Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.10489592_10489611delinsCCCCAGGATGGTAGGGGGTG | CA2322454355 | KEAP1 | c.1531+37_1531+56delinsCACCCCCTACCATCCTGGGG (n.1531+37_1531+56delinsCACCCCCTACCATCCTGGGG) c.305-243_305-224delinsCACCCCCTACCATCCTGGGG c.350+37_350+56delinsCACCCCCTACCATCCTGGGG | |
19 | g.10489593_10489611del | CA783182064 | KEAP1 | c.1531+37_1531+55del (n.1531+37_1531+55del) c.305-243_305-225del c.350+37_350+55del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.10489609dup | CA9195447 | KEAP1 | c.1531+43dup (n.1531+43dup) c.305-237dup c.350+43dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10489606G>A | CA9195448 | KEAP1 | c.1531+42C>T (n.1531+42C>T) c.305-238C>T c.350+42C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10489606G>C | CA632056129 | KEAP1 | c.1531+42C>G (n.1531+42C>G) c.305-238C>G c.350+42C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.10489606G= | CA2322454359 | KEAP1 | c.1531+42C= (n.1531+42C=) c.305-238C= c.350+42C= | |
19 | g.10489606G>T | CA2735343439 | KEAP1 | c.1531+42C>A (n.1531+42C>A) c.305-238C>A c.350+42C>A | dbSNP |
19 | g.10489607G>A | CA2582389793 | KEAP1 | c.1531+41C>T (n.1531+41C>T) c.305-239C>T c.350+41C>T | dbSNP gnomAD v4 |
19 | g.10489607G>C | CA2735432791 | KEAP1 | c.1531+41C>G (n.1531+41C>G) c.305-239C>G c.350+41C>G | dbSNP |
19 | g.10489607G>T | CA2576620320 | KEAP1 | c.1531+41C>A (n.1531+41C>A) c.305-239C>A c.350+41C>A | dbSNP gnomAD v4 |
19 | g.10489608G>A | CA305199806 | KEAP1 | c.1531+40C>T (n.1531+40C>T) c.305-240C>T c.350+40C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.10489608G>C | CA2735353847 | KEAP1 | c.1531+40C>G (n.1531+40C>G) c.305-240C>G c.350+40C>G | dbSNP |
19 | g.10489608G= | CA2322454361 | KEAP1 | c.1531+40C= (n.1531+40C=) c.305-240C= c.350+40C= | |
19 | g.10489608G>T | CA2735353846 | KEAP1 | c.1531+40C>A (n.1531+40C>A) c.305-240C>A c.350+40C>A | dbSNP |
19 | g.10489609G>A | CA2582389794 | KEAP1 | c.1531+39C>T (n.1531+39C>T) c.305-241C>T c.350+39C>T | gnomAD v4 |
19 | g.10489609G>T | CA2576620321 | KEAP1 | c.1531+39C>A (n.1531+39C>A) c.305-241C>A c.350+39C>A | |
19 | g.10489610T>A | CA2735432792 | KEAP1 | c.1531+38A>T (n.1531+38A>T) c.305-242A>T c.350+38A>T | dbSNP |
19 | g.10489610T>G | CA2735432793 | KEAP1 | c.1531+38A>C (n.1531+38A>C) c.305-242A>C c.350+38A>C | dbSNP |
19 | g.10489612T>A | CA2322454364 | KEAP1 | c.1531+36A>T (n.1531+36A>T) c.305-244A>T c.350+36A>T | dbSNP gnomAD v4 |
19 | g.10489612T>C | CA2582389795 | KEAP1 | c.1531+36A>G (n.1531+36A>G) c.305-244A>G c.350+36A>G | dbSNP gnomAD v4 |
19 | g.10489612T>G | CA2735383028 | KEAP1 | c.1531+36A>C (n.1531+36A>C) c.305-244A>C c.350+36A>C | dbSNP |
19 | g.10489612T= | CA2322454363 | KEAP1 | c.1531+36A= (n.1531+36A=) c.305-244A= c.350+36A= | |
19 | g.10489613T>A | CA2735432794 | KEAP1 | c.1531+35A>T (n.1531+35A>T) c.305-245A>T c.350+35A>T | dbSNP |
19 | g.10489613T>G | CA2735432795 | KEAP1 | c.1531+35A>C (n.1531+35A>C) c.305-245A>C c.350+35A>C | dbSNP |
19 | g.10489613_10489614delinsTC | CA2322454365 | KEAP1 | c.1531+34_1531+35delinsGA (n.1531+34_1531+35delinsGA) c.305-246_305-245delinsGA c.350+34_350+35delinsGA | |
19 | g.10489614C= | CA2322454367 | KEAP1 | c.1531+34G= (n.1531+34G=) c.305-246G= c.350+34G= | |
19 | g.10489614C>T | CA2322454368 | KEAP1 | c.1531+34G>A (n.1531+34G>A) c.305-246G>A c.350+34G>A | dbSNP gnomAD v4 |
19 | g.10489615del | CA2322454366 | KEAP1 | c.1531+34del (n.1531+34del) c.305-246del c.350+34del | dbSNP |
19 | g.10489615C>A | CA2735432797 | KEAP1 | c.1531+33G>T (n.1531+33G>T) c.305-247G>T c.350+33G>T | dbSNP |
19 | g.10489615C>G | CA2735432798 | KEAP1 | c.1531+33G>C (n.1531+33G>C) c.305-247G>C c.350+33G>C | dbSNP |
19 | g.10489615C>T | CA2735432796 | KEAP1 | c.1531+33G>A (n.1531+33G>A) c.305-247G>A c.350+33G>A | dbSNP |
19 | g.10489616T= | CA2322454369 | KEAP1 | c.1531+32A= (n.1531+32A=) c.305-248A= c.350+32A= | |
19 | g.10489617G>A | CA2735383033 | KEAP1 | c.1531+31C>T (n.1531+31C>T) c.305-249C>T c.350+31C>T | dbSNP |
19 | g.10489617G>C | CA2582389796 | KEAP1 | c.1531+31C>G (n.1531+31C>G) c.305-249C>G c.350+31C>G | dbSNP gnomAD v4 |
19 | g.10489617G= | CA2322454371 | KEAP1 | c.1531+31C= (n.1531+31C=) c.305-249C= c.350+31C= | |
19 | g.10489617G>T | CA2322454372 | KEAP1 | c.1531+31C>A (n.1531+31C>A) c.305-249C>A c.350+31C>A | dbSNP gnomAD v4 |
19 | g.10489619dup | CA9195449 | KEAP1 | c.1531+31dup (n.1531+31dup) c.305-249dup c.350+31dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489618G>A | CA993464767 | KEAP1 | c.1531+30C>T (n.1531+30C>T) c.305-250C>T c.350+30C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.10489618G>C | CA2735337490 | KEAP1 | c.1531+30C>G (n.1531+30C>G) c.305-250C>G c.350+30C>G | dbSNP |
19 | g.10489618G= | CA2322454373 | KEAP1 | c.1531+30C= (n.1531+30C=) c.305-250C= c.350+30C= | |
19 | g.10489618G>T | CA9195450 | KEAP1 | c.1531+30C>A (n.1531+30C>A) c.305-250C>A c.350+30C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489619G>A | CA2322454376 | KEAP1 | c.1531+29C>T (n.1531+29C>T) c.305-251C>T c.350+29C>T | dbSNP |
19 | g.10489619G>C | CA2735378533 | KEAP1 | c.1531+29C>G (n.1531+29C>G) c.305-251C>G c.350+29C>G | dbSNP |
19 | g.10489619G= | CA2322454375 | KEAP1 | c.1531+29C= (n.1531+29C=) c.305-251C= c.350+29C= | |
19 | g.10489620T>A | CA2735356546 | KEAP1 | c.1531+28A>T (n.1531+28A>T) c.305-252A>T c.350+28A>T | dbSNP |
19 | g.10489620T>C | CA783182071 | KEAP1 | c.1531+28A>G (n.1531+28A>G) c.305-252A>G c.350+28A>G | dbSNP |
19 | g.10489620T>G | CA2735356544 | KEAP1 | c.1531+28A>C (n.1531+28A>C) c.305-252A>C c.350+28A>C | dbSNP |
19 | g.10489620T= | CA2322454377 | KEAP1 | c.1531+28A= (n.1531+28A=) c.305-252A= c.350+28A= | |
19 | g.10489621G>A | CA2735432800 | KEAP1 | c.1531+27C>T (n.1531+27C>T) c.305-253C>T c.350+27C>T | dbSNP |
19 | g.10489621G>C | CA2735432799 | KEAP1 | c.1531+27C>G (n.1531+27C>G) c.305-253C>G c.350+27C>G | dbSNP |
19 | g.10489622C>A | CA2735432802 | KEAP1 | c.1531+26G>T (n.1531+26G>T) c.305-254G>T c.350+26G>T | dbSNP |
19 | g.10489622C>G | CA2735432801 | KEAP1 | c.1531+26G>C (n.1531+26G>C) c.305-254G>C c.350+26G>C | dbSNP |
19 | g.10489622C>T | CA2582389797 | KEAP1 | c.1531+26G>A (n.1531+26G>A) c.305-254G>A c.350+26G>A | dbSNP gnomAD v4 |
19 | g.10489623T>G | CA2735432804 | KEAP1 | c.1531+25A>C (n.1531+25A>C) c.305-255A>C c.350+25A>C | dbSNP |
19 | g.10489623_10489624delinsTC | CA2322454379 | KEAP1 | c.1531+24_1531+25delinsGA (n.1531+24_1531+25delinsGA) c.305-256_305-255delinsGA c.350+24_350+25delinsGA | |
19 | g.10489627del | CA2322454380 | KEAP1 | c.1531+24del (n.1531+24del) c.305-256del c.350+24del | dbSNP gnomAD v4 |
19 | g.10489625C= | CA2322454382 | KEAP1 | c.1531+23G= (n.1531+23G=) c.305-257G= c.350+23G= | |
19 | g.10489625C>G | CA9195451 | KEAP1 | c.1531+23G>C (n.1531+23G>C) c.305-257G>C c.350+23G>C | dbSNP ExAC gnomAD v2 |
19 | g.10489626C>A | CA2582389798 | KEAP1 | c.1531+22G>T (n.1531+22G>T) c.305-258G>T c.350+22G>T | dbSNP gnomAD v4 |
19 | g.10489626C>T | CA2582389799 | KEAP1 | c.1531+22G>A (n.1531+22G>A) c.305-258G>A c.350+22G>A | dbSNP gnomAD v4 |
19 | g.10489627C>A | CA2735383034 | KEAP1 | c.1531+21G>T (n.1531+21G>T) c.305-259G>T c.350+21G>T | dbSNP |
19 | g.10489627C= | CA2322454383 | KEAP1 | c.1531+21G= (n.1531+21G=) c.305-259G= c.350+21G= | |
19 | g.10489627C>T | CA2322454384 | KEAP1 | c.1531+21G>A (n.1531+21G>A) c.305-259G>A c.350+21G>A | dbSNP |
19 | g.10489628T>A | CA2735432806 | KEAP1 | c.1531+20A>T (n.1531+20A>T) c.305-260A>T c.350+20A>T | dbSNP |
19 | g.10489628T>C | CA2735432805 | KEAP1 | c.1531+20A>G (n.1531+20A>G) c.305-260A>G c.350+20A>G | dbSNP |
19 | g.10489629C>A | CA2735432807 | KEAP1 | c.1531+19G>T (n.1531+19G>T) c.305-261G>T c.350+19G>T | dbSNP |
19 | g.10489629C>G | CA2735432808 | KEAP1 | c.1531+19G>C (n.1531+19G>C) c.305-261G>C c.350+19G>C | dbSNP |
19 | g.10489629C>T | CA2576620322 | KEAP1 | c.1531+19G>A (n.1531+19G>A) c.305-261G>A c.350+19G>A | dbSNP |
19 | g.10489630C>A | CA2735432811 | KEAP1 | c.1531+18G>T (n.1531+18G>T) c.305-262G>T c.350+18G>T | dbSNP |
19 | g.10489630C>G | CA2735432809 | KEAP1 | c.1531+18G>C (n.1531+18G>C) c.305-262G>C c.350+18G>C | dbSNP |
19 | g.10489630C>T | CA2735432810 | KEAP1 | c.1531+18G>A (n.1531+18G>A) c.305-262G>A c.350+18G>A | dbSNP |
19 | g.10489631C>A | CA632056130 | KEAP1 | c.1531+17G>T (n.1531+17G>T) c.305-263G>T c.350+17G>T | dbSNP gnomAD v2 |
19 | g.10489631C= | CA2322454385 | KEAP1 | c.1531+17G= (n.1531+17G=) c.305-263G= c.350+17G= | |
19 | g.10489631C>T | CA2735362455 | KEAP1 | c.1531+17G>A (n.1531+17G>A) c.305-263G>A c.350+17G>A | dbSNP |
19 | g.10489632T>A | CA2735343440 | KEAP1 | c.1531+16A>T (n.1531+16A>T) c.305-264A>T c.350+16A>T | dbSNP |
19 | g.10489632T>C | CA9195452 | KEAP1 | c.1531+16A>G (n.1531+16A>G) c.305-264A>G c.350+16A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489632T= | CA2322454386 | KEAP1 | c.1531+16A= (n.1531+16A=) c.305-264A= c.350+16A= | |
19 | g.10489633A>C | CA2735432814 | KEAP1 | c.1531+15T>G (n.1531+15T>G) c.305-265T>G c.350+15T>G | dbSNP |
19 | g.10489633A>G | CA2735432812 | KEAP1 | c.1531+15T>C (n.1531+15T>C) c.305-265T>C c.350+15T>C | dbSNP |
19 | g.10489633A>T | CA2735432813 | KEAP1 | c.1531+15T>A (n.1531+15T>A) c.305-265T>A c.350+15T>A | dbSNP |
19 | g.10489634C>A | CA2735371862 | KEAP1 | c.1531+14G>T (n.1531+14G>T) c.305-266G>T c.350+14G>T | dbSNP |
19 | g.10489634C= | CA2322454387 | KEAP1 | c.1531+14G= (n.1531+14G=) c.305-266G= c.350+14G= | |
19 | g.10489634C>G | CA2735371863 | KEAP1 | c.1531+14G>C (n.1531+14G>C) c.305-266G>C c.350+14G>C | dbSNP |
19 | g.10489634C>T | CA783182076 | KEAP1 | c.1531+14G>A (n.1531+14G>A) c.305-266G>A c.350+14G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.10489635C>A | CA305199831 | KEAP1 | c.1531+13G>T (n.1531+13G>T) c.305-267G>T c.350+13G>T | dbSNP gnomAD v4 |
19 | g.10489635C= | CA2322454390 | KEAP1 | c.1531+13G= (n.1531+13G=) c.305-267G= c.350+13G= | |
19 | g.10489635C>G | CA2735341985 | KEAP1 | c.1531+13G>C (n.1531+13G>C) c.305-267G>C c.350+13G>C | dbSNP |
19 | g.10489635C>T | CA9195453 | KEAP1 | c.1531+13G>A (n.1531+13G>A) c.305-267G>A c.350+13G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489636G>A | CA632056131 | KEAP1 | c.1531+12C>T (n.1531+12C>T) c.305-268C>T c.350+12C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489636G>C | CA2735372774 | KEAP1 | c.1531+12C>G (n.1531+12C>G) c.305-268C>G c.350+12C>G | dbSNP |
19 | g.10489636G= | CA2322454392 | KEAP1 | c.1531+12C= (n.1531+12C=) c.305-268C= c.350+12C= | |
19 | g.10489638C>G | CA2735432816 | KEAP1 | c.1531+10G>C (n.1531+10G>C) c.305-270G>C c.350+10G>C | dbSNP |
19 | g.10489641del | CA2735432815 | KEAP1 | c.1531+10del (n.1531+10del) c.305-270del c.350+10del | dbSNP |
19 | g.10489639C= | CA2322454393 | KEAP1 | c.1531+9G= (n.1531+9G=) c.305-271G= c.350+9G= | |
19 | g.10489639C>T | CA9195454 | KEAP1 | c.1531+9G>A (n.1531+9G>A) c.305-271G>A c.350+9G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10489645_10489648dup | CA2735432817 | KEAP1 | c.1531+6_1531+9dup c.305-274_305-271dup c.350+6_350+9dup | dbSNP |
19 | g.10489640C>A | CA2582389800 | KEAP1 | c.1531+8G>T (n.1531+8G>T) c.305-272G>T c.350+8G>T | dbSNP gnomAD v4 |
19 | g.10489640C= | CA2322454395 | KEAP1 | c.1531+8G= (n.1531+8G=) c.305-272G= c.350+8G= | |
19 | g.10489640C>G | CA9195455 | KEAP1 | c.1531+8G>C (n.1531+8G>C) c.305-272G>C c.350+8G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489640C>T | CA2582389801 | KEAP1 | c.1531+8G>A (n.1531+8G>A) c.305-272G>A c.350+8G>A | dbSNP gnomAD v4 |
19 | g.10489642A= | CA2322454397 | KEAP1 | c.1531+6T= (n.1531+6T=) c.305-274T= c.350+6T= | |
19 | g.10489642A>C | CA2322454398 | KEAP1 | c.1531+6T>G (n.1531+6T>G) c.305-274T>G c.350+6T>G | dbSNP |
19 | g.10489642A>T | CA2735378535 | KEAP1 | c.1531+6T>A (n.1531+6T>A) c.305-274T>A c.350+6T>A | dbSNP |
19 | g.10489643C>A | CA2735432819 | KEAP1 | c.1531+5G>T (n.1531+5G>T) c.305-275G>T c.350+5G>T | dbSNP |
19 | g.10489643C>G | CA2735432820 | KEAP1 | c.1531+5G>C (n.1531+5G>C) c.305-275G>C c.350+5G>C | dbSNP |
19 | g.10489643C>T | CA2735432818 | KEAP1 | c.1531+5G>A (n.1531+5G>A) c.305-275G>A c.350+5G>A | dbSNP |
19 | g.10489644C>A | CA2322454399 | KEAP1 | c.1531+4G>T (n.1531+4G>T) c.305-276G>T c.350+4G>T | dbSNP |
19 | g.10489644C= | CA2322454400 | KEAP1 | c.1531+4G= (n.1531+4G=) c.305-276G= c.350+4G= | |
19 | g.10489645C>G | CA2735432822 | KEAP1 | c.1531+3G>C (n.1531+3G>C) c.305-277G>C c.350+3G>C | dbSNP |
19 | g.10489645C>T | CA2735432821 | KEAP1 | c.1531+3G>A (n.1531+3G>A) c.305-277G>A c.350+3G>A | dbSNP |
19 | g.10489646A= | CA2322454402 | KEAP1 | c.1531+2T= (n.1531+2T=) c.305-278T= c.350+2T= | |
19 | g.10489646A>C | CA403985319 | KEAP1 | c.1531+2T>G (n.1531+2T>G) c.305-278T>G c.350+2T>G | dbSNP |
19 | g.10489646A>G | CA403985316 | KEAP1 | c.1531+2T>C (n.1531+2T>C) c.305-278T>C c.350+2T>C | |
19 | g.10489646A>T | CA403985322 | KEAP1 | c.1531+2T>A (n.1531+2T>A) c.305-278T>A c.350+2T>A | |
19 | g.10489647C>A | CA403985324 | KEAP1 | c.1531+1G>T (n.1531+1G>T) c.305-279G>T c.350+1G>T | dbSNP |
19 | g.10489647C>G | CA403985325 | KEAP1 | c.1531+1G>C (n.1531+1G>C) c.305-279G>C c.350+1G>C | dbSNP gnomAD v4 |
19 | g.10489647C>T | CA403985326 | KEAP1 | c.1531+1G>A (n.1531+1G>A) c.305-279G>A c.350+1G>A | dbSNP gnomAD v4 |
19 | g.10489648C>A | CA403985327 | KEAP1 | c.1531G>T (p.Gly511Cys) c.305-280G>T c.350G>T | |
19 | g.10489648C>G | CA403985328 | KEAP1 | c.1531G>C (p.Gly511Arg) c.305-280G>C c.350G>C | dbSNP |
19 | g.10489648C>T | CA403985329 | KEAP1 | c.1531G>A (p.Gly511Ser) c.305-280G>A c.350G>A | dbSNP |
19 | g.10489649T>A | CA505383395 | KEAP1 | c.1530A>T (p.Ala510=) c.305-281A>T c.349A>T | dbSNP |
19 | g.10489649T>C | CA505383396 | KEAP1 | c.1530A>G (p.Ala510=) c.305-281A>G c.349A>G | dbSNP |
19 | g.10489649T>G | CA505383397 | KEAP1 | c.1530A>C (p.Ala510=) c.305-281A>C c.349A>C | |
19 | g.10489650G>A | CA403985332 | KEAP1 | c.1529C>T (p.Ala510Val) c.305-282C>T c.348C>T | |
19 | g.10489650G>C | CA403985343 | KEAP1 | c.1529C>G (p.Ala510Gly) c.305-282C>G c.348C>G | |
19 | g.10489650G>T | CA403985345 | KEAP1 | c.1529C>A (p.Ala510Glu) c.305-282C>A c.348C>A | |
19 | g.10489651C>A | CA403985350 | KEAP1 | c.1528G>T (p.Ala510Ser) c.305-283G>T c.347G>T | dbSNP |
19 | g.10489651C= | CA2322454404 | KEAP1 | c.1528G= (p.Ala510=) c.305-283G= c.347G= | |
19 | g.10489651C>G | CA403985352 | KEAP1 | c.1528G>C (p.Ala510Pro) c.305-283G>C c.347G>C | dbSNP |
19 | g.10489651C>T | CA9195456 | KEAP1 | c.1528G>A (p.Ala510Thr) c.305-283G>A c.347G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10489652C>A | CA505383398 | KEAP1 | c.1527G>T (p.Gly509=) c.305-284G>T c.346G>T | COSMIC |
19 | g.10489652C>G | CA505383399 | KEAP1 | c.1527G>C (p.Gly509=) c.305-284G>C c.346G>C | |
19 | g.10489652C>T | CA505383400 | KEAP1 | c.1527G>A (p.Gly509=) c.305-284G>A c.346G>A | |
19 | g.10489653C>A | CA403985375 | KEAP1 | c.1526G>T (p.Gly509Val) c.305-285G>T c.345G>T | dbSNP |
19 | g.10489653C>G | CA403985361 | KEAP1 | c.1526G>C (p.Gly509Ala) c.305-285G>C c.345G>C | dbSNP |
19 | g.10489653C>T | CA403985364 | KEAP1 | c.1526G>A (p.Gly509Glu) c.305-285G>A c.345G>A | dbSNP |
19 | g.10489654C>A | CA403985379 | KEAP1 | c.1525G>T (p.Gly509Trp) c.305-286G>T c.344G>T | dbSNP COSMIC |
19 | g.10489654C= | CA2322454405 | KEAP1 | c.1525G= (p.Gly509=) c.305-286G= c.344G= | |
19 | g.10489654C>G | CA403985386 | KEAP1 | c.1525G>C (p.Gly509Arg) c.305-286G>C c.344G>C | dbSNP |
19 | g.10489654C>T | CA403985389 | KEAP1 | c.1525G>A (p.Gly509Arg) c.305-286G>A c.344G>A | dbSNP gnomAD v4 |
19 | g.10489655G>A | CA9195457 | KEAP1 | c.1524C>T (p.Ser508=) c.305-287C>T c.343C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489655G>C | CA403985393 | KEAP1 | c.1524C>G (p.Ser508Arg) c.305-287C>G c.343C>G | dbSNP |
19 | g.10489655G= | CA2322454407 | KEAP1 | c.1524C= (p.Ser508=) c.305-287C= c.343C= | |
19 | g.10489655G>T | CA403985394 | KEAP1 | c.1524C>A (p.Ser508Arg) c.305-287C>A c.343C>A | dbSNP |
19 | g.10489656C>A | CA403985397 | KEAP1 | c.1523G>T (p.Ser508Ile) c.305-288G>T c.342G>T | dbSNP |
19 | g.10489656C>G | CA403985404 | KEAP1 | c.1523G>C (p.Ser508Thr) c.305-288G>C c.342G>C | dbSNP |
19 | g.10489656C>T | CA403985407 | KEAP1 | c.1523G>A (p.Ser508Asn) c.305-288G>A c.342G>A | dbSNP |
19 | g.10489657T>A | CA403985410 | KEAP1 | c.1522A>T (p.Ser508Cys) c.305-289A>T c.341A>T | dbSNP |
19 | g.10489657T>C | CA403985412 | KEAP1 | c.1522A>G (p.Ser508Gly) c.305-289A>G c.341A>G | dbSNP gnomAD v4 |
19 | g.10489657T>G | CA403985414 | KEAP1 | c.1522A>C (p.Ser508Arg) c.305-289A>C c.341A>C | |
19 | g.10489658T>A | CA505383401 | KEAP1 | c.1521A>T (p.Arg507=) c.305-290A>T c.340A>T | |
19 | g.10489658T>C | CA505383402 | KEAP1 | c.1521A>G (p.Arg507=) c.305-290A>G c.340A>G | |
19 | g.10489658T>G | CA505383403 | KEAP1 | c.1521A>C (p.Arg507=) c.305-290A>C c.340A>C | dbSNP |
19 | g.10489659del | CA645614347 | KEAP1 | c.1520del (p.Arg507GlnfsTer25) c.305-291del c.339del | COSMIC |
19 | g.10489659C>A | CA403985421 | KEAP1 | c.1520G>T (p.Arg507Leu) c.305-291G>T c.339G>T | dbSNP |
19 | g.10489659C= | CA2322454410 | KEAP1 | c.1520G= (p.Arg507=) c.305-291G= c.339G= | |
19 | g.10489659C>G | CA403985419 | KEAP1 | c.1520G>C (p.Arg507Pro) c.305-291G>C c.339G>C | dbSNP |
19 | g.10489659C>T | CA403985416 | KEAP1 | c.1520G>A (p.Arg507Gln) c.305-291G>A c.339G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.10489660G>A | CA9195458 | KEAP1 | c.1519C>T (p.Arg507Ter) c.305-292C>T c.338C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.10489660G>C | CA403985423 | KEAP1 | c.1519C>G (p.Arg507Gly) c.305-292C>G c.338C>G | dbSNP |
19 | g.10489660G= | CA2322454412 | KEAP1 | c.1519C= (p.Arg507=) c.305-292C= c.338C= | |
19 | g.10489660G>T | CA505383404 | KEAP1 | c.1519C>A (p.Arg507=) c.305-292C>A c.338C>A | dbSNP |
19 | g.10489661del | CA645614348 | KEAP1 | c.1519del (p.Arg507GlufsTer25) c.305-292del c.338del | COSMIC |
19 | g.10489661G>A | CA505383405 | KEAP1 | c.1518C>T (p.Ile506=) c.305-293C>T c.337C>T | dbSNP |
19 | g.10489661G>C | CA403985428 | KEAP1 | c.1518C>G (p.Ile506Met) c.305-293C>G c.337C>G | dbSNP |
19 | g.10489661G= | CA2322454415 | KEAP1 | c.1518C= (p.Ile506=) c.305-293C= c.337C= | |
19 | g.10489661G>T | CA505383406 | KEAP1 | c.1518C>A (p.Ile506=) c.305-293C>A c.337C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489662A>C | CA403985431 | KEAP1 | c.1517T>G (p.Ile506Ser) c.305-294T>G c.336T>G | |
19 | g.10489662A>G | CA403985432 | KEAP1 | c.1517T>C (p.Ile506Thr) c.305-294T>C c.336T>C | dbSNP |
19 | g.10489662A>T | CA403985433 | KEAP1 | c.1517T>A (p.Ile506Asn) c.305-294T>A c.336T>A | dbSNP |
19 | g.10489663T>A | CA403985435 | KEAP1 | c.1516A>T (p.Ile506Phe) c.305-295A>T c.335A>T | |
19 | g.10489663T>C | CA403985437 | KEAP1 | c.1516A>G (p.Ile506Val) c.305-295A>G c.335A>G | COSMIC |
19 | g.10489663T>G | CA403985441 | KEAP1 | c.1516A>C (p.Ile506Leu) c.305-295A>C c.335A>C | |
19 | g.10489664G>A | CA505383407 | KEAP1 | c.1515C>T (p.Thr505=) c.305-296C>T c.334C>T | dbSNP |
19 | g.10489664G>C | CA505383408 | KEAP1 | c.1515C>G (p.Thr505=) c.305-296C>G c.334C>G | dbSNP COSMIC |
19 | g.10489664G= | CA2322454416 | KEAP1 | c.1515C= (p.Thr505=) c.305-296C= c.334C= | |
19 | g.10489664G>T | CA505383409 | KEAP1 | c.1515C>A (p.Thr505=) c.305-296C>A c.334C>A | dbSNP gnomAD v4 |
19 | g.10489665G>A | CA403985444 | KEAP1 | c.1514C>T (p.Thr505Ile) c.305-297C>T c.333C>T | dbSNP gnomAD v4 |
19 | g.10489665G>C | CA403985445 | KEAP1 | c.1514C>G (p.Thr505Ser) c.305-297C>G c.333C>G | dbSNP |
19 | g.10489665G>T | CA403985447 | KEAP1 | c.1514C>A (p.Thr505Asn) c.305-297C>A c.333C>A | dbSNP gnomAD v4 |
19 | g.10489666T>A | CA403985452 | KEAP1 | c.1513A>T (p.Thr505Ser) c.305-298A>T c.332A>T | dbSNP |
19 | g.10489666T>C | CA403985453 | KEAP1 | c.1513A>G (p.Thr505Ala) c.305-298A>G c.332A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.10489666T>G | CA403985454 | KEAP1 | c.1513A>C (p.Thr505Pro) c.305-298A>C c.332A>C | |
19 | g.10489666T= | CA2322454418 | KEAP1 | c.1513A= (p.Thr505=) c.305-298A= c.332A= | |
19 | g.10489667G>A | CA505383410 | KEAP1 | c.1512C>T (p.Asn504=) c.305-299C>T c.331C>T | dbSNP gnomAD v4 |
19 | g.10489667G>C | CA403985455 | KEAP1 | c.1512C>G (p.Asn504Lys) c.305-299C>G c.331C>G | dbSNP |
19 | g.10489667G>T | CA403985456 | KEAP1 | c.1512C>A (p.Asn504Lys) c.305-299C>A c.331C>A | |
19 | g.10489668T>A | CA403985457 | KEAP1 | c.1511A>T (p.Asn504Ile) c.305-300A>T c.330A>T | dbSNP |
19 | g.10489668T>C | CA403985458 | KEAP1 | c.1511A>G (p.Asn504Ser) c.305-300A>G c.330A>G | dbSNP |
19 | g.10489668T>G | CA403985459 | KEAP1 | c.1511A>C (p.Asn504Thr) c.305-300A>C c.330A>C | dbSNP |
19 | g.10489669T>A | CA403985460 | KEAP1 | c.1510A>T (p.Asn504Tyr) c.305-301A>T c.329A>T | dbSNP |
19 | g.10489669T>C | CA403985461 | KEAP1 | c.1510A>G (p.Asn504Asp) c.305-301A>G c.329A>G | |
19 | g.10489669T>G | CA403985463 | KEAP1 | c.1510A>C (p.Asn504His) c.305-301A>C c.329A>C | dbSNP |
19 | g.10489670C>A | CA403985466 | KEAP1 | c.1509G>T (p.Met503Ile) c.305-302G>T c.328G>T | dbSNP |
19 | g.10489670C>G | CA403985468 | KEAP1 | c.1509G>C (p.Met503Ile) c.305-302G>C c.328G>C | dbSNP |
19 | g.10489670C>T | CA403985471 | KEAP1 | c.1509G>A (p.Met503Ile) c.305-302G>A c.328G>A | dbSNP |
19 | g.10489671A= | CA2322454420 | KEAP1 | c.1508T= (p.Met503=) c.305-303T= c.327T= | |
19 | g.10489671A>C | CA403985474 | KEAP1 | c.1508T>G (p.Met503Arg) c.305-303T>G c.327T>G | |
19 | g.10489671A>G | CA403985477 | KEAP1 | c.1508T>C (p.Met503Thr) c.305-303T>C c.327T>C | dbSNP gnomAD v4 |
19 | g.10489671A>T | CA403985479 | KEAP1 | c.1508T>A (p.Met503Lys) c.305-303T>A c.327T>A | dbSNP COSMIC |
19 | g.10489672T>A | CA403985485 | KEAP1 | c.1507A>T (p.Met503Leu) c.305-304A>T c.326A>T | dbSNP |
19 | g.10489672T>C | CA9195459 | KEAP1 | c.1507A>G (p.Met503Val) c.305-304A>G c.326A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489672T>G | CA403985483 | KEAP1 | c.1507A>C (p.Met503Leu) c.305-304A>C c.326A>C | dbSNP |
19 | g.10489672T= | CA2322454421 | KEAP1 | c.1507A= (p.Met503=) c.305-304A= c.326A= | |
19 | g.10489673T>A | CA505383411 | KEAP1 | c.1506A>T (p.Ala502=) c.305-305A>T c.325A>T | |
19 | g.10489673T>C | CA505383413 | KEAP1 | c.1506A>G (p.Ala502=) c.305-305A>G c.325A>G | |
19 | g.10489673T>G | CA505383412 | KEAP1 | c.1506A>C (p.Ala502=) c.305-305A>C c.325A>C | |
19 | g.10489674G>A | CA403985492 | KEAP1 | c.1505C>T (p.Ala502Val) c.305-306C>T c.324C>T | dbSNP |
19 | g.10489674G>C | CA403985511 | KEAP1 | c.1505C>G (p.Ala502Gly) c.305-306C>G c.324C>G | dbSNP |
19 | g.10489674G>T | CA403985496 | KEAP1 | c.1505C>A (p.Ala502Glu) c.305-306C>A c.324C>A | dbSNP |
19 | g.10489675C>A | CA403985515 | KEAP1 | c.1504G>T (p.Ala502Ser) c.305-307G>T c.323G>T | dbSNP |
19 | g.10489675C= | CA2322454422 | KEAP1 | c.1504G= (p.Ala502=) c.305-307G= c.323G= | |
19 | g.10489675C>G | CA403985520 | KEAP1 | c.1504G>C (p.Ala502Pro) c.305-307G>C c.323G>C | dbSNP |
19 | g.10489675C>T | CA9195460 | KEAP1 | c.1504G>A (p.Ala502Thr) c.305-307G>A c.323G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10489676T>A | CA505383414 | KEAP1 | c.1503A>T (p.Thr501=) c.305-308A>T c.322A>T | dbSNP |
19 | g.10489676T>C | CA505383415 | KEAP1 | c.1503A>G (p.Thr501=) c.305-308A>G c.322A>G | dbSNP |
19 | g.10489676T>G | CA505383416 | KEAP1 | c.1503A>C (p.Thr501=) c.305-308A>C c.322A>C | dbSNP |
19 | g.10489676T= | CA2322454423 | KEAP1 | c.1503A= (p.Thr501=) c.305-308A= c.322A= | |
19 | g.10489677G>A | CA403985526 | KEAP1 | c.1502C>T (p.Thr501Ile) c.305-309C>T c.321C>T | dbSNP |
19 | g.10489677G>C | CA403985536 | KEAP1 | c.1502C>G (p.Thr501Arg) c.305-309C>G c.321C>G | dbSNP |
19 | g.10489677G>T | CA403985538 | KEAP1 | c.1502C>A (p.Thr501Lys) c.305-309C>A c.321C>A | |
19 | g.10489678T>A | CA403985541 | KEAP1 | c.1501A>T (p.Thr501Ser) c.305-310A>T c.320A>T | dbSNP |
19 | g.10489678T>C | CA403985544 | KEAP1 | c.1501A>G (p.Thr501Ala) c.305-310A>G c.320A>G | dbSNP |
19 | g.10489678T>G | CA403985546 | KEAP1 | c.1501A>C (p.Thr501Pro) c.305-310A>C c.320A>C | |
19 | g.10489679G>A | CA505383417 | KEAP1 | c.1500C>T (p.Ile500=) c.305-311C>T c.319C>T | dbSNP |
19 | g.10489679G>C | CA403985549 | KEAP1 | c.1500C>G (p.Ile500Met) c.305-311C>G c.319C>G | dbSNP |
19 | g.10489679G>T | CA505383418 | KEAP1 | c.1500C>A (p.Ile500=) c.305-311C>A c.319C>A | dbSNP |
19 | g.10489680A>C | CA403985553 | KEAP1 | c.1499T>G (p.Ile500Ser) c.305-312T>G c.318T>G | |
19 | g.10489680A>G | CA403985561 | KEAP1 | c.1499T>C (p.Ile500Thr) c.305-312T>C c.318T>C | dbSNP gnomAD v4 |
19 | g.10489680A>T | CA403985564 | KEAP1 | c.1499T>A (p.Ile500Asn) c.305-312T>A c.318T>A | dbSNP |
19 | g.10489681T>A | CA403985568 | KEAP1 | c.1498A>T (p.Ile500Phe) c.305-313A>T c.317A>T | dbSNP |
19 | g.10489681T>C | CA403985576 | KEAP1 | c.1498A>G (p.Ile500Val) c.305-313A>G c.317A>G | dbSNP |
19 | g.10489681T>G | CA403985574 | KEAP1 | c.1498A>C (p.Ile500Leu) c.305-313A>C c.317A>C | |
19 | g.10489682C>A | CA403985579 | KEAP1 | c.1497G>T (p.Met499Ile) c.305-314G>T c.316G>T | dbSNP |
19 | g.10489682C>G | CA403985582 | KEAP1 | c.1497G>C (p.Met499Ile) c.305-314G>C c.316G>C | dbSNP |
19 | g.10489682C>T | CA403985584 | KEAP1 | c.1497G>A (p.Met499Ile) c.305-314G>A c.316G>A | dbSNP |
19 | g.10489683A>C | CA403985589 | KEAP1 | c.1496T>G (p.Met499Arg) c.305-315T>G c.315T>G | |
19 | g.10489683A>G | CA403985592 | KEAP1 | c.1496T>C (p.Met499Thr) c.305-315T>C c.315T>C | |
19 | g.10489683A>T | CA403985594 | KEAP1 | c.1496T>A (p.Met499Lys) c.305-315T>A c.315T>A | dbSNP |
19 | g.10489684T>A | CA403985599 | KEAP1 | c.1495A>T (p.Met499Leu) c.305-316A>T c.314A>T | |
19 | g.10489684T>C | CA403985608 | KEAP1 | c.1495A>G (p.Met499Val) c.305-316A>G c.314A>G | ClinVar dbSNP gnomAD v4 |
19 | g.10489684T>G | CA403985611 | KEAP1 | c.1495A>C (p.Met499Leu) c.305-316A>C c.314A>C | dbSNP |
19 | g.10489685T>A | CA505383421 | KEAP1 | c.1494A>T (p.Arg498=) c.305-317A>T c.313A>T | dbSNP |
19 | g.10489685T>C | CA505383420 | KEAP1 | c.1494A>G (p.Arg498=) c.305-317A>G c.313A>G | |
19 | g.10489685T>G | CA505383419 | KEAP1 | c.1494A>C (p.Arg498=) c.305-317A>C c.313A>C | |
19 | g.10489686C>A | CA403985617 | KEAP1 | c.1493G>T (p.Arg498Leu) c.305-318G>T c.312G>T | dbSNP |
19 | g.10489686C= | CA2322454424 | KEAP1 | c.1493G= (p.Arg498=) c.305-318G= c.312G= | |
19 | g.10489686C>G | CA403985616 | KEAP1 | c.1493G>C (p.Arg498Pro) c.305-318G>C c.312G>C | dbSNP |
19 | g.10489686C>T | CA403985615 | KEAP1 | c.1493G>A (p.Arg498Gln) c.305-318G>A c.312G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489687G>A | CA403985618 | KEAP1 | c.1492C>T (p.Arg498Ter) c.305-319C>T c.311C>T | dbSNP gnomAD v4 |
19 | g.10489687G>C | CA403985620 | KEAP1 | c.1492C>G (p.Arg498Gly) c.305-319C>G c.311C>G | dbSNP |
19 | g.10489687G>T | CA505383422 | KEAP1 | c.1492C>A (p.Arg498=) c.305-319C>A c.311C>A | dbSNP |
19 | g.10489688C>A | CA403985625 | KEAP1 | c.1491G>T (p.Trp497Cys) c.305-320G>T c.310G>T | dbSNP |
19 | g.10489688C>G | CA403985627 | KEAP1 | c.1491G>C (p.Trp497Cys) c.305-320G>C c.310G>C | dbSNP |
19 | g.10489688C>T | CA403985629 | KEAP1 | c.1491G>A (p.Trp497Ter) c.305-320G>A c.310G>A | dbSNP |
19 | g.10489689C>A | CA403985632 | KEAP1 | c.1490G>T (p.Trp497Leu) c.305-321G>T c.309G>T | COSMIC |
19 | g.10489689C>G | CA403985634 | KEAP1 | c.1490G>C (p.Trp497Ser) c.305-321G>C c.309G>C | dbSNP |
19 | g.10489689C>T | CA403985638 | KEAP1 | c.1490G>A (p.Trp497Ter) c.305-321G>A c.309G>A | dbSNP |
19 | g.10489690A>C | CA403985642 | KEAP1 | c.1489T>G (p.Trp497Gly) c.305-322T>G c.308T>G | dbSNP |
19 | g.10489690A>G | CA403985646 | KEAP1 | c.1489T>C (p.Trp497Arg) c.305-322T>C c.308T>C | dbSNP |
19 | g.10489690A>T | CA403985648 | KEAP1 | c.1489T>A (p.Trp497Arg) c.305-322T>A c.308T>A | dbSNP |
19 | g.10489691C>A | CA403985651 | KEAP1 | c.1488G>T (p.Glu496Asp) c.305-323G>T c.307G>T | |
19 | g.10489691C= | CA2322454425 | KEAP1 | c.1488G= (p.Glu496=) c.305-323G= c.307G= | |
19 | g.10489691C>G | CA403985654 | KEAP1 | c.1488G>C (p.Glu496Asp) c.305-323G>C c.307G>C | dbSNP |
19 | g.10489691C>T | CA505383423 | KEAP1 | c.1488G>A (p.Glu496=) c.305-323G>A c.307G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.10489692T>A | CA403985664 | KEAP1 | c.1487A>T (p.Glu496Val) c.305-324A>T c.306A>T | dbSNP |
19 | g.10489692T>C | CA403985659 | KEAP1 | c.1487A>G (p.Glu496Gly) c.305-324A>G c.306A>G | dbSNP |
19 | g.10489692T>G | CA403985660 | KEAP1 | c.1487A>C (p.Glu496Ala) c.305-324A>C c.306A>C | |
19 | g.10489693C>A | CA403985667 | KEAP1 | c.1486G>T (p.Glu496Ter) c.305-325G>T c.305G>T | dbSNP |
19 | g.10489693C= | CA2322454426 | KEAP1 | c.1486G= (p.Glu496=) c.305-325G= c.305G= | |
19 | g.10489693C>G | CA403985670 | KEAP1 | c.1486G>C (p.Glu496Gln) c.305-325G>C c.305G>C | dbSNP gnomAD v4 |
19 | g.10489693C>T | CA9195461 | KEAP1 | c.1486G>A (p.Glu496Lys) c.305-325G>A c.305G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489694G>A | CA9195462 | KEAP1 | c.1485C>T (p.Asn495=) c.305-326C>T c.304C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489694G>C | CA403985679 | KEAP1 | c.1485C>G (p.Asn495Lys) c.305-326C>G c.304C>G | dbSNP |
19 | g.10489694G= | CA2322454427 | KEAP1 | c.1485C= (p.Asn495=) c.305-326C= c.304C= | |
19 | g.10489694G>T | CA403985682 | KEAP1 | c.1485C>A (p.Asn495Lys) c.305-326C>A c.304C>A | |
19 | g.10489695T>A | CA403985687 | KEAP1 | c.1484A>T (p.Asn495Ile) c.305-327A>T c.303A>T | dbSNP |
19 | g.10489695T>C | CA403985689 | KEAP1 | c.1484A>G (p.Asn495Ser) c.305-327A>G c.303A>G | dbSNP |
19 | g.10489695T>G | CA403985693 | KEAP1 | c.1484A>C (p.Asn495Thr) c.305-327A>C c.303A>C | dbSNP |
19 | g.10489696T>A | CA403985699 | KEAP1 | c.1483A>T (p.Asn495Tyr) c.305-328A>T c.302A>T | |
19 | g.10489696T>C | CA403985701 | KEAP1 | c.1483A>G (p.Asn495Asp) c.305-328A>G c.302A>G | dbSNP gnomAD v2 |
19 | g.10489696T>G | CA403985705 | KEAP1 | c.1483A>C (p.Asn495His) c.305-328A>C c.302A>C | |
19 | g.10489696T= | CA2322454428 | KEAP1 | c.1483A= (p.Asn495=) c.305-328A= c.302A= | |
19 | g.10489697C>A | CA403985712 | KEAP1 | c.1482G>T (p.Arg494Ser) c.305-329G>T c.301G>T | |
19 | g.10489697C>G | CA403985709 | KEAP1 | c.1482G>C (p.Arg494Ser) c.305-329G>C c.301G>C | |
19 | g.10489697C>T | CA505383424 | KEAP1 | c.1482G>A (p.Arg494=) c.305-329G>A c.301G>A | dbSNP |
19 | g.10489698C>A | CA403985716 | KEAP1 | c.1481G>T (p.Arg494Met) c.305-330G>T c.300G>T | dbSNP |
19 | g.10489698C>G | CA403985722 | KEAP1 | c.1481G>C (p.Arg494Thr) c.305-330G>C c.300G>C | dbSNP |
19 | g.10489698C>T | CA403985718 | KEAP1 | c.1481G>A (p.Arg494Lys) c.305-330G>A c.300G>A | dbSNP |
19 | g.10489699T>A | CA403985725 | KEAP1 | c.1480A>T (p.Arg494Trp) c.305-331A>T c.299A>T | |
19 | g.10489699T>C | CA403985728 | KEAP1 | c.1480A>G (p.Arg494Gly) c.305-331A>G c.299A>G | dbSNP |
19 | g.10489699T>G | CA505383425 | KEAP1 | c.1480A>C (p.Arg494=) c.305-331A>C c.299A>C | |
19 | g.10489700C>A | CA403985731 | KEAP1 | c.1479G>T (p.Glu493Asp) c.305-332G>T c.298G>T | dbSNP |
19 | g.10489700C>G | CA403985732 | KEAP1 | c.1479G>C (p.Glu493Asp) c.305-332G>C c.298G>C | dbSNP COSMIC |
19 | g.10489700C>T | CA505383426 | KEAP1 | c.1479G>A (p.Glu493=) c.305-332G>A c.298G>A | dbSNP COSMIC |
19 | g.10489701T>A | CA403985737 | KEAP1 | c.1478A>T (p.Glu493Val) c.305-333A>T c.297A>T | |
19 | g.10489701T>C | CA403985739 | KEAP1 | c.1478A>G (p.Glu493Gly) c.305-333A>G c.297A>G | dbSNP |
19 | g.10489701T>G | CA403985743 | KEAP1 | c.1478A>C (p.Glu493Ala) c.305-333A>C c.297A>C | |
19 | g.10489702C>A | CA403985747 | KEAP1 | c.1477G>T (p.Glu493Ter) c.305-334G>T c.296G>T | dbSNP COSMIC |
19 | g.10489702C>G | CA403985750 | KEAP1 | c.1477G>C (p.Glu493Gln) c.305-334G>C c.296G>C | dbSNP COSMIC |
19 | g.10489702C>T | CA403985755 | KEAP1 | c.1477G>A (p.Glu493Lys) c.305-334G>A c.296G>A | dbSNP |
19 | g.10489703T>A | CA505383427 | KEAP1 | c.1476A>T (p.Pro492=) c.305-335A>T c.295A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.10489703T>C | CA9195463 | KEAP1 | c.1476A>G (p.Pro492=) c.305-335A>G c.295A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489703T>G | CA505383428 | KEAP1 | c.1476A>C (p.Pro492=) c.305-335A>C c.295A>C | |
19 | g.10489703T= | CA2322454429 | KEAP1 | c.1476A= (p.Pro492=) c.305-335A= c.295A= | |
19 | g.10489704G>A | CA403985770 | KEAP1 | c.1475C>T (p.Pro492Leu) c.305-336C>T c.294C>T | dbSNP |
19 | g.10489704G>C | CA403985766 | KEAP1 | c.1475C>G (p.Pro492Arg) c.305-336C>G c.294C>G | dbSNP |
19 | g.10489704G>T | CA403985761 | KEAP1 | c.1475C>A (p.Pro492Gln) c.305-336C>A c.294C>A | dbSNP |
19 | g.10489705G>A | CA403985774 | KEAP1 | c.1474C>T (p.Pro492Ser) c.305-337C>T c.293C>T | dbSNP |
19 | g.10489705G>C | CA403985776 | KEAP1 | c.1474C>G (p.Pro492Ala) c.305-337C>G c.293C>G | dbSNP |
19 | g.10489705G>T | CA403985779 | KEAP1 | c.1474C>A (p.Pro492Thr) c.305-337C>A c.293C>A | dbSNP |
19 | g.10489706G>A | CA505383429 | KEAP1 | c.1473C>T (p.Tyr491=) c.305-338C>T c.292C>T | dbSNP |
19 | g.10489706G>C | CA403985784 | KEAP1 | c.1473C>G (p.Tyr491Ter) c.305-338C>G c.292C>G | dbSNP |
19 | g.10489706G>T | CA403985787 | KEAP1 | c.1473C>A (p.Tyr491Ter) c.305-338C>A c.292C>A |