Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
19 | g.7166280G>C | CA304856252 | INSR | c.1735C>G (p.Leu579Val) n.1710C>G c.136C>G (p.Leu46Val) c.1813C>G (p.Leu605Val) | dbSNP |
19 | g.7166280G= | CA2320788252 | INSR | c.1735C= (p.Leu579=) n.1710C= c.136C= (p.Leu46=) c.1813C= (p.Leu605=) | |
19 | g.7166280G>T | CA403666451 | INSR | c.1735C>A (p.Leu579Met) n.1710C>A c.136C>A (p.Leu46Met) c.1813C>A (p.Leu605Met) | |
19 | g.7166281C>A | CA403666452 | INSR | c.1734G>T (p.Trp578Cys) n.1709G>T c.135G>T (p.Trp45Cys) c.1812G>T (p.Trp604Cys) | |
19 | g.7166281C>G | CA403666453 | INSR | c.1734G>C (p.Trp578Cys) n.1709G>C c.135G>C (p.Trp45Cys) c.1812G>C (p.Trp604Cys) | |
19 | g.7166281C>T | CA403666454 | INSR | c.1734G>A (p.Trp578Ter) n.1709G>A c.135G>A (p.Trp45Ter) c.1812G>A (p.Trp604Ter) | |
19 | g.7166282C>A | CA403666457 | INSR | c.1733G>T (p.Trp578Leu) n.1708G>T c.134G>T (p.Trp45Leu) c.1811G>T (p.Trp604Leu) | |
19 | g.7166282C>G | CA403666455 | INSR | c.1733G>C (p.Trp578Ser) n.1708G>C c.134G>C (p.Trp45Ser) c.1811G>C (p.Trp604Ser) | |
19 | g.7166282C>T | CA403666456 | INSR | c.1733G>A (p.Trp578Ter) n.1708G>A c.134G>A (p.Trp45Ter) c.1811G>A (p.Trp604Ter) | |
19 | g.7166283A>C | CA403666458 | INSR | c.1732T>G (p.Trp578Gly) n.1707T>G c.133T>G (p.Trp45Gly) c.1810T>G (p.Trp604Gly) | |
19 | g.7166283A>G | CA403666459 | INSR | c.1732T>C (p.Trp578Arg) n.1707T>C c.133T>C (p.Trp45Arg) c.1810T>C (p.Trp604Arg) | |
19 | g.7166283A>T | CA403666460 | INSR | c.1732T>A (p.Trp578Arg) n.1707T>A c.133T>A (p.Trp45Arg) c.1810T>A (p.Trp604Arg) | |
19 | g.7166284C>A | CA505199305 | INSR | c.1731G>T (p.Gly577=) n.1706G>T c.132G>T (p.Gly44=) c.1809G>T (p.Gly603=) | |
19 | g.7166284C= | CA2320788253 | INSR | c.1731G= (p.Gly577=) n.1706G= c.132G= (p.Gly44=) c.1809G= (p.Gly603=) | |
19 | g.7166284C>G | CA505199306 | INSR | c.1731G>C (p.Gly577=) n.1706G>C c.132G>C (p.Gly44=) c.1809G>C (p.Gly603=) | |
19 | g.7166284C>T | CA9135760 | INSR | c.1731G>A (p.Gly577=) n.1706G>A c.132G>A (p.Gly44=) c.1809G>A (p.Gly603=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7166285C>A | CA403666461 | INSR | c.1730G>T (p.Gly577Val) n.1705G>T c.131G>T (p.Gly44Val) c.1808G>T (p.Gly603Val) | |
19 | g.7166285C>G | CA403666462 | INSR | c.1730G>C (p.Gly577Ala) n.1705G>C c.131G>C (p.Gly44Ala) c.1808G>C (p.Gly603Ala) | |
19 | g.7166285C>T | CA403666463 | INSR | c.1730G>A (p.Gly577Glu) n.1705G>A c.131G>A (p.Gly44Glu) c.1808G>A (p.Gly603Glu) | |
19 | g.7166286C>A | CA403666464 | INSR | c.1729G>T (p.Gly577Trp) n.1704G>T c.130G>T (p.Gly44Trp) c.1807G>T (p.Gly603Trp) | |
19 | g.7166286C>G | CA403666465 | INSR | c.1729G>C (p.Gly577Arg) n.1704G>C c.130G>C (p.Gly44Arg) c.1807G>C (p.Gly603Arg) | |
19 | g.7166286C>T | CA403666466 | INSR | c.1729G>A (p.Gly577Arg) n.1704G>A c.130G>A (p.Gly44Arg) c.1807G>A (p.Gly603Arg) | |
19 | g.7166287T>A | CA505199310 | INSR | c.1728A>T (p.Pro576=) n.1703A>T c.129A>T (p.Pro43=) c.1806A>T (p.Pro602=) | gnomAD v4 |
19 | g.7166287T>C | CA505199307 | INSR | c.1728A>G (p.Pro576=) n.1703A>G c.129A>G (p.Pro43=) c.1806A>G (p.Pro602=) | |
19 | g.7166287T>G | CA505199309 | INSR | c.1728A>C (p.Pro576=) n.1703A>C c.129A>C (p.Pro43=) c.1806A>C (p.Pro602=) | |
19 | g.7166288G>A | CA403666467 | INSR | c.1727C>T (p.Pro576Leu) n.1702C>T c.128C>T (p.Pro43Leu) c.1805C>T (p.Pro602Leu) | |
19 | g.7166288G>C | CA403666468 | INSR | c.1727C>G (p.Pro576Arg) n.1702C>G c.128C>G (p.Pro43Arg) c.1805C>G (p.Pro602Arg) | |
19 | g.7166288G>T | CA403666469 | INSR | c.1727C>A (p.Pro576Gln) n.1702C>A c.128C>A (p.Pro43Gln) c.1805C>A (p.Pro602Gln) | gnomAD v4 |
19 | g.7166289_7166290del | CA2509195715 | INSR | c.1726_1727del (p.Pro576ArgfsTer26) n.1701_1702del c.127_128del (p.Pro43ArgfsTer26) c.1804_1805del (p.Pro602ArgfsTer26) | |
19 | g.7166289G>A | CA403666470 | INSR | c.1726C>T (p.Pro576Ser) n.1701C>T c.127C>T (p.Pro43Ser) c.1804C>T (p.Pro602Ser) | |
19 | g.7166289G>C | CA403666472 | INSR | c.1726C>G (p.Pro576Ala) n.1701C>G c.127C>G (p.Pro43Ala) c.1804C>G (p.Pro602Ala) | |
19 | g.7166289G>T | CA403666471 | INSR | c.1726C>A (p.Pro576Thr) n.1701C>A c.127C>A (p.Pro43Thr) c.1804C>A (p.Pro602Thr) | |
19 | g.7166290G>A | CA505199324 | INSR | c.1725C>T (p.His575=) n.1700C>T c.126C>T (p.His42=) c.1803C>T (p.His601=) | |
19 | g.7166290G>C | CA403666473 | INSR | c.1725C>G (p.His575Gln) n.1700C>G c.126C>G (p.His42Gln) c.1803C>G (p.His601Gln) | |
19 | g.7166290G>T | CA403666474 | INSR | c.1725C>A (p.His575Gln) n.1700C>A c.126C>A (p.His42Gln) c.1803C>A (p.His601Gln) | |
19 | g.7166291T>A | CA403666475 | INSR | c.1724A>T (p.His575Leu) n.1699A>T c.125A>T (p.His42Leu) c.1802A>T (p.His601Leu) | |
19 | g.7166291T>C | CA403666476 | INSR | c.1724A>G (p.His575Arg) n.1699A>G c.125A>G (p.His42Arg) c.1802A>G (p.His601Arg) | |
19 | g.7166291T>G | CA403666477 | INSR | c.1724A>C (p.His575Pro) n.1699A>C c.125A>C (p.His42Pro) c.1802A>C (p.His601Pro) | |
19 | g.7166292G>A | CA9135761 | INSR | c.1723C>T (p.His575Tyr) n.1698C>T c.124C>T (p.His42Tyr) c.1801C>T (p.His601Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7166292G>C | CA403666478 | INSR | c.1723C>G (p.His575Asp) n.1698C>G c.124C>G (p.His42Asp) c.1801C>G (p.His601Asp) | |
19 | g.7166292G= | CA2320788254 | INSR | c.1723C= (p.His575=) n.1698C= c.124C= (p.His42=) c.1801C= (p.His601=) | |
19 | g.7166292G>T | CA403666479 | INSR | c.1723C>A (p.His575Asn) n.1698C>A c.124C>A (p.His42Asn) c.1801C>A (p.His601Asn) | |
19 | g.7166293G>A | CA505199335 | INSR | c.1722C>T (p.Asn574=) n.1697C>T c.123C>T (p.Asn41=) c.1800C>T (p.Asn600=) | gnomAD v4 |
19 | g.7166293G>C | CA403666480 | INSR | c.1722C>G (p.Asn574Lys) n.1697C>G c.123C>G (p.Asn41Lys) c.1800C>G (p.Asn600Lys) | |
19 | g.7166293G>T | CA403666481 | INSR | c.1722C>A (p.Asn574Lys) n.1697C>A c.123C>A (p.Asn41Lys) c.1800C>A (p.Asn600Lys) | |
19 | g.7166294T>A | CA403666482 | INSR | c.1721A>T (p.Asn574Ile) n.1696A>T c.122A>T (p.Asn41Ile) c.1799A>T (p.Asn600Ile) | |
19 | g.7166294T>C | CA403666483 | INSR | c.1721A>G (p.Asn574Ser) n.1696A>G c.122A>G (p.Asn41Ser) c.1799A>G (p.Asn600Ser) | |
19 | g.7166294T>G | CA403666484 | INSR | c.1721A>C (p.Asn574Thr) n.1696A>C c.122A>C (p.Asn41Thr) c.1799A>C (p.Asn600Thr) | |
19 | g.7166295T>A | CA403666487 | INSR | c.1720A>T (p.Asn574Tyr) n.1695A>T c.121A>T (p.Asn41Tyr) c.1798A>T (p.Asn600Tyr) | |
19 | g.7166295T>C | CA403666485 | INSR | c.1720A>G (p.Asn574Asp) n.1695A>G c.121A>G (p.Asn41Asp) c.1798A>G (p.Asn600Asp) | |
19 | g.7166295T>G | CA403666486 | INSR | c.1720A>C (p.Asn574His) n.1695A>C c.121A>C (p.Asn41His) c.1798A>C (p.Asn600His) | |
19 | g.7166296C>A | CA403666488 | INSR | c.1719G>T (p.Gln573His) n.1694G>T c.120G>T (p.Gln40His) c.1797G>T (p.Gln599His) | |
19 | g.7166296C>G | CA403666489 | INSR | c.1719G>C (p.Gln573His) n.1694G>C c.120G>C (p.Gln40His) c.1797G>C (p.Gln599His) | |
19 | g.7166296C>T | CA505199341 | INSR | c.1719G>A (p.Gln573=) n.1694G>A c.120G>A (p.Gln40=) c.1797G>A (p.Gln599=) | |
19 | g.7166297T>A | CA403666490 | INSR | c.1718A>T (p.Gln573Leu) n.1693A>T c.119A>T (p.Gln40Leu) c.1796A>T (p.Gln599Leu) | |
19 | g.7166297T>C | CA403666491 | INSR | c.1718A>G (p.Gln573Arg) n.1693A>G c.119A>G (p.Gln40Arg) c.1796A>G (p.Gln599Arg) | |
19 | g.7166297T>G | CA403666492 | INSR | c.1718A>C (p.Gln573Pro) n.1693A>C c.119A>C (p.Gln40Pro) c.1796A>C (p.Gln599Pro) | |
19 | g.7166298G>A | CA403666493 | INSR | c.1717C>T (p.Gln573Ter) n.1692C>T c.118C>T (p.Gln40Ter) c.1795C>T (p.Gln599Ter) | |
19 | g.7166298G>C | CA403666494 | INSR | c.1717C>G (p.Gln573Glu) n.1692C>G c.118C>G (p.Gln40Glu) c.1795C>G (p.Gln599Glu) | |
19 | g.7166298G>T | CA403666495 | INSR | c.1717C>A (p.Gln573Lys) n.1692C>A c.118C>A (p.Gln40Lys) c.1795C>A (p.Gln599Lys) | |
19 | g.7166299T>A | CA505199350 | INSR | c.1716A>T (p.Ser572=) n.1691A>T c.117A>T (p.Ser39=) c.1794A>T (p.Ser598=) | |
19 | g.7166299T>C | CA505199352 | INSR | c.1716A>G (p.Ser572=) n.1691A>G c.117A>G (p.Ser39=) c.1794A>G (p.Ser598=) | dbSNP gnomAD v4 |
19 | g.7166299T>G | CA505199354 | INSR | c.1716A>C (p.Ser572=) n.1691A>C c.117A>C (p.Ser39=) c.1794A>C (p.Ser598=) | |
19 | g.7166299T= | CA2320788255 | INSR | c.1716A= (p.Ser572=) n.1691A= c.117A= (p.Ser39=) c.1794A= (p.Ser598=) | |
19 | g.7166300G>A | CA403666496 | INSR | c.1715C>T (p.Ser572Leu) n.1690C>T c.116C>T (p.Ser39Leu) c.1793C>T (p.Ser598Leu) | |
19 | g.7166300G>C | CA403666497 | INSR | c.1715C>G (p.Ser572Ter) n.1690C>G c.116C>G (p.Ser39Ter) c.1793C>G (p.Ser598Ter) | |
19 | g.7166300G>T | CA403666498 | INSR | c.1715C>A (p.Ser572Ter) n.1690C>A c.116C>A (p.Ser39Ter) c.1793C>A (p.Ser598Ter) | |
19 | g.7166301A>C | CA403666499 | INSR | c.1714T>G (p.Ser572Ala) n.1689T>G c.115T>G (p.Ser39Ala) c.1792T>G (p.Ser598Ala) | |
19 | g.7166301A>G | CA403666501 | INSR | c.1714T>C (p.Ser572Pro) n.1689T>C c.115T>C (p.Ser39Pro) c.1792T>C (p.Ser598Pro) | |
19 | g.7166301A>T | CA403666500 | INSR | c.1714T>A (p.Ser572Thr) n.1689T>A c.115T>A (p.Ser39Thr) c.1792T>A (p.Ser598Thr) | |
19 | g.7166302T>A | CA403666502 | INSR | c.1713A>T (p.Lys571Asn) n.1688A>T c.114A>T (p.Lys38Asn) c.1791A>T (p.Lys597Asn) | |
19 | g.7166302T>C | CA505199364 | INSR | c.1713A>G (p.Lys571=) n.1688A>G c.114A>G (p.Lys38=) c.1791A>G (p.Lys597=) | |
19 | g.7166302T>G | CA403666503 | INSR | c.1713A>C (p.Lys571Asn) n.1688A>C c.114A>C (p.Lys38Asn) c.1791A>C (p.Lys597Asn) | |
19 | g.7166303T>A | CA403666504 | INSR | c.1712A>T (p.Lys571Ile) n.1687A>T c.113A>T (p.Lys38Ile) c.1790A>T (p.Lys597Ile) | |
19 | g.7166303T>C | CA403666506 | INSR | c.1712A>G (p.Lys571Arg) n.1687A>G c.113A>G (p.Lys38Arg) c.1790A>G (p.Lys597Arg) | |
19 | g.7166303T>G | CA403666505 | INSR | c.1712A>C (p.Lys571Thr) n.1687A>C c.113A>C (p.Lys38Thr) c.1790A>C (p.Lys597Thr) | |
19 | g.7166304T>A | CA403666507 | INSR | c.1711A>T (p.Lys571Ter) n.1686A>T c.112A>T (p.Lys38Ter) c.1789A>T (p.Lys597Ter) | |
19 | g.7166304T>C | CA403666508 | INSR | c.1711A>G (p.Lys571Glu) n.1686A>G c.112A>G (p.Lys38Glu) c.1789A>G (p.Lys597Glu) | |
19 | g.7166304T>G | CA403666509 | INSR | c.1711A>C (p.Lys571Gln) n.1686A>C c.112A>C (p.Lys38Gln) c.1789A>C (p.Lys597Gln) | |
19 | g.7166305G>A | CA505199374 | INSR | c.1710C>T (p.Pro570=) n.1685C>T c.111C>T (p.Pro37=) c.1788C>T (p.Pro596=) | |
19 | g.7166305G>C | CA505199376 | INSR | c.1710C>G (p.Pro570=) n.1685C>G c.111C>G (p.Pro37=) c.1788C>G (p.Pro596=) | |
19 | g.7166305G>T | CA505199378 | INSR | c.1710C>A (p.Pro570=) n.1685C>A c.111C>A (p.Pro37=) c.1788C>A (p.Pro596=) | |
19 | g.7166308del | CA2587925215 | INSR | c.1710del (p.Lys571AsnfsTer9) n.1685del c.111del (p.Lys38AsnfsTer9) c.1788del (p.Lys597AsnfsTer9) | gnomAD v4 |
19 | g.7166306G>A | CA403666510 | INSR | c.1709C>T (p.Pro570Leu) n.1684C>T c.110C>T (p.Pro37Leu) c.1787C>T (p.Pro596Leu) | gnomAD v4 |
19 | g.7166306G>C | CA403666511 | INSR | c.1709C>G (p.Pro570Arg) n.1684C>G c.110C>G (p.Pro37Arg) c.1787C>G (p.Pro596Arg) | |
19 | g.7166306G>T | CA403666512 | INSR | c.1709C>A (p.Pro570His) n.1684C>A c.110C>A (p.Pro37His) c.1787C>A (p.Pro596His) | |
19 | g.7166307G>A | CA403666513 | INSR | c.1708C>T (p.Pro570Ser) n.1683C>T c.109C>T (p.Pro37Ser) c.1786C>T (p.Pro596Ser) | |
19 | g.7166307G>C | CA403666514 | INSR | c.1708C>G (p.Pro570Ala) n.1683C>G c.109C>G (p.Pro37Ala) c.1786C>G (p.Pro596Ala) | |
19 | g.7166307G>T | CA403666515 | INSR | c.1708C>A (p.Pro570Thr) n.1683C>A c.109C>A (p.Pro37Thr) c.1786C>A (p.Pro596Thr) | |
19 | g.7166308G>A | CA505199387 | INSR | c.1707C>T (p.Asp569=) n.1682C>T c.108C>T (p.Asp36=) c.1785C>T (p.Asp595=) | gnomAD v4 |
19 | g.7166308G>C | CA403666516 | INSR | c.1707C>G (p.Asp569Glu) n.1682C>G c.108C>G (p.Asp36Glu) c.1785C>G (p.Asp595Glu) | |
19 | g.7166308G>T | CA403666517 | INSR | c.1707C>A (p.Asp569Glu) n.1682C>A c.108C>A (p.Asp36Glu) c.1785C>A (p.Asp595Glu) | |
19 | g.7166309T>A | CA403666518 | INSR | c.1706A>T (p.Asp569Val) n.1681A>T c.107A>T (p.Asp36Val) c.1784A>T (p.Asp595Val) | |
19 | g.7166309T>C | CA403666520 | INSR | c.1706A>G (p.Asp569Gly) n.1681A>G c.107A>G (p.Asp36Gly) c.1784A>G (p.Asp595Gly) | |
19 | g.7166309T>G | CA403666519 | INSR | c.1706A>C (p.Asp569Ala) n.1681A>C c.107A>C (p.Asp36Ala) c.1784A>C (p.Asp595Ala) | |
19 | g.7166310C>A | CA403666521 | INSR | c.1705G>T (p.Asp569Tyr) n.1680G>T c.106G>T (p.Asp36Tyr) c.1783G>T (p.Asp595Tyr) | gnomAD v4 |
19 | g.7166310C= | CA2320788256 | INSR | c.1705G= (p.Asp569=) n.1680G= c.106G= (p.Asp36=) c.1783G= (p.Asp595=) | |
19 | g.7166310C>G | CA403666522 | INSR | c.1705G>C (p.Asp569His) n.1680G>C c.106G>C (p.Asp36His) c.1783G>C (p.Asp595His) | gnomAD v4 |
19 | g.7166310C>T | CA9135762 | INSR | c.1705G>A (p.Asp569Asn) n.1680G>A c.106G>A (p.Asp36Asn) c.1783G>A (p.Asp595Asn) | dbSNP ExAC gnomAD v4 |
19 | g.7166311G>A | CA9135763 | INSR | c.1704C>T (p.Asn568=) n.1679C>T c.105C>T (p.Asn35=) c.1782C>T (p.Asn594=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7166311G>C | CA403666523 | INSR | c.1704C>G (p.Asn568Lys) n.1679C>G c.105C>G (p.Asn35Lys) c.1782C>G (p.Asn594Lys) | |
19 | g.7166311G= | CA2320788257 | INSR | c.1704C= (p.Asn568=) n.1679C= c.105C= (p.Asn35=) c.1782C= (p.Asn594=) | |
19 | g.7166311G>T | CA403666524 | INSR | c.1704C>A (p.Asn568Lys) n.1679C>A c.105C>A (p.Asn35Lys) c.1782C>A (p.Asn594Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7166312T>A | CA403666525 | INSR | c.1703A>T (p.Asn568Ile) n.1678A>T c.104A>T (p.Asn35Ile) c.1781A>T (p.Asn594Ile) | |
19 | g.7166312T>C | CA403666526 | INSR | c.1703A>G (p.Asn568Ser) n.1678A>G c.104A>G (p.Asn35Ser) c.1781A>G (p.Asn594Ser) | COSMIC |
19 | g.7166312T>G | CA403666527 | INSR | c.1703A>C (p.Asn568Thr) n.1678A>C c.104A>C (p.Asn35Thr) c.1781A>C (p.Asn594Thr) | |
19 | g.7166313T>A | CA403666529 | INSR | c.1702A>T (p.Asn568Tyr) n.1677A>T c.103A>T (p.Asn35Tyr) c.1780A>T (p.Asn594Tyr) | |
19 | g.7166313T>C | CA403666530 | INSR | c.1702A>G (p.Asn568Asp) n.1677A>G c.103A>G (p.Asn35Asp) c.1780A>G (p.Asn594Asp) | |
19 | g.7166313T>G | CA403666528 | INSR | c.1702A>C (p.Asn568His) n.1677A>C c.103A>C (p.Asn35His) c.1780A>C (p.Asn594His) | |
19 | g.7166314G>A | CA505199408 | INSR | c.1701C>T (p.Ser567=) n.1676C>T c.102C>T (p.Ser34=) c.1779C>T (p.Ser593=) | |
19 | g.7166314G>C | CA505199413 | INSR | c.1701C>G (p.Ser567=) n.1676C>G c.102C>G (p.Ser34=) c.1779C>G (p.Ser593=) | |
19 | g.7166314G>T | CA505199411 | INSR | c.1701C>A (p.Ser567=) n.1676C>A c.102C>A (p.Ser34=) c.1779C>A (p.Ser593=) | |
19 | g.7166315G>A | CA403666531 | INSR | c.1700C>T (p.Ser567Phe) n.1675C>T c.101C>T (p.Ser34Phe) c.1778C>T (p.Ser593Phe) | |
19 | g.7166315G>C | CA403666532 | INSR | c.1700C>G (p.Ser567Cys) n.1675C>G c.101C>G (p.Ser34Cys) c.1778C>G (p.Ser593Cys) | |
19 | g.7166315G>T | CA403666533 | INSR | c.1700C>A (p.Ser567Tyr) n.1675C>A c.101C>A (p.Ser34Tyr) c.1778C>A (p.Ser593Tyr) | |
19 | g.7166316A>C | CA403666534 | INSR | c.1699T>G (p.Ser567Ala) n.1674T>G c.100T>G (p.Ser34Ala) c.1777T>G (p.Ser593Ala) | |
19 | g.7166316A>G | CA403666535 | INSR | c.1699T>C (p.Ser567Pro) n.1674T>C c.100T>C (p.Ser34Pro) c.1777T>C (p.Ser593Pro) | |
19 | g.7166316A>T | CA403666536 | INSR | c.1699T>A (p.Ser567Thr) n.1674T>A c.100T>A (p.Ser34Thr) c.1777T>A (p.Ser593Thr) | |
19 | g.7166317C>A | CA403666537 | INSR | c.1698G>T (p.Arg566Ser) n.1673G>T c.99G>T (p.Arg33Ser) c.1776G>T (p.Arg592Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7166317C= | CA2320788258 | INSR | c.1698G= (p.Arg566=) n.1673G= c.99G= (p.Arg33=) c.1776G= (p.Arg592=) | |
19 | g.7166317C>G | CA403666538 | INSR | c.1698G>C (p.Arg566Ser) n.1673G>C c.99G>C (p.Arg33Ser) c.1776G>C (p.Arg592Ser) | |
19 | g.7166317C>T | CA505199422 | INSR | c.1698G>A (p.Arg566=) n.1673G>A c.99G>A (p.Arg33=) c.1776G>A (p.Arg592=) | |
19 | g.7166318C>A | CA403666539 | INSR | c.1697G>T (p.Arg566Met) n.1672G>T c.98G>T (p.Arg33Met) c.1775G>T (p.Arg592Met) | |
19 | g.7166318C= | CA2320788259 | INSR | c.1697G= (p.Arg566=) n.1672G= c.98G= (p.Arg33=) c.1775G= (p.Arg592=) | |
19 | g.7166318C>G | CA9135764 | INSR | c.1697G>C (p.Arg566Thr) n.1672G>C c.98G>C (p.Arg33Thr) c.1775G>C (p.Arg592Thr) | dbSNP ExAC gnomAD v2 |
19 | g.7166318C>T | CA403666540 | INSR | c.1697G>A (p.Arg566Lys) n.1672G>A c.98G>A (p.Arg33Lys) c.1775G>A (p.Arg592Lys) | dbSNP |
19 | g.7166319T>A | CA403666541 | INSR | c.1696A>T (p.Arg566Trp) n.1671A>T c.97A>T (p.Arg33Trp) c.1774A>T (p.Arg592Trp) | |
19 | g.7166319T>C | CA403666542 | INSR | c.1696A>G (p.Arg566Gly) n.1671A>G c.97A>G (p.Arg33Gly) c.1774A>G (p.Arg592Gly) | |
19 | g.7166319T>G | CA505199431 | INSR | c.1696A>C (p.Arg566=) n.1671A>C c.97A>C (p.Arg33=) c.1774A>C (p.Arg592=) | |
19 | g.7166320C>A | CA505199434 | INSR | c.1695G>T (p.Leu565=) n.1670G>T c.96G>T (p.Leu32=) c.1773G>T (p.Leu591=) | |
19 | g.7166320C>G | CA505199437 | INSR | c.1695G>C (p.Leu565=) n.1670G>C c.96G>C (p.Leu32=) c.1773G>C (p.Leu591=) | |
19 | g.7166320C>T | CA505199439 | INSR | c.1695G>A (p.Leu565=) n.1670G>A c.96G>A (p.Leu32=) c.1773G>A (p.Leu591=) | |
19 | g.7166321A>C | CA403666543 | INSR | c.1694T>G (p.Leu565Arg) n.1669T>G c.95T>G (p.Leu32Arg) c.1772T>G (p.Leu591Arg) | |
19 | g.7166321A>G | CA403666545 | INSR | c.1694T>C (p.Leu565Pro) n.1669T>C c.95T>C (p.Leu32Pro) c.1772T>C (p.Leu591Pro) | |
19 | g.7166321A>T | CA403666544 | INSR | c.1694T>A (p.Leu565Gln) n.1669T>A c.95T>A (p.Leu32Gln) c.1772T>A (p.Leu591Gln) | |
19 | g.7166321_7166322del | CA2528573822 | INSR | c.1693_1694del (p.Leu565GlufsTer?) n.1668_1669del c.94_95del (p.Leu32GlufsTer?) c.1771_1772del (p.Leu591GlufsTer?) | |
19 | g.7166322G>A | CA505199443 | INSR | c.1693C>T (p.Leu565=) n.1668C>T c.94C>T (p.Leu32=) c.1771C>T (p.Leu591=) | |
19 | g.7166322G>C | CA403666546 | INSR | c.1693C>G (p.Leu565Val) n.1668C>G c.94C>G (p.Leu32Val) c.1771C>G (p.Leu591Val) | |
19 | g.7166322G>T | CA403666547 | INSR | c.1693C>A (p.Leu565Met) n.1668C>A c.94C>A (p.Leu32Met) c.1771C>A (p.Leu591Met) | |
19 | g.7166325dup | CA2841701811 | INSR | c.1693dup (p.Leu565ProfsTer?) n.1668dup c.94dup (p.Leu32ProfsTer?) c.1771dup (p.Leu591ProfsTer?) | |
19 | g.7166323G>A | CA505199450 | INSR | c.1692C>T (p.Pro564=) n.1667C>T c.93C>T (p.Pro31=) c.1770C>T (p.Pro590=) | dbSNP gnomAD v4 |
19 | g.7166323G>C | CA505199452 | INSR | c.1692C>G (p.Pro564=) n.1667C>G c.93C>G (p.Pro31=) c.1770C>G (p.Pro590=) | |
19 | g.7166323G= | CA2320788260 | INSR | c.1692C= (p.Pro564=) n.1667C= c.93C= (p.Pro31=) c.1770C= (p.Pro590=) | |
19 | g.7166323G>T | CA505199453 | INSR | c.1692C>A (p.Pro564=) n.1667C>A c.93C>A (p.Pro31=) c.1770C>A (p.Pro590=) | |
19 | g.7166323_7166324insTA | CA2531611310 | INSR | c.1691_1692insTA (p.Leu565ThrfsTer2) n.1666_1667insTA c.92_93insTA (p.Leu32ThrfsTer2) c.1769_1770insTA (p.Leu591ThrfsTer2) | |
19 | g.7166324G>A | CA403666548 | INSR | c.1691C>T (p.Pro564Leu) n.1666C>T c.92C>T (p.Pro31Leu) c.1769C>T (p.Pro590Leu) | |
19 | g.7166324G>C | CA403666549 | INSR | c.1691C>G (p.Pro564Arg) n.1666C>G c.92C>G (p.Pro31Arg) c.1769C>G (p.Pro590Arg) | |
19 | g.7166324G>T | CA403666550 | INSR | c.1691C>A (p.Pro564His) n.1666C>A c.92C>A (p.Pro31His) c.1769C>A (p.Pro590His) | |
19 | g.7166325G>A | CA403666551 | INSR | c.1690C>T (p.Pro564Ser) n.1665C>T c.91C>T (p.Pro31Ser) c.1768C>T (p.Pro590Ser) | |
19 | g.7166325G>C | CA403666552 | INSR | c.1690C>G (p.Pro564Ala) n.1665C>G c.91C>G (p.Pro31Ala) c.1768C>G (p.Pro590Ala) | |
19 | g.7166325G>T | CA403666553 | INSR | c.1690C>A (p.Pro564Thr) n.1665C>A c.91C>A (p.Pro31Thr) c.1768C>A (p.Pro590Thr) | gnomAD v4 |
19 | g.7166326T>A | CA9135765 | INSR | c.1689A>T (p.Pro563=) n.1664A>T c.90A>T (p.Pro30=) c.1767A>T (p.Pro589=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7166326T>C | CA505199462 | INSR | c.1689A>G (p.Pro563=) n.1664A>G c.90A>G (p.Pro30=) c.1767A>G (p.Pro589=) | |
19 | g.7166326T>G | CA505199463 | INSR | c.1689A>C (p.Pro563=) n.1664A>C c.90A>C (p.Pro30=) c.1767A>C (p.Pro589=) | |
19 | g.7166326T= | CA2320788261 | INSR | c.1689A= (p.Pro563=) n.1664A= c.90A= (p.Pro30=) c.1767A= (p.Pro589=) | |
19 | g.7166327G>A | CA403666554 | INSR | c.1688C>T (p.Pro563Leu) n.1663C>T c.89C>T (p.Pro30Leu) c.1766C>T (p.Pro589Leu) | |
19 | g.7166327G>C | CA403666555 | INSR | c.1688C>G (p.Pro563Arg) n.1663C>G c.89C>G (p.Pro30Arg) c.1766C>G (p.Pro589Arg) | gnomAD v4 |
19 | g.7166327G>T | CA403666556 | INSR | c.1688C>A (p.Pro563Gln) n.1663C>A c.89C>A (p.Pro30Gln) c.1766C>A (p.Pro589Gln) | |
19 | g.7166328G>A | CA403666558 | INSR | c.1687C>T (p.Pro563Ser) n.1662C>T c.88C>T (p.Pro30Ser) c.1765C>T (p.Pro589Ser) | |
19 | g.7166328G>C | CA403666559 | INSR | c.1687C>G (p.Pro563Ala) n.1662C>G c.88C>G (p.Pro30Ala) c.1765C>G (p.Pro589Ala) | |
19 | g.7166328G>T | CA403666557 | INSR | c.1687C>A (p.Pro563Thr) n.1662C>A c.88C>A (p.Pro30Thr) c.1765C>A (p.Pro589Thr) | |
19 | g.7166329G>A | CA505199475 | INSR | c.1686C>T (p.Asp562=) n.1661C>T c.87C>T (p.Asp29=) c.1764C>T (p.Asp588=) | dbSNP |
19 | g.7166329G>C | CA403666560 | INSR | c.1686C>G (p.Asp562Glu) n.1661C>G c.87C>G (p.Asp29Glu) c.1764C>G (p.Asp588Glu) | |
19 | g.7166329G= | CA2320788262 | INSR | c.1686C= (p.Asp562=) n.1661C= c.87C= (p.Asp29=) c.1764C= (p.Asp588=) | |
19 | g.7166329G>T | CA403666561 | INSR | c.1686C>A (p.Asp562Glu) n.1661C>A c.87C>A (p.Asp29Glu) c.1764C>A (p.Asp588Glu) | |
19 | g.7166330T>A | CA403666562 | INSR | c.1685A>T (p.Asp562Val) n.1660A>T c.86A>T (p.Asp29Val) c.1763A>T (p.Asp588Val) | |
19 | g.7166330T>C | CA403666563 | INSR | c.1685A>G (p.Asp562Gly) n.1660A>G c.86A>G (p.Asp29Gly) c.1763A>G (p.Asp588Gly) | |
19 | g.7166330T>G | CA403666564 | INSR | c.1685A>C (p.Asp562Ala) n.1660A>C c.86A>C (p.Asp29Ala) c.1763A>C (p.Asp588Ala) | |
19 | g.7166331C>A | CA403666565 | INSR | c.1684G>T (p.Asp562Tyr) n.1659G>T c.85G>T (p.Asp29Tyr) c.1762G>T (p.Asp588Tyr) | dbSNP |
19 | g.7166331C= | CA2320788263 | INSR | c.1684G= (p.Asp562=) n.1659G= c.85G= (p.Asp29=) c.1762G= (p.Asp588=) | |
19 | g.7166331C>G | CA403666566 | INSR | c.1684G>C (p.Asp562His) n.1659G>C c.85G>C (p.Asp29His) c.1762G>C (p.Asp588His) | |
19 | g.7166331C>T | CA403666567 | INSR | c.1684G>A (p.Asp562Asn) n.1659G>A c.85G>A (p.Asp29Asn) c.1762G>A (p.Asp588Asn) | |
19 | g.7166331_7166332insTTGGG | CA920049208 | INSR | c.1683_1684insCCCAA (p.Asp562ProfsTer6) n.1658_1659insCCCAA c.84_85insCCCAA (p.Asp29ProfsTer6) c.1761_1762insCCCAA (p.Asp588ProfsTer6) | dbSNP |
19 | g.7166332A= | CA2320788264 | INSR | c.1683T= (p.Ile561=) n.1658T= c.84T= (p.Ile28=) c.1761T= (p.Ile587=) | |
19 | g.7166332A>C | CA403666568 | INSR | c.1683T>G (p.Ile561Met) n.1658T>G c.84T>G (p.Ile28Met) c.1761T>G (p.Ile587Met) | |
19 | g.7166332A>G | CA505199491 | INSR | c.1683T>C (p.Ile561=) n.1658T>C c.84T>C (p.Ile28=) c.1761T>C (p.Ile587=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7166332A>T | CA505199493 | INSR | c.1683T>A (p.Ile561=) n.1658T>A c.84T>A (p.Ile28=) c.1761T>A (p.Ile587=) | |
19 | g.7166333A>C | CA403666569 | INSR | c.1682T>G (p.Ile561Ser) n.1657T>G c.83T>G (p.Ile28Ser) c.1760T>G (p.Ile587Ser) | |
19 | g.7166333A>G | CA403666570 | INSR | c.1682T>C (p.Ile561Thr) n.1657T>C c.83T>C (p.Ile28Thr) c.1760T>C (p.Ile587Thr) | gnomAD v4 |
19 | g.7166333A>T | CA403666571 | INSR | c.1682T>A (p.Ile561Asn) n.1657T>A c.83T>A (p.Ile28Asn) c.1760T>A (p.Ile587Asn) | |
19 | g.7166334T>A | CA403666572 | INSR | c.1681A>T (p.Ile561Phe) n.1656A>T c.82A>T (p.Ile28Phe) c.1759A>T (p.Ile587Phe) | |
19 | g.7166334T>C | CA403666573 | INSR | c.1681A>G (p.Ile561Val) n.1656A>G c.82A>G (p.Ile28Val) c.1759A>G (p.Ile587Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7166334T>G | CA403666574 | INSR | c.1681A>C (p.Ile561Leu) n.1656A>C c.82A>C (p.Ile28Leu) c.1759A>C (p.Ile587Leu) | |
19 | g.7166334T= | CA2320788265 | INSR | c.1681A= (p.Ile561=) n.1656A= c.82A= (p.Ile28=) c.1759A= (p.Ile587=) | |
19 | g.7166335G>A | CA505199503 | INSR | c.1680C>T (p.Asp560=) n.1655C>T c.81C>T (p.Asp27=) c.1758C>T (p.Asp586=) | dbSNP gnomAD v4 |
19 | g.7166335G>C | CA403666575 | INSR | c.1680C>G (p.Asp560Glu) n.1655C>G c.81C>G (p.Asp27Glu) c.1758C>G (p.Asp586Glu) | |
19 | g.7166335G= | CA2320788266 | INSR | c.1680C= (p.Asp560=) n.1655C= c.81C= (p.Asp27=) c.1758C= (p.Asp586=) | |
19 | g.7166335G>T | CA403666576 | INSR | c.1680C>A (p.Asp560Glu) n.1655C>A c.81C>A (p.Asp27Glu) c.1758C>A (p.Asp586Glu) | |
19 | g.7166336T>A | CA403666577 | INSR | c.1679A>T (p.Asp560Val) n.1654A>T c.80A>T (p.Asp27Val) c.1757A>T (p.Asp586Val) | COSMIC COSMIC |
19 | g.7166336T>C | CA403666578 | INSR | c.1679A>G (p.Asp560Gly) n.1654A>G c.80A>G (p.Asp27Gly) c.1757A>G (p.Asp586Gly) | COSMIC COSMIC |
19 | g.7166336T>G | CA403666579 | INSR | c.1679A>C (p.Asp560Ala) n.1654A>C c.80A>C (p.Asp27Ala) c.1757A>C (p.Asp586Ala) | |
19 | g.7166337C>A | CA403666580 | INSR | c.1678G>T (p.Asp560Tyr) n.1653G>T c.79G>T (p.Asp27Tyr) c.1756G>T (p.Asp586Tyr) | |
19 | g.7166337C= | CA2320788267 | INSR | c.1678G= (p.Asp560=) n.1653G= c.79G= (p.Asp27=) c.1756G= (p.Asp586=) | |
19 | g.7166337C>G | CA403666581 | INSR | c.1678G>C (p.Asp560His) n.1653G>C c.79G>C (p.Asp27His) c.1756G>C (p.Asp586His) | dbSNP |
19 | g.7166337C>T | CA403666582 | INSR | c.1678G>A (p.Asp560Asn) n.1653G>A c.79G>A (p.Asp27Asn) c.1756G>A (p.Asp586Asn) | |
19 | g.7166338T>A | CA505199518 | INSR | c.1677A>T (p.Val559=) n.1652A>T c.78A>T (p.Val26=) c.1755A>T (p.Val585=) | COSMIC COSMIC |
19 | g.7166338T>C | CA9135766 | INSR | c.1677A>G (p.Val559=) n.1652A>G c.78A>G (p.Val26=) c.1755A>G (p.Val585=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7166338T>G | CA505199515 | INSR | c.1677A>C (p.Val559=) n.1652A>C c.78A>C (p.Val26=) c.1755A>C (p.Val585=) | |
19 | g.7166338T= | CA2320788268 | INSR | c.1677A= (p.Val559=) n.1652A= c.78A= (p.Val26=) c.1755A= (p.Val585=) | |
19 | g.7166339A>C | CA403666583 | INSR | c.1676T>G (p.Val559Gly) n.1651T>G c.77T>G (p.Val26Gly) c.1754T>G (p.Val585Gly) | |
19 | g.7166339A>G | CA403666584 | INSR | c.1676T>C (p.Val559Ala) n.1651T>C c.77T>C (p.Val26Ala) c.1754T>C (p.Val585Ala) | COSMIC COSMIC |
19 | g.7166339A>T | CA403666585 | INSR | c.1676T>A (p.Val559Glu) n.1651T>A c.77T>A (p.Val26Glu) c.1754T>A (p.Val585Glu) | |
19 | g.7166340C>A | CA403666586 | INSR | c.1675G>T (p.Val559Leu) n.1650G>T c.76G>T (p.Val26Leu) c.1753G>T (p.Val585Leu) | |
19 | g.7166340C>G | CA403666587 | INSR | c.1675G>C (p.Val559Leu) n.1650G>C c.76G>C (p.Val26Leu) c.1753G>C (p.Val585Leu) | |
19 | g.7166340C>T | CA403666588 | INSR | c.1675G>A (p.Val559Ile) n.1650G>A c.76G>A (p.Val26Ile) c.1753G>A (p.Val585Ile) | |
19 | g.7166341C>A | CA505199525 | INSR | c.1674G>T (p.Val558=) n.1649G>T c.75G>T (p.Val25=) c.1752G>T (p.Val584=) | |
19 | g.7166341C>G | CA505199527 | INSR | c.1674G>C (p.Val558=) n.1649G>C c.75G>C (p.Val25=) c.1752G>C (p.Val584=) | |
19 | g.7166341C>T | CA505199528 | INSR | c.1674G>A (p.Val558=) n.1649G>A c.75G>A (p.Val25=) c.1752G>A (p.Val584=) | |
19 | g.7166342A>C | CA403666589 | INSR | c.1673T>G (p.Val558Gly) n.1648T>G c.74T>G (p.Val25Gly) c.1751T>G (p.Val584Gly) | |
19 | g.7166342A>G | CA403666591 | INSR | c.1673T>C (p.Val558Ala) n.1648T>C c.74T>C (p.Val25Ala) c.1751T>C (p.Val584Ala) | |
19 | g.7166342A>T | CA403666590 | INSR | c.1673T>A (p.Val558Glu) n.1648T>A c.74T>A (p.Val25Glu) c.1751T>A (p.Val584Glu) | |
19 | g.7166343C>A | CA403666592 | INSR | c.1672G>T (p.Val558Leu) n.1647G>T c.73G>T (p.Val25Leu) c.1750G>T (p.Val584Leu) | |
19 | g.7166343C>G | CA403666593 | INSR | c.1672G>C (p.Val558Leu) n.1647G>C c.73G>C (p.Val25Leu) c.1750G>C (p.Val584Leu) | |
19 | g.7166343C>T | CA403666594 | INSR | c.1672G>A (p.Val558Met) n.1647G>A c.73G>A (p.Val25Met) c.1750G>A (p.Val584Met) | gnomAD v4 |
19 | g.7166344C>A | CA505199542 | INSR | c.1671G>T (p.Thr557=) n.1646G>T c.72G>T (p.Thr24=) c.1749G>T (p.Thr583=) | gnomAD v4 COSMIC COSMIC |
19 | g.7166344C= | CA2320788269 | INSR | c.1671G= (p.Thr557=) n.1646G= c.72G= (p.Thr24=) c.1749G= (p.Thr583=) | |
19 | g.7166344C>G | CA505199543 | INSR | c.1671G>C (p.Thr557=) n.1646G>C c.72G>C (p.Thr24=) c.1749G>C (p.Thr583=) | |
19 | g.7166344C>T | CA9135767 | INSR | c.1671G>A (p.Thr557=) n.1646G>A c.72G>A (p.Thr24=) c.1749G>A (p.Thr583=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7166345G>A | CA9135768 | INSR | c.1670C>T (p.Thr557Met) n.1645C>T c.71C>T (p.Thr24Met) c.1748C>T (p.Thr583Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7166345G>C | CA403666595 | INSR | c.1670C>G (p.Thr557Arg) n.1645C>G c.71C>G (p.Thr24Arg) c.1748C>G (p.Thr583Arg) | |
19 | g.7166345G= | CA2320788270 | INSR | c.1670C= (p.Thr557=) n.1645C= c.71C= (p.Thr24=) c.1748C= (p.Thr583=) | |
19 | g.7166345G>T | CA403666596 | INSR | c.1670C>A (p.Thr557Lys) n.1645C>A c.71C>A (p.Thr24Lys) c.1748C>A (p.Thr583Lys) | |
19 | g.7166346T>A | CA403666597 | INSR | c.1669A>T (p.Thr557Ser) n.1644A>T c.70A>T (p.Thr24Ser) c.1747A>T (p.Thr583Ser) | gnomAD v4 |
19 | g.7166346T>C | CA403666598 | INSR | c.1669A>G (p.Thr557Ala) n.1644A>G c.70A>G (p.Thr24Ala) c.1747A>G (p.Thr583Ala) | |
19 | g.7166346T>G | CA403666599 | INSR | c.1669A>C (p.Thr557Pro) n.1644A>C c.70A>C (p.Thr24Pro) c.1747A>C (p.Thr583Pro) | |
19 | g.7166347C>A | CA403666600 | INSR | c.1668G>T (p.Trp556Cys) n.1643G>T c.69G>T (p.Trp23Cys) c.1746G>T (p.Trp582Cys) | |
19 | g.7166347C>G | CA403666601 | INSR | c.1668G>C (p.Trp556Cys) n.1643G>C c.69G>C (p.Trp23Cys) c.1746G>C (p.Trp582Cys) | |
19 | g.7166347C>T | CA403666602 | INSR | c.1668G>A (p.Trp556Ter) n.1643G>A c.69G>A (p.Trp23Ter) c.1746G>A (p.Trp582Ter) | |
19 | g.7166348C>A | CA403666604 | INSR | c.1667G>T (p.Trp556Leu) n.1642G>T c.68G>T (p.Trp23Leu) c.1745G>T (p.Trp582Leu) | dbSNP gnomAD v2 |
19 | g.7166348C= | CA2320788271 | INSR | c.1667G= (p.Trp556=) n.1642G= c.68G= (p.Trp23=) c.1745G= (p.Trp582=) | |
19 | g.7166348C>G | CA403666603 | INSR | c.1667G>C (p.Trp556Ser) n.1642G>C c.68G>C (p.Trp23Ser) c.1745G>C (p.Trp582Ser) | |
19 | g.7166348C>T | CA9135769 | INSR | c.1667G>A (p.Trp556Ter) n.1642G>A c.68G>A (p.Trp23Ter) c.1745G>A (p.Trp582Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7166349A>C | CA403666605 | INSR | c.1666T>G (p.Trp556Gly) n.1641T>G c.67T>G (p.Trp23Gly) c.1744T>G (p.Trp582Gly) | |
19 | g.7166349A>G | CA403666606 | INSR | c.1666T>C (p.Trp556Arg) n.1641T>C c.67T>C (p.Trp23Arg) c.1744T>C (p.Trp582Arg) | |
19 | g.7166349A>T | CA403666607 | INSR | c.1666T>A (p.Trp556Arg) n.1641T>A c.67T>A (p.Trp23Arg) c.1744T>A (p.Trp582Arg) | |
19 | g.7166350A= | CA2320788272 | INSR | c.1665T= (p.Ser555=) n.1640T= c.66T= (p.Ser22=) c.1743T= (p.Ser581=) | |
19 | g.7166350A>C | CA403666608 | INSR | c.1665T>G (p.Ser555Arg) n.1640T>G c.66T>G (p.Ser22Arg) c.1743T>G (p.Ser581Arg) | |
19 | g.7166350A>G | CA9135770 | INSR | c.1665T>C (p.Ser555=) n.1640T>C c.66T>C (p.Ser22=) c.1743T>C (p.Ser581=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7166350A>T | CA403666609 | INSR | c.1665T>A (p.Ser555Arg) n.1640T>A c.66T>A (p.Ser22Arg) c.1743T>A (p.Ser581Arg) | |
19 | g.7166351C>A | CA403666610 | INSR | c.1664G>T (p.Ser555Ile) n.1639G>T c.65G>T (p.Ser22Ile) c.1742G>T (p.Ser581Ile) | |
19 | g.7166351C= | CA2320788273 | INSR | c.1664G= (p.Ser555=) n.1639G= c.65G= (p.Ser22=) c.1742G= (p.Ser581=) | |
19 | g.7166351C>G | CA9135771 | INSR | c.1664G>C (p.Ser555Thr) n.1639G>C c.65G>C (p.Ser22Thr) c.1742G>C (p.Ser581Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7166351C>T | CA403666611 | INSR | c.1664G>A (p.Ser555Asn) n.1639G>A c.65G>A (p.Ser22Asn) c.1742G>A (p.Ser581Asn) | |
19 | g.7166352T>A | CA403666612 | INSR | c.1663A>T (p.Ser555Cys) n.1638A>T c.64A>T (p.Ser22Cys) c.1741A>T (p.Ser581Cys) | |
19 | g.7166352T>C | CA403666613 | INSR | c.1663A>G (p.Ser555Gly) n.1638A>G c.64A>G (p.Ser22Gly) c.1741A>G (p.Ser581Gly) | |
19 | g.7166352T>G | CA403666614 | INSR | c.1663A>C (p.Ser555Arg) n.1638A>C c.64A>C (p.Ser22Arg) c.1741A>C (p.Ser581Arg) | |
19 | g.7166353G>A | CA505199581 | INSR | c.1662C>T (p.Asn554=) n.1637C>T c.63C>T (p.Asn21=) c.1740C>T (p.Asn580=) | |
19 | g.7166353G>C | CA403666615 | INSR | c.1662C>G (p.Asn554Lys) n.1637C>G c.63C>G (p.Asn21Lys) c.1740C>G (p.Asn580Lys) | |
19 | g.7166353G>T | CA403666616 | INSR | c.1662C>A (p.Asn554Lys) n.1637C>A c.63C>A (p.Asn21Lys) c.1740C>A (p.Asn580Lys) | |
19 | g.7166354T>A | CA403666617 | INSR | c.1661A>T (p.Asn554Ile) n.1636A>T c.62A>T (p.Asn21Ile) c.1739A>T (p.Asn580Ile) | |
19 | g.7166354T>C | CA9135772 | INSR | c.1661A>G (p.Asn554Ser) n.1636A>G c.62A>G (p.Asn21Ser) c.1739A>G (p.Asn580Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7166354T>G | CA403666618 | INSR | c.1661A>C (p.Asn554Thr) n.1636A>C c.62A>C (p.Asn21Thr) c.1739A>C (p.Asn580Thr) | |
19 | g.7166354T= | CA2320788274 | INSR | c.1661A= (p.Asn554=) n.1636A= c.62A= (p.Asn21=) c.1739A= (p.Asn580=) | |
19 | g.7166355T>A | CA403666619 | INSR | c.1660A>T (p.Asn554Tyr) n.1635A>T c.61A>T (p.Asn21Tyr) c.1738A>T (p.Asn580Tyr) | |
19 | g.7166355T>C | CA403666621 | INSR | c.1660A>G (p.Asn554Asp) n.1635A>G c.61A>G (p.Asn21Asp) c.1738A>G (p.Asn580Asp) | |
19 | g.7166355T>G | CA403666620 | INSR | c.1660A>C (p.Asn554His) n.1635A>C c.61A>C (p.Asn21His) c.1738A>C (p.Asn580His) | |
19 | g.7166356G>A | CA505199595 | INSR | c.1659C>T (p.Ser553=) n.1634C>T c.60C>T (p.Ser20=) c.1737C>T (p.Ser579=) | |
19 | g.7166356G>C | CA505199596 | INSR | c.1659C>G (p.Ser553=) n.1634C>G c.60C>G (p.Ser20=) c.1737C>G (p.Ser579=) | |
19 | g.7166356G>T | CA505199597 | INSR | c.1659C>A (p.Ser553=) n.1634C>A c.60C>A (p.Ser20=) c.1737C>A (p.Ser579=) | |
19 | g.7166357G>A | CA403666622 | INSR | c.1658C>T (p.Ser553Phe) n.1633C>T c.59C>T (p.Ser20Phe) c.1736C>T (p.Ser579Phe) | |
19 | g.7166357G>C | CA403666623 | INSR | c.1658C>G (p.Ser553Cys) n.1633C>G c.59C>G (p.Ser20Cys) c.1736C>G (p.Ser579Cys) | |
19 | g.7166357G>T | CA403666624 | INSR | c.1658C>A (p.Ser553Tyr) n.1633C>A c.59C>A (p.Ser20Tyr) c.1736C>A (p.Ser579Tyr) | |
19 | g.7166358A>C | CA403666625 | INSR | c.1657T>G (p.Ser553Ala) n.1632T>G c.58T>G (p.Ser20Ala) c.1735T>G (p.Ser579Ala) | |
19 | g.7166358A>G | CA403666626 | INSR | c.1657T>C (p.Ser553Pro) n.1632T>C c.58T>C (p.Ser20Pro) c.1735T>C (p.Ser579Pro) | |
19 | g.7166358A>T | CA403666627 | INSR | c.1657T>A (p.Ser553Thr) n.1632T>A c.58T>A (p.Ser20Thr) c.1735T>A (p.Ser579Thr) | |
19 | g.7166359A>C | CA505199601 | INSR | c.1656T>G (p.Gly552=) n.1631T>G c.57T>G (p.Gly19=) c.1734T>G (p.Gly578=) | |
19 | g.7166359A>G | CA505199603 | INSR | c.1656T>C (p.Gly552=) n.1631T>C c.57T>C (p.Gly19=) c.1734T>C (p.Gly578=) | |
19 | g.7166359A>T | CA505199606 | INSR | c.1656T>A (p.Gly552=) n.1631T>A c.57T>A (p.Gly19=) c.1734T>A (p.Gly578=) | |
19 | g.7166360C>A | CA403666630 | INSR | c.1655G>T (p.Gly552Val) n.1630G>T c.56G>T (p.Gly19Val) c.1733G>T (p.Gly578Val) | |
19 | g.7166360C>G | CA403666628 | INSR | c.1655G>C (p.Gly552Ala) n.1630G>C c.56G>C (p.Gly19Ala) c.1733G>C (p.Gly578Ala) | |
19 | g.7166360C>T | CA403666629 | INSR | c.1655G>A (p.Gly552Asp) n.1630G>A c.56G>A (p.Gly19Asp) c.1733G>A (p.Gly578Asp) | |
19 | g.7166361C>A | CA403666631 | INSR | c.1654G>T (p.Gly552Cys) n.1629G>T c.55G>T (p.Gly19Cys) c.1732G>T (p.Gly578Cys) | |
19 | g.7166361C= | CA2320788275 | INSR | c.1654G= (p.Gly552=) n.1629G= c.55G= (p.Gly19=) c.1732G= (p.Gly578=) | |
19 | g.7166361C>G | CA403666632 | INSR | c.1654G>C (p.Gly552Arg) n.1629G>C c.55G>C (p.Gly19Arg) c.1732G>C (p.Gly578Arg) | |
19 | g.7166361C>T | CA403666633 | INSR | c.1654G>A (p.Gly552Ser) n.1629G>A c.55G>A (p.Gly19Ser) c.1732G>A (p.Gly578Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7166362A>C | CA403666634 | INSR | c.1653T>G (p.Cys551Trp) n.1628T>G c.54T>G (p.Cys18Trp) c.1731T>G (p.Cys577Trp) | |
19 | g.7166362A>G | CA505199618 | INSR | c.1653T>C (p.Cys551=) n.1628T>C c.54T>C (p.Cys18=) c.1731T>C (p.Cys577=) | |
19 | g.7166362A>T | CA403666635 | INSR | c.1653T>A (p.Cys551Ter) n.1628T>A c.54T>A (p.Cys18Ter) c.1731T>A (p.Cys577Ter) | |
19 | g.7166363C>A | CA403666638 | INSR | c.1652G>T (p.Cys551Phe) n.1627G>T c.53G>T (p.Cys18Phe) c.1730G>T (p.Cys577Phe) | |
19 | g.7166363C= | CA2320788276 | INSR | c.1652G= (p.Cys551=) n.1627G= c.53G= (p.Cys18=) c.1730G= (p.Cys577=) | |
19 | g.7166363C>G | CA403666636 | INSR | c.1652G>C (p.Cys551Ser) n.1627G>C c.53G>C (p.Cys18Ser) c.1730G>C (p.Cys577Ser) | |
19 | g.7166363C>T | CA403666637 | INSR | c.1652G>A (p.Cys551Tyr) n.1627G>A c.53G>A (p.Cys18Tyr) c.1730G>A (p.Cys577Tyr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7166364A>C | CA403666639 | INSR | c.1651T>G (p.Cys551Gly) n.1626T>G c.52T>G (p.Cys18Gly) c.1729T>G (p.Cys577Gly) | |
19 | g.7166364A>G | CA403666640 | INSR | c.1651T>C (p.Cys551Arg) n.1626T>C c.52T>C (p.Cys18Arg) c.1729T>C (p.Cys577Arg) | COSMIC COSMIC |
19 | g.7166364A>T | CA403666641 | INSR | c.1651T>A (p.Cys551Ser) n.1626T>A c.52T>A (p.Cys18Ser) c.1729T>A (p.Cys577Ser) | |
19 | g.7166365C>A | CA505199645 | INSR | c.1650G>T (p.Ala550=) n.1625G>T c.51G>T (p.Ala17=) c.1728G>T (p.Ala576=) | gnomAD v4 |
19 | g.7166365C= | CA2320788277 | INSR | c.1650G= (p.Ala550=) n.1625G= c.51G= (p.Ala17=) c.1728G= (p.Ala576=) | |
19 | g.7166365C>G | CA9135773 | INSR | c.1650G>C (p.Ala550=) n.1625G>C c.51G>C (p.Ala17=) c.1728G>C (p.Ala576=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7166365C>T | CA203559 | INSR | c.1650G>A (p.Ala550=) n.1625G>A c.51G>A (p.Ala17=) c.1728G>A (p.Ala576=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7166366G>A | CA403666642 | INSR | c.1649C>T (p.Ala550Val) n.1624C>T c.50C>T (p.Ala17Val) c.1727C>T (p.Ala576Val) | ClinVar |
19 | g.7166366G>C | CA9135774 | INSR | c.1649C>G (p.Ala550Gly) n.1624C>G c.50C>G (p.Ala17Gly) c.1727C>G (p.Ala576Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7166366G= | CA2320788278 | INSR | c.1649C= (p.Ala550=) n.1624C= c.50C= (p.Ala17=) c.1727C= (p.Ala576=) | |
19 | g.7166366G>T | CA403666643 | INSR | c.1649C>A (p.Ala550Glu) n.1624C>A c.50C>A (p.Ala17Glu) c.1727C>A (p.Ala576Glu) | |
19 | g.7166367C>A | CA403666644 | INSR | c.1648G>T (p.Ala550Ser) n.1623G>T c.49G>T (p.Ala17Ser) c.1726G>T (p.Ala576Ser) | |
19 | g.7166367C>G | CA403666645 | INSR | c.1648G>C (p.Ala550Pro) n.1623G>C c.49G>C (p.Ala17Pro) c.1726G>C (p.Ala576Pro) | |
19 | g.7166367C>T | CA403666646 | INSR | c.1648G>A (p.Ala550Thr) n.1623G>A c.49G>A (p.Ala17Thr) c.1726G>A (p.Ala576Thr) | |
19 | g.7166368A>C | CA403666647 | INSR | c.1647T>G (p.Asp549Glu) n.1622T>G c.48T>G (p.Asp16Glu) c.1725T>G (p.Asp575Glu) | |
19 | g.7166368A>G | CA505199660 | INSR | c.1647T>C (p.Asp549=) n.1622T>C c.48T>C (p.Asp16=) c.1725T>C (p.Asp575=) | |
19 | g.7166368A>T | CA403666648 | INSR | c.1647T>A (p.Asp549Glu) n.1622T>A c.48T>A (p.Asp16Glu) c.1725T>A (p.Asp575Glu) | |
19 | g.7166369T>A | CA403666649 | INSR | c.1646A>T (p.Asp549Val) n.1621A>T c.47A>T (p.Asp16Val) c.1724A>T (p.Asp575Val) | |
19 | g.7166369T>C | CA403666651 | INSR | c.1646A>G (p.Asp549Gly) n.1621A>G c.47A>G (p.Asp16Gly) c.1724A>G (p.Asp575Gly) | |
19 | g.7166369T>G | CA403666650 | INSR | c.1646A>C (p.Asp549Ala) n.1621A>C c.47A>C (p.Asp16Ala) c.1724A>C (p.Asp575Ala) | |
19 | g.7166370C>A | CA403666652 | INSR | c.1645G>T (p.Asp549Tyr) n.1620G>T c.46G>T (p.Asp16Tyr) c.1723G>T (p.Asp575Tyr) | |
19 | g.7166370C= | CA2320788279 | INSR | c.1645G= (p.Asp549=) n.1620G= c.46G= (p.Asp16=) c.1723G= (p.Asp575=) | |
19 | g.7166370C>G | CA403666653 | INSR | c.1645G>C (p.Asp549His) n.1620G>C c.46G>C (p.Asp16His) c.1723G>C (p.Asp575His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7166370C>T | CA403666654 | INSR | c.1645G>A (p.Asp549Asn) n.1620G>A c.46G>A (p.Asp16Asn) c.1723G>A (p.Asp575Asn) | |
19 | g.7166371C>A | CA403666655 | INSR | c.1644G>T (p.Gln548His) n.1619G>T c.45G>T (p.Gln15His) c.1722G>T (p.Gln574His) | |
19 | g.7166371C= | CA2320788280 | INSR | c.1644G= (p.Gln548=) n.1619G= c.45G= (p.Gln15=) c.1722G= (p.Gln574=) | |
19 | g.7166371C>G | CA403666656 | INSR | c.1644G>C (p.Gln548His) n.1619G>C c.45G>C (p.Gln15His) c.1722G>C (p.Gln574His) | |
19 | g.7166371C>T | CA304856298 | INSR | c.1644G>A (p.Gln548=) n.1619G>A c.45G>A (p.Gln15=) c.1722G>A (p.Gln574=) | dbSNP |
19 | g.7166372T>A | CA403666657 | INSR | c.1643A>T (p.Gln548Leu) n.1618A>T c.44A>T (p.Gln15Leu) c.1721A>T (p.Gln574Leu) | |
19 | g.7166372T>C | CA403666658 | INSR | c.1643A>G (p.Gln548Arg) n.1618A>G c.44A>G (p.Gln15Arg) c.1721A>G (p.Gln574Arg) | |
19 | g.7166372T>G | CA403666659 | INSR | c.1643A>C (p.Gln548Pro) n.1618A>C c.44A>C (p.Gln15Pro) c.1721A>C (p.Gln574Pro) | |
19 | g.7166373G>A | CA403666660 | INSR | c.1642C>T (p.Gln548Ter) n.1617C>T c.43C>T (p.Gln15Ter) c.1720C>T (p.Gln574Ter) | |
19 | g.7166373G>C | CA403666661 | INSR | c.1642C>G (p.Gln548Glu) n.1617C>G c.43C>G (p.Gln15Glu) c.1720C>G (p.Gln574Glu) | |
19 | g.7166373G>T | CA403666662 | INSR | c.1642C>A (p.Gln548Lys) n.1617C>A c.43C>A (p.Gln15Lys) c.1720C>A (p.Gln574Lys) | |
19 | g.7166374C>A | CA505199689 | INSR | c.1641G>T (p.Gly547=) n.1616G>T c.42G>T (p.Gly14=) c.1719G>T (p.Gly573=) | |
19 | g.7166374C>G | CA505199690 | INSR | c.1641G>C (p.Gly547=) n.1616G>C c.42G>C (p.Gly14=) c.1719G>C (p.Gly573=) | |
19 | g.7166374C>T | CA505199692 | INSR | c.1641G>A (p.Gly547=) n.1616G>A c.42G>A (p.Gly14=) c.1719G>A (p.Gly573=) | |
19 | g.7166375C>A | CA403666665 | INSR | c.1640G>T (p.Gly547Val) n.1615G>T c.41G>T (p.Gly14Val) c.1718G>T (p.Gly573Val) | |
19 | g.7166375C>G | CA403666664 | INSR | c.1640G>C (p.Gly547Ala) n.1615G>C c.41G>C (p.Gly14Ala) c.1718G>C (p.Gly573Ala) | |
19 | g.7166375C>T | CA403666663 | INSR | c.1640G>A (p.Gly547Glu) n.1615G>A c.41G>A (p.Gly14Glu) c.1718G>A (p.Gly573Glu) | |
19 | g.7166376C>A | CA403666666 | INSR | c.1639G>T (p.Gly547Trp) n.1614G>T c.40G>T (p.Gly14Trp) c.1717G>T (p.Gly573Trp) | |
19 | g.7166376C= | CA2320788281 | INSR | c.1639G= (p.Gly547=) n.1614G= c.40G= (p.Gly14=) c.1717G= (p.Gly573=) | |
19 | g.7166376C>G | CA403666667 | INSR | c.1639G>C (p.Gly547Arg) n.1614G>C c.40G>C (p.Gly14Arg) c.1717G>C (p.Gly573Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7166376C>T | CA9135775 | INSR | c.1639G>A (p.Gly547Arg) n.1614G>A c.40G>A (p.Gly14Arg) c.1717G>A (p.Gly573Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |