2 | g.73640851del | CA2577005366 | NAT8 | c.*97del (n.*97del)
| |
2 | g.73640849T>A | CA2659622891 | NAT8 | c.*96A>T (n.*96A>T)
| dbSNP gnomAD v4 |
2 | g.73640850T>C | CA2659622892 | NAT8 | c.*95A>G (n.*95A>G)
| gnomAD v4 |
2 | g.73640850T>G | CA2577005367 | NAT8 | c.*95A>C (n.*95A>C)
| |
2 | g.73640853T>G | CA2659622893 | NAT8 | c.*92A>C (n.*92A>C)
| gnomAD v4 |
2 | g.73640854T>C | CA2750471431 | NAT8 | c.*91A>G (n.*91A>G)
| |
2 | g.73640854T>G | CA2659622894 | NAT8 | c.*91A>C (n.*91A>C)
| gnomAD v4 |
2 | g.73640855G>A | CA2577005368 | NAT8 | c.*90C>T (n.*90C>T)
| gnomAD v4 |
2 | g.73640855G= | CA1261057018 | NAT8 | c.*90C= (n.*90C=)
| |
2 | g.73640855G>T | CA534125736 | NAT8 | c.*90C>A (n.*90C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640856C>A | CA2659622895 | NAT8 | c.*89G>T (n.*89G>T)
| gnomAD v4 |
2 | g.73640856C>G | CA2659622896 | NAT8 | c.*89G>C (n.*89G>C)
| gnomAD v4 |
2 | g.73640856C>T | CA2659622897 | NAT8 | c.*89G>A (n.*89G>A)
| gnomAD v4 |
2 | g.73640858T>C | CA50370759 | NAT8 | c.*87A>G (n.*87A>G)
| gnomAD v4 |
2 | g.73640859T>A | CA50370766 | NAT8 | c.*86A>T (n.*86A>T)
| gnomAD v4 |
2 | g.73640859T>C | CA2659622898 | NAT8 | c.*86A>G (n.*86A>G)
| gnomAD v4 |
2 | g.73640860del | CA2659622899 | NAT8 | c.*85del (n.*85del)
| gnomAD v4 |
2 | g.73640860G>A | CA2577005369 | NAT8 | c.*85C>T (n.*85C>T)
| gnomAD v4 |
2 | g.73640860G>C | CA50370774 | NAT8 | c.*85C>G (n.*85C>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73640860G= | CA1261057019 | NAT8 | c.*85C= (n.*85C=)
| |
2 | g.73640860G>T | CA2659622900 | NAT8 | c.*85C>A (n.*85C>A)
| gnomAD v4 |
2 | g.73640861A>G | CA2659622901 | NAT8 | c.*84T>C (n.*84T>C)
| gnomAD v4 |
2 | g.73640862A= | CA1261057021 | NAT8 | c.*83T= (n.*83T=)
| |
2 | g.73640862A>C | CA1261057020 | NAT8 | c.*83T>G (n.*83T>G)
| dbSNP gnomAD v4 |
2 | g.73640863A>G | CA2659622902 | NAT8 | c.*82T>C (n.*82T>C)
| gnomAD v4 |
2 | g.73640864G>T | CA2659622903 | NAT8 | c.*81C>A (n.*81C>A)
| gnomAD v4 |
2 | g.73640865G>A | CA2600435853 | NAT8 | c.*80C>T (n.*80C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73640865G= | CA1261057022 | NAT8 | c.*80C= (n.*80C=)
| |
2 | g.73640865G>T | CA892866928 | NAT8 | c.*80C>A (n.*80C>A)
| dbSNP gnomAD v4 |
2 | g.73640866T>A | CA2577005370 | NAT8 | c.*79A>T (n.*79A>T)
| gnomAD v4 |
2 | g.73640868A= | CA1261057023 | NAT8 | c.*77T= (n.*77T=)
| |
2 | g.73640868A>G | CA892866929 | NAT8 | c.*77T>C (n.*77T>C)
| dbSNP gnomAD v4 |
2 | g.73640869T>C | CA534125737 | NAT8 | c.*76A>G (n.*76A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640869T= | CA1261057024 | NAT8 | c.*76A= (n.*76A=)
| |
2 | g.73640870del | CA2659622904 | NAT8 | c.*76del (n.*76del)
| gnomAD v4 |
2 | g.73640870T>C | CA892866932 | NAT8 | c.*75A>G (n.*75A>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73640870T>G | CA2659622905 | NAT8 | c.*75A>C (n.*75A>C)
| gnomAD v4 |
2 | g.73640870T= | CA1261057025 | NAT8 | c.*75A= (n.*75A=)
| |
2 | g.73640871G>A | CA2659622906 | NAT8 | c.*74C>T (n.*74C>T)
| gnomAD v4 |
2 | g.73640871G>C | CA2659622907 | NAT8 | c.*74C>G (n.*74C>G)
| gnomAD v4 |
2 | g.73640871G= | CA1261057026 | NAT8 | c.*74C= (n.*74C=)
| |
2 | g.73640871G>T | CA50370783 | NAT8 | c.*74C>A (n.*74C>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73640872C>T | CA2659622908 | NAT8 | c.*73G>A (n.*73G>A)
| gnomAD v4 |
2 | g.73640873A>G | CA2659622909 | NAT8 | c.*72T>C (n.*72T>C)
| gnomAD v4 |
2 | g.73640874G>A | CA2659622910 | NAT8 | c.*71C>T (n.*71C>T)
| gnomAD v4 |
2 | g.73640874G>C | CA2659622911 | NAT8 | c.*71C>G (n.*71C>G)
| gnomAD v4 |
2 | g.73640874G>T | CA2659622912 | NAT8 | c.*71C>A (n.*71C>A)
| gnomAD v4 |
2 | g.73640875T>G | CA50370788 | NAT8 | c.*70A>C (n.*70A>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73640875T= | CA1261057027 | NAT8 | c.*70A= (n.*70A=)
| |
2 | g.73640875dup | CA2659622913 | NAT8 | c.*70dup (n.*70dup)
| gnomAD v4 |
2 | g.73640876G>C | CA50370790 | NAT8 | c.*69C>G (n.*69C>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73640876G= | CA1261057028 | NAT8 | c.*69C= (n.*69C=)
| |
2 | g.73640876G>T | CA2577005371 | NAT8 | c.*69C>A (n.*69C>A)
| gnomAD v4 |
2 | g.73640878A= | CA1261057029 | NAT8 | c.*67T= (n.*67T=)
| |
2 | g.73640878A>G | CA50370791 | NAT8 | c.*67T>C (n.*67T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640879A= | CA1261057030 | NAT8 | c.*66T= (n.*66T=)
| |
2 | g.73640879A>G | CA1032223354 | NAT8 | c.*66T>C (n.*66T>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73640880G>T | CA2577005372 | NAT8 | c.*65C>A (n.*65C>A)
| |
2 | g.73640882_73640887del | CA2600435854 | NAT8 | c.*60_*65del (n.*60_*65del)
| gnomAD v3 gnomAD v4 |
2 | g.73640881G>A | CA2577005373 | NAT8 | c.*64C>T (n.*64C>T)
| |
2 | g.73640881G= | CA1261057032 | NAT8 | c.*64C= (n.*64C=)
| |
2 | g.73640881G>T | CA1032223357 | NAT8 | c.*64C>A (n.*64C>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73640881_73640882delinsGT | CA1261057031 | NAT8 | c.*63_*64delinsAC (n.*63_*64delinsAC)
| |
2 | g.73640882T>A | CA1261057034 | NAT8 | c.*63A>T (n.*63A>T)
| dbSNP |
2 | g.73640882T= | CA1261057033 | NAT8 | c.*63A= (n.*63A=)
| |
2 | g.73640883del | CA892866935 | NAT8 | c.*63del (n.*63del)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73640884G>A | CA1261057036 | NAT8 | c.*61C>T (n.*61C>T)
| dbSNP gnomAD v4 |
2 | g.73640884G= | CA1261057035 | NAT8 | c.*61C= (n.*61C=)
| |
2 | g.73640884G>T | CA892866938 | NAT8 | c.*61C>A (n.*61C>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73640885G>A | CA2740288067 | NAT8 | c.*60C>T (n.*60C>T)
| |
2 | g.73640885G>C | CA2577005374 | NAT8 | c.*60C>G (n.*60C>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73640885G>T | CA2577005375 | NAT8 | c.*60C>A (n.*60C>A)
| gnomAD v4 |
2 | g.73640886G>C | CA1261057038 | NAT8 | c.*59C>G (n.*59C>G)
| dbSNP |
2 | g.73640886G= | CA1261057037 | NAT8 | c.*59C= (n.*59C=)
| |
2 | g.73640886G>T | CA2577005376 | NAT8 | c.*59C>A (n.*59C>A)
| |
2 | g.73640887G>T | CA2659622914 | NAT8 | c.*58C>A (n.*58C>A)
| gnomAD v4 |
2 | g.73640888A>T | CA2577005377 | NAT8 | c.*57T>A (n.*57T>A)
| gnomAD v4 |
2 | g.73640889T>C | CA1261057040 | NAT8 | c.*56A>G (n.*56A>G)
| dbSNP gnomAD v4 |
2 | g.73640889T= | CA1261057039 | NAT8 | c.*56A= (n.*56A=)
| |
2 | g.73640891G>A | CA50370792 | NAT8 | c.*54C>T (n.*54C>T)
| dbSNP gnomAD v4 |
2 | g.73640891G= | CA1261057041 | NAT8 | c.*54C= (n.*54C=)
| |
2 | g.73640892C= | CA1261057042 | NAT8 | c.*53G= (n.*53G=)
| |
2 | g.73640892C>G | CA1032223359 | NAT8 | c.*53G>C (n.*53G>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73640892C>T | CA2659622915 | NAT8 | c.*53G>A (n.*53G>A)
| gnomAD v4 |
2 | g.73640894T>G | CA1261057044 | NAT8 | c.*51A>C (n.*51A>C)
| dbSNP |
2 | g.73640894T= | CA1261057043 | NAT8 | c.*51A= (n.*51A=)
| |
2 | g.73640895G>A | CA2659622916 | NAT8 | c.*50C>T (n.*50C>T)
| gnomAD v4 |
2 | g.73640895G>T | CA2659622917 | NAT8 | c.*50C>A (n.*50C>A)
| gnomAD v4 |
2 | g.73640896C>G | CA2659622918 | NAT8 | c.*49G>C (n.*49G>C)
| gnomAD v4 |
2 | g.73640897T>C | CA1715615 | NAT8 | c.*48A>G (n.*48A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640897T= | CA1261057045 | NAT8 | c.*48A= (n.*48A=)
| |
2 | g.73640898G>A | CA534125738 | NAT8 | c.*47C>T (n.*47C>T)
| dbSNP gnomAD v2 |
2 | g.73640898G>C | CA1261057047 | NAT8 | c.*47C>G (n.*47C>G)
| dbSNP |
2 | g.73640898G= | CA1261057046 | NAT8 | c.*47C= (n.*47C=)
| |
2 | g.73640898G>T | CA2577005378 | NAT8 | c.*47C>A (n.*47C>A)
| gnomAD v4 |
2 | g.73640899C>T | CA2659622919 | NAT8 | c.*46G>A (n.*46G>A)
| gnomAD v4 |
2 | g.73640900T>C | CA1261057049 | NAT8 | c.*45A>G (n.*45A>G)
| dbSNP gnomAD v4 |
2 | g.73640900T= | CA1261057048 | NAT8 | c.*45A= (n.*45A=)
| |
2 | g.73640901A= | CA1261057050 | NAT8 | c.*44T= (n.*44T=)
| |
2 | g.73640901A>C | CA2659622920 | NAT8 | c.*44T>G (n.*44T>G)
| gnomAD v4 |
2 | g.73640901A>G | CA892866944 | NAT8 | c.*44T>C (n.*44T>C)
| dbSNP gnomAD v4 |
2 | g.73640902C>A | CA2659622921 | NAT8 | c.*43G>T (n.*43G>T)
| gnomAD v4 |
2 | g.73640902C>T | CA2577005379 | NAT8 | c.*43G>A (n.*43G>A)
| gnomAD v4 |
2 | g.73640903A>C | CA2659622922 | NAT8 | c.*42T>G (n.*42T>G)
| gnomAD v4 |
2 | g.73640903A>G | CA2659622923 | NAT8 | c.*42T>C (n.*42T>C)
| gnomAD v4 |
2 | g.73640904G>A | CA534125739 | NAT8 | c.*41C>T (n.*41C>T)
| dbSNP gnomAD v2 |
2 | g.73640904G>C | CA2659622924 | NAT8 | c.*41C>G (n.*41C>G)
| gnomAD v4 |
2 | g.73640904G= | CA1261057051 | NAT8 | c.*41C= (n.*41C=)
| |
2 | g.73640904G>T | CA2577005380 | NAT8 | c.*41C>A (n.*41C>A)
| gnomAD v4 |
2 | g.73640905C>A | CA2659622925 | NAT8 | c.*40G>T (n.*40G>T)
| gnomAD v4 |
2 | g.73640906T>C | CA1715616 | NAT8 | c.*39A>G (n.*39A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640906T= | CA1261057052 | NAT8 | c.*39A= (n.*39A=)
| |
2 | g.73640907G>A | CA2659622926 | NAT8 | c.*38C>T (n.*38C>T)
| gnomAD v4 |
2 | g.73640907G>T | CA2659622927 | NAT8 | c.*38C>A (n.*38C>A)
| gnomAD v4 |
2 | g.73640909A= | CA1261057053 | NAT8 | c.*36T= (n.*36T=)
| |
2 | g.73640909A>G | CA1715617 | NAT8 | c.*36T>C (n.*36T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640910T>A | CA2659622928 | NAT8 | c.*35A>T (n.*35A>T)
| gnomAD v4 |
2 | g.73640910T>C | CA2659622929 | NAT8 | c.*35A>G (n.*35A>G)
| gnomAD v4 |
2 | g.73640911G>T | CA2659622930 | NAT8 | c.*34C>A (n.*34C>A)
| gnomAD v4 |
2 | g.73640912G>T | CA2659622931 | NAT8 | c.*33C>A (n.*33C>A)
| gnomAD v4 |
2 | g.73640914T>A | CA892866950 | NAT8 | c.*31A>T (n.*31A>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73640914T>C | CA534125740 | NAT8 | c.*31A>G (n.*31A>G)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.73640914T= | CA1261057054 | NAT8 | c.*31A= (n.*31A=)
| |
2 | g.73640916C>A | CA2659622932 | NAT8 | c.*29G>T (n.*29G>T)
| gnomAD v4 |
2 | g.73640917T>C | CA2659622933 | NAT8 | c.*28A>G (n.*28A>G)
| gnomAD v4 |
2 | g.73640918A= | CA1261057055 | NAT8 | c.*27T= (n.*27T=)
| |
2 | g.73640918A>G | CA50370809 | NAT8 | c.*27T>C (n.*27T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640920T>G | CA1261057057 | NAT8 | c.*25A>C (n.*25A>C)
| dbSNP |
2 | g.73640920T= | CA1261057056 | NAT8 | c.*25A= (n.*25A=)
| |
2 | g.73640923G>A | CA2534979113 | NAT8 | c.*22C>T (n.*22C>T)
| |
2 | g.73640923G>T | CA2659622934 | NAT8 | c.*22C>A (n.*22C>A)
| gnomAD v4 |
2 | g.73640924A>T | CA2659622935 | NAT8 | c.*21T>A (n.*21T>A)
| gnomAD v4 |
2 | g.73640925C= | CA1261057058 | NAT8 | c.*20G= (n.*20G=)
| |
2 | g.73640925C>G | CA1032223366 | NAT8 | c.*20G>C (n.*20G>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73640925C>T | CA892866952 | NAT8 | c.*20G>A (n.*20G>A)
| dbSNP gnomAD v4 |
2 | g.73640926C>A | CA1261057060 | NAT8 | c.*19G>T (n.*19G>T)
| dbSNP gnomAD v4 |
2 | g.73640926C= | CA1261057059 | NAT8 | c.*19G= (n.*19G=)
| |
2 | g.73640926C>T | CA2561506473 | NAT8 | c.*19G>A (n.*19G>A)
| gnomAD v4 |
2 | g.73640927A= | CA1261057061 | NAT8 | c.*18T= (n.*18T=)
| |
2 | g.73640927A>C | CA1261057062 | NAT8 | c.*18T>G (n.*18T>G)
| dbSNP |
2 | g.73640927A>G | CA2659622936 | NAT8 | c.*18T>C (n.*18T>C)
| gnomAD v4 |
2 | g.73640928A= | CA1261057063 | NAT8 | c.*17T= (n.*17T=)
| |
2 | g.73640928A>G | CA534125741 | NAT8 | c.*17T>C (n.*17T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640929T>A | CA534125742 | NAT8 | c.*16A>T (n.*16A>T)
| dbSNP gnomAD v2 |
2 | g.73640929T>C | CA2659622937 | NAT8 | c.*16A>G (n.*16A>G)
| gnomAD v4 |
2 | g.73640929T= | CA1261057064 | NAT8 | c.*16A= (n.*16A=)
| |
2 | g.73640933_73640936del | CA2659622938 | NAT8 | c.*12_*15del (n.*12_*15del)
| gnomAD v4 |
2 | g.73640931C>T | CA2577005381 | NAT8 | c.*14G>A (n.*14G>A)
| |
2 | g.73640932A>G | CA2659622939 | NAT8 | c.*13T>C (n.*13T>C)
| gnomAD v4 |
2 | g.73640933C= | CA1261057065 | NAT8 | c.*12G= (n.*12G=)
| |
2 | g.73640933C>G | CA1715618 | NAT8 | c.*12G>C (n.*12G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640933C>T | CA1261057066 | NAT8 | c.*12G>A (n.*12G>A)
| dbSNP |
2 | g.73640934A>G | CA2659622940 | NAT8 | c.*11T>C (n.*11T>C)
| gnomAD v4 |
2 | g.73640935C>A | CA1715620 | NAT8 | c.*10G>T (n.*10G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640935C= | CA1261057067 | NAT8 | c.*10G= (n.*10G=)
| |
2 | g.73640935C>G | CA1715619 | NAT8 | c.*10G>C (n.*10G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640936A= | CA1261057068 | NAT8 | c.*9T= (n.*9T=)
| |
2 | g.73640936A>C | CA2659622942 | NAT8 | c.*9T>G (n.*9T>G)
| gnomAD v4 |
2 | g.73640936A>G | CA1715621 | NAT8 | c.*9T>C (n.*9T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640936A>T | CA534125743 | NAT8 | c.*9T>A (n.*9T>A)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.73640937_73640938del | CA2659622941 | NAT8 | c.*8_*9del (n.*8_*9del)
| gnomAD v4 |
2 | g.73640937G>A | CA1261057069 | NAT8 | c.*8C>T (n.*8C>T)
| dbSNP |
2 | g.73640937G= | CA1261057070 | NAT8 | c.*8C= (n.*8C=)
| |
2 | g.73640939_73640941delinsAAG | CA1261057071 | NAT8 | c.*4_*6delinsCTT (n.*4_*6delinsCTT)
| |
2 | g.73640940A= | CA1261057072 | NAT8 | c.*5T= (n.*5T=)
| |
2 | g.73640940A>G | CA534125744 | NAT8 | c.*5T>C (n.*5T>C)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.73640943_73640944del | CA1715622 | NAT8 | c.*4_*5del (n.*4_*5del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640941G>A | CA2577005382 | NAT8 | c.*4C>T (n.*4C>T)
| gnomAD v4 |
2 | g.73640941G= | CA1261057073 | NAT8 | c.*4C= (n.*4C=)
| |
2 | g.73640941G>T | CA892866964 | NAT8 | c.*4C>A (n.*4C>A)
| dbSNP |
2 | g.73640942A= | CA1261057074 | NAT8 | c.*3T= (n.*3T=)
| |
2 | g.73640942A>T | CA50370820 | NAT8 | c.*3T>A (n.*3T>A)
| dbSNP |
2 | g.73640943G>A | CA1715624 | NAT8 | c.*2C>T (n.*2C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640943G= | CA1261057075 | NAT8 | c.*2C= (n.*2C=)
| |
2 | g.73640943G>T | CA1715623 | NAT8 | c.*2C>A (n.*2C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640944A= | CA1261057076 | NAT8 | c.*1T= (n.*1T=)
| |
2 | g.73640944A>C | CA1715625 | NAT8 | c.*1T>G (n.*1T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640945T>A | CA347285955 | NAT8 | c.684A>T (p.Ter228Cys)
| |
2 | g.73640945T>C | CA347285956 | NAT8 | c.684A>G (p.Ter228Trp)
| gnomAD v4 |
2 | g.73640945T>G | CA347285958 | NAT8 | c.684A>C (p.Ter228Cys)
| |
2 | g.73640945dup | CA534125745 | NAT8 | c.684dup (n.684dup)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.73640946C>A | CA347285961 | NAT8 | c.683G>T (p.Ter228Leu)
| gnomAD v4 |
2 | g.73640946C= | CA1261057077 | NAT8 | c.683G= (p.Ter228=)
| |
2 | g.73640946C>G | CA347285962 | NAT8 | c.683G>C (p.Ter228Ser)
| |
2 | g.73640946C>T | CA1715626 | NAT8 | c.683G>A (p.Ter228=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640948_73640949del | CA2577005383 | NAT8 | c.682_683del (p.Ter228IleextTer10)
| gnomAD v4 |
2 | g.73640947A= | CA1261057078 | NAT8 | c.682T= (p.Ter228=)
| |
2 | g.73640947A>C | CA347285965 | NAT8 | c.682T>G (p.Ter228Gly)
| |
2 | g.73640947A>G | CA1715627 | NAT8 | c.682T>C (p.Ter228Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640947A>T | CA347285967 | NAT8 | c.682T>A (p.Ter228Arg)
| |
2 | g.73640948C>A | CA427024242 | NAT8 | c.681G>T (p.Leu227=)
| |
2 | g.73640948C= | CA1261057079 | NAT8 | c.681G= (p.Leu227=)
| |
2 | g.73640948C>G | CA1715629 | NAT8 | c.681G>C (p.Leu227=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640948C>T | CA1715628 | NAT8 | c.681G>A (p.Leu227=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640949A= | CA1261057080 | NAT8 | c.680T= (p.Leu227=)
| |
2 | g.73640949A>C | CA347285972 | NAT8 | c.680T>G (p.Leu227Arg)
| |
2 | g.73640949A>G | CA347285973 | NAT8 | c.680T>C (p.Leu227Pro)
| |
2 | g.73640949A>T | CA50370850 | NAT8 | c.680T>A (p.Leu227Gln)
| dbSNP |