Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.133775522T>A | CA354610381 | TF | c.1777T>A (p.Tyr593Asn) c.508T>A n.2771T>A c.1645T>A (p.Tyr549Asn) c.1396T>A (p.Tyr466Asn) | |
3 | g.133775522T>C | CA354610382 | TF | c.1777T>C (p.Tyr593His) c.508T>C n.2771T>C c.1645T>C (p.Tyr549His) c.1396T>C (p.Tyr466His) | gnomAD v4 |
3 | g.133775522T>G | CA354610383 | TF | c.1777T>G (p.Tyr593Asp) c.508T>G n.2771T>G c.1645T>G (p.Tyr549Asp) c.1396T>G (p.Tyr466Asp) | |
3 | g.133775523A>C | CA354610384 | TF | c.1778A>C (p.Tyr593Ser) c.509A>C n.2772A>C c.1646A>C (p.Tyr549Ser) c.1397A>C (p.Tyr466Ser) | |
3 | g.133775523A>G | CA354610385 | TF | c.1778A>G (p.Tyr593Cys) c.509A>G n.2772A>G c.1646A>G (p.Tyr549Cys) c.1397A>G (p.Tyr466Cys) | gnomAD v4 |
3 | g.133775523A>T | CA354610386 | TF | c.1778A>T (p.Tyr593Phe) c.509A>T n.2772A>T c.1646A>T (p.Tyr549Phe) c.1397A>T (p.Tyr466Phe) | |
3 | g.133775524T>A | CA354610387 | TF | c.1779T>A (p.Tyr593Ter) c.510T>A n.2773T>A c.1647T>A (p.Tyr549Ter) c.1398T>A (p.Tyr466Ter) | |
3 | g.133775524T>C | CA2625409 | TF | c.1779T>C (p.Tyr593=) c.510T>C n.2773T>C c.1647T>C (p.Tyr549=) c.1398T>C (p.Tyr466=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775524T>G | CA354610388 | TF | c.1779T>G (p.Tyr593Ter) c.510T>G n.2773T>G c.1647T>G (p.Tyr549Ter) c.1398T>G (p.Tyr466Ter) | |
3 | g.133775524T= | CA1403122758 | TF | c.1779T= (p.Tyr593=) c.510T= n.2773T= c.1647T= (p.Tyr549=) c.1398T= (p.Tyr466=) | |
3 | g.133775525G>A | CA354610389 | TF | c.1780G>A (p.Ala594Thr) c.511G>A n.2774G>A c.1648G>A (p.Ala550Thr) c.1399G>A (p.Ala467Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775525G>C | CA354610390 | TF | c.1780G>C (p.Ala594Pro) c.511G>C n.2774G>C c.1648G>C (p.Ala550Pro) c.1399G>C (p.Ala467Pro) | |
3 | g.133775525G= | CA1403122760 | TF | c.1780G= (p.Ala594=) c.511G= n.2774G= c.1648G= (p.Ala550=) c.1399G= (p.Ala467=) | |
3 | g.133775525G>T | CA354610391 | TF | c.1780G>T (p.Ala594Ser) c.511G>T n.2774G>T c.1648G>T (p.Ala550Ser) c.1399G>T (p.Ala467Ser) | |
3 | g.133775526C>A | CA354610392 | TF | c.1781C>A (p.Ala594Glu) c.512C>A n.2775C>A c.1649C>A (p.Ala550Glu) c.1400C>A (p.Ala467Glu) | |
3 | g.133775526C= | CA1403122762 | TF | c.1781C= (p.Ala594=) c.512C= n.2775C= c.1649C= (p.Ala550=) c.1400C= (p.Ala467=) | |
3 | g.133775526C>G | CA354610394 | TF | c.1781C>G (p.Ala594Gly) c.512C>G n.2775C>G c.1649C>G (p.Ala550Gly) c.1400C>G (p.Ala467Gly) | |
3 | g.133775526C>T | CA354610393 | TF | c.1781C>T (p.Ala594Val) c.512C>T n.2775C>T c.1649C>T (p.Ala550Val) c.1400C>T (p.Ala467Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775527G>A | CA2625411 | TF | c.1782G>A (p.Ala594=) c.513G>A n.2776G>A c.1650G>A (p.Ala550=) c.1401G>A (p.Ala467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775527G>C | CA435815844 | TF | c.1782G>C (p.Ala594=) c.513G>C n.2776G>C c.1650G>C (p.Ala550=) c.1401G>C (p.Ala467=) | ClinVar gnomAD v4 |
3 | g.133775527G= | CA1403122767 | TF | c.1782G= (p.Ala594=) c.513G= n.2776G= c.1650G= (p.Ala550=) c.1401G= (p.Ala467=) | |
3 | g.133775527G>T | CA2625410 | TF | c.1782G>T (p.Ala594=) c.513G>T n.2776G>T c.1650G>T (p.Ala550=) c.1401G>T (p.Ala467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775528A>C | CA354610395 | TF | c.1783A>C (p.Asn595His) c.514A>C n.2777A>C c.1651A>C (p.Asn551His) c.1402A>C (p.Asn468His) | |
3 | g.133775528A>G | CA354610397 | TF | c.1783A>G (p.Asn595Asp) c.514A>G n.2777A>G c.1651A>G (p.Asn551Asp) c.1402A>G (p.Asn468Asp) | |
3 | g.133775528A>T | CA354610396 | TF | c.1783A>T (p.Asn595Tyr) c.514A>T n.2777A>T c.1651A>T (p.Asn551Tyr) c.1402A>T (p.Asn468Tyr) | |
3 | g.133775529A= | CA1403122773 | TF | c.1784A= (p.Asn595=) c.515A= n.2778A= c.1652A= (p.Asn551=) c.1403A= (p.Asn468=) | |
3 | g.133775529A>C | CA354610398 | TF | c.1784A>C (p.Asn595Thr) c.515A>C n.2778A>C c.1652A>C (p.Asn551Thr) c.1403A>C (p.Asn468Thr) | dbSNP |
3 | g.133775529A>G | CA354610400 | TF | c.1784A>G (p.Asn595Ser) c.515A>G n.2778A>G c.1652A>G (p.Asn551Ser) c.1403A>G (p.Asn468Ser) | |
3 | g.133775529A>T | CA354610399 | TF | c.1784A>T (p.Asn595Ile) c.515A>T n.2778A>T c.1652A>T (p.Asn551Ile) c.1403A>T (p.Asn468Ile) | |
3 | g.133775530C>A | CA354610401 | TF | c.1785C>A (p.Asn595Lys) c.516C>A n.2779C>A c.1653C>A (p.Asn551Lys) c.1404C>A (p.Asn468Lys) | gnomAD v4 |
3 | g.133775530C= | CA1403122782 | TF | c.1785C= (p.Asn595=) c.516C= n.2779C= c.1653C= (p.Asn551=) c.1404C= (p.Asn468=) | |
3 | g.133775530C>G | CA354610402 | TF | c.1785C>G (p.Asn595Lys) c.516C>G n.2779C>G c.1653C>G (p.Asn551Lys) c.1404C>G (p.Asn468Lys) | |
3 | g.133775530C>T | CA2625412 | TF | c.1785C>T (p.Asn595=) c.516C>T n.2779C>T c.1653C>T (p.Asn551=) c.1404C>T (p.Asn468=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775531T>A | CA354610403 | TF | c.1786T>A (p.Cys596Ser) c.517T>A n.2780T>A c.1654T>A (p.Cys552Ser) c.1405T>A (p.Cys469Ser) | |
3 | g.133775531T>C | CA354610405 | TF | c.1786T>C (p.Cys596Arg) c.517T>C n.2780T>C c.1654T>C (p.Cys552Arg) c.1405T>C (p.Cys469Arg) | |
3 | g.133775531T>G | CA354610404 | TF | c.1786T>G (p.Cys596Gly) c.517T>G n.2780T>G c.1654T>G (p.Cys552Gly) c.1405T>G (p.Cys469Gly) | |
3 | g.133775532G>A | CA354610406 | TF | c.1787G>A (p.Cys596Tyr) c.518G>A n.2781G>A c.1655G>A (p.Cys552Tyr) c.1406G>A (p.Cys469Tyr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775532G>C | CA354610408 | TF | c.1787G>C (p.Cys596Ser) c.518G>C n.2781G>C c.1655G>C (p.Cys552Ser) c.1406G>C (p.Cys469Ser) | |
3 | g.133775532G= | CA1403122791 | TF | c.1787G= (p.Cys596=) c.518G= n.2781G= c.1655G= (p.Cys552=) c.1406G= (p.Cys469=) | |
3 | g.133775532G>T | CA354610407 | TF | c.1787G>T (p.Cys596Phe) c.518G>T n.2781G>T c.1655G>T (p.Cys552Phe) c.1406G>T (p.Cys469Phe) | |
3 | g.133775533C>A | CA354610409 | TF | c.1788C>A (p.Cys596Ter) c.519C>A n.2782C>A c.1656C>A (p.Cys552Ter) c.1407C>A (p.Cys469Ter) | |
3 | g.133775533C>G | CA354610410 | TF | c.1788C>G (p.Cys596Trp) c.519C>G n.2782C>G c.1656C>G (p.Cys552Trp) c.1407C>G (p.Cys469Trp) | |
3 | g.133775533C>T | CA435815845 | TF | c.1788C>T (p.Cys596=) c.519C>T n.2782C>T c.1656C>T (p.Cys552=) c.1407C>T (p.Cys469=) | ClinVar |
3 | g.133775534C>A | CA354610411 | TF | c.1789C>A (p.His597Asn) c.520C>A n.2783C>A c.1657C>A (p.His553Asn) c.1408C>A (p.His470Asn) | |
3 | g.133775534C>G | CA354610412 | TF | c.1789C>G (p.His597Asp) c.520C>G n.2783C>G c.1657C>G (p.His553Asp) c.1408C>G (p.His470Asp) | |
3 | g.133775534C>T | CA354610413 | TF | c.1789C>T (p.His597Tyr) c.520C>T n.2783C>T c.1657C>T (p.His553Tyr) c.1408C>T (p.His470Tyr) | |
3 | g.133775535A= | CA1403122795 | TF | c.1790A= (p.His597=) c.521A= n.2784A= c.1658A= (p.His553=) c.1409A= (p.His470=) | |
3 | g.133775535A>C | CA354610414 | TF | c.1790A>C (p.His597Pro) c.521A>C n.2784A>C c.1658A>C (p.His553Pro) c.1409A>C (p.His470Pro) | dbSNP |
3 | g.133775535A>G | CA354610415 | TF | c.1790A>G (p.His597Arg) c.521A>G n.2784A>G c.1658A>G (p.His553Arg) c.1409A>G (p.His470Arg) | |
3 | g.133775535A>T | CA354610416 | TF | c.1790A>T (p.His597Leu) c.521A>T n.2784A>T c.1658A>T (p.His553Leu) c.1409A>T (p.His470Leu) | |
3 | g.133775536C>A | CA354610417 | TF | c.1791C>A (p.His597Gln) c.522C>A n.2785C>A c.1659C>A (p.His553Gln) c.1410C>A (p.His470Gln) | gnomAD v4 |
3 | g.133775536C= | CA1403122798 | TF | c.1791C= (p.His597=) c.522C= n.2785C= c.1659C= (p.His553=) c.1410C= (p.His470=) | |
3 | g.133775536C>G | CA354610418 | TF | c.1791C>G (p.His597Gln) c.522C>G n.2785C>G c.1659C>G (p.His553Gln) c.1410C>G (p.His470Gln) | |
3 | g.133775536C>T | CA2625413 | TF | c.1791C>T (p.His597=) c.522C>T n.2785C>T c.1659C>T (p.His553=) c.1410C>T (p.His470=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775537C>A | CA354610420 | TF | c.1792C>A (p.Leu598Met) c.523C>A n.2786C>A c.1660C>A (p.Leu554Met) c.1411C>A (p.Leu471Met) | |
3 | g.133775537C>G | CA354610419 | TF | c.1792C>G (p.Leu598Val) c.523C>G n.2786C>G c.1660C>G (p.Leu554Val) c.1411C>G (p.Leu471Val) | |
3 | g.133775537C>T | CA435815846 | TF | c.1792C>T (p.Leu598=) c.523C>T n.2786C>T c.1660C>T (p.Leu554=) c.1411C>T (p.Leu471=) | |
3 | g.133775538T>A | CA354610421 | TF | c.1793T>A (p.Leu598Gln) c.524T>A n.2787T>A c.1661T>A (p.Leu554Gln) c.1412T>A (p.Leu471Gln) | |
3 | g.133775538T>C | CA354610422 | TF | c.1793T>C (p.Leu598Pro) c.524T>C n.2787T>C c.1661T>C (p.Leu554Pro) c.1412T>C (p.Leu471Pro) | dbSNP |
3 | g.133775538T>G | CA354610423 | TF | c.1793T>G (p.Leu598Arg) c.524T>G n.2787T>G c.1661T>G (p.Leu554Arg) c.1412T>G (p.Leu471Arg) | |
3 | g.133775539_133775554dup | CA2667772098 | TF | c.1794_1809dup (p.His604GlyfsTer14) c.525_540dup n.2788_2803dup c.1662_1677dup (p.His560GlyfsTer14) c.1413_1428dup (p.His477GlyfsTer14) | gnomAD v4 |
3 | g.133775539G>A | CA435815847 | TF | c.1794G>A (p.Leu598=) c.525G>A n.2788G>A c.1662G>A (p.Leu554=) c.1413G>A (p.Leu471=) | |
3 | g.133775539G>C | CA435815848 | TF | c.1794G>C (p.Leu598=) c.525G>C n.2788G>C c.1662G>C (p.Leu554=) c.1413G>C (p.Leu471=) | |
3 | g.133775539G>T | CA435815849 | TF | c.1794G>T (p.Leu598=) c.525G>T n.2788G>T c.1662G>T (p.Leu554=) c.1413G>T (p.Leu471=) | |
3 | g.133775540G>A | CA354610424 | TF | c.1795G>A (p.Ala599Thr) c.526G>A n.2789G>A c.1663G>A (p.Ala555Thr) c.1414G>A (p.Ala472Thr) | |
3 | g.133775540G>C | CA354610425 | TF | c.1795G>C (p.Ala599Pro) c.526G>C n.2789G>C c.1663G>C (p.Ala555Pro) c.1414G>C (p.Ala472Pro) | gnomAD v4 |
3 | g.133775540G>T | CA354610426 | TF | c.1795G>T (p.Ala599Ser) c.526G>T n.2789G>T c.1663G>T (p.Ala555Ser) c.1414G>T (p.Ala472Ser) | |
3 | g.133775541C>A | CA354610427 | TF | c.1796C>A (p.Ala599Asp) c.527C>A n.2790C>A c.1664C>A (p.Ala555Asp) c.1415C>A (p.Ala472Asp) | |
3 | g.133775541C>G | CA354610428 | TF | c.1796C>G (p.Ala599Gly) c.527C>G n.2790C>G c.1664C>G (p.Ala555Gly) c.1415C>G (p.Ala472Gly) | |
3 | g.133775541C>T | CA354610429 | TF | c.1796C>T (p.Ala599Val) c.527C>T n.2790C>T c.1664C>T (p.Ala555Val) c.1415C>T (p.Ala472Val) | |
3 | g.133775542C>A | CA435815850 | TF | c.1797C>A (p.Ala599=) c.528C>A n.2791C>A c.1665C>A (p.Ala555=) c.1416C>A (p.Ala472=) | gnomAD v4 |
3 | g.133775542C= | CA1403122806 | TF | c.1797C= (p.Ala599=) c.528C= n.2791C= c.1665C= (p.Ala555=) c.1416C= (p.Ala472=) | |
3 | g.133775542C>G | CA435815851 | TF | c.1797C>G (p.Ala599=) c.528C>G n.2791C>G c.1665C>G (p.Ala555=) c.1416C>G (p.Ala472=) | |
3 | g.133775542C>T | CA435815852 | TF | c.1797C>T (p.Ala599=) c.528C>T n.2791C>T c.1665C>T (p.Ala555=) c.1416C>T (p.Ala472=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775543A>C | CA435815853 | TF | c.1798A>C (p.Arg600=) c.529A>C n.2792A>C c.1666A>C (p.Arg556=) c.1417A>C (p.Arg473=) | |
3 | g.133775543A>G | CA354610430 | TF | c.1798A>G (p.Arg600Gly) c.529A>G n.2792A>G c.1666A>G (p.Arg556Gly) c.1417A>G (p.Arg473Gly) | |
3 | g.133775543A>T | CA354610431 | TF | c.1798A>T (p.Arg600Ter) c.529A>T n.2792A>T c.1666A>T (p.Arg556Ter) c.1417A>T (p.Arg473Ter) | |
3 | g.133775544G>A | CA2625414 | TF | c.1799G>A (p.Arg600Lys) c.530G>A n.2793G>A c.1667G>A (p.Arg556Lys) c.1418G>A (p.Arg473Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775544G>C | CA354610433 | TF | c.1799G>C (p.Arg600Thr) c.530G>C n.2793G>C c.1667G>C (p.Arg556Thr) c.1418G>C (p.Arg473Thr) | |
3 | g.133775544G= | CA1403122811 | TF | c.1799G= (p.Arg600=) c.530G= n.2793G= c.1667G= (p.Arg556=) c.1418G= (p.Arg473=) | |
3 | g.133775544G>T | CA354610432 | TF | c.1799G>T (p.Arg600Ile) c.530G>T n.2793G>T c.1667G>T (p.Arg556Ile) c.1418G>T (p.Arg473Ile) | |
3 | g.133775545A>C | CA354610434 | TF | c.1800A>C (p.Arg600Ser) c.531A>C n.2794A>C c.1668A>C (p.Arg556Ser) c.1419A>C (p.Arg473Ser) | |
3 | g.133775545A>G | CA435815854 | TF | c.1800A>G (p.Arg600=) c.531A>G n.2794A>G c.1668A>G (p.Arg556=) c.1419A>G (p.Arg473=) | |
3 | g.133775545A>T | CA354610435 | TF | c.1800A>T (p.Arg600Ser) c.531A>T n.2794A>T c.1668A>T (p.Arg556Ser) c.1419A>T (p.Arg473Ser) | |
3 | g.133775546G>A | CA354610436 | TF | c.1801G>A (p.Ala601Thr) c.532G>A n.2795G>A c.1669G>A (p.Ala557Thr) c.1420G>A (p.Ala474Thr) | gnomAD v4 |
3 | g.133775546G>C | CA354610437 | TF | c.1801G>C (p.Ala601Pro) c.532G>C n.2795G>C c.1669G>C (p.Ala557Pro) c.1420G>C (p.Ala474Pro) | |
3 | g.133775546G>T | CA354610438 | TF | c.1801G>T (p.Ala601Ser) c.532G>T n.2795G>T c.1669G>T (p.Ala557Ser) c.1420G>T (p.Ala474Ser) | |
3 | g.133775547C>A | CA354610439 | TF | c.1802C>A (p.Ala601Asp) c.533C>A n.2796C>A c.1670C>A (p.Ala557Asp) c.1421C>A (p.Ala474Asp) | |
3 | g.133775547C= | CA1403122817 | TF | c.1802C= (p.Ala601=) c.533C= n.2796C= c.1670C= (p.Ala557=) c.1421C= (p.Ala474=) | |
3 | g.133775547C>G | CA354610440 | TF | c.1802C>G (p.Ala601Gly) c.533C>G n.2796C>G c.1670C>G (p.Ala557Gly) c.1421C>G (p.Ala474Gly) | dbSNP gnomAD v4 |
3 | g.133775547C>T | CA354610441 | TF | c.1802C>T (p.Ala601Val) c.533C>T n.2796C>T c.1670C>T (p.Ala557Val) c.1421C>T (p.Ala474Val) | gnomAD v4 |
3 | g.133775548C>A | CA435815855 | TF | c.1803C>A (p.Ala601=) c.534C>A n.2797C>A c.1671C>A (p.Ala557=) c.1422C>A (p.Ala474=) | |
3 | g.133775548C>G | CA435815857 | TF | c.1803C>G (p.Ala601=) c.534C>G n.2797C>G c.1671C>G (p.Ala557=) c.1422C>G (p.Ala474=) | |
3 | g.133775548C>T | CA435815856 | TF | c.1803C>T (p.Ala601=) c.534C>T n.2797C>T c.1671C>T (p.Ala557=) c.1422C>T (p.Ala474=) | ClinVar gnomAD v4 COSMIC |
3 | g.133775549C>A | CA354610442 | TF | c.1804C>A (p.Pro602Thr) c.535C>A n.2798C>A c.1672C>A (p.Pro558Thr) c.1423C>A (p.Pro475Thr) | |
3 | g.133775549C>G | CA354610443 | TF | c.1804C>G (p.Pro602Ala) c.535C>G n.2798C>G c.1672C>G (p.Pro558Ala) c.1423C>G (p.Pro475Ala) | |
3 | g.133775549C>T | CA354610444 | TF | c.1804C>T (p.Pro602Ser) c.535C>T n.2798C>T c.1672C>T (p.Pro558Ser) c.1423C>T (p.Pro475Ser) | |
3 | g.133775550C>A | CA10617300 | TF | c.1805C>A (p.Pro602Gln) c.536C>A n.2799C>A c.1673C>A (p.Pro558Gln) c.1424C>A (p.Pro475Gln) | ClinVar dbSNP |
3 | g.133775550C= | CA1403122827 | TF | c.1805C= (p.Pro602=) c.536C= n.2799C= c.1673C= (p.Pro558=) c.1424C= (p.Pro475=) | |
3 | g.133775550C>G | CA354610445 | TF | c.1805C>G (p.Pro602Arg) c.536C>G n.2799C>G c.1673C>G (p.Pro558Arg) c.1424C>G (p.Pro475Arg) | |
3 | g.133775550C>T | CA2625415 | TF | c.1805C>T (p.Pro602Leu) c.536C>T n.2799C>T c.1673C>T (p.Pro558Leu) c.1424C>T (p.Pro475Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775551G>A | CA2625416 | TF | c.1806G>A (p.Pro602=) c.537G>A n.2800G>A c.1674G>A (p.Pro558=) c.1425G>A (p.Pro475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775551G>C | CA435815858 | TF | c.1806G>C (p.Pro602=) c.537G>C n.2800G>C c.1674G>C (p.Pro558=) c.1425G>C (p.Pro475=) | |
3 | g.133775551G= | CA1403122841 | TF | c.1806G= (p.Pro602=) c.537G= n.2800G= c.1674G= (p.Pro558=) c.1425G= (p.Pro475=) | |
3 | g.133775551G>T | CA435815859 | TF | c.1806G>T (p.Pro602=) c.537G>T n.2800G>T c.1674G>T (p.Pro558=) c.1425G>T (p.Pro475=) | |
3 | g.133775552A>C | CA354610446 | TF | c.1807A>C (p.Asn603His) c.538A>C n.2801A>C c.1675A>C (p.Asn559His) c.1426A>C (p.Asn476His) | |
3 | g.133775552A>G | CA354610447 | TF | c.1807A>G (p.Asn603Asp) c.538A>G n.2801A>G c.1675A>G (p.Asn559Asp) c.1426A>G (p.Asn476Asp) | gnomAD v4 |
3 | g.133775552A>T | CA354610448 | TF | c.1807A>T (p.Asn603Tyr) c.538A>T n.2801A>T c.1675A>T (p.Asn559Tyr) c.1426A>T (p.Asn476Tyr) | |
3 | g.133775553A>C | CA354610449 | TF | c.1808A>C (p.Asn603Thr) c.539A>C n.2802A>C c.1676A>C (p.Asn559Thr) c.1427A>C (p.Asn476Thr) | |
3 | g.133775553A>G | CA354610450 | TF | c.1808A>G (p.Asn603Ser) c.539A>G n.2802A>G c.1676A>G (p.Asn559Ser) c.1427A>G (p.Asn476Ser) | |
3 | g.133775553A>T | CA354610451 | TF | c.1808A>T (p.Asn603Ile) c.539A>T n.2802A>T c.1676A>T (p.Asn559Ile) c.1427A>T (p.Asn476Ile) | |
3 | g.133775554T>A | CA354610452 | TF | c.1809T>A (p.Asn603Lys) c.540T>A n.2803T>A c.1677T>A (p.Asn559Lys) c.1428T>A (p.Asn476Lys) | |
3 | g.133775554T>C | CA435815860 | TF | c.1809T>C (p.Asn603=) c.540T>C n.2803T>C c.1677T>C (p.Asn559=) c.1428T>C (p.Asn476=) | |
3 | g.133775554T>G | CA354610453 | TF | c.1809T>G (p.Asn603Lys) c.540T>G n.2803T>G c.1677T>G (p.Asn559Lys) c.1428T>G (p.Asn476Lys) | |
3 | g.133775555C>A | CA354610454 | TF | c.1810C>A (p.His604Asn) c.541C>A n.2804C>A c.1678C>A (p.His560Asn) c.1429C>A (p.His477Asn) | |
3 | g.133775555C>G | CA354610455 | TF | c.1810C>G (p.His604Asp) c.541C>G n.2804C>G c.1678C>G (p.His560Asp) c.1429C>G (p.His477Asp) | |
3 | g.133775555C>T | CA354610456 | TF | c.1810C>T (p.His604Tyr) c.541C>T n.2804C>T c.1678C>T (p.His560Tyr) c.1429C>T (p.His477Tyr) | |
3 | g.133775556A>C | CA354610458 | TF | c.1811A>C (p.His604Pro) c.542A>C n.2805A>C c.1679A>C (p.His560Pro) c.1430A>C (p.His477Pro) | |
3 | g.133775556A>G | CA354610459 | TF | c.1811A>G (p.His604Arg) c.542A>G n.2805A>G c.1679A>G (p.His560Arg) c.1430A>G (p.His477Arg) | |
3 | g.133775556A>T | CA354610457 | TF | c.1811A>T (p.His604Leu) c.542A>T n.2805A>T c.1679A>T (p.His560Leu) c.1430A>T (p.His477Leu) | |
3 | g.133775557C>A | CA354610461 | TF | c.1812C>A (p.His604Gln) c.543C>A n.2806C>A c.1680C>A (p.His560Gln) c.1431C>A (p.His477Gln) | |
3 | g.133775557C= | CA1403122846 | TF | c.1812C= (p.His604=) c.543C= n.2806C= c.1680C= (p.His560=) c.1431C= (p.His477=) | |
3 | g.133775557C>G | CA354610460 | TF | c.1812C>G (p.His604Gln) c.543C>G n.2806C>G c.1680C>G (p.His560Gln) c.1431C>G (p.His477Gln) | |
3 | g.133775557C>T | CA2625417 | TF | c.1812C>T (p.His604=) c.543C>T n.2806C>T c.1680C>T (p.His560=) c.1431C>T (p.His477=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775558G>A | CA354610462 | TF | c.1813G>A (p.Ala605Thr) c.544G>A n.2807G>A c.1681G>A (p.Ala561Thr) c.1432G>A (p.Ala478Thr) | dbSNP |
3 | g.133775558G>C | CA354610463 | TF | c.1813G>C (p.Ala605Pro) c.544G>C n.2807G>C c.1681G>C (p.Ala561Pro) c.1432G>C (p.Ala478Pro) | |
3 | g.133775558G= | CA1403122852 | TF | c.1813G= (p.Ala605=) c.544G= n.2807G= c.1681G= (p.Ala561=) c.1432G= (p.Ala478=) | |
3 | g.133775558G>T | CA354610464 | TF | c.1813G>T (p.Ala605Ser) c.544G>T n.2807G>T c.1681G>T (p.Ala561Ser) c.1432G>T (p.Ala478Ser) | |
3 | g.133775559C>A | CA354610467 | TF | c.1814C>A (p.Ala605Asp) c.545C>A n.2808C>A c.1682C>A (p.Ala561Asp) c.1433C>A (p.Ala478Asp) | COSMIC |
3 | g.133775559C>G | CA354610466 | TF | c.1814C>G (p.Ala605Gly) c.545C>G n.2808C>G c.1682C>G (p.Ala561Gly) c.1433C>G (p.Ala478Gly) | |
3 | g.133775559C>T | CA354610465 | TF | c.1814C>T (p.Ala605Val) c.545C>T n.2808C>T c.1682C>T (p.Ala561Val) c.1433C>T (p.Ala478Val) | |
3 | g.133775560T>A | CA435815861 | TF | c.1815T>A (p.Ala605=) c.546T>A n.2809T>A c.1683T>A (p.Ala561=) c.1434T>A (p.Ala478=) | |
3 | g.133775560T>C | CA435815863 | TF | c.1815T>C (p.Ala605=) c.546T>C n.2809T>C c.1683T>C (p.Ala561=) c.1434T>C (p.Ala478=) | |
3 | g.133775560T>G | CA435815862 | TF | c.1815T>G (p.Ala605=) c.546T>G n.2809T>G c.1683T>G (p.Ala561=) c.1434T>G (p.Ala478=) | |
3 | g.133775561G>A | CA354610468 | TF | c.1816G>A (p.Val606Met) c.547G>A n.2810G>A c.1684G>A (p.Val562Met) c.1435G>A (p.Val479Met) | |
3 | g.133775561G>C | CA354610469 | TF | c.1816G>C (p.Val606Leu) c.547G>C n.2810G>C c.1684G>C (p.Val562Leu) c.1435G>C (p.Val479Leu) | |
3 | g.133775561G>T | CA354610470 | TF | c.1816G>T (p.Val606Leu) c.547G>T n.2810G>T c.1684G>T (p.Val562Leu) c.1435G>T (p.Val479Leu) | |
3 | g.133775562T>A | CA354610471 | TF | c.1817T>A (p.Val606Glu) c.548T>A n.2811T>A c.1685T>A (p.Val562Glu) c.1436T>A (p.Val479Glu) | |
3 | g.133775562T>C | CA354610472 | TF | c.1817T>C (p.Val606Ala) c.548T>C n.2811T>C c.1685T>C (p.Val562Ala) c.1436T>C (p.Val479Ala) | dbSNP gnomAD v4 |
3 | g.133775562T>G | CA354610473 | TF | c.1817T>G (p.Val606Gly) c.548T>G n.2811T>G c.1685T>G (p.Val562Gly) c.1436T>G (p.Val479Gly) | |
3 | g.133775563G>A | CA435815864 | TF | c.1818G>A (p.Val606=) c.549G>A n.2812G>A c.1686G>A (p.Val562=) c.1437G>A (p.Val479=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.133775563G>C | CA435815865 | TF | c.1818G>C (p.Val606=) c.549G>C n.2812G>C c.1686G>C (p.Val562=) c.1437G>C (p.Val479=) | |
3 | g.133775563G= | CA1403122857 | TF | c.1818G= (p.Val606=) c.549G= n.2812G= c.1686G= (p.Val562=) c.1437G= (p.Val479=) | |
3 | g.133775563G>T | CA435815866 | TF | c.1818G>T (p.Val606=) c.549G>T n.2812G>T c.1686G>T (p.Val562=) c.1437G>T (p.Val479=) | |
3 | g.133775565_133775572dup | CA2833861594 | TF | c.1820_1827dup (p.Lys610SerfsTer25) c.551_558dup n.2814_2821dup c.1688_1695dup (p.Lys566SerfsTer25) c.1439_1446dup (p.Lys483SerfsTer25) | |
3 | g.133775564G>A | CA354610474 | TF | c.1819G>A (p.Val607Ile) c.550G>A n.2813G>A c.1687G>A (p.Val563Ile) c.1438G>A (p.Val480Ile) | |
3 | g.133775564G>C | CA354610476 | TF | c.1819G>C (p.Val607Leu) c.550G>C n.2813G>C c.1687G>C (p.Val563Leu) c.1438G>C (p.Val480Leu) | gnomAD v4 |
3 | g.133775564G>T | CA354610475 | TF | c.1819G>T (p.Val607Phe) c.550G>T n.2813G>T c.1687G>T (p.Val563Phe) c.1438G>T (p.Val480Phe) | |
3 | g.133775565T>A | CA354610477 | TF | c.1820T>A (p.Val607Asp) c.551T>A n.2814T>A c.1688T>A (p.Val563Asp) c.1439T>A (p.Val480Asp) | |
3 | g.133775565T>C | CA354610478 | TF | c.1820T>C (p.Val607Ala) c.551T>C n.2814T>C c.1688T>C (p.Val563Ala) c.1439T>C (p.Val480Ala) | |
3 | g.133775565T>G | CA354610479 | TF | c.1820T>G (p.Val607Gly) c.551T>G n.2814T>G c.1688T>G (p.Val563Gly) c.1439T>G (p.Val480Gly) | |
3 | g.133775566C>A | CA2625418 | TF | c.1821C>A (p.Val607=) c.552C>A n.2815C>A c.1689C>A (p.Val563=) c.1440C>A (p.Val480=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775566C= | CA1403122872 | TF | c.1821C= (p.Val607=) c.552C= n.2815C= c.1689C= (p.Val563=) c.1440C= (p.Val480=) | |
3 | g.133775566C>G | CA435815867 | TF | c.1821C>G (p.Val607=) c.552C>G n.2815C>G c.1689C>G (p.Val563=) c.1440C>G (p.Val480=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775566C>T | CA435815868 | TF | c.1821C>T (p.Val607=) c.552C>T n.2815C>T c.1689C>T (p.Val563=) c.1440C>T (p.Val480=) | |
3 | g.133775567A>C | CA354610480 | TF | c.1822A>C (p.Thr608Pro) c.553A>C n.2816A>C c.1690A>C (p.Thr564Pro) c.1441A>C (p.Thr481Pro) | |
3 | g.133775567A>G | CA354610481 | TF | c.1822A>G (p.Thr608Ala) c.553A>G n.2816A>G c.1690A>G (p.Thr564Ala) c.1441A>G (p.Thr481Ala) | |
3 | g.133775567A>T | CA354610482 | TF | c.1822A>T (p.Thr608Ser) c.553A>T n.2816A>T c.1690A>T (p.Thr564Ser) c.1441A>T (p.Thr481Ser) | |
3 | g.133775568C>A | CA354610483 | TF | c.1823C>A (p.Thr608Lys) c.554C>A n.2817C>A c.1691C>A (p.Thr564Lys) c.1442C>A (p.Thr481Lys) | |
3 | g.133775568C>G | CA354610484 | TF | c.1823C>G (p.Thr608Arg) c.554C>G n.2817C>G c.1691C>G (p.Thr564Arg) c.1442C>G (p.Thr481Arg) | |
3 | g.133775568C>T | CA354610485 | TF | c.1823C>T (p.Thr608Ile) c.554C>T n.2817C>T c.1691C>T (p.Thr564Ile) c.1442C>T (p.Thr481Ile) | |
3 | g.133775569A>C | CA435815869 | TF | c.1824A>C (p.Thr608=) c.555A>C n.2818A>C c.1692A>C (p.Thr564=) c.1443A>C (p.Thr481=) | |
3 | g.133775569A>G | CA435815870 | TF | c.1824A>G (p.Thr608=) c.555A>G n.2818A>G c.1692A>G (p.Thr564=) c.1443A>G (p.Thr481=) | |
3 | g.133775569A>T | CA435815871 | TF | c.1824A>T (p.Thr608=) c.555A>T n.2818A>T c.1692A>T (p.Thr564=) c.1443A>T (p.Thr481=) | |
3 | g.133775570C>A | CA2625419 | TF | c.1825C>A (p.Arg609=) c.556C>A n.2819C>A c.1693C>A (p.Arg565=) c.1444C>A (p.Arg482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775570C= | CA1403122884 | TF | c.1825C= (p.Arg609=) c.556C= n.2819C= c.1693C= (p.Arg565=) c.1444C= (p.Arg482=) | |
3 | g.133775570C>G | CA354610486 | TF | c.1825C>G (p.Arg609Gly) c.556C>G n.2819C>G c.1693C>G (p.Arg565Gly) c.1444C>G (p.Arg482Gly) | |
3 | g.133775570C>T | CA211198 | TF | c.1825C>T (p.Arg609Trp) c.556C>T n.2819C>T c.1693C>T (p.Arg565Trp) c.1444C>T (p.Arg482Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775571G>A | CA354610487 | TF | c.1826G>A (p.Arg609Gln) c.557G>A n.2820G>A c.1694G>A (p.Arg565Gln) c.1445G>A (p.Arg482Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775571G>C | CA354610488 | TF | c.1826G>C (p.Arg609Pro) c.557G>C n.2820G>C c.1694G>C (p.Arg565Pro) c.1445G>C (p.Arg482Pro) | |
3 | g.133775571G= | CA1403122896 | TF | c.1826G= (p.Arg609=) c.557G= n.2820G= c.1694G= (p.Arg565=) c.1445G= (p.Arg482=) | |
3 | g.133775571G>T | CA354610489 | TF | c.1826G>T (p.Arg609Leu) c.557G>T n.2820G>T c.1694G>T (p.Arg565Leu) c.1445G>T (p.Arg482Leu) | |
3 | g.133775572G>A | CA83693015 | TF | c.1827G>A (p.Arg609=) c.558G>A n.2821G>A c.1695G>A (p.Arg565=) c.1446G>A (p.Arg482=) | dbSNP |
3 | g.133775572G>C | CA435815872 | TF | c.1827G>C (p.Arg609=) c.558G>C n.2821G>C c.1695G>C (p.Arg565=) c.1446G>C (p.Arg482=) | |
3 | g.133775572G= | CA1403122902 | TF | c.1827G= (p.Arg609=) c.558G= n.2821G= c.1695G= (p.Arg565=) c.1446G= (p.Arg482=) | |
3 | g.133775572G>T | CA435815873 | TF | c.1827G>T (p.Arg609=) c.558G>T n.2821G>T c.1695G>T (p.Arg565=) c.1446G>T (p.Arg482=) | |
3 | g.133775573A>C | CA354610490 | TF | c.1828A>C (p.Lys610Gln) c.559A>C n.2822A>C c.1696A>C (p.Lys566Gln) c.1447A>C (p.Lys483Gln) | |
3 | g.133775573A>G | CA354610491 | TF | c.1828A>G (p.Lys610Glu) c.559A>G n.2822A>G c.1696A>G (p.Lys566Glu) c.1447A>G (p.Lys483Glu) | gnomAD v4 |
3 | g.133775573A>T | CA354610492 | TF | c.1828A>T (p.Lys610Ter) c.559A>T n.2822A>T c.1696A>T (p.Lys566Ter) c.1447A>T (p.Lys483Ter) | |
3 | g.133775574A>C | CA354610493 | TF | c.1829A>C (p.Lys610Thr) c.560A>C n.2823A>C c.1697A>C (p.Lys566Thr) c.1448A>C (p.Lys483Thr) | |
3 | g.133775574A>G | CA354610494 | TF | c.1829A>G (p.Lys610Arg) c.560A>G n.2823A>G c.1697A>G (p.Lys566Arg) c.1448A>G (p.Lys483Arg) | |
3 | g.133775574A>T | CA354610495 | TF | c.1829A>T (p.Lys610Ile) c.560A>T n.2823A>T c.1697A>T (p.Lys566Ile) c.1448A>T (p.Lys483Ile) | |
3 | g.133775575A= | CA1403122905 | TF | c.1830A= (p.Lys610=) c.561A= n.2824A= c.1698A= (p.Lys566=) c.1449A= (p.Lys483=) | |
3 | g.133775575A>C | CA354610496 | TF | c.1830A>C (p.Lys610Asn) c.561A>C n.2824A>C c.1698A>C (p.Lys566Asn) c.1449A>C (p.Lys483Asn) | |
3 | g.133775575A>G | CA2625420 | TF | c.1830A>G (p.Lys610=) c.561A>G n.2824A>G c.1698A>G (p.Lys566=) c.1449A>G (p.Lys483=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775575A>T | CA354610497 | TF | c.1830A>T (p.Lys610Asn) c.561A>T n.2824A>T c.1698A>T (p.Lys566Asn) c.1449A>T (p.Lys483Asn) | |
3 | g.133775576G>A | CA354610499 | TF | c.1831G>A (p.Asp611Asn) c.562G>A n.2825G>A c.1699G>A (p.Asp567Asn) c.1450G>A (p.Asp484Asn) | dbSNP |
3 | g.133775576G>C | CA354610500 | TF | c.1831G>C (p.Asp611His) c.562G>C n.2825G>C c.1699G>C (p.Asp567His) c.1450G>C (p.Asp484His) | |
3 | g.133775576G= | CA1403122909 | TF | c.1831G= (p.Asp611=) c.562G= n.2825G= c.1699G= (p.Asp567=) c.1450G= (p.Asp484=) | |
3 | g.133775576G>T | CA354610498 | TF | c.1831G>T (p.Asp611Tyr) c.562G>T n.2825G>T c.1699G>T (p.Asp567Tyr) c.1450G>T (p.Asp484Tyr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133775577A>C | CA354610501 | TF | c.1832A>C (p.Asp611Ala) c.563A>C n.2826A>C c.1700A>C (p.Asp567Ala) c.1451A>C (p.Asp484Ala) | |
3 | g.133775577A>G | CA354610502 | TF | c.1832A>G (p.Asp611Gly) c.563A>G n.2826A>G c.1700A>G (p.Asp567Gly) c.1451A>G (p.Asp484Gly) | |
3 | g.133775577A>T | CA354610503 | TF | c.1832A>T (p.Asp611Val) c.563A>T n.2826A>T c.1700A>T (p.Asp567Val) c.1451A>T (p.Asp484Val) | |
3 | g.133775578T>A | CA354610504 | TF | c.1833T>A (p.Asp611Glu) c.564T>A n.2827T>A c.1701T>A (p.Asp567Glu) c.1452T>A (p.Asp484Glu) | |
3 | g.133775578T>C | CA435815874 | TF | c.1833T>C (p.Asp611=) c.564T>C n.2827T>C c.1701T>C (p.Asp567=) c.1452T>C (p.Asp484=) | ClinVar |
3 | g.133775578T>G | CA354610505 | TF | c.1833T>G (p.Asp611Glu) c.564T>G n.2827T>G c.1701T>G (p.Asp567Glu) c.1452T>G (p.Asp484Glu) | |
3 | g.133775578_133775579delinsTA | CA1403122915 | TF | c.1833_1834delinsTA (p.Asp611=) c.564_565delinsTA n.2827_2828delinsTA c.1701_1702delinsTA (p.Asp567=) c.1452_1453delinsTA (p.Asp484=) | |
3 | g.133775579A>C | CA354610508 | TF | c.1834A>C (p.Lys612Gln) c.565A>C n.2828A>C c.1702A>C (p.Lys568Gln) c.1453A>C (p.Lys485Gln) | |
3 | g.133775579A>G | CA354610506 | TF | c.1834A>G (p.Lys612Glu) c.565A>G n.2828A>G c.1702A>G (p.Lys568Glu) c.1453A>G (p.Lys485Glu) | |
3 | g.133775579A>T | CA354610507 | TF | c.1834A>T (p.Lys612Ter) c.565A>T n.2828A>T c.1702A>T (p.Lys568Ter) c.1453A>T (p.Lys485Ter) | |
3 | g.133775580del | CA1053735593 | TF | c.1835del (p.Lys612ArgfsTer20) c.566del n.2829del c.1703del (p.Lys568ArgfsTer20) c.1454del (p.Lys485ArgfsTer20) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133775580A>C | CA354610509 | TF | c.1835A>C (p.Lys612Thr) c.566A>C n.2829A>C c.1703A>C (p.Lys568Thr) c.1454A>C (p.Lys485Thr) | |
3 | g.133775580A>G | CA354610510 | TF | c.1835A>G (p.Lys612Arg) c.566A>G n.2829A>G c.1703A>G (p.Lys568Arg) c.1454A>G (p.Lys485Arg) | |
3 | g.133775580A>T | CA354610511 | TF | c.1835A>T (p.Lys612Met) c.566A>T n.2829A>T c.1703A>T (p.Lys568Met) c.1454A>T (p.Lys485Met) | |
3 | g.133775581G>A | CA435815875 | TF | c.1836G>A (p.Lys612=) c.567G>A n.2830G>A c.1704G>A (p.Lys568=) c.1455G>A (p.Lys485=) | ClinVar |
3 | g.133775581G>C | CA354610512 | TF | c.1836G>C (p.Lys612Asn) c.567G>C n.2830G>C c.1704G>C (p.Lys568Asn) c.1455G>C (p.Lys485Asn) | |
3 | g.133775581G>T | CA354610513 | TF | c.1836G>T (p.Lys612Asn) c.567G>T n.2830G>T c.1704G>T (p.Lys568Asn) c.1455G>T (p.Lys485Asn) | |
3 | g.133775582G>A | CA354610516 | TF | c.1837G>A (p.Glu613Lys) c.568G>A n.2831G>A c.1705G>A (p.Glu569Lys) c.1456G>A (p.Glu486Lys) | |
3 | g.133775582G>C | CA354610515 | TF | c.1837G>C (p.Glu613Gln) c.568G>C n.2831G>C c.1705G>C (p.Glu569Gln) c.1456G>C (p.Glu486Gln) | |
3 | g.133775582G>T | CA354610514 | TF | c.1837G>T (p.Glu613Ter) c.568G>T n.2831G>T c.1705G>T (p.Glu569Ter) c.1456G>T (p.Glu486Ter) | |
3 | g.133775583A>C | CA354610517 | TF | c.1838A>C (p.Glu613Ala) c.569A>C n.2832A>C c.1706A>C (p.Glu569Ala) c.1457A>C (p.Glu486Ala) | |
3 | g.133775583A>G | CA354610519 | TF | c.1838A>G (p.Glu613Gly) c.569A>G n.2832A>G c.1706A>G (p.Glu569Gly) c.1457A>G (p.Glu486Gly) | |
3 | g.133775583A>T | CA354610518 | TF | c.1838A>T (p.Glu613Val) c.569A>T n.2832A>T c.1706A>T (p.Glu569Val) c.1457A>T (p.Glu486Val) | |
3 | g.133775584A>C | CA354610520 | TF | c.1839A>C (p.Glu613Asp) c.570A>C n.2833A>C c.1707A>C (p.Glu569Asp) c.1458A>C (p.Glu486Asp) | |
3 | g.133775584A>G | CA435815876 | TF | c.1839A>G (p.Glu613=) c.570A>G n.2833A>G c.1707A>G (p.Glu569=) c.1458A>G (p.Glu486=) | |
3 | g.133775584A>T | CA354610521 | TF | c.1839A>T (p.Glu613Asp) c.570A>T n.2833A>T c.1707A>T (p.Glu569Asp) c.1458A>T (p.Glu486Asp) | |
3 | g.133775585G>A | CA354610522 | TF | c.1840G>A (p.Ala614Thr) c.571G>A n.2834G>A c.1708G>A (p.Ala570Thr) c.1459G>A (p.Ala487Thr) | |
3 | g.133775585G>C | CA354610523 | TF | c.1840G>C (p.Ala614Pro) c.571G>C n.2834G>C c.1708G>C (p.Ala570Pro) c.1459G>C (p.Ala487Pro) | |
3 | g.133775585G>T | CA354610524 | TF | c.1840G>T (p.Ala614Ser) c.571G>T n.2834G>T c.1708G>T (p.Ala570Ser) c.1459G>T (p.Ala487Ser) | |
3 | g.133775586C>A | CA354610525 | TF | c.1841C>A (p.Ala614Asp) c.572C>A n.2835C>A c.1709C>A (p.Ala570Asp) c.1460C>A (p.Ala487Asp) | |
3 | g.133775586C= | CA1403122918 | TF | c.1841C= (p.Ala614=) c.572C= n.2835C= c.1709C= (p.Ala570=) c.1460C= (p.Ala487=) | |
3 | g.133775586C>G | CA354610526 | TF | c.1841C>G (p.Ala614Gly) c.572C>G n.2835C>G c.1709C>G (p.Ala570Gly) c.1460C>G (p.Ala487Gly) | dbSNP |
3 | g.133775586C>T | CA354610527 | TF | c.1841C>T (p.Ala614Val) c.572C>T n.2835C>T c.1709C>T (p.Ala570Val) c.1460C>T (p.Ala487Val) | dbSNP |
3 | g.133775587T>A | CA435815877 | TF | c.1842T>A (p.Ala614=) c.573T>A n.2836T>A c.1710T>A (p.Ala570=) c.1461T>A (p.Ala487=) | |
3 | g.133775587T>C | CA435815879 | TF | c.1842T>C (p.Ala614=) c.573T>C n.2836T>C c.1710T>C (p.Ala570=) c.1461T>C (p.Ala487=) | |
3 | g.133775587T>G | CA435815878 | TF | c.1842T>G (p.Ala614=) c.573T>G n.2836T>G c.1710T>G (p.Ala570=) c.1461T>G (p.Ala487=) | |
3 | g.133775588T>A | CA354610528 | TF | c.1843T>A (p.Cys615Ser) c.574T>A n.2837T>A c.1711T>A (p.Cys571Ser) c.1462T>A (p.Cys488Ser) | |
3 | g.133775588T>C | CA354610529 | TF | c.1843T>C (p.Cys615Arg) c.574T>C n.2837T>C c.1711T>C (p.Cys571Arg) c.1462T>C (p.Cys488Arg) | |
3 | g.133775588T>G | CA354610530 | TF | c.1843T>G (p.Cys615Gly) c.574T>G n.2837T>G c.1711T>G (p.Cys571Gly) c.1462T>G (p.Cys488Gly) | |
3 | g.133775589G>A | CA354610531 | TF | c.1844G>A (p.Cys615Tyr) c.575G>A n.2838G>A c.1712G>A (p.Cys571Tyr) c.1463G>A (p.Cys488Tyr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133775589G>C | CA354610532 | TF | c.1844G>C (p.Cys615Ser) c.575G>C n.2838G>C c.1712G>C (p.Cys571Ser) c.1463G>C (p.Cys488Ser) | |
3 | g.133775589G= | CA1403122921 | TF | c.1844G= (p.Cys615=) c.575G= n.2838G= c.1712G= (p.Cys571=) c.1463G= (p.Cys488=) | |
3 | g.133775589G>T | CA354610533 | TF | c.1844G>T (p.Cys615Phe) c.575G>T n.2838G>T c.1712G>T (p.Cys571Phe) c.1463G>T (p.Cys488Phe) | |
3 | g.133775590C>A | CA354610535 | TF | c.1845C>A (p.Cys615Ter) c.576C>A n.2839C>A c.1713C>A (p.Cys571Ter) c.1464C>A (p.Cys488Ter) | gnomAD v4 |
3 | g.133775590C= | CA1403122927 | TF | c.1845C= (p.Cys615=) c.576C= n.2839C= c.1713C= (p.Cys571=) c.1464C= (p.Cys488=) | |
3 | g.133775590C>G | CA354610534 | TF | c.1845C>G (p.Cys615Trp) c.576C>G n.2839C>G c.1713C>G (p.Cys571Trp) c.1464C>G (p.Cys488Trp) | |
3 | g.133775590C>T | CA2625421 | TF | c.1845C>T (p.Cys615=) c.576C>T n.2839C>T c.1713C>T (p.Cys571=) c.1464C>T (p.Cys488=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775591G>A | CA83693023 | TF | c.1846G>A (p.Val616Ile) c.577G>A n.2840G>A c.1714G>A (p.Val572Ile) c.1465G>A (p.Val489Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.133775591G>C | CA354610536 | TF | c.1846G>C (p.Val616Leu) c.577G>C n.2840G>C c.1714G>C (p.Val572Leu) c.1465G>C (p.Val489Leu) | |
3 | g.133775591G= | CA1403122932 | TF | c.1846G= (p.Val616=) c.577G= n.2840G= c.1714G= (p.Val572=) c.1465G= (p.Val489=) | |
3 | g.133775591G>T | CA354610537 | TF | c.1846G>T (p.Val616Phe) c.577G>T n.2840G>T c.1714G>T (p.Val572Phe) c.1465G>T (p.Val489Phe) | dbSNP COSMIC |
3 | g.133775592T>A | CA354610538 | TF | c.1847T>A (p.Val616Asp) c.578T>A n.2841T>A c.1715T>A (p.Val572Asp) c.1466T>A (p.Val489Asp) | |
3 | g.133775592T>C | CA354610539 | TF | c.1847T>C (p.Val616Ala) c.578T>C n.2841T>C c.1715T>C (p.Val572Ala) c.1466T>C (p.Val489Ala) | |
3 | g.133775592T>G | CA354610540 | TF | c.1847T>G (p.Val616Gly) c.578T>G n.2841T>G c.1715T>G (p.Val572Gly) c.1466T>G (p.Val489Gly) | |
3 | g.133775593C>A | CA435815880 | TF | c.1848C>A (p.Val616=) c.579C>A n.2842C>A c.1716C>A (p.Val572=) c.1467C>A (p.Val489=) | |
3 | g.133775593C>G | CA435815881 | TF | c.1848C>G (p.Val616=) c.579C>G n.2842C>G c.1716C>G (p.Val572=) c.1467C>G (p.Val489=) | |
3 | g.133775593C>T | CA435815882 | TF | c.1848C>T (p.Val616=) c.579C>T n.2842C>T c.1716C>T (p.Val572=) c.1467C>T (p.Val489=) | |
3 | g.133775594C>A | CA354610541 | TF | c.1849C>A (p.His617Asn) c.580C>A n.2843C>A c.1717C>A (p.His573Asn) c.1468C>A (p.His490Asn) | |
3 | g.133775594C>G | CA354610542 | TF | c.1849C>G (p.His617Asp) c.580C>G n.2843C>G c.1717C>G (p.His573Asp) c.1468C>G (p.His490Asp) | |
3 | g.133775594C>T | CA354610543 | TF | c.1849C>T (p.His617Tyr) c.580C>T n.2843C>T c.1717C>T (p.His573Tyr) c.1468C>T (p.His490Tyr) | |
3 | g.133775595A= | CA1403122938 | TF | c.1850A= (p.His617=) c.581A= n.2844A= c.1718A= (p.His573=) c.1469A= (p.His490=) | |
3 | g.133775595A>C | CA354610544 | TF | c.1850A>C (p.His617Pro) c.581A>C n.2844A>C c.1718A>C (p.His573Pro) c.1469A>C (p.His490Pro) | |
3 | g.133775595A>G | CA354610545 | TF | c.1850A>G (p.His617Arg) c.581A>G n.2844A>G c.1718A>G (p.His573Arg) c.1469A>G (p.His490Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775595A>T | CA354610546 | TF | c.1850A>T (p.His617Leu) c.581A>T n.2844A>T c.1718A>T (p.His573Leu) c.1469A>T (p.His490Leu) | |
3 | g.133775596C>A | CA354610547 | TF | c.1851C>A (p.His617Gln) c.582C>A n.2845C>A c.1719C>A (p.His573Gln) c.1470C>A (p.His490Gln) | |
3 | g.133775596C>G | CA354610548 | TF | c.1851C>G (p.His617Gln) c.582C>G n.2845C>G c.1719C>G (p.His573Gln) c.1470C>G (p.His490Gln) | |
3 | g.133775596C>T | CA435815883 | TF | c.1851C>T (p.His617=) c.582C>T n.2845C>T c.1719C>T (p.His573=) c.1470C>T (p.His490=) | |
3 | g.133775597A>C | CA354610549 | TF | c.1852A>C (p.Lys618Gln) c.583A>C n.2846A>C c.1720A>C (p.Lys574Gln) c.1471A>C (p.Lys491Gln) | |
3 | g.133775597A>G | CA354610550 | TF | c.1852A>G (p.Lys618Glu) c.583A>G n.2846A>G c.1720A>G (p.Lys574Glu) c.1471A>G (p.Lys491Glu) | |
3 | g.133775597A>T | CA354610551 | TF | c.1852A>T (p.Lys618Ter) c.583A>T n.2846A>T c.1720A>T (p.Lys574Ter) c.1471A>T (p.Lys491Ter) | |
3 | g.133775598A>C | CA354610552 | TF | c.1853A>C (p.Lys618Thr) c.584A>C n.2847A>C c.1721A>C (p.Lys574Thr) c.1472A>C (p.Lys491Thr) | |
3 | g.133775598A>G | CA354610553 | TF | c.1853A>G (p.Lys618Arg) c.584A>G n.2847A>G c.1721A>G (p.Lys574Arg) c.1472A>G (p.Lys491Arg) | |
3 | g.133775598A>T | CA354610554 | TF | c.1853A>T (p.Lys618Met) c.584A>T n.2847A>T c.1721A>T (p.Lys574Met) c.1472A>T (p.Lys491Met) | |
3 | g.133775599G>A | CA435815884 | TF | c.1854G>A (p.Lys618=) c.585G>A n.2848G>A c.1722G>A (p.Lys574=) c.1473G>A (p.Lys491=) | |
3 | g.133775599G>C | CA354610555 | TF | c.1854G>C (p.Lys618Asn) c.585G>C n.2848G>C c.1722G>C (p.Lys574Asn) c.1473G>C (p.Lys491Asn) | |
3 | g.133775599G>T | CA354610556 | TF | c.1854G>T (p.Lys618Asn) c.585G>T n.2848G>T c.1722G>T (p.Lys574Asn) c.1473G>T (p.Lys491Asn) | |
3 | g.133775600A>C | CA354610557 | TF | c.1855A>C (p.Ile619Leu) c.586A>C n.2849A>C c.1723A>C (p.Ile575Leu) c.1474A>C (p.Ile492Leu) | |
3 | g.133775600A>G | CA354610558 | TF | c.1855A>G (p.Ile619Val) c.586A>G n.2849A>G c.1723A>G (p.Ile575Val) c.1474A>G (p.Ile492Val) | gnomAD v4 COSMIC |
3 | g.133775600A>T | CA354610559 | TF | c.1855A>T (p.Ile619Leu) c.586A>T n.2849A>T c.1723A>T (p.Ile575Leu) c.1474A>T (p.Ile492Leu) | |
3 | g.133775601T>A | CA354610562 | TF | c.1856T>A (p.Ile619Lys) c.587T>A n.2850T>A c.1724T>A (p.Ile575Lys) c.1475T>A (p.Ile492Lys) | |
3 | g.133775601T>C | CA354610561 | TF | c.1856T>C (p.Ile619Thr) c.587T>C n.2850T>C c.1724T>C (p.Ile575Thr) c.1475T>C (p.Ile492Thr) | |
3 | g.133775601T>G | CA354610560 | TF | c.1856T>G (p.Ile619Arg) c.587T>G n.2850T>G c.1724T>G (p.Ile575Arg) c.1475T>G (p.Ile492Arg) | |
3 | g.133775602A= | CA1403122942 | TF | c.1857A= (p.Ile619=) c.588A= n.2851A= c.1725A= (p.Ile575=) c.1476A= (p.Ile492=) | |
3 | g.133775602A>C | CA435815885 | TF | c.1857A>C (p.Ile619=) c.588A>C n.2851A>C c.1725A>C (p.Ile575=) c.1476A>C (p.Ile492=) | |
3 | g.133775602A>G | CA354610563 | TF | c.1857A>G (p.Ile619Met) c.588A>G n.2851A>G c.1725A>G (p.Ile575Met) c.1476A>G (p.Ile492Met) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133775602A>T | CA2625422 | TF | c.1857A>T (p.Ile619=) c.588A>T n.2851A>T c.1725A>T (p.Ile575=) c.1476A>T (p.Ile492=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775603T>A | CA354610564 | TF | c.1858T>A (p.Leu620Ile) c.589T>A n.2852T>A c.1726T>A (p.Leu576Ile) c.1477T>A (p.Leu493Ile) | |
3 | g.133775603T>C | CA435815886 | TF | c.1858T>C (p.Leu620=) c.589T>C n.2852T>C c.1726T>C (p.Leu576=) c.1477T>C (p.Leu493=) | ClinVar gnomAD v4 |
3 | g.133775603T>G | CA354610565 | TF | c.1858T>G (p.Leu620Val) c.589T>G n.2852T>G c.1726T>G (p.Leu576Val) c.1477T>G (p.Leu493Val) | |
3 | g.133775604T>A | CA354610566 | TF | c.1859T>A (p.Leu620Ter) c.590T>A n.2853T>A c.1727T>A (p.Leu576Ter) c.1478T>A (p.Leu493Ter) | |
3 | g.133775604T>C | CA354610567 | TF | c.1859T>C (p.Leu620Ser) c.590T>C n.2853T>C c.1727T>C (p.Leu576Ser) c.1478T>C (p.Leu493Ser) | |
3 | g.133775604T>G | CA354610568 | TF | c.1859T>G (p.Leu620Ter) c.590T>G n.2853T>G c.1727T>G (p.Leu576Ter) c.1478T>G (p.Leu493Ter) | |
3 | g.133775605A= | CA1403122947 | TF | c.1860A= (p.Leu620=) c.591A= n.2854A= c.1728A= (p.Leu576=) c.1479A= (p.Leu493=) | |
3 | g.133775605A>C | CA83693027 | TF | c.1860A>C (p.Leu620Phe) c.591A>C n.2854A>C c.1728A>C (p.Leu576Phe) c.1479A>C (p.Leu493Phe) | dbSNP |
3 | g.133775605A>G | CA435815887 | TF | c.1860A>G (p.Leu620=) c.591A>G n.2854A>G c.1728A>G (p.Leu576=) c.1479A>G (p.Leu493=) | |
3 | g.133775605A>T | CA354610569 | TF | c.1860A>T (p.Leu620Phe) c.591A>T n.2854A>T c.1728A>T (p.Leu576Phe) c.1479A>T (p.Leu493Phe) | |
3 | g.133775606C>A | CA354610571 | TF | c.1861C>A (p.Arg621Ser) c.592C>A n.2855C>A c.1729C>A (p.Arg577Ser) c.1480C>A (p.Arg494Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775606C= | CA1403122950 | TF | c.1861C= (p.Arg621=) c.592C= n.2855C= c.1729C= (p.Arg577=) c.1480C= (p.Arg494=) | |
3 | g.133775606C>G | CA354610573 | TF | c.1861C>G (p.Arg621Gly) c.592C>G n.2855C>G c.1729C>G (p.Arg577Gly) c.1480C>G (p.Arg494Gly) | |
3 | g.133775606C>T | CA2625423 | TF | c.1861C>T (p.Arg621Cys) c.592C>T n.2855C>T c.1729C>T (p.Arg577Cys) c.1480C>T (p.Arg494Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775607G>A | CA2625424 | TF | c.1862G>A (p.Arg621His) c.593G>A n.2856G>A c.1730G>A (p.Arg577His) c.1481G>A (p.Arg494His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775607G>C | CA354610579 | TF | c.1862G>C (p.Arg621Pro) c.593G>C n.2856G>C c.1730G>C (p.Arg577Pro) c.1481G>C (p.Arg494Pro) | |
3 | g.133775607G= | CA1403122958 | TF | c.1862G= (p.Arg621=) c.593G= n.2856G= c.1730G= (p.Arg577=) c.1481G= (p.Arg494=) | |
3 | g.133775607G>T | CA354610577 | TF | c.1862G>T (p.Arg621Leu) c.593G>T n.2856G>T c.1730G>T (p.Arg577Leu) c.1481G>T (p.Arg494Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775608T>A | CA435815888 | TF | c.1863T>A (p.Arg621=) c.594T>A n.2857T>A c.1731T>A (p.Arg577=) c.1482T>A (p.Arg494=) | dbSNP gnomAD v2 |
3 | g.133775608T>C | CA435815889 | TF | c.1863T>C (p.Arg621=) c.594T>C n.2857T>C c.1731T>C (p.Arg577=) c.1482T>C (p.Arg494=) | |
3 | g.133775608T>G | CA435815890 | TF | c.1863T>G (p.Arg621=) c.594T>G n.2857T>G c.1731T>G (p.Arg577=) c.1482T>G (p.Arg494=) | |
3 | g.133775608T= | CA1403122966 | TF | c.1863T= (p.Arg621=) c.594T= n.2857T= c.1731T= (p.Arg577=) c.1482T= (p.Arg494=) | |
3 | g.133775609C>A | CA354610583 | TF | c.1864C>A (p.Gln622Lys) c.595C>A n.2858C>A c.1732C>A (p.Gln578Lys) c.1483C>A (p.Gln495Lys) | |
3 | g.133775609C>G | CA354610586 | TF | c.1864C>G (p.Gln622Glu) c.595C>G n.2858C>G c.1732C>G (p.Gln578Glu) c.1483C>G (p.Gln495Glu) | |
3 | g.133775609C>T | CA354610584 | TF | c.1864C>T (p.Gln622Ter) c.595C>T n.2858C>T c.1732C>T (p.Gln578Ter) c.1483C>T (p.Gln495Ter) | |
3 | g.133775610A>C | CA354610589 | TF | c.1865A>C (p.Gln622Pro) c.596A>C n.2859A>C c.1733A>C (p.Gln578Pro) c.1484A>C (p.Gln495Pro) | |
3 | g.133775610A>G | CA354610590 | TF | c.1865A>G (p.Gln622Arg) c.596A>G n.2859A>G c.1733A>G (p.Gln578Arg) c.1484A>G (p.Gln495Arg) | |
3 | g.133775610A>T | CA354610591 | TF | c.1865A>T (p.Gln622Leu) c.596A>T n.2859A>T c.1733A>T (p.Gln578Leu) c.1484A>T (p.Gln495Leu) | |
3 | g.133775611A>C | CA354610592 | TF | c.1866A>C (p.Gln622His) c.597A>C n.2860A>C c.1734A>C (p.Gln578His) c.1485A>C (p.Gln495His) | |
3 | g.133775611A>G | CA435815891 | TF | c.1866A>G (p.Gln622=) c.597A>G n.2860A>G c.1734A>G (p.Gln578=) c.1485A>G (p.Gln495=) | gnomAD v4 |
3 | g.133775611A>T | CA354610593 | TF | c.1866A>T (p.Gln622His) c.597A>T n.2860A>T c.1734A>T (p.Gln578His) c.1485A>T (p.Gln495His) | |
3 | g.133775612C>A | CA354610597 | TF | c.1867C>A (p.Gln623Lys) c.598C>A n.2861C>A c.1735C>A (p.Gln579Lys) c.1486C>A (p.Gln496Lys) | gnomAD v4 COSMIC |
3 | g.133775612C>G | CA354610598 | TF | c.1867C>G (p.Gln623Glu) c.598C>G n.2861C>G c.1735C>G (p.Gln579Glu) c.1486C>G (p.Gln496Glu) | |
3 | g.133775612C>T | CA354610600 | TF | c.1867C>T (p.Gln623Ter) c.598C>T n.2861C>T c.1735C>T (p.Gln579Ter) c.1486C>T (p.Gln496Ter) | |
3 | g.133775613A>C | CA354610602 | TF | c.1868A>C (p.Gln623Pro) c.599A>C n.2862A>C c.1736A>C (p.Gln579Pro) c.1487A>C (p.Gln496Pro) | |
3 | g.133775613A>G | CA354610603 | TF | c.1868A>G (p.Gln623Arg) c.599A>G n.2862A>G c.1736A>G (p.Gln579Arg) c.1487A>G (p.Gln496Arg) | |
3 | g.133775613A>T | CA354610605 | TF | c.1868A>T (p.Gln623Leu) c.599A>T n.2862A>T c.1736A>T (p.Gln579Leu) c.1487A>T (p.Gln496Leu) | |
3 | g.133775614G>A | CA435815892 | TF | c.1869G>A (p.Gln623=) c.600G>A n.2863G>A c.1737G>A (p.Gln579=) c.1488G>A (p.Gln496=) | |
3 | g.133775614G>C | CA354610607 | TF | c.1869G>C (p.Gln623His) c.600G>C n.2863G>C c.1737G>C (p.Gln579His) c.1488G>C (p.Gln496His) | |
3 | g.133775614G>T | CA354610609 | TF | c.1869G>T (p.Gln623His) c.600G>T n.2863G>T c.1737G>T (p.Gln579His) c.1488G>T (p.Gln496His) | |
3 | g.133775614_133775629delinsGCAGGTATGGACCAGC | CA1403122969 | TF | c.1869_1872+12delinsGCAGGTATGGACCAGC c.600_603+12delinsGCAGGTATGGACCAGC n.2863_2866+12delinsGCAGGTATGGACCAGC c.1737_1740+12delinsGCAGGTATGGACCAGC c.1488_1491+12delinsGCAGGTATGGACCAGC | |
3 | g.133775615del | CA2843554728 | TF | c.1870del (p.Gln624SerfsTer8) c.601del n.2864del c.1738del (p.Gln580SerfsTer8) c.1489del (p.Gln497SerfsTer8) | |
3 | g.133775615C>A | CA354610612 | TF | c.1870C>A (p.Gln624Lys) c.601C>A n.2864C>A c.1738C>A (p.Gln580Lys) c.1489C>A (p.Gln497Lys) | |
3 | g.133775615C= | CA1403122974 | TF | c.1870C= (p.Gln624=) c.601C= n.2864C= c.1738C= (p.Gln580=) c.1489C= (p.Gln497=) | |
3 | g.133775615C>G | CA2625425 | TF | c.1870C>G (p.Gln624Glu) c.601C>G n.2864C>G c.1738C>G (p.Gln580Glu) c.1489C>G (p.Gln497Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775615C>T | CA354610613 | TF | c.1870C>T (p.Gln624Ter) c.601C>T n.2864C>T c.1738C>T (p.Gln580Ter) c.1489C>T (p.Gln497Ter) | dbSNP gnomAD v4 |
3 | g.133775620_133775634del | CA917011696 | TF | c.1872+3_1872+17del c.603+3_603+17del n.2866+3_2866+17del c.1740+3_1740+17del c.1491+3_1491+17del | dbSNP gnomAD v4 |
3 | g.133775616del | CA2667772099 | TF | c.1871del (p.Gln624ArgfsTer8) c.602del n.2865del c.1739del (p.Gln580ArgfsTer8) c.1490del (p.Gln497ArgfsTer8) | gnomAD v4 |
3 | g.133775616A>C | CA354610617 | TF | c.1871A>C (p.Gln624Pro) c.602A>C n.2865A>C c.1739A>C (p.Gln580Pro) c.1490A>C (p.Gln497Pro) | |
3 | g.133775616A>G | CA354610619 | TF | c.1871A>G (p.Gln624Arg) c.602A>G n.2865A>G c.1739A>G (p.Gln580Arg) c.1490A>G (p.Gln497Arg) | |
3 | g.133775616A>T | CA354610620 | TF | c.1871A>T (p.Gln624Leu) c.602A>T n.2865A>T c.1739A>T (p.Gln580Leu) c.1490A>T (p.Gln497Leu) | |
3 | g.133775617G>A | CA435815893 | TF | c.1872G>A (p.Gln624=) c.603G>A n.2866G>A c.1740G>A (p.Gln580=) c.1491G>A (p.Gln497=) | |
3 | g.133775617G>C | CA354610623 | TF | c.1872G>C (p.Gln624His) c.603G>C n.2866G>C c.1740G>C (p.Gln580His) c.1491G>C (p.Gln497His) | |
3 | g.133775617G= | CA1403122977 | TF | c.1872G= (p.Gln624=) c.603G= n.2866G= c.1740G= (p.Gln580=) c.1491G= (p.Gln497=) | |
3 | g.133775617G>T | CA354610624 | TF | c.1872G>T (p.Gln624His) c.603G>T n.2866G>T c.1740G>T (p.Gln580His) c.1491G>T (p.Gln497His) | dbSNP |
3 | g.133775618G>A | CA354610625 | TF | c.1872+1G>A (n.1872+1G>A) c.603+1G>A n.2866+1G>A c.1740+1G>A (n.1740+1G>A) c.1491+1G>A (n.1491+1G>A) | |
3 | g.133775618G>C | CA2625426 | TF | c.1872+1G>C (n.1872+1G>C) c.603+1G>C n.2866+1G>C c.1740+1G>C (n.1740+1G>C) c.1491+1G>C (n.1491+1G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775618G= | CA1403122981 | TF | c.1872+1G= (n.1872+1G=) c.603+1G= n.2866+1G= c.1740+1G= (n.1740+1G=) c.1491+1G= (n.1491+1G=) | |
3 | g.133775618G>T | CA354610629 | TF | c.1872+1G>T (n.1872+1G>T) c.603+1G>T n.2866+1G>T c.1740+1G>T (n.1740+1G>T) c.1491+1G>T (n.1491+1G>T) | |
3 | g.133775619T>A | CA354610631 | TF | c.1872+2T>A (n.1872+2T>A) c.603+2T>A n.2866+2T>A c.1740+2T>A (n.1740+2T>A) c.1491+2T>A (n.1491+2T>A) | |
3 | g.133775619T>C | CA354610633 | TF | c.1872+2T>C (n.1872+2T>C) c.603+2T>C n.2866+2T>C c.1740+2T>C (n.1740+2T>C) c.1491+2T>C (n.1491+2T>C) | |
3 | g.133775619T>G | CA354610635 | TF | c.1872+2T>G (n.1872+2T>G) c.603+2T>G n.2866+2T>G c.1740+2T>G (n.1740+2T>G) c.1491+2T>G (n.1491+2T>G) | |
3 | g.133775620A= | CA1403122984 | TF | c.1872+3A= (n.1872+3A=) c.603+3A= n.2866+3A= c.1740+3A= (n.1740+3A=) c.1491+3A= (n.1491+3A=) | |
3 | g.133775620A>G | CA546420552 | TF | c.1872+3A>G (n.1872+3A>G) c.603+3A>G n.2866+3A>G c.1740+3A>G (n.1740+3A>G) c.1491+3A>G (n.1491+3A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775621T>C | CA2577907400 | TF | c.1872+4T>C (n.1872+4T>C) c.603+4T>C n.2866+4T>C c.1740+4T>C (n.1740+4T>C) c.1491+4T>C (n.1491+4T>C) | gnomAD v4 |
3 | g.133775621T= | CA1403122990 | TF | c.1872+4T= (n.1872+4T=) c.603+4T= n.2866+4T= c.1740+4T= (n.1740+4T=) c.1491+4T= (n.1491+4T=) | |
3 | g.133775621_133775622insCTGTTGGGA | CA546420553 | TF | c.1872+4_1872+5insCTGTTGGGA (n.1872+4_1872+5insCTGTTGGGA) c.603+4_603+5insCTGTTGGGA n.2866+4_2866+5insCTGTTGGGA c.1740+4_1740+5insCTGTTGGGA (n.1740+4_1740+5insCTGTTGGGA) c.1491+4_1491+5insCTGTTGGGA (n.1491+4_1491+5insCTGTTGGGA) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775622G>A | CA546420554 | TF | c.1872+5G>A (n.1872+5G>A) c.603+5G>A n.2866+5G>A c.1740+5G>A (n.1740+5G>A) c.1491+5G>A (n.1491+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775622G= | CA1403122999 | TF | c.1872+5G= (n.1872+5G=) c.603+5G= n.2866+5G= c.1740+5G= (n.1740+5G=) c.1491+5G= (n.1491+5G=) | |
3 | g.133775622G>T | CA645516350 | TF | c.1872+5G>T (n.1872+5G>T) c.603+5G>T n.2866+5G>T c.1740+5G>T (n.1740+5G>T) c.1491+5G>T (n.1491+5G>T) | COSMIC |