UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122283852_122283886dup | CA1139658226 | CASR | c.1667_1701dup (p.Ala568CysfsTer?) c.1928_1962dup (p.Ala655CysfsTer?) c.1898_1932dup (p.Ala645CysfsTer?) c.1415_1449dup (p.Ala484CysfsTer?) c.1310_1344dup (p.Ala449CysfsTer?) | ClinVar dbSNP |
| 3 | g.122283870A= | CA1397871159 | CASR | c.1685A= (p.Asn562=) c.1946A= (p.Asn649=) c.1916A= (p.Asn639=) c.1433A= (p.Asn478=) c.1328A= (p.Asn443=) | |
| 3 | g.122283870A>C | CA354157967 | CASR | c.1685A>C (p.Asn562Thr) c.1946A>C (p.Asn649Thr) c.1916A>C (p.Asn639Thr) c.1433A>C (p.Asn478Thr) c.1328A>C (p.Asn443Thr) | |
| 3 | g.122283870A>G | CA354157969 | CASR | c.1685A>G (p.Asn562Ser) c.1946A>G (p.Asn649Ser) c.1916A>G (p.Asn639Ser) c.1433A>G (p.Asn478Ser) c.1328A>G (p.Asn443Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283870A>T | CA354157970 | CASR | c.1685A>T (p.Asn562Ile) c.1946A>T (p.Asn649Ile) c.1916A>T (p.Asn639Ile) c.1433A>T (p.Asn478Ile) c.1328A>T (p.Asn443Ile) | ClinVar |
| 3 | g.122283871C>A | CA354157973 | CASR | c.1686C>A (p.Asn562Lys) c.1947C>A (p.Asn649Lys) c.1917C>A (p.Asn639Lys) c.1434C>A (p.Asn478Lys) c.1329C>A (p.Asn443Lys) | COSMIC |
| 3 | g.122283871C>G | CA354157975 | CASR | c.1686C>G (p.Asn562Lys) c.1947C>G (p.Asn649Lys) c.1917C>G (p.Asn639Lys) c.1434C>G (p.Asn478Lys) c.1329C>G (p.Asn443Lys) | gnomAD v4 |
| 3 | g.122283871C>T | CA435251977 | CASR | c.1686C>T (p.Asn562=) c.1947C>T (p.Asn649=) c.1917C>T (p.Asn639=) c.1434C>T (p.Asn478=) c.1329C>T (p.Asn443=) | |
| 3 | g.122283872A>C | CA354157978 | CASR | c.1687A>C (p.Thr563Pro) c.1948A>C (p.Thr650Pro) c.1918A>C (p.Thr640Pro) c.1435A>C (p.Thr479Pro) c.1330A>C (p.Thr444Pro) | |
| 3 | g.122283872A>G | CA354157979 | CASR | c.1687A>G (p.Thr563Ala) c.1948A>G (p.Thr650Ala) c.1918A>G (p.Thr640Ala) c.1435A>G (p.Thr479Ala) c.1330A>G (p.Thr444Ala) | ClinVar |
| 3 | g.122283872A>T | CA354157980 | CASR | c.1687A>T (p.Thr563Ser) c.1948A>T (p.Thr650Ser) c.1918A>T (p.Thr640Ser) c.1435A>T (p.Thr479Ser) c.1330A>T (p.Thr444Ser) | |
| 3 | g.122283873C>A | CA354157985 | CASR | c.1688C>A (p.Thr563Lys) c.1949C>A (p.Thr650Lys) c.1919C>A (p.Thr640Lys) c.1436C>A (p.Thr479Lys) c.1331C>A (p.Thr444Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283873C= | CA1397871163 | CASR | c.1688C= (p.Thr563=) c.1949C= (p.Thr650=) c.1919C= (p.Thr640=) c.1436C= (p.Thr479=) c.1331C= (p.Thr444=) | |
| 3 | g.122283873C>G | CA354157987 | CASR | c.1688C>G (p.Thr563Arg) c.1949C>G (p.Thr650Arg) c.1919C>G (p.Thr640Arg) c.1436C>G (p.Thr479Arg) c.1331C>G (p.Thr444Arg) | |
| 3 | g.122283873C>T | CA354157983 | CASR | c.1688C>T (p.Thr563Ile) c.1949C>T (p.Thr650Ile) c.1919C>T (p.Thr640Ile) c.1436C>T (p.Thr479Ile) c.1331C>T (p.Thr444Ile) | ClinVar dbSNP |
| 3 | g.122283874A>C | CA435251981 | CASR | c.1689A>C (p.Thr563=) c.1950A>C (p.Thr650=) c.1920A>C (p.Thr640=) c.1437A>C (p.Thr479=) c.1332A>C (p.Thr444=) | |
| 3 | g.122283874A>G | CA435251983 | CASR | c.1689A>G (p.Thr563=) c.1950A>G (p.Thr650=) c.1920A>G (p.Thr640=) c.1437A>G (p.Thr479=) c.1332A>G (p.Thr444=) | gnomAD v4 |
| 3 | g.122283874A>T | CA435251982 | CASR | c.1689A>T (p.Thr563=) c.1950A>T (p.Thr650=) c.1920A>T (p.Thr640=) c.1437A>T (p.Thr479=) c.1332A>T (p.Thr444=) | |
| 3 | g.122283875C>A | CA354157989 | CASR | c.1690C>A (p.Pro564Thr) c.1951C>A (p.Pro651Thr) c.1921C>A (p.Pro641Thr) c.1438C>A (p.Pro480Thr) c.1333C>A (p.Pro445Thr) | |
| 3 | g.122283875C>G | CA354157991 | CASR | c.1690C>G (p.Pro564Ala) c.1951C>G (p.Pro651Ala) c.1921C>G (p.Pro641Ala) c.1438C>G (p.Pro480Ala) c.1333C>G (p.Pro445Ala) | gnomAD v4 |
| 3 | g.122283875C>T | CA354157993 | CASR | c.1690C>T (p.Pro564Ser) c.1951C>T (p.Pro651Ser) c.1921C>T (p.Pro641Ser) c.1438C>T (p.Pro480Ser) c.1333C>T (p.Pro445Ser) | |
| 3 | g.122283876C>A | CA354157995 | CASR | c.1691C>A (p.Pro564His) c.1952C>A (p.Pro651His) c.1922C>A (p.Pro641His) c.1439C>A (p.Pro480His) c.1334C>A (p.Pro445His) | |
| 3 | g.122283876C>G | CA354157997 | CASR | c.1691C>G (p.Pro564Arg) c.1952C>G (p.Pro651Arg) c.1922C>G (p.Pro641Arg) c.1439C>G (p.Pro480Arg) c.1334C>G (p.Pro445Arg) | |
| 3 | g.122283876C>T | CA354157999 | CASR | c.1691C>T (p.Pro564Leu) c.1952C>T (p.Pro651Leu) c.1922C>T (p.Pro641Leu) c.1439C>T (p.Pro480Leu) c.1334C>T (p.Pro445Leu) | |
| 3 | g.122283877C>A | CA435251987 | CASR | c.1692C>A (p.Pro564=) c.1953C>A (p.Pro651=) c.1923C>A (p.Pro641=) c.1440C>A (p.Pro480=) c.1335C>A (p.Pro445=) | gnomAD v4 |
| 3 | g.122283877C= | CA1397871171 | CASR | c.1692C= (p.Pro564=) c.1953C= (p.Pro651=) c.1923C= (p.Pro641=) c.1440C= (p.Pro480=) c.1335C= (p.Pro445=) | |
| 3 | g.122283877C>G | CA435251988 | CASR | c.1692C>G (p.Pro564=) c.1953C>G (p.Pro651=) c.1923C>G (p.Pro641=) c.1440C>G (p.Pro480=) c.1335C>G (p.Pro445=) | |
| 3 | g.122283877C>T | CA10614603 | CASR | c.1692C>T (p.Pro564=) c.1953C>T (p.Pro651=) c.1923C>T (p.Pro641=) c.1440C>T (p.Pro480=) c.1335C>T (p.Pro445=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283878A= | CA1397871178 | CASR | c.1693A= (p.Ile565=) c.1954A= (p.Ile652=) c.1924A= (p.Ile642=) c.1441A= (p.Ile481=) c.1336A= (p.Ile446=) | |
| 3 | g.122283878A>C | CA354158003 | CASR | c.1693A>C (p.Ile565Leu) c.1954A>C (p.Ile652Leu) c.1924A>C (p.Ile642Leu) c.1441A>C (p.Ile481Leu) c.1336A>C (p.Ile446Leu) | |
| 3 | g.122283878A>G | CA82748626 | CASR | c.1693A>G (p.Ile565Val) c.1954A>G (p.Ile652Val) c.1924A>G (p.Ile642Val) c.1441A>G (p.Ile481Val) c.1336A>G (p.Ile446Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283878A>T | CA354158005 | CASR | c.1693A>T (p.Ile565Phe) c.1954A>T (p.Ile652Phe) c.1924A>T (p.Ile642Phe) c.1441A>T (p.Ile481Phe) c.1336A>T (p.Ile446Phe) | |
| 3 | g.122283879T>A | CA354158009 | CASR | c.1694T>A (p.Ile565Asn) c.1955T>A (p.Ile652Asn) c.1925T>A (p.Ile642Asn) c.1442T>A (p.Ile481Asn) c.1337T>A (p.Ile446Asn) | |
| 3 | g.122283879T>C | CA354158010 | CASR | c.1694T>C (p.Ile565Thr) c.1955T>C (p.Ile652Thr) c.1925T>C (p.Ile642Thr) c.1442T>C (p.Ile481Thr) c.1337T>C (p.Ile446Thr) | ClinVar dbSNP |
| 3 | g.122283879T>G | CA354158012 | CASR | c.1694T>G (p.Ile565Ser) c.1955T>G (p.Ile652Ser) c.1925T>G (p.Ile642Ser) c.1442T>G (p.Ile481Ser) c.1337T>G (p.Ile446Ser) | |
| 3 | g.122283880T>A | CA435251992 | CASR | c.1695T>A (p.Ile565=) c.1956T>A (p.Ile652=) c.1926T>A (p.Ile642=) c.1443T>A (p.Ile481=) c.1338T>A (p.Ile446=) | |
| 3 | g.122283880T>C | CA435251993 | CASR | c.1695T>C (p.Ile565=) c.1956T>C (p.Ile652=) c.1926T>C (p.Ile642=) c.1443T>C (p.Ile481=) c.1338T>C (p.Ile446=) | |
| 3 | g.122283880T>G | CA354158014 | CASR | c.1695T>G (p.Ile565Met) c.1956T>G (p.Ile652Met) c.1926T>G (p.Ile642Met) c.1443T>G (p.Ile481Met) c.1338T>G (p.Ile446Met) | |
| 3 | g.122283881G>A | CA354158020 | CASR | c.1696G>A (p.Val566Ile) c.1957G>A (p.Val653Ile) c.1927G>A (p.Val643Ile) c.1444G>A (p.Val482Ile) c.1339G>A (p.Val447Ile) | ClinVar gnomAD v4 COSMIC |
| 3 | g.122283881G>C | CA354158018 | CASR | c.1696G>C (p.Val566Leu) c.1957G>C (p.Val653Leu) c.1927G>C (p.Val643Leu) c.1444G>C (p.Val482Leu) c.1339G>C (p.Val447Leu) | |
| 3 | g.122283881G>T | CA354158016 | CASR | c.1696G>T (p.Val566Phe) c.1957G>T (p.Val653Phe) c.1927G>T (p.Val643Phe) c.1444G>T (p.Val482Phe) c.1339G>T (p.Val447Phe) | |
| 3 | g.122283882T>A | CA354158022 | CASR | c.1697T>A (p.Val566Asp) c.1958T>A (p.Val653Asp) c.1928T>A (p.Val643Asp) c.1445T>A (p.Val482Asp) c.1340T>A (p.Val447Asp) | |
| 3 | g.122283882T>C | CA354158026 | CASR | c.1697T>C (p.Val566Ala) c.1958T>C (p.Val653Ala) c.1928T>C (p.Val643Ala) c.1445T>C (p.Val482Ala) c.1340T>C (p.Val447Ala) | COSMIC |
| 3 | g.122283882T>G | CA354158024 | CASR | c.1697T>G (p.Val566Gly) c.1958T>G (p.Val653Gly) c.1928T>G (p.Val643Gly) c.1445T>G (p.Val482Gly) c.1340T>G (p.Val447Gly) | |
| 3 | g.122283883C>A | CA435251996 | CASR | c.1698C>A (p.Val566=) c.1959C>A (p.Val653=) c.1929C>A (p.Val643=) c.1446C>A (p.Val482=) c.1341C>A (p.Val447=) | |
| 3 | g.122283883C>G | CA435251997 | CASR | c.1698C>G (p.Val566=) c.1959C>G (p.Val653=) c.1929C>G (p.Val643=) c.1446C>G (p.Val482=) c.1341C>G (p.Val447=) | |
| 3 | g.122283883C>T | CA435251998 | CASR | c.1698C>T (p.Val566=) c.1959C>T (p.Val653=) c.1929C>T (p.Val643=) c.1446C>T (p.Val482=) c.1341C>T (p.Val447=) | |
| 3 | g.122283884A>C | CA354158028 | CASR | c.1699A>C (p.Lys567Gln) c.1960A>C (p.Lys654Gln) c.1930A>C (p.Lys644Gln) c.1447A>C (p.Lys483Gln) c.1342A>C (p.Lys448Gln) | |
| 3 | g.122283884A>G | CA354158032 | CASR | c.1699A>G (p.Lys567Glu) c.1960A>G (p.Lys654Glu) c.1930A>G (p.Lys644Glu) c.1447A>G (p.Lys483Glu) c.1342A>G (p.Lys448Glu) | |
| 3 | g.122283884A>T | CA354158030 | CASR | c.1699A>T (p.Lys567Ter) c.1960A>T (p.Lys654Ter) c.1930A>T (p.Lys644Ter) c.1447A>T (p.Lys483Ter) c.1342A>T (p.Lys448Ter) | |
| 3 | g.122283885A>C | CA354158035 | CASR | c.1700A>C (p.Lys567Thr) c.1961A>C (p.Lys654Thr) c.1931A>C (p.Lys644Thr) c.1448A>C (p.Lys483Thr) c.1343A>C (p.Lys448Thr) | |
| 3 | g.122283885A>G | CA354158036 | CASR | c.1700A>G (p.Lys567Arg) c.1961A>G (p.Lys654Arg) c.1931A>G (p.Lys644Arg) c.1448A>G (p.Lys483Arg) c.1343A>G (p.Lys448Arg) | |
| 3 | g.122283885A>T | CA354158038 | CASR | c.1700A>T (p.Lys567Met) c.1961A>T (p.Lys654Met) c.1931A>T (p.Lys644Met) c.1448A>T (p.Lys483Met) c.1343A>T (p.Lys448Met) | |
| 3 | g.122283886G>A | CA435252002 | CASR | c.1701G>A (p.Lys567=) c.1962G>A (p.Lys654=) c.1932G>A (p.Lys644=) c.1449G>A (p.Lys483=) c.1344G>A (p.Lys448=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283886G>C | CA354158041 | CASR | c.1701G>C (p.Lys567Asn) c.1962G>C (p.Lys654Asn) c.1932G>C (p.Lys644Asn) c.1449G>C (p.Lys483Asn) c.1344G>C (p.Lys448Asn) | |
| 3 | g.122283886G= | CA1397871185 | CASR | c.1701G= (p.Lys567=) c.1962G= (p.Lys654=) c.1932G= (p.Lys644=) c.1449G= (p.Lys483=) c.1344G= (p.Lys448=) | |
| 3 | g.122283886G>T | CA354158043 | CASR | c.1701G>T (p.Lys567Asn) c.1962G>T (p.Lys654Asn) c.1932G>T (p.Lys644Asn) c.1449G>T (p.Lys483Asn) c.1344G>T (p.Lys448Asn) | |
| 3 | g.122283887G>A | CA354158045 | CASR | c.1702G>A (p.Ala568Thr) c.1963G>A (p.Ala655Thr) c.1933G>A (p.Ala645Thr) c.1450G>A (p.Ala484Thr) c.1345G>A (p.Ala449Thr) | ClinVar dbSNP |
| 3 | g.122283887G>C | CA354158047 | CASR | c.1702G>C (p.Ala568Pro) c.1963G>C (p.Ala655Pro) c.1933G>C (p.Ala645Pro) c.1450G>C (p.Ala484Pro) c.1345G>C (p.Ala449Pro) | |
| 3 | g.122283887G>T | CA354158050 | CASR | c.1702G>T (p.Ala568Ser) c.1963G>T (p.Ala655Ser) c.1933G>T (p.Ala645Ser) c.1450G>T (p.Ala484Ser) c.1345G>T (p.Ala449Ser) | |
| 3 | g.122283888C>A | CA213575 | CASR | c.1703C>A (p.Ala568Asp) c.1964C>A (p.Ala655Asp) c.1934C>A (p.Ala645Asp) c.1451C>A (p.Ala484Asp) c.1346C>A (p.Ala449Asp) | ClinVar dbSNP |
| 3 | g.122283888C= | CA1397871189 | CASR | c.1703C= (p.Ala568=) c.1964C= (p.Ala655=) c.1934C= (p.Ala645=) c.1451C= (p.Ala484=) c.1346C= (p.Ala449=) | |
| 3 | g.122283888C>G | CA354158053 | CASR | c.1703C>G (p.Ala568Gly) c.1964C>G (p.Ala655Gly) c.1934C>G (p.Ala645Gly) c.1451C>G (p.Ala484Gly) c.1346C>G (p.Ala449Gly) | |
| 3 | g.122283888C>T | CA354158055 | CASR | c.1703C>T (p.Ala568Val) c.1964C>T (p.Ala655Val) c.1934C>T (p.Ala645Val) c.1451C>T (p.Ala484Val) c.1346C>T (p.Ala449Val) | |
| 3 | g.122283889C>A | CA435252006 | CASR | c.1704C>A (p.Ala568=) c.1965C>A (p.Ala655=) c.1935C>A (p.Ala645=) c.1452C>A (p.Ala484=) c.1347C>A (p.Ala449=) | |
| 3 | g.122283889C>G | CA435252007 | CASR | c.1704C>G (p.Ala568=) c.1965C>G (p.Ala655=) c.1935C>G (p.Ala645=) c.1452C>G (p.Ala484=) c.1347C>G (p.Ala449=) | |
| 3 | g.122283889C>T | CA435252008 | CASR | c.1704C>T (p.Ala568=) c.1965C>T (p.Ala655=) c.1935C>T (p.Ala645=) c.1452C>T (p.Ala484=) c.1347C>T (p.Ala449=) | ClinVar |
| 3 | g.122283890A= | CA1397871193 | CASR | c.1705A= (p.Thr569=) c.1966A= (p.Thr656=) c.1936A= (p.Thr646=) c.1453A= (p.Thr485=) c.1348A= (p.Thr450=) | |
| 3 | g.122283890A>C | CA354158059 | CASR | c.1705A>C (p.Thr569Pro) c.1966A>C (p.Thr656Pro) c.1936A>C (p.Thr646Pro) c.1453A>C (p.Thr485Pro) c.1348A>C (p.Thr450Pro) | |
| 3 | g.122283890A>G | CA82748631 | CASR | c.1705A>G (p.Thr569Ala) c.1966A>G (p.Thr656Ala) c.1936A>G (p.Thr646Ala) c.1453A>G (p.Thr485Ala) c.1348A>G (p.Thr450Ala) | ClinVar dbSNP |
| 3 | g.122283890A>T | CA354158058 | CASR | c.1705A>T (p.Thr569Ser) c.1966A>T (p.Thr656Ser) c.1936A>T (p.Thr646Ser) c.1453A>T (p.Thr485Ser) c.1348A>T (p.Thr450Ser) | |
| 3 | g.122283891C>A | CA354158061 | CASR | c.1706C>A (p.Thr569Asn) c.1967C>A (p.Thr656Asn) c.1937C>A (p.Thr646Asn) c.1454C>A (p.Thr485Asn) c.1349C>A (p.Thr450Asn) | |
| 3 | g.122283891C>G | CA354158063 | CASR | c.1706C>G (p.Thr569Ser) c.1967C>G (p.Thr656Ser) c.1937C>G (p.Thr646Ser) c.1454C>G (p.Thr485Ser) c.1349C>G (p.Thr450Ser) | |
| 3 | g.122283891C>T | CA354158065 | CASR | c.1706C>T (p.Thr569Ile) c.1967C>T (p.Thr656Ile) c.1937C>T (p.Thr646Ile) c.1454C>T (p.Thr485Ile) c.1349C>T (p.Thr450Ile) | |
| 3 | g.122283891_122283892insAACCCAAACACACC | CA2758179533 | CASR | c.1706_1707insAACCCAAACACACC (p.Asn570ThrfsTer?) c.1967_1968insAACCCAAACACACC (p.Asn657ThrfsTer?) c.1937_1938insAACCCAAACACACC (p.Asn647ThrfsTer?) c.1454_1455insAACCCAAACACACC (p.Asn486ThrfsTer?) c.1349_1350insAACCCAAACACACC (p.Asn451ThrfsTer?) | |
| 3 | g.122283892C>A | CA435252012 | CASR | c.1707C>A (p.Thr569=) c.1968C>A (p.Thr656=) c.1938C>A (p.Thr646=) c.1455C>A (p.Thr485=) c.1350C>A (p.Thr450=) | |
| 3 | g.122283892C>G | CA435252013 | CASR | c.1707C>G (p.Thr569=) c.1968C>G (p.Thr656=) c.1938C>G (p.Thr646=) c.1455C>G (p.Thr485=) c.1350C>G (p.Thr450=) | gnomAD v4 |
| 3 | g.122283892C>T | CA435252014 | CASR | c.1707C>T (p.Thr569=) c.1968C>T (p.Thr656=) c.1938C>T (p.Thr646=) c.1455C>T (p.Thr485=) c.1350C>T (p.Thr450=) | |
| 3 | g.122283893A>C | CA354158067 | CASR | c.1708A>C (p.Asn570His) c.1969A>C (p.Asn657His) c.1939A>C (p.Asn647His) c.1456A>C (p.Asn486His) c.1351A>C (p.Asn451His) | gnomAD v3 gnomAD v4 |
| 3 | g.122283893A>G | CA354158069 | CASR | c.1708A>G (p.Asn570Asp) c.1969A>G (p.Asn657Asp) c.1939A>G (p.Asn647Asp) c.1456A>G (p.Asn486Asp) c.1351A>G (p.Asn451Asp) | |
| 3 | g.122283893A>T | CA354158071 | CASR | c.1708A>T (p.Asn570Tyr) c.1969A>T (p.Asn657Tyr) c.1939A>T (p.Asn647Tyr) c.1456A>T (p.Asn486Tyr) c.1351A>T (p.Asn451Tyr) | |
| 3 | g.122283894A>C | CA354158074 | CASR | c.1709A>C (p.Asn570Thr) c.1970A>C (p.Asn657Thr) c.1940A>C (p.Asn647Thr) c.1457A>C (p.Asn486Thr) c.1352A>C (p.Asn451Thr) | |
| 3 | g.122283894A>G | CA354158075 | CASR | c.1709A>G (p.Asn570Ser) c.1970A>G (p.Asn657Ser) c.1940A>G (p.Asn647Ser) c.1457A>G (p.Asn486Ser) c.1352A>G (p.Asn451Ser) | gnomAD v4 |
| 3 | g.122283894A>T | CA354158077 | CASR | c.1709A>T (p.Asn570Ile) c.1970A>T (p.Asn657Ile) c.1940A>T (p.Asn647Ile) c.1457A>T (p.Asn486Ile) c.1352A>T (p.Asn451Ile) | |
| 3 | g.122283895C>A | CA354158079 | CASR | c.1710C>A (p.Asn570Lys) c.1971C>A (p.Asn657Lys) c.1941C>A (p.Asn647Lys) c.1458C>A (p.Asn486Lys) c.1353C>A (p.Asn451Lys) | ClinVar |
| 3 | g.122283895C= | CA1397871196 | CASR | c.1710C= (p.Asn570=) c.1971C= (p.Asn657=) c.1941C= (p.Asn647=) c.1458C= (p.Asn486=) c.1353C= (p.Asn451=) | |
| 3 | g.122283895C>G | CA354158081 | CASR | c.1710C>G (p.Asn570Lys) c.1971C>G (p.Asn657Lys) c.1941C>G (p.Asn647Lys) c.1458C>G (p.Asn486Lys) c.1353C>G (p.Asn451Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283895C>T | CA435252016 | CASR | c.1710C>T (p.Asn570=) c.1971C>T (p.Asn657=) c.1941C>T (p.Asn647=) c.1458C>T (p.Asn486=) c.1353C>T (p.Asn451=) | ClinVar |
| 3 | g.122283896C>A | CA82748651 | CASR | c.1711C>A (p.Arg571=) c.1972C>A (p.Arg658=) c.1942C>A (p.Arg648=) c.1459C>A (p.Arg487=) c.1354C>A (p.Arg452=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283896C= | CA1397871203 | CASR | c.1711C= (p.Arg571=) c.1972C= (p.Arg658=) c.1942C= (p.Arg648=) c.1459C= (p.Arg487=) c.1354C= (p.Arg452=) | |
| 3 | g.122283896C>G | CA2569762 | CASR | c.1711C>G (p.Arg571Gly) c.1972C>G (p.Arg658Gly) c.1942C>G (p.Arg648Gly) c.1459C>G (p.Arg487Gly) c.1354C>G (p.Arg452Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122283896C>T | CA119517 | CASR | c.1711C>T (p.Arg571Ter) c.1972C>T (p.Arg658Ter) c.1942C>T (p.Arg648Ter) c.1459C>T (p.Arg487Ter) c.1354C>T (p.Arg452Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122283897G>A | CA82748652 | CASR | c.1712G>A (p.Arg571Gln) c.1973G>A (p.Arg658Gln) c.1943G>A (p.Arg648Gln) c.1460G>A (p.Arg487Gln) c.1355G>A (p.Arg452Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283897G>C | CA354158085 | CASR | c.1712G>C (p.Arg571Pro) c.1973G>C (p.Arg658Pro) c.1943G>C (p.Arg648Pro) c.1460G>C (p.Arg487Pro) c.1355G>C (p.Arg452Pro) | gnomAD v4 |
| 3 | g.122283897G= | CA1397871215 | CASR | c.1712G= (p.Arg571=) c.1973G= (p.Arg658=) c.1943G= (p.Arg648=) c.1460G= (p.Arg487=) c.1355G= (p.Arg452=) | |
| 3 | g.122283897G>T | CA2569763 | CASR | c.1712G>T (p.Arg571Leu) c.1973G>T (p.Arg658Leu) c.1943G>T (p.Arg648Leu) c.1460G>T (p.Arg487Leu) c.1355G>T (p.Arg452Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283898A= | CA1397871219 | CASR | c.1713A= (p.Arg571=) c.1974A= (p.Arg658=) c.1944A= (p.Arg648=) c.1461A= (p.Arg487=) c.1356A= (p.Arg452=) | |
| 3 | g.122283898A>C | CA435252021 | CASR | c.1713A>C (p.Arg571=) c.1974A>C (p.Arg658=) c.1944A>C (p.Arg648=) c.1461A>C (p.Arg487=) c.1356A>C (p.Arg452=) | ClinVar dbSNP |
| 3 | g.122283898A>G | CA435252020 | CASR | c.1713A>G (p.Arg571=) c.1974A>G (p.Arg658=) c.1944A>G (p.Arg648=) c.1461A>G (p.Arg487=) c.1356A>G (p.Arg452=) | dbSNP |
| 3 | g.122283898A>T | CA435252019 | CASR | c.1713A>T (p.Arg571=) c.1974A>T (p.Arg658=) c.1944A>T (p.Arg648=) c.1461A>T (p.Arg487=) c.1356A>T (p.Arg452=) | |
| 3 | g.122283899G>A | CA354158087 | CASR | c.1714G>A (p.Glu572Lys) c.1975G>A (p.Glu659Lys) c.1945G>A (p.Glu649Lys) c.1462G>A (p.Glu488Lys) c.1357G>A (p.Glu453Lys) | |
| 3 | g.122283899G>C | CA354158089 | CASR | c.1714G>C (p.Glu572Gln) c.1975G>C (p.Glu659Gln) c.1945G>C (p.Glu649Gln) c.1462G>C (p.Glu488Gln) c.1357G>C (p.Glu453Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122283899G= | CA1397871223 | CASR | c.1714G= (p.Glu572=) c.1975G= (p.Glu659=) c.1945G= (p.Glu649=) c.1462G= (p.Glu488=) c.1357G= (p.Glu453=) | |
| 3 | g.122283899G>T | CA354158090 | CASR | c.1714G>T (p.Glu572Ter) c.1975G>T (p.Glu659Ter) c.1945G>T (p.Glu649Ter) c.1462G>T (p.Glu488Ter) c.1357G>T (p.Glu453Ter) | |
| 3 | g.122283900A>C | CA354158096 | CASR | c.1715A>C (p.Glu572Ala) c.1976A>C (p.Glu659Ala) c.1946A>C (p.Glu649Ala) c.1463A>C (p.Glu488Ala) c.1358A>C (p.Glu453Ala) | |
| 3 | g.122283900A>G | CA354158092 | CASR | c.1715A>G (p.Glu572Gly) c.1976A>G (p.Glu659Gly) c.1946A>G (p.Glu649Gly) c.1463A>G (p.Glu488Gly) c.1358A>G (p.Glu453Gly) | |
| 3 | g.122283900A>T | CA354158094 | CASR | c.1715A>T (p.Glu572Val) c.1976A>T (p.Glu659Val) c.1946A>T (p.Glu649Val) c.1463A>T (p.Glu488Val) c.1358A>T (p.Glu453Val) | |
| 3 | g.122283901G>A | CA435252023 | CASR | c.1716G>A (p.Glu572=) c.1977G>A (p.Glu659=) c.1947G>A (p.Glu649=) c.1464G>A (p.Glu488=) c.1359G>A (p.Glu453=) | |
| 3 | g.122283901G>C | CA354158098 | CASR | c.1716G>C (p.Glu572Asp) c.1977G>C (p.Glu659Asp) c.1947G>C (p.Glu649Asp) c.1464G>C (p.Glu488Asp) c.1359G>C (p.Glu453Asp) | |
| 3 | g.122283901G>T | CA354158100 | CASR | c.1716G>T (p.Glu572Asp) c.1977G>T (p.Glu659Asp) c.1947G>T (p.Glu649Asp) c.1464G>T (p.Glu488Asp) c.1359G>T (p.Glu453Asp) | |
| 3 | g.122283902C>A | CA354158102 | CASR | c.1717C>A (p.Leu573Ile) c.1978C>A (p.Leu660Ile) c.1948C>A (p.Leu650Ile) c.1465C>A (p.Leu489Ile) c.1360C>A (p.Leu454Ile) | |
| 3 | g.122283902C= | CA1397871229 | CASR | c.1717C= (p.Leu573=) c.1978C= (p.Leu660=) c.1948C= (p.Leu650=) c.1465C= (p.Leu489=) c.1360C= (p.Leu454=) | |
| 3 | g.122283902C>G | CA354158104 | CASR | c.1717C>G (p.Leu573Val) c.1978C>G (p.Leu660Val) c.1948C>G (p.Leu650Val) c.1465C>G (p.Leu489Val) c.1360C>G (p.Leu454Val) | |
| 3 | g.122283902C>T | CA354158106 | CASR | c.1717C>T (p.Leu573Phe) c.1978C>T (p.Leu660Phe) c.1948C>T (p.Leu650Phe) c.1465C>T (p.Leu489Phe) c.1360C>T (p.Leu454Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283906_122283920del | CA2586972861 | CASR | c.1721_1735del (p.Ser574_Leu578del) c.1982_1996del (p.Ser661_Leu665del) c.1952_1966del (p.Ser651_Leu655del) c.1469_1483del (p.Ser490_Leu494del) c.1364_1378del (p.Ser455_Leu459del) | |
| 3 | g.122283903T>A | CA354158108 | CASR | c.1718T>A (p.Leu573His) c.1979T>A (p.Leu660His) c.1949T>A (p.Leu650His) c.1466T>A (p.Leu489His) c.1361T>A (p.Leu454His) | |
| 3 | g.122283903T>C | CA354158112 | CASR | c.1718T>C (p.Leu573Pro) c.1979T>C (p.Leu660Pro) c.1949T>C (p.Leu650Pro) c.1466T>C (p.Leu489Pro) c.1361T>C (p.Leu454Pro) | ClinVar dbSNP |
| 3 | g.122283903T>G | CA354158110 | CASR | c.1718T>G (p.Leu573Arg) c.1979T>G (p.Leu660Arg) c.1949T>G (p.Leu650Arg) c.1466T>G (p.Leu489Arg) c.1361T>G (p.Leu454Arg) | |
| 3 | g.122283904C>A | CA435252027 | CASR | c.1719C>A (p.Leu573=) c.1980C>A (p.Leu660=) c.1950C>A (p.Leu650=) c.1467C>A (p.Leu489=) c.1362C>A (p.Leu454=) | |
| 3 | g.122283904C>G | CA435252028 | CASR | c.1719C>G (p.Leu573=) c.1980C>G (p.Leu660=) c.1950C>G (p.Leu650=) c.1467C>G (p.Leu489=) c.1362C>G (p.Leu454=) | |
| 3 | g.122283904C>T | CA435252029 | CASR | c.1719C>T (p.Leu573=) c.1980C>T (p.Leu660=) c.1950C>T (p.Leu650=) c.1467C>T (p.Leu489=) c.1362C>T (p.Leu454=) | |
| 3 | g.122283905T>A | CA354158115 | CASR | c.1720T>A (p.Ser574Thr) c.1981T>A (p.Ser661Thr) c.1951T>A (p.Ser651Thr) c.1468T>A (p.Ser490Thr) c.1363T>A (p.Ser455Thr) | |
| 3 | g.122283905T>C | CA354158116 | CASR | c.1720T>C (p.Ser574Pro) c.1981T>C (p.Ser661Pro) c.1951T>C (p.Ser651Pro) c.1468T>C (p.Ser490Pro) c.1363T>C (p.Ser455Pro) | ClinVar dbSNP |
| 3 | g.122283905T>G | CA354158118 | CASR | c.1720T>G (p.Ser574Ala) c.1981T>G (p.Ser661Ala) c.1951T>G (p.Ser651Ala) c.1468T>G (p.Ser490Ala) c.1363T>G (p.Ser455Ala) | |
| 3 | g.122283905T= | CA1397871236 | CASR | c.1720T= (p.Ser574=) c.1981T= (p.Ser661=) c.1951T= (p.Ser651=) c.1468T= (p.Ser490=) c.1363T= (p.Ser455=) | |
| 3 | g.122283906C>A | CA354158121 | CASR | c.1721C>A (p.Ser574Tyr) c.1982C>A (p.Ser661Tyr) c.1952C>A (p.Ser651Tyr) c.1469C>A (p.Ser490Tyr) c.1364C>A (p.Ser455Tyr) | ClinVar dbSNP |
| 3 | g.122283906C= | CA1397871241 | CASR | c.1721C= (p.Ser574=) c.1982C= (p.Ser661=) c.1952C= (p.Ser651=) c.1469C= (p.Ser490=) c.1364C= (p.Ser455=) | |
| 3 | g.122283906C>G | CA354158122 | CASR | c.1721C>G (p.Ser574Cys) c.1982C>G (p.Ser661Cys) c.1952C>G (p.Ser651Cys) c.1469C>G (p.Ser490Cys) c.1364C>G (p.Ser455Cys) | |
| 3 | g.122283906C>T | CA354158124 | CASR | c.1721C>T (p.Ser574Phe) c.1982C>T (p.Ser661Phe) c.1952C>T (p.Ser651Phe) c.1469C>T (p.Ser490Phe) c.1364C>T (p.Ser455Phe) | ClinVar dbSNP |
| 3 | g.122283907C>A | CA435252032 | CASR | c.1722C>A (p.Ser574=) c.1983C>A (p.Ser661=) c.1953C>A (p.Ser651=) c.1470C>A (p.Ser490=) c.1365C>A (p.Ser455=) | |
| 3 | g.122283907C>G | CA435252034 | CASR | c.1722C>G (p.Ser574=) c.1983C>G (p.Ser661=) c.1953C>G (p.Ser651=) c.1470C>G (p.Ser490=) c.1365C>G (p.Ser455=) | |
| 3 | g.122283907C>T | CA435252035 | CASR | c.1722C>T (p.Ser574=) c.1983C>T (p.Ser661=) c.1953C>T (p.Ser651=) c.1470C>T (p.Ser490=) c.1365C>T (p.Ser455=) | |
| 3 | g.122283908T>A | CA354158127 | CASR | c.1723T>A (p.Tyr575Asn) c.1984T>A (p.Tyr662Asn) c.1954T>A (p.Tyr652Asn) c.1471T>A (p.Tyr491Asn) c.1366T>A (p.Tyr456Asn) | |
| 3 | g.122283908T>C | CA354158130 | CASR | c.1723T>C (p.Tyr575His) c.1984T>C (p.Tyr662His) c.1954T>C (p.Tyr652His) c.1471T>C (p.Tyr491His) c.1366T>C (p.Tyr456His) | |
| 3 | g.122283908T>G | CA354158131 | CASR | c.1723T>G (p.Tyr575Asp) c.1984T>G (p.Tyr662Asp) c.1954T>G (p.Tyr652Asp) c.1471T>G (p.Tyr491Asp) c.1366T>G (p.Tyr456Asp) | |
| 3 | g.122283909A>C | CA354158134 | CASR | c.1724A>C (p.Tyr575Ser) c.1985A>C (p.Tyr662Ser) c.1955A>C (p.Tyr652Ser) c.1472A>C (p.Tyr491Ser) c.1367A>C (p.Tyr456Ser) | |
| 3 | g.122283909A>G | CA354158136 | CASR | c.1724A>G (p.Tyr575Cys) c.1985A>G (p.Tyr662Cys) c.1955A>G (p.Tyr652Cys) c.1472A>G (p.Tyr491Cys) c.1367A>G (p.Tyr456Cys) | |
| 3 | g.122283909A>T | CA354158138 | CASR | c.1724A>T (p.Tyr575Phe) c.1985A>T (p.Tyr662Phe) c.1955A>T (p.Tyr652Phe) c.1472A>T (p.Tyr491Phe) c.1367A>T (p.Tyr456Phe) | |
| 3 | g.122283910C>A | CA354158140 | CASR | c.1725C>A (p.Tyr575Ter) c.1986C>A (p.Tyr662Ter) c.1956C>A (p.Tyr652Ter) c.1473C>A (p.Tyr491Ter) c.1368C>A (p.Tyr456Ter) | |
| 3 | g.122283910C>G | CA354158142 | CASR | c.1725C>G (p.Tyr575Ter) c.1986C>G (p.Tyr662Ter) c.1956C>G (p.Tyr652Ter) c.1473C>G (p.Tyr491Ter) c.1368C>G (p.Tyr456Ter) | |
| 3 | g.122283910C>T | CA435424817 | CASR | c.1725C>T (p.Tyr575=) c.1986C>T (p.Tyr662=) c.1956C>T (p.Tyr652=) c.1473C>T (p.Tyr491=) c.1368C>T (p.Tyr456=) | gnomAD v4 |
| 3 | g.122283917_122283919del | CA2586972862 | CASR | c.1732_1734del (p.Leu578del) c.1993_1995del (p.Leu665del) c.1963_1965del (p.Leu655del) c.1480_1482del (p.Leu494del) c.1375_1377del (p.Leu459del) | gnomAD v4 |
| 3 | g.122283911C>A | CA354158144 | CASR | c.1726C>A (p.Leu576Ile) c.1987C>A (p.Leu663Ile) c.1957C>A (p.Leu653Ile) c.1474C>A (p.Leu492Ile) c.1369C>A (p.Leu457Ile) | |
| 3 | g.122283911C= | CA1397871245 | CASR | c.1726C= (p.Leu576=) c.1987C= (p.Leu663=) c.1957C= (p.Leu653=) c.1474C= (p.Leu492=) c.1369C= (p.Leu457=) | |
| 3 | g.122283911C>G | CA354158148 | CASR | c.1726C>G (p.Leu576Val) c.1987C>G (p.Leu663Val) c.1957C>G (p.Leu653Val) c.1474C>G (p.Leu492Val) c.1369C>G (p.Leu457Val) | |
| 3 | g.122283911C>T | CA354158146 | CASR | c.1726C>T (p.Leu576Phe) c.1987C>T (p.Leu663Phe) c.1957C>T (p.Leu653Phe) c.1474C>T (p.Leu492Phe) c.1369C>T (p.Leu457Phe) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122283912T>A | CA354158150 | CASR | c.1727T>A (p.Leu576His) c.1988T>A (p.Leu663His) c.1958T>A (p.Leu653His) c.1475T>A (p.Leu492His) c.1370T>A (p.Leu457His) | |
| 3 | g.122283912T>C | CA354158152 | CASR | c.1727T>C (p.Leu576Pro) c.1988T>C (p.Leu663Pro) c.1958T>C (p.Leu653Pro) c.1475T>C (p.Leu492Pro) c.1370T>C (p.Leu457Pro) | |
| 3 | g.122283912T>G | CA354158154 | CASR | c.1727T>G (p.Leu576Arg) c.1988T>G (p.Leu663Arg) c.1958T>G (p.Leu653Arg) c.1475T>G (p.Leu492Arg) c.1370T>G (p.Leu457Arg) | |
| 3 | g.122283913C>A | CA435424823 | CASR | c.1728C>A (p.Leu576=) c.1989C>A (p.Leu663=) c.1959C>A (p.Leu653=) c.1476C>A (p.Leu492=) c.1371C>A (p.Leu457=) | |
| 3 | g.122283913C= | CA1397871255 | CASR | c.1728C= (p.Leu576=) c.1989C= (p.Leu663=) c.1959C= (p.Leu653=) c.1476C= (p.Leu492=) c.1371C= (p.Leu457=) | |
| 3 | g.122283913C>G | CA435424824 | CASR | c.1728C>G (p.Leu576=) c.1989C>G (p.Leu663=) c.1959C>G (p.Leu653=) c.1476C>G (p.Leu492=) c.1371C>G (p.Leu457=) | |
| 3 | g.122283913C>T | CA2569764 | CASR | c.1728C>T (p.Leu576=) c.1989C>T (p.Leu663=) c.1959C>T (p.Leu653=) c.1476C>T (p.Leu492=) c.1371C>T (p.Leu457=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283914C>A | CA354158158 | CASR | c.1729C>A (p.Leu577Ile) c.1990C>A (p.Leu664Ile) c.1960C>A (p.Leu654Ile) c.1477C>A (p.Leu493Ile) c.1372C>A (p.Leu458Ile) | |
| 3 | g.122283914C= | CA1397871259 | CASR | c.1729C= (p.Leu577=) c.1990C= (p.Leu664=) c.1960C= (p.Leu654=) c.1477C= (p.Leu493=) c.1372C= (p.Leu458=) | |
| 3 | g.122283914C>G | CA354158159 | CASR | c.1729C>G (p.Leu577Val) c.1990C>G (p.Leu664Val) c.1960C>G (p.Leu654Val) c.1477C>G (p.Leu493Val) c.1372C>G (p.Leu458Val) | gnomAD v4 |
| 3 | g.122283914C>T | CA354158161 | CASR | c.1729C>T (p.Leu577Phe) c.1990C>T (p.Leu664Phe) c.1960C>T (p.Leu654Phe) c.1477C>T (p.Leu493Phe) c.1372C>T (p.Leu458Phe) | ClinVar dbSNP |
| 3 | g.122283915T>A | CA354158164 | CASR | c.1730T>A (p.Leu577His) c.1991T>A (p.Leu664His) c.1961T>A (p.Leu654His) c.1478T>A (p.Leu493His) c.1373T>A (p.Leu458His) | |
| 3 | g.122283915T>C | CA354158166 | CASR | c.1730T>C (p.Leu577Pro) c.1991T>C (p.Leu664Pro) c.1961T>C (p.Leu654Pro) c.1478T>C (p.Leu493Pro) c.1373T>C (p.Leu458Pro) | |
| 3 | g.122283915T>G | CA354158168 | CASR | c.1730T>G (p.Leu577Arg) c.1991T>G (p.Leu664Arg) c.1961T>G (p.Leu654Arg) c.1478T>G (p.Leu493Arg) c.1373T>G (p.Leu458Arg) | |
| 3 | g.122283916C>A | CA2569765 | CASR | c.1731C>A (p.Leu577=) c.1992C>A (p.Leu664=) c.1962C>A (p.Leu654=) c.1479C>A (p.Leu493=) c.1374C>A (p.Leu458=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283916C= | CA1397871263 | CASR | c.1731C= (p.Leu577=) c.1992C= (p.Leu664=) c.1962C= (p.Leu654=) c.1479C= (p.Leu493=) c.1374C= (p.Leu458=) | |
| 3 | g.122283916C>G | CA435424825 | CASR | c.1731C>G (p.Leu577=) c.1992C>G (p.Leu664=) c.1962C>G (p.Leu654=) c.1479C>G (p.Leu493=) c.1374C>G (p.Leu458=) | |
| 3 | g.122283916C>T | CA82748667 | CASR | c.1731C>T (p.Leu577=) c.1992C>T (p.Leu664=) c.1962C>T (p.Leu654=) c.1479C>T (p.Leu493=) c.1374C>T (p.Leu458=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122283917C>A | CA354158175 | CASR | c.1732C>A (p.Leu578Ile) c.1993C>A (p.Leu665Ile) c.1963C>A (p.Leu655Ile) c.1480C>A (p.Leu494Ile) c.1375C>A (p.Leu459Ile) | |
| 3 | g.122283917C= | CA1397871271 | CASR | c.1732C= (p.Leu578=) c.1993C= (p.Leu665=) c.1963C= (p.Leu655=) c.1480C= (p.Leu494=) c.1375C= (p.Leu459=) | |
| 3 | g.122283917C>G | CA354158171 | CASR | c.1732C>G (p.Leu578Val) c.1993C>G (p.Leu665Val) c.1963C>G (p.Leu655Val) c.1480C>G (p.Leu494Val) c.1375C>G (p.Leu459Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283917C>T | CA354158173 | CASR | c.1732C>T (p.Leu578Phe) c.1993C>T (p.Leu665Phe) c.1963C>T (p.Leu655Phe) c.1480C>T (p.Leu494Phe) c.1375C>T (p.Leu459Phe) | |
| 3 | g.122283918T>A | CA354158177 | CASR | c.1733T>A (p.Leu578His) c.1994T>A (p.Leu665His) c.1964T>A (p.Leu655His) c.1481T>A (p.Leu494His) c.1376T>A (p.Leu459His) | COSMIC |
| 3 | g.122283918T>C | CA354158179 | CASR | c.1733T>C (p.Leu578Pro) c.1994T>C (p.Leu665Pro) c.1964T>C (p.Leu655Pro) c.1481T>C (p.Leu494Pro) c.1376T>C (p.Leu459Pro) | gnomAD v4 |
| 3 | g.122283918T>G | CA354158181 | CASR | c.1733T>G (p.Leu578Arg) c.1994T>G (p.Leu665Arg) c.1964T>G (p.Leu655Arg) c.1481T>G (p.Leu494Arg) c.1376T>G (p.Leu459Arg) | |
| 3 | g.122283919C>A | CA435424830 | CASR | c.1734C>A (p.Leu578=) c.1995C>A (p.Leu665=) c.1965C>A (p.Leu655=) c.1482C>A (p.Leu494=) c.1377C>A (p.Leu459=) | |
| 3 | g.122283919C= | CA1397871276 | CASR | c.1734C= (p.Leu578=) c.1995C= (p.Leu665=) c.1965C= (p.Leu655=) c.1482C= (p.Leu494=) c.1377C= (p.Leu459=) | |
| 3 | g.122283919C>G | CA435424832 | CASR | c.1734C>G (p.Leu578=) c.1995C>G (p.Leu665=) c.1965C>G (p.Leu655=) c.1482C>G (p.Leu494=) c.1377C>G (p.Leu459=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283919C>T | CA435424834 | CASR | c.1734C>T (p.Leu578=) c.1995C>T (p.Leu665=) c.1965C>T (p.Leu655=) c.1482C>T (p.Leu494=) c.1377C>T (p.Leu459=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283920T>A | CA354158183 | CASR | c.1735T>A (p.Phe579Ile) c.1996T>A (p.Phe666Ile) c.1966T>A (p.Phe656Ile) c.1483T>A (p.Phe495Ile) c.1378T>A (p.Phe460Ile) | |
| 3 | g.122283920T>C | CA354158186 | CASR | c.1735T>C (p.Phe579Leu) c.1996T>C (p.Phe666Leu) c.1966T>C (p.Phe656Leu) c.1483T>C (p.Phe495Leu) c.1378T>C (p.Phe460Leu) | |
| 3 | g.122283920T>G | CA354158187 | CASR | c.1735T>G (p.Phe579Val) c.1996T>G (p.Phe666Val) c.1966T>G (p.Phe656Val) c.1483T>G (p.Phe495Val) c.1378T>G (p.Phe460Val) | |
| 3 | g.122283921T>A | CA354158190 | CASR | c.1736T>A (p.Phe579Tyr) c.1997T>A (p.Phe666Tyr) c.1967T>A (p.Phe656Tyr) c.1484T>A (p.Phe495Tyr) c.1379T>A (p.Phe460Tyr) | |
| 3 | g.122283921T>C | CA354158192 | CASR | c.1736T>C (p.Phe579Ser) c.1997T>C (p.Phe666Ser) c.1967T>C (p.Phe656Ser) c.1484T>C (p.Phe495Ser) c.1379T>C (p.Phe460Ser) | |
| 3 | g.122283921T>G | CA354158193 | CASR | c.1736T>G (p.Phe579Cys) c.1997T>G (p.Phe666Cys) c.1967T>G (p.Phe656Cys) c.1484T>G (p.Phe495Cys) c.1379T>G (p.Phe460Cys) | |
| 3 | g.122283922C>A | CA354158196 | CASR | c.1737C>A (p.Phe579Leu) c.1998C>A (p.Phe666Leu) c.1968C>A (p.Phe656Leu) c.1485C>A (p.Phe495Leu) c.1380C>A (p.Phe460Leu) | ClinVar dbSNP |
| 3 | g.122283922C= | CA1397871280 | CASR | c.1737C= (p.Phe579=) c.1998C= (p.Phe666=) c.1968C= (p.Phe656=) c.1485C= (p.Phe495=) c.1380C= (p.Phe460=) | |
| 3 | g.122283922C>G | CA354158198 | CASR | c.1737C>G (p.Phe579Leu) c.1998C>G (p.Phe666Leu) c.1968C>G (p.Phe656Leu) c.1485C>G (p.Phe495Leu) c.1380C>G (p.Phe460Leu) | |
| 3 | g.122283922C>T | CA435424840 | CASR | c.1737C>T (p.Phe579=) c.1998C>T (p.Phe666=) c.1968C>T (p.Phe656=) c.1485C>T (p.Phe495=) c.1380C>T (p.Phe460=) | ClinVar |
| 3 | g.122283923T>A | CA354158201 | CASR | c.1738T>A (p.Ser580Thr) c.1999T>A (p.Ser667Thr) c.1969T>A (p.Ser657Thr) c.1486T>A (p.Ser496Thr) c.1381T>A (p.Ser461Thr) | |
| 3 | g.122283923T>C | CA354158203 | CASR | c.1738T>C (p.Ser580Pro) c.1999T>C (p.Ser667Pro) c.1969T>C (p.Ser657Pro) c.1486T>C (p.Ser496Pro) c.1381T>C (p.Ser461Pro) | |
| 3 | g.122283923T>G | CA354158199 | CASR | c.1738T>G (p.Ser580Ala) c.1999T>G (p.Ser667Ala) c.1969T>G (p.Ser657Ala) c.1486T>G (p.Ser496Ala) c.1381T>G (p.Ser461Ala) | |
| 3 | g.122283923_122283924delinsTC | CA1397871282 | CASR | c.1738_1739delinsTC (p.Ser580=) c.1999_2000delinsTC (p.Ser667=) c.1969_1970delinsTC (p.Ser657=) c.1486_1487delinsTC (p.Ser496=) c.1381_1382delinsTC (p.Ser461=) | |
| 3 | g.122283924C>A | CA354158205 | CASR | c.1739C>A (p.Ser580Tyr) c.2000C>A (p.Ser667Tyr) c.1970C>A (p.Ser657Tyr) c.1487C>A (p.Ser496Tyr) c.1382C>A (p.Ser461Tyr) | ClinVar |
| 3 | g.122283924C>G | CA354158207 | CASR | c.1739C>G (p.Ser580Cys) c.2000C>G (p.Ser667Cys) c.1970C>G (p.Ser657Cys) c.1487C>G (p.Ser496Cys) c.1382C>G (p.Ser461Cys) | |
| 3 | g.122283924C>T | CA354158209 | CASR | c.1739C>T (p.Ser580Phe) c.2000C>T (p.Ser667Phe) c.1970C>T (p.Ser657Phe) c.1487C>T (p.Ser496Phe) c.1382C>T (p.Ser461Phe) | |
| 3 | g.122283926del | CA658657328 | CASR | c.1741del (p.Leu581CysfsTer?) c.2002del (p.Leu668CysfsTer?) c.1972del (p.Leu658CysfsTer?) c.1489del (p.Leu497CysfsTer?) c.1384del (p.Leu462CysfsTer?) | ClinVar dbSNP |
| 3 | g.122283925C>A | CA435424845 | CASR | c.1740C>A (p.Ser580=) c.2001C>A (p.Ser667=) c.1971C>A (p.Ser657=) c.1488C>A (p.Ser496=) c.1383C>A (p.Ser461=) | |
| 3 | g.122283925C>G | CA435424846 | CASR | c.1740C>G (p.Ser580=) c.2001C>G (p.Ser667=) c.1971C>G (p.Ser657=) c.1488C>G (p.Ser496=) c.1383C>G (p.Ser461=) | |
| 3 | g.122283925C>T | CA435424847 | CASR | c.1740C>T (p.Ser580=) c.2001C>T (p.Ser667=) c.1971C>T (p.Ser657=) c.1488C>T (p.Ser496=) c.1383C>T (p.Ser461=) | |
| 3 | g.122283926C>A | CA82748681 | CASR | c.1741C>A (p.Leu581Met) c.2002C>A (p.Leu668Met) c.1972C>A (p.Leu658Met) c.1489C>A (p.Leu497Met) c.1384C>A (p.Leu462Met) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283926C= | CA1397871293 | CASR | c.1741C= (p.Leu581=) c.2002C= (p.Leu668=) c.1972C= (p.Leu658=) c.1489C= (p.Leu497=) c.1384C= (p.Leu462=) | |
| 3 | g.122283926C>G | CA354158211 | CASR | c.1741C>G (p.Leu581Val) c.2002C>G (p.Leu668Val) c.1972C>G (p.Leu658Val) c.1489C>G (p.Leu497Val) c.1384C>G (p.Leu462Val) | |
| 3 | g.122283926C>T | CA435424849 | CASR | c.1741C>T (p.Leu581=) c.2002C>T (p.Leu668=) c.1972C>T (p.Leu658=) c.1489C>T (p.Leu497=) c.1384C>T (p.Leu462=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283927T>A | CA354158212 | CASR | c.1742T>A (p.Leu581Gln) c.2003T>A (p.Leu668Gln) c.1973T>A (p.Leu658Gln) c.1490T>A (p.Leu497Gln) c.1385T>A (p.Leu462Gln) | |
| 3 | g.122283927T>C | CA354158213 | CASR | c.1742T>C (p.Leu581Pro) c.2003T>C (p.Leu668Pro) c.1973T>C (p.Leu658Pro) c.1490T>C (p.Leu497Pro) c.1385T>C (p.Leu462Pro) | ClinVar |
| 3 | g.122283927T>G | CA354158214 | CASR | c.1742T>G (p.Leu581Arg) c.2003T>G (p.Leu668Arg) c.1973T>G (p.Leu658Arg) c.1490T>G (p.Leu497Arg) c.1385T>G (p.Leu462Arg) | |
| 3 | g.122283928G>A | CA435424850 | CASR | c.1743G>A (p.Leu581=) c.2004G>A (p.Leu668=) c.1974G>A (p.Leu658=) c.1491G>A (p.Leu497=) c.1386G>A (p.Leu462=) | ClinVar |
| 3 | g.122283928G>C | CA435424851 | CASR | c.1743G>C (p.Leu581=) c.2004G>C (p.Leu668=) c.1974G>C (p.Leu658=) c.1491G>C (p.Leu497=) c.1386G>C (p.Leu462=) | |
| 3 | g.122283928G= | CA1397871299 | CASR | c.1743G= (p.Leu581=) c.2004G= (p.Leu668=) c.1974G= (p.Leu658=) c.1491G= (p.Leu497=) c.1386G= (p.Leu462=) | |
| 3 | g.122283928G>T | CA2569766 | CASR | c.1743G>T (p.Leu581=) c.2004G>T (p.Leu668=) c.1974G>T (p.Leu658=) c.1491G>T (p.Leu497=) c.1386G>T (p.Leu462=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283929C>A | CA354158215 | CASR | c.1744C>A (p.Leu582Ile) c.2005C>A (p.Leu669Ile) c.1975C>A (p.Leu659Ile) c.1492C>A (p.Leu498Ile) c.1387C>A (p.Leu463Ile) | |
| 3 | g.122283929C>G | CA354158216 | CASR | c.1744C>G (p.Leu582Val) c.2005C>G (p.Leu669Val) c.1975C>G (p.Leu659Val) c.1492C>G (p.Leu498Val) c.1387C>G (p.Leu463Val) | |
| 3 | g.122283929C>T | CA354158217 | CASR | c.1744C>T (p.Leu582Phe) c.2005C>T (p.Leu669Phe) c.1975C>T (p.Leu659Phe) c.1492C>T (p.Leu498Phe) c.1387C>T (p.Leu463Phe) | |
| 3 | g.122283930T>A | CA354158219 | CASR | c.1745T>A (p.Leu582His) c.2006T>A (p.Leu669His) c.1976T>A (p.Leu659His) c.1493T>A (p.Leu498His) c.1388T>A (p.Leu463His) | |
| 3 | g.122283930T>C | CA354158220 | CASR | c.1745T>C (p.Leu582Pro) c.2006T>C (p.Leu669Pro) c.1976T>C (p.Leu659Pro) c.1493T>C (p.Leu498Pro) c.1388T>C (p.Leu463Pro) | gnomAD v4 |
| 3 | g.122283930T>G | CA354158218 | CASR | c.1745T>G (p.Leu582Arg) c.2006T>G (p.Leu669Arg) c.1976T>G (p.Leu659Arg) c.1493T>G (p.Leu498Arg) c.1388T>G (p.Leu463Arg) | |
| 3 | g.122283931C>A | CA435424856 | CASR | c.1746C>A (p.Leu582=) c.2007C>A (p.Leu669=) c.1977C>A (p.Leu659=) c.1494C>A (p.Leu498=) c.1389C>A (p.Leu463=) | |
| 3 | g.122283931C= | CA1397871307 | CASR | c.1746C= (p.Leu582=) c.2007C= (p.Leu669=) c.1977C= (p.Leu659=) c.1494C= (p.Leu498=) c.1389C= (p.Leu463=) | |
| 3 | g.122283931C>G | CA435424858 | CASR | c.1746C>G (p.Leu582=) c.2007C>G (p.Leu669=) c.1977C>G (p.Leu659=) c.1494C>G (p.Leu498=) c.1389C>G (p.Leu463=) | ClinVar dbSNP |
| 3 | g.122283931C>T | CA435424859 | CASR | c.1746C>T (p.Leu582=) c.2007C>T (p.Leu669=) c.1977C>T (p.Leu659=) c.1494C>T (p.Leu498=) c.1389C>T (p.Leu463=) | ClinVar dbSNP |
| 3 | g.122283932T>A | CA354158221 | CASR | c.1747T>A (p.Cys583Ser) c.2008T>A (p.Cys670Ser) c.1978T>A (p.Cys660Ser) c.1495T>A (p.Cys499Ser) c.1390T>A (p.Cys464Ser) | |
| 3 | g.122283932T>C | CA354158222 | CASR | c.1747T>C (p.Cys583Arg) c.2008T>C (p.Cys670Arg) c.1978T>C (p.Cys660Arg) c.1495T>C (p.Cys499Arg) c.1390T>C (p.Cys464Arg) | |
| 3 | g.122283932T>G | CA354158223 | CASR | c.1747T>G (p.Cys583Gly) c.2008T>G (p.Cys670Gly) c.1978T>G (p.Cys660Gly) c.1495T>G (p.Cys499Gly) c.1390T>G (p.Cys464Gly) | |
| 3 | g.122283933G>A | CA354158224 | CASR | c.1748G>A (p.Cys583Tyr) c.2009G>A (p.Cys670Tyr) c.1979G>A (p.Cys660Tyr) c.1496G>A (p.Cys499Tyr) c.1391G>A (p.Cys464Tyr) | ClinVar gnomAD v4 |
| 3 | g.122283933G>C | CA354158225 | CASR | c.1748G>C (p.Cys583Ser) c.2009G>C (p.Cys670Ser) c.1979G>C (p.Cys660Ser) c.1496G>C (p.Cys499Ser) c.1391G>C (p.Cys464Ser) | |
| 3 | g.122283933G>T | CA354158226 | CASR | c.1748G>T (p.Cys583Phe) c.2009G>T (p.Cys670Phe) c.1979G>T (p.Cys660Phe) c.1496G>T (p.Cys499Phe) c.1391G>T (p.Cys464Phe) | |
| 3 | g.122283934C>A | CA354158227 | CASR | c.1749C>A (p.Cys583Ter) c.2010C>A (p.Cys670Ter) c.1980C>A (p.Cys660Ter) c.1497C>A (p.Cys499Ter) c.1392C>A (p.Cys464Ter) | |
| 3 | g.122283934C= | CA1397871312 | CASR | c.1749C= (p.Cys583=) c.2010C= (p.Cys670=) c.1980C= (p.Cys660=) c.1497C= (p.Cys499=) c.1392C= (p.Cys464=) | |
| 3 | g.122283934C>G | CA354158228 | CASR | c.1749C>G (p.Cys583Trp) c.2010C>G (p.Cys670Trp) c.1980C>G (p.Cys660Trp) c.1497C>G (p.Cys499Trp) c.1392C>G (p.Cys464Trp) | |
| 3 | g.122283934C>T | CA435424863 | CASR | c.1749C>T (p.Cys583=) c.2010C>T (p.Cys670=) c.1980C>T (p.Cys660=) c.1497C>T (p.Cys499=) c.1392C>T (p.Cys464=) | ClinVar dbSNP |
| 3 | g.122283935T>A | CA354158229 | CASR | c.1750T>A (p.Cys584Ser) c.2011T>A (p.Cys671Ser) c.1981T>A (p.Cys661Ser) c.1498T>A (p.Cys500Ser) c.1393T>A (p.Cys465Ser) | ClinVar dbSNP |
| 3 | g.122283935T>C | CA354158230 | CASR | c.1750T>C (p.Cys584Arg) c.2011T>C (p.Cys671Arg) c.1981T>C (p.Cys661Arg) c.1498T>C (p.Cys500Arg) c.1393T>C (p.Cys465Arg) | |
| 3 | g.122283935T>G | CA354158231 | CASR | c.1750T>G (p.Cys584Gly) c.2011T>G (p.Cys671Gly) c.1981T>G (p.Cys661Gly) c.1498T>G (p.Cys500Gly) c.1393T>G (p.Cys465Gly) | |
| 3 | g.122283936G>A | CA354158232 | CASR | c.1751G>A (p.Cys584Tyr) c.2012G>A (p.Cys671Tyr) c.1982G>A (p.Cys661Tyr) c.1499G>A (p.Cys500Tyr) c.1394G>A (p.Cys465Tyr) | |
| 3 | g.122283936G>C | CA354158233 | CASR | c.1751G>C (p.Cys584Ser) c.2012G>C (p.Cys671Ser) c.1982G>C (p.Cys661Ser) c.1499G>C (p.Cys500Ser) c.1394G>C (p.Cys465Ser) | |
| 3 | g.122283936G>T | CA354158234 | CASR | c.1751G>T (p.Cys584Phe) c.2012G>T (p.Cys671Phe) c.1982G>T (p.Cys661Phe) c.1499G>T (p.Cys500Phe) c.1394G>T (p.Cys465Phe) | |
| 3 | g.122283937C>A | CA354158235 | CASR | c.1752C>A (p.Cys584Ter) c.2013C>A (p.Cys671Ter) c.1983C>A (p.Cys661Ter) c.1500C>A (p.Cys500Ter) c.1395C>A (p.Cys465Ter) | ClinVar dbSNP |
| 3 | g.122283937C= | CA1397871315 | CASR | c.1752C= (p.Cys584=) c.2013C= (p.Cys671=) c.1983C= (p.Cys661=) c.1500C= (p.Cys500=) c.1395C= (p.Cys465=) | |
| 3 | g.122283937C>G | CA354158236 | CASR | c.1752C>G (p.Cys584Trp) c.2013C>G (p.Cys671Trp) c.1983C>G (p.Cys661Trp) c.1500C>G (p.Cys500Trp) c.1395C>G (p.Cys465Trp) | |
| 3 | g.122283937C>T | CA435424869 | CASR | c.1752C>T (p.Cys584=) c.2013C>T (p.Cys671=) c.1983C>T (p.Cys661=) c.1500C>T (p.Cys500=) c.1395C>T (p.Cys465=) | gnomAD v4 |
| 3 | g.122283938T>A | CA354158237 | CASR | c.1753T>A (p.Phe585Ile) c.2014T>A (p.Phe672Ile) c.1984T>A (p.Phe662Ile) c.1501T>A (p.Phe501Ile) c.1396T>A (p.Phe466Ile) | |
| 3 | g.122283938T>C | CA82748682 | CASR | c.1753T>C (p.Phe585Leu) c.2014T>C (p.Phe672Leu) c.1984T>C (p.Phe662Leu) c.1501T>C (p.Phe501Leu) c.1396T>C (p.Phe466Leu) | dbSNP |
| 3 | g.122283938T>G | CA354158238 | CASR | c.1753T>G (p.Phe585Val) c.2014T>G (p.Phe672Val) c.1984T>G (p.Phe662Val) c.1501T>G (p.Phe501Val) c.1396T>G (p.Phe466Val) | ClinVar |
| 3 | g.122283938T= | CA1397871320 | CASR | c.1753T= (p.Phe585=) c.2014T= (p.Phe672=) c.1984T= (p.Phe662=) c.1501T= (p.Phe501=) c.1396T= (p.Phe466=) | |
| 3 | g.122283939T>A | CA354158239 | CASR | c.1754T>A (p.Phe585Tyr) c.2015T>A (p.Phe672Tyr) c.1985T>A (p.Phe662Tyr) c.1502T>A (p.Phe501Tyr) c.1397T>A (p.Phe466Tyr) | |
| 3 | g.122283939T>C | CA354158241 | CASR | c.1754T>C (p.Phe585Ser) c.2015T>C (p.Phe672Ser) c.1985T>C (p.Phe662Ser) c.1502T>C (p.Phe501Ser) c.1397T>C (p.Phe466Ser) | |
| 3 | g.122283939T>G | CA354158240 | CASR | c.1754T>G (p.Phe585Cys) c.2015T>G (p.Phe672Cys) c.1985T>G (p.Phe662Cys) c.1502T>G (p.Phe501Cys) c.1397T>G (p.Phe466Cys) | |
| 3 | g.122283940C>A | CA354158242 | CASR | c.1755C>A (p.Phe585Leu) c.2016C>A (p.Phe672Leu) c.1986C>A (p.Phe662Leu) c.1503C>A (p.Phe501Leu) c.1398C>A (p.Phe466Leu) | |
| 3 | g.122283940C>G | CA354158243 | CASR | c.1755C>G (p.Phe585Leu) c.2016C>G (p.Phe672Leu) c.1986C>G (p.Phe662Leu) c.1503C>G (p.Phe501Leu) c.1398C>G (p.Phe466Leu) | |
| 3 | g.122283940C>T | CA435424874 | CASR | c.1755C>T (p.Phe585=) c.2016C>T (p.Phe672=) c.1986C>T (p.Phe662=) c.1503C>T (p.Phe501=) c.1398C>T (p.Phe466=) | ClinVar |
| 3 | g.122283941T>A | CA354158244 | CASR | c.1756T>A (p.Ser586Thr) c.2017T>A (p.Ser673Thr) c.1987T>A (p.Ser663Thr) c.1504T>A (p.Ser502Thr) c.1399T>A (p.Ser467Thr) | ClinVar dbSNP |
| 3 | g.122283941T>C | CA354158245 | CASR | c.1756T>C (p.Ser586Pro) c.2017T>C (p.Ser673Pro) c.1987T>C (p.Ser663Pro) c.1504T>C (p.Ser502Pro) c.1399T>C (p.Ser467Pro) | |
| 3 | g.122283941T>G | CA354158246 | CASR | c.1756T>G (p.Ser586Ala) c.2017T>G (p.Ser673Ala) c.1987T>G (p.Ser663Ala) c.1504T>G (p.Ser502Ala) c.1399T>G (p.Ser467Ala) | ClinVar |
| 3 | g.122283941T= | CA1397871324 | CASR | c.1756T= (p.Ser586=) c.2017T= (p.Ser673=) c.1987T= (p.Ser663=) c.1504T= (p.Ser502=) c.1399T= (p.Ser467=) | |
| 3 | g.122283942C>A | CA354158247 | CASR | c.1757C>A (p.Ser586Tyr) c.2018C>A (p.Ser673Tyr) c.1988C>A (p.Ser663Tyr) c.1505C>A (p.Ser502Tyr) c.1400C>A (p.Ser467Tyr) | dbSNP |
| 3 | g.122283942C= | CA1397871327 | CASR | c.1757C= (p.Ser586=) c.2018C= (p.Ser673=) c.1988C= (p.Ser663=) c.1505C= (p.Ser502=) c.1400C= (p.Ser467=) | |
| 3 | g.122283942C>G | CA354158248 | CASR | c.1757C>G (p.Ser586Cys) c.2018C>G (p.Ser673Cys) c.1988C>G (p.Ser663Cys) c.1505C>G (p.Ser502Cys) c.1400C>G (p.Ser467Cys) | |
| 3 | g.122283942C>T | CA354158249 | CASR | c.1757C>T (p.Ser586Phe) c.2018C>T (p.Ser673Phe) c.1988C>T (p.Ser663Phe) c.1505C>T (p.Ser502Phe) c.1400C>T (p.Ser467Phe) | |
| 3 | g.122283943C>A | CA435424882 | CASR | c.1758C>A (p.Ser586=) c.2019C>A (p.Ser673=) c.1989C>A (p.Ser663=) c.1506C>A (p.Ser502=) c.1401C>A (p.Ser467=) | |
| 3 | g.122283943C>G | CA435424884 | CASR | c.1758C>G (p.Ser586=) c.2019C>G (p.Ser673=) c.1989C>G (p.Ser663=) c.1506C>G (p.Ser502=) c.1401C>G (p.Ser467=) | |
| 3 | g.122283943C>T | CA435424883 | CASR | c.1758C>T (p.Ser586=) c.2019C>T (p.Ser673=) c.1989C>T (p.Ser663=) c.1506C>T (p.Ser502=) c.1401C>T (p.Ser467=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283944A>C | CA354158250 | CASR | c.1759A>C (p.Ser587Arg) c.2020A>C (p.Ser674Arg) c.1990A>C (p.Ser664Arg) c.1507A>C (p.Ser503Arg) c.1402A>C (p.Ser468Arg) | |
| 3 | g.122283944A>G | CA354158251 | CASR | c.1759A>G (p.Ser587Gly) c.2020A>G (p.Ser674Gly) c.1990A>G (p.Ser664Gly) c.1507A>G (p.Ser503Gly) c.1402A>G (p.Ser468Gly) | |
| 3 | g.122283944A>T | CA354158252 | CASR | c.1759A>T (p.Ser587Cys) c.2020A>T (p.Ser674Cys) c.1990A>T (p.Ser664Cys) c.1507A>T (p.Ser503Cys) c.1402A>T (p.Ser468Cys) | |
| 3 | g.122283945G>A | CA354158253 | CASR | c.1760G>A (p.Ser587Asn) c.2021G>A (p.Ser674Asn) c.1991G>A (p.Ser664Asn) c.1508G>A (p.Ser503Asn) c.1403G>A (p.Ser468Asn) | |
| 3 | g.122283945G>C | CA354158254 | CASR | c.1760G>C (p.Ser587Thr) c.2021G>C (p.Ser674Thr) c.1991G>C (p.Ser664Thr) c.1508G>C (p.Ser503Thr) c.1403G>C (p.Ser468Thr) | |
| 3 | g.122283945G>T | CA354158255 | CASR | c.1760G>T (p.Ser587Ile) c.2021G>T (p.Ser674Ile) c.1991G>T (p.Ser664Ile) c.1508G>T (p.Ser503Ile) c.1403G>T (p.Ser468Ile) | |
| 3 | g.122283946C>A | CA354158257 | CASR | c.1761C>A (p.Ser587Arg) c.2022C>A (p.Ser674Arg) c.1992C>A (p.Ser664Arg) c.1509C>A (p.Ser503Arg) c.1404C>A (p.Ser468Arg) | gnomAD v4 |
| 3 | g.122283946C>G | CA354158256 | CASR | c.1761C>G (p.Ser587Arg) c.2022C>G (p.Ser674Arg) c.1992C>G (p.Ser664Arg) c.1509C>G (p.Ser503Arg) c.1404C>G (p.Ser468Arg) | |
| 3 | g.122283946C>T | CA435424885 | CASR | c.1761C>T (p.Ser587=) c.2022C>T (p.Ser674=) c.1992C>T (p.Ser664=) c.1509C>T (p.Ser503=) c.1404C>T (p.Ser468=) | |
| 3 | g.122283947T>A | CA354158258 | CASR | c.1762T>A (p.Ser588Thr) c.2023T>A (p.Ser675Thr) c.1993T>A (p.Ser665Thr) c.1510T>A (p.Ser504Thr) c.1405T>A (p.Ser469Thr) | |
| 3 | g.122283947T>C | CA354158259 | CASR | c.1762T>C (p.Ser588Pro) c.2023T>C (p.Ser675Pro) c.1993T>C (p.Ser665Pro) c.1510T>C (p.Ser504Pro) c.1405T>C (p.Ser469Pro) | |
| 3 | g.122283947T>G | CA354158260 | CASR | c.1762T>G (p.Ser588Ala) c.2023T>G (p.Ser675Ala) c.1993T>G (p.Ser665Ala) c.1510T>G (p.Ser504Ala) c.1405T>G (p.Ser469Ala) | |
| 3 | g.122283948C>A | CA354158261 | CASR | c.1763C>A (p.Ser588Tyr) c.2024C>A (p.Ser675Tyr) c.1994C>A (p.Ser665Tyr) c.1511C>A (p.Ser504Tyr) c.1406C>A (p.Ser469Tyr) | |
| 3 | g.122283948C>G | CA354158262 | CASR | c.1763C>G (p.Ser588Cys) c.2024C>G (p.Ser675Cys) c.1994C>G (p.Ser665Cys) c.1511C>G (p.Ser504Cys) c.1406C>G (p.Ser469Cys) | gnomAD v4 |
| 3 | g.122283948C>T | CA354158263 | CASR | c.1763C>T (p.Ser588Phe) c.2024C>T (p.Ser675Phe) c.1994C>T (p.Ser665Phe) c.1511C>T (p.Ser504Phe) c.1406C>T (p.Ser469Phe) | COSMIC |
| 3 | g.122283949C>A | CA435424890 | CASR | c.1764C>A (p.Ser588=) c.2025C>A (p.Ser675=) c.1995C>A (p.Ser665=) c.1512C>A (p.Ser504=) c.1407C>A (p.Ser469=) | ClinVar |
| 3 | g.122283949C>G | CA435424893 | CASR | c.1764C>G (p.Ser588=) c.2025C>G (p.Ser675=) c.1995C>G (p.Ser665=) c.1512C>G (p.Ser504=) c.1407C>G (p.Ser469=) | |
| 3 | g.122283949C>T | CA435424894 | CASR | c.1764C>T (p.Ser588=) c.2025C>T (p.Ser675=) c.1995C>T (p.Ser665=) c.1512C>T (p.Ser504=) c.1407C>T (p.Ser469=) | gnomAD v4 |
| 3 | g.122283950C>A | CA354158264 | CASR | c.1765C>A (p.Leu589Met) c.2026C>A (p.Leu676Met) c.1996C>A (p.Leu666Met) c.1513C>A (p.Leu505Met) c.1408C>A (p.Leu470Met) | |
| 3 | g.122283950C>G | CA354158265 | CASR | c.1765C>G (p.Leu589Val) c.2026C>G (p.Leu676Val) c.1996C>G (p.Leu666Val) c.1513C>G (p.Leu505Val) c.1408C>G (p.Leu470Val) | |
| 3 | g.122283950C>T | CA435424897 | CASR | c.1765C>T (p.Leu589=) c.2026C>T (p.Leu676=) c.1996C>T (p.Leu666=) c.1513C>T (p.Leu505=) c.1408C>T (p.Leu470=) | |
| 3 | g.122283951T>A | CA354158266 | CASR | c.1766T>A (p.Leu589Gln) c.2027T>A (p.Leu676Gln) c.1997T>A (p.Leu666Gln) c.1514T>A (p.Leu505Gln) c.1409T>A (p.Leu470Gln) | |
| 3 | g.122283951T>C | CA354158267 | CASR | c.1766T>C (p.Leu589Pro) c.2027T>C (p.Leu676Pro) c.1997T>C (p.Leu666Pro) c.1514T>C (p.Leu505Pro) c.1409T>C (p.Leu470Pro) | ClinVar dbSNP |
| 3 | g.122283951T>G | CA354158268 | CASR | c.1766T>G (p.Leu589Arg) c.2027T>G (p.Leu676Arg) c.1997T>G (p.Leu666Arg) c.1514T>G (p.Leu505Arg) c.1409T>G (p.Leu470Arg) | |
| 3 | g.122283951dup | CA2586972863 | CASR | c.1766dup (p.Phe590ValfsTer?) c.2027dup (p.Phe677ValfsTer?) c.1997dup (p.Phe667ValfsTer?) c.1514dup (p.Phe506ValfsTer?) c.1409dup (p.Phe471ValfsTer?) | |
| 3 | g.122283952G>A | CA435424903 | CASR | c.1767G>A (p.Leu589=) c.2028G>A (p.Leu676=) c.1998G>A (p.Leu666=) c.1515G>A (p.Leu505=) c.1410G>A (p.Leu470=) | dbSNP |
| 3 | g.122283952G>C | CA435424904 | CASR | c.1767G>C (p.Leu589=) c.2028G>C (p.Leu676=) c.1998G>C (p.Leu666=) c.1515G>C (p.Leu505=) c.1410G>C (p.Leu470=) | ClinVar |
| 3 | g.122283952G= | CA1397871328 | CASR | c.1767G= (p.Leu589=) c.2028G= (p.Leu676=) c.1998G= (p.Leu666=) c.1515G= (p.Leu505=) c.1410G= (p.Leu470=) | |
| 3 | g.122283952G>T | CA435424905 | CASR | c.1767G>T (p.Leu589=) c.2028G>T (p.Leu676=) c.1998G>T (p.Leu666=) c.1515G>T (p.Leu505=) c.1410G>T (p.Leu470=) | |
| 3 | g.122283952_122283955delinsGTTC | CA1397871329 | CASR | c.1767_1770delinsGTTC (p.Leu589=) c.2028_2031delinsGTTC (p.Leu676=) c.1998_2001delinsGTTC (p.Leu666=) c.1515_1518delinsGTTC (p.Leu505=) c.1410_1413delinsGTTC (p.Leu470=) | |
| 3 | g.122283953T>A | CA354158271 | CASR | c.1768T>A (p.Phe590Ile) c.2029T>A (p.Phe677Ile) c.1999T>A (p.Phe667Ile) c.1516T>A (p.Phe506Ile) c.1411T>A (p.Phe471Ile) | |
| 3 | g.122283953T>C | CA354158270 | CASR | c.1768T>C (p.Phe590Leu) c.2029T>C (p.Phe677Leu) c.1999T>C (p.Phe667Leu) c.1516T>C (p.Phe506Leu) c.1411T>C (p.Phe471Leu) | ClinVar dbSNP |
| 3 | g.122283953T>G | CA354158269 | CASR | c.1768T>G (p.Phe590Val) c.2029T>G (p.Phe677Val) c.1999T>G (p.Phe667Val) c.1516T>G (p.Phe506Val) c.1411T>G (p.Phe471Val) | |
| 3 | g.122283953T= | CA1397871335 | CASR | c.1768T= (p.Phe590=) c.2029T= (p.Phe677=) c.1999T= (p.Phe667=) c.1516T= (p.Phe506=) c.1411T= (p.Phe471=) | |
| 3 | g.122283956_122283958del | CA1397871333 | CASR | c.1771_1773del (p.Phe591del) c.2032_2034del (p.Phe678del) c.2002_2004del (p.Phe668del) c.1519_1521del (p.Phe507del) c.1414_1416del (p.Phe472del) | ClinVar dbSNP |
| 3 | g.122283954T>A | CA354158272 | CASR | c.1769T>A (p.Phe590Tyr) c.2030T>A (p.Phe677Tyr) c.2000T>A (p.Phe667Tyr) c.1517T>A (p.Phe506Tyr) c.1412T>A (p.Phe471Tyr) | |
| 3 | g.122283954T>C | CA354158273 | CASR | c.1769T>C (p.Phe590Ser) c.2030T>C (p.Phe677Ser) c.2000T>C (p.Phe667Ser) c.1517T>C (p.Phe506Ser) c.1412T>C (p.Phe471Ser) | ClinVar dbSNP |
| 3 | g.122283954T>G | CA354158274 | CASR | c.1769T>G (p.Phe590Cys) c.2030T>G (p.Phe677Cys) c.2000T>G (p.Phe667Cys) c.1517T>G (p.Phe506Cys) c.1412T>G (p.Phe471Cys) | |
| 3 | g.122283954T= | CA1397871337 | CASR | c.1769T= (p.Phe590=) c.2030T= (p.Phe677=) c.2000T= (p.Phe667=) c.1517T= (p.Phe506=) c.1412T= (p.Phe471=) | |
| 3 | g.122283955C>A | CA354158275 | CASR | c.1770C>A (p.Phe590Leu) c.2031C>A (p.Phe677Leu) c.2001C>A (p.Phe667Leu) c.1518C>A (p.Phe506Leu) c.1413C>A (p.Phe471Leu) | |
| 3 | g.122283955C>G | CA354158276 | CASR | c.1770C>G (p.Phe590Leu) c.2031C>G (p.Phe677Leu) c.2001C>G (p.Phe667Leu) c.1518C>G (p.Phe506Leu) c.1413C>G (p.Phe471Leu) | |
| 3 | g.122283955C>T | CA435424910 | CASR | c.1770C>T (p.Phe590=) c.2031C>T (p.Phe677=) c.2001C>T (p.Phe667=) c.1518C>T (p.Phe506=) c.1413C>T (p.Phe471=) | |
| 3 | g.122283956T>A | CA354158277 | CASR | c.1771T>A (p.Phe591Ile) c.2032T>A (p.Phe678Ile) c.2002T>A (p.Phe668Ile) c.1519T>A (p.Phe507Ile) c.1414T>A (p.Phe472Ile) | |
| 3 | g.122283956T>C | CA354158278 | CASR | c.1771T>C (p.Phe591Leu) c.2032T>C (p.Phe678Leu) c.2002T>C (p.Phe668Leu) c.1519T>C (p.Phe507Leu) c.1414T>C (p.Phe472Leu) | |
| 3 | g.122283956T>G | CA354158279 | CASR | c.1771T>G (p.Phe591Val) c.2032T>G (p.Phe678Val) c.2002T>G (p.Phe668Val) c.1519T>G (p.Phe507Val) c.1414T>G (p.Phe472Val) | |
| 3 | g.122283957T>A | CA354158280 | CASR | c.1772T>A (p.Phe591Tyr) c.2033T>A (p.Phe678Tyr) c.2003T>A (p.Phe668Tyr) c.1520T>A (p.Phe507Tyr) c.1415T>A (p.Phe472Tyr) | |
| 3 | g.122283957T>C | CA354158281 | CASR | c.1772T>C (p.Phe591Ser) c.2033T>C (p.Phe678Ser) c.2003T>C (p.Phe668Ser) c.1520T>C (p.Phe507Ser) c.1415T>C (p.Phe472Ser) | |
| 3 | g.122283957T>G | CA354158282 | CASR | c.1772T>G (p.Phe591Cys) c.2033T>G (p.Phe678Cys) c.2003T>G (p.Phe668Cys) c.1520T>G (p.Phe507Cys) c.1415T>G (p.Phe472Cys) | |
| 3 | g.122283958C>A | CA354158283 | CASR | c.1773C>A (p.Phe591Leu) c.2034C>A (p.Phe678Leu) c.2004C>A (p.Phe668Leu) c.1521C>A (p.Phe507Leu) c.1416C>A (p.Phe472Leu) | |
| 3 | g.122283958C>G | CA354158284 | CASR | c.1773C>G (p.Phe591Leu) c.2034C>G (p.Phe678Leu) c.2004C>G (p.Phe668Leu) c.1521C>G (p.Phe507Leu) c.1416C>G (p.Phe472Leu) | |
| 3 | g.122283958C>T | CA435424916 | CASR | c.1773C>T (p.Phe591=) c.2034C>T (p.Phe678=) c.2004C>T (p.Phe668=) c.1521C>T (p.Phe507=) c.1416C>T (p.Phe472=) | ClinVar dbSNP |
| 3 | g.122283959A= | CA1397871340 | CASR | c.1774A= (p.Ile592=) c.2035A= (p.Ile679=) c.2005A= (p.Ile669=) c.1522A= (p.Ile508=) c.1417A= (p.Ile473=) | |
| 3 | g.122283959A>C | CA354158285 | CASR | c.1774A>C (p.Ile592Leu) c.2035A>C (p.Ile679Leu) c.2005A>C (p.Ile669Leu) c.1522A>C (p.Ile508Leu) c.1417A>C (p.Ile473Leu) | ClinVar dbSNP |
| 3 | g.122283959A>G | CA354158287 | CASR | c.1774A>G (p.Ile592Val) c.2035A>G (p.Ile679Val) c.2005A>G (p.Ile669Val) c.1522A>G (p.Ile508Val) c.1417A>G (p.Ile473Val) | ClinVar dbSNP |
| 3 | g.122283959A>T | CA354158286 | CASR | c.1774A>T (p.Ile592Phe) c.2035A>T (p.Ile679Phe) c.2005A>T (p.Ile669Phe) c.1522A>T (p.Ile508Phe) c.1417A>T (p.Ile473Phe) | |
| 3 | g.122283960T>A | CA354158288 | CASR | c.1775T>A (p.Ile592Asn) c.2036T>A (p.Ile679Asn) c.2006T>A (p.Ile669Asn) c.1523T>A (p.Ile508Asn) c.1418T>A (p.Ile473Asn) | |
| 3 | g.122283960T>C | CA354158289 | CASR | c.1775T>C (p.Ile592Thr) c.2036T>C (p.Ile679Thr) c.2006T>C (p.Ile669Thr) c.1523T>C (p.Ile508Thr) c.1418T>C (p.Ile473Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283960T>G | CA354158290 | CASR | c.1775T>G (p.Ile592Ser) c.2036T>G (p.Ile679Ser) c.2006T>G (p.Ile669Ser) c.1523T>G (p.Ile508Ser) c.1418T>G (p.Ile473Ser) | |
| 3 | g.122283961C>A | CA435424922 | CASR | c.1776C>A (p.Ile592=) c.2037C>A (p.Ile679=) c.2007C>A (p.Ile669=) c.1524C>A (p.Ile508=) c.1419C>A (p.Ile473=) | |
| 3 | g.122283961C= | CA1397871346 | CASR | c.1776C= (p.Ile592=) c.2037C= (p.Ile679=) c.2007C= (p.Ile669=) c.1524C= (p.Ile508=) c.1419C= (p.Ile473=) | |
| 3 | g.122283961C>G | CA354158291 | CASR | c.1776C>G (p.Ile592Met) c.2037C>G (p.Ile679Met) c.2007C>G (p.Ile669Met) c.1524C>G (p.Ile508Met) c.1419C>G (p.Ile473Met) | |
| 3 | g.122283961C>T | CA82748684 | CASR | c.1776C>T (p.Ile592=) c.2037C>T (p.Ile679=) c.2007C>T (p.Ile669=) c.1524C>T (p.Ile508=) c.1419C>T (p.Ile473=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122283961_122283963delinsCGG | CA1397871349 | CASR | c.1776_1778delinsCGG (p.Ile592=) c.2037_2039delinsCGG (p.Ile679=) c.2007_2009delinsCGG (p.Ile669=) c.1524_1526delinsCGG (p.Ile508=) c.1419_1421delinsCGG (p.Ile473=) | |
| 3 | g.122283962G>A | CA354158292 | CASR | c.1777G>A (p.Gly593Arg) c.2038G>A (p.Gly680Arg) c.2008G>A (p.Gly670Arg) c.1525G>A (p.Gly509Arg) c.1420G>A (p.Gly474Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283962G>C | CA354158293 | CASR | c.1777G>C (p.Gly593Arg) c.2038G>C (p.Gly680Arg) c.2008G>C (p.Gly670Arg) c.1525G>C (p.Gly509Arg) c.1420G>C (p.Gly474Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283962G= | CA1397871355 | CASR | c.1777G= (p.Gly593=) c.2038G= (p.Gly680=) c.2008G= (p.Gly670=) c.1525G= (p.Gly509=) c.1420G= (p.Gly474=) | |
| 3 | g.122283962G>T | CA354158294 | CASR | c.1777G>T (p.Gly593Trp) c.2038G>T (p.Gly680Trp) c.2008G>T (p.Gly670Trp) c.1525G>T (p.Gly509Trp) c.1420G>T (p.Gly474Trp) | dbSNP gnomAD v4 COSMIC |
| 3 | g.122283965del | CA2667224149 | CASR | c.1780del (p.Glu594SerfsTer27) c.2041del (p.Glu681SerfsTer27) c.2011del (p.Glu671SerfsTer27) c.1528del (p.Glu510SerfsTer27) c.1423del (p.Glu475SerfsTer27) | gnomAD v4 |
| 3 | g.122283964_122283965del | CA1139658227 | CASR | c.1779_1780del (p.Glu594AlafsTer?) c.2040_2041del (p.Glu681AlafsTer?) c.2010_2011del (p.Glu671AlafsTer?) c.1527_1528del (p.Glu510AlafsTer?) c.1422_1423del (p.Glu475AlafsTer?) | ClinVar dbSNP |
| 3 | g.122283963G>A | CA119497 | CASR | c.1778G>A (p.Gly593Glu) c.2039G>A (p.Gly680Glu) c.2009G>A (p.Gly670Glu) c.1526G>A (p.Gly509Glu) c.1421G>A (p.Gly474Glu) | ClinVar dbSNP |
| 3 | g.122283963G>C | CA354158295 | CASR | c.1778G>C (p.Gly593Ala) c.2039G>C (p.Gly680Ala) c.2009G>C (p.Gly670Ala) c.1526G>C (p.Gly509Ala) c.1421G>C (p.Gly474Ala) | |
| 3 | g.122283963G= | CA1397871358 | CASR | c.1778G= (p.Gly593=) c.2039G= (p.Gly680=) c.2009G= (p.Gly670=) c.1526G= (p.Gly509=) c.1421G= (p.Gly474=) | |
| 3 | g.122283963G>T | CA354158296 | CASR | c.1778G>T (p.Gly593Val) c.2039G>T (p.Gly680Val) c.2009G>T (p.Gly670Val) c.1526G>T (p.Gly509Val) c.1421G>T (p.Gly474Val) | ClinVar dbSNP |
| 3 | g.122283965_122283974del | CA2586972864 | CASR | c.1780_1789del (p.Glu594ThrfsTer24) c.2041_2050del (p.Glu681ThrfsTer24) c.2011_2020del (p.Glu671ThrfsTer24) c.1528_1537del (p.Glu510ThrfsTer24) c.1423_1432del (p.Glu475ThrfsTer24) | |
| 3 | g.122283964G>A | CA435424931 | CASR | c.1779G>A (p.Gly593=) c.2040G>A (p.Gly680=) c.2010G>A (p.Gly670=) c.1527G>A (p.Gly509=) c.1422G>A (p.Gly474=) | ClinVar |
| 3 | g.122283964G>C | CA435424932 | CASR | c.1779G>C (p.Gly593=) c.2040G>C (p.Gly680=) c.2010G>C (p.Gly670=) c.1527G>C (p.Gly509=) c.1422G>C (p.Gly474=) | |
| 3 | g.122283964G>T | CA435424933 | CASR | c.1779G>T (p.Gly593=) c.2040G>T (p.Gly680=) c.2010G>T (p.Gly670=) c.1527G>T (p.Gly509=) c.1422G>T (p.Gly474=) | |
| 3 | g.122283965G>A | CA354158298 | CASR | c.1780G>A (p.Glu594Lys) c.2041G>A (p.Glu681Lys) c.2011G>A (p.Glu671Lys) c.1528G>A (p.Glu510Lys) c.1423G>A (p.Glu475Lys) | gnomAD v4 COSMIC |
| 3 | g.122283965G>C | CA354158299 | CASR | c.1780G>C (p.Glu594Gln) c.2041G>C (p.Glu681Gln) c.2011G>C (p.Glu671Gln) c.1528G>C (p.Glu510Gln) c.1423G>C (p.Glu475Gln) | |
| 3 | g.122283965G>T | CA354158297 | CASR | c.1780G>T (p.Glu594Ter) c.2041G>T (p.Glu681Ter) c.2011G>T (p.Glu671Ter) c.1528G>T (p.Glu510Ter) c.1423G>T (p.Glu475Ter) | gnomAD v4 |
| 3 | g.122283966A= | CA1397871362 | CASR | c.1781A= (p.Glu594=) c.2042A= (p.Glu681=) c.2012A= (p.Glu671=) c.1529A= (p.Glu510=) c.1424A= (p.Glu475=) | |
| 3 | g.122283966A>C | CA354158301 | CASR | c.1781A>C (p.Glu594Ala) c.2042A>C (p.Glu681Ala) c.2012A>C (p.Glu671Ala) c.1529A>C (p.Glu510Ala) c.1424A>C (p.Glu475Ala) | |
| 3 | g.122283966A>G | CA354158300 | CASR | c.1781A>G (p.Glu594Gly) c.2042A>G (p.Glu681Gly) c.2012A>G (p.Glu671Gly) c.1529A>G (p.Glu510Gly) c.1424A>G (p.Glu475Gly) | gnomAD v4 |
| 3 | g.122283966A>T | CA2569767 | CASR | c.1781A>T (p.Glu594Val) c.2042A>T (p.Glu681Val) c.2012A>T (p.Glu671Val) c.1529A>T (p.Glu510Val) c.1424A>T (p.Glu475Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283967G>A | CA435424940 | CASR | c.1782G>A (p.Glu594=) c.2043G>A (p.Glu681=) c.2013G>A (p.Glu671=) c.1530G>A (p.Glu510=) c.1425G>A (p.Glu475=) | |
| 3 | g.122283967G>C | CA354158302 | CASR | c.1782G>C (p.Glu594Asp) c.2043G>C (p.Glu681Asp) c.2013G>C (p.Glu671Asp) c.1530G>C (p.Glu510Asp) c.1425G>C (p.Glu475Asp) | |
| 3 | g.122283967G>T | CA354158303 | CASR | c.1782G>T (p.Glu594Asp) c.2043G>T (p.Glu681Asp) c.2013G>T (p.Glu671Asp) c.1530G>T (p.Glu510Asp) c.1425G>T (p.Glu475Asp) | |
| 3 | g.122283968_122283979del | CA2573052061 | CASR | c.1783_1794del (p.Pro595_Trp598del) c.2044_2055del (p.Pro682_Trp685del) c.2014_2025del (p.Pro672_Trp675del) c.1531_1542del (p.Pro511_Trp514del) c.1426_1437del (p.Pro476_Trp479del) | ClinVar dbSNP |
| 3 | g.122283968C>A | CA213577 | CASR | c.1783C>A (p.Pro595Thr) c.2044C>A (p.Pro682Thr) c.2014C>A (p.Pro672Thr) c.1531C>A (p.Pro511Thr) c.1426C>A (p.Pro476Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122283968C= | CA1397871368 | CASR | c.1783C= (p.Pro595=) c.2044C= (p.Pro682=) c.2014C= (p.Pro672=) c.1531C= (p.Pro511=) c.1426C= (p.Pro476=) | |
| 3 | g.122283968C>G | CA354158304 | CASR | c.1783C>G (p.Pro595Ala) c.2044C>G (p.Pro682Ala) c.2014C>G (p.Pro672Ala) c.1531C>G (p.Pro511Ala) c.1426C>G (p.Pro476Ala) | |
| 3 | g.122283968C>T | CA354158305 | CASR | c.1783C>T (p.Pro595Ser) c.2044C>T (p.Pro682Ser) c.2014C>T (p.Pro672Ser) c.1531C>T (p.Pro511Ser) c.1426C>T (p.Pro476Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283969C>A | CA354158306 | CASR | c.1784C>A (p.Pro595His) c.2045C>A (p.Pro682His) c.2015C>A (p.Pro672His) c.1532C>A (p.Pro511His) c.1427C>A (p.Pro476His) | |
| 3 | g.122283969C>G | CA354158308 | CASR | c.1784C>G (p.Pro595Arg) c.2045C>G (p.Pro682Arg) c.2015C>G (p.Pro672Arg) c.1532C>G (p.Pro511Arg) c.1427C>G (p.Pro476Arg) | ClinVar dbSNP |
| 3 | g.122283969C>T | CA354158307 | CASR | c.1784C>T (p.Pro595Leu) c.2045C>T (p.Pro682Leu) c.2015C>T (p.Pro672Leu) c.1532C>T (p.Pro511Leu) c.1427C>T (p.Pro476Leu) | ClinVar |
| 3 | g.122283970C>A | CA435424947 | CASR | c.1785C>A (p.Pro595=) c.2046C>A (p.Pro682=) c.2016C>A (p.Pro672=) c.1533C>A (p.Pro511=) c.1428C>A (p.Pro476=) | |
| 3 | g.122283970C= | CA1397871375 | CASR | c.1785C= (p.Pro595=) c.2046C= (p.Pro682=) c.2016C= (p.Pro672=) c.1533C= (p.Pro511=) c.1428C= (p.Pro476=) | |
| 3 | g.122283970C>G | CA2569768 | CASR | c.1785C>G (p.Pro595=) c.2046C>G (p.Pro682=) c.2016C>G (p.Pro672=) c.1533C>G (p.Pro511=) c.1428C>G (p.Pro476=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283970C>T | CA435424948 | CASR | c.1785C>T (p.Pro595=) c.2046C>T (p.Pro682=) c.2016C>T (p.Pro672=) c.1533C>T (p.Pro511=) c.1428C>T (p.Pro476=) |