Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31816717C>A | CA363413683 | HSPA1A,HSPA1L | c.961C>A (p.Leu321Met) c.466C>A (p.Leu156Met) c.-14+4296G>T (n.-14+4296G>T) | |
6 | g.31816717C>G | CA363413690 | HSPA1A,HSPA1L | c.961C>G (p.Leu321Val) c.466C>G (p.Leu156Val) c.-14+4296G>C (n.-14+4296G>C) | |
6 | g.31816717C>T | CA449805792 | HSPA1A,HSPA1L | c.961C>T (p.Leu321=) c.466C>T (p.Leu156=) c.-14+4296G>A (n.-14+4296G>A) | |
6 | g.31816718T>A | CA363413694 | HSPA1A,HSPA1L | c.962T>A (p.Leu321Gln) c.467T>A (p.Leu156Gln) c.-14+4295A>T (n.-14+4295A>T) | |
6 | g.31816718T>C | CA363413698 | HSPA1A,HSPA1L | c.962T>C (p.Leu321Pro) c.467T>C (p.Leu156Pro) c.-14+4295A>G (n.-14+4295A>G) | |
6 | g.31816718T>G | CA363413701 | HSPA1A,HSPA1L | c.962T>G (p.Leu321Arg) c.467T>G (p.Leu156Arg) c.-14+4295A>C (n.-14+4295A>C) | |
6 | g.31816719G>A | CA449805795 | HSPA1A,HSPA1L | c.963G>A (p.Leu321=) c.468G>A (p.Leu156=) c.-14+4294C>T (n.-14+4294C>T) | |
6 | g.31816719G>C | CA449805794 | HSPA1A,HSPA1L | c.963G>C (p.Leu321=) c.468G>C (p.Leu156=) c.-14+4294C>G (n.-14+4294C>G) | |
6 | g.31816719G>T | CA449805793 | HSPA1A,HSPA1L | c.963G>T (p.Leu321=) c.468G>T (p.Leu156=) c.-14+4294C>A (n.-14+4294C>A) | |
6 | g.31816720C>A | CA363413717 | HSPA1A,HSPA1L | c.964C>A (p.Arg322Ser) c.469C>A (p.Arg157Ser) c.-14+4293G>T (n.-14+4293G>T) | |
6 | g.31816720C= | CA1619307531 | HSPA1A,HSPA1L | c.964C= (p.Arg322=) c.469C= (p.Arg157=) c.-14+4293G= (n.-14+4293G=) | |
6 | g.31816720C>G | CA363413716 | HSPA1A,HSPA1L | c.964C>G (p.Arg322Gly) c.469C>G (p.Arg157Gly) c.-14+4293G>C (n.-14+4293G>C) | |
6 | g.31816720C>T | CA363413709 | HSPA1A,HSPA1L | c.964C>T (p.Arg322Cys) c.469C>T (p.Arg157Cys) c.-14+4293G>A (n.-14+4293G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816721G>A | CA363413718 | HSPA1A,HSPA1L | c.965G>A (p.Arg322His) c.470G>A (p.Arg157His) c.-14+4292C>T (n.-14+4292C>T) | |
6 | g.31816721G>C | CA363413719 | HSPA1A,HSPA1L | c.965G>C (p.Arg322Pro) c.470G>C (p.Arg157Pro) c.-14+4292C>G (n.-14+4292C>G) | |
6 | g.31816721G>T | CA363413723 | HSPA1A,HSPA1L | c.965G>T (p.Arg322Leu) c.470G>T (p.Arg157Leu) c.-14+4292C>A (n.-14+4292C>A) | |
6 | g.31816722C>A | CA449805800 | HSPA1A,HSPA1L | c.966C>A (p.Arg322=) c.471C>A (p.Arg157=) c.-14+4291G>T (n.-14+4291G>T) | |
6 | g.31816722C>G | CA449805802 | HSPA1A,HSPA1L | c.966C>G (p.Arg322=) c.471C>G (p.Arg157=) c.-14+4291G>C (n.-14+4291G>C) | |
6 | g.31816722C>T | CA449805801 | HSPA1A,HSPA1L | c.966C>T (p.Arg322=) c.471C>T (p.Arg157=) c.-14+4291G>A (n.-14+4291G>A) | |
6 | g.31816723G>A | CA363413728 | HSPA1A,HSPA1L | c.967G>A (p.Asp323Asn) c.472G>A (p.Asp158Asn) c.-14+4290C>T (n.-14+4290C>T) | |
6 | g.31816723G>C | CA363413731 | HSPA1A,HSPA1L | c.967G>C (p.Asp323His) c.472G>C (p.Asp158His) c.-14+4290C>G (n.-14+4290C>G) | |
6 | g.31816723G>T | CA363413734 | HSPA1A,HSPA1L | c.967G>T (p.Asp323Tyr) c.472G>T (p.Asp158Tyr) c.-14+4290C>A (n.-14+4290C>A) | |
6 | g.31816724A>C | CA363413740 | HSPA1A,HSPA1L | c.968A>C (p.Asp323Ala) c.473A>C (p.Asp158Ala) c.-14+4289T>G (n.-14+4289T>G) | |
6 | g.31816724A>G | CA363413745 | HSPA1A,HSPA1L | c.968A>G (p.Asp323Gly) c.473A>G (p.Asp158Gly) c.-14+4289T>C (n.-14+4289T>C) | |
6 | g.31816724A>T | CA363413746 | HSPA1A,HSPA1L | c.968A>T (p.Asp323Val) c.473A>T (p.Asp158Val) c.-14+4289T>A (n.-14+4289T>A) | |
6 | g.31816725C>A | CA363413751 | HSPA1A,HSPA1L | c.969C>A (p.Asp323Glu) c.474C>A (p.Asp158Glu) c.-14+4288G>T (n.-14+4288G>T) | |
6 | g.31816725C>G | CA363413765 | HSPA1A,HSPA1L | c.969C>G (p.Asp323Glu) c.474C>G (p.Asp158Glu) c.-14+4288G>C (n.-14+4288G>C) | |
6 | g.31816725C>T | CA449805809 | HSPA1A,HSPA1L | c.969C>T (p.Asp323=) c.474C>T (p.Asp158=) c.-14+4288G>A (n.-14+4288G>A) | |
6 | g.31816726G>A | CA363413770 | HSPA1A,HSPA1L | c.970G>A (p.Ala324Thr) c.475G>A (p.Ala159Thr) c.-14+4287C>T (n.-14+4287C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816726G>C | CA363413771 | HSPA1A,HSPA1L | c.970G>C (p.Ala324Pro) c.475G>C (p.Ala159Pro) c.-14+4287C>G (n.-14+4287C>G) | |
6 | g.31816726G= | CA1619307532 | HSPA1A,HSPA1L | c.970G= (p.Ala324=) c.475G= (p.Ala159=) c.-14+4287C= (n.-14+4287C=) | |
6 | g.31816726G>T | CA363413772 | HSPA1A,HSPA1L | c.970G>T (p.Ala324Ser) c.475G>T (p.Ala159Ser) c.-14+4287C>A (n.-14+4287C>A) | |
6 | g.31816727C>A | CA363413778 | HSPA1A,HSPA1L | c.971C>A (p.Ala324Asp) c.476C>A (p.Ala159Asp) c.-14+4286G>T (n.-14+4286G>T) | |
6 | g.31816727C>G | CA363413782 | HSPA1A,HSPA1L | c.971C>G (p.Ala324Gly) c.476C>G (p.Ala159Gly) c.-14+4286G>C (n.-14+4286G>C) | |
6 | g.31816727C>T | CA363413774 | HSPA1A,HSPA1L | c.971C>T (p.Ala324Val) c.476C>T (p.Ala159Val) c.-14+4286G>A (n.-14+4286G>A) | |
6 | g.31816728C>A | CA449805812 | HSPA1A,HSPA1L | c.972C>A (p.Ala324=) c.477C>A (p.Ala159=) c.-14+4285G>T (n.-14+4285G>T) | |
6 | g.31816728C>G | CA449805813 | HSPA1A,HSPA1L | c.972C>G (p.Ala324=) c.477C>G (p.Ala159=) c.-14+4285G>C (n.-14+4285G>C) | |
6 | g.31816728C>T | CA449805814 | HSPA1A,HSPA1L | c.972C>T (p.Ala324=) c.477C>T (p.Ala159=) c.-14+4285G>A (n.-14+4285G>A) | |
6 | g.31816729A>C | CA363413784 | HSPA1A,HSPA1L | c.973A>C (p.Lys325Gln) c.478A>C (p.Lys160Gln) c.-14+4284T>G (n.-14+4284T>G) | gnomAD v4 |
6 | g.31816729A>G | CA363413786 | HSPA1A,HSPA1L | c.973A>G (p.Lys325Glu) c.478A>G (p.Lys160Glu) c.-14+4284T>C (n.-14+4284T>C) | |
6 | g.31816729A>T | CA363413798 | HSPA1A,HSPA1L | c.973A>T (p.Lys325Ter) c.478A>T (p.Lys160Ter) c.-14+4284T>A (n.-14+4284T>A) | |
6 | g.31816730A>C | CA363413800 | HSPA1A,HSPA1L | c.974A>C (p.Lys325Thr) c.479A>C (p.Lys160Thr) c.-14+4283T>G (n.-14+4283T>G) | |
6 | g.31816730A>G | CA363413804 | HSPA1A,HSPA1L | c.974A>G (p.Lys325Arg) c.479A>G (p.Lys160Arg) c.-14+4283T>C (n.-14+4283T>C) | |
6 | g.31816730A>T | CA363413820 | HSPA1A,HSPA1L | c.974A>T (p.Lys325Met) c.479A>T (p.Lys160Met) c.-14+4283T>A (n.-14+4283T>A) | |
6 | g.31816731del | CA2844078117 | HSPA1A,HSPA1L | c.975del (p.Lys325AsnfsTer?) c.480del (p.Lys160AsnfsTer?) c.-14+4282del (n.-14+4282del) | |
6 | g.31816731G>A | CA449805819 | HSPA1A,HSPA1L | c.975G>A (p.Lys325=) c.480G>A (p.Lys160=) c.-14+4282C>T (n.-14+4282C>T) | |
6 | g.31816731G>C | CA363413827 | HSPA1A,HSPA1L | c.975G>C (p.Lys325Asn) c.480G>C (p.Lys160Asn) c.-14+4282C>G (n.-14+4282C>G) | |
6 | g.31816731G>T | CA363413830 | HSPA1A,HSPA1L | c.975G>T (p.Lys325Asn) c.480G>T (p.Lys160Asn) c.-14+4282C>A (n.-14+4282C>A) | |
6 | g.31816732C>A | CA363413834 | HSPA1A,HSPA1L | c.976C>A (p.Leu326Met) c.481C>A (p.Leu161Met) c.-14+4281G>T (n.-14+4281G>T) | |
6 | g.31816732C>G | CA363413839 | HSPA1A,HSPA1L | c.976C>G (p.Leu326Val) c.481C>G (p.Leu161Val) c.-14+4281G>C (n.-14+4281G>C) | |
6 | g.31816732C>T | CA449805820 | HSPA1A,HSPA1L | c.976C>T (p.Leu326=) c.481C>T (p.Leu161=) c.-14+4281G>A (n.-14+4281G>A) | |
6 | g.31816733T>A | CA363413844 | HSPA1A,HSPA1L | c.977T>A (p.Leu326Gln) c.482T>A (p.Leu161Gln) c.-14+4280A>T (n.-14+4280A>T) | |
6 | g.31816733T>C | CA363413846 | HSPA1A,HSPA1L | c.977T>C (p.Leu326Pro) c.482T>C (p.Leu161Pro) c.-14+4280A>G (n.-14+4280A>G) | |
6 | g.31816733T>G | CA363413848 | HSPA1A,HSPA1L | c.977T>G (p.Leu326Arg) c.482T>G (p.Leu161Arg) c.-14+4280A>C (n.-14+4280A>C) | |
6 | g.31816734G>A | CA449805825 | HSPA1A,HSPA1L | c.978G>A (p.Leu326=) c.483G>A (p.Leu161=) c.-14+4279C>T (n.-14+4279C>T) | |
6 | g.31816734G>C | CA449805826 | HSPA1A,HSPA1L | c.978G>C (p.Leu326=) c.483G>C (p.Leu161=) c.-14+4279C>G (n.-14+4279C>G) | |
6 | g.31816734G>T | CA449805827 | HSPA1A,HSPA1L | c.978G>T (p.Leu326=) c.483G>T (p.Leu161=) c.-14+4279C>A (n.-14+4279C>A) | |
6 | g.31816735G>A | CA363413851 | HSPA1A,HSPA1L | c.979G>A (p.Asp327Asn) c.484G>A (p.Asp162Asn) c.-14+4278C>T (n.-14+4278C>T) | |
6 | g.31816735G>C | CA363413858 | HSPA1A,HSPA1L | c.979G>C (p.Asp327His) c.484G>C (p.Asp162His) c.-14+4278C>G (n.-14+4278C>G) | |
6 | g.31816735G>T | CA363413853 | HSPA1A,HSPA1L | c.979G>T (p.Asp327Tyr) c.484G>T (p.Asp162Tyr) c.-14+4278C>A (n.-14+4278C>A) | |
6 | g.31816736A>C | CA363413862 | HSPA1A,HSPA1L | c.980A>C (p.Asp327Ala) c.485A>C (p.Asp162Ala) c.-14+4277T>G (n.-14+4277T>G) | |
6 | g.31816736A>G | CA363413866 | HSPA1A,HSPA1L | c.980A>G (p.Asp327Gly) c.485A>G (p.Asp162Gly) c.-14+4277T>C (n.-14+4277T>C) | |
6 | g.31816736A>T | CA363413885 | HSPA1A,HSPA1L | c.980A>T (p.Asp327Val) c.485A>T (p.Asp162Val) c.-14+4277T>A (n.-14+4277T>A) | |
6 | g.31816737C>A | CA363413898 | HSPA1A,HSPA1L | c.981C>A (p.Asp327Glu) c.486C>A (p.Asp162Glu) c.-14+4276G>T (n.-14+4276G>T) | |
6 | g.31816737C>G | CA363413907 | HSPA1A,HSPA1L | c.981C>G (p.Asp327Glu) c.486C>G (p.Asp162Glu) c.-14+4276G>C (n.-14+4276G>C) | |
6 | g.31816737C>T | CA449805832 | HSPA1A,HSPA1L | c.981C>T (p.Asp327=) c.486C>T (p.Asp162=) c.-14+4276G>A (n.-14+4276G>A) | |
6 | g.31816738A>C | CA363413912 | HSPA1A,HSPA1L | c.982A>C (p.Lys328Gln) c.487A>C (p.Lys163Gln) c.-14+4275T>G (n.-14+4275T>G) | gnomAD v4 |
6 | g.31816738A>G | CA363413913 | HSPA1A,HSPA1L | c.982A>G (p.Lys328Glu) c.487A>G (p.Lys163Glu) c.-14+4275T>C (n.-14+4275T>C) | |
6 | g.31816738A>T | CA363413915 | HSPA1A,HSPA1L | c.982A>T (p.Lys328Ter) c.487A>T (p.Lys163Ter) c.-14+4275T>A (n.-14+4275T>A) | |
6 | g.31816739A>C | CA363413921 | HSPA1A,HSPA1L | c.983A>C (p.Lys328Thr) c.488A>C (p.Lys163Thr) c.-14+4274T>G (n.-14+4274T>G) | |
6 | g.31816739A>G | CA363413923 | HSPA1A,HSPA1L | c.983A>G (p.Lys328Arg) c.488A>G (p.Lys163Arg) c.-14+4274T>C (n.-14+4274T>C) | |
6 | g.31816739A>T | CA363413926 | HSPA1A,HSPA1L | c.983A>T (p.Lys328Met) c.488A>T (p.Lys163Met) c.-14+4274T>A (n.-14+4274T>A) | |
6 | g.31816740G>A | CA449805839 | HSPA1A,HSPA1L | c.984G>A (p.Lys328=) c.489G>A (p.Lys163=) c.-14+4273C>T (n.-14+4273C>T) | |
6 | g.31816740G>C | CA363413932 | HSPA1A,HSPA1L | c.984G>C (p.Lys328Asn) c.489G>C (p.Lys163Asn) c.-14+4273C>G (n.-14+4273C>G) | |
6 | g.31816740G>T | CA363413933 | HSPA1A,HSPA1L | c.984G>T (p.Lys328Asn) c.489G>T (p.Lys163Asn) c.-14+4273C>A (n.-14+4273C>A) | |
6 | g.31816741G>A | CA363413934 | HSPA1A,HSPA1L | c.985G>A (p.Ala329Thr) c.490G>A (p.Ala164Thr) c.-14+4272C>T (n.-14+4272C>T) | |
6 | g.31816741G>C | CA363413939 | HSPA1A,HSPA1L | c.985G>C (p.Ala329Pro) c.490G>C (p.Ala164Pro) c.-14+4272C>G (n.-14+4272C>G) | |
6 | g.31816741G>T | CA363413937 | HSPA1A,HSPA1L | c.985G>T (p.Ala329Ser) c.490G>T (p.Ala164Ser) c.-14+4272C>A (n.-14+4272C>A) | gnomAD v4 |
6 | g.31816742C>A | CA363413941 | HSPA1A,HSPA1L | c.986C>A (p.Ala329Asp) c.491C>A (p.Ala164Asp) c.-14+4271G>T (n.-14+4271G>T) | |
6 | g.31816742C>G | CA363413944 | HSPA1A,HSPA1L | c.986C>G (p.Ala329Gly) c.491C>G (p.Ala164Gly) c.-14+4271G>C (n.-14+4271G>C) | |
6 | g.31816742C>T | CA363413946 | HSPA1A,HSPA1L | c.986C>T (p.Ala329Val) c.491C>T (p.Ala164Val) c.-14+4271G>A (n.-14+4271G>A) | |
6 | g.31816743C>A | CA449805841 | HSPA1A,HSPA1L | c.987C>A (p.Ala329=) c.492C>A (p.Ala164=) c.-14+4270G>T (n.-14+4270G>T) | gnomAD v4 |
6 | g.31816743C>G | CA449805844 | HSPA1A,HSPA1L | c.987C>G (p.Ala329=) c.492C>G (p.Ala164=) c.-14+4270G>C (n.-14+4270G>C) | |
6 | g.31816743C>T | CA449805843 | HSPA1A,HSPA1L | c.987C>T (p.Ala329=) c.492C>T (p.Ala164=) c.-14+4270G>A (n.-14+4270G>A) | |
6 | g.31816744C>A | CA363413950 | HSPA1A,HSPA1L | c.988C>A (p.Gln330Lys) c.493C>A (p.Gln165Lys) c.-14+4269G>T (n.-14+4269G>T) | |
6 | g.31816744C>G | CA363413952 | HSPA1A,HSPA1L | c.988C>G (p.Gln330Glu) c.493C>G (p.Gln165Glu) c.-14+4269G>C (n.-14+4269G>C) | |
6 | g.31816744C>T | CA363413955 | HSPA1A,HSPA1L | c.988C>T (p.Gln330Ter) c.493C>T (p.Gln165Ter) c.-14+4269G>A (n.-14+4269G>A) | |
6 | g.31816745A>C | CA363413968 | HSPA1A,HSPA1L | c.989A>C (p.Gln330Pro) c.494A>C (p.Gln165Pro) c.-14+4268T>G (n.-14+4268T>G) | |
6 | g.31816745A>G | CA363413962 | HSPA1A,HSPA1L | c.989A>G (p.Gln330Arg) c.494A>G (p.Gln165Arg) c.-14+4268T>C (n.-14+4268T>C) | gnomAD v4 |
6 | g.31816745A>T | CA363413965 | HSPA1A,HSPA1L | c.989A>T (p.Gln330Leu) c.494A>T (p.Gln165Leu) c.-14+4268T>A (n.-14+4268T>A) | |
6 | g.31816746G>A | CA449805850 | HSPA1A,HSPA1L | c.990G>A (p.Gln330=) c.495G>A (p.Gln165=) c.-14+4267C>T (n.-14+4267C>T) | |
6 | g.31816746G>C | CA363413973 | HSPA1A,HSPA1L | c.990G>C (p.Gln330His) c.495G>C (p.Gln165His) c.-14+4267C>G (n.-14+4267C>G) | |
6 | g.31816746G>T | CA363413975 | HSPA1A,HSPA1L | c.990G>T (p.Gln330His) c.495G>T (p.Gln165His) c.-14+4267C>A (n.-14+4267C>A) | |
6 | g.31816747A>C | CA363413979 | HSPA1A,HSPA1L | c.991A>C (p.Ile331Leu) c.496A>C (p.Ile166Leu) c.-14+4266T>G (n.-14+4266T>G) | |
6 | g.31816747A>G | CA363413980 | HSPA1A,HSPA1L | c.991A>G (p.Ile331Val) c.496A>G (p.Ile166Val) c.-14+4266T>C (n.-14+4266T>C) | |
6 | g.31816747A>T | CA363413981 | HSPA1A,HSPA1L | c.991A>T (p.Ile331Phe) c.496A>T (p.Ile166Phe) c.-14+4266T>A (n.-14+4266T>A) | |
6 | g.31816748T>A | CA363413995 | HSPA1A,HSPA1L | c.992T>A (p.Ile331Asn) c.497T>A (p.Ile166Asn) c.-14+4265A>T (n.-14+4265A>T) | |
6 | g.31816748T>C | CA363413992 | HSPA1A,HSPA1L | c.992T>C (p.Ile331Thr) c.497T>C (p.Ile166Thr) c.-14+4265A>G (n.-14+4265A>G) | |
6 | g.31816748T>G | CA363413994 | HSPA1A,HSPA1L | c.992T>G (p.Ile331Ser) c.497T>G (p.Ile166Ser) c.-14+4265A>C (n.-14+4265A>C) | gnomAD v4 |
6 | g.31816749T>A | CA449805854 | HSPA1A,HSPA1L | c.993T>A (p.Ile331=) c.498T>A (p.Ile166=) c.-14+4264A>T (n.-14+4264A>T) | |
6 | g.31816749T>C | CA449805856 | HSPA1A,HSPA1L | c.993T>C (p.Ile331=) c.498T>C (p.Ile166=) c.-14+4264A>G (n.-14+4264A>G) | |
6 | g.31816749T>G | CA363413998 | HSPA1A,HSPA1L | c.993T>G (p.Ile331Met) c.498T>G (p.Ile166Met) c.-14+4264A>C (n.-14+4264A>C) | |
6 | g.31816750C>A | CA363414004 | HSPA1A,HSPA1L | c.994C>A (p.His332Asn) c.499C>A (p.His167Asn) c.-14+4263G>T (n.-14+4263G>T) | |
6 | g.31816750C>G | CA363414007 | HSPA1A,HSPA1L | c.994C>G (p.His332Asp) c.499C>G (p.His167Asp) c.-14+4263G>C (n.-14+4263G>C) | gnomAD v4 |
6 | g.31816750C>T | CA363414009 | HSPA1A,HSPA1L | c.994C>T (p.His332Tyr) c.499C>T (p.His167Tyr) c.-14+4263G>A (n.-14+4263G>A) | |
6 | g.31816751A>C | CA363414012 | HSPA1A,HSPA1L | c.995A>C (p.His332Pro) c.500A>C (p.His167Pro) c.-14+4262T>G (n.-14+4262T>G) | gnomAD v4 |
6 | g.31816751A>G | CA363414013 | HSPA1A,HSPA1L | c.995A>G (p.His332Arg) c.500A>G (p.His167Arg) c.-14+4262T>C (n.-14+4262T>C) | |
6 | g.31816751A>T | CA363414014 | HSPA1A,HSPA1L | c.995A>T (p.His332Leu) c.500A>T (p.His167Leu) c.-14+4262T>A (n.-14+4262T>A) | gnomAD v4 |
6 | g.31816752C>A | CA363414019 | HSPA1A,HSPA1L | c.996C>A (p.His332Gln) c.501C>A (p.His167Gln) c.-14+4261G>T (n.-14+4261G>T) | |
6 | g.31816752C>G | CA363414023 | HSPA1A,HSPA1L | c.996C>G (p.His332Gln) c.501C>G (p.His167Gln) c.-14+4261G>C (n.-14+4261G>C) | |
6 | g.31816752C>T | CA449805862 | HSPA1A,HSPA1L | c.996C>T (p.His332=) c.501C>T (p.His167=) c.-14+4261G>A (n.-14+4261G>A) | |
6 | g.31816753G>A | CA363414029 | HSPA1A,HSPA1L | c.997G>A (p.Asp333Asn) c.502G>A (p.Asp168Asn) c.-14+4260C>T (n.-14+4260C>T) | |
6 | g.31816753G>C | CA363414030 | HSPA1A,HSPA1L | c.997G>C (p.Asp333His) c.502G>C (p.Asp168His) c.-14+4260C>G (n.-14+4260C>G) | |
6 | g.31816753G>T | CA363414031 | HSPA1A,HSPA1L | c.997G>T (p.Asp333Tyr) c.502G>T (p.Asp168Tyr) c.-14+4260C>A (n.-14+4260C>A) | |
6 | g.31816754A>C | CA363414032 | HSPA1A,HSPA1L | c.998A>C (p.Asp333Ala) c.503A>C (p.Asp168Ala) c.-14+4259T>G (n.-14+4259T>G) | |
6 | g.31816754A>G | CA363414039 | HSPA1A,HSPA1L | c.998A>G (p.Asp333Gly) c.503A>G (p.Asp168Gly) c.-14+4259T>C (n.-14+4259T>C) | |
6 | g.31816754A>T | CA363414034 | HSPA1A,HSPA1L | c.998A>T (p.Asp333Val) c.503A>T (p.Asp168Val) c.-14+4259T>A (n.-14+4259T>A) | |
6 | g.31816755C>A | CA363414055 | HSPA1A,HSPA1L | c.999C>A (p.Asp333Glu) c.504C>A (p.Asp168Glu) c.-14+4258G>T (n.-14+4258G>T) | |
6 | g.31816755C>G | CA363414058 | HSPA1A,HSPA1L | c.999C>G (p.Asp333Glu) c.504C>G (p.Asp168Glu) c.-14+4258G>C (n.-14+4258G>C) | |
6 | g.31816755C>T | CA449805870 | HSPA1A,HSPA1L | c.999C>T (p.Asp333=) c.504C>T (p.Asp168=) c.-14+4258G>A (n.-14+4258G>A) | |
6 | g.31816756C>A | CA363414063 | HSPA1A,HSPA1L | c.1000C>A (p.Leu334Met) c.505C>A (p.Leu169Met) c.-14+4257G>T (n.-14+4257G>T) | |
6 | g.31816756C>G | CA363414071 | HSPA1A,HSPA1L | c.1000C>G (p.Leu334Val) c.505C>G (p.Leu169Val) c.-14+4257G>C (n.-14+4257G>C) | |
6 | g.31816756C>T | CA449805874 | HSPA1A,HSPA1L | c.1000C>T (p.Leu334=) c.505C>T (p.Leu169=) c.-14+4257G>A (n.-14+4257G>A) | |
6 | g.31816757T>A | CA363414077 | HSPA1A,HSPA1L | c.1001T>A (p.Leu334Gln) c.506T>A (p.Leu169Gln) c.-14+4256A>T (n.-14+4256A>T) | |
6 | g.31816757T>C | CA363414080 | HSPA1A,HSPA1L | c.1001T>C (p.Leu334Pro) c.506T>C (p.Leu169Pro) c.-14+4256A>G (n.-14+4256A>G) | |
6 | g.31816757T>G | CA363414081 | HSPA1A,HSPA1L | c.1001T>G (p.Leu334Arg) c.506T>G (p.Leu169Arg) c.-14+4256A>C (n.-14+4256A>C) | |
6 | g.31816758G>A | CA449805876 | HSPA1A,HSPA1L | c.1002G>A (p.Leu334=) c.507G>A (p.Leu169=) c.-14+4255C>T (n.-14+4255C>T) | |
6 | g.31816758G>C | CA449805875 | HSPA1A,HSPA1L | c.1002G>C (p.Leu334=) c.507G>C (p.Leu169=) c.-14+4255C>G (n.-14+4255C>G) | gnomAD v4 |
6 | g.31816758G>T | CA449805878 | HSPA1A,HSPA1L | c.1002G>T (p.Leu334=) c.507G>T (p.Leu169=) c.-14+4255C>A (n.-14+4255C>A) | |
6 | g.31816759G>A | CA363414084 | HSPA1A,HSPA1L | c.1003G>A (p.Val335Ile) c.508G>A (p.Val170Ile) c.-14+4254C>T (n.-14+4254C>T) | |
6 | g.31816759G>C | CA363414089 | HSPA1A,HSPA1L | c.1003G>C (p.Val335Leu) c.508G>C (p.Val170Leu) c.-14+4254C>G (n.-14+4254C>G) | gnomAD v4 |
6 | g.31816759G>T | CA363414092 | HSPA1A,HSPA1L | c.1003G>T (p.Val335Phe) c.508G>T (p.Val170Phe) c.-14+4254C>A (n.-14+4254C>A) | |
6 | g.31816760T>A | CA363414110 | HSPA1A,HSPA1L | c.1004T>A (p.Val335Asp) c.509T>A (p.Val170Asp) c.-14+4253A>T (n.-14+4253A>T) | |
6 | g.31816760T>C | CA363414117 | HSPA1A,HSPA1L | c.1004T>C (p.Val335Ala) c.509T>C (p.Val170Ala) c.-14+4253A>G (n.-14+4253A>G) | |
6 | g.31816760T>G | CA363414122 | HSPA1A,HSPA1L | c.1004T>G (p.Val335Gly) c.509T>G (p.Val170Gly) c.-14+4253A>C (n.-14+4253A>C) | gnomAD v4 |
6 | g.31816761C>A | CA449805880 | HSPA1A,HSPA1L | c.1005C>A (p.Val335=) c.510C>A (p.Val170=) c.-14+4252G>T (n.-14+4252G>T) | |
6 | g.31816761C= | CA1619307533 | HSPA1A,HSPA1L | c.1005C= (p.Val335=) c.510C= (p.Val170=) c.-14+4252G= (n.-14+4252G=) | |
6 | g.31816761C>G | CA449805881 | HSPA1A,HSPA1L | c.1005C>G (p.Val335=) c.510C>G (p.Val170=) c.-14+4252G>C (n.-14+4252G>C) | |
6 | g.31816761C>T | CA449805882 | HSPA1A,HSPA1L | c.1005C>T (p.Val335=) c.510C>T (p.Val170=) c.-14+4252G>A (n.-14+4252G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816762C>A | CA363414123 | HSPA1A,HSPA1L | c.1006C>A (p.Leu336Met) c.511C>A (p.Leu171Met) c.-14+4251G>T (n.-14+4251G>T) | |
6 | g.31816762C>G | CA363414124 | HSPA1A,HSPA1L | c.1006C>G (p.Leu336Val) c.511C>G (p.Leu171Val) c.-14+4251G>C (n.-14+4251G>C) | |
6 | g.31816762C>T | CA449805884 | HSPA1A,HSPA1L | c.1006C>T (p.Leu336=) c.511C>T (p.Leu171=) c.-14+4251G>A (n.-14+4251G>A) | |
6 | g.31816763T>A | CA363414126 | HSPA1A,HSPA1L | c.1007T>A (p.Leu336Gln) c.512T>A (p.Leu171Gln) c.-14+4250A>T (n.-14+4250A>T) | |
6 | g.31816763T>C | CA363414129 | HSPA1A,HSPA1L | c.1007T>C (p.Leu336Pro) c.512T>C (p.Leu171Pro) c.-14+4250A>G (n.-14+4250A>G) | |
6 | g.31816763T>G | CA363414131 | HSPA1A,HSPA1L | c.1007T>G (p.Leu336Arg) c.512T>G (p.Leu171Arg) c.-14+4250A>C (n.-14+4250A>C) | |
6 | g.31816764G>A | CA449805886 | HSPA1A,HSPA1L | c.1008G>A (p.Leu336=) c.513G>A (p.Leu171=) c.-14+4249C>T (n.-14+4249C>T) | |
6 | g.31816764G>C | CA449805887 | HSPA1A,HSPA1L | c.1008G>C (p.Leu336=) c.513G>C (p.Leu171=) c.-14+4249C>G (n.-14+4249C>G) | |
6 | g.31816764G>T | CA449805888 | HSPA1A,HSPA1L | c.1008G>T (p.Leu336=) c.513G>T (p.Leu171=) c.-14+4249C>A (n.-14+4249C>A) | |
6 | g.31816765G>A | CA363414138 | HSPA1A,HSPA1L | c.1009G>A (p.Val337Ile) c.514G>A (p.Val172Ile) c.-14+4248C>T (n.-14+4248C>T) | |
6 | g.31816765G>C | CA363414144 | HSPA1A,HSPA1L | c.1009G>C (p.Val337Leu) c.514G>C (p.Val172Leu) c.-14+4248C>G (n.-14+4248C>G) | gnomAD v4 |
6 | g.31816765G>T | CA363414148 | HSPA1A,HSPA1L | c.1009G>T (p.Val337Phe) c.514G>T (p.Val172Phe) c.-14+4248C>A (n.-14+4248C>A) | |
6 | g.31816766T>A | CA363414152 | HSPA1A,HSPA1L | c.1010T>A (p.Val337Asp) c.515T>A (p.Val172Asp) c.-14+4247A>T (n.-14+4247A>T) | |
6 | g.31816766T>C | CA363414155 | HSPA1A,HSPA1L | c.1010T>C (p.Val337Ala) c.515T>C (p.Val172Ala) c.-14+4247A>G (n.-14+4247A>G) | |
6 | g.31816766T>G | CA363414156 | HSPA1A,HSPA1L | c.1010T>G (p.Val337Gly) c.515T>G (p.Val172Gly) c.-14+4247A>C (n.-14+4247A>C) | gnomAD v4 |
6 | g.31816767C>A | CA449805893 | HSPA1A,HSPA1L | c.1011C>A (p.Val337=) c.516C>A (p.Val172=) c.-14+4246G>T (n.-14+4246G>T) | |
6 | g.31816767C>G | CA449805894 | HSPA1A,HSPA1L | c.1011C>G (p.Val337=) c.516C>G (p.Val172=) c.-14+4246G>C (n.-14+4246G>C) | |
6 | g.31816767C>T | CA449805896 | HSPA1A,HSPA1L | c.1011C>T (p.Val337=) c.516C>T (p.Val172=) c.-14+4246G>A (n.-14+4246G>A) | |
6 | g.31816768G>A | CA363414157 | HSPA1A,HSPA1L | c.1012G>A (p.Gly338Arg) c.517G>A (p.Gly173Arg) c.-14+4245C>T (n.-14+4245C>T) | gnomAD v4 |
6 | g.31816768G>C | CA363414160 | HSPA1A,HSPA1L | c.1012G>C (p.Gly338Arg) c.517G>C (p.Gly173Arg) c.-14+4245C>G (n.-14+4245C>G) | |
6 | g.31816768G>T | CA363414163 | HSPA1A,HSPA1L | c.1012G>T (p.Gly338Trp) c.517G>T (p.Gly173Trp) c.-14+4245C>A (n.-14+4245C>A) | |
6 | g.31816769G>A | CA363414171 | HSPA1A,HSPA1L | c.1013G>A (p.Gly338Glu) c.518G>A (p.Gly173Glu) c.-14+4244C>T (n.-14+4244C>T) | |
6 | g.31816769G>C | CA363414168 | HSPA1A,HSPA1L | c.1013G>C (p.Gly338Ala) c.518G>C (p.Gly173Ala) c.-14+4244C>G (n.-14+4244C>G) | |
6 | g.31816769G>T | CA363414166 | HSPA1A,HSPA1L | c.1013G>T (p.Gly338Val) c.518G>T (p.Gly173Val) c.-14+4244C>A (n.-14+4244C>A) | |
6 | g.31816770G>A | CA449805900 | HSPA1A,HSPA1L | c.1014G>A (p.Gly338=) c.519G>A (p.Gly173=) c.-14+4243C>T (n.-14+4243C>T) | |
6 | g.31816770G>C | CA449805901 | HSPA1A,HSPA1L | c.1014G>C (p.Gly338=) c.519G>C (p.Gly173=) c.-14+4243C>G (n.-14+4243C>G) | |
6 | g.31816770G>T | CA449805902 | HSPA1A,HSPA1L | c.1014G>T (p.Gly338=) c.519G>T (p.Gly173=) c.-14+4243C>A (n.-14+4243C>A) | |
6 | g.31816771G>A | CA363414182 | HSPA1A,HSPA1L | c.1015G>A (p.Gly339Ser) c.520G>A (p.Gly174Ser) c.-14+4242C>T (n.-14+4242C>T) | |
6 | g.31816771G>C | CA363414176 | HSPA1A,HSPA1L | c.1015G>C (p.Gly339Arg) c.520G>C (p.Gly174Arg) c.-14+4242C>G (n.-14+4242C>G) | |
6 | g.31816771G>T | CA363414178 | HSPA1A,HSPA1L | c.1015G>T (p.Gly339Cys) c.520G>T (p.Gly174Cys) c.-14+4242C>A (n.-14+4242C>A) | |
6 | g.31816772G>A | CA363414186 | HSPA1A,HSPA1L | c.1016G>A (p.Gly339Asp) c.521G>A (p.Gly174Asp) c.-14+4241C>T (n.-14+4241C>T) | |
6 | g.31816772G>C | CA363414189 | HSPA1A,HSPA1L | c.1016G>C (p.Gly339Ala) c.521G>C (p.Gly174Ala) c.-14+4241C>G (n.-14+4241C>G) | |
6 | g.31816772G>T | CA363414198 | HSPA1A,HSPA1L | c.1016G>T (p.Gly339Val) c.521G>T (p.Gly174Val) c.-14+4241C>A (n.-14+4241C>A) | |
6 | g.31816772_31816773delinsGC | CA1619307534 | HSPA1A,HSPA1L | c.1016_1017delinsGC (p.Gly339=) c.521_522delinsGC (p.Gly174=) c.-14+4240_-14+4241delinsGC (n.-14+4240_-14+4241delinsGC) | |
6 | g.31816773del | CA566692216 | HSPA1A,HSPA1L | c.1017del (p.Ser340ProfsTer20) c.522del (p.Ser175ProfsTer20) c.-14+4240del (n.-14+4240del) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816773C>A | CA449805910 | HSPA1A,HSPA1L | c.1017C>A (p.Gly339=) c.522C>A (p.Gly174=) c.-14+4240G>T (n.-14+4240G>T) | |
6 | g.31816773C>G | CA449805909 | HSPA1A,HSPA1L | c.1017C>G (p.Gly339=) c.522C>G (p.Gly174=) c.-14+4240G>C (n.-14+4240G>C) | |
6 | g.31816773C>T | CA449805908 | HSPA1A,HSPA1L | c.1017C>T (p.Gly339=) c.522C>T (p.Gly174=) c.-14+4240G>A (n.-14+4240G>A) | gnomAD v4 |
6 | g.31816774T>A | CA363414207 | HSPA1A,HSPA1L | c.1018T>A (p.Ser340Thr) c.523T>A (p.Ser175Thr) c.-14+4239A>T (n.-14+4239A>T) | |
6 | g.31816774T>C | CA363414205 | HSPA1A,HSPA1L | c.1018T>C (p.Ser340Pro) c.523T>C (p.Ser175Pro) c.-14+4239A>G (n.-14+4239A>G) | |
6 | g.31816774T>G | CA363414203 | HSPA1A,HSPA1L | c.1018T>G (p.Ser340Ala) c.523T>G (p.Ser175Ala) c.-14+4239A>C (n.-14+4239A>C) | |
6 | g.31816775C>A | CA363414210 | HSPA1A,HSPA1L | c.1019C>A (p.Ser340Tyr) c.524C>A (p.Ser175Tyr) c.-14+4238G>T (n.-14+4238G>T) | |
6 | g.31816775C>G | CA363414211 | HSPA1A,HSPA1L | c.1019C>G (p.Ser340Cys) c.524C>G (p.Ser175Cys) c.-14+4238G>C (n.-14+4238G>C) | |
6 | g.31816775C>T | CA363414212 | HSPA1A,HSPA1L | c.1019C>T (p.Ser340Phe) c.524C>T (p.Ser175Phe) c.-14+4238G>A (n.-14+4238G>A) | |
6 | g.31816776C>A | CA449805913 | HSPA1A,HSPA1L | c.1020C>A (p.Ser340=) c.525C>A (p.Ser175=) c.-14+4237G>T (n.-14+4237G>T) | |
6 | g.31816776C>G | CA449805914 | HSPA1A,HSPA1L | c.1020C>G (p.Ser340=) c.525C>G (p.Ser175=) c.-14+4237G>C (n.-14+4237G>C) | |
6 | g.31816776C>T | CA449805915 | HSPA1A,HSPA1L | c.1020C>T (p.Ser340=) c.525C>T (p.Ser175=) c.-14+4237G>A (n.-14+4237G>A) | gnomAD v4 |
6 | g.31816777A>C | CA363414216 | HSPA1A,HSPA1L | c.1021A>C (p.Thr341Pro) c.526A>C (p.Thr176Pro) c.-14+4236T>G (n.-14+4236T>G) | |
6 | g.31816777A>G | CA363414218 | HSPA1A,HSPA1L | c.1021A>G (p.Thr341Ala) c.526A>G (p.Thr176Ala) c.-14+4236T>C (n.-14+4236T>C) | |
6 | g.31816777A>T | CA363414220 | HSPA1A,HSPA1L | c.1021A>T (p.Thr341Ser) c.526A>T (p.Thr176Ser) c.-14+4236T>A (n.-14+4236T>A) | gnomAD v4 |
6 | g.31816778C>A | CA363414229 | HSPA1A,HSPA1L | c.1022C>A (p.Thr341Asn) c.527C>A (p.Thr176Asn) c.-14+4235G>T (n.-14+4235G>T) | |
6 | g.31816778C>G | CA363414224 | HSPA1A,HSPA1L | c.1022C>G (p.Thr341Ser) c.527C>G (p.Thr176Ser) c.-14+4235G>C (n.-14+4235G>C) | |
6 | g.31816778C>T | CA363414227 | HSPA1A,HSPA1L | c.1022C>T (p.Thr341Ile) c.527C>T (p.Thr176Ile) c.-14+4235G>A (n.-14+4235G>A) | |
6 | g.31816779C>A | CA449805925 | HSPA1A,HSPA1L | c.1023C>A (p.Thr341=) c.528C>A (p.Thr176=) c.-14+4234G>T (n.-14+4234G>T) | |
6 | g.31816779C>G | CA449805926 | HSPA1A,HSPA1L | c.1023C>G (p.Thr341=) c.528C>G (p.Thr176=) c.-14+4234G>C (n.-14+4234G>C) | |
6 | g.31816779C>T | CA449805927 | HSPA1A,HSPA1L | c.1023C>T (p.Thr341=) c.528C>T (p.Thr176=) c.-14+4234G>A (n.-14+4234G>A) | |
6 | g.31816780C>A | CA363414232 | HSPA1A,HSPA1L | c.1024C>A (p.Arg342Ser) c.529C>A (p.Arg177Ser) c.-14+4233G>T (n.-14+4233G>T) | |
6 | g.31816780C= | CA1619307535 | HSPA1A,HSPA1L | c.1024C= (p.Arg342=) c.529C= (p.Arg177=) c.-14+4233G= (n.-14+4233G=) | |
6 | g.31816780C>G | CA363414236 | HSPA1A,HSPA1L | c.1024C>G (p.Arg342Gly) c.529C>G (p.Arg177Gly) c.-14+4233G>C (n.-14+4233G>C) | |
6 | g.31816780C>T | CA363414238 | HSPA1A,HSPA1L | c.1024C>T (p.Arg342Cys) c.529C>T (p.Arg177Cys) c.-14+4233G>A (n.-14+4233G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816781G>A | CA363414241 | HSPA1A,HSPA1L | c.1025G>A (p.Arg342His) c.530G>A (p.Arg177His) c.-14+4232C>T (n.-14+4232C>T) | gnomAD v4 |
6 | g.31816781G>C | CA363414243 | HSPA1A,HSPA1L | c.1025G>C (p.Arg342Pro) c.530G>C (p.Arg177Pro) c.-14+4232C>G (n.-14+4232C>G) | |
6 | g.31816781G>T | CA363414245 | HSPA1A,HSPA1L | c.1025G>T (p.Arg342Leu) c.530G>T (p.Arg177Leu) c.-14+4232C>A (n.-14+4232C>A) | |
6 | g.31816782C>A | CA449805933 | HSPA1A,HSPA1L | c.1026C>A (p.Arg342=) c.531C>A (p.Arg177=) c.-14+4231G>T (n.-14+4231G>T) | |
6 | g.31816782C>G | CA449805936 | HSPA1A,HSPA1L | c.1026C>G (p.Arg342=) c.531C>G (p.Arg177=) c.-14+4231G>C (n.-14+4231G>C) | |
6 | g.31816782C>T | CA449805937 | HSPA1A,HSPA1L | c.1026C>T (p.Arg342=) c.531C>T (p.Arg177=) c.-14+4231G>A (n.-14+4231G>A) | |
6 | g.31816783A>C | CA363414248 | HSPA1A,HSPA1L | c.1027A>C (p.Ile343Leu) c.532A>C (p.Ile178Leu) c.-14+4230T>G (n.-14+4230T>G) | gnomAD v4 |
6 | g.31816783A>G | CA363414250 | HSPA1A,HSPA1L | c.1027A>G (p.Ile343Val) c.532A>G (p.Ile178Val) c.-14+4230T>C (n.-14+4230T>C) | |
6 | g.31816783A>T | CA363414252 | HSPA1A,HSPA1L | c.1027A>T (p.Ile343Phe) c.532A>T (p.Ile178Phe) c.-14+4230T>A (n.-14+4230T>A) | |
6 | g.31816784T>A | CA363414258 | HSPA1A,HSPA1L | c.1028T>A (p.Ile343Asn) c.533T>A (p.Ile178Asn) c.-14+4229A>T (n.-14+4229A>T) | |
6 | g.31816784T>C | CA363414265 | HSPA1A,HSPA1L | c.1028T>C (p.Ile343Thr) c.533T>C (p.Ile178Thr) c.-14+4229A>G (n.-14+4229A>G) | |
6 | g.31816784T>G | CA363414268 | HSPA1A,HSPA1L | c.1028T>G (p.Ile343Ser) c.533T>G (p.Ile178Ser) c.-14+4229A>C (n.-14+4229A>C) | |
6 | g.31816785C>A | CA449805947 | HSPA1A,HSPA1L | c.1029C>A (p.Ile343=) c.534C>A (p.Ile178=) c.-14+4228G>T (n.-14+4228G>T) | gnomAD v4 |
6 | g.31816785C>G | CA363414273 | HSPA1A,HSPA1L | c.1029C>G (p.Ile343Met) c.534C>G (p.Ile178Met) c.-14+4228G>C (n.-14+4228G>C) | |
6 | g.31816785C>T | CA449805948 | HSPA1A,HSPA1L | c.1029C>T (p.Ile343=) c.534C>T (p.Ile178=) c.-14+4228G>A (n.-14+4228G>A) | |
6 | g.31816788dup | CA2678044338 | HSPA1A,HSPA1L | c.1032dup (p.Lys345GlnfsTer?) c.537dup (p.Lys180GlnfsTer?) c.-14+4228dup (n.-14+4228dup) | gnomAD v4 |
6 | g.31816786C>A | CA363414278 | HSPA1A,HSPA1L | c.1030C>A (p.Pro344Thr) c.535C>A (p.Pro179Thr) c.-14+4227G>T (n.-14+4227G>T) | |
6 | g.31816786C>G | CA363414284 | HSPA1A,HSPA1L | c.1030C>G (p.Pro344Ala) c.535C>G (p.Pro179Ala) c.-14+4227G>C (n.-14+4227G>C) | |
6 | g.31816786C>T | CA363414281 | HSPA1A,HSPA1L | c.1030C>T (p.Pro344Ser) c.535C>T (p.Pro179Ser) c.-14+4227G>A (n.-14+4227G>A) | |
6 | g.31816787C>A | CA363414289 | HSPA1A,HSPA1L | c.1031C>A (p.Pro344His) c.536C>A (p.Pro179His) c.-14+4226G>T (n.-14+4226G>T) | |
6 | g.31816787C>G | CA363414293 | HSPA1A,HSPA1L | c.1031C>G (p.Pro344Arg) c.536C>G (p.Pro179Arg) c.-14+4226G>C (n.-14+4226G>C) | |
6 | g.31816787C>T | CA363414308 | HSPA1A,HSPA1L | c.1031C>T (p.Pro344Leu) c.536C>T (p.Pro179Leu) c.-14+4226G>A (n.-14+4226G>A) | |
6 | g.31816788C>A | CA449805952 | HSPA1A,HSPA1L | c.1032C>A (p.Pro344=) c.537C>A (p.Pro179=) c.-14+4225G>T (n.-14+4225G>T) | |
6 | g.31816788C>G | CA449805954 | HSPA1A,HSPA1L | c.1032C>G (p.Pro344=) c.537C>G (p.Pro179=) c.-14+4225G>C (n.-14+4225G>C) | |
6 | g.31816788C>T | CA449805956 | HSPA1A,HSPA1L | c.1032C>T (p.Pro344=) c.537C>T (p.Pro179=) c.-14+4225G>A (n.-14+4225G>A) | |
6 | g.31816789A>C | CA363414311 | HSPA1A,HSPA1L | c.1033A>C (p.Lys345Gln) c.538A>C (p.Lys180Gln) c.-14+4224T>G (n.-14+4224T>G) | gnomAD v4 |
6 | g.31816789A>G | CA363414314 | HSPA1A,HSPA1L | c.1033A>G (p.Lys345Glu) c.538A>G (p.Lys180Glu) c.-14+4224T>C (n.-14+4224T>C) | |
6 | g.31816789A>T | CA363414318 | HSPA1A,HSPA1L | c.1033A>T (p.Lys345Ter) c.538A>T (p.Lys180Ter) c.-14+4224T>A (n.-14+4224T>A) | |
6 | g.31816790A>C | CA363414334 | HSPA1A,HSPA1L | c.1034A>C (p.Lys345Thr) c.539A>C (p.Lys180Thr) c.-14+4223T>G (n.-14+4223T>G) | gnomAD v4 |
6 | g.31816790A>G | CA363414324 | HSPA1A,HSPA1L | c.1034A>G (p.Lys345Arg) c.539A>G (p.Lys180Arg) c.-14+4223T>C (n.-14+4223T>C) | |
6 | g.31816790A>T | CA363414329 | HSPA1A,HSPA1L | c.1034A>T (p.Lys345Met) c.539A>T (p.Lys180Met) c.-14+4223T>A (n.-14+4223T>A) | gnomAD v4 |
6 | g.31816791G>A | CA449805971 | HSPA1A,HSPA1L | c.1035G>A (p.Lys345=) c.540G>A (p.Lys180=) c.-14+4222C>T (n.-14+4222C>T) | |
6 | g.31816791G>C | CA363414338 | HSPA1A,HSPA1L | c.1035G>C (p.Lys345Asn) c.540G>C (p.Lys180Asn) c.-14+4222C>G (n.-14+4222C>G) | |
6 | g.31816791G>T | CA363414341 | HSPA1A,HSPA1L | c.1035G>T (p.Lys345Asn) c.540G>T (p.Lys180Asn) c.-14+4222C>A (n.-14+4222C>A) | |
6 | g.31816792G>A | CA363414347 | HSPA1A,HSPA1L | c.1036G>A (p.Val346Met) c.541G>A (p.Val181Met) c.-14+4221C>T (n.-14+4221C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816792G>C | CA363414360 | HSPA1A,HSPA1L | c.1036G>C (p.Val346Leu) c.541G>C (p.Val181Leu) c.-14+4221C>G (n.-14+4221C>G) | |
6 | g.31816792G= | CA1619307536 | HSPA1A,HSPA1L | c.1036G= (p.Val346=) c.541G= (p.Val181=) c.-14+4221C= (n.-14+4221C=) | |
6 | g.31816792G>T | CA363414368 | HSPA1A,HSPA1L | c.1036G>T (p.Val346Leu) c.541G>T (p.Val181Leu) c.-14+4221C>A (n.-14+4221C>A) | |
6 | g.31816793T>A | CA363414373 | HSPA1A,HSPA1L | c.1037T>A (p.Val346Glu) c.542T>A (p.Val181Glu) c.-14+4220A>T (n.-14+4220A>T) | |
6 | g.31816793T>C | CA363414378 | HSPA1A,HSPA1L | c.1037T>C (p.Val346Ala) c.542T>C (p.Val181Ala) c.-14+4220A>G (n.-14+4220A>G) | |
6 | g.31816793T>G | CA363414376 | HSPA1A,HSPA1L | c.1037T>G (p.Val346Gly) c.542T>G (p.Val181Gly) c.-14+4220A>C (n.-14+4220A>C) | |
6 | g.31816794G>A | CA449805982 | HSPA1A,HSPA1L | c.1038G>A (p.Val346=) c.543G>A (p.Val181=) c.-14+4219C>T (n.-14+4219C>T) | |
6 | g.31816794G>C | CA449805981 | HSPA1A,HSPA1L | c.1038G>C (p.Val346=) c.543G>C (p.Val181=) c.-14+4219C>G (n.-14+4219C>G) | |
6 | g.31816794G>T | CA449805980 | HSPA1A,HSPA1L | c.1038G>T (p.Val346=) c.543G>T (p.Val181=) c.-14+4219C>A (n.-14+4219C>A) | |
6 | g.31816795C>A | CA363414380 | HSPA1A,HSPA1L | c.1039C>A (p.Gln347Lys) c.544C>A (p.Gln182Lys) c.-14+4218G>T (n.-14+4218G>T) | |
6 | g.31816795C>G | CA363414383 | HSPA1A,HSPA1L | c.1039C>G (p.Gln347Glu) c.544C>G (p.Gln182Glu) c.-14+4218G>C (n.-14+4218G>C) | |
6 | g.31816795C>T | CA363414388 | HSPA1A,HSPA1L | c.1039C>T (p.Gln347Ter) c.544C>T (p.Gln182Ter) c.-14+4218G>A (n.-14+4218G>A) | gnomAD v4 |
6 | g.31816796A>C | CA363414395 | HSPA1A,HSPA1L | c.1040A>C (p.Gln347Pro) c.545A>C (p.Gln182Pro) c.-14+4217T>G (n.-14+4217T>G) | |
6 | g.31816796A>G | CA363414399 | HSPA1A,HSPA1L | c.1040A>G (p.Gln347Arg) c.545A>G (p.Gln182Arg) c.-14+4217T>C (n.-14+4217T>C) | |
6 | g.31816796A>T | CA363414400 | HSPA1A,HSPA1L | c.1040A>T (p.Gln347Leu) c.545A>T (p.Gln182Leu) c.-14+4217T>A (n.-14+4217T>A) | |
6 | g.31816797G>A | CA449805989 | HSPA1A,HSPA1L | c.1041G>A (p.Gln347=) c.546G>A (p.Gln182=) c.-14+4216C>T (n.-14+4216C>T) | |
6 | g.31816797G>C | CA363414406 | HSPA1A,HSPA1L | c.1041G>C (p.Gln347His) c.546G>C (p.Gln182His) c.-14+4216C>G (n.-14+4216C>G) | |
6 | g.31816797G>T | CA363414410 | HSPA1A,HSPA1L | c.1041G>T (p.Gln347His) c.546G>T (p.Gln182His) c.-14+4216C>A (n.-14+4216C>A) | |
6 | g.31816798A>C | CA363414414 | HSPA1A,HSPA1L | c.1042A>C (p.Lys348Gln) c.547A>C (p.Lys183Gln) c.-14+4215T>G (n.-14+4215T>G) | |
6 | g.31816798A>G | CA363414419 | HSPA1A,HSPA1L | c.1042A>G (p.Lys348Glu) c.547A>G (p.Lys183Glu) c.-14+4215T>C (n.-14+4215T>C) | |
6 | g.31816798A>T | CA363414423 | HSPA1A,HSPA1L | c.1042A>T (p.Lys348Ter) c.547A>T (p.Lys183Ter) c.-14+4215T>A (n.-14+4215T>A) | |
6 | g.31816799A>C | CA363414433 | HSPA1A,HSPA1L | c.1043A>C (p.Lys348Thr) c.548A>C (p.Lys183Thr) c.-14+4214T>G (n.-14+4214T>G) | |
6 | g.31816799A>G | CA363414438 | HSPA1A,HSPA1L | c.1043A>G (p.Lys348Arg) c.548A>G (p.Lys183Arg) c.-14+4214T>C (n.-14+4214T>C) | |
6 | g.31816799A>T | CA363414429 | HSPA1A,HSPA1L | c.1043A>T (p.Lys348Met) c.548A>T (p.Lys183Met) c.-14+4214T>A (n.-14+4214T>A) | |
6 | g.31816800G>A | CA449805999 | HSPA1A,HSPA1L | c.1044G>A (p.Lys348=) c.549G>A (p.Lys183=) c.-14+4213C>T (n.-14+4213C>T) | gnomAD v4 |
6 | g.31816800G>C | CA363414443 | HSPA1A,HSPA1L | c.1044G>C (p.Lys348Asn) c.549G>C (p.Lys183Asn) c.-14+4213C>G (n.-14+4213C>G) | |
6 | g.31816800G>T | CA363414452 | HSPA1A,HSPA1L | c.1044G>T (p.Lys348Asn) c.549G>T (p.Lys183Asn) c.-14+4213C>A (n.-14+4213C>A) | |
6 | g.31816801C>A | CA363414463 | HSPA1A,HSPA1L | c.1045C>A (p.Leu349Met) c.550C>A (p.Leu184Met) c.-14+4212G>T (n.-14+4212G>T) | |
6 | g.31816801C>G | CA363414466 | HSPA1A,HSPA1L | c.1045C>G (p.Leu349Val) c.550C>G (p.Leu184Val) c.-14+4212G>C (n.-14+4212G>C) | |
6 | g.31816801C>T | CA449806003 | HSPA1A,HSPA1L | c.1045C>T (p.Leu349=) c.550C>T (p.Leu184=) c.-14+4212G>A (n.-14+4212G>A) | |
6 | g.31816802T>A | CA363414469 | HSPA1A,HSPA1L | c.1046T>A (p.Leu349Gln) c.551T>A (p.Leu184Gln) c.-14+4211A>T (n.-14+4211A>T) | |
6 | g.31816802T>C | CA363414472 | HSPA1A,HSPA1L | c.1046T>C (p.Leu349Pro) c.551T>C (p.Leu184Pro) c.-14+4211A>G (n.-14+4211A>G) | |
6 | g.31816802T>G | CA363414473 | HSPA1A,HSPA1L | c.1046T>G (p.Leu349Arg) c.551T>G (p.Leu184Arg) c.-14+4211A>C (n.-14+4211A>C) | |
6 | g.31816803G>A | CA449806005 | HSPA1A,HSPA1L | c.1047G>A (p.Leu349=) c.552G>A (p.Leu184=) c.-14+4210C>T (n.-14+4210C>T) | |
6 | g.31816803G>C | CA449806007 | HSPA1A,HSPA1L | c.1047G>C (p.Leu349=) c.552G>C (p.Leu184=) c.-14+4210C>G (n.-14+4210C>G) | |
6 | g.31816803G>T | CA449806008 | HSPA1A,HSPA1L | c.1047G>T (p.Leu349=) c.552G>T (p.Leu184=) c.-14+4210C>A (n.-14+4210C>A) | gnomAD v4 |
6 | g.31816804C>A | CA363414474 | HSPA1A,HSPA1L | c.1048C>A (p.Leu350Met) c.553C>A (p.Leu185Met) c.-14+4209G>T (n.-14+4209G>T) | |
6 | g.31816804C>G | CA363414475 | HSPA1A,HSPA1L | c.1048C>G (p.Leu350Val) c.553C>G (p.Leu185Val) c.-14+4209G>C (n.-14+4209G>C) | |
6 | g.31816804C>T | CA449806011 | HSPA1A,HSPA1L | c.1048C>T (p.Leu350=) c.553C>T (p.Leu185=) c.-14+4209G>A (n.-14+4209G>A) | |
6 | g.31816805T>A | CA363414479 | HSPA1A,HSPA1L | c.1049T>A (p.Leu350Gln) c.554T>A (p.Leu185Gln) c.-14+4208A>T (n.-14+4208A>T) | |
6 | g.31816805T>C | CA363414480 | HSPA1A,HSPA1L | c.1049T>C (p.Leu350Pro) c.554T>C (p.Leu185Pro) c.-14+4208A>G (n.-14+4208A>G) | |
6 | g.31816805T>G | CA363414482 | HSPA1A,HSPA1L | c.1049T>G (p.Leu350Arg) c.554T>G (p.Leu185Arg) c.-14+4208A>C (n.-14+4208A>C) | |
6 | g.31816806G>A | CA449806015 | HSPA1A,HSPA1L | c.1050G>A (p.Leu350=) c.555G>A (p.Leu185=) c.-14+4207C>T (n.-14+4207C>T) | gnomAD v4 |
6 | g.31816806G>C | CA449806016 | HSPA1A,HSPA1L | c.1050G>C (p.Leu350=) c.555G>C (p.Leu185=) c.-14+4207C>G (n.-14+4207C>G) | |
6 | g.31816806G>T | CA449806017 | HSPA1A,HSPA1L | c.1050G>T (p.Leu350=) c.555G>T (p.Leu185=) c.-14+4207C>A (n.-14+4207C>A) | |
6 | g.31816807C>A | CA363414484 | HSPA1A,HSPA1L | c.1051C>A (p.Gln351Lys) c.556C>A (p.Gln186Lys) c.-14+4206G>T (n.-14+4206G>T) | |
6 | g.31816807C>G | CA363414486 | HSPA1A,HSPA1L | c.1051C>G (p.Gln351Glu) c.556C>G (p.Gln186Glu) c.-14+4206G>C (n.-14+4206G>C) | |
6 | g.31816807C>T | CA363414487 | HSPA1A,HSPA1L | c.1051C>T (p.Gln351Ter) c.556C>T (p.Gln186Ter) c.-14+4206G>A (n.-14+4206G>A) | |
6 | g.31816808A>C | CA363414488 | HSPA1A,HSPA1L | c.1052A>C (p.Gln351Pro) c.557A>C (p.Gln186Pro) c.-14+4205T>G (n.-14+4205T>G) | |
6 | g.31816808A>G | CA363414495 | HSPA1A,HSPA1L | c.1052A>G (p.Gln351Arg) c.557A>G (p.Gln186Arg) c.-14+4205T>C (n.-14+4205T>C) | |
6 | g.31816808A>T | CA363414490 | HSPA1A,HSPA1L | c.1052A>T (p.Gln351Leu) c.557A>T (p.Gln186Leu) c.-14+4205T>A (n.-14+4205T>A) | gnomAD v4 |
6 | g.31816809G>A | CA136893241 | HSPA1A,HSPA1L | c.1053G>A (p.Gln351=) c.558G>A (p.Gln186=) c.-14+4204C>T (n.-14+4204C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816809G>C | CA363414502 | HSPA1A,HSPA1L | c.1053G>C (p.Gln351His) c.558G>C (p.Gln186His) c.-14+4204C>G (n.-14+4204C>G) | |
6 | g.31816809G= | CA1619307537 | HSPA1A,HSPA1L | c.1053G= (p.Gln351=) c.558G= (p.Gln186=) c.-14+4204C= (n.-14+4204C=) | |
6 | g.31816809G>T | CA363414513 | HSPA1A,HSPA1L | c.1053G>T (p.Gln351His) c.558G>T (p.Gln186His) c.-14+4204C>A (n.-14+4204C>A) | |
6 | g.31816810G>A | CA363414515 | HSPA1A,HSPA1L | c.1054G>A (p.Asp352Asn) c.559G>A (p.Asp187Asn) c.-14+4203C>T (n.-14+4203C>T) | |
6 | g.31816810G>C | CA363414516 | HSPA1A,HSPA1L | c.1054G>C (p.Asp352His) c.559G>C (p.Asp187His) c.-14+4203C>G (n.-14+4203C>G) | |
6 | g.31816810G>T | CA363414518 | HSPA1A,HSPA1L | c.1054G>T (p.Asp352Tyr) c.559G>T (p.Asp187Tyr) c.-14+4203C>A (n.-14+4203C>A) | |
6 | g.31816811A>C | CA363414525 | HSPA1A,HSPA1L | c.1055A>C (p.Asp352Ala) c.560A>C (p.Asp187Ala) c.-14+4202T>G (n.-14+4202T>G) | gnomAD v4 |
6 | g.31816811A>G | CA363414526 | HSPA1A,HSPA1L | c.1055A>G (p.Asp352Gly) c.560A>G (p.Asp187Gly) c.-14+4202T>C (n.-14+4202T>C) | |
6 | g.31816811A>T | CA363414527 | HSPA1A,HSPA1L | c.1055A>T (p.Asp352Val) c.560A>T (p.Asp187Val) c.-14+4202T>A (n.-14+4202T>A) | |
6 | g.31816812C>A | CA363414529 | HSPA1A,HSPA1L | c.1056C>A (p.Asp352Glu) c.561C>A (p.Asp187Glu) c.-14+4201G>T (n.-14+4201G>T) | |
6 | g.31816812C>G | CA363414530 | HSPA1A,HSPA1L | c.1056C>G (p.Asp352Glu) c.561C>G (p.Asp187Glu) c.-14+4201G>C (n.-14+4201G>C) | |
6 | g.31816812C>T | CA449806030 | HSPA1A,HSPA1L | c.1056C>T (p.Asp352=) c.561C>T (p.Asp187=) c.-14+4201G>A (n.-14+4201G>A) | |
6 | g.31816813T>A | CA363414538 | HSPA1A,HSPA1L | c.1057T>A (p.Phe353Ile) c.562T>A (p.Phe188Ile) c.-14+4200A>T (n.-14+4200A>T) | |
6 | g.31816813T>C | CA363414536 | HSPA1A,HSPA1L | c.1057T>C (p.Phe353Leu) c.562T>C (p.Phe188Leu) c.-14+4200A>G (n.-14+4200A>G) | |
6 | g.31816813T>G | CA363414533 | HSPA1A,HSPA1L | c.1057T>G (p.Phe353Val) c.562T>G (p.Phe188Val) c.-14+4200A>C (n.-14+4200A>C) | |
6 | g.31816814T>A | CA363414547 | HSPA1A,HSPA1L | c.1058T>A (p.Phe353Tyr) c.563T>A (p.Phe188Tyr) c.-14+4199A>T (n.-14+4199A>T) | |
6 | g.31816814T>C | CA363414543 | HSPA1A,HSPA1L | c.1058T>C (p.Phe353Ser) c.563T>C (p.Phe188Ser) c.-14+4199A>G (n.-14+4199A>G) | |
6 | g.31816814T>G | CA363414546 | HSPA1A,HSPA1L | c.1058T>G (p.Phe353Cys) c.563T>G (p.Phe188Cys) c.-14+4199A>C (n.-14+4199A>C) | |
6 | g.31816815C>A | CA363414548 | HSPA1A,HSPA1L | c.1059C>A (p.Phe353Leu) c.564C>A (p.Phe188Leu) c.-14+4198G>T (n.-14+4198G>T) | |
6 | g.31816815C>G | CA363414549 | HSPA1A,HSPA1L | c.1059C>G (p.Phe353Leu) c.564C>G (p.Phe188Leu) c.-14+4198G>C (n.-14+4198G>C) | |
6 | g.31816815C>T | CA449806039 | HSPA1A,HSPA1L | c.1059C>T (p.Phe353=) c.564C>T (p.Phe188=) c.-14+4198G>A (n.-14+4198G>A) | gnomAD v4 |
6 | g.31816816T>A | CA363414552 | HSPA1A,HSPA1L | c.1060T>A (p.Phe354Ile) c.565T>A (p.Phe189Ile) c.-14+4197A>T (n.-14+4197A>T) | |
6 | g.31816816T>C | CA363414555 | HSPA1A,HSPA1L | c.1060T>C (p.Phe354Leu) c.565T>C (p.Phe189Leu) c.-14+4197A>G (n.-14+4197A>G) | |
6 | g.31816816T>G | CA363414564 | HSPA1A,HSPA1L | c.1060T>G (p.Phe354Val) c.565T>G (p.Phe189Val) c.-14+4197A>C (n.-14+4197A>C) | |
6 | g.31816817T>A | CA363414569 | HSPA1A,HSPA1L | c.1061T>A (p.Phe354Tyr) c.566T>A (p.Phe189Tyr) c.-14+4196A>T (n.-14+4196A>T) | |
6 | g.31816817T>C | CA363414570 | HSPA1A,HSPA1L | c.1061T>C (p.Phe354Ser) c.566T>C (p.Phe189Ser) c.-14+4196A>G (n.-14+4196A>G) | |
6 | g.31816817T>G | CA363414573 | HSPA1A,HSPA1L | c.1061T>G (p.Phe354Cys) c.566T>G (p.Phe189Cys) c.-14+4196A>C (n.-14+4196A>C) | gnomAD v4 |