Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
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) | |
10 | g.74525327T>A | CA470254813 | ADK | c.627T>A (p.Ile209=) c.576T>A (p.Ile192=) c.351T>A (p.Ile117=) c.556-63955T>A (n.556-63955T>A) c.367T>A c.*372T>A (n.*372T>A) c.522T>A (p.Ile174=) n.259+2439A>T c.543T>A (p.Ile181=) c.432T>A (p.Ile144=) c.505-63955T>A (n.505-63955T>A) | |
10 | g.74525327T>C | CA470254814 | ADK | c.627T>C (p.Ile209=) c.576T>C (p.Ile192=) c.351T>C (p.Ile117=) c.556-63955T>C (n.556-63955T>C) c.367T>C c.*372T>C (n.*372T>C) c.522T>C (p.Ile174=) n.259+2439A>G c.543T>C (p.Ile181=) c.432T>C (p.Ile144=) c.505-63955T>C (n.505-63955T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.74525327T>G | CA377397969 | ADK | c.627T>G (p.Ile209Met) c.576T>G (p.Ile192Met) c.351T>G (p.Ile117Met) c.556-63955T>G (n.556-63955T>G) c.367T>G c.*372T>G (n.*372T>G) c.522T>G (p.Ile174Met) n.259+2439A>C c.543T>G (p.Ile181Met) c.432T>G (p.Ile144Met) c.505-63955T>G (n.505-63955T>G) | |
10 | g.74525327T= | CA1920088381 | ADK | c.627T= (p.Ile209=) c.576T= (p.Ile192=) c.351T= (p.Ile117=) c.556-63955T= (n.556-63955T=) c.367T= c.*372T= (n.*372T=) c.522T= (p.Ile174=) n.259+2439A= c.543T= (p.Ile181=) c.432T= (p.Ile144=) c.505-63955T= (n.505-63955T=) | |
10 | g.74525328T>A | CA377397970 | ADK | c.628T>A (p.Phe210Ile) c.577T>A (p.Phe193Ile) c.352T>A (p.Phe118Ile) c.556-63954T>A (n.556-63954T>A) c.368T>A c.*373T>A (n.*373T>A) c.523T>A (p.Phe175Ile) n.259+2438A>T c.544T>A (p.Phe182Ile) c.433T>A (p.Phe145Ile) c.505-63954T>A (n.505-63954T>A) | |
10 | g.74525328T>C | CA377397971 | ADK | c.628T>C (p.Phe210Leu) c.577T>C (p.Phe193Leu) c.352T>C (p.Phe118Leu) c.556-63954T>C (n.556-63954T>C) c.368T>C c.*373T>C (n.*373T>C) c.523T>C (p.Phe175Leu) n.259+2438A>G c.544T>C (p.Phe182Leu) c.433T>C (p.Phe145Leu) c.505-63954T>C (n.505-63954T>C) | |
10 | g.74525328T>G | CA377397972 | ADK | c.628T>G (p.Phe210Val) c.577T>G (p.Phe193Val) c.352T>G (p.Phe118Val) c.556-63954T>G (n.556-63954T>G) c.368T>G c.*373T>G (n.*373T>G) c.523T>G (p.Phe175Val) n.259+2438A>C c.544T>G (p.Phe182Val) c.433T>G (p.Phe145Val) c.505-63954T>G (n.505-63954T>G) | |
10 | g.74525329T>A | CA377397973 | ADK | c.629T>A (p.Phe210Tyr) c.578T>A (p.Phe193Tyr) c.353T>A (p.Phe118Tyr) c.556-63953T>A (n.556-63953T>A) c.369T>A c.*374T>A (n.*374T>A) c.524T>A (p.Phe175Tyr) n.259+2437A>T c.545T>A (p.Phe182Tyr) c.434T>A (p.Phe145Tyr) c.505-63953T>A (n.505-63953T>A) | |
10 | g.74525329T>C | CA377397974 | ADK | c.629T>C (p.Phe210Ser) c.578T>C (p.Phe193Ser) c.353T>C (p.Phe118Ser) c.556-63953T>C (n.556-63953T>C) c.369T>C c.*374T>C (n.*374T>C) c.524T>C (p.Phe175Ser) n.259+2437A>G c.545T>C (p.Phe182Ser) c.434T>C (p.Phe145Ser) c.505-63953T>C (n.505-63953T>C) | |
10 | g.74525329T>G | CA377397975 | ADK | c.629T>G (p.Phe210Cys) c.578T>G (p.Phe193Cys) c.353T>G (p.Phe118Cys) c.556-63953T>G (n.556-63953T>G) c.369T>G c.*374T>G (n.*374T>G) c.524T>G (p.Phe175Cys) n.259+2437A>C c.545T>G (p.Phe182Cys) c.434T>G (p.Phe145Cys) c.505-63953T>G (n.505-63953T>G) | |
10 | g.74525330C>A | CA377397976 | ADK | c.630C>A (p.Phe210Leu) c.579C>A (p.Phe193Leu) c.354C>A (p.Phe118Leu) c.556-63952C>A (n.556-63952C>A) c.370C>A c.*375C>A (n.*375C>A) c.525C>A (p.Phe175Leu) n.259+2436G>T c.546C>A (p.Phe182Leu) c.435C>A (p.Phe145Leu) c.505-63952C>A (n.505-63952C>A) | |
10 | g.74525330C>G | CA377397977 | ADK | c.630C>G (p.Phe210Leu) c.579C>G (p.Phe193Leu) c.354C>G (p.Phe118Leu) c.556-63952C>G (n.556-63952C>G) c.370C>G c.*375C>G (n.*375C>G) c.525C>G (p.Phe175Leu) n.259+2436G>C c.546C>G (p.Phe182Leu) c.435C>G (p.Phe145Leu) c.505-63952C>G (n.505-63952C>G) | |
10 | g.74525330C>T | CA470254815 | ADK | c.630C>T (p.Phe210=) c.579C>T (p.Phe193=) c.354C>T (p.Phe118=) c.556-63952C>T (n.556-63952C>T) c.370C>T c.*375C>T (n.*375C>T) c.525C>T (p.Phe175=) n.259+2436G>A c.546C>T (p.Phe182=) c.435C>T (p.Phe145=) c.505-63952C>T (n.505-63952C>T) | |
10 | g.74525331A= | CA1920088384 | ADK | c.631A= (p.Thr211=) c.580A= (p.Thr194=) c.355A= (p.Thr119=) c.556-63951A= (n.556-63951A=) c.371A= c.*376A= (n.*376A=) c.526A= (p.Thr176=) n.259+2435T= c.547A= (p.Thr183=) c.436A= (p.Thr146=) c.505-63951A= (n.505-63951A=) | |
10 | g.74525331A>C | CA377397978 | ADK | c.631A>C (p.Thr211Pro) c.580A>C (p.Thr194Pro) c.355A>C (p.Thr119Pro) c.556-63951A>C (n.556-63951A>C) c.371A>C c.*376A>C (n.*376A>C) c.526A>C (p.Thr176Pro) n.259+2435T>G c.547A>C (p.Thr183Pro) c.436A>C (p.Thr146Pro) c.505-63951A>C (n.505-63951A>C) | |
10 | g.74525331A>G | CA377397979 | ADK | c.631A>G (p.Thr211Ala) c.580A>G (p.Thr194Ala) c.355A>G (p.Thr119Ala) c.556-63951A>G (n.556-63951A>G) c.371A>G c.*376A>G (n.*376A>G) c.526A>G (p.Thr176Ala) n.259+2435T>C c.547A>G (p.Thr183Ala) c.436A>G (p.Thr146Ala) c.505-63951A>G (n.505-63951A>G) | |
10 | g.74525331A>T | CA209874922 | ADK | c.631A>T (p.Thr211Ser) c.580A>T (p.Thr194Ser) c.355A>T (p.Thr119Ser) c.556-63951A>T (n.556-63951A>T) c.371A>T c.*376A>T (n.*376A>T) c.526A>T (p.Thr176Ser) n.259+2435T>A c.547A>T (p.Thr183Ser) c.436A>T (p.Thr146Ser) c.505-63951A>T (n.505-63951A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.74525332C>A | CA377397980 | ADK | c.632C>A (p.Thr211Asn) c.581C>A (p.Thr194Asn) c.356C>A (p.Thr119Asn) c.556-63950C>A (n.556-63950C>A) c.372C>A c.*377C>A (n.*377C>A) c.527C>A (p.Thr176Asn) n.259+2434G>T c.548C>A (p.Thr183Asn) c.437C>A (p.Thr146Asn) c.505-63950C>A (n.505-63950C>A) | |
10 | g.74525332C= | CA1920088387 | ADK | c.632C= (p.Thr211=) c.581C= (p.Thr194=) c.356C= (p.Thr119=) c.556-63950C= (n.556-63950C=) c.372C= c.*377C= (n.*377C=) c.527C= (p.Thr176=) n.259+2434G= c.548C= (p.Thr183=) c.437C= (p.Thr146=) c.505-63950C= (n.505-63950C=) | |
10 | g.74525332C>G | CA377397981 | ADK | c.632C>G (p.Thr211Ser) c.581C>G (p.Thr194Ser) c.356C>G (p.Thr119Ser) c.556-63950C>G (n.556-63950C>G) c.372C>G c.*377C>G (n.*377C>G) c.527C>G (p.Thr176Ser) n.259+2434G>C c.548C>G (p.Thr183Ser) c.437C>G (p.Thr146Ser) c.505-63950C>G (n.505-63950C>G) | |
10 | g.74525332C>T | CA5564006 | ADK | c.632C>T (p.Thr211Ile) c.581C>T (p.Thr194Ile) c.356C>T (p.Thr119Ile) c.556-63950C>T (n.556-63950C>T) c.372C>T c.*377C>T (n.*377C>T) c.527C>T (p.Thr176Ile) n.259+2434G>A c.548C>T (p.Thr183Ile) c.437C>T (p.Thr146Ile) c.505-63950C>T (n.505-63950C>T) | dbSNP ExAC gnomAD v2 |
10 | g.74525333T>A | CA470254816 | ADK | c.633T>A (p.Thr211=) c.582T>A (p.Thr194=) c.357T>A (p.Thr119=) c.556-63949T>A (n.556-63949T>A) c.373T>A c.*378T>A (n.*378T>A) c.528T>A (p.Thr176=) n.259+2433A>T c.549T>A (p.Thr183=) c.438T>A (p.Thr146=) c.505-63949T>A (n.505-63949T>A) | |
10 | g.74525333T>C | CA470254818 | ADK | c.633T>C (p.Thr211=) c.582T>C (p.Thr194=) c.357T>C (p.Thr119=) c.556-63949T>C (n.556-63949T>C) c.373T>C c.*378T>C (n.*378T>C) c.528T>C (p.Thr176=) n.259+2433A>G c.549T>C (p.Thr183=) c.438T>C (p.Thr146=) c.505-63949T>C (n.505-63949T>C) | |
10 | g.74525333T>G | CA470254817 | ADK | c.633T>G (p.Thr211=) c.582T>G (p.Thr194=) c.357T>G (p.Thr119=) c.556-63949T>G (n.556-63949T>G) c.373T>G c.*378T>G (n.*378T>G) c.528T>G (p.Thr176=) n.259+2433A>C c.549T>G (p.Thr183=) c.438T>G (p.Thr146=) c.505-63949T>G (n.505-63949T>G) | |
10 | g.74525334T>A | CA377397982 | ADK | c.634T>A (p.Leu212Met) c.583T>A (p.Leu195Met) c.358T>A (p.Leu120Met) c.556-63948T>A (n.556-63948T>A) c.374T>A c.*379T>A (n.*379T>A) c.529T>A (p.Leu177Met) n.259+2432A>T c.550T>A (p.Leu184Met) c.439T>A (p.Leu147Met) c.505-63948T>A (n.505-63948T>A) | |
10 | g.74525334T>C | CA470254819 | ADK | c.634T>C (p.Leu212=) c.583T>C (p.Leu195=) c.358T>C (p.Leu120=) c.556-63948T>C (n.556-63948T>C) c.374T>C c.*379T>C (n.*379T>C) c.529T>C (p.Leu177=) n.259+2432A>G c.550T>C (p.Leu184=) c.439T>C (p.Leu147=) c.505-63948T>C (n.505-63948T>C) | |
10 | g.74525334T>G | CA377397983 | ADK | c.634T>G (p.Leu212Val) c.583T>G (p.Leu195Val) c.358T>G (p.Leu120Val) c.556-63948T>G (n.556-63948T>G) c.374T>G c.*379T>G (n.*379T>G) c.529T>G (p.Leu177Val) n.259+2432A>C c.550T>G (p.Leu184Val) c.439T>G (p.Leu147Val) c.505-63948T>G (n.505-63948T>G) | |
10 | g.74525335T>A | CA377397984 | ADK | c.635T>A (p.Leu212Ter) c.584T>A (p.Leu195Ter) c.359T>A (p.Leu120Ter) c.556-63947T>A (n.556-63947T>A) c.375T>A c.*380T>A (n.*380T>A) c.530T>A (p.Leu177Ter) n.259+2431A>T c.551T>A (p.Leu184Ter) c.440T>A (p.Leu147Ter) c.505-63947T>A (n.505-63947T>A) | |
10 | g.74525335T>C | CA377397985 | ADK | c.635T>C (p.Leu212Ser) c.584T>C (p.Leu195Ser) c.359T>C (p.Leu120Ser) c.556-63947T>C (n.556-63947T>C) c.375T>C c.*380T>C (n.*380T>C) c.530T>C (p.Leu177Ser) n.259+2431A>G c.551T>C (p.Leu184Ser) c.440T>C (p.Leu147Ser) c.505-63947T>C (n.505-63947T>C) | |
10 | g.74525335T>G | CA377397986 | ADK | c.635T>G (p.Leu212Trp) c.584T>G (p.Leu195Trp) c.359T>G (p.Leu120Trp) c.556-63947T>G (n.556-63947T>G) c.375T>G c.*380T>G (n.*380T>G) c.530T>G (p.Leu177Trp) n.259+2431A>C c.551T>G (p.Leu184Trp) c.440T>G (p.Leu147Trp) c.505-63947T>G (n.505-63947T>G) | |
10 | g.74525336G>A | CA470254820 | ADK | c.636G>A (p.Leu212=) c.585G>A (p.Leu195=) c.360G>A (p.Leu120=) c.556-63946G>A (n.556-63946G>A) c.376G>A c.*381G>A (n.*381G>A) c.531G>A (p.Leu177=) n.259+2430C>T c.552G>A (p.Leu184=) c.441G>A (p.Leu147=) c.505-63946G>A (n.505-63946G>A) | |
10 | g.74525336G>C | CA377397988 | ADK | c.636G>C (p.Leu212Phe) c.585G>C (p.Leu195Phe) c.360G>C (p.Leu120Phe) c.556-63946G>C (n.556-63946G>C) c.376G>C c.*381G>C (n.*381G>C) c.531G>C (p.Leu177Phe) n.259+2430C>G c.552G>C (p.Leu184Phe) c.441G>C (p.Leu147Phe) c.505-63946G>C (n.505-63946G>C) | |
10 | g.74525336G>T | CA377397987 | ADK | c.636G>T (p.Leu212Phe) c.585G>T (p.Leu195Phe) c.360G>T (p.Leu120Phe) c.556-63946G>T (n.556-63946G>T) c.376G>T c.*381G>T (n.*381G>T) c.531G>T (p.Leu177Phe) n.259+2430C>A c.552G>T (p.Leu184Phe) c.441G>T (p.Leu147Phe) c.505-63946G>T (n.505-63946G>T) | |
10 | g.74525337A>C | CA377397989 | ADK | c.637A>C (p.Asn213His) c.586A>C (p.Asn196His) c.361A>C (p.Asn121His) c.556-63945A>C (n.556-63945A>C) c.377A>C c.*382A>C (n.*382A>C) c.532A>C (p.Asn178His) n.259+2429T>G c.553A>C (p.Asn185His) c.442A>C (p.Asn148His) c.505-63945A>C (n.505-63945A>C) | |
10 | g.74525337A>G | CA377397990 | ADK | c.637A>G (p.Asn213Asp) c.586A>G (p.Asn196Asp) c.361A>G (p.Asn121Asp) c.556-63945A>G (n.556-63945A>G) c.377A>G c.*382A>G (n.*382A>G) c.532A>G (p.Asn178Asp) n.259+2429T>C c.553A>G (p.Asn185Asp) c.442A>G (p.Asn148Asp) c.505-63945A>G (n.505-63945A>G) | |
10 | g.74525337A>T | CA377397991 | ADK | c.637A>T (p.Asn213Tyr) c.586A>T (p.Asn196Tyr) c.361A>T (p.Asn121Tyr) c.556-63945A>T (n.556-63945A>T) c.377A>T c.*382A>T (n.*382A>T) c.532A>T (p.Asn178Tyr) n.259+2429T>A c.553A>T (p.Asn185Tyr) c.442A>T (p.Asn148Tyr) c.505-63945A>T (n.505-63945A>T) | |
10 | g.74525338A>C | CA377397992 | ADK | c.638A>C (p.Asn213Thr) c.587A>C (p.Asn196Thr) c.362A>C (p.Asn121Thr) c.556-63944A>C (n.556-63944A>C) c.378A>C c.*383A>C (n.*383A>C) c.533A>C (p.Asn178Thr) n.259+2428T>G c.554A>C (p.Asn185Thr) c.443A>C (p.Asn148Thr) c.505-63944A>C (n.505-63944A>C) | |
10 | g.74525338A>G | CA377397993 | ADK | c.638A>G (p.Asn213Ser) c.587A>G (p.Asn196Ser) c.362A>G (p.Asn121Ser) c.556-63944A>G (n.556-63944A>G) c.378A>G c.*383A>G (n.*383A>G) c.533A>G (p.Asn178Ser) n.259+2428T>C c.554A>G (p.Asn185Ser) c.443A>G (p.Asn148Ser) c.505-63944A>G (n.505-63944A>G) | |
10 | g.74525338A>T | CA377397994 | ADK | c.638A>T (p.Asn213Ile) c.587A>T (p.Asn196Ile) c.362A>T (p.Asn121Ile) c.556-63944A>T (n.556-63944A>T) c.378A>T c.*383A>T (n.*383A>T) c.533A>T (p.Asn178Ile) n.259+2428T>A c.554A>T (p.Asn185Ile) c.443A>T (p.Asn148Ile) c.505-63944A>T (n.505-63944A>T) | |
10 | g.74525342_74525345del | CA2582342700 | ADK | c.642_645del (p.Ser215HisfsTer12) c.591_594del (p.Ser198HisfsTer12) c.366_369del (p.Ser123HisfsTer12) c.556-63940_556-63937del (n.556-63940_556-63937del) c.382_385del c.*387_*390del (n.*387_*390del) c.537_540del (p.Ser180HisfsTer12) n.259+2425_259+2428del c.558_561del (p.Ser187HisfsTer12) c.447_450del (p.Ser150HisfsTer12) c.505-63940_505-63937del (n.505-63940_505-63937del) | ClinVar |
10 | g.74525339T>A | CA377397996 | ADK | c.639T>A (p.Asn213Lys) c.588T>A (p.Asn196Lys) c.363T>A (p.Asn121Lys) c.556-63943T>A (n.556-63943T>A) c.379T>A c.*384T>A (n.*384T>A) c.534T>A (p.Asn178Lys) n.259+2427A>T c.555T>A (p.Asn185Lys) c.444T>A (p.Asn148Lys) c.505-63943T>A (n.505-63943T>A) | |
10 | g.74525339T>C | CA470254821 | ADK | c.639T>C (p.Asn213=) c.588T>C (p.Asn196=) c.363T>C (p.Asn121=) c.556-63943T>C (n.556-63943T>C) c.379T>C c.*384T>C (n.*384T>C) c.534T>C (p.Asn178=) n.259+2427A>G c.555T>C (p.Asn185=) c.444T>C (p.Asn148=) c.505-63943T>C (n.505-63943T>C) | |
10 | g.74525339T>G | CA377397995 | ADK | c.639T>G (p.Asn213Lys) c.588T>G (p.Asn196Lys) c.363T>G (p.Asn121Lys) c.556-63943T>G (n.556-63943T>G) c.379T>G c.*384T>G (n.*384T>G) c.534T>G (p.Asn178Lys) n.259+2427A>C c.555T>G (p.Asn185Lys) c.444T>G (p.Asn148Lys) c.505-63943T>G (n.505-63943T>G) | |
10 | g.74525340C>A | CA377397997 | ADK | c.640C>A (p.Leu214Ile) c.589C>A (p.Leu197Ile) c.364C>A (p.Leu122Ile) c.556-63942C>A (n.556-63942C>A) c.380C>A c.*385C>A (n.*385C>A) c.535C>A (p.Leu179Ile) n.259+2426G>T c.556C>A (p.Leu186Ile) c.445C>A (p.Leu149Ile) c.505-63942C>A (n.505-63942C>A) | |
10 | g.74525340C>G | CA377397998 | ADK | c.640C>G (p.Leu214Val) c.589C>G (p.Leu197Val) c.364C>G (p.Leu122Val) c.556-63942C>G (n.556-63942C>G) c.380C>G c.*385C>G (n.*385C>G) c.535C>G (p.Leu179Val) n.259+2426G>C c.556C>G (p.Leu186Val) c.445C>G (p.Leu149Val) c.505-63942C>G (n.505-63942C>G) | |
10 | g.74525340C>T | CA470254822 | ADK | c.640C>T (p.Leu214=) c.589C>T (p.Leu197=) c.364C>T (p.Leu122=) c.556-63942C>T (n.556-63942C>T) c.380C>T c.*385C>T (n.*385C>T) c.535C>T (p.Leu179=) n.259+2426G>A c.556C>T (p.Leu186=) c.445C>T (p.Leu149=) c.505-63942C>T (n.505-63942C>T) | |
10 | g.74525341T>A | CA377397999 | ADK | c.641T>A (p.Leu214Gln) c.590T>A (p.Leu197Gln) c.365T>A (p.Leu122Gln) c.556-63941T>A (n.556-63941T>A) c.381T>A c.*386T>A (n.*386T>A) c.536T>A (p.Leu179Gln) n.259+2425A>T c.557T>A (p.Leu186Gln) c.446T>A (p.Leu149Gln) c.505-63941T>A (n.505-63941T>A) | |
10 | g.74525341T>C | CA377398000 | ADK | c.641T>C (p.Leu214Pro) c.590T>C (p.Leu197Pro) c.365T>C (p.Leu122Pro) c.556-63941T>C (n.556-63941T>C) c.381T>C c.*386T>C (n.*386T>C) c.536T>C (p.Leu179Pro) n.259+2425A>G c.557T>C (p.Leu186Pro) c.446T>C (p.Leu149Pro) c.505-63941T>C (n.505-63941T>C) | |
10 | g.74525341T>G | CA377398001 | ADK | c.641T>G (p.Leu214Arg) c.590T>G (p.Leu197Arg) c.365T>G (p.Leu122Arg) c.556-63941T>G (n.556-63941T>G) c.381T>G c.*386T>G (n.*386T>G) c.536T>G (p.Leu179Arg) n.259+2425A>C c.557T>G (p.Leu186Arg) c.446T>G (p.Leu149Arg) c.505-63941T>G (n.505-63941T>G) | |
10 | g.74525342A= | CA1920088390 | ADK | c.642A= (p.Leu214=) c.591A= (p.Leu197=) c.366A= (p.Leu122=) c.556-63940A= (n.556-63940A=) c.382A= c.*387A= (n.*387A=) c.537A= (p.Leu179=) n.259+2424T= c.558A= (p.Leu186=) c.447A= (p.Leu149=) c.505-63940A= (n.505-63940A=) | |
10 | g.74525342A>C | CA470254824 | ADK | c.642A>C (p.Leu214=) c.591A>C (p.Leu197=) c.366A>C (p.Leu122=) c.556-63940A>C (n.556-63940A>C) c.382A>C c.*387A>C (n.*387A>C) c.537A>C (p.Leu179=) n.259+2424T>G c.558A>C (p.Leu186=) c.447A>C (p.Leu149=) c.505-63940A>C (n.505-63940A>C) | |
10 | g.74525342A>G | CA5564007 | ADK | c.642A>G (p.Leu214=) c.591A>G (p.Leu197=) c.366A>G (p.Leu122=) c.556-63940A>G (n.556-63940A>G) c.382A>G c.*387A>G (n.*387A>G) c.537A>G (p.Leu179=) n.259+2424T>C c.558A>G (p.Leu186=) c.447A>G (p.Leu149=) c.505-63940A>G (n.505-63940A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.74525342A>T | CA470254823 | ADK | c.642A>T (p.Leu214=) c.591A>T (p.Leu197=) c.366A>T (p.Leu122=) c.556-63940A>T (n.556-63940A>T) c.382A>T c.*387A>T (n.*387A>T) c.537A>T (p.Leu179=) n.259+2424T>A c.558A>T (p.Leu186=) c.447A>T (p.Leu149=) c.505-63940A>T (n.505-63940A>T) | |
10 | g.74525343T>A | CA377398002 | ADK | c.643T>A (p.Ser215Thr) c.592T>A (p.Ser198Thr) c.367T>A (p.Ser123Thr) c.556-63939T>A (n.556-63939T>A) c.383T>A c.*388T>A (n.*388T>A) c.538T>A (p.Ser180Thr) n.259+2423A>T c.559T>A (p.Ser187Thr) c.448T>A (p.Ser150Thr) c.505-63939T>A (n.505-63939T>A) | dbSNP |
10 | g.74525343T>C | CA377398004 | ADK | c.643T>C (p.Ser215Pro) c.592T>C (p.Ser198Pro) c.367T>C (p.Ser123Pro) c.556-63939T>C (n.556-63939T>C) c.383T>C c.*388T>C (n.*388T>C) c.538T>C (p.Ser180Pro) n.259+2423A>G c.559T>C (p.Ser187Pro) c.448T>C (p.Ser150Pro) c.505-63939T>C (n.505-63939T>C) | |
10 | g.74525343T>G | CA377398003 | ADK | c.643T>G (p.Ser215Ala) c.592T>G (p.Ser198Ala) c.367T>G (p.Ser123Ala) c.556-63939T>G (n.556-63939T>G) c.383T>G c.*388T>G (n.*388T>G) c.538T>G (p.Ser180Ala) n.259+2423A>C c.559T>G (p.Ser187Ala) c.448T>G (p.Ser150Ala) c.505-63939T>G (n.505-63939T>G) | |
10 | g.74525343T= | CA1920088394 | ADK | c.643T= (p.Ser215=) c.592T= (p.Ser198=) c.367T= (p.Ser123=) c.556-63939T= (n.556-63939T=) c.383T= c.*388T= (n.*388T=) c.538T= (p.Ser180=) n.259+2423A= c.559T= (p.Ser187=) c.448T= (p.Ser150=) c.505-63939T= (n.505-63939T=) | |
10 | g.74525344C>A | CA377398005 | ADK | c.644C>A (p.Ser215Tyr) c.593C>A (p.Ser198Tyr) c.368C>A (p.Ser123Tyr) c.556-63938C>A (n.556-63938C>A) c.384C>A c.*389C>A (n.*389C>A) c.539C>A (p.Ser180Tyr) n.259+2422G>T c.560C>A (p.Ser187Tyr) c.449C>A (p.Ser150Tyr) c.505-63938C>A (n.505-63938C>A) | |
10 | g.74525344C>G | CA377398006 | ADK | c.644C>G (p.Ser215Cys) c.593C>G (p.Ser198Cys) c.368C>G (p.Ser123Cys) c.556-63938C>G (n.556-63938C>G) c.384C>G c.*389C>G (n.*389C>G) c.539C>G (p.Ser180Cys) n.259+2422G>C c.560C>G (p.Ser187Cys) c.449C>G (p.Ser150Cys) c.505-63938C>G (n.505-63938C>G) | |
10 | g.74525344C>T | CA377398007 | ADK | c.644C>T (p.Ser215Phe) c.593C>T (p.Ser198Phe) c.368C>T (p.Ser123Phe) c.556-63938C>T (n.556-63938C>T) c.384C>T c.*389C>T (n.*389C>T) c.539C>T (p.Ser180Phe) n.259+2422G>A c.560C>T (p.Ser187Phe) c.449C>T (p.Ser150Phe) c.505-63938C>T (n.505-63938C>T) | |
10 | g.74525345T>A | CA470254825 | ADK | c.645T>A (p.Ser215=) c.594T>A (p.Ser198=) c.369T>A (p.Ser123=) c.556-63937T>A (n.556-63937T>A) c.385T>A c.*390T>A (n.*390T>A) c.540T>A (p.Ser180=) n.259+2421A>T c.561T>A (p.Ser187=) c.450T>A (p.Ser150=) c.505-63937T>A (n.505-63937T>A) | |
10 | g.74525345T>C | CA470254826 | ADK | c.645T>C (p.Ser215=) c.594T>C (p.Ser198=) c.369T>C (p.Ser123=) c.556-63937T>C (n.556-63937T>C) c.385T>C c.*390T>C (n.*390T>C) c.540T>C (p.Ser180=) n.259+2421A>G c.561T>C (p.Ser187=) c.450T>C (p.Ser150=) c.505-63937T>C (n.505-63937T>C) | |
10 | g.74525345T>G | CA470254827 | ADK | c.645T>G (p.Ser215=) c.594T>G (p.Ser198=) c.369T>G (p.Ser123=) c.556-63937T>G (n.556-63937T>G) c.385T>G c.*390T>G (n.*390T>G) c.540T>G (p.Ser180=) n.259+2421A>C c.561T>G (p.Ser187=) c.450T>G (p.Ser150=) c.505-63937T>G (n.505-63937T>G) | |
10 | g.74525346G>A | CA377398008 | ADK | c.646G>A (p.Ala216Thr) c.595G>A (p.Ala199Thr) c.370G>A (p.Ala124Thr) c.556-63936G>A (n.556-63936G>A) c.386G>A c.*391G>A (n.*391G>A) c.541G>A (p.Ala181Thr) n.259+2420C>T c.562G>A (p.Ala188Thr) c.451G>A (p.Ala151Thr) c.505-63936G>A (n.505-63936G>A) | |
10 | g.74525346G>C | CA377398009 | ADK | c.646G>C (p.Ala216Pro) c.595G>C (p.Ala199Pro) c.370G>C (p.Ala124Pro) c.556-63936G>C (n.556-63936G>C) c.386G>C c.*391G>C (n.*391G>C) c.541G>C (p.Ala181Pro) n.259+2420C>G c.562G>C (p.Ala188Pro) c.451G>C (p.Ala151Pro) c.505-63936G>C (n.505-63936G>C) | |
10 | g.74525346G= | CA1920088398 | ADK | c.646G= (p.Ala216=) c.595G= (p.Ala199=) c.370G= (p.Ala124=) c.556-63936G= (n.556-63936G=) c.386G= c.*391G= (n.*391G=) c.541G= (p.Ala181=) n.259+2420C= c.562G= (p.Ala188=) c.451G= (p.Ala151=) c.505-63936G= (n.505-63936G=) | |
10 | g.74525346G>T | CA377398010 | ADK | c.646G>T (p.Ala216Ser) c.595G>T (p.Ala199Ser) c.370G>T (p.Ala124Ser) c.556-63936G>T (n.556-63936G>T) c.386G>T c.*391G>T (n.*391G>T) c.541G>T (p.Ala181Ser) n.259+2420C>A c.562G>T (p.Ala188Ser) c.451G>T (p.Ala151Ser) c.505-63936G>T (n.505-63936G>T) | dbSNP gnomAD v4 |
10 | g.74525347C>A | CA377398011 | ADK | c.647C>A (p.Ala216Glu) c.596C>A (p.Ala199Glu) c.371C>A (p.Ala124Glu) c.556-63935C>A (n.556-63935C>A) c.387C>A c.*392C>A (n.*392C>A) c.542C>A (p.Ala181Glu) n.259+2419G>T c.563C>A (p.Ala188Glu) c.452C>A (p.Ala151Glu) c.505-63935C>A (n.505-63935C>A) | |
10 | g.74525347C>G | CA377398012 | ADK | c.647C>G (p.Ala216Gly) c.596C>G (p.Ala199Gly) c.371C>G (p.Ala124Gly) c.556-63935C>G (n.556-63935C>G) c.387C>G c.*392C>G (n.*392C>G) c.542C>G (p.Ala181Gly) n.259+2419G>C c.563C>G (p.Ala188Gly) c.452C>G (p.Ala151Gly) c.505-63935C>G (n.505-63935C>G) | |
10 | g.74525347C>T | CA377398013 | ADK | c.647C>T (p.Ala216Val) c.596C>T (p.Ala199Val) c.371C>T (p.Ala124Val) c.556-63935C>T (n.556-63935C>T) c.387C>T c.*392C>T (n.*392C>T) c.542C>T (p.Ala181Val) n.259+2419G>A c.563C>T (p.Ala188Val) c.452C>T (p.Ala151Val) c.505-63935C>T (n.505-63935C>T) | |
10 | g.74525348A>C | CA470254829 | ADK | c.648A>C (p.Ala216=) c.597A>C (p.Ala199=) c.372A>C (p.Ala124=) c.556-63934A>C (n.556-63934A>C) c.388A>C c.*393A>C (n.*393A>C) c.543A>C (p.Ala181=) n.259+2418T>G c.564A>C (p.Ala188=) c.453A>C (p.Ala151=) c.505-63934A>C (n.505-63934A>C) | |
10 | g.74525348A>G | CA470254830 | ADK | c.648A>G (p.Ala216=) c.597A>G (p.Ala199=) c.372A>G (p.Ala124=) c.556-63934A>G (n.556-63934A>G) c.388A>G c.*393A>G (n.*393A>G) c.543A>G (p.Ala181=) n.259+2418T>C c.564A>G (p.Ala188=) c.453A>G (p.Ala151=) c.505-63934A>G (n.505-63934A>G) | |
10 | g.74525348A>T | CA470254831 | ADK | c.648A>T (p.Ala216=) c.597A>T (p.Ala199=) c.372A>T (p.Ala124=) c.556-63934A>T (n.556-63934A>T) c.388A>T c.*393A>T (n.*393A>T) c.543A>T (p.Ala181=) n.259+2418T>A c.564A>T (p.Ala188=) c.453A>T (p.Ala151=) c.505-63934A>T (n.505-63934A>T) | |
10 | g.74525349C>A | CA377398014 | ADK | c.649C>A (p.Pro217Thr) c.598C>A (p.Pro200Thr) c.373C>A (p.Pro125Thr) c.556-63933C>A (n.556-63933C>A) c.389C>A c.*394C>A (n.*394C>A) c.544C>A (p.Pro182Thr) n.259+2417G>T c.565C>A (p.Pro189Thr) c.454C>A (p.Pro152Thr) c.505-63933C>A (n.505-63933C>A) | |
10 | g.74525349C>G | CA377398015 | ADK | c.649C>G (p.Pro217Ala) c.598C>G (p.Pro200Ala) c.373C>G (p.Pro125Ala) c.556-63933C>G (n.556-63933C>G) c.389C>G c.*394C>G (n.*394C>G) c.544C>G (p.Pro182Ala) n.259+2417G>C c.565C>G (p.Pro189Ala) c.454C>G (p.Pro152Ala) c.505-63933C>G (n.505-63933C>G) | |
10 | g.74525349C>T | CA377398016 | ADK | c.649C>T (p.Pro217Ser) c.598C>T (p.Pro200Ser) c.373C>T (p.Pro125Ser) c.556-63933C>T (n.556-63933C>T) c.389C>T c.*394C>T (n.*394C>T) c.544C>T (p.Pro182Ser) n.259+2417G>A c.565C>T (p.Pro189Ser) c.454C>T (p.Pro152Ser) c.505-63933C>T (n.505-63933C>T) | |
10 | g.74525350C>A | CA377398017 | ADK | c.650C>A (p.Pro217Gln) c.599C>A (p.Pro200Gln) c.374C>A (p.Pro125Gln) c.556-63932C>A (n.556-63932C>A) c.390C>A c.*395C>A (n.*395C>A) c.545C>A (p.Pro182Gln) n.259+2416G>T c.566C>A (p.Pro189Gln) c.455C>A (p.Pro152Gln) c.505-63932C>A (n.505-63932C>A) | |
10 | g.74525350C= | CA1920088400 | ADK | c.650C= (p.Pro217=) c.599C= (p.Pro200=) c.374C= (p.Pro125=) c.556-63932C= (n.556-63932C=) c.390C= c.*395C= (n.*395C=) c.545C= (p.Pro182=) n.259+2416G= c.566C= (p.Pro189=) c.455C= (p.Pro152=) c.505-63932C= (n.505-63932C=) | |
10 | g.74525350C>G | CA377398018 | ADK | c.650C>G (p.Pro217Arg) c.599C>G (p.Pro200Arg) c.374C>G (p.Pro125Arg) c.556-63932C>G (n.556-63932C>G) c.390C>G c.*395C>G (n.*395C>G) c.545C>G (p.Pro182Arg) n.259+2416G>C c.566C>G (p.Pro189Arg) c.455C>G (p.Pro152Arg) c.505-63932C>G (n.505-63932C>G) | |
10 | g.74525350C>T | CA5564008 | ADK | c.650C>T (p.Pro217Leu) c.599C>T (p.Pro200Leu) c.374C>T (p.Pro125Leu) c.556-63932C>T (n.556-63932C>T) c.390C>T c.*395C>T (n.*395C>T) c.545C>T (p.Pro182Leu) n.259+2416G>A c.566C>T (p.Pro189Leu) c.455C>T (p.Pro152Leu) c.505-63932C>T (n.505-63932C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.74525351G>A | CA209874923 | ADK | c.651G>A (p.Pro217=) c.600G>A (p.Pro200=) c.375G>A (p.Pro125=) c.556-63931G>A (n.556-63931G>A) c.391G>A c.*396G>A (n.*396G>A) c.546G>A (p.Pro182=) n.259+2415C>T c.567G>A (p.Pro189=) c.456G>A (p.Pro152=) c.505-63931G>A (n.505-63931G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.74525351G>C | CA470254832 | ADK | c.651G>C (p.Pro217=) c.600G>C (p.Pro200=) c.375G>C (p.Pro125=) c.556-63931G>C (n.556-63931G>C) c.391G>C c.*396G>C (n.*396G>C) c.546G>C (p.Pro182=) n.259+2415C>G c.567G>C (p.Pro189=) c.456G>C (p.Pro152=) c.505-63931G>C (n.505-63931G>C) | |
10 | g.74525351G= | CA1920088403 | ADK | c.651G= (p.Pro217=) c.600G= (p.Pro200=) c.375G= (p.Pro125=) c.556-63931G= (n.556-63931G=) c.391G= c.*396G= (n.*396G=) c.546G= (p.Pro182=) n.259+2415C= c.567G= (p.Pro189=) c.456G= (p.Pro152=) c.505-63931G= (n.505-63931G=) | |
10 | g.74525351G>T | CA470254833 | ADK | c.651G>T (p.Pro217=) c.600G>T (p.Pro200=) c.375G>T (p.Pro125=) c.556-63931G>T (n.556-63931G>T) c.391G>T c.*396G>T (n.*396G>T) c.546G>T (p.Pro182=) n.259+2415C>A c.567G>T (p.Pro189=) c.456G>T (p.Pro152=) c.505-63931G>T (n.505-63931G>T) | |
10 | g.74525352T>A | CA377398019 | ADK | c.652T>A (p.Phe218Ile) c.601T>A (p.Phe201Ile) c.376T>A (p.Phe126Ile) c.556-63930T>A (n.556-63930T>A) c.392T>A c.*397T>A (n.*397T>A) c.547T>A (p.Phe183Ile) n.259+2414A>T c.568T>A (p.Phe190Ile) c.457T>A (p.Phe153Ile) c.505-63930T>A (n.505-63930T>A) | |
10 | g.74525352T>C | CA377398021 | ADK | c.652T>C (p.Phe218Leu) c.601T>C (p.Phe201Leu) c.376T>C (p.Phe126Leu) c.556-63930T>C (n.556-63930T>C) c.392T>C c.*397T>C (n.*397T>C) c.547T>C (p.Phe183Leu) n.259+2414A>G c.568T>C (p.Phe190Leu) c.457T>C (p.Phe153Leu) c.505-63930T>C (n.505-63930T>C) | |
10 | g.74525352T>G | CA377398020 | ADK | c.652T>G (p.Phe218Val) c.601T>G (p.Phe201Val) c.376T>G (p.Phe126Val) c.556-63930T>G (n.556-63930T>G) c.392T>G c.*397T>G (n.*397T>G) c.547T>G (p.Phe183Val) n.259+2414A>C c.568T>G (p.Phe190Val) c.457T>G (p.Phe153Val) c.505-63930T>G (n.505-63930T>G) | |
10 | g.74525353T>A | CA377398022 | ADK | c.653T>A (p.Phe218Tyr) c.602T>A (p.Phe201Tyr) c.377T>A (p.Phe126Tyr) c.556-63929T>A (n.556-63929T>A) c.393T>A c.*398T>A (n.*398T>A) c.548T>A (p.Phe183Tyr) n.259+2413A>T c.569T>A (p.Phe190Tyr) c.458T>A (p.Phe153Tyr) c.505-63929T>A (n.505-63929T>A) | |
10 | g.74525353T>C | CA377398023 | ADK | c.653T>C (p.Phe218Ser) c.602T>C (p.Phe201Ser) c.377T>C (p.Phe126Ser) c.556-63929T>C (n.556-63929T>C) c.393T>C c.*398T>C (n.*398T>C) c.548T>C (p.Phe183Ser) n.259+2413A>G c.569T>C (p.Phe190Ser) c.458T>C (p.Phe153Ser) c.505-63929T>C (n.505-63929T>C) | dbSNP |
10 | g.74525353T>G | CA377398024 | ADK | c.653T>G (p.Phe218Cys) c.602T>G (p.Phe201Cys) c.377T>G (p.Phe126Cys) c.556-63929T>G (n.556-63929T>G) c.393T>G c.*398T>G (n.*398T>G) c.548T>G (p.Phe183Cys) n.259+2413A>C c.569T>G (p.Phe190Cys) c.458T>G (p.Phe153Cys) c.505-63929T>G (n.505-63929T>G) | |
10 | g.74525353T= | CA1920088405 | ADK | c.653T= (p.Phe218=) c.602T= (p.Phe201=) c.377T= (p.Phe126=) c.556-63929T= (n.556-63929T=) c.393T= c.*398T= (n.*398T=) c.548T= (p.Phe183=) n.259+2413A= c.569T= (p.Phe190=) c.458T= (p.Phe153=) c.505-63929T= (n.505-63929T=) | |
10 | g.74525354T>A | CA377398025 | ADK | c.654T>A (p.Phe218Leu) c.603T>A (p.Phe201Leu) c.378T>A (p.Phe126Leu) c.556-63928T>A (n.556-63928T>A) c.394T>A c.*399T>A (n.*399T>A) c.549T>A (p.Phe183Leu) n.259+2412A>T c.570T>A (p.Phe190Leu) c.459T>A (p.Phe153Leu) c.505-63928T>A (n.505-63928T>A) | |
10 | g.74525354T>C | CA470254834 | ADK | c.654T>C (p.Phe218=) c.603T>C (p.Phe201=) c.378T>C (p.Phe126=) c.556-63928T>C (n.556-63928T>C) c.394T>C c.*399T>C (n.*399T>C) c.549T>C (p.Phe183=) n.259+2412A>G c.570T>C (p.Phe190=) c.459T>C (p.Phe153=) c.505-63928T>C (n.505-63928T>C) | gnomAD v4 |
10 | g.74525354T>G | CA377398026 | ADK | c.654T>G (p.Phe218Leu) c.603T>G (p.Phe201Leu) c.378T>G (p.Phe126Leu) c.556-63928T>G (n.556-63928T>G) c.394T>G c.*399T>G (n.*399T>G) c.549T>G (p.Phe183Leu) n.259+2412A>C c.570T>G (p.Phe190Leu) c.459T>G (p.Phe153Leu) c.505-63928T>G (n.505-63928T>G) | |
10 | g.74525355A>C | CA377398027 | ADK | c.655A>C (p.Ile219Leu) c.604A>C (p.Ile202Leu) c.379A>C (p.Ile127Leu) c.556-63927A>C (n.556-63927A>C) c.395A>C c.*400A>C (n.*400A>C) c.550A>C (p.Ile184Leu) n.259+2411T>G c.571A>C (p.Ile191Leu) c.460A>C (p.Ile154Leu) c.505-63927A>C (n.505-63927A>C) | |
10 | g.74525355A>G | CA377398028 | ADK | c.655A>G (p.Ile219Val) c.604A>G (p.Ile202Val) c.379A>G (p.Ile127Val) c.556-63927A>G (n.556-63927A>G) c.395A>G c.*400A>G (n.*400A>G) c.550A>G (p.Ile184Val) n.259+2411T>C c.571A>G (p.Ile191Val) c.460A>G (p.Ile154Val) c.505-63927A>G (n.505-63927A>G) | |
10 | g.74525355A>T | CA377398029 | ADK | c.655A>T (p.Ile219Phe) c.604A>T (p.Ile202Phe) c.379A>T (p.Ile127Phe) c.556-63927A>T (n.556-63927A>T) c.395A>T c.*400A>T (n.*400A>T) c.550A>T (p.Ile184Phe) n.259+2411T>A c.571A>T (p.Ile191Phe) c.460A>T (p.Ile154Phe) c.505-63927A>T (n.505-63927A>T) | |
10 | g.74525356T>A | CA377398030 | ADK | c.656T>A (p.Ile219Asn) c.605T>A (p.Ile202Asn) c.380T>A (p.Ile127Asn) c.556-63926T>A (n.556-63926T>A) c.396T>A c.*401T>A (n.*401T>A) c.551T>A (p.Ile184Asn) n.259+2410A>T c.572T>A (p.Ile191Asn) c.461T>A (p.Ile154Asn) c.505-63926T>A (n.505-63926T>A) | |
10 | g.74525356T>C | CA377398031 | ADK | c.656T>C (p.Ile219Thr) c.605T>C (p.Ile202Thr) c.380T>C (p.Ile127Thr) c.556-63926T>C (n.556-63926T>C) c.396T>C c.*401T>C (n.*401T>C) c.551T>C (p.Ile184Thr) n.259+2410A>G c.572T>C (p.Ile191Thr) c.461T>C (p.Ile154Thr) c.505-63926T>C (n.505-63926T>C) | |
10 | g.74525356T>G | CA377398032 | ADK | c.656T>G (p.Ile219Ser) c.605T>G (p.Ile202Ser) c.380T>G (p.Ile127Ser) c.556-63926T>G (n.556-63926T>G) c.396T>G c.*401T>G (n.*401T>G) c.551T>G (p.Ile184Ser) n.259+2410A>C c.572T>G (p.Ile191Ser) c.461T>G (p.Ile154Ser) c.505-63926T>G (n.505-63926T>G) | |
10 | g.74525357T>A | CA470254835 | ADK | c.657T>A (p.Ile219=) c.606T>A (p.Ile202=) c.381T>A (p.Ile127=) c.556-63925T>A (n.556-63925T>A) c.397T>A c.*402T>A (n.*402T>A) c.552T>A (p.Ile184=) n.259+2409A>T c.573T>A (p.Ile191=) c.462T>A (p.Ile154=) c.505-63925T>A (n.505-63925T>A) | |
10 | g.74525357T>C | CA470254836 | ADK | c.657T>C (p.Ile219=) c.606T>C (p.Ile202=) c.381T>C (p.Ile127=) c.556-63925T>C (n.556-63925T>C) c.397T>C c.*402T>C (n.*402T>C) c.552T>C (p.Ile184=) n.259+2409A>G c.573T>C (p.Ile191=) c.462T>C (p.Ile154=) c.505-63925T>C (n.505-63925T>C) | gnomAD v4 |
10 | g.74525357T>G | CA377398033 | ADK | c.657T>G (p.Ile219Met) c.606T>G (p.Ile202Met) c.381T>G (p.Ile127Met) c.556-63925T>G (n.556-63925T>G) c.397T>G c.*402T>G (n.*402T>G) c.552T>G (p.Ile184Met) n.259+2409A>C c.573T>G (p.Ile191Met) c.462T>G (p.Ile154Met) c.505-63925T>G (n.505-63925T>G) | |
10 | g.74525358A>C | CA377398036 | ADK | c.658A>C (p.Ser220Arg) c.607A>C (p.Ser203Arg) c.382A>C (p.Ser128Arg) c.556-63924A>C (n.556-63924A>C) c.398A>C c.*403A>C (n.*403A>C) c.553A>C (p.Ser185Arg) n.259+2408T>G c.574A>C (p.Ser192Arg) c.463A>C (p.Ser155Arg) c.505-63924A>C (n.505-63924A>C) | |
10 | g.74525358A>G | CA377398034 | ADK | c.658A>G (p.Ser220Gly) c.607A>G (p.Ser203Gly) c.382A>G (p.Ser128Gly) c.556-63924A>G (n.556-63924A>G) c.398A>G c.*403A>G (n.*403A>G) c.553A>G (p.Ser185Gly) n.259+2408T>C c.574A>G (p.Ser192Gly) c.463A>G (p.Ser155Gly) c.505-63924A>G (n.505-63924A>G) | gnomAD v4 |
10 | g.74525358A>T | CA377398035 | ADK | c.658A>T (p.Ser220Cys) c.607A>T (p.Ser203Cys) c.382A>T (p.Ser128Cys) c.556-63924A>T (n.556-63924A>T) c.398A>T c.*403A>T (n.*403A>T) c.553A>T (p.Ser185Cys) n.259+2408T>A c.574A>T (p.Ser192Cys) c.463A>T (p.Ser155Cys) c.505-63924A>T (n.505-63924A>T) | |
10 | g.74525359G>A | CA377398037 | ADK | c.659G>A (p.Ser220Asn) c.608G>A (p.Ser203Asn) c.383G>A (p.Ser128Asn) c.556-63923G>A (n.556-63923G>A) c.399G>A c.*404G>A (n.*404G>A) c.554G>A (p.Ser185Asn) n.259+2407C>T c.575G>A (p.Ser192Asn) c.464G>A (p.Ser155Asn) c.505-63923G>A (n.505-63923G>A) | |
10 | g.74525359G>C | CA377398038 | ADK | c.659G>C (p.Ser220Thr) c.608G>C (p.Ser203Thr) c.383G>C (p.Ser128Thr) c.556-63923G>C (n.556-63923G>C) c.399G>C c.*404G>C (n.*404G>C) c.554G>C (p.Ser185Thr) n.259+2407C>G c.575G>C (p.Ser192Thr) c.464G>C (p.Ser155Thr) c.505-63923G>C (n.505-63923G>C) | |
10 | g.74525359G>T | CA377398039 | ADK | c.659G>T (p.Ser220Ile) c.608G>T (p.Ser203Ile) c.383G>T (p.Ser128Ile) c.556-63923G>T (n.556-63923G>T) c.399G>T c.*404G>T (n.*404G>T) c.554G>T (p.Ser185Ile) n.259+2407C>A c.575G>T (p.Ser192Ile) c.464G>T (p.Ser155Ile) c.505-63923G>T (n.505-63923G>T) | |
10 | g.74525360C>A | CA377398040 | ADK | c.660C>A (p.Ser220Arg) c.609C>A (p.Ser203Arg) c.384C>A (p.Ser128Arg) c.556-63922C>A (n.556-63922C>A) c.400C>A c.*405C>A (n.*405C>A) c.555C>A (p.Ser185Arg) n.259+2406G>T c.576C>A (p.Ser192Arg) c.465C>A (p.Ser155Arg) c.505-63922C>A (n.505-63922C>A) | |
10 | g.74525360C= | CA1920088408 | ADK | c.660C= (p.Ser220=) c.609C= (p.Ser203=) c.384C= (p.Ser128=) c.556-63922C= (n.556-63922C=) c.400C= c.*405C= (n.*405C=) c.555C= (p.Ser185=) n.259+2406G= c.576C= (p.Ser192=) c.465C= (p.Ser155=) c.505-63922C= (n.505-63922C=) | |
10 | g.74525360C>G | CA377398041 | ADK | c.660C>G (p.Ser220Arg) c.609C>G (p.Ser203Arg) c.384C>G (p.Ser128Arg) c.556-63922C>G (n.556-63922C>G) c.400C>G c.*405C>G (n.*405C>G) c.555C>G (p.Ser185Arg) n.259+2406G>C c.576C>G (p.Ser192Arg) c.465C>G (p.Ser155Arg) c.505-63922C>G (n.505-63922C>G) | |
10 | g.74525360C>T | CA5564009 | ADK | c.660C>T (p.Ser220=) c.609C>T (p.Ser203=) c.384C>T (p.Ser128=) c.556-63922C>T (n.556-63922C>T) c.400C>T c.*405C>T (n.*405C>T) c.555C>T (p.Ser185=) n.259+2406G>A c.576C>T (p.Ser192=) c.465C>T (p.Ser155=) c.505-63922C>T (n.505-63922C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.74525361C>A | CA377398042 | ADK | c.661C>A (p.Gln221Lys) c.610C>A (p.Gln204Lys) c.385C>A (p.Gln129Lys) c.556-63921C>A (n.556-63921C>A) c.401C>A c.*406C>A (n.*406C>A) c.556C>A (p.Gln186Lys) n.259+2405G>T c.577C>A (p.Gln193Lys) c.466C>A (p.Gln156Lys) c.505-63921C>A (n.505-63921C>A) | |
10 | g.74525361C>G | CA377398043 | ADK | c.661C>G (p.Gln221Glu) c.610C>G (p.Gln204Glu) c.385C>G (p.Gln129Glu) c.556-63921C>G (n.556-63921C>G) c.401C>G c.*406C>G (n.*406C>G) c.556C>G (p.Gln186Glu) n.259+2405G>C c.577C>G (p.Gln193Glu) c.466C>G (p.Gln156Glu) c.505-63921C>G (n.505-63921C>G) | |
10 | g.74525361C>T | CA377398044 | ADK | c.661C>T (p.Gln221Ter) c.610C>T (p.Gln204Ter) c.385C>T (p.Gln129Ter) c.556-63921C>T (n.556-63921C>T) c.401C>T c.*406C>T (n.*406C>T) c.556C>T (p.Gln186Ter) n.259+2405G>A c.577C>T (p.Gln193Ter) c.466C>T (p.Gln156Ter) c.505-63921C>T (n.505-63921C>T) | gnomAD v4 |
10 | g.74525362A>C | CA377398045 | ADK | c.662A>C (p.Gln221Pro) c.611A>C (p.Gln204Pro) c.386A>C (p.Gln129Pro) c.556-63920A>C (n.556-63920A>C) c.402A>C c.*407A>C (n.*407A>C) c.557A>C (p.Gln186Pro) n.259+2404T>G c.578A>C (p.Gln193Pro) c.467A>C (p.Gln156Pro) c.505-63920A>C (n.505-63920A>C) | |
10 | g.74525362A>G | CA377398046 | ADK | c.662A>G (p.Gln221Arg) c.611A>G (p.Gln204Arg) c.386A>G (p.Gln129Arg) c.556-63920A>G (n.556-63920A>G) c.402A>G c.*407A>G (n.*407A>G) c.557A>G (p.Gln186Arg) n.259+2404T>C c.578A>G (p.Gln193Arg) c.467A>G (p.Gln156Arg) c.505-63920A>G (n.505-63920A>G) | |
10 | g.74525362A>T | CA377398047 | ADK | c.662A>T (p.Gln221Leu) c.611A>T (p.Gln204Leu) c.386A>T (p.Gln129Leu) c.556-63920A>T (n.556-63920A>T) c.402A>T c.*407A>T (n.*407A>T) c.557A>T (p.Gln186Leu) n.259+2404T>A c.578A>T (p.Gln193Leu) c.467A>T (p.Gln156Leu) c.505-63920A>T (n.505-63920A>T) | |
10 | g.74525363G>A | CA470254837 | ADK | c.663G>A (p.Gln221=) c.612G>A (p.Gln204=) c.387G>A (p.Gln129=) c.556-63919G>A (n.556-63919G>A) c.403G>A c.*408G>A (n.*408G>A) c.558G>A (p.Gln186=) n.259+2403C>T c.579G>A (p.Gln193=) c.468G>A (p.Gln156=) c.505-63919G>A (n.505-63919G>A) | |
10 | g.74525363G>C | CA377398048 | ADK | c.663G>C (p.Gln221His) c.612G>C (p.Gln204His) c.387G>C (p.Gln129His) c.556-63919G>C (n.556-63919G>C) c.403G>C c.*408G>C (n.*408G>C) c.558G>C (p.Gln186His) n.259+2403C>G c.579G>C (p.Gln193His) c.468G>C (p.Gln156His) c.505-63919G>C (n.505-63919G>C) | |
10 | g.74525363G>T | CA377398049 | ADK | c.663G>T (p.Gln221His) c.612G>T (p.Gln204His) c.387G>T (p.Gln129His) c.556-63919G>T (n.556-63919G>T) c.403G>T c.*408G>T (n.*408G>T) c.558G>T (p.Gln186His) n.259+2403C>A c.579G>T (p.Gln193His) c.468G>T (p.Gln156His) c.505-63919G>T (n.505-63919G>T) | |
10 | g.74525364T>A | CA377398050 | ADK | c.664T>A (p.Phe222Ile) c.613T>A (p.Phe205Ile) c.388T>A (p.Phe130Ile) c.556-63918T>A (n.556-63918T>A) c.404T>A c.*409T>A (n.*409T>A) c.559T>A (p.Phe187Ile) n.1T>A n.259+2402A>T c.580T>A (p.Phe194Ile) c.469T>A (p.Phe157Ile) c.505-63918T>A (n.505-63918T>A) | |
10 | g.74525364T>C | CA377398051 | ADK | c.664T>C (p.Phe222Leu) c.613T>C (p.Phe205Leu) c.388T>C (p.Phe130Leu) c.556-63918T>C (n.556-63918T>C) c.404T>C c.*409T>C (n.*409T>C) c.559T>C (p.Phe187Leu) n.1T>C n.259+2402A>G c.580T>C (p.Phe194Leu) c.469T>C (p.Phe157Leu) c.505-63918T>C (n.505-63918T>C) | |
10 | g.74525364T>G | CA377398052 | ADK | c.664T>G (p.Phe222Val) c.613T>G (p.Phe205Val) c.388T>G (p.Phe130Val) c.556-63918T>G (n.556-63918T>G) c.404T>G c.*409T>G (n.*409T>G) c.559T>G (p.Phe187Val) n.1T>G n.259+2402A>C c.580T>G (p.Phe194Val) c.469T>G (p.Phe157Val) c.505-63918T>G (n.505-63918T>G) | |
10 | g.74525365T>A | CA377398053 | ADK | c.665T>A (p.Phe222Tyr) c.614T>A (p.Phe205Tyr) c.389T>A (p.Phe130Tyr) c.556-63917T>A (n.556-63917T>A) c.405T>A c.*410T>A (n.*410T>A) c.560T>A (p.Phe187Tyr) n.2T>A n.259+2401A>T c.581T>A (p.Phe194Tyr) c.470T>A (p.Phe157Tyr) c.505-63917T>A (n.505-63917T>A) | |
10 | g.74525365T>C | CA377398054 | ADK | c.665T>C (p.Phe222Ser) c.614T>C (p.Phe205Ser) c.389T>C (p.Phe130Ser) c.556-63917T>C (n.556-63917T>C) c.405T>C c.*410T>C (n.*410T>C) c.560T>C (p.Phe187Ser) n.2T>C n.259+2401A>G c.581T>C (p.Phe194Ser) c.470T>C (p.Phe157Ser) c.505-63917T>C (n.505-63917T>C) | |
10 | g.74525365T>G | CA377398055 | ADK | c.665T>G (p.Phe222Cys) c.614T>G (p.Phe205Cys) c.389T>G (p.Phe130Cys) c.556-63917T>G (n.556-63917T>G) c.405T>G c.*410T>G (n.*410T>G) c.560T>G (p.Phe187Cys) n.2T>G n.259+2401A>C c.581T>G (p.Phe194Cys) c.470T>G (p.Phe157Cys) c.505-63917T>G (n.505-63917T>G) | |
10 | g.74525366C>A | CA377398056 | ADK | c.666C>A (p.Phe222Leu) c.615C>A (p.Phe205Leu) c.390C>A (p.Phe130Leu) c.556-63916C>A (n.556-63916C>A) c.406C>A c.*411C>A (n.*411C>A) c.561C>A (p.Phe187Leu) n.3C>A n.259+2400G>T c.582C>A (p.Phe194Leu) c.471C>A (p.Phe157Leu) c.505-63916C>A (n.505-63916C>A) | |
10 | g.74525366C= | CA1920088411 | ADK | c.666C= (p.Phe222=) c.615C= (p.Phe205=) c.390C= (p.Phe130=) c.556-63916C= (n.556-63916C=) c.406C= c.*411C= (n.*411C=) c.561C= (p.Phe187=) n.3C= n.259+2400G= c.582C= (p.Phe194=) c.471C= (p.Phe157=) c.505-63916C= (n.505-63916C=) | |
10 | g.74525366C>G | CA377398057 | ADK | c.666C>G (p.Phe222Leu) c.615C>G (p.Phe205Leu) c.390C>G (p.Phe130Leu) c.556-63916C>G (n.556-63916C>G) c.406C>G c.*411C>G (n.*411C>G) c.561C>G (p.Phe187Leu) n.3C>G n.259+2400G>C c.582C>G (p.Phe194Leu) c.471C>G (p.Phe157Leu) c.505-63916C>G (n.505-63916C>G) | gnomAD v4 |
10 | g.74525366C>T | CA5564010 | ADK | c.666C>T (p.Phe222=) c.615C>T (p.Phe205=) c.390C>T (p.Phe130=) c.556-63916C>T (n.556-63916C>T) c.406C>T c.*411C>T (n.*411C>T) c.561C>T (p.Phe187=) n.3C>T n.259+2400G>A c.582C>T (p.Phe194=) c.471C>T (p.Phe157=) c.505-63916C>T (n.505-63916C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.74525367T>A | CA377398058 | ADK | c.667T>A (p.Tyr223Asn) c.616T>A (p.Tyr206Asn) c.391T>A (p.Tyr131Asn) c.556-63915T>A (n.556-63915T>A) c.407T>A c.*412T>A (n.*412T>A) c.562T>A (p.Tyr188Asn) n.4T>A n.259+2399A>T c.583T>A (p.Tyr195Asn) c.472T>A (p.Tyr158Asn) c.505-63915T>A (n.505-63915T>A) | |
10 | g.74525367T>C | CA377398059 | ADK | c.667T>C (p.Tyr223His) c.616T>C (p.Tyr206His) c.391T>C (p.Tyr131His) c.556-63915T>C (n.556-63915T>C) c.407T>C c.*412T>C (n.*412T>C) c.562T>C (p.Tyr188His) n.4T>C n.259+2399A>G c.583T>C (p.Tyr195His) c.472T>C (p.Tyr158His) c.505-63915T>C (n.505-63915T>C) | |
10 | g.74525367T>G | CA377398060 | ADK | c.667T>G (p.Tyr223Asp) c.616T>G (p.Tyr206Asp) c.391T>G (p.Tyr131Asp) c.556-63915T>G (n.556-63915T>G) c.407T>G c.*412T>G (n.*412T>G) c.562T>G (p.Tyr188Asp) n.4T>G n.259+2399A>C c.583T>G (p.Tyr195Asp) c.472T>G (p.Tyr158Asp) c.505-63915T>G (n.505-63915T>G) | |
10 | g.74525368A= | CA1920088413 | ADK | c.668A= (p.Tyr223=) c.617A= (p.Tyr206=) c.392A= (p.Tyr131=) c.556-63914A= (n.556-63914A=) c.408A= c.*413A= (n.*413A=) c.563A= (p.Tyr188=) n.5A= n.259+2398T= c.584A= (p.Tyr195=) c.473A= (p.Tyr158=) c.505-63914A= (n.505-63914A=) | |
10 | g.74525368A>C | CA377398063 | ADK | c.668A>C (p.Tyr223Ser) c.617A>C (p.Tyr206Ser) c.392A>C (p.Tyr131Ser) c.556-63914A>C (n.556-63914A>C) c.408A>C c.*413A>C (n.*413A>C) c.563A>C (p.Tyr188Ser) n.5A>C n.259+2398T>G c.584A>C (p.Tyr195Ser) c.473A>C (p.Tyr158Ser) c.505-63914A>C (n.505-63914A>C) | |
10 | g.74525368A>G | CA377398062 | ADK | c.668A>G (p.Tyr223Cys) c.617A>G (p.Tyr206Cys) c.392A>G (p.Tyr131Cys) c.556-63914A>G (n.556-63914A>G) c.408A>G c.*413A>G (n.*413A>G) c.563A>G (p.Tyr188Cys) n.5A>G n.259+2398T>C c.584A>G (p.Tyr195Cys) c.473A>G (p.Tyr158Cys) c.505-63914A>G (n.505-63914A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.74525368A>T | CA377398061 | ADK | c.668A>T (p.Tyr223Phe) c.617A>T (p.Tyr206Phe) c.392A>T (p.Tyr131Phe) c.556-63914A>T (n.556-63914A>T) c.408A>T c.*413A>T (n.*413A>T) c.563A>T (p.Tyr188Phe) n.5A>T n.259+2398T>A c.584A>T (p.Tyr195Phe) c.473A>T (p.Tyr158Phe) c.505-63914A>T (n.505-63914A>T) | |
10 | g.74525369C>A | CA377398064 | ADK | c.669C>A (p.Tyr223Ter) c.618C>A (p.Tyr206Ter) c.393C>A (p.Tyr131Ter) c.556-63913C>A (n.556-63913C>A) c.409C>A c.*414C>A (n.*414C>A) c.564C>A (p.Tyr188Ter) n.6C>A n.259+2397G>T c.585C>A (p.Tyr195Ter) c.474C>A (p.Tyr158Ter) c.505-63913C>A (n.505-63913C>A) | |
10 | g.74525369C>G | CA377398065 | ADK | c.669C>G (p.Tyr223Ter) c.618C>G (p.Tyr206Ter) c.393C>G (p.Tyr131Ter) c.556-63913C>G (n.556-63913C>G) c.409C>G c.*414C>G (n.*414C>G) c.564C>G (p.Tyr188Ter) n.6C>G n.259+2397G>C c.585C>G (p.Tyr195Ter) c.474C>G (p.Tyr158Ter) c.505-63913C>G (n.505-63913C>G) | |
10 | g.74525369C>T | CA470254838 | ADK | c.669C>T (p.Tyr223=) c.618C>T (p.Tyr206=) c.393C>T (p.Tyr131=) c.556-63913C>T (n.556-63913C>T) c.409C>T c.*414C>T (n.*414C>T) c.564C>T (p.Tyr188=) n.6C>T n.259+2397G>A c.585C>T (p.Tyr195=) c.474C>T (p.Tyr158=) c.505-63913C>T (n.505-63913C>T) | |
10 | g.74525370A>C | CA377398066 | ADK | c.670A>C (p.Lys224Gln) c.619A>C (p.Lys207Gln) c.394A>C (p.Lys132Gln) c.556-63912A>C (n.556-63912A>C) c.410A>C c.*415A>C (n.*415A>C) c.565A>C (p.Lys189Gln) n.7A>C n.259+2396T>G c.586A>C (p.Lys196Gln) c.475A>C (p.Lys159Gln) c.505-63912A>C (n.505-63912A>C) | gnomAD v4 |
10 | g.74525370A>G | CA377398067 | ADK | c.670A>G (p.Lys224Glu) c.619A>G (p.Lys207Glu) c.394A>G (p.Lys132Glu) c.556-63912A>G (n.556-63912A>G) c.410A>G c.*415A>G (n.*415A>G) c.565A>G (p.Lys189Glu) n.7A>G n.259+2396T>C c.586A>G (p.Lys196Glu) c.475A>G (p.Lys159Glu) c.505-63912A>G (n.505-63912A>G) | |
10 | g.74525370A>T | CA377398068 | ADK | c.670A>T (p.Lys224Ter) c.619A>T (p.Lys207Ter) c.394A>T (p.Lys132Ter) c.556-63912A>T (n.556-63912A>T) c.410A>T c.*415A>T (n.*415A>T) c.565A>T (p.Lys189Ter) n.7A>T n.259+2396T>A c.586A>T (p.Lys196Ter) c.475A>T (p.Lys159Ter) c.505-63912A>T (n.505-63912A>T) | |
10 | g.74525371A>C | CA377398069 | ADK | c.671A>C (p.Lys224Thr) c.620A>C (p.Lys207Thr) c.395A>C (p.Lys132Thr) c.556-63911A>C (n.556-63911A>C) c.411A>C c.*416A>C (n.*416A>C) c.566A>C (p.Lys189Thr) n.8A>C n.259+2395T>G c.587A>C (p.Lys196Thr) c.476A>C (p.Lys159Thr) c.505-63911A>C (n.505-63911A>C) | |
10 | g.74525371A>G | CA377398070 | ADK | c.671A>G (p.Lys224Arg) c.620A>G (p.Lys207Arg) c.395A>G (p.Lys132Arg) c.556-63911A>G (n.556-63911A>G) c.411A>G c.*416A>G (n.*416A>G) c.566A>G (p.Lys189Arg) n.8A>G n.259+2395T>C c.587A>G (p.Lys196Arg) c.476A>G (p.Lys159Arg) c.505-63911A>G (n.505-63911A>G) | |
10 | g.74525371A>T | CA377398071 | ADK | c.671A>T (p.Lys224Met) c.620A>T (p.Lys207Met) c.395A>T (p.Lys132Met) c.556-63911A>T (n.556-63911A>T) c.411A>T c.*416A>T (n.*416A>T) c.566A>T (p.Lys189Met) n.8A>T n.259+2395T>A c.587A>T (p.Lys196Met) c.476A>T (p.Lys159Met) c.505-63911A>T (n.505-63911A>T) | |
10 | g.74525372G>A | CA470254839 | ADK | c.672G>A (p.Lys224=) c.621G>A (p.Lys207=) c.396G>A (p.Lys132=) c.556-63910G>A (n.556-63910G>A) c.412G>A c.*417G>A (n.*417G>A) c.567G>A (p.Lys189=) n.9G>A n.259+2394C>T c.588G>A (p.Lys196=) c.477G>A (p.Lys159=) c.505-63910G>A (n.505-63910G>A) | |
10 | g.74525372G>C | CA377398072 | ADK | c.672G>C (p.Lys224Asn) c.621G>C (p.Lys207Asn) c.396G>C (p.Lys132Asn) c.556-63910G>C (n.556-63910G>C) c.412G>C c.*417G>C (n.*417G>C) c.567G>C (p.Lys189Asn) n.9G>C n.259+2394C>G c.588G>C (p.Lys196Asn) c.477G>C (p.Lys159Asn) c.505-63910G>C (n.505-63910G>C) | |
10 | g.74525372G>T | CA377398073 | ADK | c.672G>T (p.Lys224Asn) c.621G>T (p.Lys207Asn) c.396G>T (p.Lys132Asn) c.556-63910G>T (n.556-63910G>T) c.412G>T c.*417G>T (n.*417G>T) c.567G>T (p.Lys189Asn) n.9G>T n.259+2394C>A c.588G>T (p.Lys196Asn) c.477G>T (p.Lys159Asn) c.505-63910G>T (n.505-63910G>T) | |
10 | g.74525373dup | CA2609737828 | ADK | c.673dup (p.Glu225GlyfsTer11) c.622dup (p.Glu208GlyfsTer11) c.397dup (p.Glu133GlyfsTer11) c.556-63909dup (n.556-63909dup) c.413dup c.*418dup (n.*418dup) c.568dup (p.Glu190GlyfsTer11) n.10dup n.259+2394dup c.589dup (p.Glu197GlyfsTer11) c.478dup (p.Glu160GlyfsTer11) c.505-63909dup (n.505-63909dup) | gnomAD v4 |
10 | g.74525373G>A | CA377398074 | ADK | c.673G>A (p.Glu225Lys) c.622G>A (p.Glu208Lys) c.397G>A (p.Glu133Lys) c.556-63909G>A (n.556-63909G>A) c.413G>A c.*418G>A (n.*418G>A) c.568G>A (p.Glu190Lys) n.10G>A n.259+2393C>T c.589G>A (p.Glu197Lys) c.478G>A (p.Glu160Lys) c.505-63909G>A (n.505-63909G>A) | |
10 | g.74525373G>C | CA377398075 | ADK | c.673G>C (p.Glu225Gln) c.622G>C (p.Glu208Gln) c.397G>C (p.Glu133Gln) c.556-63909G>C (n.556-63909G>C) c.413G>C c.*418G>C (n.*418G>C) c.568G>C (p.Glu190Gln) n.10G>C n.259+2393C>G c.589G>C (p.Glu197Gln) c.478G>C (p.Glu160Gln) c.505-63909G>C (n.505-63909G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.74525373G= | CA1920088416 | ADK | c.673G= (p.Glu225=) c.622G= (p.Glu208=) c.397G= (p.Glu133=) c.556-63909G= (n.556-63909G=) c.413G= c.*418G= (n.*418G=) c.568G= (p.Glu190=) n.10G= n.259+2393C= c.589G= (p.Glu197=) c.478G= (p.Glu160=) c.505-63909G= (n.505-63909G=) | |
10 | g.74525373G>T | CA377398076 | ADK | c.673G>T (p.Glu225Ter) c.622G>T (p.Glu208Ter) c.397G>T (p.Glu133Ter) c.556-63909G>T (n.556-63909G>T) c.413G>T c.*418G>T (n.*418G>T) c.568G>T (p.Glu190Ter) n.10G>T n.259+2393C>A c.589G>T (p.Glu197Ter) c.478G>T (p.Glu160Ter) c.505-63909G>T (n.505-63909G>T) | gnomAD v4 |
10 | g.74525374A>C | CA377398079 | ADK | c.674A>C (p.Glu225Ala) c.623A>C (p.Glu208Ala) c.398A>C (p.Glu133Ala) c.556-63908A>C (n.556-63908A>C) c.414A>C c.*419A>C (n.*419A>C) c.569A>C (p.Glu190Ala) n.11A>C n.259+2392T>G c.590A>C (p.Glu197Ala) c.479A>C (p.Glu160Ala) c.505-63908A>C (n.505-63908A>C) | |
10 | g.74525374A>G | CA377398078 | ADK | c.674A>G (p.Glu225Gly) c.623A>G (p.Glu208Gly) c.398A>G (p.Glu133Gly) c.556-63908A>G (n.556-63908A>G) c.414A>G c.*419A>G (n.*419A>G) c.569A>G (p.Glu190Gly) n.11A>G n.259+2392T>C c.590A>G (p.Glu197Gly) c.479A>G (p.Glu160Gly) c.505-63908A>G (n.505-63908A>G) | |
10 | g.74525374A>T | CA377398077 | ADK | c.674A>T (p.Glu225Val) c.623A>T (p.Glu208Val) c.398A>T (p.Glu133Val) c.556-63908A>T (n.556-63908A>T) c.414A>T c.*419A>T (n.*419A>T) c.569A>T (p.Glu190Val) n.11A>T n.259+2392T>A c.590A>T (p.Glu197Val) c.479A>T (p.Glu160Val) c.505-63908A>T (n.505-63908A>T) | |
10 | g.74525375A>C | CA377398081 | ADK | c.675A>C (p.Glu225Asp) c.624A>C (p.Glu208Asp) c.399A>C (p.Glu133Asp) c.556-63907A>C (n.556-63907A>C) c.415A>C c.*420A>C (n.*420A>C) c.570A>C (p.Glu190Asp) n.12A>C n.259+2391T>G c.591A>C (p.Glu197Asp) c.480A>C (p.Glu160Asp) c.505-63907A>C (n.505-63907A>C) | |
10 | g.74525375A>G | CA470254840 | ADK | c.675A>G (p.Glu225=) c.624A>G (p.Glu208=) c.399A>G (p.Glu133=) c.556-63907A>G (n.556-63907A>G) c.415A>G c.*420A>G (n.*420A>G) c.570A>G (p.Glu190=) n.12A>G n.259+2391T>C c.591A>G (p.Glu197=) c.480A>G (p.Glu160=) c.505-63907A>G (n.505-63907A>G) | |
10 | g.74525375A>T | CA377398080 | ADK | c.675A>T (p.Glu225Asp) c.624A>T (p.Glu208Asp) c.399A>T (p.Glu133Asp) c.556-63907A>T (n.556-63907A>T) c.415A>T c.*420A>T (n.*420A>T) c.570A>T (p.Glu190Asp) n.12A>T n.259+2391T>A c.591A>T (p.Glu197Asp) c.480A>T (p.Glu160Asp) c.505-63907A>T (n.505-63907A>T) | |
10 | g.74525376T>A | CA377398084 | ADK | c.676T>A (p.Ser226Thr) c.625T>A (p.Ser209Thr) c.400T>A (p.Ser134Thr) c.556-63906T>A (n.556-63906T>A) c.416T>A c.*421T>A (n.*421T>A) c.571T>A (p.Ser191Thr) n.13T>A n.259+2390A>T c.592T>A (p.Ser198Thr) c.481T>A (p.Ser161Thr) c.505-63906T>A (n.505-63906T>A) | |
10 | g.74525376T>C | CA377398082 | ADK | c.676T>C (p.Ser226Pro) c.625T>C (p.Ser209Pro) c.400T>C (p.Ser134Pro) c.556-63906T>C (n.556-63906T>C) c.416T>C c.*421T>C (n.*421T>C) c.571T>C (p.Ser191Pro) n.13T>C n.259+2390A>G c.592T>C (p.Ser198Pro) c.481T>C (p.Ser161Pro) c.505-63906T>C (n.505-63906T>C) | |
10 | g.74525376T>G | CA377398083 | ADK | c.676T>G (p.Ser226Ala) c.625T>G (p.Ser209Ala) c.400T>G (p.Ser134Ala) c.556-63906T>G (n.556-63906T>G) c.416T>G c.*421T>G (n.*421T>G) c.571T>G (p.Ser191Ala) n.13T>G n.259+2390A>C c.592T>G (p.Ser198Ala) c.481T>G (p.Ser161Ala) c.505-63906T>G (n.505-63906T>G) | |
10 | g.74525377C>A | CA377398085 | ADK | c.677C>A (p.Ser226Ter) c.626C>A (p.Ser209Ter) c.401C>A (p.Ser134Ter) c.556-63905C>A (n.556-63905C>A) c.417C>A c.*422C>A (n.*422C>A) c.572C>A (p.Ser191Ter) n.14C>A n.259+2389G>T c.593C>A (p.Ser198Ter) c.482C>A (p.Ser161Ter) c.505-63905C>A (n.505-63905C>A) | |
10 | g.74525377C= | CA1920088418 | ADK | c.677C= (p.Ser226=) c.626C= (p.Ser209=) c.401C= (p.Ser134=) c.556-63905C= (n.556-63905C=) c.417C= c.*422C= (n.*422C=) c.572C= (p.Ser191=) n.14C= n.259+2389G= c.593C= (p.Ser198=) c.482C= (p.Ser161=) c.505-63905C= (n.505-63905C=) | |
10 | g.74525377C>G | CA377398086 | ADK | c.677C>G (p.Ser226Ter) c.626C>G (p.Ser209Ter) c.401C>G (p.Ser134Ter) c.556-63905C>G (n.556-63905C>G) c.417C>G c.*422C>G (n.*422C>G) c.572C>G (p.Ser191Ter) n.14C>G n.259+2389G>C c.593C>G (p.Ser198Ter) c.482C>G (p.Ser161Ter) c.505-63905C>G (n.505-63905C>G) | |
10 | g.74525377C>T | CA377398087 | ADK | c.677C>T (p.Ser226Leu) c.626C>T (p.Ser209Leu) c.401C>T (p.Ser134Leu) c.556-63905C>T (n.556-63905C>T) c.417C>T c.*422C>T (n.*422C>T) c.572C>T (p.Ser191Leu) n.14C>T n.259+2389G>A c.593C>T (p.Ser198Leu) c.482C>T (p.Ser161Leu) c.505-63905C>T (n.505-63905C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.74525378A= | CA1920088419 | ADK | c.678A= (p.Ser226=) c.627A= (p.Ser209=) c.402A= (p.Ser134=) c.556-63904A= (n.556-63904A=) c.418A= c.*423A= (n.*423A=) c.573A= (p.Ser191=) n.15A= n.259+2388T= c.594A= (p.Ser198=) c.483A= (p.Ser161=) c.505-63904A= (n.505-63904A=) | |
10 | g.74525378A>C | CA470254841 | ADK | c.678A>C (p.Ser226=) c.627A>C (p.Ser209=) c.402A>C (p.Ser134=) c.556-63904A>C (n.556-63904A>C) c.418A>C c.*423A>C (n.*423A>C) c.573A>C (p.Ser191=) n.15A>C n.259+2388T>G c.594A>C (p.Ser198=) c.483A>C (p.Ser161=) c.505-63904A>C (n.505-63904A>C) | |
10 | g.74525378A>G | CA5564011 | ADK | c.678A>G (p.Ser226=) c.627A>G (p.Ser209=) c.402A>G (p.Ser134=) c.556-63904A>G (n.556-63904A>G) c.418A>G c.*423A>G (n.*423A>G) c.573A>G (p.Ser191=) n.15A>G n.259+2388T>C c.594A>G (p.Ser198=) c.483A>G (p.Ser161=) c.505-63904A>G (n.505-63904A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.74525378A>T | CA470254842 | ADK | c.678A>T (p.Ser226=) c.627A>T (p.Ser209=) c.402A>T (p.Ser134=) c.556-63904A>T (n.556-63904A>T) c.418A>T c.*423A>T (n.*423A>T) c.573A>T (p.Ser191=) n.15A>T n.259+2388T>A c.594A>T (p.Ser198=) c.483A>T (p.Ser161=) c.505-63904A>T (n.505-63904A>T) | |
10 | g.74525379T>A | CA377398088 | ADK | c.679T>A (p.Leu227Met) c.628T>A (p.Leu210Met) c.403T>A (p.Leu135Met) c.556-63903T>A (n.556-63903T>A) c.419T>A c.*424T>A (n.*424T>A) c.574T>A (p.Leu192Met) n.16T>A n.259+2387A>T c.595T>A (p.Leu199Met) c.484T>A (p.Leu162Met) c.505-63903T>A (n.505-63903T>A) | |
10 | g.74525379T>C | CA470254843 | ADK | c.679T>C (p.Leu227=) c.628T>C (p.Leu210=) c.403T>C (p.Leu135=) c.556-63903T>C (n.556-63903T>C) c.419T>C c.*424T>C (n.*424T>C) c.574T>C (p.Leu192=) n.16T>C n.259+2387A>G c.595T>C (p.Leu199=) c.484T>C (p.Leu162=) c.505-63903T>C (n.505-63903T>C) | ClinVar |
10 | g.74525379T>G | CA377398089 | ADK | c.679T>G (p.Leu227Val) c.628T>G (p.Leu210Val) c.403T>G (p.Leu135Val) c.556-63903T>G (n.556-63903T>G) c.419T>G c.*424T>G (n.*424T>G) c.574T>G (p.Leu192Val) n.16T>G n.259+2387A>C c.595T>G (p.Leu199Val) c.484T>G (p.Leu162Val) c.505-63903T>G (n.505-63903T>G) | |
10 | g.74525380T>A | CA377398090 | ADK | c.680T>A (p.Leu227Ter) c.629T>A (p.Leu210Ter) c.404T>A (p.Leu135Ter) c.556-63902T>A (n.556-63902T>A) c.420T>A c.*425T>A (n.*425T>A) c.575T>A (p.Leu192Ter) n.17T>A n.259+2386A>T c.596T>A (p.Leu199Ter) c.485T>A (p.Leu162Ter) c.505-63902T>A (n.505-63902T>A) | |
10 | g.74525380T>C | CA377398091 | ADK | c.680T>C (p.Leu227Ser) c.629T>C (p.Leu210Ser) c.404T>C (p.Leu135Ser) c.556-63902T>C (n.556-63902T>C) c.420T>C c.*425T>C (n.*425T>C) c.575T>C (p.Leu192Ser) n.17T>C n.259+2386A>G c.596T>C (p.Leu199Ser) c.485T>C (p.Leu162Ser) c.505-63902T>C (n.505-63902T>C) | |
10 | g.74525380T>G | CA377398092 | ADK | c.680T>G (p.Leu227Trp) c.629T>G (p.Leu210Trp) c.404T>G (p.Leu135Trp) c.556-63902T>G (n.556-63902T>G) c.420T>G c.*425T>G (n.*425T>G) c.575T>G (p.Leu192Trp) n.17T>G n.259+2386A>C c.596T>G (p.Leu199Trp) c.485T>G (p.Leu162Trp) c.505-63902T>G (n.505-63902T>G) | |
10 | g.74525381G>A | CA470254844 | ADK | c.681G>A (p.Leu227=) c.630G>A (p.Leu210=) c.405G>A (p.Leu135=) c.556-63901G>A (n.556-63901G>A) c.421G>A c.*426G>A (n.*426G>A) c.576G>A (p.Leu192=) n.18G>A n.259+2385C>T c.597G>A (p.Leu199=) c.486G>A (p.Leu162=) c.505-63901G>A (n.505-63901G>A) | gnomAD v4 |
10 | g.74525381G>C | CA377398093 | ADK | c.681G>C (p.Leu227Phe) c.630G>C (p.Leu210Phe) c.405G>C (p.Leu135Phe) c.556-63901G>C (n.556-63901G>C) c.421G>C c.*426G>C (n.*426G>C) c.576G>C (p.Leu192Phe) n.18G>C n.259+2385C>G c.597G>C (p.Leu199Phe) c.486G>C (p.Leu162Phe) c.505-63901G>C (n.505-63901G>C) | |
10 | g.74525381G>T | CA377398094 | ADK | c.681G>T (p.Leu227Phe) c.630G>T (p.Leu210Phe) c.405G>T (p.Leu135Phe) c.556-63901G>T (n.556-63901G>T) c.421G>T c.*426G>T (n.*426G>T) c.576G>T (p.Leu192Phe) n.18G>T n.259+2385C>A c.597G>T (p.Leu199Phe) c.486G>T (p.Leu162Phe) c.505-63901G>T (n.505-63901G>T) | |
10 | g.74525382A= | CA1920088420 | ADK | c.682A= (p.Met228=) c.631A= (p.Met211=) c.406A= (p.Met136=) c.556-63900A= (n.556-63900A=) c.422A= c.*427A= (n.*427A=) c.577A= (p.Met193=) n.19A= n.259+2384T= c.598A= (p.Met200=) c.487A= (p.Met163=) c.505-63900A= (n.505-63900A=) | |
10 | g.74525382A>C | CA377398097 | ADK | c.682A>C (p.Met228Leu) c.631A>C (p.Met211Leu) c.406A>C (p.Met136Leu) c.556-63900A>C (n.556-63900A>C) c.422A>C c.*427A>C (n.*427A>C) c.577A>C (p.Met193Leu) n.19A>C n.259+2384T>G c.598A>C (p.Met200Leu) c.487A>C (p.Met163Leu) c.505-63900A>C (n.505-63900A>C) | |
10 | g.74525382A>G | CA377398095 | ADK | c.682A>G (p.Met228Val) c.631A>G (p.Met211Val) c.406A>G (p.Met136Val) c.556-63900A>G (n.556-63900A>G) c.422A>G c.*427A>G (n.*427A>G) c.577A>G (p.Met193Val) n.19A>G n.259+2384T>C c.598A>G (p.Met200Val) c.487A>G (p.Met163Val) c.505-63900A>G (n.505-63900A>G) | |
10 | g.74525382A>T | CA377398096 | ADK | c.682A>T (p.Met228Leu) c.631A>T (p.Met211Leu) c.406A>T (p.Met136Leu) c.556-63900A>T (n.556-63900A>T) c.422A>T c.*427A>T (n.*427A>T) c.577A>T (p.Met193Leu) n.19A>T n.259+2384T>A c.598A>T (p.Met200Leu) c.487A>T (p.Met163Leu) c.505-63900A>T (n.505-63900A>T) | dbSNP gnomAD v4 |
10 | g.74525383T>A | CA377398098 | ADK | c.683T>A (p.Met228Lys) c.632T>A (p.Met211Lys) c.407T>A (p.Met136Lys) c.556-63899T>A (n.556-63899T>A) c.423T>A c.*428T>A (n.*428T>A) c.578T>A (p.Met193Lys) n.20T>A n.259+2383A>T c.599T>A (p.Met200Lys) c.488T>A (p.Met163Lys) c.505-63899T>A (n.505-63899T>A) | dbSNP gnomAD v2 |
10 | g.74525383T>C | CA209874924 | ADK | c.683T>C (p.Met228Thr) c.632T>C (p.Met211Thr) c.407T>C (p.Met136Thr) c.556-63899T>C (n.556-63899T>C) c.423T>C c.*428T>C (n.*428T>C) c.578T>C (p.Met193Thr) n.20T>C n.259+2383A>G c.599T>C (p.Met200Thr) c.488T>C (p.Met163Thr) c.505-63899T>C (n.505-63899T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.74525383T>G | CA377398099 | ADK | c.683T>G (p.Met228Arg) c.632T>G (p.Met211Arg) c.407T>G (p.Met136Arg) c.556-63899T>G (n.556-63899T>G) c.423T>G c.*428T>G (n.*428T>G) c.578T>G (p.Met193Arg) n.20T>G n.259+2383A>C c.599T>G (p.Met200Arg) c.488T>G (p.Met163Arg) c.505-63899T>G (n.505-63899T>G) | |
10 | g.74525383T= | CA1920088423 | ADK | c.683T= (p.Met228=) c.632T= (p.Met211=) c.407T= (p.Met136=) c.556-63899T= (n.556-63899T=) c.423T= c.*428T= (n.*428T=) c.578T= (p.Met193=) n.20T= n.259+2383A= c.599T= (p.Met200=) c.488T= (p.Met163=) c.505-63899T= (n.505-63899T=) | |
10 | g.74525384G>A | CA377398100 | ADK | c.684G>A (p.Met228Ile) c.633G>A (p.Met211Ile) c.408G>A (p.Met136Ile) c.556-63898G>A (n.556-63898G>A) c.424G>A c.*429G>A (n.*429G>A) c.579G>A (p.Met193Ile) n.21G>A n.259+2382C>T c.600G>A (p.Met200Ile) c.489G>A (p.Met163Ile) c.505-63898G>A (n.505-63898G>A) | |
10 | g.74525384G>C | CA377398101 | ADK | c.684G>C (p.Met228Ile) c.633G>C (p.Met211Ile) c.408G>C (p.Met136Ile) c.556-63898G>C (n.556-63898G>C) c.424G>C c.*429G>C (n.*429G>C) c.579G>C (p.Met193Ile) n.21G>C n.259+2382C>G c.600G>C (p.Met200Ile) c.489G>C (p.Met163Ile) c.505-63898G>C (n.505-63898G>C) | |
10 | g.74525384G>T | CA377398102 | ADK | c.684G>T (p.Met228Ile) c.633G>T (p.Met211Ile) c.408G>T (p.Met136Ile) c.556-63898G>T (n.556-63898G>T) c.424G>T c.*429G>T (n.*429G>T) c.579G>T (p.Met193Ile) n.21G>T n.259+2382C>A c.600G>T (p.Met200Ile) c.489G>T (p.Met163Ile) c.505-63898G>T (n.505-63898G>T) | |
10 | g.74525385A= | CA1920088426 | ADK | c.685A= (p.Lys229=) c.634A= (p.Lys212=) c.409A= (p.Lys137=) c.556-63897A= (n.556-63897A=) c.425A= c.*430A= (n.*430A=) c.580A= (p.Lys194=) n.22A= n.259+2381T= c.601A= (p.Lys201=) c.490A= (p.Lys164=) c.505-63897A= (n.505-63897A=) | |
10 | g.74525385A>C | CA377398103 | ADK | c.685A>C (p.Lys229Gln) c.634A>C (p.Lys212Gln) c.409A>C (p.Lys137Gln) c.556-63897A>C (n.556-63897A>C) c.425A>C c.*430A>C (n.*430A>C) c.580A>C (p.Lys194Gln) n.22A>C n.259+2381T>G c.601A>C (p.Lys201Gln) c.490A>C (p.Lys164Gln) c.505-63897A>C (n.505-63897A>C) | |
10 | g.74525385A>G | CA377398104 | ADK | c.685A>G (p.Lys229Glu) c.634A>G (p.Lys212Glu) c.409A>G (p.Lys137Glu) c.556-63897A>G (n.556-63897A>G) c.425A>G c.*430A>G (n.*430A>G) c.580A>G (p.Lys194Glu) n.22A>G n.259+2381T>C c.601A>G (p.Lys201Glu) c.490A>G (p.Lys164Glu) c.505-63897A>G (n.505-63897A>G) | |
10 | g.74525385A>T | CA377398105 | ADK | c.685A>T (p.Lys229Ter) c.634A>T (p.Lys212Ter) c.409A>T (p.Lys137Ter) c.556-63897A>T (n.556-63897A>T) c.425A>T c.*430A>T (n.*430A>T) c.580A>T (p.Lys194Ter) n.22A>T n.259+2381T>A c.601A>T (p.Lys201Ter) c.490A>T (p.Lys164Ter) c.505-63897A>T (n.505-63897A>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.74525386A= | CA1920088429 | ADK | c.686A= (p.Lys229=) c.635A= (p.Lys212=) c.410A= (p.Lys137=) c.556-63896A= (n.556-63896A=) c.426A= c.*431A= (n.*431A=) c.581A= (p.Lys194=) n.23A= n.259+2380T= c.602A= (p.Lys201=) c.491A= (p.Lys164=) c.505-63896A= (n.505-63896A=) | |
10 | g.74525386A>C | CA377398106 | ADK | c.686A>C (p.Lys229Thr) c.635A>C (p.Lys212Thr) c.410A>C (p.Lys137Thr) c.556-63896A>C (n.556-63896A>C) c.426A>C c.*431A>C (n.*431A>C) c.581A>C (p.Lys194Thr) n.23A>C n.259+2380T>G c.602A>C (p.Lys201Thr) c.491A>C (p.Lys164Thr) c.505-63896A>C (n.505-63896A>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.74525386A>G | CA377398107 | ADK | c.686A>G (p.Lys229Arg) c.635A>G (p.Lys212Arg) c.410A>G (p.Lys137Arg) c.556-63896A>G (n.556-63896A>G) c.426A>G c.*431A>G (n.*431A>G) c.581A>G (p.Lys194Arg) n.23A>G n.259+2380T>C c.602A>G (p.Lys201Arg) c.491A>G (p.Lys164Arg) c.505-63896A>G (n.505-63896A>G) | gnomAD v4 |
10 | g.74525386A>T | CA377398108 | ADK | c.686A>T (p.Lys229Ile) c.635A>T (p.Lys212Ile) c.410A>T (p.Lys137Ile) c.556-63896A>T (n.556-63896A>T) c.426A>T c.*431A>T (n.*431A>T) c.581A>T (p.Lys194Ile) n.23A>T n.259+2380T>A c.602A>T (p.Lys201Ile) c.491A>T (p.Lys164Ile) c.505-63896A>T (n.505-63896A>T) | |
10 | g.74525387A>C | CA377398109 | ADK | c.687A>C (p.Lys229Asn) c.636A>C (p.Lys212Asn) c.411A>C (p.Lys137Asn) c.556-63895A>C (n.556-63895A>C) c.427A>C c.*432A>C (n.*432A>C) c.582A>C (p.Lys194Asn) n.24A>C n.259+2379T>G c.603A>C (p.Lys201Asn) c.492A>C (p.Lys164Asn) c.505-63895A>C (n.505-63895A>C) | |
10 | g.74525387A>G | CA470254845 | ADK | c.687A>G (p.Lys229=) c.636A>G (p.Lys212=) c.411A>G (p.Lys137=) c.556-63895A>G (n.556-63895A>G) c.427A>G c.*432A>G (n.*432A>G) c.582A>G (p.Lys194=) n.24A>G n.259+2379T>C c.603A>G (p.Lys201=) c.492A>G (p.Lys164=) c.505-63895A>G (n.505-63895A>G) | |
10 | g.74525387A>T | CA377398110 | ADK | c.687A>T (p.Lys229Asn) c.636A>T (p.Lys212Asn) c.411A>T (p.Lys137Asn) c.556-63895A>T (n.556-63895A>T) c.427A>T c.*432A>T (n.*432A>T) c.582A>T (p.Lys194Asn) n.24A>T n.259+2379T>A c.603A>T (p.Lys201Asn) c.492A>T (p.Lys164Asn) c.505-63895A>T (n.505-63895A>T) | |
10 | g.74525388G>A | CA5564012 | ADK | c.688G>A (p.Val230Ile) c.637G>A (p.Val213Ile) c.412G>A (p.Val138Ile) c.556-63894G>A (n.556-63894G>A) c.428G>A c.*433G>A (n.*433G>A) c.583G>A (p.Val195Ile) n.25G>A n.259+2378C>T c.604G>A (p.Val202Ile) c.493G>A (p.Val165Ile) c.505-63894G>A (n.505-63894G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.74525388G>C | CA377398111 | ADK | c.688G>C (p.Val230Leu) c.637G>C (p.Val213Leu) c.412G>C (p.Val138Leu) c.556-63894G>C (n.556-63894G>C) c.428G>C c.*433G>C (n.*433G>C) c.583G>C (p.Val195Leu) n.25G>C n.259+2378C>G c.604G>C (p.Val202Leu) c.493G>C (p.Val165Leu) c.505-63894G>C (n.505-63894G>C) | |
10 | g.74525388G= | CA1920088431 | ADK | c.688G= (p.Val230=) c.637G= (p.Val213=) c.412G= (p.Val138=) c.556-63894G= (n.556-63894G=) c.428G= c.*433G= (n.*433G=) c.583G= (p.Val195=) n.25G= n.259+2378C= c.604G= (p.Val202=) c.493G= (p.Val165=) c.505-63894G= (n.505-63894G=) | |
10 | g.74525388G>T | CA377398112 | ADK | c.688G>T (p.Val230Phe) c.637G>T (p.Val213Phe) c.412G>T (p.Val138Phe) c.556-63894G>T (n.556-63894G>T) c.428G>T c.*433G>T (n.*433G>T) c.583G>T (p.Val195Phe) n.25G>T n.259+2378C>A c.604G>T (p.Val202Phe) c.493G>T (p.Val165Phe) c.505-63894G>T (n.505-63894G>T) | |
10 | g.74525389T>A | CA377398113 | ADK | c.689T>A (p.Val230Asp) c.638T>A (p.Val213Asp) c.413T>A (p.Val138Asp) c.556-63893T>A (n.556-63893T>A) c.429T>A c.*434T>A (n.*434T>A) c.584T>A (p.Val195Asp) n.26T>A n.259+2377A>T c.605T>A (p.Val202Asp) c.494T>A (p.Val165Asp) c.505-63893T>A (n.505-63893T>A) | |
10 | g.74525389T>C | CA377398114 | ADK | c.689T>C (p.Val230Ala) c.638T>C (p.Val213Ala) c.413T>C (p.Val138Ala) c.556-63893T>C (n.556-63893T>C) c.429T>C c.*434T>C (n.*434T>C) c.584T>C (p.Val195Ala) n.26T>C n.259+2377A>G c.605T>C (p.Val202Ala) c.494T>C (p.Val165Ala) c.505-63893T>C (n.505-63893T>C) | |
10 | g.74525389T>G | CA377398115 | ADK | c.689T>G (p.Val230Gly) c.638T>G (p.Val213Gly) c.413T>G (p.Val138Gly) c.556-63893T>G (n.556-63893T>G) c.429T>G c.*434T>G (n.*434T>G) c.584T>G (p.Val195Gly) n.26T>G n.259+2377A>C c.605T>G (p.Val202Gly) c.494T>G (p.Val165Gly) c.505-63893T>G (n.505-63893T>G) | |
10 | g.74525390T>A | CA470254846 | ADK | c.690T>A (p.Val230=) c.639T>A (p.Val213=) c.414T>A (p.Val138=) c.556-63892T>A (n.556-63892T>A) c.430T>A c.*435T>A (n.*435T>A) c.585T>A (p.Val195=) n.27T>A n.259+2376A>T c.606T>A (p.Val202=) c.495T>A (p.Val165=) c.505-63892T>A (n.505-63892T>A) | |
10 | g.74525390T>C | CA470254848 | ADK | c.690T>C (p.Val230=) c.639T>C (p.Val213=) c.414T>C (p.Val138=) c.556-63892T>C (n.556-63892T>C) c.430T>C c.*435T>C (n.*435T>C) c.585T>C (p.Val195=) n.27T>C n.259+2376A>G c.606T>C (p.Val202=) c.495T>C (p.Val165=) c.505-63892T>C (n.505-63892T>C) | |
10 | g.74525390T>G | CA470254847 | ADK | c.690T>G (p.Val230=) c.639T>G (p.Val213=) c.414T>G (p.Val138=) c.556-63892T>G (n.556-63892T>G) c.430T>G c.*435T>G (n.*435T>G) c.585T>G (p.Val195=) n.27T>G n.259+2376A>C c.606T>G (p.Val202=) c.495T>G (p.Val165=) c.505-63892T>G (n.505-63892T>G) | |
10 | g.74525391A>C | CA377398116 | ADK | c.691A>C (p.Met231Leu) c.640A>C (p.Met214Leu) c.415A>C (p.Met139Leu) c.556-63891A>C (n.556-63891A>C) c.431A>C c.*436A>C (n.*436A>C) c.586A>C (p.Met196Leu) n.28A>C n.259+2375T>G c.607A>C (p.Met203Leu) c.496A>C (p.Met166Leu) c.505-63891A>C (n.505-63891A>C) | |
10 | g.74525391A>G | CA377398117 | ADK | c.691A>G (p.Met231Val) c.640A>G (p.Met214Val) c.415A>G (p.Met139Val) c.556-63891A>G (n.556-63891A>G) c.431A>G c.*436A>G (n.*436A>G) c.586A>G (p.Met196Val) n.28A>G n.259+2375T>C c.607A>G (p.Met203Val) c.496A>G (p.Met166Val) c.505-63891A>G (n.505-63891A>G) | |
10 | g.74525391A>T | CA377398118 | ADK | c.691A>T (p.Met231Leu) c.640A>T (p.Met214Leu) c.415A>T (p.Met139Leu) c.556-63891A>T (n.556-63891A>T) c.431A>T c.*436A>T (n.*436A>T) c.586A>T (p.Met196Leu) n.28A>T n.259+2375T>A c.607A>T (p.Met203Leu) c.496A>T (p.Met166Leu) c.505-63891A>T (n.505-63891A>T) | |
10 | g.74525392T>A | CA377398119 | ADK | c.692T>A (p.Met231Lys) c.641T>A (p.Met214Lys) c.416T>A (p.Met139Lys) c.556-63890T>A (n.556-63890T>A) c.432T>A c.*437T>A (n.*437T>A) c.587T>A (p.Met196Lys) n.29T>A n.259+2374A>T c.608T>A (p.Met203Lys) c.497T>A (p.Met166Lys) c.505-63890T>A (n.505-63890T>A) | |
10 | g.74525392T>C | CA377398120 | ADK | c.692T>C (p.Met231Thr) c.641T>C (p.Met214Thr) c.416T>C (p.Met139Thr) c.556-63890T>C (n.556-63890T>C) c.432T>C c.*437T>C (n.*437T>C) c.587T>C (p.Met196Thr) n.29T>C n.259+2374A>G c.608T>C (p.Met203Thr) c.497T>C (p.Met166Thr) c.505-63890T>C (n.505-63890T>C) | |
10 | g.74525392T>G | CA377398121 | ADK | c.692T>G (p.Met231Arg) c.641T>G (p.Met214Arg) c.416T>G (p.Met139Arg) c.556-63890T>G (n.556-63890T>G) c.432T>G c.*437T>G (n.*437T>G) c.587T>G (p.Met196Arg) n.29T>G n.259+2374A>C c.608T>G (p.Met203Arg) c.497T>G (p.Met166Arg) c.505-63890T>G (n.505-63890T>G) | |
10 | g.74525393G>A | CA377398123 | ADK | c.693G>A (p.Met231Ile) c.642G>A (p.Met214Ile) c.417G>A (p.Met139Ile) c.556-63889G>A (n.556-63889G>A) c.433G>A c.*438G>A (n.*438G>A) c.588G>A (p.Met196Ile) n.30G>A n.259+2373C>T c.609G>A (p.Met203Ile) c.498G>A (p.Met166Ile) c.505-63889G>A (n.505-63889G>A) | gnomAD v4 |
10 | g.74525393G>C | CA377398124 | ADK | c.693G>C (p.Met231Ile) c.642G>C (p.Met214Ile) c.417G>C (p.Met139Ile) c.556-63889G>C (n.556-63889G>C) c.433G>C c.*438G>C (n.*438G>C) c.588G>C (p.Met196Ile) n.30G>C n.259+2373C>G c.609G>C (p.Met203Ile) c.498G>C (p.Met166Ile) c.505-63889G>C (n.505-63889G>C) | |
10 | g.74525393G>T | CA377398122 | ADK | c.693G>T (p.Met231Ile) c.642G>T (p.Met214Ile) c.417G>T (p.Met139Ile) c.556-63889G>T (n.556-63889G>T) c.433G>T c.*438G>T (n.*438G>T) c.588G>T (p.Met196Ile) n.30G>T n.259+2373C>A c.609G>T (p.Met203Ile) c.498G>T (p.Met166Ile) c.505-63889G>T (n.505-63889G>T) | |
10 | g.74525394C>A | CA377398125 | ADK | c.694C>A (p.Pro232Thr) c.643C>A (p.Pro215Thr) c.418C>A (p.Pro140Thr) c.556-63888C>A (n.556-63888C>A) c.434C>A c.*439C>A (n.*439C>A) c.589C>A (p.Pro197Thr) n.31C>A n.259+2372G>T c.610C>A (p.Pro204Thr) c.499C>A (p.Pro167Thr) c.505-63888C>A (n.505-63888C>A) | gnomAD v4 |
10 | g.74525394C>G | CA377398126 | ADK | c.694C>G (p.Pro232Ala) c.643C>G (p.Pro215Ala) c.418C>G (p.Pro140Ala) c.556-63888C>G (n.556-63888C>G) c.434C>G c.*439C>G (n.*439C>G) c.589C>G (p.Pro197Ala) n.31C>G n.259+2372G>C c.610C>G (p.Pro204Ala) c.499C>G (p.Pro167Ala) c.505-63888C>G (n.505-63888C>G) | |
10 | g.74525394C>T | CA377398127 | ADK | c.694C>T (p.Pro232Ser) c.643C>T (p.Pro215Ser) c.418C>T (p.Pro140Ser) c.556-63888C>T (n.556-63888C>T) c.434C>T c.*439C>T (n.*439C>T) c.589C>T (p.Pro197Ser) n.31C>T n.259+2372G>A c.610C>T (p.Pro204Ser) c.499C>T (p.Pro167Ser) c.505-63888C>T (n.505-63888C>T) | |
10 | g.74525395C>A | CA377398128 | ADK | c.695C>A (p.Pro232His) c.644C>A (p.Pro215His) c.419C>A (p.Pro140His) c.556-63887C>A (n.556-63887C>A) c.435C>A c.*440C>A (n.*440C>A) c.590C>A (p.Pro197His) n.32C>A n.259+2371G>T c.611C>A (p.Pro204His) c.500C>A (p.Pro167His) c.505-63887C>A (n.505-63887C>A) | |
10 | g.74525395C= | CA1920088437 | ADK | c.695C= (p.Pro232=) c.644C= (p.Pro215=) c.419C= (p.Pro140=) c.556-63887C= (n.556-63887C=) c.435C= c.*440C= (n.*440C=) c.590C= (p.Pro197=) n.32C= n.259+2371G= c.611C= (p.Pro204=) c.500C= (p.Pro167=) c.505-63887C= (n.505-63887C=) | |
10 | g.74525395C>G | CA377398129 | ADK | c.695C>G (p.Pro232Arg) c.644C>G (p.Pro215Arg) c.419C>G (p.Pro140Arg) c.556-63887C>G (n.556-63887C>G) c.435C>G c.*440C>G (n.*440C>G) c.590C>G (p.Pro197Arg) n.32C>G n.259+2371G>C c.611C>G (p.Pro204Arg) c.500C>G (p.Pro167Arg) c.505-63887C>G (n.505-63887C>G) | |
10 | g.74525395C>T | CA377398130 | ADK | c.695C>T (p.Pro232Leu) c.644C>T (p.Pro215Leu) c.419C>T (p.Pro140Leu) c.556-63887C>T (n.556-63887C>T) c.435C>T c.*440C>T (n.*440C>T) c.590C>T (p.Pro197Leu) n.32C>T n.259+2371G>A c.611C>T (p.Pro204Leu) c.500C>T (p.Pro167Leu) c.505-63887C>T (n.505-63887C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.74525396T>A | CA470254849 | ADK | c.696T>A (p.Pro232=) c.645T>A (p.Pro215=) c.420T>A (p.Pro140=) c.556-63886T>A (n.556-63886T>A) c.436T>A c.*441T>A (n.*441T>A) c.591T>A (p.Pro197=) n.33T>A n.259+2370A>T c.612T>A (p.Pro204=) c.501T>A (p.Pro167=) c.505-63886T>A (n.505-63886T>A) | |
10 | g.74525396T>C | CA470254850 | ADK | c.696T>C (p.Pro232=) c.645T>C (p.Pro215=) c.420T>C (p.Pro140=) c.556-63886T>C (n.556-63886T>C) c.436T>C c.*441T>C (n.*441T>C) c.591T>C (p.Pro197=) n.33T>C n.259+2370A>G c.612T>C (p.Pro204=) c.501T>C (p.Pro167=) c.505-63886T>C (n.505-63886T>C) | |
10 | g.74525396T>G | CA470254851 | ADK | c.696T>G (p.Pro232=) c.645T>G (p.Pro215=) c.420T>G (p.Pro140=) c.556-63886T>G (n.556-63886T>G) c.436T>G c.*441T>G (n.*441T>G) c.591T>G (p.Pro197=) n.33T>G n.259+2370A>C c.612T>G (p.Pro204=) c.501T>G (p.Pro167=) c.505-63886T>G (n.505-63886T>G) | |
10 | g.74525397T>A | CA377398131 | ADK | c.697T>A (p.Tyr233Asn) c.646T>A (p.Tyr216Asn) c.421T>A (p.Tyr141Asn) c.556-63885T>A (n.556-63885T>A) c.437T>A c.*442T>A (n.*442T>A) c.592T>A (p.Tyr198Asn) n.34T>A n.259+2369A>T c.613T>A (p.Tyr205Asn) c.502T>A (p.Tyr168Asn) c.505-63885T>A (n.505-63885T>A) | |
10 | g.74525397T>C | CA377398133 | ADK | c.697T>C (p.Tyr233His) c.646T>C (p.Tyr216His) c.421T>C (p.Tyr141His) c.556-63885T>C (n.556-63885T>C) c.437T>C c.*442T>C (n.*442T>C) c.592T>C (p.Tyr198His) n.34T>C n.259+2369A>G c.613T>C (p.Tyr205His) c.502T>C (p.Tyr168His) c.505-63885T>C (n.505-63885T>C) | |
10 | g.74525397T>G | CA377398132 | ADK | c.697T>G (p.Tyr233Asp) c.646T>G (p.Tyr216Asp) c.421T>G (p.Tyr141Asp) c.556-63885T>G (n.556-63885T>G) c.437T>G c.*442T>G (n.*442T>G) c.592T>G (p.Tyr198Asp) n.34T>G n.259+2369A>C c.613T>G (p.Tyr205Asp) c.502T>G (p.Tyr168Asp) c.505-63885T>G (n.505-63885T>G) | |
10 | g.74525398A= | CA1920088441 | ADK | c.698A= (p.Tyr233=) c.647A= (p.Tyr216=) c.422A= (p.Tyr141=) c.556-63884A= (n.556-63884A=) c.438A= c.*443A= (n.*443A=) c.593A= (p.Tyr198=) n.35A= n.259+2368T= c.614A= (p.Tyr205=) c.503A= (p.Tyr168=) c.505-63884A= (n.505-63884A=) | |
10 | g.74525398A>C | CA377398134 | ADK | c.698A>C (p.Tyr233Ser) c.647A>C (p.Tyr216Ser) c.422A>C (p.Tyr141Ser) c.556-63884A>C (n.556-63884A>C) c.438A>C c.*443A>C (n.*443A>C) c.593A>C (p.Tyr198Ser) n.35A>C n.259+2368T>G c.614A>C (p.Tyr205Ser) c.503A>C (p.Tyr168Ser) c.505-63884A>C (n.505-63884A>C) | |
10 | g.74525398A>G | CA377398135 | ADK | c.698A>G (p.Tyr233Cys) c.647A>G (p.Tyr216Cys) c.422A>G (p.Tyr141Cys) c.556-63884A>G (n.556-63884A>G) c.438A>G c.*443A>G (n.*443A>G) c.593A>G (p.Tyr198Cys) n.35A>G n.259+2368T>C c.614A>G (p.Tyr205Cys) c.503A>G (p.Tyr168Cys) c.505-63884A>G (n.505-63884A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.74525398A>T | CA377398136 | ADK | c.698A>T (p.Tyr233Phe) c.647A>T (p.Tyr216Phe) c.422A>T (p.Tyr141Phe) c.556-63884A>T (n.556-63884A>T) c.438A>T c.*443A>T (n.*443A>T) c.593A>T (p.Tyr198Phe) n.35A>T n.259+2368T>A c.614A>T (p.Tyr205Phe) c.503A>T (p.Tyr168Phe) c.505-63884A>T (n.505-63884A>T) | |
10 | g.74525399T>A | CA377398137 | ADK | c.699T>A (p.Tyr233Ter) c.648T>A (p.Tyr216Ter) c.423T>A (p.Tyr141Ter) c.556-63883T>A (n.556-63883T>A) c.439T>A c.*444T>A (n.*444T>A) c.594T>A (p.Tyr198Ter) n.36T>A n.259+2367A>T c.615T>A (p.Tyr205Ter) c.504T>A (p.Tyr168Ter) c.505-63883T>A (n.505-63883T>A) | |
10 | g.74525399T>C | CA470254852 | ADK | c.699T>C (p.Tyr233=) c.648T>C (p.Tyr216=) c.423T>C (p.Tyr141=) c.556-63883T>C (n.556-63883T>C) c.439T>C c.*444T>C (n.*444T>C) c.594T>C (p.Tyr198=) n.36T>C n.259+2367A>G c.615T>C (p.Tyr205=) c.504T>C (p.Tyr168=) c.505-63883T>C (n.505-63883T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.74525399T>G | CA377398138 | ADK | c.699T>G (p.Tyr233Ter) c.648T>G (p.Tyr216Ter) c.423T>G (p.Tyr141Ter) c.556-63883T>G (n.556-63883T>G) c.439T>G c.*444T>G (n.*444T>G) c.594T>G (p.Tyr198Ter) n.36T>G n.259+2367A>C c.615T>G (p.Tyr205Ter) c.504T>G (p.Tyr168Ter) c.505-63883T>G (n.505-63883T>G) | |
10 | g.74525399T= | CA1920088442 | ADK | c.699T= (p.Tyr233=) c.648T= (p.Tyr216=) c.423T= (p.Tyr141=) c.556-63883T= (n.556-63883T=) c.439T= c.*444T= (n.*444T=) c.594T= (p.Tyr198=) n.36T= n.259+2367A= c.615T= (p.Tyr205=) c.504T= (p.Tyr168=) c.505-63883T= (n.505-63883T=) | |
10 | g.74525400G>A | CA377398140 | ADK | c.700G>A (p.Val234Ile) c.649G>A (p.Val217Ile) c.424G>A (p.Val142Ile) c.556-63882G>A (n.556-63882G>A) c.440G>A c.*445G>A (n.*445G>A) c.595G>A (p.Val199Ile) n.37G>A n.259+2366C>T c.616G>A (p.Val206Ile) c.505G>A (p.Val169Ile) c.505-63882G>A (n.505-63882G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.74525400G>C | CA377398141 | ADK | c.700G>C (p.Val234Leu) c.649G>C (p.Val217Leu) c.424G>C (p.Val142Leu) c.556-63882G>C (n.556-63882G>C) c.440G>C c.*445G>C (n.*445G>C) c.595G>C (p.Val199Leu) n.37G>C n.259+2366C>G c.616G>C (p.Val206Leu) c.505G>C (p.Val169Leu) c.505-63882G>C (n.505-63882G>C) | |
10 | g.74525400G= | CA1920088444 | ADK | c.700G= (p.Val234=) c.649G= (p.Val217=) c.424G= (p.Val142=) c.556-63882G= (n.556-63882G=) c.440G= c.*445G= (n.*445G=) c.595G= (p.Val199=) n.37G= n.259+2366C= c.616G= (p.Val206=) c.505G= (p.Val169=) c.505-63882G= (n.505-63882G=) | |
10 | g.74525400G>T | CA377398139 | ADK | c.700G>T (p.Val234Phe) c.649G>T (p.Val217Phe) c.424G>T (p.Val142Phe) c.556-63882G>T (n.556-63882G>T) c.440G>T c.*445G>T (n.*445G>T) c.595G>T (p.Val199Phe) n.37G>T n.259+2366C>A c.616G>T (p.Val206Phe) c.505G>T (p.Val169Phe) c.505-63882G>T (n.505-63882G>T) | |
10 | g.74525401T>A | CA377398142 | ADK | c.701T>A (p.Val234Asp) c.650T>A (p.Val217Asp) c.425T>A (p.Val142Asp) c.556-63881T>A (n.556-63881T>A) c.441T>A c.*446T>A (n.*446T>A) c.596T>A (p.Val199Asp) n.38T>A n.259+2365A>T c.617T>A (p.Val206Asp) c.506T>A (p.Val169Asp) c.505-63881T>A (n.505-63881T>A) | |
10 | g.74525401T>C | CA377398144 | ADK | c.701T>C (p.Val234Ala) c.650T>C (p.Val217Ala) c.425T>C (p.Val142Ala) c.556-63881T>C (n.556-63881T>C) c.441T>C c.*446T>C (n.*446T>C) c.596T>C (p.Val199Ala) n.38T>C n.259+2365A>G c.617T>C (p.Val206Ala) c.506T>C (p.Val169Ala) c.505-63881T>C (n.505-63881T>C) | |
10 | g.74525401T>G | CA377398143 | ADK | c.701T>G (p.Val234Gly) c.650T>G (p.Val217Gly) c.425T>G (p.Val142Gly) c.556-63881T>G (n.556-63881T>G) c.441T>G c.*446T>G (n.*446T>G) c.596T>G (p.Val199Gly) n.38T>G n.259+2365A>C c.617T>G (p.Val206Gly) c.506T>G (p.Val169Gly) c.505-63881T>G (n.505-63881T>G) | |
10 | g.74525402T>A | CA470254853 | ADK | c.702T>A (p.Val234=) c.651T>A (p.Val217=) c.426T>A (p.Val142=) c.556-63880T>A (n.556-63880T>A) c.442T>A c.*447T>A (n.*447T>A) c.597T>A (p.Val199=) n.39T>A n.259+2364A>T c.618T>A (p.Val206=) c.507T>A (p.Val169=) c.505-63880T>A (n.505-63880T>A) | |
10 | g.74525402T>C | CA470254854 | ADK | c.702T>C (p.Val234=) c.651T>C (p.Val217=) c.426T>C (p.Val142=) c.556-63880T>C (n.556-63880T>C) c.442T>C c.*447T>C (n.*447T>C) c.597T>C (p.Val199=) n.39T>C n.259+2364A>G c.618T>C (p.Val206=) c.507T>C (p.Val169=) c.505-63880T>C (n.505-63880T>C) | |
10 | g.74525402T>G | CA470254855 | ADK | c.702T>G (p.Val234=) c.651T>G (p.Val217=) c.426T>G (p.Val142=) c.556-63880T>G (n.556-63880T>G) c.442T>G c.*447T>G (n.*447T>G) c.597T>G (p.Val199=) n.39T>G n.259+2364A>C c.618T>G (p.Val206=) c.507T>G (p.Val169=) c.505-63880T>G (n.505-63880T>G) | |
10 | g.74525403G>A | CA377398145 | ADK | c.703G>A (p.Asp235Asn) c.652G>A (p.Asp218Asn) c.427G>A (p.Asp143Asn) c.556-63879G>A (n.556-63879G>A) c.443G>A c.*448G>A (n.*448G>A) c.598G>A (p.Asp200Asn) n.40G>A n.259+2363C>T c.619G>A (p.Asp207Asn) c.508G>A (p.Asp170Asn) c.505-63879G>A (n.505-63879G>A) | |
10 | g.74525403G>C | CA377398146 | ADK | c.703G>C (p.Asp235His) c.652G>C (p.Asp218His) c.427G>C (p.Asp143His) c.556-63879G>C (n.556-63879G>C) c.443G>C c.*448G>C (n.*448G>C) c.598G>C (p.Asp200His) n.40G>C n.259+2363C>G c.619G>C (p.Asp207His) c.508G>C (p.Asp170His) c.505-63879G>C (n.505-63879G>C) | |
10 | g.74525403G>T | CA377398147 | ADK | c.703G>T (p.Asp235Tyr) c.652G>T (p.Asp218Tyr) c.427G>T (p.Asp143Tyr) c.556-63879G>T (n.556-63879G>T) c.443G>T c.*448G>T (n.*448G>T) c.598G>T (p.Asp200Tyr) n.40G>T n.259+2363C>A c.619G>T (p.Asp207Tyr) c.508G>T (p.Asp170Tyr) c.505-63879G>T (n.505-63879G>T) | |
10 | g.74525404A= | CA1920088449 | ADK | c.704A= (p.Asp235=) c.653A= (p.Asp218=) c.428A= (p.Asp143=) c.556-63878A= (n.556-63878A=) c.444A= c.*449A= (n.*449A=) c.599A= (p.Asp200=) n.41A= n.259+2362T= c.620A= (p.Asp207=) c.509A= (p.Asp170=) c.505-63878A= (n.505-63878A=) | |
10 | g.74525404A>C | CA249478 | ADK | c.704A>C (p.Asp235Ala) c.653A>C (p.Asp218Ala) c.428A>C (p.Asp143Ala) c.556-63878A>C (n.556-63878A>C) c.444A>C c.*449A>C (n.*449A>C) c.599A>C (p.Asp200Ala) n.41A>C n.259+2362T>G c.620A>C (p.Asp207Ala) c.509A>C (p.Asp170Ala) c.505-63878A>C (n.505-63878A>C) | ClinVar dbSNP |
10 | g.74525404A>G | CA377398148 | ADK | c.704A>G (p.Asp235Gly) c.653A>G (p.Asp218Gly) c.428A>G (p.Asp143Gly) c.556-63878A>G (n.556-63878A>G) c.444A>G c.*449A>G (n.*449A>G) c.599A>G (p.Asp200Gly) n.41A>G n.259+2362T>C c.620A>G (p.Asp207Gly) c.509A>G (p.Asp170Gly) c.505-63878A>G (n.505-63878A>G) | |
10 | g.74525404A>T | CA377398149 | ADK | c.704A>T (p.Asp235Val) c.653A>T (p.Asp218Val) c.428A>T (p.Asp143Val) c.556-63878A>T (n.556-63878A>T) c.444A>T c.*449A>T (n.*449A>T) c.599A>T (p.Asp200Val) n.41A>T n.259+2362T>A c.620A>T (p.Asp207Val) c.509A>T (p.Asp170Val) c.505-63878A>T (n.505-63878A>T) | |
10 | g.74525405T>A | CA377398150 | ADK | c.705T>A (p.Asp235Glu) c.654T>A (p.Asp218Glu) c.429T>A (p.Asp143Glu) c.556-63877T>A (n.556-63877T>A) c.445T>A c.*450T>A (n.*450T>A) c.600T>A (p.Asp200Glu) n.42T>A n.259+2361A>T c.621T>A (p.Asp207Glu) c.510T>A (p.Asp170Glu) c.505-63877T>A (n.505-63877T>A) | |
10 | g.74525405T>C | CA5564013 | ADK | c.705T>C (p.Asp235=) c.654T>C (p.Asp218=) c.429T>C (p.Asp143=) c.556-63877T>C (n.556-63877T>C) c.445T>C c.*450T>C (n.*450T>C) c.600T>C (p.Asp200=) n.42T>C n.259+2361A>G c.621T>C (p.Asp207=) c.510T>C (p.Asp170=) c.505-63877T>C (n.505-63877T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.74525405T>G | CA377398151 | ADK | c.705T>G (p.Asp235Glu) c.654T>G (p.Asp218Glu) c.429T>G (p.Asp143Glu) c.556-63877T>G (n.556-63877T>G) c.445T>G c.*450T>G (n.*450T>G) c.600T>G (p.Asp200Glu) n.42T>G n.259+2361A>C c.621T>G (p.Asp207Glu) c.510T>G (p.Asp170Glu) c.505-63877T>G (n.505-63877T>G) | |
10 | g.74525405T= | CA1920088455 | ADK | c.705T= (p.Asp235=) c.654T= (p.Asp218=) c.429T= (p.Asp143=) c.556-63877T= (n.556-63877T=) c.445T= c.*450T= (n.*450T=) c.600T= (p.Asp200=) n.42T= n.259+2361A= c.621T= (p.Asp207=) c.510T= (p.Asp170=) c.505-63877T= (n.505-63877T=) | |
10 | g.74525406A>C | CA377398152 | ADK | c.706A>C (p.Ile236Leu) c.655A>C (p.Ile219Leu) c.430A>C (p.Ile144Leu) c.556-63876A>C (n.556-63876A>C) c.446A>C c.*451A>C (n.*451A>C) c.601A>C (p.Ile201Leu) n.43A>C n.259+2360T>G c.622A>C (p.Ile208Leu) c.511A>C (p.Ile171Leu) c.505-63876A>C (n.505-63876A>C) | |
10 | g.74525406A>G | CA377398153 | ADK | c.706A>G (p.Ile236Val) c.655A>G (p.Ile219Val) c.430A>G (p.Ile144Val) c.556-63876A>G (n.556-63876A>G) c.446A>G c.*451A>G (n.*451A>G) c.601A>G (p.Ile201Val) n.43A>G n.259+2360T>C c.622A>G (p.Ile208Val) c.511A>G (p.Ile171Val) c.505-63876A>G (n.505-63876A>G) | gnomAD v4 |
10 | g.74525406A>T | CA377398154 | ADK | c.706A>T (p.Ile236Leu) c.655A>T (p.Ile219Leu) c.430A>T (p.Ile144Leu) c.556-63876A>T (n.556-63876A>T) c.446A>T c.*451A>T (n.*451A>T) c.601A>T (p.Ile201Leu) n.43A>T n.259+2360T>A c.622A>T (p.Ile208Leu) c.511A>T (p.Ile171Leu) c.505-63876A>T (n.505-63876A>T) | |
10 | g.74525407T>A | CA377398156 | ADK | c.707T>A (p.Ile236Lys) c.656T>A (p.Ile219Lys) c.431T>A (p.Ile144Lys) c.556-63875T>A (n.556-63875T>A) c.447T>A c.*452T>A (n.*452T>A) c.602T>A (p.Ile201Lys) n.44T>A n.259+2359A>T c.623T>A (p.Ile208Lys) c.512T>A (p.Ile171Lys) c.505-63875T>A (n.505-63875T>A) | |
10 | g.74525407T>C | CA5564014 | ADK | c.707T>C (p.Ile236Thr) c.656T>C (p.Ile219Thr) c.431T>C (p.Ile144Thr) c.556-63875T>C (n.556-63875T>C) c.447T>C c.*452T>C (n.*452T>C) c.602T>C (p.Ile201Thr) n.44T>C n.259+2359A>G c.623T>C (p.Ile208Thr) c.512T>C (p.Ile171Thr) c.505-63875T>C (n.505-63875T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.74525407T>G | CA377398155 | ADK | c.707T>G (p.Ile236Arg) c.656T>G (p.Ile219Arg) c.431T>G (p.Ile144Arg) c.556-63875T>G (n.556-63875T>G) c.447T>G c.*452T>G (n.*452T>G) c.602T>G (p.Ile201Arg) n.44T>G n.259+2359A>C c.623T>G (p.Ile208Arg) c.512T>G (p.Ile171Arg) c.505-63875T>G (n.505-63875T>G) | |
10 | g.74525407T= | CA1920088459 | ADK | c.707T= (p.Ile236=) c.656T= (p.Ile219=) c.431T= (p.Ile144=) c.556-63875T= (n.556-63875T=) c.447T= c.*452T= (n.*452T=) c.602T= (p.Ile201=) n.44T= n.259+2359A= c.623T= (p.Ile208=) c.512T= (p.Ile171=) c.505-63875T= (n.505-63875T=) | |
10 | g.74525408A>C | CA470254856 | ADK | c.708A>C (p.Ile236=) c.657A>C (p.Ile219=) c.432A>C (p.Ile144=) c.556-63874A>C (n.556-63874A>C) c.448A>C c.*453A>C (n.*453A>C) c.603A>C (p.Ile201=) n.45A>C n.259+2358T>G c.624A>C (p.Ile208=) c.513A>C (p.Ile171=) c.505-63874A>C (n.505-63874A>C) | |
10 | g.74525408A>G | CA377398157 | ADK | c.708A>G (p.Ile236Met) c.657A>G (p.Ile219Met) c.432A>G (p.Ile144Met) c.556-63874A>G (n.556-63874A>G) c.448A>G c.*453A>G (n.*453A>G) c.603A>G (p.Ile201Met) n.45A>G n.259+2358T>C c.624A>G (p.Ile208Met) c.513A>G (p.Ile171Met) c.505-63874A>G (n.505-63874A>G) | gnomAD v4 |
10 | g.74525408A>T | CA470254857 | ADK | c.708A>T (p.Ile236=) c.657A>T (p.Ile219=) c.432A>T (p.Ile144=) c.556-63874A>T (n.556-63874A>T) c.448A>T c.*453A>T (n.*453A>T) c.603A>T (p.Ile201=) n.45A>T n.259+2358T>A c.624A>T (p.Ile208=) c.513A>T (p.Ile171=) c.505-63874A>T (n.505-63874A>T) | |
10 | g.74525409C>A | CA377398158 | ADK | c.709C>A (p.Leu237Ile) c.658C>A (p.Leu220Ile) c.433C>A (p.Leu145Ile) c.556-63873C>A (n.556-63873C>A) c.449C>A c.*454C>A (n.*454C>A) c.604C>A (p.Leu202Ile) n.46C>A n.259+2357G>T c.625C>A (p.Leu209Ile) c.514C>A (p.Leu172Ile) c.505-63873C>A (n.505-63873C>A) | |
10 | g.74525409C>G | CA377398159 | ADK | c.709C>G (p.Leu237Val) c.658C>G (p.Leu220Val) c.433C>G (p.Leu145Val) c.556-63873C>G (n.556-63873C>G) c.449C>G c.*454C>G (n.*454C>G) c.604C>G (p.Leu202Val) n.46C>G n.259+2357G>C c.625C>G (p.Leu209Val) c.514C>G (p.Leu172Val) c.505-63873C>G (n.505-63873C>G) | gnomAD v4 |
10 | g.74525409C>T | CA377398160 | ADK | c.709C>T (p.Leu237Phe) c.658C>T (p.Leu220Phe) c.433C>T (p.Leu145Phe) c.556-63873C>T (n.556-63873C>T) c.449C>T c.*454C>T (n.*454C>T) c.604C>T (p.Leu202Phe) n.46C>T n.259+2357G>A c.625C>T (p.Leu209Phe) c.514C>T (p.Leu172Phe) c.505-63873C>T (n.505-63873C>T) | gnomAD v4 |
10 | g.74525410T>A | CA377398161 | ADK | c.710T>A (p.Leu237His) c.659T>A (p.Leu220His) c.434T>A (p.Leu145His) c.556-63872T>A (n.556-63872T>A) c.450T>A c.*455T>A (n.*455T>A) c.605T>A (p.Leu202His) n.47T>A n.259+2356A>T c.626T>A (p.Leu209His) c.515T>A (p.Leu172His) c.505-63872T>A (n.505-63872T>A) | |
10 | g.74525410T>C | CA377398162 | ADK | c.710T>C (p.Leu237Pro) c.659T>C (p.Leu220Pro) c.434T>C (p.Leu145Pro) c.556-63872T>C (n.556-63872T>C) c.450T>C c.*455T>C (n.*455T>C) c.605T>C (p.Leu202Pro) n.47T>C n.259+2356A>G c.626T>C (p.Leu209Pro) c.515T>C (p.Leu172Pro) c.505-63872T>C (n.505-63872T>C) | |
10 | g.74525410T>G | CA377398163 | ADK | c.710T>G (p.Leu237Arg) c.659T>G (p.Leu220Arg) c.434T>G (p.Leu145Arg) c.556-63872T>G (n.556-63872T>G) c.450T>G c.*455T>G (n.*455T>G) c.605T>G (p.Leu202Arg) n.47T>G n.259+2356A>C c.626T>G (p.Leu209Arg) c.515T>G (p.Leu172Arg) c.505-63872T>G (n.505-63872T>G) | |
10 | g.74525414del | CA2574586163 | ADK | c.714del (p.Phe238LeufsTer24) c.663del (p.Phe221LeufsTer24) c.438del (p.Phe146LeufsTer24) c.556-63868del (n.556-63868del) c.454del c.*459del (n.*459del) c.609del (p.Phe203LeufsTer24) c.663del (p.Phe221LeufsTer?) c.714del (p.Phe238LeufsTer19) n.51del n.259+2356del c.630del (p.Phe210LeufsTer24) c.519del (p.Phe173LeufsTer24) c.505-63868del (n.505-63868del) c.663del (p.Phe221LeufsTer19) c.714del (p.Phe238LeufsTer?) |