UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.74525306T>A | CA377397920 | ADK | c.606T>A (p.His202Gln) c.555T>A (p.His185Gln) c.330T>A (p.His110Gln) c.556-63976T>A (n.556-63976T>A) c.346T>A c.*351T>A (n.*351T>A) c.501T>A (p.His167Gln) n.259+2460A>T c.522T>A (p.His174Gln) c.411T>A (p.His137Gln) c.505-63976T>A (n.505-63976T>A) | gnomAD v4 |
| 10 | g.74525306T>C | CA470254799 | ADK | c.606T>C (p.His202=) c.555T>C (p.His185=) c.330T>C (p.His110=) c.556-63976T>C (n.556-63976T>C) c.346T>C c.*351T>C (n.*351T>C) c.501T>C (p.His167=) n.259+2460A>G c.522T>C (p.His174=) c.411T>C (p.His137=) c.505-63976T>C (n.505-63976T>C) | |
| 10 | g.74525306T>G | CA5564004 | ADK | c.606T>G (p.His202Gln) c.555T>G (p.His185Gln) c.330T>G (p.His110Gln) c.556-63976T>G (n.556-63976T>G) c.346T>G c.*351T>G (n.*351T>G) c.501T>G (p.His167Gln) n.259+2460A>C c.522T>G (p.His174Gln) c.411T>G (p.His137Gln) c.505-63976T>G (n.505-63976T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.74525306T= | CA1920088371 | ADK | c.606T= (p.His202=) c.555T= (p.His185=) c.330T= (p.His110=) c.556-63976T= (n.556-63976T=) c.346T= c.*351T= (n.*351T=) c.501T= (p.His167=) n.259+2460A= c.522T= (p.His174=) c.411T= (p.His137=) c.505-63976T= (n.505-63976T=) | |
| 10 | g.74525307G>A | CA377397921 | ADK | c.607G>A (p.Ala203Thr) c.556G>A (p.Ala186Thr) c.331G>A (p.Ala111Thr) c.556-63975G>A (n.556-63975G>A) c.347G>A c.*352G>A (n.*352G>A) c.502G>A (p.Ala168Thr) n.259+2459C>T c.523G>A (p.Ala175Thr) c.412G>A (p.Ala138Thr) c.505-63975G>A (n.505-63975G>A) | |
| 10 | g.74525307G>C | CA377397922 | ADK | c.607G>C (p.Ala203Pro) c.556G>C (p.Ala186Pro) c.331G>C (p.Ala111Pro) c.556-63975G>C (n.556-63975G>C) c.347G>C c.*352G>C (n.*352G>C) c.502G>C (p.Ala168Pro) n.259+2459C>G c.523G>C (p.Ala175Pro) c.412G>C (p.Ala138Pro) c.505-63975G>C (n.505-63975G>C) | |
| 10 | g.74525307G>T | CA377397923 | ADK | c.607G>T (p.Ala203Ser) c.556G>T (p.Ala186Ser) c.331G>T (p.Ala111Ser) c.556-63975G>T (n.556-63975G>T) c.347G>T c.*352G>T (n.*352G>T) c.502G>T (p.Ala168Ser) n.259+2459C>A c.523G>T (p.Ala175Ser) c.412G>T (p.Ala138Ser) c.505-63975G>T (n.505-63975G>T) | |
| 10 | g.74525308C>A | CA377397924 | ADK | c.608C>A (p.Ala203Asp) c.557C>A (p.Ala186Asp) c.332C>A (p.Ala111Asp) c.556-63974C>A (n.556-63974C>A) c.348C>A c.*353C>A (n.*353C>A) c.503C>A (p.Ala168Asp) n.259+2458G>T c.524C>A (p.Ala175Asp) c.413C>A (p.Ala138Asp) c.505-63974C>A (n.505-63974C>A) | gnomAD v4 |
| 10 | g.74525308C>G | CA377397925 | ADK | c.608C>G (p.Ala203Gly) c.557C>G (p.Ala186Gly) c.332C>G (p.Ala111Gly) c.556-63974C>G (n.556-63974C>G) c.348C>G c.*353C>G (n.*353C>G) c.503C>G (p.Ala168Gly) n.259+2458G>C c.524C>G (p.Ala175Gly) c.413C>G (p.Ala138Gly) c.505-63974C>G (n.505-63974C>G) | |
| 10 | g.74525308C>T | CA377397926 | ADK | c.608C>T (p.Ala203Val) c.557C>T (p.Ala186Val) c.332C>T (p.Ala111Val) c.556-63974C>T (n.556-63974C>T) c.348C>T c.*353C>T (n.*353C>T) c.503C>T (p.Ala168Val) n.259+2458G>A c.524C>T (p.Ala175Val) c.413C>T (p.Ala138Val) c.505-63974C>T (n.505-63974C>T) | |
| 10 | g.74525309T>A | CA470254801 | ADK | c.609T>A (p.Ala203=) c.558T>A (p.Ala186=) c.333T>A (p.Ala111=) c.556-63973T>A (n.556-63973T>A) c.349T>A c.*354T>A (n.*354T>A) c.504T>A (p.Ala168=) n.259+2457A>T c.525T>A (p.Ala175=) c.414T>A (p.Ala138=) c.505-63973T>A (n.505-63973T>A) | |
| 10 | g.74525309T>C | CA470254802 | ADK | c.609T>C (p.Ala203=) c.558T>C (p.Ala186=) c.333T>C (p.Ala111=) c.556-63973T>C (n.556-63973T>C) c.349T>C c.*354T>C (n.*354T>C) c.504T>C (p.Ala168=) n.259+2457A>G c.525T>C (p.Ala175=) c.414T>C (p.Ala138=) c.505-63973T>C (n.505-63973T>C) | gnomAD v4 |
| 10 | g.74525309T>G | CA470254803 | ADK | c.609T>G (p.Ala203=) c.558T>G (p.Ala186=) c.333T>G (p.Ala111=) c.556-63973T>G (n.556-63973T>G) c.349T>G c.*354T>G (n.*354T>G) c.504T>G (p.Ala168=) n.259+2457A>C c.525T>G (p.Ala175=) c.414T>G (p.Ala138=) c.505-63973T>G (n.505-63973T>G) | |
| 10 | g.74525310T>A | CA377397927 | ADK | c.610T>A (p.Ser204Thr) c.559T>A (p.Ser187Thr) c.334T>A (p.Ser112Thr) c.556-63972T>A (n.556-63972T>A) c.350T>A c.*355T>A (n.*355T>A) c.505T>A (p.Ser169Thr) n.259+2456A>T c.526T>A (p.Ser176Thr) c.415T>A (p.Ser139Thr) c.505-63972T>A (n.505-63972T>A) | |
| 10 | g.74525310T>C | CA377397928 | ADK | c.610T>C (p.Ser204Pro) c.559T>C (p.Ser187Pro) c.334T>C (p.Ser112Pro) c.556-63972T>C (n.556-63972T>C) c.350T>C c.*355T>C (n.*355T>C) c.505T>C (p.Ser169Pro) n.259+2456A>G c.526T>C (p.Ser176Pro) c.415T>C (p.Ser139Pro) c.505-63972T>C (n.505-63972T>C) | |
| 10 | g.74525310T>G | CA377397929 | ADK | c.610T>G (p.Ser204Ala) c.559T>G (p.Ser187Ala) c.334T>G (p.Ser112Ala) c.556-63972T>G (n.556-63972T>G) c.350T>G c.*355T>G (n.*355T>G) c.505T>G (p.Ser169Ala) n.259+2456A>C c.526T>G (p.Ser176Ala) c.415T>G (p.Ser139Ala) c.505-63972T>G (n.505-63972T>G) | |
| 10 | g.74525311C>A | CA377397932 | ADK | c.611C>A (p.Ser204Tyr) c.560C>A (p.Ser187Tyr) c.335C>A (p.Ser112Tyr) c.556-63971C>A (n.556-63971C>A) c.351C>A c.*356C>A (n.*356C>A) c.506C>A (p.Ser169Tyr) n.259+2455G>T c.527C>A (p.Ser176Tyr) c.416C>A (p.Ser139Tyr) c.505-63971C>A (n.505-63971C>A) | gnomAD v4 |
| 10 | g.74525311C>G | CA377397931 | ADK | c.611C>G (p.Ser204Cys) c.560C>G (p.Ser187Cys) c.335C>G (p.Ser112Cys) c.556-63971C>G (n.556-63971C>G) c.351C>G c.*356C>G (n.*356C>G) c.506C>G (p.Ser169Cys) n.259+2455G>C c.527C>G (p.Ser176Cys) c.416C>G (p.Ser139Cys) c.505-63971C>G (n.505-63971C>G) | |
| 10 | g.74525311C>T | CA377397930 | ADK | c.611C>T (p.Ser204Phe) c.560C>T (p.Ser187Phe) c.335C>T (p.Ser112Phe) c.556-63971C>T (n.556-63971C>T) c.351C>T c.*356C>T (n.*356C>T) c.506C>T (p.Ser169Phe) n.259+2455G>A c.527C>T (p.Ser176Phe) c.416C>T (p.Ser139Phe) c.505-63971C>T (n.505-63971C>T) | |
| 10 | g.74525312T>A | CA470254805 | ADK | c.612T>A (p.Ser204=) c.561T>A (p.Ser187=) c.336T>A (p.Ser112=) c.556-63970T>A (n.556-63970T>A) c.352T>A c.*357T>A (n.*357T>A) c.507T>A (p.Ser169=) n.259+2454A>T c.528T>A (p.Ser176=) c.417T>A (p.Ser139=) c.505-63970T>A (n.505-63970T>A) | dbSNP |
| 10 | g.74525312T>C | CA470254807 | ADK | c.612T>C (p.Ser204=) c.561T>C (p.Ser187=) c.336T>C (p.Ser112=) c.556-63970T>C (n.556-63970T>C) c.352T>C c.*357T>C (n.*357T>C) c.507T>C (p.Ser169=) n.259+2454A>G c.528T>C (p.Ser176=) c.417T>C (p.Ser139=) c.505-63970T>C (n.505-63970T>C) | |
| 10 | g.74525312T>G | CA470254806 | ADK | c.612T>G (p.Ser204=) c.561T>G (p.Ser187=) c.336T>G (p.Ser112=) c.556-63970T>G (n.556-63970T>G) c.352T>G c.*357T>G (n.*357T>G) c.507T>G (p.Ser169=) n.259+2454A>C c.528T>G (p.Ser176=) c.417T>G (p.Ser139=) c.505-63970T>G (n.505-63970T>G) | |
| 10 | g.74525312T= | CA1920088374 | ADK | c.612T= (p.Ser204=) c.561T= (p.Ser187=) c.336T= (p.Ser112=) c.556-63970T= (n.556-63970T=) c.352T= c.*357T= (n.*357T=) c.507T= (p.Ser169=) n.259+2454A= c.528T= (p.Ser176=) c.417T= (p.Ser139=) c.505-63970T= (n.505-63970T=) | |
| 10 | g.74525313G>A | CA377397933 | ADK | c.613G>A (p.Glu205Lys) c.562G>A (p.Glu188Lys) c.337G>A (p.Glu113Lys) c.556-63969G>A (n.556-63969G>A) c.353G>A c.*358G>A (n.*358G>A) c.508G>A (p.Glu170Lys) n.259+2453C>T c.529G>A (p.Glu177Lys) c.418G>A (p.Glu140Lys) c.505-63969G>A (n.505-63969G>A) | COSMIC |
| 10 | g.74525313G>C | CA377397934 | ADK | c.613G>C (p.Glu205Gln) c.562G>C (p.Glu188Gln) c.337G>C (p.Glu113Gln) c.556-63969G>C (n.556-63969G>C) c.353G>C c.*358G>C (n.*358G>C) c.508G>C (p.Glu170Gln) n.259+2453C>G c.529G>C (p.Glu177Gln) c.418G>C (p.Glu140Gln) c.505-63969G>C (n.505-63969G>C) | |
| 10 | g.74525313G>T | CA377397935 | ADK | c.613G>T (p.Glu205Ter) c.562G>T (p.Glu188Ter) c.337G>T (p.Glu113Ter) c.556-63969G>T (n.556-63969G>T) c.353G>T c.*358G>T (n.*358G>T) c.508G>T (p.Glu170Ter) n.259+2453C>A c.529G>T (p.Glu177Ter) c.418G>T (p.Glu140Ter) c.505-63969G>T (n.505-63969G>T) | |
| 10 | g.74525314A>C | CA377397936 | ADK | c.614A>C (p.Glu205Ala) c.563A>C (p.Glu188Ala) c.338A>C (p.Glu113Ala) c.556-63968A>C (n.556-63968A>C) c.354A>C c.*359A>C (n.*359A>C) c.509A>C (p.Glu170Ala) n.259+2452T>G c.530A>C (p.Glu177Ala) c.419A>C (p.Glu140Ala) c.505-63968A>C (n.505-63968A>C) | |
| 10 | g.74525314A>G | CA377397937 | ADK | c.614A>G (p.Glu205Gly) c.563A>G (p.Glu188Gly) c.338A>G (p.Glu113Gly) c.556-63968A>G (n.556-63968A>G) c.354A>G c.*359A>G (n.*359A>G) c.509A>G (p.Glu170Gly) n.259+2452T>C c.530A>G (p.Glu177Gly) c.419A>G (p.Glu140Gly) c.505-63968A>G (n.505-63968A>G) | |
| 10 | g.74525314A>T | CA377397938 | ADK | c.614A>T (p.Glu205Val) c.563A>T (p.Glu188Val) c.338A>T (p.Glu113Val) c.556-63968A>T (n.556-63968A>T) c.354A>T c.*359A>T (n.*359A>T) c.509A>T (p.Glu170Val) n.259+2452T>A c.530A>T (p.Glu177Val) c.419A>T (p.Glu140Val) c.505-63968A>T (n.505-63968A>T) | |
| 10 | g.74525315A>C | CA377397939 | ADK | c.615A>C (p.Glu205Asp) c.564A>C (p.Glu188Asp) c.339A>C (p.Glu113Asp) c.556-63967A>C (n.556-63967A>C) c.355A>C c.*360A>C (n.*360A>C) c.510A>C (p.Glu170Asp) n.259+2451T>G c.531A>C (p.Glu177Asp) c.420A>C (p.Glu140Asp) c.505-63967A>C (n.505-63967A>C) | |
| 10 | g.74525315A>G | CA470254808 | ADK | c.615A>G (p.Glu205=) c.564A>G (p.Glu188=) c.339A>G (p.Glu113=) c.556-63967A>G (n.556-63967A>G) c.355A>G c.*360A>G (n.*360A>G) c.510A>G (p.Glu170=) n.259+2451T>C c.531A>G (p.Glu177=) c.420A>G (p.Glu140=) c.505-63967A>G (n.505-63967A>G) | |
| 10 | g.74525315A>T | CA377397940 | ADK | c.615A>T (p.Glu205Asp) c.564A>T (p.Glu188Asp) c.339A>T (p.Glu113Asp) c.556-63967A>T (n.556-63967A>T) c.355A>T c.*360A>T (n.*360A>T) c.510A>T (p.Glu170Asp) n.259+2451T>A c.531A>T (p.Glu177Asp) c.420A>T (p.Glu140Asp) c.505-63967A>T (n.505-63967A>T) | |
| 10 | g.74525316A>C | CA377397941 | ADK | c.616A>C (p.Asn206His) c.565A>C (p.Asn189His) c.340A>C (p.Asn114His) c.556-63966A>C (n.556-63966A>C) c.356A>C c.*361A>C (n.*361A>C) c.511A>C (p.Asn171His) n.259+2450T>G c.532A>C (p.Asn178His) c.421A>C (p.Asn141His) c.505-63966A>C (n.505-63966A>C) | |
| 10 | g.74525316A>G | CA377397942 | ADK | c.616A>G (p.Asn206Asp) c.565A>G (p.Asn189Asp) c.340A>G (p.Asn114Asp) c.556-63966A>G (n.556-63966A>G) c.356A>G c.*361A>G (n.*361A>G) c.511A>G (p.Asn171Asp) n.259+2450T>C c.532A>G (p.Asn178Asp) c.421A>G (p.Asn141Asp) c.505-63966A>G (n.505-63966A>G) | |
| 10 | g.74525316A>T | CA377397943 | ADK | c.616A>T (p.Asn206Tyr) c.565A>T (p.Asn189Tyr) c.340A>T (p.Asn114Tyr) c.556-63966A>T (n.556-63966A>T) c.356A>T c.*361A>T (n.*361A>T) c.511A>T (p.Asn171Tyr) n.259+2450T>A c.532A>T (p.Asn178Tyr) c.421A>T (p.Asn141Tyr) c.505-63966A>T (n.505-63966A>T) | |
| 10 | g.74525317A>C | CA377397946 | ADK | c.617A>C (p.Asn206Thr) c.566A>C (p.Asn189Thr) c.341A>C (p.Asn114Thr) c.556-63965A>C (n.556-63965A>C) c.357A>C c.*362A>C (n.*362A>C) c.512A>C (p.Asn171Thr) n.259+2449T>G c.533A>C (p.Asn178Thr) c.422A>C (p.Asn141Thr) c.505-63965A>C (n.505-63965A>C) | |
| 10 | g.74525317A>G | CA377397945 | ADK | c.617A>G (p.Asn206Ser) c.566A>G (p.Asn189Ser) c.341A>G (p.Asn114Ser) c.556-63965A>G (n.556-63965A>G) c.357A>G c.*362A>G (n.*362A>G) c.512A>G (p.Asn171Ser) n.259+2449T>C c.533A>G (p.Asn178Ser) c.422A>G (p.Asn141Ser) c.505-63965A>G (n.505-63965A>G) | |
| 10 | g.74525317A>T | CA377397944 | ADK | c.617A>T (p.Asn206Ile) c.566A>T (p.Asn189Ile) c.341A>T (p.Asn114Ile) c.556-63965A>T (n.556-63965A>T) c.357A>T c.*362A>T (n.*362A>T) c.512A>T (p.Asn171Ile) n.259+2449T>A c.533A>T (p.Asn178Ile) c.422A>T (p.Asn141Ile) c.505-63965A>T (n.505-63965A>T) | |
| 10 | g.74525318C>A | CA377397947 | ADK | c.618C>A (p.Asn206Lys) c.567C>A (p.Asn189Lys) c.342C>A (p.Asn114Lys) c.556-63964C>A (n.556-63964C>A) c.358C>A c.*363C>A (n.*363C>A) c.513C>A (p.Asn171Lys) n.259+2448G>T c.534C>A (p.Asn178Lys) c.423C>A (p.Asn141Lys) c.505-63964C>A (n.505-63964C>A) | |
| 10 | g.74525318C>G | CA377397948 | ADK | c.618C>G (p.Asn206Lys) c.567C>G (p.Asn189Lys) c.342C>G (p.Asn114Lys) c.556-63964C>G (n.556-63964C>G) c.358C>G c.*363C>G (n.*363C>G) c.513C>G (p.Asn171Lys) n.259+2448G>C c.534C>G (p.Asn178Lys) c.423C>G (p.Asn141Lys) c.505-63964C>G (n.505-63964C>G) | |
| 10 | g.74525318C>T | CA470254809 | ADK | c.618C>T (p.Asn206=) c.567C>T (p.Asn189=) c.342C>T (p.Asn114=) c.556-63964C>T (n.556-63964C>T) c.358C>T c.*363C>T (n.*363C>T) c.513C>T (p.Asn171=) n.259+2448G>A c.534C>T (p.Asn178=) c.423C>T (p.Asn141=) c.505-63964C>T (n.505-63964C>T) | gnomAD v4 |
| 10 | g.74525319A>C | CA377397949 | ADK | c.619A>C (p.Asn207His) c.568A>C (p.Asn190His) c.343A>C (p.Asn115His) c.556-63963A>C (n.556-63963A>C) c.359A>C c.*364A>C (n.*364A>C) c.514A>C (p.Asn172His) n.259+2447T>G c.535A>C (p.Asn179His) c.424A>C (p.Asn142His) c.505-63963A>C (n.505-63963A>C) | |
| 10 | g.74525319A>G | CA377397950 | ADK | c.619A>G (p.Asn207Asp) c.568A>G (p.Asn190Asp) c.343A>G (p.Asn115Asp) c.556-63963A>G (n.556-63963A>G) c.359A>G c.*364A>G (n.*364A>G) c.514A>G (p.Asn172Asp) n.259+2447T>C c.535A>G (p.Asn179Asp) c.424A>G (p.Asn142Asp) c.505-63963A>G (n.505-63963A>G) | |
| 10 | g.74525319A>T | CA377397951 | ADK | c.619A>T (p.Asn207Tyr) c.568A>T (p.Asn190Tyr) c.343A>T (p.Asn115Tyr) c.556-63963A>T (n.556-63963A>T) c.359A>T c.*364A>T (n.*364A>T) c.514A>T (p.Asn172Tyr) n.259+2447T>A c.535A>T (p.Asn179Tyr) c.424A>T (p.Asn142Tyr) c.505-63963A>T (n.505-63963A>T) | |
| 10 | g.74525320A>C | CA377397952 | ADK | c.620A>C (p.Asn207Thr) c.569A>C (p.Asn190Thr) c.344A>C (p.Asn115Thr) c.556-63962A>C (n.556-63962A>C) c.360A>C c.*365A>C (n.*365A>C) c.515A>C (p.Asn172Thr) n.259+2446T>G c.536A>C (p.Asn179Thr) c.425A>C (p.Asn142Thr) c.505-63962A>C (n.505-63962A>C) | ClinVar dbSNP |
| 10 | g.74525320A>G | CA377397953 | ADK | c.620A>G (p.Asn207Ser) c.569A>G (p.Asn190Ser) c.344A>G (p.Asn115Ser) c.556-63962A>G (n.556-63962A>G) c.360A>G c.*365A>G (n.*365A>G) c.515A>G (p.Asn172Ser) n.259+2446T>C c.536A>G (p.Asn179Ser) c.425A>G (p.Asn142Ser) c.505-63962A>G (n.505-63962A>G) | |
| 10 | g.74525320A>T | CA377397954 | ADK | c.620A>T (p.Asn207Ile) c.569A>T (p.Asn190Ile) c.344A>T (p.Asn115Ile) c.556-63962A>T (n.556-63962A>T) c.360A>T c.*365A>T (n.*365A>T) c.515A>T (p.Asn172Ile) n.259+2446T>A c.536A>T (p.Asn179Ile) c.425A>T (p.Asn142Ile) c.505-63962A>T (n.505-63962A>T) | |
| 10 | g.74525321C>A | CA377397955 | ADK | c.621C>A (p.Asn207Lys) c.570C>A (p.Asn190Lys) c.345C>A (p.Asn115Lys) c.556-63961C>A (n.556-63961C>A) c.361C>A c.*366C>A (n.*366C>A) c.516C>A (p.Asn172Lys) n.259+2445G>T c.537C>A (p.Asn179Lys) c.426C>A (p.Asn142Lys) c.505-63961C>A (n.505-63961C>A) | |
| 10 | g.74525321C>G | CA377397956 | ADK | c.621C>G (p.Asn207Lys) c.570C>G (p.Asn190Lys) c.345C>G (p.Asn115Lys) c.556-63961C>G (n.556-63961C>G) c.361C>G c.*366C>G (n.*366C>G) c.516C>G (p.Asn172Lys) n.259+2445G>C c.537C>G (p.Asn179Lys) c.426C>G (p.Asn142Lys) c.505-63961C>G (n.505-63961C>G) | |
| 10 | g.74525321C>T | CA470254810 | ADK | c.621C>T (p.Asn207=) c.570C>T (p.Asn190=) c.345C>T (p.Asn115=) c.556-63961C>T (n.556-63961C>T) c.361C>T c.*366C>T (n.*366C>T) c.516C>T (p.Asn172=) n.259+2445G>A c.537C>T (p.Asn179=) c.426C>T (p.Asn142=) c.505-63961C>T (n.505-63961C>T) | gnomAD v4 |