Ala625Pro) c.1828G>C (p.Ala610Pro) c.1735G>C (p.Ala579Pro) | |
9 | g.36218228C>T | CA373425049 | CLTA,GNE | c.1981G>A (p.Ala661Thr) c.1711G>A (p.Ala571Thr) c.1888G>A (p.Ala630Thr) c.1666G>A (p.Ala556Thr) c.485+14049C>T (n.485+14049C>T) c.1558G>A (p.Ala520Thr) c.1873G>A (p.Ala625Thr) c.1828G>A (p.Ala610Thr) c.1735G>A (p.Ala579Thr) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36218229T>A | CA373425052 | CLTA,GNE | c.1980A>T (p.Gln660His) c.1710A>T (p.Gln570His) c.1887A>T (p.Gln629His) c.1665A>T (p.Gln555His) c.485+14050T>A (n.485+14050T>A) c.1557A>T (p.Gln519His) c.1872A>T (p.Gln624His) c.1827A>T (p.Gln609His) c.1734A>T (p.Gln578His) | |
9 | g.36218229T>C | CA464494815 | CLTA,GNE | c.1980A>G (p.Gln660=) c.1710A>G (p.Gln570=) c.1887A>G (p.Gln629=) c.1665A>G (p.Gln555=) c.485+14050T>C (n.485+14050T>C) c.1557A>G (p.Gln519=) c.1872A>G (p.Gln624=) c.1827A>G (p.Gln609=) c.1734A>G (p.Gln578=) | |
9 | g.36218229T>G | CA373425053 | CLTA,GNE | c.1980A>C (p.Gln660His) c.1710A>C (p.Gln570His) c.1887A>C (p.Gln629His) c.1665A>C (p.Gln555His) c.485+14050T>G (n.485+14050T>G) c.1557A>C (p.Gln519His) c.1872A>C (p.Gln624His) c.1827A>C (p.Gln609His) c.1734A>C (p.Gln578His) | |
9 | g.36218230del | CA2695206251 | CLTA,GNE | c.1980del (p.Ala661LeufsTer13) c.1710del (p.Ala571LeufsTer13) c.1887del (p.Ala630LeufsTer13) c.1665del (p.Ala556LeufsTer13) c.485+14051del (n.485+14051del) c.1557del (p.Ala520LeufsTer13) c.1872del (p.Ala625LeufsTer13) c.1827del (p.Ala610LeufsTer13) c.1734del (p.Ala579LeufsTer13) | |
9 | g.36218230T>A | CA373425056 | CLTA,GNE | c.1979A>T (p.Gln660Leu) c.1709A>T (p.Gln570Leu) c.1886A>T (p.Gln629Leu) c.1664A>T (p.Gln555Leu) c.485+14051T>A (n.485+14051T>A) c.1556A>T (p.Gln519Leu) c.1871A>T (p.Gln624Leu) c.1826A>T (p.Gln609Leu) c.1733A>T (p.Gln578Leu) | |
9 | g.36218230T>C | CA373425057 | CLTA,GNE | c.1979A>G (p.Gln660Arg) c.1709A>G (p.Gln570Arg) c.1886A>G (p.Gln629Arg) c.1664A>G (p.Gln555Arg) c.485+14051T>C (n.485+14051T>C) c.1556A>G (p.Gln519Arg) c.1871A>G (p.Gln624Arg) c.1826A>G (p.Gln609Arg) c.1733A>G (p.Gln578Arg) | |
9 | g.36218230T>G | CA373425059 | CLTA,GNE | c.1979A>C (p.Gln660Pro) c.1709A>C (p.Gln570Pro) c.1886A>C (p.Gln629Pro) c.1664A>C (p.Gln555Pro) c.485+14051T>G (n.485+14051T>G) c.1556A>C (p.Gln519Pro) c.1871A>C (p.Gln624Pro) c.1826A>C (p.Gln609Pro) c.1733A>C (p.Gln578Pro) | |
9 | g.36218231G>A | CA373425060 | CLTA,GNE | c.1978C>T (p.Gln660Ter) c.1708C>T (p.Gln570Ter) c.1885C>T (p.Gln629Ter) c.1663C>T (p.Gln555Ter) c.485+14052G>A (n.485+14052G>A) c.1555C>T (p.Gln519Ter) c.1870C>T (p.Gln624Ter) c.1825C>T (p.Gln609Ter) c.1732C>T (p.Gln578Ter) | ClinVar |
9 | g.36218231G>C | CA373425062 | CLTA,GNE | c.1978C>G (p.Gln660Glu) c.1708C>G (p.Gln570Glu) c.1885C>G (p.Gln629Glu) c.1663C>G (p.Gln555Glu) c.485+14052G>C (n.485+14052G>C) c.1555C>G (p.Gln519Glu) c.1870C>G (p.Gln624Glu) c.1825C>G (p.Gln609Glu) c.1732C>G (p.Gln578Glu) | gnomAD v4 |
9 | g.36218231G>T | CA373425064 | CLTA,GNE | c.1978C>A (p.Gln660Lys) c.1708C>A (p.Gln570Lys) c.1885C>A (p.Gln629Lys) c.1663C>A (p.Gln555Lys) c.485+14052G>T (n.485+14052G>T) c.1555C>A (p.Gln519Lys) c.1870C>A (p.Gln624Lys) c.1825C>A (p.Gln609Lys) c.1732C>A (p.Gln578Lys) | |
9 | g.36218232G>A | CA464494816 | CLTA,GNE | c.1977C>T (p.Ile659=) c.1707C>T (p.Ile569=) c.1884C>T (p.Ile628=) c.1662C>T (p.Ile554=) c.485+14053G>A (n.485+14053G>A) c.1554C>T (p.Ile518=) c.1869C>T (p.Ile623=) c.1824C>T (p.Ile608=) c.1731C>T (p.Ile577=) | |
9 | g.36218232G>C | CA5056398 | CLTA,GNE | c.1977C>G (p.Ile659Met) c.1707C>G (p.Ile569Met) c.1884C>G (p.Ile628Met) c.1662C>G (p.Ile554Met) c.485+14053G>C (n.485+14053G>C) c.1554C>G (p.Ile518Met) c.1869C>G (p.Ile623Met) c.1824C>G (p.Ile608Met) c.1731C>G (p.Ile577Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36218232G= | CA1846325431 | CLTA,GNE | c.1977C= (p.Ile659=) c.1707C= (p.Ile569=) c.1884C= (p.Ile628=) c.1662C= (p.Ile554=) c.485+14053G= (n.485+14053G=) c.1554C= (p.Ile518=) c.1869C= (p.Ile623=) c.1824C= (p.Ile608=) c.1731C= (p.Ile577=) | |
9 | g.36218232G>T | CA464494817 | CLTA,GNE | c.1977C>A (p.Ile659=) c.1707C>A (p.Ile569=) c.1884C>A (p.Ile628=) c.1662C>A (p.Ile554=) c.485+14053G>T (n.485+14053G>T) c.1554C>A (p.Ile518=) c.1869C>A (p.Ile623=) c.1824C>A (p.Ile608=) c.1731C>A (p.Ile577=) | |
9 | g.36218233A>C | CA373425070 | CLTA,GNE | c.1976T>G (p.Ile659Ser) c.1706T>G (p.Ile569Ser) c.1883T>G (p.Ile628Ser) c.1661T>G (p.Ile554Ser) c.485+14054A>C (n.485+14054A>C) c.1553T>G (p.Ile518Ser) c.1868T>G (p.Ile623Ser) c.1823T>G (p.Ile608Ser) c.1730T>G (p.Ile577Ser) | |
9 | g.36218233A>G | CA373425068 | CLTA,GNE | c.1976T>C (p.Ile659Thr) c.1706T>C (p.Ile569Thr) c.1883T>C (p.Ile628Thr) c.1661T>C (p.Ile554Thr) c.485+14054A>G (n.485+14054A>G) c.1553T>C (p.Ile518Thr) c.1868T>C (p.Ile623Thr) c.1823T>C (p.Ile608Thr) c.1730T>C (p.Ile577Thr) | |
9 | g.36218233A>T | CA373425067 | CLTA,GNE | c.1976T>A (p.Ile659Asn) c.1706T>A (p.Ile569Asn) c.1883T>A (p.Ile628Asn) c.1661T>A (p.Ile554Asn) c.485+14054A>T (n.485+14054A>T) c.1553T>A (p.Ile518Asn) c.1868T>A (p.Ile623Asn) c.1823T>A (p.Ile608Asn) c.1730T>A (p.Ile577Asn) | |
9 | g.36218234T>A | CA373425072 | CLTA,GNE | c.1975A>T (p.Ile659Phe) c.1705A>T (p.Ile569Phe) c.1882A>T (p.Ile628Phe) c.1660A>T (p.Ile554Phe) c.485+14055T>A (n.485+14055T>A) c.1552A>T (p.Ile518Phe) c.1867A>T (p.Ile623Phe) c.1822A>T (p.Ile608Phe) c.1729A>T (p.Ile577Phe) | dbSNP |
9 | g.36218234T>C | CA373425075 | CLTA,GNE | c.1975A>G (p.Ile659Val) c.1705A>G (p.Ile569Val) c.1882A>G (p.Ile628Val) c.1660A>G (p.Ile554Val) c.485+14055T>C (n.485+14055T>C) c.1552A>G (p.Ile518Val) c.1867A>G (p.Ile623Val) c.1822A>G (p.Ile608Val) c.1729A>G (p.Ile577Val) | |
9 | g.36218234T>G | CA373425073 | CLTA,GNE | c.1975A>C (p.Ile659Leu) c.1705A>C (p.Ile569Leu) c.1882A>C (p.Ile628Leu) c.1660A>C (p.Ile554Leu) c.485+14055T>G (n.485+14055T>G) c.1552A>C (p.Ile518Leu) c.1867A>C (p.Ile623Leu) c.1822A>C (p.Ile608Leu) c.1729A>C (p.Ile577Leu) | gnomAD v4 |
9 | g.36218234T= | CA1846325439 | CLTA,GNE | c.1975A= (p.Ile659=) c.1705A= (p.Ile569=) c.1882A= (p.Ile628=) c.1660A= (p.Ile554=) c.485+14055T= (n.485+14055T=) c.1552A= (p.Ile518=) c.1867A= (p.Ile623=) c.1822A= (p.Ile608=) c.1729A= (p.Ile577=) | |
9 | g.36218235G>A | CA464494818 | CLTA,GNE | c.1974C>T (p.Leu658=) c.1704C>T (p.Leu568=) c.1881C>T (p.Leu627=) c.1659C>T (p.Leu553=) c.485+14056G>A (n.485+14056G>A) c.1551C>T (p.Leu517=) c.1866C>T (p.Leu622=) c.1821C>T (p.Leu607=) c.1728C>T (p.Leu576=) | ClinVar |
9 | g.36218235G>C | CA464494819 | CLTA,GNE | c.1974C>G (p.Leu658=) c.1704C>G (p.Leu568=) c.1881C>G (p.Leu627=) c.1659C>G (p.Leu553=) c.485+14056G>C (n.485+14056G>C) c.1551C>G (p.Leu517=) c.1866C>G (p.Leu622=) c.1821C>G (p.Leu607=) c.1728C>G (p.Leu576=) | |
9 | g.36218235G>T | CA464494820 | CLTA,GNE | c.1974C>A (p.Leu658=) c.1704C>A (p.Leu568=) c.1881C>A (p.Leu627=) c.1659C>A (p.Leu553=) c.485+14056G>T (n.485+14056G>T) c.1551C>A (p.Leu517=) c.1866C>A (p.Leu622=) c.1821C>A (p.Leu607=) c.1728C>A (p.Leu576=) | |
9 | g.36218236A>C | CA373425077 | CLTA,GNE | c.1973T>G (p.Leu658Arg) c.1703T>G (p.Leu568Arg) c.1880T>G (p.Leu627Arg) c.1658T>G (p.Leu553Arg) c.485+14057A>C (n.485+14057A>C) c.1550T>G (p.Leu517Arg) c.1865T>G (p.Leu622Arg) c.1820T>G (p.Leu607Arg) c.1727T>G (p.Leu576Arg) | |
9 | g.36218236A>G | CA373425079 | CLTA,GNE | c.1973T>C (p.Leu658Pro) c.1703T>C (p.Leu568Pro) c.1880T>C (p.Leu627Pro) c.1658T>C (p.Leu553Pro) c.485+14057A>G (n.485+14057A>G) c.1550T>C (p.Leu517Pro) c.1865T>C (p.Leu622Pro) c.1820T>C (p.Leu607Pro) c.1727T>C (p.Leu576Pro) | |
9 | g.36218236A>T | CA373425080 | CLTA,GNE | c.1973T>A (p.Leu658His) c.1703T>A (p.Leu568His) c.1880T>A (p.Leu627His) c.1658T>A (p.Leu553His) c.485+14057A>T (n.485+14057A>T) c.1550T>A (p.Leu517His) c.1865T>A (p.Leu622His) c.1820T>A (p.Leu607His) c.1727T>A (p.Leu576His) | |
9 | g.36218237G>A | CA373425082 | CLTA,GNE | c.1972C>T (p.Leu658Phe) c.1702C>T (p.Leu568Phe) c.1879C>T (p.Leu627Phe) c.1657C>T (p.Leu553Phe) c.485+14058G>A (n.485+14058G>A) c.1549C>T (p.Leu517Phe) c.1864C>T (p.Leu622Phe) c.1819C>T (p.Leu607Phe) c.1726C>T (p.Leu576Phe) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36218237G>C | CA373425084 | CLTA,GNE | c.1972C>G (p.Leu658Val) c.1702C>G (p.Leu568Val) c.1879C>G (p.Leu627Val) c.1657C>G (p.Leu553Val) c.485+14058G>C (n.485+14058G>C) c.1549C>G (p.Leu517Val) c.1864C>G (p.Leu622Val) c.1819C>G (p.Leu607Val) c.1726C>G (p.Leu576Val) | |
9 | g.36218237G= | CA1846325448 | CLTA,GNE | c.1972C= (p.Leu658=) c.1702C= (p.Leu568=) c.1879C= (p.Leu627=) c.1657C= (p.Leu553=) c.485+14058G= (n.485+14058G=) c.1549C= (p.Leu517=) c.1864C= (p.Leu622=) c.1819C= (p.Leu607=) c.1726C= (p.Leu576=) | |
9 | g.36218237G>T | CA373425086 | CLTA,GNE | c.1972C>A (p.Leu658Ile) c.1702C>A (p.Leu568Ile) c.1879C>A (p.Leu627Ile) c.1657C>A (p.Leu553Ile) c.485+14058G>T (n.485+14058G>T) c.1549C>A (p.Leu517Ile) c.1864C>A (p.Leu622Ile) c.1819C>A (p.Leu607Ile) c.1726C>A (p.Leu576Ile) | |
9 | g.36218238A= | CA1846325453 | CLTA,GNE | c.1971T= (p.His657=) c.1701T= (p.His567=) c.1878T= (p.His626=) c.1656T= (p.His552=) c.485+14059A= (n.485+14059A=) c.1548T= (p.His516=) c.1863T= (p.His621=) c.1818T= (p.His606=) c.1725T= (p.His575=) | |
9 | g.36218238A>C | CA373425088 | CLTA,GNE | c.1971T>G (p.His657Gln) c.1701T>G (p.His567Gln) c.1878T>G (p.His626Gln) c.1656T>G (p.His552Gln) c.485+14059A>C (n.485+14059A>C) c.1548T>G (p.His516Gln) c.1863T>G (p.His621Gln) c.1818T>G (p.His606Gln) c.1725T>G (p.His575Gln) | |
9 | g.36218238A>G | CA464494821 | CLTA,GNE | c.1971T>C (p.His657=) c.1701T>C (p.His567=) c.1878T>C (p.His626=) c.1656T>C (p.His552=) c.485+14059A>G (n.485+14059A>G) c.1548T>C (p.His516=) c.1863T>C (p.His621=) c.1818T>C (p.His606=) c.1725T>C (p.His575=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36218238A>T | CA373425090 | CLTA,GNE | c.1971T>A (p.His657Gln) c.1701T>A (p.His567Gln) c.1878T>A (p.His626Gln) c.1656T>A (p.His552Gln) c.485+14059A>T (n.485+14059A>T) c.1548T>A (p.His516Gln) c.1863T>A (p.His621Gln) c.1818T>A (p.His606Gln) c.1725T>A (p.His575Gln) | |
9 | g.36218239T>A | CA373425092 | CLTA,GNE | c.1970A>T (p.His657Leu) c.1700A>T (p.His567Leu) c.1877A>T (p.His626Leu) c.1655A>T (p.His552Leu) c.485+14060T>A (n.485+14060T>A) c.1547A>T (p.His516Leu) c.1862A>T (p.His621Leu) c.1817A>T (p.His606Leu) c.1724A>T (p.His575Leu) | |
9 | g.36218239T>C | CA373425093 | CLTA,GNE | c.1970A>G (p.His657Arg) c.1700A>G (p.His567Arg) c.1877A>G (p.His626Arg) c.1655A>G (p.His552Arg) c.485+14060T>C (n.485+14060T>C) c.1547A>G (p.His516Arg) c.1862A>G (p.His621Arg) c.1817A>G (p.His606Arg) c.1724A>G (p.His575Arg) | ClinVar gnomAD v4 |
9 | g.36218239T>G | CA373425095 | CLTA,GNE | c.1970A>C (p.His657Pro) c.1700A>C (p.His567Pro) c.1877A>C (p.His626Pro) c.1655A>C (p.His552Pro) c.485+14060T>G (n.485+14060T>G) c.1547A>C (p.His516Pro) c.1862A>C (p.His621Pro) c.1817A>C (p.His606Pro) c.1724A>C (p.His575Pro) | gnomAD v4 |
9 | g.36218239_36218240delinsTG | CA1846325461 | CLTA,GNE | c.1969_1970delinsCA (p.His657=) c.1699_1700delinsCA (p.His567=) c.1876_1877delinsCA (p.His626=) c.1654_1655delinsCA (p.His552=) c.485+14060_485+14061delinsTG (n.485+14060_485+14061delinsTG) c.1546_1547delinsCA (p.His516=) c.1861_1862delinsCA (p.His621=) c.1816_1817delinsCA (p.His606=) c.1723_1724delinsCA (p.His575=) | |
9 | g.36218240G>A | CA373425101 | CLTA,GNE | c.1969C>T (p.His657Tyr) c.1699C>T (p.His567Tyr) c.1876C>T (p.His626Tyr) c.1654C>T (p.His552Tyr) c.485+14061G>A (n.485+14061G>A) c.1546C>T (p.His516Tyr) c.1861C>T (p.His621Tyr) c.1816C>T (p.His606Tyr) c.1723C>T (p.His575Tyr) | gnomAD v4 |
9 | g.36218240G>C | CA373425099 | CLTA,GNE | c.1969C>G (p.His657Asp) c.1699C>G (p.His567Asp) c.1876C>G (p.His626Asp) c.1654C>G (p.His552Asp) c.485+14061G>C (n.485+14061G>C) c.1546C>G (p.His516Asp) c.1861C>G (p.His621Asp) c.1816C>G (p.His606Asp) c.1723C>G (p.His575Asp) | |
9 | g.36218240G>T | CA373425098 | CLTA,GNE | c.1969C>A (p.His657Asn) c.1699C>A (p.His567Asn) c.1876C>A (p.His626Asn) c.1654C>A (p.His552Asn) c.485+14061G>T (n.485+14061G>T) c.1546C>A (p.His516Asn) c.1861C>A (p.His621Asn) c.1816C>A (p.His606Asn) c.1723C>A (p.His575Asn) | |
9 | g.36218241del | CA5056399 | CLTA,GNE | c.1969del (p.His657IlefsTer17) c.1699del (p.His567IlefsTer17) c.1876del (p.His626IlefsTer17) c.1654del (p.His552IlefsTer17) c.485+14062del (n.485+14062del) c.1546del (p.His516IlefsTer17) c.1861del (p.His621IlefsTer17) c.1816del (p.His606IlefsTer17) c.1723del (p.His575IlefsTer17) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36218241G>A | CA464494822 | CLTA,GNE | c.1968C>T (p.Leu656=) c.1698C>T (p.Leu566=) c.1875C>T (p.Leu625=) c.1653C>T (p.Leu551=) c.485+14062G>A (n.485+14062G>A) c.1545C>T (p.Leu515=) c.1860C>T (p.Leu620=) c.1815C>T (p.Leu605=) c.1722C>T (p.Leu574=) | |
9 | g.36218241G>C | CA464494823 | CLTA,GNE | c.1968C>G (p.Leu656=) c.1698C>G (p.Leu566=) c.1875C>G (p.Leu625=) c.1653C>G (p.Leu551=) c.485+14062G>C (n.485+14062G>C) c.1545C>G (p.Leu515=) c.1860C>G (p.Leu620=) c.1815C>G (p.Leu605=) c.1722C>G (p.Leu574=) | |
9 | g.36218241G>T | CA464494824 | CLTA,GNE | c.1968C>A (p.Leu656=) c.1698C>A (p.Leu566=) c.1875C>A (p.Leu625=) c.1653C>A (p.Leu551=) c.485+14062G>T (n.485+14062G>T) c.1545C>A (p.Leu515=) c.1860C>A (p.Leu620=) c.1815C>A (p.Leu605=) c.1722C>A (p.Leu574=) | |
9 | g.36218242A= | CA1846325465 | CLTA,GNE | c.1967T= (p.Leu656=) c.1697T= (p.Leu566=) c.1874T= (p.Leu625=) c.1652T= (p.Leu551=) c.485+14063A= (n.485+14063A=) c.1544T= (p.Leu515=) c.1859T= (p.Leu620=) c.1814T= (p.Leu605=) c.1721T= (p.Leu574=) | |
9 | g.36218242A>C | CA373425103 | CLTA,GNE | c.1967T>G (p.Leu656Arg) c.1697T>G (p.Leu566Arg) c.1874T>G (p.Leu625Arg) c.1652T>G (p.Leu551Arg) c.485+14063A>C (n.485+14063A>C) c.1544T>G (p.Leu515Arg) c.1859T>G (p.Leu620Arg) c.1814T>G (p.Leu605Arg) c.1721T>G (p.Leu574Arg) | |
9 | g.36218242A>G | CA373425104 | CLTA,GNE | c.1967T>C (p.Leu656Pro) c.1697T>C (p.Leu566Pro) c.1874T>C (p.Leu625Pro) c.1652T>C (p.Leu551Pro) c.485+14063A>G (n.485+14063A>G) c.1544T>C (p.Leu515Pro) c.1859T>C (p.Leu620Pro) c.1814T>C (p.Leu605Pro) c.1721T>C (p.Leu574Pro) | |
9 | g.36218242A>T | CA5056400 | CLTA,GNE | c.1967T>A (p.Leu656His) c.1697T>A (p.Leu566His) c.1874T>A (p.Leu625His) c.1652T>A (p.Leu551His) c.485+14063A>T (n.485+14063A>T) c.1544T>A (p.Leu515His) c.1859T>A (p.Leu620His) c.1814T>A (p.Leu605His) c.1721T>A (p.Leu574His) | dbSNP ExAC gnomAD v2 |
9 | g.36218243G>A | CA373425105 | CLTA,GNE | c.1966C>T (p.Leu656Phe) c.1696C>T (p.Leu566Phe) c.1873C>T (p.Leu625Phe) c.1651C>T (p.Leu551Phe) c.485+14064G>A (n.485+14064G>A) c.1543C>T (p.Leu515Phe) c.1858C>T (p.Leu620Phe) c.1813C>T (p.Leu605Phe) c.1720C>T (p.Leu574Phe) | |
9 | g.36218243G>C | CA373425106 | CLTA,GNE | c.1966C>G (p.Leu656Val) c.1696C>G (p.Leu566Val) c.1873C>G (p.Leu625Val) c.1651C>G (p.Leu551Val) c.485+14064G>C (n.485+14064G>C) c.1543C>G (p.Leu515Val) c.1858C>G (p.Leu620Val) c.1813C>G (p.Leu605Val) c.1720C>G (p.Leu574Val) | |
9 | g.36218243G>T | CA373425107 | CLTA,GNE | c.1966C>A (p.Leu656Ile) c.1696C>A (p.Leu566Ile) c.1873C>A (p.Leu625Ile) c.1651C>A (p.Leu551Ile) c.485+14064G>T (n.485+14064G>T) c.1543C>A (p.Leu515Ile) c.1858C>A (p.Leu620Ile) c.1813C>A (p.Leu605Ile) c.1720C>A (p.Leu574Ile) | |
9 | g.36218243_36218258delinsGCGCACCCACAGCCTC | CA1846325470 | CLTA,GNE | c.1951_1966delinsGAGGCTGTGGGTGCGC (p.Glu651=) c.1681_1696delinsGAGGCTGTGGGTGCGC (p.Glu561=) c.1858_1873delinsGAGGCTGTGGGTGCGC (p.Glu620=) c.1636_1651delinsGAGGCTGTGGGTGCGC (p.Glu546=) c.485+14064_485+14079delinsGCGCACCCACAGCCTC (n.485+14064_485+14079delinsGCGCACCCACAGCCTC) c.1528_1543delinsGAGGCTGTGGGTGCGC (p.Glu510=) c.1843_1858delinsGAGGCTGTGGGTGCGC (p.Glu615=) c.1798_1813delinsGAGGCTGTGGGTGCGC (p.Glu600=) c.1705_1720delinsGAGGCTGTGGGTGCGC (p.Glu569=) | |
9 | g.36218244C>A | CA464494825 | CLTA,GNE | c.1965G>T (p.Ala655=) c.1695G>T (p.Ala565=) c.1872G>T (p.Ala624=) c.1650G>T (p.Ala550=) c.485+14065C>A (n.485+14065C>A) c.1542G>T (p.Ala514=) c.1857G>T (p.Ala619=) c.1812G>T (p.Ala604=) c.1719G>T (p.Ala573=) | ClinVar |
9 | g.36218244C= | CA1846325480 | CLTA,GNE | c.1965G= (p.Ala655=) c.1695G= (p.Ala565=) c.1872G= (p.Ala624=) c.1650G= (p.Ala550=) c.485+14065C= (n.485+14065C=) c.1542G= (p.Ala514=) c.1857G= (p.Ala619=) c.1812G= (p.Ala604=) c.1719G= (p.Ala573=) | |
9 | g.36218244C>G | CA464494826 | CLTA,GNE | c.1965G>C (p.Ala655=) c.1695G>C (p.Ala565=) c.1872G>C (p.Ala624=) c.1650G>C (p.Ala550=) c.485+14065C>G (n.485+14065C>G) c.1542G>C (p.Ala514=) c.1857G>C (p.Ala619=) c.1812G>C (p.Ala604=) c.1719G>C (p.Ala573=) | dbSNP gnomAD v4 |
9 | g.36218244C>T | CA5056401 | CLTA,GNE | c.1965G>A (p.Ala655=) c.1695G>A (p.Ala565=) c.1872G>A (p.Ala624=) c.1650G>A (p.Ala550=) c.485+14065C>T (n.485+14065C>T) c.1542G>A (p.Ala514=) c.1857G>A (p.Ala619=) c.1812G>A (p.Ala604=) c.1719G>A (p.Ala573=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36218244_36218258del | CA1846325478 | CLTA,GNE | c.1951_1965del (p.Glu651_Ala655del) c.1681_1695del (p.Glu561_Ala565del) c.1858_1872del (p.Glu620_Ala624del) c.1636_1650del (p.Glu546_Ala550del) c.485+14065_485+14079del (n.485+14065_485+14079del) c.1528_1542del (p.Glu510_Ala514del) c.1843_1857del (p.Glu615_Ala619del) c.1798_1812del (p.Glu600_Ala604del) c.1705_1719del (p.Glu569_Ala573del) | dbSNP |
9 | g.36218245G>A | CA5056402 | CLTA,GNE | c.1964C>T (p.Ala655Val) c.1694C>T (p.Ala565Val) c.1871C>T (p.Ala624Val) c.1649C>T (p.Ala550Val) c.485+14066G>A (n.485+14066G>A) c.1541C>T (p.Ala514Val) c.1856C>T (p.Ala619Val) c.1811C>T (p.Ala604Val) c.1718C>T (p.Ala573Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36218245G>C | CA373425110 | CLTA,GNE | c.1964C>G (p.Ala655Gly) c.1694C>G (p.Ala565Gly) c.1871C>G (p.Ala624Gly) c.1649C>G (p.Ala550Gly) c.485+14066G>C (n.485+14066G>C) c.1541C>G (p.Ala514Gly) c.1856C>G (p.Ala619Gly) c.1811C>G (p.Ala604Gly) c.1718C>G (p.Ala573Gly) | gnomAD v4 |
9 | g.36218245G= | CA1846325488 | CLTA,GNE | c.1964C= (p.Ala655=) c.1694C= (p.Ala565=) c.1871C= (p.Ala624=) c.1649C= (p.Ala550=) c.485+14066G= (n.485+14066G=) c.1541C= (p.Ala514=) c.1856C= (p.Ala619=) c.1811C= (p.Ala604=) c.1718C= (p.Ala573=) | |
9 | g.36218245G>T | CA373425112 | CLTA,GNE | c.1964C>A (p.Ala655Glu) c.1694C>A (p.Ala565Glu) c.1871C>A (p.Ala624Glu) c.1649C>A (p.Ala550Glu) c.485+14066G>T (n.485+14066G>T) c.1541C>A (p.Ala514Glu) c.1856C>A (p.Ala619Glu) c.1811C>A (p.Ala604Glu) c.1718C>A (p.Ala573Glu) | |
9 | g.36218246C>A | CA373425117 | CLTA,GNE | c.1963G>T (p.Ala655Ser) c.1693G>T (p.Ala565Ser) c.1870G>T (p.Ala624Ser) c.1648G>T (p.Ala550Ser) c.485+14067C>A (n.485+14067C>A) c.1540G>T (p.Ala514Ser) c.1855G>T (p.Ala619Ser) c.1810G>T (p.Ala604Ser) c.1717G>T (p.Ala573Ser) | |
9 | g.36218246C>G | CA373425116 | CLTA,GNE | c.1963G>C (p.Ala655Pro) c.1693G>C (p.Ala565Pro) c.1870G>C (p.Ala624Pro) c.1648G>C (p.Ala550Pro) c.485+14067C>G (n.485+14067C>G) c.1540G>C (p.Ala514Pro) c.1855G>C (p.Ala619Pro) c.1810G>C (p.Ala604Pro) c.1717G>C (p.Ala573Pro) | |
9 | g.36218246C>T | CA373425114 | CLTA,GNE | c.1963G>A (p.Ala655Thr) c.1693G>A (p.Ala565Thr) c.1870G>A (p.Ala624Thr) c.1648G>A (p.Ala550Thr) c.485+14067C>T (n.485+14067C>T) c.1540G>A (p.Ala514Thr) c.1855G>A (p.Ala619Thr) c.1810G>A (p.Ala604Thr) c.1717G>A (p.Ala573Thr) | gnomAD v4 |
9 | g.36218247A= | CA1846325499 | CLTA,GNE | c.1962T= (p.Gly654=) c.1692T= (p.Gly564=) c.1869T= (p.Gly623=) c.1647T= (p.Gly549=) c.485+14068A= (n.485+14068A=) c.1539T= (p.Gly513=) c.1854T= (p.Gly618=) c.1809T= (p.Gly603=) c.1716T= (p.Gly572=) | |
9 | g.36218247A>C | CA464494829 | CLTA,GNE | c.1962T>G (p.Gly654=) c.1692T>G (p.Gly564=) c.1869T>G (p.Gly623=) c.1647T>G (p.Gly549=) c.485+14068A>C (n.485+14068A>C) c.1539T>G (p.Gly513=) c.1854T>G (p.Gly618=) c.1809T>G (p.Gly603=) c.1716T>G (p.Gly572=) | dbSNP |
9 | g.36218247A>G | CA464494828 | CLTA,GNE | c.1962T>C (p.Gly654=) c.1692T>C (p.Gly564=) c.1869T>C (p.Gly623=) c.1647T>C (p.Gly549=) c.485+14068A>G (n.485+14068A>G) c.1539T>C (p.Gly513=) c.1854T>C (p.Gly618=) c.1809T>C (p.Gly603=) c.1716T>C (p.Gly572=) | |
9 | g.36218247A>T | CA464494827 | CLTA,GNE | c.1962T>A (p.Gly654=) c.1692T>A (p.Gly564=) c.1869T>A (p.Gly623=) c.1647T>A (p.Gly549=) c.485+14068A>T (n.485+14068A>T) c.1539T>A (p.Gly513=) c.1854T>A (p.Gly618=) c.1809T>A (p.Gly603=) c.1716T>A (p.Gly572=) | |
9 | g.36218248C>A | CA373425119 | CLTA,GNE | c.1961G>T (p.Gly654Val) c.1691G>T (p.Gly564Val) c.1868G>T (p.Gly623Val) c.1646G>T (p.Gly549Val) c.485+14069C>A (n.485+14069C>A) c.1538G>T (p.Gly513Val) c.1853G>T (p.Gly618Val) c.1808G>T (p.Gly603Val) c.1715G>T (p.Gly572Val) | |
9 | g.36218248C>G | CA373425120 | CLTA,GNE | c.1961G>C (p.Gly654Ala) c.1691G>C (p.Gly564Ala) c.1868G>C (p.Gly623Ala) c.1646G>C (p.Gly549Ala) c.485+14069C>G (n.485+14069C>G) c.1538G>C (p.Gly513Ala) c.1853G>C (p.Gly618Ala) c.1808G>C (p.Gly603Ala) c.1715G>C (p.Gly572Ala) | |
9 | g.36218248C>T | CA373425121 | CLTA,GNE | c.1961G>A (p.Gly654Asp) c.1691G>A (p.Gly564Asp) c.1868G>A (p.Gly623Asp) c.1646G>A (p.Gly549Asp) c.485+14069C>T (n.485+14069C>T) c.1538G>A (p.Gly513Asp) c.1853G>A (p.Gly618Asp) c.1808G>A (p.Gly603Asp) c.1715G>A (p.Gly572Asp) | |
9 | g.36218250del | CA2697557711 | CLTA,GNE | c.1961del (p.Gly654ValfsTer20) c.1691del (p.Gly564ValfsTer20) c.1868del (p.Gly623ValfsTer20) c.1646del (p.Gly549ValfsTer20) c.485+14071del (n.485+14071del) c.1538del (p.Gly513ValfsTer20) c.1853del (p.Gly618ValfsTer20) c.1808del (p.Gly603ValfsTer20) c.1715del (p.Gly572ValfsTer20) | ClinVar |
9 | g.36218249C>A | CA373425123 | CLTA,GNE | c.1960G>T (p.Gly654Cys) c.1690G>T (p.Gly564Cys) c.1867G>T (p.Gly623Cys) c.1645G>T (p.Gly549Cys) c.485+14070C>A (n.485+14070C>A) c.1537G>T (p.Gly513Cys) c.1852G>T (p.Gly618Cys) c.1807G>T (p.Gly603Cys) c.1714G>T (p.Gly572Cys) | |
9 | g.36218249C>G | CA373425124 | CLTA,GNE | c.1960G>C (p.Gly654Arg) c.1690G>C (p.Gly564Arg) c.1867G>C (p.Gly623Arg) c.1645G>C (p.Gly549Arg) c.485+14070C>G (n.485+14070C>G) c.1537G>C (p.Gly513Arg) c.1852G>C (p.Gly618Arg) c.1807G>C (p.Gly603Arg) c.1714G>C (p.Gly572Arg) | |
9 | g.36218249C>T | CA373425126 | CLTA,GNE | c.1960G>A (p.Gly654Ser) c.1690G>A (p.Gly564Ser) c.1867G>A (p.Gly623Ser) c.1645G>A (p.Gly549Ser) c.485+14070C>T (n.485+14070C>T) c.1537G>A (p.Gly513Ser) c.1852G>A (p.Gly618Ser) c.1807G>A (p.Gly603Ser) c.1714G>A (p.Gly572Ser) | |
9 | g.36218250C>A | CA464494830 | CLTA,GNE | c.1959G>T (p.Val653=) c.1689G>T (p.Val563=) c.1866G>T (p.Val622=) c.1644G>T (p.Val548=) c.485+14071C>A (n.485+14071C>A) c.1536G>T (p.Val512=) c.1851G>T (p.Val617=) c.1806G>T (p.Val602=) c.1713G>T (p.Val571=) | |
9 | g.36218250C= | CA1846325504 | CLTA,GNE | c.1959G= (p.Val653=) c.1689G= (p.Val563=) c.1866G= (p.Val622=) c.1644G= (p.Val548=) c.485+14071C= (n.485+14071C=) c.1536G= (p.Val512=) c.1851G= (p.Val617=) c.1806G= (p.Val602=) c.1713G= (p.Val571=) | |
9 | g.36218250C>G | CA464494831 | CLTA,GNE | c.1959G>C (p.Val653=) c.1689G>C (p.Val563=) c.1866G>C (p.Val622=) c.1644G>C (p.Val548=) c.485+14071C>G (n.485+14071C>G) c.1536G>C (p.Val512=) c.1851G>C (p.Val617=) c.1806G>C (p.Val602=) c.1713G>C (p.Val571=) | |
9 | g.36218250C>T | CA464494832 | CLTA,GNE | c.1959G>A (p.Val653=) c.1689G>A (p.Val563=) c.1866G>A (p.Val622=) c.1644G>A (p.Val548=) c.485+14071C>T (n.485+14071C>T) c.1536G>A (p.Val512=) c.1851G>A (p.Val617=) c.1806G>A (p.Val602=) c.1713G>A (p.Val571=) | dbSNP |
9 | g.36218251del | CA645548170 | CLTA,GNE | c.1958del (p.Val653GlyfsTer21) c.1688del (p.Val563GlyfsTer21) c.1865del (p.Val622GlyfsTer21) c.1643del (p.Val548GlyfsTer21) c.485+14072del (n.485+14072del) c.1535del (p.Val512GlyfsTer21) c.1850del (p.Val617GlyfsTer21) c.1805del (p.Val602GlyfsTer21) c.1712del (p.Val571GlyfsTer21) | COSMIC COSMIC COSMIC |
9 | g.36218251A= | CA1846325507 | CLTA,GNE | c.1958T= (p.Val653=) c.1688T= (p.Val563=) c.1865T= (p.Val622=) c.1643T= (p.Val548=) c.485+14072A= (n.485+14072A=) c.1535T= (p.Val512=) c.1850T= (p.Val617=) c.1805T= (p.Val602=) c.1712T= (p.Val571=) | |
9 | g.36218251A>C | CA5056403 | CLTA,GNE | c.1958T>G (p.Val653Gly) c.1688T>G (p.Val563Gly) c.1865T>G (p.Val622Gly) c.1643T>G (p.Val548Gly) c.485+14072A>C (n.485+14072A>C) c.1535T>G (p.Val512Gly) c.1850T>G (p.Val617Gly) c.1805T>G (p.Val602Gly) c.1712T>G (p.Val571Gly) | dbSNP ExAC |
9 | g.36218251A>G | CA373425129 | CLTA,GNE | c.1958T>C (p.Val653Ala) c.1688T>C (p.Val563Ala) c.1865T>C (p.Val622Ala) c.1643T>C (p.Val548Ala) c.485+14072A>G (n.485+14072A>G) c.1535T>C (p.Val512Ala) c.1850T>C (p.Val617Ala) c.1805T>C (p.Val602Ala) c.1712T>C (p.Val571Ala) | |
9 | g.36218251A>T | CA373425130 | CLTA,GNE | c.1958T>A (p.Val653Glu) c.1688T>A (p.Val563Glu) c.1865T>A (p.Val622Glu) c.1643T>A (p.Val548Glu) c.485+14072A>T (n.485+14072A>T) c.1535T>A (p.Val512Glu) c.1850T>A (p.Val617Glu) c.1805T>A (p.Val602Glu) c.1712T>A (p.Val571Glu) | |
9 | g.36218252C>A | CA373425133 | CLTA,GNE | c.1957G>T (p.Val653Leu) c.1687G>T (p.Val563Leu) c.1864G>T (p.Val622Leu) c.1642G>T (p.Val548Leu) c.485+14073C>A (n.485+14073C>A) c.1534G>T (p.Val512Leu) c.1849G>T (p.Val617Leu) c.1804G>T (p.Val602Leu) c.1711G>T (p.Val571Leu) | |
9 | g.36218252C>G | CA373425134 | CLTA,GNE | c.1957G>C (p.Val653Leu) c.1687G>C (p.Val563Leu) c.1864G>C (p.Val622Leu) c.1642G>C (p.Val548Leu) c.485+14073C>G (n.485+14073C>G) c.1534G>C (p.Val512Leu) c.1849G>C (p.Val617Leu) c.1804G>C (p.Val602Leu) c.1711G>C (p.Val571Leu) | |
9 | g.36218252C>T | CA373425136 | CLTA,GNE | c.1957G>A (p.Val653Met) c.1687G>A (p.Val563Met) c.1864G>A (p.Val622Met) c.1642G>A (p.Val548Met) c.485+14073C>T (n.485+14073C>T) c.1534G>A (p.Val512Met) c.1849G>A (p.Val617Met) c.1804G>A (p.Val602Met) c.1711G>A (p.Val571Met) | |
9 | g.36218253A>C | CA464494833 | CLTA,GNE | c.1956T>G (p.Ala652=) c.1686T>G (p.Ala562=) c.1863T>G (p.Ala621=) c.1641T>G (p.Ala547=) c.485+14074A>C (n.485+14074A>C) c.1533T>G (p.Ala511=) c.1848T>G (p.Ala616=) c.1803T>G (p.Ala601=) c.1710T>G (p.Ala570=) | |
9 | g.36218253A>G | CA464494835 | CLTA,GNE | c.1956T>C (p.Ala652=) c.1686T>C (p.Ala562=) c.1863T>C (p.Ala621=) c.1641T>C (p.Ala547=) c.485+14074A>G (n.485+14074A>G) c.1533T>C (p.Ala511=) c.1848T>C (p.Ala616=) c.1803T>C (p.Ala601=) c.1710T>C (p.Ala570=) | ClinVar dbSNP gnomAD v4 |
9 | g.36218253A>T | CA464494834 | CLTA,GNE | c.1956T>A (p.Ala652=) c.1686T>A (p.Ala562=) c.1863T>A (p.Ala621=) c.1641T>A (p.Ala547=) c.485+14074A>T (n.485+14074A>T) c.1533T>A (p.Ala511=) c.1848T>A (p.Ala616=) c.1803T>A (p.Ala601=) c.1710T>A (p.Ala570=) | |
9 | g.36218254G>A | CA373425141 | CLTA,GNE | c.1955C>T (p.Ala652Val) c.1685C>T (p.Ala562Val) c.1862C>T (p.Ala621Val) c.1640C>T (p.Ala547Val) c.485+14075G>A (n.485+14075G>A) c.1532C>T (p.Ala511Val) c.1847C>T (p.Ala616Val) c.1802C>T (p.Ala601Val) c.1709C>T (p.Ala570Val) | |
9 | g.36218254G>C | CA373425139 | CLTA,GNE | c.1955C>G (p.Ala652Gly) c.1685C>G (p.Ala562Gly) c.1862C>G (p.Ala621Gly) c.1640C>G (p.Ala547Gly) c.485+14075G>C (n.485+14075G>C) c.1532C>G (p.Ala511Gly) c.1847C>G (p.Ala616Gly) c.1802C>G (p.Ala601Gly) c.1709C>G (p.Ala570Gly) | |
9 | g.36218254G>T | CA373425137 | CLTA,GNE | c.1955C>A (p.Ala652Asp) c.1685C>A (p.Ala562Asp) c.1862C>A (p.Ala621Asp) c.1640C>A (p.Ala547Asp) c.485+14075G>T (n.485+14075G>T) c.1532C>A (p.Ala511Asp) c.1847C>A (p.Ala616Asp) c.1802C>A (p.Ala601Asp) c.1709C>A (p.Ala570Asp) | |
9 | g.36218255C>A | CA373425143 | CLTA,GNE | c.1954G>T (p.Ala652Ser) c.1684G>T (p.Ala562Ser) c.1861G>T (p.Ala621Ser) c.1639G>T (p.Ala547Ser) c.485+14076C>A (n.485+14076C>A) c.1531G>T (p.Ala511Ser) c.1846G>T (p.Ala616Ser) c.1801G>T (p.Ala601Ser) c.1708G>T (p.Ala570Ser) | |
9 | g.36218255C>G | CA373425144 | CLTA,GNE | c.1954G>C (p.Ala652Pro) c.1684G>C (p.Ala562Pro) c.1861G>C (p.Ala621Pro) c.1639G>C (p.Ala547Pro) c.485+14076C>G (n.485+14076C>G) c.1531G>C (p.Ala511Pro) c.1846G>C (p.Ala616Pro) c.1801G>C (p.Ala601Pro) c.1708G>C (p.Ala570Pro) | |
9 | g.36218255C>T | CA373425145 | CLTA,GNE | c.1954G>A (p.Ala652Thr) c.1684G>A (p.Ala562Thr) c.1861G>A (p.Ala621Thr) c.1639G>A (p.Ala547Thr) c.485+14076C>T (n.485+14076C>T) c.1531G>A (p.Ala511Thr) c.1846G>A (p.Ala616Thr) c.1801G>A (p.Ala601Thr) c.1708G>A (p.Ala570Thr) | |
9 | g.36218256C>A | CA373425147 | CLTA,GNE | c.1953G>T (p.Glu651Asp) c.1683G>T (p.Glu561Asp) c.1860G>T (p.Glu620Asp) c.1638G>T (p.Glu546Asp) c.485+14077C>A (n.485+14077C>A) c.1530G>T (p.Glu510Asp) c.1845G>T (p.Glu615Asp) c.1800G>T (p.Glu600Asp) c.1707G>T (p.Glu569Asp) | |
9 | g.36218256C>G | CA373425149 | CLTA,GNE | c.1953G>C (p.Glu651Asp) c.1683G>C (p.Glu561Asp) c.1860G>C (p.Glu620Asp) c.1638G>C (p.Glu546Asp) c.485+14077C>G (n.485+14077C>G) c.1530G>C (p.Glu510Asp) c.1845G>C (p.Glu615Asp) c.1800G>C (p.Glu600Asp) c.1707G>C (p.Glu569Asp) | |
9 | g.36218256C>T | CA464494836 | CLTA,GNE | c.1953G>A (p.Glu651=) c.1683G>A (p.Glu561=) c.1860G>A (p.Glu620=) c.1638G>A (p.Glu546=) c.485+14077C>T (n.485+14077C>T) c.1530G>A (p.Glu510=) c.1845G>A (p.Glu615=) c.1800G>A (p.Glu600=) c.1707G>A (p.Glu569=) | |
9 | g.36218257T>A | CA373425151 | CLTA,GNE | c.1952A>T (p.Glu651Val) c.1682A>T (p.Glu561Val) c.1859A>T (p.Glu620Val) c.1637A>T (p.Glu546Val) c.485+14078T>A (n.485+14078T>A) c.1529A>T (p.Glu510Val) c.1844A>T (p.Glu615Val) c.1799A>T (p.Glu600Val) c.1706A>T (p.Glu569Val) | |
9 | g.36218257T>C | CA373425152 | CLTA,GNE | c.1952A>G (p.Glu651Gly) c.1682A>G (p.Glu561Gly) c.1859A>G (p.Glu620Gly) c.1637A>G (p.Glu546Gly) c.485+14078T>C (n.485+14078T>C) c.1529A>G (p.Glu510Gly) c.1844A>G (p.Glu615Gly) c.1799A>G (p.Glu600Gly) c.1706A>G (p.Glu569Gly) | gnomAD v4 |
9 | g.36218257T>G | CA373425153 | CLTA,GNE | c.1952A>C (p.Glu651Ala) c.1682A>C (p.Glu561Ala) c.1859A>C (p.Glu620Ala) c.1637A>C (p.Glu546Ala) c.485+14078T>G (n.485+14078T>G) c.1529A>C (p.Glu510Ala) c.1844A>C (p.Glu615Ala) c.1799A>C (p.Glu600Ala) c.1706A>C (p.Glu569Ala) | |
9 | g.36218258C>A | CA373425155 | CLTA,GNE | c.1951G>T (p.Glu651Ter) c.1681G>T (p.Glu561Ter) c.1858G>T (p.Glu620Ter) c.1636G>T (p.Glu546Ter) c.485+14079C>A (n.485+14079C>A) c.1528G>T (p.Glu510Ter) c.1843G>T (p.Glu615Ter) c.1798G>T (p.Glu600Ter) c.1705G>T (p.Glu569Ter) | |
9 | g.36218258C>G | CA373425157 | CLTA,GNE | c.1951G>C (p.Glu651Gln) c.1681G>C (p.Glu561Gln) c.1858G>C (p.Glu620Gln) c.1636G>C (p.Glu546Gln) c.485+14079C>G (n.485+14079C>G) c.1528G>C (p.Glu510Gln) c.1843G>C (p.Glu615Gln) c.1798G>C (p.Glu600Gln) c.1705G>C (p.Glu569Gln) | |
9 | g.36218258C>T | CA373425158 | CLTA,GNE | c.1951G>A (p.Glu651Lys) c.1681G>A (p.Glu561Lys) c.1858G>A (p.Glu620Lys) c.1636G>A (p.Glu546Lys) c.485+14079C>T (n.485+14079C>T) c.1528G>A (p.Glu510Lys) c.1843G>A (p.Glu615Lys) c.1798G>A (p.Glu600Lys) c.1705G>A (p.Glu569Lys) | |
9 | g.36218259A= | CA1846325515 | CLTA,GNE | c.1950T= (p.Asp650=) c.1680T= (p.Asp560=) c.1857T= (p.Asp619=) c.1635T= (p.Asp545=) c.485+14080A= (n.485+14080A=) c.1527T= (p.Asp509=) c.1842T= (p.Asp614=) c.1797T= (p.Asp599=) c.1704T= (p.Asp568=) | |
9 | g.36218259A>C | CA373425160 | CLTA,GNE | c.1950T>G (p.Asp650Glu) c.1680T>G (p.Asp560Glu) c.1857T>G (p.Asp619Glu) c.1635T>G (p.Asp545Glu) c.485+14080A>C (n.485+14080A>C) c.1527T>G (p.Asp509Glu) c.1842T>G (p.Asp614Glu) c.1797T>G (p.Asp599Glu) c.1704T>G (p.Asp568Glu) | |
9 | g.36218259A>G | CA464494837 | CLTA,GNE | c.1950T>C (p.Asp650=) c.1680T>C (p.Asp560=) c.1857T>C (p.Asp619=) c.1635T>C (p.Asp545=) c.485+14080A>G (n.485+14080A>G) c.1527T>C (p.Asp509=) c.1842T>C (p.Asp614=) c.1797T>C (p.Asp599=) c.1704T>C (p.Asp568=) | ClinVar dbSNP |
9 | g.36218259A>T | CA373425161 | CLTA,GNE | c.1950T>A (p.Asp650Glu) c.1680T>A (p.Asp560Glu) c.1857T>A (p.Asp619Glu) c.1635T>A (p.Asp545Glu) c.485+14080A>T (n.485+14080A>T) c.1527T>A (p.Asp509Glu) c.1842T>A (p.Asp614Glu) c.1797T>A (p.Asp599Glu) c.1704T>A (p.Asp568Glu) | |
9 | g.36218260T>A | CA373425164 | CLTA,GNE | c.1949A>T (p.Asp650Val) c.1679A>T (p.Asp560Val) c.1856A>T (p.Asp619Val) c.1634A>T (p.Asp545Val) c.485+14081T>A (n.485+14081T>A) c.1526A>T (p.Asp509Val) c.1841A>T (p.Asp614Val) c.1796A>T (p.Asp599Val) c.1703A>T (p.Asp568Val) | |
9 | g.36218260T>C | CA373425165 | CLTA,GNE | c.1949A>G (p.Asp650Gly) c.1679A>G (p.Asp560Gly) c.1856A>G (p.Asp619Gly) c.1634A>G (p.Asp545Gly) c.485+14081T>C (n.485+14081T>C) c.1526A>G (p.Asp509Gly) c.1841A>G (p.Asp614Gly) c.1796A>G (p.Asp599Gly) c.1703A>G (p.Asp568Gly) | gnomAD v4 |
9 | g.36218260T>G | CA373425162 | CLTA,GNE | c.1949A>C (p.Asp650Ala) c.1679A>C (p.Asp560Ala) c.1856A>C (p.Asp619Ala) c.1634A>C (p.Asp545Ala) c.485+14081T>G (n.485+14081T>G) c.1526A>C (p.Asp509Ala) c.1841A>C (p.Asp614Ala) c.1796A>C (p.Asp599Ala) c.1703A>C (p.Asp568Ala) | |
9 | g.36218261C>A | CA373425168 | CLTA,GNE | c.1948G>T (p.Asp650Tyr) c.1678G>T (p.Asp560Tyr) c.1855G>T (p.Asp619Tyr) c.1633G>T (p.Asp545Tyr) c.485+14082C>A (n.485+14082C>A) c.1525G>T (p.Asp509Tyr) c.1840G>T (p.Asp614Tyr) c.1795G>T (p.Asp599Tyr) c.1702G>T (p.Asp568Tyr) | gnomAD v4 |
9 | g.36218261C>G | CA373425166 | CLTA,GNE | c.1948G>C (p.Asp650His) c.1678G>C (p.Asp560His) c.1855G>C (p.Asp619His) c.1633G>C (p.Asp545His) c.485+14082C>G (n.485+14082C>G) c.1525G>C (p.Asp509His) c.1840G>C (p.Asp614His) c.1795G>C (p.Asp599His) c.1702G>C (p.Asp568His) | |
9 | g.36218261C>T | CA373425169 | CLTA,GNE | c.1948G>A (p.Asp650Asn) c.1678G>A (p.Asp560Asn) c.1855G>A (p.Asp619Asn) c.1633G>A (p.Asp545Asn) c.485+14082C>T (n.485+14082C>T) c.1525G>A (p.Asp509Asn) c.1840G>A (p.Asp614Asn) c.1795G>A (p.Asp599Asn) c.1702G>A (p.Asp568Asn) | |
9 | g.36218262T>A | CA373425170 | CLTA,GNE | c.1947A>T (p.Lys649Asn) c.1677A>T (p.Lys559Asn) c.1854A>T (p.Lys618Asn) c.1632A>T (p.Lys544Asn) c.485+14083T>A (n.485+14083T>A) c.1524A>T (p.Lys508Asn) c.1839A>T (p.Lys613Asn) c.1794A>T (p.Lys598Asn) c.1701A>T (p.Lys567Asn) | gnomAD v4 |
9 | g.36218262T>C | CA464494838 | CLTA,GNE | c.1947A>G (p.Lys649=) c.1677A>G (p.Lys559=) c.1854A>G (p.Lys618=) c.1632A>G (p.Lys544=) c.485+14083T>C (n.485+14083T>C) c.1524A>G (p.Lys508=) c.1839A>G (p.Lys613=) c.1794A>G (p.Lys598=) c.1701A>G (p.Lys567=) | |
9 | g.36218262T>G | CA373425171 | CLTA,GNE | c.1947A>C (p.Lys649Asn) c.1677A>C (p.Lys559Asn) c.1854A>C (p.Lys618Asn) c.1632A>C (p.Lys544Asn) c.485+14083T>G (n.485+14083T>G) c.1524A>C (p.Lys508Asn) c.1839A>C (p.Lys613Asn) c.1794A>C (p.Lys598Asn) c.1701A>C (p.Lys567Asn) | |
9 | g.36218263T>A | CA373425172 | CLTA,GNE | c.1946A>T (p.Lys649Ile) c.1676A>T (p.Lys559Ile) c.1853A>T (p.Lys618Ile) c.1631A>T (p.Lys544Ile) c.485+14084T>A (n.485+14084T>A) c.1523A>T (p.Lys508Ile) c.1838A>T (p.Lys613Ile) c.1793A>T (p.Lys598Ile) c.1700A>T (p.Lys567Ile) | |
9 | g.36218263T>C | CA373425173 | CLTA,GNE | c.1946A>G (p.Lys649Arg) c.1676A>G (p.Lys559Arg) c.1853A>G (p.Lys618Arg) c.1631A>G (p.Lys544Arg) c.485+14084T>C (n.485+14084T>C) c.1523A>G (p.Lys508Arg) c.1838A>G (p.Lys613Arg) c.1793A>G (p.Lys598Arg) c.1700A>G (p.Lys567Arg) | |
9 | g.36218263T>G | CA373425175 | CLTA,GNE | c.1946A>C (p.Lys649Thr) c.1676A>C (p.Lys559Thr) c.1853A>C (p.Lys618Thr) c.1631A>C (p.Lys544Thr) c.485+14084T>G (n.485+14084T>G) c.1523A>C (p.Lys508Thr) c.1838A>C (p.Lys613Thr) c.1793A>C (p.Lys598Thr) c.1700A>C (p.Lys567Thr) | |
9 | g.36218264T>A | CA373425176 | CLTA,GNE | c.1945A>T (p.Lys649Ter) c.1675A>T (p.Lys559Ter) c.1852A>T (p.Lys618Ter) c.1630A>T (p.Lys544Ter) c.485+14085T>A (n.485+14085T>A) c.1522A>T (p.Lys508Ter) c.1837A>T (p.Lys613Ter) c.1792A>T (p.Lys598Ter) c.1699A>T (p.Lys567Ter) | |
9 | g.36218264T>C | CA373425177 | CLTA,GNE | c.1945A>G (p.Lys649Glu) c.1675A>G (p.Lys559Glu) c.1852A>G (p.Lys618Glu) c.1630A>G (p.Lys544Glu) c.485+14085T>C (n.485+14085T>C) c.1522A>G (p.Lys508Glu) c.1837A>G (p.Lys613Glu) c.1792A>G (p.Lys598Glu) c.1699A>G (p.Lys567Glu) | |
9 | g.36218264T>G | CA373425178 | CLTA,GNE | c.1945A>C (p.Lys649Gln) c.1675A>C (p.Lys559Gln) c.1852A>C (p.Lys618Gln) c.1630A>C (p.Lys544Gln) c.485+14085T>G (n.485+14085T>G) c.1522A>C (p.Lys508Gln) c.1837A>C (p.Lys613Gln) c.1792A>C (p.Lys598Gln) c.1699A>C (p.Lys567Gln) | |
9 | g.36218265T>A | CA464494839 | CLTA,GNE | c.1944A>T (p.Pro648=) c.1674A>T (p.Pro558=) c.1851A>T (p.Pro617=) c.1629A>T (p.Pro543=) c.485+14086T>A (n.485+14086T>A) c.1521A>T (p.Pro507=) c.1836A>T (p.Pro612=) c.1791A>T (p.Pro597=) c.1698A>T (p.Pro566=) | |
9 | g.36218265T>C | CA464494840 | CLTA,GNE | c.1944A>G (p.Pro648=) c.1674A>G (p.Pro558=) c.1851A>G (p.Pro617=) c.1629A>G (p.Pro543=) c.485+14086T>C (n.485+14086T>C) c.1521A>G (p.Pro507=) c.1836A>G (p.Pro612=) c.1791A>G (p.Pro597=) c.1698A>G (p.Pro566=) | |
9 | g.36218265T>G | CA464494842 | CLTA,GNE | c.1944A>C (p.Pro648=) c.1674A>C (p.Pro558=) c.1851A>C (p.Pro617=) c.1629A>C (p.Pro543=) c.485+14086T>G (n.485+14086T>G) c.1521A>C (p.Pro507=) c.1836A>C (p.Pro612=) c.1791A>C (p.Pro597=) c.1698A>C (p.Pro566=) | |
9 | g.36218266G>A | CA373425180 | CLTA,GNE | c.1943C>T (p.Pro648Leu) c.1673C>T (p.Pro558Leu) c.1850C>T (p.Pro617Leu) c.1628C>T (p.Pro543Leu) c.485+14087G>A (n.485+14087G>A) c.1520C>T (p.Pro507Leu) c.1835C>T (p.Pro612Leu) c.1790C>T (p.Pro597Leu) c.1697C>T (p.Pro566Leu) | |
9 | g.36218266G>C | CA373425181 | CLTA,GNE | c.1943C>G (p.Pro648Arg) c.1673C>G (p.Pro558Arg) c.1850C>G (p.Pro617Arg) c.1628C>G (p.Pro543Arg) c.485+14087G>C (n.485+14087G>C) c.1520C>G (p.Pro507Arg) c.1835C>G (p.Pro612Arg) c.1790C>G (p.Pro597Arg) c.1697C>G (p.Pro566Arg) | gnomAD v4 |
9 | g.36218266G>T | CA373425183 | CLTA,GNE | c.1943C>A (p.Pro648Gln) c.1673C>A (p.Pro558Gln) c.1850C>A (p.Pro617Gln) c.1628C>A (p.Pro543Gln) c.485+14087G>T (n.485+14087G>T) c.1520C>A (p.Pro507Gln) c.1835C>A (p.Pro612Gln) c.1790C>A (p.Pro597Gln) c.1697C>A (p.Pro566Gln) | |
9 | g.36218267G>A | CA373425187 | CLTA,GNE | c.1942C>T (p.Pro648Ser) c.1672C>T (p.Pro558Ser) c.1849C>T (p.Pro617Ser) c.1627C>T (p.Pro543Ser) c.485+14088G>A (n.485+14088G>A) c.1519C>T (p.Pro507Ser) c.1834C>T (p.Pro612Ser) c.1789C>T (p.Pro597Ser) c.1696C>T (p.Pro566Ser) | |
9 | g.36218267G>C | CA373425185 | CLTA,GNE | c.1942C>G (p.Pro648Ala) c.1672C>G (p.Pro558Ala) c.1849C>G (p.Pro617Ala) c.1627C>G (p.Pro543Ala) c.485+14088G>C (n.485+14088G>C) c.1519C>G (p.Pro507Ala) c.1834C>G (p.Pro612Ala) c.1789C>G (p.Pro597Ala) c.1696C>G (p.Pro566Ala) | |
9 | g.36218267G>T | CA373425184 | CLTA,GNE | c.1942C>A (p.Pro648Thr) c.1672C>A (p.Pro558Thr) c.1849C>A (p.Pro617Thr) c.1627C>A (p.Pro543Thr) c.485+14088G>T (n.485+14088G>T) c.1519C>A (p.Pro507Thr) c.1834C>A (p.Pro612Thr) c.1789C>A (p.Pro597Thr) c.1696C>A (p.Pro566Thr) | |
9 | g.36218268C>A | CA464494845 | CLTA,GNE | c.1941G>T (p.Val647=) c.1671G>T (p.Val557=) c.1848G>T (p.Val616=) c.1626G>T (p.Val542=) c.485+14089C>A (n.485+14089C>A) c.1518G>T (p.Val506=) c.1833G>T (p.Val611=) c.1788G>T (p.Val596=) c.1695G>T (p.Val565=) | |
9 | g.36218268C= | CA1846325525 | CLTA,GNE | c.1941G= (p.Val647=) c.1671G= (p.Val557=) c.1848G= (p.Val616=) c.1626G= (p.Val542=) c.485+14089C= (n.485+14089C=) c.1518G= (p.Val506=) c.1833G= (p.Val611=) c.1788G= (p.Val596=) c.1695G= (p.Val565=) | |
9 | g.36218268C>G | CA464494846 | CLTA,GNE | c.1941G>C (p.Val647=) c.1671G>C (p.Val557=) c.1848G>C (p.Val616=) c.1626G>C (p.Val542=) c.485+14089C>G (n.485+14089C>G) c.1518G>C (p.Val506=) c.1833G>C (p.Val611=) c.1788G>C (p.Val596=) c.1695G>C (p.Val565=) | |
9 | g.36218268C>T | CA464494847 | CLTA,GNE | c.1941G>A (p.Val647=) c.1671G>A (p.Val557=) c.1848G>A (p.Val616=) c.1626G>A (p.Val542=) c.485+14089C>T (n.485+14089C>T) c.1518G>A (p.Val506=) c.1833G>A (p.Val611=) c.1788G>A (p.Val596=) c.1695G>A (p.Val565=) | dbSNP gnomAD v2 |
9 | g.36218269A>C | CA373425188 | CLTA,GNE | c.1940T>G (p.Val647Gly) c.1670T>G (p.Val557Gly) c.1847T>G (p.Val616Gly) c.1625T>G (p.Val542Gly) c.485+14090A>C (n.485+14090A>C) c.1517T>G (p.Val506Gly) c.1832T>G (p.Val611Gly) c.1787T>G (p.Val596Gly) c.1694T>G (p.Val565Gly) | |
9 | g.36218269A>G | CA373425189 | CLTA,GNE | c.1940T>C (p.Val647Ala) c.1670T>C (p.Val557Ala) c.1847T>C (p.Val616Ala) c.1625T>C (p.Val542Ala) c.485+14090A>G (n.485+14090A>G) c.1517T>C (p.Val506Ala) c.1832T>C (p.Val611Ala) c.1787T>C (p.Val596Ala) c.1694T>C (p.Val565Ala) | |
9 | g.36218269A>T | CA373425190 | CLTA,GNE | c.1940T>A (p.Val647Glu) c.1670T>A (p.Val557Glu) c.1847T>A (p.Val616Glu) c.1625T>A (p.Val542Glu) c.485+14090A>T (n.485+14090A>T) c.1517T>A (p.Val506Glu) c.1832T>A (p.Val611Glu) c.1787T>A (p.Val596Glu) c.1694T>A (p.Val565Glu) | |
9 | g.36218270C>A | CA373425191 | CLTA,GNE | c.1939G>T (p.Val647Leu) c.1669G>T (p.Val557Leu) c.1846G>T (p.Val616Leu) c.1624G>T (p.Val542Leu) c.485+14091C>A (n.485+14091C>A) c.1516G>T (p.Val506Leu) c.1831G>T (p.Val611Leu) c.1786G>T (p.Val596Leu) c.1693G>T (p.Val565Leu) | |
9 | g.36218270C= | CA1846325530 | CLTA,GNE | c.1939G= (p.Val647=) c.1669G= (p.Val557=) c.1846G= (p.Val616=) c.1624G= (p.Val542=) c.485+14091C= (n.485+14091C=) c.1516G= (p.Val506=) c.1831G= (p.Val611=) c.1786G= (p.Val596=) c.1693G= (p.Val565=) | |
9 | g.36218270C>G | CA373425193 | CLTA,GNE | c.1939G>C (p.Val647Leu) c.1669G>C (p.Val557Leu) c.1846G>C (p.Val616Leu) c.1624G>C (p.Val542Leu) c.485+14091C>G (n.485+14091C>G) c.1516G>C (p.Val506Leu) c.1831G>C (p.Val611Leu) c.1786G>C (p.Val596Leu) c.1693G>C (p.Val565Leu) | |
9 | g.36218270C>T | CA5056404 | CLTA,GNE | c.1939G>A (p.Val647Met) c.1669G>A (p.Val557Met) c.1846G>A (p.Val616Met) c.1624G>A (p.Val542Met) c.485+14091C>T (n.485+14091C>T) c.1516G>A (p.Val506Met) c.1831G>A (p.Val611Met) c.1786G>A (p.Val596Met) c.1693G>A (p.Val565Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36218271T>A | CA464494848 | CLTA,GNE | c.1938A>T (p.Ser646=) c.1668A>T (p.Ser556=) c.1845A>T (p.Ser615=) c.1623A>T (p.Ser541=) c.485+14092T>A (n.485+14092T>A) c.1515A>T (p.Ser505=) c.1830A>T (p.Ser610=) c.1785A>T (p.Ser595=) c.1692A>T (p.Ser564=) | |
9 | g.36218271T>C | CA464494849 | CLTA,GNE | c.1938A>G (p.Ser646=) c.1668A>G (p.Ser556=) c.1845A>G (p.Ser615=) c.1623A>G (p.Ser541=) c.485+14092T>C (n.485+14092T>C) c.1515A>G (p.Ser505=) c.1830A>G (p.Ser610=) c.1785A>G (p.Ser595=) c.1692A>G (p.Ser564=) | |
9 | g.36218271T>G | CA464494850 | CLTA,GNE | c.1938A>C (p.Ser646=) c.1668A>C (p.Ser556=) c.1845A>C (p.Ser615=) c.1623A>C (p.Ser541=) c.485+14092T>G (n.485+14092T>G) c.1515A>C (p.Ser505=) c.1830A>C (p.Ser610=) c.1785A>C (p.Ser595=) c.1692A>C (p.Ser564=) | dbSNP |
9 | g.36218271T= | CA1846325536 | CLTA,GNE | c.1938A= (p.Ser646=) c.1668A= (p.Ser556=) c.1845A= (p.Ser615=) c.1623A= (p.Ser541=) c.485+14092T= (n.485+14092T=) c.1515A= (p.Ser505=) c.1830A= (p.Ser610=) c.1785A= (p.Ser595=) c.1692A= (p.Ser564=) | |
9 | g.36218272G>A | CA373425196 | CLTA,GNE | c.1937C>T (p.Ser646Leu) c.1667C>T (p.Ser556Leu) c.1844C>T (p.Ser615Leu) c.1622C>T (p.Ser541Leu) c.485+14093G>A (n.485+14093G>A) c.1514C>T (p.Ser505Leu) c.1829C>T (p.Ser610Leu) c.1784C>T (p.Ser595Leu) c.1691C>T (p.Ser564Leu) | gnomAD v4 |
9 | g.36218272G>C | CA5056405 | CLTA,GNE | c.1937C>G (p.Ser646Ter) c.1667C>G (p.Ser556Ter) c.1844C>G (p.Ser615Ter) c.1622C>G (p.Ser541Ter) c.485+14093G>C (n.485+14093G>C) c.1514C>G (p.Ser505Ter) c.1829C>G (p.Ser610Ter) c.1784C>G (p.Ser595Ter) c.1691C>G (p.Ser564Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36218272G= | CA1846325540 | CLTA,GNE | c.1937C= (p.Ser646=) c.1667C= (p.Ser556=) c.1844C= (p.Ser615=) c.1622C= (p.Ser541=) c.485+14093G= (n.485+14093G=) c.1514C= (p.Ser505=) c.1829C= (p.Ser610=) c.1784C= (p.Ser595=) c.1691C= (p.Ser564=) | |
9 | g.36218272G>T | CA373425198 | CLTA,GNE | c.1937C>A (p.Ser646Ter) c.1667C>A (p.Ser556Ter) c.1844C>A (p.Ser615Ter) c.1622C>A (p.Ser541Ter) c.485+14093G>T (n.485+14093G>T) c.1514C>A (p.Ser505Ter) c.1829C>A (p.Ser610Ter) c.1784C>A (p.Ser595Ter) c.1691C>A (p.Ser564Ter) | |
9 | g.36218273A>C | CA373425199 | CLTA,GNE | c.1936T>G (p.Ser646Ala) c.1666T>G (p.Ser556Ala) c.1843T>G (p.Ser615Ala) c.1621T>G (p.Ser541Ala) c.485+14094A>C (n.485+14094A>C) c.1513T>G (p.Ser505Ala) c.1828T>G (p.Ser610Ala) c.1783T>G (p.Ser595Ala) c.1690T>G (p.Ser564Ala) | |
9 | g.36218273A>G | CA373425200 | CLTA,GNE | c.1936T>C (p.Ser646Pro) c.1666T>C (p.Ser556Pro) c.1843T>C (p.Ser615Pro) c.1621T>C (p.Ser541Pro) c.485+14094A>G (n.485+14094A>G) c.1513T>C (p.Ser505Pro) c.1828T>C (p.Ser610Pro) c.1783T>C (p.Ser595Pro) c.1690T>C (p.Ser564Pro) | |
9 | g.36218273A>T | CA373425202 | CLTA,GNE | c.1936T>A (p.Ser646Thr) c.1666T>A (p.Ser556Thr) c.1843T>A (p.Ser615Thr) c.1621T>A (p.Ser541Thr) c.485+14094A>T (n.485+14094A>T) c.1513T>A (p.Ser505Thr) c.1828T>A (p.Ser610Thr) c.1783T>A (p.Ser595Thr) c.1690T>A (p.Ser564Thr) | |
9 | g.36218274C>A | CA373425207 | CLTA,GNE | c.1935G>T (p.Met645Ile) c.1665G>T (p.Met555Ile) c.1842G>T (p.Met614Ile) c.1620G>T (p.Met540Ile) c.485+14095C>A (n.485+14095C>A) c.1512G>T (p.Met504Ile) c.1827G>T (p.Met609Ile) c.1782G>T (p.Met594Ile) c.1689G>T (p.Met563Ile) | |
9 | g.36218274C>G | CA373425206 | CLTA,GNE | c.1935G>C (p.Met645Ile) c.1665G>C (p.Met555Ile) c.1842G>C (p.Met614Ile) c.1620G>C (p.Met540Ile) c.485+14095C>G (n.485+14095C>G) c.1512G>C (p.Met504Ile) c.1827G>C (p.Met609Ile) c.1782G>C (p.Met594Ile) c.1689G>C (p.Met563Ile) | |
9 | g.36218274C>T | CA373425204 | CLTA,GNE | c.1935G>A (p.Met645Ile) c.1665G>A (p.Met555Ile) c.1842G>A (p.Met614Ile) c.1620G>A (p.Met540Ile) c.485+14095C>T (n.485+14095C>T) c.1512G>A (p.Met504Ile) c.1827G>A (p.Met609Ile) c.1782G>A (p.Met594Ile) c.1689G>A (p.Met563Ile) | |
9 | g.36218275A>C | CA373425208 | CLTA,GNE | c.1934T>G (p.Met645Arg) c.1664T>G (p.Met555Arg) c.1841T>G (p.Met614Arg) c.1619T>G (p.Met540Arg) c.485+14096A>C (n.485+14096A>C) c.1511T>G (p.Met504Arg) c.1826T>G (p.Met609Arg) c.1781T>G (p.Met594Arg) c.1688T>G (p.Met563Arg) | |
9 | g.36218275A>G | CA373425210 | CLTA,GNE | c.1934T>C (p.Met645Thr) c.1664T>C (p.Met555Thr) c.1841T>C (p.Met614Thr) c.1619T>C (p.Met540Thr) c.485+14096A>G (n.485+14096A>G) c.1511T>C (p.Met504Thr) c.1826T>C (p.Met609Thr) c.1781T>C (p.Met594Thr) c.1688T>C (p.Met563Thr) | gnomAD v4 |
9 | g.36218275A>T | CA373425212 | CLTA,GNE | c.1934T>A (p.Met645Lys) c.1664T>A (p.Met555Lys) c.1841T>A (p.Met614Lys) c.1619T>A (p.Met540Lys) c.485+14096A>T (n.485+14096A>T) c.1511T>A (p.Met504Lys) c.1826T>A (p.Met609Lys) c.1781T>A (p.Met594Lys) c.1688T>A (p.Met563Lys) | |
9 | g.36218276T>A | CA373425214 | CLTA,GNE | c.1933A>T (p.Met645Leu) c.1663A>T (p.Met555Leu) c.1840A>T (p.Met614Leu) c.1618A>T (p.Met540Leu) c.485+14097T>A (n.485+14097T>A) c.1510A>T (p.Met504Leu) c.1825A>T (p.Met609Leu) c.1780A>T (p.Met594Leu) c.1687A>T (p.Met563Leu) | |
9 | g.36218276T>C | CA373425216 | CLTA,GNE | c.1933A>G (p.Met645Val) c.1663A>G (p.Met555Val) c.1840A>G (p.Met614Val) c.1618A>G (p.Met540Val) c.485+14097T>C (n.485+14097T>C) c.1510A>G (p.Met504Val) c.1825A>G (p.Met609Val) c.1780A>G (p.Met594Val) c.1687A>G (p.Met563Val) | |
9 | g.36218276T>G | CA373425218 | CLTA,GNE | c.1933A>C (p.Met645Leu) c.1663A>C (p.Met555Leu) c.1840A>C (p.Met614Leu) c.1618A>C (p.Met540Leu) c.485+14097T>G (n.485+14097T>G) c.1510A>C (p.Met504Leu) c.1825A>C (p.Met609Leu) c.1780A>C (p.Met594Leu) c.1687A>C (p.Met563Leu) | |
9 | g.36218277C>A | CA464494851 | CLTA,GNE | c.1932G>T (p.Gly644=) c.1662G>T (p.Gly554=) c.1839G>T (p.Gly613=) c.1617G>T (p.Gly539=) c.485+14098C>A (n.485+14098C>A) c.1509G>T (p.Gly503=) c.1824G>T (p.Gly608=) c.1779G>T (p.Gly593=) c.1686G>T (p.Gly562=) | |
9 | g.36218277C>G | CA464494852 | CLTA,GNE | c.1932G>C (p.Gly644=) c.1662G>C (p.Gly554=) c.1839G>C (p.Gly613=) c.1617G>C (p.Gly539=) c.485+14098C>G (n.485+14098C>G) c.1509G>C (p.Gly503=) c.1824G>C (p.Gly608=) c.1779G>C (p.Gly593=) c.1686G>C (p.Gly562=) | |
9 | g.36218277C>T | CA464494853 | CLTA,GNE | c.1932G>A (p.Gly644=) c.1662G>A (p.Gly554=) c.1839G>A (p.Gly613=) c.1617G>A (p.Gly539=) c.485+14098C>T (n.485+14098C>T) c.1509G>A (p.Gly503=) c.1824G>A (p.Gly608=) c.1779G>A (p.Gly593=) c.1686G>A (p.Gly562=) | ClinVar dbSNP gnomAD v4 |
9 | g.36218279del | CA2695206252 | CLTA,GNE | c.1932del (p.Met645CysfsTer29) c.1662del (p.Met555CysfsTer29) c.1839del (p.Met614CysfsTer29) c.1617del (p.Met540CysfsTer29) c.485+14100del (n.485+14100del) c.1509del (p.Met504CysfsTer29) c.1824del (p.Met609CysfsTer29) c.1779del (p.Met594CysfsTer29) c.1686del (p.Met563CysfsTer29) | |
9 | g.36218278C>A | CA373425221 | CLTA,GNE | c.1931G>T (p.Gly644Val) c.1661G>T (p.Gly554Val) c.1838G>T (p.Gly613Val) c.1616G>T (p.Gly539Val) c.485+14099C>A (n.485+14099C>A) c.1508G>T (p.Gly503Val) c.1823G>T (p.Gly608Val) c.1778G>T (p.Gly593Val) c.1685G>T (p.Gly562Val) | |
9 | g.36218278C>G | CA373425219 | CLTA,GNE | c.1931G>C (p.Gly644Ala) c.1661G>C (p.Gly554Ala) c.1838G>C (p.Gly613Ala) c.1616G>C (p.Gly539Ala) c.485+14099C>G (n.485+14099C>G) c.1508G>C (p.Gly503Ala) c.1823G>C (p.Gly608Ala) c.1778G>C (p.Gly593Ala) c.1685G>C (p.Gly562Ala) | |
9 | g.36218278C>T | CA373425220 | CLTA,GNE | c.1931G>A (p.Gly644Glu) c.1661G>A (p.Gly554Glu) c.1838G>A (p.Gly613Glu) c.1616G>A (p.Gly539Glu) c.485+14099C>T (n.485+14099C>T) c.1508G>A (p.Gly503Glu) c.1823G>A (p.Gly608Glu) c.1778G>A (p.Gly593Glu) c.1685G>A (p.Gly562Glu) | |
9 | g.36218279C>A | CA373425223 | CLTA,GNE | c.1930G>T (p.Gly644Trp) c.1660G>T (p.Gly554Trp) c.1837G>T (p.Gly613Trp) c.1615G>T (p.Gly539Trp) c.485+14100C>A (n.485+14100C>A) c.1507G>T (p.Gly503Trp) c.1822G>T (p.Gly608Trp) c.1777G>T (p.Gly593Trp) c.1684G>T (p.Gly562Trp) | gnomAD v4 |
9 | g.36218279C>G | CA373425225 | CLTA,GNE | c.1930G>C (p.Gly644Arg) c.1660G>C (p.Gly554Arg) c.1837G>C (p.Gly613Arg) c.1615G>C (p.Gly539Arg) c.485+14100C>G (n.485+14100C>G) c.1507G>C (p.Gly503Arg) c.1822G>C (p.Gly608Arg) c.1777G>C (p.Gly593Arg) c.1684G>C (p.Gly562Arg) | |
9 | g.36218279C>T | CA373425226 | CLTA,GNE | c.1930G>A (p.Gly644Arg) c.1660G>A (p.Gly554Arg) c.1837G>A (p.Gly613Arg) c.1615G>A (p.Gly539Arg) c.485+14100C>T (n.485+14100C>T) c.1507G>A (p.Gly503Arg) c.1822G>A (p.Gly608Arg) c.1777G>A (p.Gly593Arg) c.1684G>A (p.Gly562Arg) | gnomAD v4 |
9 | g.36218280T>A | CA373425228 | CLTA,GNE | c.1929A>T (p.Glu643Asp) c.1659A>T (p.Glu553Asp) c.1836A>T (p.Glu612Asp) c.1614A>T (p.Glu538Asp) c.485+14101T>A (n.485+14101T>A) c.1506A>T (p.Glu502Asp) c.1821A>T (p.Glu607Asp) c.1776A>T (p.Glu592Asp) c.1683A>T (p.Glu561Asp) | |
9 | g.36218280T>C | CA464494854 | CLTA,GNE | c.1929A>G (p.Glu643=) c.1659A>G (p.Glu553=) c.1836A>G (p.Glu612=) c.1614A>G (p.Glu538=) c.485+14101T>C (n.485+14101T>C) c.1506A>G (p.Glu502=) c.1821A>G (p.Glu607=) c.1776A>G (p.Glu592=) c.1683A>G (p.Glu561=) | |
9 | g.36218280T>G | CA373425230 | CLTA,GNE | c.1929A>C (p.Glu643Asp) c.1659A>C (p.Glu553Asp) c.1836A>C (p.Glu612Asp) c.1614A>C (p.Glu538Asp) c.485+14101T>G (n.485+14101T>G) c.1506A>C (p.Glu502Asp) c.1821A>C (p.Glu607Asp) c.1776A>C (p.Glu592Asp) c.1683A>C (p.Glu561Asp) | |
9 | g.36218281T>A | CA373425231 | CLTA,GNE | c.1928A>T (p.Glu643Val) c.1658A>T (p.Glu553Val) c.1835A>T (p.Glu612Val) c.1613A>T (p.Glu538Val) c.485+14102T>A (n.485+14102T>A) c.1505A>T (p.Glu502Val) c.1820A>T (p.Glu607Val) c.1775A>T (p.Glu592Val) c.1682A>T (p.Glu561Val) | |
9 | g.36218281T>C | CA373425234 | CLTA,GNE | c.1928A>G (p.Glu643Gly) c.1658A>G (p.Glu553Gly) c.1835A>G (p.Glu612Gly) c.1613A>G (p.Glu538Gly) c.485+14102T>C (n.485+14102T>C) c.1505A>G (p.Glu502Gly) c.1820A>G (p.Glu607Gly) c.1775A>G (p.Glu592Gly) c.1682A>G (p.Glu561Gly) | |
9 | g.36218281T>G | CA373425233 | CLTA,GNE | c.1928A>C (p.Glu643Ala) c.1658A>C (p.Glu553Ala) c.1835A>C (p.Glu612Ala) c.1613A>C (p.Glu538Ala) c.485+14102T>G (n.485+14102T>G) c.1505A>C (p.Glu502Ala) c.1820A>C (p.Glu607Ala) c.1775A>C (p.Glu592Ala) c.1682A>C (p.Glu561Ala) | |
9 | g.36218282C>A | CA373425236 | CLTA,GNE | c.1927G>T (p.Glu643Ter) c.1657G>T (p.Glu553Ter) c.1834G>T (p.Glu612Ter) c.1612G>T (p.Glu538Ter) c.485+14103C>A (n.485+14103C>A) c.1504G>T (p.Glu502Ter) c.1819G>T (p.Glu607Ter) c.1774G>T (p.Glu592Ter) c.1681G>T (p.Glu561Ter) | |
9 | g.36218282C>G | CA373425238 | CLTA,GNE | c.1927G>C (p.Glu643Gln) c.1657G>C (p.Glu553Gln) c.1834G>C (p.Glu612Gln) c.1612G>C (p.Glu538Gln) c.485+14103C>G (n.485+14103C>G) c.1504G>C (p.Glu502Gln) c.1819G>C (p.Glu607Gln) c.1774G>C (p.Glu592Gln) c.1681G>C (p.Glu561Gln) | |
9 | g.36218282C>T | CA373425240 | CLTA,GNE | c.1927G>A (p.Glu643Lys) c.1657G>A (p.Glu553Lys) c.1834G>A (p.Glu612Lys) c.1612G>A (p.Glu538Lys) c.485+14103C>T (n.485+14103C>T) c.1504G>A (p.Glu502Lys) c.1819G>A (p.Glu607Lys) c.1774G>A (p.Glu592Lys) c.1681G>A (p.Glu561Lys) | gnomAD v4 |
9 | g.36218283C>A | CA464494856 | CLTA,GNE | c.1926G>T (p.Val642=) c.1656G>T (p.Val552=) c.1833G>T (p.Val611=) c.1611G>T (p.Val537=) c.485+14104C>A (n.485+14104C>A) c.1503G>T (p.Val501=) c.1818G>T (p.Val606=) c.1773G>T (p.Val591=) c.1680G>T (p.Val560=) | |
9 | g.36218283C>G | CA464494857 | CLTA,GNE | c.1926G>C (p.Val642=) c.1656G>C (p.Val552=) c.1833G>C (p.Val611=) c.1611G>C (p.Val537=) c.485+14104C>G (n.485+14104C>G) c.1503G>C (p.Val501=) c.1818G>C (p.Val606=) c.1773G>C (p.Val591=) c.1680G>C (p.Val560=) | |
9 | g.36218283C>T | CA464494855 | CLTA,GNE | c.1926G>A (p.Val642=) c.1656G>A (p.Val552=) c.1833G>A (p.Val611=) c.1611G>A (p.Val537=) c.485+14104C>T (n.485+14104C>T) c.1503G>A (p.Val501=) c.1818G>A (p.Val606=) c.1773G>A (p.Val591=) c.1680G>A (p.Val560=) | ClinVar dbSNP gnomAD v4 |
9 | g.36218284A= | CA1846325544 | CLTA,GNE | c.1925T= (p.Val642=) c.1655T= (p.Val552=) c.1832T= (p.Val611=) c.1610T= (p.Val537=) c.485+14105A= (n.485+14105A=) c.1502T= (p.Val501=) c.1817T= (p.Val606=) c.1772T= (p.Val591=) c.1679T= (p.Val560=) | |
9 | g.36218284A>C | CA373425242 | CLTA,GNE | c.1925T>G (p.Val642Gly) c.1655T>G (p.Val552Gly) c.1832T>G (p.Val611Gly) c.1610T>G (p.Val537Gly) c.485+14105A>C (n.485+14105A>C) c.1502T>G (p.Val501Gly) c.1817T>G (p.Val606Gly) c.1772T>G (p.Val591Gly) c.1679T>G (p.Val560Gly) | dbSNP |
9 | g.36218284A>G | CA373425244 | CLTA,GNE | c.1925T>C (p.Val642Ala) c.1655T>C (p.Val552Ala) c.1832T>C (p.Val611Ala) c.1610T>C (p.Val537Ala) c.485+14105A>G (n.485+14105A>G) c.1502T>C (p.Val501Ala) c.1817T>C (p.Val606Ala) c.1772T>C (p.Val591Ala) c.1679T>C (p.Val560Ala) | |
9 | g.36218284A>T | CA373425245 | CLTA,GNE | c.1925T>A (p.Val642Glu) c.1655T>A (p.Val552Glu) c.1832T>A (p.Val611Glu) c.1610T>A (p.Val537Glu) c.485+14105A>T (n.485+14105A>T) c.1502T>A (p.Val501Glu) c.1817T>A (p.Val606Glu) c.1772T>A (p.Val591Glu) c.1679T>A (p.Val560Glu) | |
9 | g.36218285C>A | CA373425247 | CLTA,GNE | c.1924G>T (p.Val642Leu) c.1654G>T (p.Val552Leu) c.1831G>T (p.Val611Leu) c.1609G>T (p.Val537Leu) c.485+14106C>A (n.485+14106C>A) c.1501G>T (p.Val501Leu) c.1816G>T (p.Val606Leu) c.1771G>T (p.Val591Leu) c.1678G>T (p.Val560Leu) | |
9 | g.36218285C>G | CA373425248 | CLTA,GNE | c.1924G>C (p.Val642Leu) c.1654G>C (p.Val552Leu) c.1831G>C (p.Val611Leu) c.1609G>C (p.Val537Leu) c.485+14106C>G (n.485+14106C>G) c.1501G>C (p.Val501Leu) c.1816G>C (p.Val606Leu) c.1771G>C (p.Val591Leu) c.1678G>C (p.Val560Leu) | |
9 | g.36218285C>T | CA373425249 | CLTA,GNE | c.1924G>A (p.Val642Met) c.1654G>A (p.Val552Met) c.1831G>A (p.Val611Met) c.1609G>A (p.Val537Met) c.485+14106C>T (n.485+14106C>T) c.1501G>A (p.Val501Met) c.1816G>A (p.Val606Met) c.1771G>A (p.Val591Met) c.1678G>A (p.Val560Met) | ClinVar dbSNP gnomAD v4 |
9 | g.36218286C>A | CA373425250 | CLTA,GNE | c.1923G>T (p.Leu641Phe) c.1653G>T (p.Leu551Phe) c.1830G>T (p.Leu610Phe) c.1608G>T (p.Leu536Phe) c.485+14107C>A (n.485+14107C>A) c.1500G>T (p.Leu500Phe) c.1815G>T (p.Leu605Phe) c.1770G>T (p.Leu590Phe) c.1677G>T (p.Leu559Phe) | |
9 | g.36218286C>G | CA373425251 | CLTA,GNE | c.1923G>C (p.Leu641Phe) c.1653G>C (p.Leu551Phe) c.1830G>C (p.Leu610Phe) c.1608G>C (p.Leu536Phe) c.485+14107C>G (n.485+14107C>G) c.1500G>C (p.Leu500Phe) c.1815G>C (p.Leu605Phe) c.1770G>C (p.Leu590Phe) c.1677G>C (p.Leu559Phe) | gnomAD v4 |
9 | g.36218286C>T | CA464494858 | CLTA,GNE | c.1923G>A (p.Leu641=) c.1653G>A (p.Leu551=) c.1830G>A (p.Leu610=) c.1608G>A (p.Leu536=) c.485+14107C>T (n.485+14107C>T) c.1500G>A (p.Leu500=) c.1815G>A (p.Leu605=) c.1770G>A (p.Leu590=) c.1677G>A (p.Leu559=) | |
9 | g.36218287A>C | CA373425254 | CLTA,GNE | c.1922T>G (p.Leu641Trp) c.1652T>G (p.Leu551Trp) c.1829T>G (p.Leu610Trp) c.1607T>G (p.Leu536Trp) c.485+14108A>C (n.485+14108A>C) c.1499T>G (p.Leu500Trp) c.1814T>G (p.Leu605Trp) c.1769T>G (p.Leu590Trp) c.1676T>G (p.Leu559Trp) | |
9 | g.36218287A>G | CA373425255 | CLTA,GNE | c.1922T>C (p.Leu641Ser) c.1652T>C (p.Leu551Ser) c.1829T>C (p.Leu610Ser) c.1607T>C (p.Leu536Ser) c.485+14108A>G (n.485+14108A>G) c.1499T>C (p.Leu500Ser) c.1814T>C (p.Leu605Ser) c.1769T>C (p.Leu590Ser) c.1676T>C (p.Leu559Ser) | |
9 | g.36218287A>T | CA373425252 | CLTA,GNE | c.1922T>A (p.Leu641Ter) c.1652T>A (p.Leu551Ter) c.1829T>A (p.Leu610Ter) c.1607T>A (p.Leu536Ter) c.485+14108A>T (n.485+14108A>T) c.1499T>A (p.Leu500Ter) c.1814T>A (p.Leu605Ter) c.1769T>A (p.Leu590Ter) c.1676T>A (p.Leu559Ter) | |
9 | g.36218288A>C | CA373425258 | CLTA,GNE | c.1921T>G (p.Leu641Val) c.1651T>G (p.Leu551Val) c.1828T>G (p.Leu610Val) c.1606T>G (p.Leu536Val) c.485+14109A>C (n.485+14109A>C) c.1498T>G (p.Leu500Val) c.1813T>G (p.Leu605Val) c.1768T>G (p.Leu590Val) c.1675T>G (p.Leu559Val) | gnomAD v4 |
9 | g.36218288A>G | CA464494859 | CLTA,GNE | c.1921T>C (p.Leu641=) c.1651T>C (p.Leu551=) c.1828T>C (p.Leu610=) c.1606T>C (p.Leu536=) c.485+14109A>G (n.485+14109A>G) c.1498T>C (p.Leu500=) c.1813T>C (p.Leu605=) c.1768T>C (p.Leu590=) c.1675T>C (p.Leu559=) | ClinVar dbSNP COSMIC COSMIC COSMIC |
9 | g.36218288A>T | CA373425257 | CLTA,GNE | c.1921T>A (p.Leu641Met) c.1651T>A (p.Leu551Met) c.1828T>A (p.Leu610Met) c.1606T>A (p.Leu536Met) c.485+14109A>T (n.485+14109A>T) c.1498T>A (p.Leu500Met) c.1813T>A (p.Leu605Met) c.1768T>A (p.Leu590Met) c.1675T>A (p.Leu559Met) | |
9 | g.36218289G>A | CA464494860 | CLTA,GNE | c.1920C>T (p.Leu640=) c.1650C>T (p.Leu550=) c.1827C>T (p.Leu609=) c.1605C>T (p.Leu535=) c.485+14110G>A (n.485+14110G>A) c.1497C>T (p.Leu499=) c.1812C>T (p.Leu604=) c.1767C>T (p.Leu589=) c.1674C>T (p.Leu558=) | gnomAD v4 |
9 | g.36218289G>C | CA464494861 | CLTA,GNE | c.1920C>G (p.Leu640=) c.1650C>G (p.Leu550=) c.1827C>G (p.Leu609=) c.1605C>G (p.Leu535=) c.485+14110G>C (n.485+14110G>C) c.1497C>G (p.Leu499=) c.1812C>G (p.Leu604=) c.1767C>G (p.Leu589=) c.1674C>G (p.Leu558=) | |
9 | g.36218289G>T | CA464494862 | CLTA,GNE | c.1920C>A (p.Leu640=) c.1650C>A (p.Leu550=) c.1827C>A (p.Leu609=) c.1605C>A (p.Leu535=) c.485+14110G>T (n.485+14110G>T) c.1497C>A (p.Leu499=) c.1812C>A (p.Leu604=) c.1767C>A (p.Leu589=) c.1674C>A (p.Leu558=) | |
9 | g.36218290A>C | CA373425260 | CLTA,GNE | c.1919T>G (p.Leu640Arg) c.1649T>G (p.Leu550Arg) c.1826T>G (p.Leu609Arg) c.1604T>G (p.Leu535Arg) c.485+14111A>C (n.485+14111A>C) c.1496T>G (p.Leu499Arg) c.1811T>G (p.Leu604Arg) c.1766T>G (p.Leu589Arg) c.1673T>G (p.Leu558Arg) | |
9 | g.36218290A>G | CA373425261 | CLTA,GNE | c.1919T>C (p.Leu640Pro) c.1649T>C (p.Leu550Pro) c.1826T>C (p.Leu609Pro) c.1604T>C (p.Leu535Pro) c.485+14111A>G (n.485+14111A>G) c.1496T>C (p.Leu499Pro) c.1811T>C (p.Leu604Pro) c.1766T>C (p.Leu589Pro) c.1673T>C (p.Leu558Pro) | |
9 | g.36218290A>T | CA373425263 | CLTA,GNE | c.1919T>A (p.Leu640His) c.1649T>A (p.Leu550His) c.1826T>A (p.Leu609His) c.1604T>A (p.Leu535His) c.485+14111A>T (n.485+14111A>T) c.1496T>A (p.Leu499His) c.1811T>A (p.Leu604His) c.1766T>A (p.Leu589His) c.1673T>A (p.Leu558His) | |
9 | g.36218291G>A | CA373425266 | CLTA,GNE | c.1918C>T (p.Leu640Phe) c.1648C>T (p.Leu550Phe) c.1825C>T (p.Leu609Phe) c.1603C>T (p.Leu535Phe) c.485+14112G>A (n.485+14112G>A) c.1495C>T (p.Leu499Phe) c.1810C>T (p.Leu604Phe) c.1765C>T (p.Leu589Phe) c.1672C>T (p.Leu558Phe) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36218291G>C | CA373425267 | CLTA,GNE | c.1918C>G (p.Leu640Val) c.1648C>G (p.Leu550Val) c.1825C>G (p.Leu609Val) c.1603C>G (p.Leu535Val) c.485+14112G>C (n.485+14112G>C) c.1495C>G (p.Leu499Val) c.1810C>G (p.Leu604Val) c.1765C>G (p.Leu589Val) c.1672C>G (p.Leu558Val) | |
9 | g.36218291G= | CA1846325549 | CLTA,GNE | c.1918C= (p.Leu640=) c.1648C= (p.Leu550=) c.1825C= (p.Leu609=) c.1603C= (p.Leu535=) c.485+14112G= (n.485+14112G=) c.1495C= (p.Leu499=) c.1810C= (p.Leu604=) c.1765C= (p.Leu589=) c.1672C= (p.Leu558=) | |
9 | g.36218291G>T | CA373425269 | CLTA,GNE | c.1918C>A (p.Leu640Ile) c.1648C>A (p.Leu550Ile) c.1825C>A (p.Leu609Ile) c.1603C>A (p.Leu535Ile) c.485+14112G>T (n.485+14112G>T) c.1495C>A (p.Leu499Ile) c.1810C>A (p.Leu604Ile) c.1765C>A (p.Leu589Ile) c.1672C>A (p.Leu558Ile) | |
9 | g.36218292C>A | CA464494863 | CLTA,GNE | c.1917G>T (p.Leu639=) c.1647G>T (p.Leu549=) c.1824G>T (p.Leu608=) c.1602G>T (p.Leu534=) c.485+14113C>A (n.485+14113C>A) c.1494G>T (p.Leu498=) c.1809G>T (p.Leu603=) c.1764G>T (p.Leu588=) c.1671G>T (p.Leu557=) | |
9 | g.36218292C= | CA1846325555 | CLTA,GNE | c.1917G= (p.Leu639=) c.1647G= (p.Leu549=) c.1824G= (p.Leu608=) c.1602G= (p.Leu534=) c.485+14113C= (n.485+14113C=) c.1494G= (p.Leu498=) c.1809G= (p.Leu603=) c.1764G= (p.Leu588=) c.1671G= (p.Leu557=) | |
9 | g.36218292C>G | CA464494864 | CLTA,GNE | c.1917G>C (p.Leu639=) c.1647G>C (p.Leu549=) c.1824G>C (p.Leu608=) c.1602G>C (p.Leu534=) c.485+14113C>G (n.485+14113C>G) c.1494G>C (p.Leu498=) c.1809G>C (p.Leu603=) c.1764G>C (p.Leu588=) c.1671G>C (p.Leu557=) | |
9 | g.36218292C>T | CA464494865 | CLTA,GNE | c.1917G>A (p.Leu639=) c.1647G>A (p.Leu549=) c.1824G>A (p.Leu608=) c.1602G>A (p.Leu534=) c.485+14113C>T (n.485+14113C>T) c.1494G>A (p.Leu498=) c.1809G>A (p.Leu603=) c.1764G>A (p.Leu588=) c.1671G>A (p.Leu557=) | dbSNP gnomAD v2 gnomAD v4 |