Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
10 | g.74525324G>C | CA377397962 | ADK | c.624G>C (p.Arg208Ser) c.573G>C (p.Arg191Ser) c.348G>C (p.Arg116Ser) c.556-63958G>C (n.556-63958G>C) c.364G>C c.*369G>C (n.*369G>C) c.519G>C (p.Arg173Ser) n.259+2442C>G c.540G>C (p.Arg180Ser) c.429G>C (p.Arg143Ser) c.505-63958G>C (n.505-63958G>C) | |
10 | g.74525324G>T | CA377397963 | ADK | c.624G>T (p.Arg208Ser) c.573G>T (p.Arg191Ser) c.348G>T (p.Arg116Ser) c.556-63958G>T (n.556-63958G>T) c.364G>T c.*369G>T (n.*369G>T) c.519G>T (p.Arg173Ser) n.259+2442C>A c.540G>T (p.Arg180Ser) c.429G>T (p.Arg143Ser) c.505-63958G>T (n.505-63958G>T) | |
10 | g.74525325A= | CA1920088378 | ADK | c.625A= (p.Ile209=) c.574A= (p.Ile192=) c.349A= (p.Ile117=) c.556-63957A= (n.556-63957A=) c.365A= c.*370A= (n.*370A=) c.520A= (p.Ile174=) n.259+2441T= c.541A= (p.Ile181=) c.430A= (p.Ile144=) c.505-63957A= (n.505-63957A=) | |
10 | g.74525325A>C | CA377397964 | ADK | c.625A>C (p.Ile209Leu) c.574A>C (p.Ile192Leu) c.349A>C (p.Ile117Leu) c.556-63957A>C (n.556-63957A>C) c.365A>C c.*370A>C (n.*370A>C) c.520A>C (p.Ile174Leu) n.259+2441T>G c.541A>C (p.Ile181Leu) c.430A>C (p.Ile144Leu) c.505-63957A>C (n.505-63957A>C) | |
10 | g.74525325A>G | CA377397965 | ADK | c.625A>G (p.Ile209Val) c.574A>G (p.Ile192Val) c.349A>G (p.Ile117Val) c.556-63957A>G (n.556-63957A>G) c.365A>G c.*370A>G (n.*370A>G) c.520A>G (p.Ile174Val) n.259+2441T>C c.541A>G (p.Ile181Val) c.430A>G (p.Ile144Val) c.505-63957A>G (n.505-63957A>G) | |
10 | g.74525325A>T | CA5564005 | ADK | c.625A>T (p.Ile209Phe) c.574A>T (p.Ile192Phe) c.349A>T (p.Ile117Phe) c.556-63957A>T (n.556-63957A>T) c.365A>T c.*370A>T (n.*370A>T) c.520A>T (p.Ile174Phe) n.259+2441T>A c.541A>T (p.Ile181Phe) c.430A>T (p.Ile144Phe) c.505-63957A>T (n.505-63957A>T) | dbSNP ExAC gnomAD v2 |
10 | g.74525326T>A | CA377397966 | ADK | c.626T>A (p.Ile209Asn) c.575T>A (p.Ile192Asn) c.350T>A (p.Ile117Asn) c.556-63956T>A (n.556-63956T>A) c.366T>A c.*371T>A (n.*371T>A) c.521T>A (p.Ile174Asn) n.259+2440A>T c.542T>A (p.Ile181Asn) c.431T>A (p.Ile144Asn) c.505-63956T>A (n.505-63956T>A) | |
10 | g.74525326T>C | CA377397967 | ADK | c.626T>C (p.Ile209Thr) c.575T>C (p.Ile192Thr) c.350T>C (p.Ile117Thr) c.556-63956T>C (n.556-63956T>C) c.366T>C c.*371T>C (n.*371T>C) c.521T>C (p.Ile174Thr) n.259+2440A>G c.542T>C (p.Ile181Thr) c.431T>C (p.Ile144Thr) c.505-63956T>C (n.505-63956T>C) | |
10 | g.74525326T>G | CA377397968 | ADK | c.626T>G (p.Ile209Ser) c.575T>G (p.Ile192Ser) c.350T>G (p.Ile117Ser) c.556-63956T>G (n.556-63956T>G) c.366T>G c.*371T>G (n.*371T>G) c.521T>G (p.Ile174Ser) n.259+2440A>C c.542T>G (p.Ile181Ser) c.431T>G (p.Ile144Ser) c.505-63956T>G (n.505-63956T>G) |