| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284018C>A | CA354158413 | CASR | c.1833C>A (p.Phe611Leu) c.2094C>A (p.Phe698Leu) c.2064C>A (p.Phe688Leu) c.1581C>A (p.Phe527Leu) c.1476C>A (p.Phe492Leu) | |
| 3 | g.122284018C= | CA1397871501 | CASR | c.1833C= (p.Phe611=) c.2094C= (p.Phe698=) c.2064C= (p.Phe688=) c.1581C= (p.Phe527=) c.1476C= (p.Phe492=) | |
| 3 | g.122284018C>G | CA354158414 | CASR | c.1833C>G (p.Phe611Leu) c.2094C>G (p.Phe698Leu) c.2064C>G (p.Phe688Leu) c.1581C>G (p.Phe527Leu) c.1476C>G (p.Phe492Leu) | ClinVar dbSNP |
| 3 | g.122284018C>T | CA2569778 | CASR | c.1833C>T (p.Phe611=) c.2094C>T (p.Phe698=) c.2064C>T (p.Phe688=) c.1581C>T (p.Phe527=) c.1476C>T (p.Phe492=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284018_122284019delinsTA | CA2740094572 | CASR | c.1833_1834delinsTA (p.Val612Met) c.2094_2095delinsTA (p.Val699Met) c.2064_2065delinsTA (p.Val689Met) c.1581_1582delinsTA (p.Val528Met) c.1476_1477delinsTA (p.Val493Met) | |
| 3 | g.122284019G>A | CA354158415 | CASR | c.1834G>A (p.Val612Met) c.2095G>A (p.Val699Met) c.2065G>A (p.Val689Met) c.1582G>A (p.Val528Met) c.1477G>A (p.Val493Met) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284019G>C | CA354158416 | CASR | c.1834G>C (p.Val612Leu) c.2095G>C (p.Val699Leu) c.2065G>C (p.Val689Leu) c.1582G>C (p.Val528Leu) c.1477G>C (p.Val493Leu) | |
| 3 | g.122284019G>T | CA354158417 | CASR | c.1834G>T (p.Val612Leu) c.2095G>T (p.Val699Leu) c.2065G>T (p.Val689Leu) c.1582G>T (p.Val528Leu) c.1477G>T (p.Val493Leu) | |
| 3 | g.122284020T>A | CA354158418 | CASR | c.1835T>A (p.Val612Glu) c.2096T>A (p.Val699Glu) c.2066T>A (p.Val689Glu) c.1583T>A (p.Val528Glu) c.1478T>A (p.Val493Glu) | |
| 3 | g.122284020T>C | CA354158419 | CASR | c.1835T>C (p.Val612Ala) c.2096T>C (p.Val699Ala) c.2066T>C (p.Val689Ala) c.1583T>C (p.Val528Ala) c.1478T>C (p.Val493Ala) | |
| 3 | g.122284020T>G | CA354158420 | CASR | c.1835T>G (p.Val612Gly) c.2096T>G (p.Val699Gly) c.2066T>G (p.Val689Gly) c.1583T>G (p.Val528Gly) c.1478T>G (p.Val493Gly) | |
| 3 | g.122284021G>A | CA435425048 | CASR | c.1836G>A (p.Val612=) c.2097G>A (p.Val699=) c.2067G>A (p.Val689=) c.1584G>A (p.Val528=) c.1479G>A (p.Val493=) | |
| 3 | g.122284021G>C | CA435425049 | CASR | c.1836G>C (p.Val612=) c.2097G>C (p.Val699=) c.2067G>C (p.Val689=) c.1584G>C (p.Val528=) c.1479G>C (p.Val493=) | |
| 3 | g.122284021G>T | CA435425050 | CASR | c.1836G>T (p.Val612=) c.2097G>T (p.Val699=) c.2067G>T (p.Val689=) c.1584G>T (p.Val528=) c.1479G>T (p.Val493=) | |
| 3 | g.122284022C>A | CA354158421 | CASR | c.1837C>A (p.Leu613Ile) c.2098C>A (p.Leu700Ile) c.2068C>A (p.Leu690Ile) c.1585C>A (p.Leu529Ile) c.1480C>A (p.Leu494Ile) | |
| 3 | g.122284022C= | CA1397871507 | CASR | c.1837C= (p.Leu613=) c.2098C= (p.Leu700=) c.2068C= (p.Leu690=) c.1585C= (p.Leu529=) c.1480C= (p.Leu494=) | |
| 3 | g.122284022C>G | CA354158422 | CASR | c.1837C>G (p.Leu613Val) c.2098C>G (p.Leu700Val) c.2068C>G (p.Leu690Val) c.1585C>G (p.Leu529Val) c.1480C>G (p.Leu494Val) | |
| 3 | g.122284022C>T | CA354158423 | CASR | c.1837C>T (p.Leu613Phe) c.2098C>T (p.Leu700Phe) c.2068C>T (p.Leu690Phe) c.1585C>T (p.Leu529Phe) c.1480C>T (p.Leu494Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284023T>A | CA354158424 | CASR | c.1838T>A (p.Leu613His) c.2099T>A (p.Leu700His) c.2069T>A (p.Leu690His) c.1586T>A (p.Leu529His) c.1481T>A (p.Leu494His) | |
| 3 | g.122284023T>C | CA354158425 | CASR | c.1838T>C (p.Leu613Pro) c.2099T>C (p.Leu700Pro) c.2069T>C (p.Leu690Pro) c.1586T>C (p.Leu529Pro) c.1481T>C (p.Leu494Pro) | |
| 3 | g.122284023T>G | CA354158426 | CASR | c.1838T>G (p.Leu613Arg) c.2099T>G (p.Leu700Arg) c.2069T>G (p.Leu690Arg) c.1586T>G (p.Leu529Arg) c.1481T>G (p.Leu494Arg) | |
| 3 | g.122284024C>A | CA435425053 | CASR | c.1839C>A (p.Leu613=) c.2100C>A (p.Leu700=) c.2070C>A (p.Leu690=) c.1587C>A (p.Leu529=) c.1482C>A (p.Leu494=) | |
| 3 | g.122284024C= | CA1397871510 | CASR | c.1839C= (p.Leu613=) c.2100C= (p.Leu700=) c.2070C= (p.Leu690=) c.1587C= (p.Leu529=) c.1482C= (p.Leu494=) | |
| 3 | g.122284024C>G | CA82748740 | CASR | c.1839C>G (p.Leu613=) c.2100C>G (p.Leu700=) c.2070C>G (p.Leu690=) c.1587C>G (p.Leu529=) c.1482C>G (p.Leu494=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284024C>T | CA435425057 | CASR | c.1839C>T (p.Leu613=) c.2100C>T (p.Leu700=) c.2070C>T (p.Leu690=) c.1587C>T (p.Leu529=) c.1482C>T (p.Leu494=) | |
| 3 | g.122284025T>A | CA354158429 | CASR | c.1840T>A (p.Cys614Ser) c.2101T>A (p.Cys701Ser) c.2071T>A (p.Cys691Ser) c.1588T>A (p.Cys530Ser) c.1483T>A (p.Cys495Ser) | |
| 3 | g.122284025T>C | CA354158427 | CASR | c.1840T>C (p.Cys614Arg) c.2101T>C (p.Cys701Arg) c.2071T>C (p.Cys691Arg) c.1588T>C (p.Cys530Arg) c.1483T>C (p.Cys495Arg) | |
| 3 | g.122284025T>G | CA354158428 | CASR | c.1840T>G (p.Cys614Gly) c.2101T>G (p.Cys701Gly) c.2071T>G (p.Cys691Gly) c.1588T>G (p.Cys530Gly) c.1483T>G (p.Cys495Gly) | ClinVar |
| 3 | g.122284026G>A | CA354158430 | CASR | c.1841G>A (p.Cys614Tyr) c.2102G>A (p.Cys701Tyr) c.2072G>A (p.Cys691Tyr) c.1589G>A (p.Cys530Tyr) c.1484G>A (p.Cys495Tyr) | |
| 3 | g.122284026G>C | CA354158431 | CASR | c.1841G>C (p.Cys614Ser) c.2102G>C (p.Cys701Ser) c.2072G>C (p.Cys691Ser) c.1589G>C (p.Cys530Ser) c.1484G>C (p.Cys495Ser) | ClinVar |
| 3 | g.122284026G>T | CA354158432 | CASR | c.1841G>T (p.Cys614Phe) c.2102G>T (p.Cys701Phe) c.2072G>T (p.Cys691Phe) c.1589G>T (p.Cys530Phe) c.1484G>T (p.Cys495Phe) | |
| 3 | g.122284027C>A | CA354158433 | CASR | c.1842C>A (p.Cys614Ter) c.2103C>A (p.Cys701Ter) c.2073C>A (p.Cys691Ter) c.1590C>A (p.Cys530Ter) c.1485C>A (p.Cys495Ter) | |
| 3 | g.122284027C>G | CA354158434 | CASR | c.1842C>G (p.Cys614Trp) c.2103C>G (p.Cys701Trp) c.2073C>G (p.Cys691Trp) c.1590C>G (p.Cys530Trp) c.1485C>G (p.Cys495Trp) | |
| 3 | g.122284027C>T | CA435425058 | CASR | c.1842C>T (p.Cys614=) c.2103C>T (p.Cys701=) c.2073C>T (p.Cys691=) c.1590C>T (p.Cys530=) c.1485C>T (p.Cys495=) | |
| 3 | g.122284028A>C | CA354158435 | CASR | c.1843A>C (p.Ile615Leu) c.2104A>C (p.Ile702Leu) c.2074A>C (p.Ile692Leu) c.1591A>C (p.Ile531Leu) c.1486A>C (p.Ile496Leu) | |
| 3 | g.122284028A>G | CA354158436 | CASR | c.1843A>G (p.Ile615Val) c.2104A>G (p.Ile702Val) c.2074A>G (p.Ile692Val) c.1591A>G (p.Ile531Val) c.1486A>G (p.Ile496Val) | ClinVar gnomAD v4 |
| 3 | g.122284028A>T | CA354158437 | CASR | c.1843A>T (p.Ile615Phe) c.2104A>T (p.Ile702Phe) c.2074A>T (p.Ile692Phe) c.1591A>T (p.Ile531Phe) c.1486A>T (p.Ile496Phe) | |
| 3 | g.122284029T>A | CA354158438 | CASR | c.1844T>A (p.Ile615Asn) c.2105T>A (p.Ile702Asn) c.2075T>A (p.Ile692Asn) c.1592T>A (p.Ile531Asn) c.1487T>A (p.Ile496Asn) | dbSNP |
| 3 | g.122284029T>C | CA354158439 | CASR | c.1844T>C (p.Ile615Thr) c.2105T>C (p.Ile702Thr) c.2075T>C (p.Ile692Thr) c.1592T>C (p.Ile531Thr) c.1487T>C (p.Ile496Thr) | |
| 3 | g.122284029T>G | CA354158440 | CASR | c.1844T>G (p.Ile615Ser) c.2105T>G (p.Ile702Ser) c.2075T>G (p.Ile692Ser) c.1592T>G (p.Ile531Ser) c.1487T>G (p.Ile496Ser) | |
| 3 | g.122284029T= | CA1397871513 | CASR | c.1844T= (p.Ile615=) c.2105T= (p.Ile702=) c.2075T= (p.Ile692=) c.1592T= (p.Ile531=) c.1487T= (p.Ile496=) | |
| 3 | g.122284029_122284030insG | CA82748745 | CASR | c.1844_1845insG (p.Ile615MetfsTer16) c.2105_2106insG (p.Ile702MetfsTer16) c.2075_2076insG (p.Ile692MetfsTer16) c.1592_1593insG (p.Ile531MetfsTer16) c.1487_1488insG (p.Ile496MetfsTer16) | dbSNP |
| 3 | g.122284030C>A | CA435425061 | CASR | c.1845C>A (p.Ile615=) c.2106C>A (p.Ile702=) c.2076C>A (p.Ile692=) c.1593C>A (p.Ile531=) c.1488C>A (p.Ile496=) | |
| 3 | g.122284030C= | CA1397871517 | CASR | c.1845C= (p.Ile615=) c.2106C= (p.Ile702=) c.2076C= (p.Ile692=) c.1593C= (p.Ile531=) c.1488C= (p.Ile496=) | |
| 3 | g.122284030C>G | CA354158441 | CASR | c.1845C>G (p.Ile615Met) c.2106C>G (p.Ile702Met) c.2076C>G (p.Ile692Met) c.1593C>G (p.Ile531Met) c.1488C>G (p.Ile496Met) | |
| 3 | g.122284030C>T | CA435425062 | CASR | c.1845C>T (p.Ile615=) c.2106C>T (p.Ile702=) c.2076C>T (p.Ile692=) c.1593C>T (p.Ile531=) c.1488C>T (p.Ile496=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284031T>A | CA354158442 | CASR | c.1846T>A (p.Ser616Thr) c.2107T>A (p.Ser703Thr) c.2077T>A (p.Ser693Thr) c.1594T>A (p.Ser532Thr) c.1489T>A (p.Ser497Thr) | |
| 3 | g.122284031T>C | CA354158443 | CASR | c.1846T>C (p.Ser616Pro) c.2107T>C (p.Ser703Pro) c.2077T>C (p.Ser693Pro) c.1594T>C (p.Ser532Pro) c.1489T>C (p.Ser497Pro) | |
| 3 | g.122284031T>G | CA354158444 | CASR | c.1846T>G (p.Ser616Ala) c.2107T>G (p.Ser703Ala) c.2077T>G (p.Ser693Ala) c.1594T>G (p.Ser532Ala) c.1489T>G (p.Ser497Ala) | |
| 3 | g.122284032C>A | CA354158445 | CASR | c.1847C>A (p.Ser616Ter) c.2108C>A (p.Ser703Ter) c.2078C>A (p.Ser693Ter) c.1595C>A (p.Ser532Ter) c.1490C>A (p.Ser497Ter) |