| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.76469678T>A | CA401161088 | AANAT | c.332T>A (p.Leu111Gln) c.467T>A (p.Leu156Gln) c.446T>A (p.Leu149Gln) c.*109T>A (n.*109T>A) n.643T>A c.539T>A (p.Leu180Gln) c.422T>A (p.Leu141Gln) n.588T>A | gnomAD v4 |
| 17 | g.76469678T>C | CA401161089 | AANAT | c.332T>C (p.Leu111Pro) c.467T>C (p.Leu156Pro) c.446T>C (p.Leu149Pro) c.*109T>C (n.*109T>C) n.643T>C c.539T>C (p.Leu180Pro) c.422T>C (p.Leu141Pro) n.588T>C | gnomAD v4 |
| 17 | g.76469678T>G | CA401161090 | AANAT | c.332T>G (p.Leu111Arg) c.467T>G (p.Leu156Arg) c.446T>G (p.Leu149Arg) c.*109T>G (n.*109T>G) n.643T>G c.539T>G (p.Leu180Arg) c.422T>G (p.Leu141Arg) n.588T>G | |
| 17 | g.76469679G>A | CA502066522 | AANAT | c.333G>A (p.Leu111=) c.468G>A (p.Leu156=) c.447G>A (p.Leu149=) c.*110G>A (n.*110G>A) n.644G>A c.540G>A (p.Leu180=) c.423G>A (p.Leu141=) n.589G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469679G>C | CA502066524 | AANAT | c.333G>C (p.Leu111=) c.468G>C (p.Leu156=) c.447G>C (p.Leu149=) c.*110G>C (n.*110G>C) n.644G>C c.540G>C (p.Leu180=) c.423G>C (p.Leu141=) n.589G>C | |
| 17 | g.76469679G= | CA2276011920 | AANAT | c.333G= (p.Leu111=) c.468G= (p.Leu156=) c.447G= (p.Leu149=) c.*110G= (n.*110G=) n.644G= c.540G= (p.Leu180=) c.423G= (p.Leu141=) n.589G= | |
| 17 | g.76469679G>T | CA502066525 | AANAT | c.333G>T (p.Leu111=) c.468G>T (p.Leu156=) c.447G>T (p.Leu149=) c.*110G>T (n.*110G>T) n.644G>T c.540G>T (p.Leu180=) c.423G>T (p.Leu141=) n.589G>T | gnomAD v4 |
| 17 | g.76469680C>A | CA401161091 | AANAT | c.334C>A (p.His112Asn) c.469C>A (p.His157Asn) c.448C>A (p.His150Asn) c.*111C>A (n.*111C>A) n.645C>A c.541C>A (p.His181Asn) c.424C>A (p.His142Asn) n.590C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469680C= | CA2276011921 | AANAT | c.334C= (p.His112=) c.469C= (p.His157=) c.448C= (p.His150=) c.*111C= (n.*111C=) n.645C= c.541C= (p.His181=) c.424C= (p.His142=) n.590C= | |
| 17 | g.76469680C>G | CA401161092 | AANAT | c.334C>G (p.His112Asp) c.469C>G (p.His157Asp) c.448C>G (p.His150Asp) c.*111C>G (n.*111C>G) n.645C>G c.541C>G (p.His181Asp) c.424C>G (p.His142Asp) n.590C>G | gnomAD v4 |
| 17 | g.76469680C>T | CA401161093 | AANAT | c.334C>T (p.His112Tyr) c.469C>T (p.His157Tyr) c.448C>T (p.His150Tyr) c.*111C>T (n.*111C>T) n.645C>T c.541C>T (p.His181Tyr) c.424C>T (p.His142Tyr) n.590C>T | gnomAD v4 |
| 17 | g.76469682_76469683del | CA2639996400 | AANAT | c.336_337del (p.His112GlnfsTer?) c.471_472del (p.His157GlnfsTer?) c.450_451del (p.His150GlnfsTer?) c.*113_*114del (n.*113_*114del) n.647_648del c.543_544del (p.His181GlnfsTer?) c.426_427del (p.His142GlnfsTer?) n.592_593del | gnomAD v4 |
| 17 | g.76469681A>C | CA401161094 | AANAT | c.335A>C (p.His112Pro) c.470A>C (p.His157Pro) c.449A>C (p.His150Pro) c.*112A>C (n.*112A>C) n.646A>C c.542A>C (p.His181Pro) c.425A>C (p.His142Pro) n.591A>C | |
| 17 | g.76469681A>G | CA401161095 | AANAT | c.335A>G (p.His112Arg) c.470A>G (p.His157Arg) c.449A>G (p.His150Arg) c.*112A>G (n.*112A>G) n.646A>G c.542A>G (p.His181Arg) c.425A>G (p.His142Arg) n.591A>G | gnomAD v4 |
| 17 | g.76469681A>T | CA401161096 | AANAT | c.335A>T (p.His112Leu) c.470A>T (p.His157Leu) c.449A>T (p.His150Leu) c.*112A>T (n.*112A>T) n.646A>T c.542A>T (p.His181Leu) c.425A>T (p.His142Leu) n.591A>T | gnomAD v4 |
| 17 | g.76469682C>A | CA401161097 | AANAT | c.336C>A (p.His112Gln) c.471C>A (p.His157Gln) c.450C>A (p.His150Gln) c.*113C>A (n.*113C>A) n.647C>A c.543C>A (p.His181Gln) c.426C>A (p.His142Gln) n.592C>A | gnomAD v4 |
| 17 | g.76469682C= | CA2276011922 | AANAT | c.336C= (p.His112=) c.471C= (p.His157=) c.450C= (p.His150=) c.*113C= (n.*113C=) n.647C= c.543C= (p.His181=) c.426C= (p.His142=) n.592C= | |
| 17 | g.76469682C>G | CA401161098 | AANAT | c.336C>G (p.His112Gln) c.471C>G (p.His157Gln) c.450C>G (p.His150Gln) c.*113C>G (n.*113C>G) n.647C>G c.543C>G (p.His181Gln) c.426C>G (p.His142Gln) n.592C>G | |
| 17 | g.76469682C>T | CA8786571 | AANAT | c.336C>T (p.His112=) c.471C>T (p.His157=) c.450C>T (p.His150=) c.*113C>T (n.*113C>T) n.647C>T c.543C>T (p.His181=) c.426C>T (p.His142=) n.592C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469683A>C | CA502066536 | AANAT | c.337A>C (p.Arg113=) c.472A>C (p.Arg158=) c.451A>C (p.Arg151=) c.*114A>C (n.*114A>C) n.648A>C c.544A>C (p.Arg182=) c.427A>C (p.Arg143=) n.593A>C | |
| 17 | g.76469683A>G | CA401161100 | AANAT | c.337A>G (p.Arg113Gly) c.472A>G (p.Arg158Gly) c.451A>G (p.Arg151Gly) c.*114A>G (n.*114A>G) n.648A>G c.544A>G (p.Arg182Gly) c.427A>G (p.Arg143Gly) n.593A>G | gnomAD v4 |
| 17 | g.76469683A>T | CA401161099 | AANAT | c.337A>T (p.Arg113Trp) c.472A>T (p.Arg158Trp) c.451A>T (p.Arg151Trp) c.*114A>T (n.*114A>T) n.648A>T c.544A>T (p.Arg182Trp) c.427A>T (p.Arg143Trp) n.593A>T | gnomAD v4 |
| 17 | g.76469684G>A | CA401161101 | AANAT | c.338G>A (p.Arg113Lys) c.473G>A (p.Arg158Lys) c.452G>A (p.Arg151Lys) c.*115G>A (n.*115G>A) n.649G>A c.545G>A (p.Arg182Lys) c.428G>A (p.Arg143Lys) n.594G>A | |
| 17 | g.76469684G>C | CA401161102 | AANAT | c.338G>C (p.Arg113Thr) c.473G>C (p.Arg158Thr) c.452G>C (p.Arg151Thr) c.*115G>C (n.*115G>C) n.649G>C c.545G>C (p.Arg182Thr) c.428G>C (p.Arg143Thr) n.594G>C | |
| 17 | g.76469684G>T | CA401161103 | AANAT | c.338G>T (p.Arg113Met) c.473G>T (p.Arg158Met) c.452G>T (p.Arg151Met) c.*115G>T (n.*115G>T) n.649G>T c.545G>T (p.Arg182Met) c.428G>T (p.Arg143Met) n.594G>T | gnomAD v4 |
| 17 | g.76469685G>A | CA502066542 | AANAT | c.339G>A (p.Arg113=) c.474G>A (p.Arg158=) c.453G>A (p.Arg151=) c.*116G>A (n.*116G>A) n.650G>A c.546G>A (p.Arg182=) c.429G>A (p.Arg143=) n.595G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469685G>C | CA401161104 | AANAT | c.339G>C (p.Arg113Ser) c.474G>C (p.Arg158Ser) c.453G>C (p.Arg151Ser) c.*116G>C (n.*116G>C) n.650G>C c.546G>C (p.Arg182Ser) c.429G>C (p.Arg143Ser) n.595G>C | |
| 17 | g.76469685G= | CA2276011923 | AANAT | c.339G= (p.Arg113=) c.474G= (p.Arg158=) c.453G= (p.Arg151=) c.*116G= (n.*116G=) n.650G= c.546G= (p.Arg182=) c.429G= (p.Arg143=) n.595G= | |
| 17 | g.76469685G>T | CA401161105 | AANAT | c.339G>T (p.Arg113Ser) c.474G>T (p.Arg158Ser) c.453G>T (p.Arg151Ser) c.*116G>T (n.*116G>T) n.650G>T c.546G>T (p.Arg182Ser) c.429G>T (p.Arg143Ser) n.595G>T | gnomAD v4 |
| 17 | g.76469686T>A | CA401161108 | AANAT | c.340T>A (p.Ser114Thr) c.475T>A (p.Ser159Thr) c.454T>A c.*117T>A (n.*117T>A) n.651T>A c.547T>A (p.Ser183Thr) c.430T>A (p.Ser144Thr) c.454T>A (p.Ser152Thr) n.596T>A | |
| 17 | g.76469686T>C | CA401161107 | AANAT | c.340T>C (p.Ser114Pro) c.475T>C (p.Ser159Pro) c.454T>C c.*117T>C (n.*117T>C) n.651T>C c.547T>C (p.Ser183Pro) c.430T>C (p.Ser144Pro) c.454T>C (p.Ser152Pro) n.596T>C | gnomAD v4 |
| 17 | g.76469686T>G | CA401161106 | AANAT | c.340T>G (p.Ser114Ala) c.475T>G (p.Ser159Ala) c.454T>G c.*117T>G (n.*117T>G) n.651T>G c.547T>G (p.Ser183Ala) c.430T>G (p.Ser144Ala) c.454T>G (p.Ser152Ala) n.596T>G | |
| 17 | g.76469687C>A | CA401161109 | AANAT | c.341C>A (p.Ser114Tyr) c.476C>A (p.Ser159Tyr) c.455C>A c.*118C>A (n.*118C>A) n.652C>A c.548C>A (p.Ser183Tyr) c.431C>A (p.Ser144Tyr) c.455C>A (p.Ser152Tyr) n.597C>A | gnomAD v4 |
| 17 | g.76469687C= | CA2276011924 | AANAT | c.341C= (p.Ser114=) c.476C= (p.Ser159=) c.455C= c.*118C= (n.*118C=) n.652C= c.548C= (p.Ser183=) c.431C= (p.Ser144=) c.455C= (p.Ser152=) n.597C= | |
| 17 | g.76469687C>G | CA401161110 | AANAT | c.341C>G (p.Ser114Cys) c.476C>G (p.Ser159Cys) c.455C>G c.*118C>G (n.*118C>G) n.652C>G c.548C>G (p.Ser183Cys) c.431C>G (p.Ser144Cys) c.455C>G (p.Ser152Cys) n.597C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469687C>T | CA401161111 | AANAT | c.341C>T (p.Ser114Phe) c.476C>T (p.Ser159Phe) c.455C>T c.*118C>T (n.*118C>T) n.652C>T c.548C>T (p.Ser183Phe) c.431C>T (p.Ser144Phe) c.455C>T (p.Ser152Phe) n.597C>T | gnomAD v4 |
| 17 | g.76469688T>A | CA502066545 | AANAT | c.342T>A (p.Ser114=) c.477T>A (p.Ser159=) c.*119T>A (n.*119T>A) n.653T>A c.549T>A (p.Ser183=) c.432T>A (p.Ser144=) c.456T>A (p.Ser152=) n.598T>A | |
| 17 | g.76469688T>C | CA502066547 | AANAT | c.342T>C (p.Ser114=) c.477T>C (p.Ser159=) c.*119T>C (n.*119T>C) n.653T>C c.549T>C (p.Ser183=) c.432T>C (p.Ser144=) c.456T>C (p.Ser152=) n.598T>C | gnomAD v4 |
| 17 | g.76469688T>G | CA502066546 | AANAT | c.342T>G (p.Ser114=) c.477T>G (p.Ser159=) c.*119T>G (n.*119T>G) n.653T>G c.549T>G (p.Ser183=) c.432T>G (p.Ser144=) c.456T>G (p.Ser152=) n.598T>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469688T= | CA2276011925 | AANAT | c.342T= (p.Ser114=) c.477T= (p.Ser159=) c.*119T= (n.*119T=) n.653T= c.549T= (p.Ser183=) c.432T= (p.Ser144=) c.456T= (p.Ser152=) n.598T= | |
| 17 | g.76469689G>A | CA401161112 | AANAT | c.343G>A (p.Gly115Arg) c.478G>A (p.Gly160Arg) c.*120G>A (n.*120G>A) n.654G>A c.550G>A (p.Gly184Arg) c.433G>A (p.Gly145Arg) c.457G>A (p.Gly153Arg) n.599G>A | dbSNP gnomAD v4 |
| 17 | g.76469689G>C | CA401161113 | AANAT | c.343G>C (p.Gly115Arg) c.478G>C (p.Gly160Arg) c.*120G>C (n.*120G>C) n.654G>C c.550G>C (p.Gly184Arg) c.433G>C (p.Gly145Arg) c.457G>C (p.Gly153Arg) n.599G>C | |
| 17 | g.76469689G= | CA2276011926 | AANAT | c.343G= (p.Gly115=) c.478G= (p.Gly160=) c.*120G= (n.*120G=) n.654G= c.550G= (p.Gly184=) c.433G= (p.Gly145=) c.457G= (p.Gly153=) n.599G= | |
| 17 | g.76469689G>T | CA401161114 | AANAT | c.343G>T (p.Gly115Trp) c.478G>T (p.Gly160Trp) c.*120G>T (n.*120G>T) n.654G>T c.550G>T (p.Gly184Trp) c.433G>T (p.Gly145Trp) c.457G>T (p.Gly153Trp) n.599G>T | gnomAD v4 |
| 17 | g.76469693dup | CA2639996429 | AANAT | c.347dup (p.His117ProfsTer?) c.482dup (p.His162ProfsTer?) c.*124dup (n.*124dup) n.658dup c.554dup (p.His186ProfsTer?) c.437dup (p.His147ProfsTer?) c.461dup (p.His155ProfsTer?) n.603dup | gnomAD v4 |
| 17 | g.76469693del | CA2576500105 | AANAT | c.347del (p.Gly116AlafsTer3) c.482del (p.Gly161AlafsTer3) c.*124del (n.*124del) n.658del c.554del (p.Gly185AlafsTer3) c.437del (p.Gly146AlafsTer3) c.461del (p.Gly154AlafsTer3) n.603del | gnomAD v4 |
| 17 | g.76469690G>A | CA401161115 | AANAT | c.344G>A (p.Gly115Glu) c.479G>A (p.Gly160Glu) c.*121G>A (n.*121G>A) n.655G>A c.551G>A (p.Gly184Glu) c.434G>A (p.Gly145Glu) c.458G>A (p.Gly153Glu) n.600G>A | dbSNP gnomAD v4 |
| 17 | g.76469690G>C | CA401161117 | AANAT | c.344G>C (p.Gly115Ala) c.479G>C (p.Gly160Ala) c.*121G>C (n.*121G>C) n.655G>C c.551G>C (p.Gly184Ala) c.434G>C (p.Gly145Ala) c.458G>C (p.Gly153Ala) n.600G>C | |
| 17 | g.76469690G= | CA2276011927 | AANAT | c.344G= (p.Gly115=) c.479G= (p.Gly160=) c.*121G= (n.*121G=) n.655G= c.551G= (p.Gly184=) c.434G= (p.Gly145=) c.458G= (p.Gly153=) n.600G= | |
| 17 | g.76469690G>T | CA401161116 | AANAT | c.344G>T (p.Gly115Val) c.479G>T (p.Gly160Val) c.*121G>T (n.*121G>T) n.655G>T c.551G>T (p.Gly184Val) c.434G>T (p.Gly145Val) c.458G>T (p.Gly153Val) n.600G>T | gnomAD v4 |
| 17 | g.76469691G>A | CA502066548 | AANAT | c.345G>A (p.Gly115=) c.480G>A (p.Gly160=) c.*122G>A (n.*122G>A) n.656G>A c.552G>A (p.Gly184=) c.435G>A (p.Gly145=) c.459G>A (p.Gly153=) n.601G>A | gnomAD v4 COSMIC COSMIC |
| 17 | g.76469691G>C | CA502066549 | AANAT | c.345G>C (p.Gly115=) c.480G>C (p.Gly160=) c.*122G>C (n.*122G>C) n.656G>C c.552G>C (p.Gly184=) c.435G>C (p.Gly145=) c.459G>C (p.Gly153=) n.601G>C | |
| 17 | g.76469691G>T | CA502066550 | AANAT | c.345G>T (p.Gly115=) c.480G>T (p.Gly160=) c.*122G>T (n.*122G>T) n.656G>T c.552G>T (p.Gly184=) c.435G>T (p.Gly145=) c.459G>T (p.Gly153=) n.601G>T | gnomAD v4 |
| 17 | g.76469692G>A | CA401161118 | AANAT | c.346G>A (p.Gly116Ser) c.481G>A (p.Gly161Ser) c.*123G>A (n.*123G>A) n.657G>A c.553G>A (p.Gly185Ser) c.436G>A (p.Gly146Ser) c.460G>A (p.Gly154Ser) n.602G>A | gnomAD v4 |
| 17 | g.76469692G>C | CA401161119 | AANAT | c.346G>C (p.Gly116Arg) c.481G>C (p.Gly161Arg) c.*123G>C (n.*123G>C) n.657G>C c.553G>C (p.Gly185Arg) c.436G>C (p.Gly146Arg) c.460G>C (p.Gly154Arg) n.602G>C | |
| 17 | g.76469692G>T | CA401161120 | AANAT | c.346G>T (p.Gly116Cys) c.481G>T (p.Gly161Cys) c.*123G>T (n.*123G>T) n.657G>T c.553G>T (p.Gly185Cys) c.436G>T (p.Gly146Cys) c.460G>T (p.Gly154Cys) n.602G>T | gnomAD v4 |
| 17 | g.76469693G>A | CA401161121 | AANAT | c.347G>A (p.Gly116Asp) c.482G>A (p.Gly161Asp) c.*124G>A (n.*124G>A) n.658G>A c.554G>A (p.Gly185Asp) c.437G>A (p.Gly146Asp) c.461G>A (p.Gly154Asp) n.603G>A | gnomAD v4 |
| 17 | g.76469693G>C | CA401161122 | AANAT | c.347G>C (p.Gly116Ala) c.482G>C (p.Gly161Ala) c.*124G>C (n.*124G>C) n.658G>C c.554G>C (p.Gly185Ala) c.437G>C (p.Gly146Ala) c.461G>C (p.Gly154Ala) n.603G>C | |
| 17 | g.76469693G>T | CA401161123 | AANAT | c.347G>T (p.Gly116Val) c.482G>T (p.Gly161Val) c.*124G>T (n.*124G>T) n.658G>T c.554G>T (p.Gly185Val) c.437G>T (p.Gly146Val) c.461G>T (p.Gly154Val) n.603G>T | gnomAD v4 |
| 17 | g.76469694C>A | CA502066554 | AANAT | c.348C>A (p.Gly116=) c.483C>A (p.Gly161=) c.*125C>A (n.*125C>A) n.659C>A c.555C>A (p.Gly185=) c.438C>A (p.Gly146=) c.462C>A (p.Gly154=) n.604C>A | gnomAD v4 |
| 17 | g.76469694C>G | CA502066555 | AANAT | c.348C>G (p.Gly116=) c.483C>G (p.Gly161=) c.*125C>G (n.*125C>G) n.659C>G c.555C>G (p.Gly185=) c.438C>G (p.Gly146=) c.462C>G (p.Gly154=) n.604C>G | |
| 17 | g.76469694C>T | CA502066556 | AANAT | c.348C>T (p.Gly116=) c.483C>T (p.Gly161=) c.*125C>T (n.*125C>T) n.659C>T c.555C>T (p.Gly185=) c.438C>T (p.Gly146=) c.462C>T (p.Gly154=) n.604C>T | gnomAD v4 |
| 17 | g.76469695C>A | CA401161126 | AANAT | c.349C>A (p.His117Asn) c.484C>A (p.His162Asn) c.*126C>A (n.*126C>A) n.660C>A c.556C>A (p.His186Asn) c.439C>A (p.His147Asn) c.463C>A (p.His155Asn) n.605C>A | gnomAD v4 |
| 17 | g.76469695C>G | CA401161124 | AANAT | c.349C>G (p.His117Asp) c.484C>G (p.His162Asp) c.*126C>G (n.*126C>G) n.660C>G c.556C>G (p.His186Asp) c.439C>G (p.His147Asp) c.463C>G (p.His155Asp) n.605C>G | |
| 17 | g.76469695C>T | CA401161125 | AANAT | c.349C>T (p.His117Tyr) c.484C>T (p.His162Tyr) c.*126C>T (n.*126C>T) n.660C>T c.556C>T (p.His186Tyr) c.439C>T (p.His147Tyr) c.463C>T (p.His155Tyr) n.605C>T | gnomAD v4 |
| 17 | g.76469696A>C | CA401161127 | AANAT | c.350A>C (p.His117Pro) c.485A>C (p.His162Pro) c.*127A>C (n.*127A>C) n.661A>C c.557A>C (p.His186Pro) c.440A>C (p.His147Pro) c.464A>C (p.His155Pro) n.606A>C | |
| 17 | g.76469696A>G | CA401161128 | AANAT | c.350A>G (p.His117Arg) c.485A>G (p.His162Arg) c.*127A>G (n.*127A>G) n.661A>G c.557A>G (p.His186Arg) c.440A>G (p.His147Arg) c.464A>G (p.His155Arg) n.606A>G | gnomAD v4 |
| 17 | g.76469696A>T | CA401161129 | AANAT | c.350A>T (p.His117Leu) c.485A>T (p.His162Leu) c.*127A>T (n.*127A>T) n.661A>T c.557A>T (p.His186Leu) c.440A>T (p.His147Leu) c.464A>T (p.His155Leu) n.606A>T | gnomAD v4 |
| 17 | g.76469697C>A | CA401161130 | AANAT | c.351C>A (p.His117Gln) c.486C>A (p.His162Gln) c.*128C>A (n.*128C>A) n.662C>A c.558C>A (p.His186Gln) c.441C>A (p.His147Gln) c.465C>A (p.His155Gln) n.607C>A | gnomAD v4 |
| 17 | g.76469697C>G | CA401161131 | AANAT | c.351C>G (p.His117Gln) c.486C>G (p.His162Gln) c.*128C>G (n.*128C>G) n.662C>G c.558C>G (p.His186Gln) c.441C>G (p.His147Gln) c.465C>G (p.His155Gln) n.607C>G | |
| 17 | g.76469697C>T | CA502066565 | AANAT | c.351C>T (p.His117=) c.486C>T (p.His162=) c.*128C>T (n.*128C>T) n.662C>T c.558C>T (p.His186=) c.441C>T (p.His147=) c.465C>T (p.His155=) n.607C>T | gnomAD v4 |
| 17 | g.76469698A= | CA2276011928 | AANAT | c.352A= (p.Ile118=) c.487A= (p.Ile163=) c.*129A= (n.*129A=) n.663A= c.559A= (p.Ile187=) c.442A= (p.Ile148=) c.466A= (p.Ile156=) n.608A= | |
| 17 | g.76469698A>C | CA401161132 | AANAT | c.352A>C (p.Ile118Leu) c.487A>C (p.Ile163Leu) c.*129A>C (n.*129A>C) n.663A>C c.559A>C (p.Ile187Leu) c.442A>C (p.Ile148Leu) c.466A>C (p.Ile156Leu) n.608A>C | |
| 17 | g.76469698A>G | CA401161134 | AANAT | c.352A>G (p.Ile118Val) c.487A>G (p.Ile163Val) c.*129A>G (n.*129A>G) n.663A>G c.559A>G (p.Ile187Val) c.442A>G (p.Ile148Val) c.466A>G (p.Ile156Val) n.608A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469698A>T | CA401161133 | AANAT | c.352A>T (p.Ile118Leu) c.487A>T (p.Ile163Leu) c.*129A>T (n.*129A>T) n.663A>T c.559A>T (p.Ile187Leu) c.442A>T (p.Ile148Leu) c.466A>T (p.Ile156Leu) n.608A>T | gnomAD v4 |
| 17 | g.76469699T>A | CA401161135 | AANAT | c.353T>A (p.Ile118Lys) c.488T>A (p.Ile163Lys) c.*130T>A (n.*130T>A) n.664T>A c.560T>A (p.Ile187Lys) c.443T>A (p.Ile148Lys) c.467T>A (p.Ile156Lys) n.609T>A | |
| 17 | g.76469699T>C | CA8786572 | AANAT | c.353T>C (p.Ile118Thr) c.488T>C (p.Ile163Thr) c.*130T>C (n.*130T>C) n.664T>C c.560T>C (p.Ile187Thr) c.443T>C (p.Ile148Thr) c.467T>C (p.Ile156Thr) n.609T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469699T>G | CA401161136 | AANAT | c.353T>G (p.Ile118Arg) c.488T>G (p.Ile163Arg) c.*130T>G (n.*130T>G) n.664T>G c.560T>G (p.Ile187Arg) c.443T>G (p.Ile148Arg) c.467T>G (p.Ile156Arg) n.609T>G | |
| 17 | g.76469699T= | CA2276011929 | AANAT | c.353T= (p.Ile118=) c.488T= (p.Ile163=) c.*130T= (n.*130T=) n.664T= c.560T= (p.Ile187=) c.443T= (p.Ile148=) c.467T= (p.Ile156=) n.609T= | |
| 17 | g.76469700A= | CA2276011931 | AANAT | c.354A= (p.Ile118=) c.489A= (p.Ile163=) c.*131A= (n.*131A=) n.665A= c.561A= (p.Ile187=) c.444A= (p.Ile148=) c.468A= (p.Ile156=) n.610A= | |
| 17 | g.76469700A>C | CA502066567 | AANAT | c.354A>C (p.Ile118=) c.489A>C (p.Ile163=) c.*131A>C (n.*131A>C) n.665A>C c.561A>C (p.Ile187=) c.444A>C (p.Ile148=) c.468A>C (p.Ile156=) n.610A>C | |
| 17 | g.76469700A>G | CA8786573 | AANAT | c.354A>G (p.Ile118Met) c.489A>G (p.Ile163Met) c.*131A>G (n.*131A>G) n.665A>G c.561A>G (p.Ile187Met) c.444A>G (p.Ile148Met) c.468A>G (p.Ile156Met) n.610A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469700A>T | CA502066568 | AANAT | c.354A>T (p.Ile118=) c.489A>T (p.Ile163=) c.*131A>T (n.*131A>T) n.665A>T c.561A>T (p.Ile187=) c.444A>T (p.Ile148=) c.468A>T (p.Ile156=) n.610A>T | |
| 17 | g.76469700_76469701delinsAG | CA2276011930 | AANAT | c.354_355delinsAG (p.Ile118=) c.489_490delinsAG (p.Ile163=) c.*131_*132delinsAG (n.*131_*132delinsAG) n.665_666delinsAG c.561_562delinsAG (p.Ile187=) c.444_445delinsAG (p.Ile148=) c.468_469delinsAG (p.Ile156=) n.610_611delinsAG | |
| 17 | g.76469701del | CA8786574 | AANAT | c.355del (p.Ala119ProfsTer?) c.490del (p.Ala164ProfsTer?) c.*132del (n.*132del) n.666del c.562del (p.Ala188ProfsTer?) c.445del (p.Ala149ProfsTer?) c.469del (p.Ala157ProfsTer?) n.611del | dbSNP ExAC gnomAD v2 |
| 17 | g.76469701G>A | CA401161137 | AANAT | c.355G>A (p.Ala119Thr) c.490G>A (p.Ala164Thr) c.*132G>A (n.*132G>A) n.666G>A c.562G>A (p.Ala188Thr) c.445G>A (p.Ala149Thr) c.469G>A (p.Ala157Thr) n.611G>A | gnomAD v4 |
| 17 | g.76469701G>C | CA401161138 | AANAT | c.355G>C (p.Ala119Pro) c.490G>C (p.Ala164Pro) c.*132G>C (n.*132G>C) n.666G>C c.562G>C (p.Ala188Pro) c.445G>C (p.Ala149Pro) c.469G>C (p.Ala157Pro) n.611G>C | gnomAD v4 |
| 17 | g.76469701G>T | CA401161139 | AANAT | c.355G>T (p.Ala119Ser) c.490G>T (p.Ala164Ser) c.*132G>T (n.*132G>T) n.666G>T c.562G>T (p.Ala188Ser) c.445G>T (p.Ala149Ser) c.469G>T (p.Ala157Ser) n.611G>T | gnomAD v4 |
| 17 | g.76469702C>A | CA401161140 | AANAT | c.356C>A (p.Ala119Asp) c.491C>A (p.Ala164Asp) c.*133C>A (n.*133C>A) n.667C>A c.563C>A (p.Ala188Asp) c.446C>A (p.Ala149Asp) c.470C>A (p.Ala157Asp) n.612C>A | gnomAD v4 |
| 17 | g.76469702C>G | CA401161141 | AANAT | c.356C>G (p.Ala119Gly) c.491C>G (p.Ala164Gly) c.*133C>G (n.*133C>G) n.667C>G c.563C>G (p.Ala188Gly) c.446C>G (p.Ala149Gly) c.470C>G (p.Ala157Gly) n.612C>G | gnomAD v4 |
| 17 | g.76469702C>T | CA401161142 | AANAT | c.356C>T (p.Ala119Val) c.491C>T (p.Ala164Val) c.*133C>T (n.*133C>T) n.667C>T c.563C>T (p.Ala188Val) c.446C>T (p.Ala149Val) c.470C>T (p.Ala157Val) n.612C>T | gnomAD v4 |
| 17 | g.76469704del | CA2639996471 | AANAT | c.358del (p.His120ThrfsTer?) c.493del (p.His165ThrfsTer?) c.*135del (n.*135del) n.669del c.565del (p.His189ThrfsTer?) c.448del (p.His150ThrfsTer?) c.472del (p.His158ThrfsTer?) n.614del | gnomAD v4 |
| 17 | g.76469703C>A | CA502066578 | AANAT | c.357C>A (p.Ala119=) c.492C>A (p.Ala164=) c.*134C>A (n.*134C>A) n.668C>A c.564C>A (p.Ala188=) c.447C>A (p.Ala149=) c.471C>A (p.Ala157=) n.613C>A | gnomAD v4 |
| 17 | g.76469703C= | CA2276011932 | AANAT | c.357C= (p.Ala119=) c.492C= (p.Ala164=) c.*134C= (n.*134C=) n.668C= c.564C= (p.Ala188=) c.447C= (p.Ala149=) c.471C= (p.Ala157=) n.613C= | |
| 17 | g.76469703C>G | CA502066579 | AANAT | c.357C>G (p.Ala119=) c.492C>G (p.Ala164=) c.*134C>G (n.*134C>G) n.668C>G c.564C>G (p.Ala188=) c.447C>G (p.Ala149=) c.471C>G (p.Ala157=) n.613C>G | |
| 17 | g.76469703C>T | CA502066580 | AANAT | c.357C>T (p.Ala119=) c.492C>T (p.Ala164=) c.*134C>T (n.*134C>T) n.668C>T c.564C>T (p.Ala188=) c.447C>T (p.Ala149=) c.471C>T (p.Ala157=) n.613C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469704C>A | CA401161143 | AANAT | c.358C>A (p.His120Asn) c.493C>A (p.His165Asn) c.*135C>A (n.*135C>A) n.669C>A c.565C>A (p.His189Asn) c.448C>A (p.His150Asn) c.472C>A (p.His158Asn) n.614C>A | gnomAD v4 |
| 17 | g.76469704C= | CA2276011933 | AANAT | c.358C= (p.His120=) c.493C= (p.His165=) c.*135C= (n.*135C=) n.669C= c.565C= (p.His189=) c.448C= (p.His150=) c.472C= (p.His158=) n.614C= | |
| 17 | g.76469704C>G | CA401161145 | AANAT | c.358C>G (p.His120Asp) c.493C>G (p.His165Asp) c.*135C>G (n.*135C>G) n.669C>G c.565C>G (p.His189Asp) c.448C>G (p.His150Asp) c.472C>G (p.His158Asp) n.614C>G | |
| 17 | g.76469704C>T | CA401161144 | AANAT | c.358C>T (p.His120Tyr) c.493C>T (p.His165Tyr) c.*135C>T (n.*135C>T) n.669C>T c.565C>T (p.His189Tyr) c.448C>T (p.His150Tyr) c.472C>T (p.His158Tyr) n.614C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469705A= | CA2276011934 | AANAT | c.359A= (p.His120=) c.494A= (p.His165=) c.*136A= (n.*136A=) n.670A= c.566A= (p.His189=) c.449A= (p.His150=) c.473A= (p.His158=) n.615A= | |
| 17 | g.76469705A>C | CA401161146 | AANAT | c.359A>C (p.His120Pro) c.494A>C (p.His165Pro) c.*136A>C (n.*136A>C) n.670A>C c.566A>C (p.His189Pro) c.449A>C (p.His150Pro) c.473A>C (p.His158Pro) n.615A>C | |
| 17 | g.76469705A>G | CA8786575 | AANAT | c.359A>G (p.His120Arg) c.494A>G (p.His165Arg) c.*136A>G (n.*136A>G) n.670A>G c.566A>G (p.His189Arg) c.449A>G (p.His150Arg) c.473A>G (p.His158Arg) n.615A>G | dbSNP ExAC gnomAD v4 |
| 17 | g.76469705A>T | CA401161147 | AANAT | c.359A>T (p.His120Leu) c.494A>T (p.His165Leu) c.*136A>T (n.*136A>T) n.670A>T c.566A>T (p.His189Leu) c.449A>T (p.His150Leu) c.473A>T (p.His158Leu) n.615A>T | gnomAD v4 |
| 17 | g.76469706C>A | CA401161148 | AANAT | c.360C>A (p.His120Gln) c.495C>A (p.His165Gln) c.*137C>A (n.*137C>A) n.671C>A c.567C>A (p.His189Gln) c.450C>A (p.His150Gln) c.474C>A (p.His158Gln) n.616C>A | gnomAD v4 |
| 17 | g.76469706C= | CA2276011935 | AANAT | c.360C= (p.His120=) c.495C= (p.His165=) c.*137C= (n.*137C=) n.671C= c.567C= (p.His189=) c.450C= (p.His150=) c.474C= (p.His158=) n.616C= | |
| 17 | g.76469706C>G | CA401161149 | AANAT | c.360C>G (p.His120Gln) c.495C>G (p.His165Gln) c.*137C>G (n.*137C>G) n.671C>G c.567C>G (p.His189Gln) c.450C>G (p.His150Gln) c.474C>G (p.His158Gln) n.616C>G | |
| 17 | g.76469706C>T | CA502066589 | AANAT | c.360C>T (p.His120=) c.495C>T (p.His165=) c.*137C>T (n.*137C>T) n.671C>T c.567C>T (p.His189=) c.450C>T (p.His150=) c.474C>T (p.His158=) n.616C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469707C>A | CA401161150 | AANAT | c.361C>A (p.Leu121Met) c.496C>A (p.Leu166Met) c.*138C>A (n.*138C>A) n.672C>A c.568C>A (p.Leu190Met) c.451C>A (p.Leu151Met) c.475C>A (p.Leu159Met) n.617C>A | gnomAD v4 |
| 17 | g.76469707C= | CA2276011937 | AANAT | c.361C= (p.Leu121=) c.496C= (p.Leu166=) c.*138C= (n.*138C=) n.672C= c.568C= (p.Leu190=) c.451C= (p.Leu151=) c.475C= (p.Leu159=) n.617C= | |
| 17 | g.76469707C>G | CA401161151 | AANAT | c.361C>G (p.Leu121Val) c.496C>G (p.Leu166Val) c.*138C>G (n.*138C>G) n.672C>G c.568C>G (p.Leu190Val) c.451C>G (p.Leu151Val) c.475C>G (p.Leu159Val) n.617C>G | |
| 17 | g.76469707C>T | CA502066591 | AANAT | c.361C>T (p.Leu121=) c.496C>T (p.Leu166=) c.*138C>T (n.*138C>T) n.672C>T c.568C>T (p.Leu190=) c.451C>T (p.Leu151=) c.475C>T (p.Leu159=) n.617C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469708_76469710dup | CA2276011936 | AANAT | c.362_364dup (p.Leu121_His122insLeu) c.497_499dup (p.Leu166_His167insLeu) c.*139_*141dup (n.*139_*141dup) n.673_675dup c.569_571dup (p.Leu190_His191insLeu) c.452_454dup (p.Leu151_His152insLeu) c.476_478dup (p.Leu159_His160insLeu) n.618_620dup | dbSNP |
| 17 | g.76469708T>A | CA401161152 | AANAT | c.362T>A (p.Leu121Gln) c.497T>A (p.Leu166Gln) c.*139T>A (n.*139T>A) n.673T>A c.569T>A (p.Leu190Gln) c.452T>A (p.Leu151Gln) c.476T>A (p.Leu159Gln) n.618T>A | gnomAD v4 |
| 17 | g.76469708T>C | CA294178155 | AANAT | c.362T>C (p.Leu121Pro) c.497T>C (p.Leu166Pro) c.*139T>C (n.*139T>C) n.673T>C c.569T>C (p.Leu190Pro) c.452T>C (p.Leu151Pro) c.476T>C (p.Leu159Pro) n.618T>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469708T>G | CA401161153 | AANAT | c.362T>G (p.Leu121Arg) c.497T>G (p.Leu166Arg) c.*139T>G (n.*139T>G) n.673T>G c.569T>G (p.Leu190Arg) c.452T>G (p.Leu151Arg) c.476T>G (p.Leu159Arg) n.618T>G | |
| 17 | g.76469708T= | CA2276011938 | AANAT | c.362T= (p.Leu121=) c.497T= (p.Leu166=) c.*139T= (n.*139T=) n.673T= c.569T= (p.Leu190=) c.452T= (p.Leu151=) c.476T= (p.Leu159=) n.618T= | |
| 17 | g.76469709G>A | CA502066592 | AANAT | c.363G>A (p.Leu121=) c.498G>A (p.Leu166=) c.*140G>A (n.*140G>A) n.674G>A c.570G>A (p.Leu190=) c.453G>A (p.Leu151=) c.477G>A (p.Leu159=) n.619G>A | gnomAD v4 |
| 17 | g.76469709G>C | CA502066593 | AANAT | c.363G>C (p.Leu121=) c.498G>C (p.Leu166=) c.*140G>C (n.*140G>C) n.674G>C c.570G>C (p.Leu190=) c.453G>C (p.Leu151=) c.477G>C (p.Leu159=) n.619G>C | gnomAD v4 |
| 17 | g.76469709G>T | CA502066595 | AANAT | c.363G>T (p.Leu121=) c.498G>T (p.Leu166=) c.*140G>T (n.*140G>T) n.674G>T c.570G>T (p.Leu190=) c.453G>T (p.Leu151=) c.477G>T (p.Leu159=) n.619G>T | gnomAD v4 |
| 17 | g.76469710C>A | CA401161154 | AANAT | c.364C>A (p.His122Asn) c.499C>A (p.His167Asn) c.*141C>A (n.*141C>A) n.675C>A c.571C>A (p.His191Asn) c.454C>A (p.His152Asn) c.478C>A (p.His160Asn) n.620C>A | gnomAD v4 |
| 17 | g.76469710C= | CA2276011939 | AANAT | c.364C= (p.His122=) c.499C= (p.His167=) c.*141C= (n.*141C=) n.675C= c.571C= (p.His191=) c.454C= (p.His152=) c.478C= (p.His160=) n.620C= | |
| 17 | g.76469710C>G | CA401161155 | AANAT | c.364C>G (p.His122Asp) c.499C>G (p.His167Asp) c.*141C>G (n.*141C>G) n.675C>G c.571C>G (p.His191Asp) c.454C>G (p.His152Asp) c.478C>G (p.His160Asp) n.620C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469710C>T | CA401161156 | AANAT | c.364C>T (p.His122Tyr) c.499C>T (p.His167Tyr) c.*141C>T (n.*141C>T) n.675C>T c.571C>T (p.His191Tyr) c.454C>T (p.His152Tyr) c.478C>T (p.His160Tyr) n.620C>T | gnomAD v4 |
| 17 | g.76469711A= | CA2276011940 | AANAT | c.365A= (p.His122=) c.500A= (p.His167=) c.*142A= (n.*142A=) n.676A= c.572A= (p.His191=) c.455A= (p.His152=) c.479A= (p.His160=) n.621A= | |
| 17 | g.76469711A>C | CA401161158 | AANAT | c.365A>C (p.His122Pro) c.500A>C (p.His167Pro) c.*142A>C (n.*142A>C) n.676A>C c.572A>C (p.His191Pro) c.455A>C (p.His152Pro) c.479A>C (p.His160Pro) n.621A>C | |
| 17 | g.76469711A>G | CA8786576 | AANAT | c.365A>G (p.His122Arg) c.500A>G (p.His167Arg) c.*142A>G (n.*142A>G) n.676A>G c.572A>G (p.His191Arg) c.455A>G (p.His152Arg) c.479A>G (p.His160Arg) n.621A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469711A>T | CA401161157 | AANAT | c.365A>T (p.His122Leu) c.500A>T (p.His167Leu) c.*142A>T (n.*142A>T) n.676A>T c.572A>T (p.His191Leu) c.455A>T (p.His152Leu) c.479A>T (p.His160Leu) n.621A>T | |
| 17 | g.76469712T>A | CA401161159 | AANAT | c.366T>A (p.His122Gln) c.501T>A (p.His167Gln) c.*143T>A (n.*143T>A) n.677T>A c.573T>A (p.His191Gln) c.456T>A (p.His152Gln) c.480T>A (p.His160Gln) n.622T>A | gnomAD v4 |
| 17 | g.76469712T>C | CA8786577 | AANAT | c.366T>C (p.His122=) c.501T>C (p.His167=) c.*143T>C (n.*143T>C) n.677T>C c.573T>C (p.His191=) c.456T>C (p.His152=) c.480T>C (p.His160=) n.622T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469712T>G | CA401161160 | AANAT | c.366T>G (p.His122Gln) c.501T>G (p.His167Gln) c.*143T>G (n.*143T>G) n.677T>G c.573T>G (p.His191Gln) c.456T>G (p.His152Gln) c.480T>G (p.His160Gln) n.622T>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469712T= | CA2276011941 | AANAT | c.366T= (p.His122=) c.501T= (p.His167=) c.*143T= (n.*143T=) n.677T= c.573T= (p.His191=) c.456T= (p.His152=) c.480T= (p.His160=) n.622T= | |
| 17 | g.76469713G>A | CA401161161 | AANAT | c.367G>A (p.Val123Met) c.502G>A (p.Val168Met) c.*144G>A (n.*144G>A) n.678G>A c.574G>A (p.Val192Met) c.457G>A (p.Val153Met) c.481G>A (p.Val161Met) n.623G>A | dbSNP gnomAD v4 |
| 17 | g.76469713G>C | CA401161162 | AANAT | c.367G>C (p.Val123Leu) c.502G>C (p.Val168Leu) c.*144G>C (n.*144G>C) n.678G>C c.574G>C (p.Val192Leu) c.457G>C (p.Val153Leu) c.481G>C (p.Val161Leu) n.623G>C | |
| 17 | g.76469713G= | CA2276011942 | AANAT | c.367G= (p.Val123=) c.502G= (p.Val168=) c.*144G= (n.*144G=) n.678G= c.574G= (p.Val192=) c.457G= (p.Val153=) c.481G= (p.Val161=) n.623G= | |
| 17 | g.76469713G>T | CA401161163 | AANAT | c.367G>T (p.Val123Leu) c.502G>T (p.Val168Leu) c.*144G>T (n.*144G>T) n.678G>T c.574G>T (p.Val192Leu) c.457G>T (p.Val153Leu) c.481G>T (p.Val161Leu) n.623G>T | gnomAD v4 |
| 17 | g.76469714T>A | CA401161164 | AANAT | c.368T>A (p.Val123Glu) c.503T>A (p.Val168Glu) c.*145T>A (n.*145T>A) n.679T>A c.575T>A (p.Val192Glu) c.458T>A (p.Val153Glu) c.482T>A (p.Val161Glu) n.624T>A | |
| 17 | g.76469714T>C | CA401161165 | AANAT | c.368T>C (p.Val123Ala) c.503T>C (p.Val168Ala) c.*145T>C (n.*145T>C) n.679T>C c.575T>C (p.Val192Ala) c.458T>C (p.Val153Ala) c.482T>C (p.Val161Ala) n.624T>C | |
| 17 | g.76469714T>G | CA401161166 | AANAT | c.368T>G (p.Val123Gly) c.503T>G (p.Val168Gly) c.*145T>G (n.*145T>G) n.679T>G c.575T>G (p.Val192Gly) c.458T>G (p.Val153Gly) c.482T>G (p.Val161Gly) n.624T>G | |
| 17 | g.76469715G>A | CA502066603 | AANAT | c.369G>A (p.Val123=) c.504G>A (p.Val168=) c.*146G>A (n.*146G>A) n.680G>A c.576G>A (p.Val192=) c.459G>A (p.Val153=) c.483G>A (p.Val161=) n.625G>A | gnomAD v4 |
| 17 | g.76469715G>C | CA502066604 | AANAT | c.369G>C (p.Val123=) c.504G>C (p.Val168=) c.*146G>C (n.*146G>C) n.680G>C c.576G>C (p.Val192=) c.459G>C (p.Val153=) c.483G>C (p.Val161=) n.625G>C | gnomAD v4 |
| 17 | g.76469715G>T | CA502066605 | AANAT | c.369G>T (p.Val123=) c.504G>T (p.Val168=) c.*146G>T (n.*146G>T) n.680G>T c.576G>T (p.Val192=) c.459G>T (p.Val153=) c.483G>T (p.Val161=) n.625G>T | gnomAD v4 |
| 17 | g.76469716C>A | CA401161167 | AANAT | c.370C>A (p.Leu124Met) c.505C>A (p.Leu169Met) c.*147C>A (n.*147C>A) n.681C>A c.577C>A (p.Leu193Met) c.460C>A (p.Leu154Met) c.484C>A (p.Leu162Met) n.626C>A | gnomAD v4 |
| 17 | g.76469716C= | CA2276011943 | AANAT | c.370C= (p.Leu124=) c.505C= (p.Leu169=) c.*147C= (n.*147C=) n.681C= c.577C= (p.Leu193=) c.460C= (p.Leu154=) c.484C= (p.Leu162=) n.626C= | |
| 17 | g.76469716C>G | CA401161168 | AANAT | c.370C>G (p.Leu124Val) c.505C>G (p.Leu169Val) c.*147C>G (n.*147C>G) n.681C>G c.577C>G (p.Leu193Val) c.460C>G (p.Leu154Val) c.484C>G (p.Leu162Val) n.626C>G | dbSNP gnomAD v4 |
| 17 | g.76469716C>T | CA502066611 | AANAT | c.370C>T (p.Leu124=) c.505C>T (p.Leu169=) c.*147C>T (n.*147C>T) n.681C>T c.577C>T (p.Leu193=) c.460C>T (p.Leu154=) c.484C>T (p.Leu162=) n.626C>T | dbSNP gnomAD v4 |
| 17 | g.76469717T>A | CA401161170 | AANAT | c.371T>A (p.Leu124Gln) c.506T>A (p.Leu169Gln) c.*148T>A (n.*148T>A) n.682T>A c.578T>A (p.Leu193Gln) c.461T>A (p.Leu154Gln) c.485T>A (p.Leu162Gln) n.627T>A | |
| 17 | g.76469717T>C | CA401161171 | AANAT | c.371T>C (p.Leu124Pro) c.506T>C (p.Leu169Pro) c.*148T>C (n.*148T>C) n.682T>C c.578T>C (p.Leu193Pro) c.461T>C (p.Leu154Pro) c.485T>C (p.Leu162Pro) n.627T>C | dbSNP gnomAD v4 |
| 17 | g.76469717T>G | CA401161169 | AANAT | c.371T>G (p.Leu124Arg) c.506T>G (p.Leu169Arg) c.*148T>G (n.*148T>G) n.682T>G c.578T>G (p.Leu193Arg) c.461T>G (p.Leu154Arg) c.485T>G (p.Leu162Arg) n.627T>G | |
| 17 | g.76469717T= | CA2276011944 | AANAT | c.371T= (p.Leu124=) c.506T= (p.Leu169=) c.*148T= (n.*148T=) n.682T= c.578T= (p.Leu193=) c.461T= (p.Leu154=) c.485T= (p.Leu162=) n.627T= | |
| 17 | g.76469718G>A | CA502066613 | AANAT | c.372G>A (p.Leu124=) c.507G>A (p.Leu169=) c.*149G>A (n.*149G>A) n.683G>A c.579G>A (p.Leu193=) c.462G>A (p.Leu154=) c.486G>A (p.Leu162=) n.628G>A | gnomAD v4 |
| 17 | g.76469718G>C | CA502066614 | AANAT | c.372G>C (p.Leu124=) c.507G>C (p.Leu169=) c.*149G>C (n.*149G>C) n.683G>C c.579G>C (p.Leu193=) c.462G>C (p.Leu154=) c.486G>C (p.Leu162=) n.628G>C | |
| 17 | g.76469718G>T | CA502066615 | AANAT | c.372G>T (p.Leu124=) c.507G>T (p.Leu169=) c.*149G>T (n.*149G>T) n.683G>T c.579G>T (p.Leu193=) c.462G>T (p.Leu154=) c.486G>T (p.Leu162=) n.628G>T | gnomAD v4 |
| 17 | g.76469719G>A | CA401161172 | AANAT | c.373G>A (p.Ala125Thr) c.508G>A (p.Ala170Thr) c.*150G>A (n.*150G>A) n.684G>A c.580G>A (p.Ala194Thr) c.463G>A (p.Ala155Thr) c.487G>A (p.Ala163Thr) n.629G>A | gnomAD v4 |
| 17 | g.76469719G>C | CA401161173 | AANAT | c.373G>C (p.Ala125Pro) c.508G>C (p.Ala170Pro) c.*150G>C (n.*150G>C) n.684G>C c.580G>C (p.Ala194Pro) c.463G>C (p.Ala155Pro) c.487G>C (p.Ala163Pro) n.629G>C | |
| 17 | g.76469719G>T | CA401161174 | AANAT | c.373G>T (p.Ala125Ser) c.508G>T (p.Ala170Ser) c.*150G>T (n.*150G>T) n.684G>T c.580G>T (p.Ala194Ser) c.463G>T (p.Ala155Ser) c.487G>T (p.Ala163Ser) n.629G>T | gnomAD v4 |
| 17 | g.76469720C>A | CA401161175 | AANAT | c.374C>A (p.Ala125Asp) c.509C>A (p.Ala170Asp) c.*151C>A (n.*151C>A) n.685C>A c.581C>A (p.Ala194Asp) c.464C>A (p.Ala155Asp) c.488C>A (p.Ala163Asp) n.630C>A | gnomAD v4 |
| 17 | g.76469720C>G | CA401161176 | AANAT | c.374C>G (p.Ala125Gly) c.509C>G (p.Ala170Gly) c.*151C>G (n.*151C>G) n.685C>G c.581C>G (p.Ala194Gly) c.464C>G (p.Ala155Gly) c.488C>G (p.Ala163Gly) n.630C>G | |
| 17 | g.76469720C>T | CA401161177 | AANAT | c.374C>T (p.Ala125Val) c.509C>T (p.Ala170Val) c.*151C>T (n.*151C>T) n.685C>T c.581C>T (p.Ala194Val) c.464C>T (p.Ala155Val) c.488C>T (p.Ala163Val) n.630C>T | gnomAD v4 |
| 17 | g.76469721C>A | CA502066620 | AANAT | c.375C>A (p.Ala125=) c.510C>A (p.Ala170=) c.*152C>A (n.*152C>A) n.686C>A c.582C>A (p.Ala194=) c.465C>A (p.Ala155=) c.489C>A (p.Ala163=) n.631C>A | gnomAD v4 |
| 17 | g.76469721C= | CA2276011945 | AANAT | c.375C= (p.Ala125=) c.510C= (p.Ala170=) c.*152C= (n.*152C=) n.686C= c.582C= (p.Ala194=) c.465C= (p.Ala155=) c.489C= (p.Ala163=) n.631C= | |
| 17 | g.76469721C>G | CA502066621 | AANAT | c.375C>G (p.Ala125=) c.510C>G (p.Ala170=) c.*152C>G (n.*152C>G) n.686C>G c.582C>G (p.Ala194=) c.465C>G (p.Ala155=) c.489C>G (p.Ala163=) n.631C>G | |
| 17 | g.76469721C>T | CA8786578 | AANAT | c.375C>T (p.Ala125=) c.510C>T (p.Ala170=) c.*152C>T (n.*152C>T) n.686C>T c.582C>T (p.Ala194=) c.465C>T (p.Ala155=) c.489C>T (p.Ala163=) n.631C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469722G>A | CA8786579 | AANAT | c.376G>A (p.Val126Met) c.511G>A (p.Val171Met) c.*153G>A (n.*153G>A) n.687G>A c.583G>A (p.Val195Met) c.466G>A (p.Val156Met) c.490G>A (p.Val164Met) n.632G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.76469722G>C | CA401161179 | AANAT | c.376G>C (p.Val126Leu) c.511G>C (p.Val171Leu) c.*153G>C (n.*153G>C) n.687G>C c.583G>C (p.Val195Leu) c.466G>C (p.Val156Leu) c.490G>C (p.Val164Leu) n.632G>C | |
| 17 | g.76469722G= | CA2276011946 | AANAT | c.376G= (p.Val126=) c.511G= (p.Val171=) c.*153G= (n.*153G=) n.687G= c.583G= (p.Val195=) c.466G= (p.Val156=) c.490G= (p.Val164=) n.632G= | |
| 17 | g.76469722G>T | CA401161178 | AANAT | c.376G>T (p.Val126Leu) c.511G>T (p.Val171Leu) c.*153G>T (n.*153G>T) n.687G>T c.583G>T (p.Val195Leu) c.466G>T (p.Val156Leu) c.490G>T (p.Val164Leu) n.632G>T | gnomAD v4 |
| 17 | g.76469723T>A | CA401161180 | AANAT | c.377T>A (p.Val126Glu) c.512T>A (p.Val171Glu) c.*154T>A (n.*154T>A) n.688T>A c.584T>A (p.Val195Glu) c.467T>A (p.Val156Glu) c.491T>A (p.Val164Glu) n.633T>A | |
| 17 | g.76469723T>C | CA401161181 | AANAT | c.377T>C (p.Val126Ala) c.512T>C (p.Val171Ala) c.*154T>C (n.*154T>C) n.688T>C c.584T>C (p.Val195Ala) c.467T>C (p.Val156Ala) c.491T>C (p.Val164Ala) n.633T>C | gnomAD v4 |
| 17 | g.76469723T>G | CA401161182 | AANAT | c.377T>G (p.Val126Gly) c.512T>G (p.Val171Gly) c.*154T>G (n.*154T>G) n.688T>G c.584T>G (p.Val195Gly) c.467T>G (p.Val156Gly) c.491T>G (p.Val164Gly) n.633T>G | |
| 17 | g.76469724G>A | CA8786580 | AANAT | c.378G>A (p.Val126=) c.513G>A (p.Val171=) c.*155G>A (n.*155G>A) n.689G>A c.585G>A (p.Val195=) c.468G>A (p.Val156=) c.492G>A (p.Val164=) n.634G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469724G>C | CA502066624 | AANAT | c.378G>C (p.Val126=) c.513G>C (p.Val171=) c.*155G>C (n.*155G>C) n.689G>C c.585G>C (p.Val195=) c.468G>C (p.Val156=) c.492G>C (p.Val164=) n.634G>C | |
| 17 | g.76469724G= | CA2276011947 | AANAT | c.378G= (p.Val126=) c.513G= (p.Val171=) c.*155G= (n.*155G=) n.689G= c.585G= (p.Val195=) c.468G= (p.Val156=) c.492G= (p.Val164=) n.634G= | |
| 17 | g.76469724G>T | CA502066625 | AANAT | c.378G>T (p.Val126=) c.513G>T (p.Val171=) c.*155G>T (n.*155G>T) n.689G>T c.585G>T (p.Val195=) c.468G>T (p.Val156=) c.492G>T (p.Val164=) n.634G>T | gnomAD v4 |
| 17 | g.76469725C>A | CA401161183 | AANAT | c.379C>A (p.His127Asn) c.514C>A (p.His172Asn) c.*156C>A (n.*156C>A) n.690C>A c.586C>A (p.His196Asn) c.469C>A (p.His157Asn) c.493C>A (p.His165Asn) n.635C>A | gnomAD v4 |
| 17 | g.76469725C= | CA2276011948 | AANAT | c.379C= (p.His127=) c.514C= (p.His172=) c.*156C= (n.*156C=) n.690C= c.586C= (p.His196=) c.469C= (p.His157=) c.493C= (p.His165=) n.635C= | |
| 17 | g.76469725C>G | CA401161185 | AANAT | c.379C>G (p.His127Asp) c.514C>G (p.His172Asp) c.*156C>G (n.*156C>G) n.690C>G c.586C>G (p.His196Asp) c.469C>G (p.His157Asp) c.493C>G (p.His165Asp) n.635C>G | |
| 17 | g.76469725C>T | CA401161184 | AANAT | c.379C>T (p.His127Tyr) c.514C>T (p.His172Tyr) c.*156C>T (n.*156C>T) n.690C>T c.586C>T (p.His196Tyr) c.469C>T (p.His157Tyr) c.493C>T (p.His165Tyr) n.635C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469726A= | CA2276011949 | AANAT | c.380A= (p.His127=) c.515A= (p.His172=) c.*157A= (n.*157A=) n.691A= c.587A= (p.His196=) c.470A= (p.His157=) c.494A= (p.His165=) n.636A= | |
| 17 | g.76469726A>C | CA401161186 | AANAT | c.380A>C (p.His127Pro) c.515A>C (p.His172Pro) c.*157A>C (n.*157A>C) n.691A>C c.587A>C (p.His196Pro) c.470A>C (p.His157Pro) c.494A>C (p.His165Pro) n.636A>C | gnomAD v4 |
| 17 | g.76469726A>G | CA8786581 | AANAT | c.380A>G (p.His127Arg) c.515A>G (p.His172Arg) c.*157A>G (n.*157A>G) n.691A>G c.587A>G (p.His196Arg) c.470A>G (p.His157Arg) c.494A>G (p.His165Arg) n.636A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469726A>T | CA401161187 | AANAT | c.380A>T (p.His127Leu) c.515A>T (p.His172Leu) c.*157A>T (n.*157A>T) n.691A>T c.587A>T (p.His196Leu) c.470A>T (p.His157Leu) c.494A>T (p.His165Leu) n.636A>T | |
| 17 | g.76469727C>A | CA401161188 | AANAT | c.381C>A (p.His127Gln) c.516C>A (p.His172Gln) c.*158C>A (n.*158C>A) n.692C>A c.588C>A (p.His196Gln) c.471C>A (p.His157Gln) c.495C>A (p.His165Gln) n.637C>A | gnomAD v4 |
| 17 | g.76469727C= | CA2276011950 | AANAT | c.381C= (p.His127=) c.516C= (p.His172=) c.*158C= (n.*158C=) n.692C= c.588C= (p.His196=) c.471C= (p.His157=) c.495C= (p.His165=) n.637C= | |
| 17 | g.76469727C>G | CA401161189 | AANAT | c.381C>G (p.His127Gln) c.516C>G (p.His172Gln) c.*158C>G (n.*158C>G) n.692C>G c.588C>G (p.His196Gln) c.471C>G (p.His157Gln) c.495C>G (p.His165Gln) n.637C>G | |
| 17 | g.76469727C>T | CA294178164 | AANAT | c.381C>T (p.His127=) c.516C>T (p.His172=) c.*158C>T (n.*158C>T) n.692C>T c.588C>T (p.His196=) c.471C>T (p.His157=) c.495C>T (p.His165=) n.637C>T | dbSNP gnomAD v4 |
| 17 | g.76469728C>A | CA401161190 | AANAT | c.382C>A (p.Arg128Ser) c.517C>A (p.Arg173Ser) c.*159C>A (n.*159C>A) n.693C>A c.589C>A (p.Arg197Ser) c.472C>A (p.Arg158Ser) c.496C>A (p.Arg166Ser) n.638C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469728C= | CA2276011951 | AANAT | c.382C= (p.Arg128=) c.517C= (p.Arg173=) c.*159C= (n.*159C=) n.693C= c.589C= (p.Arg197=) c.472C= (p.Arg158=) c.496C= (p.Arg166=) n.638C= | |
| 17 | g.76469728C>G | CA401161191 | AANAT | c.382C>G (p.Arg128Gly) c.517C>G (p.Arg173Gly) c.*159C>G (n.*159C>G) n.693C>G c.589C>G (p.Arg197Gly) c.472C>G (p.Arg158Gly) c.496C>G (p.Arg166Gly) n.638C>G | gnomAD v4 |
| 17 | g.76469728C>T | CA8786582 | AANAT | c.382C>T (p.Arg128Cys) c.517C>T (p.Arg173Cys) c.*159C>T (n.*159C>T) n.693C>T c.589C>T (p.Arg197Cys) c.472C>T (p.Arg158Cys) c.496C>T (p.Arg166Cys) n.638C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469729G>A | CA8786583 | AANAT | c.383G>A (p.Arg128His) c.518G>A (p.Arg173His) c.*160G>A (n.*160G>A) n.694G>A c.590G>A (p.Arg197His) c.473G>A (p.Arg158His) c.497G>A (p.Arg166His) n.639G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469729G>C | CA401161192 | AANAT | c.383G>C (p.Arg128Pro) c.518G>C (p.Arg173Pro) c.*160G>C (n.*160G>C) n.694G>C c.590G>C (p.Arg197Pro) c.473G>C (p.Arg158Pro) c.497G>C (p.Arg166Pro) n.639G>C | dbSNP gnomAD v4 |
| 17 | g.76469729G= | CA2276011952 | AANAT | c.383G= (p.Arg128=) c.518G= (p.Arg173=) c.*160G= (n.*160G=) n.694G= c.590G= (p.Arg197=) c.473G= (p.Arg158=) c.497G= (p.Arg166=) n.639G= | |
| 17 | g.76469729G>T | CA401161193 | AANAT | c.383G>T (p.Arg128Leu) c.518G>T (p.Arg173Leu) c.*160G>T (n.*160G>T) n.694G>T c.590G>T (p.Arg197Leu) c.473G>T (p.Arg158Leu) c.497G>T (p.Arg166Leu) n.639G>T | gnomAD v4 |
| 17 | g.76469730C>A | CA502066630 | AANAT | c.384C>A (p.Arg128=) c.519C>A (p.Arg173=) c.*161C>A (n.*161C>A) n.695C>A c.591C>A (p.Arg197=) c.474C>A (p.Arg158=) c.498C>A (p.Arg166=) n.640C>A | gnomAD v4 |
| 17 | g.76469730C= | CA2276011953 | AANAT | c.384C= (p.Arg128=) c.519C= (p.Arg173=) c.*161C= (n.*161C=) n.695C= c.591C= (p.Arg197=) c.474C= (p.Arg158=) c.498C= (p.Arg166=) n.640C= | |
| 17 | g.76469730C>G | CA502066631 | AANAT | c.384C>G (p.Arg128=) c.519C>G (p.Arg173=) c.*161C>G (n.*161C>G) n.695C>G c.591C>G (p.Arg197=) c.474C>G (p.Arg158=) c.498C>G (p.Arg166=) n.640C>G | |
| 17 | g.76469730C>T | CA8786584 | AANAT | c.384C>T (p.Arg128=) c.519C>T (p.Arg173=) c.*161C>T (n.*161C>T) n.695C>T c.591C>T (p.Arg197=) c.474C>T (p.Arg158=) c.498C>T (p.Arg166=) n.640C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.76469731G>A | CA215123 | AANAT | c.385G>A (p.Ala129Thr) c.520G>A (p.Ala174Thr) c.*162G>A (n.*162G>A) n.696G>A c.592G>A (p.Ala198Thr) c.475G>A (p.Ala159Thr) c.499G>A (p.Ala167Thr) n.641G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469731G>C | CA401161195 | AANAT | c.385G>C (p.Ala129Pro) c.520G>C (p.Ala174Pro) c.*162G>C (n.*162G>C) n.696G>C c.592G>C (p.Ala198Pro) c.475G>C (p.Ala159Pro) c.499G>C (p.Ala167Pro) n.641G>C | dbSNP |
| 17 | g.76469731G= | CA2276011954 | AANAT | c.385G= (p.Ala129=) c.520G= (p.Ala174=) c.*162G= (n.*162G=) n.696G= c.592G= (p.Ala198=) c.475G= (p.Ala159=) c.499G= (p.Ala167=) n.641G= | |
| 17 | g.76469731G>T | CA401161194 | AANAT | c.385G>T (p.Ala129Ser) c.520G>T (p.Ala174Ser) c.*162G>T (n.*162G>T) n.696G>T c.592G>T (p.Ala198Ser) c.475G>T (p.Ala159Ser) c.499G>T (p.Ala167Ser) n.641G>T | gnomAD v4 |
| 17 | g.76469732C>A | CA401161196 | AANAT | c.386C>A (p.Ala129Asp) c.521C>A (p.Ala174Asp) c.*163C>A (n.*163C>A) n.697C>A c.593C>A (p.Ala198Asp) c.476C>A (p.Ala159Asp) c.500C>A (p.Ala167Asp) n.642C>A | gnomAD v4 |
| 17 | g.76469732C>G | CA401161198 | AANAT | c.386C>G (p.Ala129Gly) c.521C>G (p.Ala174Gly) c.*163C>G (n.*163C>G) n.697C>G c.593C>G (p.Ala198Gly) c.476C>G (p.Ala159Gly) c.500C>G (p.Ala167Gly) n.642C>G | |
| 17 | g.76469732C>T | CA401161197 | AANAT | c.386C>T (p.Ala129Val) c.521C>T (p.Ala174Val) c.*163C>T (n.*163C>T) n.697C>T c.593C>T (p.Ala198Val) c.476C>T (p.Ala159Val) c.500C>T (p.Ala167Val) n.642C>T | |
| 17 | g.76469733C>A | CA502066632 | AANAT | c.387C>A (p.Ala129=) c.522C>A (p.Ala174=) c.*164C>A (n.*164C>A) n.698C>A c.594C>A (p.Ala198=) c.477C>A (p.Ala159=) c.501C>A (p.Ala167=) n.643C>A | gnomAD v4 |
| 17 | g.76469733C>G | CA502066636 | AANAT | c.387C>G (p.Ala129=) c.522C>G (p.Ala174=) c.*164C>G (n.*164C>G) n.698C>G c.594C>G (p.Ala198=) c.477C>G (p.Ala159=) c.501C>G (p.Ala167=) n.643C>G | |
| 17 | g.76469733C>T | CA502066634 | AANAT | c.387C>T (p.Ala129=) c.522C>T (p.Ala174=) c.*164C>T (n.*164C>T) n.698C>T c.594C>T (p.Ala198=) c.477C>T (p.Ala159=) c.501C>T (p.Ala167=) n.643C>T | gnomAD v4 |
| 17 | g.76469734T>A | CA401161199 | AANAT | c.388T>A (p.Phe130Ile) c.523T>A (p.Phe175Ile) c.*165T>A (n.*165T>A) n.699T>A c.595T>A (p.Phe199Ile) c.478T>A (p.Phe160Ile) c.502T>A (p.Phe168Ile) n.644T>A | gnomAD v4 |
| 17 | g.76469734T>C | CA401161201 | AANAT | c.388T>C (p.Phe130Leu) c.523T>C (p.Phe175Leu) c.*165T>C (n.*165T>C) n.699T>C c.595T>C (p.Phe199Leu) c.478T>C (p.Phe160Leu) c.502T>C (p.Phe168Leu) n.644T>C | gnomAD v4 |
| 17 | g.76469734T>G | CA401161200 | AANAT | c.388T>G (p.Phe130Val) c.523T>G (p.Phe175Val) c.*165T>G (n.*165T>G) n.699T>G c.595T>G (p.Phe199Val) c.478T>G (p.Phe160Val) c.502T>G (p.Phe168Val) n.644T>G | |
| 17 | g.76469735del | CA2639996609 | AANAT | c.389del (p.Phe130SerfsTer?) c.524del (p.Phe175SerfsTer?) c.*166del (n.*166del) n.700del c.596del (p.Phe199SerfsTer?) c.479del (p.Phe160SerfsTer?) c.503del (p.Phe168SerfsTer?) n.645del | gnomAD v4 |
| 17 | g.76469735T>A | CA401161202 | AANAT | c.389T>A (p.Phe130Tyr) c.524T>A (p.Phe175Tyr) c.*166T>A (n.*166T>A) n.700T>A c.596T>A (p.Phe199Tyr) c.479T>A (p.Phe160Tyr) c.503T>A (p.Phe168Tyr) n.645T>A | |
| 17 | g.76469735T>C | CA401161203 | AANAT | c.389T>C (p.Phe130Ser) c.524T>C (p.Phe175Ser) c.*166T>C (n.*166T>C) n.700T>C c.596T>C (p.Phe199Ser) c.479T>C (p.Phe160Ser) c.503T>C (p.Phe168Ser) n.645T>C | gnomAD v4 |
| 17 | g.76469735T>G | CA401161204 | AANAT | c.389T>G (p.Phe130Cys) c.524T>G (p.Phe175Cys) c.*166T>G (n.*166T>G) n.700T>G c.596T>G (p.Phe199Cys) c.479T>G (p.Phe160Cys) c.503T>G (p.Phe168Cys) n.645T>G | gnomAD v4 |
| 17 | g.76469736C>A | CA401161205 | AANAT | c.390C>A (p.Phe130Leu) c.525C>A (p.Phe175Leu) c.*167C>A (n.*167C>A) n.701C>A c.597C>A (p.Phe199Leu) c.480C>A (p.Phe160Leu) c.504C>A (p.Phe168Leu) n.646C>A | gnomAD v4 |
| 17 | g.76469736C= | CA2276011955 | AANAT | c.390C= (p.Phe130=) c.525C= (p.Phe175=) c.*167C= (n.*167C=) n.701C= c.597C= (p.Phe199=) c.480C= (p.Phe160=) c.504C= (p.Phe168=) n.646C= | |
| 17 | g.76469736C>G | CA401161206 | AANAT | c.390C>G (p.Phe130Leu) c.525C>G (p.Phe175Leu) c.*167C>G (n.*167C>G) n.701C>G c.597C>G (p.Phe199Leu) c.480C>G (p.Phe160Leu) c.504C>G (p.Phe168Leu) n.646C>G | |
| 17 | g.76469736C>T | CA502066638 | AANAT | c.390C>T (p.Phe130=) c.525C>T (p.Phe175=) c.*167C>T (n.*167C>T) n.701C>T c.597C>T (p.Phe199=) c.480C>T (p.Phe160=) c.504C>T (p.Phe168=) n.646C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469737C>A | CA502066639 | AANAT | c.391C>A (p.Arg131=) c.526C>A (p.Arg176=) c.*168C>A (n.*168C>A) n.702C>A c.598C>A (p.Arg200=) c.481C>A (p.Arg161=) c.505C>A (p.Arg169=) n.647C>A | |
| 17 | g.76469737C= | CA2276011956 | AANAT | c.391C= (p.Arg131=) c.526C= (p.Arg176=) c.*168C= (n.*168C=) n.702C= c.598C= (p.Arg200=) c.481C= (p.Arg161=) c.505C= (p.Arg169=) n.647C= | |
| 17 | g.76469737C>G | CA401161207 | AANAT | c.391C>G (p.Arg131Gly) c.526C>G (p.Arg176Gly) c.*168C>G (n.*168C>G) n.702C>G c.598C>G (p.Arg200Gly) c.481C>G (p.Arg161Gly) c.505C>G (p.Arg169Gly) n.647C>G | gnomAD v4 |
| 17 | g.76469737C>T | CA294178169 | AANAT | c.391C>T (p.Arg131Trp) c.526C>T (p.Arg176Trp) c.*168C>T (n.*168C>T) n.702C>T c.598C>T (p.Arg200Trp) c.481C>T (p.Arg161Trp) c.505C>T (p.Arg169Trp) n.647C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.76469738G>A | CA8786585 | AANAT | c.392G>A (p.Arg131Gln) c.527G>A (p.Arg176Gln) c.*169G>A (n.*169G>A) n.703G>A c.599G>A (p.Arg200Gln) c.482G>A (p.Arg161Gln) c.506G>A (p.Arg169Gln) n.648G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469738G>C | CA401161208 | AANAT | c.392G>C (p.Arg131Pro) c.527G>C (p.Arg176Pro) c.*169G>C (n.*169G>C) n.703G>C c.599G>C (p.Arg200Pro) c.482G>C (p.Arg161Pro) c.506G>C (p.Arg169Pro) n.648G>C | gnomAD v4 |
| 17 | g.76469738G= | CA2276011957 | AANAT | c.392G= (p.Arg131=) c.527G= (p.Arg176=) c.*169G= (n.*169G=) n.703G= c.599G= (p.Arg200=) c.482G= (p.Arg161=) c.506G= (p.Arg169=) n.648G= | |
| 17 | g.76469738G>T | CA401161209 | AANAT | c.392G>T (p.Arg131Leu) c.527G>T (p.Arg176Leu) c.*169G>T (n.*169G>T) n.703G>T c.599G>T (p.Arg200Leu) c.482G>T (p.Arg161Leu) c.506G>T (p.Arg169Leu) n.648G>T | gnomAD v4 |
| 17 | g.76469739G>A | CA502066641 | AANAT | c.393G>A (p.Arg131=) c.528G>A (p.Arg176=) c.*170G>A (n.*170G>A) n.704G>A c.600G>A (p.Arg200=) c.483G>A (p.Arg161=) c.507G>A (p.Arg169=) n.649G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469739G>C | CA502066643 | AANAT | c.393G>C (p.Arg131=) c.528G>C (p.Arg176=) c.*170G>C (n.*170G>C) n.704G>C c.600G>C (p.Arg200=) c.483G>C (p.Arg161=) c.507G>C (p.Arg169=) n.649G>C | |
| 17 | g.76469739G= | CA2276011958 | AANAT | c.393G= (p.Arg131=) c.528G= (p.Arg176=) c.*170G= (n.*170G=) n.704G= c.600G= (p.Arg200=) c.483G= (p.Arg161=) c.507G= (p.Arg169=) n.649G= | |
| 17 | g.76469739G>T | CA502066642 | AANAT | c.393G>T (p.Arg131=) c.528G>T (p.Arg176=) c.*170G>T (n.*170G>T) n.704G>T c.600G>T (p.Arg200=) c.483G>T (p.Arg161=) c.507G>T (p.Arg169=) n.649G>T | gnomAD v4 |
| 17 | g.76469740C>A | CA401161210 | AANAT | c.394C>A (p.Gln132Lys) c.529C>A (p.Gln177Lys) c.*171C>A (n.*171C>A) n.705C>A c.601C>A (p.Gln201Lys) c.484C>A (p.Gln162Lys) c.508C>A (p.Gln170Lys) n.650C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469740C= | CA2276011959 | AANAT | c.394C= (p.Gln132=) c.529C= (p.Gln177=) c.*171C= (n.*171C=) n.705C= c.601C= (p.Gln201=) c.484C= (p.Gln162=) c.508C= (p.Gln170=) n.650C= | |
| 17 | g.76469740C>G | CA401161211 | AANAT | c.394C>G (p.Gln132Glu) c.529C>G (p.Gln177Glu) c.*171C>G (n.*171C>G) n.705C>G c.601C>G (p.Gln201Glu) c.484C>G (p.Gln162Glu) c.508C>G (p.Gln170Glu) n.650C>G | |
| 17 | g.76469740C>T | CA401161212 | AANAT | c.394C>T (p.Gln132Ter) c.529C>T (p.Gln177Ter) c.*171C>T (n.*171C>T) n.705C>T c.601C>T (p.Gln201Ter) c.484C>T (p.Gln162Ter) c.508C>T (p.Gln170Ter) n.650C>T | gnomAD v4 COSMIC COSMIC |
| 17 | g.76469741A>C | CA401161213 | AANAT | c.395A>C (p.Gln132Pro) c.530A>C (p.Gln177Pro) c.*172A>C (n.*172A>C) n.706A>C c.602A>C (p.Gln201Pro) c.485A>C (p.Gln162Pro) c.509A>C (p.Gln170Pro) n.651A>C | |
| 17 | g.76469741A>G | CA401161215 | AANAT | c.395A>G (p.Gln132Arg) c.530A>G (p.Gln177Arg) c.*172A>G (n.*172A>G) n.706A>G c.602A>G (p.Gln201Arg) c.485A>G (p.Gln162Arg) c.509A>G (p.Gln170Arg) n.651A>G | |
| 17 | g.76469741A>T | CA401161214 | AANAT | c.395A>T (p.Gln132Leu) c.530A>T (p.Gln177Leu) c.*172A>T (n.*172A>T) n.706A>T c.602A>T (p.Gln201Leu) c.485A>T (p.Gln162Leu) c.509A>T (p.Gln170Leu) n.651A>T | |
| 17 | g.76469742G>A | CA294178174 | AANAT | c.396G>A (p.Gln132=) c.531G>A (p.Gln177=) c.*173G>A (n.*173G>A) n.707G>A c.603G>A (p.Gln201=) c.486G>A (p.Gln162=) c.510G>A (p.Gln170=) n.652G>A | dbSNP gnomAD v4 |
| 17 | g.76469742G>C | CA401161216 | AANAT | c.396G>C (p.Gln132His) c.531G>C (p.Gln177His) c.*173G>C (n.*173G>C) n.707G>C c.603G>C (p.Gln201His) c.486G>C (p.Gln162His) c.510G>C (p.Gln170His) n.652G>C | |
| 17 | g.76469742G= | CA2276011960 | AANAT | c.396G= (p.Gln132=) c.531G= (p.Gln177=) c.*173G= (n.*173G=) n.707G= c.603G= (p.Gln201=) c.486G= (p.Gln162=) c.510G= (p.Gln170=) n.652G= | |
| 17 | g.76469742G>T | CA401161217 | AANAT | c.396G>T (p.Gln132His) c.531G>T (p.Gln177His) c.*173G>T (n.*173G>T) n.707G>T c.603G>T (p.Gln201His) c.486G>T (p.Gln162His) c.510G>T (p.Gln170His) n.652G>T | gnomAD v4 |
| 17 | g.76469743C>A | CA401161218 | AANAT | c.397C>A (p.Gln133Lys) c.532C>A (p.Gln178Lys) c.*174C>A (n.*174C>A) n.708C>A c.604C>A (p.Gln202Lys) c.487C>A (p.Gln163Lys) c.511C>A (p.Gln171Lys) n.653C>A | gnomAD v4 |
| 17 | g.76469743C>G | CA401161219 | AANAT | c.397C>G (p.Gln133Glu) c.532C>G (p.Gln178Glu) c.*174C>G (n.*174C>G) n.708C>G c.604C>G (p.Gln202Glu) c.487C>G (p.Gln163Glu) c.511C>G (p.Gln171Glu) n.653C>G | |
| 17 | g.76469743C>T | CA401161220 | AANAT | c.397C>T (p.Gln133Ter) c.532C>T (p.Gln178Ter) c.*174C>T (n.*174C>T) n.708C>T c.604C>T (p.Gln202Ter) c.487C>T (p.Gln163Ter) c.511C>T (p.Gln171Ter) n.653C>T | gnomAD v4 |
| 17 | g.76469744A>C | CA401161221 | AANAT | c.398A>C (p.Gln133Pro) c.533A>C (p.Gln178Pro) c.*175A>C (n.*175A>C) n.709A>C c.605A>C (p.Gln202Pro) c.488A>C (p.Gln163Pro) c.512A>C (p.Gln171Pro) n.654A>C | |
| 17 | g.76469744A>G | CA401161222 | AANAT | c.398A>G (p.Gln133Arg) c.533A>G (p.Gln178Arg) c.*175A>G (n.*175A>G) n.709A>G c.605A>G (p.Gln202Arg) c.488A>G (p.Gln163Arg) c.512A>G (p.Gln171Arg) n.654A>G | |
| 17 | g.76469744A>T | CA401161223 | AANAT | c.398A>T (p.Gln133Leu) c.533A>T (p.Gln178Leu) c.*175A>T (n.*175A>T) n.709A>T c.605A>T (p.Gln202Leu) c.488A>T (p.Gln163Leu) c.512A>T (p.Gln171Leu) n.654A>T | |
| 17 | g.76469745G>A | CA502066648 | AANAT | c.399G>A (p.Gln133=) c.534G>A (p.Gln178=) c.*176G>A (n.*176G>A) n.710G>A c.606G>A (p.Gln202=) c.489G>A (p.Gln163=) c.513G>A (p.Gln171=) n.655G>A | gnomAD v4 |
| 17 | g.76469745G>C | CA401161224 | AANAT | c.399G>C (p.Gln133His) c.534G>C (p.Gln178His) c.*176G>C (n.*176G>C) n.710G>C c.606G>C (p.Gln202His) c.489G>C (p.Gln163His) c.513G>C (p.Gln171His) n.655G>C | |
| 17 | g.76469745G>T | CA401161225 | AANAT | c.399G>T (p.Gln133His) c.534G>T (p.Gln178His) c.*176G>T (n.*176G>T) n.710G>T c.606G>T (p.Gln202His) c.489G>T (p.Gln163His) c.513G>T (p.Gln171His) n.655G>T | gnomAD v4 |
| 17 | g.76469746G>A | CA401161228 | AANAT | c.400G>A (p.Gly134Ser) c.535G>A (p.Gly179Ser) c.*177G>A (n.*177G>A) n.711G>A c.607G>A (p.Gly203Ser) c.490G>A (p.Gly164Ser) c.514G>A (p.Gly172Ser) n.656G>A | |
| 17 | g.76469746G>C | CA401161227 | AANAT | c.400G>C (p.Gly134Arg) c.535G>C (p.Gly179Arg) c.*177G>C (n.*177G>C) n.711G>C c.607G>C (p.Gly203Arg) c.490G>C (p.Gly164Arg) c.514G>C (p.Gly172Arg) n.656G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469746G= | CA2276011961 | AANAT | c.400G= (p.Gly134=) c.535G= (p.Gly179=) c.*177G= (n.*177G=) n.711G= c.607G= (p.Gly203=) c.490G= (p.Gly164=) c.514G= (p.Gly172=) n.656G= | |
| 17 | g.76469746G>T | CA401161226 | AANAT | c.400G>T (p.Gly134Cys) c.535G>T (p.Gly179Cys) c.*177G>T (n.*177G>T) n.711G>T c.607G>T (p.Gly203Cys) c.490G>T (p.Gly164Cys) c.514G>T (p.Gly172Cys) n.656G>T | gnomAD v4 |
| 17 | g.76469747G>A | CA401161229 | AANAT | c.401G>A (p.Gly134Asp) c.536G>A (p.Gly179Asp) c.*178G>A (n.*178G>A) n.712G>A c.608G>A (p.Gly203Asp) c.491G>A (p.Gly164Asp) c.515G>A (p.Gly172Asp) n.657G>A | gnomAD v4 |
| 17 | g.76469747G>C | CA401161230 | AANAT | c.401G>C (p.Gly134Ala) c.536G>C (p.Gly179Ala) c.*178G>C (n.*178G>C) n.712G>C c.608G>C (p.Gly203Ala) c.491G>C (p.Gly164Ala) c.515G>C (p.Gly172Ala) n.657G>C | |
| 17 | g.76469747G>T | CA401161231 | AANAT | c.401G>T (p.Gly134Val) c.536G>T (p.Gly179Val) c.*178G>T (n.*178G>T) n.712G>T c.608G>T (p.Gly203Val) c.491G>T (p.Gly164Val) c.515G>T (p.Gly172Val) n.657G>T | gnomAD v4 |
| 17 | g.76469748C>A | CA502066653 | AANAT | c.402C>A (p.Gly134=) c.537C>A (p.Gly179=) c.*179C>A (n.*179C>A) n.713C>A c.609C>A (p.Gly203=) c.492C>A (p.Gly164=) c.516C>A (p.Gly172=) n.658C>A | gnomAD v4 |
| 17 | g.76469748C>G | CA502066651 | AANAT | c.402C>G (p.Gly134=) c.537C>G (p.Gly179=) c.*179C>G (n.*179C>G) n.713C>G c.609C>G (p.Gly203=) c.492C>G (p.Gly164=) c.516C>G (p.Gly172=) n.658C>G | |
| 17 | g.76469748C>T | CA502066652 | AANAT | c.402C>T (p.Gly134=) c.537C>T (p.Gly179=) c.*179C>T (n.*179C>T) n.713C>T c.609C>T (p.Gly203=) c.492C>T (p.Gly164=) c.516C>T (p.Gly172=) n.658C>T | gnomAD v4 |
| 17 | g.76469748dup | CA2639996674 | AANAT | c.402dup (p.Arg135GlnfsTer?) c.537dup (p.Arg180GlnfsTer?) c.*179dup (n.*179dup) n.713dup c.609dup (p.Arg204GlnfsTer?) c.492dup (p.Arg165GlnfsTer?) c.516dup (p.Arg173GlnfsTer?) n.658dup | gnomAD v4 |
| 17 | g.76469749A= | CA2276011962 | AANAT | c.403A= (p.Arg135=) c.538A= (p.Arg180=) c.*180A= (n.*180A=) n.714A= c.610A= (p.Arg204=) c.493A= (p.Arg165=) c.517A= (p.Arg173=) n.659A= | |
| 17 | g.76469749A>C | CA502066654 | AANAT | c.403A>C (p.Arg135=) c.538A>C (p.Arg180=) c.*180A>C (n.*180A>C) n.714A>C c.610A>C (p.Arg204=) c.493A>C (p.Arg165=) c.517A>C (p.Arg173=) n.659A>C | |
| 17 | g.76469749A>G | CA401161232 | AANAT | c.403A>G (p.Arg135Gly) c.538A>G (p.Arg180Gly) c.*180A>G (n.*180A>G) n.714A>G c.610A>G (p.Arg204Gly) c.493A>G (p.Arg165Gly) c.517A>G (p.Arg173Gly) n.659A>G | |
| 17 | g.76469749A>T | CA401161233 | AANAT | c.403A>T (p.Arg135Trp) c.538A>T (p.Arg180Trp) c.*180A>T (n.*180A>T) n.714A>T c.610A>T (p.Arg204Trp) c.493A>T (p.Arg165Trp) c.517A>T (p.Arg173Trp) n.659A>T | |
| 17 | g.76469750G>A | CA8786586 | AANAT | c.404G>A (p.Arg135Lys) c.539G>A (p.Arg180Lys) c.*181G>A (n.*181G>A) n.715G>A c.611G>A (p.Arg204Lys) c.494G>A (p.Arg165Lys) c.518G>A (p.Arg173Lys) n.660G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469750G>C | CA401161234 | AANAT | c.404G>C (p.Arg135Thr) c.539G>C (p.Arg180Thr) c.*181G>C (n.*181G>C) n.715G>C c.611G>C (p.Arg204Thr) c.494G>C (p.Arg165Thr) c.518G>C (p.Arg173Thr) n.660G>C | |
| 17 | g.76469750G= | CA2276011964 | AANAT | c.404G= (p.Arg135=) c.539G= (p.Arg180=) c.*181G= (n.*181G=) n.715G= c.611G= (p.Arg204=) c.494G= (p.Arg165=) c.518G= (p.Arg173=) n.660G= | |
| 17 | g.76469750G>T | CA401161235 | AANAT | c.404G>T (p.Arg135Met) c.539G>T (p.Arg180Met) c.*181G>T (n.*181G>T) n.715G>T c.611G>T (p.Arg204Met) c.494G>T (p.Arg165Met) c.518G>T (p.Arg173Met) n.660G>T | |
| 17 | g.76469753dup | CA2276011963 | AANAT | c.407dup (p.Ile138HisfsTer?) c.542dup (p.Ile183HisfsTer?) c.*184dup (n.*184dup) n.718dup c.614dup (p.Ile207HisfsTer?) c.497dup (p.Ile168HisfsTer?) c.521dup (p.Ile176HisfsTer?) n.663dup | dbSNP gnomAD v4 |
| 17 | g.76469753del | CA2639996681 | AANAT | c.407del (p.Gly136AlafsTer?) c.542del (p.Gly181AlafsTer?) c.*184del (n.*184del) n.718del c.614del (p.Gly205AlafsTer?) c.497del (p.Gly166AlafsTer?) c.521del (p.Gly174AlafsTer?) n.663del | gnomAD v4 |
| 17 | g.76469751G>A | CA502066655 | AANAT | c.405G>A (p.Arg135=) c.540G>A (p.Arg180=) c.*182G>A (n.*182G>A) n.716G>A c.612G>A (p.Arg204=) c.495G>A (p.Arg165=) c.519G>A (p.Arg173=) n.661G>A | |
| 17 | g.76469751G>C | CA401161236 | AANAT | c.405G>C (p.Arg135Ser) c.540G>C (p.Arg180Ser) c.*182G>C (n.*182G>C) n.716G>C c.612G>C (p.Arg204Ser) c.495G>C (p.Arg165Ser) c.519G>C (p.Arg173Ser) n.661G>C | |
| 17 | g.76469751G>T | CA401161237 | AANAT | c.405G>T (p.Arg135Ser) c.540G>T (p.Arg180Ser) c.*182G>T (n.*182G>T) n.716G>T c.612G>T (p.Arg204Ser) c.495G>T (p.Arg165Ser) c.519G>T (p.Arg173Ser) n.661G>T | gnomAD v4 |
| 17 | g.76469752G>A | CA8786587 | AANAT | c.406G>A (p.Gly136Ser) c.541G>A (p.Gly181Ser) c.*183G>A (n.*183G>A) n.717G>A c.613G>A (p.Gly205Ser) c.496G>A (p.Gly166Ser) c.520G>A (p.Gly174Ser) n.662G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469752G>C | CA401161238 | AANAT | c.406G>C (p.Gly136Arg) c.541G>C (p.Gly181Arg) c.*183G>C (n.*183G>C) n.717G>C c.613G>C (p.Gly205Arg) c.496G>C (p.Gly166Arg) c.520G>C (p.Gly174Arg) n.662G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469752G= | CA2276011965 | AANAT | c.406G= (p.Gly136=) c.541G= (p.Gly181=) c.*183G= (n.*183G=) n.717G= c.613G= (p.Gly205=) c.496G= (p.Gly166=) c.520G= (p.Gly174=) n.662G= | |
| 17 | g.76469752G>T | CA401161239 | AANAT | c.406G>T (p.Gly136Cys) c.541G>T (p.Gly181Cys) c.*183G>T (n.*183G>T) n.717G>T c.613G>T (p.Gly205Cys) c.496G>T (p.Gly166Cys) c.520G>T (p.Gly174Cys) n.662G>T | gnomAD v4 |
| 17 | g.76469753G>A | CA401161242 | AANAT | c.407G>A (p.Gly136Asp) c.542G>A (p.Gly181Asp) c.*184G>A (n.*184G>A) n.718G>A c.614G>A (p.Gly205Asp) c.497G>A (p.Gly166Asp) c.521G>A (p.Gly174Asp) n.663G>A | gnomAD v4 |
| 17 | g.76469753G>C | CA401161240 | AANAT | c.407G>C (p.Gly136Ala) c.542G>C (p.Gly181Ala) c.*184G>C (n.*184G>C) n.718G>C c.614G>C (p.Gly205Ala) c.497G>C (p.Gly166Ala) c.521G>C (p.Gly174Ala) n.663G>C | |
| 17 | g.76469753G>T | CA401161241 | AANAT | c.407G>T (p.Gly136Val) c.542G>T (p.Gly181Val) c.*184G>T (n.*184G>T) n.718G>T c.614G>T (p.Gly205Val) c.497G>T (p.Gly166Val) c.521G>T (p.Gly174Val) n.663G>T | gnomAD v4 |
| 17 | g.76469754C>A | CA502066661 | AANAT | c.408C>A (p.Gly136=) c.543C>A (p.Gly181=) c.*185C>A (n.*185C>A) n.719C>A c.615C>A (p.Gly205=) c.498C>A (p.Gly166=) c.522C>A (p.Gly174=) n.664C>A | gnomAD v4 |
| 17 | g.76469754C= | CA2276011966 | AANAT | c.408C= (p.Gly136=) c.543C= (p.Gly181=) c.*185C= (n.*185C=) n.719C= c.615C= (p.Gly205=) c.498C= (p.Gly166=) c.522C= (p.Gly174=) n.664C= | |
| 17 | g.76469754C>G | CA502066659 | AANAT | c.408C>G (p.Gly136=) c.543C>G (p.Gly181=) c.*185C>G (n.*185C>G) n.719C>G c.615C>G (p.Gly205=) c.498C>G (p.Gly166=) c.522C>G (p.Gly174=) n.664C>G | |
| 17 | g.76469754C>T | CA502066660 | AANAT | c.408C>T (p.Gly136=) c.543C>T (p.Gly181=) c.*185C>T (n.*185C>T) n.719C>T c.615C>T (p.Gly205=) c.498C>T (p.Gly166=) c.522C>T (p.Gly174=) n.664C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 17 | g.76469755C>A | CA401161243 | AANAT | c.409C>A (p.Pro137Thr) c.544C>A (p.Pro182Thr) c.*186C>A (n.*186C>A) n.720C>A c.616C>A (p.Pro206Thr) c.499C>A (p.Pro167Thr) c.523C>A (p.Pro175Thr) n.665C>A | gnomAD v4 |
| 17 | g.76469755C= | CA2276011967 | AANAT | c.409C= (p.Pro137=) c.544C= (p.Pro182=) c.*186C= (n.*186C=) n.720C= c.616C= (p.Pro206=) c.499C= (p.Pro167=) c.523C= (p.Pro175=) n.665C= | |
| 17 | g.76469755C>G | CA401161244 | AANAT | c.409C>G (p.Pro137Ala) c.544C>G (p.Pro182Ala) c.*186C>G (n.*186C>G) n.720C>G c.616C>G (p.Pro206Ala) c.499C>G (p.Pro167Ala) c.523C>G (p.Pro175Ala) n.665C>G | |
| 17 | g.76469755C>T | CA8786588 | AANAT | c.409C>T (p.Pro137Ser) c.544C>T (p.Pro182Ser) c.*186C>T (n.*186C>T) n.720C>T c.616C>T (p.Pro206Ser) c.499C>T (p.Pro167Ser) c.523C>T (p.Pro175Ser) n.665C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469756C>A | CA401161245 | AANAT | c.410C>A (p.Pro137His) c.545C>A (p.Pro182His) c.*187C>A (n.*187C>A) n.721C>A c.617C>A (p.Pro206His) c.500C>A (p.Pro167His) c.524C>A (p.Pro175His) n.666C>A | gnomAD v4 |
| 17 | g.76469756C>G | CA401161246 | AANAT | c.410C>G (p.Pro137Arg) c.545C>G (p.Pro182Arg) c.*187C>G (n.*187C>G) n.721C>G c.617C>G (p.Pro206Arg) c.500C>G (p.Pro167Arg) c.524C>G (p.Pro175Arg) n.666C>G | |
| 17 | g.76469756C>T | CA401161247 | AANAT | c.410C>T (p.Pro137Leu) c.545C>T (p.Pro182Leu) c.*187C>T (n.*187C>T) n.721C>T c.617C>T (p.Pro206Leu) c.500C>T (p.Pro167Leu) c.524C>T (p.Pro175Leu) n.666C>T | gnomAD v4 |
| 17 | g.76469757C>A | CA502066665 | AANAT | c.411C>A (p.Pro137=) c.546C>A (p.Pro182=) c.*188C>A (n.*188C>A) n.722C>A c.618C>A (p.Pro206=) c.501C>A (p.Pro167=) c.525C>A (p.Pro175=) n.667C>A | |
| 17 | g.76469757C>G | CA502066666 | AANAT | c.411C>G (p.Pro137=) c.546C>G (p.Pro182=) c.*188C>G (n.*188C>G) n.722C>G c.618C>G (p.Pro206=) c.501C>G (p.Pro167=) c.525C>G (p.Pro175=) n.667C>G | |
| 17 | g.76469757C>T | CA502066668 | AANAT | c.411C>T (p.Pro137=) c.546C>T (p.Pro182=) c.*188C>T (n.*188C>T) n.722C>T c.618C>T (p.Pro206=) c.501C>T (p.Pro167=) c.525C>T (p.Pro175=) n.667C>T | gnomAD v4 |
| 17 | g.76469758A= | CA2276011968 | AANAT | c.412A= (p.Ile138=) c.547A= (p.Ile183=) c.*189A= (n.*189A=) n.723A= c.619A= (p.Ile207=) c.502A= (p.Ile168=) c.526A= (p.Ile176=) n.668A= | |
| 17 | g.76469758A>C | CA401161248 | AANAT | c.412A>C (p.Ile138Leu) c.547A>C (p.Ile183Leu) c.*189A>C (n.*189A>C) n.723A>C c.619A>C (p.Ile207Leu) c.502A>C (p.Ile168Leu) c.526A>C (p.Ile176Leu) n.668A>C | |
| 17 | g.76469758A>G | CA401161249 | AANAT | c.412A>G (p.Ile138Val) c.547A>G (p.Ile183Val) c.*189A>G (n.*189A>G) n.723A>G c.619A>G (p.Ile207Val) c.502A>G (p.Ile168Val) c.526A>G (p.Ile176Val) n.668A>G | dbSNP gnomAD v4 |
| 17 | g.76469758A>T | CA401161250 | AANAT | c.412A>T (p.Ile138Phe) c.547A>T (p.Ile183Phe) c.*189A>T (n.*189A>T) n.723A>T c.619A>T (p.Ile207Phe) c.502A>T (p.Ile168Phe) c.526A>T (p.Ile176Phe) n.668A>T | dbSNP |
| 17 | g.76469759T>A | CA401161251 | AANAT | c.413T>A (p.Ile138Asn) c.548T>A (p.Ile183Asn) c.*190T>A (n.*190T>A) n.724T>A c.620T>A (p.Ile207Asn) c.503T>A (p.Ile168Asn) c.527T>A (p.Ile176Asn) n.669T>A | gnomAD v4 |
| 17 | g.76469759T>C | CA401161252 | AANAT | c.413T>C (p.Ile138Thr) c.548T>C (p.Ile183Thr) c.*190T>C (n.*190T>C) n.724T>C c.620T>C (p.Ile207Thr) c.503T>C (p.Ile168Thr) c.527T>C (p.Ile176Thr) n.669T>C | dbSNP gnomAD v4 |
| 17 | g.76469759T>G | CA401161253 | AANAT | c.413T>G (p.Ile138Ser) c.548T>G (p.Ile183Ser) c.*190T>G (n.*190T>G) n.724T>G c.620T>G (p.Ile207Ser) c.503T>G (p.Ile168Ser) c.527T>G (p.Ile176Ser) n.669T>G | |
| 17 | g.76469759T= | CA2276011969 | AANAT | c.413T= (p.Ile138=) c.548T= (p.Ile183=) c.*190T= (n.*190T=) n.724T= c.620T= (p.Ile207=) c.503T= (p.Ile168=) c.527T= (p.Ile176=) n.669T= | |
| 17 | g.76469760C>A | CA502066669 | AANAT | c.414C>A (p.Ile138=) c.549C>A (p.Ile183=) c.*191C>A (n.*191C>A) n.725C>A c.621C>A (p.Ile207=) c.504C>A (p.Ile168=) c.528C>A (p.Ile176=) n.670C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469760C= | CA2276011970 | AANAT | c.414C= (p.Ile138=) c.549C= (p.Ile183=) c.*191C= (n.*191C=) n.725C= c.621C= (p.Ile207=) c.504C= (p.Ile168=) c.528C= (p.Ile176=) n.670C= | |
| 17 | g.76469760C>G | CA401161254 | AANAT | c.414C>G (p.Ile138Met) c.549C>G (p.Ile183Met) c.*191C>G (n.*191C>G) n.725C>G c.621C>G (p.Ile207Met) c.504C>G (p.Ile168Met) c.528C>G (p.Ile176Met) n.670C>G | |
| 17 | g.76469760C>T | CA502066670 | AANAT | c.414C>T (p.Ile138=) c.549C>T (p.Ile183=) c.*191C>T (n.*191C>T) n.725C>T c.621C>T (p.Ile207=) c.504C>T (p.Ile168=) c.528C>T (p.Ile176=) n.670C>T | |
| 17 | g.76469761C>A | CA401161256 | AANAT | c.415C>A (p.Leu139Met) c.550C>A (p.Leu184Met) c.*192C>A (n.*192C>A) n.726C>A c.622C>A (p.Leu208Met) c.505C>A (p.Leu169Met) c.529C>A (p.Leu177Met) n.671C>A | |
| 17 | g.76469761C>G | CA401161255 | AANAT | c.415C>G (p.Leu139Val) c.550C>G (p.Leu184Val) c.*192C>G (n.*192C>G) n.726C>G c.622C>G (p.Leu208Val) c.505C>G (p.Leu169Val) c.529C>G (p.Leu177Val) n.671C>G | |
| 17 | g.76469761C>T | CA502066671 | AANAT | c.415C>T (p.Leu139=) c.550C>T (p.Leu184=) c.*192C>T (n.*192C>T) n.726C>T c.622C>T (p.Leu208=) c.505C>T (p.Leu169=) c.529C>T (p.Leu177=) n.671C>T | |
| 17 | g.76469762T>A | CA401161259 | AANAT | c.416T>A (p.Leu139Gln) c.551T>A (p.Leu184Gln) c.*193T>A (n.*193T>A) n.727T>A c.623T>A (p.Leu208Gln) c.506T>A (p.Leu169Gln) c.530T>A (p.Leu177Gln) n.672T>A | |
| 17 | g.76469762T>C | CA401161257 | AANAT | c.416T>C (p.Leu139Pro) c.551T>C (p.Leu184Pro) c.*193T>C (n.*193T>C) n.727T>C c.623T>C (p.Leu208Pro) c.506T>C (p.Leu169Pro) c.530T>C (p.Leu177Pro) n.672T>C | |
| 17 | g.76469762T>G | CA401161258 | AANAT | c.416T>G (p.Leu139Arg) c.551T>G (p.Leu184Arg) c.*193T>G (n.*193T>G) n.727T>G c.623T>G (p.Leu208Arg) c.506T>G (p.Leu169Arg) c.530T>G (p.Leu177Arg) n.672T>G | |
| 17 | g.76469763G>A | CA502066674 | AANAT | c.417G>A (p.Leu139=) c.552G>A (p.Leu184=) c.*194G>A (n.*194G>A) n.728G>A c.624G>A (p.Leu208=) c.507G>A (p.Leu169=) c.531G>A (p.Leu177=) n.673G>A | |
| 17 | g.76469763G>C | CA502066675 | AANAT | c.417G>C (p.Leu139=) c.552G>C (p.Leu184=) c.*194G>C (n.*194G>C) n.728G>C c.624G>C (p.Leu208=) c.507G>C (p.Leu169=) c.531G>C (p.Leu177=) n.673G>C | |
| 17 | g.76469763G>T | CA502066676 | AANAT | c.417G>T (p.Leu139=) c.552G>T (p.Leu184=) c.*194G>T (n.*194G>T) n.728G>T c.624G>T (p.Leu208=) c.507G>T (p.Leu169=) c.531G>T (p.Leu177=) n.673G>T | gnomAD v4 |
| 17 | g.76469764C>A | CA401161260 | AANAT | c.418C>A (p.Leu140Met) c.553C>A (p.Leu185Met) c.*195C>A (n.*195C>A) n.729C>A c.625C>A (p.Leu209Met) c.508C>A (p.Leu170Met) c.532C>A (p.Leu178Met) n.674C>A | gnomAD v4 |
| 17 | g.76469764C>G | CA401161261 | AANAT | c.418C>G (p.Leu140Val) c.553C>G (p.Leu185Val) c.*195C>G (n.*195C>G) n.729C>G c.625C>G (p.Leu209Val) c.508C>G (p.Leu170Val) c.532C>G (p.Leu178Val) n.674C>G | |
| 17 | g.76469764C>T | CA502066677 | AANAT | c.418C>T (p.Leu140=) c.553C>T (p.Leu185=) c.*195C>T (n.*195C>T) n.729C>T c.625C>T (p.Leu209=) c.508C>T (p.Leu170=) c.532C>T (p.Leu178=) n.674C>T | gnomAD v4 |
| 17 | g.76469765T>A | CA401161262 | AANAT | c.419T>A (p.Leu140Gln) c.554T>A (p.Leu185Gln) c.*196T>A (n.*196T>A) n.730T>A c.626T>A (p.Leu209Gln) c.509T>A (p.Leu170Gln) c.533T>A (p.Leu178Gln) n.675T>A | |
| 17 | g.76469765T>C | CA401161263 | AANAT | c.419T>C (p.Leu140Pro) c.554T>C (p.Leu185Pro) c.*196T>C (n.*196T>C) n.730T>C c.626T>C (p.Leu209Pro) c.509T>C (p.Leu170Pro) c.533T>C (p.Leu178Pro) n.675T>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469765T>G | CA401161264 | AANAT | c.419T>G (p.Leu140Arg) c.554T>G (p.Leu185Arg) c.*196T>G (n.*196T>G) n.730T>G c.626T>G (p.Leu209Arg) c.509T>G (p.Leu170Arg) c.533T>G (p.Leu178Arg) n.675T>G | |
| 17 | g.76469765T= | CA2276011971 | AANAT | c.419T= (p.Leu140=) c.554T= (p.Leu185=) c.*196T= (n.*196T=) n.730T= c.626T= (p.Leu209=) c.509T= (p.Leu170=) c.533T= (p.Leu178=) n.675T= | |
| 17 | g.76469766G>A | CA502066678 | AANAT | c.420G>A (p.Leu140=) c.555G>A (p.Leu185=) c.*197G>A (n.*197G>A) n.731G>A c.627G>A (p.Leu209=) c.510G>A (p.Leu170=) c.534G>A (p.Leu178=) n.676G>A | |
| 17 | g.76469766G>C | CA502066679 | AANAT | c.420G>C (p.Leu140=) c.555G>C (p.Leu185=) c.*197G>C (n.*197G>C) n.731G>C c.627G>C (p.Leu209=) c.510G>C (p.Leu170=) c.534G>C (p.Leu178=) n.676G>C | |
| 17 | g.76469766G>T | CA502066681 | AANAT | c.420G>T (p.Leu140=) c.555G>T (p.Leu185=) c.*197G>T (n.*197G>T) n.731G>T c.627G>T (p.Leu209=) c.510G>T (p.Leu170=) c.534G>T (p.Leu178=) n.676G>T | |
| 17 | g.76469767T>A | CA401161265 | AANAT | c.421T>A (p.Trp141Arg) c.556T>A (p.Trp186Arg) c.*198T>A (n.*198T>A) n.732T>A c.628T>A (p.Trp210Arg) c.511T>A (p.Trp171Arg) c.535T>A (p.Trp179Arg) n.677T>A | gnomAD v3 gnomAD v4 |
| 17 | g.76469767T>C | CA401161266 | AANAT | c.421T>C (p.Trp141Arg) c.556T>C (p.Trp186Arg) c.*198T>C (n.*198T>C) n.732T>C c.628T>C (p.Trp210Arg) c.511T>C (p.Trp171Arg) c.535T>C (p.Trp179Arg) n.677T>C | |
| 17 | g.76469767T>G | CA401161267 | AANAT | c.421T>G (p.Trp141Gly) c.556T>G (p.Trp186Gly) c.*198T>G (n.*198T>G) n.732T>G c.628T>G (p.Trp210Gly) c.511T>G (p.Trp171Gly) c.535T>G (p.Trp179Gly) n.677T>G | |
| 17 | g.76469768G>A | CA401161268 | AANAT | c.422G>A (p.Trp141Ter) c.557G>A (p.Trp186Ter) c.*199G>A (n.*199G>A) n.733G>A c.629G>A (p.Trp210Ter) c.512G>A (p.Trp171Ter) c.536G>A (p.Trp179Ter) n.678G>A | |
| 17 | g.76469768G>C | CA401161269 | AANAT | c.422G>C (p.Trp141Ser) c.557G>C (p.Trp186Ser) c.*199G>C (n.*199G>C) n.733G>C c.629G>C (p.Trp210Ser) c.512G>C (p.Trp171Ser) c.536G>C (p.Trp179Ser) n.678G>C | |
| 17 | g.76469768G>T | CA401161270 | AANAT | c.422G>T (p.Trp141Leu) c.557G>T (p.Trp186Leu) c.*199G>T (n.*199G>T) n.733G>T c.629G>T (p.Trp210Leu) c.512G>T (p.Trp171Leu) c.536G>T (p.Trp179Leu) n.678G>T | |
| 17 | g.76469769G>A | CA401161273 | AANAT | c.423G>A (p.Trp141Ter) c.558G>A (p.Trp186Ter) c.*200G>A (n.*200G>A) n.734G>A c.630G>A (p.Trp210Ter) c.513G>A (p.Trp171Ter) c.537G>A (p.Trp179Ter) n.679G>A | gnomAD v4 |
| 17 | g.76469769G>C | CA401161271 | AANAT | c.423G>C (p.Trp141Cys) c.558G>C (p.Trp186Cys) c.*200G>C (n.*200G>C) n.734G>C c.630G>C (p.Trp210Cys) c.513G>C (p.Trp171Cys) c.537G>C (p.Trp179Cys) n.679G>C | |
| 17 | g.76469769G>T | CA401161272 | AANAT | c.423G>T (p.Trp141Cys) c.558G>T (p.Trp186Cys) c.*200G>T (n.*200G>T) n.734G>T c.630G>T (p.Trp210Cys) c.513G>T (p.Trp171Cys) c.537G>T (p.Trp179Cys) n.679G>T | gnomAD v4 |
| 17 | g.76469770C>A | CA294178187 | AANAT | c.424C>A (p.Arg142Ser) c.559C>A (p.Arg187Ser) c.*201C>A (n.*201C>A) n.735C>A c.631C>A (p.Arg211Ser) c.514C>A (p.Arg172Ser) c.538C>A (p.Arg180Ser) n.680C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469770C= | CA2276011972 | AANAT | c.424C= (p.Arg142=) c.559C= (p.Arg187=) c.*201C= (n.*201C=) n.735C= c.631C= (p.Arg211=) c.514C= (p.Arg172=) c.538C= (p.Arg180=) n.680C= | |
| 17 | g.76469770C>G | CA401161274 | AANAT | c.424C>G (p.Arg142Gly) c.559C>G (p.Arg187Gly) c.*201C>G (n.*201C>G) n.735C>G c.631C>G (p.Arg211Gly) c.514C>G (p.Arg172Gly) c.538C>G (p.Arg180Gly) n.680C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469770C>T | CA8786589 | AANAT | c.424C>T (p.Arg142Cys) c.559C>T (p.Arg187Cys) c.*201C>T (n.*201C>T) n.735C>T c.631C>T (p.Arg211Cys) c.514C>T (p.Arg172Cys) c.538C>T (p.Arg180Cys) n.680C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469771G>A | CA8786590 | AANAT | c.425G>A (p.Arg142His) c.560G>A (p.Arg187His) c.*202G>A (n.*202G>A) n.736G>A c.632G>A (p.Arg211His) c.515G>A (p.Arg172His) c.539G>A (p.Arg180His) n.681G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469771G>C | CA401161275 | AANAT | c.425G>C (p.Arg142Pro) c.560G>C (p.Arg187Pro) c.*202G>C (n.*202G>C) n.736G>C c.632G>C (p.Arg211Pro) c.515G>C (p.Arg172Pro) c.539G>C (p.Arg180Pro) n.681G>C | |
| 17 | g.76469771G= | CA2276011973 | AANAT | c.425G= (p.Arg142=) c.560G= (p.Arg187=) c.*202G= (n.*202G=) n.736G= c.632G= (p.Arg211=) c.515G= (p.Arg172=) c.539G= (p.Arg180=) n.681G= | |
| 17 | g.76469771G>T | CA401161276 | AANAT | c.425G>T (p.Arg142Leu) c.560G>T (p.Arg187Leu) c.*202G>T (n.*202G>T) n.736G>T c.632G>T (p.Arg211Leu) c.515G>T (p.Arg172Leu) c.539G>T (p.Arg180Leu) n.681G>T | gnomAD v4 |
| 17 | g.76469772C>A | CA502066687 | AANAT | c.426C>A (p.Arg142=) c.561C>A (p.Arg187=) c.*203C>A (n.*203C>A) n.737C>A c.633C>A (p.Arg211=) c.516C>A (p.Arg172=) c.540C>A (p.Arg180=) n.682C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469772C= | CA2276011974 | AANAT | c.426C= (p.Arg142=) c.561C= (p.Arg187=) c.*203C= (n.*203C=) n.737C= c.633C= (p.Arg211=) c.516C= (p.Arg172=) c.540C= (p.Arg180=) n.682C= | |
| 17 | g.76469772C>G | CA502066688 | AANAT | c.426C>G (p.Arg142=) c.561C>G (p.Arg187=) c.*203C>G (n.*203C>G) n.737C>G c.633C>G (p.Arg211=) c.516C>G (p.Arg172=) c.540C>G (p.Arg180=) n.682C>G | |
| 17 | g.76469772C>T | CA502066689 | AANAT | c.426C>T (p.Arg142=) c.561C>T (p.Arg187=) c.*203C>T (n.*203C>T) n.737C>T c.633C>T (p.Arg211=) c.516C>T (p.Arg172=) c.540C>T (p.Arg180=) n.682C>T | gnomAD v4 |
| 17 | g.76469773T>A | CA401161277 | AANAT | c.427T>A (p.Tyr143Asn) c.562T>A (p.Tyr188Asn) c.*204T>A (n.*204T>A) n.738T>A c.634T>A (p.Tyr212Asn) c.517T>A (p.Tyr173Asn) c.541T>A (p.Tyr181Asn) n.683T>A | |
| 17 | g.76469773T>C | CA401161278 | AANAT | c.427T>C (p.Tyr143His) c.562T>C (p.Tyr188His) c.*204T>C (n.*204T>C) n.738T>C c.634T>C (p.Tyr212His) c.517T>C (p.Tyr173His) c.541T>C (p.Tyr181His) n.683T>C | |
| 17 | g.76469773T>G | CA401161279 | AANAT | c.427T>G (p.Tyr143Asp) c.562T>G (p.Tyr188Asp) c.*204T>G (n.*204T>G) n.738T>G c.634T>G (p.Tyr212Asp) c.517T>G (p.Tyr173Asp) c.541T>G (p.Tyr181Asp) n.683T>G | |
| 17 | g.76469774A>C | CA401161280 | AANAT | c.428A>C (p.Tyr143Ser) c.563A>C (p.Tyr188Ser) c.*205A>C (n.*205A>C) n.739A>C c.635A>C (p.Tyr212Ser) c.518A>C (p.Tyr173Ser) c.542A>C (p.Tyr181Ser) n.684A>C | |
| 17 | g.76469774A>G | CA401161281 | AANAT | c.428A>G (p.Tyr143Cys) c.563A>G (p.Tyr188Cys) c.*205A>G (n.*205A>G) n.739A>G c.635A>G (p.Tyr212Cys) c.518A>G (p.Tyr173Cys) c.542A>G (p.Tyr181Cys) n.684A>G | |
| 17 | g.76469774A>T | CA401161282 | AANAT | c.428A>T (p.Tyr143Phe) c.563A>T (p.Tyr188Phe) c.*205A>T (n.*205A>T) n.739A>T c.635A>T (p.Tyr212Phe) c.518A>T (p.Tyr173Phe) c.542A>T (p.Tyr181Phe) n.684A>T | |
| 17 | g.76469775C>A | CA401161284 | AANAT | c.429C>A (p.Tyr143Ter) c.564C>A (p.Tyr188Ter) c.*206C>A (n.*206C>A) n.740C>A c.636C>A (p.Tyr212Ter) c.519C>A (p.Tyr173Ter) c.543C>A (p.Tyr181Ter) n.685C>A | |
| 17 | g.76469775C>G | CA401161283 | AANAT | c.429C>G (p.Tyr143Ter) c.564C>G (p.Tyr188Ter) c.*206C>G (n.*206C>G) n.740C>G c.636C>G (p.Tyr212Ter) c.519C>G (p.Tyr173Ter) c.543C>G (p.Tyr181Ter) n.685C>G | |
| 17 | g.76469775C>T | CA502066693 | AANAT | c.429C>T (p.Tyr143=) c.564C>T (p.Tyr188=) c.*206C>T (n.*206C>T) n.740C>T c.636C>T (p.Tyr212=) c.519C>T (p.Tyr173=) c.543C>T (p.Tyr181=) n.685C>T | |
| 17 | g.76469776C>A | CA401161285 | AANAT | c.430C>A (p.Leu144Met) c.565C>A (p.Leu189Met) c.*207C>A (n.*207C>A) n.741C>A c.637C>A (p.Leu213Met) c.520C>A (p.Leu174Met) c.544C>A (p.Leu182Met) n.686C>A | gnomAD v4 |
| 17 | g.76469776C>G | CA401161286 | AANAT | c.430C>G (p.Leu144Val) c.565C>G (p.Leu189Val) c.*207C>G (n.*207C>G) n.741C>G c.637C>G (p.Leu213Val) c.520C>G (p.Leu174Val) c.544C>G (p.Leu182Val) n.686C>G | COSMIC COSMIC |
| 17 | g.76469776C>T | CA502066694 | AANAT | c.430C>T (p.Leu144=) c.565C>T (p.Leu189=) c.*207C>T (n.*207C>T) n.741C>T c.637C>T (p.Leu213=) c.520C>T (p.Leu174=) c.544C>T (p.Leu182=) n.686C>T | gnomAD v4 |
| 17 | g.76469777T>A | CA401161287 | AANAT | c.431T>A (p.Leu144Gln) c.566T>A (p.Leu189Gln) c.*208T>A (n.*208T>A) n.742T>A c.638T>A (p.Leu213Gln) c.521T>A (p.Leu174Gln) c.545T>A (p.Leu182Gln) n.687T>A | |
| 17 | g.76469777T>C | CA401161288 | AANAT | c.431T>C (p.Leu144Pro) c.566T>C (p.Leu189Pro) c.*208T>C (n.*208T>C) n.742T>C c.638T>C (p.Leu213Pro) c.521T>C (p.Leu174Pro) c.545T>C (p.Leu182Pro) n.687T>C | gnomAD v4 |
| 17 | g.76469777T>G | CA401161289 | AANAT | c.431T>G (p.Leu144Arg) c.566T>G (p.Leu189Arg) c.*208T>G (n.*208T>G) n.742T>G c.638T>G (p.Leu213Arg) c.521T>G (p.Leu174Arg) c.545T>G (p.Leu182Arg) n.687T>G | |
| 17 | g.76469778G>A | CA502066701 | AANAT | c.432G>A (p.Leu144=) c.567G>A (p.Leu189=) c.*209G>A (n.*209G>A) n.743G>A c.639G>A (p.Leu213=) c.522G>A (p.Leu174=) c.546G>A (p.Leu182=) n.688G>A | dbSNP gnomAD v4 |
| 17 | g.76469778G>C | CA502066699 | AANAT | c.432G>C (p.Leu144=) c.567G>C (p.Leu189=) c.*209G>C (n.*209G>C) n.743G>C c.639G>C (p.Leu213=) c.522G>C (p.Leu174=) c.546G>C (p.Leu182=) n.688G>C | |
| 17 | g.76469778G>T | CA502066697 | AANAT | c.432G>T (p.Leu144=) c.567G>T (p.Leu189=) c.*209G>T (n.*209G>T) n.743G>T c.639G>T (p.Leu213=) c.522G>T (p.Leu174=) c.546G>T (p.Leu182=) n.688G>T |