Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |