Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.123284573_123284574delinsAG | CA1398327415 | ADCY5 | c.*34_*35delinsCT (n.*34_*35delinsCT) n.2223_2224delinsCT c.3895_3896delinsCT (n.3895_3896delinsCT) n.590_591delinsCT c.3820_3821delinsCT (n.3820_3821delinsCT) | |
3 | g.123284574G>C | CA2576673 | ADCY5 | c.*34C>G (n.*34C>G) n.2223C>G c.3895C>G (n.3895C>G) n.590C>G c.3820C>G (n.3820C>G) | dbSNP ExAC gnomAD v2 |
3 | g.123284574G= | CA1398327416 | ADCY5 | c.*34C= (n.*34C=) n.2223C= c.3895C= (n.3895C=) n.590C= c.3820C= (n.3820C=) | |
3 | g.123284574G>T | CA545690131 | ADCY5 | c.*34C>A (n.*34C>A) n.2223C>A c.3895C>A (n.3895C>A) n.590C>A c.3820C>A (n.3820C>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.123284575del | CA2576672 | ADCY5 | c.*34del (n.*34del) n.2223del c.3895del (n.3895del) n.590del c.3820del (n.3820del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123284575G>C | CA2576674 | ADCY5 | c.*33C>G (n.*33C>G) n.2222C>G c.3894C>G (n.3894C>G) n.589C>G c.3819C>G (n.3819C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123284575G= | CA1398327417 | ADCY5 | c.*33C= (n.*33C=) n.2222C= c.3894C= (n.3894C=) n.589C= c.3819C= (n.3819C=) | |
3 | g.123284575G>T | CA2667291808 | ADCY5 | c.*33C>A (n.*33C>A) n.2222C>A c.3894C>A (n.3894C>A) n.589C>A c.3819C>A (n.3819C>A) | gnomAD v4 |
3 | g.123284577C>T | CA2667291812 | ADCY5 | c.*31G>A (n.*31G>A) n.2220G>A c.3892G>A (n.3892G>A) n.587G>A c.3817G>A (n.3817G>A) | gnomAD v4 |
3 | g.123284579G>A | CA1398327418 | ADCY5 | c.*29C>T (n.*29C>T) n.2218C>T c.3890C>T (n.3890C>T) n.585C>T c.3815C>T (n.3815C>T) | dbSNP gnomAD v4 |
3 | g.123284579G= | CA1398327419 | ADCY5 | c.*29C= (n.*29C=) n.2218C= c.3890C= (n.3890C=) n.585C= c.3815C= (n.3815C=) | |
3 | g.123284580G>A | CA2576675 | ADCY5 | c.*28C>T (n.*28C>T) n.2217C>T c.3889C>T (n.3889C>T) n.584C>T c.3814C>T (n.3814C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123284580G= | CA1398327420 | ADCY5 | c.*28C= (n.*28C=) n.2217C= c.3889C= (n.3889C=) n.584C= c.3814C= (n.3814C=) | |
3 | g.123284582_123284584del | CA2667291814 | ADCY5 | c.*26_*28del (n.*26_*28del) n.2215_2217del c.3887_3889del (n.3887_3889del) n.582_584del c.3812_3814del (n.3812_3814del) | gnomAD v4 |
3 | g.123284582T>A | CA2577874717 | ADCY5 | c.*26A>T (n.*26A>T) n.2215A>T c.3887A>T (n.3887A>T) n.582A>T c.3812A>T (n.3812A>T) | |
3 | g.123284582T>C | CA545690141 | ADCY5 | c.*26A>G (n.*26A>G) n.2215A>G c.3887A>G (n.3887A>G) n.582A>G c.3812A>G (n.3812A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.123284582T>G | CA545690144 | ADCY5 | c.*26A>C (n.*26A>C) n.2215A>C c.3887A>C (n.3887A>C) n.582A>C c.3812A>C (n.3812A>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.123284582T= | CA1398327421 | ADCY5 | c.*26A= (n.*26A=) n.2215A= c.3887A= (n.3887A=) n.582A= c.3812A= (n.3812A=) | |
3 | g.123284583G>A | CA545690146 | ADCY5 | c.*25C>T (n.*25C>T) n.2214C>T c.3886C>T (n.3886C>T) n.581C>T c.3811C>T (n.3811C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123284583G= | CA1398327422 | ADCY5 | c.*25C= (n.*25C=) n.2214C= c.3886C= (n.3886C=) n.581C= c.3811C= (n.3811C=) | |
3 | g.123284583G>T | CA2667291824 | ADCY5 | c.*25C>A (n.*25C>A) n.2214C>A c.3886C>A (n.3886C>A) n.581C>A c.3811C>A (n.3811C>A) | gnomAD v4 |
3 | g.123284585C>A | CA82899597 | ADCY5 | c.*23G>T (n.*23G>T) n.2212G>T c.3884G>T (n.3884G>T) n.579G>T c.3809G>T (n.3809G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123284585C= | CA1398327423 | ADCY5 | c.*23G= (n.*23G=) n.2212G= c.3884G= (n.3884G=) n.579G= c.3809G= (n.3809G=) | |
3 | g.123284585C>G | CA2576676 | ADCY5 | c.*23G>C (n.*23G>C) n.2212G>C c.3884G>C (n.3884G>C) n.579G>C c.3809G>C (n.3809G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123284585C>T | CA2667291829 | ADCY5 | c.*23G>A (n.*23G>A) n.2212G>A c.3884G>A (n.3884G>A) n.579G>A c.3809G>A (n.3809G>A) | gnomAD v4 |
3 | g.123284586T>C | CA2667291835 | ADCY5 | c.*22A>G (n.*22A>G) n.2211A>G c.3883A>G (n.3883A>G) n.578A>G c.3808A>G (n.3808A>G) | gnomAD v4 |
3 | g.123284586T>G | CA2576677 | ADCY5 | c.*22A>C (n.*22A>C) n.2211A>C c.3883A>C (n.3883A>C) n.578A>C c.3808A>C (n.3808A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123284586T= | CA1398327424 | ADCY5 | c.*22A= (n.*22A=) n.2211A= c.3883A= (n.3883A=) n.578A= c.3808A= (n.3808A=) | |
3 | g.123284587G>A | CA2576678 | ADCY5 | c.*21C>T (n.*21C>T) n.2210C>T c.3882C>T (n.3882C>T) n.577C>T c.3807C>T (n.3807C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123284587G= | CA1398327425 | ADCY5 | c.*21C= (n.*21C=) n.2210C= c.3882C= (n.3882C=) n.577C= c.3807C= (n.3807C=) | |
3 | g.123284588G>A | CA2576679 | ADCY5 | c.*20C>T (n.*20C>T) n.2209C>T c.3881C>T (n.3881C>T) n.576C>T c.3806C>T (n.3806C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123284588G= | CA1398327426 | ADCY5 | c.*20C= (n.*20C=) n.2209C= c.3881C= (n.3881C=) n.576C= c.3806C= (n.3806C=) | |
3 | g.123284589C= | CA1398327427 | ADCY5 | c.*19G= (n.*19G=) n.2208G= c.3880G= (n.3880G=) n.575G= c.3805G= (n.3805G=) | |
3 | g.123284589C>T | CA898155289 | ADCY5 | c.*19G>A (n.*19G>A) n.2208G>A c.3880G>A (n.3880G>A) n.575G>A c.3805G>A (n.3805G>A) | dbSNP gnomAD v4 |
3 | g.123284590A>G | CA2577874718 | ADCY5 | c.*18T>C (n.*18T>C) n.2207T>C c.3879T>C (n.3879T>C) n.574T>C c.3804T>C (n.3804T>C) | gnomAD v4 |
3 | g.123284591C= | CA1398327428 | ADCY5 | c.*17G= (n.*17G=) n.2206G= c.3878G= (n.3878G=) n.573G= c.3803G= (n.3803G=) | |
3 | g.123284591C>T | CA2576680 | ADCY5 | c.*17G>A (n.*17G>A) n.2206G>A c.3878G>A (n.3878G>A) n.573G>A c.3803G>A (n.3803G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123284593A= | CA1398327429 | ADCY5 | c.*15T= (n.*15T=) n.2204T= c.3876T= (n.3876T=) n.571T= c.3801T= (n.3801T=) | |
3 | g.123284593A>G | CA545690159 | ADCY5 | c.*15T>C (n.*15T>C) n.2204T>C c.3876T>C (n.3876T>C) n.571T>C c.3801T>C (n.3801T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.123284594T>C | CA545690160 | ADCY5 | c.*14A>G (n.*14A>G) n.2203A>G c.3875A>G (n.3875A>G) n.570A>G c.3800A>G (n.3800A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123284594T= | CA1398327430 | ADCY5 | c.*14A= (n.*14A=) n.2203A= c.3875A= (n.3875A=) n.570A= c.3800A= (n.3800A=) | |
3 | g.123284596G>A | CA898155294 | ADCY5 | c.*12C>T (n.*12C>T) n.2201C>T c.3873C>T (n.3873C>T) n.568C>T c.3798C>T (n.3798C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.123284596G= | CA1398327431 | ADCY5 | c.*12C= (n.*12C=) n.2201C= c.3873C= (n.3873C=) n.568C= c.3798C= (n.3798C=) | |
3 | g.123284596G>T | CA2564115202 | ADCY5 | c.*12C>A (n.*12C>A) n.2201C>A c.3873C>A (n.3873C>A) n.568C>A c.3798C>A (n.3798C>A) | dbSNP gnomAD v4 |
3 | g.123284597G>A | CA2576681 | ADCY5 | c.*11C>T (n.*11C>T) n.2200C>T c.3872C>T (n.3872C>T) n.567C>T c.3797C>T (n.3797C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123284597G= | CA1398327432 | ADCY5 | c.*11C= (n.*11C=) n.2200C= c.3872C= (n.3872C=) n.567C= c.3797C= (n.3797C=) | |
3 | g.123284598C= | CA1398327433 | ADCY5 | c.*10G= (n.*10G=) n.2199G= c.3871G= (n.3871G=) n.566G= c.3796G= (n.3796G=) | |
3 | g.123284598C>T | CA82899634 | ADCY5 | c.*10G>A (n.*10G>A) n.2199G>A c.3871G>A (n.3871G>A) n.566G>A c.3796G>A (n.3796G>A) | dbSNP gnomAD v3 |
3 | g.123284600A= | CA1398327434 | ADCY5 | c.*8T= (n.*8T=) n.2197T= c.3869T= (n.3869T=) n.564T= c.3794T= (n.3794T=) | |
3 | g.123284600A>T | CA1398327435 | ADCY5 | c.*8T>A (n.*8T>A) n.2197T>A c.3869T>A (n.3869T>A) n.564T>A c.3794T>A (n.3794T>A) | dbSNP |
3 | g.123284601A= | CA1398327436 | ADCY5 | c.*7T= (n.*7T=) n.2196T= c.3868T= (n.3868T=) n.563T= c.3793T= (n.3793T=) | |
3 | g.123284601A>G | CA2667291880 | ADCY5 | c.*7T>C (n.*7T>C) n.2196T>C c.3868T>C (n.3868T>C) n.563T>C c.3793T>C (n.3793T>C) | gnomAD v4 |
3 | g.123284601A>T | CA82899665 | ADCY5 | c.*7T>A (n.*7T>A) n.2196T>A c.3868T>A (n.3868T>A) n.563T>A c.3793T>A (n.3793T>A) | dbSNP |
3 | g.123284602C>A | CA2667291885 | ADCY5 | c.*6G>T (n.*6G>T) n.2195G>T c.3867G>T (n.3867G>T) n.562G>T c.3792G>T (n.3792G>T) | gnomAD v4 |
3 | g.123284602C>T | CA2667291888 | ADCY5 | c.*6G>A (n.*6G>A) n.2195G>A c.3867G>A (n.3867G>A) n.562G>A c.3792G>A (n.3792G>A) | dbSNP gnomAD v4 |
3 | g.123284602_123284603delinsCA | CA1398327437 | ADCY5 | c.*5_*6delinsTG (n.*5_*6delinsTG) n.2194_2195delinsTG c.3866_3867delinsTG (n.3866_3867delinsTG) n.561_562delinsTG c.3791_3792delinsTG (n.3791_3792delinsTG) | |
3 | g.123284603del | CA545690167 | ADCY5 | c.*5del (n.*5del) n.2194del c.3866del (n.3866del) n.561del c.3791del (n.3791del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123284604G>A | CA82899678 | ADCY5 | c.*4C>T (n.*4C>T) n.2193C>T c.3865C>T (n.3865C>T) n.560C>T c.3790C>T (n.3790C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.123284604G= | CA1398327438 | ADCY5 | c.*4C= (n.*4C=) n.2193C= c.3865C= (n.3865C=) n.560C= c.3790C= (n.3790C=) | |
3 | g.123284608_123284614del | CA2740094581 | ADCY5 | c.2460_*3del (n.[c.2460_*3del;Ter821CysextTer?]) c.2748_*3del (n.[c.2748_*3del;Ter917CysextTer?]) n.2186_2192del c.3858_3864del (n.[c.3858_3864del;Ter1287CysextTer?]) c.3783_*3del (n.[c.3783_*3del;Ter1262CysextTer?]) c.2733_*3del (n.[c.2733_*3del;Ter912CysextTer?]) n.553_559del c.2757_*3del (n.[c.2757_*3del;Ter920CysextTer?]) c.3783_3789del (n.[c.3783_3789del;Ter1262CysextTer?]) c.3858_*3del (n.[c.3858_*3del;Ter1287CysextTer?]) c.2808_*3del (n.[c.2808_*3del;Ter937CysextTer?]) c.2535_*3del (n.[c.2535_*3del;Ter846CysextTer?]) c.2859_*3del (n.[c.2859_*3del;Ter954CysextTer?]) c.2769_*3del (n.[c.2769_*3del;Ter924CysextTer?]) c.2760_*3del (n.[c.2760_*3del;Ter921CysextTer?]) | ClinVar |
3 | g.123284608C>A | CA354221695 | ADCY5 | c.2463G>T (p.Ter821Tyr) c.2751G>T (p.Ter917Tyr) n.2189G>T c.3861G>T (p.Ter1287Tyr) c.3786G>T (p.Ter1262Tyr) c.2736G>T (p.Ter912Tyr) n.556G>T c.2760G>T (p.Ter920Tyr) c.2811G>T (p.Ter937Tyr) c.2538G>T (p.Ter846Tyr) c.2862G>T (p.Ter954Tyr) c.2772G>T (p.Ter924Tyr) c.2763G>T (p.Ter921Tyr) | |
3 | g.123284608C>G | CA354221697 | ADCY5 | c.2463G>C (p.Ter821Tyr) c.2751G>C (p.Ter917Tyr) n.2189G>C c.3861G>C (p.Ter1287Tyr) c.3786G>C (p.Ter1262Tyr) c.2736G>C (p.Ter912Tyr) n.556G>C c.2760G>C (p.Ter920Tyr) c.2811G>C (p.Ter937Tyr) c.2538G>C (p.Ter846Tyr) c.2862G>C (p.Ter954Tyr) c.2772G>C (p.Ter924Tyr) c.2763G>C (p.Ter921Tyr) | |
3 | g.123284608C>T | CA435297645 | ADCY5 | c.2463G>A (p.Ter821=) c.2751G>A (p.Ter917=) n.2189G>A c.3861G>A (p.Ter1287=) c.3786G>A (p.Ter1262=) c.2736G>A (p.Ter912=) n.556G>A c.2760G>A (p.Ter920=) c.2811G>A (p.Ter937=) c.2538G>A (p.Ter846=) c.2862G>A (p.Ter954=) c.2772G>A (p.Ter924=) c.2763G>A (p.Ter921=) | |
3 | g.123284610_123284613del | CA2573136408 | ADCY5 | c.2460_2463del (p.Ter821SerextTer?) c.2748_2751del (p.Ter917SerextTer?) n.2186_2189del c.3858_3861del (p.Ter1287SerextTer?) c.3783_3786del (p.Ter1262SerextTer?) c.2733_2736del (p.Ter912SerextTer?) n.553_556del c.2757_2760del (p.Ter920SerextTer?) c.2808_2811del (p.Ter937SerextTer?) c.2535_2538del (p.Ter846SerextTer?) c.2859_2862del (p.Ter954SerextTer?) c.2769_2772del (p.Ter924SerextTer?) c.2760_2763del (p.Ter921SerextTer?) | ClinVar dbSNP |
3 | g.123284609T>A | CA354221700 | ADCY5 | c.2462A>T (p.Ter821Leu) c.2750A>T (p.Ter917Leu) n.2188A>T c.3860A>T (p.Ter1287Leu) c.3785A>T (p.Ter1262Leu) c.2735A>T (p.Ter912Leu) n.555A>T c.2759A>T (p.Ter920Leu) c.2810A>T (p.Ter937Leu) c.2537A>T (p.Ter846Leu) c.2861A>T (p.Ter954Leu) c.2771A>T (p.Ter924Leu) c.2762A>T (p.Ter921Leu) | |
3 | g.123284609T>C | CA354221702 | ADCY5 | c.2462A>G (p.Ter821Trp) c.2750A>G (p.Ter917Trp) n.2188A>G c.3860A>G (p.Ter1287Trp) c.3785A>G (p.Ter1262Trp) c.2735A>G (p.Ter912Trp) n.555A>G c.2759A>G (p.Ter920Trp) c.2810A>G (p.Ter937Trp) c.2537A>G (p.Ter846Trp) c.2861A>G (p.Ter954Trp) c.2771A>G (p.Ter924Trp) c.2762A>G (p.Ter921Trp) | |
3 | g.123284609T>G | CA354221704 | ADCY5 | c.2462A>C (p.Ter821Ser) c.2750A>C (p.Ter917Ser) n.2188A>C c.3860A>C (p.Ter1287Ser) c.3785A>C (p.Ter1262Ser) c.2735A>C (p.Ter912Ser) n.555A>C c.2759A>C (p.Ter920Ser) c.2810A>C (p.Ter937Ser) c.2537A>C (p.Ter846Ser) c.2861A>C (p.Ter954Ser) c.2771A>C (p.Ter924Ser) c.2762A>C (p.Ter921Ser) | |
3 | g.123284610A>C | CA354221707 | ADCY5 | c.2461T>G (p.Ter821Glu) c.2749T>G (p.Ter917Glu) n.2187T>G c.3859T>G (p.Ter1287Glu) c.3784T>G (p.Ter1262Glu) c.2734T>G (p.Ter912Glu) n.554T>G c.2758T>G (p.Ter920Glu) c.2809T>G (p.Ter937Glu) c.2536T>G (p.Ter846Glu) c.2860T>G (p.Ter954Glu) c.2770T>G (p.Ter924Glu) c.2761T>G (p.Ter921Glu) | |
3 | g.123284610A>G | CA354221709 | ADCY5 | c.2461T>C (p.Ter821Gln) c.2749T>C (p.Ter917Gln) n.2187T>C c.3859T>C (p.Ter1287Gln) c.3784T>C (p.Ter1262Gln) c.2734T>C (p.Ter912Gln) n.554T>C c.2758T>C (p.Ter920Gln) c.2809T>C (p.Ter937Gln) c.2536T>C (p.Ter846Gln) c.2860T>C (p.Ter954Gln) c.2770T>C (p.Ter924Gln) c.2761T>C (p.Ter921Gln) | |
3 | g.123284610A>T | CA354221711 | ADCY5 | c.2461T>A (p.Ter821Lys) c.2749T>A (p.Ter917Lys) n.2187T>A c.3859T>A (p.Ter1287Lys) c.3784T>A (p.Ter1262Lys) c.2734T>A (p.Ter912Lys) n.554T>A c.2758T>A (p.Ter920Lys) c.2809T>A (p.Ter937Lys) c.2536T>A (p.Ter846Lys) c.2860T>A (p.Ter954Lys) c.2770T>A (p.Ter924Lys) c.2761T>A (p.Ter921Lys) | |
3 | g.123284611A>C | CA354221715 | ADCY5 | c.2460T>G (p.Ser820Arg) c.2748T>G (p.Ser916Arg) n.2186T>G c.3858T>G (p.Ser1286Arg) c.3783T>G (p.Ser1261Arg) c.2733T>G (p.Ser911Arg) n.553T>G c.2757T>G (p.Ser919Arg) c.2808T>G (p.Ser936Arg) c.2535T>G (p.Ser845Arg) c.2859T>G (p.Ser953Arg) c.2769T>G (p.Ser923Arg) c.2760T>G (p.Ser920Arg) | |
3 | g.123284611A>G | CA435297646 | ADCY5 | c.2460T>C (p.Ser820=) c.2748T>C (p.Ser916=) n.2186T>C c.3858T>C (p.Ser1286=) c.3783T>C (p.Ser1261=) c.2733T>C (p.Ser911=) n.553T>C c.2757T>C (p.Ser919=) c.2808T>C (p.Ser936=) c.2535T>C (p.Ser845=) c.2859T>C (p.Ser953=) c.2769T>C (p.Ser923=) c.2760T>C (p.Ser920=) | |
3 | g.123284611A>T | CA354221714 | ADCY5 | c.2460T>A (p.Ser820Arg) c.2748T>A (p.Ser916Arg) n.2186T>A c.3858T>A (p.Ser1286Arg) c.3783T>A (p.Ser1261Arg) c.2733T>A (p.Ser911Arg) n.553T>A c.2757T>A (p.Ser919Arg) c.2808T>A (p.Ser936Arg) c.2535T>A (p.Ser845Arg) c.2859T>A (p.Ser953Arg) c.2769T>A (p.Ser923Arg) c.2760T>A (p.Ser920Arg) | |
3 | g.123284612C>A | CA354221717 | ADCY5 | c.2459G>T (p.Ser820Ile) c.2747G>T (p.Ser916Ile) n.2185G>T c.3857G>T (p.Ser1286Ile) c.3782G>T (p.Ser1261Ile) c.2732G>T (p.Ser911Ile) n.552G>T c.2756G>T (p.Ser919Ile) c.2807G>T (p.Ser936Ile) c.2534G>T (p.Ser845Ile) c.2858G>T (p.Ser953Ile) c.2768G>T (p.Ser923Ile) c.2759G>T (p.Ser920Ile) | |
3 | g.123284612C>G | CA354221719 | ADCY5 | c.2459G>C (p.Ser820Thr) c.2747G>C (p.Ser916Thr) n.2185G>C c.3857G>C (p.Ser1286Thr) c.3782G>C (p.Ser1261Thr) c.2732G>C (p.Ser911Thr) n.552G>C c.2756G>C (p.Ser919Thr) c.2807G>C (p.Ser936Thr) c.2534G>C (p.Ser845Thr) c.2858G>C (p.Ser953Thr) c.2768G>C (p.Ser923Thr) c.2759G>C (p.Ser920Thr) | |
3 | g.123284612C>T | CA354221722 | ADCY5 | c.2459G>A (p.Ser820Asn) c.2747G>A (p.Ser916Asn) n.2185G>A c.3857G>A (p.Ser1286Asn) c.3782G>A (p.Ser1261Asn) c.2732G>A (p.Ser911Asn) n.552G>A c.2756G>A (p.Ser919Asn) c.2807G>A (p.Ser936Asn) c.2534G>A (p.Ser845Asn) c.2858G>A (p.Ser953Asn) c.2768G>A (p.Ser923Asn) c.2759G>A (p.Ser920Asn) | |
3 | g.123284613T>A | CA2576682 | ADCY5 | c.2458A>T (p.Ser820Cys) c.2746A>T (p.Ser916Cys) n.2184A>T c.3856A>T (p.Ser1286Cys) c.3781A>T (p.Ser1261Cys) c.2731A>T (p.Ser911Cys) n.551A>T c.2755A>T (p.Ser919Cys) c.2806A>T (p.Ser936Cys) c.2533A>T (p.Ser845Cys) c.2857A>T (p.Ser953Cys) c.2767A>T (p.Ser923Cys) c.2758A>T (p.Ser920Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123284613T>C | CA354221725 | ADCY5 | c.2458A>G (p.Ser820Gly) c.2746A>G (p.Ser916Gly) n.2184A>G c.3856A>G (p.Ser1286Gly) c.3781A>G (p.Ser1261Gly) c.2731A>G (p.Ser911Gly) n.551A>G c.2755A>G (p.Ser919Gly) c.2806A>G (p.Ser936Gly) c.2533A>G (p.Ser845Gly) c.2857A>G (p.Ser953Gly) c.2767A>G (p.Ser923Gly) c.2758A>G (p.Ser920Gly) | |
3 | g.123284613T>G | CA354221726 | ADCY5 | c.2458A>C (p.Ser820Arg) c.2746A>C (p.Ser916Arg) n.2184A>C c.3856A>C (p.Ser1286Arg) c.3781A>C (p.Ser1261Arg) c.2731A>C (p.Ser911Arg) n.551A>C c.2755A>C (p.Ser919Arg) c.2806A>C (p.Ser936Arg) c.2533A>C (p.Ser845Arg) c.2857A>C (p.Ser953Arg) c.2767A>C (p.Ser923Arg) c.2758A>C (p.Ser920Arg) | |
3 | g.123284613T= | CA1398327439 | ADCY5 | c.2458A= (p.Ser820=) c.2746A= (p.Ser916=) n.2184A= c.3856A= (p.Ser1286=) c.3781A= (p.Ser1261=) c.2731A= (p.Ser911=) n.551A= c.2755A= (p.Ser919=) c.2806A= (p.Ser936=) c.2533A= (p.Ser845=) c.2857A= (p.Ser953=) c.2767A= (p.Ser923=) c.2758A= (p.Ser920=) | |
3 | g.123284614G>A | CA435297647 | ADCY5 | c.2457C>T (p.Leu819=) c.2745C>T (p.Leu915=) n.2183C>T c.3855C>T (p.Leu1285=) c.3780C>T (p.Leu1260=) c.2730C>T (p.Leu910=) n.550C>T c.2754C>T (p.Leu918=) c.2805C>T (p.Leu935=) c.2532C>T (p.Leu844=) c.2856C>T (p.Leu952=) c.2766C>T (p.Leu922=) c.2757C>T (p.Leu919=) | gnomAD v4 |
3 | g.123284614G>C | CA435297648 | ADCY5 | c.2457C>G (p.Leu819=) c.2745C>G (p.Leu915=) n.2183C>G c.3855C>G (p.Leu1285=) c.3780C>G (p.Leu1260=) c.2730C>G (p.Leu910=) n.550C>G c.2754C>G (p.Leu918=) c.2805C>G (p.Leu935=) c.2532C>G (p.Leu844=) c.2856C>G (p.Leu952=) c.2766C>G (p.Leu922=) c.2757C>G (p.Leu919=) | dbSNP |
3 | g.123284614G= | CA1398327440 | ADCY5 | c.2457C= (p.Leu819=) c.2745C= (p.Leu915=) n.2183C= c.3855C= (p.Leu1285=) c.3780C= (p.Leu1260=) c.2730C= (p.Leu910=) n.550C= c.2754C= (p.Leu918=) c.2805C= (p.Leu935=) c.2532C= (p.Leu844=) c.2856C= (p.Leu952=) c.2766C= (p.Leu922=) c.2757C= (p.Leu919=) | |
3 | g.123284614G>T | CA435297649 | ADCY5 | c.2457C>A (p.Leu819=) c.2745C>A (p.Leu915=) n.2183C>A c.3855C>A (p.Leu1285=) c.3780C>A (p.Leu1260=) c.2730C>A (p.Leu910=) n.550C>A c.2754C>A (p.Leu918=) c.2805C>A (p.Leu935=) c.2532C>A (p.Leu844=) c.2856C>A (p.Leu952=) c.2766C>A (p.Leu922=) c.2757C>A (p.Leu919=) | |
3 | g.123284615A= | CA1398327441 | ADCY5 | c.2456T= (p.Leu819=) c.2744T= (p.Leu915=) n.2182T= c.3854T= (p.Leu1285=) c.3779T= (p.Leu1260=) c.2729T= (p.Leu910=) n.549T= c.2753T= (p.Leu918=) c.2804T= (p.Leu935=) c.2531T= (p.Leu844=) c.2855T= (p.Leu952=) c.2765T= (p.Leu922=) c.2756T= (p.Leu919=) | |
3 | g.123284615A>C | CA354221729 | ADCY5 | c.2456T>G (p.Leu819Arg) c.2744T>G (p.Leu915Arg) n.2182T>G c.3854T>G (p.Leu1285Arg) c.3779T>G (p.Leu1260Arg) c.2729T>G (p.Leu910Arg) n.549T>G c.2753T>G (p.Leu918Arg) c.2804T>G (p.Leu935Arg) c.2531T>G (p.Leu844Arg) c.2855T>G (p.Leu952Arg) c.2765T>G (p.Leu922Arg) c.2756T>G (p.Leu919Arg) | |
3 | g.123284615A>G | CA354221731 | ADCY5 | c.2456T>C (p.Leu819Pro) c.2744T>C (p.Leu915Pro) n.2182T>C c.3854T>C (p.Leu1285Pro) c.3779T>C (p.Leu1260Pro) c.2729T>C (p.Leu910Pro) n.549T>C c.2753T>C (p.Leu918Pro) c.2804T>C (p.Leu935Pro) c.2531T>C (p.Leu844Pro) c.2855T>C (p.Leu952Pro) c.2765T>C (p.Leu922Pro) c.2756T>C (p.Leu919Pro) | gnomAD v4 |
3 | g.123284615A>T | CA354221732 | ADCY5 | c.2456T>A (p.Leu819His) c.2744T>A (p.Leu915His) n.2182T>A c.3854T>A (p.Leu1285His) c.3779T>A (p.Leu1260His) c.2729T>A (p.Leu910His) n.549T>A c.2753T>A (p.Leu918His) c.2804T>A (p.Leu935His) c.2531T>A (p.Leu844His) c.2855T>A (p.Leu952His) c.2765T>A (p.Leu922His) c.2756T>A (p.Leu919His) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.123284616G>A | CA354221736 | ADCY5 | c.2455C>T (p.Leu819Phe) c.2743C>T (p.Leu915Phe) n.2181C>T c.3853C>T (p.Leu1285Phe) c.3778C>T (p.Leu1260Phe) c.2728C>T (p.Leu910Phe) n.548C>T c.2752C>T (p.Leu918Phe) c.2803C>T (p.Leu935Phe) c.2530C>T (p.Leu844Phe) c.2854C>T (p.Leu952Phe) c.2764C>T (p.Leu922Phe) c.2755C>T (p.Leu919Phe) | |
3 | g.123284616G>C | CA354221738 | ADCY5 | c.2455C>G (p.Leu819Val) c.2743C>G (p.Leu915Val) n.2181C>G c.3853C>G (p.Leu1285Val) c.3778C>G (p.Leu1260Val) c.2728C>G (p.Leu910Val) n.548C>G c.2752C>G (p.Leu918Val) c.2803C>G (p.Leu935Val) c.2530C>G (p.Leu844Val) c.2854C>G (p.Leu952Val) c.2764C>G (p.Leu922Val) c.2755C>G (p.Leu919Val) | |
3 | g.123284616G>T | CA354221739 | ADCY5 | c.2455C>A (p.Leu819Ile) c.2743C>A (p.Leu915Ile) n.2181C>A c.3853C>A (p.Leu1285Ile) c.3778C>A (p.Leu1260Ile) c.2728C>A (p.Leu910Ile) n.548C>A c.2752C>A (p.Leu918Ile) c.2803C>A (p.Leu935Ile) c.2530C>A (p.Leu844Ile) c.2854C>A (p.Leu952Ile) c.2764C>A (p.Leu922Ile) c.2755C>A (p.Leu919Ile) | |
3 | g.123284617C>A | CA435297650 | ADCY5 | c.2454G>T (p.Pro818=) c.2742G>T (p.Pro914=) n.2180G>T c.3852G>T (p.Pro1284=) c.3777G>T (p.Pro1259=) c.2727G>T (p.Pro909=) n.547G>T c.2751G>T (p.Pro917=) c.2802G>T (p.Pro934=) c.2529G>T (p.Pro843=) c.2853G>T (p.Pro951=) c.2763G>T (p.Pro921=) c.2754G>T (p.Pro918=) | |
3 | g.123284617C= | CA1398327442 | ADCY5 | c.2454G= (p.Pro818=) c.2742G= (p.Pro914=) n.2180G= c.3852G= (p.Pro1284=) c.3777G= (p.Pro1259=) c.2727G= (p.Pro909=) n.547G= c.2751G= (p.Pro917=) c.2802G= (p.Pro934=) c.2529G= (p.Pro843=) c.2853G= (p.Pro951=) c.2763G= (p.Pro921=) c.2754G= (p.Pro918=) | |
3 | g.123284617C>G | CA435297651 | ADCY5 | c.2454G>C (p.Pro818=) c.2742G>C (p.Pro914=) n.2180G>C c.3852G>C (p.Pro1284=) c.3777G>C (p.Pro1259=) c.2727G>C (p.Pro909=) n.547G>C c.2751G>C (p.Pro917=) c.2802G>C (p.Pro934=) c.2529G>C (p.Pro843=) c.2853G>C (p.Pro951=) c.2763G>C (p.Pro921=) c.2754G>C (p.Pro918=) | |
3 | g.123284617C>T | CA2576683 | ADCY5 | c.2454G>A (p.Pro818=) c.2742G>A (p.Pro914=) n.2180G>A c.3852G>A (p.Pro1284=) c.3777G>A (p.Pro1259=) c.2727G>A (p.Pro909=) n.547G>A c.2751G>A (p.Pro917=) c.2802G>A (p.Pro934=) c.2529G>A (p.Pro843=) c.2853G>A (p.Pro951=) c.2763G>A (p.Pro921=) c.2754G>A (p.Pro918=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123284618G>A | CA2576684 | ADCY5 | c.2453C>T (p.Pro818Leu) c.2741C>T (p.Pro914Leu) n.2179C>T c.3851C>T (p.Pro1284Leu) c.3776C>T (p.Pro1259Leu) c.2726C>T (p.Pro909Leu) n.546C>T c.2750C>T (p.Pro917Leu) c.2801C>T (p.Pro934Leu) c.2528C>T (p.Pro843Leu) c.2852C>T (p.Pro951Leu) c.2762C>T (p.Pro921Leu) c.2753C>T (p.Pro918Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123284618G>C | CA82899723 | ADCY5 | c.2453C>G (p.Pro818Arg) c.2741C>G (p.Pro914Arg) n.2179C>G c.3851C>G (p.Pro1284Arg) c.3776C>G (p.Pro1259Arg) c.2726C>G (p.Pro909Arg) n.546C>G c.2750C>G (p.Pro917Arg) c.2801C>G (p.Pro934Arg) c.2528C>G (p.Pro843Arg) c.2852C>G (p.Pro951Arg) c.2762C>G (p.Pro921Arg) c.2753C>G (p.Pro918Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123284618G= | CA1398327443 | ADCY5 | c.2453C= (p.Pro818=) c.2741C= (p.Pro914=) n.2179C= c.3851C= (p.Pro1284=) c.3776C= (p.Pro1259=) c.2726C= (p.Pro909=) n.546C= c.2750C= (p.Pro917=) c.2801C= (p.Pro934=) c.2528C= (p.Pro843=) c.2852C= (p.Pro951=) c.2762C= (p.Pro921=) c.2753C= (p.Pro918=) | |
3 | g.123284618G>T | CA354221743 | ADCY5 | c.2453C>A (p.Pro818Gln) c.2741C>A (p.Pro914Gln) n.2179C>A c.3851C>A (p.Pro1284Gln) c.3776C>A (p.Pro1259Gln) c.2726C>A (p.Pro909Gln) n.546C>A c.2750C>A (p.Pro917Gln) c.2801C>A (p.Pro934Gln) c.2528C>A (p.Pro843Gln) c.2852C>A (p.Pro951Gln) c.2762C>A (p.Pro921Gln) c.2753C>A (p.Pro918Gln) | |
3 | g.123284622dup | CA545690179 | ADCY5 | c.2453dup (p.Leu819AlafsTer?) c.2741dup (p.Leu915AlafsTer?) n.2179dup c.3851dup (p.Leu1285AlafsTer?) c.3776dup (p.Leu1260AlafsTer?) c.2726dup (p.Leu910AlafsTer?) n.546dup c.2750dup (p.Leu918AlafsTer?) c.2801dup (p.Leu935AlafsTer?) c.2528dup (p.Leu844AlafsTer?) c.2852dup (p.Leu952AlafsTer?) c.2762dup (p.Leu922AlafsTer?) c.2753dup (p.Leu919AlafsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123284619G>A | CA354221745 | ADCY5 | c.2452C>T (p.Pro818Ser) c.2740C>T (p.Pro914Ser) n.2178C>T c.3850C>T (p.Pro1284Ser) c.3775C>T (p.Pro1259Ser) c.2725C>T (p.Pro909Ser) n.545C>T c.2749C>T (p.Pro917Ser) c.2800C>T (p.Pro934Ser) c.2527C>T (p.Pro843Ser) c.2851C>T (p.Pro951Ser) c.2761C>T (p.Pro921Ser) c.2752C>T (p.Pro918Ser) | gnomAD v4 |
3 | g.123284619G>C | CA354221747 | ADCY5 | c.2452C>G (p.Pro818Ala) c.2740C>G (p.Pro914Ala) n.2178C>G c.3850C>G (p.Pro1284Ala) c.3775C>G (p.Pro1259Ala) c.2725C>G (p.Pro909Ala) n.545C>G c.2749C>G (p.Pro917Ala) c.2800C>G (p.Pro934Ala) c.2527C>G (p.Pro843Ala) c.2851C>G (p.Pro951Ala) c.2761C>G (p.Pro921Ala) c.2752C>G (p.Pro918Ala) | |
3 | g.123284619G>T | CA354221749 | ADCY5 | c.2452C>A (p.Pro818Thr) c.2740C>A (p.Pro914Thr) n.2178C>A c.3850C>A (p.Pro1284Thr) c.3775C>A (p.Pro1259Thr) c.2725C>A (p.Pro909Thr) n.545C>A c.2749C>A (p.Pro917Thr) c.2800C>A (p.Pro934Thr) c.2527C>A (p.Pro843Thr) c.2851C>A (p.Pro951Thr) c.2761C>A (p.Pro921Thr) c.2752C>A (p.Pro918Thr) | |
3 | g.123284620G>A | CA435297652 | ADCY5 | c.2451C>T (p.Pro817=) c.2739C>T (p.Pro913=) n.2177C>T c.3849C>T (p.Pro1283=) c.3774C>T (p.Pro1258=) c.2724C>T (p.Pro908=) n.544C>T c.2748C>T (p.Pro916=) c.2799C>T (p.Pro933=) c.2526C>T (p.Pro842=) c.2850C>T (p.Pro950=) c.2760C>T (p.Pro920=) c.2751C>T (p.Pro917=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.123284620G>C | CA435297653 | ADCY5 | c.2451C>G (p.Pro817=) c.2739C>G (p.Pro913=) n.2177C>G c.3849C>G (p.Pro1283=) c.3774C>G (p.Pro1258=) c.2724C>G (p.Pro908=) n.544C>G c.2748C>G (p.Pro916=) c.2799C>G (p.Pro933=) c.2526C>G (p.Pro842=) c.2850C>G (p.Pro950=) c.2760C>G (p.Pro920=) c.2751C>G (p.Pro917=) | |
3 | g.123284620G= | CA1398327444 | ADCY5 | c.2451C= (p.Pro817=) c.2739C= (p.Pro913=) n.2177C= c.3849C= (p.Pro1283=) c.3774C= (p.Pro1258=) c.2724C= (p.Pro908=) n.544C= c.2748C= (p.Pro916=) c.2799C= (p.Pro933=) c.2526C= (p.Pro842=) c.2850C= (p.Pro950=) c.2760C= (p.Pro920=) c.2751C= (p.Pro917=) | |
3 | g.123284620G>T | CA435297654 | ADCY5 | c.2451C>A (p.Pro817=) c.2739C>A (p.Pro913=) n.2177C>A c.3849C>A (p.Pro1283=) c.3774C>A (p.Pro1258=) c.2724C>A (p.Pro908=) n.544C>A c.2748C>A (p.Pro916=) c.2799C>A (p.Pro933=) c.2526C>A (p.Pro842=) c.2850C>A (p.Pro950=) c.2760C>A (p.Pro920=) c.2751C>A (p.Pro917=) | |
3 | g.123284621G>A | CA354221751 | ADCY5 | c.2450C>T (p.Pro817Leu) c.2738C>T (p.Pro913Leu) n.2176C>T c.3848C>T (p.Pro1283Leu) c.3773C>T (p.Pro1258Leu) c.2723C>T (p.Pro908Leu) n.543C>T c.2747C>T (p.Pro916Leu) c.2798C>T (p.Pro933Leu) c.2525C>T (p.Pro842Leu) c.2849C>T (p.Pro950Leu) c.2759C>T (p.Pro920Leu) c.2750C>T (p.Pro917Leu) | gnomAD v4 |
3 | g.123284621G>C | CA354221753 | ADCY5 | c.2450C>G (p.Pro817Arg) c.2738C>G (p.Pro913Arg) n.2176C>G c.3848C>G (p.Pro1283Arg) c.3773C>G (p.Pro1258Arg) c.2723C>G (p.Pro908Arg) n.543C>G c.2747C>G (p.Pro916Arg) c.2798C>G (p.Pro933Arg) c.2525C>G (p.Pro842Arg) c.2849C>G (p.Pro950Arg) c.2759C>G (p.Pro920Arg) c.2750C>G (p.Pro917Arg) | |
3 | g.123284621G>T | CA354221755 | ADCY5 | c.2450C>A (p.Pro817His) c.2738C>A (p.Pro913His) n.2176C>A c.3848C>A (p.Pro1283His) c.3773C>A (p.Pro1258His) c.2723C>A (p.Pro908His) n.543C>A c.2747C>A (p.Pro916His) c.2798C>A (p.Pro933His) c.2525C>A (p.Pro842His) c.2849C>A (p.Pro950His) c.2759C>A (p.Pro920His) c.2750C>A (p.Pro917His) | |
3 | g.123284622G>A | CA354221757 | ADCY5 | c.2449C>T (p.Pro817Ser) c.2737C>T (p.Pro913Ser) n.2175C>T c.3847C>T (p.Pro1283Ser) c.3772C>T (p.Pro1258Ser) c.2722C>T (p.Pro908Ser) n.542C>T c.2746C>T (p.Pro916Ser) c.2797C>T (p.Pro933Ser) c.2524C>T (p.Pro842Ser) c.2848C>T (p.Pro950Ser) c.2758C>T (p.Pro920Ser) c.2749C>T (p.Pro917Ser) | gnomAD v4 COSMIC |
3 | g.123284622G>C | CA354221759 | ADCY5 | c.2449C>G (p.Pro817Ala) c.2737C>G (p.Pro913Ala) n.2175C>G c.3847C>G (p.Pro1283Ala) c.3772C>G (p.Pro1258Ala) c.2722C>G (p.Pro908Ala) n.542C>G c.2746C>G (p.Pro916Ala) c.2797C>G (p.Pro933Ala) c.2524C>G (p.Pro842Ala) c.2848C>G (p.Pro950Ala) c.2758C>G (p.Pro920Ala) c.2749C>G (p.Pro917Ala) | |
3 | g.123284622G>T | CA354221761 | ADCY5 | c.2449C>A (p.Pro817Thr) c.2737C>A (p.Pro913Thr) n.2175C>A c.3847C>A (p.Pro1283Thr) c.3772C>A (p.Pro1258Thr) c.2722C>A (p.Pro908Thr) n.542C>A c.2746C>A (p.Pro916Thr) c.2797C>A (p.Pro933Thr) c.2524C>A (p.Pro842Thr) c.2848C>A (p.Pro950Thr) c.2758C>A (p.Pro920Thr) c.2749C>A (p.Pro917Thr) | COSMIC |
3 | g.123284623C>A | CA435297655 | ADCY5 | c.2448G>T (p.Gly816=) c.2736G>T (p.Gly912=) n.2174G>T c.3846G>T (p.Gly1282=) c.3771G>T (p.Gly1257=) c.2721G>T (p.Gly907=) n.541G>T c.2745G>T (p.Gly915=) c.2796G>T (p.Gly932=) c.2523G>T (p.Gly841=) c.2847G>T (p.Gly949=) c.2757G>T (p.Gly919=) c.2748G>T (p.Gly916=) | |
3 | g.123284623C= | CA1398327445 | ADCY5 | c.2448G= (p.Gly816=) c.2736G= (p.Gly912=) n.2174G= c.3846G= (p.Gly1282=) c.3771G= (p.Gly1257=) c.2721G= (p.Gly907=) n.541G= c.2745G= (p.Gly915=) c.2796G= (p.Gly932=) c.2523G= (p.Gly841=) c.2847G= (p.Gly949=) c.2757G= (p.Gly919=) c.2748G= (p.Gly916=) | |
3 | g.123284623C>G | CA435297656 | ADCY5 | c.2448G>C (p.Gly816=) c.2736G>C (p.Gly912=) n.2174G>C c.3846G>C (p.Gly1282=) c.3771G>C (p.Gly1257=) c.2721G>C (p.Gly907=) n.541G>C c.2745G>C (p.Gly915=) c.2796G>C (p.Gly932=) c.2523G>C (p.Gly841=) c.2847G>C (p.Gly949=) c.2757G>C (p.Gly919=) c.2748G>C (p.Gly916=) | gnomAD v4 |
3 | g.123284623C>T | CA2576685 | ADCY5 | c.2448G>A (p.Gly816=) c.2736G>A (p.Gly912=) n.2174G>A c.3846G>A (p.Gly1282=) c.3771G>A (p.Gly1257=) c.2721G>A (p.Gly907=) n.541G>A c.2745G>A (p.Gly915=) c.2796G>A (p.Gly932=) c.2523G>A (p.Gly841=) c.2847G>A (p.Gly949=) c.2757G>A (p.Gly919=) c.2748G>A (p.Gly916=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123284624C>A | CA354221765 | ADCY5 | c.2447G>T (p.Gly816Val) c.2735G>T (p.Gly912Val) n.2173G>T c.3845G>T (p.Gly1282Val) c.3770G>T (p.Gly1257Val) c.2720G>T (p.Gly907Val) n.540G>T c.2744G>T (p.Gly915Val) c.2795G>T (p.Gly932Val) c.2522G>T (p.Gly841Val) c.2846G>T (p.Gly949Val) c.2756G>T (p.Gly919Val) c.2747G>T (p.Gly916Val) | |
3 | g.123284624C>G | CA354221767 | ADCY5 | c.2447G>C (p.Gly816Ala) c.2735G>C (p.Gly912Ala) n.2173G>C c.3845G>C (p.Gly1282Ala) c.3770G>C (p.Gly1257Ala) c.2720G>C (p.Gly907Ala) n.540G>C c.2744G>C (p.Gly915Ala) c.2795G>C (p.Gly932Ala) c.2522G>C (p.Gly841Ala) c.2846G>C (p.Gly949Ala) c.2756G>C (p.Gly919Ala) c.2747G>C (p.Gly916Ala) | |
3 | g.123284624C>T | CA354221769 | ADCY5 | c.2447G>A (p.Gly816Glu) c.2735G>A (p.Gly912Glu) n.2173G>A c.3845G>A (p.Gly1282Glu) c.3770G>A (p.Gly1257Glu) c.2720G>A (p.Gly907Glu) n.540G>A c.2744G>A (p.Gly915Glu) c.2795G>A (p.Gly932Glu) c.2522G>A (p.Gly841Glu) c.2846G>A (p.Gly949Glu) c.2756G>A (p.Gly919Glu) c.2747G>A (p.Gly916Glu) | |
3 | g.123284625C>A | CA354221773 | ADCY5 | c.2446G>T (p.Gly816Trp) c.2734G>T (p.Gly912Trp) n.2172G>T c.3844G>T (p.Gly1282Trp) c.3769G>T (p.Gly1257Trp) c.2719G>T (p.Gly907Trp) n.539G>T c.2743G>T (p.Gly915Trp) c.2794G>T (p.Gly932Trp) c.2521G>T (p.Gly841Trp) c.2845G>T (p.Gly949Trp) c.2755G>T (p.Gly919Trp) c.2746G>T (p.Gly916Trp) | |
3 | g.123284625C= | CA1398327446 | ADCY5 | c.2446G= (p.Gly816=) c.2734G= (p.Gly912=) n.2172G= c.3844G= (p.Gly1282=) c.3769G= (p.Gly1257=) c.2719G= (p.Gly907=) n.539G= c.2743G= (p.Gly915=) c.2794G= (p.Gly932=) c.2521G= (p.Gly841=) c.2845G= (p.Gly949=) c.2755G= (p.Gly919=) c.2746G= (p.Gly916=) | |
3 | g.123284625C>G | CA354221775 | ADCY5 | c.2446G>C (p.Gly816Arg) c.2734G>C (p.Gly912Arg) n.2172G>C c.3844G>C (p.Gly1282Arg) c.3769G>C (p.Gly1257Arg) c.2719G>C (p.Gly907Arg) n.539G>C c.2743G>C (p.Gly915Arg) c.2794G>C (p.Gly932Arg) c.2521G>C (p.Gly841Arg) c.2845G>C (p.Gly949Arg) c.2755G>C (p.Gly919Arg) c.2746G>C (p.Gly916Arg) | |
3 | g.123284625C>T | CA354221772 | ADCY5 | c.2446G>A (p.Gly816Arg) c.2734G>A (p.Gly912Arg) n.2172G>A c.3844G>A (p.Gly1282Arg) c.3769G>A (p.Gly1257Arg) c.2719G>A (p.Gly907Arg) n.539G>A c.2743G>A (p.Gly915Arg) c.2794G>A (p.Gly932Arg) c.2521G>A (p.Gly841Arg) c.2845G>A (p.Gly949Arg) c.2755G>A (p.Gly919Arg) c.2746G>A (p.Gly916Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.123284626T>A | CA435297657 | ADCY5 | c.2445A>T (p.Gly815=) c.2733A>T (p.Gly911=) n.2171A>T c.3843A>T (p.Gly1281=) c.3768A>T (p.Gly1256=) c.2718A>T (p.Gly906=) n.538A>T c.2742A>T (p.Gly914=) c.2793A>T (p.Gly931=) c.2520A>T (p.Gly840=) c.2844A>T (p.Gly948=) c.2754A>T (p.Gly918=) c.2745A>T (p.Gly915=) | |
3 | g.123284626T>C | CA435297659 | ADCY5 | c.2445A>G (p.Gly815=) c.2733A>G (p.Gly911=) n.2171A>G c.3843A>G (p.Gly1281=) c.3768A>G (p.Gly1256=) c.2718A>G (p.Gly906=) n.538A>G c.2742A>G (p.Gly914=) c.2793A>G (p.Gly931=) c.2520A>G (p.Gly840=) c.2844A>G (p.Gly948=) c.2754A>G (p.Gly918=) c.2745A>G (p.Gly915=) | |
3 | g.123284626T>G | CA435297658 | ADCY5 | c.2445A>C (p.Gly815=) c.2733A>C (p.Gly911=) n.2171A>C c.3843A>C (p.Gly1281=) c.3768A>C (p.Gly1256=) c.2718A>C (p.Gly906=) n.538A>C c.2742A>C (p.Gly914=) c.2793A>C (p.Gly931=) c.2520A>C (p.Gly840=) c.2844A>C (p.Gly948=) c.2754A>C (p.Gly918=) c.2745A>C (p.Gly915=) | |
3 | g.123284627C>A | CA354221778 | ADCY5 | c.2444G>T (p.Gly815Val) c.2732G>T (p.Gly911Val) n.2170G>T c.3842G>T (p.Gly1281Val) c.3767G>T (p.Gly1256Val) c.2717G>T (p.Gly906Val) n.537G>T c.2741G>T (p.Gly914Val) c.2792G>T (p.Gly931Val) c.2519G>T (p.Gly840Val) c.2843G>T (p.Gly948Val) c.2753G>T (p.Gly918Val) c.2744G>T (p.Gly915Val) | |
3 | g.123284627C= | CA1398327447 | ADCY5 | c.2444G= (p.Gly815=) c.2732G= (p.Gly911=) n.2170G= c.3842G= (p.Gly1281=) c.3767G= (p.Gly1256=) c.2717G= (p.Gly906=) n.537G= c.2741G= (p.Gly914=) c.2792G= (p.Gly931=) c.2519G= (p.Gly840=) c.2843G= (p.Gly948=) c.2753G= (p.Gly918=) c.2744G= (p.Gly915=) | |
3 | g.123284627C>G | CA2576686 | ADCY5 | c.2444G>C (p.Gly815Ala) c.2732G>C (p.Gly911Ala) n.2170G>C c.3842G>C (p.Gly1281Ala) c.3767G>C (p.Gly1256Ala) c.2717G>C (p.Gly906Ala) n.537G>C c.2741G>C (p.Gly914Ala) c.2792G>C (p.Gly931Ala) c.2519G>C (p.Gly840Ala) c.2843G>C (p.Gly948Ala) c.2753G>C (p.Gly918Ala) c.2744G>C (p.Gly915Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123284627C>T | CA354221781 | ADCY5 | c.2444G>A (p.Gly815Glu) c.2732G>A (p.Gly911Glu) n.2170G>A c.3842G>A (p.Gly1281Glu) c.3767G>A (p.Gly1256Glu) c.2717G>A (p.Gly906Glu) n.537G>A c.2741G>A (p.Gly914Glu) c.2792G>A (p.Gly931Glu) c.2519G>A (p.Gly840Glu) c.2843G>A (p.Gly948Glu) c.2753G>A (p.Gly918Glu) c.2744G>A (p.Gly915Glu) | gnomAD v4 |
3 | g.123284628C>A | CA354221784 | ADCY5 | c.2443G>T (p.Gly815Ter) c.2731G>T (p.Gly911Ter) n.2169G>T c.3841G>T (p.Gly1281Ter) c.3766G>T (p.Gly1256Ter) c.2716G>T (p.Gly906Ter) n.536G>T c.2740G>T (p.Gly914Ter) c.2791G>T (p.Gly931Ter) c.2518G>T (p.Gly840Ter) c.2842G>T (p.Gly948Ter) c.2752G>T (p.Gly918Ter) c.2743G>T (p.Gly915Ter) | dbSNP |
3 | g.123284628C= | CA1398327448 | ADCY5 | c.2443G= (p.Gly815=) c.2731G= (p.Gly911=) n.2169G= c.3841G= (p.Gly1281=) c.3766G= (p.Gly1256=) c.2716G= (p.Gly906=) n.536G= c.2740G= (p.Gly914=) c.2791G= (p.Gly931=) c.2518G= (p.Gly840=) c.2842G= (p.Gly948=) c.2752G= (p.Gly918=) c.2743G= (p.Gly915=) | |
3 | g.123284628C>G | CA354221788 | ADCY5 | c.2443G>C (p.Gly815Arg) c.2731G>C (p.Gly911Arg) n.2169G>C c.3841G>C (p.Gly1281Arg) c.3766G>C (p.Gly1256Arg) c.2716G>C (p.Gly906Arg) n.536G>C c.2740G>C (p.Gly914Arg) c.2791G>C (p.Gly931Arg) c.2518G>C (p.Gly840Arg) c.2842G>C (p.Gly948Arg) c.2752G>C (p.Gly918Arg) c.2743G>C (p.Gly915Arg) | |
3 | g.123284628C>T | CA354221786 | ADCY5 | c.2443G>A (p.Gly815Arg) c.2731G>A (p.Gly911Arg) n.2169G>A c.3841G>A (p.Gly1281Arg) c.3766G>A (p.Gly1256Arg) c.2716G>A (p.Gly906Arg) n.536G>A c.2740G>A (p.Gly914Arg) c.2791G>A (p.Gly931Arg) c.2518G>A (p.Gly840Arg) c.2842G>A (p.Gly948Arg) c.2752G>A (p.Gly918Arg) c.2743G>A (p.Gly915Arg) | |
3 | g.123284629A>C | CA354221790 | ADCY5 | c.2442T>G (p.Asn814Lys) c.2730T>G (p.Asn910Lys) n.2168T>G c.3840T>G (p.Asn1280Lys) c.3765T>G (p.Asn1255Lys) c.2715T>G (p.Asn905Lys) n.535T>G c.2739T>G (p.Asn913Lys) c.2790T>G (p.Asn930Lys) c.2517T>G (p.Asn839Lys) c.2841T>G (p.Asn947Lys) c.2751T>G (p.Asn917Lys) c.2742T>G (p.Asn914Lys) | gnomAD v4 |
3 | g.123284629A>G | CA435297661 | ADCY5 | c.2442T>C (p.Asn814=) c.2730T>C (p.Asn910=) n.2168T>C c.3840T>C (p.Asn1280=) c.3765T>C (p.Asn1255=) c.2715T>C (p.Asn905=) n.535T>C c.2739T>C (p.Asn913=) c.2790T>C (p.Asn930=) c.2517T>C (p.Asn839=) c.2841T>C (p.Asn947=) c.2751T>C (p.Asn917=) c.2742T>C (p.Asn914=) | gnomAD v4 |
3 | g.123284629A>T | CA354221792 | ADCY5 | c.2442T>A (p.Asn814Lys) c.2730T>A (p.Asn910Lys) n.2168T>A c.3840T>A (p.Asn1280Lys) c.3765T>A (p.Asn1255Lys) c.2715T>A (p.Asn905Lys) n.535T>A c.2739T>A (p.Asn913Lys) c.2790T>A (p.Asn930Lys) c.2517T>A (p.Asn839Lys) c.2841T>A (p.Asn947Lys) c.2751T>A (p.Asn917Lys) c.2742T>A (p.Asn914Lys) | |
3 | g.123284630T>A | CA354221794 | ADCY5 | c.2441A>T (p.Asn814Ile) c.2729A>T (p.Asn910Ile) n.2167A>T c.3839A>T (p.Asn1280Ile) c.3764A>T (p.Asn1255Ile) c.2714A>T (p.Asn905Ile) n.534A>T c.2738A>T (p.Asn913Ile) c.2789A>T (p.Asn930Ile) c.2516A>T (p.Asn839Ile) c.2840A>T (p.Asn947Ile) c.2750A>T (p.Asn917Ile) c.2741A>T (p.Asn914Ile) | |
3 | g.123284630T>C | CA2576687 | ADCY5 | c.2441A>G (p.Asn814Ser) c.2729A>G (p.Asn910Ser) n.2167A>G c.3839A>G (p.Asn1280Ser) c.3764A>G (p.Asn1255Ser) c.2714A>G (p.Asn905Ser) n.534A>G c.2738A>G (p.Asn913Ser) c.2789A>G (p.Asn930Ser) c.2516A>G (p.Asn839Ser) c.2840A>G (p.Asn947Ser) c.2750A>G (p.Asn917Ser) c.2741A>G (p.Asn914Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123284630T>G | CA354221795 | ADCY5 | c.2441A>C (p.Asn814Thr) c.2729A>C (p.Asn910Thr) n.2167A>C c.3839A>C (p.Asn1280Thr) c.3764A>C (p.Asn1255Thr) c.2714A>C (p.Asn905Thr) n.534A>C c.2738A>C (p.Asn913Thr) c.2789A>C (p.Asn930Thr) c.2516A>C (p.Asn839Thr) c.2840A>C (p.Asn947Thr) c.2750A>C (p.Asn917Thr) c.2741A>C (p.Asn914Thr) | |
3 | g.123284630T= | CA1398327449 | ADCY5 | c.2441A= (p.Asn814=) c.2729A= (p.Asn910=) n.2167A= c.3839A= (p.Asn1280=) c.3764A= (p.Asn1255=) c.2714A= (p.Asn905=) n.534A= c.2738A= (p.Asn913=) c.2789A= (p.Asn930=) c.2516A= (p.Asn839=) c.2840A= (p.Asn947=) c.2750A= (p.Asn917=) c.2741A= (p.Asn914=) | |
3 | g.123284631T>A | CA354221798 | ADCY5 | c.2440A>T (p.Asn814Tyr) c.2728A>T (p.Asn910Tyr) n.2166A>T c.3838A>T (p.Asn1280Tyr) c.3763A>T (p.Asn1255Tyr) c.2713A>T (p.Asn905Tyr) n.533A>T c.2737A>T (p.Asn913Tyr) c.2788A>T (p.Asn930Tyr) c.2515A>T (p.Asn839Tyr) c.2839A>T (p.Asn947Tyr) c.2749A>T (p.Asn917Tyr) c.2740A>T (p.Asn914Tyr) | |
3 | g.123284631T>C | CA354221800 | ADCY5 | c.2440A>G (p.Asn814Asp) c.2728A>G (p.Asn910Asp) n.2166A>G c.3838A>G (p.Asn1280Asp) c.3763A>G (p.Asn1255Asp) c.2713A>G (p.Asn905Asp) n.533A>G c.2737A>G (p.Asn913Asp) c.2788A>G (p.Asn930Asp) c.2515A>G (p.Asn839Asp) c.2839A>G (p.Asn947Asp) c.2749A>G (p.Asn917Asp) c.2740A>G (p.Asn914Asp) | |
3 | g.123284631T>G | CA354221802 | ADCY5 | c.2440A>C (p.Asn814His) c.2728A>C (p.Asn910His) n.2166A>C c.3838A>C (p.Asn1280His) c.3763A>C (p.Asn1255His) c.2713A>C (p.Asn905His) n.533A>C c.2737A>C (p.Asn913His) c.2788A>C (p.Asn930His) c.2515A>C (p.Asn839His) c.2839A>C (p.Asn947His) c.2749A>C (p.Asn917His) c.2740A>C (p.Asn914His) | |
3 | g.123284632G>A | CA435297662 | ADCY5 | c.2439C>T (p.Leu813=) c.2727C>T (p.Leu909=) n.2165C>T c.3837C>T (p.Leu1279=) c.3762C>T (p.Leu1254=) c.2712C>T (p.Leu904=) n.532C>T c.2736C>T (p.Leu912=) c.2787C>T (p.Leu929=) c.2514C>T (p.Leu838=) c.2838C>T (p.Leu946=) c.2748C>T (p.Leu916=) c.2739C>T (p.Leu913=) | |
3 | g.123284632G>C | CA435297663 | ADCY5 | c.2439C>G (p.Leu813=) c.2727C>G (p.Leu909=) n.2165C>G c.3837C>G (p.Leu1279=) c.3762C>G (p.Leu1254=) c.2712C>G (p.Leu904=) n.532C>G c.2736C>G (p.Leu912=) c.2787C>G (p.Leu929=) c.2514C>G (p.Leu838=) c.2838C>G (p.Leu946=) c.2748C>G (p.Leu916=) c.2739C>G (p.Leu913=) | |
3 | g.123284632G>T | CA435297664 | ADCY5 | c.2439C>A (p.Leu813=) c.2727C>A (p.Leu909=) n.2165C>A c.3837C>A (p.Leu1279=) c.3762C>A (p.Leu1254=) c.2712C>A (p.Leu904=) n.532C>A c.2736C>A (p.Leu912=) c.2787C>A (p.Leu929=) c.2514C>A (p.Leu838=) c.2838C>A (p.Leu946=) c.2748C>A (p.Leu916=) c.2739C>A (p.Leu913=) | |
3 | g.123284633del | CA2577874719 | ADCY5 | c.2438del (p.Leu813ProfsTer?) c.2726del (p.Leu909ProfsTer?) n.2164del c.3836del (p.Leu1279ProfsTer?) c.3761del (p.Leu1254ProfsTer?) c.2711del (p.Leu904ProfsTer?) n.531del c.2735del (p.Leu912ProfsTer?) c.2786del (p.Leu929ProfsTer?) c.2513del (p.Leu838ProfsTer?) c.2837del (p.Leu946ProfsTer?) c.2747del (p.Leu916ProfsTer?) c.2738del (p.Leu913ProfsTer?) | |
3 | g.123284633A>C | CA354221805 | ADCY5 | c.2438T>G (p.Leu813Arg) c.2726T>G (p.Leu909Arg) n.2164T>G c.3836T>G (p.Leu1279Arg) c.3761T>G (p.Leu1254Arg) c.2711T>G (p.Leu904Arg) n.531T>G c.2735T>G (p.Leu912Arg) c.2786T>G (p.Leu929Arg) c.2513T>G (p.Leu838Arg) c.2837T>G (p.Leu946Arg) c.2747T>G (p.Leu916Arg) c.2738T>G (p.Leu913Arg) | |
3 | g.123284633A>G | CA354221806 | ADCY5 | c.2438T>C (p.Leu813Pro) c.2726T>C (p.Leu909Pro) n.2164T>C c.3836T>C (p.Leu1279Pro) c.3761T>C (p.Leu1254Pro) c.2711T>C (p.Leu904Pro) n.531T>C c.2735T>C (p.Leu912Pro) c.2786T>C (p.Leu929Pro) c.2513T>C (p.Leu838Pro) c.2837T>C (p.Leu946Pro) c.2747T>C (p.Leu916Pro) c.2738T>C (p.Leu913Pro) | |
3 | g.123284633A>T | CA354221808 | ADCY5 | c.2438T>A (p.Leu813His) c.2726T>A (p.Leu909His) n.2164T>A c.3836T>A (p.Leu1279His) c.3761T>A (p.Leu1254His) c.2711T>A (p.Leu904His) n.531T>A c.2735T>A (p.Leu912His) c.2786T>A (p.Leu929His) c.2513T>A (p.Leu838His) c.2837T>A (p.Leu946His) c.2747T>A (p.Leu916His) c.2738T>A (p.Leu913His) | |
3 | g.123284634G>A | CA354221810 | ADCY5 | c.2437C>T (p.Leu813Phe) c.2725C>T (p.Leu909Phe) n.2163C>T c.3835C>T (p.Leu1279Phe) c.3760C>T (p.Leu1254Phe) c.2710C>T (p.Leu904Phe) n.530C>T c.2734C>T (p.Leu912Phe) c.2785C>T (p.Leu929Phe) c.2512C>T (p.Leu838Phe) c.2836C>T (p.Leu946Phe) c.2746C>T (p.Leu916Phe) c.2737C>T (p.Leu913Phe) | |
3 | g.123284634G>C | CA354221812 | ADCY5 | c.2437C>G (p.Leu813Val) c.2725C>G (p.Leu909Val) n.2163C>G c.3835C>G (p.Leu1279Val) c.3760C>G (p.Leu1254Val) c.2710C>G (p.Leu904Val) n.530C>G c.2734C>G (p.Leu912Val) c.2785C>G (p.Leu929Val) c.2512C>G (p.Leu838Val) c.2836C>G (p.Leu946Val) c.2746C>G (p.Leu916Val) c.2737C>G (p.Leu913Val) | |
3 | g.123284634G>T | CA354221813 | ADCY5 | c.2437C>A (p.Leu813Ile) c.2725C>A (p.Leu909Ile) n.2163C>A c.3835C>A (p.Leu1279Ile) c.3760C>A (p.Leu1254Ile) c.2710C>A (p.Leu904Ile) n.530C>A c.2734C>A (p.Leu912Ile) c.2785C>A (p.Leu929Ile) c.2512C>A (p.Leu838Ile) c.2836C>A (p.Leu946Ile) c.2746C>A (p.Leu916Ile) c.2737C>A (p.Leu913Ile) | |
3 | g.123284635G>A | CA435297665 | ADCY5 | c.2436C>T (p.Phe812=) c.2724C>T (p.Phe908=) n.2162C>T c.3834C>T (p.Phe1278=) c.3759C>T (p.Phe1253=) c.2709C>T (p.Phe903=) n.529C>T c.2733C>T (p.Phe911=) c.2784C>T (p.Phe928=) c.2511C>T (p.Phe837=) c.2835C>T (p.Phe945=) c.2745C>T (p.Phe915=) c.2736C>T (p.Phe912=) | dbSNP |
3 | g.123284635G>C | CA354221814 | ADCY5 | c.2436C>G (p.Phe812Leu) c.2724C>G (p.Phe908Leu) n.2162C>G c.3834C>G (p.Phe1278Leu) c.3759C>G (p.Phe1253Leu) c.2709C>G (p.Phe903Leu) n.529C>G c.2733C>G (p.Phe911Leu) c.2784C>G (p.Phe928Leu) c.2511C>G (p.Phe837Leu) c.2835C>G (p.Phe945Leu) c.2745C>G (p.Phe915Leu) c.2736C>G (p.Phe912Leu) | |
3 | g.123284635G= | CA1398327450 | ADCY5 | c.2436C= (p.Phe812=) c.2724C= (p.Phe908=) n.2162C= c.3834C= (p.Phe1278=) c.3759C= (p.Phe1253=) c.2709C= (p.Phe903=) n.529C= c.2733C= (p.Phe911=) c.2784C= (p.Phe928=) c.2511C= (p.Phe837=) c.2835C= (p.Phe945=) c.2745C= (p.Phe915=) c.2736C= (p.Phe912=) | |
3 | g.123284635G>T | CA354221816 | ADCY5 | c.2436C>A (p.Phe812Leu) c.2724C>A (p.Phe908Leu) n.2162C>A c.3834C>A (p.Phe1278Leu) c.3759C>A (p.Phe1253Leu) c.2709C>A (p.Phe903Leu) n.529C>A c.2733C>A (p.Phe911Leu) c.2784C>A (p.Phe928Leu) c.2511C>A (p.Phe837Leu) c.2835C>A (p.Phe945Leu) c.2745C>A (p.Phe915Leu) c.2736C>A (p.Phe912Leu) | |
3 | g.123284636A>C | CA354221822 | ADCY5 | c.2435T>G (p.Phe812Cys) c.2723T>G (p.Phe908Cys) n.2161T>G c.3833T>G (p.Phe1278Cys) c.3758T>G (p.Phe1253Cys) c.2708T>G (p.Phe903Cys) n.528T>G c.2732T>G (p.Phe911Cys) c.2783T>G (p.Phe928Cys) c.2510T>G (p.Phe837Cys) c.2834T>G (p.Phe945Cys) c.2744T>G (p.Phe915Cys) c.2735T>G (p.Phe912Cys) | |
3 | g.123284636A>G | CA354221820 | ADCY5 | c.2435T>C (p.Phe812Ser) c.2723T>C (p.Phe908Ser) n.2161T>C c.3833T>C (p.Phe1278Ser) c.3758T>C (p.Phe1253Ser) c.2708T>C (p.Phe903Ser) n.528T>C c.2732T>C (p.Phe911Ser) c.2783T>C (p.Phe928Ser) c.2510T>C (p.Phe837Ser) c.2834T>C (p.Phe945Ser) c.2744T>C (p.Phe915Ser) c.2735T>C (p.Phe912Ser) | |
3 | g.123284636A>T | CA354221818 | ADCY5 | c.2435T>A (p.Phe812Tyr) c.2723T>A (p.Phe908Tyr) n.2161T>A c.3833T>A (p.Phe1278Tyr) c.3758T>A (p.Phe1253Tyr) c.2708T>A (p.Phe903Tyr) n.528T>A c.2732T>A (p.Phe911Tyr) c.2783T>A (p.Phe928Tyr) c.2510T>A (p.Phe837Tyr) c.2834T>A (p.Phe945Tyr) c.2744T>A (p.Phe915Tyr) c.2735T>A (p.Phe912Tyr) | |
3 | g.123284637A= | CA1398327451 | ADCY5 | c.2434T= (p.Phe812=) c.2722T= (p.Phe908=) n.2160T= c.3832T= (p.Phe1278=) c.3757T= (p.Phe1253=) c.2707T= (p.Phe903=) n.527T= c.2731T= (p.Phe911=) c.2782T= (p.Phe928=) c.2509T= (p.Phe837=) c.2833T= (p.Phe945=) c.2743T= (p.Phe915=) c.2734T= (p.Phe912=) | |
3 | g.123284637A>C | CA354221824 | ADCY5 | c.2434T>G (p.Phe812Val) c.2722T>G (p.Phe908Val) n.2160T>G c.3832T>G (p.Phe1278Val) c.3757T>G (p.Phe1253Val) c.2707T>G (p.Phe903Val) n.527T>G c.2731T>G (p.Phe911Val) c.2782T>G (p.Phe928Val) c.2509T>G (p.Phe837Val) c.2833T>G (p.Phe945Val) c.2743T>G (p.Phe915Val) c.2734T>G (p.Phe912Val) | |
3 | g.123284637A>G | CA2576688 | ADCY5 | c.2434T>C (p.Phe812Leu) c.2722T>C (p.Phe908Leu) n.2160T>C c.3832T>C (p.Phe1278Leu) c.3757T>C (p.Phe1253Leu) c.2707T>C (p.Phe903Leu) n.527T>C c.2731T>C (p.Phe911Leu) c.2782T>C (p.Phe928Leu) c.2509T>C (p.Phe837Leu) c.2833T>C (p.Phe945Leu) c.2743T>C (p.Phe915Leu) c.2734T>C (p.Phe912Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123284637A>T | CA354221827 | ADCY5 | c.2434T>A (p.Phe812Ile) c.2722T>A (p.Phe908Ile) n.2160T>A c.3832T>A (p.Phe1278Ile) c.3757T>A (p.Phe1253Ile) c.2707T>A (p.Phe903Ile) n.527T>A c.2731T>A (p.Phe911Ile) c.2782T>A (p.Phe928Ile) c.2509T>A (p.Phe837Ile) c.2833T>A (p.Phe945Ile) c.2743T>A (p.Phe915Ile) c.2734T>A (p.Phe912Ile) | |
3 | g.123284638G>A | CA2576689 | ADCY5 | c.2433C>T (p.Tyr811=) c.2721C>T (p.Tyr907=) n.2159C>T c.3831C>T (p.Tyr1277=) c.3756C>T (p.Tyr1252=) c.2706C>T (p.Tyr902=) n.526C>T c.2730C>T (p.Tyr910=) c.2781C>T (p.Tyr927=) c.2508C>T (p.Tyr836=) c.2832C>T (p.Tyr944=) c.2742C>T (p.Tyr914=) c.2733C>T (p.Tyr911=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123284638G>C | CA354221830 | ADCY5 | c.2433C>G (p.Tyr811Ter) c.2721C>G (p.Tyr907Ter) n.2159C>G c.3831C>G (p.Tyr1277Ter) c.3756C>G (p.Tyr1252Ter) c.2706C>G (p.Tyr902Ter) n.526C>G c.2730C>G (p.Tyr910Ter) c.2781C>G (p.Tyr927Ter) c.2508C>G (p.Tyr836Ter) c.2832C>G (p.Tyr944Ter) c.2742C>G (p.Tyr914Ter) c.2733C>G (p.Tyr911Ter) | COSMIC |
3 | g.123284638G= | CA1398327452 | ADCY5 | c.2433C= (p.Tyr811=) c.2721C= (p.Tyr907=) n.2159C= c.3831C= (p.Tyr1277=) c.3756C= (p.Tyr1252=) c.2706C= (p.Tyr902=) n.526C= c.2730C= (p.Tyr910=) c.2781C= (p.Tyr927=) c.2508C= (p.Tyr836=) c.2832C= (p.Tyr944=) c.2742C= (p.Tyr914=) c.2733C= (p.Tyr911=) | |
3 | g.123284638G>T | CA354221832 | ADCY5 | c.2433C>A (p.Tyr811Ter) c.2721C>A (p.Tyr907Ter) n.2159C>A c.3831C>A (p.Tyr1277Ter) c.3756C>A (p.Tyr1252Ter) c.2706C>A (p.Tyr902Ter) n.526C>A c.2730C>A (p.Tyr910Ter) c.2781C>A (p.Tyr927Ter) c.2508C>A (p.Tyr836Ter) c.2832C>A (p.Tyr944Ter) c.2742C>A (p.Tyr914Ter) c.2733C>A (p.Tyr911Ter) | |
3 | g.123284639T>A | CA354221834 | ADCY5 | c.2432A>T (p.Tyr811Phe) c.2720A>T (p.Tyr907Phe) n.2158A>T c.3830A>T (p.Tyr1277Phe) c.3755A>T (p.Tyr1252Phe) c.2705A>T (p.Tyr902Phe) n.525A>T c.2729A>T (p.Tyr910Phe) c.2780A>T (p.Tyr927Phe) c.2507A>T (p.Tyr836Phe) c.2831A>T (p.Tyr944Phe) c.2741A>T (p.Tyr914Phe) c.2732A>T (p.Tyr911Phe) | |
3 | g.123284639T>C | CA354221837 | ADCY5 | c.2432A>G (p.Tyr811Cys) c.2720A>G (p.Tyr907Cys) n.2158A>G c.3830A>G (p.Tyr1277Cys) c.3755A>G (p.Tyr1252Cys) c.2705A>G (p.Tyr902Cys) n.525A>G c.2729A>G (p.Tyr910Cys) c.2780A>G (p.Tyr927Cys) c.2507A>G (p.Tyr836Cys) c.2831A>G (p.Tyr944Cys) c.2741A>G (p.Tyr914Cys) c.2732A>G (p.Tyr911Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.123284639T>G | CA354221839 | ADCY5 | c.2432A>C (p.Tyr811Ser) c.2720A>C (p.Tyr907Ser) n.2158A>C c.3830A>C (p.Tyr1277Ser) c.3755A>C (p.Tyr1252Ser) c.2705A>C (p.Tyr902Ser) n.525A>C c.2729A>C (p.Tyr910Ser) c.2780A>C (p.Tyr927Ser) c.2507A>C (p.Tyr836Ser) c.2831A>C (p.Tyr944Ser) c.2741A>C (p.Tyr914Ser) c.2732A>C (p.Tyr911Ser) | |
3 | g.123284639T= | CA1398327453 | ADCY5 | c.2432A= (p.Tyr811=) c.2720A= (p.Tyr907=) n.2158A= c.3830A= (p.Tyr1277=) c.3755A= (p.Tyr1252=) c.2705A= (p.Tyr902=) n.525A= c.2729A= (p.Tyr910=) c.2780A= (p.Tyr927=) c.2507A= (p.Tyr836=) c.2831A= (p.Tyr944=) c.2741A= (p.Tyr914=) c.2732A= (p.Tyr911=) | |
3 | g.123284640A>C | CA354221841 | ADCY5 | c.2431T>G (p.Tyr811Asp) c.2719T>G (p.Tyr907Asp) n.2157T>G c.3829T>G (p.Tyr1277Asp) c.3754T>G (p.Tyr1252Asp) c.2704T>G (p.Tyr902Asp) n.524T>G c.2728T>G (p.Tyr910Asp) c.2779T>G (p.Tyr927Asp) c.2506T>G (p.Tyr836Asp) c.2830T>G (p.Tyr944Asp) c.2740T>G (p.Tyr914Asp) c.2731T>G (p.Tyr911Asp) | |
3 | g.123284640A>G | CA354221843 | ADCY5 | c.2431T>C (p.Tyr811His) c.2719T>C (p.Tyr907His) n.2157T>C c.3829T>C (p.Tyr1277His) c.3754T>C (p.Tyr1252His) c.2704T>C (p.Tyr902His) n.524T>C c.2728T>C (p.Tyr910His) c.2779T>C (p.Tyr927His) c.2506T>C (p.Tyr836His) c.2830T>C (p.Tyr944His) c.2740T>C (p.Tyr914His) c.2731T>C (p.Tyr911His) | |
3 | g.123284640A>T | CA354221844 | ADCY5 | c.2431T>A (p.Tyr811Asn) c.2719T>A (p.Tyr907Asn) n.2157T>A c.3829T>A (p.Tyr1277Asn) c.3754T>A (p.Tyr1252Asn) c.2704T>A (p.Tyr902Asn) n.524T>A c.2728T>A (p.Tyr910Asn) c.2779T>A (p.Tyr927Asn) c.2506T>A (p.Tyr836Asn) c.2830T>A (p.Tyr944Asn) c.2740T>A (p.Tyr914Asn) c.2731T>A (p.Tyr911Asn) | |
3 | g.123284641G>A | CA435297666 | ADCY5 | c.2430C>T (p.Thr810=) c.2718C>T (p.Thr906=) n.2156C>T c.3828C>T (p.Thr1276=) c.3753C>T (p.Thr1251=) c.2703C>T (p.Thr901=) n.523C>T c.2727C>T (p.Thr909=) c.2778C>T (p.Thr926=) c.2505C>T (p.Thr835=) c.2829C>T (p.Thr943=) c.2739C>T (p.Thr913=) c.2730C>T (p.Thr910=) | |
3 | g.123284641G>C | CA435297667 | ADCY5 | c.2430C>G (p.Thr810=) c.2718C>G (p.Thr906=) n.2156C>G c.3828C>G (p.Thr1276=) c.3753C>G (p.Thr1251=) c.2703C>G (p.Thr901=) n.523C>G c.2727C>G (p.Thr909=) c.2778C>G (p.Thr926=) c.2505C>G (p.Thr835=) c.2829C>G (p.Thr943=) c.2739C>G (p.Thr913=) c.2730C>G (p.Thr910=) | |
3 | g.123284641G= | CA1398327454 | ADCY5 | c.2430C= (p.Thr810=) c.2718C= (p.Thr906=) n.2156C= c.3828C= (p.Thr1276=) c.3753C= (p.Thr1251=) c.2703C= (p.Thr901=) n.523C= c.2727C= (p.Thr909=) c.2778C= (p.Thr926=) c.2505C= (p.Thr835=) c.2829C= (p.Thr943=) c.2739C= (p.Thr913=) c.2730C= (p.Thr910=) | |
3 | g.123284641G>T | CA435297668 | ADCY5 | c.2430C>A (p.Thr810=) c.2718C>A (p.Thr906=) n.2156C>A c.3828C>A (p.Thr1276=) c.3753C>A (p.Thr1251=) c.2703C>A (p.Thr901=) n.523C>A c.2727C>A (p.Thr909=) c.2778C>A (p.Thr926=) c.2505C>A (p.Thr835=) c.2829C>A (p.Thr943=) c.2739C>A (p.Thr913=) c.2730C>A (p.Thr910=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123284642G>A | CA354221850 | ADCY5 | c.2429C>T (p.Thr810Ile) c.2717C>T (p.Thr906Ile) n.2155C>T c.3827C>T (p.Thr1276Ile) c.3752C>T (p.Thr1251Ile) c.2702C>T (p.Thr901Ile) n.522C>T c.2726C>T (p.Thr909Ile) c.2777C>T (p.Thr926Ile) c.2504C>T (p.Thr835Ile) c.2828C>T (p.Thr943Ile) c.2738C>T (p.Thr913Ile) c.2729C>T (p.Thr910Ile) | |
3 | g.123284642G>C | CA354221849 | ADCY5 | c.2429C>G (p.Thr810Ser) c.2717C>G (p.Thr906Ser) n.2155C>G c.3827C>G (p.Thr1276Ser) c.3752C>G (p.Thr1251Ser) c.2702C>G (p.Thr901Ser) n.522C>G c.2726C>G (p.Thr909Ser) c.2777C>G (p.Thr926Ser) c.2504C>G (p.Thr835Ser) c.2828C>G (p.Thr943Ser) c.2738C>G (p.Thr913Ser) c.2729C>G (p.Thr910Ser) | |
3 | g.123284642G>T | CA354221847 | ADCY5 | c.2429C>A (p.Thr810Asn) c.2717C>A (p.Thr906Asn) n.2155C>A c.3827C>A (p.Thr1276Asn) c.3752C>A (p.Thr1251Asn) c.2702C>A (p.Thr901Asn) n.522C>A c.2726C>A (p.Thr909Asn) c.2777C>A (p.Thr926Asn) c.2504C>A (p.Thr835Asn) c.2828C>A (p.Thr943Asn) c.2738C>A (p.Thr913Asn) c.2729C>A (p.Thr910Asn) | |
3 | g.123284643T>A | CA354221851 | ADCY5 | c.2428A>T (p.Thr810Ser) c.2716A>T (p.Thr906Ser) n.2154A>T c.3826A>T (p.Thr1276Ser) c.3751A>T (p.Thr1251Ser) c.2701A>T (p.Thr901Ser) n.521A>T c.2725A>T (p.Thr909Ser) c.2776A>T (p.Thr926Ser) c.2503A>T (p.Thr835Ser) c.2827A>T (p.Thr943Ser) c.2737A>T (p.Thr913Ser) c.2728A>T (p.Thr910Ser) | |
3 | g.123284643T>C | CA354221853 | ADCY5 | c.2428A>G (p.Thr810Ala) c.2716A>G (p.Thr906Ala) n.2154A>G c.3826A>G (p.Thr1276Ala) c.3751A>G (p.Thr1251Ala) c.2701A>G (p.Thr901Ala) n.521A>G c.2725A>G (p.Thr909Ala) c.2776A>G (p.Thr926Ala) c.2503A>G (p.Thr835Ala) c.2827A>G (p.Thr943Ala) c.2737A>G (p.Thr913Ala) c.2728A>G (p.Thr910Ala) | |
3 | g.123284643T>G | CA354221854 | ADCY5 | c.2428A>C (p.Thr810Pro) c.2716A>C (p.Thr906Pro) n.2154A>C c.3826A>C (p.Thr1276Pro) c.3751A>C (p.Thr1251Pro) c.2701A>C (p.Thr901Pro) n.521A>C c.2725A>C (p.Thr909Pro) c.2776A>C (p.Thr926Pro) c.2503A>C (p.Thr835Pro) c.2827A>C (p.Thr943Pro) c.2737A>C (p.Thr913Pro) c.2728A>C (p.Thr910Pro) | |
3 | g.123284648_123284650del | CA2667291966 | ADCY5 | c.2426_2428del (p.Met809del) c.2714_2716del (p.Met905del) n.2152_2154del c.3824_3826del (p.Met1275del) c.3749_3751del (p.Met1250del) c.2699_2701del (p.Met900del) n.519_521del c.2723_2725del (p.Met908del) c.2774_2776del (p.Met925del) c.2501_2503del (p.Met834del) c.2825_2827del (p.Met942del) c.2735_2737del (p.Met912del) c.2726_2728del (p.Met909del) | gnomAD v4 |
3 | g.123284644C>A | CA354221857 | ADCY5 | c.2427G>T (p.Met809Ile) c.2715G>T (p.Met905Ile) n.2153G>T c.3825G>T (p.Met1275Ile) c.3750G>T (p.Met1250Ile) c.2700G>T (p.Met900Ile) n.520G>T c.2724G>T (p.Met908Ile) c.2775G>T (p.Met925Ile) c.2502G>T (p.Met834Ile) c.2826G>T (p.Met942Ile) c.2736G>T (p.Met912Ile) c.2727G>T (p.Met909Ile) | COSMIC |
3 | g.123284644C= | CA1398327455 | ADCY5 | c.2427G= (p.Met809=) c.2715G= (p.Met905=) n.2153G= c.3825G= (p.Met1275=) c.3750G= (p.Met1250=) c.2700G= (p.Met900=) n.520G= c.2724G= (p.Met908=) c.2775G= (p.Met925=) c.2502G= (p.Met834=) c.2826G= (p.Met942=) c.2736G= (p.Met912=) c.2727G= (p.Met909=) | |
3 | g.123284644C>G | CA354221859 | ADCY5 | c.2427G>C (p.Met809Ile) c.2715G>C (p.Met905Ile) n.2153G>C c.3825G>C (p.Met1275Ile) c.3750G>C (p.Met1250Ile) c.2700G>C (p.Met900Ile) n.520G>C c.2724G>C (p.Met908Ile) c.2775G>C (p.Met925Ile) c.2502G>C (p.Met834Ile) c.2826G>C (p.Met942Ile) c.2736G>C (p.Met912Ile) c.2727G>C (p.Met909Ile) | |
3 | g.123284644C>T | CA354221861 | ADCY5 | c.2427G>A (p.Met809Ile) c.2715G>A (p.Met905Ile) n.2153G>A c.3825G>A (p.Met1275Ile) c.3750G>A (p.Met1250Ile) c.2700G>A (p.Met900Ile) n.520G>A c.2724G>A (p.Met908Ile) c.2775G>A (p.Met925Ile) c.2502G>A (p.Met834Ile) c.2826G>A (p.Met942Ile) c.2736G>A (p.Met912Ile) c.2727G>A (p.Met909Ile) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.123284645A= | CA1398327456 | ADCY5 | c.2426T= (p.Met809=) c.2714T= (p.Met905=) n.2152T= c.3824T= (p.Met1275=) c.3749T= (p.Met1250=) c.2699T= (p.Met900=) n.519T= c.2723T= (p.Met908=) c.2774T= (p.Met925=) c.2501T= (p.Met834=) c.2825T= (p.Met942=) c.2735T= (p.Met912=) c.2726T= (p.Met909=) | |
3 | g.123284645A>C | CA354221862 | ADCY5 | c.2426T>G (p.Met809Arg) c.2714T>G (p.Met905Arg) n.2152T>G c.3824T>G (p.Met1275Arg) c.3749T>G (p.Met1250Arg) c.2699T>G (p.Met900Arg) n.519T>G c.2723T>G (p.Met908Arg) c.2774T>G (p.Met925Arg) c.2501T>G (p.Met834Arg) c.2825T>G (p.Met942Arg) c.2735T>G (p.Met912Arg) c.2726T>G (p.Met909Arg) | |
3 | g.123284645A>G | CA2576690 | ADCY5 | c.2426T>C (p.Met809Thr) c.2714T>C (p.Met905Thr) n.2152T>C c.3824T>C (p.Met1275Thr) c.3749T>C (p.Met1250Thr) c.2699T>C (p.Met900Thr) n.519T>C c.2723T>C (p.Met908Thr) c.2774T>C (p.Met925Thr) c.2501T>C (p.Met834Thr) c.2825T>C (p.Met942Thr) c.2735T>C (p.Met912Thr) c.2726T>C (p.Met909Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123284645A>T | CA354221865 | ADCY5 | c.2426T>A (p.Met809Lys) c.2714T>A (p.Met905Lys) n.2152T>A c.3824T>A (p.Met1275Lys) c.3749T>A (p.Met1250Lys) c.2699T>A (p.Met900Lys) n.519T>A c.2723T>A (p.Met908Lys) c.2774T>A (p.Met925Lys) c.2501T>A (p.Met834Lys) c.2825T>A (p.Met942Lys) c.2735T>A (p.Met912Lys) c.2726T>A (p.Met909Lys) | |
3 | g.123284646T>A | CA354221867 | ADCY5 | c.2425A>T (p.Met809Leu) c.2713A>T (p.Met905Leu) n.2151A>T c.3823A>T (p.Met1275Leu) c.3748A>T (p.Met1250Leu) c.2698A>T (p.Met900Leu) n.518A>T c.2722A>T (p.Met908Leu) c.2773A>T (p.Met925Leu) c.2500A>T (p.Met834Leu) c.2824A>T (p.Met942Leu) c.2734A>T (p.Met912Leu) c.2725A>T (p.Met909Leu) | |
3 | g.123284646T>C | CA354221869 | ADCY5 | c.2425A>G (p.Met809Val) c.2713A>G (p.Met905Val) n.2151A>G c.3823A>G (p.Met1275Val) c.3748A>G (p.Met1250Val) c.2698A>G (p.Met900Val) n.518A>G c.2722A>G (p.Met908Val) c.2773A>G (p.Met925Val) c.2500A>G (p.Met834Val) c.2824A>G (p.Met942Val) c.2734A>G (p.Met912Val) c.2725A>G (p.Met909Val) | |
3 | g.123284646T>G | CA354221871 | ADCY5 | c.2425A>C (p.Met809Leu) c.2713A>C (p.Met905Leu) n.2151A>C c.3823A>C (p.Met1275Leu) c.3748A>C (p.Met1250Leu) c.2698A>C (p.Met900Leu) n.518A>C c.2722A>C (p.Met908Leu) c.2773A>C (p.Met925Leu) c.2500A>C (p.Met834Leu) c.2824A>C (p.Met942Leu) c.2734A>C (p.Met912Leu) c.2725A>C (p.Met909Leu) | ClinVar gnomAD v4 |
3 | g.123284647C>A | CA354221875 | ADCY5 | c.2424G>T (p.Met808Ile) c.2712G>T (p.Met904Ile) n.2150G>T c.3822G>T (p.Met1274Ile) c.3747G>T (p.Met1249Ile) c.2697G>T (p.Met899Ile) n.517G>T c.2721G>T (p.Met907Ile) c.2772G>T (p.Met924Ile) c.2499G>T (p.Met833Ile) c.2823G>T (p.Met941Ile) c.2733G>T (p.Met911Ile) c.2724G>T (p.Met908Ile) | |
3 | g.123284647C= | CA1398327457 | ADCY5 | c.2424G= (p.Met808=) c.2712G= (p.Met904=) n.2150G= c.3822G= (p.Met1274=) c.3747G= (p.Met1249=) c.2697G= (p.Met899=) n.517G= c.2721G= (p.Met907=) c.2772G= (p.Met924=) c.2499G= (p.Met833=) c.2823G= (p.Met941=) c.2733G= (p.Met911=) c.2724G= (p.Met908=) | |
3 | g.123284647C>G | CA354221877 | ADCY5 | c.2424G>C (p.Met808Ile) c.2712G>C (p.Met904Ile) n.2150G>C c.3822G>C (p.Met1274Ile) c.3747G>C (p.Met1249Ile) c.2697G>C (p.Met899Ile) n.517G>C c.2721G>C (p.Met907Ile) c.2772G>C (p.Met924Ile) c.2499G>C (p.Met833Ile) c.2823G>C (p.Met941Ile) c.2733G>C (p.Met911Ile) c.2724G>C (p.Met908Ile) | gnomAD v4 |
3 | g.123284647C>T | CA354221873 | ADCY5 | c.2424G>A (p.Met808Ile) c.2712G>A (p.Met904Ile) n.2150G>A c.3822G>A (p.Met1274Ile) c.3747G>A (p.Met1249Ile) c.2697G>A (p.Met899Ile) n.517G>A c.2721G>A (p.Met907Ile) c.2772G>A (p.Met924Ile) c.2499G>A (p.Met833Ile) c.2823G>A (p.Met941Ile) c.2733G>A (p.Met911Ile) c.2724G>A (p.Met908Ile) | dbSNP |
3 | g.123284648A>C | CA354221880 | ADCY5 | c.2423T>G (p.Met808Arg) c.2711T>G (p.Met904Arg) n.2149T>G c.3821T>G (p.Met1274Arg) c.3746T>G (p.Met1249Arg) c.2696T>G (p.Met899Arg) n.516T>G c.2720T>G (p.Met907Arg) c.2771T>G (p.Met924Arg) c.2498T>G (p.Met833Arg) c.2822T>G (p.Met941Arg) c.2732T>G (p.Met911Arg) c.2723T>G (p.Met908Arg) | |
3 | g.123284648A>G | CA354221881 | ADCY5 | c.2423T>C (p.Met808Thr) c.2711T>C (p.Met904Thr) n.2149T>C c.3821T>C (p.Met1274Thr) c.3746T>C (p.Met1249Thr) c.2696T>C (p.Met899Thr) n.516T>C c.2720T>C (p.Met907Thr) c.2771T>C (p.Met924Thr) c.2498T>C (p.Met833Thr) c.2822T>C (p.Met941Thr) c.2732T>C (p.Met911Thr) c.2723T>C (p.Met908Thr) | |
3 | g.123284648A>T | CA354221883 | ADCY5 | c.2423T>A (p.Met808Lys) c.2711T>A (p.Met904Lys) n.2149T>A c.3821T>A (p.Met1274Lys) c.3746T>A (p.Met1249Lys) c.2696T>A (p.Met899Lys) n.516T>A c.2720T>A (p.Met907Lys) c.2771T>A (p.Met924Lys) c.2498T>A (p.Met833Lys) c.2822T>A (p.Met941Lys) c.2732T>A (p.Met911Lys) c.2723T>A (p.Met908Lys) | |
3 | g.123284649T>A | CA354221886 | ADCY5 | c.2422A>T (p.Met808Leu) c.2710A>T (p.Met904Leu) n.2148A>T c.3820A>T (p.Met1274Leu) c.3745A>T (p.Met1249Leu) c.2695A>T (p.Met899Leu) n.515A>T c.2719A>T (p.Met907Leu) c.2770A>T (p.Met924Leu) c.2497A>T (p.Met833Leu) c.2821A>T (p.Met941Leu) c.2731A>T (p.Met911Leu) c.2722A>T (p.Met908Leu) | |
3 | g.123284649T>C | CA354221888 | ADCY5 | c.2422A>G (p.Met808Val) c.2710A>G (p.Met904Val) n.2148A>G c.3820A>G (p.Met1274Val) c.3745A>G (p.Met1249Val) c.2695A>G (p.Met899Val) n.515A>G c.2719A>G (p.Met907Val) c.2770A>G (p.Met924Val) c.2497A>G (p.Met833Val) c.2821A>G (p.Met941Val) c.2731A>G (p.Met911Val) c.2722A>G (p.Met908Val) | |
3 | g.123284649T>G | CA354221890 | ADCY5 | c.2422A>C (p.Met808Leu) c.2710A>C (p.Met904Leu) n.2148A>C c.3820A>C (p.Met1274Leu) c.3745A>C (p.Met1249Leu) c.2695A>C (p.Met899Leu) n.515A>C c.2719A>C (p.Met907Leu) c.2770A>C (p.Met924Leu) c.2497A>C (p.Met833Leu) c.2821A>C (p.Met941Leu) c.2731A>C (p.Met911Leu) c.2722A>C (p.Met908Leu) | |
3 | g.123284650C>A | CA354221892 | ADCY5 | c.2421G>T (p.Glu807Asp) c.2709G>T (p.Glu903Asp) n.2147G>T c.3819G>T (p.Glu1273Asp) c.3744G>T (p.Glu1248Asp) c.2694G>T (p.Glu898Asp) n.514G>T c.2718G>T (p.Glu906Asp) c.2769G>T (p.Glu923Asp) c.2496G>T (p.Glu832Asp) c.2820G>T (p.Glu940Asp) c.2730G>T (p.Glu910Asp) c.2721G>T (p.Glu907Asp) | |
3 | g.123284650C>G | CA354221895 | ADCY5 | c.2421G>C (p.Glu807Asp) c.2709G>C (p.Glu903Asp) n.2147G>C c.3819G>C (p.Glu1273Asp) c.3744G>C (p.Glu1248Asp) c.2694G>C (p.Glu898Asp) n.514G>C c.2718G>C (p.Glu906Asp) c.2769G>C (p.Glu923Asp) c.2496G>C (p.Glu832Asp) c.2820G>C (p.Glu940Asp) c.2730G>C (p.Glu910Asp) c.2721G>C (p.Glu907Asp) | |
3 | g.123284650C>T | CA435297670 | ADCY5 | c.2421G>A (p.Glu807=) c.2709G>A (p.Glu903=) n.2147G>A c.3819G>A (p.Glu1273=) c.3744G>A (p.Glu1248=) c.2694G>A (p.Glu898=) n.514G>A c.2718G>A (p.Glu906=) c.2769G>A (p.Glu923=) c.2496G>A (p.Glu832=) c.2820G>A (p.Glu940=) c.2730G>A (p.Glu910=) c.2721G>A (p.Glu907=) | |
3 | g.123284651T>A | CA354221897 | ADCY5 | c.2420A>T (p.Glu807Val) c.2708A>T (p.Glu903Val) n.2146A>T c.3818A>T (p.Glu1273Val) c.3743A>T (p.Glu1248Val) c.2693A>T (p.Glu898Val) n.513A>T c.2717A>T (p.Glu906Val) c.2768A>T (p.Glu923Val) c.2495A>T (p.Glu832Val) c.2819A>T (p.Glu940Val) c.2729A>T (p.Glu910Val) c.2720A>T (p.Glu907Val) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.123284651T>C | CA354221899 | ADCY5 | c.2420A>G (p.Glu807Gly) c.2708A>G (p.Glu903Gly) n.2146A>G c.3818A>G (p.Glu1273Gly) c.3743A>G (p.Glu1248Gly) c.2693A>G (p.Glu898Gly) n.513A>G c.2717A>G (p.Glu906Gly) c.2768A>G (p.Glu923Gly) c.2495A>G (p.Glu832Gly) c.2819A>G (p.Glu940Gly) c.2729A>G (p.Glu910Gly) c.2720A>G (p.Glu907Gly) | |
3 | g.123284651T>G | CA354221901 | ADCY5 | c.2420A>C (p.Glu807Ala) c.2708A>C (p.Glu903Ala) n.2146A>C c.3818A>C (p.Glu1273Ala) c.3743A>C (p.Glu1248Ala) c.2693A>C (p.Glu898Ala) n.513A>C c.2717A>C (p.Glu906Ala) c.2768A>C (p.Glu923Ala) c.2495A>C (p.Glu832Ala) c.2819A>C (p.Glu940Ala) c.2729A>C (p.Glu910Ala) c.2720A>C (p.Glu907Ala) | |
3 | g.123284651T= | CA1398327458 | ADCY5 | c.2420A= (p.Glu807=) c.2708A= (p.Glu903=) n.2146A= c.3818A= (p.Glu1273=) c.3743A= (p.Glu1248=) c.2693A= (p.Glu898=) n.513A= c.2717A= (p.Glu906=) c.2768A= (p.Glu923=) c.2495A= (p.Glu832=) c.2819A= (p.Glu940=) c.2729A= (p.Glu910=) c.2720A= (p.Glu907=) | |
3 | g.123284652C>A | CA354221904 | ADCY5 | c.2419G>T (p.Glu807Ter) c.2707G>T (p.Glu903Ter) n.2145G>T c.3817G>T (p.Glu1273Ter) c.3742G>T (p.Glu1248Ter) c.2692G>T (p.Glu898Ter) n.512G>T c.2716G>T (p.Glu906Ter) c.2767G>T (p.Glu923Ter) c.2494G>T (p.Glu832Ter) c.2818G>T (p.Glu940Ter) c.2728G>T (p.Glu910Ter) c.2719G>T (p.Glu907Ter) | |
3 | g.123284652C= | CA1398327459 | ADCY5 | c.2419G= (p.Glu807=) c.2707G= (p.Glu903=) n.2145G= c.3817G= (p.Glu1273=) c.3742G= (p.Glu1248=) c.2692G= (p.Glu898=) n.512G= c.2716G= (p.Glu906=) c.2767G= (p.Glu923=) c.2494G= (p.Glu832=) c.2818G= (p.Glu940=) c.2728G= (p.Glu910=) c.2719G= (p.Glu907=) | |
3 | g.123284652C>G | CA354221906 | ADCY5 | c.2419G>C (p.Glu807Gln) c.2707G>C (p.Glu903Gln) n.2145G>C c.3817G>C (p.Glu1273Gln) c.3742G>C (p.Glu1248Gln) c.2692G>C (p.Glu898Gln) n.512G>C c.2716G>C (p.Glu906Gln) c.2767G>C (p.Glu923Gln) c.2494G>C (p.Glu832Gln) c.2818G>C (p.Glu940Gln) c.2728G>C (p.Glu910Gln) c.2719G>C (p.Glu907Gln) | |
3 | g.123284652C>T | CA82899751 | ADCY5 | c.2419G>A (p.Glu807Lys) c.2707G>A (p.Glu903Lys) n.2145G>A c.3817G>A (p.Glu1273Lys) c.3742G>A (p.Glu1248Lys) c.2692G>A (p.Glu898Lys) n.512G>A c.2716G>A (p.Glu906Lys) c.2767G>A (p.Glu923Lys) c.2494G>A (p.Glu832Lys) c.2818G>A (p.Glu940Lys) c.2728G>A (p.Glu910Lys) c.2719G>A (p.Glu907Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.123284653G>A | CA82899756 | ADCY5 | c.2418C>T (p.Gly806=) c.2706C>T (p.Gly902=) n.2144C>T c.3816C>T (p.Gly1272=) c.3741C>T (p.Gly1247=) c.2691C>T (p.Gly897=) n.511C>T c.2715C>T (p.Gly905=) c.2766C>T (p.Gly922=) c.2493C>T (p.Gly831=) c.2817C>T (p.Gly939=) c.2727C>T (p.Gly909=) c.2718C>T (p.Gly906=) | dbSNP gnomAD v4 |
3 | g.123284653G>C | CA435297671 | ADCY5 | c.2418C>G (p.Gly806=) c.2706C>G (p.Gly902=) n.2144C>G c.3816C>G (p.Gly1272=) c.3741C>G (p.Gly1247=) c.2691C>G (p.Gly897=) n.511C>G c.2715C>G (p.Gly905=) c.2766C>G (p.Gly922=) c.2493C>G (p.Gly831=) c.2817C>G (p.Gly939=) c.2727C>G (p.Gly909=) c.2718C>G (p.Gly906=) | |
3 | g.123284653G= | CA1398327460 | ADCY5 | c.2418C= (p.Gly806=) c.2706C= (p.Gly902=) n.2144C= c.3816C= (p.Gly1272=) c.3741C= (p.Gly1247=) c.2691C= (p.Gly897=) n.511C= c.2715C= (p.Gly905=) c.2766C= (p.Gly922=) c.2493C= (p.Gly831=) c.2817C= (p.Gly939=) c.2727C= (p.Gly909=) c.2718C= (p.Gly906=) | |
3 | g.123284653G>T | CA2576691 | ADCY5 | c.2418C>A (p.Gly806=) c.2706C>A (p.Gly902=) n.2144C>A c.3816C>A (p.Gly1272=) c.3741C>A (p.Gly1247=) c.2691C>A (p.Gly897=) n.511C>A c.2715C>A (p.Gly905=) c.2766C>A (p.Gly922=) c.2493C>A (p.Gly831=) c.2817C>A (p.Gly939=) c.2727C>A (p.Gly909=) c.2718C>A (p.Gly906=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123284654C>A | CA354221915 | ADCY5 | c.2417G>T (p.Gly806Val) c.2705G>T (p.Gly902Val) n.2143G>T c.3815G>T (p.Gly1272Val) c.3740G>T (p.Gly1247Val) c.2690G>T (p.Gly897Val) n.510G>T c.2714G>T (p.Gly905Val) c.2765G>T (p.Gly922Val) c.2492G>T (p.Gly831Val) c.2816G>T (p.Gly939Val) c.2726G>T (p.Gly909Val) c.2717G>T (p.Gly906Val) | |
3 | g.123284654C>G | CA354221910 | ADCY5 | c.2417G>C (p.Gly806Ala) c.2705G>C (p.Gly902Ala) n.2143G>C c.3815G>C (p.Gly1272Ala) c.3740G>C (p.Gly1247Ala) c.2690G>C (p.Gly897Ala) n.510G>C c.2714G>C (p.Gly905Ala) c.2765G>C (p.Gly922Ala) c.2492G>C (p.Gly831Ala) c.2816G>C (p.Gly939Ala) c.2726G>C (p.Gly909Ala) c.2717G>C (p.Gly906Ala) | |
3 | g.123284654C>T | CA354221912 | ADCY5 | c.2417G>A (p.Gly806Asp) c.2705G>A (p.Gly902Asp) n.2143G>A c.3815G>A (p.Gly1272Asp) c.3740G>A (p.Gly1247Asp) c.2690G>A (p.Gly897Asp) n.510G>A c.2714G>A (p.Gly905Asp) c.2765G>A (p.Gly922Asp) c.2492G>A (p.Gly831Asp) c.2816G>A (p.Gly939Asp) c.2726G>A (p.Gly909Asp) c.2717G>A (p.Gly906Asp) | |
3 | g.123284655C>A | CA354221917 | ADCY5 | c.2416G>T (p.Gly806Cys) c.2704G>T (p.Gly902Cys) n.2142G>T c.3814G>T (p.Gly1272Cys) c.3739G>T (p.Gly1247Cys) c.2689G>T (p.Gly897Cys) n.509G>T c.2713G>T (p.Gly905Cys) c.2764G>T (p.Gly922Cys) c.2491G>T (p.Gly831Cys) c.2815G>T (p.Gly939Cys) c.2725G>T (p.Gly909Cys) c.2716G>T (p.Gly906Cys) | |
3 | g.123284655C>G | CA354221919 | ADCY5 | c.2416G>C (p.Gly806Arg) c.2704G>C (p.Gly902Arg) n.2142G>C c.3814G>C (p.Gly1272Arg) c.3739G>C (p.Gly1247Arg) c.2689G>C (p.Gly897Arg) n.509G>C c.2713G>C (p.Gly905Arg) c.2764G>C (p.Gly922Arg) c.2491G>C (p.Gly831Arg) c.2815G>C (p.Gly939Arg) c.2725G>C (p.Gly909Arg) c.2716G>C (p.Gly906Arg) | |
3 | g.123284655C>T | CA354221921 | ADCY5 | c.2416G>A (p.Gly806Ser) c.2704G>A (p.Gly902Ser) n.2142G>A c.3814G>A (p.Gly1272Ser) c.3739G>A (p.Gly1247Ser) c.2689G>A (p.Gly897Ser) n.509G>A c.2713G>A (p.Gly905Ser) c.2764G>A (p.Gly922Ser) c.2491G>A (p.Gly831Ser) c.2815G>A (p.Gly939Ser) c.2725G>A (p.Gly909Ser) c.2716G>A (p.Gly906Ser) | |
3 | g.123284656T>A | CA354221923 | ADCY5 | c.2415A>T (p.Lys805Asn) c.2703A>T (p.Lys901Asn) n.2141A>T c.3813A>T (p.Lys1271Asn) c.3738A>T (p.Lys1246Asn) c.2688A>T (p.Lys896Asn) n.508A>T c.2712A>T (p.Lys904Asn) c.2763A>T (p.Lys921Asn) c.2490A>T (p.Lys830Asn) c.2814A>T (p.Lys938Asn) c.2724A>T (p.Lys908Asn) c.2715A>T (p.Lys905Asn) | |
3 | g.123284656T>C | CA435297672 | ADCY5 | c.2415A>G (p.Lys805=) c.2703A>G (p.Lys901=) n.2141A>G c.3813A>G (p.Lys1271=) c.3738A>G (p.Lys1246=) c.2688A>G (p.Lys896=) n.508A>G c.2712A>G (p.Lys904=) c.2763A>G (p.Lys921=) c.2490A>G (p.Lys830=) c.2814A>G (p.Lys938=) c.2724A>G (p.Lys908=) c.2715A>G (p.Lys905=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123284656T>G | CA354221925 | ADCY5 | c.2415A>C (p.Lys805Asn) c.2703A>C (p.Lys901Asn) n.2141A>C c.3813A>C (p.Lys1271Asn) c.3738A>C (p.Lys1246Asn) c.2688A>C (p.Lys896Asn) n.508A>C c.2712A>C (p.Lys904Asn) c.2763A>C (p.Lys921Asn) c.2490A>C (p.Lys830Asn) c.2814A>C (p.Lys938Asn) c.2724A>C (p.Lys908Asn) c.2715A>C (p.Lys905Asn) | |
3 | g.123284656T= | CA1398327461 | ADCY5 | c.2415A= (p.Lys805=) c.2703A= (p.Lys901=) n.2141A= c.3813A= (p.Lys1271=) c.3738A= (p.Lys1246=) c.2688A= (p.Lys896=) n.508A= c.2712A= (p.Lys904=) c.2763A= (p.Lys921=) c.2490A= (p.Lys830=) c.2814A= (p.Lys938=) c.2724A= (p.Lys908=) c.2715A= (p.Lys905=) | |
3 | g.123284657T>A | CA354221927 | ADCY5 | c.2414A>T (p.Lys805Ile) c.2702A>T (p.Lys901Ile) n.2140A>T c.3812A>T (p.Lys1271Ile) c.3737A>T (p.Lys1246Ile) c.2687A>T (p.Lys896Ile) n.507A>T c.2711A>T (p.Lys904Ile) c.2762A>T (p.Lys921Ile) c.2489A>T (p.Lys830Ile) c.2813A>T (p.Lys938Ile) c.2723A>T (p.Lys908Ile) c.2714A>T (p.Lys905Ile) | |
3 | g.123284657T>C | CA354221929 | ADCY5 | c.2414A>G (p.Lys805Arg) c.2702A>G (p.Lys901Arg) n.2140A>G c.3812A>G (p.Lys1271Arg) c.3737A>G (p.Lys1246Arg) c.2687A>G (p.Lys896Arg) n.507A>G c.2711A>G (p.Lys904Arg) c.2762A>G (p.Lys921Arg) c.2489A>G (p.Lys830Arg) c.2813A>G (p.Lys938Arg) c.2723A>G (p.Lys908Arg) c.2714A>G (p.Lys905Arg) | |
3 | g.123284657T>G | CA354221931 | ADCY5 | c.2414A>C (p.Lys805Thr) c.2702A>C (p.Lys901Thr) n.2140A>C c.3812A>C (p.Lys1271Thr) c.3737A>C (p.Lys1246Thr) c.2687A>C (p.Lys896Thr) n.507A>C c.2711A>C (p.Lys904Thr) c.2762A>C (p.Lys921Thr) c.2489A>C (p.Lys830Thr) c.2813A>C (p.Lys938Thr) c.2723A>C (p.Lys908Thr) c.2714A>C (p.Lys905Thr) | |
3 | g.123284658T>A | CA354221933 | ADCY5 | c.2413A>T (p.Lys805Ter) c.2701A>T (p.Lys901Ter) n.2139A>T c.3811A>T (p.Lys1271Ter) c.3736A>T (p.Lys1246Ter) c.2686A>T (p.Lys896Ter) n.506A>T c.2710A>T (p.Lys904Ter) c.2761A>T (p.Lys921Ter) c.2488A>T (p.Lys830Ter) c.2812A>T (p.Lys938Ter) c.2722A>T (p.Lys908Ter) c.2713A>T (p.Lys905Ter) | dbSNP |
3 | g.123284658T>C | CA354221935 | ADCY5 | c.2413A>G (p.Lys805Glu) c.2701A>G (p.Lys901Glu) n.2139A>G c.3811A>G (p.Lys1271Glu) c.3736A>G (p.Lys1246Glu) c.2686A>G (p.Lys896Glu) n.506A>G c.2710A>G (p.Lys904Glu) c.2761A>G (p.Lys921Glu) c.2488A>G (p.Lys830Glu) c.2812A>G (p.Lys938Glu) c.2722A>G (p.Lys908Glu) c.2713A>G (p.Lys905Glu) | ClinVar dbSNP |
3 | g.123284658T>G | CA354221937 | ADCY5 | c.2413A>C (p.Lys805Gln) c.2701A>C (p.Lys901Gln) n.2139A>C c.3811A>C (p.Lys1271Gln) c.3736A>C (p.Lys1246Gln) c.2686A>C (p.Lys896Gln) n.506A>C c.2710A>C (p.Lys904Gln) c.2761A>C (p.Lys921Gln) c.2488A>C (p.Lys830Gln) c.2812A>C (p.Lys938Gln) c.2722A>C (p.Lys908Gln) c.2713A>C (p.Lys905Gln) | |
3 | g.123284658T= | CA1398327462 | ADCY5 | c.2413A= (p.Lys805=) c.2701A= (p.Lys901=) n.2139A= c.3811A= (p.Lys1271=) c.3736A= (p.Lys1246=) c.2686A= (p.Lys896=) n.506A= c.2710A= (p.Lys904=) c.2761A= (p.Lys921=) c.2488A= (p.Lys830=) c.2812A= (p.Lys938=) c.2722A= (p.Lys908=) c.2713A= (p.Lys905=) | |
3 | g.123284659G>A | CA82899766 | ADCY5 | c.2412C>T (p.Gly804=) c.2700C>T (p.Gly900=) n.2138C>T c.3810C>T (p.Gly1270=) c.3735C>T (p.Gly1245=) c.2685C>T (p.Gly895=) n.505C>T c.2709C>T (p.Gly903=) c.2760C>T (p.Gly920=) c.2487C>T (p.Gly829=) c.2811C>T (p.Gly937=) c.2721C>T (p.Gly907=) c.2712C>T (p.Gly904=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123284659G>C | CA435297673 | ADCY5 | c.2412C>G (p.Gly804=) c.2700C>G (p.Gly900=) n.2138C>G c.3810C>G (p.Gly1270=) c.3735C>G (p.Gly1245=) c.2685C>G (p.Gly895=) n.505C>G c.2709C>G (p.Gly903=) c.2760C>G (p.Gly920=) c.2487C>G (p.Gly829=) c.2811C>G (p.Gly937=) c.2721C>G (p.Gly907=) c.2712C>G (p.Gly904=) | |
3 | g.123284659G= | CA1398327463 | ADCY5 | c.2412C= (p.Gly804=) c.2700C= (p.Gly900=) n.2138C= c.3810C= (p.Gly1270=) c.3735C= (p.Gly1245=) c.2685C= (p.Gly895=) n.505C= c.2709C= (p.Gly903=) c.2760C= (p.Gly920=) c.2487C= (p.Gly829=) c.2811C= (p.Gly937=) c.2721C= (p.Gly907=) c.2712C= (p.Gly904=) | |
3 | g.123284659G>T | CA435297674 | ADCY5 | c.2412C>A (p.Gly804=) c.2700C>A (p.Gly900=) n.2138C>A c.3810C>A (p.Gly1270=) c.3735C>A (p.Gly1245=) c.2685C>A (p.Gly895=) n.505C>A c.2709C>A (p.Gly903=) c.2760C>A (p.Gly920=) c.2487C>A (p.Gly829=) c.2811C>A (p.Gly937=) c.2721C>A (p.Gly907=) c.2712C>A (p.Gly904=) | gnomAD v4 |
3 | g.123284660C>A | CA354221946 | ADCY5 | c.2411G>T (p.Gly804Val) c.2699G>T (p.Gly900Val) n.2137G>T c.3809G>T (p.Gly1270Val) c.3734G>T (p.Gly1245Val) c.2684G>T (p.Gly895Val) n.504G>T c.2708G>T (p.Gly903Val) c.2759G>T (p.Gly920Val) c.2486G>T (p.Gly829Val) c.2810G>T (p.Gly937Val) c.2720G>T (p.Gly907Val) c.2711G>T (p.Gly904Val) | |
3 | g.123284660C>G | CA354221944 | ADCY5 | c.2411G>C (p.Gly804Ala) c.2699G>C (p.Gly900Ala) n.2137G>C c.3809G>C (p.Gly1270Ala) c.3734G>C (p.Gly1245Ala) c.2684G>C (p.Gly895Ala) n.504G>C c.2708G>C (p.Gly903Ala) c.2759G>C (p.Gly920Ala) c.2486G>C (p.Gly829Ala) c.2810G>C (p.Gly937Ala) c.2720G>C (p.Gly907Ala) c.2711G>C (p.Gly904Ala) | |
3 | g.123284660C>T | CA354221941 | ADCY5 | c.2411G>A (p.Gly804Asp) c.2699G>A (p.Gly900Asp) n.2137G>A c.3809G>A (p.Gly1270Asp) c.3734G>A (p.Gly1245Asp) c.2684G>A (p.Gly895Asp) n.504G>A c.2708G>A (p.Gly903Asp) c.2759G>A (p.Gly920Asp) c.2486G>A (p.Gly829Asp) c.2810G>A (p.Gly937Asp) c.2720G>A (p.Gly907Asp) c.2711G>A (p.Gly904Asp) | |
3 | g.123284660_123284666delinsCCCTTGA | CA1398327464 | ADCY5 | c.2405_2411delinsTCAAGGG (p.Val802=) c.2693_2699delinsTCAAGGG (p.Val898=) n.2131_2137delinsTCAAGGG c.3803_3809delinsTCAAGGG (p.Val1268=) c.3728_3734delinsTCAAGGG (p.Val1243=) c.2678_2684delinsTCAAGGG (p.Val893=) n.498_504delinsTCAAGGG c.2702_2708delinsTCAAGGG (p.Val901=) c.2753_2759delinsTCAAGGG (p.Val918=) c.2480_2486delinsTCAAGGG (p.Val827=) c.2804_2810delinsTCAAGGG (p.Val935=) c.2714_2720delinsTCAAGGG (p.Val905=) c.2705_2711delinsTCAAGGG (p.Val902=) | |
3 | g.123284661C>A | CA354221948 | ADCY5 | c.2410G>T (p.Gly804Cys) c.2698G>T (p.Gly900Cys) n.2136G>T c.3808G>T (p.Gly1270Cys) c.3733G>T (p.Gly1245Cys) c.2683G>T (p.Gly895Cys) n.503G>T c.2707G>T (p.Gly903Cys) c.2758G>T (p.Gly920Cys) c.2485G>T (p.Gly829Cys) c.2809G>T (p.Gly937Cys) c.2719G>T (p.Gly907Cys) c.2710G>T (p.Gly904Cys) | |
3 | g.123284661C>G | CA354221950 | ADCY5 | c.2410G>C (p.Gly804Arg) c.2698G>C (p.Gly900Arg) n.2136G>C c.3808G>C (p.Gly1270Arg) c.3733G>C (p.Gly1245Arg) c.2683G>C (p.Gly895Arg) n.503G>C c.2707G>C (p.Gly903Arg) c.2758G>C (p.Gly920Arg) c.2485G>C (p.Gly829Arg) c.2809G>C (p.Gly937Arg) c.2719G>C (p.Gly907Arg) c.2710G>C (p.Gly904Arg) | |
3 | g.123284661C>T | CA354221952 | ADCY5 | c.2410G>A (p.Gly804Ser) c.2698G>A (p.Gly900Ser) n.2136G>A c.3808G>A (p.Gly1270Ser) c.3733G>A (p.Gly1245Ser) c.2683G>A (p.Gly895Ser) n.503G>A c.2707G>A (p.Gly903Ser) c.2758G>A (p.Gly920Ser) c.2485G>A (p.Gly829Ser) c.2809G>A (p.Gly937Ser) c.2719G>A (p.Gly907Ser) c.2710G>A (p.Gly904Ser) | |
3 | g.123284669_123284674del | CA545690191 | ADCY5 | c.2405_2410del (p.Val802_Lys803del) c.2693_2698del (p.Val898_Lys899del) n.2131_2136del c.3803_3808del (p.Val1268_Lys1269del) c.3728_3733del (p.Val1243_Lys1244del) c.2678_2683del (p.Val893_Lys894del) n.498_503del c.2702_2707del (p.Val901_Lys902del) c.2753_2758del (p.Val918_Lys919del) c.2480_2485del (p.Val827_Lys828del) c.2804_2809del (p.Val935_Lys936del) c.2714_2719del (p.Val905_Lys906del) c.2705_2710del (p.Val902_Lys903del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123284662C>A | CA354221954 | ADCY5 | c.2409G>T (p.Lys803Asn) c.2697G>T (p.Lys899Asn) n.2135G>T c.3807G>T (p.Lys1269Asn) c.3732G>T (p.Lys1244Asn) c.2682G>T (p.Lys894Asn) n.502G>T c.2706G>T (p.Lys902Asn) c.2757G>T (p.Lys919Asn) c.2484G>T (p.Lys828Asn) c.2808G>T (p.Lys936Asn) c.2718G>T (p.Lys906Asn) c.2709G>T (p.Lys903Asn) | |
3 | g.123284662C= | CA1398327465 | ADCY5 | c.2409G= (p.Lys803=) c.2697G= (p.Lys899=) n.2135G= c.3807G= (p.Lys1269=) c.3732G= (p.Lys1244=) c.2682G= (p.Lys894=) n.502G= c.2706G= (p.Lys902=) c.2757G= (p.Lys919=) c.2484G= (p.Lys828=) c.2808G= (p.Lys936=) c.2718G= (p.Lys906=) c.2709G= (p.Lys903=) | |
3 | g.123284662C>G | CA354221956 | ADCY5 | c.2409G>C (p.Lys803Asn) c.2697G>C (p.Lys899Asn) n.2135G>C c.3807G>C (p.Lys1269Asn) c.3732G>C (p.Lys1244Asn) c.2682G>C (p.Lys894Asn) n.502G>C c.2706G>C (p.Lys902Asn) c.2757G>C (p.Lys919Asn) c.2484G>C (p.Lys828Asn) c.2808G>C (p.Lys936Asn) c.2718G>C (p.Lys906Asn) c.2709G>C (p.Lys903Asn) | |
3 | g.123284662C>T | CA435297675 | ADCY5 | c.2409G>A (p.Lys803=) c.2697G>A (p.Lys899=) n.2135G>A c.3807G>A (p.Lys1269=) c.3732G>A (p.Lys1244=) c.2682G>A (p.Lys894=) n.502G>A c.2706G>A (p.Lys902=) c.2757G>A (p.Lys919=) c.2484G>A (p.Lys828=) c.2808G>A (p.Lys936=) c.2718G>A (p.Lys906=) c.2709G>A (p.Lys903=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.123284663T>A | CA354221958 | ADCY5 | c.2408A>T (p.Lys803Met) c.2696A>T (p.Lys899Met) n.2134A>T c.3806A>T (p.Lys1269Met) c.3731A>T (p.Lys1244Met) c.2681A>T (p.Lys894Met) n.501A>T c.2705A>T (p.Lys902Met) c.2756A>T (p.Lys919Met) c.2483A>T (p.Lys828Met) c.2807A>T (p.Lys936Met) c.2717A>T (p.Lys906Met) c.2708A>T (p.Lys903Met) | |
3 | g.123284663T>C | CA354221960 | ADCY5 | c.2408A>G (p.Lys803Arg) c.2696A>G (p.Lys899Arg) n.2134A>G c.3806A>G (p.Lys1269Arg) c.3731A>G (p.Lys1244Arg) c.2681A>G (p.Lys894Arg) n.501A>G c.2705A>G (p.Lys902Arg) c.2756A>G (p.Lys919Arg) c.2483A>G (p.Lys828Arg) c.2807A>G (p.Lys936Arg) c.2717A>G (p.Lys906Arg) c.2708A>G (p.Lys903Arg) | |
3 | g.123284663T>G | CA354221962 | ADCY5 | c.2408A>C (p.Lys803Thr) c.2696A>C (p.Lys899Thr) n.2134A>C c.3806A>C (p.Lys1269Thr) c.3731A>C (p.Lys1244Thr) c.2681A>C (p.Lys894Thr) n.501A>C c.2705A>C (p.Lys902Thr) c.2756A>C (p.Lys919Thr) c.2483A>C (p.Lys828Thr) c.2807A>C (p.Lys936Thr) c.2717A>C (p.Lys906Thr) c.2708A>C (p.Lys903Thr) | |
3 | g.123284664T>A | CA354221964 | ADCY5 | c.2407A>T (p.Lys803Ter) c.2695A>T (p.Lys899Ter) n.2133A>T c.3805A>T (p.Lys1269Ter) c.3730A>T (p.Lys1244Ter) c.2680A>T (p.Lys894Ter) n.500A>T c.2704A>T (p.Lys902Ter) c.2755A>T (p.Lys919Ter) c.2482A>T (p.Lys828Ter) c.2806A>T (p.Lys936Ter) c.2716A>T (p.Lys906Ter) c.2707A>T (p.Lys903Ter) | dbSNP |
3 | g.123284664T>C | CA354221966 | ADCY5 | c.2407A>G (p.Lys803Glu) c.2695A>G (p.Lys899Glu) n.2133A>G c.3805A>G (p.Lys1269Glu) c.3730A>G (p.Lys1244Glu) c.2680A>G (p.Lys894Glu) n.500A>G c.2704A>G (p.Lys902Glu) c.2755A>G (p.Lys919Glu) c.2482A>G (p.Lys828Glu) c.2806A>G (p.Lys936Glu) c.2716A>G (p.Lys906Glu) c.2707A>G (p.Lys903Glu) | |
3 | g.123284664T>G | CA354221968 | ADCY5 | c.2407A>C (p.Lys803Gln) c.2695A>C (p.Lys899Gln) n.2133A>C c.3805A>C (p.Lys1269Gln) c.3730A>C (p.Lys1244Gln) c.2680A>C (p.Lys894Gln) n.500A>C c.2704A>C (p.Lys902Gln) c.2755A>C (p.Lys919Gln) c.2482A>C (p.Lys828Gln) c.2806A>C (p.Lys936Gln) c.2716A>C (p.Lys906Gln) c.2707A>C (p.Lys903Gln) | |
3 | g.123284664T= | CA1398327466 | ADCY5 | c.2407A= (p.Lys803=) c.2695A= (p.Lys899=) n.2133A= c.3805A= (p.Lys1269=) c.3730A= (p.Lys1244=) c.2680A= (p.Lys894=) n.500A= c.2704A= (p.Lys902=) c.2755A= (p.Lys919=) c.2482A= (p.Lys828=) c.2806A= (p.Lys936=) c.2716A= (p.Lys906=) c.2707A= (p.Lys903=) | |
3 | g.123284665G>A | CA435297676 | ADCY5 | c.2406C>T (p.Val802=) c.2694C>T (p.Val898=) n.2132C>T c.3804C>T (p.Val1268=) c.3729C>T (p.Val1243=) c.2679C>T (p.Val893=) n.499C>T c.2703C>T (p.Val901=) c.2754C>T (p.Val918=) c.2481C>T (p.Val827=) c.2805C>T (p.Val935=) c.2715C>T (p.Val905=) c.2706C>T (p.Val902=) | dbSNP |
3 | g.123284665G>C | CA435297677 | ADCY5 | c.2406C>G (p.Val802=) c.2694C>G (p.Val898=) n.2132C>G c.3804C>G (p.Val1268=) c.3729C>G (p.Val1243=) c.2679C>G (p.Val893=) n.499C>G c.2703C>G (p.Val901=) c.2754C>G (p.Val918=) c.2481C>G (p.Val827=) c.2805C>G (p.Val935=) c.2715C>G (p.Val905=) c.2706C>G (p.Val902=) | |
3 | g.123284665G= | CA1398327467 | ADCY5 | c.2406C= (p.Val802=) c.2694C= (p.Val898=) n.2132C= c.3804C= (p.Val1268=) c.3729C= (p.Val1243=) c.2679C= (p.Val893=) n.499C= c.2703C= (p.Val901=) c.2754C= (p.Val918=) c.2481C= (p.Val827=) c.2805C= (p.Val935=) c.2715C= (p.Val905=) c.2706C= (p.Val902=) | |
3 | g.123284665G>T | CA435297678 | ADCY5 | c.2406C>A (p.Val802=) c.2694C>A (p.Val898=) n.2132C>A c.3804C>A (p.Val1268=) c.3729C>A (p.Val1243=) c.2679C>A (p.Val893=) n.499C>A c.2703C>A (p.Val901=) c.2754C>A (p.Val918=) c.2481C>A (p.Val827=) c.2805C>A (p.Val935=) c.2715C>A (p.Val905=) c.2706C>A (p.Val902=) | gnomAD v4 |
3 | g.123284666A>C | CA354221970 | ADCY5 | c.2405T>G (p.Val802Gly) c.2693T>G (p.Val898Gly) n.2131T>G c.3803T>G (p.Val1268Gly) c.3728T>G (p.Val1243Gly) c.2678T>G (p.Val893Gly) n.498T>G c.2702T>G (p.Val901Gly) c.2753T>G (p.Val918Gly) c.2480T>G (p.Val827Gly) c.2804T>G (p.Val935Gly) c.2714T>G (p.Val905Gly) c.2705T>G (p.Val902Gly) | |
3 | g.123284666A>G | CA354221972 | ADCY5 | c.2405T>C (p.Val802Ala) c.2693T>C (p.Val898Ala) n.2131T>C c.3803T>C (p.Val1268Ala) c.3728T>C (p.Val1243Ala) c.2678T>C (p.Val893Ala) n.498T>C c.2702T>C (p.Val901Ala) c.2753T>C (p.Val918Ala) c.2480T>C (p.Val827Ala) c.2804T>C (p.Val935Ala) c.2714T>C (p.Val905Ala) c.2705T>C (p.Val902Ala) | |
3 | g.123284666A>T | CA354221974 | ADCY5 | c.2405T>A (p.Val802Asp) c.2693T>A (p.Val898Asp) n.2131T>A c.3803T>A (p.Val1268Asp) c.3728T>A (p.Val1243Asp) c.2678T>A (p.Val893Asp) n.498T>A c.2702T>A (p.Val901Asp) c.2753T>A (p.Val918Asp) c.2480T>A (p.Val827Asp) c.2804T>A (p.Val935Asp) c.2714T>A (p.Val905Asp) c.2705T>A (p.Val902Asp) | |
3 | g.123284667C>A | CA354221978 | ADCY5 | c.2404G>T (p.Val802Phe) c.2692G>T (p.Val898Phe) n.2130G>T c.3802G>T (p.Val1268Phe) c.3727G>T (p.Val1243Phe) c.2677G>T (p.Val893Phe) n.497G>T c.2701G>T (p.Val901Phe) c.2752G>T (p.Val918Phe) c.2479G>T (p.Val827Phe) c.2803G>T (p.Val935Phe) c.2713G>T (p.Val905Phe) c.2704G>T (p.Val902Phe) | |
3 | g.123284667C>G | CA354221981 | ADCY5 | c.2404G>C (p.Val802Leu) c.2692G>C (p.Val898Leu) n.2130G>C c.3802G>C (p.Val1268Leu) c.3727G>C (p.Val1243Leu) c.2677G>C (p.Val893Leu) n.497G>C c.2701G>C (p.Val901Leu) c.2752G>C (p.Val918Leu) c.2479G>C (p.Val827Leu) c.2803G>C (p.Val935Leu) c.2713G>C (p.Val905Leu) c.2704G>C (p.Val902Leu) | |
3 | g.123284667C>T | CA354221976 | ADCY5 | c.2404G>A (p.Val802Ile) c.2692G>A (p.Val898Ile) n.2130G>A c.3802G>A (p.Val1268Ile) c.3727G>A (p.Val1243Ile) c.2677G>A (p.Val893Ile) n.497G>A c.2701G>A (p.Val901Ile) c.2752G>A (p.Val918Ile) c.2479G>A (p.Val827Ile) c.2803G>A (p.Val935Ile) c.2713G>A (p.Val905Ile) c.2704G>A (p.Val902Ile) | |
3 | g.123284668C>A | CA354221983 | ADCY5 | c.2403G>T (p.Lys801Asn) c.2691G>T (p.Lys897Asn) n.2129G>T c.3801G>T (p.Lys1267Asn) c.3726G>T (p.Lys1242Asn) c.2676G>T (p.Lys892Asn) n.496G>T c.2700G>T (p.Lys900Asn) c.2751G>T (p.Lys917Asn) c.2478G>T (p.Lys826Asn) c.2802G>T (p.Lys934Asn) c.2712G>T (p.Lys904Asn) c.2703G>T (p.Lys901Asn) | |
3 | g.123284668C>G | CA354221985 | ADCY5 | c.2403G>C (p.Lys801Asn) c.2691G>C (p.Lys897Asn) n.2129G>C c.3801G>C (p.Lys1267Asn) c.3726G>C (p.Lys1242Asn) c.2676G>C (p.Lys892Asn) n.496G>C c.2700G>C (p.Lys900Asn) c.2751G>C (p.Lys917Asn) c.2478G>C (p.Lys826Asn) c.2802G>C (p.Lys934Asn) c.2712G>C (p.Lys904Asn) c.2703G>C (p.Lys901Asn) | |
3 | g.123284668C>T | CA435297679 | ADCY5 | c.2403G>A (p.Lys801=) c.2691G>A (p.Lys897=) n.2129G>A c.3801G>A (p.Lys1267=) c.3726G>A (p.Lys1242=) c.2676G>A (p.Lys892=) n.496G>A c.2700G>A (p.Lys900=) c.2751G>A (p.Lys917=) c.2478G>A (p.Lys826=) c.2802G>A (p.Lys934=) c.2712G>A (p.Lys904=) c.2703G>A (p.Lys901=) | gnomAD v4 |
3 | g.123284669T>A | CA2576692 | ADCY5 | c.2402A>T (p.Lys801Met) c.2690A>T (p.Lys897Met) n.2128A>T c.3800A>T (p.Lys1267Met) c.3725A>T (p.Lys1242Met) c.2675A>T (p.Lys892Met) n.495A>T c.2699A>T (p.Lys900Met) c.2750A>T (p.Lys917Met) c.2477A>T (p.Lys826Met) c.2801A>T (p.Lys934Met) c.2711A>T (p.Lys904Met) c.2702A>T (p.Lys901Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123284669T>C | CA354221988 | ADCY5 | c.2402A>G (p.Lys801Arg) c.2690A>G (p.Lys897Arg) n.2128A>G c.3800A>G (p.Lys1267Arg) c.3725A>G (p.Lys1242Arg) c.2675A>G (p.Lys892Arg) n.495A>G c.2699A>G (p.Lys900Arg) c.2750A>G (p.Lys917Arg) c.2477A>G (p.Lys826Arg) c.2801A>G (p.Lys934Arg) c.2711A>G (p.Lys904Arg) c.2702A>G (p.Lys901Arg) | dbSNP gnomAD v4 |
3 | g.123284669T>G | CA354221990 | ADCY5 | c.2402A>C (p.Lys801Thr) c.2690A>C (p.Lys897Thr) n.2128A>C c.3800A>C (p.Lys1267Thr) c.3725A>C (p.Lys1242Thr) c.2675A>C (p.Lys892Thr) n.495A>C c.2699A>C (p.Lys900Thr) c.2750A>C (p.Lys917Thr) c.2477A>C (p.Lys826Thr) c.2801A>C (p.Lys934Thr) c.2711A>C (p.Lys904Thr) c.2702A>C (p.Lys901Thr) | |
3 | g.123284669T= | CA1398327468 | ADCY5 | c.2402A= (p.Lys801=) c.2690A= (p.Lys897=) n.2128A= c.3800A= (p.Lys1267=) c.3725A= (p.Lys1242=) c.2675A= (p.Lys892=) n.495A= c.2699A= (p.Lys900=) c.2750A= (p.Lys917=) c.2477A= (p.Lys826=) c.2801A= (p.Lys934=) c.2711A= (p.Lys904=) c.2702A= (p.Lys901=) | |
3 | g.123284670T>A | CA354221995 | ADCY5 | c.2401A>T (p.Lys801Ter) c.2689A>T (p.Lys897Ter) n.2127A>T c.3799A>T (p.Lys1267Ter) c.3724A>T (p.Lys1242Ter) c.2674A>T (p.Lys892Ter) n.494A>T c.2698A>T (p.Lys900Ter) c.2749A>T (p.Lys917Ter) c.2476A>T (p.Lys826Ter) c.2800A>T (p.Lys934Ter) c.2710A>T (p.Lys904Ter) c.2701A>T (p.Lys901Ter) | |
3 | g.123284670T>C | CA2576693 | ADCY5 | c.2401A>G (p.Lys801Glu) c.2689A>G (p.Lys897Glu) n.2127A>G c.3799A>G (p.Lys1267Glu) c.3724A>G (p.Lys1242Glu) c.2674A>G (p.Lys892Glu) n.494A>G c.2698A>G (p.Lys900Glu) c.2749A>G (p.Lys917Glu) c.2476A>G (p.Lys826Glu) c.2800A>G (p.Lys934Glu) c.2710A>G (p.Lys904Glu) c.2701A>G (p.Lys901Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123284670T>G | CA354221992 | ADCY5 | c.2401A>C (p.Lys801Gln) c.2689A>C (p.Lys897Gln) n.2127A>C c.3799A>C (p.Lys1267Gln) c.3724A>C (p.Lys1242Gln) c.2674A>C (p.Lys892Gln) n.494A>C c.2698A>C (p.Lys900Gln) c.2749A>C (p.Lys917Gln) c.2476A>C (p.Lys826Gln) c.2800A>C (p.Lys934Gln) c.2710A>C (p.Lys904Gln) c.2701A>C (p.Lys901Gln) | |
3 | g.123284670T= | CA1398327469 | ADCY5 | c.2401A= (p.Lys801=) c.2689A= (p.Lys897=) n.2127A= c.3799A= (p.Lys1267=) c.3724A= (p.Lys1242=) c.2674A= (p.Lys892=) n.494A= c.2698A= (p.Lys900=) c.2749A= (p.Lys917=) c.2476A= (p.Lys826=) c.2800A= (p.Lys934=) c.2710A= (p.Lys904=) c.2701A= (p.Lys901=) | |
3 | g.123284671G>A | CA435297680 | ADCY5 | c.2400C>T (p.Val800=) c.2688C>T (p.Val896=) n.2126C>T c.3798C>T (p.Val1266=) c.3723C>T (p.Val1241=) c.2673C>T (p.Val891=) n.493C>T c.2697C>T (p.Val899=) c.2748C>T (p.Val916=) c.2475C>T (p.Val825=) c.2799C>T (p.Val933=) c.2709C>T (p.Val903=) c.2700C>T (p.Val900=) | |
3 | g.123284671G>C | CA435297681 | ADCY5 | c.2400C>G (p.Val800=) c.2688C>G (p.Val896=) n.2126C>G c.3798C>G (p.Val1266=) c.3723C>G (p.Val1241=) c.2673C>G (p.Val891=) n.493C>G c.2697C>G (p.Val899=) c.2748C>G (p.Val916=) c.2475C>G (p.Val825=) c.2799C>G (p.Val933=) c.2709C>G (p.Val903=) c.2700C>G (p.Val900=) | |
3 | g.123284671G>T | CA435297682 | ADCY5 | c.2400C>A (p.Val800=) c.2688C>A (p.Val896=) n.2126C>A c.3798C>A (p.Val1266=) c.3723C>A (p.Val1241=) c.2673C>A (p.Val891=) n.493C>A c.2697C>A (p.Val899=) c.2748C>A (p.Val916=) c.2475C>A (p.Val825=) c.2799C>A (p.Val933=) c.2709C>A (p.Val903=) c.2700C>A (p.Val900=) | |
3 | g.123284672A>C | CA354221997 | ADCY5 | c.2399T>G (p.Val800Gly) c.2687T>G (p.Val896Gly) n.2125T>G c.3797T>G (p.Val1266Gly) c.3722T>G (p.Val1241Gly) c.2672T>G (p.Val891Gly) n.492T>G c.2696T>G (p.Val899Gly) c.2747T>G (p.Val916Gly) c.2474T>G (p.Val825Gly) c.2798T>G (p.Val933Gly) c.2708T>G (p.Val903Gly) c.2699T>G (p.Val900Gly) | |
3 | g.123284672A>G | CA354222000 | ADCY5 | c.2399T>C (p.Val800Ala) c.2687T>C (p.Val896Ala) n.2125T>C c.3797T>C (p.Val1266Ala) c.3722T>C (p.Val1241Ala) c.2672T>C (p.Val891Ala) n.492T>C c.2696T>C (p.Val899Ala) c.2747T>C (p.Val916Ala) c.2474T>C (p.Val825Ala) c.2798T>C (p.Val933Ala) c.2708T>C (p.Val903Ala) c.2699T>C (p.Val900Ala) | |
3 | g.123284672A>T | CA354222002 | ADCY5 | c.2399T>A (p.Val800Asp) c.2687T>A (p.Val896Asp) n.2125T>A c.3797T>A (p.Val1266Asp) c.3722T>A (p.Val1241Asp) c.2672T>A (p.Val891Asp) n.492T>A c.2696T>A (p.Val899Asp) c.2747T>A (p.Val916Asp) c.2474T>A (p.Val825Asp) c.2798T>A (p.Val933Asp) c.2708T>A (p.Val903Asp) c.2699T>A (p.Val900Asp) | |
3 | g.123284673C>A | CA354222004 | ADCY5 | c.2398G>T (p.Val800Phe) c.2686G>T (p.Val896Phe) n.2124G>T c.3796G>T (p.Val1266Phe) c.3721G>T (p.Val1241Phe) c.2671G>T (p.Val891Phe) n.491G>T c.2695G>T (p.Val899Phe) c.2746G>T (p.Val916Phe) c.2473G>T (p.Val825Phe) c.2797G>T (p.Val933Phe) c.2707G>T (p.Val903Phe) c.2698G>T (p.Val900Phe) | |
3 | g.123284673C>G | CA354222006 | ADCY5 | c.2398G>C (p.Val800Leu) c.2686G>C (p.Val896Leu) n.2124G>C c.3796G>C (p.Val1266Leu) c.3721G>C (p.Val1241Leu) c.2671G>C (p.Val891Leu) n.491G>C c.2695G>C (p.Val899Leu) c.2746G>C (p.Val916Leu) c.2473G>C (p.Val825Leu) c.2797G>C (p.Val933Leu) c.2707G>C (p.Val903Leu) c.2698G>C (p.Val900Leu) | |
3 | g.123284673C>T | CA354222008 | ADCY5 | c.2398G>A (p.Val800Ile) c.2686G>A (p.Val896Ile) n.2124G>A c.3796G>A (p.Val1266Ile) c.3721G>A (p.Val1241Ile) c.2671G>A (p.Val891Ile) n.491G>A c.2695G>A (p.Val899Ile) c.2746G>A (p.Val916Ile) c.2473G>A (p.Val825Ile) c.2797G>A (p.Val933Ile) c.2707G>A (p.Val903Ile) c.2698G>A (p.Val900Ile) | gnomAD v4 |
3 | g.123284674C>A | CA435297685 | ADCY5 | c.2397G>T (p.Val799=) c.2685G>T (p.Val895=) n.2123G>T c.3795G>T (p.Val1265=) c.3720G>T (p.Val1240=) c.2670G>T (p.Val890=) n.490G>T c.2694G>T (p.Val898=) c.2745G>T (p.Val915=) c.2472G>T (p.Val824=) c.2796G>T (p.Val932=) c.2706G>T (p.Val902=) c.2697G>T (p.Val899=) | |
3 | g.123284674C>G | CA435297683 | ADCY5 | c.2397G>C (p.Val799=) c.2685G>C (p.Val895=) n.2123G>C c.3795G>C (p.Val1265=) c.3720G>C (p.Val1240=) c.2670G>C (p.Val890=) n.490G>C c.2694G>C (p.Val898=) c.2745G>C (p.Val915=) c.2472G>C (p.Val824=) c.2796G>C (p.Val932=) c.2706G>C (p.Val902=) c.2697G>C (p.Val899=) | |
3 | g.123284674C>T | CA435297684 | ADCY5 | c.2397G>A (p.Val799=) c.2685G>A (p.Val895=) n.2123G>A c.3795G>A (p.Val1265=) c.3720G>A (p.Val1240=) c.2670G>A (p.Val890=) n.490G>A c.2694G>A (p.Val898=) c.2745G>A (p.Val915=) c.2472G>A (p.Val824=) c.2796G>A (p.Val932=) c.2706G>A (p.Val902=) c.2697G>A (p.Val899=) |