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.122284734_122284811dup | CA915941534 | CASR | c.2549_2626dup (p.Gln875_Gln876insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) c.2810_2887dup (p.Gln962_Gln963insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) c.2780_2857dup (p.Gln952_Gln953insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) c.2297_2374dup (p.Gln791_Gln792insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) c.2192_2269dup (p.Gln756_Gln757insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) | ClinVar dbSNP gnomAD v4 |
3 | g.122284758_122284790dup | CA1397872910 | CASR | c.2573_2605dup (p.Gln868_Gln869insProLeuAlaLeuThrGlnGlnGluGlnGlnGln) c.2834_2866dup (p.Gln955_Gln956insProLeuAlaLeuThrGlnGlnGluGlnGlnGln) c.2804_2836dup (p.Gln945_Gln946insProLeuAlaLeuThrGlnGlnGluGlnGlnGln) c.2321_2353dup (p.Gln784_Gln785insProLeuAlaLeuThrGlnGlnGluGlnGlnGln) c.2216_2248dup (p.Gln749_Gln750insProLeuAlaLeuThrGlnGlnGluGlnGlnGln) | ClinVar dbSNP gnomAD v4 |
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.122284791_122284793dup | CA2569872 | CASR | c.2606_2608dup (p.Gln869_Pro870insGln) c.2867_2869dup (p.Gln956_Pro957insGln) c.2837_2839dup (p.Gln946_Pro947insGln) c.2354_2356dup (p.Gln785_Pro786insGln) c.2249_2251dup (p.Gln750_Pro751insGln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284788_122284793dup | CA2740094577 | CASR | c.2603_2608dup (p.Gln869_Pro870insGlnGln) c.2864_2869dup (p.Gln956_Pro957insGlnGln) c.2834_2839dup (p.Gln946_Pro947insGlnGln) c.2351_2356dup (p.Gln785_Pro786insGlnGln) c.2246_2251dup (p.Gln750_Pro751insGlnGln) | ClinVar |
3 | g.122284791_122284793del | CA2569871 | CASR | c.2606_2608del (p.Gln869del) c.2867_2869del (p.Gln956del) c.2837_2839del (p.Gln946del) c.2354_2356del (p.Gln785del) c.2249_2251del (p.Gln750del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284783G>A | CA2569873 | CASR | c.2598G>A (p.Gln866=) c.2859G>A (p.Gln953=) c.2829G>A (p.Gln943=) c.2346G>A (p.Gln782=) c.2241G>A (p.Gln747=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284783G>C | CA354160861 | CASR | c.2598G>C (p.Gln866His) c.2859G>C (p.Gln953His) c.2829G>C (p.Gln943His) c.2346G>C (p.Gln782His) c.2241G>C (p.Gln747His) | |
3 | g.122284783G= | CA1397872948 | CASR | c.2598G= (p.Gln866=) c.2859G= (p.Gln953=) c.2829G= (p.Gln943=) c.2346G= (p.Gln782=) c.2241G= (p.Gln747=) | |
3 | g.122284783G>T | CA354160862 | CASR | c.2598G>T (p.Gln866His) c.2859G>T (p.Gln953His) c.2829G>T (p.Gln943His) c.2346G>T (p.Gln782His) c.2241G>T (p.Gln747His) | |
3 | g.122284784C>A | CA354160863 | CASR | c.2599C>A (p.Gln867Lys) c.2860C>A (p.Gln954Lys) c.2830C>A (p.Gln944Lys) c.2347C>A (p.Gln783Lys) c.2242C>A (p.Gln748Lys) | ClinVar dbSNP |
3 | g.122284784C>G | CA354160864 | CASR | c.2599C>G (p.Gln867Glu) c.2860C>G (p.Gln954Glu) c.2830C>G (p.Gln944Glu) c.2347C>G (p.Gln783Glu) c.2242C>G (p.Gln748Glu) | |
3 | g.122284784C>T | CA354160865 | CASR | c.2599C>T (p.Gln867Ter) c.2860C>T (p.Gln954Ter) c.2830C>T (p.Gln944Ter) c.2347C>T (p.Gln783Ter) c.2242C>T (p.Gln748Ter) | ClinVar 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.122284785A>C | CA354160868 | CASR | c.2600A>C (p.Gln867Pro) c.2861A>C (p.Gln954Pro) c.2831A>C (p.Gln944Pro) c.2348A>C (p.Gln783Pro) c.2243A>C (p.Gln748Pro) | |
3 | g.122284785A>G | CA354160866 | CASR | c.2600A>G (p.Gln867Arg) c.2861A>G (p.Gln954Arg) c.2831A>G (p.Gln944Arg) c.2348A>G (p.Gln783Arg) c.2243A>G (p.Gln748Arg) | ClinVar gnomAD v4 |
3 | g.122284785A>T | CA354160867 | CASR | c.2600A>T (p.Gln867Leu) c.2861A>T (p.Gln954Leu) c.2831A>T (p.Gln944Leu) c.2348A>T (p.Gln783Leu) c.2243A>T (p.Gln748Leu) | |
3 | g.122284786G>A | CA435425508 | CASR | c.2601G>A (p.Gln867=) c.2862G>A (p.Gln954=) c.2832G>A (p.Gln944=) c.2349G>A (p.Gln783=) c.2244G>A (p.Gln748=) | gnomAD v4 |
3 | g.122284786G>C | CA354160869 | CASR | c.2601G>C (p.Gln867His) c.2862G>C (p.Gln954His) c.2832G>C (p.Gln944His) c.2349G>C (p.Gln783His) c.2244G>C (p.Gln748His) | |
3 | g.122284786G= | CA1397872950 | CASR | c.2601G= (p.Gln867=) c.2862G= (p.Gln954=) c.2832G= (p.Gln944=) c.2349G= (p.Gln783=) c.2244G= (p.Gln748=) | |
3 | g.122284786G>T | CA354160870 | CASR | c.2601G>T (p.Gln867His) c.2862G>T (p.Gln954His) c.2832G>T (p.Gln944His) c.2349G>T (p.Gln783His) c.2244G>T (p.Gln748His) | |
3 | g.122284787C>A | CA354160871 | CASR | c.2602C>A (p.Gln868Lys) c.2863C>A (p.Gln955Lys) c.2833C>A (p.Gln945Lys) c.2350C>A (p.Gln784Lys) c.2245C>A (p.Gln749Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.122284787C>G | CA354160872 | CASR | c.2602C>G (p.Gln868Glu) c.2863C>G (p.Gln955Glu) c.2833C>G (p.Gln945Glu) c.2350C>G (p.Gln784Glu) c.2245C>G (p.Gln749Glu) | |
3 | g.122284787C>T | CA354160873 | CASR | c.2602C>T (p.Gln868Ter) c.2863C>T (p.Gln955Ter) c.2833C>T (p.Gln945Ter) c.2350C>T (p.Gln784Ter) c.2245C>T (p.Gln749Ter) | |
3 | g.122284794_122284814dup | CA916082595 | CASR | c.2609_2629dup (p.Gln876_Gln877insProLeuThrLeuProGlnGln) c.2870_2890dup (p.Gln963_Gln964insProLeuThrLeuProGlnGln) c.2840_2860dup (p.Gln953_Gln954insProLeuThrLeuProGlnGln) c.2357_2377dup (p.Gln792_Gln793insProLeuThrLeuProGlnGln) c.2252_2272dup (p.Gln757_Gln758insProLeuThrLeuProGlnGln) | ClinVar dbSNP |
3 | g.122284788A>C | CA354160874 | CASR | c.2603A>C (p.Gln868Pro) c.2864A>C (p.Gln955Pro) c.2834A>C (p.Gln945Pro) c.2351A>C (p.Gln784Pro) c.2246A>C (p.Gln749Pro) | |
3 | g.122284788A>G | CA354160876 | CASR | c.2603A>G (p.Gln868Arg) c.2864A>G (p.Gln955Arg) c.2834A>G (p.Gln945Arg) c.2351A>G (p.Gln784Arg) c.2246A>G (p.Gln749Arg) | |
3 | g.122284788A>T | CA354160875 | CASR | c.2603A>T (p.Gln868Leu) c.2864A>T (p.Gln955Leu) c.2834A>T (p.Gln945Leu) c.2351A>T (p.Gln784Leu) c.2246A>T (p.Gln749Leu) | |
3 | g.122284789G>A | CA435425517 | CASR | c.2604G>A (p.Gln868=) c.2865G>A (p.Gln955=) c.2835G>A (p.Gln945=) c.2352G>A (p.Gln784=) c.2247G>A (p.Gln749=) | ClinVar |
3 | g.122284789G>C | CA354160877 | CASR | c.2604G>C (p.Gln868His) c.2865G>C (p.Gln955His) c.2835G>C (p.Gln945His) c.2352G>C (p.Gln784His) c.2247G>C (p.Gln749His) | |
3 | g.122284789G>T | CA354160878 | CASR | c.2604G>T (p.Gln868His) c.2865G>T (p.Gln955His) c.2835G>T (p.Gln945His) c.2352G>T (p.Gln784His) c.2247G>T (p.Gln749His) | |
3 | g.122284790C>A | CA354160879 | CASR | c.2605C>A (p.Gln869Lys) c.2866C>A (p.Gln956Lys) c.2836C>A (p.Gln946Lys) c.2353C>A (p.Gln785Lys) c.2248C>A (p.Gln750Lys) | |
3 | g.122284790C>G | CA354160880 | CASR | c.2605C>G (p.Gln869Glu) c.2866C>G (p.Gln956Glu) c.2836C>G (p.Gln946Glu) c.2353C>G (p.Gln785Glu) c.2248C>G (p.Gln750Glu) | |
3 | g.122284790C>T | CA354160881 | CASR | c.2605C>T (p.Gln869Ter) c.2866C>T (p.Gln956Ter) c.2836C>T (p.Gln946Ter) c.2353C>T (p.Gln785Ter) c.2248C>T (p.Gln750Ter) | |
3 | g.122284791A>C | CA354160882 | CASR | c.2606A>C (p.Gln869Pro) c.2867A>C (p.Gln956Pro) c.2837A>C (p.Gln946Pro) c.2354A>C (p.Gln785Pro) c.2249A>C (p.Gln750Pro) | |
3 | g.122284791A>G | CA354160883 | CASR | c.2606A>G (p.Gln869Arg) c.2867A>G (p.Gln956Arg) c.2837A>G (p.Gln946Arg) c.2354A>G (p.Gln785Arg) c.2249A>G (p.Gln750Arg) | |
3 | g.122284791A>T | CA354160884 | CASR | c.2606A>T (p.Gln869Leu) c.2867A>T (p.Gln956Leu) c.2837A>T (p.Gln946Leu) c.2354A>T (p.Gln785Leu) c.2249A>T (p.Gln750Leu) | |
3 | g.122284792G>A | CA2569874 | CASR | c.2607G>A (p.Gln869=) c.2868G>A (p.Gln956=) c.2838G>A (p.Gln946=) c.2355G>A (p.Gln785=) c.2250G>A (p.Gln750=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284792G>C | CA354160885 | CASR | c.2607G>C (p.Gln869His) c.2868G>C (p.Gln956His) c.2838G>C (p.Gln946His) c.2355G>C (p.Gln785His) c.2250G>C (p.Gln750His) | |
3 | g.122284792G= | CA1397872953 | CASR | c.2607G= (p.Gln869=) c.2868G= (p.Gln956=) c.2838G= (p.Gln946=) c.2355G= (p.Gln785=) c.2250G= (p.Gln750=) | |
3 | g.122284792G>T | CA354160886 | CASR | c.2607G>T (p.Gln869His) c.2868G>T (p.Gln956His) c.2838G>T (p.Gln946His) c.2355G>T (p.Gln785His) c.2250G>T (p.Gln750His) | |
3 | g.122284793C>A | CA354160887 | CASR | c.2608C>A (p.Pro870Thr) c.2869C>A (p.Pro957Thr) c.2839C>A (p.Pro947Thr) c.2356C>A (p.Pro786Thr) c.2251C>A (p.Pro751Thr) | |
3 | g.122284793C= | CA1397872954 | CASR | c.2608C= (p.Pro870=) c.2869C= (p.Pro957=) c.2839C= (p.Pro947=) c.2356C= (p.Pro786=) c.2251C= (p.Pro751=) | |
3 | g.122284793C>G | CA354160888 | CASR | c.2608C>G (p.Pro870Ala) c.2869C>G (p.Pro957Ala) c.2839C>G (p.Pro947Ala) c.2356C>G (p.Pro786Ala) c.2251C>G (p.Pro751Ala) | |
3 | g.122284793C>T | CA2569875 | CASR | c.2608C>T (p.Pro870Ser) c.2869C>T (p.Pro957Ser) c.2839C>T (p.Pro947Ser) c.2356C>T (p.Pro786Ser) c.2251C>T (p.Pro751Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284794C>A | CA354160890 | CASR | c.2609C>A (p.Pro870His) c.2870C>A (p.Pro957His) c.2840C>A (p.Pro947His) c.2357C>A (p.Pro786His) c.2252C>A (p.Pro751His) | ClinVar dbSNP |
3 | g.122284794C= | CA1397872956 | CASR | c.2609C= (p.Pro870=) c.2870C= (p.Pro957=) c.2840C= (p.Pro947=) c.2357C= (p.Pro786=) c.2252C= (p.Pro751=) | |
3 | g.122284794C>G | CA354160889 | CASR | c.2609C>G (p.Pro870Arg) c.2870C>G (p.Pro957Arg) c.2840C>G (p.Pro947Arg) c.2357C>G (p.Pro786Arg) c.2252C>G (p.Pro751Arg) | |
3 | g.122284794C>T | CA2569876 | CASR | c.2609C>T (p.Pro870Leu) c.2870C>T (p.Pro957Leu) c.2840C>T (p.Pro947Leu) c.2357C>T (p.Pro786Leu) c.2252C>T (p.Pro751Leu) | dbSNP ExAC gnomAD v2 |
3 | g.122284795C>A | CA435425529 | CASR | c.2610C>A (p.Pro870=) c.2871C>A (p.Pro957=) c.2841C>A (p.Pro947=) c.2358C>A (p.Pro786=) c.2253C>A (p.Pro751=) | |
3 | g.122284795C= | CA1397872958 | CASR | c.2610C= (p.Pro870=) c.2871C= (p.Pro957=) c.2841C= (p.Pro947=) c.2358C= (p.Pro786=) c.2253C= (p.Pro751=) | |
3 | g.122284795C>G | CA435425530 | CASR | c.2610C>G (p.Pro870=) c.2871C>G (p.Pro957=) c.2841C>G (p.Pro947=) c.2358C>G (p.Pro786=) c.2253C>G (p.Pro751=) | ClinVar dbSNP |
3 | g.122284795C>T | CA435425531 | CASR | c.2610C>T (p.Pro870=) c.2871C>T (p.Pro957=) c.2841C>T (p.Pro947=) c.2358C>T (p.Pro786=) c.2253C>T (p.Pro751=) | |
3 | g.122284796C>A | CA354160891 | CASR | c.2611C>A (p.Leu871Met) c.2872C>A (p.Leu958Met) c.2842C>A (p.Leu948Met) c.2359C>A (p.Leu787Met) c.2254C>A (p.Leu752Met) | |
3 | g.122284796C>G | CA354160892 | CASR | c.2611C>G (p.Leu871Val) c.2872C>G (p.Leu958Val) c.2842C>G (p.Leu948Val) c.2359C>G (p.Leu787Val) c.2254C>G (p.Leu752Val) | |
3 | g.122284796C>T | CA435425533 | CASR | c.2611C>T (p.Leu871=) c.2872C>T (p.Leu958=) c.2842C>T (p.Leu948=) c.2359C>T (p.Leu787=) c.2254C>T (p.Leu752=) | ClinVar |
3 | g.122284797T>A | CA354160893 | CASR | c.2612T>A (p.Leu871Gln) c.2873T>A (p.Leu958Gln) c.2843T>A (p.Leu948Gln) c.2360T>A (p.Leu787Gln) c.2255T>A (p.Leu752Gln) | |
3 | g.122284797T>C | CA2569877 | CASR | c.2612T>C (p.Leu871Pro) c.2873T>C (p.Leu958Pro) c.2843T>C (p.Leu948Pro) c.2360T>C (p.Leu787Pro) c.2255T>C (p.Leu752Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284797T>G | CA354160894 | CASR | c.2612T>G (p.Leu871Arg) c.2873T>G (p.Leu958Arg) c.2843T>G (p.Leu948Arg) c.2360T>G (p.Leu787Arg) c.2255T>G (p.Leu752Arg) | |
3 | g.122284797T= | CA1397872959 | CASR | c.2612T= (p.Leu871=) c.2873T= (p.Leu958=) c.2843T= (p.Leu948=) c.2360T= (p.Leu787=) c.2255T= (p.Leu752=) | |
3 | g.122284798G>A | CA2569878 | CASR | c.2613G>A (p.Leu871=) c.2874G>A (p.Leu958=) c.2844G>A (p.Leu948=) c.2361G>A (p.Leu787=) c.2256G>A (p.Leu752=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284798G>C | CA435425536 | CASR | c.2613G>C (p.Leu871=) c.2874G>C (p.Leu958=) c.2844G>C (p.Leu948=) c.2361G>C (p.Leu787=) c.2256G>C (p.Leu752=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284798G= | CA1397872961 | CASR | c.2613G= (p.Leu871=) c.2874G= (p.Leu958=) c.2844G= (p.Leu948=) c.2361G= (p.Leu787=) c.2256G= (p.Leu752=) | |
3 | g.122284798G>T | CA435425534 | CASR | c.2613G>T (p.Leu871=) c.2874G>T (p.Leu958=) c.2844G>T (p.Leu948=) c.2361G>T (p.Leu787=) c.2256G>T (p.Leu752=) | |
3 | g.122284799A= | CA1397872962 | CASR | c.2614A= (p.Thr872=) c.2875A= (p.Thr959=) c.2845A= (p.Thr949=) c.2362A= (p.Thr788=) c.2257A= (p.Thr753=) | |
3 | g.122284799A>C | CA354160895 | CASR | c.2614A>C (p.Thr872Pro) c.2875A>C (p.Thr959Pro) c.2845A>C (p.Thr949Pro) c.2362A>C (p.Thr788Pro) c.2257A>C (p.Thr753Pro) | |
3 | g.122284799A>G | CA2569879 | CASR | c.2614A>G (p.Thr872Ala) c.2875A>G (p.Thr959Ala) c.2845A>G (p.Thr949Ala) c.2362A>G (p.Thr788Ala) c.2257A>G (p.Thr753Ala) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.122284799A>T | CA354160896 | CASR | c.2614A>T (p.Thr872Ser) c.2875A>T (p.Thr959Ser) c.2845A>T (p.Thr949Ser) c.2362A>T (p.Thr788Ser) c.2257A>T (p.Thr753Ser) | |
3 | g.122284800C>A | CA354160897 | CASR | c.2615C>A (p.Thr872Asn) c.2876C>A (p.Thr959Asn) c.2846C>A (p.Thr949Asn) c.2363C>A (p.Thr788Asn) c.2258C>A (p.Thr753Asn) | ClinVar |
3 | g.122284800C>G | CA354160898 | CASR | c.2615C>G (p.Thr872Ser) c.2876C>G (p.Thr959Ser) c.2846C>G (p.Thr949Ser) c.2363C>G (p.Thr788Ser) c.2258C>G (p.Thr753Ser) | |
3 | g.122284800C>T | CA354160899 | CASR | c.2615C>T (p.Thr872Ile) c.2876C>T (p.Thr959Ile) c.2846C>T (p.Thr949Ile) c.2363C>T (p.Thr788Ile) c.2258C>T (p.Thr753Ile) | |
3 | g.122284801C>A | CA435425538 | CASR | c.2616C>A (p.Thr872=) c.2877C>A (p.Thr959=) c.2847C>A (p.Thr949=) c.2364C>A (p.Thr788=) c.2259C>A (p.Thr753=) | |
3 | g.122284801C= | CA1397872963 | CASR | c.2616C= (p.Thr872=) c.2877C= (p.Thr959=) c.2847C= (p.Thr949=) c.2364C= (p.Thr788=) c.2259C= (p.Thr753=) | |
3 | g.122284801C>G | CA435425539 | CASR | c.2616C>G (p.Thr872=) c.2877C>G (p.Thr959=) c.2847C>G (p.Thr949=) c.2364C>G (p.Thr788=) c.2259C>G (p.Thr753=) | |
3 | g.122284801C>T | CA435425540 | CASR | c.2616C>T (p.Thr872=) c.2877C>T (p.Thr959=) c.2847C>T (p.Thr949=) c.2364C>T (p.Thr788=) c.2259C>T (p.Thr753=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284802C>A | CA354160902 | CASR | c.2617C>A (p.Leu873Ile) c.2878C>A (p.Leu960Ile) c.2848C>A (p.Leu950Ile) c.2365C>A (p.Leu789Ile) c.2260C>A (p.Leu754Ile) | |
3 | g.122284802C>G | CA354160900 | CASR | c.2617C>G (p.Leu873Val) c.2878C>G (p.Leu960Val) c.2848C>G (p.Leu950Val) c.2365C>G (p.Leu789Val) c.2260C>G (p.Leu754Val) | |
3 | g.122284802C>T | CA354160901 | CASR | c.2617C>T (p.Leu873Phe) c.2878C>T (p.Leu960Phe) c.2848C>T (p.Leu950Phe) c.2365C>T (p.Leu789Phe) c.2260C>T (p.Leu754Phe) | ClinVar |
3 | g.122284803T>A | CA354160903 | CASR | c.2618T>A (p.Leu873His) c.2879T>A (p.Leu960His) c.2849T>A (p.Leu950His) c.2366T>A (p.Leu789His) c.2261T>A (p.Leu754His) | |
3 | g.122284803T>C | CA2569880 | CASR | c.2618T>C (p.Leu873Pro) c.2879T>C (p.Leu960Pro) c.2849T>C (p.Leu950Pro) c.2366T>C (p.Leu789Pro) c.2261T>C (p.Leu754Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284803T>G | CA354160904 | CASR | c.2618T>G (p.Leu873Arg) c.2879T>G (p.Leu960Arg) c.2849T>G (p.Leu950Arg) c.2366T>G (p.Leu789Arg) c.2261T>G (p.Leu754Arg) | |
3 | g.122284803T= | CA1397872964 | CASR | c.2618T= (p.Leu873=) c.2879T= (p.Leu960=) c.2849T= (p.Leu950=) c.2366T= (p.Leu789=) c.2261T= (p.Leu754=) | |
3 | g.122284804C>A | CA435425655 | CASR | c.2619C>A (p.Leu873=) c.2880C>A (p.Leu960=) c.2850C>A (p.Leu950=) c.2367C>A (p.Leu789=) c.2262C>A (p.Leu754=) | |
3 | g.122284804C>G | CA435425656 | CASR | c.2619C>G (p.Leu873=) c.2880C>G (p.Leu960=) c.2850C>G (p.Leu950=) c.2367C>G (p.Leu789=) c.2262C>G (p.Leu754=) | |
3 | g.122284804C>T | CA435425657 | CASR | c.2619C>T (p.Leu873=) c.2880C>T (p.Leu960=) c.2850C>T (p.Leu950=) c.2367C>T (p.Leu789=) c.2262C>T (p.Leu754=) | |
3 | g.122284805_122284806dup | CA82749310 | CASR | c.2620_2621dup (p.Gln875HisfsTer27) c.2881_2882dup (p.Gln962HisfsTer27) c.2851_2852dup (p.Gln952HisfsTer27) c.2368_2369dup (p.Gln791HisfsTer27) c.2263_2264dup (p.Gln756HisfsTer27) | dbSNP |
3 | g.122284805C>A | CA82749313 | CASR | c.2620C>A (p.Pro874Thr) c.2881C>A (p.Pro961Thr) c.2851C>A (p.Pro951Thr) c.2368C>A (p.Pro790Thr) c.2263C>A (p.Pro755Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284805C= | CA1397872966 | CASR | c.2620C= (p.Pro874=) c.2881C= (p.Pro961=) c.2851C= (p.Pro951=) c.2368C= (p.Pro790=) c.2263C= (p.Pro755=) | |
3 | g.122284805C>G | CA354160905 | CASR | c.2620C>G (p.Pro874Ala) c.2881C>G (p.Pro961Ala) c.2851C>G (p.Pro951Ala) c.2368C>G (p.Pro790Ala) c.2263C>G (p.Pro755Ala) | |
3 | g.122284805C>T | CA354160906 | CASR | c.2620C>T (p.Pro874Ser) c.2881C>T (p.Pro961Ser) c.2851C>T (p.Pro951Ser) c.2368C>T (p.Pro790Ser) c.2263C>T (p.Pro755Ser) | |
3 | g.122284806C>A | CA354160907 | CASR | c.2621C>A (p.Pro874Gln) c.2882C>A (p.Pro961Gln) c.2852C>A (p.Pro951Gln) c.2369C>A (p.Pro790Gln) c.2264C>A (p.Pro755Gln) | |
3 | g.122284806C>G | CA354160908 | CASR | c.2621C>G (p.Pro874Arg) c.2882C>G (p.Pro961Arg) c.2852C>G (p.Pro951Arg) c.2369C>G (p.Pro790Arg) c.2264C>G (p.Pro755Arg) | ClinVar |
3 | g.122284806C>T | CA354160909 | CASR | c.2621C>T (p.Pro874Leu) c.2882C>T (p.Pro961Leu) c.2852C>T (p.Pro951Leu) c.2369C>T (p.Pro790Leu) c.2264C>T (p.Pro755Leu) | ClinVar gnomAD v4 |
3 | g.122284807A= | CA1397872968 | CASR | c.2622A= (p.Pro874=) c.2883A= (p.Pro961=) c.2853A= (p.Pro951=) c.2370A= (p.Pro790=) c.2265A= (p.Pro755=) | |
3 | g.122284807A>C | CA435425659 | CASR | c.2622A>C (p.Pro874=) c.2883A>C (p.Pro961=) c.2853A>C (p.Pro951=) c.2370A>C (p.Pro790=) c.2265A>C (p.Pro755=) | dbSNP |
3 | g.122284807A>G | CA435425660 | CASR | c.2622A>G (p.Pro874=) c.2883A>G (p.Pro961=) c.2853A>G (p.Pro951=) c.2370A>G (p.Pro790=) c.2265A>G (p.Pro755=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284807A>T | CA435425661 | CASR | c.2622A>T (p.Pro874=) c.2883A>T (p.Pro961=) c.2853A>T (p.Pro951=) c.2370A>T (p.Pro790=) c.2265A>T (p.Pro755=) | |
3 | g.122284808C>A | CA354160910 | CASR | c.2623C>A (p.Gln875Lys) c.2884C>A (p.Gln962Lys) c.2854C>A (p.Gln952Lys) c.2371C>A (p.Gln791Lys) c.2266C>A (p.Gln756Lys) | |
3 | g.122284808C>G | CA354160911 | CASR | c.2623C>G (p.Gln875Glu) c.2884C>G (p.Gln962Glu) c.2854C>G (p.Gln952Glu) c.2371C>G (p.Gln791Glu) c.2266C>G (p.Gln756Glu) | |
3 | g.122284808C>T | CA354160912 | CASR | c.2623C>T (p.Gln875Ter) c.2884C>T (p.Gln962Ter) c.2854C>T (p.Gln952Ter) c.2371C>T (p.Gln791Ter) c.2266C>T (p.Gln756Ter) | |
3 | g.122284809A>C | CA354160915 | CASR | c.2624A>C (p.Gln875Pro) c.2885A>C (p.Gln962Pro) c.2855A>C (p.Gln952Pro) c.2372A>C (p.Gln791Pro) c.2267A>C (p.Gln756Pro) | |
3 | g.122284809A>G | CA354160914 | CASR | c.2624A>G (p.Gln875Arg) c.2885A>G (p.Gln962Arg) c.2855A>G (p.Gln952Arg) c.2372A>G (p.Gln791Arg) c.2267A>G (p.Gln756Arg) | |
3 | g.122284809A>T | CA354160913 | CASR | c.2624A>T (p.Gln875Leu) c.2885A>T (p.Gln962Leu) c.2855A>T (p.Gln952Leu) c.2372A>T (p.Gln791Leu) c.2267A>T (p.Gln756Leu) | |
3 | g.122284810G>A | CA435425665 | CASR | c.2625G>A (p.Gln875=) c.2886G>A (p.Gln962=) c.2856G>A (p.Gln952=) c.2373G>A (p.Gln791=) c.2268G>A (p.Gln756=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284810G>C | CA354160917 | CASR | c.2625G>C (p.Gln875His) c.2886G>C (p.Gln962His) c.2856G>C (p.Gln952His) c.2373G>C (p.Gln791His) c.2268G>C (p.Gln756His) | |
3 | g.122284810G= | CA1397872970 | CASR | c.2625G= (p.Gln875=) c.2886G= (p.Gln962=) c.2856G= (p.Gln952=) c.2373G= (p.Gln791=) c.2268G= (p.Gln756=) | |
3 | g.122284810G>T | CA354160916 | CASR | c.2625G>T (p.Gln875His) c.2886G>T (p.Gln962His) c.2856G>T (p.Gln952His) c.2373G>T (p.Gln791His) c.2268G>T (p.Gln756His) | |
3 | g.122284811C>A | CA354160918 | CASR | c.2626C>A (p.Gln876Lys) c.2887C>A (p.Gln963Lys) c.2857C>A (p.Gln953Lys) c.2374C>A (p.Gln792Lys) c.2269C>A (p.Gln757Lys) | COSMIC |
3 | g.122284811C= | CA1397872971 | CASR | c.2626C= (p.Gln876=) c.2887C= (p.Gln963=) c.2857C= (p.Gln953=) c.2374C= (p.Gln792=) c.2269C= (p.Gln757=) | |
3 | g.122284811C>G | CA2569881 | CASR | c.2626C>G (p.Gln876Glu) c.2887C>G (p.Gln963Glu) c.2857C>G (p.Gln953Glu) c.2374C>G (p.Gln792Glu) c.2269C>G (p.Gln757Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284811C>T | CA354160919 | CASR | c.2626C>T (p.Gln876Ter) c.2887C>T (p.Gln963Ter) c.2857C>T (p.Gln953Ter) c.2374C>T (p.Gln792Ter) c.2269C>T (p.Gln757Ter) | |
3 | g.122284812A>C | CA354160920 | CASR | c.2627A>C (p.Gln876Pro) c.2888A>C (p.Gln963Pro) c.2858A>C (p.Gln953Pro) c.2375A>C (p.Gln792Pro) c.2270A>C (p.Gln757Pro) | |
3 | g.122284812A>G | CA354160921 | CASR | c.2627A>G (p.Gln876Arg) c.2888A>G (p.Gln963Arg) c.2858A>G (p.Gln953Arg) c.2375A>G (p.Gln792Arg) c.2270A>G (p.Gln757Arg) | gnomAD v4 |
3 | g.122284812A>T | CA354160922 | CASR | c.2627A>T (p.Gln876Leu) c.2888A>T (p.Gln963Leu) c.2858A>T (p.Gln953Leu) c.2375A>T (p.Gln792Leu) c.2270A>T (p.Gln757Leu) | |
3 | g.122284813G>A | CA435425668 | CASR | c.2628G>A (p.Gln876=) c.2889G>A (p.Gln963=) c.2859G>A (p.Gln953=) c.2376G>A (p.Gln792=) c.2271G>A (p.Gln757=) | |
3 | g.122284813G>C | CA354160923 | CASR | c.2628G>C (p.Gln876His) c.2889G>C (p.Gln963His) c.2859G>C (p.Gln953His) c.2376G>C (p.Gln792His) c.2271G>C (p.Gln757His) | |
3 | g.122284813G>T | CA354160924 | CASR | c.2628G>T (p.Gln876His) c.2889G>T (p.Gln963His) c.2859G>T (p.Gln953His) c.2376G>T (p.Gln792His) c.2271G>T (p.Gln757His) | |
3 | g.122284814C>A | CA354160925 | CASR | c.2629C>A (p.Gln877Lys) c.2890C>A (p.Gln964Lys) c.2860C>A (p.Gln954Lys) c.2377C>A (p.Gln793Lys) c.2272C>A (p.Gln758Lys) | |
3 | g.122284814C>G | CA354160926 | CASR | c.2629C>G (p.Gln877Glu) c.2890C>G (p.Gln964Glu) c.2860C>G (p.Gln954Glu) c.2377C>G (p.Gln793Glu) c.2272C>G (p.Gln758Glu) | |
3 | g.122284814C>T | CA354160927 | CASR | c.2629C>T (p.Gln877Ter) c.2890C>T (p.Gln964Ter) c.2860C>T (p.Gln954Ter) c.2377C>T (p.Gln793Ter) c.2272C>T (p.Gln758Ter) | |
3 | g.122284815A>C | CA354160929 | CASR | c.2630A>C (p.Gln877Pro) c.2891A>C (p.Gln964Pro) c.2861A>C (p.Gln954Pro) c.2378A>C (p.Gln793Pro) c.2273A>C (p.Gln758Pro) | |
3 | g.122284815A>G | CA354160930 | CASR | c.2630A>G (p.Gln877Arg) c.2891A>G (p.Gln964Arg) c.2861A>G (p.Gln954Arg) c.2378A>G (p.Gln793Arg) c.2273A>G (p.Gln758Arg) | |
3 | g.122284815A>T | CA354160928 | CASR | c.2630A>T (p.Gln877Leu) c.2891A>T (p.Gln964Leu) c.2861A>T (p.Gln954Leu) c.2378A>T (p.Gln793Leu) c.2273A>T (p.Gln758Leu) | |
3 | g.122284816A= | CA1397872972 | CASR | c.2631A= (p.Gln877=) c.2892A= (p.Gln964=) c.2862A= (p.Gln954=) c.2379A= (p.Gln793=) c.2274A= (p.Gln758=) | |
3 | g.122284816A>C | CA354160931 | CASR | c.2631A>C (p.Gln877His) c.2892A>C (p.Gln964His) c.2862A>C (p.Gln954His) c.2379A>C (p.Gln793His) c.2274A>C (p.Gln758His) | |
3 | g.122284816A>G | CA2569882 | CASR | c.2631A>G (p.Gln877=) c.2892A>G (p.Gln964=) c.2862A>G (p.Gln954=) c.2379A>G (p.Gln793=) c.2274A>G (p.Gln758=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284816A>T | CA354160932 | CASR | c.2631A>T (p.Gln877His) c.2892A>T (p.Gln964His) c.2862A>T (p.Gln954His) c.2379A>T (p.Gln793His) c.2274A>T (p.Gln758His) | |
3 | g.122284817C>A | CA435425674 | CASR | c.2632C>A (p.Arg878=) c.2893C>A (p.Arg965=) c.2863C>A (p.Arg955=) c.2380C>A (p.Arg794=) c.2275C>A (p.Arg759=) | ClinVar |
3 | g.122284817C= | CA1397872973 | CASR | c.2632C= (p.Arg878=) c.2893C= (p.Arg965=) c.2863C= (p.Arg955=) c.2380C= (p.Arg794=) c.2275C= (p.Arg759=) | |
3 | g.122284817C>G | CA354160933 | CASR | c.2632C>G (p.Arg878Gly) c.2893C>G (p.Arg965Gly) c.2863C>G (p.Arg955Gly) c.2380C>G (p.Arg794Gly) c.2275C>G (p.Arg759Gly) | |
3 | g.122284817C>T | CA354160934 | CASR | c.2632C>T (p.Arg878Ter) c.2893C>T (p.Arg965Ter) c.2863C>T (p.Arg955Ter) c.2380C>T (p.Arg794Ter) c.2275C>T (p.Arg759Ter) | ClinVar dbSNP COSMIC |
3 | g.122284818G>A | CA82749315 | CASR | c.2633G>A (p.Arg878Gln) c.2894G>A (p.Arg965Gln) c.2864G>A (p.Arg955Gln) c.2381G>A (p.Arg794Gln) c.2276G>A (p.Arg759Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.122284818G>C | CA354160935 | CASR | c.2633G>C (p.Arg878Pro) c.2894G>C (p.Arg965Pro) c.2864G>C (p.Arg955Pro) c.2381G>C (p.Arg794Pro) c.2276G>C (p.Arg759Pro) | |
3 | g.122284818G= | CA1397872975 | CASR | c.2633G= (p.Arg878=) c.2894G= (p.Arg965=) c.2864G= (p.Arg955=) c.2381G= (p.Arg794=) c.2276G= (p.Arg759=) | |
3 | g.122284818G>T | CA354160936 | CASR | c.2633G>T (p.Arg878Leu) c.2894G>T (p.Arg965Leu) c.2864G>T (p.Arg955Leu) c.2381G>T (p.Arg794Leu) c.2276G>T (p.Arg759Leu) | COSMIC |
3 | g.122284819A>C | CA435425676 | CASR | c.2634A>C (p.Arg878=) c.2895A>C (p.Arg965=) c.2865A>C (p.Arg955=) c.2382A>C (p.Arg794=) c.2277A>C (p.Arg759=) | |
3 | g.122284819A>G | CA435425678 | CASR | c.2634A>G (p.Arg878=) c.2895A>G (p.Arg965=) c.2865A>G (p.Arg955=) c.2382A>G (p.Arg794=) c.2277A>G (p.Arg759=) | |
3 | g.122284819A>T | CA435425680 | CASR | c.2634A>T (p.Arg878=) c.2895A>T (p.Arg965=) c.2865A>T (p.Arg955=) c.2382A>T (p.Arg794=) c.2277A>T (p.Arg759=) | |
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=) |