Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.127814982_127820052del | CA1139659920 | ClinVar | ||
9 | g.127815941A>C | CA374971473 | ENG | c.1306+2T>G (n.1306+2T>G) c.1852+2T>G (n.1852+2T>G) c.1854T>G (p.Arg618=) | |
9 | g.127815941A>G | CA374971476 | ENG | c.1306+2T>C (n.1306+2T>C) c.1852+2T>C (n.1852+2T>C) c.1854T>C (p.Arg618=) | gnomAD v4 |
9 | g.127815941A>T | CA374971488 | ENG | c.1306+2T>A (n.1306+2T>A) c.1852+2T>A (n.1852+2T>A) c.1854T>A (p.Arg618=) | |
9 | g.127815942C>A | CA374971491 | ENG | c.1306+1G>T (n.1306+1G>T) c.1852+1G>T (n.1852+1G>T) c.1853G>T (p.Arg618Leu) | gnomAD v4 |
9 | g.127815942C>G | CA374971499 | ENG | c.1306+1G>C (n.1306+1G>C) c.1852+1G>C (n.1852+1G>C) c.1853G>C (p.Arg618Pro) | ClinVar dbSNP |
9 | g.127815942C>T | CA374971500 | ENG | c.1306+1G>A (n.1306+1G>A) c.1852+1G>A (n.1852+1G>A) c.1853G>A (p.Arg618His) | gnomAD v4 |
9 | g.127815943G>A | CA374971519 | ENG | c.1306C>T (p.Arg436Cys) c.1852C>T (p.Arg618Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127815943G>C | CA374971515 | ENG | c.1306C>G (p.Arg436Gly) c.1852C>G (p.Arg618Gly) | ClinVar gnomAD v4 |
9 | g.127815943G= | CA1879981769 | ENG | c.1306C= (p.Arg436=) c.1852C= (p.Arg618=) | |
9 | g.127815943G>T | CA374971513 | ENG | c.1306C>A (p.Arg436Ser) c.1852C>A (p.Arg618Ser) | gnomAD v4 COSMIC COSMIC |
9 | g.127815944C>A | CA467474302 | ENG | c.1305G>T (p.Thr435=) c.1851G>T (p.Thr617=) | gnomAD v4 |
9 | g.127815944C= | CA1879981777 | ENG | c.1305G= (p.Thr435=) c.1851G= (p.Thr617=) | |
9 | g.127815944C>G | CA467474305 | ENG | c.1305G>C (p.Thr435=) c.1851G>C (p.Thr617=) | dbSNP |
9 | g.127815944C>T | CA5252619 | ENG | c.1305G>A (p.Thr435=) c.1851G>A (p.Thr617=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.127815945G>A | CA5252620 | ENG | c.1304C>T (p.Thr435Met) c.1850C>T (p.Thr617Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127815945G>C | CA374971523 | ENG | c.1304C>G (p.Thr435Arg) c.1850C>G (p.Thr617Arg) | |
9 | g.127815945G= | CA1879981787 | ENG | c.1304C= (p.Thr435=) c.1850C= (p.Thr617=) | |
9 | g.127815945G>T | CA5252621 | ENG | c.1304C>A (p.Thr435Lys) c.1850C>A (p.Thr617Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127815946T>A | CA374971529 | ENG | c.1303A>T (p.Thr435Ser) c.1849A>T (p.Thr617Ser) | |
9 | g.127815946T>C | CA374971530 | ENG | c.1303A>G (p.Thr435Ala) c.1849A>G (p.Thr617Ala) | |
9 | g.127815946T>G | CA374971531 | ENG | c.1303A>C (p.Thr435Pro) c.1849A>C (p.Thr617Pro) | |
9 | g.127815947G>A | CA467474320 | ENG | c.1302C>T (p.His434=) c.1848C>T (p.His616=) | gnomAD v4 |
9 | g.127815947G>C | CA374971534 | ENG | c.1302C>G (p.His434Gln) c.1848C>G (p.His616Gln) | |
9 | g.127815947G>T | CA374971540 | ENG | c.1302C>A (p.His434Gln) c.1848C>A (p.His616Gln) | |
9 | g.127815948T>A | CA374971551 | ENG | c.1301A>T (p.His434Leu) c.1847A>T (p.His616Leu) | |
9 | g.127815948T>C | CA374971565 | ENG | c.1301A>G (p.His434Arg) c.1847A>G (p.His616Arg) | |
9 | g.127815948T>G | CA374971574 | ENG | c.1301A>C (p.His434Pro) c.1847A>C (p.His616Pro) | |
9 | g.127815949G>A | CA374971597 | ENG | c.1300C>T (p.His434Tyr) c.1846C>T (p.His616Tyr) | |
9 | g.127815949G>C | CA374971592 | ENG | c.1300C>G (p.His434Asp) c.1846C>G (p.His616Asp) | |
9 | g.127815949G>T | CA374971591 | ENG | c.1300C>A (p.His434Asn) c.1846C>A (p.His616Asn) | |
9 | g.127815950C>A | CA5252622 | ENG | c.1299G>T (p.Ser433=) c.1845G>T (p.Ser615=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127815950C= | CA1879981792 | ENG | c.1299G= (p.Ser433=) c.1845G= (p.Ser615=) | |
9 | g.127815950C>G | CA467474326 | ENG | c.1299G>C (p.Ser433=) c.1845G>C (p.Ser615=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127815950C>T | CA467474327 | ENG | c.1299G>A (p.Ser433=) c.1845G>A (p.Ser615=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.127815951G>A | CA211415 | ENG | c.1298C>T (p.Ser433Leu) c.1844C>T (p.Ser615Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127815951G>C | CA5252623 | ENG | c.1298C>G (p.Ser433Trp) c.1844C>G (p.Ser615Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127815951G= | CA1879981805 | ENG | c.1298C= (p.Ser433=) c.1844C= (p.Ser615=) | |
9 | g.127815951G>T | CA374971617 | ENG | c.1298C>A (p.Ser433Ter) c.1844C>A (p.Ser615Ter) | gnomAD v4 |
9 | g.127815952A>C | CA374971618 | ENG | c.1297T>G (p.Ser433Ala) c.1843T>G (p.Ser615Ala) | |
9 | g.127815952A>G | CA374971622 | ENG | c.1297T>C (p.Ser433Pro) c.1843T>C (p.Ser615Pro) | gnomAD v4 |
9 | g.127815952A>T | CA374971623 | ENG | c.1297T>A (p.Ser433Thr) c.1843T>A (p.Ser615Thr) | |
9 | g.127815953G>A | CA467474331 | ENG | c.1296C>T (p.Tyr432=) c.1842C>T (p.Tyr614=) | dbSNP gnomAD v4 |
9 | g.127815953G>C | CA374971624 | ENG | c.1296C>G (p.Tyr432Ter) c.1842C>G (p.Tyr614Ter) | |
9 | g.127815953G= | CA1879981808 | ENG | c.1296C= (p.Tyr432=) c.1842C= (p.Tyr614=) | |
9 | g.127815953G>T | CA374971631 | ENG | c.1296C>A (p.Tyr432Ter) c.1842C>A (p.Tyr614Ter) | |
9 | g.127815954T>A | CA374971632 | ENG | c.1295A>T (p.Tyr432Phe) c.1841A>T (p.Tyr614Phe) | |
9 | g.127815954T>C | CA374971633 | ENG | c.1295A>G (p.Tyr432Cys) c.1841A>G (p.Tyr614Cys) | gnomAD v4 |
9 | g.127815954T>G | CA374971634 | ENG | c.1295A>C (p.Tyr432Ser) c.1841A>C (p.Tyr614Ser) | |
9 | g.127815955A= | CA1879981810 | ENG | c.1294T= (p.Tyr432=) c.1840T= (p.Tyr614=) | |
9 | g.127815955A>C | CA374971665 | ENG | c.1294T>G (p.Tyr432Asp) c.1840T>G (p.Tyr614Asp) | |
9 | g.127815955A>G | CA374971660 | ENG | c.1294T>C (p.Tyr432His) c.1840T>C (p.Tyr614His) | dbSNP |
9 | g.127815955A>T | CA374971639 | ENG | c.1294T>A (p.Tyr432Asn) c.1840T>A (p.Tyr614Asn) | |
9 | g.127815956G>A | CA467474340 | ENG | c.1293C>T (p.Ile431=) c.1839C>T (p.Ile613=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127815956G>C | CA374971681 | ENG | c.1293C>G (p.Ile431Met) c.1839C>G (p.Ile613Met) | COSMIC |
9 | g.127815956G= | CA1879981814 | ENG | c.1293C= (p.Ile431=) c.1839C= (p.Ile613=) | |
9 | g.127815956G>T | CA467474341 | ENG | c.1293C>A (p.Ile431=) c.1839C>A (p.Ile613=) | gnomAD v4 |
9 | g.127815957A>C | CA374971686 | ENG | c.1292T>G (p.Ile431Ser) c.1838T>G (p.Ile613Ser) | |
9 | g.127815957A>G | CA374971689 | ENG | c.1292T>C (p.Ile431Thr) c.1838T>C (p.Ile613Thr) | |
9 | g.127815957A>T | CA374971691 | ENG | c.1292T>A (p.Ile431Asn) c.1838T>A (p.Ile613Asn) | |
9 | g.127815958T>A | CA374971697 | ENG | c.1291A>T (p.Ile431Phe) c.1837A>T (p.Ile613Phe) | |
9 | g.127815958T>C | CA374971701 | ENG | c.1291A>G (p.Ile431Val) c.1837A>G (p.Ile613Val) | gnomAD v4 |
9 | g.127815958T>G | CA374971707 | ENG | c.1291A>C (p.Ile431Leu) c.1837A>C (p.Ile613Leu) | |
9 | g.127815959G>A | CA467474350 | ENG | c.1290C>T (p.Tyr430=) c.1836C>T (p.Tyr612=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127815959G>C | CA374971709 | ENG | c.1290C>G (p.Tyr430Ter) c.1836C>G (p.Tyr612Ter) | |
9 | g.127815959G= | CA1879981816 | ENG | c.1290C= (p.Tyr430=) c.1836C= (p.Tyr612=) | |
9 | g.127815959G>T | CA374971719 | ENG | c.1290C>A (p.Tyr430Ter) c.1836C>A (p.Tyr612Ter) | gnomAD v4 |
9 | g.127815960T>A | CA374971731 | ENG | c.1289A>T (p.Tyr430Phe) c.1835A>T (p.Tyr612Phe) | |
9 | g.127815960T>C | CA374971739 | ENG | c.1289A>G (p.Tyr430Cys) c.1835A>G (p.Tyr612Cys) | |
9 | g.127815960T>G | CA374971742 | ENG | c.1289A>C (p.Tyr430Ser) c.1835A>C (p.Tyr612Ser) | |
9 | g.127815961A>C | CA374971748 | ENG | c.1288T>G (p.Tyr430Asp) c.1834T>G (p.Tyr612Asp) | |
9 | g.127815961A>G | CA374971755 | ENG | c.1288T>C (p.Tyr430His) c.1834T>C (p.Tyr612His) | |
9 | g.127815961A>T | CA374971750 | ENG | c.1288T>A (p.Tyr430Asn) c.1834T>A (p.Tyr612Asn) | gnomAD v4 |
9 | g.127815962C>A | CA374971759 | ENG | c.1287G>T (p.Trp429Cys) c.1833G>T (p.Trp611Cys) | |
9 | g.127815962C>G | CA374971761 | ENG | c.1287G>C (p.Trp429Cys) c.1833G>C (p.Trp611Cys) | |
9 | g.127815962C>T | CA374971760 | ENG | c.1287G>A (p.Trp429Ter) c.1833G>A (p.Trp611Ter) | |
9 | g.127815963C>A | CA374971763 | ENG | c.1286G>T (p.Trp429Leu) c.1832G>T (p.Trp611Leu) | |
9 | g.127815963C>G | CA374971768 | ENG | c.1286G>C (p.Trp429Ser) c.1832G>C (p.Trp611Ser) | |
9 | g.127815963C>T | CA374971767 | ENG | c.1286G>A (p.Trp429Ter) c.1832G>A (p.Trp611Ter) | |
9 | g.127815964A>C | CA374971769 | ENG | c.1285T>G (p.Trp429Gly) c.1831T>G (p.Trp611Gly) | |
9 | g.127815964A>G | CA374971770 | ENG | c.1285T>C (p.Trp429Arg) c.1831T>C (p.Trp611Arg) | |
9 | g.127815964A>T | CA374971771 | ENG | c.1285T>A (p.Trp429Arg) c.1831T>A (p.Trp611Arg) | |
9 | g.127815965G>A | CA467474365 | ENG | c.1284C>T (p.Leu428=) c.1830C>T (p.Leu610=) | |
9 | g.127815965G>C | CA467474364 | ENG | c.1284C>G (p.Leu428=) c.1830C>G (p.Leu610=) | |
9 | g.127815965G>T | CA467474362 | ENG | c.1284C>A (p.Leu428=) c.1830C>A (p.Leu610=) | gnomAD v4 |
9 | g.127815966A>C | CA374971777 | ENG | c.1283T>G (p.Leu428Arg) c.1829T>G (p.Leu610Arg) | |
9 | g.127815966A>G | CA374971782 | ENG | c.1283T>C (p.Leu428Pro) c.1829T>C (p.Leu610Pro) | |
9 | g.127815966A>T | CA374971786 | ENG | c.1283T>A (p.Leu428His) c.1829T>A (p.Leu610His) | |
9 | g.127815967G>A | CA374971788 | ENG | c.1282C>T (p.Leu428Phe) c.1828C>T (p.Leu610Phe) | gnomAD v4 |
9 | g.127815967G>C | CA374971789 | ENG | c.1282C>G (p.Leu428Val) c.1828C>G (p.Leu610Val) | |
9 | g.127815967G>T | CA374971790 | ENG | c.1282C>A (p.Leu428Ile) c.1828C>A (p.Leu610Ile) | |
9 | g.127815968T>A | CA467474369 | ENG | c.1281A>T (p.Ala427=) c.1827A>T (p.Ala609=) | gnomAD v4 |
9 | g.127815968T>C | CA467474370 | ENG | c.1281A>G (p.Ala427=) c.1827A>G (p.Ala609=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127815968T>G | CA467474371 | ENG | c.1281A>C (p.Ala427=) c.1827A>C (p.Ala609=) | |
9 | g.127815968T= | CA1879981819 | ENG | c.1281A= (p.Ala427=) c.1827A= (p.Ala609=) | |
9 | g.127815969G>A | CA374971795 | ENG | c.1280C>T (p.Ala427Val) c.1826C>T (p.Ala609Val) | ClinVar dbSNP gnomAD v2 |
9 | g.127815969G>C | CA374971798 | ENG | c.1280C>G (p.Ala427Gly) c.1826C>G (p.Ala609Gly) | |
9 | g.127815969G= | CA1879981823 | ENG | c.1280C= (p.Ala427=) c.1826C= (p.Ala609=) | |
9 | g.127815969G>T | CA374971803 | ENG | c.1280C>A (p.Ala427Glu) c.1826C>A (p.Ala609Glu) | gnomAD v4 |
9 | g.127815970C>A | CA374971819 | ENG | c.1279G>T (p.Ala427Ser) c.1825G>T (p.Ala609Ser) | |
9 | g.127815970C>G | CA374971817 | ENG | c.1279G>C (p.Ala427Pro) c.1825G>C (p.Ala609Pro) | |
9 | g.127815970C>T | CA374971814 | ENG | c.1279G>A (p.Ala427Thr) c.1825G>A (p.Ala609Thr) | gnomAD v4 |
9 | g.127815971A>C | CA467474373 | ENG | c.1278T>G (p.Ala426=) c.1824T>G (p.Ala608=) | |
9 | g.127815971A>G | CA467474374 | ENG | c.1278T>C (p.Ala426=) c.1824T>C (p.Ala608=) | |
9 | g.127815971A>T | CA467474375 | ENG | c.1278T>A (p.Ala426=) c.1824T>A (p.Ala608=) | |
9 | g.127815972G>A | CA374971826 | ENG | c.1277C>T (p.Ala426Val) c.1823C>T (p.Ala608Val) | |
9 | g.127815972G>C | CA374971831 | ENG | c.1277C>G (p.Ala426Gly) c.1823C>G (p.Ala608Gly) | |
9 | g.127815972G>T | CA374971840 | ENG | c.1277C>A (p.Ala426Asp) c.1823C>A (p.Ala608Asp) | gnomAD v4 |
9 | g.127815973C>A | CA374971853 | ENG | c.1276G>T (p.Ala426Ser) c.1822G>T (p.Ala608Ser) | |
9 | g.127815973C>G | CA374971857 | ENG | c.1276G>C (p.Ala426Pro) c.1822G>C (p.Ala608Pro) | |
9 | g.127815973C>T | CA374971862 | ENG | c.1276G>A (p.Ala426Thr) c.1822G>A (p.Ala608Thr) | gnomAD v4 |
9 | g.127815974A>C | CA467474378 | ENG | c.1275T>G (p.Thr425=) c.1821T>G (p.Thr607=) | |
9 | g.127815974A>G | CA467474379 | ENG | c.1275T>C (p.Thr425=) c.1821T>C (p.Thr607=) | ClinVar |
9 | g.127815974A>T | CA467474380 | ENG | c.1275T>A (p.Thr425=) c.1821T>A (p.Thr607=) | |
9 | g.127815975G>A | CA374971866 | ENG | c.1274C>T (p.Thr425Ile) c.1820C>T (p.Thr607Ile) | gnomAD v4 |
9 | g.127815975G>C | CA374971870 | ENG | c.1274C>G (p.Thr425Ser) c.1820C>G (p.Thr607Ser) | |
9 | g.127815975G>T | CA374971878 | ENG | c.1274C>A (p.Thr425Asn) c.1820C>A (p.Thr607Asn) | |
9 | g.127815976T>A | CA374971883 | ENG | c.1273A>T (p.Thr425Ser) c.1819A>T (p.Thr607Ser) | |
9 | g.127815976T>C | CA374971885 | ENG | c.1273A>G (p.Thr425Ala) c.1819A>G (p.Thr607Ala) | COSMIC COSMIC |
9 | g.127815976T>G | CA374971888 | ENG | c.1273A>C (p.Thr425Pro) c.1819A>C (p.Thr607Pro) | |
9 | g.127815977G>A | CA467474382 | ENG | c.1272C>T (p.Leu424=) c.1818C>T (p.Leu606=) | |
9 | g.127815977G>C | CA467474383 | ENG | c.1272C>G (p.Leu424=) c.1818C>G (p.Leu606=) | |
9 | g.127815977G= | CA1879981828 | ENG | c.1272C= (p.Leu424=) c.1818C= (p.Leu606=) | |
9 | g.127815977G>T | CA467474384 | ENG | c.1272C>A (p.Leu424=) c.1818C>A (p.Leu606=) | ClinVar dbSNP gnomAD v4 |
9 | g.127815978A>C | CA374971895 | ENG | c.1271T>G (p.Leu424Arg) c.1817T>G (p.Leu606Arg) | |
9 | g.127815978A>G | CA374971914 | ENG | c.1271T>C (p.Leu424Pro) c.1817T>C (p.Leu606Pro) | |
9 | g.127815978A>T | CA374971899 | ENG | c.1271T>A (p.Leu424His) c.1817T>A (p.Leu606His) | |
9 | g.127815979G>A | CA374971917 | ENG | c.1270C>T (p.Leu424Phe) c.1816C>T (p.Leu606Phe) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127815979G>C | CA374971918 | ENG | c.1270C>G (p.Leu424Val) c.1816C>G (p.Leu606Val) | |
9 | g.127815979G= | CA1879981833 | ENG | c.1270C= (p.Leu424=) c.1816C= (p.Leu606=) | |
9 | g.127815979G>T | CA374971922 | ENG | c.1270C>A (p.Leu424Ile) c.1816C>A (p.Leu606Ile) | gnomAD v4 |
9 | g.127815980C>A | CA467474387 | ENG | c.1269G>T (p.Leu423=) c.1815G>T (p.Leu605=) | |
9 | g.127815980C>G | CA467474389 | ENG | c.1269G>C (p.Leu423=) c.1815G>C (p.Leu605=) | |
9 | g.127815980C>T | CA467474391 | ENG | c.1269G>A (p.Leu423=) c.1815G>A (p.Leu605=) | ClinVar dbSNP gnomAD v4 |
9 | g.127815981A>C | CA374971935 | ENG | c.1268T>G (p.Leu423Arg) c.1814T>G (p.Leu605Arg) | |
9 | g.127815981A>G | CA374971943 | ENG | c.1268T>C (p.Leu423Pro) c.1814T>C (p.Leu605Pro) | gnomAD v4 |
9 | g.127815981A>T | CA374971945 | ENG | c.1268T>A (p.Leu423Gln) c.1814T>A (p.Leu605Gln) | |
9 | g.127815982G>A | CA467474393 | ENG | c.1267C>T (p.Leu423=) c.1813C>T (p.Leu605=) | |
9 | g.127815982G>C | CA374971948 | ENG | c.1267C>G (p.Leu423Val) c.1813C>G (p.Leu605Val) | |
9 | g.127815982G>T | CA374971953 | ENG | c.1267C>A (p.Leu423Met) c.1813C>A (p.Leu605Met) | |
9 | g.127815983G>A | CA467474395 | ENG | c.1266C>T (p.Ala422=) c.1812C>T (p.Ala604=) | |
9 | g.127815983G>C | CA467474396 | ENG | c.1266C>G (p.Ala422=) c.1812C>G (p.Ala604=) | |
9 | g.127815983G>T | CA467474397 | ENG | c.1266C>A (p.Ala422=) c.1812C>A (p.Ala604=) | gnomAD v4 |
9 | g.127815984G>A | CA374971968 | ENG | c.1265C>T (p.Ala422Val) c.1811C>T (p.Ala604Val) | dbSNP gnomAD v4 |
9 | g.127815984G>C | CA374971969 | ENG | c.1265C>G (p.Ala422Gly) c.1811C>G (p.Ala604Gly) | |
9 | g.127815984G= | CA1879981839 | ENG | c.1265C= (p.Ala422=) c.1811C= (p.Ala604=) | |
9 | g.127815984G>T | CA374971970 | ENG | c.1265C>A (p.Ala422Asp) c.1811C>A (p.Ala604Asp) | gnomAD v4 |
9 | g.127815985C>A | CA374971974 | ENG | c.1264G>T (p.Ala422Ser) c.1810G>T (p.Ala604Ser) | gnomAD v4 |
9 | g.127815985C>G | CA374971971 | ENG | c.1264G>C (p.Ala422Pro) c.1810G>C (p.Ala604Pro) | |
9 | g.127815985C>T | CA374971973 | ENG | c.1264G>A (p.Ala422Thr) c.1810G>A (p.Ala604Thr) | gnomAD v4 |
9 | g.127815986C>A | CA467474405 | ENG | c.1263G>T (p.Gly421=) c.1809G>T (p.Gly603=) | |
9 | g.127815986C>G | CA467474408 | ENG | c.1263G>C (p.Gly421=) c.1809G>C (p.Gly603=) | |
9 | g.127815986C>T | CA467474407 | ENG | c.1263G>A (p.Gly421=) c.1809G>A (p.Gly603=) | gnomAD v4 |
9 | g.127815987C>A | CA374971975 | ENG | c.1262G>T (p.Gly421Val) c.1808G>T (p.Gly603Val) | gnomAD v4 |
9 | g.127815987C= | CA1879981843 | ENG | c.1262G= (p.Gly421=) c.1808G= (p.Gly603=) | |
9 | g.127815987C>G | CA374971977 | ENG | c.1262G>C (p.Gly421Ala) c.1808G>C (p.Gly603Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127815987C>T | CA374971978 | ENG | c.1262G>A (p.Gly421Glu) c.1808G>A (p.Gly603Glu) | |
9 | g.127815988C>A | CA374971980 | ENG | c.1261G>T (p.Gly421Trp) c.1807G>T (p.Gly603Trp) | |
9 | g.127815988C= | CA1879981849 | ENG | c.1261G= (p.Gly421=) c.1807G= (p.Gly603=) | |
9 | g.127815988C>G | CA374971981 | ENG | c.1261G>C (p.Gly421Arg) c.1807G>C (p.Gly603Arg) | |
9 | g.127815988C>T | CA374971982 | ENG | c.1261G>A (p.Gly421Arg) c.1807G>A (p.Gly603Arg) | ClinVar dbSNP gnomAD v4 |
9 | g.127815989G>A | CA5252624 | ENG | c.1260C>T (p.Ile420=) c.1806C>T (p.Ile602=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127815989G>C | CA374971983 | ENG | c.1260C>G (p.Ile420Met) c.1806C>G (p.Ile602Met) | |
9 | g.127815989G= | CA1879981856 | ENG | c.1260C= (p.Ile420=) c.1806C= (p.Ile602=) | |
9 | g.127815989G>T | CA467474415 | ENG | c.1260C>A (p.Ile420=) c.1806C>A (p.Ile602=) | gnomAD v4 |
9 | g.127815990A>C | CA374971984 | ENG | c.1259T>G (p.Ile420Ser) c.1805T>G (p.Ile602Ser) | |
9 | g.127815990A>G | CA374971986 | ENG | c.1259T>C (p.Ile420Thr) c.1805T>C (p.Ile602Thr) | |
9 | g.127815990A>T | CA374971989 | ENG | c.1259T>A (p.Ile420Asn) c.1805T>A (p.Ile602Asn) | |
9 | g.127815990_127815991delinsAT | CA1879981861 | ENG | c.1258_1259delinsAT (p.Ile420=) c.1804_1805delinsAT (p.Ile602=) | |
9 | g.127815991del | CA645294055 | ENG | c.1258del (p.Ile420SerfsTer?) c.1804del (p.Ile602SerfsTer?) | ClinVar dbSNP |
9 | g.127815991T>A | CA374971991 | ENG | c.1258A>T (p.Ile420Phe) c.1804A>T (p.Ile602Phe) | |
9 | g.127815991T>C | CA374971992 | ENG | c.1258A>G (p.Ile420Val) c.1804A>G (p.Ile602Val) | gnomAD v4 |
9 | g.127815991T>G | CA374971990 | ENG | c.1258A>C (p.Ile420Leu) c.1804A>C (p.Ile602Leu) | |
9 | g.127815992G>A | CA467474420 | ENG | c.1257C>T (p.Leu419=) c.1803C>T (p.Leu601=) | |
9 | g.127815992G>C | CA467474421 | ENG | c.1257C>G (p.Leu419=) c.1803C>G (p.Leu601=) | |
9 | g.127815992G>T | CA467474422 | ENG | c.1257C>A (p.Leu419=) c.1803C>A (p.Leu601=) | |
9 | g.127815993A>C | CA374971995 | ENG | c.1256T>G (p.Leu419Arg) c.1802T>G (p.Leu601Arg) | |
9 | g.127815993A>G | CA374971996 | ENG | c.1256T>C (p.Leu419Pro) c.1802T>C (p.Leu601Pro) | |
9 | g.127815993A>T | CA374971997 | ENG | c.1256T>A (p.Leu419His) c.1802T>A (p.Leu601His) | |
9 | g.127815994G>A | CA374972000 | ENG | c.1255C>T (p.Leu419Phe) c.1801C>T (p.Leu601Phe) | |
9 | g.127815994G>C | CA374972002 | ENG | c.1255C>G (p.Leu419Val) c.1801C>G (p.Leu601Val) | |
9 | g.127815994G>T | CA374972004 | ENG | c.1255C>A (p.Leu419Ile) c.1801C>A (p.Leu601Ile) | |
9 | g.127815995dup | CA2840533212 | ENG | c.1255dup (p.Leu419ProfsTer?) c.1801dup (p.Leu601ProfsTer?) c.1801dup (p.Leu601ProfsTer19) | |
9 | g.127815995G>A | CA467474431 | ENG | c.1254C>T (p.Phe418=) c.1800C>T (p.Phe600=) | dbSNP gnomAD v4 |
9 | g.127815995G>C | CA374972016 | ENG | c.1254C>G (p.Phe418Leu) c.1800C>G (p.Phe600Leu) | |
9 | g.127815995G= | CA1879981867 | ENG | c.1254C= (p.Phe418=) c.1800C= (p.Phe600=) | |
9 | g.127815995G>T | CA374972013 | ENG | c.1254C>A (p.Phe418Leu) c.1800C>A (p.Phe600Leu) | gnomAD v4 |
9 | g.127815996A>C | CA374972017 | ENG | c.1253T>G (p.Phe418Cys) c.1799T>G (p.Phe600Cys) | |
9 | g.127815996A>G | CA374972019 | ENG | c.1253T>C (p.Phe418Ser) c.1799T>C (p.Phe600Ser) | |
9 | g.127815996A>T | CA374972020 | ENG | c.1253T>A (p.Phe418Tyr) c.1799T>A (p.Phe600Tyr) | |
9 | g.127815997A>C | CA374972022 | ENG | c.1252T>G (p.Phe418Val) c.1798T>G (p.Phe600Val) | |
9 | g.127815997A>G | CA374972025 | ENG | c.1252T>C (p.Phe418Leu) c.1798T>C (p.Phe600Leu) | |
9 | g.127815997A>T | CA374972027 | ENG | c.1252T>A (p.Phe418Ile) c.1798T>A (p.Phe600Ile) | |
9 | g.127815998G>A | CA467474440 | ENG | c.1251C>T (p.Ala417=) c.1797C>T (p.Ala599=) | |
9 | g.127815998G>C | CA467474442 | ENG | c.1251C>G (p.Ala417=) c.1797C>G (p.Ala599=) | |
9 | g.127815998G>T | CA467474441 | ENG | c.1251C>A (p.Ala417=) c.1797C>A (p.Ala599=) | |
9 | g.127815999G>A | CA374972029 | ENG | c.1250C>T (p.Ala417Val) c.1796C>T (p.Ala599Val) | COSMIC COSMIC |
9 | g.127815999G>C | CA374972045 | ENG | c.1250C>G (p.Ala417Gly) c.1796C>G (p.Ala599Gly) | gnomAD v4 |
9 | g.127815999G>T | CA374972032 | ENG | c.1250C>A (p.Ala417Asp) c.1796C>A (p.Ala599Asp) | gnomAD v4 |
9 | g.127816000C>A | CA374972051 | ENG | c.1249G>T (p.Ala417Ser) c.1795G>T (p.Ala599Ser) | gnomAD v4 |
9 | g.127816000C>G | CA374972053 | ENG | c.1249G>C (p.Ala417Pro) c.1795G>C (p.Ala599Pro) | |
9 | g.127816000C>T | CA374972056 | ENG | c.1249G>A (p.Ala417Thr) c.1795G>A (p.Ala599Thr) | COSMIC COSMIC |
9 | g.127816001A= | CA1879981873 | ENG | c.1248T= (p.Gly416=) c.1794T= (p.Gly598=) | |
9 | g.127816001A>C | CA467474451 | ENG | c.1248T>G (p.Gly416=) c.1794T>G (p.Gly598=) | |
9 | g.127816001A>G | CA321271 | ENG | c.1248T>C (p.Gly416=) c.1794T>C (p.Gly598=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127816001A>T | CA467474453 | ENG | c.1248T>A (p.Gly416=) c.1794T>A (p.Gly598=) | |
9 | g.127816002C>A | CA374972078 | ENG | c.1247G>T (p.Gly416Val) c.1793G>T (p.Gly598Val) | |
9 | g.127816002C= | CA1879981878 | ENG | c.1247G= (p.Gly416=) c.1793G= (p.Gly598=) | |
9 | g.127816002C>G | CA5252625 | ENG | c.1247G>C (p.Gly416Ala) c.1793G>C (p.Gly598Ala) | dbSNP ExAC gnomAD v2 |
9 | g.127816002C>T | CA374972081 | ENG | c.1247G>A (p.Gly416Asp) c.1793G>A (p.Gly598Asp) | gnomAD v4 |
9 | g.127816003C>A | CA374972085 | ENG | c.1246G>T (p.Gly416Cys) c.1792G>T (p.Gly598Cys) | gnomAD v4 |
9 | g.127816003C>G | CA374972087 | ENG | c.1246G>C (p.Gly416Arg) c.1792G>C (p.Gly598Arg) | |
9 | g.127816003C>T | CA374972089 | ENG | c.1246G>A (p.Gly416Ser) c.1792G>A (p.Gly598Ser) | |
9 | g.127816004A= | CA1879981882 | ENG | c.1245T= (p.Phe415=) c.1791T= (p.Phe597=) | |
9 | g.127816004A>C | CA374972092 | ENG | c.1245T>G (p.Phe415Leu) c.1791T>G (p.Phe597Leu) | dbSNP |
9 | g.127816004A>G | CA467474460 | ENG | c.1245T>C (p.Phe415=) c.1791T>C (p.Phe597=) | |
9 | g.127816004A>T | CA374972095 | ENG | c.1245T>A (p.Phe415Leu) c.1791T>A (p.Phe597Leu) | |
9 | g.127816006dup | CA2840533213 | ENG | c.1245dup (p.Gly416TrpfsTer?) c.1791dup (p.Gly598TrpfsTer?) c.1791dup (p.Gly598TrpfsTer22) | |
9 | g.127816005A>C | CA374972101 | ENG | c.1244T>G (p.Phe415Cys) c.1790T>G (p.Phe597Cys) | gnomAD v4 |
9 | g.127816005A>G | CA374972105 | ENG | c.1244T>C (p.Phe415Ser) c.1790T>C (p.Phe597Ser) | COSMIC COSMIC |
9 | g.127816005A>T | CA374972103 | ENG | c.1244T>A (p.Phe415Tyr) c.1790T>A (p.Phe597Tyr) | |
9 | g.127816006A>C | CA374972107 | ENG | c.1243T>G (p.Phe415Val) c.1789T>G (p.Phe597Val) | gnomAD v4 |
9 | g.127816006A>G | CA374972109 | ENG | c.1243T>C (p.Phe415Leu) c.1789T>C (p.Phe597Leu) | gnomAD v4 |
9 | g.127816006A>T | CA374972112 | ENG | c.1243T>A (p.Phe415Ile) c.1789T>A (p.Phe597Ile) | |
9 | g.127816007G>A | CA467474473 | ENG | c.1242C>T (p.Thr414=) c.1788C>T (p.Thr596=) | |
9 | g.127816007G>C | CA467474474 | ENG | c.1242C>G (p.Thr414=) c.1788C>G (p.Thr596=) | |
9 | g.127816007G>T | CA467474475 | ENG | c.1242C>A (p.Thr414=) c.1788C>A (p.Thr596=) | |
9 | g.127816008G>A | CA374972113 | ENG | c.1241C>T (p.Thr414Ile) c.1787C>T (p.Thr596Ile) | |
9 | g.127816008G>C | CA374972114 | ENG | c.1241C>G (p.Thr414Ser) c.1787C>G (p.Thr596Ser) | |
9 | g.127816008G>T | CA374972115 | ENG | c.1241C>A (p.Thr414Asn) c.1787C>A (p.Thr596Asn) | |
9 | g.127816009T>A | CA374972116 | ENG | c.1240A>T (p.Thr414Ser) c.1786A>T (p.Thr596Ser) | |
9 | g.127816009T>C | CA374972121 | ENG | c.1240A>G (p.Thr414Ala) c.1786A>G (p.Thr596Ala) | ClinVar dbSNP gnomAD v4 |
9 | g.127816009T>G | CA374972127 | ENG | c.1240A>C (p.Thr414Pro) c.1786A>C (p.Thr596Pro) | |
9 | g.127816009T= | CA1879981887 | ENG | c.1240A= (p.Thr414=) c.1786A= (p.Thr596=) | |
9 | g.127816010G>A | CA467474483 | ENG | c.1239C>T (p.Ile413=) c.1785C>T (p.Ile595=) | |
9 | g.127816010G>C | CA374972133 | ENG | c.1239C>G (p.Ile413Met) c.1785C>G (p.Ile595Met) | |
9 | g.127816010G>T | CA467474485 | ENG | c.1239C>A (p.Ile413=) c.1785C>A (p.Ile595=) | |
9 | g.127816011A>C | CA374972138 | ENG | c.1238T>G (p.Ile413Ser) c.1784T>G (p.Ile595Ser) | |
9 | g.127816011A>G | CA374972140 | ENG | c.1238T>C (p.Ile413Thr) c.1784T>C (p.Ile595Thr) | |
9 | g.127816011A>T | CA374972141 | ENG | c.1238T>A (p.Ile413Asn) c.1784T>A (p.Ile595Asn) | |
9 | g.127816012T>A | CA374972143 | ENG | c.1237A>T (p.Ile413Phe) c.1783A>T (p.Ile595Phe) | |
9 | g.127816012T>C | CA374972146 | ENG | c.1237A>G (p.Ile413Val) c.1783A>G (p.Ile595Val) | |
9 | g.127816012T>G | CA374972144 | ENG | c.1237A>C (p.Ile413Leu) c.1783A>C (p.Ile595Leu) | |
9 | g.127816013G>A | CA467474499 | ENG | c.1236C>T (p.Gly412=) c.1782C>T (p.Gly594=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.127816013G>C | CA467474493 | ENG | c.1236C>G (p.Gly412=) c.1782C>G (p.Gly594=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.127816013G= | CA1879981892 | ENG | c.1236C= (p.Gly412=) c.1782C= (p.Gly594=) | |
9 | g.127816013G>T | CA467474495 | ENG | c.1236C>A (p.Gly412=) c.1782C>A (p.Gly594=) | |
9 | g.127816014C>A | CA374972155 | ENG | c.1235G>T (p.Gly412Val) c.1781G>T (p.Gly594Val) | |
9 | g.127816014C= | CA1879981901 | ENG | c.1235G= (p.Gly412=) c.1781G= (p.Gly594=) | |
9 | g.127816014C>G | CA374972158 | ENG | c.1235G>C (p.Gly412Ala) c.1781G>C (p.Gly594Ala) | |
9 | g.127816014C>T | CA200301536 | ENG | c.1235G>A (p.Gly412Asp) c.1781G>A (p.Gly594Asp) | dbSNP gnomAD v4 |
9 | g.127816016dup | CA2840533214 | ENG | c.1235dup (p.Ile413HisfsTer?) c.1781dup (p.Ile595HisfsTer?) c.1781dup (p.Ile595HisfsTer25) | |
9 | g.127816015C>A | CA374972164 | ENG | c.1234G>T (p.Gly412Cys) c.1780G>T (p.Gly594Cys) | COSMIC COSMIC |
9 | g.127816015C= | CA1879981908 | ENG | c.1234G= (p.Gly412=) c.1780G= (p.Gly594=) | |
9 | g.127816015C>G | CA374972166 | ENG | c.1234G>C (p.Gly412Arg) c.1780G>C (p.Gly594Arg) | |
9 | g.127816015C>T | CA16612526 | ENG | c.1234G>A (p.Gly412Ser) c.1780G>A (p.Gly594Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127816016C>A | CA467474502 | ENG | c.1233G>T (p.Leu411=) c.1779G>T (p.Leu593=) | |
9 | g.127816016C= | CA1879981911 | ENG | c.1233G= (p.Leu411=) c.1779G= (p.Leu593=) | |
9 | g.127816016C>G | CA467474504 | ENG | c.1233G>C (p.Leu411=) c.1779G>C (p.Leu593=) | |
9 | g.127816016C>T | CA467474506 | ENG | c.1233G>A (p.Leu411=) c.1779G>A (p.Leu593=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127816017A>C | CA374972171 | ENG | c.1232T>G (p.Leu411Arg) c.1778T>G (p.Leu593Arg) | |
9 | g.127816017A>G | CA374972173 | ENG | c.1232T>C (p.Leu411Pro) c.1778T>C (p.Leu593Pro) | gnomAD v4 |
9 | g.127816017A>T | CA374972176 | ENG | c.1232T>A (p.Leu411Gln) c.1778T>A (p.Leu593Gln) | |
9 | g.127816018G>A | CA467474513 | ENG | c.1231C>T (p.Leu411=) c.1777C>T (p.Leu593=) | |
9 | g.127816018G>C | CA374972179 | ENG | c.1231C>G (p.Leu411Val) c.1777C>G (p.Leu593Val) | gnomAD v4 |
9 | g.127816018G>T | CA374972181 | ENG | c.1231C>A (p.Leu411Met) c.1777C>A (p.Leu593Met) | gnomAD v4 |
9 | g.127816019C>A | CA467474517 | ENG | c.1230G>T (p.Val410=) c.1776G>T (p.Val592=) | gnomAD v4 |
9 | g.127816019C= | CA1879981914 | ENG | c.1230G= (p.Val410=) c.1776G= (p.Val592=) | |
9 | g.127816019C>G | CA467474519 | ENG | c.1230G>C (p.Val410=) c.1776G>C (p.Val592=) | |
9 | g.127816019C>T | CA467474520 | ENG | c.1230G>A (p.Val410=) c.1776G>A (p.Val592=) | dbSNP gnomAD v2 |
9 | g.127816020A>C | CA374972186 | ENG | c.1229T>G (p.Val410Gly) c.1775T>G (p.Val592Gly) | |
9 | g.127816020A>G | CA374972189 | ENG | c.1229T>C (p.Val410Ala) c.1775T>C (p.Val592Ala) | |
9 | g.127816020A>T | CA374972183 | ENG | c.1229T>A (p.Val410Glu) c.1775T>A (p.Val592Glu) | |
9 | g.127816021C>A | CA374972196 | ENG | c.1228G>T (p.Val410Leu) c.1774G>T (p.Val592Leu) | |
9 | g.127816021C= | CA1879981918 | ENG | c.1228G= (p.Val410=) c.1774G= (p.Val592=) | |
9 | g.127816021C>G | CA374972193 | ENG | c.1228G>C (p.Val410Leu) c.1774G>C (p.Val592Leu) | |
9 | g.127816021C>T | CA5252626 | ENG | c.1228G>A (p.Val410Met) c.1774G>A (p.Val592Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127816024_127816026del | CA2691805857 | ENG | c.1226_1228del (p.Ala409del) c.1772_1774del (p.Ala591del) | gnomAD v4 |
9 | g.127816022G>A | CA5252627 | ENG | c.1227C>T (p.Ala409=) c.1773C>T (p.Ala591=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.127816022G>C | CA467474526 | ENG | c.1227C>G (p.Ala409=) c.1773C>G (p.Ala591=) | |
9 | g.127816022G= | CA1879981923 | ENG | c.1227C= (p.Ala409=) c.1773C= (p.Ala591=) | |
9 | g.127816022G>T | CA467474527 | ENG | c.1227C>A (p.Ala409=) c.1773C>A (p.Ala591=) | |
9 | g.127816023G>A | CA5252628 | ENG | c.1226C>T (p.Ala409Val) c.1772C>T (p.Ala591Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127816023G>C | CA374972204 | ENG | c.1226C>G (p.Ala409Gly) c.1772C>G (p.Ala591Gly) | |
9 | g.127816023G= | CA1879981926 | ENG | c.1226C= (p.Ala409=) c.1772C= (p.Ala591=) | |
9 | g.127816023G>T | CA374972205 | ENG | c.1226C>A (p.Ala409Asp) c.1772C>A (p.Ala591Asp) | |
9 | g.127816024C>A | CA374972208 | ENG | c.1225G>T (p.Ala409Ser) c.1771G>T (p.Ala591Ser) | |
9 | g.127816024C= | CA1879981929 | ENG | c.1225G= (p.Ala409=) c.1771G= (p.Ala591=) | |
9 | g.127816024C>G | CA374972213 | ENG | c.1225G>C (p.Ala409Pro) c.1771G>C (p.Ala591Pro) | gnomAD v4 |
9 | g.127816024C>T | CA5252629 | ENG | c.1225G>A (p.Ala409Thr) c.1771G>A (p.Ala591Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127816025G>A | CA5252630 | ENG | c.1224C>T (p.Pro408=) c.1770C>T (p.Pro590=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127816025G>C | CA467474532 | ENG | c.1224C>G (p.Pro408=) c.1770C>G (p.Pro590=) | |
9 | g.127816025G= | CA1879981936 | ENG | c.1224C= (p.Pro408=) c.1770C= (p.Pro590=) | |
9 | g.127816025G>T | CA467474533 | ENG | c.1224C>A (p.Pro408=) c.1770C>A (p.Pro590=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127816026G>A | CA374972217 | ENG | c.1223C>T (p.Pro408Leu) c.1769C>T (p.Pro590Leu) | gnomAD v4 |
9 | g.127816026G>C | CA374972219 | ENG | c.1223C>G (p.Pro408Arg) c.1769C>G (p.Pro590Arg) | gnomAD v4 |
9 | g.127816026G= | CA1879981943 | ENG | c.1223C= (p.Pro408=) c.1769C= (p.Pro590=) | |
9 | g.127816026G>T | CA374972221 | ENG | c.1223C>A (p.Pro408His) c.1769C>A (p.Pro590His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127816027G>A | CA374972231 | ENG | c.1222C>T (p.Pro408Ser) c.1768C>T (p.Pro590Ser) | gnomAD v4 |
9 | g.127816027G>C | CA374972229 | ENG | c.1222C>G (p.Pro408Ala) c.1768C>G (p.Pro590Ala) | |
9 | g.127816027G>T | CA374972226 | ENG | c.1222C>A (p.Pro408Thr) c.1768C>A (p.Pro590Thr) | |
9 | g.127816028C>A | CA467474536 | ENG | c.1221G>T (p.Leu407=) c.1767G>T (p.Leu589=) | |
9 | g.127816028C= | CA1879981947 | ENG | c.1221G= (p.Leu407=) c.1767G= (p.Leu589=) | |
9 | g.127816028C>G | CA467474537 | ENG | c.1221G>C (p.Leu407=) c.1767G>C (p.Leu589=) | |
9 | g.127816028C>T | CA467474538 | ENG | c.1221G>A (p.Leu407=) c.1767G>A (p.Leu589=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127816029A= | CA1879981952 | ENG | c.1220T= (p.Leu407=) c.1766T= (p.Leu589=) | |
9 | g.127816029A>C | CA374972243 | ENG | c.1220T>G (p.Leu407Arg) c.1766T>G (p.Leu589Arg) | |
9 | g.127816029A>G | CA5252631 | ENG | c.1220T>C (p.Leu407Pro) c.1766T>C (p.Leu589Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127816029A>T | CA374972247 | ENG | c.1220T>A (p.Leu407Gln) c.1766T>A (p.Leu589Gln) | |
9 | g.127816030G>A | CA467474539 | ENG | c.1219C>T (p.Leu407=) c.1765C>T (p.Leu589=) | gnomAD v4 |
9 | g.127816030G>C | CA374972252 | ENG | c.1219C>G (p.Leu407Val) c.1765C>G (p.Leu589Val) | |
9 | g.127816030G>T | CA374972255 | ENG | c.1219C>A (p.Leu407Met) c.1765C>A (p.Leu589Met) | |
9 | g.127816031G>A | CA467474542 | ENG | c.1218C>T (p.Val406=) c.1764C>T (p.Val588=) | gnomAD v4 |
9 | g.127816031G>C | CA467474544 | ENG | c.1218C>G (p.Val406=) c.1764C>G (p.Val588=) | |
9 | g.127816031G>T | CA467474547 | ENG | c.1218C>A (p.Val406=) c.1764C>A (p.Val588=) | gnomAD v4 |
9 | g.127816032A>C | CA374972257 | ENG | c.1217T>G (p.Val406Gly) c.1763T>G (p.Val588Gly) | |
9 | g.127816032A>G | CA374972259 | ENG | c.1217T>C (p.Val406Ala) c.1763T>C (p.Val588Ala) | |
9 | g.127816032A>T | CA374972262 | ENG | c.1217T>A (p.Val406Asp) c.1763T>A (p.Val588Asp) | |
9 | g.127816033C>A | CA374972265 | ENG | c.1216G>T (p.Val406Phe) c.1762G>T (p.Val588Phe) | |
9 | g.127816033C= | CA1879981958 | ENG | c.1216G= (p.Val406=) c.1762G= (p.Val588=) | |
9 | g.127816033C>G | CA374972267 | ENG | c.1216G>C (p.Val406Leu) c.1762G>C (p.Val588Leu) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127816033C>T | CA5252632 | ENG | c.1216G>A (p.Val406Ile) c.1762G>A (p.Val588Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127816034G>A | CA5252633 | ENG | c.1215C>T (p.Leu405=) c.1761C>T (p.Leu587=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127816034G>C | CA467474552 | ENG | c.1215C>G (p.Leu405=) c.1761C>G (p.Leu587=) | gnomAD v4 |
9 | g.127816034G= | CA1879981966 | ENG | c.1215C= (p.Leu405=) c.1761C= (p.Leu587=) | |
9 | g.127816034G>T | CA467474554 | ENG | c.1215C>A (p.Leu405=) c.1761C>A (p.Leu587=) | gnomAD v4 |
9 | g.127816035A>C | CA374972273 | ENG | c.1214T>G (p.Leu405Arg) c.1760T>G (p.Leu587Arg) | |
9 | g.127816035A>G | CA374972274 | ENG | c.1214T>C (p.Leu405Pro) c.1760T>C (p.Leu587Pro) | |
9 | g.127816035A>T | CA374972272 | ENG | c.1214T>A (p.Leu405His) c.1760T>A (p.Leu587His) | |
9 | g.127816036G>A | CA5252634 | ENG | c.1213C>T (p.Leu405Phe) c.1759C>T (p.Leu587Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127816036G>C | CA374972277 | ENG | c.1213C>G (p.Leu405Val) c.1759C>G (p.Leu587Val) | |
9 | g.127816036G= | CA1879981974 | ENG | c.1213C= (p.Leu405=) c.1759C= (p.Leu587=) | |
9 | g.127816036G>T | CA374972279 | ENG | c.1213C>A (p.Leu405Ile) c.1759C>A (p.Leu587Ile) | |
9 | g.127816037G>A | CA5252635 | ENG | c.1212C>T (p.Gly404=) c.1758C>T (p.Gly586=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127816037G>C | CA467474562 | ENG | c.1212C>G (p.Gly404=) c.1758C>G (p.Gly586=) | gnomAD v4 |
9 | g.127816037G= | CA1879981983 | ENG | c.1212C= (p.Gly404=) c.1758C= (p.Gly586=) | |
9 | g.127816037G>T | CA467474563 | ENG | c.1212C>A (p.Gly404=) c.1758C>A (p.Gly586=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127816038C>A | CA374972282 | ENG | c.1211G>T (p.Gly404Val) c.1757G>T (p.Gly586Val) | gnomAD v4 COSMIC COSMIC |
9 | g.127816038C>G | CA374972284 | ENG | c.1211G>C (p.Gly404Ala) c.1757G>C (p.Gly586Ala) | gnomAD v4 |
9 | g.127816038C>T | CA374972285 | ENG | c.1211G>A (p.Gly404Asp) c.1757G>A (p.Gly586Asp) | gnomAD v4 |
9 | g.127816039C>A | CA374972287 | ENG | c.1210G>T (p.Gly404Cys) c.1756G>T (p.Gly586Cys) | |
9 | g.127816039C>G | CA374972289 | ENG | c.1210G>C (p.Gly404Arg) c.1756G>C (p.Gly586Arg) | |
9 | g.127816039C>T | CA374972290 | ENG | c.1210G>A (p.Gly404Ser) c.1756G>A (p.Gly586Ser) | |
9 | g.127816040T>A | CA374972291 | ENG | c.1209A>T (p.Lys403Asn) c.1755A>T (p.Lys585Asn) | |
9 | g.127816040T>C | CA467474572 | ENG | c.1209A>G (p.Lys403=) c.1755A>G (p.Lys585=) | |
9 | g.127816040T>G | CA5252636 | ENG | c.1209A>C (p.Lys403Asn) c.1755A>C (p.Lys585Asn) | dbSNP ExAC gnomAD v2 |
9 | g.127816040T= | CA1879981990 | ENG | c.1209A= (p.Lys403=) c.1755A= (p.Lys585=) | |
9 | g.127816042del | CA2691805860 | ENG | c.1209del (p.Gly404AlafsTer?) c.1755del (p.Gly586AlafsTer?) | gnomAD v4 |
9 | g.127816040_127816041insGGA | CA2691805861 | ENG | c.1208_1209insTCC (p.Lys403delinsAsnPro) c.1754_1755insTCC (p.Lys585delinsAsnPro) | gnomAD v4 |
9 | g.127816041T>A | CA374972295 | ENG | c.1208A>T (p.Lys403Ile) c.1754A>T (p.Lys585Ile) | |
9 | g.127816041T>C | CA374972297 | ENG | c.1208A>G (p.Lys403Arg) c.1754A>G (p.Lys585Arg) | |
9 | g.127816041T>G | CA374972294 | ENG | c.1208A>C (p.Lys403Thr) c.1754A>C (p.Lys585Thr) |