Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.3770509_3770634del | CA2813344230 | RAX2 | c.546_*116del (n.[c.546_*116del;Pro183GlyfsTer?]) c.684_*116del (n.[c.684_*116del;Pro229GlyfsTer?]) | |
19 | g.3770582C>A | CA2584525816 | RAX2 | c.*39G>T (n.*39G>T) | gnomAD v4 |
19 | g.3770582C= | CA2319043561 | RAX2 | c.*39G= (n.*39G=) | |
19 | g.3770582C>G | CA2584525817 | RAX2 | c.*39G>C (n.*39G>C) | gnomAD v4 |
19 | g.3770582C>T | CA631522384 | RAX2 | c.*39G>A (n.*39G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770583G>A | CA304416545 | RAX2 | c.*38C>T (n.*38C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770583G= | CA2319043562 | RAX2 | c.*38C= (n.*38C=) | |
19 | g.3770583G>T | CA2584525818 | RAX2 | c.*38C>A (n.*38C>A) | gnomAD v4 |
19 | g.3770586_3770590del | CA2584525819 | RAX2 | c.*34_*38del (n.*34_*38del) | gnomAD v4 |
19 | g.3770584G>T | CA2584525820 | RAX2 | c.*37C>A (n.*37C>A) | gnomAD v4 |
19 | g.3770585G>A | CA2584525821 | RAX2 | c.*36C>T (n.*36C>T) | gnomAD v4 |
19 | g.3770585G>T | CA2584525822 | RAX2 | c.*36C>A (n.*36C>A) | gnomAD v4 |
19 | g.3770586T>C | CA2584525823 | RAX2 | c.*35A>G (n.*35A>G) | gnomAD v4 |
19 | g.3770587T>C | CA2319043565 | RAX2 | c.*34A>G (n.*34A>G) | dbSNP |
19 | g.3770587T= | CA2319043564 | RAX2 | c.*34A= (n.*34A=) | |
19 | g.3770587_3770588delinsTG | CA2319043563 | RAX2 | c.*33_*34delinsCA (n.*33_*34delinsCA) | |
19 | g.3770588G>A | CA2584525826 | RAX2 | c.*33C>T (n.*33C>T) | gnomAD v4 |
19 | g.3770588G>T | CA2584525827 | RAX2 | c.*33C>A (n.*33C>A) | gnomAD v4 |
19 | g.3770590del | CA631522385 | RAX2 | c.*33del (n.*33del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3770590_3770602dup | CA2584525825 | RAX2 | c.*21_*33dup (n.*21_*33dup) | gnomAD v4 |
19 | g.3770593_3770604dup | CA2584525824 | RAX2 | c.*22_*33dup (n.*22_*33dup) | gnomAD v4 |
19 | g.3770589G>A | CA2584525828 | RAX2 | c.*32C>T (n.*32C>T) | gnomAD v4 |
19 | g.3770589G>C | CA2584525829 | RAX2 | c.*32C>G (n.*32C>G) | gnomAD v4 |
19 | g.3770589G>T | CA2813344232 | RAX2 | c.*32C>A (n.*32C>A) | |
19 | g.3770590G>A | CA2584525830 | RAX2 | c.*31C>T (n.*31C>T) | gnomAD v4 |
19 | g.3770590G>T | CA2576569915 | RAX2 | c.*31C>A (n.*31C>A) | gnomAD v4 |
19 | g.3770591C>A | CA2584525831 | RAX2 | c.*30G>T (n.*30G>T) | gnomAD v4 |
19 | g.3770591C>T | CA2584525832 | RAX2 | c.*30G>A (n.*30G>A) | gnomAD v4 |
19 | g.3770592C>A | CA881963239 | RAX2 | c.*29G>T (n.*29G>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3770592C= | CA2319043566 | RAX2 | c.*29G= (n.*29G=) | |
19 | g.3770592C>G | CA631522386 | RAX2 | c.*29G>C (n.*29G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3770592C>T | CA304416549 | RAX2 | c.*29G>A (n.*29G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770593G>A | CA9085022 | RAX2 | c.*28C>T (n.*28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770593G= | CA2319043567 | RAX2 | c.*28C= (n.*28C=) | |
19 | g.3770593G>T | CA2584525833 | RAX2 | c.*28C>A (n.*28C>A) | gnomAD v4 |
19 | g.3770594A= | CA2319043568 | RAX2 | c.*27T= (n.*27T=) | |
19 | g.3770594A>G | CA631522387 | RAX2 | c.*27T>C (n.*27T>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3770595G>C | CA631522388 | RAX2 | c.*26C>G (n.*26C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3770595G= | CA2319043569 | RAX2 | c.*26C= (n.*26C=) | |
19 | g.3770596G>A | CA631522389 | RAX2 | c.*25C>T (n.*25C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770596G>C | CA2319043571 | RAX2 | c.*25C>G (n.*25C>G) | dbSNP |
19 | g.3770596G= | CA2319043570 | RAX2 | c.*25C= (n.*25C=) | |
19 | g.3770596G>T | CA2584525834 | RAX2 | c.*25C>A (n.*25C>A) | gnomAD v4 |
19 | g.3770597A>C | CA2584525835 | RAX2 | c.*24T>G (n.*24T>G) | gnomAD v4 |
19 | g.3770597A>G | CA2584525836 | RAX2 | c.*24T>C (n.*24T>C) | gnomAD v4 |
19 | g.3770598G>A | CA2584525838 | RAX2 | c.*23C>T (n.*23C>T) | gnomAD v4 |
19 | g.3770598G= | CA2319043572 | RAX2 | c.*23C= (n.*23C=) | |
19 | g.3770598G>T | CA2319043573 | RAX2 | c.*23C>A (n.*23C>A) | dbSNP gnomAD v4 |
19 | g.3770602del | CA2584525837 | RAX2 | c.*23del (n.*23del) | gnomAD v4 |
19 | g.3770599G>A | CA304416553 | RAX2 | c.*22C>T (n.*22C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770599G= | CA2319043574 | RAX2 | c.*22C= (n.*22C=) | |
19 | g.3770600G>A | CA881963265 | RAX2 | c.*21C>T (n.*21C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3770600G= | CA2319043575 | RAX2 | c.*21C= (n.*21C=) | |
19 | g.3770600G>T | CA2584525839 | RAX2 | c.*21C>A (n.*21C>A) | gnomAD v4 |
19 | g.3770601G>T | CA2576569922 | RAX2 | c.*20C>A (n.*20C>A) | gnomAD v4 |
19 | g.3770602G>A | CA631522391 | RAX2 | c.*19C>T (n.*19C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3770602G= | CA2319043576 | RAX2 | c.*19C= (n.*19C=) | |
19 | g.3770602G>T | CA631522390 | RAX2 | c.*19C>A (n.*19C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3770602_3770603delinsGC | CA2319043577 | RAX2 | c.*18_*19delinsGC (n.*18_*19delinsGC) | |
19 | g.3770603C>A | CA2584525840 | RAX2 | c.*18G>T (n.*18G>T) | gnomAD v4 |
19 | g.3770603C= | CA2319043578 | RAX2 | c.*18G= (n.*18G=) | |
19 | g.3770603C>G | CA2584525841 | RAX2 | c.*18G>C (n.*18G>C) | gnomAD v4 |
19 | g.3770603C>T | CA9085023 | RAX2 | c.*18G>A (n.*18G>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.3770605del | CA631522392 | RAX2 | c.*18del (n.*18del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770604C>A | CA2584525843 | RAX2 | c.*17G>T (n.*17G>T) | gnomAD v4 |
19 | g.3770604C>T | CA2584525842 | RAX2 | c.*17G>A (n.*17G>A) | gnomAD v4 |
19 | g.3770605C>A | CA2584525844 | RAX2 | c.*16G>T (n.*16G>T) | gnomAD v4 |
19 | g.3770605C= | CA2319043579 | RAX2 | c.*16G= (n.*16G=) | |
19 | g.3770605C>G | CA2584525845 | RAX2 | c.*16G>C (n.*16G>C) | gnomAD v4 |
19 | g.3770605C>T | CA631522393 | RAX2 | c.*16G>A (n.*16G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3770606G>A | CA631522394 | RAX2 | c.*15C>T (n.*15C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770606G>C | CA631522395 | RAX2 | c.*15C>G (n.*15C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770606G= | CA2319043580 | RAX2 | c.*15C= (n.*15C=) | |
19 | g.3770606G>T | CA631522396 | RAX2 | c.*15C>A (n.*15C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770607G>A | CA631522397 | RAX2 | c.*14C>T (n.*14C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770607G= | CA2319043581 | RAX2 | c.*14C= (n.*14C=) | |
19 | g.3770607G>T | CA2584525846 | RAX2 | c.*14C>A (n.*14C>A) | gnomAD v4 |
19 | g.3770608G= | CA2319043582 | RAX2 | c.*13C= (n.*13C=) | |
19 | g.3770608G>T | CA631522398 | RAX2 | c.*13C>A (n.*13C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3770609A>G | CA2584525847 | RAX2 | c.*12T>C (n.*12T>C) | gnomAD v4 |
19 | g.3770609A>T | CA2584525848 | RAX2 | c.*12T>A (n.*12T>A) | gnomAD v4 |
19 | g.3770610G>T | CA2584525849 | RAX2 | c.*11C>A (n.*11C>A) | gnomAD v4 |
19 | g.3770612del | CA2576569930 | RAX2 | c.*11del (n.*11del) | gnomAD v4 |
19 | g.3770611G>T | CA2584525850 | RAX2 | c.*10C>A (n.*10C>A) | gnomAD v4 |
19 | g.3770612G>A | CA631522399 | RAX2 | c.*9C>T (n.*9C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3770612G= | CA2319043583 | RAX2 | c.*9C= (n.*9C=) | |
19 | g.3770612G>T | CA881963288 | RAX2 | c.*9C>A (n.*9C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3770613C>A | CA2584525851 | RAX2 | c.*8G>T (n.*8G>T) | gnomAD v4 |
19 | g.3770613C= | CA2319043584 | RAX2 | c.*8G= (n.*8G=) | |
19 | g.3770613C>T | CA9085024 | RAX2 | c.*8G>A (n.*8G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770614G>A | CA9085026 | RAX2 | c.*7C>T (n.*7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770614G>C | CA2576569934 | RAX2 | c.*7C>G (n.*7C>G) | gnomAD v4 |
19 | g.3770614G= | CA2319043585 | RAX2 | c.*7C= (n.*7C=) | |
19 | g.3770614G>T | CA9085025 | RAX2 | c.*7C>A (n.*7C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770614_3770615insA | CA657271941 | RAX2 | c.*6_*7insT (n.*6_*7insT) | COSMIC COSMIC |
19 | g.3770615G>A | CA2584525852 | RAX2 | c.*6C>T (n.*6C>T) | gnomAD v4 |
19 | g.3770615G>T | CA2584525853 | RAX2 | c.*6C>A (n.*6C>A) | gnomAD v4 |
19 | g.3770616C>T | CA2584525854 | RAX2 | c.*5G>A (n.*5G>A) | gnomAD v4 |
19 | g.3770618G>T | CA2584525856 | RAX2 | c.*3C>A (n.*3C>A) | gnomAD v4 |
19 | g.3770618_3770634dup | CA2584525855 | RAX2 | c.542_*3dup (n.542_*3dup) c.680_*3dup (n.680_*3dup) | gnomAD v4 |
19 | g.3770619G>A | CA2576569938 | RAX2 | c.*2C>T (n.*2C>T) | gnomAD v4 |
19 | g.3770619G>T | CA2584525857 | RAX2 | c.*2C>A (n.*2C>A) | gnomAD v4 |
19 | g.3770620C>A | CA2584525858 | RAX2 | c.*1G>T (n.*1G>T) | gnomAD v4 |
19 | g.3770621T>A | CA403373903 | RAX2 | c.555A>T (p.Ter185Cys) c.693A>T (p.Ter231Cys) | |
19 | g.3770621T>C | CA403373904 | RAX2 | c.555A>G (p.Ter185Trp) c.693A>G (p.Ter231Trp) | |
19 | g.3770621T>G | CA403373905 | RAX2 | c.555A>C (p.Ter185Cys) c.693A>C (p.Ter231Cys) | |
19 | g.3770622C>A | CA403373906 | RAX2 | c.554G>T (p.Ter185Leu) c.692G>T (p.Ter231Leu) | gnomAD v4 |
19 | g.3770622C>G | CA403373907 | RAX2 | c.554G>C (p.Ter185Ser) c.692G>C (p.Ter231Ser) | gnomAD v4 |
19 | g.3770622C>T | CA504979189 | RAX2 | c.554G>A (p.Ter185=) c.692G>A (p.Ter231=) | gnomAD v4 |
19 | g.3770623A>C | CA403373908 | RAX2 | c.553T>G (p.Ter185Gly) c.691T>G (p.Ter231Gly) | |
19 | g.3770623A>G | CA403373909 | RAX2 | c.553T>C (p.Ter185Arg) c.691T>C (p.Ter231Arg) | gnomAD v4 |
19 | g.3770623A>T | CA403373910 | RAX2 | c.553T>A (p.Ter185Arg) c.691T>A (p.Ter231Arg) | |
19 | g.3770624G>A | CA504979191 | RAX2 | c.552C>T (p.Ala184=) c.690C>T (p.Ala230=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770624G>C | CA504979192 | RAX2 | c.552C>G (p.Ala184=) c.690C>G (p.Ala230=) | |
19 | g.3770624G= | CA2319043586 | RAX2 | c.552C= (p.Ala184=) c.690C= (p.Ala230=) | |
19 | g.3770624G>T | CA504979193 | RAX2 | c.552C>A (p.Ala184=) c.690C>A (p.Ala230=) | gnomAD v4 |
19 | g.3770625G>A | CA403373911 | RAX2 | c.551C>T (p.Ala184Val) c.689C>T (p.Ala230Val) | gnomAD v4 |
19 | g.3770625G>C | CA403373912 | RAX2 | c.551C>G (p.Ala184Gly) c.689C>G (p.Ala230Gly) | |
19 | g.3770625G>T | CA403373913 | RAX2 | c.551C>A (p.Ala184Asp) c.689C>A (p.Ala230Asp) | gnomAD v4 |
19 | g.3770626C>A | CA403373914 | RAX2 | c.550G>T (p.Ala184Ser) c.688G>T (p.Ala230Ser) | gnomAD v4 |
19 | g.3770626C>G | CA403373916 | RAX2 | c.550G>C (p.Ala184Pro) c.688G>C (p.Ala230Pro) | |
19 | g.3770626C>T | CA403373915 | RAX2 | c.550G>A (p.Ala184Thr) c.688G>A (p.Ala230Thr) | ClinVar |
19 | g.3770627T>A | CA504979197 | RAX2 | c.549A>T (p.Pro183=) c.687A>T (p.Pro229=) | gnomAD v4 |
19 | g.3770627T>C | CA504979198 | RAX2 | c.549A>G (p.Pro183=) c.687A>G (p.Pro229=) | gnomAD v4 |
19 | g.3770627T>G | CA504979199 | RAX2 | c.549A>C (p.Pro183=) c.687A>C (p.Pro229=) | |
19 | g.3770628G>A | CA403373917 | RAX2 | c.548C>T (p.Pro183Leu) c.686C>T (p.Pro229Leu) | gnomAD v4 |
19 | g.3770628G>C | CA403373918 | RAX2 | c.548C>G (p.Pro183Arg) c.686C>G (p.Pro229Arg) | |
19 | g.3770628G>T | CA403373919 | RAX2 | c.548C>A (p.Pro183Gln) c.686C>A (p.Pro229Gln) | gnomAD v4 |
19 | g.3770629G>A | CA403373920 | RAX2 | c.547C>T (p.Pro183Ser) c.685C>T (p.Pro229Ser) | gnomAD v4 |
19 | g.3770629G>C | CA403373921 | RAX2 | c.547C>G (p.Pro183Ala) c.685C>G (p.Pro229Ala) | |
19 | g.3770629G= | CA2319043587 | RAX2 | c.547C= (p.Pro183=) c.685C= (p.Pro229=) | |
19 | g.3770629G>T | CA403373922 | RAX2 | c.547C>A (p.Pro183Thr) c.685C>A (p.Pro229Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770630C>A | CA504979200 | RAX2 | c.546G>T (p.Pro182=) c.684G>T (p.Pro228=) | gnomAD v4 |
19 | g.3770630C= | CA2319043588 | RAX2 | c.546G= (p.Pro182=) c.684G= (p.Pro228=) | |
19 | g.3770630C>G | CA304416590 | RAX2 | c.546G>C (p.Pro182=) c.684G>C (p.Pro228=) | dbSNP gnomAD v4 |
19 | g.3770630C>T | CA9085027 | RAX2 | c.546G>A (p.Pro182=) c.684G>A (p.Pro228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770631G>A | CA403373923 | RAX2 | c.545C>T (p.Pro182Leu) c.683C>T (p.Pro228Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3770631G>C | CA403373924 | RAX2 | c.545C>G (p.Pro182Arg) c.683C>G (p.Pro228Arg) | |
19 | g.3770631G= | CA2319043589 | RAX2 | c.545C= (p.Pro182=) c.683C= (p.Pro228=) | |
19 | g.3770631G>T | CA403373925 | RAX2 | c.545C>A (p.Pro182Gln) c.683C>A (p.Pro228Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.3770632G>A | CA403373929 | RAX2 | c.544C>T (p.Pro182Ser) c.682C>T (p.Pro228Ser) | ClinVar dbSNP gnomAD v4 |
19 | g.3770632G>C | CA403373928 | RAX2 | c.544C>G (p.Pro182Ala) c.682C>G (p.Pro228Ala) | |
19 | g.3770632G= | CA2319043590 | RAX2 | c.544C= (p.Pro182=) c.682C= (p.Pro228=) | |
19 | g.3770632G>T | CA403373926 | RAX2 | c.544C>A (p.Pro182Thr) c.682C>A (p.Pro228Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770633C>A | CA403373931 | RAX2 | c.543G>T (p.Trp181Cys) c.681G>T (p.Trp227Cys) | gnomAD v4 |
19 | g.3770633C>G | CA403373932 | RAX2 | c.543G>C (p.Trp181Cys) c.681G>C (p.Trp227Cys) | dbSNP gnomAD v4 |
19 | g.3770633C>T | CA403373934 | RAX2 | c.543G>A (p.Trp181Ter) c.681G>A (p.Trp227Ter) | gnomAD v4 |
19 | g.3770634C>A | CA403373935 | RAX2 | c.542G>T (p.Trp181Leu) c.680G>T (p.Trp227Leu) | |
19 | g.3770634C>G | CA403373937 | RAX2 | c.542G>C (p.Trp181Ser) c.680G>C (p.Trp227Ser) | |
19 | g.3770634C>T | CA403373939 | RAX2 | c.542G>A (p.Trp181Ter) c.680G>A (p.Trp227Ter) | gnomAD v4 |
19 | g.3770635A>C | CA403373941 | RAX2 | c.541T>G (p.Trp181Gly) c.679T>G (p.Trp227Gly) | |
19 | g.3770635A>G | CA403373942 | RAX2 | c.541T>C (p.Trp181Arg) c.679T>C (p.Trp227Arg) | gnomAD v4 |
19 | g.3770635A>T | CA403373947 | RAX2 | c.541T>A (p.Trp181Arg) c.679T>A (p.Trp227Arg) | |
19 | g.3770636G>A | CA504979202 | RAX2 | c.540C>T (p.Ala180=) c.678C>T (p.Ala226=) | |
19 | g.3770636G>C | CA504979203 | RAX2 | c.540C>G (p.Ala180=) c.678C>G (p.Ala226=) | |
19 | g.3770636G>T | CA504979204 | RAX2 | c.540C>A (p.Ala180=) c.678C>A (p.Ala226=) | gnomAD v4 |
19 | g.3770637G>A | CA403373949 | RAX2 | c.539C>T (p.Ala180Val) c.677C>T (p.Ala226Val) | gnomAD v4 |
19 | g.3770637G>C | CA403373950 | RAX2 | c.539C>G (p.Ala180Gly) c.677C>G (p.Ala226Gly) | |
19 | g.3770637G>T | CA403373952 | RAX2 | c.539C>A (p.Ala180Asp) c.677C>A (p.Ala226Asp) | gnomAD v4 |
19 | g.3770638C>A | CA304416595 | RAX2 | c.538G>T (p.Ala180Ser) c.676G>T (p.Ala226Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3770638C= | CA2319043591 | RAX2 | c.538G= (p.Ala180=) c.676G= (p.Ala226=) | |
19 | g.3770638C>G | CA403373956 | RAX2 | c.538G>C (p.Ala180Pro) c.676G>C (p.Ala226Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.3770638C>T | CA403373954 | RAX2 | c.538G>A (p.Ala180Thr) c.676G>A (p.Ala226Thr) | gnomAD v4 |
19 | g.3770639C>A | CA403373958 | RAX2 | c.537G>T (p.Arg179Ser) c.675G>T (p.Arg225Ser) | gnomAD v4 |
19 | g.3770639C>G | CA403373960 | RAX2 | c.537G>C (p.Arg179Ser) c.675G>C (p.Arg225Ser) | gnomAD v4 |
19 | g.3770639C>T | CA504979206 | RAX2 | c.537G>A (p.Arg179=) c.675G>A (p.Arg225=) | |
19 | g.3770640C>A | CA403373962 | RAX2 | c.536G>T (p.Arg179Met) c.674G>T (p.Arg225Met) | |
19 | g.3770640C>G | CA403373963 | RAX2 | c.536G>C (p.Arg179Thr) c.674G>C (p.Arg225Thr) | |
19 | g.3770640C>T | CA403373969 | RAX2 | c.536G>A (p.Arg179Lys) c.674G>A (p.Arg225Lys) | gnomAD v4 |
19 | g.3770641T>A | CA403373971 | RAX2 | c.535A>T (p.Arg179Trp) c.673A>T (p.Arg225Trp) | gnomAD v4 |
19 | g.3770641T>C | CA304416598 | RAX2 | c.535A>G (p.Arg179Gly) c.673A>G (p.Arg225Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770641T>G | CA504979207 | RAX2 | c.535A>C (p.Arg179=) c.673A>C (p.Arg225=) | |
19 | g.3770641T= | CA2319043592 | RAX2 | c.535A= (p.Arg179=) c.673A= (p.Arg225=) | |
19 | g.3770642G>A | CA504979208 | RAX2 | c.534C>T (p.Asp178=) c.672C>T (p.Asp224=) | gnomAD v4 |
19 | g.3770642G>C | CA403373973 | RAX2 | c.534C>G (p.Asp178Glu) c.672C>G (p.Asp224Glu) | |
19 | g.3770642G>T | CA403373974 | RAX2 | c.534C>A (p.Asp178Glu) c.672C>A (p.Asp224Glu) | gnomAD v4 |
19 | g.3770643T>A | CA403373976 | RAX2 | c.533A>T (p.Asp178Val) c.671A>T (p.Asp224Val) | |
19 | g.3770643T>C | CA403373977 | RAX2 | c.533A>G (p.Asp178Gly) c.671A>G (p.Asp224Gly) | ClinVar gnomAD v4 |
19 | g.3770643T>G | CA403373979 | RAX2 | c.533A>C (p.Asp178Ala) c.671A>C (p.Asp224Ala) | |
19 | g.3770644C>A | CA403373982 | RAX2 | c.532G>T (p.Asp178Tyr) c.670G>T (p.Asp224Tyr) | gnomAD v4 |
19 | g.3770644C>G | CA403373981 | RAX2 | c.532G>C (p.Asp178His) c.670G>C (p.Asp224His) | |
19 | g.3770644C>T | CA403373980 | RAX2 | c.532G>A (p.Asp178Asn) c.670G>A (p.Asp224Asn) | gnomAD v4 |
19 | g.3770645C>A | CA504979210 | RAX2 | c.531G>T (p.Leu177=) c.669G>T (p.Leu223=) | gnomAD v4 |
19 | g.3770645C>G | CA504979211 | RAX2 | c.531G>C (p.Leu177=) c.669G>C (p.Leu223=) | |
19 | g.3770645C>T | CA504979212 | RAX2 | c.531G>A (p.Leu177=) c.669G>A (p.Leu223=) | |
19 | g.3770646A>C | CA403373983 | RAX2 | c.530T>G (p.Leu177Arg) c.668T>G (p.Leu223Arg) | |
19 | g.3770646A>G | CA403373984 | RAX2 | c.530T>C (p.Leu177Pro) c.668T>C (p.Leu223Pro) | gnomAD v4 |
19 | g.3770646A>T | CA403373985 | RAX2 | c.530T>A (p.Leu177Gln) c.668T>A (p.Leu223Gln) | gnomAD v4 |
19 | g.3770648_3770649del | CA2584525859 | RAX2 | c.529_530del (p.Leu177GlyfsTer?) c.667_668del (p.Leu223GlyfsTer?) | gnomAD v4 |
19 | g.3770647G>A | CA504979213 | RAX2 | c.529C>T (p.Leu177=) c.667C>T (p.Leu223=) | gnomAD v4 |
19 | g.3770647G>C | CA403373986 | RAX2 | c.529C>G (p.Leu177Val) c.667C>G (p.Leu223Val) | |
19 | g.3770647G= | CA2319043593 | RAX2 | c.529C= (p.Leu177=) c.667C= (p.Leu223=) | |
19 | g.3770647G>T | CA403373987 | RAX2 | c.529C>A (p.Leu177Met) c.667C>A (p.Leu223Met) | dbSNP gnomAD v4 |
19 | g.3770648A>C | CA504979214 | RAX2 | c.528T>G (p.Ala176=) c.666T>G (p.Ala222=) | |
19 | g.3770648A>G | CA504979215 | RAX2 | c.528T>C (p.Ala176=) c.666T>C (p.Ala222=) | gnomAD v4 |
19 | g.3770648A>T | CA504979216 | RAX2 | c.528T>A (p.Ala176=) c.666T>A (p.Ala222=) | |
19 | g.3770649G>A | CA403373988 | RAX2 | c.527C>T (p.Ala176Val) c.665C>T (p.Ala222Val) | gnomAD v4 |
19 | g.3770649G>C | CA403373989 | RAX2 | c.527C>G (p.Ala176Gly) c.665C>G (p.Ala222Gly) | COSMIC |
19 | g.3770649G>T | CA403373990 | RAX2 | c.527C>A (p.Ala176Asp) c.665C>A (p.Ala222Asp) | gnomAD v4 |
19 | g.3770650C>A | CA403373991 | RAX2 | c.526G>T (p.Ala176Ser) c.664G>T (p.Ala222Ser) | gnomAD v4 |
19 | g.3770650C= | CA2319043594 | RAX2 | c.526G= (p.Ala176=) c.664G= (p.Ala222=) | |
19 | g.3770650C>G | CA403373992 | RAX2 | c.526G>C (p.Ala176Pro) c.664G>C (p.Ala222Pro) | |
19 | g.3770650C>T | CA403373993 | RAX2 | c.526G>A (p.Ala176Thr) c.664G>A (p.Ala222Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3770651C>A | CA403373994 | RAX2 | c.525G>T (p.Gln175His) c.663G>T (p.Gln221His) | gnomAD v4 |
19 | g.3770651C>G | CA403373996 | RAX2 | c.525G>C (p.Gln175His) c.663G>C (p.Gln221His) | |
19 | g.3770651C>T | CA504979219 | RAX2 | c.525G>A (p.Gln175=) c.663G>A (p.Gln221=) | |
19 | g.3770652T>A | CA403374000 | RAX2 | c.524A>T (p.Gln175Leu) c.662A>T (p.Gln221Leu) | |
19 | g.3770652T>C | CA403373998 | RAX2 | c.524A>G (p.Gln175Arg) c.662A>G (p.Gln221Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3770652T>G | CA403373997 | RAX2 | c.524A>C (p.Gln175Pro) c.662A>C (p.Gln221Pro) | dbSNP |
19 | g.3770652T= | CA2319043595 | RAX2 | c.524A= (p.Gln175=) c.662A= (p.Gln221=) | |
19 | g.3770654_3770655del | CA2813344233 | RAX2 | c.523_524del (p.Gln175GlyfsTer?) c.661_662del (p.Gln221GlyfsTer?) | |
19 | g.3770653G>A | CA403374002 | RAX2 | c.523C>T (p.Gln175Ter) c.661C>T (p.Gln221Ter) | |
19 | g.3770653G>C | CA403374004 | RAX2 | c.523C>G (p.Gln175Glu) c.661C>G (p.Gln221Glu) | |
19 | g.3770653G>T | CA403374005 | RAX2 | c.523C>A (p.Gln175Lys) c.661C>A (p.Gln221Lys) | gnomAD v4 |
19 | g.3770654T>A | CA504979220 | RAX2 | c.522A>T (p.Ala174=) c.660A>T (p.Ala220=) | gnomAD v4 |
19 | g.3770654T>C | CA504979222 | RAX2 | c.522A>G (p.Ala174=) c.660A>G (p.Ala220=) | |
19 | g.3770654T>G | CA504979223 | RAX2 | c.522A>C (p.Ala174=) c.660A>C (p.Ala220=) | |
19 | g.3770655G>A | CA403374006 | RAX2 | c.521C>T (p.Ala174Val) c.659C>T (p.Ala220Val) | gnomAD v4 |
19 | g.3770655G>C | CA403374007 | RAX2 | c.521C>G (p.Ala174Gly) c.659C>G (p.Ala220Gly) | |
19 | g.3770655G>T | CA403374009 | RAX2 | c.521C>A (p.Ala174Glu) c.659C>A (p.Ala220Glu) | gnomAD v4 |
19 | g.3770656C>A | CA403374012 | RAX2 | c.520G>T (p.Ala174Ser) c.658G>T (p.Ala220Ser) | ClinVar gnomAD v4 |
19 | g.3770656C= | CA2319043596 | RAX2 | c.520G= (p.Ala174=) c.658G= (p.Ala220=) | |
19 | g.3770656C>G | CA403374013 | RAX2 | c.520G>C (p.Ala174Pro) c.658G>C (p.Ala220Pro) | |
19 | g.3770656C>T | CA403374015 | RAX2 | c.520G>A (p.Ala174Thr) c.658G>A (p.Ala220Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3770657A>C | CA403374016 | RAX2 | c.519T>G (p.His173Gln) c.657T>G (p.His219Gln) | |
19 | g.3770657A>G | CA504979226 | RAX2 | c.519T>C (p.His173=) c.657T>C (p.His219=) | dbSNP gnomAD v4 |
19 | g.3770657A>T | CA403374018 | RAX2 | c.519T>A (p.His173Gln) c.657T>A (p.His219Gln) | |
19 | g.3770657_3770658insCG | CA2813344234 | RAX2 | c.518_519insCG (p.Ala174ValfsTer?) c.656_657insCG (p.Ala220ValfsTer?) | |
19 | g.3770658T>A | CA403374020 | RAX2 | c.518A>T (p.His173Leu) c.656A>T (p.His219Leu) | |
19 | g.3770658T>C | CA403374021 | RAX2 | c.518A>G (p.His173Arg) c.656A>G (p.His219Arg) | gnomAD v4 |
19 | g.3770658T>G | CA403374023 | RAX2 | c.518A>C (p.His173Pro) c.656A>C (p.His219Pro) | |
19 | g.3770659G>A | CA403374026 | RAX2 | c.517C>T (p.His173Tyr) c.655C>T (p.His219Tyr) | gnomAD v4 |
19 | g.3770659G>C | CA403374028 | RAX2 | c.517C>G (p.His173Asp) c.655C>G (p.His219Asp) | gnomAD v4 |
19 | g.3770659G>T | CA403374025 | RAX2 | c.517C>A (p.His173Asn) c.655C>A (p.His219Asn) | gnomAD v4 |
19 | g.3770660T>A | CA403374030 | RAX2 | c.516A>T (p.Glu172Asp) c.654A>T (p.Glu218Asp) | ClinVar dbSNP |
19 | g.3770660T>C | CA504979227 | RAX2 | c.516A>G (p.Glu172=) c.654A>G (p.Glu218=) | dbSNP gnomAD v4 |
19 | g.3770660T>G | CA403374034 | RAX2 | c.516A>C (p.Glu172Asp) c.654A>C (p.Glu218Asp) | |
19 | g.3770660T= | CA2319043597 | RAX2 | c.516A= (p.Glu172=) c.654A= (p.Glu218=) | |
19 | g.3770661T>A | CA403374035 | RAX2 | c.515A>T (p.Glu172Val) c.653A>T (p.Glu218Val) | |
19 | g.3770661T>C | CA403374036 | RAX2 | c.515A>G (p.Glu172Gly) c.653A>G (p.Glu218Gly) | gnomAD v4 |
19 | g.3770661T>G | CA403374038 | RAX2 | c.515A>C (p.Glu172Ala) c.653A>C (p.Glu218Ala) | |
19 | g.3770662C>A | CA403374040 | RAX2 | c.514G>T (p.Glu172Ter) c.652G>T (p.Glu218Ter) | gnomAD v4 |
19 | g.3770662C= | CA2319043598 | RAX2 | c.514G= (p.Glu172=) c.652G= (p.Glu218=) | |
19 | g.3770662C>G | CA403374042 | RAX2 | c.514G>C (p.Glu172Gln) c.652G>C (p.Glu218Gln) | gnomAD v4 |
19 | g.3770662C>T | CA9085028 | RAX2 | c.514G>A (p.Glu172Lys) c.652G>A (p.Glu218Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3770663C>A | CA403374044 | RAX2 | c.513G>T (p.Lys171Asn) c.651G>T (p.Lys217Asn) | |
19 | g.3770663C>G | CA403374046 | RAX2 | c.513G>C (p.Lys171Asn) c.651G>C (p.Lys217Asn) | ClinVar dbSNP |
19 | g.3770663C>T | CA504979228 | RAX2 | c.513G>A (p.Lys171=) c.651G>A (p.Lys217=) | |
19 | g.3770664T>A | CA403374047 | RAX2 | c.512A>T (p.Lys171Met) c.650A>T (p.Lys217Met) | gnomAD v4 COSMIC |
19 | g.3770664T>C | CA403374048 | RAX2 | c.512A>G (p.Lys171Arg) c.650A>G (p.Lys217Arg) | gnomAD v4 |
19 | g.3770664T>G | CA403374050 | RAX2 | c.512A>C (p.Lys171Thr) c.650A>C (p.Lys217Thr) | |
19 | g.3770665T>A | CA403374052 | RAX2 | c.511A>T (p.Lys171Ter) c.649A>T (p.Lys217Ter) | |
19 | g.3770665T>C | CA403374055 | RAX2 | c.511A>G (p.Lys171Glu) c.649A>G (p.Lys217Glu) | ClinVar gnomAD v4 |
19 | g.3770665T>G | CA403374053 | RAX2 | c.511A>C (p.Lys171Gln) c.649A>C (p.Lys217Gln) | |
19 | g.3770666G>A | CA304416603 | RAX2 | c.510C>T (p.Ala170=) c.648C>T (p.Ala216=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.3770666G>C | CA504979232 | RAX2 | c.510C>G (p.Ala170=) c.648C>G (p.Ala216=) | |
19 | g.3770666G= | CA2319043599 | RAX2 | c.510C= (p.Ala170=) c.648C= (p.Ala216=) | |
19 | g.3770666G>T | CA504979231 | RAX2 | c.510C>A (p.Ala170=) c.648C>A (p.Ala216=) | gnomAD v4 |
19 | g.3770667G>A | CA403374058 | RAX2 | c.509C>T (p.Ala170Val) c.647C>T (p.Ala216Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770667G>C | CA403374061 | RAX2 | c.509C>G (p.Ala170Gly) c.647C>G (p.Ala216Gly) | |
19 | g.3770667G= | CA2319043600 | RAX2 | c.509C= (p.Ala170=) c.647C= (p.Ala216=) | |
19 | g.3770667G>T | CA403374063 | RAX2 | c.509C>A (p.Ala170Asp) c.647C>A (p.Ala216Asp) | gnomAD v4 |
19 | g.3770668C>A | CA403374066 | RAX2 | c.508G>T (p.Ala170Ser) c.646G>T (p.Ala216Ser) | gnomAD v4 |
19 | g.3770668C= | CA2319043601 | RAX2 | c.508G= (p.Ala170=) c.646G= (p.Ala216=) | |
19 | g.3770668C>G | CA403374067 | RAX2 | c.508G>C (p.Ala170Pro) c.646G>C (p.Ala216Pro) | |
19 | g.3770668C>T | CA403374068 | RAX2 | c.508G>A (p.Ala170Thr) c.646G>A (p.Ala216Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3770669C>A | CA504979233 | RAX2 | c.507G>T (p.Leu169=) c.645G>T (p.Leu215=) | gnomAD v4 |
19 | g.3770669C>G | CA504979236 | RAX2 | c.507G>C (p.Leu169=) c.645G>C (p.Leu215=) | gnomAD v4 |
19 | g.3770669C>T | CA504979234 | RAX2 | c.507G>A (p.Leu169=) c.645G>A (p.Leu215=) | gnomAD v4 |
19 | g.3770670A= | CA2319043602 | RAX2 | c.506T= (p.Leu169=) c.644T= (p.Leu215=) | |
19 | g.3770670A>C | CA403374070 | RAX2 | c.506T>G (p.Leu169Arg) c.644T>G (p.Leu215Arg) | ClinVar dbSNP |
19 | g.3770670A>G | CA403374071 | RAX2 | c.506T>C (p.Leu169Pro) c.644T>C (p.Leu215Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.3770670A>T | CA403374073 | RAX2 | c.506T>A (p.Leu169Gln) c.644T>A (p.Leu215Gln) | |
19 | g.3770671G>A | CA504979239 | RAX2 | c.505C>T (p.Leu169=) c.643C>T (p.Leu215=) | gnomAD v4 |
19 | g.3770671G>C | CA403374076 | RAX2 | c.505C>G (p.Leu169Val) c.643C>G (p.Leu215Val) | |
19 | g.3770671G>T | CA403374077 | RAX2 | c.505C>A (p.Leu169Met) c.643C>A (p.Leu215Met) | gnomAD v4 |
19 | g.3770672C>A | CA504979240 | RAX2 | c.504G>T (p.Leu168=) c.642G>T (p.Leu214=) | gnomAD v4 |
19 | g.3770672C= | CA2319043603 | RAX2 | c.504G= (p.Leu168=) c.642G= (p.Leu214=) | |
19 | g.3770672C>G | CA504979241 | RAX2 | c.504G>C (p.Leu168=) c.642G>C (p.Leu214=) | |
19 | g.3770672C>T | CA504979242 | RAX2 | c.504G>A (p.Leu168=) c.642G>A (p.Leu214=) | dbSNP gnomAD v4 |
19 | g.3770673A>C | CA403374082 | RAX2 | c.503T>G (p.Leu168Arg) c.641T>G (p.Leu214Arg) | gnomAD v4 |
19 | g.3770673A>G | CA403374084 | RAX2 | c.503T>C (p.Leu168Pro) c.641T>C (p.Leu214Pro) | gnomAD v4 |
19 | g.3770673A>T | CA403374080 | RAX2 | c.503T>A (p.Leu168Gln) c.641T>A (p.Leu214Gln) | gnomAD v4 |
19 | g.3770674G>A | CA505157972 | RAX2 | c.502C>T (p.Leu168=) c.640C>T (p.Leu214=) | |
19 | g.3770674G>C | CA403374088 | RAX2 | c.502C>G (p.Leu168Val) c.640C>G (p.Leu214Val) | |
19 | g.3770674G>T | CA403374087 | RAX2 | c.502C>A (p.Leu168Met) c.640C>A (p.Leu214Met) | gnomAD v4 |
19 | g.3770675C>A | CA505157973 | RAX2 | c.501G>T (p.Arg167=) c.639G>T (p.Arg213=) | gnomAD v4 |
19 | g.3770675C= | CA2319043604 | RAX2 | c.501G= (p.Arg167=) c.639G= (p.Arg213=) | |
19 | g.3770675C>G | CA505157974 | RAX2 | c.501G>C (p.Arg167=) c.639G>C (p.Arg213=) | |
19 | g.3770675C>T | CA505157975 | RAX2 | c.501G>A (p.Arg167=) c.639G>A (p.Arg213=) | dbSNP gnomAD v4 |
19 | g.3770676C>A | CA304416607 | RAX2 | c.500G>T (p.Arg167Leu) c.638G>T (p.Arg213Leu) | dbSNP gnomAD v4 |
19 | g.3770676C= | CA2319043605 | RAX2 | c.500G= (p.Arg167=) c.638G= (p.Arg213=) | |
19 | g.3770676C>G | CA403374091 | RAX2 | c.500G>C (p.Arg167Pro) c.638G>C (p.Arg213Pro) | dbSNP |
19 | g.3770676C>T | CA9085029 | RAX2 | c.500G>A (p.Arg167Gln) c.638G>A (p.Arg213Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770677G>A | CA304416611 | RAX2 | c.499C>T (p.Arg167Trp) c.637C>T (p.Arg213Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770677G>C | CA403374096 | RAX2 | c.499C>G (p.Arg167Gly) c.637C>G (p.Arg213Gly) | |
19 | g.3770677G= | CA2319043606 | RAX2 | c.499C= (p.Arg167=) c.637C= (p.Arg213=) | |
19 | g.3770677G>T | CA304416614 | RAX2 | c.499C>A (p.Arg167=) c.637C>A (p.Arg213=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3770678C>A | CA505157982 | RAX2 | c.498G>T (p.Leu166=) c.636G>T (p.Leu212=) | gnomAD v4 |
19 | g.3770678C>G | CA505157983 | RAX2 | c.498G>C (p.Leu166=) c.636G>C (p.Leu212=) | |
19 | g.3770678C>T | CA505157984 | RAX2 | c.498G>A (p.Leu166=) c.636G>A (p.Leu212=) | gnomAD v4 |
19 | g.3770679A>C | CA403374099 | RAX2 | c.497T>G (p.Leu166Arg) c.635T>G (p.Leu212Arg) | |
19 | g.3770679A>G | CA403374101 | RAX2 | c.497T>C (p.Leu166Pro) c.635T>C (p.Leu212Pro) | gnomAD v4 |
19 | g.3770679A>T | CA403374104 | RAX2 | c.497T>A (p.Leu166Gln) c.635T>A (p.Leu212Gln) | |
19 | g.3770680G>A | CA505157988 | RAX2 | c.496C>T (p.Leu166=) c.634C>T (p.Leu212=) | gnomAD v4 |
19 | g.3770680G>C | CA403374106 | RAX2 | c.496C>G (p.Leu166Val) c.634C>G (p.Leu212Val) | |
19 | g.3770680G>T | CA403374108 | RAX2 | c.496C>A (p.Leu166Met) c.634C>A (p.Leu212Met) | gnomAD v4 |
19 | g.3770682del | CA2584525860 | RAX2 | c.496del (p.Leu166CysfsTer?) c.634del (p.Leu212CysfsTer?) | gnomAD v4 |
19 | g.3770681G>A | CA505157992 | RAX2 | c.495C>T (p.Ser165=) c.633C>T (p.Ser211=) | dbSNP |
19 | g.3770681G>C | CA505157993 | RAX2 | c.495C>G (p.Ser165=) c.633C>G (p.Ser211=) | |
19 | g.3770681G= | CA2319043607 | RAX2 | c.495C= (p.Ser165=) c.633C= (p.Ser211=) | |
19 | g.3770681G>T | CA505157995 | RAX2 | c.495C>A (p.Ser165=) c.633C>A (p.Ser211=) | gnomAD v4 |
19 | g.3770682G>A | CA403374110 | RAX2 | c.494C>T (p.Ser165Phe) c.632C>T (p.Ser211Phe) | gnomAD v4 |
19 | g.3770682G>C | CA403374112 | RAX2 | c.494C>G (p.Ser165Cys) c.632C>G (p.Ser211Cys) | |
19 | g.3770682G= | CA2319043608 | RAX2 | c.494C= (p.Ser165=) c.632C= (p.Ser211=) | |
19 | g.3770682G>T | CA304416617 | RAX2 | c.494C>A (p.Ser165Tyr) c.632C>A (p.Ser211Tyr) | dbSNP gnomAD v4 |