Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7166265T>A | CA403666420 | INSR | c.1750A>T (p.Lys584Ter) n.1725A>T c.151A>T (p.Lys51Ter) c.1828A>T (p.Lys610Ter) | |
19 | g.7166265T>C | CA403666421 | INSR | c.1750A>G (p.Lys584Glu) n.1725A>G c.151A>G (p.Lys51Glu) c.1828A>G (p.Lys610Glu) | COSMIC COSMIC |
19 | g.7166265T>G | CA403666422 | INSR | c.1750A>C (p.Lys584Gln) n.1725A>C c.151A>C (p.Lys51Gln) c.1828A>C (p.Lys610Gln) | |
19 | g.7166266G>A | CA505199236 | INSR | c.1749C>T (p.Leu583=) n.1724C>T c.150C>T (p.Leu50=) c.1827C>T (p.Leu609=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7166266G>C | CA505199237 | INSR | c.1749C>G (p.Leu583=) n.1724C>G c.150C>G (p.Leu50=) c.1827C>G (p.Leu609=) | dbSNP gnomAD v4 COSMIC COSMIC |
19 | g.7166266G= | CA2320788248 | INSR | c.1749C= (p.Leu583=) n.1724C= c.150C= (p.Leu50=) c.1827C= (p.Leu609=) | |
19 | g.7166266G>T | CA505199239 | INSR | c.1749C>A (p.Leu583=) n.1724C>A c.150C>A (p.Leu50=) c.1827C>A (p.Leu609=) | |
19 | g.7166267A>C | CA403666423 | INSR | c.1748T>G (p.Leu583Arg) n.1723T>G c.149T>G (p.Leu50Arg) c.1826T>G (p.Leu609Arg) | |
19 | g.7166267A>G | CA403666424 | INSR | c.1748T>C (p.Leu583Pro) n.1723T>C c.149T>C (p.Leu50Pro) c.1826T>C (p.Leu609Pro) | |
19 | g.7166267A>T | CA403666425 | INSR | c.1748T>A (p.Leu583His) n.1723T>A c.149T>A (p.Leu50His) c.1826T>A (p.Leu609His) | |
19 | g.7166268G>A | CA403666426 | INSR | c.1747C>T (p.Leu583Phe) n.1722C>T c.148C>T (p.Leu50Phe) c.1825C>T (p.Leu609Phe) | |
19 | g.7166268G>C | CA403666428 | INSR | c.1747C>G (p.Leu583Val) n.1722C>G c.148C>G (p.Leu50Val) c.1825C>G (p.Leu609Val) | |
19 | g.7166268G>T | CA403666427 | INSR | c.1747C>A (p.Leu583Ile) n.1722C>A c.148C>A (p.Leu50Ile) c.1825C>A (p.Leu609Ile) | |
19 | g.7166269A>C | CA505199248 | INSR | c.1746T>G (p.Gly582=) n.1721T>G c.147T>G (p.Gly49=) c.1824T>G (p.Gly608=) | |
19 | g.7166269A>G | CA505199250 | INSR | c.1746T>C (p.Gly582=) n.1721T>C c.147T>C (p.Gly49=) c.1824T>C (p.Gly608=) | |
19 | g.7166269A>T | CA505199252 | INSR | c.1746T>A (p.Gly582=) n.1721T>A c.147T>A (p.Gly49=) c.1824T>A (p.Gly608=) | |
19 | g.7166270C>A | CA403666429 | INSR | c.1745G>T (p.Gly582Val) n.1720G>T c.146G>T (p.Gly49Val) c.1823G>T (p.Gly608Val) | |
19 | g.7166270C>G | CA403666430 | INSR | c.1745G>C (p.Gly582Ala) n.1720G>C c.146G>C (p.Gly49Ala) c.1823G>C (p.Gly608Ala) | |
19 | g.7166270C>T | CA403666431 | INSR | c.1745G>A (p.Gly582Asp) n.1720G>A c.146G>A (p.Gly49Asp) c.1823G>A (p.Gly608Asp) | gnomAD v4 COSMIC COSMIC |
19 | g.7166271C>A | CA403666432 | INSR | c.1744G>T (p.Gly582Cys) n.1719G>T c.145G>T (p.Gly49Cys) c.1822G>T (p.Gly608Cys) | |
19 | g.7166271C>G | CA403666433 | INSR | c.1744G>C (p.Gly582Arg) n.1719G>C c.145G>C (p.Gly49Arg) c.1822G>C (p.Gly608Arg) | |
19 | g.7166271C>T | CA403666434 | INSR | c.1744G>A (p.Gly582Ser) n.1719G>A c.145G>A (p.Gly49Ser) c.1822G>A (p.Gly608Ser) | |
19 | g.7166272C>A | CA505199265 | INSR | c.1743G>T (p.Arg581=) n.1718G>T c.144G>T (p.Arg48=) c.1821G>T (p.Arg607=) | |
19 | g.7166272C= | CA2320788249 | INSR | c.1743G= (p.Arg581=) n.1718G= c.144G= (p.Arg48=) c.1821G= (p.Arg607=) | |
19 | g.7166272C>G | CA505199262 | INSR | c.1743G>C (p.Arg581=) n.1718G>C c.144G>C (p.Arg48=) c.1821G>C (p.Arg607=) | |
19 | g.7166272C>T | CA505199264 | INSR | c.1743G>A (p.Arg581=) n.1718G>A c.144G>A (p.Arg48=) c.1821G>A (p.Arg607=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7166273C>A | CA403666435 | INSR | c.1742G>T (p.Arg581Leu) n.1717G>T c.143G>T (p.Arg48Leu) c.1820G>T (p.Arg607Leu) | |
19 | g.7166273C= | CA2320788250 | INSR | c.1742G= (p.Arg581=) n.1717G= c.143G= (p.Arg48=) c.1820G= (p.Arg607=) | |
19 | g.7166273C>G | CA403666436 | INSR | c.1742G>C (p.Arg581Pro) n.1717G>C c.143G>C (p.Arg48Pro) c.1820G>C (p.Arg607Pro) | |
19 | g.7166273C>T | CA9135759 | INSR | c.1742G>A (p.Arg581Gln) n.1717G>A c.143G>A (p.Arg48Gln) c.1820G>A (p.Arg607Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7166274G>A | CA403666437 | INSR | c.1741C>T (p.Arg581Trp) n.1716C>T c.142C>T (p.Arg48Trp) c.1819C>T (p.Arg607Trp) | ClinVar dbSNP gnomAD v4 |
19 | g.7166274G>C | CA403666438 | INSR | c.1741C>G (p.Arg581Gly) n.1716C>G c.142C>G (p.Arg48Gly) c.1819C>G (p.Arg607Gly) | |
19 | g.7166274G= | CA2320788251 | INSR | c.1741C= (p.Arg581=) n.1716C= c.142C= (p.Arg48=) c.1819C= (p.Arg607=) | |
19 | g.7166274G>T | CA505199268 | INSR | c.1741C>A (p.Arg581=) n.1716C>A c.142C>A (p.Arg48=) c.1819C>A (p.Arg607=) | |
19 | g.7166275C>A | CA403666441 | INSR | c.1740G>T (p.Met580Ile) n.1715G>T c.141G>T (p.Met47Ile) c.1818G>T (p.Met606Ile) | |
19 | g.7166275C>G | CA403666439 | INSR | c.1740G>C (p.Met580Ile) n.1715G>C c.141G>C (p.Met47Ile) c.1818G>C (p.Met606Ile) | |
19 | g.7166275C>T | CA403666440 | INSR | c.1740G>A (p.Met580Ile) n.1715G>A c.141G>A (p.Met47Ile) c.1818G>A (p.Met606Ile) | |
19 | g.7166276A>C | CA403666442 | INSR | c.1739T>G (p.Met580Arg) n.1714T>G c.140T>G (p.Met47Arg) c.1817T>G (p.Met606Arg) | |
19 | g.7166276A>G | CA403666443 | INSR | c.1739T>C (p.Met580Thr) n.1714T>C c.140T>C (p.Met47Thr) c.1817T>C (p.Met606Thr) | |
19 | g.7166276A>T | CA403666444 | INSR | c.1739T>A (p.Met580Lys) n.1714T>A c.140T>A (p.Met47Lys) c.1817T>A (p.Met606Lys) | |
19 | g.7166277T>A | CA403666445 | INSR | c.1738A>T (p.Met580Leu) n.1713A>T c.139A>T (p.Met47Leu) c.1816A>T (p.Met606Leu) | |
19 | g.7166277T>C | CA403666446 | INSR | c.1738A>G (p.Met580Val) n.1713A>G c.139A>G (p.Met47Val) c.1816A>G (p.Met606Val) | |
19 | g.7166277T>G | CA403666447 | INSR | c.1738A>C (p.Met580Leu) n.1713A>C c.139A>C (p.Met47Leu) c.1816A>C (p.Met606Leu) | |
19 | g.7166278C>A | CA505199280 | INSR | c.1737G>T (p.Leu579=) n.1712G>T c.138G>T (p.Leu46=) c.1815G>T (p.Leu605=) | gnomAD v4 |
19 | g.7166278C>G | CA505199282 | INSR | c.1737G>C (p.Leu579=) n.1712G>C c.138G>C (p.Leu46=) c.1815G>C (p.Leu605=) | |
19 | g.7166278C>T | CA505199284 | INSR | c.1737G>A (p.Leu579=) n.1712G>A c.138G>A (p.Leu46=) c.1815G>A (p.Leu605=) | |
19 | g.7166279A>C | CA403666450 | INSR | c.1736T>G (p.Leu579Arg) n.1711T>G c.137T>G (p.Leu46Arg) c.1814T>G (p.Leu605Arg) | |
19 | g.7166279A>G | CA403666448 | INSR | c.1736T>C (p.Leu579Pro) n.1711T>C c.137T>C (p.Leu46Pro) c.1814T>C (p.Leu605Pro) | |
19 | g.7166279A>T | CA403666449 | INSR | c.1736T>A (p.Leu579Gln) n.1711T>A c.137T>A (p.Leu46Gln) c.1814T>A (p.Leu605Gln) | |
19 | g.7166280G>A | CA505199289 | INSR | c.1735C>T (p.Leu579=) n.1710C>T c.136C>T (p.Leu46=) c.1813C>T (p.Leu605=) | gnomAD v4 |