| 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.122283863T>A | CA354157935 | CASR | c.1678T>A (p.Phe560Ile) c.1939T>A (p.Phe647Ile) c.1909T>A (p.Phe637Ile) c.1426T>A (p.Phe476Ile) c.1321T>A (p.Phe441Ile) | |
| 3 | g.122283863T>C | CA354157937 | CASR | c.1678T>C (p.Phe560Leu) c.1939T>C (p.Phe647Leu) c.1909T>C (p.Phe637Leu) c.1426T>C (p.Phe476Leu) c.1321T>C (p.Phe441Leu) | |
| 3 | g.122283863T>G | CA354157938 | CASR | c.1678T>G (p.Phe560Val) c.1939T>G (p.Phe647Val) c.1909T>G (p.Phe637Val) c.1426T>G (p.Phe476Val) c.1321T>G (p.Phe441Val) | |
| 3 | g.122283864T>A | CA354157940 | CASR | c.1679T>A (p.Phe560Tyr) c.1940T>A (p.Phe647Tyr) c.1910T>A (p.Phe637Tyr) c.1427T>A (p.Phe476Tyr) c.1322T>A (p.Phe441Tyr) | |
| 3 | g.122283864T>C | CA354157941 | CASR | c.1679T>C (p.Phe560Ser) c.1940T>C (p.Phe647Ser) c.1910T>C (p.Phe637Ser) c.1427T>C (p.Phe476Ser) c.1322T>C (p.Phe441Ser) | gnomAD v4 |
| 3 | g.122283864T>G | CA354157942 | CASR | c.1679T>G (p.Phe560Cys) c.1940T>G (p.Phe647Cys) c.1910T>G (p.Phe637Cys) c.1427T>G (p.Phe476Cys) c.1322T>G (p.Phe441Cys) | |
| 3 | g.122283865C>A | CA354157945 | CASR | c.1680C>A (p.Phe560Leu) c.1941C>A (p.Phe647Leu) c.1911C>A (p.Phe637Leu) c.1428C>A (p.Phe476Leu) c.1323C>A (p.Phe441Leu) | |
| 3 | g.122283865C= | CA1397871127 | CASR | c.1680C= (p.Phe560=) c.1941C= (p.Phe647=) c.1911C= (p.Phe637=) c.1428C= (p.Phe476=) c.1323C= (p.Phe441=) | |
| 3 | g.122283865C>G | CA354157947 | CASR | c.1680C>G (p.Phe560Leu) c.1941C>G (p.Phe647Leu) c.1911C>G (p.Phe637Leu) c.1428C>G (p.Phe476Leu) c.1323C>G (p.Phe441Leu) | ClinVar dbSNP |
| 3 | g.122283865C>T | CA435251970 | CASR | c.1680C>T (p.Phe560=) c.1941C>T (p.Phe647=) c.1911C>T (p.Phe637=) c.1428C>T (p.Phe476=) c.1323C>T (p.Phe441=) | COSMIC |
| 3 | g.122283866C>A | CA354157949 | CASR | c.1681C>A (p.Arg561Ser) c.1942C>A (p.Arg648Ser) c.1912C>A (p.Arg638Ser) c.1429C>A (p.Arg477Ser) c.1324C>A (p.Arg442Ser) | |
| 3 | g.122283866C= | CA1397871132 | CASR | c.1681C= (p.Arg561=) c.1942C= (p.Arg648=) c.1912C= (p.Arg638=) c.1429C= (p.Arg477=) c.1324C= (p.Arg442=) | |
| 3 | g.122283866C>G | CA354157952 | CASR | c.1681C>G (p.Arg561Gly) c.1942C>G (p.Arg648Gly) c.1912C>G (p.Arg638Gly) c.1429C>G (p.Arg477Gly) c.1324C>G (p.Arg442Gly) | |
| 3 | g.122283866C>T | CA354157953 | CASR | c.1681C>T (p.Arg561Cys) c.1942C>T (p.Arg648Cys) c.1912C>T (p.Arg638Cys) c.1429C>T (p.Arg477Cys) c.1324C>T (p.Arg442Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122283867G>A | CA2569760 | CASR | c.1682G>A (p.Arg561His) c.1943G>A (p.Arg648His) c.1913G>A (p.Arg638His) c.1430G>A (p.Arg477His) c.1325G>A (p.Arg442His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283867G>C | CA354157957 | CASR | c.1682G>C (p.Arg561Pro) c.1943G>C (p.Arg648Pro) c.1913G>C (p.Arg638Pro) c.1430G>C (p.Arg477Pro) c.1325G>C (p.Arg442Pro) | |
| 3 | g.122283867G= | CA1397871148 | CASR | c.1682G= (p.Arg561=) c.1943G= (p.Arg648=) c.1913G= (p.Arg638=) c.1430G= (p.Arg477=) c.1325G= (p.Arg442=) | |
| 3 | g.122283867G>T | CA10588349 | CASR | c.1682G>T (p.Arg561Leu) c.1943G>T (p.Arg648Leu) c.1913G>T (p.Arg638Leu) c.1430G>T (p.Arg477Leu) c.1325G>T (p.Arg442Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283867dup | CA915941530 | CASR | c.1682dup (p.Asn562GlnfsTer?) c.1943dup (p.Asn649GlnfsTer?) c.1913dup (p.Asn639GlnfsTer?) c.1430dup (p.Asn478GlnfsTer?) c.1325dup (p.Asn443GlnfsTer?) | ClinVar dbSNP |
| 3 | g.122283868C>A | CA435251974 | CASR | c.1683C>A (p.Arg561=) c.1944C>A (p.Arg648=) c.1914C>A (p.Arg638=) c.1431C>A (p.Arg477=) c.1326C>A (p.Arg442=) | ClinVar |
| 3 | g.122283868C= | CA1397871153 | CASR | c.1683C= (p.Arg561=) c.1944C= (p.Arg648=) c.1914C= (p.Arg638=) c.1431C= (p.Arg477=) c.1326C= (p.Arg442=) | |
| 3 | g.122283868C>G | CA435251973 | CASR | c.1683C>G (p.Arg561=) c.1944C>G (p.Arg648=) c.1914C>G (p.Arg638=) c.1431C>G (p.Arg477=) c.1326C>G (p.Arg442=) | |
| 3 | g.122283868C>T | CA2569761 | CASR | c.1683C>T (p.Arg561=) c.1944C>T (p.Arg648=) c.1914C>T (p.Arg638=) c.1431C>T (p.Arg477=) c.1326C>T (p.Arg442=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122283869A>C | CA354157961 | CASR | c.1684A>C (p.Asn562His) c.1945A>C (p.Asn649His) c.1915A>C (p.Asn639His) c.1432A>C (p.Asn478His) c.1327A>C (p.Asn443His) | gnomAD v4 |
| 3 | g.122283869A>G | CA354157963 | CASR | c.1684A>G (p.Asn562Asp) c.1945A>G (p.Asn649Asp) c.1915A>G (p.Asn639Asp) c.1432A>G (p.Asn478Asp) c.1327A>G (p.Asn443Asp) | |
| 3 | g.122283869A>T | CA354157964 | CASR | c.1684A>T (p.Asn562Tyr) c.1945A>T (p.Asn649Tyr) c.1915A>T (p.Asn639Tyr) c.1432A>T (p.Asn478Tyr) c.1327A>T (p.Asn443Tyr) | |
| 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) |