| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284377C>A | CA354159767 | CASR | c.2192C>A (p.Thr731Asn) c.2453C>A (p.Thr818Asn) c.2423C>A (p.Thr808Asn) c.1940C>A (p.Thr647Asn) c.1835C>A (p.Thr612Asn) | dbSNP |
| 3 | g.122284377C= | CA1397872293 | CASR | c.2192C= (p.Thr731=) c.2453C= (p.Thr818=) c.2423C= (p.Thr808=) c.1940C= (p.Thr647=) c.1835C= (p.Thr612=) | |
| 3 | g.122284377C>G | CA354159768 | CASR | c.2192C>G (p.Thr731Ser) c.2453C>G (p.Thr818Ser) c.2423C>G (p.Thr808Ser) c.1940C>G (p.Thr647Ser) c.1835C>G (p.Thr612Ser) | ClinVar |
| 3 | g.122284377C>T | CA354159769 | CASR | c.2192C>T (p.Thr731Ile) c.2453C>T (p.Thr818Ile) c.2423C>T (p.Thr808Ile) c.1940C>T (p.Thr647Ile) c.1835C>T (p.Thr612Ile) | |
| 3 | g.122284378C>A | CA435425236 | CASR | c.2193C>A (p.Thr731=) c.2454C>A (p.Thr818=) c.2424C>A (p.Thr808=) c.1941C>A (p.Thr647=) c.1836C>A (p.Thr612=) | |
| 3 | g.122284378C= | CA1397872295 | CASR | c.2193C= (p.Thr731=) c.2454C= (p.Thr818=) c.2424C= (p.Thr808=) c.1941C= (p.Thr647=) c.1836C= (p.Thr612=) | |
| 3 | g.122284378C>G | CA435425237 | CASR | c.2193C>G (p.Thr731=) c.2454C>G (p.Thr818=) c.2424C>G (p.Thr808=) c.1941C>G (p.Thr647=) c.1836C>G (p.Thr612=) | |
| 3 | g.122284378C>T | CA435425238 | CASR | c.2193C>T (p.Thr731=) c.2454C>T (p.Thr818=) c.2424C>T (p.Thr808=) c.1941C>T (p.Thr647=) c.1836C>T (p.Thr612=) | dbSNP |
| 3 | g.122284379T>A | CA354159770 | CASR | c.2194T>A (p.Phe732Ile) c.2455T>A (p.Phe819Ile) c.2425T>A (p.Phe809Ile) c.1942T>A (p.Phe648Ile) c.1837T>A (p.Phe613Ile) | ClinVar dbSNP |
| 3 | g.122284379T>C | CA354159772 | CASR | c.2194T>C (p.Phe732Leu) c.2455T>C (p.Phe819Leu) c.2425T>C (p.Phe809Leu) c.1942T>C (p.Phe648Leu) c.1837T>C (p.Phe613Leu) | |
| 3 | g.122284379T>G | CA354159771 | CASR | c.2194T>G (p.Phe732Val) c.2455T>G (p.Phe819Val) c.2425T>G (p.Phe809Val) c.1942T>G (p.Phe648Val) c.1837T>G (p.Phe613Val) | |
| 3 | g.122284379T= | CA1397872298 | CASR | c.2194T= (p.Phe732=) c.2455T= (p.Phe819=) c.2425T= (p.Phe809=) c.1942T= (p.Phe648=) c.1837T= (p.Phe613=) | |
| 3 | g.122284380T>A | CA354159773 | CASR | c.2195T>A (p.Phe732Tyr) c.2456T>A (p.Phe819Tyr) c.2426T>A (p.Phe809Tyr) c.1943T>A (p.Phe648Tyr) c.1838T>A (p.Phe613Tyr) | |
| 3 | g.122284380T>C | CA354159774 | CASR | c.2195T>C (p.Phe732Ser) c.2456T>C (p.Phe819Ser) c.2426T>C (p.Phe809Ser) c.1943T>C (p.Phe648Ser) c.1838T>C (p.Phe613Ser) | |
| 3 | g.122284380T>G | CA354159775 | CASR | c.2195T>G (p.Phe732Cys) c.2456T>G (p.Phe819Cys) c.2426T>G (p.Phe809Cys) c.1943T>G (p.Phe648Cys) c.1838T>G (p.Phe613Cys) | |
| 3 | g.122284381C>A | CA354159776 | CASR | c.2196C>A (p.Phe732Leu) c.2457C>A (p.Phe819Leu) c.2427C>A (p.Phe809Leu) c.1944C>A (p.Phe648Leu) c.1839C>A (p.Phe613Leu) | |
| 3 | g.122284381C= | CA1397872301 | CASR | c.2196C= (p.Phe732=) c.2457C= (p.Phe819=) c.2427C= (p.Phe809=) c.1944C= (p.Phe648=) c.1839C= (p.Phe613=) | |
| 3 | g.122284381C>G | CA354159777 | CASR | c.2196C>G (p.Phe732Leu) c.2457C>G (p.Phe819Leu) c.2427C>G (p.Phe809Leu) c.1944C>G (p.Phe648Leu) c.1839C>G (p.Phe613Leu) | |
| 3 | g.122284381C>T | CA435425242 | CASR | c.2196C>T (p.Phe732=) c.2457C>T (p.Phe819=) c.2427C>T (p.Phe809=) c.1944C>T (p.Phe648=) c.1839C>T (p.Phe613=) | dbSNP gnomAD v2 |
| 3 | g.122284382A>C | CA354159778 | CASR | c.2197A>C (p.Ser733Arg) c.2458A>C (p.Ser820Arg) c.2428A>C (p.Ser810Arg) c.1945A>C (p.Ser649Arg) c.1840A>C (p.Ser614Arg) | |
| 3 | g.122284382A>G | CA354159779 | CASR | c.2197A>G (p.Ser733Gly) c.2458A>G (p.Ser820Gly) c.2428A>G (p.Ser810Gly) c.1945A>G (p.Ser649Gly) c.1840A>G (p.Ser614Gly) | |
| 3 | g.122284382A>T | CA354159780 | CASR | c.2197A>T (p.Ser733Cys) c.2458A>T (p.Ser820Cys) c.2428A>T (p.Ser810Cys) c.1945A>T (p.Ser649Cys) c.1840A>T (p.Ser614Cys) | gnomAD v4 |
| 3 | g.122284383G>A | CA354159781 | CASR | c.2198G>A (p.Ser733Asn) c.2459G>A (p.Ser820Asn) c.2429G>A (p.Ser810Asn) c.1946G>A (p.Ser649Asn) c.1841G>A (p.Ser614Asn) | ClinVar dbSNP |
| 3 | g.122284383G>C | CA354159782 | CASR | c.2198G>C (p.Ser733Thr) c.2459G>C (p.Ser820Thr) c.2429G>C (p.Ser810Thr) c.1946G>C (p.Ser649Thr) c.1841G>C (p.Ser614Thr) | ClinVar |
| 3 | g.122284383G= | CA1397872306 | CASR | c.2198G= (p.Ser733=) c.2459G= (p.Ser820=) c.2429G= (p.Ser810=) c.1946G= (p.Ser649=) c.1841G= (p.Ser614=) | |
| 3 | g.122284383G>T | CA354159783 | CASR | c.2198G>T (p.Ser733Ile) c.2459G>T (p.Ser820Ile) c.2429G>T (p.Ser810Ile) c.1946G>T (p.Ser649Ile) c.1841G>T (p.Ser614Ile) | |
| 3 | g.122284384C>A | CA354159785 | CASR | c.2199C>A (p.Ser733Arg) c.2460C>A (p.Ser820Arg) c.2430C>A (p.Ser810Arg) c.1947C>A (p.Ser649Arg) c.1842C>A (p.Ser614Arg) | |
| 3 | g.122284384C>G | CA354159784 | CASR | c.2199C>G (p.Ser733Arg) c.2460C>G (p.Ser820Arg) c.2430C>G (p.Ser810Arg) c.1947C>G (p.Ser649Arg) c.1842C>G (p.Ser614Arg) | |
| 3 | g.122284384C>T | CA435425249 | CASR | c.2199C>T (p.Ser733=) c.2460C>T (p.Ser820=) c.2430C>T (p.Ser810=) c.1947C>T (p.Ser649=) c.1842C>T (p.Ser614=) | gnomAD v4 |
| 3 | g.122284385A= | CA1397872312 | CASR | c.2200A= (p.Met734=) c.2461A= (p.Met821=) c.2431A= (p.Met811=) c.1948A= (p.Met650=) c.1843A= (p.Met615=) | |
| 3 | g.122284385A>C | CA354159786 | CASR | c.2200A>C (p.Met734Leu) c.2461A>C (p.Met821Leu) c.2431A>C (p.Met811Leu) c.1948A>C (p.Met650Leu) c.1843A>C (p.Met615Leu) | |
| 3 | g.122284385A>G | CA16604354 | CASR | c.2200A>G (p.Met734Val) c.2461A>G (p.Met821Val) c.2431A>G (p.Met811Val) c.1948A>G (p.Met650Val) c.1843A>G (p.Met615Val) | ClinVar dbSNP |
| 3 | g.122284385A>T | CA354159787 | CASR | c.2200A>T (p.Met734Leu) c.2461A>T (p.Met821Leu) c.2431A>T (p.Met811Leu) c.1948A>T (p.Met650Leu) c.1843A>T (p.Met615Leu) | |
| 3 | g.122284386T>A | CA354159788 | CASR | c.2201T>A (p.Met734Lys) c.2462T>A (p.Met821Lys) c.2432T>A (p.Met811Lys) c.1949T>A (p.Met650Lys) c.1844T>A (p.Met615Lys) | |
| 3 | g.122284386T>C | CA354159789 | CASR | c.2201T>C (p.Met734Thr) c.2462T>C (p.Met821Thr) c.2432T>C (p.Met811Thr) c.1949T>C (p.Met650Thr) c.1844T>C (p.Met615Thr) | |
| 3 | g.122284386T>G | CA354159790 | CASR | c.2201T>G (p.Met734Arg) c.2462T>G (p.Met821Arg) c.2432T>G (p.Met811Arg) c.1949T>G (p.Met650Arg) c.1844T>G (p.Met615Arg) | |
| 3 | g.122284387G>A | CA354159791 | CASR | c.2202G>A (p.Met734Ile) c.2463G>A (p.Met821Ile) c.2433G>A (p.Met811Ile) c.1950G>A (p.Met650Ile) c.1845G>A (p.Met615Ile) | |
| 3 | g.122284387G>C | CA354159792 | CASR | c.2202G>C (p.Met734Ile) c.2463G>C (p.Met821Ile) c.2433G>C (p.Met811Ile) c.1950G>C (p.Met650Ile) c.1845G>C (p.Met615Ile) | |
| 3 | g.122284387G>T | CA354159793 | CASR | c.2202G>T (p.Met734Ile) c.2463G>T (p.Met821Ile) c.2433G>T (p.Met811Ile) c.1950G>T (p.Met650Ile) c.1845G>T (p.Met615Ile) | |
| 3 | g.122284388C>A | CA354159794 | CASR | c.2203C>A (p.Leu735Ile) c.2464C>A (p.Leu822Ile) c.2434C>A (p.Leu812Ile) c.1951C>A (p.Leu651Ile) c.1846C>A (p.Leu616Ile) | |
| 3 | g.122284388C= | CA1397872316 | CASR | c.2203C= (p.Leu735=) c.2464C= (p.Leu822=) c.2434C= (p.Leu812=) c.1951C= (p.Leu651=) c.1846C= (p.Leu616=) | |
| 3 | g.122284388C>G | CA354159795 | CASR | c.2203C>G (p.Leu735Val) c.2464C>G (p.Leu822Val) c.2434C>G (p.Leu812Val) c.1951C>G (p.Leu651Val) c.1846C>G (p.Leu616Val) | |
| 3 | g.122284388C>T | CA354159796 | CASR | c.2203C>T (p.Leu735Phe) c.2464C>T (p.Leu822Phe) c.2434C>T (p.Leu812Phe) c.1951C>T (p.Leu651Phe) c.1846C>T (p.Leu616Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284389T>A | CA354159798 | CASR | c.2204T>A (p.Leu735His) c.2465T>A (p.Leu822His) c.2435T>A (p.Leu812His) c.1952T>A (p.Leu651His) c.1847T>A (p.Leu616His) | gnomAD v4 |
| 3 | g.122284389T>C | CA213586 | CASR | c.2204T>C (p.Leu735Pro) c.2465T>C (p.Leu822Pro) c.2435T>C (p.Leu812Pro) c.1952T>C (p.Leu651Pro) c.1847T>C (p.Leu616Pro) | ClinVar dbSNP |
| 3 | g.122284389T>G | CA354159797 | CASR | c.2204T>G (p.Leu735Arg) c.2465T>G (p.Leu822Arg) c.2435T>G (p.Leu812Arg) c.1952T>G (p.Leu651Arg) c.1847T>G (p.Leu616Arg) | |
| 3 | g.122284389T= | CA1397872323 | CASR | c.2204T= (p.Leu735=) c.2465T= (p.Leu822=) c.2435T= (p.Leu812=) c.1952T= (p.Leu651=) c.1847T= (p.Leu616=) | |
| 3 | g.122284390C>A | CA435425258 | CASR | c.2205C>A (p.Leu735=) c.2466C>A (p.Leu822=) c.2436C>A (p.Leu812=) c.1953C>A (p.Leu651=) c.1848C>A (p.Leu616=) | |
| 3 | g.122284390C>G | CA435425259 | CASR | c.2205C>G (p.Leu735=) c.2466C>G (p.Leu822=) c.2436C>G (p.Leu812=) c.1953C>G (p.Leu651=) c.1848C>G (p.Leu616=) | ClinVar |
| 3 | g.122284390C>T | CA435425261 | CASR | c.2205C>T (p.Leu735=) c.2466C>T (p.Leu822=) c.2436C>T (p.Leu812=) c.1953C>T (p.Leu651=) c.1848C>T (p.Leu616=) | ClinVar |
| 3 | g.122284391A= | CA1397872330 | CASR | c.2206A= (p.Ile736=) c.2467A= (p.Ile823=) c.2437A= (p.Ile813=) c.1954A= (p.Ile652=) c.1849A= (p.Ile617=) | |
| 3 | g.122284391A>C | CA354159800 | CASR | c.2206A>C (p.Ile736Leu) c.2467A>C (p.Ile823Leu) c.2437A>C (p.Ile813Leu) c.1954A>C (p.Ile652Leu) c.1849A>C (p.Ile617Leu) | |
| 3 | g.122284391A>G | CA2569824 | CASR | c.2206A>G (p.Ile736Val) c.2467A>G (p.Ile823Val) c.2437A>G (p.Ile813Val) c.1954A>G (p.Ile652Val) c.1849A>G (p.Ile617Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284391A>T | CA354159799 | CASR | c.2206A>T (p.Ile736Phe) c.2467A>T (p.Ile823Phe) c.2437A>T (p.Ile813Phe) c.1954A>T (p.Ile652Phe) c.1849A>T (p.Ile617Phe) | |
| 3 | g.122284392T>A | CA354159801 | CASR | c.2207T>A (p.Ile736Asn) c.2468T>A (p.Ile823Asn) c.2438T>A (p.Ile813Asn) c.1955T>A (p.Ile652Asn) c.1850T>A (p.Ile617Asn) | |
| 3 | g.122284392T>C | CA354159802 | CASR | c.2207T>C (p.Ile736Thr) c.2468T>C (p.Ile823Thr) c.2438T>C (p.Ile813Thr) c.1955T>C (p.Ile652Thr) c.1850T>C (p.Ile617Thr) | |
| 3 | g.122284392T>G | CA354159803 | CASR | c.2207T>G (p.Ile736Ser) c.2468T>G (p.Ile823Ser) c.2438T>G (p.Ile813Ser) c.1955T>G (p.Ile652Ser) c.1850T>G (p.Ile617Ser) | |
| 3 | g.122284397_122284399del | CA2580616517 | CASR | c.2212_2214del (p.Phe738del) c.2473_2475del (p.Phe825del) c.2443_2445del (p.Phe815del) c.1960_1962del (p.Phe654del) c.1855_1857del (p.Phe619del) | ClinVar |
| 3 | g.122284393C>A | CA435425268 | CASR | c.2208C>A (p.Ile736=) c.2469C>A (p.Ile823=) c.2439C>A (p.Ile813=) c.1956C>A (p.Ile652=) c.1851C>A (p.Ile617=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284393C= | CA1397872336 | CASR | c.2208C= (p.Ile736=) c.2469C= (p.Ile823=) c.2439C= (p.Ile813=) c.1956C= (p.Ile652=) c.1851C= (p.Ile617=) | |
| 3 | g.122284393C>G | CA354159804 | CASR | c.2208C>G (p.Ile736Met) c.2469C>G (p.Ile823Met) c.2439C>G (p.Ile813Met) c.1956C>G (p.Ile652Met) c.1851C>G (p.Ile617Met) | |
| 3 | g.122284393C>T | CA435425269 | CASR | c.2208C>T (p.Ile736=) c.2469C>T (p.Ile823=) c.2439C>T (p.Ile813=) c.1956C>T (p.Ile652=) c.1851C>T (p.Ile617=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284394T>A | CA354159805 | CASR | c.2209T>A (p.Phe737Ile) c.2470T>A (p.Phe824Ile) c.2440T>A (p.Phe814Ile) c.1957T>A (p.Phe653Ile) c.1852T>A (p.Phe618Ile) | |
| 3 | g.122284394T>C | CA354159806 | CASR | c.2209T>C (p.Phe737Leu) c.2470T>C (p.Phe824Leu) c.2440T>C (p.Phe814Leu) c.1957T>C (p.Phe653Leu) c.1852T>C (p.Phe618Leu) | |
| 3 | g.122284394T>G | CA354159807 | CASR | c.2209T>G (p.Phe737Val) c.2470T>G (p.Phe824Val) c.2440T>G (p.Phe814Val) c.1957T>G (p.Phe653Val) c.1852T>G (p.Phe618Val) | |
| 3 | g.122284395T>A | CA354159808 | CASR | c.2210T>A (p.Phe737Tyr) c.2471T>A (p.Phe824Tyr) c.2441T>A (p.Phe814Tyr) c.1958T>A (p.Phe653Tyr) c.1853T>A (p.Phe618Tyr) | |
| 3 | g.122284395T>C | CA354159809 | CASR | c.2210T>C (p.Phe737Ser) c.2471T>C (p.Phe824Ser) c.2441T>C (p.Phe814Ser) c.1958T>C (p.Phe653Ser) c.1853T>C (p.Phe618Ser) | |
| 3 | g.122284395T>G | CA354159810 | CASR | c.2210T>G (p.Phe737Cys) c.2471T>G (p.Phe824Cys) c.2441T>G (p.Phe814Cys) c.1958T>G (p.Phe653Cys) c.1853T>G (p.Phe618Cys) | |
| 3 | g.122284396C>A | CA354159812 | CASR | c.2211C>A (p.Phe737Leu) c.2472C>A (p.Phe824Leu) c.2442C>A (p.Phe814Leu) c.1959C>A (p.Phe653Leu) c.1854C>A (p.Phe618Leu) | |
| 3 | g.122284396C= | CA1397872341 | CASR | c.2211C= (p.Phe737=) c.2472C= (p.Phe824=) c.2442C= (p.Phe814=) c.1959C= (p.Phe653=) c.1854C= (p.Phe618=) | |
| 3 | g.122284396C>G | CA354159811 | CASR | c.2211C>G (p.Phe737Leu) c.2472C>G (p.Phe824Leu) c.2442C>G (p.Phe814Leu) c.1959C>G (p.Phe653Leu) c.1854C>G (p.Phe618Leu) | |
| 3 | g.122284396C>T | CA2569825 | CASR | c.2211C>T (p.Phe737=) c.2472C>T (p.Phe824=) c.2442C>T (p.Phe814=) c.1959C>T (p.Phe653=) c.1854C>T (p.Phe618=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284397T>A | CA354159813 | CASR | c.2212T>A (p.Phe738Ile) c.2473T>A (p.Phe825Ile) c.2443T>A (p.Phe815Ile) c.1960T>A (p.Phe654Ile) c.1855T>A (p.Phe619Ile) | |
| 3 | g.122284397T>C | CA354159814 | CASR | c.2212T>C (p.Phe738Leu) c.2473T>C (p.Phe825Leu) c.2443T>C (p.Phe815Leu) c.1960T>C (p.Phe654Leu) c.1855T>C (p.Phe619Leu) | |
| 3 | g.122284397T>G | CA354159815 | CASR | c.2212T>G (p.Phe738Val) c.2473T>G (p.Phe825Val) c.2443T>G (p.Phe815Val) c.1960T>G (p.Phe654Val) c.1855T>G (p.Phe619Val) | |
| 3 | g.122284398T>A | CA354159816 | CASR | c.2213T>A (p.Phe738Tyr) c.2474T>A (p.Phe825Tyr) c.2444T>A (p.Phe815Tyr) c.1961T>A (p.Phe654Tyr) c.1856T>A (p.Phe619Tyr) | |
| 3 | g.122284398T>C | CA354159817 | CASR | c.2213T>C (p.Phe738Ser) c.2474T>C (p.Phe825Ser) c.2444T>C (p.Phe815Ser) c.1961T>C (p.Phe654Ser) c.1856T>C (p.Phe619Ser) | ClinVar |
| 3 | g.122284398T>G | CA354159818 | CASR | c.2213T>G (p.Phe738Cys) c.2474T>G (p.Phe825Cys) c.2444T>G (p.Phe815Cys) c.1961T>G (p.Phe654Cys) c.1856T>G (p.Phe619Cys) | |
| 3 | g.122284399C>A | CA354159819 | CASR | c.2214C>A (p.Phe738Leu) c.2475C>A (p.Phe825Leu) c.2445C>A (p.Phe815Leu) c.1962C>A (p.Phe654Leu) c.1857C>A (p.Phe619Leu) | |
| 3 | g.122284399C>G | CA354159820 | CASR | c.2214C>G (p.Phe738Leu) c.2475C>G (p.Phe825Leu) c.2445C>G (p.Phe815Leu) c.1962C>G (p.Phe654Leu) c.1857C>G (p.Phe619Leu) | |
| 3 | g.122284399C>T | CA435425279 | CASR | c.2214C>T (p.Phe738=) c.2475C>T (p.Phe825=) c.2445C>T (p.Phe815=) c.1962C>T (p.Phe654=) c.1857C>T (p.Phe619=) | |
| 3 | g.122284400A>C | CA354159821 | CASR | c.2215A>C (p.Ile739Leu) c.2476A>C (p.Ile826Leu) c.2446A>C (p.Ile816Leu) c.1963A>C (p.Ile655Leu) c.1858A>C (p.Ile620Leu) | |
| 3 | g.122284400A>G | CA354159822 | CASR | c.2215A>G (p.Ile739Val) c.2476A>G (p.Ile826Val) c.2446A>G (p.Ile816Val) c.1963A>G (p.Ile655Val) c.1858A>G (p.Ile620Val) | ClinVar dbSNP |
| 3 | g.122284400A>T | CA354159823 | CASR | c.2215A>T (p.Ile739Phe) c.2476A>T (p.Ile826Phe) c.2446A>T (p.Ile816Phe) c.1963A>T (p.Ile655Phe) c.1858A>T (p.Ile620Phe) | |
| 3 | g.122284401T>A | CA354159825 | CASR | c.2216T>A (p.Ile739Asn) c.2477T>A (p.Ile826Asn) c.2447T>A (p.Ile816Asn) c.1964T>A (p.Ile655Asn) c.1859T>A (p.Ile620Asn) | |
| 3 | g.122284401T>C | CA354159826 | CASR | c.2216T>C (p.Ile739Thr) c.2477T>C (p.Ile826Thr) c.2447T>C (p.Ile816Thr) c.1964T>C (p.Ile655Thr) c.1859T>C (p.Ile620Thr) | |
| 3 | g.122284401T>G | CA354159824 | CASR | c.2216T>G (p.Ile739Ser) c.2477T>G (p.Ile826Ser) c.2447T>G (p.Ile816Ser) c.1964T>G (p.Ile655Ser) c.1859T>G (p.Ile620Ser) | |
| 3 | g.122284402C>A | CA2569826 | CASR | c.2217C>A (p.Ile739=) c.2478C>A (p.Ile826=) c.2448C>A (p.Ile816=) c.1965C>A (p.Ile655=) c.1860C>A (p.Ile620=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284402C= | CA1397872345 | CASR | c.2217C= (p.Ile739=) c.2478C= (p.Ile826=) c.2448C= (p.Ile816=) c.1965C= (p.Ile655=) c.1860C= (p.Ile620=) | |
| 3 | g.122284402C>G | CA354159827 | CASR | c.2217C>G (p.Ile739Met) c.2478C>G (p.Ile826Met) c.2448C>G (p.Ile816Met) c.1965C>G (p.Ile655Met) c.1860C>G (p.Ile620Met) | ClinVar dbSNP |
| 3 | g.122284402C>T | CA435425284 | CASR | c.2217C>T (p.Ile739=) c.2478C>T (p.Ile826=) c.2448C>T (p.Ile816=) c.1965C>T (p.Ile655=) c.1860C>T (p.Ile620=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284403G>A | CA16043395 | CASR | c.2218G>A (p.Val740Ile) c.2479G>A (p.Val827Ile) c.2449G>A (p.Val817Ile) c.1966G>A (p.Val656Ile) c.1861G>A (p.Val621Ile) | ClinVar dbSNP COSMIC |
| 3 | g.122284403G>C | CA354159828 | CASR | c.2218G>C (p.Val740Leu) c.2479G>C (p.Val827Leu) c.2449G>C (p.Val817Leu) c.1966G>C (p.Val656Leu) c.1861G>C (p.Val621Leu) | ClinVar dbSNP |
| 3 | g.122284403G= | CA1397872350 | CASR | c.2218G= (p.Val740=) c.2479G= (p.Val827=) c.2449G= (p.Val817=) c.1966G= (p.Val656=) c.1861G= (p.Val621=) | |
| 3 | g.122284403G>T | CA354159829 | CASR | c.2218G>T (p.Val740Phe) c.2479G>T (p.Val827Phe) c.2449G>T (p.Val817Phe) c.1966G>T (p.Val656Phe) c.1861G>T (p.Val621Phe) | |
| 3 | g.122284404T>A | CA354159832 | CASR | c.2219T>A (p.Val740Asp) c.2480T>A (p.Val827Asp) c.2450T>A (p.Val817Asp) c.1967T>A (p.Val656Asp) c.1862T>A (p.Val621Asp) | |
| 3 | g.122284404T>C | CA354159831 | CASR | c.2219T>C (p.Val740Ala) c.2480T>C (p.Val827Ala) c.2450T>C (p.Val817Ala) c.1967T>C (p.Val656Ala) c.1862T>C (p.Val621Ala) | dbSNP |
| 3 | g.122284404T>G | CA354159830 | CASR | c.2219T>G (p.Val740Gly) c.2480T>G (p.Val827Gly) c.2450T>G (p.Val817Gly) c.1967T>G (p.Val656Gly) c.1862T>G (p.Val621Gly) | |
| 3 | g.122284404T= | CA1397872354 | CASR | c.2219T= (p.Val740=) c.2480T= (p.Val827=) c.2450T= (p.Val817=) c.1967T= (p.Val656=) c.1862T= (p.Val621=) | |
| 3 | g.122284405C>A | CA435425289 | CASR | c.2220C>A (p.Val740=) c.2481C>A (p.Val827=) c.2451C>A (p.Val817=) c.1968C>A (p.Val656=) c.1863C>A (p.Val621=) | ClinVar |
| 3 | g.122284405C= | CA1397872357 | CASR | c.2220C= (p.Val740=) c.2481C= (p.Val827=) c.2451C= (p.Val817=) c.1968C= (p.Val656=) c.1863C= (p.Val621=) | |
| 3 | g.122284405C>G | CA435425290 | CASR | c.2220C>G (p.Val740=) c.2481C>G (p.Val827=) c.2451C>G (p.Val817=) c.1968C>G (p.Val656=) c.1863C>G (p.Val621=) | |
| 3 | g.122284405C>T | CA435425291 | CASR | c.2220C>T (p.Val740=) c.2481C>T (p.Val827=) c.2451C>T (p.Val817=) c.1968C>T (p.Val656=) c.1863C>T (p.Val621=) | ClinVar dbSNP gnomAD v2 |
| 3 | g.122284406T>A | CA354159833 | CASR | c.2221T>A (p.Trp741Arg) c.2482T>A (p.Trp828Arg) c.2452T>A (p.Trp818Arg) c.1969T>A (p.Trp657Arg) c.1864T>A (p.Trp622Arg) | |
| 3 | g.122284406T>C | CA354159834 | CASR | c.2221T>C (p.Trp741Arg) c.2482T>C (p.Trp828Arg) c.2452T>C (p.Trp818Arg) c.1969T>C (p.Trp657Arg) c.1864T>C (p.Trp622Arg) | ClinVar |
| 3 | g.122284406T>G | CA354159835 | CASR | c.2221T>G (p.Trp741Gly) c.2482T>G (p.Trp828Gly) c.2452T>G (p.Trp818Gly) c.1969T>G (p.Trp657Gly) c.1864T>G (p.Trp622Gly) | |
| 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=) |