| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284407G>A | CA354159837 | CASR | c.2222G>A (p.Trp741Ter) c.2483G>A (p.Trp828Ter) c.2453G>A (p.Trp818Ter) c.1970G>A (p.Trp657Ter) c.1865G>A (p.Trp622Ter) | gnomAD v4 |
| 3 | g.122284407G>C | CA354159838 | CASR | c.2222G>C (p.Trp741Ser) c.2483G>C (p.Trp828Ser) c.2453G>C (p.Trp818Ser) c.1970G>C (p.Trp657Ser) c.1865G>C (p.Trp622Ser) | |
| 3 | g.122284407G>T | CA354159839 | CASR | c.2222G>T (p.Trp741Leu) c.2483G>T (p.Trp828Leu) c.2453G>T (p.Trp818Leu) c.1970G>T (p.Trp657Leu) c.1865G>T (p.Trp622Leu) | COSMIC |
| 3 | g.122284408G>A | CA354159840 | CASR | c.2223G>A (p.Trp741Ter) c.2484G>A (p.Trp828Ter) c.2454G>A (p.Trp818Ter) c.1971G>A (p.Trp657Ter) c.1866G>A (p.Trp622Ter) | ClinVar dbSNP |
| 3 | g.122284408G>C | CA354159842 | CASR | c.2223G>C (p.Trp741Cys) c.2484G>C (p.Trp828Cys) c.2454G>C (p.Trp818Cys) c.1971G>C (p.Trp657Cys) c.1866G>C (p.Trp622Cys) | |
| 3 | g.122284408G= | CA1397872361 | CASR | c.2223G= (p.Trp741=) c.2484G= (p.Trp828=) c.2454G= (p.Trp818=) c.1971G= (p.Trp657=) c.1866G= (p.Trp622=) | |
| 3 | g.122284408G>T | CA354159841 | CASR | c.2223G>T (p.Trp741Cys) c.2484G>T (p.Trp828Cys) c.2454G>T (p.Trp818Cys) c.1971G>T (p.Trp657Cys) c.1866G>T (p.Trp622Cys) | ClinVar gnomAD v4 |
| 3 | g.122284409A>C | CA354159843 | CASR | c.2224A>C (p.Ile742Leu) c.2485A>C (p.Ile829Leu) c.2455A>C (p.Ile819Leu) c.1972A>C (p.Ile658Leu) c.1867A>C (p.Ile623Leu) | |
| 3 | g.122284409A>G | CA354159844 | CASR | c.2224A>G (p.Ile742Val) c.2485A>G (p.Ile829Val) c.2455A>G (p.Ile819Val) c.1972A>G (p.Ile658Val) c.1867A>G (p.Ile623Val) | gnomAD v4 |
| 3 | g.122284409A>T | CA354159845 | CASR | c.2224A>T (p.Ile742Phe) c.2485A>T (p.Ile829Phe) c.2455A>T (p.Ile819Phe) c.1972A>T (p.Ile658Phe) c.1867A>T (p.Ile623Phe) | |
| 3 | g.122284410T>A | CA354159846 | CASR | c.2225T>A (p.Ile742Asn) c.2486T>A (p.Ile829Asn) c.2456T>A (p.Ile819Asn) c.1973T>A (p.Ile658Asn) c.1868T>A (p.Ile623Asn) | |
| 3 | g.122284410T>C | CA354159847 | CASR | c.2225T>C (p.Ile742Thr) c.2486T>C (p.Ile829Thr) c.2456T>C (p.Ile819Thr) c.1973T>C (p.Ile658Thr) c.1868T>C (p.Ile623Thr) | |
| 3 | g.122284410T>G | CA354159848 | CASR | c.2225T>G (p.Ile742Ser) c.2486T>G (p.Ile829Ser) c.2456T>G (p.Ile819Ser) c.1973T>G (p.Ile658Ser) c.1868T>G (p.Ile623Ser) | |
| 3 | g.122284411C>A | CA435425297 | CASR | c.2226C>A (p.Ile742=) c.2487C>A (p.Ile829=) c.2457C>A (p.Ile819=) c.1974C>A (p.Ile658=) c.1869C>A (p.Ile623=) | gnomAD v4 |
| 3 | g.122284411C= | CA1397872364 | CASR | c.2226C= (p.Ile742=) c.2487C= (p.Ile829=) c.2457C= (p.Ile819=) c.1974C= (p.Ile658=) c.1869C= (p.Ile623=) | |
| 3 | g.122284411C>G | CA2569827 | CASR | c.2226C>G (p.Ile742Met) c.2487C>G (p.Ile829Met) c.2457C>G (p.Ile819Met) c.1974C>G (p.Ile658Met) c.1869C>G (p.Ile623Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284411C>T | CA435425299 | CASR | c.2226C>T (p.Ile742=) c.2487C>T (p.Ile829=) c.2457C>T (p.Ile819=) c.1974C>T (p.Ile658=) c.1869C>T (p.Ile623=) | |
| 3 | g.122284412T>A | CA354159849 | CASR | c.2227T>A (p.Ser743Thr) c.2488T>A (p.Ser830Thr) c.2458T>A (p.Ser820Thr) c.1975T>A (p.Ser659Thr) c.1870T>A (p.Ser624Thr) | |
| 3 | g.122284412T>C | CA354159850 | CASR | c.2227T>C (p.Ser743Pro) c.2488T>C (p.Ser830Pro) c.2458T>C (p.Ser820Pro) c.1975T>C (p.Ser659Pro) c.1870T>C (p.Ser624Pro) | |
| 3 | g.122284412T>G | CA354159851 | CASR | c.2227T>G (p.Ser743Ala) c.2488T>G (p.Ser830Ala) c.2458T>G (p.Ser820Ala) c.1975T>G (p.Ser659Ala) c.1870T>G (p.Ser624Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284412T= | CA1397872366 | CASR | c.2227T= (p.Ser743=) c.2488T= (p.Ser830=) c.2458T= (p.Ser820=) c.1975T= (p.Ser659=) c.1870T= (p.Ser624=) | |
| 3 | g.122284413C>A | CA354159852 | CASR | c.2228C>A (p.Ser743Tyr) c.2489C>A (p.Ser830Tyr) c.2459C>A (p.Ser820Tyr) c.1976C>A (p.Ser659Tyr) c.1871C>A (p.Ser624Tyr) | |
| 3 | g.122284413C= | CA1397872368 | CASR | c.2228C= (p.Ser743=) c.2489C= (p.Ser830=) c.2459C= (p.Ser820=) c.1976C= (p.Ser659=) c.1871C= (p.Ser624=) | |
| 3 | g.122284413C>G | CA354159853 | CASR | c.2228C>G (p.Ser743Cys) c.2489C>G (p.Ser830Cys) c.2459C>G (p.Ser820Cys) c.1976C>G (p.Ser659Cys) c.1871C>G (p.Ser624Cys) | |
| 3 | g.122284413C>T | CA119527 | CASR | c.2228C>T (p.Ser743Phe) c.2489C>T (p.Ser830Phe) c.2459C>T (p.Ser820Phe) c.1976C>T (p.Ser659Phe) c.1871C>T (p.Ser624Phe) | ClinVar dbSNP COSMIC |
| 3 | g.122284414C>A | CA435425303 | CASR | c.2229C>A (p.Ser743=) c.2490C>A (p.Ser830=) c.2460C>A (p.Ser820=) c.1977C>A (p.Ser659=) c.1872C>A (p.Ser624=) | |
| 3 | g.122284414C>G | CA435425304 | CASR | c.2229C>G (p.Ser743=) c.2490C>G (p.Ser830=) c.2460C>G (p.Ser820=) c.1977C>G (p.Ser659=) c.1872C>G (p.Ser624=) | |
| 3 | g.122284414C>T | CA435425305 | CASR | c.2229C>T (p.Ser743=) c.2490C>T (p.Ser830=) c.2460C>T (p.Ser820=) c.1977C>T (p.Ser659=) c.1872C>T (p.Ser624=) | ClinVar |
| 3 | g.122284415T>A | CA354159855 | CASR | c.2230T>A (p.Phe744Ile) c.2491T>A (p.Phe831Ile) c.2461T>A (p.Phe821Ile) c.1978T>A (p.Phe660Ile) c.1873T>A (p.Phe625Ile) | |
| 3 | g.122284415T>C | CA354159856 | CASR | c.2230T>C (p.Phe744Leu) c.2491T>C (p.Phe831Leu) c.2461T>C (p.Phe821Leu) c.1978T>C (p.Phe660Leu) c.1873T>C (p.Phe625Leu) | |
| 3 | g.122284415T>G | CA354159854 | CASR | c.2230T>G (p.Phe744Val) c.2491T>G (p.Phe831Val) c.2461T>G (p.Phe821Val) c.1978T>G (p.Phe660Val) c.1873T>G (p.Phe625Val) | ClinVar dbSNP |
| 3 | g.122284415T= | CA1397872371 | CASR | c.2230T= (p.Phe744=) c.2491T= (p.Phe831=) c.2461T= (p.Phe821=) c.1978T= (p.Phe660=) c.1873T= (p.Phe625=) | |
| 3 | g.122284416T>A | CA354159858 | CASR | c.2231T>A (p.Phe744Tyr) c.2492T>A (p.Phe831Tyr) c.2462T>A (p.Phe821Tyr) c.1979T>A (p.Phe660Tyr) c.1874T>A (p.Phe625Tyr) | |
| 3 | g.122284416T>C | CA354159857 | CASR | c.2231T>C (p.Phe744Ser) c.2492T>C (p.Phe831Ser) c.2462T>C (p.Phe821Ser) c.1979T>C (p.Phe660Ser) c.1874T>C (p.Phe625Ser) | |
| 3 | g.122284416T>G | CA354159859 | CASR | c.2231T>G (p.Phe744Cys) c.2492T>G (p.Phe831Cys) c.2462T>G (p.Phe821Cys) c.1979T>G (p.Phe660Cys) c.1874T>G (p.Phe625Cys) | |
| 3 | g.122284417C>A | CA354159860 | CASR | c.2232C>A (p.Phe744Leu) c.2493C>A (p.Phe831Leu) c.2463C>A (p.Phe821Leu) c.1980C>A (p.Phe660Leu) c.1875C>A (p.Phe625Leu) | |
| 3 | g.122284417C>G | CA354159861 | CASR | c.2232C>G (p.Phe744Leu) c.2493C>G (p.Phe831Leu) c.2463C>G (p.Phe821Leu) c.1980C>G (p.Phe660Leu) c.1875C>G (p.Phe625Leu) | |
| 3 | g.122284417C>T | CA435425309 | CASR | c.2232C>T (p.Phe744=) c.2493C>T (p.Phe831=) c.2463C>T (p.Phe821=) c.1980C>T (p.Phe660=) c.1875C>T (p.Phe625=) | |
| 3 | g.122284418A= | CA1397872373 | CASR | c.2233A= (p.Ile745=) c.2494A= (p.Ile832=) c.2464A= (p.Ile822=) c.1981A= (p.Ile661=) c.1876A= (p.Ile626=) | |
| 3 | g.122284418A>C | CA354159862 | CASR | c.2233A>C (p.Ile745Leu) c.2494A>C (p.Ile832Leu) c.2464A>C (p.Ile822Leu) c.1981A>C (p.Ile661Leu) c.1876A>C (p.Ile626Leu) | |
| 3 | g.122284418A>G | CA354159863 | CASR | c.2233A>G (p.Ile745Val) c.2494A>G (p.Ile832Val) c.2464A>G (p.Ile822Val) c.1981A>G (p.Ile661Val) c.1876A>G (p.Ile626Val) | ClinVar dbSNP |
| 3 | g.122284418A>T | CA354159864 | CASR | c.2233A>T (p.Ile745Phe) c.2494A>T (p.Ile832Phe) c.2464A>T (p.Ile822Phe) c.1981A>T (p.Ile661Phe) c.1876A>T (p.Ile626Phe) | |
| 3 | g.122284419T>A | CA354159865 | CASR | c.2234T>A (p.Ile745Asn) c.2495T>A (p.Ile832Asn) c.2465T>A (p.Ile822Asn) c.1982T>A (p.Ile661Asn) c.1877T>A (p.Ile626Asn) | |
| 3 | g.122284419T>C | CA354159866 | CASR | c.2234T>C (p.Ile745Thr) c.2495T>C (p.Ile832Thr) c.2465T>C (p.Ile822Thr) c.1982T>C (p.Ile661Thr) c.1877T>C (p.Ile626Thr) | ClinVar dbSNP |
| 3 | g.122284419T>G | CA354159867 | CASR | c.2234T>G (p.Ile745Ser) c.2495T>G (p.Ile832Ser) c.2465T>G (p.Ile822Ser) c.1982T>G (p.Ile661Ser) c.1877T>G (p.Ile626Ser) | |
| 3 | g.122284419T= | CA1397872376 | CASR | c.2234T= (p.Ile745=) c.2495T= (p.Ile832=) c.2465T= (p.Ile822=) c.1982T= (p.Ile661=) c.1877T= (p.Ile626=) | |
| 3 | g.122284420T>A | CA435425167 | CASR | c.2235T>A (p.Ile745=) c.2496T>A (p.Ile832=) c.2466T>A (p.Ile822=) c.1983T>A (p.Ile661=) c.1878T>A (p.Ile626=) | |
| 3 | g.122284420T>C | CA2569828 | CASR | c.2235T>C (p.Ile745=) c.2496T>C (p.Ile832=) c.2466T>C (p.Ile822=) c.1983T>C (p.Ile661=) c.1878T>C (p.Ile626=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284420T>G | CA354159977 | CASR | c.2235T>G (p.Ile745Met) c.2496T>G (p.Ile832Met) c.2466T>G (p.Ile822Met) c.1983T>G (p.Ile661Met) c.1878T>G (p.Ile626Met) | |
| 3 | g.122284420T= | CA1397872379 | CASR | c.2235T= (p.Ile745=) c.2496T= (p.Ile832=) c.2466T= (p.Ile822=) c.1983T= (p.Ile661=) c.1878T= (p.Ile626=) | |
| 3 | g.122284421C>A | CA354159979 | CASR | c.2236C>A (p.Pro746Thr) c.2497C>A (p.Pro833Thr) c.2467C>A (p.Pro823Thr) c.1984C>A (p.Pro662Thr) c.1879C>A (p.Pro627Thr) | |
| 3 | g.122284421C= | CA1397872382 | CASR | c.2236C= (p.Pro746=) c.2497C= (p.Pro833=) c.2467C= (p.Pro823=) c.1984C= (p.Pro662=) c.1879C= (p.Pro627=) | |
| 3 | g.122284421C>G | CA354159981 | CASR | c.2236C>G (p.Pro746Ala) c.2497C>G (p.Pro833Ala) c.2467C>G (p.Pro823Ala) c.1984C>G (p.Pro662Ala) c.1879C>G (p.Pro627Ala) | |
| 3 | g.122284421C>T | CA354159983 | CASR | c.2236C>T (p.Pro746Ser) c.2497C>T (p.Pro833Ser) c.2467C>T (p.Pro823Ser) c.1984C>T (p.Pro662Ser) c.1879C>T (p.Pro627Ser) | ClinVar dbSNP COSMIC |
| 3 | g.122284422C>A | CA354159989 | CASR | c.2237C>A (p.Pro746Gln) c.2498C>A (p.Pro833Gln) c.2468C>A (p.Pro823Gln) c.1985C>A (p.Pro662Gln) c.1880C>A (p.Pro627Gln) | |
| 3 | g.122284422C>G | CA354159985 | CASR | c.2237C>G (p.Pro746Arg) c.2498C>G (p.Pro833Arg) c.2468C>G (p.Pro823Arg) c.1985C>G (p.Pro662Arg) c.1880C>G (p.Pro627Arg) | |
| 3 | g.122284422C>T | CA354159986 | CASR | c.2237C>T (p.Pro746Leu) c.2498C>T (p.Pro833Leu) c.2468C>T (p.Pro823Leu) c.1985C>T (p.Pro662Leu) c.1880C>T (p.Pro627Leu) | |
| 3 | g.122284423A>C | CA435425182 | CASR | c.2238A>C (p.Pro746=) c.2499A>C (p.Pro833=) c.2469A>C (p.Pro823=) c.1986A>C (p.Pro662=) c.1881A>C (p.Pro627=) | |
| 3 | g.122284423A>G | CA435425178 | CASR | c.2238A>G (p.Pro746=) c.2499A>G (p.Pro833=) c.2469A>G (p.Pro823=) c.1986A>G (p.Pro662=) c.1881A>G (p.Pro627=) | |
| 3 | g.122284423A>T | CA435425175 | CASR | c.2238A>T (p.Pro746=) c.2499A>T (p.Pro833=) c.2469A>T (p.Pro823=) c.1986A>T (p.Pro662=) c.1881A>T (p.Pro627=) | |
| 3 | g.122284424G>A | CA354159991 | CASR | c.2239G>A (p.Ala747Thr) c.2500G>A (p.Ala834Thr) c.2470G>A (p.Ala824Thr) c.1987G>A (p.Ala663Thr) c.1882G>A (p.Ala628Thr) | ClinVar dbSNP COSMIC |
| 3 | g.122284424G>C | CA354159993 | CASR | c.2239G>C (p.Ala747Pro) c.2500G>C (p.Ala834Pro) c.2470G>C (p.Ala824Pro) c.1987G>C (p.Ala663Pro) c.1882G>C (p.Ala628Pro) | ClinVar |
| 3 | g.122284424G>T | CA354159995 | CASR | c.2239G>T (p.Ala747Ser) c.2500G>T (p.Ala834Ser) c.2470G>T (p.Ala824Ser) c.1987G>T (p.Ala663Ser) c.1882G>T (p.Ala628Ser) | |
| 3 | g.122284425C>A | CA354159996 | CASR | c.2240C>A (p.Ala747Asp) c.2501C>A (p.Ala834Asp) c.2471C>A (p.Ala824Asp) c.1988C>A (p.Ala663Asp) c.1883C>A (p.Ala628Asp) | |
| 3 | g.122284425C= | CA1397872385 | CASR | c.2240C= (p.Ala747=) c.2501C= (p.Ala834=) c.2471C= (p.Ala824=) c.1988C= (p.Ala663=) c.1883C= (p.Ala628=) | |
| 3 | g.122284425C>G | CA354159998 | CASR | c.2240C>G (p.Ala747Gly) c.2501C>G (p.Ala834Gly) c.2471C>G (p.Ala824Gly) c.1988C>G (p.Ala663Gly) c.1883C>G (p.Ala628Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284425C>T | CA354159999 | CASR | c.2240C>T (p.Ala747Val) c.2501C>T (p.Ala834Val) c.2471C>T (p.Ala824Val) c.1988C>T (p.Ala663Val) c.1883C>T (p.Ala628Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284426C>A | CA435425187 | CASR | c.2241C>A (p.Ala747=) c.2502C>A (p.Ala834=) c.2472C>A (p.Ala824=) c.1989C>A (p.Ala663=) c.1884C>A (p.Ala628=) | |
| 3 | g.122284426C>G | CA435425188 | CASR | c.2241C>G (p.Ala747=) c.2502C>G (p.Ala834=) c.2472C>G (p.Ala824=) c.1989C>G (p.Ala663=) c.1884C>G (p.Ala628=) | |
| 3 | g.122284426C>T | CA435425190 | CASR | c.2241C>T (p.Ala747=) c.2502C>T (p.Ala834=) c.2472C>T (p.Ala824=) c.1989C>T (p.Ala663=) c.1884C>T (p.Ala628=) | ClinVar dbSNP COSMIC |
| 3 | g.122284427T>A | CA354160000 | CASR | c.2242T>A (p.Tyr748Asn) c.2503T>A (p.Tyr835Asn) c.2473T>A (p.Tyr825Asn) c.1990T>A (p.Tyr664Asn) c.1885T>A (p.Tyr629Asn) | |
| 3 | g.122284427T>C | CA354160002 | CASR | c.2242T>C (p.Tyr748His) c.2503T>C (p.Tyr835His) c.2473T>C (p.Tyr825His) c.1990T>C (p.Tyr664His) c.1885T>C (p.Tyr629His) | |
| 3 | g.122284427T>G | CA354160004 | CASR | c.2242T>G (p.Tyr748Asp) c.2503T>G (p.Tyr835Asp) c.2473T>G (p.Tyr825Asp) c.1990T>G (p.Tyr664Asp) c.1885T>G (p.Tyr629Asp) | |
| 3 | g.122284428A= | CA1397872387 | CASR | c.2243A= (p.Tyr748=) c.2504A= (p.Tyr835=) c.2474A= (p.Tyr825=) c.1991A= (p.Tyr664=) c.1886A= (p.Tyr629=) | |
| 3 | g.122284428A>C | CA354160006 | CASR | c.2243A>C (p.Tyr748Ser) c.2504A>C (p.Tyr835Ser) c.2474A>C (p.Tyr825Ser) c.1991A>C (p.Tyr664Ser) c.1886A>C (p.Tyr629Ser) | |
| 3 | g.122284428A>G | CA2569829 | CASR | c.2243A>G (p.Tyr748Cys) c.2504A>G (p.Tyr835Cys) c.2474A>G (p.Tyr825Cys) c.1991A>G (p.Tyr664Cys) c.1886A>G (p.Tyr629Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284428A>T | CA354160010 | CASR | c.2243A>T (p.Tyr748Phe) c.2504A>T (p.Tyr835Phe) c.2474A>T (p.Tyr825Phe) c.1991A>T (p.Tyr664Phe) c.1886A>T (p.Tyr629Phe) | |
| 3 | g.122284429T>A | CA354160011 | CASR | c.2244T>A (p.Tyr748Ter) c.2505T>A (p.Tyr835Ter) c.2475T>A (p.Tyr825Ter) c.1992T>A (p.Tyr664Ter) c.1887T>A (p.Tyr629Ter) | |
| 3 | g.122284429T>C | CA435425194 | CASR | c.2244T>C (p.Tyr748=) c.2505T>C (p.Tyr835=) c.2475T>C (p.Tyr825=) c.1992T>C (p.Tyr664=) c.1887T>C (p.Tyr629=) | ClinVar |
| 3 | g.122284429T>G | CA354160012 | CASR | c.2244T>G (p.Tyr748Ter) c.2505T>G (p.Tyr835Ter) c.2475T>G (p.Tyr825Ter) c.1992T>G (p.Tyr664Ter) c.1887T>G (p.Tyr629Ter) | |
| 3 | g.122284430G>A | CA354160013 | CASR | c.2245G>A (p.Ala749Thr) c.2506G>A (p.Ala836Thr) c.2476G>A (p.Ala826Thr) c.1993G>A (p.Ala665Thr) c.1888G>A (p.Ala630Thr) | |
| 3 | g.122284430G>C | CA354160014 | CASR | c.2245G>C (p.Ala749Pro) c.2506G>C (p.Ala836Pro) c.2476G>C (p.Ala826Pro) c.1993G>C (p.Ala665Pro) c.1888G>C (p.Ala630Pro) | |
| 3 | g.122284430G>T | CA354160016 | CASR | c.2245G>T (p.Ala749Ser) c.2506G>T (p.Ala836Ser) c.2476G>T (p.Ala826Ser) c.1993G>T (p.Ala665Ser) c.1888G>T (p.Ala630Ser) | |
| 3 | g.122284431C>A | CA354160018 | CASR | c.2246C>A (p.Ala749Asp) c.2507C>A (p.Ala836Asp) c.2477C>A (p.Ala826Asp) c.1994C>A (p.Ala665Asp) c.1889C>A (p.Ala630Asp) | |
| 3 | g.122284431C= | CA1397872390 | CASR | c.2246C= (p.Ala749=) c.2507C= (p.Ala836=) c.2477C= (p.Ala826=) c.1994C= (p.Ala665=) c.1889C= (p.Ala630=) | |
| 3 | g.122284431C>G | CA354160020 | CASR | c.2246C>G (p.Ala749Gly) c.2507C>G (p.Ala836Gly) c.2477C>G (p.Ala826Gly) c.1994C>G (p.Ala665Gly) c.1889C>G (p.Ala630Gly) | ClinVar dbSNP |
| 3 | g.122284431C>T | CA354160022 | CASR | c.2246C>T (p.Ala749Val) c.2507C>T (p.Ala836Val) c.2477C>T (p.Ala826Val) c.1994C>T (p.Ala665Val) c.1889C>T (p.Ala630Val) | ClinVar dbSNP |
| 3 | g.122284432C>A | CA435425197 | CASR | c.2247C>A (p.Ala749=) c.2508C>A (p.Ala836=) c.2478C>A (p.Ala826=) c.1995C>A (p.Ala665=) c.1890C>A (p.Ala630=) | |
| 3 | g.122284432C>G | CA435425201 | CASR | c.2247C>G (p.Ala749=) c.2508C>G (p.Ala836=) c.2478C>G (p.Ala826=) c.1995C>G (p.Ala665=) c.1890C>G (p.Ala630=) | |
| 3 | g.122284432C>T | CA435425204 | CASR | c.2247C>T (p.Ala749=) c.2508C>T (p.Ala836=) c.2478C>T (p.Ala826=) c.1995C>T (p.Ala665=) c.1890C>T (p.Ala630=) | |
| 3 | g.122284433A>C | CA354160028 | CASR | c.2248A>C (p.Ser750Arg) c.2509A>C (p.Ser837Arg) c.2479A>C (p.Ser827Arg) c.1996A>C (p.Ser666Arg) c.1891A>C (p.Ser631Arg) | |
| 3 | g.122284433A>G | CA354160024 | CASR | c.2248A>G (p.Ser750Gly) c.2509A>G (p.Ser837Gly) c.2479A>G (p.Ser827Gly) c.1996A>G (p.Ser666Gly) c.1891A>G (p.Ser631Gly) | |
| 3 | g.122284433A>T | CA354160026 | CASR | c.2248A>T (p.Ser750Cys) c.2509A>T (p.Ser837Cys) c.2479A>T (p.Ser827Cys) c.1996A>T (p.Ser666Cys) c.1891A>T (p.Ser631Cys) | |
| 3 | g.122284434G>A | CA354160030 | CASR | c.2249G>A (p.Ser750Asn) c.2510G>A (p.Ser837Asn) c.2480G>A (p.Ser827Asn) c.1997G>A (p.Ser666Asn) c.1892G>A (p.Ser631Asn) | ClinVar |
| 3 | g.122284434G>C | CA354160032 | CASR | c.2249G>C (p.Ser750Thr) c.2510G>C (p.Ser837Thr) c.2480G>C (p.Ser827Thr) c.1997G>C (p.Ser666Thr) c.1892G>C (p.Ser631Thr) | |
| 3 | g.122284434G>T | CA354160034 | CASR | c.2249G>T (p.Ser750Ile) c.2510G>T (p.Ser837Ile) c.2480G>T (p.Ser827Ile) c.1997G>T (p.Ser666Ile) c.1892G>T (p.Ser631Ile) | |
| 3 | g.122284435C>A | CA354160036 | CASR | c.2250C>A (p.Ser750Arg) c.2511C>A (p.Ser837Arg) c.2481C>A (p.Ser827Arg) c.1998C>A (p.Ser666Arg) c.1893C>A (p.Ser631Arg) | |
| 3 | g.122284435C>G | CA354160038 | CASR | c.2250C>G (p.Ser750Arg) c.2511C>G (p.Ser837Arg) c.2481C>G (p.Ser827Arg) c.1998C>G (p.Ser666Arg) c.1893C>G (p.Ser631Arg) | |
| 3 | g.122284435C>T | CA435425208 | CASR | c.2250C>T (p.Ser750=) c.2511C>T (p.Ser837=) c.2481C>T (p.Ser827=) c.1998C>T (p.Ser666=) c.1893C>T (p.Ser631=) | |
| 3 | g.122284436A= | CA1397872393 | CASR | c.2251A= (p.Thr751=) c.2512A= (p.Thr838=) c.2482A= (p.Thr828=) c.1999A= (p.Thr667=) c.1894A= (p.Thr632=) | |
| 3 | g.122284436A>C | CA203861 | CASR | c.2251A>C (p.Thr751Pro) c.2512A>C (p.Thr838Pro) c.2482A>C (p.Thr828Pro) c.1999A>C (p.Thr667Pro) c.1894A>C (p.Thr632Pro) | ClinVar dbSNP |
| 3 | g.122284436A>G | CA354160042 | CASR | c.2251A>G (p.Thr751Ala) c.2512A>G (p.Thr838Ala) c.2482A>G (p.Thr828Ala) c.1999A>G (p.Thr667Ala) c.1894A>G (p.Thr632Ala) | gnomAD v4 |
| 3 | g.122284436A>T | CA354160040 | CASR | c.2251A>T (p.Thr751Ser) c.2512A>T (p.Thr838Ser) c.2482A>T (p.Thr828Ser) c.1999A>T (p.Thr667Ser) c.1894A>T (p.Thr632Ser) | |
| 3 | g.122284437C>A | CA354160045 | CASR | c.2252C>A (p.Thr751Asn) c.2513C>A (p.Thr838Asn) c.2483C>A (p.Thr828Asn) c.2000C>A (p.Thr667Asn) c.1895C>A (p.Thr632Asn) | |
| 3 | g.122284437C>G | CA354160047 | CASR | c.2252C>G (p.Thr751Ser) c.2513C>G (p.Thr838Ser) c.2483C>G (p.Thr828Ser) c.2000C>G (p.Thr667Ser) c.1895C>G (p.Thr632Ser) | |
| 3 | g.122284437C>T | CA354160048 | CASR | c.2252C>T (p.Thr751Ile) c.2513C>T (p.Thr838Ile) c.2483C>T (p.Thr828Ile) c.2000C>T (p.Thr667Ile) c.1895C>T (p.Thr632Ile) | gnomAD v4 |
| 3 | g.122284438C>A | CA435425212 | CASR | c.2253C>A (p.Thr751=) c.2514C>A (p.Thr838=) c.2484C>A (p.Thr828=) c.2001C>A (p.Thr667=) c.1896C>A (p.Thr632=) | ClinVar |
| 3 | g.122284438C>G | CA435425213 | CASR | c.2253C>G (p.Thr751=) c.2514C>G (p.Thr838=) c.2484C>G (p.Thr828=) c.2001C>G (p.Thr667=) c.1896C>G (p.Thr632=) | |
| 3 | g.122284438C>T | CA435425214 | CASR | c.2253C>T (p.Thr751=) c.2514C>T (p.Thr838=) c.2484C>T (p.Thr828=) c.2001C>T (p.Thr667=) c.1896C>T (p.Thr632=) | |
| 3 | g.122284439T>A | CA354160052 | CASR | c.2254T>A (p.Tyr752Asn) c.2515T>A (p.Tyr839Asn) c.2485T>A (p.Tyr829Asn) c.2002T>A (p.Tyr668Asn) c.1897T>A (p.Tyr633Asn) | |
| 3 | g.122284439T>C | CA354160053 | CASR | c.2254T>C (p.Tyr752His) c.2515T>C (p.Tyr839His) c.2485T>C (p.Tyr829His) c.2002T>C (p.Tyr668His) c.1897T>C (p.Tyr633His) | gnomAD v4 COSMIC |
| 3 | g.122284439T>G | CA354160054 | CASR | c.2254T>G (p.Tyr752Asp) c.2515T>G (p.Tyr839Asp) c.2485T>G (p.Tyr829Asp) c.2002T>G (p.Tyr668Asp) c.1897T>G (p.Tyr633Asp) | |
| 3 | g.122284440A>C | CA354160055 | CASR | c.2255A>C (p.Tyr752Ser) c.2516A>C (p.Tyr839Ser) c.2486A>C (p.Tyr829Ser) c.2003A>C (p.Tyr668Ser) c.1898A>C (p.Tyr633Ser) | |
| 3 | g.122284440A>G | CA354160056 | CASR | c.2255A>G (p.Tyr752Cys) c.2516A>G (p.Tyr839Cys) c.2486A>G (p.Tyr829Cys) c.2003A>G (p.Tyr668Cys) c.1898A>G (p.Tyr633Cys) | |
| 3 | g.122284440A>T | CA354160057 | CASR | c.2255A>T (p.Tyr752Phe) c.2516A>T (p.Tyr839Phe) c.2486A>T (p.Tyr829Phe) c.2003A>T (p.Tyr668Phe) c.1898A>T (p.Tyr633Phe) | |
| 3 | g.122284441T>A | CA354160058 | CASR | c.2256T>A (p.Tyr752Ter) c.2517T>A (p.Tyr839Ter) c.2487T>A (p.Tyr829Ter) c.2004T>A (p.Tyr668Ter) c.1899T>A (p.Tyr633Ter) | |
| 3 | g.122284441T>C | CA435425219 | CASR | c.2256T>C (p.Tyr752=) c.2517T>C (p.Tyr839=) c.2487T>C (p.Tyr829=) c.2004T>C (p.Tyr668=) c.1899T>C (p.Tyr633=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284441T>G | CA354160059 | CASR | c.2256T>G (p.Tyr752Ter) c.2517T>G (p.Tyr839Ter) c.2487T>G (p.Tyr829Ter) c.2004T>G (p.Tyr668Ter) c.1899T>G (p.Tyr633Ter) | |
| 3 | g.122284442G>A | CA354160062 | CASR | c.2257G>A (p.Gly753Ser) c.2518G>A (p.Gly840Ser) c.2488G>A (p.Gly830Ser) c.2005G>A (p.Gly669Ser) c.1900G>A (p.Gly634Ser) | |
| 3 | g.122284442G>C | CA354160061 | CASR | c.2257G>C (p.Gly753Arg) c.2518G>C (p.Gly840Arg) c.2488G>C (p.Gly830Arg) c.2005G>C (p.Gly669Arg) c.1900G>C (p.Gly634Arg) | |
| 3 | g.122284442G>T | CA354160060 | CASR | c.2257G>T (p.Gly753Cys) c.2518G>T (p.Gly840Cys) c.2488G>T (p.Gly830Cys) c.2005G>T (p.Gly669Cys) c.1900G>T (p.Gly634Cys) | |
| 3 | g.122284443del | CA2667224629 | CASR | c.2258del (p.Gly753AlafsTer7) c.2519del (p.Gly840AlafsTer7) c.2489del (p.Gly830AlafsTer7) c.2006del (p.Gly669AlafsTer7) c.1901del (p.Gly634AlafsTer7) | gnomAD v4 |
| 3 | g.122284443G>A | CA213588 | CASR | c.2258G>A (p.Gly753Asp) c.2519G>A (p.Gly840Asp) c.2489G>A (p.Gly830Asp) c.2006G>A (p.Gly669Asp) c.1901G>A (p.Gly634Asp) | ClinVar dbSNP COSMIC |
| 3 | g.122284443G>C | CA354160064 | CASR | c.2258G>C (p.Gly753Ala) c.2519G>C (p.Gly840Ala) c.2489G>C (p.Gly830Ala) c.2006G>C (p.Gly669Ala) c.1901G>C (p.Gly634Ala) | |
| 3 | g.122284443G= | CA1397872398 | CASR | c.2258G= (p.Gly753=) c.2519G= (p.Gly840=) c.2489G= (p.Gly830=) c.2006G= (p.Gly669=) c.1901G= (p.Gly634=) | |
| 3 | g.122284443G>T | CA354160063 | CASR | c.2258G>T (p.Gly753Val) c.2519G>T (p.Gly840Val) c.2489G>T (p.Gly830Val) c.2006G>T (p.Gly669Val) c.1901G>T (p.Gly634Val) | |
| 3 | g.122284444C>A | CA435425230 | CASR | c.2259C>A (p.Gly753=) c.2520C>A (p.Gly840=) c.2490C>A (p.Gly830=) c.2007C>A (p.Gly669=) c.1902C>A (p.Gly634=) | ClinVar |
| 3 | g.122284444C>G | CA435425224 | CASR | c.2259C>G (p.Gly753=) c.2520C>G (p.Gly840=) c.2490C>G (p.Gly830=) c.2007C>G (p.Gly669=) c.1902C>G (p.Gly634=) | |
| 3 | g.122284444C>T | CA435425227 | CASR | c.2259C>T (p.Gly753=) c.2520C>T (p.Gly840=) c.2490C>T (p.Gly830=) c.2007C>T (p.Gly669=) c.1902C>T (p.Gly634=) | |
| 3 | g.122284445A>C | CA354160065 | CASR | c.2260A>C (p.Lys754Gln) c.2521A>C (p.Lys841Gln) c.2491A>C (p.Lys831Gln) c.2008A>C (p.Lys670Gln) c.1903A>C (p.Lys635Gln) | |
| 3 | g.122284445A>G | CA354160066 | CASR | c.2260A>G (p.Lys754Glu) c.2521A>G (p.Lys841Glu) c.2491A>G (p.Lys831Glu) c.2008A>G (p.Lys670Glu) c.1903A>G (p.Lys635Glu) | |
| 3 | g.122284445A>T | CA354160067 | CASR | c.2260A>T (p.Lys754Ter) c.2521A>T (p.Lys841Ter) c.2491A>T (p.Lys831Ter) c.2008A>T (p.Lys670Ter) c.1903A>T (p.Lys635Ter) | |
| 3 | g.122284446A>C | CA354160068 | CASR | c.2261A>C (p.Lys754Thr) c.2522A>C (p.Lys841Thr) c.2492A>C (p.Lys831Thr) c.2009A>C (p.Lys670Thr) c.1904A>C (p.Lys635Thr) | |
| 3 | g.122284446A>G | CA354160069 | CASR | c.2261A>G (p.Lys754Arg) c.2522A>G (p.Lys841Arg) c.2492A>G (p.Lys831Arg) c.2009A>G (p.Lys670Arg) c.1904A>G (p.Lys635Arg) | |
| 3 | g.122284446A>T | CA354160070 | CASR | c.2261A>T (p.Lys754Met) c.2522A>T (p.Lys841Met) c.2492A>T (p.Lys831Met) c.2009A>T (p.Lys670Met) c.1904A>T (p.Lys635Met) | |
| 3 | g.122284447G>A | CA435425239 | CASR | c.2262G>A (p.Lys754=) c.2523G>A (p.Lys841=) c.2493G>A (p.Lys831=) c.2010G>A (p.Lys670=) c.1905G>A (p.Lys635=) | |
| 3 | g.122284447G>C | CA354160071 | CASR | c.2262G>C (p.Lys754Asn) c.2523G>C (p.Lys841Asn) c.2493G>C (p.Lys831Asn) c.2010G>C (p.Lys670Asn) c.1905G>C (p.Lys635Asn) | |
| 3 | g.122284447G>T | CA354160072 | CASR | c.2262G>T (p.Lys754Asn) c.2523G>T (p.Lys841Asn) c.2493G>T (p.Lys831Asn) c.2010G>T (p.Lys670Asn) c.1905G>T (p.Lys635Asn) | |
| 3 | g.122284448T>A | CA354160073 | CASR | c.2263T>A (p.Phe755Ile) c.2524T>A (p.Phe842Ile) c.2494T>A (p.Phe832Ile) c.2011T>A (p.Phe671Ile) c.1906T>A (p.Phe636Ile) | |
| 3 | g.122284448T>C | CA354160074 | CASR | c.2263T>C (p.Phe755Leu) c.2524T>C (p.Phe842Leu) c.2494T>C (p.Phe832Leu) c.2011T>C (p.Phe671Leu) c.1906T>C (p.Phe636Leu) | |
| 3 | g.122284448T>G | CA354160075 | CASR | c.2263T>G (p.Phe755Val) c.2524T>G (p.Phe842Val) c.2494T>G (p.Phe832Val) c.2011T>G (p.Phe671Val) c.1906T>G (p.Phe636Val) | |
| 3 | g.122284449T>A | CA354160078 | CASR | c.2264T>A (p.Phe755Tyr) c.2525T>A (p.Phe842Tyr) c.2495T>A (p.Phe832Tyr) c.2012T>A (p.Phe671Tyr) c.1907T>A (p.Phe636Tyr) | |
| 3 | g.122284449T>C | CA354160076 | CASR | c.2264T>C (p.Phe755Ser) c.2525T>C (p.Phe842Ser) c.2495T>C (p.Phe832Ser) c.2012T>C (p.Phe671Ser) c.1907T>C (p.Phe636Ser) | ClinVar dbSNP |
| 3 | g.122284449T>G | CA354160077 | CASR | c.2264T>G (p.Phe755Cys) c.2525T>G (p.Phe842Cys) c.2495T>G (p.Phe832Cys) c.2012T>G (p.Phe671Cys) c.1907T>G (p.Phe636Cys) | |
| 3 | g.122284450T>A | CA354160079 | CASR | c.2265T>A (p.Phe755Leu) c.2526T>A (p.Phe842Leu) c.2496T>A (p.Phe832Leu) c.2013T>A (p.Phe671Leu) c.1908T>A (p.Phe636Leu) | |
| 3 | g.122284450T>C | CA435425245 | CASR | c.2265T>C (p.Phe755=) c.2526T>C (p.Phe842=) c.2496T>C (p.Phe832=) c.2013T>C (p.Phe671=) c.1908T>C (p.Phe636=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284450T>G | CA354160080 | CASR | c.2265T>G (p.Phe755Leu) c.2526T>G (p.Phe842Leu) c.2496T>G (p.Phe832Leu) c.2013T>G (p.Phe671Leu) c.1908T>G (p.Phe636Leu) | |
| 3 | g.122284450T= | CA1397872402 | CASR | c.2265T= (p.Phe755=) c.2526T= (p.Phe842=) c.2496T= (p.Phe832=) c.2013T= (p.Phe671=) c.1908T= (p.Phe636=) | |
| 3 | g.122284451G>A | CA354160081 | CASR | c.2266G>A (p.Val756Ile) c.2527G>A (p.Val843Ile) c.2497G>A (p.Val833Ile) c.2014G>A (p.Val672Ile) c.1909G>A (p.Val637Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284451G>C | CA354160082 | CASR | c.2266G>C (p.Val756Leu) c.2527G>C (p.Val843Leu) c.2497G>C (p.Val833Leu) c.2014G>C (p.Val672Leu) c.1909G>C (p.Val637Leu) | ClinVar dbSNP |
| 3 | g.122284451G= | CA1397872404 | CASR | c.2266G= (p.Val756=) c.2527G= (p.Val843=) c.2497G= (p.Val833=) c.2014G= (p.Val672=) c.1909G= (p.Val637=) | |
| 3 | g.122284451G>T | CA354160083 | CASR | c.2266G>T (p.Val756Phe) c.2527G>T (p.Val843Phe) c.2497G>T (p.Val833Phe) c.2014G>T (p.Val672Phe) c.1909G>T (p.Val637Phe) | |
| 3 | g.122284452T>A | CA354160084 | CASR | c.2267T>A (p.Val756Asp) c.2528T>A (p.Val843Asp) c.2498T>A (p.Val833Asp) c.2015T>A (p.Val672Asp) c.1910T>A (p.Val637Asp) | |
| 3 | g.122284452T>C | CA354160085 | CASR | c.2267T>C (p.Val756Ala) c.2528T>C (p.Val843Ala) c.2498T>C (p.Val833Ala) c.2015T>C (p.Val672Ala) c.1910T>C (p.Val637Ala) | |
| 3 | g.122284452T>G | CA354160086 | CASR | c.2267T>G (p.Val756Gly) c.2528T>G (p.Val843Gly) c.2498T>G (p.Val833Gly) c.2015T>G (p.Val672Gly) c.1910T>G (p.Val637Gly) | |
| 3 | g.122284453C>A | CA435425251 | CASR | c.2268C>A (p.Val756=) c.2529C>A (p.Val843=) c.2499C>A (p.Val833=) c.2016C>A (p.Val672=) c.1911C>A (p.Val637=) | |
| 3 | g.122284453C= | CA1397872408 | CASR | c.2268C= (p.Val756=) c.2529C= (p.Val843=) c.2499C= (p.Val833=) c.2016C= (p.Val672=) c.1911C= (p.Val637=) | |
| 3 | g.122284453C>G | CA435425252 | CASR | c.2268C>G (p.Val756=) c.2529C>G (p.Val843=) c.2499C>G (p.Val833=) c.2016C>G (p.Val672=) c.1911C>G (p.Val637=) | ClinVar dbSNP |
| 3 | g.122284453C>T | CA435425253 | CASR | c.2268C>T (p.Val756=) c.2529C>T (p.Val843=) c.2499C>T (p.Val833=) c.2016C>T (p.Val672=) c.1911C>T (p.Val637=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284454T>A | CA354160087 | CASR | c.2269T>A (p.Ser757Thr) c.2530T>A (p.Ser844Thr) c.2500T>A (p.Ser834Thr) c.2017T>A (p.Ser673Thr) c.1912T>A (p.Ser638Thr) | |
| 3 | g.122284454T>C | CA354160088 | CASR | c.2269T>C (p.Ser757Pro) c.2530T>C (p.Ser844Pro) c.2500T>C (p.Ser834Pro) c.2017T>C (p.Ser673Pro) c.1912T>C (p.Ser638Pro) | |
| 3 | g.122284454T>G | CA354160089 | CASR | c.2269T>G (p.Ser757Ala) c.2530T>G (p.Ser844Ala) c.2500T>G (p.Ser834Ala) c.2017T>G (p.Ser673Ala) c.1912T>G (p.Ser638Ala) | |
| 3 | g.122284455del | CA2586972871 | CASR | c.2270del (p.Ser757LeufsTer3) c.2531del (p.Ser844LeufsTer3) c.2501del (p.Ser834LeufsTer3) c.2018del (p.Ser673LeufsTer3) c.1913del (p.Ser638LeufsTer3) | |
| 3 | g.122284455C>A | CA354160091 | CASR | c.2270C>A (p.Ser757Tyr) c.2531C>A (p.Ser844Tyr) c.2501C>A (p.Ser834Tyr) c.2018C>A (p.Ser673Tyr) c.1913C>A (p.Ser638Tyr) | |
| 3 | g.122284455C= | CA1397872413 | CASR | c.2270C= (p.Ser757=) c.2531C= (p.Ser844=) c.2501C= (p.Ser834=) c.2018C= (p.Ser673=) c.1913C= (p.Ser638=) | |
| 3 | g.122284455C>G | CA354160092 | CASR | c.2270C>G (p.Ser757Cys) c.2531C>G (p.Ser844Cys) c.2501C>G (p.Ser834Cys) c.2018C>G (p.Ser673Cys) c.1913C>G (p.Ser638Cys) | |
| 3 | g.122284455C>T | CA354160090 | CASR | c.2270C>T (p.Ser757Phe) c.2531C>T (p.Ser844Phe) c.2501C>T (p.Ser834Phe) c.2018C>T (p.Ser673Phe) c.1913C>T (p.Ser638Phe) | ClinVar dbSNP |
| 3 | g.122284456T>A | CA435425260 | CASR | c.2271T>A (p.Ser757=) c.2532T>A (p.Ser844=) c.2502T>A (p.Ser834=) c.2019T>A (p.Ser673=) c.1914T>A (p.Ser638=) | |
| 3 | g.122284456T>C | CA435425262 | CASR | c.2271T>C (p.Ser757=) c.2532T>C (p.Ser844=) c.2502T>C (p.Ser834=) c.2019T>C (p.Ser673=) c.1914T>C (p.Ser638=) | |
| 3 | g.122284456T>G | CA435425263 | CASR | c.2271T>G (p.Ser757=) c.2532T>G (p.Ser844=) c.2502T>G (p.Ser834=) c.2019T>G (p.Ser673=) c.1914T>G (p.Ser638=) | |
| 3 | g.122284457G>A | CA354160093 | CASR | c.2272G>A (p.Ala758Thr) c.2533G>A (p.Ala845Thr) c.2503G>A (p.Ala835Thr) c.2020G>A (p.Ala674Thr) c.1915G>A (p.Ala639Thr) | ClinVar dbSNP |
| 3 | g.122284457G>C | CA354160094 | CASR | c.2272G>C (p.Ala758Pro) c.2533G>C (p.Ala845Pro) c.2503G>C (p.Ala835Pro) c.2020G>C (p.Ala674Pro) c.1915G>C (p.Ala639Pro) | ClinVar dbSNP |
| 3 | g.122284457G= | CA1397872417 | CASR | c.2272G= (p.Ala758=) c.2533G= (p.Ala845=) c.2503G= (p.Ala835=) c.2020G= (p.Ala674=) c.1915G= (p.Ala639=) | |
| 3 | g.122284457G>T | CA354160095 | CASR | c.2272G>T (p.Ala758Ser) c.2533G>T (p.Ala845Ser) c.2503G>T (p.Ala835Ser) c.2020G>T (p.Ala674Ser) c.1915G>T (p.Ala639Ser) | |
| 3 | g.122284458C>A | CA354160096 | CASR | c.2273C>A (p.Ala758Asp) c.2534C>A (p.Ala845Asp) c.2504C>A (p.Ala835Asp) c.2021C>A (p.Ala674Asp) c.1916C>A (p.Ala639Asp) | |
| 3 | g.122284458C>G | CA354160097 | CASR | c.2273C>G (p.Ala758Gly) c.2534C>G (p.Ala845Gly) c.2504C>G (p.Ala835Gly) c.2021C>G (p.Ala674Gly) c.1916C>G (p.Ala639Gly) | |
| 3 | g.122284458C>T | CA354160098 | CASR | c.2273C>T (p.Ala758Val) c.2534C>T (p.Ala845Val) c.2504C>T (p.Ala835Val) c.2021C>T (p.Ala674Val) c.1916C>T (p.Ala639Val) | |
| 3 | g.122284459C>A | CA435425271 | CASR | c.2274C>A (p.Ala758=) c.2535C>A (p.Ala845=) c.2505C>A (p.Ala835=) c.2022C>A (p.Ala674=) c.1917C>A (p.Ala639=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284459C= | CA1397872423 | CASR | c.2274C= (p.Ala758=) c.2535C= (p.Ala845=) c.2505C= (p.Ala835=) c.2022C= (p.Ala674=) c.1917C= (p.Ala639=) | |
| 3 | g.122284459C>G | CA435425273 | CASR | c.2274C>G (p.Ala758=) c.2535C>G (p.Ala845=) c.2505C>G (p.Ala835=) c.2022C>G (p.Ala674=) c.1917C>G (p.Ala639=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284459C>T | CA435425275 | CASR | c.2274C>T (p.Ala758=) c.2535C>T (p.Ala845=) c.2505C>T (p.Ala835=) c.2022C>T (p.Ala674=) c.1917C>T (p.Ala639=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284460G>A | CA354160099 | CASR | c.2275G>A (p.Val759Ile) c.2536G>A (p.Val846Ile) c.2506G>A (p.Val836Ile) c.2023G>A (p.Val675Ile) c.1918G>A (p.Val640Ile) | ClinVar dbSNP COSMIC |
| 3 | g.122284460G>C | CA354160100 | CASR | c.2275G>C (p.Val759Leu) c.2536G>C (p.Val846Leu) c.2506G>C (p.Val836Leu) c.2023G>C (p.Val675Leu) c.1918G>C (p.Val640Leu) | ClinVar dbSNP |
| 3 | g.122284460G>T | CA354160101 | CASR | c.2275G>T (p.Val759Leu) c.2536G>T (p.Val846Leu) c.2506G>T (p.Val836Leu) c.2023G>T (p.Val675Leu) c.1918G>T (p.Val640Leu) | ClinVar dbSNP |
| 3 | g.122284461T>A | CA354160102 | CASR | c.2276T>A (p.Val759Glu) c.2537T>A (p.Val846Glu) c.2507T>A (p.Val836Glu) c.2024T>A (p.Val675Glu) c.1919T>A (p.Val640Glu) | |
| 3 | g.122284461T>C | CA354160103 | CASR | c.2276T>C (p.Val759Ala) c.2537T>C (p.Val846Ala) c.2507T>C (p.Val836Ala) c.2024T>C (p.Val675Ala) c.1919T>C (p.Val640Ala) | |
| 3 | g.122284461T>G | CA354160104 | CASR | c.2276T>G (p.Val759Gly) c.2537T>G (p.Val846Gly) c.2507T>G (p.Val836Gly) c.2024T>G (p.Val675Gly) c.1919T>G (p.Val640Gly) | |
| 3 | g.122284462A>C | CA435425280 | CASR | c.2277A>C (p.Val759=) c.2538A>C (p.Val846=) c.2508A>C (p.Val836=) c.2025A>C (p.Val675=) c.1920A>C (p.Val640=) | |
| 3 | g.122284462A>G | CA435425281 | CASR | c.2277A>G (p.Val759=) c.2538A>G (p.Val846=) c.2508A>G (p.Val836=) c.2025A>G (p.Val675=) c.1920A>G (p.Val640=) | ClinVar dbSNP |
| 3 | g.122284462A>T | CA435425282 | CASR | c.2277A>T (p.Val759=) c.2538A>T (p.Val846=) c.2508A>T (p.Val836=) c.2025A>T (p.Val675=) c.1920A>T (p.Val640=) | |
| 3 | g.122284463G>A | CA354160106 | CASR | c.2278G>A (p.Glu760Lys) c.2539G>A (p.Glu847Lys) c.2509G>A (p.Glu837Lys) c.2026G>A (p.Glu676Lys) c.1921G>A (p.Glu641Lys) | ClinVar |
| 3 | g.122284463G>C | CA354160107 | CASR | c.2278G>C (p.Glu760Gln) c.2539G>C (p.Glu847Gln) c.2509G>C (p.Glu837Gln) c.2026G>C (p.Glu676Gln) c.1921G>C (p.Glu641Gln) | |
| 3 | g.122284463G>T | CA354160105 | CASR | c.2278G>T (p.Glu760Ter) c.2539G>T (p.Glu847Ter) c.2509G>T (p.Glu837Ter) c.2026G>T (p.Glu676Ter) c.1921G>T (p.Glu641Ter) | gnomAD v4 |
| 3 | g.122284464A>C | CA354160108 | CASR | c.2279A>C (p.Glu760Ala) c.2540A>C (p.Glu847Ala) c.2510A>C (p.Glu837Ala) c.2027A>C (p.Glu676Ala) c.1922A>C (p.Glu641Ala) | |
| 3 | g.122284464A>G | CA354160109 | CASR | c.2279A>G (p.Glu760Gly) c.2540A>G (p.Glu847Gly) c.2510A>G (p.Glu837Gly) c.2027A>G (p.Glu676Gly) c.1922A>G (p.Glu641Gly) | |
| 3 | g.122284464A>T | CA354160110 | CASR | c.2279A>T (p.Glu760Val) c.2540A>T (p.Glu847Val) c.2510A>T (p.Glu837Val) c.2027A>T (p.Glu676Val) c.1922A>T (p.Glu641Val) | |
| 3 | g.122284465G>A | CA435425285 | CASR | c.2280G>A (p.Glu760=) c.2541G>A (p.Glu847=) c.2511G>A (p.Glu837=) c.2028G>A (p.Glu676=) c.1923G>A (p.Glu641=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284465G>C | CA354160111 | CASR | c.2280G>C (p.Glu760Asp) c.2541G>C (p.Glu847Asp) c.2511G>C (p.Glu837Asp) c.2028G>C (p.Glu676Asp) c.1923G>C (p.Glu641Asp) | |
| 3 | g.122284465G>T | CA354160112 | CASR | c.2280G>T (p.Glu760Asp) c.2541G>T (p.Glu847Asp) c.2511G>T (p.Glu837Asp) c.2028G>T (p.Glu676Asp) c.1923G>T (p.Glu641Asp) | ClinVar |
| 3 | g.122284466G>A | CA354160115 | CASR | c.2281G>A (p.Val761Met) c.2542G>A (p.Val848Met) c.2512G>A (p.Val838Met) c.2029G>A (p.Val677Met) c.1924G>A (p.Val642Met) | |
| 3 | g.122284466G>C | CA354160114 | CASR | c.2281G>C (p.Val761Leu) c.2542G>C (p.Val848Leu) c.2512G>C (p.Val838Leu) c.2029G>C (p.Val677Leu) c.1924G>C (p.Val642Leu) | |
| 3 | g.122284466G>T | CA354160113 | CASR | c.2281G>T (p.Val761Leu) c.2542G>T (p.Val848Leu) c.2512G>T (p.Val838Leu) c.2029G>T (p.Val677Leu) c.1924G>T (p.Val642Leu) | |
| 3 | g.122284467T>A | CA354160116 | CASR | c.2282T>A (p.Val761Glu) c.2543T>A (p.Val848Glu) c.2513T>A (p.Val838Glu) c.2030T>A (p.Val677Glu) c.1925T>A (p.Val642Glu) | |
| 3 | g.122284467T>C | CA354160117 | CASR | c.2282T>C (p.Val761Ala) c.2543T>C (p.Val848Ala) c.2513T>C (p.Val838Ala) c.2030T>C (p.Val677Ala) c.1925T>C (p.Val642Ala) | ClinVar |
| 3 | g.122284467T>G | CA354160119 | CASR | c.2282T>G (p.Val761Gly) c.2543T>G (p.Val848Gly) c.2513T>G (p.Val838Gly) c.2030T>G (p.Val677Gly) c.1925T>G (p.Val642Gly) | |
| 3 | g.122284468G>A | CA435425292 | CASR | c.2283G>A (p.Val761=) c.2544G>A (p.Val848=) c.2514G>A (p.Val838=) c.2031G>A (p.Val677=) c.1926G>A (p.Val642=) | ClinVar dbSNP |
| 3 | g.122284468G>C | CA435425293 | CASR | c.2283G>C (p.Val761=) c.2544G>C (p.Val848=) c.2514G>C (p.Val838=) c.2031G>C (p.Val677=) c.1926G>C (p.Val642=) | |
| 3 | g.122284468G= | CA1397872425 | CASR | c.2283G= (p.Val761=) c.2544G= (p.Val848=) c.2514G= (p.Val838=) c.2031G= (p.Val677=) c.1926G= (p.Val642=) | |
| 3 | g.122284468G>T | CA435425294 | CASR | c.2283G>T (p.Val761=) c.2544G>T (p.Val848=) c.2514G>T (p.Val838=) c.2031G>T (p.Val677=) c.1926G>T (p.Val642=) | |
| 3 | g.122284469A>C | CA354160121 | CASR | c.2284A>C (p.Ile762Leu) c.2545A>C (p.Ile849Leu) c.2515A>C (p.Ile839Leu) c.2032A>C (p.Ile678Leu) c.1927A>C (p.Ile643Leu) | |
| 3 | g.122284469A>G | CA354160123 | CASR | c.2284A>G (p.Ile762Val) c.2545A>G (p.Ile849Val) c.2515A>G (p.Ile839Val) c.2032A>G (p.Ile678Val) c.1927A>G (p.Ile643Val) | |
| 3 | g.122284469A>T | CA354160125 | CASR | c.2284A>T (p.Ile762Phe) c.2545A>T (p.Ile849Phe) c.2515A>T (p.Ile839Phe) c.2032A>T (p.Ile678Phe) c.1927A>T (p.Ile643Phe) | |
| 3 | g.122284470T>A | CA354160132 | CASR | c.2285T>A (p.Ile762Asn) c.2546T>A (p.Ile849Asn) c.2516T>A (p.Ile839Asn) c.2033T>A (p.Ile678Asn) c.1928T>A (p.Ile643Asn) | ClinVar dbSNP |
| 3 | g.122284470T>C | CA354160129 | CASR | c.2285T>C (p.Ile762Thr) c.2546T>C (p.Ile849Thr) c.2516T>C (p.Ile839Thr) c.2033T>C (p.Ile678Thr) c.1928T>C (p.Ile643Thr) | ClinVar dbSNP |
| 3 | g.122284470T>G | CA354160128 | CASR | c.2285T>G (p.Ile762Ser) c.2546T>G (p.Ile849Ser) c.2516T>G (p.Ile839Ser) c.2033T>G (p.Ile678Ser) c.1928T>G (p.Ile643Ser) | |
| 3 | g.122284471T>A | CA435425300 | CASR | c.2286T>A (p.Ile762=) c.2547T>A (p.Ile849=) c.2517T>A (p.Ile839=) c.2034T>A (p.Ile678=) c.1929T>A (p.Ile643=) | |
| 3 | g.122284471T>C | CA435425301 | CASR | c.2286T>C (p.Ile762=) c.2547T>C (p.Ile849=) c.2517T>C (p.Ile839=) c.2034T>C (p.Ile678=) c.1929T>C (p.Ile643=) | |
| 3 | g.122284471T>G | CA354160133 | CASR | c.2286T>G (p.Ile762Met) c.2547T>G (p.Ile849Met) c.2517T>G (p.Ile839Met) c.2034T>G (p.Ile678Met) c.1929T>G (p.Ile643Met) | |
| 3 | g.122284472del | CA2740094575 | CASR | c.2287del (p.Ala763ProfsTer?) c.2548del (p.Ala850ProfsTer?) c.2518del (p.Ala840ProfsTer?) c.2035del (p.Ala679ProfsTer?) c.1930del (p.Ala644ProfsTer?) | ClinVar |
| 3 | g.122284472G>A | CA354160137 | CASR | c.2287G>A (p.Ala763Thr) c.2548G>A (p.Ala850Thr) c.2518G>A (p.Ala840Thr) c.2035G>A (p.Ala679Thr) c.1930G>A (p.Ala644Thr) | |
| 3 | g.122284472G>C | CA354160135 | CASR | c.2287G>C (p.Ala763Pro) c.2548G>C (p.Ala850Pro) c.2518G>C (p.Ala840Pro) c.2035G>C (p.Ala679Pro) c.1930G>C (p.Ala644Pro) | |
| 3 | g.122284472G>T | CA354160139 | CASR | c.2287G>T (p.Ala763Ser) c.2548G>T (p.Ala850Ser) c.2518G>T (p.Ala840Ser) c.2035G>T (p.Ala679Ser) c.1930G>T (p.Ala644Ser) | |
| 3 | g.122284473C>A | CA354160141 | CASR | c.2288C>A (p.Ala763Asp) c.2549C>A (p.Ala850Asp) c.2519C>A (p.Ala840Asp) c.2036C>A (p.Ala679Asp) c.1931C>A (p.Ala644Asp) | |
| 3 | g.122284473C= | CA1397872429 | CASR | c.2288C= (p.Ala763=) c.2549C= (p.Ala850=) c.2519C= (p.Ala840=) c.2036C= (p.Ala679=) c.1931C= (p.Ala644=) | |
| 3 | g.122284473C>G | CA354160145 | CASR | c.2288C>G (p.Ala763Gly) c.2549C>G (p.Ala850Gly) c.2519C>G (p.Ala840Gly) c.2036C>G (p.Ala679Gly) c.1931C>G (p.Ala644Gly) | |
| 3 | g.122284473C>T | CA354160143 | CASR | c.2288C>T (p.Ala763Val) c.2549C>T (p.Ala850Val) c.2519C>T (p.Ala840Val) c.2036C>T (p.Ala679Val) c.1931C>T (p.Ala644Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284474C>A | CA435425306 | CASR | c.2289C>A (p.Ala763=) c.2550C>A (p.Ala850=) c.2520C>A (p.Ala840=) c.2037C>A (p.Ala679=) c.1932C>A (p.Ala644=) | gnomAD v4 |
| 3 | g.122284474C>G | CA435425307 | CASR | c.2289C>G (p.Ala763=) c.2550C>G (p.Ala850=) c.2520C>G (p.Ala840=) c.2037C>G (p.Ala679=) c.1932C>G (p.Ala644=) | |
| 3 | g.122284474C>T | CA435425308 | CASR | c.2289C>T (p.Ala763=) c.2550C>T (p.Ala850=) c.2520C>T (p.Ala840=) c.2037C>T (p.Ala679=) c.1932C>T (p.Ala644=) | |
| 3 | g.122284475A= | CA1397872434 | CASR | c.2290A= (p.Ile764=) c.2551A= (p.Ile851=) c.2521A= (p.Ile841=) c.2038A= (p.Ile680=) c.1933A= (p.Ile645=) | |
| 3 | g.122284475A>C | CA354160146 | CASR | c.2290A>C (p.Ile764Leu) c.2551A>C (p.Ile851Leu) c.2521A>C (p.Ile841Leu) c.2038A>C (p.Ile680Leu) c.1933A>C (p.Ile645Leu) | |
| 3 | g.122284475A>G | CA354160150 | CASR | c.2290A>G (p.Ile764Val) c.2551A>G (p.Ile851Val) c.2521A>G (p.Ile841Val) c.2038A>G (p.Ile680Val) c.1933A>G (p.Ile645Val) | |
| 3 | g.122284475A>T | CA354160148 | CASR | c.2290A>T (p.Ile764Phe) c.2551A>T (p.Ile851Phe) c.2521A>T (p.Ile841Phe) c.2038A>T (p.Ile680Phe) c.1933A>T (p.Ile645Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284476T>A | CA354160152 | CASR | c.2291T>A (p.Ile764Asn) c.2552T>A (p.Ile851Asn) c.2522T>A (p.Ile841Asn) c.2039T>A (p.Ile680Asn) c.1934T>A (p.Ile645Asn) | |
| 3 | g.122284476T>C | CA354160155 | CASR | c.2291T>C (p.Ile764Thr) c.2552T>C (p.Ile851Thr) c.2522T>C (p.Ile841Thr) c.2039T>C (p.Ile680Thr) c.1934T>C (p.Ile645Thr) | |
| 3 | g.122284476T>G | CA354160153 | CASR | c.2291T>G (p.Ile764Ser) c.2552T>G (p.Ile851Ser) c.2522T>G (p.Ile841Ser) c.2039T>G (p.Ile680Ser) c.1934T>G (p.Ile645Ser) | |
| 3 | g.122284477C>A | CA435425311 | CASR | c.2292C>A (p.Ile764=) c.2553C>A (p.Ile851=) c.2523C>A (p.Ile841=) c.2040C>A (p.Ile680=) c.1935C>A (p.Ile645=) | |
| 3 | g.122284477C>G | CA354160157 | CASR | c.2292C>G (p.Ile764Met) c.2553C>G (p.Ile851Met) c.2523C>G (p.Ile841Met) c.2040C>G (p.Ile680Met) c.1935C>G (p.Ile645Met) | |
| 3 | g.122284477C>T | CA435425312 | CASR | c.2292C>T (p.Ile764=) c.2553C>T (p.Ile851=) c.2523C>T (p.Ile841=) c.2040C>T (p.Ile680=) c.1935C>T (p.Ile645=) | |
| 3 | g.122284478C>A | CA82749017 | CASR | c.2293C>A (p.Leu765Met) c.2554C>A (p.Leu852Met) c.2524C>A (p.Leu842Met) c.2041C>A (p.Leu681Met) c.1936C>A (p.Leu646Met) | ClinVar dbSNP |
| 3 | g.122284478C= | CA1397872437 | CASR | c.2293C= (p.Leu765=) c.2554C= (p.Leu852=) c.2524C= (p.Leu842=) c.2041C= (p.Leu681=) c.1936C= (p.Leu646=) | |
| 3 | g.122284478C>G | CA354160160 | CASR | c.2293C>G (p.Leu765Val) c.2554C>G (p.Leu852Val) c.2524C>G (p.Leu842Val) c.2041C>G (p.Leu681Val) c.1936C>G (p.Leu646Val) | |
| 3 | g.122284478C>T | CA435425313 | CASR | c.2293C>T (p.Leu765=) c.2554C>T (p.Leu852=) c.2524C>T (p.Leu842=) c.2041C>T (p.Leu681=) c.1936C>T (p.Leu646=) | |
| 3 | g.122284479T>A | CA354160163 | CASR | c.2294T>A (p.Leu765Gln) c.2555T>A (p.Leu852Gln) c.2525T>A (p.Leu842Gln) c.2042T>A (p.Leu681Gln) c.1937T>A (p.Leu646Gln) | |
| 3 | g.122284479T>C | CA354160164 | CASR | c.2294T>C (p.Leu765Pro) c.2555T>C (p.Leu852Pro) c.2525T>C (p.Leu842Pro) c.2042T>C (p.Leu681Pro) c.1937T>C (p.Leu646Pro) | ClinVar |
| 3 | g.122284479T>G | CA354160165 | CASR | c.2294T>G (p.Leu765Arg) c.2555T>G (p.Leu852Arg) c.2525T>G (p.Leu842Arg) c.2042T>G (p.Leu681Arg) c.1937T>G (p.Leu646Arg) | |
| 3 | g.122284480G>A | CA435425316 | CASR | c.2295G>A (p.Leu765=) c.2556G>A (p.Leu852=) c.2526G>A (p.Leu842=) c.2043G>A (p.Leu681=) c.1938G>A (p.Leu646=) | ClinVar dbSNP |
| 3 | g.122284480G>C | CA435425317 | CASR | c.2295G>C (p.Leu765=) c.2556G>C (p.Leu852=) c.2526G>C (p.Leu842=) c.2043G>C (p.Leu681=) c.1938G>C (p.Leu646=) | |
| 3 | g.122284480G= | CA1397872440 | CASR | c.2295G= (p.Leu765=) c.2556G= (p.Leu852=) c.2526G= (p.Leu842=) c.2043G= (p.Leu681=) c.1938G= (p.Leu646=) | |
| 3 | g.122284480G>T | CA435425318 | CASR | c.2295G>T (p.Leu765=) c.2556G>T (p.Leu852=) c.2526G>T (p.Leu842=) c.2043G>T (p.Leu681=) c.1938G>T (p.Leu646=) | ClinVar |
| 3 | g.122284481G>A | CA354160168 | CASR | c.2296G>A (p.Ala766Thr) c.2557G>A (p.Ala853Thr) c.2527G>A (p.Ala843Thr) c.2044G>A (p.Ala682Thr) c.1939G>A (p.Ala647Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284481G>C | CA354160170 | CASR | c.2296G>C (p.Ala766Pro) c.2557G>C (p.Ala853Pro) c.2527G>C (p.Ala843Pro) c.2044G>C (p.Ala682Pro) c.1939G>C (p.Ala647Pro) | gnomAD v4 |
| 3 | g.122284481G= | CA1397872443 | CASR | c.2296G= (p.Ala766=) c.2557G= (p.Ala853=) c.2527G= (p.Ala843=) c.2044G= (p.Ala682=) c.1939G= (p.Ala647=) | |
| 3 | g.122284481G>T | CA354160171 | CASR | c.2296G>T (p.Ala766Ser) c.2557G>T (p.Ala853Ser) c.2527G>T (p.Ala843Ser) c.2044G>T (p.Ala682Ser) c.1939G>T (p.Ala647Ser) | dbSNP |
| 3 | g.122284482C>A | CA119519 | CASR | c.2297C>A (p.Ala766Glu) c.2558C>A (p.Ala853Glu) c.2528C>A (p.Ala843Glu) c.2045C>A (p.Ala682Glu) c.1940C>A (p.Ala647Glu) | ClinVar dbSNP |
| 3 | g.122284482C= | CA1397872446 | CASR | c.2297C= (p.Ala766=) c.2558C= (p.Ala853=) c.2528C= (p.Ala843=) c.2045C= (p.Ala682=) c.1940C= (p.Ala647=) | |
| 3 | g.122284482C>G | CA354160174 | CASR | c.2297C>G (p.Ala766Gly) c.2558C>G (p.Ala853Gly) c.2528C>G (p.Ala843Gly) c.2045C>G (p.Ala682Gly) c.1940C>G (p.Ala647Gly) | |
| 3 | g.122284482C>T | CA354160176 | CASR | c.2297C>T (p.Ala766Val) c.2558C>T (p.Ala853Val) c.2528C>T (p.Ala843Val) c.2045C>T (p.Ala682Val) c.1940C>T (p.Ala647Val) | |
| 3 | g.122284483A>C | CA435425319 | CASR | c.2298A>C (p.Ala766=) c.2559A>C (p.Ala853=) c.2529A>C (p.Ala843=) c.2046A>C (p.Ala682=) c.1941A>C (p.Ala647=) | |
| 3 | g.122284483A>G | CA435425320 | CASR | c.2298A>G (p.Ala766=) c.2559A>G (p.Ala853=) c.2529A>G (p.Ala843=) c.2046A>G (p.Ala682=) c.1941A>G (p.Ala647=) | |
| 3 | g.122284483A>T | CA435425321 | CASR | c.2298A>T (p.Ala766=) c.2559A>T (p.Ala853=) c.2529A>T (p.Ala843=) c.2046A>T (p.Ala682=) c.1941A>T (p.Ala647=) | |
| 3 | g.122284484G>A | CA354160179 | CASR | c.2299G>A (p.Ala767Thr) c.2560G>A (p.Ala854Thr) c.2530G>A (p.Ala844Thr) c.2047G>A (p.Ala683Thr) c.1942G>A (p.Ala648Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284484G>C | CA354160182 | CASR | c.2299G>C (p.Ala767Pro) c.2560G>C (p.Ala854Pro) c.2530G>C (p.Ala844Pro) c.2047G>C (p.Ala683Pro) c.1942G>C (p.Ala648Pro) | |
| 3 | g.122284484G= | CA1397872452 | CASR | c.2299G= (p.Ala767=) c.2560G= (p.Ala854=) c.2530G= (p.Ala844=) c.2047G= (p.Ala683=) c.1942G= (p.Ala648=) | |
| 3 | g.122284484G>T | CA354160181 | CASR | c.2299G>T (p.Ala767Ser) c.2560G>T (p.Ala854Ser) c.2530G>T (p.Ala844Ser) c.2047G>T (p.Ala683Ser) c.1942G>T (p.Ala648Ser) | |
| 3 | g.122284484_122284504del | CA2667224655 | CASR | c.2299_2319del (p.Ala767_Ala773del) c.2560_2580del (p.Ala854_Ala860del) c.2530_2550del (p.Ala844_Ala850del) c.2047_2067del (p.Ala683_Ala689del) c.1942_1962del (p.Ala648_Ala654del) | gnomAD v4 |
| 3 | g.122284485C>A | CA354160185 | CASR | c.2300C>A (p.Ala767Asp) c.2561C>A (p.Ala854Asp) c.2531C>A (p.Ala844Asp) c.2048C>A (p.Ala683Asp) c.1943C>A (p.Ala648Asp) | |
| 3 | g.122284485C= | CA1397872454 | CASR | c.2300C= (p.Ala767=) c.2561C= (p.Ala854=) c.2531C= (p.Ala844=) c.2048C= (p.Ala683=) c.1943C= (p.Ala648=) | |
| 3 | g.122284485C>G | CA354160186 | CASR | c.2300C>G (p.Ala767Gly) c.2561C>G (p.Ala854Gly) c.2531C>G (p.Ala844Gly) c.2048C>G (p.Ala683Gly) c.1943C>G (p.Ala648Gly) | |
| 3 | g.122284485C>T | CA354160187 | CASR | c.2300C>T (p.Ala767Val) c.2561C>T (p.Ala854Val) c.2531C>T (p.Ala844Val) c.2048C>T (p.Ala683Val) c.1943C>T (p.Ala648Val) | ClinVar dbSNP |
| 3 | g.122284486C>A | CA435425322 | CASR | c.2301C>A (p.Ala767=) c.2562C>A (p.Ala854=) c.2532C>A (p.Ala844=) c.2049C>A (p.Ala683=) c.1944C>A (p.Ala648=) | |
| 3 | g.122284486C>G | CA435425323 | CASR | c.2301C>G (p.Ala767=) c.2562C>G (p.Ala854=) c.2532C>G (p.Ala844=) c.2049C>G (p.Ala683=) c.1944C>G (p.Ala648=) | |
| 3 | g.122284486C>T | CA435425324 | CASR | c.2301C>T (p.Ala767=) c.2562C>T (p.Ala854=) c.2532C>T (p.Ala844=) c.2049C>T (p.Ala683=) c.1944C>T (p.Ala648=) | |
| 3 | g.122284487_122284499del | CA2573136466 | CASR | c.2302_2314del (p.Ser768TrpfsTer?) c.2563_2575del (p.Ser855TrpfsTer?) c.2533_2545del (p.Ser845TrpfsTer?) c.2050_2062del (p.Ser684TrpfsTer?) c.1945_1957del (p.Ser649TrpfsTer?) | ClinVar dbSNP |
| 3 | g.122284487A= | CA1397872459 | CASR | c.2302A= (p.Ser768=) c.2563A= (p.Ser855=) c.2533A= (p.Ser845=) c.2050A= (p.Ser684=) c.1945A= (p.Ser649=) | |
| 3 | g.122284487A>C | CA354160190 | CASR | c.2302A>C (p.Ser768Arg) c.2563A>C (p.Ser855Arg) c.2533A>C (p.Ser845Arg) c.2050A>C (p.Ser684Arg) c.1945A>C (p.Ser649Arg) | ClinVar dbSNP |
| 3 | g.122284487A>G | CA354160191 | CASR | c.2302A>G (p.Ser768Gly) c.2563A>G (p.Ser855Gly) c.2533A>G (p.Ser845Gly) c.2050A>G (p.Ser684Gly) c.1945A>G (p.Ser649Gly) | |
| 3 | g.122284487A>T | CA354160192 | CASR | c.2302A>T (p.Ser768Cys) c.2563A>T (p.Ser855Cys) c.2533A>T (p.Ser845Cys) c.2050A>T (p.Ser684Cys) c.1945A>T (p.Ser649Cys) | |
| 3 | g.122284488G>A | CA354160195 | CASR | c.2303G>A (p.Ser768Asn) c.2564G>A (p.Ser855Asn) c.2534G>A (p.Ser845Asn) c.2051G>A (p.Ser684Asn) c.1946G>A (p.Ser649Asn) | ClinVar |
| 3 | g.122284488G>C | CA354160197 | CASR | c.2303G>C (p.Ser768Thr) c.2564G>C (p.Ser855Thr) c.2534G>C (p.Ser845Thr) c.2051G>C (p.Ser684Thr) c.1946G>C (p.Ser649Thr) | |
| 3 | g.122284488G>T | CA354160198 | CASR | c.2303G>T (p.Ser768Ile) c.2564G>T (p.Ser855Ile) c.2534G>T (p.Ser845Ile) c.2051G>T (p.Ser684Ile) c.1946G>T (p.Ser649Ile) | |
| 3 | g.122284489C>A | CA354160204 | CASR | c.2304C>A (p.Ser768Arg) c.2565C>A (p.Ser855Arg) c.2535C>A (p.Ser845Arg) c.2052C>A (p.Ser684Arg) c.1947C>A (p.Ser649Arg) | |
| 3 | g.122284489C= | CA1397872463 | CASR | c.2304C= (p.Ser768=) c.2565C= (p.Ser855=) c.2535C= (p.Ser845=) c.2052C= (p.Ser684=) c.1947C= (p.Ser649=) | |
| 3 | g.122284489C>G | CA354160201 | CASR | c.2304C>G (p.Ser768Arg) c.2565C>G (p.Ser855Arg) c.2535C>G (p.Ser845Arg) c.2052C>G (p.Ser684Arg) c.1947C>G (p.Ser649Arg) | |
| 3 | g.122284489C>T | CA2569830 | CASR | c.2304C>T (p.Ser768=) c.2565C>T (p.Ser855=) c.2535C>T (p.Ser845=) c.2052C>T (p.Ser684=) c.1947C>T (p.Ser649=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284490T>A | CA354160206 | CASR | c.2305T>A (p.Phe769Ile) c.2566T>A (p.Phe856Ile) c.2536T>A (p.Phe846Ile) c.2053T>A (p.Phe685Ile) c.1948T>A (p.Phe650Ile) | |
| 3 | g.122284490T>C | CA354160208 | CASR | c.2305T>C (p.Phe769Leu) c.2566T>C (p.Phe856Leu) c.2536T>C (p.Phe846Leu) c.2053T>C (p.Phe685Leu) c.1948T>C (p.Phe650Leu) | |
| 3 | g.122284490T>G | CA354160210 | CASR | c.2305T>G (p.Phe769Val) c.2566T>G (p.Phe856Val) c.2536T>G (p.Phe846Val) c.2053T>G (p.Phe685Val) c.1948T>G (p.Phe650Val) | |
| 3 | g.122284491T>A | CA354160212 | CASR | c.2306T>A (p.Phe769Tyr) c.2567T>A (p.Phe856Tyr) c.2537T>A (p.Phe846Tyr) c.2054T>A (p.Phe685Tyr) c.1949T>A (p.Phe650Tyr) | |
| 3 | g.122284491T>C | CA354160213 | CASR | c.2306T>C (p.Phe769Ser) c.2567T>C (p.Phe856Ser) c.2537T>C (p.Phe846Ser) c.2054T>C (p.Phe685Ser) c.1949T>C (p.Phe650Ser) | gnomAD v4 |
| 3 | g.122284491T>G | CA354160215 | CASR | c.2306T>G (p.Phe769Cys) c.2567T>G (p.Phe856Cys) c.2537T>G (p.Phe846Cys) c.2054T>G (p.Phe685Cys) c.1949T>G (p.Phe650Cys) | |
| 3 | g.122284492T>A | CA354160217 | CASR | c.2307T>A (p.Phe769Leu) c.2568T>A (p.Phe856Leu) c.2538T>A (p.Phe846Leu) c.2055T>A (p.Phe685Leu) c.1950T>A (p.Phe650Leu) | |
| 3 | g.122284492T>C | CA435425325 | CASR | c.2307T>C (p.Phe769=) c.2568T>C (p.Phe856=) c.2538T>C (p.Phe846=) c.2055T>C (p.Phe685=) c.1950T>C (p.Phe650=) | |
| 3 | g.122284492T>G | CA354160218 | CASR | c.2307T>G (p.Phe769Leu) c.2568T>G (p.Phe856Leu) c.2538T>G (p.Phe846Leu) c.2055T>G (p.Phe685Leu) c.1950T>G (p.Phe650Leu) | |
| 3 | g.122284493G>A | CA354160221 | CASR | c.2308G>A (p.Gly770Ser) c.2569G>A (p.Gly857Ser) c.2539G>A (p.Gly847Ser) c.2056G>A (p.Gly686Ser) c.1951G>A (p.Gly651Ser) | ClinVar |
| 3 | g.122284493G>C | CA354160222 | CASR | c.2308G>C (p.Gly770Arg) c.2569G>C (p.Gly857Arg) c.2539G>C (p.Gly847Arg) c.2056G>C (p.Gly686Arg) c.1951G>C (p.Gly651Arg) | |
| 3 | g.122284493G>T | CA354160225 | CASR | c.2308G>T (p.Gly770Cys) c.2569G>T (p.Gly857Cys) c.2539G>T (p.Gly847Cys) c.2056G>T (p.Gly686Cys) c.1951G>T (p.Gly651Cys) | gnomAD v4 |
| 3 | g.122284494G>A | CA16617819 | CASR | c.2309G>A (p.Gly770Asp) c.2570G>A (p.Gly857Asp) c.2540G>A (p.Gly847Asp) c.2057G>A (p.Gly686Asp) c.1952G>A (p.Gly651Asp) | ClinVar dbSNP |
| 3 | g.122284494G>C | CA354160229 | CASR | c.2309G>C (p.Gly770Ala) c.2570G>C (p.Gly857Ala) c.2540G>C (p.Gly847Ala) c.2057G>C (p.Gly686Ala) c.1952G>C (p.Gly651Ala) | |
| 3 | g.122284494G= | CA1397872467 | CASR | c.2309G= (p.Gly770=) c.2570G= (p.Gly857=) c.2540G= (p.Gly847=) c.2057G= (p.Gly686=) c.1952G= (p.Gly651=) | |
| 3 | g.122284494G>T | CA354160227 | CASR | c.2309G>T (p.Gly770Val) c.2570G>T (p.Gly857Val) c.2540G>T (p.Gly847Val) c.2057G>T (p.Gly686Val) c.1952G>T (p.Gly651Val) | |
| 3 | g.122284495C>A | CA435425326 | CASR | c.2310C>A (p.Gly770=) c.2571C>A (p.Gly857=) c.2541C>A (p.Gly847=) c.2058C>A (p.Gly686=) c.1953C>A (p.Gly651=) | |
| 3 | g.122284495C>G | CA435425328 | CASR | c.2310C>G (p.Gly770=) c.2571C>G (p.Gly857=) c.2541C>G (p.Gly847=) c.2058C>G (p.Gly686=) c.1953C>G (p.Gly651=) | |
| 3 | g.122284495C>T | CA435425327 | CASR | c.2310C>T (p.Gly770=) c.2571C>T (p.Gly857=) c.2541C>T (p.Gly847=) c.2058C>T (p.Gly686=) c.1953C>T (p.Gly651=) | |
| 3 | g.122284496T>A | CA354160232 | CASR | c.2311T>A (p.Leu771Met) c.2572T>A (p.Leu858Met) c.2542T>A (p.Leu848Met) c.2059T>A (p.Leu687Met) c.1954T>A (p.Leu652Met) | |
| 3 | g.122284496T>C | CA435425329 | CASR | c.2311T>C (p.Leu771=) c.2572T>C (p.Leu858=) c.2542T>C (p.Leu848=) c.2059T>C (p.Leu687=) c.1954T>C (p.Leu652=) | |
| 3 | g.122284496T>G | CA354160234 | CASR | c.2311T>G (p.Leu771Val) c.2572T>G (p.Leu858Val) c.2542T>G (p.Leu848Val) c.2059T>G (p.Leu687Val) c.1954T>G (p.Leu652Val) | |
| 3 | g.122284497T>A | CA354160236 | CASR | c.2312T>A (p.Leu771Ter) c.2573T>A (p.Leu858Ter) c.2543T>A (p.Leu848Ter) c.2060T>A (p.Leu687Ter) c.1955T>A (p.Leu652Ter) | |
| 3 | g.122284497T>C | CA354160237 | CASR | c.2312T>C (p.Leu771Ser) c.2573T>C (p.Leu858Ser) c.2543T>C (p.Leu848Ser) c.2060T>C (p.Leu687Ser) c.1955T>C (p.Leu652Ser) | |
| 3 | g.122284497T>G | CA354160238 | CASR | c.2312T>G (p.Leu771Trp) c.2573T>G (p.Leu858Trp) c.2543T>G (p.Leu848Trp) c.2060T>G (p.Leu687Trp) c.1955T>G (p.Leu652Trp) | |
| 3 | g.122284498G>A | CA435425330 | CASR | c.2313G>A (p.Leu771=) c.2574G>A (p.Leu858=) c.2544G>A (p.Leu848=) c.2061G>A (p.Leu687=) c.1956G>A (p.Leu652=) | |
| 3 | g.122284498G>C | CA354160240 | CASR | c.2313G>C (p.Leu771Phe) c.2574G>C (p.Leu858Phe) c.2544G>C (p.Leu848Phe) c.2061G>C (p.Leu687Phe) c.1956G>C (p.Leu652Phe) | |
| 3 | g.122284498G>T | CA354160242 | CASR | c.2313G>T (p.Leu771Phe) c.2574G>T (p.Leu858Phe) c.2544G>T (p.Leu848Phe) c.2061G>T (p.Leu687Phe) c.1956G>T (p.Leu652Phe) | |
| 3 | g.122284499C>A | CA354160244 | CASR | c.2314C>A (p.Leu772Met) c.2575C>A (p.Leu859Met) c.2545C>A (p.Leu849Met) c.2062C>A (p.Leu688Met) c.1957C>A (p.Leu653Met) | |
| 3 | g.122284499C>G | CA354160246 | CASR | c.2314C>G (p.Leu772Val) c.2575C>G (p.Leu859Val) c.2545C>G (p.Leu849Val) c.2062C>G (p.Leu688Val) c.1957C>G (p.Leu653Val) | ClinVar |
| 3 | g.122284499C>T | CA435425331 | CASR | c.2314C>T (p.Leu772=) c.2575C>T (p.Leu859=) c.2545C>T (p.Leu849=) c.2062C>T (p.Leu688=) c.1957C>T (p.Leu653=) | ClinVar |
| 3 | g.122284500T>A | CA354160248 | CASR | c.2315T>A (p.Leu772Gln) c.2576T>A (p.Leu859Gln) c.2546T>A (p.Leu849Gln) c.2063T>A (p.Leu688Gln) c.1958T>A (p.Leu653Gln) | ClinVar gnomAD v4 |
| 3 | g.122284500T>C | CA354160250 | CASR | c.2315T>C (p.Leu772Pro) c.2576T>C (p.Leu859Pro) c.2546T>C (p.Leu849Pro) c.2063T>C (p.Leu688Pro) c.1958T>C (p.Leu653Pro) | ClinVar dbSNP |
| 3 | g.122284500T>G | CA354160251 | CASR | c.2315T>G (p.Leu772Arg) c.2576T>G (p.Leu859Arg) c.2546T>G (p.Leu849Arg) c.2063T>G (p.Leu688Arg) c.1958T>G (p.Leu653Arg) | |
| 3 | g.122284500T= | CA1397872472 | CASR | c.2315T= (p.Leu772=) c.2576T= (p.Leu859=) c.2546T= (p.Leu849=) c.2063T= (p.Leu688=) c.1958T= (p.Leu653=) | |
| 3 | g.122284501G>A | CA435425332 | CASR | c.2316G>A (p.Leu772=) c.2577G>A (p.Leu859=) c.2547G>A (p.Leu849=) c.2064G>A (p.Leu688=) c.1959G>A (p.Leu653=) | |
| 3 | g.122284501G>C | CA435425333 | CASR | c.2316G>C (p.Leu772=) c.2577G>C (p.Leu859=) c.2547G>C (p.Leu849=) c.2064G>C (p.Leu688=) c.1959G>C (p.Leu653=) | |
| 3 | g.122284501G>T | CA435425334 | CASR | c.2316G>T (p.Leu772=) c.2577G>T (p.Leu859=) c.2547G>T (p.Leu849=) c.2064G>T (p.Leu688=) c.1959G>T (p.Leu653=) | |
| 3 | g.122284502G>A | CA354160258 | CASR | c.2317G>A (p.Ala773Thr) c.2578G>A (p.Ala860Thr) c.2548G>A (p.Ala850Thr) c.2065G>A (p.Ala689Thr) c.1960G>A (p.Ala654Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284502G>C | CA354160256 | CASR | c.2317G>C (p.Ala773Pro) c.2578G>C (p.Ala860Pro) c.2548G>C (p.Ala850Pro) c.2065G>C (p.Ala689Pro) c.1960G>C (p.Ala654Pro) | |
| 3 | g.122284502G= | CA1397872480 | CASR | c.2317G= (p.Ala773=) c.2578G= (p.Ala860=) c.2548G= (p.Ala850=) c.2065G= (p.Ala689=) c.1960G= (p.Ala654=) | |
| 3 | g.122284502G>T | CA354160254 | CASR | c.2317G>T (p.Ala773Ser) c.2578G>T (p.Ala860Ser) c.2548G>T (p.Ala850Ser) c.2065G>T (p.Ala689Ser) c.1960G>T (p.Ala654Ser) | |
| 3 | g.122284503C>A | CA2569831 | CASR | c.2318C>A (p.Ala773Glu) c.2579C>A (p.Ala860Glu) c.2549C>A (p.Ala850Glu) c.2066C>A (p.Ala689Glu) c.1961C>A (p.Ala654Glu) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.122284503C= | CA1397872492 | CASR | c.2318C= (p.Ala773=) c.2579C= (p.Ala860=) c.2549C= (p.Ala850=) c.2066C= (p.Ala689=) c.1961C= (p.Ala654=) | |
| 3 | g.122284503C>G | CA354160262 | CASR | c.2318C>G (p.Ala773Gly) c.2579C>G (p.Ala860Gly) c.2549C>G (p.Ala850Gly) c.2066C>G (p.Ala689Gly) c.1961C>G (p.Ala654Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284503C>T | CA354160261 | CASR | c.2318C>T (p.Ala773Val) c.2579C>T (p.Ala860Val) c.2549C>T (p.Ala850Val) c.2066C>T (p.Ala689Val) c.1961C>T (p.Ala654Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284504G>A | CA82749034 | CASR | c.2319G>A (p.Ala773=) c.2580G>A (p.Ala860=) c.2550G>A (p.Ala850=) c.2067G>A (p.Ala689=) c.1962G>A (p.Ala654=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284504G>C | CA435425336 | CASR | c.2319G>C (p.Ala773=) c.2580G>C (p.Ala860=) c.2550G>C (p.Ala850=) c.2067G>C (p.Ala689=) c.1962G>C (p.Ala654=) | |
| 3 | g.122284504G= | CA1397872498 | CASR | c.2319G= (p.Ala773=) c.2580G= (p.Ala860=) c.2550G= (p.Ala850=) c.2067G= (p.Ala689=) c.1962G= (p.Ala654=) | |
| 3 | g.122284504G>T | CA435425335 | CASR | c.2319G>T (p.Ala773=) c.2580G>T (p.Ala860=) c.2550G>T (p.Ala850=) c.2067G>T (p.Ala689=) c.1962G>T (p.Ala654=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284504_122284505insCCAG | CA2586972872 | CASR | c.2319_2320insCCAG (p.Cys774ProfsTer?) c.2580_2581insCCAG (p.Cys861ProfsTer?) c.2550_2551insCCAG (p.Cys851ProfsTer?) c.2067_2068insCCAG (p.Cys690ProfsTer?) c.1962_1963insCCAG (p.Cys655ProfsTer?) | |
| 3 | g.122284505T>A | CA2569832 | CASR | c.2320T>A (p.Cys774Ser) c.2581T>A (p.Cys861Ser) c.2551T>A (p.Cys851Ser) c.2068T>A (p.Cys690Ser) c.1963T>A (p.Cys655Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284505T>C | CA354160265 | CASR | c.2320T>C (p.Cys774Arg) c.2581T>C (p.Cys861Arg) c.2551T>C (p.Cys851Arg) c.2068T>C (p.Cys690Arg) c.1963T>C (p.Cys655Arg) | |
| 3 | g.122284505T>G | CA354160266 | CASR | c.2320T>G (p.Cys774Gly) c.2581T>G (p.Cys861Gly) c.2551T>G (p.Cys851Gly) c.2068T>G (p.Cys690Gly) c.1963T>G (p.Cys655Gly) | COSMIC |
| 3 | g.122284505T= | CA1397872505 | CASR | c.2320T= (p.Cys774=) c.2581T= (p.Cys861=) c.2551T= (p.Cys851=) c.2068T= (p.Cys690=) c.1963T= (p.Cys655=) | |
| 3 | g.122284506G>A | CA354160267 | CASR | c.2321G>A (p.Cys774Tyr) c.2582G>A (p.Cys861Tyr) c.2552G>A (p.Cys851Tyr) c.2069G>A (p.Cys690Tyr) c.1964G>A (p.Cys655Tyr) | |
| 3 | g.122284506G>C | CA354160268 | CASR | c.2321G>C (p.Cys774Ser) c.2582G>C (p.Cys861Ser) c.2552G>C (p.Cys851Ser) c.2069G>C (p.Cys690Ser) c.1964G>C (p.Cys655Ser) | ClinVar dbSNP |
| 3 | g.122284506G>T | CA354160269 | CASR | c.2321G>T (p.Cys774Phe) c.2582G>T (p.Cys861Phe) c.2552G>T (p.Cys851Phe) c.2069G>T (p.Cys690Phe) c.1964G>T (p.Cys655Phe) | |
| 3 | g.122284507C>A | CA354160270 | CASR | c.2322C>A (p.Cys774Ter) c.2583C>A (p.Cys861Ter) c.2553C>A (p.Cys851Ter) c.2070C>A (p.Cys690Ter) c.1965C>A (p.Cys655Ter) | |
| 3 | g.122284507C>G | CA354160271 | CASR | c.2322C>G (p.Cys774Trp) c.2583C>G (p.Cys861Trp) c.2553C>G (p.Cys851Trp) c.2070C>G (p.Cys690Trp) c.1965C>G (p.Cys655Trp) | ClinVar |
| 3 | g.122284507C>T | CA435425337 | CASR | c.2322C>T (p.Cys774=) c.2583C>T (p.Cys861=) c.2553C>T (p.Cys851=) c.2070C>T (p.Cys690=) c.1965C>T (p.Cys655=) |