Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.74525308C>A | CA377397924 | ADK | c.608C>A (p.Ala203Asp) c.557C>A (p.Ala186Asp) c.332C>A (p.Ala111Asp) c.556-63974C>A (n.556-63974C>A) c.348C>A c.*353C>A (n.*353C>A) c.503C>A (p.Ala168Asp) n.259+2458G>T c.524C>A (p.Ala175Asp) c.413C>A (p.Ala138Asp) c.505-63974C>A (n.505-63974C>A) | gnomAD v4 |
10 | g.74525308C>G | CA377397925 | ADK | c.608C>G (p.Ala203Gly) c.557C>G (p.Ala186Gly) c.332C>G (p.Ala111Gly) c.556-63974C>G (n.556-63974C>G) c.348C>G c.*353C>G (n.*353C>G) c.503C>G (p.Ala168Gly) n.259+2458G>C c.524C>G (p.Ala175Gly) c.413C>G (p.Ala138Gly) c.505-63974C>G (n.505-63974C>G) | |
10 | g.74525308C>T | CA377397926 | ADK | c.608C>T (p.Ala203Val) c.557C>T (p.Ala186Val) c.332C>T (p.Ala111Val) c.556-63974C>T (n.556-63974C>T) c.348C>T c.*353C>T (n.*353C>T) c.503C>T (p.Ala168Val) n.259+2458G>A c.524C>T (p.Ala175Val) c.413C>T (p.Ala138Val) c.505-63974C>T (n.505-63974C>T) | |
10 | g.74525309T>A | CA470254801 | ADK | c.609T>A (p.Ala203=) c.558T>A (p.Ala186=) c.333T>A (p.Ala111=) c.556-63973T>A (n.556-63973T>A) c.349T>A c.*354T>A (n.*354T>A) c.504T>A (p.Ala168=) n.259+2457A>T c.525T>A (p.Ala175=) c.414T>A (p.Ala138=) c.505-63973T>A (n.505-63973T>A) | |
10 | g.74525309T>C | CA470254802 | ADK | c.609T>C (p.Ala203=) c.558T>C (p.Ala186=) c.333T>C (p.Ala111=) c.556-63973T>C (n.556-63973T>C) c.349T>C c.*354T>C (n.*354T>C) c.504T>C (p.Ala168=) n.259+2457A>G c.525T>C (p.Ala175=) c.414T>C (p.Ala138=) c.505-63973T>C (n.505-63973T>C) | gnomAD v4 |
10 | g.74525309T>G | CA470254803 | ADK | c.609T>G (p.Ala203=) c.558T>G (p.Ala186=) c.333T>G (p.Ala111=) c.556-63973T>G (n.556-63973T>G) c.349T>G c.*354T>G (n.*354T>G) c.504T>G (p.Ala168=) n.259+2457A>C c.525T>G (p.Ala175=) c.414T>G (p.Ala138=) c.505-63973T>G (n.505-63973T>G) | |
10 | g.74525310T>A | CA377397927 | ADK | c.610T>A (p.Ser204Thr) c.559T>A (p.Ser187Thr) c.334T>A (p.Ser112Thr) c.556-63972T>A (n.556-63972T>A) c.350T>A c.*355T>A (n.*355T>A) c.505T>A (p.Ser169Thr) n.259+2456A>T c.526T>A (p.Ser176Thr) c.415T>A (p.Ser139Thr) c.505-63972T>A (n.505-63972T>A) | |
10 | g.74525310T>C | CA377397928 | ADK | c.610T>C (p.Ser204Pro) c.559T>C (p.Ser187Pro) c.334T>C (p.Ser112Pro) c.556-63972T>C (n.556-63972T>C) c.350T>C c.*355T>C (n.*355T>C) c.505T>C (p.Ser169Pro) n.259+2456A>G c.526T>C (p.Ser176Pro) c.415T>C (p.Ser139Pro) c.505-63972T>C (n.505-63972T>C) | |
10 | g.74525310T>G | CA377397929 | ADK | c.610T>G (p.Ser204Ala) c.559T>G (p.Ser187Ala) c.334T>G (p.Ser112Ala) c.556-63972T>G (n.556-63972T>G) c.350T>G c.*355T>G (n.*355T>G) c.505T>G (p.Ser169Ala) n.259+2456A>C c.526T>G (p.Ser176Ala) c.415T>G (p.Ser139Ala) c.505-63972T>G (n.505-63972T>G) | |
10 | g.74525311C>A | CA377397932 | ADK | c.611C>A (p.Ser204Tyr) c.560C>A (p.Ser187Tyr) c.335C>A (p.Ser112Tyr) c.556-63971C>A (n.556-63971C>A) c.351C>A c.*356C>A (n.*356C>A) c.506C>A (p.Ser169Tyr) n.259+2455G>T c.527C>A (p.Ser176Tyr) c.416C>A (p.Ser139Tyr) c.505-63971C>A (n.505-63971C>A) | gnomAD v4 |
10 | g.74525311C>G | CA377397931 | ADK | c.611C>G (p.Ser204Cys) c.560C>G (p.Ser187Cys) c.335C>G (p.Ser112Cys) c.556-63971C>G (n.556-63971C>G) c.351C>G c.*356C>G (n.*356C>G) c.506C>G (p.Ser169Cys) n.259+2455G>C c.527C>G (p.Ser176Cys) c.416C>G (p.Ser139Cys) c.505-63971C>G (n.505-63971C>G) | |
10 | g.74525311C>T | CA377397930 | ADK | c.611C>T (p.Ser204Phe) c.560C>T (p.Ser187Phe) c.335C>T (p.Ser112Phe) c.556-63971C>T (n.556-63971C>T) c.351C>T c.*356C>T (n.*356C>T) c.506C>T (p.Ser169Phe) n.259+2455G>A c.527C>T (p.Ser176Phe) c.416C>T (p.Ser139Phe) c.505-63971C>T (n.505-63971C>T) | |
10 | g.74525312T>A | CA470254805 | ADK | c.612T>A (p.Ser204=) c.561T>A (p.Ser187=) c.336T>A (p.Ser112=) c.556-63970T>A (n.556-63970T>A) c.352T>A c.*357T>A (n.*357T>A) c.507T>A (p.Ser169=) n.259+2454A>T c.528T>A (p.Ser176=) c.417T>A (p.Ser139=) c.505-63970T>A (n.505-63970T>A) | dbSNP |
10 | g.74525312T>C | CA470254807 | ADK | c.612T>C (p.Ser204=) c.561T>C (p.Ser187=) c.336T>C (p.Ser112=) c.556-63970T>C (n.556-63970T>C) c.352T>C c.*357T>C (n.*357T>C) c.507T>C (p.Ser169=) n.259+2454A>G c.528T>C (p.Ser176=) c.417T>C (p.Ser139=) c.505-63970T>C (n.505-63970T>C) | |
10 | g.74525312T>G | CA470254806 | ADK | c.612T>G (p.Ser204=) c.561T>G (p.Ser187=) c.336T>G (p.Ser112=) c.556-63970T>G (n.556-63970T>G) c.352T>G c.*357T>G (n.*357T>G) c.507T>G (p.Ser169=) n.259+2454A>C c.528T>G (p.Ser176=) c.417T>G (p.Ser139=) c.505-63970T>G (n.505-63970T>G) | |
10 | g.74525312T= | CA1920088374 | ADK | c.612T= (p.Ser204=) c.561T= (p.Ser187=) c.336T= (p.Ser112=) c.556-63970T= (n.556-63970T=) c.352T= c.*357T= (n.*357T=) c.507T= (p.Ser169=) n.259+2454A= c.528T= (p.Ser176=) c.417T= (p.Ser139=) c.505-63970T= (n.505-63970T=) | |
10 | g.74525313G>A | CA377397933 | ADK | c.613G>A (p.Glu205Lys) c.562G>A (p.Glu188Lys) c.337G>A (p.Glu113Lys) c.556-63969G>A (n.556-63969G>A) c.353G>A c.*358G>A (n.*358G>A) c.508G>A (p.Glu170Lys) n.259+2453C>T c.529G>A (p.Glu177Lys) c.418G>A (p.Glu140Lys) c.505-63969G>A (n.505-63969G>A) | COSMIC |
10 | g.74525313G>C | CA377397934 | ADK | c.613G>C (p.Glu205Gln) c.562G>C (p.Glu188Gln) c.337G>C (p.Glu113Gln) c.556-63969G>C (n.556-63969G>C) c.353G>C c.*358G>C (n.*358G>C) c.508G>C (p.Glu170Gln) n.259+2453C>G c.529G>C (p.Glu177Gln) c.418G>C (p.Glu140Gln) c.505-63969G>C (n.505-63969G>C) | |
10 | g.74525313G>T | CA377397935 | ADK | c.613G>T (p.Glu205Ter) c.562G>T (p.Glu188Ter) c.337G>T (p.Glu113Ter) c.556-63969G>T (n.556-63969G>T) c.353G>T c.*358G>T (n.*358G>T) c.508G>T (p.Glu170Ter) n.259+2453C>A c.529G>T (p.Glu177Ter) c.418G>T (p.Glu140Ter) c.505-63969G>T (n.505-63969G>T) | |
10 | g.74525314A>C | CA377397936 | ADK | c.614A>C (p.Glu205Ala) c.563A>C (p.Glu188Ala) c.338A>C (p.Glu113Ala) c.556-63968A>C (n.556-63968A>C) c.354A>C c.*359A>C (n.*359A>C) c.509A>C (p.Glu170Ala) n.259+2452T>G c.530A>C (p.Glu177Ala) c.419A>C (p.Glu140Ala) c.505-63968A>C (n.505-63968A>C) | |
10 | g.74525314A>G | CA377397937 | ADK | c.614A>G (p.Glu205Gly) c.563A>G (p.Glu188Gly) c.338A>G (p.Glu113Gly) c.556-63968A>G (n.556-63968A>G) c.354A>G c.*359A>G (n.*359A>G) c.509A>G (p.Glu170Gly) n.259+2452T>C c.530A>G (p.Glu177Gly) c.419A>G (p.Glu140Gly) c.505-63968A>G (n.505-63968A>G) | |
10 | g.74525314A>T | CA377397938 | ADK | c.614A>T (p.Glu205Val) c.563A>T (p.Glu188Val) c.338A>T (p.Glu113Val) c.556-63968A>T (n.556-63968A>T) c.354A>T c.*359A>T (n.*359A>T) c.509A>T (p.Glu170Val) n.259+2452T>A c.530A>T (p.Glu177Val) c.419A>T (p.Glu140Val) c.505-63968A>T (n.505-63968A>T) | |
10 | g.74525315A>C | CA377397939 | ADK | c.615A>C (p.Glu205Asp) c.564A>C (p.Glu188Asp) c.339A>C (p.Glu113Asp) c.556-63967A>C (n.556-63967A>C) c.355A>C c.*360A>C (n.*360A>C) c.510A>C (p.Glu170Asp) n.259+2451T>G c.531A>C (p.Glu177Asp) c.420A>C (p.Glu140Asp) c.505-63967A>C (n.505-63967A>C) | |
10 | g.74525315A>G | CA470254808 | ADK | c.615A>G (p.Glu205=) c.564A>G (p.Glu188=) c.339A>G (p.Glu113=) c.556-63967A>G (n.556-63967A>G) c.355A>G c.*360A>G (n.*360A>G) c.510A>G (p.Glu170=) n.259+2451T>C c.531A>G (p.Glu177=) c.420A>G (p.Glu140=) c.505-63967A>G (n.505-63967A>G) | |
10 | g.74525315A>T | CA377397940 | ADK | c.615A>T (p.Glu205Asp) c.564A>T (p.Glu188Asp) c.339A>T (p.Glu113Asp) c.556-63967A>T (n.556-63967A>T) c.355A>T c.*360A>T (n.*360A>T) c.510A>T (p.Glu170Asp) n.259+2451T>A c.531A>T (p.Glu177Asp) c.420A>T (p.Glu140Asp) c.505-63967A>T (n.505-63967A>T) | |
10 | g.74525316A>C | CA377397941 | ADK | c.616A>C (p.Asn206His) c.565A>C (p.Asn189His) c.340A>C (p.Asn114His) c.556-63966A>C (n.556-63966A>C) c.356A>C c.*361A>C (n.*361A>C) c.511A>C (p.Asn171His) n.259+2450T>G c.532A>C (p.Asn178His) c.421A>C (p.Asn141His) c.505-63966A>C (n.505-63966A>C) | |
10 | g.74525316A>G | CA377397942 | ADK | c.616A>G (p.Asn206Asp) c.565A>G (p.Asn189Asp) c.340A>G (p.Asn114Asp) c.556-63966A>G (n.556-63966A>G) c.356A>G c.*361A>G (n.*361A>G) c.511A>G (p.Asn171Asp) n.259+2450T>C c.532A>G (p.Asn178Asp) c.421A>G (p.Asn141Asp) c.505-63966A>G (n.505-63966A>G) | |
10 | g.74525316A>T | CA377397943 | ADK | c.616A>T (p.Asn206Tyr) c.565A>T (p.Asn189Tyr) c.340A>T (p.Asn114Tyr) c.556-63966A>T (n.556-63966A>T) c.356A>T c.*361A>T (n.*361A>T) c.511A>T (p.Asn171Tyr) n.259+2450T>A c.532A>T (p.Asn178Tyr) c.421A>T (p.Asn141Tyr) c.505-63966A>T (n.505-63966A>T) | |
10 | g.74525317A>C | CA377397946 | ADK | c.617A>C (p.Asn206Thr) c.566A>C (p.Asn189Thr) c.341A>C (p.Asn114Thr) c.556-63965A>C (n.556-63965A>C) c.357A>C c.*362A>C (n.*362A>C) c.512A>C (p.Asn171Thr) n.259+2449T>G c.533A>C (p.Asn178Thr) c.422A>C (p.Asn141Thr) c.505-63965A>C (n.505-63965A>C) | |
10 | g.74525317A>G | CA377397945 | ADK | c.617A>G (p.Asn206Ser) c.566A>G (p.Asn189Ser) c.341A>G (p.Asn114Ser) c.556-63965A>G (n.556-63965A>G) c.357A>G c.*362A>G (n.*362A>G) c.512A>G (p.Asn171Ser) n.259+2449T>C c.533A>G (p.Asn178Ser) c.422A>G (p.Asn141Ser) c.505-63965A>G (n.505-63965A>G) | |
10 | g.74525317A>T | CA377397944 | ADK | c.617A>T (p.Asn206Ile) c.566A>T (p.Asn189Ile) c.341A>T (p.Asn114Ile) c.556-63965A>T (n.556-63965A>T) c.357A>T c.*362A>T (n.*362A>T) c.512A>T (p.Asn171Ile) n.259+2449T>A c.533A>T (p.Asn178Ile) c.422A>T (p.Asn141Ile) c.505-63965A>T (n.505-63965A>T) | |
10 | g.74525318C>A | CA377397947 | ADK | c.618C>A (p.Asn206Lys) c.567C>A (p.Asn189Lys) c.342C>A (p.Asn114Lys) c.556-63964C>A (n.556-63964C>A) c.358C>A c.*363C>A (n.*363C>A) c.513C>A (p.Asn171Lys) n.259+2448G>T c.534C>A (p.Asn178Lys) c.423C>A (p.Asn141Lys) c.505-63964C>A (n.505-63964C>A) | |
10 | g.74525318C>G | CA377397948 | ADK | c.618C>G (p.Asn206Lys) c.567C>G (p.Asn189Lys) c.342C>G (p.Asn114Lys) c.556-63964C>G (n.556-63964C>G) c.358C>G c.*363C>G (n.*363C>G) c.513C>G (p.Asn171Lys) n.259+2448G>C c.534C>G (p.Asn178Lys) c.423C>G (p.Asn141Lys) c.505-63964C>G (n.505-63964C>G) | |
10 | g.74525318C>T | CA470254809 | ADK | c.618C>T (p.Asn206=) c.567C>T (p.Asn189=) c.342C>T (p.Asn114=) c.556-63964C>T (n.556-63964C>T) c.358C>T c.*363C>T (n.*363C>T) c.513C>T (p.Asn171=) n.259+2448G>A c.534C>T (p.Asn178=) c.423C>T (p.Asn141=) c.505-63964C>T (n.505-63964C>T) | gnomAD v4 |
10 | g.74525319A>C | CA377397949 | ADK | c.619A>C (p.Asn207His) c.568A>C (p.Asn190His) c.343A>C (p.Asn115His) c.556-63963A>C (n.556-63963A>C) c.359A>C c.*364A>C (n.*364A>C) c.514A>C (p.Asn172His) n.259+2447T>G c.535A>C (p.Asn179His) c.424A>C (p.Asn142His) c.505-63963A>C (n.505-63963A>C) | |
10 | g.74525319A>G | CA377397950 | ADK | c.619A>G (p.Asn207Asp) c.568A>G (p.Asn190Asp) c.343A>G (p.Asn115Asp) c.556-63963A>G (n.556-63963A>G) c.359A>G c.*364A>G (n.*364A>G) c.514A>G (p.Asn172Asp) n.259+2447T>C c.535A>G (p.Asn179Asp) c.424A>G (p.Asn142Asp) c.505-63963A>G (n.505-63963A>G) | |
10 | g.74525319A>T | CA377397951 | ADK | c.619A>T (p.Asn207Tyr) c.568A>T (p.Asn190Tyr) c.343A>T (p.Asn115Tyr) c.556-63963A>T (n.556-63963A>T) c.359A>T c.*364A>T (n.*364A>T) c.514A>T (p.Asn172Tyr) n.259+2447T>A c.535A>T (p.Asn179Tyr) c.424A>T (p.Asn142Tyr) c.505-63963A>T (n.505-63963A>T) | |
10 | g.74525320A>C | CA377397952 | ADK | c.620A>C (p.Asn207Thr) c.569A>C (p.Asn190Thr) c.344A>C (p.Asn115Thr) c.556-63962A>C (n.556-63962A>C) c.360A>C c.*365A>C (n.*365A>C) c.515A>C (p.Asn172Thr) n.259+2446T>G c.536A>C (p.Asn179Thr) c.425A>C (p.Asn142Thr) c.505-63962A>C (n.505-63962A>C) | ClinVar dbSNP |
10 | g.74525320A>G | CA377397953 | ADK | c.620A>G (p.Asn207Ser) c.569A>G (p.Asn190Ser) c.344A>G (p.Asn115Ser) c.556-63962A>G (n.556-63962A>G) c.360A>G c.*365A>G (n.*365A>G) c.515A>G (p.Asn172Ser) n.259+2446T>C c.536A>G (p.Asn179Ser) c.425A>G (p.Asn142Ser) c.505-63962A>G (n.505-63962A>G) | |
10 | g.74525320A>T | CA377397954 | ADK | c.620A>T (p.Asn207Ile) c.569A>T (p.Asn190Ile) c.344A>T (p.Asn115Ile) c.556-63962A>T (n.556-63962A>T) c.360A>T c.*365A>T (n.*365A>T) c.515A>T (p.Asn172Ile) n.259+2446T>A c.536A>T (p.Asn179Ile) c.425A>T (p.Asn142Ile) c.505-63962A>T (n.505-63962A>T) | |
10 | g.74525321C>A | CA377397955 | ADK | c.621C>A (p.Asn207Lys) c.570C>A (p.Asn190Lys) c.345C>A (p.Asn115Lys) c.556-63961C>A (n.556-63961C>A) c.361C>A c.*366C>A (n.*366C>A) c.516C>A (p.Asn172Lys) n.259+2445G>T c.537C>A (p.Asn179Lys) c.426C>A (p.Asn142Lys) c.505-63961C>A (n.505-63961C>A) | |
10 | g.74525321C>G | CA377397956 | ADK | c.621C>G (p.Asn207Lys) c.570C>G (p.Asn190Lys) c.345C>G (p.Asn115Lys) c.556-63961C>G (n.556-63961C>G) c.361C>G c.*366C>G (n.*366C>G) c.516C>G (p.Asn172Lys) n.259+2445G>C c.537C>G (p.Asn179Lys) c.426C>G (p.Asn142Lys) c.505-63961C>G (n.505-63961C>G) | |
10 | g.74525321C>T | CA470254810 | ADK | c.621C>T (p.Asn207=) c.570C>T (p.Asn190=) c.345C>T (p.Asn115=) c.556-63961C>T (n.556-63961C>T) c.361C>T c.*366C>T (n.*366C>T) c.516C>T (p.Asn172=) n.259+2445G>A c.537C>T (p.Asn179=) c.426C>T (p.Asn142=) c.505-63961C>T (n.505-63961C>T) | gnomAD v4 |
10 | g.74525322A>C | CA470254811 | ADK | c.622A>C (p.Arg208=) c.571A>C (p.Arg191=) c.346A>C (p.Arg116=) c.556-63960A>C (n.556-63960A>C) c.362A>C c.*367A>C (n.*367A>C) c.517A>C (p.Arg173=) n.259+2444T>G c.538A>C (p.Arg180=) c.427A>C (p.Arg143=) c.505-63960A>C (n.505-63960A>C) | |
10 | g.74525322A>G | CA377397957 | ADK | c.622A>G (p.Arg208Gly) c.571A>G (p.Arg191Gly) c.346A>G (p.Arg116Gly) c.556-63960A>G (n.556-63960A>G) c.362A>G c.*367A>G (n.*367A>G) c.517A>G (p.Arg173Gly) n.259+2444T>C c.538A>G (p.Arg180Gly) c.427A>G (p.Arg143Gly) c.505-63960A>G (n.505-63960A>G) | |
10 | g.74525322A>T | CA377397958 | ADK | c.622A>T (p.Arg208Trp) c.571A>T (p.Arg191Trp) c.346A>T (p.Arg116Trp) c.556-63960A>T (n.556-63960A>T) c.362A>T c.*367A>T (n.*367A>T) c.517A>T (p.Arg173Trp) n.259+2444T>A c.538A>T (p.Arg180Trp) c.427A>T (p.Arg143Trp) c.505-63960A>T (n.505-63960A>T) | |
10 | g.74525323G>A | CA377397961 | ADK | c.623G>A (p.Arg208Lys) c.572G>A (p.Arg191Lys) c.347G>A (p.Arg116Lys) c.556-63959G>A (n.556-63959G>A) c.363G>A c.*368G>A (n.*368G>A) c.518G>A (p.Arg173Lys) n.259+2443C>T c.539G>A (p.Arg180Lys) c.428G>A (p.Arg143Lys) c.505-63959G>A (n.505-63959G>A) | |
10 | g.74525323G>C | CA377397960 | ADK | c.623G>C (p.Arg208Thr) c.572G>C (p.Arg191Thr) c.347G>C (p.Arg116Thr) c.556-63959G>C (n.556-63959G>C) c.363G>C c.*368G>C (n.*368G>C) c.518G>C (p.Arg173Thr) n.259+2443C>G c.539G>C (p.Arg180Thr) c.428G>C (p.Arg143Thr) c.505-63959G>C (n.505-63959G>C) | |
10 | g.74525323G>T | CA377397959 | ADK | c.623G>T (p.Arg208Met) c.572G>T (p.Arg191Met) c.347G>T (p.Arg116Met) c.556-63959G>T (n.556-63959G>T) c.363G>T c.*368G>T (n.*368G>T) c.518G>T (p.Arg173Met) n.259+2443C>A c.539G>T (p.Arg180Met) c.428G>T (p.Arg143Met) c.505-63959G>T (n.505-63959G>T) | |
10 | g.74525324G>A | CA470254812 | ADK | c.624G>A (p.Arg208=) c.573G>A (p.Arg191=) c.348G>A (p.Arg116=) c.556-63958G>A (n.556-63958G>A) c.364G>A c.*369G>A (n.*369G>A) c.519G>A (p.Arg173=) n.259+2442C>T c.540G>A (p.Arg180=) c.429G>A (p.Arg143=) c.505-63958G>A (n.505-63958G>A) |