| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 17 | g.76469779C>A | CA401161290 | AANAT | c.433C>A (p.His145Asn) c.568C>A (p.His190Asn) c.*210C>A (n.*210C>A) n.744C>A c.640C>A (p.His214Asn) c.523C>A (p.His175Asn) c.547C>A (p.His183Asn) n.689C>A | gnomAD v4 |
| 17 | g.76469779C= | CA2276011975 | AANAT | c.433C= (p.His145=) c.568C= (p.His190=) c.*210C= (n.*210C=) n.744C= c.640C= (p.His214=) c.523C= (p.His175=) c.547C= (p.His183=) n.689C= | |
| 17 | g.76469779C>G | CA401161291 | AANAT | c.433C>G (p.His145Asp) c.568C>G (p.His190Asp) c.*210C>G (n.*210C>G) n.744C>G c.640C>G (p.His214Asp) c.523C>G (p.His175Asp) c.547C>G (p.His183Asp) n.689C>G | |
| 17 | g.76469779C>T | CA401161292 | AANAT | c.433C>T (p.His145Tyr) c.568C>T (p.His190Tyr) c.*210C>T (n.*210C>T) n.744C>T c.640C>T (p.His214Tyr) c.523C>T (p.His175Tyr) c.547C>T (p.His183Tyr) n.689C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469780A>C | CA401161293 | AANAT | c.434A>C (p.His145Pro) c.569A>C (p.His190Pro) c.*211A>C (n.*211A>C) n.745A>C c.641A>C (p.His214Pro) c.524A>C (p.His175Pro) c.548A>C (p.His183Pro) n.690A>C | |
| 17 | g.76469780A>G | CA401161294 | AANAT | c.434A>G (p.His145Arg) c.569A>G (p.His190Arg) c.*211A>G (n.*211A>G) n.745A>G c.641A>G (p.His214Arg) c.524A>G (p.His175Arg) c.548A>G (p.His183Arg) n.690A>G | |
| 17 | g.76469780A>T | CA401161296 | AANAT | c.434A>T (p.His145Leu) c.569A>T (p.His190Leu) c.*211A>T (n.*211A>T) n.745A>T c.641A>T (p.His214Leu) c.524A>T (p.His175Leu) c.548A>T (p.His183Leu) n.690A>T | gnomAD v4 |
| 17 | g.76469781C>A | CA401161298 | AANAT | c.435C>A (p.His145Gln) c.570C>A (p.His190Gln) c.*212C>A (n.*212C>A) n.746C>A c.642C>A (p.His214Gln) c.525C>A (p.His175Gln) c.549C>A (p.His183Gln) n.691C>A | gnomAD v4 |
| 17 | g.76469781C= | CA2276011976 | AANAT | c.435C= (p.His145=) c.570C= (p.His190=) c.*212C= (n.*212C=) n.746C= c.642C= (p.His214=) c.525C= (p.His175=) c.549C= (p.His183=) n.691C= | |
| 17 | g.76469781C>G | CA401161300 | AANAT | c.435C>G (p.His145Gln) c.570C>G (p.His190Gln) c.*212C>G (n.*212C>G) n.746C>G c.642C>G (p.His214Gln) c.525C>G (p.His175Gln) c.549C>G (p.His183Gln) n.691C>G | |
| 17 | g.76469781C>T | CA8786591 | AANAT | c.435C>T (p.His145=) c.570C>T (p.His190=) c.*212C>T (n.*212C>T) n.746C>T c.642C>T (p.His214=) c.525C>T (p.His175=) c.549C>T (p.His183=) n.691C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469782C>A | CA401161306 | AANAT | c.436C>A (p.His146Asn) c.571C>A (p.His191Asn) c.*213C>A (n.*213C>A) n.747C>A c.643C>A (p.His215Asn) c.526C>A (p.His176Asn) c.550C>A (p.His184Asn) n.692C>A | |
| 17 | g.76469782C>G | CA401161305 | AANAT | c.436C>G (p.His146Asp) c.571C>G (p.His191Asp) c.*213C>G (n.*213C>G) n.747C>G c.643C>G (p.His215Asp) c.526C>G (p.His176Asp) c.550C>G (p.His184Asp) n.692C>G | |
| 17 | g.76469782C>T | CA401161303 | AANAT | c.436C>T (p.His146Tyr) c.571C>T (p.His191Tyr) c.*213C>T (n.*213C>T) n.747C>T c.643C>T (p.His215Tyr) c.526C>T (p.His176Tyr) c.550C>T (p.His184Tyr) n.692C>T | gnomAD v4 |
| 17 | g.76469783A>C | CA401161309 | AANAT | c.437A>C (p.His146Pro) c.572A>C (p.His191Pro) c.*214A>C (n.*214A>C) n.748A>C c.644A>C (p.His215Pro) c.527A>C (p.His176Pro) c.551A>C (p.His184Pro) n.693A>C | |
| 17 | g.76469783A>G | CA401161311 | AANAT | c.437A>G (p.His146Arg) c.572A>G (p.His191Arg) c.*214A>G (n.*214A>G) n.748A>G c.644A>G (p.His215Arg) c.527A>G (p.His176Arg) c.551A>G (p.His184Arg) n.693A>G | |
| 17 | g.76469783A>T | CA401161313 | AANAT | c.437A>T (p.His146Leu) c.572A>T (p.His191Leu) c.*214A>T (n.*214A>T) n.748A>T c.644A>T (p.His215Leu) c.527A>T (p.His176Leu) c.551A>T (p.His184Leu) n.693A>T | |
| 17 | g.76469784C>A | CA401161315 | AANAT | c.438C>A (p.His146Gln) c.573C>A (p.His191Gln) c.*215C>A (n.*215C>A) n.749C>A c.645C>A (p.His215Gln) c.528C>A (p.His176Gln) c.552C>A (p.His184Gln) n.694C>A | |
| 17 | g.76469784C= | CA2276011977 | AANAT | c.438C= (p.His146=) c.573C= (p.His191=) c.*215C= (n.*215C=) n.749C= c.645C= (p.His215=) c.528C= (p.His176=) c.552C= (p.His184=) n.694C= | |
| 17 | g.76469784C>G | CA8786593 | AANAT | c.438C>G (p.His146Gln) c.573C>G (p.His191Gln) c.*215C>G (n.*215C>G) n.749C>G c.645C>G (p.His215Gln) c.528C>G (p.His176Gln) c.552C>G (p.His184Gln) n.694C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469784C>T | CA8786592 | AANAT | c.438C>T (p.His146=) c.573C>T (p.His191=) c.*215C>T (n.*215C>T) n.749C>T c.645C>T (p.His215=) c.528C>T (p.His176=) c.552C>T (p.His184=) n.694C>T | dbSNP ExAC gnomAD v2 |
| 17 | g.76469785C>A | CA401161320 | AANAT | c.439C>A (p.Leu147Met) c.574C>A (p.Leu192Met) c.*216C>A (n.*216C>A) n.750C>A c.646C>A (p.Leu216Met) c.529C>A (p.Leu177Met) c.553C>A (p.Leu185Met) n.695C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469785C= | CA2276011978 | AANAT | c.439C= (p.Leu147=) c.574C= (p.Leu192=) c.*216C= (n.*216C=) n.750C= c.646C= (p.Leu216=) c.529C= (p.Leu177=) c.553C= (p.Leu185=) n.695C= | |
| 17 | g.76469785C>G | CA401161321 | AANAT | c.439C>G (p.Leu147Val) c.574C>G (p.Leu192Val) c.*216C>G (n.*216C>G) n.750C>G c.646C>G (p.Leu216Val) c.529C>G (p.Leu177Val) c.553C>G (p.Leu185Val) n.695C>G | |
| 17 | g.76469785C>T | CA502066712 | AANAT | c.439C>T (p.Leu147=) c.574C>T (p.Leu192=) c.*216C>T (n.*216C>T) n.750C>T c.646C>T (p.Leu216=) c.529C>T (p.Leu177=) c.553C>T (p.Leu185=) n.695C>T | gnomAD v4 |
| 17 | g.76469786T>A | CA401161324 | AANAT | c.440T>A (p.Leu147Gln) c.575T>A (p.Leu192Gln) c.*217T>A (n.*217T>A) n.751T>A c.647T>A (p.Leu216Gln) c.530T>A (p.Leu177Gln) c.554T>A (p.Leu185Gln) n.696T>A | |
| 17 | g.76469786T>C | CA401161326 | AANAT | c.440T>C (p.Leu147Pro) c.575T>C (p.Leu192Pro) c.*217T>C (n.*217T>C) n.751T>C c.647T>C (p.Leu216Pro) c.530T>C (p.Leu177Pro) c.554T>C (p.Leu185Pro) n.696T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469786T>G | CA401161328 | AANAT | c.440T>G (p.Leu147Arg) c.575T>G (p.Leu192Arg) c.*217T>G (n.*217T>G) n.751T>G c.647T>G (p.Leu216Arg) c.530T>G (p.Leu177Arg) c.554T>G (p.Leu185Arg) n.696T>G | |
| 17 | g.76469786T= | CA2276011979 | AANAT | c.440T= (p.Leu147=) c.575T= (p.Leu192=) c.*217T= (n.*217T=) n.751T= c.647T= (p.Leu216=) c.530T= (p.Leu177=) c.554T= (p.Leu185=) n.696T= | |
| 17 | g.76469787G>A | CA294178214 | AANAT | c.441G>A (p.Leu147=) c.576G>A (p.Leu192=) c.*218G>A (n.*218G>A) n.752G>A c.648G>A (p.Leu216=) c.531G>A (p.Leu177=) c.555G>A (p.Leu185=) n.697G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469787G>C | CA294178215 | AANAT | c.441G>C (p.Leu147=) c.576G>C (p.Leu192=) c.*218G>C (n.*218G>C) n.752G>C c.648G>C (p.Leu216=) c.531G>C (p.Leu177=) c.555G>C (p.Leu185=) n.697G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469787G= | CA2276011980 | AANAT | c.441G= (p.Leu147=) c.576G= (p.Leu192=) c.*218G= (n.*218G=) n.752G= c.648G= (p.Leu216=) c.531G= (p.Leu177=) c.555G= (p.Leu185=) n.697G= | |
| 17 | g.76469787G>T | CA502066715 | AANAT | c.441G>T (p.Leu147=) c.576G>T (p.Leu192=) c.*218G>T (n.*218G>T) n.752G>T c.648G>T (p.Leu216=) c.531G>T (p.Leu177=) c.555G>T (p.Leu185=) n.697G>T | gnomAD v4 |
| 17 | g.76469787_76469790dup | CA2639996762 | AANAT | c.441_444dup (p.Ser149GlyfsTer22) c.576_579dup (p.Ser194GlyfsTer22) c.*218_*221dup (n.*218_*221dup) n.752_755dup c.648_651dup (p.Ser218GlyfsTer22) c.531_534dup (p.Ser179GlyfsTer22) c.555_558dup (p.Ser187GlyfsTer22) n.697_700dup | gnomAD v4 |
| 17 | g.76469788G>A | CA401161335 | AANAT | c.442G>A (p.Gly148Ser) c.577G>A (p.Gly193Ser) c.*219G>A (n.*219G>A) n.753G>A c.649G>A (p.Gly217Ser) c.532G>A (p.Gly178Ser) c.556G>A (p.Gly186Ser) n.698G>A | |
| 17 | g.76469788G>C | CA401161332 | AANAT | c.442G>C (p.Gly148Arg) c.577G>C (p.Gly193Arg) c.*219G>C (n.*219G>C) n.753G>C c.649G>C (p.Gly217Arg) c.532G>C (p.Gly178Arg) c.556G>C (p.Gly186Arg) n.698G>C | |
| 17 | g.76469788G>T | CA401161334 | AANAT | c.442G>T (p.Gly148Cys) c.577G>T (p.Gly193Cys) c.*219G>T (n.*219G>T) n.753G>T c.649G>T (p.Gly217Cys) c.532G>T (p.Gly178Cys) c.556G>T (p.Gly186Cys) n.698G>T | gnomAD v4 |
| 17 | g.76469789G>A | CA401161337 | AANAT | c.443G>A (p.Gly148Asp) c.578G>A (p.Gly193Asp) c.*220G>A (n.*220G>A) n.754G>A c.650G>A (p.Gly217Asp) c.533G>A (p.Gly178Asp) c.557G>A (p.Gly186Asp) n.699G>A | gnomAD v4 |
| 17 | g.76469789G>C | CA401161340 | AANAT | c.443G>C (p.Gly148Ala) c.578G>C (p.Gly193Ala) c.*220G>C (n.*220G>C) n.754G>C c.650G>C (p.Gly217Ala) c.533G>C (p.Gly178Ala) c.557G>C (p.Gly186Ala) n.699G>C | |
| 17 | g.76469789G>T | CA401161338 | AANAT | c.443G>T (p.Gly148Val) c.578G>T (p.Gly193Val) c.*220G>T (n.*220G>T) n.754G>T c.650G>T (p.Gly217Val) c.533G>T (p.Gly178Val) c.557G>T (p.Gly186Val) n.699G>T | |
| 17 | g.76469790C>A | CA502066719 | AANAT | c.444C>A (p.Gly148=) c.579C>A (p.Gly193=) c.*221C>A (n.*221C>A) n.755C>A c.651C>A (p.Gly217=) c.534C>A (p.Gly178=) c.558C>A (p.Gly186=) n.700C>A | gnomAD v4 |
| 17 | g.76469790C>G | CA502066720 | AANAT | c.444C>G (p.Gly148=) c.579C>G (p.Gly193=) c.*221C>G (n.*221C>G) n.755C>G c.651C>G (p.Gly217=) c.534C>G (p.Gly178=) c.558C>G (p.Gly186=) n.700C>G | gnomAD v4 |
| 17 | g.76469790C>T | CA502066721 | AANAT | c.444C>T (p.Gly148=) c.579C>T (p.Gly193=) c.*221C>T (n.*221C>T) n.755C>T c.651C>T (p.Gly217=) c.534C>T (p.Gly178=) c.558C>T (p.Gly186=) n.700C>T | gnomAD v4 |
| 17 | g.76469791A>C | CA401161342 | AANAT | c.445A>C (p.Ser149Arg) c.580A>C (p.Ser194Arg) c.*222A>C (n.*222A>C) n.756A>C c.652A>C (p.Ser218Arg) c.535A>C (p.Ser179Arg) c.559A>C (p.Ser187Arg) n.701A>C | |
| 17 | g.76469791A>G | CA401161344 | AANAT | c.445A>G (p.Ser149Gly) c.580A>G (p.Ser194Gly) c.*222A>G (n.*222A>G) n.756A>G c.652A>G (p.Ser218Gly) c.535A>G (p.Ser179Gly) c.559A>G (p.Ser187Gly) n.701A>G | gnomAD v4 |
| 17 | g.76469791A>T | CA401161345 | AANAT | c.445A>T (p.Ser149Cys) c.580A>T (p.Ser194Cys) c.*222A>T (n.*222A>T) n.756A>T c.652A>T (p.Ser218Cys) c.535A>T (p.Ser179Cys) c.559A>T (p.Ser187Cys) n.701A>T | |
| 17 | g.76469792G>A | CA401161348 | AANAT | c.446G>A (p.Ser149Asn) c.581G>A (p.Ser194Asn) c.*223G>A (n.*223G>A) n.757G>A c.653G>A (p.Ser218Asn) c.536G>A (p.Ser179Asn) c.560G>A (p.Ser187Asn) n.702G>A | gnomAD v4 |
| 17 | g.76469792G>C | CA401161350 | AANAT | c.446G>C (p.Ser149Thr) c.581G>C (p.Ser194Thr) c.*223G>C (n.*223G>C) n.757G>C c.653G>C (p.Ser218Thr) c.536G>C (p.Ser179Thr) c.560G>C (p.Ser187Thr) n.702G>C | |
| 17 | g.76469792G>T | CA401161352 | AANAT | c.446G>T (p.Ser149Ile) c.581G>T (p.Ser194Ile) c.*223G>T (n.*223G>T) n.757G>T c.653G>T (p.Ser218Ile) c.536G>T (p.Ser179Ile) c.560G>T (p.Ser187Ile) n.702G>T | gnomAD v4 |
| 17 | g.76469793C>A | CA401161354 | AANAT | c.447C>A (p.Ser149Arg) c.582C>A (p.Ser194Arg) c.*224C>A (n.*224C>A) n.758C>A c.654C>A (p.Ser218Arg) c.537C>A (p.Ser179Arg) c.561C>A (p.Ser187Arg) n.703C>A | |
| 17 | g.76469793C>G | CA401161355 | AANAT | c.447C>G (p.Ser149Arg) c.582C>G (p.Ser194Arg) c.*224C>G (n.*224C>G) n.758C>G c.654C>G (p.Ser218Arg) c.537C>G (p.Ser179Arg) c.561C>G (p.Ser187Arg) n.703C>G | |
| 17 | g.76469793C>T | CA502066722 | AANAT | c.447C>T (p.Ser149=) c.582C>T (p.Ser194=) c.*224C>T (n.*224C>T) n.758C>T c.654C>T (p.Ser218=) c.537C>T (p.Ser179=) c.561C>T (p.Ser187=) n.703C>T | gnomAD v4 |
| 17 | g.76469794C>A | CA401161358 | AANAT | c.448C>A (p.Gln150Lys) c.583C>A (p.Gln195Lys) c.*225C>A (n.*225C>A) n.759C>A c.655C>A (p.Gln219Lys) c.538C>A (p.Gln180Lys) c.562C>A (p.Gln188Lys) n.704C>A | gnomAD v4 |
| 17 | g.76469794C>G | CA401161360 | AANAT | c.448C>G (p.Gln150Glu) c.583C>G (p.Gln195Glu) c.*225C>G (n.*225C>G) n.759C>G c.655C>G (p.Gln219Glu) c.538C>G (p.Gln180Glu) c.562C>G (p.Gln188Glu) n.704C>G | |
| 17 | g.76469794C>T | CA401161361 | AANAT | c.448C>T (p.Gln150Ter) c.583C>T (p.Gln195Ter) c.*225C>T (n.*225C>T) n.759C>T c.655C>T (p.Gln219Ter) c.538C>T (p.Gln180Ter) c.562C>T (p.Gln188Ter) n.704C>T | gnomAD v4 |
| 17 | g.76469795A>C | CA401161364 | AANAT | c.449A>C (p.Gln150Pro) c.584A>C (p.Gln195Pro) c.*226A>C (n.*226A>C) n.760A>C c.656A>C (p.Gln219Pro) c.539A>C (p.Gln180Pro) c.563A>C (p.Gln188Pro) n.705A>C | |
| 17 | g.76469795A>G | CA401161366 | AANAT | c.449A>G (p.Gln150Arg) c.584A>G (p.Gln195Arg) c.*226A>G (n.*226A>G) n.760A>G c.656A>G (p.Gln219Arg) c.539A>G (p.Gln180Arg) c.563A>G (p.Gln188Arg) n.705A>G | |
| 17 | g.76469795A>T | CA401161368 | AANAT | c.449A>T (p.Gln150Leu) c.584A>T (p.Gln195Leu) c.*226A>T (n.*226A>T) n.760A>T c.656A>T (p.Gln219Leu) c.539A>T (p.Gln180Leu) c.563A>T (p.Gln188Leu) n.705A>T | |
| 17 | g.76469796G>A | CA502066726 | AANAT | c.450G>A (p.Gln150=) c.585G>A (p.Gln195=) c.*227G>A (n.*227G>A) n.761G>A c.657G>A (p.Gln219=) c.540G>A (p.Gln180=) c.564G>A (p.Gln188=) n.706G>A | gnomAD v4 |
| 17 | g.76469796G>C | CA401161373 | AANAT | c.450G>C (p.Gln150His) c.585G>C (p.Gln195His) c.*227G>C (n.*227G>C) n.761G>C c.657G>C (p.Gln219His) c.540G>C (p.Gln180His) c.564G>C (p.Gln188His) n.706G>C | |
| 17 | g.76469796G>T | CA401161371 | AANAT | c.450G>T (p.Gln150His) c.585G>T (p.Gln195His) c.*227G>T (n.*227G>T) n.761G>T c.657G>T (p.Gln219His) c.540G>T (p.Gln180His) c.564G>T (p.Gln188His) n.706G>T | gnomAD v4 |
| 17 | g.76469797C>A | CA401161375 | AANAT | c.451C>A (p.Pro151Thr) c.586C>A (p.Pro196Thr) c.*228C>A (n.*228C>A) n.762C>A c.658C>A (p.Pro220Thr) c.541C>A (p.Pro181Thr) c.565C>A (p.Pro189Thr) n.707C>A | gnomAD v4 |
| 17 | g.76469797C>G | CA401161377 | AANAT | c.451C>G (p.Pro151Ala) c.586C>G (p.Pro196Ala) c.*228C>G (n.*228C>G) n.762C>G c.658C>G (p.Pro220Ala) c.541C>G (p.Pro181Ala) c.565C>G (p.Pro189Ala) n.707C>G | |
| 17 | g.76469797C>T | CA401161379 | AANAT | c.451C>T (p.Pro151Ser) c.586C>T (p.Pro196Ser) c.*228C>T (n.*228C>T) n.762C>T c.658C>T (p.Pro220Ser) c.541C>T (p.Pro181Ser) c.565C>T (p.Pro189Ser) n.707C>T | gnomAD v4 |
| 17 | g.76469798C>A | CA401161381 | AANAT | c.452C>A (p.Pro151Gln) c.587C>A (p.Pro196Gln) c.*229C>A (n.*229C>A) n.763C>A c.659C>A (p.Pro220Gln) c.542C>A (p.Pro181Gln) c.566C>A (p.Pro189Gln) n.708C>A | gnomAD v4 |
| 17 | g.76469798C= | CA2276011981 | AANAT | c.452C= (p.Pro151=) c.587C= (p.Pro196=) c.*229C= (n.*229C=) n.763C= c.659C= (p.Pro220=) c.542C= (p.Pro181=) c.566C= (p.Pro189=) n.708C= | |
| 17 | g.76469798C>G | CA401161383 | AANAT | c.452C>G (p.Pro151Arg) c.587C>G (p.Pro196Arg) c.*229C>G (n.*229C>G) n.763C>G c.659C>G (p.Pro220Arg) c.542C>G (p.Pro181Arg) c.566C>G (p.Pro189Arg) n.708C>G | |
| 17 | g.76469798C>T | CA8786594 | AANAT | c.452C>T (p.Pro151Leu) c.587C>T (p.Pro196Leu) c.*229C>T (n.*229C>T) n.763C>T c.659C>T (p.Pro220Leu) c.542C>T (p.Pro181Leu) c.566C>T (p.Pro189Leu) n.708C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469799G>A | CA8786595 | AANAT | c.453G>A (p.Pro151=) c.588G>A (p.Pro196=) c.*230G>A (n.*230G>A) n.764G>A c.660G>A (p.Pro220=) c.543G>A (p.Pro181=) c.567G>A (p.Pro189=) n.709G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469799G>C | CA502066732 | AANAT | c.453G>C (p.Pro151=) c.588G>C (p.Pro196=) c.*230G>C (n.*230G>C) n.764G>C c.660G>C (p.Pro220=) c.543G>C (p.Pro181=) c.567G>C (p.Pro189=) n.709G>C | |
| 17 | g.76469799G= | CA2276011982 | AANAT | c.453G= (p.Pro151=) c.588G= (p.Pro196=) c.*230G= (n.*230G=) n.764G= c.660G= (p.Pro220=) c.543G= (p.Pro181=) c.567G= (p.Pro189=) n.709G= | |
| 17 | g.76469799G>T | CA502066733 | AANAT | c.453G>T (p.Pro151=) c.588G>T (p.Pro196=) c.*230G>T (n.*230G>T) n.764G>T c.660G>T (p.Pro220=) c.543G>T (p.Pro181=) c.567G>T (p.Pro189=) n.709G>T | gnomAD v4 |
| 17 | g.76469800G>A | CA401161386 | AANAT | c.454G>A (p.Ala152Thr) c.589G>A (p.Ala197Thr) c.*231G>A (n.*231G>A) n.765G>A c.661G>A (p.Ala221Thr) c.544G>A (p.Ala182Thr) c.568G>A (p.Ala190Thr) n.710G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469800G>C | CA401161391 | AANAT | c.454G>C (p.Ala152Pro) c.589G>C (p.Ala197Pro) c.*231G>C (n.*231G>C) n.765G>C c.661G>C (p.Ala221Pro) c.544G>C (p.Ala182Pro) c.568G>C (p.Ala190Pro) n.710G>C | gnomAD v4 |
| 17 | g.76469800G= | CA2276011983 | AANAT | c.454G= (p.Ala152=) c.589G= (p.Ala197=) c.*231G= (n.*231G=) n.765G= c.661G= (p.Ala221=) c.544G= (p.Ala182=) c.568G= (p.Ala190=) n.710G= | |
| 17 | g.76469800G>T | CA401161388 | AANAT | c.454G>T (p.Ala152Ser) c.589G>T (p.Ala197Ser) c.*231G>T (n.*231G>T) n.765G>T c.661G>T (p.Ala221Ser) c.544G>T (p.Ala182Ser) c.568G>T (p.Ala190Ser) n.710G>T | gnomAD v4 |
| 17 | g.76469801C>A | CA401161393 | AANAT | c.455C>A (p.Ala152Asp) c.590C>A (p.Ala197Asp) c.*232C>A (n.*232C>A) n.766C>A c.662C>A (p.Ala221Asp) c.545C>A (p.Ala182Asp) c.569C>A (p.Ala190Asp) n.711C>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469801C= | CA2276011984 | AANAT | c.455C= (p.Ala152=) c.590C= (p.Ala197=) c.*232C= (n.*232C=) n.766C= c.662C= (p.Ala221=) c.545C= (p.Ala182=) c.569C= (p.Ala190=) n.711C= | |
| 17 | g.76469801C>G | CA401161401 | AANAT | c.455C>G (p.Ala152Gly) c.590C>G (p.Ala197Gly) c.*232C>G (n.*232C>G) n.766C>G c.662C>G (p.Ala221Gly) c.545C>G (p.Ala182Gly) c.569C>G (p.Ala190Gly) n.711C>G | |
| 17 | g.76469801C>T | CA401161403 | AANAT | c.455C>T (p.Ala152Val) c.590C>T (p.Ala197Val) c.*232C>T (n.*232C>T) n.766C>T c.662C>T (p.Ala221Val) c.545C>T (p.Ala182Val) c.569C>T (p.Ala190Val) n.711C>T | gnomAD v4 |
| 17 | g.76469802C>A | CA502066734 | AANAT | c.456C>A (p.Ala152=) c.591C>A (p.Ala197=) c.*233C>A (n.*233C>A) n.767C>A c.663C>A (p.Ala221=) c.546C>A (p.Ala182=) c.570C>A (p.Ala190=) n.712C>A | gnomAD v4 |
| 17 | g.76469802C= | CA2276011985 | AANAT | c.456C= (p.Ala152=) c.591C= (p.Ala197=) c.*233C= (n.*233C=) n.767C= c.663C= (p.Ala221=) c.546C= (p.Ala182=) c.570C= (p.Ala190=) n.712C= | |
| 17 | g.76469802C>G | CA502066736 | AANAT | c.456C>G (p.Ala152=) c.591C>G (p.Ala197=) c.*233C>G (n.*233C>G) n.767C>G c.663C>G (p.Ala221=) c.546C>G (p.Ala182=) c.570C>G (p.Ala190=) n.712C>G | |
| 17 | g.76469802C>T | CA8786596 | AANAT | c.456C>T (p.Ala152=) c.591C>T (p.Ala197=) c.*233C>T (n.*233C>T) n.767C>T c.663C>T (p.Ala221=) c.546C>T (p.Ala182=) c.570C>T (p.Ala190=) n.712C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469803G>A | CA8786598 | AANAT | c.457G>A (p.Val153Met) c.592G>A (p.Val198Met) c.*234G>A (n.*234G>A) n.768G>A c.664G>A (p.Val222Met) c.547G>A (p.Val183Met) c.571G>A (p.Val191Met) n.713G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469803G>C | CA401161408 | AANAT | c.457G>C (p.Val153Leu) c.592G>C (p.Val198Leu) c.*234G>C (n.*234G>C) n.768G>C c.664G>C (p.Val222Leu) c.547G>C (p.Val183Leu) c.571G>C (p.Val191Leu) n.713G>C | |
| 17 | g.76469803G= | CA2276011986 | AANAT | c.457G= (p.Val153=) c.592G= (p.Val198=) c.*234G= (n.*234G=) n.768G= c.664G= (p.Val222=) c.547G= (p.Val183=) c.571G= (p.Val191=) n.713G= | |
| 17 | g.76469803G>T | CA8786597 | AANAT | c.457G>T (p.Val153Leu) c.592G>T (p.Val198Leu) c.*234G>T (n.*234G>T) n.768G>T c.664G>T (p.Val222Leu) c.547G>T (p.Val183Leu) c.571G>T (p.Val191Leu) n.713G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.76469804T>A | CA401161411 | AANAT | c.458T>A (p.Val153Glu) c.593T>A (p.Val198Glu) c.*235T>A (n.*235T>A) n.769T>A c.665T>A (p.Val222Glu) c.548T>A (p.Val183Glu) c.572T>A (p.Val191Glu) n.714T>A | |
| 17 | g.76469804T>C | CA8786599 | AANAT | c.458T>C (p.Val153Ala) c.593T>C (p.Val198Ala) c.*235T>C (n.*235T>C) n.769T>C c.665T>C (p.Val222Ala) c.548T>C (p.Val183Ala) c.572T>C (p.Val191Ala) n.714T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469804T>G | CA401161414 | AANAT | c.458T>G (p.Val153Gly) c.593T>G (p.Val198Gly) c.*235T>G (n.*235T>G) n.769T>G c.665T>G (p.Val222Gly) c.548T>G (p.Val183Gly) c.572T>G (p.Val191Gly) n.714T>G | |
| 17 | g.76469804T= | CA2276011987 | AANAT | c.458T= (p.Val153=) c.593T= (p.Val198=) c.*235T= (n.*235T=) n.769T= c.665T= (p.Val222=) c.548T= (p.Val183=) c.572T= (p.Val191=) n.714T= | |
| 17 | g.76469805G>A | CA502066738 | AANAT | c.459G>A (p.Val153=) c.594G>A (p.Val198=) c.*236G>A (n.*236G>A) n.770G>A c.666G>A (p.Val222=) c.549G>A (p.Val183=) c.573G>A (p.Val191=) n.715G>A | |
| 17 | g.76469805G>C | CA502066739 | AANAT | c.459G>C (p.Val153=) c.594G>C (p.Val198=) c.*236G>C (n.*236G>C) n.770G>C c.666G>C (p.Val222=) c.549G>C (p.Val183=) c.573G>C (p.Val191=) n.715G>C | |
| 17 | g.76469805G>T | CA502066740 | AANAT | c.459G>T (p.Val153=) c.594G>T (p.Val198=) c.*236G>T (n.*236G>T) n.770G>T c.666G>T (p.Val222=) c.549G>T (p.Val183=) c.573G>T (p.Val191=) n.715G>T | |
| 17 | g.76469806C>A | CA401161417 | AANAT | c.460C>A (p.Arg154Ser) c.595C>A (p.Arg199Ser) c.*237C>A (n.*237C>A) n.771C>A c.667C>A (p.Arg223Ser) c.550C>A (p.Arg184Ser) c.574C>A (p.Arg192Ser) n.716C>A | gnomAD v4 |
| 17 | g.76469806C= | CA2276011988 | AANAT | c.460C= (p.Arg154=) c.595C= (p.Arg199=) c.*237C= (n.*237C=) n.771C= c.667C= (p.Arg223=) c.550C= (p.Arg184=) c.574C= (p.Arg192=) n.716C= | |
| 17 | g.76469806C>G | CA401161419 | AANAT | c.460C>G (p.Arg154Gly) c.595C>G (p.Arg199Gly) c.*237C>G (n.*237C>G) n.771C>G c.667C>G (p.Arg223Gly) c.550C>G (p.Arg184Gly) c.574C>G (p.Arg192Gly) n.716C>G | |
| 17 | g.76469806C>T | CA8786600 | AANAT | c.460C>T (p.Arg154Cys) c.595C>T (p.Arg199Cys) c.*237C>T (n.*237C>T) n.771C>T c.667C>T (p.Arg223Cys) c.550C>T (p.Arg184Cys) c.574C>T (p.Arg192Cys) n.716C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469807G>A | CA8786601 | AANAT | c.461G>A (p.Arg154His) c.596G>A (p.Arg199His) c.*238G>A (n.*238G>A) n.772G>A c.668G>A (p.Arg223His) c.551G>A (p.Arg184His) c.575G>A (p.Arg192His) n.717G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469807G>C | CA401161422 | AANAT | c.461G>C (p.Arg154Pro) c.596G>C (p.Arg199Pro) c.*238G>C (n.*238G>C) n.772G>C c.668G>C (p.Arg223Pro) c.551G>C (p.Arg184Pro) c.575G>C (p.Arg192Pro) n.717G>C | gnomAD v4 |
| 17 | g.76469807G= | CA2276011989 | AANAT | c.461G= (p.Arg154=) c.596G= (p.Arg199=) c.*238G= (n.*238G=) n.772G= c.668G= (p.Arg223=) c.551G= (p.Arg184=) c.575G= (p.Arg192=) n.717G= | |
| 17 | g.76469807G>T | CA401161424 | AANAT | c.461G>T (p.Arg154Leu) c.596G>T (p.Arg199Leu) c.*238G>T (n.*238G>T) n.772G>T c.668G>T (p.Arg223Leu) c.551G>T (p.Arg184Leu) c.575G>T (p.Arg192Leu) n.717G>T | gnomAD v4 |
| 17 | g.76469808C>A | CA502066743 | AANAT | c.462C>A (p.Arg154=) c.597C>A (p.Arg199=) c.*239C>A (n.*239C>A) n.773C>A c.669C>A (p.Arg223=) c.552C>A (p.Arg184=) c.576C>A (p.Arg192=) n.718C>A | gnomAD v4 |
| 17 | g.76469808C>G | CA502066744 | AANAT | c.462C>G (p.Arg154=) c.597C>G (p.Arg199=) c.*239C>G (n.*239C>G) n.773C>G c.669C>G (p.Arg223=) c.552C>G (p.Arg184=) c.576C>G (p.Arg192=) n.718C>G | |
| 17 | g.76469808C>T | CA502066745 | AANAT | c.462C>T (p.Arg154=) c.597C>T (p.Arg199=) c.*239C>T (n.*239C>T) n.773C>T c.669C>T (p.Arg223=) c.552C>T (p.Arg184=) c.576C>T (p.Arg192=) n.718C>T | gnomAD v4 |
| 17 | g.76469809C>A | CA502066746 | AANAT | c.463C>A (p.Arg155=) c.598C>A (p.Arg200=) c.*240C>A (n.*240C>A) n.774C>A c.670C>A (p.Arg224=) c.553C>A (p.Arg185=) c.577C>A (p.Arg193=) n.719C>A | gnomAD v4 |
| 17 | g.76469809C= | CA2276011990 | AANAT | c.463C= (p.Arg155=) c.598C= (p.Arg200=) c.*240C= (n.*240C=) n.774C= c.670C= (p.Arg224=) c.553C= (p.Arg185=) c.577C= (p.Arg193=) n.719C= | |
| 17 | g.76469809C>G | CA401161426 | AANAT | c.463C>G (p.Arg155Gly) c.598C>G (p.Arg200Gly) c.*240C>G (n.*240C>G) n.774C>G c.670C>G (p.Arg224Gly) c.553C>G (p.Arg185Gly) c.577C>G (p.Arg193Gly) n.719C>G | |
| 17 | g.76469809C>T | CA8786602 | AANAT | c.463C>T (p.Arg155Trp) c.598C>T (p.Arg200Trp) c.*240C>T (n.*240C>T) n.774C>T c.670C>T (p.Arg224Trp) c.553C>T (p.Arg185Trp) c.577C>T (p.Arg193Trp) n.719C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469810G>A | CA8786603 | AANAT | c.464G>A (p.Arg155Gln) c.599G>A (p.Arg200Gln) c.*241G>A (n.*241G>A) n.775G>A c.671G>A (p.Arg224Gln) c.554G>A (p.Arg185Gln) c.578G>A (p.Arg193Gln) n.720G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469810G>C | CA8786604 | AANAT | c.464G>C (p.Arg155Pro) c.599G>C (p.Arg200Pro) c.*241G>C (n.*241G>C) n.775G>C c.671G>C (p.Arg224Pro) c.554G>C (p.Arg185Pro) c.578G>C (p.Arg193Pro) n.720G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469810G= | CA2276011991 | AANAT | c.464G= (p.Arg155=) c.599G= (p.Arg200=) c.*241G= (n.*241G=) n.775G= c.671G= (p.Arg224=) c.554G= (p.Arg185=) c.578G= (p.Arg193=) n.720G= | |
| 17 | g.76469810G>T | CA401161428 | AANAT | c.464G>T (p.Arg155Leu) c.599G>T (p.Arg200Leu) c.*241G>T (n.*241G>T) n.775G>T c.671G>T (p.Arg224Leu) c.554G>T (p.Arg185Leu) c.578G>T (p.Arg193Leu) n.720G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469812del | CA2639996850 | AANAT | c.466del (p.Ala156ProfsTer?) c.601del (p.Ala201ProfsTer?) c.*243del (n.*243del) n.777del c.673del (p.Ala225ProfsTer?) c.556del (p.Ala186ProfsTer?) c.580del (p.Ala194ProfsTer?) n.722del | gnomAD v4 |
| 17 | g.76469811G>A | CA502066754 | AANAT | c.465G>A (p.Arg155=) c.600G>A (p.Arg200=) c.*242G>A (n.*242G>A) n.776G>A c.672G>A (p.Arg224=) c.555G>A (p.Arg185=) c.579G>A (p.Arg193=) n.721G>A | gnomAD v4 |
| 17 | g.76469811G>C | CA502066750 | AANAT | c.465G>C (p.Arg155=) c.600G>C (p.Arg200=) c.*242G>C (n.*242G>C) n.776G>C c.672G>C (p.Arg224=) c.555G>C (p.Arg185=) c.579G>C (p.Arg193=) n.721G>C | |
| 17 | g.76469811G>T | CA502066752 | AANAT | c.465G>T (p.Arg155=) c.600G>T (p.Arg200=) c.*242G>T (n.*242G>T) n.776G>T c.672G>T (p.Arg224=) c.555G>T (p.Arg185=) c.579G>T (p.Arg193=) n.721G>T | |
| 17 | g.76469812G>A | CA401161432 | AANAT | c.466G>A (p.Ala156Thr) c.601G>A (p.Ala201Thr) c.*243G>A (n.*243G>A) n.777G>A c.673G>A (p.Ala225Thr) c.556G>A (p.Ala186Thr) c.580G>A (p.Ala194Thr) n.722G>A | dbSNP gnomAD v4 |
| 17 | g.76469812G>C | CA401161434 | AANAT | c.466G>C (p.Ala156Pro) c.601G>C (p.Ala201Pro) c.*243G>C (n.*243G>C) n.777G>C c.673G>C (p.Ala225Pro) c.556G>C (p.Ala186Pro) c.580G>C (p.Ala194Pro) n.722G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469812G= | CA2276011992 | AANAT | c.466G= (p.Ala156=) c.601G= (p.Ala201=) c.*243G= (n.*243G=) n.777G= c.673G= (p.Ala225=) c.556G= (p.Ala186=) c.580G= (p.Ala194=) n.722G= | |
| 17 | g.76469812G>T | CA401161436 | AANAT | c.466G>T (p.Ala156Ser) c.601G>T (p.Ala201Ser) c.*243G>T (n.*243G>T) n.777G>T c.673G>T (p.Ala225Ser) c.556G>T (p.Ala186Ser) c.580G>T (p.Ala194Ser) n.722G>T | |
| 17 | g.76469813C>A | CA401161438 | AANAT | c.467C>A (p.Ala156Asp) c.602C>A (p.Ala201Asp) c.*244C>A (n.*244C>A) n.778C>A c.674C>A (p.Ala225Asp) c.557C>A (p.Ala186Asp) c.581C>A (p.Ala194Asp) n.723C>A | |
| 17 | g.76469813C= | CA2276011993 | AANAT | c.467C= (p.Ala156=) c.602C= (p.Ala201=) c.*244C= (n.*244C=) n.778C= c.674C= (p.Ala225=) c.557C= (p.Ala186=) c.581C= (p.Ala194=) n.723C= | |
| 17 | g.76469813C>G | CA401161441 | AANAT | c.467C>G (p.Ala156Gly) c.602C>G (p.Ala201Gly) c.*244C>G (n.*244C>G) n.778C>G c.674C>G (p.Ala225Gly) c.557C>G (p.Ala186Gly) c.581C>G (p.Ala194Gly) n.723C>G | gnomAD v4 |
| 17 | g.76469813C>T | CA401161442 | AANAT | c.467C>T (p.Ala156Val) c.602C>T (p.Ala201Val) c.*244C>T (n.*244C>T) n.778C>T c.674C>T (p.Ala225Val) c.557C>T (p.Ala186Val) c.581C>T (p.Ala194Val) n.723C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469814C>A | CA502066756 | AANAT | c.468C>A (p.Ala156=) c.603C>A (p.Ala201=) c.*245C>A (n.*245C>A) n.779C>A c.675C>A (p.Ala225=) c.558C>A (p.Ala186=) c.582C>A (p.Ala194=) n.724C>A | gnomAD v4 |
| 17 | g.76469814C= | CA2276011994 | AANAT | c.468C= (p.Ala156=) c.603C= (p.Ala201=) c.*245C= (n.*245C=) n.779C= c.675C= (p.Ala225=) c.558C= (p.Ala186=) c.582C= (p.Ala194=) n.724C= | |
| 17 | g.76469814C>G | CA502066757 | AANAT | c.468C>G (p.Ala156=) c.603C>G (p.Ala201=) c.*245C>G (n.*245C>G) n.779C>G c.675C>G (p.Ala225=) c.558C>G (p.Ala186=) c.582C>G (p.Ala194=) n.724C>G | |
| 17 | g.76469814C>T | CA8786605 | AANAT | c.468C>T (p.Ala156=) c.603C>T (p.Ala201=) c.*245C>T (n.*245C>T) n.779C>T c.675C>T (p.Ala225=) c.558C>T (p.Ala186=) c.582C>T (p.Ala194=) n.724C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469815G>A | CA8786606 | AANAT | c.469G>A (p.Ala157Thr) c.604G>A (p.Ala202Thr) c.*246G>A (n.*246G>A) n.780G>A c.676G>A (p.Ala226Thr) c.559G>A (p.Ala187Thr) c.583G>A (p.Ala195Thr) n.725G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.76469815G>C | CA401161446 | AANAT | c.469G>C (p.Ala157Pro) c.604G>C (p.Ala202Pro) c.*246G>C (n.*246G>C) n.780G>C c.676G>C (p.Ala226Pro) c.559G>C (p.Ala187Pro) c.583G>C (p.Ala195Pro) n.725G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469815G= | CA2276011995 | AANAT | c.469G= (p.Ala157=) c.604G= (p.Ala202=) c.*246G= (n.*246G=) n.780G= c.676G= (p.Ala226=) c.559G= (p.Ala187=) c.583G= (p.Ala195=) n.725G= | |
| 17 | g.76469815G>T | CA401161448 | AANAT | c.469G>T (p.Ala157Ser) c.604G>T (p.Ala202Ser) c.*246G>T (n.*246G>T) n.780G>T c.676G>T (p.Ala226Ser) c.559G>T (p.Ala187Ser) c.583G>T (p.Ala195Ser) n.725G>T | gnomAD v4 |
| 17 | g.76469816C>A | CA401161450 | AANAT | c.470C>A (p.Ala157Glu) c.605C>A (p.Ala202Glu) c.*247C>A (n.*247C>A) n.781C>A c.677C>A (p.Ala226Glu) c.560C>A (p.Ala187Glu) c.584C>A (p.Ala195Glu) n.726C>A | gnomAD v4 |
| 17 | g.76469816C= | CA2276011996 | AANAT | c.470C= (p.Ala157=) c.605C= (p.Ala202=) c.*247C= (n.*247C=) n.781C= c.677C= (p.Ala226=) c.560C= (p.Ala187=) c.584C= (p.Ala195=) n.726C= | |
| 17 | g.76469816C>G | CA401161452 | AANAT | c.470C>G (p.Ala157Gly) c.605C>G (p.Ala202Gly) c.*247C>G (n.*247C>G) n.781C>G c.677C>G (p.Ala226Gly) c.560C>G (p.Ala187Gly) c.584C>G (p.Ala195Gly) n.726C>G | |
| 17 | g.76469816C>T | CA8786607 | AANAT | c.470C>T (p.Ala157Val) c.605C>T (p.Ala202Val) c.*247C>T (n.*247C>T) n.781C>T c.677C>T (p.Ala226Val) c.560C>T (p.Ala187Val) c.584C>T (p.Ala195Val) n.726C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469817G>A | CA8786608 | AANAT | c.471G>A (p.Ala157=) c.606G>A (p.Ala202=) c.*248G>A (n.*248G>A) n.782G>A c.678G>A (p.Ala226=) c.561G>A (p.Ala187=) c.585G>A (p.Ala195=) n.727G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469817G>C | CA502066761 | AANAT | c.471G>C (p.Ala157=) c.606G>C (p.Ala202=) c.*248G>C (n.*248G>C) n.782G>C c.678G>C (p.Ala226=) c.561G>C (p.Ala187=) c.585G>C (p.Ala195=) n.727G>C | |
| 17 | g.76469817G= | CA2276011997 | AANAT | c.471G= (p.Ala157=) c.606G= (p.Ala202=) c.*248G= (n.*248G=) n.782G= c.678G= (p.Ala226=) c.561G= (p.Ala187=) c.585G= (p.Ala195=) n.727G= | |
| 17 | g.76469817G>T | CA502066760 | AANAT | c.471G>T (p.Ala157=) c.606G>T (p.Ala202=) c.*248G>T (n.*248G>T) n.782G>T c.678G>T (p.Ala226=) c.561G>T (p.Ala187=) c.585G>T (p.Ala195=) n.727G>T | gnomAD v4 |
| 17 | g.76469818C>A | CA8786609 | AANAT | c.472C>A (p.Leu158Ile) c.607C>A (p.Leu203Ile) c.*249C>A (n.*249C>A) n.783C>A c.679C>A (p.Leu227Ile) c.562C>A (p.Leu188Ile) c.586C>A (p.Leu196Ile) n.728C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469818C= | CA2276011998 | AANAT | c.472C= (p.Leu158=) c.607C= (p.Leu203=) c.*249C= (n.*249C=) n.783C= c.679C= (p.Leu227=) c.562C= (p.Leu188=) c.586C= (p.Leu196=) n.728C= | |
| 17 | g.76469818C>G | CA401161457 | AANAT | c.472C>G (p.Leu158Val) c.607C>G (p.Leu203Val) c.*249C>G (n.*249C>G) n.783C>G c.679C>G (p.Leu227Val) c.562C>G (p.Leu188Val) c.586C>G (p.Leu196Val) n.728C>G | |
| 17 | g.76469818C>T | CA401161460 | AANAT | c.472C>T (p.Leu158Phe) c.607C>T (p.Leu203Phe) c.*249C>T (n.*249C>T) n.783C>T c.679C>T (p.Leu227Phe) c.562C>T (p.Leu188Phe) c.586C>T (p.Leu196Phe) n.728C>T | gnomAD v4 |
| 17 | g.76469819T>A | CA401161463 | AANAT | c.473T>A (p.Leu158His) c.608T>A (p.Leu203His) c.*250T>A (n.*250T>A) n.784T>A c.680T>A (p.Leu227His) c.563T>A (p.Leu188His) c.587T>A (p.Leu196His) n.729T>A | |
| 17 | g.76469819T>C | CA401161465 | AANAT | c.473T>C (p.Leu158Pro) c.608T>C (p.Leu203Pro) c.*250T>C (n.*250T>C) n.784T>C c.680T>C (p.Leu227Pro) c.563T>C (p.Leu188Pro) c.587T>C (p.Leu196Pro) n.729T>C | |
| 17 | g.76469819T>G | CA401161467 | AANAT | c.473T>G (p.Leu158Arg) c.608T>G (p.Leu203Arg) c.*250T>G (n.*250T>G) n.784T>G c.680T>G (p.Leu227Arg) c.563T>G (p.Leu188Arg) c.587T>G (p.Leu196Arg) n.729T>G | |
| 17 | g.76469820C>A | CA502066768 | AANAT | c.474C>A (p.Leu158=) c.609C>A (p.Leu203=) c.*251C>A (n.*251C>A) n.785C>A c.681C>A (p.Leu227=) c.564C>A (p.Leu188=) c.588C>A (p.Leu196=) n.730C>A | gnomAD v4 |
| 17 | g.76469820C= | CA2276011999 | AANAT | c.474C= (p.Leu158=) c.609C= (p.Leu203=) c.*251C= (n.*251C=) n.785C= c.681C= (p.Leu227=) c.564C= (p.Leu188=) c.588C= (p.Leu196=) n.730C= | |
| 17 | g.76469820C>G | CA8786610 | AANAT | c.474C>G (p.Leu158=) c.609C>G (p.Leu203=) c.*251C>G (n.*251C>G) n.785C>G c.681C>G (p.Leu227=) c.564C>G (p.Leu188=) c.588C>G (p.Leu196=) n.730C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469820C>T | CA502066770 | AANAT | c.474C>T (p.Leu158=) c.609C>T (p.Leu203=) c.*251C>T (n.*251C>T) n.785C>T c.681C>T (p.Leu227=) c.564C>T (p.Leu188=) c.588C>T (p.Leu196=) n.730C>T | gnomAD v2 gnomAD v4 |
| 17 | g.76469820_76469822delinsCAT | CA2276012000 | AANAT | c.474_476delinsCAT (p.Leu158=) c.609_611delinsCAT (p.Leu203=) c.*251_*253delinsCAT (n.*251_*253delinsCAT) n.785_787delinsCAT c.681_683delinsCAT (p.Leu227=) c.564_566delinsCAT (p.Leu188=) c.588_590delinsCAT (p.Leu196=) n.730_732delinsCAT | |
| 17 | g.76469821A>C | CA401161470 | AANAT | c.475A>C (p.Met159Leu) c.610A>C (p.Met204Leu) c.*252A>C (n.*252A>C) n.786A>C c.682A>C (p.Met228Leu) c.565A>C (p.Met189Leu) c.589A>C (p.Met197Leu) n.731A>C | |
| 17 | g.76469821A>G | CA401161472 | AANAT | c.475A>G (p.Met159Val) c.610A>G (p.Met204Val) c.*252A>G (n.*252A>G) n.786A>G c.682A>G (p.Met228Val) c.565A>G (p.Met189Val) c.589A>G (p.Met197Val) n.731A>G | gnomAD v4 |
| 17 | g.76469821A>T | CA401161474 | AANAT | c.475A>T (p.Met159Leu) c.610A>T (p.Met204Leu) c.*252A>T (n.*252A>T) n.786A>T c.682A>T (p.Met228Leu) c.565A>T (p.Met189Leu) c.589A>T (p.Met197Leu) n.731A>T | |
| 17 | g.76469821_76469822del | CA775161830 | AANAT | c.475_476del (p.Met159ValfsTer10) c.610_611del (p.Met204ValfsTer10) c.*252_*253del (n.*252_*253del) n.786_787del c.682_683del (p.Met228ValfsTer10) c.565_566del (p.Met189ValfsTer10) c.589_590del (p.Met197ValfsTer10) n.731_732del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469822T>A | CA401161476 | AANAT | c.476T>A (p.Met159Lys) c.611T>A (p.Met204Lys) c.*253T>A (n.*253T>A) n.787T>A c.683T>A (p.Met228Lys) c.566T>A (p.Met189Lys) c.590T>A (p.Met197Lys) n.732T>A | |
| 17 | g.76469822T>C | CA294178332 | AANAT | c.476T>C (p.Met159Thr) c.611T>C (p.Met204Thr) c.*253T>C (n.*253T>C) n.787T>C c.683T>C (p.Met228Thr) c.566T>C (p.Met189Thr) c.590T>C (p.Met197Thr) n.732T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469822T>G | CA401161479 | AANAT | c.476T>G (p.Met159Arg) c.611T>G (p.Met204Arg) c.*253T>G (n.*253T>G) n.787T>G c.683T>G (p.Met228Arg) c.566T>G (p.Met189Arg) c.590T>G (p.Met197Arg) n.732T>G | |
| 17 | g.76469822T= | CA2276012001 | AANAT | c.476T= (p.Met159=) c.611T= (p.Met204=) c.*253T= (n.*253T=) n.787T= c.683T= (p.Met228=) c.566T= (p.Met189=) c.590T= (p.Met197=) n.732T= | |
| 17 | g.76469823G>A | CA401161481 | AANAT | c.477G>A (p.Met159Ile) c.612G>A (p.Met204Ile) c.*254G>A (n.*254G>A) n.788G>A c.684G>A (p.Met228Ile) c.567G>A (p.Met189Ile) c.591G>A (p.Met197Ile) n.733G>A | dbSNP gnomAD v4 |
| 17 | g.76469823G>C | CA401161483 | AANAT | c.477G>C (p.Met159Ile) c.612G>C (p.Met204Ile) c.*254G>C (n.*254G>C) n.788G>C c.684G>C (p.Met228Ile) c.567G>C (p.Met189Ile) c.591G>C (p.Met197Ile) n.733G>C | |
| 17 | g.76469823G= | CA2276012002 | AANAT | c.477G= (p.Met159=) c.612G= (p.Met204=) c.*254G= (n.*254G=) n.788G= c.684G= (p.Met228=) c.567G= (p.Met189=) c.591G= (p.Met197=) n.733G= | |
| 17 | g.76469823G>T | CA401161485 | AANAT | c.477G>T (p.Met159Ile) c.612G>T (p.Met204Ile) c.*254G>T (n.*254G>T) n.788G>T c.684G>T (p.Met228Ile) c.567G>T (p.Met189Ile) c.591G>T (p.Met197Ile) n.733G>T | gnomAD v4 |
| 17 | g.76469824T>A | CA401161491 | AANAT | c.478T>A (p.Cys160Ser) c.613T>A (p.Cys205Ser) c.*255T>A (n.*255T>A) n.789T>A c.685T>A (p.Cys229Ser) c.568T>A (p.Cys190Ser) c.592T>A (p.Cys198Ser) n.734T>A | gnomAD v4 |
| 17 | g.76469824T>C | CA401161487 | AANAT | c.478T>C (p.Cys160Arg) c.613T>C (p.Cys205Arg) c.*255T>C (n.*255T>C) n.789T>C c.685T>C (p.Cys229Arg) c.568T>C (p.Cys190Arg) c.592T>C (p.Cys198Arg) n.734T>C | gnomAD v4 |
| 17 | g.76469824T>G | CA401161489 | AANAT | c.478T>G (p.Cys160Gly) c.613T>G (p.Cys205Gly) c.*255T>G (n.*255T>G) n.789T>G c.685T>G (p.Cys229Gly) c.568T>G (p.Cys190Gly) c.592T>G (p.Cys198Gly) n.734T>G | |
| 17 | g.76469825G>A | CA401161493 | AANAT | c.479G>A (p.Cys160Tyr) c.614G>A (p.Cys205Tyr) c.*256G>A (n.*256G>A) n.790G>A c.686G>A (p.Cys229Tyr) c.569G>A (p.Cys190Tyr) c.593G>A (p.Cys198Tyr) n.735G>A | |
| 17 | g.76469825G>C | CA401161495 | AANAT | c.479G>C (p.Cys160Ser) c.614G>C (p.Cys205Ser) c.*256G>C (n.*256G>C) n.790G>C c.686G>C (p.Cys229Ser) c.569G>C (p.Cys190Ser) c.593G>C (p.Cys198Ser) n.735G>C | |
| 17 | g.76469825G>T | CA401161497 | AANAT | c.479G>T (p.Cys160Phe) c.614G>T (p.Cys205Phe) c.*256G>T (n.*256G>T) n.790G>T c.686G>T (p.Cys229Phe) c.569G>T (p.Cys190Phe) c.593G>T (p.Cys198Phe) n.735G>T | gnomAD v4 |
| 17 | g.76469826C>A | CA401161502 | AANAT | c.480C>A (p.Cys160Ter) c.615C>A (p.Cys205Ter) c.*257C>A (n.*257C>A) n.791C>A c.687C>A (p.Cys229Ter) c.570C>A (p.Cys190Ter) c.594C>A (p.Cys198Ter) n.736C>A | |
| 17 | g.76469826C= | CA2276012003 | AANAT | c.480C= (p.Cys160=) c.615C= (p.Cys205=) c.*257C= (n.*257C=) n.791C= c.687C= (p.Cys229=) c.570C= (p.Cys190=) c.594C= (p.Cys198=) n.736C= | |
| 17 | g.76469826C>G | CA401161504 | AANAT | c.480C>G (p.Cys160Trp) c.615C>G (p.Cys205Trp) c.*257C>G (n.*257C>G) n.791C>G c.687C>G (p.Cys229Trp) c.570C>G (p.Cys190Trp) c.594C>G (p.Cys198Trp) n.736C>G | gnomAD v4 |
| 17 | g.76469826C>T | CA8786611 | AANAT | c.480C>T (p.Cys160=) c.615C>T (p.Cys205=) c.*257C>T (n.*257C>T) n.791C>T c.687C>T (p.Cys229=) c.570C>T (p.Cys190=) c.594C>T (p.Cys198=) n.736C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469827G>A | CA8786612 | AANAT | c.481G>A (p.Glu161Lys) c.616G>A (p.Glu206Lys) c.*258G>A (n.*258G>A) n.792G>A c.688G>A (p.Glu230Lys) c.571G>A (p.Glu191Lys) c.595G>A (p.Glu199Lys) n.737G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469827G>C | CA401161507 | AANAT | c.481G>C (p.Glu161Gln) c.616G>C (p.Glu206Gln) c.*258G>C (n.*258G>C) n.792G>C c.688G>C (p.Glu230Gln) c.571G>C (p.Glu191Gln) c.595G>C (p.Glu199Gln) n.737G>C | gnomAD v4 |
| 17 | g.76469827G= | CA2276012004 | AANAT | c.481G= (p.Glu161=) c.616G= (p.Glu206=) c.*258G= (n.*258G=) n.792G= c.688G= (p.Glu230=) c.571G= (p.Glu191=) c.595G= (p.Glu199=) n.737G= | |
| 17 | g.76469827G>T | CA401161509 | AANAT | c.481G>T (p.Glu161Ter) c.616G>T (p.Glu206Ter) c.*258G>T (n.*258G>T) n.792G>T c.688G>T (p.Glu230Ter) c.571G>T (p.Glu191Ter) c.595G>T (p.Glu199Ter) n.737G>T | gnomAD v4 |
| 17 | g.76469828A>C | CA401161511 | AANAT | c.482A>C (p.Glu161Ala) c.617A>C (p.Glu206Ala) c.*259A>C (n.*259A>C) n.793A>C c.689A>C (p.Glu230Ala) c.572A>C (p.Glu191Ala) c.596A>C (p.Glu199Ala) n.738A>C | |
| 17 | g.76469828A>G | CA401161513 | AANAT | c.482A>G (p.Glu161Gly) c.617A>G (p.Glu206Gly) c.*259A>G (n.*259A>G) n.793A>G c.689A>G (p.Glu230Gly) c.572A>G (p.Glu191Gly) c.596A>G (p.Glu199Gly) n.738A>G | |
| 17 | g.76469828A>T | CA401161515 | AANAT | c.482A>T (p.Glu161Val) c.617A>T (p.Glu206Val) c.*259A>T (n.*259A>T) n.793A>T c.689A>T (p.Glu230Val) c.572A>T (p.Glu191Val) c.596A>T (p.Glu199Val) n.738A>T | |
| 17 | g.76469829G>A | CA502066781 | AANAT | c.483G>A (p.Glu161=) c.618G>A (p.Glu206=) c.*260G>A (n.*260G>A) n.794G>A c.690G>A (p.Glu230=) c.573G>A (p.Glu191=) c.597G>A (p.Glu199=) n.739G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469829G>C | CA401161518 | AANAT | c.483G>C (p.Glu161Asp) c.618G>C (p.Glu206Asp) c.*260G>C (n.*260G>C) n.794G>C c.690G>C (p.Glu230Asp) c.573G>C (p.Glu191Asp) c.597G>C (p.Glu199Asp) n.739G>C | |
| 17 | g.76469829G= | CA2276012005 | AANAT | c.483G= (p.Glu161=) c.618G= (p.Glu206=) c.*260G= (n.*260G=) n.794G= c.690G= (p.Glu230=) c.573G= (p.Glu191=) c.597G= (p.Glu199=) n.739G= | |
| 17 | g.76469829G>T | CA294178336 | AANAT | c.483G>T (p.Glu161Asp) c.618G>T (p.Glu206Asp) c.*260G>T (n.*260G>T) n.794G>T c.690G>T (p.Glu230Asp) c.573G>T (p.Glu191Asp) c.597G>T (p.Glu199Asp) n.739G>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469830G>A | CA8786613 | AANAT | c.484G>A (p.Asp162Asn) c.619G>A (p.Asp207Asn) c.*261G>A (n.*261G>A) n.795G>A c.691G>A (p.Asp231Asn) c.574G>A (p.Asp192Asn) c.598G>A (p.Asp200Asn) n.740G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469830G>C | CA401161521 | AANAT | c.484G>C (p.Asp162His) c.619G>C (p.Asp207His) c.*261G>C (n.*261G>C) n.795G>C c.691G>C (p.Asp231His) c.574G>C (p.Asp192His) c.598G>C (p.Asp200His) n.740G>C | |
| 17 | g.76469830G= | CA2276012006 | AANAT | c.484G= (p.Asp162=) c.619G= (p.Asp207=) c.*261G= (n.*261G=) n.795G= c.691G= (p.Asp231=) c.574G= (p.Asp192=) c.598G= (p.Asp200=) n.740G= | |
| 17 | g.76469830G>T | CA401161523 | AANAT | c.484G>T (p.Asp162Tyr) c.619G>T (p.Asp207Tyr) c.*261G>T (n.*261G>T) n.795G>T c.691G>T (p.Asp231Tyr) c.574G>T (p.Asp192Tyr) c.598G>T (p.Asp200Tyr) n.740G>T | gnomAD v4 |
| 17 | g.76469831A>C | CA401161526 | AANAT | c.485A>C (p.Asp162Ala) c.620A>C (p.Asp207Ala) c.*262A>C (n.*262A>C) n.796A>C c.692A>C (p.Asp231Ala) c.575A>C (p.Asp192Ala) c.599A>C (p.Asp200Ala) n.741A>C | |
| 17 | g.76469831A>G | CA401161527 | AANAT | c.485A>G (p.Asp162Gly) c.620A>G (p.Asp207Gly) c.*262A>G (n.*262A>G) n.796A>G c.692A>G (p.Asp231Gly) c.575A>G (p.Asp192Gly) c.599A>G (p.Asp200Gly) n.741A>G | |
| 17 | g.76469831A>T | CA401161529 | AANAT | c.485A>T (p.Asp162Val) c.620A>T (p.Asp207Val) c.*262A>T (n.*262A>T) n.796A>T c.692A>T (p.Asp231Val) c.575A>T (p.Asp192Val) c.599A>T (p.Asp200Val) n.741A>T | |
| 17 | g.76469832C>A | CA401161533 | AANAT | c.486C>A (p.Asp162Glu) c.621C>A (p.Asp207Glu) c.*263C>A (n.*263C>A) n.797C>A c.693C>A (p.Asp231Glu) c.576C>A (p.Asp192Glu) c.600C>A (p.Asp200Glu) n.742C>A | gnomAD v4 |
| 17 | g.76469832C= | CA2276012007 | AANAT | c.486C= (p.Asp162=) c.621C= (p.Asp207=) c.*263C= (n.*263C=) n.797C= c.693C= (p.Asp231=) c.576C= (p.Asp192=) c.600C= (p.Asp200=) n.742C= | |
| 17 | g.76469832C>G | CA401161535 | AANAT | c.486C>G (p.Asp162Glu) c.621C>G (p.Asp207Glu) c.*263C>G (n.*263C>G) n.797C>G c.693C>G (p.Asp231Glu) c.576C>G (p.Asp192Glu) c.600C>G (p.Asp200Glu) n.742C>G | |
| 17 | g.76469832C>T | CA8786614 | AANAT | c.486C>T (p.Asp162=) c.621C>T (p.Asp207=) c.*263C>T (n.*263C>T) n.797C>T c.693C>T (p.Asp231=) c.576C>T (p.Asp192=) c.600C>T (p.Asp200=) n.742C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469833G>A | CA8786615 | AANAT | c.487G>A (p.Ala163Thr) c.622G>A (p.Ala208Thr) c.*264G>A (n.*264G>A) n.798G>A c.694G>A (p.Ala232Thr) c.577G>A (p.Ala193Thr) c.601G>A (p.Ala201Thr) n.743G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469833G>C | CA8786616 | AANAT | c.487G>C (p.Ala163Pro) c.622G>C (p.Ala208Pro) c.*264G>C (n.*264G>C) n.798G>C c.694G>C (p.Ala232Pro) c.577G>C (p.Ala193Pro) c.601G>C (p.Ala201Pro) n.743G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469833G= | CA2276012008 | AANAT | c.487G= (p.Ala163=) c.622G= (p.Ala208=) c.*264G= (n.*264G=) n.798G= c.694G= (p.Ala232=) c.577G= (p.Ala193=) c.601G= (p.Ala201=) n.743G= | |
| 17 | g.76469833G>T | CA401161540 | AANAT | c.487G>T (p.Ala163Ser) c.622G>T (p.Ala208Ser) c.*264G>T (n.*264G>T) n.798G>T c.694G>T (p.Ala232Ser) c.577G>T (p.Ala193Ser) c.601G>T (p.Ala201Ser) n.743G>T | gnomAD v4 |
| 17 | g.76469834C>A | CA401161543 | AANAT | c.488C>A (p.Ala163Glu) c.623C>A (p.Ala208Glu) c.*265C>A (n.*265C>A) n.799C>A c.695C>A (p.Ala232Glu) c.578C>A (p.Ala193Glu) c.602C>A (p.Ala201Glu) n.744C>A | gnomAD v4 |
| 17 | g.76469834C= | CA2276012009 | AANAT | c.488C= (p.Ala163=) c.623C= (p.Ala208=) c.*265C= (n.*265C=) n.799C= c.695C= (p.Ala232=) c.578C= (p.Ala193=) c.602C= (p.Ala201=) n.744C= | |
| 17 | g.76469834C>G | CA401161544 | AANAT | c.488C>G (p.Ala163Gly) c.623C>G (p.Ala208Gly) c.*265C>G (n.*265C>G) n.799C>G c.695C>G (p.Ala232Gly) c.578C>G (p.Ala193Gly) c.602C>G (p.Ala201Gly) n.744C>G | |
| 17 | g.76469834C>T | CA8786617 | AANAT | c.488C>T (p.Ala163Val) c.623C>T (p.Ala208Val) c.*265C>T (n.*265C>T) n.799C>T c.695C>T (p.Ala232Val) c.578C>T (p.Ala193Val) c.602C>T (p.Ala201Val) n.744C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469835G>A | CA8786618 | AANAT | c.489G>A (p.Ala163=) c.624G>A (p.Ala208=) c.*266G>A (n.*266G>A) n.800G>A c.696G>A (p.Ala232=) c.579G>A (p.Ala193=) c.603G>A (p.Ala201=) n.745G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469835G>C | CA502066787 | AANAT | c.489G>C (p.Ala163=) c.624G>C (p.Ala208=) c.*266G>C (n.*266G>C) n.800G>C c.696G>C (p.Ala232=) c.579G>C (p.Ala193=) c.603G>C (p.Ala201=) n.745G>C | |
| 17 | g.76469835G= | CA2276012010 | AANAT | c.489G= (p.Ala163=) c.624G= (p.Ala208=) c.*266G= (n.*266G=) n.800G= c.696G= (p.Ala232=) c.579G= (p.Ala193=) c.603G= (p.Ala201=) n.745G= | |
| 17 | g.76469835G>T | CA502066788 | AANAT | c.489G>T (p.Ala163=) c.624G>T (p.Ala208=) c.*266G>T (n.*266G>T) n.800G>T c.696G>T (p.Ala232=) c.579G>T (p.Ala193=) c.603G>T (p.Ala201=) n.745G>T | gnomAD v4 |
| 17 | g.76469836C>A | CA401161546 | AANAT | c.490C>A (p.Leu164Met) c.625C>A (p.Leu209Met) c.*267C>A (n.*267C>A) n.801C>A c.697C>A (p.Leu233Met) c.580C>A (p.Leu194Met) c.604C>A (p.Leu202Met) n.746C>A | |
| 17 | g.76469836C>G | CA401161547 | AANAT | c.490C>G (p.Leu164Val) c.625C>G (p.Leu209Val) c.*267C>G (n.*267C>G) n.801C>G c.697C>G (p.Leu233Val) c.580C>G (p.Leu194Val) c.604C>G (p.Leu202Val) n.746C>G | |
| 17 | g.76469836C>T | CA502066789 | AANAT | c.490C>T (p.Leu164=) c.625C>T (p.Leu209=) c.*267C>T (n.*267C>T) n.801C>T c.697C>T (p.Leu233=) c.580C>T (p.Leu194=) c.604C>T (p.Leu202=) n.746C>T | |
| 17 | g.76469837T>A | CA401161549 | AANAT | c.491T>A (p.Leu164Gln) c.626T>A (p.Leu209Gln) c.*268T>A (n.*268T>A) n.802T>A c.698T>A (p.Leu233Gln) c.581T>A (p.Leu194Gln) c.605T>A (p.Leu202Gln) n.747T>A | |
| 17 | g.76469837T>C | CA401161551 | AANAT | c.491T>C (p.Leu164Pro) c.626T>C (p.Leu209Pro) c.*268T>C (n.*268T>C) n.802T>C c.698T>C (p.Leu233Pro) c.581T>C (p.Leu194Pro) c.605T>C (p.Leu202Pro) n.747T>C | dbSNP gnomAD v4 |
| 17 | g.76469837T>G | CA401161552 | AANAT | c.491T>G (p.Leu164Arg) c.626T>G (p.Leu209Arg) c.*268T>G (n.*268T>G) n.802T>G c.698T>G (p.Leu233Arg) c.581T>G (p.Leu194Arg) c.605T>G (p.Leu202Arg) n.747T>G | |
| 17 | g.76469837T= | CA2276012011 | AANAT | c.491T= (p.Leu164=) c.626T= (p.Leu209=) c.*268T= (n.*268T=) n.802T= c.698T= (p.Leu233=) c.581T= (p.Leu194=) c.605T= (p.Leu202=) n.747T= | |
| 17 | g.76469838G>A | CA502066790 | AANAT | c.492G>A (p.Leu164=) c.627G>A (p.Leu209=) c.*269G>A (n.*269G>A) n.803G>A c.699G>A (p.Leu233=) c.582G>A (p.Leu194=) c.606G>A (p.Leu202=) n.748G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469838G>C | CA8786619 | AANAT | c.492G>C (p.Leu164=) c.627G>C (p.Leu209=) c.*269G>C (n.*269G>C) n.803G>C c.699G>C (p.Leu233=) c.582G>C (p.Leu194=) c.606G>C (p.Leu202=) n.748G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469838G= | CA2276012012 | AANAT | c.492G= (p.Leu164=) c.627G= (p.Leu209=) c.*269G= (n.*269G=) n.803G= c.699G= (p.Leu233=) c.582G= (p.Leu194=) c.606G= (p.Leu202=) n.748G= | |
| 17 | g.76469838G>T | CA502066793 | AANAT | c.492G>T (p.Leu164=) c.627G>T (p.Leu209=) c.*269G>T (n.*269G>T) n.803G>T c.699G>T (p.Leu233=) c.582G>T (p.Leu194=) c.606G>T (p.Leu202=) n.748G>T | gnomAD v4 |
| 17 | g.76469839G>A | CA8786621 | AANAT | c.493G>A (p.Val165Ile) c.628G>A (p.Val210Ile) c.*270G>A (n.*270G>A) n.804G>A c.700G>A (p.Val234Ile) c.583G>A (p.Val195Ile) c.607G>A (p.Val203Ile) n.749G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469839G>C | CA401161559 | AANAT | c.493G>C (p.Val165Leu) c.628G>C (p.Val210Leu) c.*270G>C (n.*270G>C) n.804G>C c.700G>C (p.Val234Leu) c.583G>C (p.Val195Leu) c.607G>C (p.Val203Leu) n.749G>C | |
| 17 | g.76469839G= | CA2276012013 | AANAT | c.493G= (p.Val165=) c.628G= (p.Val210=) c.*270G= (n.*270G=) n.804G= c.700G= (p.Val234=) c.583G= (p.Val195=) c.607G= (p.Val203=) n.749G= | |
| 17 | g.76469839G>T | CA8786620 | AANAT | c.493G>T (p.Val165Leu) c.628G>T (p.Val210Leu) c.*270G>T (n.*270G>T) n.804G>T c.700G>T (p.Val234Leu) c.583G>T (p.Val195Leu) c.607G>T (p.Val203Leu) n.749G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469840T>A | CA401161562 | AANAT | c.494T>A (p.Val165Glu) c.629T>A (p.Val210Glu) c.*271T>A (n.*271T>A) n.805T>A c.701T>A (p.Val234Glu) c.584T>A (p.Val195Glu) c.608T>A (p.Val203Glu) n.750T>A | |
| 17 | g.76469840T>C | CA294178368 | AANAT | c.494T>C (p.Val165Ala) c.629T>C (p.Val210Ala) c.*271T>C (n.*271T>C) n.805T>C c.701T>C (p.Val234Ala) c.584T>C (p.Val195Ala) c.608T>C (p.Val203Ala) n.750T>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469840T>G | CA401161568 | AANAT | c.494T>G (p.Val165Gly) c.629T>G (p.Val210Gly) c.*271T>G (n.*271T>G) n.805T>G c.701T>G (p.Val234Gly) c.584T>G (p.Val195Gly) c.608T>G (p.Val203Gly) n.750T>G | |
| 17 | g.76469840T= | CA2276012014 | AANAT | c.494T= (p.Val165=) c.629T= (p.Val210=) c.*271T= (n.*271T=) n.805T= c.701T= (p.Val234=) c.584T= (p.Val195=) c.608T= (p.Val203=) n.750T= | |
| 17 | g.76469841A>C | CA502066796 | AANAT | c.495A>C (p.Val165=) c.630A>C (p.Val210=) c.*272A>C (n.*272A>C) n.806A>C c.702A>C (p.Val234=) c.585A>C (p.Val195=) c.609A>C (p.Val203=) n.751A>C | |
| 17 | g.76469841A>G | CA502066797 | AANAT | c.495A>G (p.Val165=) c.630A>G (p.Val210=) c.*272A>G (n.*272A>G) n.806A>G c.702A>G (p.Val234=) c.585A>G (p.Val195=) c.609A>G (p.Val203=) n.751A>G | gnomAD v4 |
| 17 | g.76469841A>T | CA502066798 | AANAT | c.495A>T (p.Val165=) c.630A>T (p.Val210=) c.*272A>T (n.*272A>T) n.806A>T c.702A>T (p.Val234=) c.585A>T (p.Val195=) c.609A>T (p.Val203=) n.751A>T | |
| 17 | g.76469842C>A | CA401161570 | AANAT | c.496C>A (p.Pro166Thr) c.631C>A (p.Pro211Thr) c.*273C>A (n.*273C>A) n.807C>A c.703C>A (p.Pro235Thr) c.586C>A (p.Pro196Thr) c.610C>A (p.Pro204Thr) n.752C>A | dbSNP |
| 17 | g.76469842C= | CA2276012015 | AANAT | c.496C= (p.Pro166=) c.631C= (p.Pro211=) c.*273C= (n.*273C=) n.807C= c.703C= (p.Pro235=) c.586C= (p.Pro196=) c.610C= (p.Pro204=) n.752C= | |
| 17 | g.76469842C>G | CA401161573 | AANAT | c.496C>G (p.Pro166Ala) c.631C>G (p.Pro211Ala) c.*273C>G (n.*273C>G) n.807C>G c.703C>G (p.Pro235Ala) c.586C>G (p.Pro196Ala) c.610C>G (p.Pro204Ala) n.752C>G | gnomAD v4 |
| 17 | g.76469842C>T | CA8786622 | AANAT | c.496C>T (p.Pro166Ser) c.631C>T (p.Pro211Ser) c.*273C>T (n.*273C>T) n.807C>T c.703C>T (p.Pro235Ser) c.586C>T (p.Pro196Ser) c.610C>T (p.Pro204Ser) n.752C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469843C>A | CA401161574 | AANAT | c.497C>A (p.Pro166His) c.632C>A (p.Pro211His) c.*274C>A (n.*274C>A) n.808C>A c.704C>A (p.Pro235His) c.587C>A (p.Pro196His) c.611C>A (p.Pro204His) n.753C>A | gnomAD v4 |
| 17 | g.76469843C= | CA2276012016 | AANAT | c.497C= (p.Pro166=) c.632C= (p.Pro211=) c.*274C= (n.*274C=) n.808C= c.704C= (p.Pro235=) c.587C= (p.Pro196=) c.611C= (p.Pro204=) n.753C= | |
| 17 | g.76469843C>G | CA401161576 | AANAT | c.497C>G (p.Pro166Arg) c.632C>G (p.Pro211Arg) c.*274C>G (n.*274C>G) n.808C>G c.704C>G (p.Pro235Arg) c.587C>G (p.Pro196Arg) c.611C>G (p.Pro204Arg) n.753C>G | |
| 17 | g.76469843C>T | CA8786623 | AANAT | c.497C>T (p.Pro166Leu) c.632C>T (p.Pro211Leu) c.*274C>T (n.*274C>T) n.808C>T c.704C>T (p.Pro235Leu) c.587C>T (p.Pro196Leu) c.611C>T (p.Pro204Leu) n.753C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |