Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122284630_122285173delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA | CA1397872785 | CASR | c.2445_2988delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser815=) c.2706_3249delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser902=) c.2676_3219delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser892=) c.2193_2736delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser731=) c.2088_2631delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser696=) | |
3 | g.122284636_122285178del | CA281596 | CASR | c.2451_2993del (p.Ser818_Val998del) c.2712_3254del (p.Ser905_Val1085del) c.2682_3224del (p.Ser895_Val1075del) c.2199_2741del (p.Ser734_Val914del) c.2094_2636del (p.Ser699_Val879del) | ClinVar dbSNP |
3 | g.122284755_122284832dup | CA2667224708 | CASR | c.2570_2647dup (p.Gln882_Pro883insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) c.2831_2908dup (p.Gln969_Pro970insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) c.2801_2878dup (p.Gln959_Pro960insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) c.2318_2395dup (p.Gln798_Pro799insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) c.2213_2290dup (p.Gln763_Pro764insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) | gnomAD v4 |
3 | g.122284796_122284834dup | CA545962776 | CASR | c.2611_2649dup (p.Pro883_Arg884insLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnPro) c.2872_2910dup (p.Pro970_Arg971insLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnPro) c.2842_2880dup (p.Pro960_Arg961insLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnPro) c.2359_2397dup (p.Pro799_Arg800insLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnPro) c.2254_2292dup (p.Pro764_Arg765insLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnPro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284820T>A | CA354160937 | CASR | c.2635T>A (p.Ser879Thr) c.2896T>A (p.Ser966Thr) c.2866T>A (p.Ser956Thr) c.2383T>A (p.Ser795Thr) c.2278T>A (p.Ser760Thr) | |
3 | g.122284820T>C | CA354160938 | CASR | c.2635T>C (p.Ser879Pro) c.2896T>C (p.Ser966Pro) c.2866T>C (p.Ser956Pro) c.2383T>C (p.Ser795Pro) c.2278T>C (p.Ser760Pro) | |
3 | g.122284820T>G | CA354160939 | CASR | c.2635T>G (p.Ser879Ala) c.2896T>G (p.Ser966Ala) c.2866T>G (p.Ser956Ala) c.2383T>G (p.Ser795Ala) c.2278T>G (p.Ser760Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.122284820T= | CA1397872977 | CASR | c.2635T= (p.Ser879=) c.2896T= (p.Ser966=) c.2866T= (p.Ser956=) c.2383T= (p.Ser795=) c.2278T= (p.Ser760=) | |
3 | g.122284822_122284823del | CA2703904610 | CASR | c.2637_2638del (p.Gln880AlafsTer23) c.2898_2899del (p.Gln967AlafsTer23) c.2868_2869del (p.Gln957AlafsTer23) c.2385_2386del (p.Gln796AlafsTer23) c.2280_2281del (p.Gln761AlafsTer23) | dbSNP |
3 | g.122284821C>A | CA354160940 | CASR | c.2636C>A (p.Ser879Tyr) c.2897C>A (p.Ser966Tyr) c.2867C>A (p.Ser956Tyr) c.2384C>A (p.Ser795Tyr) c.2279C>A (p.Ser760Tyr) | ClinVar dbSNP |
3 | g.122284821C= | CA1397872978 | CASR | c.2636C= (p.Ser879=) c.2897C= (p.Ser966=) c.2867C= (p.Ser956=) c.2384C= (p.Ser795=) c.2279C= (p.Ser760=) | |
3 | g.122284821C>G | CA354160941 | CASR | c.2636C>G (p.Ser879Cys) c.2897C>G (p.Ser966Cys) c.2867C>G (p.Ser956Cys) c.2384C>G (p.Ser795Cys) c.2279C>G (p.Ser760Cys) | |
3 | g.122284821C>T | CA354160942 | CASR | c.2636C>T (p.Ser879Phe) c.2897C>T (p.Ser966Phe) c.2867C>T (p.Ser956Phe) c.2384C>T (p.Ser795Phe) c.2279C>T (p.Ser760Phe) | ClinVar gnomAD v4 |
3 | g.122284822T>A | CA435425682 | CASR | c.2637T>A (p.Ser879=) c.2898T>A (p.Ser966=) c.2868T>A (p.Ser956=) c.2385T>A (p.Ser795=) c.2280T>A (p.Ser760=) | |
3 | g.122284822T>C | CA435425683 | CASR | c.2637T>C (p.Ser879=) c.2898T>C (p.Ser966=) c.2868T>C (p.Ser956=) c.2385T>C (p.Ser795=) c.2280T>C (p.Ser760=) | |
3 | g.122284822T>G | CA435425684 | CASR | c.2637T>G (p.Ser879=) c.2898T>G (p.Ser966=) c.2868T>G (p.Ser956=) c.2385T>G (p.Ser795=) c.2280T>G (p.Ser760=) | |
3 | g.122284823C>A | CA354160944 | CASR | c.2638C>A (p.Gln880Lys) c.2899C>A (p.Gln967Lys) c.2869C>A (p.Gln957Lys) c.2386C>A (p.Gln796Lys) c.2281C>A (p.Gln761Lys) | |
3 | g.122284823C>G | CA354160945 | CASR | c.2638C>G (p.Gln880Glu) c.2899C>G (p.Gln967Glu) c.2869C>G (p.Gln957Glu) c.2386C>G (p.Gln796Glu) c.2281C>G (p.Gln761Glu) | |
3 | g.122284823C>T | CA354160943 | CASR | c.2638C>T (p.Gln880Ter) c.2899C>T (p.Gln967Ter) c.2869C>T (p.Gln957Ter) c.2386C>T (p.Gln796Ter) c.2281C>T (p.Gln761Ter) | |
3 | g.122284830_122284832del | CA2580616521 | CASR | c.2645_2647del (p.Gln882del) c.2906_2908del (p.Gln969del) c.2876_2878del (p.Gln959del) c.2393_2395del (p.Gln798del) c.2288_2290del (p.Gln763del) | ClinVar dbSNP |
3 | g.122284824A= | CA1397872980 | CASR | c.2639A= (p.Gln880=) c.2900A= (p.Gln967=) c.2870A= (p.Gln957=) c.2387A= (p.Gln796=) c.2282A= (p.Gln761=) | |
3 | g.122284824A>C | CA354160946 | CASR | c.2639A>C (p.Gln880Pro) c.2900A>C (p.Gln967Pro) c.2870A>C (p.Gln957Pro) c.2387A>C (p.Gln796Pro) c.2282A>C (p.Gln761Pro) | ClinVar gnomAD v4 |
3 | g.122284824A>G | CA2569883 | CASR | c.2639A>G (p.Gln880Arg) c.2900A>G (p.Gln967Arg) c.2870A>G (p.Gln957Arg) c.2387A>G (p.Gln796Arg) c.2282A>G (p.Gln761Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284824A>T | CA354160947 | CASR | c.2639A>T (p.Gln880Leu) c.2900A>T (p.Gln967Leu) c.2870A>T (p.Gln957Leu) c.2387A>T (p.Gln796Leu) c.2282A>T (p.Gln761Leu) | |
3 | g.122284825G>A | CA435425688 | CASR | c.2640G>A (p.Gln880=) c.2901G>A (p.Gln967=) c.2871G>A (p.Gln957=) c.2388G>A (p.Gln796=) c.2283G>A (p.Gln761=) | ClinVar |
3 | g.122284825G>C | CA82749324 | CASR | c.2640G>C (p.Gln880His) c.2901G>C (p.Gln967His) c.2871G>C (p.Gln957His) c.2388G>C (p.Gln796His) c.2283G>C (p.Gln761His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284825G= | CA1397872982 | CASR | c.2640G= (p.Gln880=) c.2901G= (p.Gln967=) c.2871G= (p.Gln957=) c.2388G= (p.Gln796=) c.2283G= (p.Gln761=) | |
3 | g.122284825G>T | CA354160948 | CASR | c.2640G>T (p.Gln880His) c.2901G>T (p.Gln967His) c.2871G>T (p.Gln957His) c.2388G>T (p.Gln796His) c.2283G>T (p.Gln761His) | |
3 | g.122284826C>A | CA354160949 | CASR | c.2641C>A (p.Gln881Lys) c.2902C>A (p.Gln968Lys) c.2872C>A (p.Gln958Lys) c.2389C>A (p.Gln797Lys) c.2284C>A (p.Gln762Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.122284826C= | CA1397872983 | CASR | c.2641C= (p.Gln881=) c.2902C= (p.Gln968=) c.2872C= (p.Gln958=) c.2389C= (p.Gln797=) c.2284C= (p.Gln762=) | |
3 | g.122284826C>G | CA354160950 | CASR | c.2641C>G (p.Gln881Glu) c.2902C>G (p.Gln968Glu) c.2872C>G (p.Gln958Glu) c.2389C>G (p.Gln797Glu) c.2284C>G (p.Gln762Glu) | |
3 | g.122284826C>T | CA354160951 | CASR | c.2641C>T (p.Gln881Ter) c.2902C>T (p.Gln968Ter) c.2872C>T (p.Gln958Ter) c.2389C>T (p.Gln797Ter) c.2284C>T (p.Gln762Ter) | |
3 | g.122284827A>C | CA354160952 | CASR | c.2642A>C (p.Gln881Pro) c.2903A>C (p.Gln968Pro) c.2873A>C (p.Gln958Pro) c.2390A>C (p.Gln797Pro) c.2285A>C (p.Gln762Pro) | |
3 | g.122284827A>G | CA354160953 | CASR | c.2642A>G (p.Gln881Arg) c.2903A>G (p.Gln968Arg) c.2873A>G (p.Gln958Arg) c.2390A>G (p.Gln797Arg) c.2285A>G (p.Gln762Arg) | ClinVar |
3 | g.122284827A>T | CA354160954 | CASR | c.2642A>T (p.Gln881Leu) c.2903A>T (p.Gln968Leu) c.2873A>T (p.Gln958Leu) c.2390A>T (p.Gln797Leu) c.2285A>T (p.Gln762Leu) | gnomAD v4 COSMIC |
3 | g.122284828G>A | CA435425692 | CASR | c.2643G>A (p.Gln881=) c.2904G>A (p.Gln968=) c.2874G>A (p.Gln958=) c.2391G>A (p.Gln797=) c.2286G>A (p.Gln762=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284828G>C | CA354160955 | CASR | c.2643G>C (p.Gln881His) c.2904G>C (p.Gln968His) c.2874G>C (p.Gln958His) c.2391G>C (p.Gln797His) c.2286G>C (p.Gln762His) | |
3 | g.122284828G= | CA1397872985 | CASR | c.2643G= (p.Gln881=) c.2904G= (p.Gln968=) c.2874G= (p.Gln958=) c.2391G= (p.Gln797=) c.2286G= (p.Gln762=) | |
3 | g.122284828G>T | CA354160956 | CASR | c.2643G>T (p.Gln881His) c.2904G>T (p.Gln968His) c.2874G>T (p.Gln958His) c.2391G>T (p.Gln797His) c.2286G>T (p.Gln762His) | |
3 | g.122284829C>A | CA354160957 | CASR | c.2644C>A (p.Gln882Lys) c.2905C>A (p.Gln969Lys) c.2875C>A (p.Gln959Lys) c.2392C>A (p.Gln798Lys) c.2287C>A (p.Gln763Lys) | ClinVar dbSNP |
3 | g.122284829C>G | CA354160958 | CASR | c.2644C>G (p.Gln882Glu) c.2905C>G (p.Gln969Glu) c.2875C>G (p.Gln959Glu) c.2392C>G (p.Gln798Glu) c.2287C>G (p.Gln763Glu) | gnomAD v4 |
3 | g.122284829C>T | CA354160959 | CASR | c.2644C>T (p.Gln882Ter) c.2905C>T (p.Gln969Ter) c.2875C>T (p.Gln959Ter) c.2392C>T (p.Gln798Ter) c.2287C>T (p.Gln763Ter) | |
3 | g.122284830A>C | CA354160960 | CASR | c.2645A>C (p.Gln882Pro) c.2906A>C (p.Gln969Pro) c.2876A>C (p.Gln959Pro) c.2393A>C (p.Gln798Pro) c.2288A>C (p.Gln763Pro) | |
3 | g.122284830A>G | CA354160962 | CASR | c.2645A>G (p.Gln882Arg) c.2906A>G (p.Gln969Arg) c.2876A>G (p.Gln959Arg) c.2393A>G (p.Gln798Arg) c.2288A>G (p.Gln763Arg) | |
3 | g.122284830A>T | CA354160961 | CASR | c.2645A>T (p.Gln882Leu) c.2906A>T (p.Gln969Leu) c.2876A>T (p.Gln959Leu) c.2393A>T (p.Gln798Leu) c.2288A>T (p.Gln763Leu) | |
3 | g.122284831del | CA2573136467 | CASR | c.2646del (p.Gln882HisfsTer19) c.2907del (p.Gln969HisfsTer19) c.2877del (p.Gln959HisfsTer19) c.2394del (p.Gln798HisfsTer19) c.2289del (p.Gln763HisfsTer19) | ClinVar dbSNP |
3 | g.122284831G>A | CA435425696 | CASR | c.2646G>A (p.Gln882=) c.2907G>A (p.Gln969=) c.2877G>A (p.Gln959=) c.2394G>A (p.Gln798=) c.2289G>A (p.Gln763=) | |
3 | g.122284831G>C | CA354160963 | CASR | c.2646G>C (p.Gln882His) c.2907G>C (p.Gln969His) c.2877G>C (p.Gln959His) c.2394G>C (p.Gln798His) c.2289G>C (p.Gln763His) | |
3 | g.122284831G>T | CA354160964 | CASR | c.2646G>T (p.Gln882His) c.2907G>T (p.Gln969His) c.2877G>T (p.Gln959His) c.2394G>T (p.Gln798His) c.2289G>T (p.Gln763His) | |
3 | g.122284832C>A | CA354160965 | CASR | c.2647C>A (p.Pro883Thr) c.2908C>A (p.Pro970Thr) c.2878C>A (p.Pro960Thr) c.2395C>A (p.Pro799Thr) c.2290C>A (p.Pro764Thr) | |
3 | g.122284832C= | CA1397872986 | CASR | c.2647C= (p.Pro883=) c.2908C= (p.Pro970=) c.2878C= (p.Pro960=) c.2395C= (p.Pro799=) c.2290C= (p.Pro764=) | |
3 | g.122284832C>G | CA354160966 | CASR | c.2647C>G (p.Pro883Ala) c.2908C>G (p.Pro970Ala) c.2878C>G (p.Pro960Ala) c.2395C>G (p.Pro799Ala) c.2290C>G (p.Pro764Ala) | gnomAD v4 |
3 | g.122284832C>T | CA354160967 | CASR | c.2647C>T (p.Pro883Ser) c.2908C>T (p.Pro970Ser) c.2878C>T (p.Pro960Ser) c.2395C>T (p.Pro799Ser) c.2290C>T (p.Pro764Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284833C>A | CA354160968 | CASR | c.2648C>A (p.Pro883His) c.2909C>A (p.Pro970His) c.2879C>A (p.Pro960His) c.2396C>A (p.Pro799His) c.2291C>A (p.Pro764His) | |
3 | g.122284833C>G | CA354160969 | CASR | c.2648C>G (p.Pro883Arg) c.2909C>G (p.Pro970Arg) c.2879C>G (p.Pro960Arg) c.2396C>G (p.Pro799Arg) c.2291C>G (p.Pro764Arg) | |
3 | g.122284833C>T | CA354160970 | CASR | c.2648C>T (p.Pro883Leu) c.2909C>T (p.Pro970Leu) c.2879C>T (p.Pro960Leu) c.2396C>T (p.Pro799Leu) c.2291C>T (p.Pro764Leu) | ClinVar gnomAD v4 |
3 | g.122284834C>A | CA435425698 | CASR | c.2649C>A (p.Pro883=) c.2910C>A (p.Pro970=) c.2880C>A (p.Pro960=) c.2397C>A (p.Pro799=) c.2292C>A (p.Pro764=) | |
3 | g.122284834C>G | CA435425699 | CASR | c.2649C>G (p.Pro883=) c.2910C>G (p.Pro970=) c.2880C>G (p.Pro960=) c.2397C>G (p.Pro799=) c.2292C>G (p.Pro764=) | |
3 | g.122284834C>T | CA435425700 | CASR | c.2649C>T (p.Pro883=) c.2910C>T (p.Pro970=) c.2880C>T (p.Pro960=) c.2397C>T (p.Pro799=) c.2292C>T (p.Pro764=) | |
3 | g.122284835A= | CA1397872988 | CASR | c.2650A= (p.Arg884=) c.2911A= (p.Arg971=) c.2881A= (p.Arg961=) c.2398A= (p.Arg800=) c.2293A= (p.Arg765=) | |
3 | g.122284835A>C | CA435425701 | CASR | c.2650A>C (p.Arg884=) c.2911A>C (p.Arg971=) c.2881A>C (p.Arg961=) c.2398A>C (p.Arg800=) c.2293A>C (p.Arg765=) | |
3 | g.122284835A>G | CA354160971 | CASR | c.2650A>G (p.Arg884Gly) c.2911A>G (p.Arg971Gly) c.2881A>G (p.Arg961Gly) c.2398A>G (p.Arg800Gly) c.2293A>G (p.Arg765Gly) | ClinVar dbSNP |
3 | g.122284835A>T | CA354160972 | CASR | c.2650A>T (p.Arg884Ter) c.2911A>T (p.Arg971Ter) c.2881A>T (p.Arg961Ter) c.2398A>T (p.Arg800Ter) c.2293A>T (p.Arg765Ter) | |
3 | g.122284836G>A | CA354160975 | CASR | c.2651G>A (p.Arg884Lys) c.2912G>A (p.Arg971Lys) c.2882G>A (p.Arg961Lys) c.2399G>A (p.Arg800Lys) c.2294G>A (p.Arg765Lys) | ClinVar dbSNP COSMIC |
3 | g.122284836G>C | CA354160974 | CASR | c.2651G>C (p.Arg884Thr) c.2912G>C (p.Arg971Thr) c.2882G>C (p.Arg961Thr) c.2399G>C (p.Arg800Thr) c.2294G>C (p.Arg765Thr) | |
3 | g.122284836G= | CA1397872990 | CASR | c.2651G= (p.Arg884=) c.2912G= (p.Arg971=) c.2882G= (p.Arg961=) c.2399G= (p.Arg800=) c.2294G= (p.Arg765=) | |
3 | g.122284836G>T | CA354160973 | CASR | c.2651G>T (p.Arg884Ile) c.2912G>T (p.Arg971Ile) c.2882G>T (p.Arg961Ile) c.2399G>T (p.Arg800Ile) c.2294G>T (p.Arg765Ile) | |
3 | g.122284837A>C | CA354160976 | CASR | c.2652A>C (p.Arg884Ser) c.2913A>C (p.Arg971Ser) c.2883A>C (p.Arg961Ser) c.2400A>C (p.Arg800Ser) c.2295A>C (p.Arg765Ser) | |
3 | g.122284837A>G | CA435425703 | CASR | c.2652A>G (p.Arg884=) c.2913A>G (p.Arg971=) c.2883A>G (p.Arg961=) c.2400A>G (p.Arg800=) c.2295A>G (p.Arg765=) | |
3 | g.122284837A>T | CA354160977 | CASR | c.2652A>T (p.Arg884Ser) c.2913A>T (p.Arg971Ser) c.2883A>T (p.Arg961Ser) c.2400A>T (p.Arg800Ser) c.2295A>T (p.Arg765Ser) | |
3 | g.122284838T>A | CA354160978 | CASR | c.2653T>A (p.Cys885Ser) c.2914T>A (p.Cys972Ser) c.2884T>A (p.Cys962Ser) c.2401T>A (p.Cys801Ser) c.2296T>A (p.Cys766Ser) | |
3 | g.122284838T>C | CA2569884 | CASR | c.2653T>C (p.Cys885Arg) c.2914T>C (p.Cys972Arg) c.2884T>C (p.Cys962Arg) c.2401T>C (p.Cys801Arg) c.2296T>C (p.Cys766Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284838T>G | CA354160979 | CASR | c.2653T>G (p.Cys885Gly) c.2914T>G (p.Cys972Gly) c.2884T>G (p.Cys962Gly) c.2401T>G (p.Cys801Gly) c.2296T>G (p.Cys766Gly) | |
3 | g.122284838T= | CA1397872991 | CASR | c.2653T= (p.Cys885=) c.2914T= (p.Cys972=) c.2884T= (p.Cys962=) c.2401T= (p.Cys801=) c.2296T= (p.Cys766=) | |
3 | g.122284839G>A | CA354160980 | CASR | c.2654G>A (p.Cys885Tyr) c.2915G>A (p.Cys972Tyr) c.2885G>A (p.Cys962Tyr) c.2402G>A (p.Cys801Tyr) c.2297G>A (p.Cys766Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284839G>C | CA354160981 | CASR | c.2654G>C (p.Cys885Ser) c.2915G>C (p.Cys972Ser) c.2885G>C (p.Cys962Ser) c.2402G>C (p.Cys801Ser) c.2297G>C (p.Cys766Ser) | |
3 | g.122284839G= | CA1397872992 | CASR | c.2654G= (p.Cys885=) c.2915G= (p.Cys972=) c.2885G= (p.Cys962=) c.2402G= (p.Cys801=) c.2297G= (p.Cys766=) | |
3 | g.122284839G>T | CA354160982 | CASR | c.2654G>T (p.Cys885Phe) c.2915G>T (p.Cys972Phe) c.2885G>T (p.Cys962Phe) c.2402G>T (p.Cys801Phe) c.2297G>T (p.Cys766Phe) | |
3 | g.122284840C>A | CA354160983 | CASR | c.2655C>A (p.Cys885Ter) c.2916C>A (p.Cys972Ter) c.2886C>A (p.Cys962Ter) c.2403C>A (p.Cys801Ter) c.2298C>A (p.Cys766Ter) | |
3 | g.122284840C>G | CA354160984 | CASR | c.2655C>G (p.Cys885Trp) c.2916C>G (p.Cys972Trp) c.2886C>G (p.Cys962Trp) c.2403C>G (p.Cys801Trp) c.2298C>G (p.Cys766Trp) | |
3 | g.122284840C>T | CA435425707 | CASR | c.2655C>T (p.Cys885=) c.2916C>T (p.Cys972=) c.2886C>T (p.Cys962=) c.2403C>T (p.Cys801=) c.2298C>T (p.Cys766=) | gnomAD v4 |
3 | g.122284841A>C | CA354160985 | CASR | c.2656A>C (p.Lys886Gln) c.2917A>C (p.Lys973Gln) c.2887A>C (p.Lys963Gln) c.2404A>C (p.Lys802Gln) c.2299A>C (p.Lys767Gln) | |
3 | g.122284841A>G | CA354160986 | CASR | c.2656A>G (p.Lys886Glu) c.2917A>G (p.Lys973Glu) c.2887A>G (p.Lys963Glu) c.2404A>G (p.Lys802Glu) c.2299A>G (p.Lys767Glu) | |
3 | g.122284841A>T | CA354160987 | CASR | c.2656A>T (p.Lys886Ter) c.2917A>T (p.Lys973Ter) c.2887A>T (p.Lys963Ter) c.2404A>T (p.Lys802Ter) c.2299A>T (p.Lys767Ter) | |
3 | g.122284842A>C | CA354160990 | CASR | c.2657A>C (p.Lys886Thr) c.2918A>C (p.Lys973Thr) c.2888A>C (p.Lys963Thr) c.2405A>C (p.Lys802Thr) c.2300A>C (p.Lys767Thr) | |
3 | g.122284842A>G | CA354160988 | CASR | c.2657A>G (p.Lys886Arg) c.2918A>G (p.Lys973Arg) c.2888A>G (p.Lys963Arg) c.2405A>G (p.Lys802Arg) c.2300A>G (p.Lys767Arg) | ClinVar gnomAD v4 |
3 | g.122284842A>T | CA354160989 | CASR | c.2657A>T (p.Lys886Met) c.2918A>T (p.Lys973Met) c.2888A>T (p.Lys963Met) c.2405A>T (p.Lys802Met) c.2300A>T (p.Lys767Met) | |
3 | g.122284842_122285665del | CA2740094578 | CASR | c.2657_*474del (n.[c.2657_*474del;Lys886ThrfsTer5]) c.2918_*474del (n.[c.2918_*474del;Lys973ThrfsTer5]) c.2888_*474del (n.[c.2888_*474del;Lys963ThrfsTer5]) c.2405_*474del (n.[c.2405_*474del;Lys802ThrfsTer5]) c.2300_*474del (n.[c.2300_*474del;Lys767ThrfsTer5]) | ClinVar |
3 | g.122284843G>A | CA435425711 | CASR | c.2658G>A (p.Lys886=) c.2919G>A (p.Lys973=) c.2889G>A (p.Lys963=) c.2406G>A (p.Lys802=) c.2301G>A (p.Lys767=) | ClinVar |
3 | g.122284843G>C | CA16611133 | CASR | c.2658G>C (p.Lys886Asn) c.2919G>C (p.Lys973Asn) c.2889G>C (p.Lys963Asn) c.2406G>C (p.Lys802Asn) c.2301G>C (p.Lys767Asn) | ClinVar dbSNP gnomAD v2 |
3 | g.122284843G= | CA1397872994 | CASR | c.2658G= (p.Lys886=) c.2919G= (p.Lys973=) c.2889G= (p.Lys963=) c.2406G= (p.Lys802=) c.2301G= (p.Lys767=) | |
3 | g.122284843G>T | CA354160991 | CASR | c.2658G>T (p.Lys886Asn) c.2919G>T (p.Lys973Asn) c.2889G>T (p.Lys963Asn) c.2406G>T (p.Lys802Asn) c.2301G>T (p.Lys767Asn) | ClinVar |
3 | g.122284844C>A | CA354160992 | CASR | c.2659C>A (p.Gln887Lys) c.2920C>A (p.Gln974Lys) c.2890C>A (p.Gln964Lys) c.2407C>A (p.Gln803Lys) c.2302C>A (p.Gln768Lys) | |
3 | g.122284844C= | CA1397872997 | CASR | c.2659C= (p.Gln887=) c.2920C= (p.Gln974=) c.2890C= (p.Gln964=) c.2407C= (p.Gln803=) c.2302C= (p.Gln768=) | |
3 | g.122284844C>G | CA354160993 | CASR | c.2659C>G (p.Gln887Glu) c.2920C>G (p.Gln974Glu) c.2890C>G (p.Gln964Glu) c.2407C>G (p.Gln803Glu) c.2302C>G (p.Gln768Glu) | ClinVar dbSNP |
3 | g.122284844C>T | CA354160994 | CASR | c.2659C>T (p.Gln887Ter) c.2920C>T (p.Gln974Ter) c.2890C>T (p.Gln964Ter) c.2407C>T (p.Gln803Ter) c.2302C>T (p.Gln768Ter) | |
3 | g.122284844_122284847delinsCAGA | CA1397872995 | CASR | c.2659_2662delinsCAGA (p.Gln887=) c.2920_2923delinsCAGA (p.Gln974=) c.2890_2893delinsCAGA (p.Gln964=) c.2407_2410delinsCAGA (p.Gln803=) c.2302_2305delinsCAGA (p.Gln768=) | |
3 | g.122284845A>C | CA354160995 | CASR | c.2660A>C (p.Gln887Pro) c.2921A>C (p.Gln974Pro) c.2891A>C (p.Gln964Pro) c.2408A>C (p.Gln803Pro) c.2303A>C (p.Gln768Pro) | |
3 | g.122284845A>G | CA354160996 | CASR | c.2660A>G (p.Gln887Arg) c.2921A>G (p.Gln974Arg) c.2891A>G (p.Gln964Arg) c.2408A>G (p.Gln803Arg) c.2303A>G (p.Gln768Arg) | |
3 | g.122284845A>T | CA354160997 | CASR | c.2660A>T (p.Gln887Leu) c.2921A>T (p.Gln974Leu) c.2891A>T (p.Gln964Leu) c.2408A>T (p.Gln803Leu) c.2303A>T (p.Gln768Leu) | |
3 | g.122284847_122284849del | CA2569885 | CASR | c.2662_2664del (p.Lys888del) c.2923_2925del (p.Lys975del) c.2893_2895del (p.Lys965del) c.2410_2412del (p.Lys804del) c.2305_2307del (p.Lys769del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284846G>A | CA435425713 | CASR | c.2661G>A (p.Gln887=) c.2922G>A (p.Gln974=) c.2892G>A (p.Gln964=) c.2409G>A (p.Gln803=) c.2304G>A (p.Gln768=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284846G>C | CA354160998 | CASR | c.2661G>C (p.Gln887His) c.2922G>C (p.Gln974His) c.2892G>C (p.Gln964His) c.2409G>C (p.Gln803His) c.2304G>C (p.Gln768His) | |
3 | g.122284846G= | CA1397872998 | CASR | c.2661G= (p.Gln887=) c.2922G= (p.Gln974=) c.2892G= (p.Gln964=) c.2409G= (p.Gln803=) c.2304G= (p.Gln768=) | |
3 | g.122284846G>T | CA354160999 | CASR | c.2661G>T (p.Gln887His) c.2922G>T (p.Gln974His) c.2892G>T (p.Gln964His) c.2409G>T (p.Gln803His) c.2304G>T (p.Gln768His) | |
3 | g.122284847A>C | CA354161002 | CASR | c.2662A>C (p.Lys888Gln) c.2923A>C (p.Lys975Gln) c.2893A>C (p.Lys965Gln) c.2410A>C (p.Lys804Gln) c.2305A>C (p.Lys769Gln) | |
3 | g.122284847A>G | CA354161001 | CASR | c.2662A>G (p.Lys888Glu) c.2923A>G (p.Lys975Glu) c.2893A>G (p.Lys965Glu) c.2410A>G (p.Lys804Glu) c.2305A>G (p.Lys769Glu) | |
3 | g.122284847A>T | CA354161000 | CASR | c.2662A>T (p.Lys888Ter) c.2923A>T (p.Lys975Ter) c.2893A>T (p.Lys965Ter) c.2410A>T (p.Lys804Ter) c.2305A>T (p.Lys769Ter) | |
3 | g.122284848A>C | CA354161003 | CASR | c.2663A>C (p.Lys888Thr) c.2924A>C (p.Lys975Thr) c.2894A>C (p.Lys965Thr) c.2411A>C (p.Lys804Thr) c.2306A>C (p.Lys769Thr) | |
3 | g.122284848A>G | CA354161004 | CASR | c.2663A>G (p.Lys888Arg) c.2924A>G (p.Lys975Arg) c.2894A>G (p.Lys965Arg) c.2411A>G (p.Lys804Arg) c.2306A>G (p.Lys769Arg) | |
3 | g.122284848A>T | CA354161005 | CASR | c.2663A>T (p.Lys888Met) c.2924A>T (p.Lys975Met) c.2894A>T (p.Lys965Met) c.2411A>T (p.Lys804Met) c.2306A>T (p.Lys769Met) | |
3 | g.122284849G>A | CA435425714 | CASR | c.2664G>A (p.Lys888=) c.2925G>A (p.Lys975=) c.2895G>A (p.Lys965=) c.2412G>A (p.Lys804=) c.2307G>A (p.Lys769=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284849G>C | CA354161006 | CASR | c.2664G>C (p.Lys888Asn) c.2925G>C (p.Lys975Asn) c.2895G>C (p.Lys965Asn) c.2412G>C (p.Lys804Asn) c.2307G>C (p.Lys769Asn) | gnomAD v4 |
3 | g.122284849G= | CA1397873000 | CASR | c.2664G= (p.Lys888=) c.2925G= (p.Lys975=) c.2895G= (p.Lys965=) c.2412G= (p.Lys804=) c.2307G= (p.Lys769=) | |
3 | g.122284849G>T | CA354161007 | CASR | c.2664G>T (p.Lys888Asn) c.2925G>T (p.Lys975Asn) c.2895G>T (p.Lys965Asn) c.2412G>T (p.Lys804Asn) c.2307G>T (p.Lys769Asn) | ClinVar dbSNP |
3 | g.122284850G>A | CA354161008 | CASR | c.2665G>A (p.Val889Ile) c.2926G>A (p.Val976Ile) c.2896G>A (p.Val966Ile) c.2413G>A (p.Val805Ile) c.2308G>A (p.Val770Ile) | ClinVar |
3 | g.122284850G>C | CA354161009 | CASR | c.2665G>C (p.Val889Leu) c.2926G>C (p.Val976Leu) c.2896G>C (p.Val966Leu) c.2413G>C (p.Val805Leu) c.2308G>C (p.Val770Leu) | |
3 | g.122284850G>T | CA354161010 | CASR | c.2665G>T (p.Val889Phe) c.2926G>T (p.Val976Phe) c.2896G>T (p.Val966Phe) c.2413G>T (p.Val805Phe) c.2308G>T (p.Val770Phe) | |
3 | g.122284851T>A | CA354161011 | CASR | c.2666T>A (p.Val889Asp) c.2927T>A (p.Val976Asp) c.2897T>A (p.Val966Asp) c.2414T>A (p.Val805Asp) c.2309T>A (p.Val770Asp) | |
3 | g.122284851T>C | CA354161012 | CASR | c.2666T>C (p.Val889Ala) c.2927T>C (p.Val976Ala) c.2897T>C (p.Val966Ala) c.2414T>C (p.Val805Ala) c.2309T>C (p.Val770Ala) | |
3 | g.122284851T>G | CA354161013 | CASR | c.2666T>G (p.Val889Gly) c.2927T>G (p.Val976Gly) c.2897T>G (p.Val966Gly) c.2414T>G (p.Val805Gly) c.2309T>G (p.Val770Gly) | |
3 | g.122284852C>A | CA435425715 | CASR | c.2667C>A (p.Val889=) c.2928C>A (p.Val976=) c.2898C>A (p.Val966=) c.2415C>A (p.Val805=) c.2310C>A (p.Val770=) | |
3 | g.122284852C= | CA1397873001 | CASR | c.2667C= (p.Val889=) c.2928C= (p.Val976=) c.2898C= (p.Val966=) c.2415C= (p.Val805=) c.2310C= (p.Val770=) | |
3 | g.122284852C>G | CA435425717 | CASR | c.2667C>G (p.Val889=) c.2928C>G (p.Val976=) c.2898C>G (p.Val966=) c.2415C>G (p.Val805=) c.2310C>G (p.Val770=) | |
3 | g.122284852C>T | CA435425716 | CASR | c.2667C>T (p.Val889=) c.2928C>T (p.Val976=) c.2898C>T (p.Val966=) c.2415C>T (p.Val805=) c.2310C>T (p.Val770=) | ClinVar dbSNP |
3 | g.122284853A= | CA1397873003 | CASR | c.2668A= (p.Ile890=) c.2929A= (p.Ile977=) c.2899A= (p.Ile967=) c.2416A= (p.Ile806=) c.2311A= (p.Ile771=) | |
3 | g.122284853A>C | CA354161014 | CASR | c.2668A>C (p.Ile890Leu) c.2929A>C (p.Ile977Leu) c.2899A>C (p.Ile967Leu) c.2416A>C (p.Ile806Leu) c.2311A>C (p.Ile771Leu) | |
3 | g.122284853A>G | CA2569886 | CASR | c.2668A>G (p.Ile890Val) c.2929A>G (p.Ile977Val) c.2899A>G (p.Ile967Val) c.2416A>G (p.Ile806Val) c.2311A>G (p.Ile771Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.122284853A>T | CA354161015 | CASR | c.2668A>T (p.Ile890Phe) c.2929A>T (p.Ile977Phe) c.2899A>T (p.Ile967Phe) c.2416A>T (p.Ile806Phe) c.2311A>T (p.Ile771Phe) | |
3 | g.122284854T>A | CA354161018 | CASR | c.2669T>A (p.Ile890Asn) c.2930T>A (p.Ile977Asn) c.2900T>A (p.Ile967Asn) c.2417T>A (p.Ile806Asn) c.2312T>A (p.Ile771Asn) | gnomAD v4 |
3 | g.122284854T>C | CA354161017 | CASR | c.2669T>C (p.Ile890Thr) c.2930T>C (p.Ile977Thr) c.2900T>C (p.Ile967Thr) c.2417T>C (p.Ile806Thr) c.2312T>C (p.Ile771Thr) | |
3 | g.122284854T>G | CA354161016 | CASR | c.2669T>G (p.Ile890Ser) c.2930T>G (p.Ile977Ser) c.2900T>G (p.Ile967Ser) c.2417T>G (p.Ile806Ser) c.2312T>G (p.Ile771Ser) | |
3 | g.122284854_122284875delinsTCTTTGGCAGCGGCACGGTCAC | CA1397873005 | CASR | c.2669_2690delinsTCTTTGGCAGCGGCACGGTCAC (p.Ile890=) c.2930_2951delinsTCTTTGGCAGCGGCACGGTCAC (p.Ile977=) c.2900_2921delinsTCTTTGGCAGCGGCACGGTCAC (p.Ile967=) c.2417_2438delinsTCTTTGGCAGCGGCACGGTCAC (p.Ile806=) c.2312_2333delinsTCTTTGGCAGCGGCACGGTCAC (p.Ile771=) | |
3 | g.122284855del | CA2580068669 | CASR | c.2670del (p.Phe891LeufsTer10) c.2931del (p.Phe978LeufsTer10) c.2901del (p.Phe968LeufsTer10) c.2418del (p.Phe807LeufsTer10) c.2313del (p.Phe772LeufsTer10) | ClinVar dbSNP |
3 | g.122284855C>A | CA246560 | CASR | c.2670C>A (p.Ile890=) c.2931C>A (p.Ile977=) c.2901C>A (p.Ile967=) c.2418C>A (p.Ile806=) c.2313C>A (p.Ile771=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284855C= | CA1397873007 | CASR | c.2670C= (p.Ile890=) c.2931C= (p.Ile977=) c.2901C= (p.Ile967=) c.2418C= (p.Ile806=) c.2313C= (p.Ile771=) | |
3 | g.122284855C>G | CA354161019 | CASR | c.2670C>G (p.Ile890Met) c.2931C>G (p.Ile977Met) c.2901C>G (p.Ile967Met) c.2418C>G (p.Ile806Met) c.2313C>G (p.Ile771Met) | |
3 | g.122284855C>T | CA435425718 | CASR | c.2670C>T (p.Ile890=) c.2931C>T (p.Ile977=) c.2901C>T (p.Ile967=) c.2418C>T (p.Ile806=) c.2313C>T (p.Ile771=) | ClinVar dbSNP |
3 | g.122284858_122284878del | CA916082596 | CASR | c.2673_2693del (p.Gly892_Phe898del) c.2934_2954del (p.Gly979_Phe985del) c.2904_2924del (p.Gly969_Phe975del) c.2421_2441del (p.Gly808_Phe814del) c.2316_2336del (p.Gly773_Phe779del) | ClinVar dbSNP |
3 | g.122284856T>A | CA354161020 | CASR | c.2671T>A (p.Phe891Ile) c.2932T>A (p.Phe978Ile) c.2902T>A (p.Phe968Ile) c.2419T>A (p.Phe807Ile) c.2314T>A (p.Phe772Ile) | |
3 | g.122284856T>C | CA354161021 | CASR | c.2671T>C (p.Phe891Leu) c.2932T>C (p.Phe978Leu) c.2902T>C (p.Phe968Leu) c.2419T>C (p.Phe807Leu) c.2314T>C (p.Phe772Leu) | |
3 | g.122284856T>G | CA354161022 | CASR | c.2671T>G (p.Phe891Val) c.2932T>G (p.Phe978Val) c.2902T>G (p.Phe968Val) c.2419T>G (p.Phe807Val) c.2314T>G (p.Phe772Val) | |
3 | g.122284857T>A | CA354161023 | CASR | c.2672T>A (p.Phe891Tyr) c.2933T>A (p.Phe978Tyr) c.2903T>A (p.Phe968Tyr) c.2420T>A (p.Phe807Tyr) c.2315T>A (p.Phe772Tyr) | |
3 | g.122284857T>C | CA354161024 | CASR | c.2672T>C (p.Phe891Ser) c.2933T>C (p.Phe978Ser) c.2903T>C (p.Phe968Ser) c.2420T>C (p.Phe807Ser) c.2315T>C (p.Phe772Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.122284857T>G | CA354161025 | CASR | c.2672T>G (p.Phe891Cys) c.2933T>G (p.Phe978Cys) c.2903T>G (p.Phe968Cys) c.2420T>G (p.Phe807Cys) c.2315T>G (p.Phe772Cys) | |
3 | g.122284858T>A | CA354161026 | CASR | c.2673T>A (p.Phe891Leu) c.2934T>A (p.Phe978Leu) c.2904T>A (p.Phe968Leu) c.2421T>A (p.Phe807Leu) c.2316T>A (p.Phe772Leu) | |
3 | g.122284858T>C | CA2569887 | CASR | c.2673T>C (p.Phe891=) c.2934T>C (p.Phe978=) c.2904T>C (p.Phe968=) c.2421T>C (p.Phe807=) c.2316T>C (p.Phe772=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284858T>G | CA354161027 | CASR | c.2673T>G (p.Phe891Leu) c.2934T>G (p.Phe978Leu) c.2904T>G (p.Phe968Leu) c.2421T>G (p.Phe807Leu) c.2316T>G (p.Phe772Leu) | ClinVar |
3 | g.122284858T= | CA1397873009 | CASR | c.2673T= (p.Phe891=) c.2934T= (p.Phe978=) c.2904T= (p.Phe968=) c.2421T= (p.Phe807=) c.2316T= (p.Phe772=) | |
3 | g.122284859G>A | CA354161028 | CASR | c.2674G>A (p.Gly892Ser) c.2935G>A (p.Gly979Ser) c.2905G>A (p.Gly969Ser) c.2422G>A (p.Gly808Ser) c.2317G>A (p.Gly773Ser) | ClinVar |
3 | g.122284859G>C | CA354161029 | CASR | c.2674G>C (p.Gly892Arg) c.2935G>C (p.Gly979Arg) c.2905G>C (p.Gly969Arg) c.2422G>C (p.Gly808Arg) c.2317G>C (p.Gly773Arg) | |
3 | g.122284859G>T | CA354161030 | CASR | c.2674G>T (p.Gly892Cys) c.2935G>T (p.Gly979Cys) c.2905G>T (p.Gly969Cys) c.2422G>T (p.Gly808Cys) c.2317G>T (p.Gly773Cys) | |
3 | g.122284860G>A | CA354161033 | CASR | c.2675G>A (p.Gly892Asp) c.2936G>A (p.Gly979Asp) c.2906G>A (p.Gly969Asp) c.2423G>A (p.Gly808Asp) c.2318G>A (p.Gly773Asp) | |
3 | g.122284860G>C | CA354161032 | CASR | c.2675G>C (p.Gly892Ala) c.2936G>C (p.Gly979Ala) c.2906G>C (p.Gly969Ala) c.2423G>C (p.Gly808Ala) c.2318G>C (p.Gly773Ala) | |
3 | g.122284860G>T | CA354161031 | CASR | c.2675G>T (p.Gly892Val) c.2936G>T (p.Gly979Val) c.2906G>T (p.Gly969Val) c.2423G>T (p.Gly808Val) c.2318G>T (p.Gly773Val) | |
3 | g.122284861C>A | CA435425719 | CASR | c.2676C>A (p.Gly892=) c.2937C>A (p.Gly979=) c.2907C>A (p.Gly969=) c.2424C>A (p.Gly808=) c.2319C>A (p.Gly773=) | |
3 | g.122284861C>G | CA435425720 | CASR | c.2676C>G (p.Gly892=) c.2937C>G (p.Gly979=) c.2907C>G (p.Gly969=) c.2424C>G (p.Gly808=) c.2319C>G (p.Gly773=) | gnomAD v4 |
3 | g.122284861C>T | CA435425721 | CASR | c.2676C>T (p.Gly892=) c.2937C>T (p.Gly979=) c.2907C>T (p.Gly969=) c.2424C>T (p.Gly808=) c.2319C>T (p.Gly773=) | ClinVar |
3 | g.122284862A>C | CA354161034 | CASR | c.2677A>C (p.Ser893Arg) c.2938A>C (p.Ser980Arg) c.2908A>C (p.Ser970Arg) c.2425A>C (p.Ser809Arg) c.2320A>C (p.Ser774Arg) | |
3 | g.122284862A>G | CA354161035 | CASR | c.2677A>G (p.Ser893Gly) c.2938A>G (p.Ser980Gly) c.2908A>G (p.Ser970Gly) c.2425A>G (p.Ser809Gly) c.2320A>G (p.Ser774Gly) | |
3 | g.122284862A>T | CA354161036 | CASR | c.2677A>T (p.Ser893Cys) c.2938A>T (p.Ser980Cys) c.2908A>T (p.Ser970Cys) c.2425A>T (p.Ser809Cys) c.2320A>T (p.Ser774Cys) | |
3 | g.122284863G>A | CA354161037 | CASR | c.2678G>A (p.Ser893Asn) c.2939G>A (p.Ser980Asn) c.2909G>A (p.Ser970Asn) c.2426G>A (p.Ser809Asn) c.2321G>A (p.Ser774Asn) | ClinVar |
3 | g.122284863G>C | CA354161038 | CASR | c.2678G>C (p.Ser893Thr) c.2939G>C (p.Ser980Thr) c.2909G>C (p.Ser970Thr) c.2426G>C (p.Ser809Thr) c.2321G>C (p.Ser774Thr) | |
3 | g.122284863G>T | CA354161039 | CASR | c.2678G>T (p.Ser893Ile) c.2939G>T (p.Ser980Ile) c.2909G>T (p.Ser970Ile) c.2426G>T (p.Ser809Ile) c.2321G>T (p.Ser774Ile) | |
3 | g.122284864C>A | CA354161041 | CASR | c.2679C>A (p.Ser893Arg) c.2940C>A (p.Ser980Arg) c.2910C>A (p.Ser970Arg) c.2427C>A (p.Ser809Arg) c.2322C>A (p.Ser774Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284864C= | CA1397873010 | CASR | c.2679C= (p.Ser893=) c.2940C= (p.Ser980=) c.2910C= (p.Ser970=) c.2427C= (p.Ser809=) c.2322C= (p.Ser774=) | |
3 | g.122284864C>G | CA354161040 | CASR | c.2679C>G (p.Ser893Arg) c.2940C>G (p.Ser980Arg) c.2910C>G (p.Ser970Arg) c.2427C>G (p.Ser809Arg) c.2322C>G (p.Ser774Arg) | gnomAD v4 |
3 | g.122284864C>T | CA2569888 | CASR | c.2679C>T (p.Ser893=) c.2940C>T (p.Ser980=) c.2910C>T (p.Ser970=) c.2427C>T (p.Ser809=) c.2322C>T (p.Ser774=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122284865G>A | CA354161042 | CASR | c.2680G>A (p.Gly894Ser) c.2941G>A (p.Gly981Ser) c.2911G>A (p.Gly971Ser) c.2428G>A (p.Gly810Ser) c.2323G>A (p.Gly775Ser) | COSMIC |
3 | g.122284865G>C | CA354161043 | CASR | c.2680G>C (p.Gly894Arg) c.2941G>C (p.Gly981Arg) c.2911G>C (p.Gly971Arg) c.2428G>C (p.Gly810Arg) c.2323G>C (p.Gly775Arg) | |
3 | g.122284865G>T | CA354161044 | CASR | c.2680G>T (p.Gly894Cys) c.2941G>T (p.Gly981Cys) c.2911G>T (p.Gly971Cys) c.2428G>T (p.Gly810Cys) c.2323G>T (p.Gly775Cys) | |
3 | g.122284866G>A | CA354161045 | CASR | c.2681G>A (p.Gly894Asp) c.2942G>A (p.Gly981Asp) c.2912G>A (p.Gly971Asp) c.2429G>A (p.Gly810Asp) c.2324G>A (p.Gly775Asp) | |
3 | g.122284866G>C | CA354161046 | CASR | c.2681G>C (p.Gly894Ala) c.2942G>C (p.Gly981Ala) c.2912G>C (p.Gly971Ala) c.2429G>C (p.Gly810Ala) c.2324G>C (p.Gly775Ala) | |
3 | g.122284866G= | CA1397873012 | CASR | c.2681G= (p.Gly894=) c.2942G= (p.Gly981=) c.2912G= (p.Gly971=) c.2429G= (p.Gly810=) c.2324G= (p.Gly775=) | |
3 | g.122284866G>T | CA354161047 | CASR | c.2681G>T (p.Gly894Val) c.2942G>T (p.Gly981Val) c.2912G>T (p.Gly971Val) c.2429G>T (p.Gly810Val) c.2324G>T (p.Gly775Val) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284866_122284867delinsTT | CA2740094579 | CASR | c.2681_2682delinsTT (p.Gly894Val) c.2942_2943delinsTT (p.Gly981Val) c.2912_2913delinsTT (p.Gly971Val) c.2429_2430delinsTT (p.Gly810Val) c.2324_2325delinsTT (p.Gly775Val) | ClinVar |
3 | g.122284867C>A | CA435425725 | CASR | c.2682C>A (p.Gly894=) c.2943C>A (p.Gly981=) c.2913C>A (p.Gly971=) c.2430C>A (p.Gly810=) c.2325C>A (p.Gly775=) | |
3 | g.122284867C>G | CA435425723 | CASR | c.2682C>G (p.Gly894=) c.2943C>G (p.Gly981=) c.2913C>G (p.Gly971=) c.2430C>G (p.Gly810=) c.2325C>G (p.Gly775=) | |
3 | g.122284867C>T | CA435425724 | CASR | c.2682C>T (p.Gly894=) c.2943C>T (p.Gly981=) c.2913C>T (p.Gly971=) c.2430C>T (p.Gly810=) c.2325C>T (p.Gly775=) | |
3 | g.122284868A>C | CA354161048 | CASR | c.2683A>C (p.Thr895Pro) c.2944A>C (p.Thr982Pro) c.2914A>C (p.Thr972Pro) c.2431A>C (p.Thr811Pro) c.2326A>C (p.Thr776Pro) | |
3 | g.122284868A>G | CA354161050 | CASR | c.2683A>G (p.Thr895Ala) c.2944A>G (p.Thr982Ala) c.2914A>G (p.Thr972Ala) c.2431A>G (p.Thr811Ala) c.2326A>G (p.Thr776Ala) | |
3 | g.122284868A>T | CA354161049 | CASR | c.2683A>T (p.Thr895Ser) c.2944A>T (p.Thr982Ser) c.2914A>T (p.Thr972Ser) c.2431A>T (p.Thr811Ser) c.2326A>T (p.Thr776Ser) | |
3 | g.122284869C>A | CA354161051 | CASR | c.2684C>A (p.Thr895Lys) c.2945C>A (p.Thr982Lys) c.2915C>A (p.Thr972Lys) c.2432C>A (p.Thr811Lys) c.2327C>A (p.Thr776Lys) | |
3 | g.122284869C= | CA1397873013 | CASR | c.2684C= (p.Thr895=) c.2945C= (p.Thr982=) c.2915C= (p.Thr972=) c.2432C= (p.Thr811=) c.2327C= (p.Thr776=) | |
3 | g.122284869C>G | CA354161052 | CASR | c.2684C>G (p.Thr895Arg) c.2945C>G (p.Thr982Arg) c.2915C>G (p.Thr972Arg) c.2432C>G (p.Thr811Arg) c.2327C>G (p.Thr776Arg) | ClinVar |
3 | g.122284869C>T | CA2569889 | CASR | c.2684C>T (p.Thr895Met) c.2945C>T (p.Thr982Met) c.2915C>T (p.Thr972Met) c.2432C>T (p.Thr811Met) c.2327C>T (p.Thr776Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122284870G>A | CA2569890 | CASR | c.2685G>A (p.Thr895=) c.2946G>A (p.Thr982=) c.2916G>A (p.Thr972=) c.2433G>A (p.Thr811=) c.2328G>A (p.Thr776=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284870G>C | CA435425726 | CASR | c.2685G>C (p.Thr895=) c.2946G>C (p.Thr982=) c.2916G>C (p.Thr972=) c.2433G>C (p.Thr811=) c.2328G>C (p.Thr776=) | |
3 | g.122284870G= | CA1397873016 | CASR | c.2685G= (p.Thr895=) c.2946G= (p.Thr982=) c.2916G= (p.Thr972=) c.2433G= (p.Thr811=) c.2328G= (p.Thr776=) | |
3 | g.122284870G>T | CA435425727 | CASR | c.2685G>T (p.Thr895=) c.2946G>T (p.Thr982=) c.2916G>T (p.Thr972=) c.2433G>T (p.Thr811=) c.2328G>T (p.Thr776=) | |
3 | g.122284871G>A | CA354161053 | CASR | c.2686G>A (p.Val896Ile) c.2947G>A (p.Val983Ile) c.2917G>A (p.Val973Ile) c.2434G>A (p.Val812Ile) c.2329G>A (p.Val777Ile) | ClinVar dbSNP |
3 | g.122284871G>C | CA354161054 | CASR | c.2686G>C (p.Val896Leu) c.2947G>C (p.Val983Leu) c.2917G>C (p.Val973Leu) c.2434G>C (p.Val812Leu) c.2329G>C (p.Val777Leu) | |
3 | g.122284871G>T | CA354161055 | CASR | c.2686G>T (p.Val896Phe) c.2947G>T (p.Val983Phe) c.2917G>T (p.Val973Phe) c.2434G>T (p.Val812Phe) c.2329G>T (p.Val777Phe) | |
3 | g.122284872del | CA2667224771 | CASR | c.2687del (p.Val896AlafsTer5) c.2948del (p.Val983AlafsTer5) c.2918del (p.Val973AlafsTer5) c.2435del (p.Val812AlafsTer5) c.2330del (p.Val777AlafsTer5) | gnomAD v4 |
3 | g.122284872T>A | CA354161056 | CASR | c.2687T>A (p.Val896Asp) c.2948T>A (p.Val983Asp) c.2918T>A (p.Val973Asp) c.2435T>A (p.Val812Asp) c.2330T>A (p.Val777Asp) | |
3 | g.122284872T>C | CA354161057 | CASR | c.2687T>C (p.Val896Ala) c.2948T>C (p.Val983Ala) c.2918T>C (p.Val973Ala) c.2435T>C (p.Val812Ala) c.2330T>C (p.Val777Ala) | |
3 | g.122284872T>G | CA354161058 | CASR | c.2687T>G (p.Val896Gly) c.2948T>G (p.Val983Gly) c.2918T>G (p.Val973Gly) c.2435T>G (p.Val812Gly) c.2330T>G (p.Val777Gly) | |
3 | g.122284873C>A | CA82749344 | CASR | c.2688C>A (p.Val896=) c.2949C>A (p.Val983=) c.2919C>A (p.Val973=) c.2436C>A (p.Val812=) c.2331C>A (p.Val777=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284873C= | CA1397873019 | CASR | c.2688C= (p.Val896=) c.2949C= (p.Val983=) c.2919C= (p.Val973=) c.2436C= (p.Val812=) c.2331C= (p.Val777=) | |
3 | g.122284873C>G | CA435425730 | CASR | c.2688C>G (p.Val896=) c.2949C>G (p.Val983=) c.2919C>G (p.Val973=) c.2436C>G (p.Val812=) c.2331C>G (p.Val777=) | |
3 | g.122284873C>T | CA435425731 | CASR | c.2688C>T (p.Val896=) c.2949C>T (p.Val983=) c.2919C>T (p.Val973=) c.2436C>T (p.Val812=) c.2331C>T (p.Val777=) | ClinVar dbSNP gnomAD v2 |
3 | g.122284874A= | CA1397873022 | CASR | c.2689A= (p.Thr897=) c.2950A= (p.Thr984=) c.2920A= (p.Thr974=) c.2437A= (p.Thr813=) c.2332A= (p.Thr778=) | |
3 | g.122284874A>C | CA354161059 | CASR | c.2689A>C (p.Thr897Pro) c.2950A>C (p.Thr984Pro) c.2920A>C (p.Thr974Pro) c.2437A>C (p.Thr813Pro) c.2332A>C (p.Thr778Pro) | |
3 | g.122284874A>G | CA354161060 | CASR | c.2689A>G (p.Thr897Ala) c.2950A>G (p.Thr984Ala) c.2920A>G (p.Thr974Ala) c.2437A>G (p.Thr813Ala) c.2332A>G (p.Thr778Ala) | |
3 | g.122284874A>T | CA216132 | CASR | c.2689A>T (p.Thr897Ser) c.2950A>T (p.Thr984Ser) c.2920A>T (p.Thr974Ser) c.2437A>T (p.Thr813Ser) c.2332A>T (p.Thr778Ser) | ClinVar dbSNP |
3 | g.122284875C>A | CA354161061 | CASR | c.2690C>A (p.Thr897Asn) c.2951C>A (p.Thr984Asn) c.2921C>A (p.Thr974Asn) c.2438C>A (p.Thr813Asn) c.2333C>A (p.Thr778Asn) | |
3 | g.122284875C= | CA1397873024 | CASR | c.2690C= (p.Thr897=) c.2951C= (p.Thr984=) c.2921C= (p.Thr974=) c.2438C= (p.Thr813=) c.2333C= (p.Thr778=) | |
3 | g.122284875C>G | CA354161062 | CASR | c.2690C>G (p.Thr897Ser) c.2951C>G (p.Thr984Ser) c.2921C>G (p.Thr974Ser) c.2438C>G (p.Thr813Ser) c.2333C>G (p.Thr778Ser) | |
3 | g.122284875C>T | CA2569891 | CASR | c.2690C>T (p.Thr897Ile) c.2951C>T (p.Thr984Ile) c.2921C>T (p.Thr974Ile) c.2438C>T (p.Thr813Ile) c.2333C>T (p.Thr778Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284876C>A | CA435425733 | CASR | c.2691C>A (p.Thr897=) c.2952C>A (p.Thr984=) c.2922C>A (p.Thr974=) c.2439C>A (p.Thr813=) c.2334C>A (p.Thr778=) | |
3 | g.122284876C= | CA1397873026 | CASR | c.2691C= (p.Thr897=) c.2952C= (p.Thr984=) c.2922C= (p.Thr974=) c.2439C= (p.Thr813=) c.2334C= (p.Thr778=) | |
3 | g.122284876C>G | CA435425734 | CASR | c.2691C>G (p.Thr897=) c.2952C>G (p.Thr984=) c.2922C>G (p.Thr974=) c.2439C>G (p.Thr813=) c.2334C>G (p.Thr778=) | |
3 | g.122284876C>T | CA2569892 | CASR | c.2691C>T (p.Thr897=) c.2952C>T (p.Thr984=) c.2922C>T (p.Thr974=) c.2439C>T (p.Thr813=) c.2334C>T (p.Thr778=) | ClinVar dbSNP ExAC gnomAD v2 COSMIC |
3 | g.122284877T>A | CA354161063 | CASR | c.2692T>A (p.Phe898Ile) c.2953T>A (p.Phe985Ile) c.2923T>A (p.Phe975Ile) c.2440T>A (p.Phe814Ile) c.2335T>A (p.Phe779Ile) | |
3 | g.122284877T>C | CA354161064 | CASR | c.2692T>C (p.Phe898Leu) c.2953T>C (p.Phe985Leu) c.2923T>C (p.Phe975Leu) c.2440T>C (p.Phe814Leu) c.2335T>C (p.Phe779Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284877T>G | CA354161065 | CASR | c.2692T>G (p.Phe898Val) c.2953T>G (p.Phe985Val) c.2923T>G (p.Phe975Val) c.2440T>G (p.Phe814Val) c.2335T>G (p.Phe779Val) | |
3 | g.122284877T= | CA1397873027 | CASR | c.2692T= (p.Phe898=) c.2953T= (p.Phe985=) c.2923T= (p.Phe975=) c.2440T= (p.Phe814=) c.2335T= (p.Phe779=) | |
3 | g.122284878T>A | CA354161068 | CASR | c.2693T>A (p.Phe898Tyr) c.2954T>A (p.Phe985Tyr) c.2924T>A (p.Phe975Tyr) c.2441T>A (p.Phe814Tyr) c.2336T>A (p.Phe779Tyr) | |
3 | g.122284878T>C | CA354161066 | CASR | c.2693T>C (p.Phe898Ser) c.2954T>C (p.Phe985Ser) c.2924T>C (p.Phe975Ser) c.2441T>C (p.Phe814Ser) c.2336T>C (p.Phe779Ser) | |
3 | g.122284878T>G | CA354161067 | CASR | c.2693T>G (p.Phe898Cys) c.2954T>G (p.Phe985Cys) c.2924T>G (p.Phe975Cys) c.2441T>G (p.Phe814Cys) c.2336T>G (p.Phe779Cys) | |
3 | g.122284879C>A | CA354161069 | CASR | c.2694C>A (p.Phe898Leu) c.2955C>A (p.Phe985Leu) c.2925C>A (p.Phe975Leu) c.2442C>A (p.Phe814Leu) c.2337C>A (p.Phe779Leu) | |
3 | g.122284879C>G | CA354161070 | CASR | c.2694C>G (p.Phe898Leu) c.2955C>G (p.Phe985Leu) c.2925C>G (p.Phe975Leu) c.2442C>G (p.Phe814Leu) c.2337C>G (p.Phe779Leu) | |
3 | g.122284879C>T | CA435425736 | CASR | c.2694C>T (p.Phe898=) c.2955C>T (p.Phe985=) c.2925C>T (p.Phe975=) c.2442C>T (p.Phe814=) c.2337C>T (p.Phe779=) | |
3 | g.122284880T>A | CA354161071 | CASR | c.2695T>A (p.Ser899Thr) c.2956T>A (p.Ser986Thr) c.2926T>A (p.Ser976Thr) c.2443T>A (p.Ser815Thr) c.2338T>A (p.Ser780Thr) | |
3 | g.122284880T>C | CA354161072 | CASR | c.2695T>C (p.Ser899Pro) c.2956T>C (p.Ser986Pro) c.2926T>C (p.Ser976Pro) c.2443T>C (p.Ser815Pro) c.2338T>C (p.Ser780Pro) | |
3 | g.122284880T>G | CA354161073 | CASR | c.2695T>G (p.Ser899Ala) c.2956T>G (p.Ser986Ala) c.2926T>G (p.Ser976Ala) c.2443T>G (p.Ser815Ala) c.2338T>G (p.Ser780Ala) | |
3 | g.122284881C>A | CA354161074 | CASR | c.2696C>A (p.Ser899Ter) c.2957C>A (p.Ser986Ter) c.2927C>A (p.Ser976Ter) c.2444C>A (p.Ser815Ter) c.2339C>A (p.Ser780Ter) | |
3 | g.122284881C>G | CA354161076 | CASR | c.2696C>G (p.Ser899Ter) c.2957C>G (p.Ser986Ter) c.2927C>G (p.Ser976Ter) c.2444C>G (p.Ser815Ter) c.2339C>G (p.Ser780Ter) | |
3 | g.122284881C>T | CA354161075 | CASR | c.2696C>T (p.Ser899Leu) c.2957C>T (p.Ser986Leu) c.2927C>T (p.Ser976Leu) c.2444C>T (p.Ser815Leu) c.2339C>T (p.Ser780Leu) | |
3 | g.122284882A= | CA1397873029 | CASR | c.2697A= (p.Ser899=) c.2958A= (p.Ser986=) c.2928A= (p.Ser976=) c.2445A= (p.Ser815=) c.2340A= (p.Ser780=) | |
3 | g.122284882A>C | CA435425737 | CASR | c.2697A>C (p.Ser899=) c.2958A>C (p.Ser986=) c.2928A>C (p.Ser976=) c.2445A>C (p.Ser815=) c.2340A>C (p.Ser780=) | dbSNP gnomAD v4 |
3 | g.122284882A>G | CA435425738 | CASR | c.2697A>G (p.Ser899=) c.2958A>G (p.Ser986=) c.2928A>G (p.Ser976=) c.2445A>G (p.Ser815=) c.2340A>G (p.Ser780=) | |
3 | g.122284882A>T | CA2569893 | CASR | c.2697A>T (p.Ser899=) c.2958A>T (p.Ser986=) c.2928A>T (p.Ser976=) c.2445A>T (p.Ser815=) c.2340A>T (p.Ser780=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284883C>A | CA354161077 | CASR | c.2698C>A (p.Leu900Met) c.2959C>A (p.Leu987Met) c.2929C>A (p.Leu977Met) c.2446C>A (p.Leu816Met) c.2341C>A (p.Leu781Met) | |
3 | g.122284883C>G | CA354161078 | CASR | c.2698C>G (p.Leu900Val) c.2959C>G (p.Leu987Val) c.2929C>G (p.Leu977Val) c.2446C>G (p.Leu816Val) c.2341C>G (p.Leu781Val) | |
3 | g.122284883C>T | CA435425739 | CASR | c.2698C>T (p.Leu900=) c.2959C>T (p.Leu987=) c.2929C>T (p.Leu977=) c.2446C>T (p.Leu816=) c.2341C>T (p.Leu781=) | |
3 | g.122284884T>A | CA354161079 | CASR | c.2699T>A (p.Leu900Gln) c.2960T>A (p.Leu987Gln) c.2930T>A (p.Leu977Gln) c.2447T>A (p.Leu816Gln) c.2342T>A (p.Leu781Gln) | ClinVar |
3 | g.122284884T>C | CA354161080 | CASR | c.2699T>C (p.Leu900Pro) c.2960T>C (p.Leu987Pro) c.2930T>C (p.Leu977Pro) c.2447T>C (p.Leu816Pro) c.2342T>C (p.Leu781Pro) | |
3 | g.122284884T>G | CA354161081 | CASR | c.2699T>G (p.Leu900Arg) c.2960T>G (p.Leu987Arg) c.2930T>G (p.Leu977Arg) c.2447T>G (p.Leu816Arg) c.2342T>G (p.Leu781Arg) | ClinVar |
3 | g.122284885G>A | CA435425740 | CASR | c.2700G>A (p.Leu900=) c.2961G>A (p.Leu987=) c.2931G>A (p.Leu977=) c.2448G>A (p.Leu816=) c.2343G>A (p.Leu781=) | |
3 | g.122284885G>C | CA435425741 | CASR | c.2700G>C (p.Leu900=) c.2961G>C (p.Leu987=) c.2931G>C (p.Leu977=) c.2448G>C (p.Leu816=) c.2343G>C (p.Leu781=) | |
3 | g.122284885G>T | CA435425742 | CASR | c.2700G>T (p.Leu900=) c.2961G>T (p.Leu987=) c.2931G>T (p.Leu977=) c.2448G>T (p.Leu816=) c.2343G>T (p.Leu781=) | |
3 | g.122284886A>C | CA354161082 | CASR | c.2701A>C (p.Ser901Arg) c.2962A>C (p.Ser988Arg) c.2932A>C (p.Ser978Arg) c.2449A>C (p.Ser817Arg) c.2344A>C (p.Ser782Arg) | |
3 | g.122284886A>G | CA354161083 | CASR | c.2701A>G (p.Ser901Gly) c.2962A>G (p.Ser988Gly) c.2932A>G (p.Ser978Gly) c.2449A>G (p.Ser817Gly) c.2344A>G (p.Ser782Gly) | |
3 | g.122284886A>T | CA354161084 | CASR | c.2701A>T (p.Ser901Cys) c.2962A>T (p.Ser988Cys) c.2932A>T (p.Ser978Cys) c.2449A>T (p.Ser817Cys) c.2344A>T (p.Ser782Cys) | |
3 | g.122284887G>A | CA354161085 | CASR | c.2702G>A (p.Ser901Asn) c.2963G>A (p.Ser988Asn) c.2933G>A (p.Ser978Asn) c.2450G>A (p.Ser817Asn) c.2345G>A (p.Ser782Asn) | gnomAD v4 |
3 | g.122284887G>C | CA354161086 | CASR | c.2702G>C (p.Ser901Thr) c.2963G>C (p.Ser988Thr) c.2933G>C (p.Ser978Thr) c.2450G>C (p.Ser817Thr) c.2345G>C (p.Ser782Thr) | ClinVar gnomAD v4 |
3 | g.122284887G>T | CA354161087 | CASR | c.2702G>T (p.Ser901Ile) c.2963G>T (p.Ser988Ile) c.2933G>T (p.Ser978Ile) c.2450G>T (p.Ser817Ile) c.2345G>T (p.Ser782Ile) | |
3 | g.122284888C>A | CA354161088 | CASR | c.2703C>A (p.Ser901Arg) c.2964C>A (p.Ser988Arg) c.2934C>A (p.Ser978Arg) c.2451C>A (p.Ser817Arg) c.2346C>A (p.Ser782Arg) | gnomAD v4 |
3 | g.122284888C= | CA1397873030 | CASR | c.2703C= (p.Ser901=) c.2964C= (p.Ser988=) c.2934C= (p.Ser978=) c.2451C= (p.Ser817=) c.2346C= (p.Ser782=) | |
3 | g.122284888C>G | CA354161089 | CASR | c.2703C>G (p.Ser901Arg) c.2964C>G (p.Ser988Arg) c.2934C>G (p.Ser978Arg) c.2451C>G (p.Ser817Arg) c.2346C>G (p.Ser782Arg) | |
3 | g.122284888C>T | CA2569894 | CASR | c.2703C>T (p.Ser901=) c.2964C>T (p.Ser988=) c.2934C>T (p.Ser978=) c.2451C>T (p.Ser817=) c.2346C>T (p.Ser782=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284889T>A | CA354161090 | CASR | c.2704T>A (p.Phe902Ile) c.2965T>A (p.Phe989Ile) c.2935T>A (p.Phe979Ile) c.2452T>A (p.Phe818Ile) c.2347T>A (p.Phe783Ile) | |
3 | g.122284889T>C | CA354161091 | CASR | c.2704T>C (p.Phe902Leu) c.2965T>C (p.Phe989Leu) c.2935T>C (p.Phe979Leu) c.2452T>C (p.Phe818Leu) c.2347T>C (p.Phe783Leu) | |
3 | g.122284889T>G | CA354161092 | CASR | c.2704T>G (p.Phe902Val) c.2965T>G (p.Phe989Val) c.2935T>G (p.Phe979Val) c.2452T>G (p.Phe818Val) c.2347T>G (p.Phe783Val) | dbSNP |
3 | g.122284889T= | CA1397873032 | CASR | c.2704T= (p.Phe902=) c.2965T= (p.Phe989=) c.2935T= (p.Phe979=) c.2452T= (p.Phe818=) c.2347T= (p.Phe783=) | |
3 | g.122284890T>A | CA354161093 | CASR | c.2705T>A (p.Phe902Tyr) c.2966T>A (p.Phe989Tyr) c.2936T>A (p.Phe979Tyr) c.2453T>A (p.Phe818Tyr) c.2348T>A (p.Phe783Tyr) | |
3 | g.122284890T>C | CA354161094 | CASR | c.2705T>C (p.Phe902Ser) c.2966T>C (p.Phe989Ser) c.2936T>C (p.Phe979Ser) c.2453T>C (p.Phe818Ser) c.2348T>C (p.Phe783Ser) | COSMIC |
3 | g.122284890T>G | CA354161095 | CASR | c.2705T>G (p.Phe902Cys) c.2966T>G (p.Phe989Cys) c.2936T>G (p.Phe979Cys) c.2453T>G (p.Phe818Cys) c.2348T>G (p.Phe783Cys) | |
3 | g.122284891T>A | CA354161096 | CASR | c.2706T>A (p.Phe902Leu) c.2967T>A (p.Phe989Leu) c.2937T>A (p.Phe979Leu) c.2454T>A (p.Phe818Leu) c.2349T>A (p.Phe783Leu) | |
3 | g.122284891T>C | CA435425748 | CASR | c.2706T>C (p.Phe902=) c.2967T>C (p.Phe989=) c.2937T>C (p.Phe979=) c.2454T>C (p.Phe818=) c.2349T>C (p.Phe783=) | |
3 | g.122284891T>G | CA354161097 | CASR | c.2706T>G (p.Phe902Leu) c.2967T>G (p.Phe989Leu) c.2937T>G (p.Phe979Leu) c.2454T>G (p.Phe818Leu) c.2349T>G (p.Phe783Leu) | |
3 | g.122284892G>A | CA354161098 | CASR | c.2707G>A (p.Asp903Asn) c.2968G>A (p.Asp990Asn) c.2938G>A (p.Asp980Asn) c.2455G>A (p.Asp819Asn) c.2350G>A (p.Asp784Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284892G>C | CA354161099 | CASR | c.2707G>C (p.Asp903His) c.2968G>C (p.Asp990His) c.2938G>C (p.Asp980His) c.2455G>C (p.Asp819His) c.2350G>C (p.Asp784His) | COSMIC |
3 | g.122284892G= | CA1397873033 | CASR | c.2707G= (p.Asp903=) c.2968G= (p.Asp990=) c.2938G= (p.Asp980=) c.2455G= (p.Asp819=) c.2350G= (p.Asp784=) | |
3 | g.122284892G>T | CA354161100 | CASR | c.2707G>T (p.Asp903Tyr) c.2968G>T (p.Asp990Tyr) c.2938G>T (p.Asp980Tyr) c.2455G>T (p.Asp819Tyr) c.2350G>T (p.Asp784Tyr) | |
3 | g.122284893A>C | CA354161103 | CASR | c.2708A>C (p.Asp903Ala) c.2969A>C (p.Asp990Ala) c.2939A>C (p.Asp980Ala) c.2456A>C (p.Asp819Ala) c.2351A>C (p.Asp784Ala) | |
3 | g.122284893A>G | CA354161102 | CASR | c.2708A>G (p.Asp903Gly) c.2969A>G (p.Asp990Gly) c.2939A>G (p.Asp980Gly) c.2456A>G (p.Asp819Gly) c.2351A>G (p.Asp784Gly) | ClinVar |
3 | g.122284893A>T | CA354161101 | CASR | c.2708A>T (p.Asp903Val) c.2969A>T (p.Asp990Val) c.2939A>T (p.Asp980Val) c.2456A>T (p.Asp819Val) c.2351A>T (p.Asp784Val) | |
3 | g.122284894T>A | CA354161104 | CASR | c.2709T>A (p.Asp903Glu) c.2970T>A (p.Asp990Glu) c.2940T>A (p.Asp980Glu) c.2457T>A (p.Asp819Glu) c.2352T>A (p.Asp784Glu) | |
3 | g.122284894T>C | CA435425751 | CASR | c.2709T>C (p.Asp903=) c.2970T>C (p.Asp990=) c.2940T>C (p.Asp980=) c.2457T>C (p.Asp819=) c.2352T>C (p.Asp784=) | |
3 | g.122284894T>G | CA354161105 | CASR | c.2709T>G (p.Asp903Glu) c.2970T>G (p.Asp990Glu) c.2940T>G (p.Asp980Glu) c.2457T>G (p.Asp819Glu) c.2352T>G (p.Asp784Glu) | gnomAD v4 |
3 | g.122284895G>A | CA354161106 | CASR | c.2710G>A (p.Glu904Lys) c.2971G>A (p.Glu991Lys) c.2941G>A (p.Glu981Lys) c.2458G>A (p.Glu820Lys) c.2353G>A (p.Glu785Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122284895G>C | CA354161107 | CASR | c.2710G>C (p.Glu904Gln) c.2971G>C (p.Glu991Gln) c.2941G>C (p.Glu981Gln) c.2458G>C (p.Glu820Gln) c.2353G>C (p.Glu785Gln) | |
3 | g.122284895G= | CA1397873034 | CASR | c.2710G= (p.Glu904=) c.2971G= (p.Glu991=) c.2941G= (p.Glu981=) c.2458G= (p.Glu820=) c.2353G= (p.Glu785=) | |
3 | g.122284895G>T | CA354161108 | CASR | c.2710G>T (p.Glu904Ter) c.2971G>T (p.Glu991Ter) c.2941G>T (p.Glu981Ter) c.2458G>T (p.Glu820Ter) c.2353G>T (p.Glu785Ter) | |
3 | g.122284896A= | CA1397873037 | CASR | c.2711A= (p.Glu904=) c.2972A= (p.Glu991=) c.2942A= (p.Glu981=) c.2459A= (p.Glu820=) c.2354A= (p.Glu785=) | |
3 | g.122284896A>C | CA354161109 | CASR | c.2711A>C (p.Glu904Ala) c.2972A>C (p.Glu991Ala) c.2942A>C (p.Glu981Ala) c.2459A>C (p.Glu820Ala) c.2354A>C (p.Glu785Ala) | |
3 | g.122284896A>G | CA82749358 | CASR | c.2711A>G (p.Glu904Gly) c.2972A>G (p.Glu991Gly) c.2942A>G (p.Glu981Gly) c.2459A>G (p.Glu820Gly) c.2354A>G (p.Glu785Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284896A>T | CA354161110 | CASR | c.2711A>T (p.Glu904Val) c.2972A>T (p.Glu991Val) c.2942A>T (p.Glu981Val) c.2459A>T (p.Glu820Val) c.2354A>T (p.Glu785Val) | ClinVar dbSNP |
3 | g.122284897G>A | CA435425755 | CASR | c.2712G>A (p.Glu904=) c.2973G>A (p.Glu991=) c.2943G>A (p.Glu981=) c.2460G>A (p.Glu820=) c.2355G>A (p.Glu785=) | |
3 | g.122284897G>C | CA354161111 | CASR | c.2712G>C (p.Glu904Asp) c.2973G>C (p.Glu991Asp) c.2943G>C (p.Glu981Asp) c.2460G>C (p.Glu820Asp) c.2355G>C (p.Glu785Asp) | gnomAD v4 |
3 | g.122284897G>T | CA354161112 | CASR | c.2712G>T (p.Glu904Asp) c.2973G>T (p.Glu991Asp) c.2943G>T (p.Glu981Asp) c.2460G>T (p.Glu820Asp) c.2355G>T (p.Glu785Asp) | |
3 | g.122284899_122284973del | CA2667224801 | CASR | c.2714_2788del (p.Pro905_Thr929del) c.2975_3049del (p.Pro992_Thr1016del) c.2945_3019del (p.Pro982_Thr1006del) c.2462_2536del (p.Pro821_Thr845del) c.2357_2431del (p.Pro786_Thr810del) | gnomAD v4 |
3 | g.122284898C>A | CA354161113 | CASR | c.2713C>A (p.Pro905Thr) c.2974C>A (p.Pro992Thr) c.2944C>A (p.Pro982Thr) c.2461C>A (p.Pro821Thr) c.2356C>A (p.Pro786Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284898C= | CA1397873041 | CASR | c.2713C= (p.Pro905=) c.2974C= (p.Pro992=) c.2944C= (p.Pro982=) c.2461C= (p.Pro821=) c.2356C= (p.Pro786=) | |
3 | g.122284898C>G | CA354161114 | CASR | c.2713C>G (p.Pro905Ala) c.2974C>G (p.Pro992Ala) c.2944C>G (p.Pro982Ala) c.2461C>G (p.Pro821Ala) c.2356C>G (p.Pro786Ala) | |
3 | g.122284898C>T | CA216134 | CASR | c.2713C>T (p.Pro905Ser) c.2974C>T (p.Pro992Ser) c.2944C>T (p.Pro982Ser) c.2461C>T (p.Pro821Ser) c.2356C>T (p.Pro786Ser) | ClinVar dbSNP |
3 | g.122284899C>A | CA354161116 | CASR | c.2714C>A (p.Pro905His) c.2975C>A (p.Pro992His) c.2945C>A (p.Pro982His) c.2462C>A (p.Pro821His) c.2357C>A (p.Pro786His) | |
3 | g.122284899C>G | CA354161117 | CASR | c.2714C>G (p.Pro905Arg) c.2975C>G (p.Pro992Arg) c.2945C>G (p.Pro982Arg) c.2462C>G (p.Pro821Arg) c.2357C>G (p.Pro786Arg) | ClinVar |
3 | g.122284899C>T | CA354161115 | CASR | c.2714C>T (p.Pro905Leu) c.2975C>T (p.Pro992Leu) c.2945C>T (p.Pro982Leu) c.2462C>T (p.Pro821Leu) c.2357C>T (p.Pro786Leu) | |
3 | g.122284899_122284900delinsCT | CA1397873045 | CASR | c.2714_2715delinsCT (p.Pro905=) c.2975_2976delinsCT (p.Pro992=) c.2945_2946delinsCT (p.Pro982=) c.2462_2463delinsCT (p.Pro821=) c.2357_2358delinsCT (p.Pro786=) | |
3 | g.122284900del | CA2569895 | CASR | c.2715del (p.Gln906ArgfsTer25) c.2976del (p.Gln993ArgfsTer25) c.2946del (p.Gln983ArgfsTer25) c.2463del (p.Gln822ArgfsTer25) c.2358del (p.Gln787ArgfsTer25) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284900T>A | CA435425759 | CASR | c.2715T>A (p.Pro905=) c.2976T>A (p.Pro992=) c.2946T>A (p.Pro982=) c.2463T>A (p.Pro821=) c.2358T>A (p.Pro786=) | |
3 | g.122284900T>C | CA435425758 | CASR | c.2715T>C (p.Pro905=) c.2976T>C (p.Pro992=) c.2946T>C (p.Pro982=) c.2463T>C (p.Pro821=) c.2358T>C (p.Pro786=) | |
3 | g.122284900T>G | CA435425757 | CASR | c.2715T>G (p.Pro905=) c.2976T>G (p.Pro992=) c.2946T>G (p.Pro982=) c.2463T>G (p.Pro821=) c.2358T>G (p.Pro786=) | ClinVar |
3 | g.122284901C>A | CA354161118 | CASR | c.2716C>A (p.Gln906Lys) c.2977C>A (p.Gln993Lys) c.2947C>A (p.Gln983Lys) c.2464C>A (p.Gln822Lys) c.2359C>A (p.Gln787Lys) | |
3 | g.122284901C>G | CA354161120 | CASR | c.2716C>G (p.Gln906Glu) c.2977C>G (p.Gln993Glu) c.2947C>G (p.Gln983Glu) c.2464C>G (p.Gln822Glu) c.2359C>G (p.Gln787Glu) | COSMIC |
3 | g.122284901C>T | CA354161119 | CASR | c.2716C>T (p.Gln906Ter) c.2977C>T (p.Gln993Ter) c.2947C>T (p.Gln983Ter) c.2464C>T (p.Gln822Ter) c.2359C>T (p.Gln787Ter) | |
3 | g.122284901_122284904delinsCAGA | CA1397873047 | CASR | c.2716_2719delinsCAGA (p.Gln906=) c.2977_2980delinsCAGA (p.Gln993=) c.2947_2950delinsCAGA (p.Gln983=) c.2464_2467delinsCAGA (p.Gln822=) c.2359_2362delinsCAGA (p.Gln787=) | |
3 | g.122284902A= | CA1397873049 | CASR | c.2717A= (p.Gln906=) c.2978A= (p.Gln993=) c.2948A= (p.Gln983=) c.2465A= (p.Gln822=) c.2360A= (p.Gln787=) | |
3 | g.122284902A>C | CA354161121 | CASR | c.2717A>C (p.Gln906Pro) c.2978A>C (p.Gln993Pro) c.2948A>C (p.Gln983Pro) c.2465A>C (p.Gln822Pro) c.2360A>C (p.Gln787Pro) | |
3 | g.122284902A>G | CA10582123 | CASR | c.2717A>G (p.Gln906Arg) c.2978A>G (p.Gln993Arg) c.2948A>G (p.Gln983Arg) c.2465A>G (p.Gln822Arg) c.2360A>G (p.Gln787Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.122284902A>T | CA354161122 | CASR | c.2717A>T (p.Gln906Leu) c.2978A>T (p.Gln993Leu) c.2948A>T (p.Gln983Leu) c.2465A>T (p.Gln822Leu) c.2360A>T (p.Gln787Leu) | |
3 | g.122284906_122284908del | CA2569896 | CASR | c.2721_2723del (p.Lys907del) c.2982_2984del (p.Lys994del) c.2952_2954del (p.Lys984del) c.2469_2471del (p.Lys823del) c.2364_2366del (p.Lys788del) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.122284903G>A | CA435425760 | CASR | c.2718G>A (p.Gln906=) c.2979G>A (p.Gln993=) c.2949G>A (p.Gln983=) c.2466G>A (p.Gln822=) c.2361G>A (p.Gln787=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284903G>C | CA354161124 | CASR | c.2718G>C (p.Gln906His) c.2979G>C (p.Gln993His) c.2949G>C (p.Gln983His) c.2466G>C (p.Gln822His) c.2361G>C (p.Gln787His) | |
3 | g.122284903G= | CA1397873051 | CASR | c.2718G= (p.Gln906=) c.2979G= (p.Gln993=) c.2949G= (p.Gln983=) c.2466G= (p.Gln822=) c.2361G= (p.Gln787=) | |
3 | g.122284903G>T | CA354161123 | CASR | c.2718G>T (p.Gln906His) c.2979G>T (p.Gln993His) c.2949G>T (p.Gln983His) c.2466G>T (p.Gln822His) c.2361G>T (p.Gln787His) | |
3 | g.122284904A>C | CA354161127 | CASR | c.2719A>C (p.Lys907Gln) c.2980A>C (p.Lys994Gln) c.2950A>C (p.Lys984Gln) c.2467A>C (p.Lys823Gln) c.2362A>C (p.Lys788Gln) | |
3 | g.122284904A>G | CA354161125 | CASR | c.2719A>G (p.Lys907Glu) c.2980A>G (p.Lys994Glu) c.2950A>G (p.Lys984Glu) c.2467A>G (p.Lys823Glu) c.2362A>G (p.Lys788Glu) | |
3 | g.122284904A>T | CA354161126 | CASR | c.2719A>T (p.Lys907Ter) c.2980A>T (p.Lys994Ter) c.2950A>T (p.Lys984Ter) c.2467A>T (p.Lys823Ter) c.2362A>T (p.Lys788Ter) | |
3 | g.122284905A= | CA1397873052 | CASR | c.2720A= (p.Lys907=) c.2981A= (p.Lys994=) c.2951A= (p.Lys984=) c.2468A= (p.Lys823=) c.2363A= (p.Lys788=) | |
3 | g.122284905A>C | CA354161128 | CASR | c.2720A>C (p.Lys907Thr) c.2981A>C (p.Lys994Thr) c.2951A>C (p.Lys984Thr) c.2468A>C (p.Lys823Thr) c.2363A>C (p.Lys788Thr) | |
3 | g.122284905A>G | CA354161129 | CASR | c.2720A>G (p.Lys907Arg) c.2981A>G (p.Lys994Arg) c.2951A>G (p.Lys984Arg) c.2468A>G (p.Lys823Arg) c.2363A>G (p.Lys788Arg) | ClinVar dbSNP |
3 | g.122284905A>T | CA354161130 | CASR | c.2720A>T (p.Lys907Met) c.2981A>T (p.Lys994Met) c.2951A>T (p.Lys984Met) c.2468A>T (p.Lys823Met) c.2363A>T (p.Lys788Met) | ClinVar |
3 | g.122284906G>A | CA435425763 | CASR | c.2721G>A (p.Lys907=) c.2982G>A (p.Lys994=) c.2952G>A (p.Lys984=) c.2469G>A (p.Lys823=) c.2364G>A (p.Lys788=) | ClinVar dbSNP |
3 | g.122284906G>C | CA354161131 | CASR | c.2721G>C (p.Lys907Asn) c.2982G>C (p.Lys994Asn) c.2952G>C (p.Lys984Asn) c.2469G>C (p.Lys823Asn) c.2364G>C (p.Lys788Asn) | ClinVar |
3 | g.122284906G>T | CA354161132 | CASR | c.2721G>T (p.Lys907Asn) c.2982G>T (p.Lys994Asn) c.2952G>T (p.Lys984Asn) c.2469G>T (p.Lys823Asn) c.2364G>T (p.Lys788Asn) | ClinVar |
3 | g.122284907A>C | CA354161133 | CASR | c.2722A>C (p.Asn908His) c.2983A>C (p.Asn995His) c.2953A>C (p.Asn985His) c.2470A>C (p.Asn824His) c.2365A>C (p.Asn789His) | |
3 | g.122284907A>G | CA354161134 | CASR | c.2722A>G (p.Asn908Asp) c.2983A>G (p.Asn995Asp) c.2953A>G (p.Asn985Asp) c.2470A>G (p.Asn824Asp) c.2365A>G (p.Asn789Asp) | |
3 | g.122284907A>T | CA354161135 | CASR | c.2722A>T (p.Asn908Tyr) c.2983A>T (p.Asn995Tyr) c.2953A>T (p.Asn985Tyr) c.2470A>T (p.Asn824Tyr) c.2365A>T (p.Asn789Tyr) | |
3 | g.122284908A= | CA1397873054 | CASR | c.2723A= (p.Asn908=) c.2984A= (p.Asn995=) c.2954A= (p.Asn985=) c.2471A= (p.Asn824=) c.2366A= (p.Asn789=) | |
3 | g.122284908A>C | CA2569897 | CASR | c.2723A>C (p.Asn908Thr) c.2984A>C (p.Asn995Thr) c.2954A>C (p.Asn985Thr) c.2471A>C (p.Asn824Thr) c.2366A>C (p.Asn789Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284908A>G | CA354161136 | CASR | c.2723A>G (p.Asn908Ser) c.2984A>G (p.Asn995Ser) c.2954A>G (p.Asn985Ser) c.2471A>G (p.Asn824Ser) c.2366A>G (p.Asn789Ser) | |
3 | g.122284908A>T | CA354161137 | CASR | c.2723A>T (p.Asn908Ile) c.2984A>T (p.Asn995Ile) c.2954A>T (p.Asn985Ile) c.2471A>T (p.Asn824Ile) c.2366A>T (p.Asn789Ile) | |
3 | g.122284909C>A | CA354161139 | CASR | c.2724C>A (p.Asn908Lys) c.2985C>A (p.Asn995Lys) c.2955C>A (p.Asn985Lys) c.2472C>A (p.Asn824Lys) c.2367C>A (p.Asn789Lys) | |
3 | g.122284909C= | CA1397873056 | CASR | c.2724C= (p.Asn908=) c.2985C= (p.Asn995=) c.2955C= (p.Asn985=) c.2472C= (p.Asn824=) c.2367C= (p.Asn789=) | |
3 | g.122284909C>G | CA354161138 | CASR | c.2724C>G (p.Asn908Lys) c.2985C>G (p.Asn995Lys) c.2955C>G (p.Asn985Lys) c.2472C>G (p.Asn824Lys) c.2367C>G (p.Asn789Lys) | ClinVar gnomAD v4 |
3 | g.122284909C>T | CA2569898 | CASR | c.2724C>T (p.Asn908=) c.2985C>T (p.Asn995=) c.2955C>T (p.Asn985=) c.2472C>T (p.Asn824=) c.2367C>T (p.Asn789=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284909_122284910delinsTT | CA2499216416 | CASR | c.2724_2725delinsTT (p.Ala909Ser) c.2985_2986delinsTT (p.Ala996Ser) c.2955_2956delinsTT (p.Ala986Ser) c.2472_2473delinsTT (p.Ala825Ser) c.2367_2368delinsTT (p.Ala790Ser) | ClinVar dbSNP |
3 | g.122284910G>A | CA354161140 | CASR | c.2725G>A (p.Ala909Thr) c.2986G>A (p.Ala996Thr) c.2956G>A (p.Ala986Thr) c.2473G>A (p.Ala825Thr) c.2368G>A (p.Ala790Thr) | ClinVar dbSNP gnomAD v4 |
3 | g.122284910G>C | CA354161141 | CASR | c.2725G>C (p.Ala909Pro) c.2986G>C (p.Ala996Pro) c.2956G>C (p.Ala986Pro) c.2473G>C (p.Ala825Pro) c.2368G>C (p.Ala790Pro) | |
3 | g.122284910G= | CA1397873060 | CASR | c.2725G= (p.Ala909=) c.2986G= (p.Ala996=) c.2956G= (p.Ala986=) c.2473G= (p.Ala825=) c.2368G= (p.Ala790=) | |
3 | g.122284910G>T | CA119531 | CASR | c.2725G>T (p.Ala909Ser) c.2986G>T (p.Ala996Ser) c.2956G>T (p.Ala986Ser) c.2473G>T (p.Ala825Ser) c.2368G>T (p.Ala790Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284911C>A | CA354161142 | CASR | c.2726C>A (p.Ala909Asp) c.2987C>A (p.Ala996Asp) c.2957C>A (p.Ala986Asp) c.2474C>A (p.Ala825Asp) c.2369C>A (p.Ala790Asp) | ClinVar dbSNP |
3 | g.122284911C= | CA1397873062 | CASR | c.2726C= (p.Ala909=) c.2987C= (p.Ala996=) c.2957C= (p.Ala986=) c.2474C= (p.Ala825=) c.2369C= (p.Ala790=) | |
3 | g.122284911C>G | CA354161143 | CASR | c.2726C>G (p.Ala909Gly) c.2987C>G (p.Ala996Gly) c.2957C>G (p.Ala986Gly) c.2474C>G (p.Ala825Gly) c.2369C>G (p.Ala790Gly) | |
3 | g.122284911C>T | CA354161144 | CASR | c.2726C>T (p.Ala909Val) c.2987C>T (p.Ala996Val) c.2957C>T (p.Ala986Val) c.2474C>T (p.Ala825Val) c.2369C>T (p.Ala790Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284912C>A | CA435425769 | CASR | c.2727C>A (p.Ala909=) c.2988C>A (p.Ala996=) c.2958C>A (p.Ala986=) c.2475C>A (p.Ala825=) c.2370C>A (p.Ala790=) | |
3 | g.122284912C>G | CA435425770 | CASR | c.2727C>G (p.Ala909=) c.2988C>G (p.Ala996=) c.2958C>G (p.Ala986=) c.2475C>G (p.Ala825=) c.2370C>G (p.Ala790=) | |
3 | g.122284912C>T | CA435425771 | CASR | c.2727C>T (p.Ala909=) c.2988C>T (p.Ala996=) c.2958C>T (p.Ala986=) c.2475C>T (p.Ala825=) c.2370C>T (p.Ala790=) | |
3 | g.122284913A>C | CA354161145 | CASR | c.2728A>C (p.Met910Leu) c.2989A>C (p.Met997Leu) c.2959A>C (p.Met987Leu) c.2476A>C (p.Met826Leu) c.2371A>C (p.Met791Leu) | |
3 | g.122284913A>G | CA354161146 | CASR | c.2728A>G (p.Met910Val) c.2989A>G (p.Met997Val) c.2959A>G (p.Met987Val) c.2476A>G (p.Met826Val) c.2371A>G (p.Met791Val) | ClinVar dbSNP gnomAD v4 |
3 | g.122284913A>T | CA354161147 | CASR | c.2728A>T (p.Met910Leu) c.2989A>T (p.Met997Leu) c.2959A>T (p.Met987Leu) c.2476A>T (p.Met826Leu) c.2371A>T (p.Met791Leu) | |
3 | g.122284914T>A | CA354161148 | CASR | c.2729T>A (p.Met910Lys) c.2990T>A (p.Met997Lys) c.2960T>A (p.Met987Lys) c.2477T>A (p.Met826Lys) c.2372T>A (p.Met791Lys) | |
3 | g.122284914T>C | CA354161149 | CASR | c.2729T>C (p.Met910Thr) c.2990T>C (p.Met997Thr) c.2960T>C (p.Met987Thr) c.2477T>C (p.Met826Thr) c.2372T>C (p.Met791Thr) | |
3 | g.122284914T>G | CA354161150 | CASR | c.2729T>G (p.Met910Arg) c.2990T>G (p.Met997Arg) c.2960T>G (p.Met987Arg) c.2477T>G (p.Met826Arg) c.2372T>G (p.Met791Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.122284914T= | CA1397873063 | CASR | c.2729T= (p.Met910=) c.2990T= (p.Met997=) c.2960T= (p.Met987=) c.2477T= (p.Met826=) c.2372T= (p.Met791=) | |
3 | g.122284915G>A | CA354161151 | CASR | c.2730G>A (p.Met910Ile) c.2991G>A (p.Met997Ile) c.2961G>A (p.Met987Ile) c.2478G>A (p.Met826Ile) c.2373G>A (p.Met791Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284915G>C | CA354161153 | CASR | c.2730G>C (p.Met910Ile) c.2991G>C (p.Met997Ile) c.2961G>C (p.Met987Ile) c.2478G>C (p.Met826Ile) c.2373G>C (p.Met791Ile) | |
3 | g.122284915G= | CA1397873065 | CASR | c.2730G= (p.Met910=) c.2991G= (p.Met997=) c.2961G= (p.Met987=) c.2478G= (p.Met826=) c.2373G= (p.Met791=) | |
3 | g.122284915G>T | CA354161152 | CASR | c.2730G>T (p.Met910Ile) c.2991G>T (p.Met997Ile) c.2961G>T (p.Met987Ile) c.2478G>T (p.Met826Ile) c.2373G>T (p.Met791Ile) | |
3 | g.122284916G>A | CA82749374 | CASR | c.2731G>A (p.Ala911Thr) c.2992G>A (p.Ala998Thr) c.2962G>A (p.Ala988Thr) c.2479G>A (p.Ala827Thr) c.2374G>A (p.Ala792Thr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284916G>C | CA354161154 | CASR | c.2731G>C (p.Ala911Pro) c.2992G>C (p.Ala998Pro) c.2962G>C (p.Ala988Pro) c.2479G>C (p.Ala827Pro) c.2374G>C (p.Ala792Pro) | |
3 | g.122284916G= | CA1397873067 | CASR | c.2731G= (p.Ala911=) c.2992G= (p.Ala998=) c.2962G= (p.Ala988=) c.2479G= (p.Ala827=) c.2374G= (p.Ala792=) | |
3 | g.122284916G>T | CA354161155 | CASR | c.2731G>T (p.Ala911Ser) c.2992G>T (p.Ala998Ser) c.2962G>T (p.Ala988Ser) c.2479G>T (p.Ala827Ser) c.2374G>T (p.Ala792Ser) | |
3 | g.122284917C>A | CA354161156 | CASR | c.2732C>A (p.Ala911Asp) c.2993C>A (p.Ala998Asp) c.2963C>A (p.Ala988Asp) c.2480C>A (p.Ala827Asp) c.2375C>A (p.Ala792Asp) | |
3 | g.122284917C= | CA1397873068 | CASR | c.2732C= (p.Ala911=) c.2993C= (p.Ala998=) c.2963C= (p.Ala988=) c.2480C= (p.Ala827=) c.2375C= (p.Ala792=) | |
3 | g.122284917C>G | CA354161157 | CASR | c.2732C>G (p.Ala911Gly) c.2993C>G (p.Ala998Gly) c.2963C>G (p.Ala988Gly) c.2480C>G (p.Ala827Gly) c.2375C>G (p.Ala792Gly) | |
3 | g.122284917C>T | CA2569899 | CASR | c.2732C>T (p.Ala911Val) c.2993C>T (p.Ala998Val) c.2963C>T (p.Ala988Val) c.2480C>T (p.Ala827Val) c.2375C>T (p.Ala792Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284918C>A | CA435425776 | CASR | c.2733C>A (p.Ala911=) c.2994C>A (p.Ala998=) c.2964C>A (p.Ala988=) c.2481C>A (p.Ala827=) c.2376C>A (p.Ala792=) | |
3 | g.122284918C= | CA1397873070 | CASR | c.2733C= (p.Ala911=) c.2994C= (p.Ala998=) c.2964C= (p.Ala988=) c.2481C= (p.Ala827=) c.2376C= (p.Ala792=) | |
3 | g.122284918C>G | CA82749380 | CASR | c.2733C>G (p.Ala911=) c.2994C>G (p.Ala998=) c.2964C>G (p.Ala988=) c.2481C>G (p.Ala827=) c.2376C>G (p.Ala792=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284918C>T | CA435425777 | CASR | c.2733C>T (p.Ala911=) c.2994C>T (p.Ala998=) c.2964C>T (p.Ala988=) c.2481C>T (p.Ala827=) c.2376C>T (p.Ala792=) | |
3 | g.122284919C>A | CA354161158 | CASR | c.2734C>A (p.His912Asn) c.2995C>A (p.His999Asn) c.2965C>A (p.His989Asn) c.2482C>A (p.His828Asn) c.2377C>A (p.His793Asn) | dbSNP gnomAD v4 |
3 | g.122284919C= | CA1397873072 | CASR | c.2734C= (p.His912=) c.2995C= (p.His999=) c.2965C= (p.His989=) c.2482C= (p.His828=) c.2377C= (p.His793=) | |
3 | g.122284919C>G | CA354161159 | CASR | c.2734C>G (p.His912Asp) c.2995C>G (p.His999Asp) c.2965C>G (p.His989Asp) c.2482C>G (p.His828Asp) c.2377C>G (p.His793Asp) | |
3 | g.122284919C>T | CA354161160 | CASR | c.2734C>T (p.His912Tyr) c.2995C>T (p.His999Tyr) c.2965C>T (p.His989Tyr) c.2482C>T (p.His828Tyr) c.2377C>T (p.His793Tyr) | ClinVar dbSNP gnomAD v4 |
3 | g.122284920A= | CA1397873073 | CASR | c.2735A= (p.His912=) c.2996A= (p.His999=) c.2966A= (p.His989=) c.2483A= (p.His828=) c.2378A= (p.His793=) | |
3 | g.122284920A>C | CA354161161 | CASR | c.2735A>C (p.His912Pro) c.2996A>C (p.His999Pro) c.2966A>C (p.His989Pro) c.2483A>C (p.His828Pro) c.2378A>C (p.His793Pro) | |
3 | g.122284920A>G | CA354161162 | CASR | c.2735A>G (p.His912Arg) c.2996A>G (p.His999Arg) c.2966A>G (p.His989Arg) c.2483A>G (p.His828Arg) c.2378A>G (p.His793Arg) | dbSNP gnomAD v4 |
3 | g.122284920A>T | CA354161163 | CASR | c.2735A>T (p.His912Leu) c.2996A>T (p.His999Leu) c.2966A>T (p.His989Leu) c.2483A>T (p.His828Leu) c.2378A>T (p.His793Leu) |