| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284235_122284237del | CA2586972868 | CASR | c.2050_2052del (p.Ile684del) c.2311_2313del (p.Ile771del) c.2281_2283del (p.Ile761del) c.1798_1800del (p.Ile600del) c.1693_1695del (p.Ile565del) | |
| 3 | g.122284237C>A | CA435424816 | CASR | c.2052C>A (p.Ile684=) c.2313C>A (p.Ile771=) c.2283C>A (p.Ile761=) c.1800C>A (p.Ile600=) c.1695C>A (p.Ile565=) | ClinVar |
| 3 | g.122284237C>G | CA354159309 | CASR | c.2052C>G (p.Ile684Met) c.2313C>G (p.Ile771Met) c.2283C>G (p.Ile761Met) c.1800C>G (p.Ile600Met) c.1695C>G (p.Ile565Met) | |
| 3 | g.122284237C>T | CA435424815 | CASR | c.2052C>T (p.Ile684=) c.2313C>T (p.Ile771=) c.2283C>T (p.Ile761=) c.1800C>T (p.Ile600=) c.1695C>T (p.Ile565=) | ClinVar |
| 3 | g.122284238T>A | CA354159310 | CASR | c.2053T>A (p.Phe685Ile) c.2314T>A (p.Phe772Ile) c.2284T>A (p.Phe762Ile) c.1801T>A (p.Phe601Ile) c.1696T>A (p.Phe566Ile) | |
| 3 | g.122284238T>C | CA354159312 | CASR | c.2053T>C (p.Phe685Leu) c.2314T>C (p.Phe772Leu) c.2284T>C (p.Phe762Leu) c.1801T>C (p.Phe601Leu) c.1696T>C (p.Phe566Leu) | |
| 3 | g.122284238T>G | CA354159314 | CASR | c.2053T>G (p.Phe685Val) c.2314T>G (p.Phe772Val) c.2284T>G (p.Phe762Val) c.1801T>G (p.Phe601Val) c.1696T>G (p.Phe566Val) | |
| 3 | g.122284239T>A | CA354159317 | CASR | c.2054T>A (p.Phe685Tyr) c.2315T>A (p.Phe772Tyr) c.2285T>A (p.Phe762Tyr) c.1802T>A (p.Phe601Tyr) c.1697T>A (p.Phe566Tyr) | |
| 3 | g.122284239T>C | CA354159319 | CASR | c.2054T>C (p.Phe685Ser) c.2315T>C (p.Phe772Ser) c.2285T>C (p.Phe762Ser) c.1802T>C (p.Phe601Ser) c.1697T>C (p.Phe566Ser) | |
| 3 | g.122284239T>G | CA354159320 | CASR | c.2054T>G (p.Phe685Cys) c.2315T>G (p.Phe772Cys) c.2285T>G (p.Phe762Cys) c.1802T>G (p.Phe601Cys) c.1697T>G (p.Phe566Cys) | |
| 3 | g.122284240C>A | CA354159323 | CASR | c.2055C>A (p.Phe685Leu) c.2316C>A (p.Phe772Leu) c.2286C>A (p.Phe762Leu) c.1803C>A (p.Phe601Leu) c.1698C>A (p.Phe566Leu) | |
| 3 | g.122284240C>G | CA354159324 | CASR | c.2055C>G (p.Phe685Leu) c.2316C>G (p.Phe772Leu) c.2286C>G (p.Phe762Leu) c.1803C>G (p.Phe601Leu) c.1698C>G (p.Phe566Leu) | |
| 3 | g.122284240C>T | CA435424822 | CASR | c.2055C>T (p.Phe685=) c.2316C>T (p.Phe772=) c.2286C>T (p.Phe762=) c.1803C>T (p.Phe601=) c.1698C>T (p.Phe566=) | |
| 3 | g.122284241A>C | CA354159326 | CASR | c.2056A>C (p.Ile686Leu) c.2317A>C (p.Ile773Leu) c.2287A>C (p.Ile763Leu) c.1804A>C (p.Ile602Leu) c.1699A>C (p.Ile567Leu) | gnomAD v4 |
| 3 | g.122284241A>G | CA354159327 | CASR | c.2056A>G (p.Ile686Val) c.2317A>G (p.Ile773Val) c.2287A>G (p.Ile763Val) c.1804A>G (p.Ile602Val) c.1699A>G (p.Ile567Val) | gnomAD v4 |
| 3 | g.122284241A>T | CA354159329 | CASR | c.2056A>T (p.Ile686Phe) c.2317A>T (p.Ile773Phe) c.2287A>T (p.Ile763Phe) c.1804A>T (p.Ile602Phe) c.1699A>T (p.Ile567Phe) | COSMIC |
| 3 | g.122284242T>A | CA354159331 | CASR | c.2057T>A (p.Ile686Asn) c.2318T>A (p.Ile773Asn) c.2288T>A (p.Ile763Asn) c.1805T>A (p.Ile602Asn) c.1700T>A (p.Ile567Asn) | |
| 3 | g.122284242T>C | CA354159333 | CASR | c.2057T>C (p.Ile686Thr) c.2318T>C (p.Ile773Thr) c.2288T>C (p.Ile763Thr) c.1805T>C (p.Ile602Thr) c.1700T>C (p.Ile567Thr) | |
| 3 | g.122284242T>G | CA354159336 | CASR | c.2057T>G (p.Ile686Ser) c.2318T>G (p.Ile773Ser) c.2288T>G (p.Ile763Ser) c.1805T>G (p.Ile602Ser) c.1700T>G (p.Ile567Ser) | |
| 3 | g.122284243C>A | CA435424831 | CASR | c.2058C>A (p.Ile686=) c.2319C>A (p.Ile773=) c.2289C>A (p.Ile763=) c.1806C>A (p.Ile602=) c.1701C>A (p.Ile567=) | |
| 3 | g.122284243C>G | CA354159338 | CASR | c.2058C>G (p.Ile686Met) c.2319C>G (p.Ile773Met) c.2289C>G (p.Ile763Met) c.1806C>G (p.Ile602Met) c.1701C>G (p.Ile567Met) | |
| 3 | g.122284243C>T | CA435424833 | CASR | c.2058C>T (p.Ile686=) c.2319C>T (p.Ile773=) c.2289C>T (p.Ile763=) c.1806C>T (p.Ile602=) c.1701C>T (p.Ile567=) | |
| 3 | g.122284244A= | CA1397871965 | CASR | c.2059A= (p.Thr687=) c.2320A= (p.Thr774=) c.2290A= (p.Thr764=) c.1807A= (p.Thr603=) c.1702A= (p.Thr568=) | |
| 3 | g.122284244A>C | CA354159342 | CASR | c.2059A>C (p.Thr687Pro) c.2320A>C (p.Thr774Pro) c.2290A>C (p.Thr764Pro) c.1807A>C (p.Thr603Pro) c.1702A>C (p.Thr568Pro) | ClinVar dbSNP |
| 3 | g.122284244A>G | CA354159341 | CASR | c.2059A>G (p.Thr687Ala) c.2320A>G (p.Thr774Ala) c.2290A>G (p.Thr764Ala) c.1807A>G (p.Thr603Ala) c.1702A>G (p.Thr568Ala) | |
| 3 | g.122284244A>T | CA354159343 | CASR | c.2059A>T (p.Thr687Ser) c.2320A>T (p.Thr774Ser) c.2290A>T (p.Thr764Ser) c.1807A>T (p.Thr603Ser) c.1702A>T (p.Thr568Ser) | |
| 3 | g.122284245C>A | CA354159346 | CASR | c.2060C>A (p.Thr687Lys) c.2321C>A (p.Thr774Lys) c.2291C>A (p.Thr764Lys) c.1808C>A (p.Thr603Lys) c.1703C>A (p.Thr568Lys) | |
| 3 | g.122284245C= | CA1397871968 | CASR | c.2060C= (p.Thr687=) c.2321C= (p.Thr774=) c.2291C= (p.Thr764=) c.1808C= (p.Thr603=) c.1703C= (p.Thr568=) | |
| 3 | g.122284245C>G | CA354159348 | CASR | c.2060C>G (p.Thr687Arg) c.2321C>G (p.Thr774Arg) c.2291C>G (p.Thr764Arg) c.1808C>G (p.Thr603Arg) c.1703C>G (p.Thr568Arg) | |
| 3 | g.122284245C>T | CA2569808 | CASR | c.2060C>T (p.Thr687Met) c.2321C>T (p.Thr774Met) c.2291C>T (p.Thr764Met) c.1808C>T (p.Thr603Met) c.1703C>T (p.Thr568Met) | dbSNP ExAC gnomAD v2 |
| 3 | g.122284246G>A | CA82748899 | CASR | c.2061G>A (p.Thr687=) c.2322G>A (p.Thr774=) c.2292G>A (p.Thr764=) c.1809G>A (p.Thr603=) c.1704G>A (p.Thr568=) | ClinVar dbSNP |
| 3 | g.122284246G>C | CA435424841 | CASR | c.2061G>C (p.Thr687=) c.2322G>C (p.Thr774=) c.2292G>C (p.Thr764=) c.1809G>C (p.Thr603=) c.1704G>C (p.Thr568=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284246G= | CA1397871973 | CASR | c.2061G= (p.Thr687=) c.2322G= (p.Thr774=) c.2292G= (p.Thr764=) c.1809G= (p.Thr603=) c.1704G= (p.Thr568=) | |
| 3 | g.122284246G>T | CA435424842 | CASR | c.2061G>T (p.Thr687=) c.2322G>T (p.Thr774=) c.2292G>T (p.Thr764=) c.1809G>T (p.Thr603=) c.1704G>T (p.Thr568=) | ClinVar |
| 3 | g.122284247T>A | CA354159353 | CASR | c.2062T>A (p.Cys688Ser) c.2323T>A (p.Cys775Ser) c.2293T>A (p.Cys765Ser) c.1810T>A (p.Cys604Ser) c.1705T>A (p.Cys569Ser) | |
| 3 | g.122284247T>C | CA354159356 | CASR | c.2062T>C (p.Cys688Arg) c.2323T>C (p.Cys775Arg) c.2293T>C (p.Cys765Arg) c.1810T>C (p.Cys604Arg) c.1705T>C (p.Cys569Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284247T>G | CA354159358 | CASR | c.2062T>G (p.Cys688Gly) c.2323T>G (p.Cys775Gly) c.2293T>G (p.Cys765Gly) c.1810T>G (p.Cys604Gly) c.1705T>G (p.Cys569Gly) | |
| 3 | g.122284247T= | CA1397871981 | CASR | c.2062T= (p.Cys688=) c.2323T= (p.Cys775=) c.2293T= (p.Cys765=) c.1810T= (p.Cys604=) c.1705T= (p.Cys569=) | |
| 3 | g.122284248G>A | CA354159360 | CASR | c.2063G>A (p.Cys688Tyr) c.2324G>A (p.Cys775Tyr) c.2294G>A (p.Cys765Tyr) c.1811G>A (p.Cys604Tyr) c.1706G>A (p.Cys569Tyr) | |
| 3 | g.122284248G>C | CA354159363 | CASR | c.2063G>C (p.Cys688Ser) c.2324G>C (p.Cys775Ser) c.2294G>C (p.Cys765Ser) c.1811G>C (p.Cys604Ser) c.1706G>C (p.Cys569Ser) | |
| 3 | g.122284248G>T | CA354159365 | CASR | c.2063G>T (p.Cys688Phe) c.2324G>T (p.Cys775Phe) c.2294G>T (p.Cys765Phe) c.1811G>T (p.Cys604Phe) c.1706G>T (p.Cys569Phe) | |
| 3 | g.122284249C>A | CA354159367 | CASR | c.2064C>A (p.Cys688Ter) c.2325C>A (p.Cys775Ter) c.2295C>A (p.Cys765Ter) c.1812C>A (p.Cys604Ter) c.1707C>A (p.Cys569Ter) | |
| 3 | g.122284249C= | CA1397871988 | CASR | c.2064C= (p.Cys688=) c.2325C= (p.Cys775=) c.2295C= (p.Cys765=) c.1812C= (p.Cys604=) c.1707C= (p.Cys569=) | |
| 3 | g.122284249C>G | CA354159369 | CASR | c.2064C>G (p.Cys688Trp) c.2325C>G (p.Cys775Trp) c.2295C>G (p.Cys765Trp) c.1812C>G (p.Cys604Trp) c.1707C>G (p.Cys569Trp) | ClinVar dbSNP |
| 3 | g.122284249C>T | CA435424843 | CASR | c.2064C>T (p.Cys688=) c.2325C>T (p.Cys775=) c.2295C>T (p.Cys765=) c.1812C>T (p.Cys604=) c.1707C>T (p.Cys569=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284250C>A | CA354159378 | CASR | c.2065C>A (p.His689Asn) c.2326C>A (p.His776Asn) c.2296C>A (p.His766Asn) c.1813C>A (p.His605Asn) c.1708C>A (p.His570Asn) | ClinVar dbSNP |
| 3 | g.122284250C= | CA1397871992 | CASR | c.2065C= (p.His689=) c.2326C= (p.His776=) c.2296C= (p.His766=) c.1813C= (p.His605=) c.1708C= (p.His570=) | |
| 3 | g.122284250C>G | CA354159377 | CASR | c.2065C>G (p.His689Asp) c.2326C>G (p.His776Asp) c.2296C>G (p.His766Asp) c.1813C>G (p.His605Asp) c.1708C>G (p.His570Asp) | |
| 3 | g.122284250C>T | CA2569809 | CASR | c.2065C>T (p.His689Tyr) c.2326C>T (p.His776Tyr) c.2296C>T (p.His766Tyr) c.1813C>T (p.His605Tyr) c.1708C>T (p.His570Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284251_122284252dup | CA2499216413 | CASR | c.2066_2067dup (p.Glu690ThrfsTer11) c.2327_2328dup (p.Glu777ThrfsTer11) c.2297_2298dup (p.Glu767ThrfsTer11) c.1814_1815dup (p.Glu606ThrfsTer11) c.1709_1710dup (p.Glu571ThrfsTer11) | ClinVar dbSNP |