| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284172G>A | CA354159080 | CASR | c.1987G>A (p.Val663Met) c.2248G>A (p.Val750Met) c.2218G>A (p.Val740Met) c.1735G>A (p.Val579Met) c.1630G>A (p.Val544Met) | |
| 3 | g.122284172G>C | CA354159079 | CASR | c.1987G>C (p.Val663Leu) c.2248G>C (p.Val750Leu) c.2218G>C (p.Val740Leu) c.1735G>C (p.Val579Leu) c.1630G>C (p.Val544Leu) | |
| 3 | g.122284172G>T | CA354159078 | CASR | c.1987G>T (p.Val663Leu) c.2248G>T (p.Val750Leu) c.2218G>T (p.Val740Leu) c.1735G>T (p.Val579Leu) c.1630G>T (p.Val544Leu) | |
| 3 | g.122284173T>A | CA354159082 | CASR | c.1988T>A (p.Val663Glu) c.2249T>A (p.Val750Glu) c.2219T>A (p.Val740Glu) c.1736T>A (p.Val579Glu) c.1631T>A (p.Val544Glu) | |
| 3 | g.122284173T>C | CA354159083 | CASR | c.1988T>C (p.Val663Ala) c.2249T>C (p.Val750Ala) c.2219T>C (p.Val740Ala) c.1736T>C (p.Val579Ala) c.1631T>C (p.Val544Ala) | |
| 3 | g.122284173T>G | CA354159084 | CASR | c.1988T>G (p.Val663Gly) c.2249T>G (p.Val750Gly) c.2219T>G (p.Val740Gly) c.1736T>G (p.Val579Gly) c.1631T>G (p.Val544Gly) | |
| 3 | g.122284174G>A | CA435424726 | CASR | c.1989G>A (p.Val663=) c.2250G>A (p.Val750=) c.2220G>A (p.Val740=) c.1737G>A (p.Val579=) c.1632G>A (p.Val544=) | |
| 3 | g.122284174G>C | CA435424724 | CASR | c.1989G>C (p.Val663=) c.2250G>C (p.Val750=) c.2220G>C (p.Val740=) c.1737G>C (p.Val579=) c.1632G>C (p.Val544=) | ClinVar |
| 3 | g.122284174G>T | CA435424727 | CASR | c.1989G>T (p.Val663=) c.2250G>T (p.Val750=) c.2220G>T (p.Val740=) c.1737G>T (p.Val579=) c.1632G>T (p.Val544=) | |
| 3 | g.122284175A>C | CA354159087 | CASR | c.1990A>C (p.Ile664Leu) c.2251A>C (p.Ile751Leu) c.2221A>C (p.Ile741Leu) c.1738A>C (p.Ile580Leu) c.1633A>C (p.Ile545Leu) | |
| 3 | g.122284175A>G | CA354159088 | CASR | c.1990A>G (p.Ile664Val) c.2251A>G (p.Ile751Val) c.2221A>G (p.Ile741Val) c.1738A>G (p.Ile580Val) c.1633A>G (p.Ile545Val) | |
| 3 | g.122284175A>T | CA354159090 | CASR | c.1990A>T (p.Ile664Phe) c.2251A>T (p.Ile751Phe) c.2221A>T (p.Ile741Phe) c.1738A>T (p.Ile580Phe) c.1633A>T (p.Ile545Phe) | |
| 3 | g.122284176T>A | CA354159093 | CASR | c.1991T>A (p.Ile664Asn) c.2252T>A (p.Ile751Asn) c.2222T>A (p.Ile741Asn) c.1739T>A (p.Ile580Asn) c.1634T>A (p.Ile545Asn) | |
| 3 | g.122284176T>C | CA354159096 | CASR | c.1991T>C (p.Ile664Thr) c.2252T>C (p.Ile751Thr) c.2222T>C (p.Ile741Thr) c.1739T>C (p.Ile580Thr) c.1634T>C (p.Ile545Thr) | |
| 3 | g.122284176T>G | CA354159094 | CASR | c.1991T>G (p.Ile664Ser) c.2252T>G (p.Ile751Ser) c.2222T>G (p.Ile741Ser) c.1739T>G (p.Ile580Ser) c.1634T>G (p.Ile545Ser) | |
| 3 | g.122284177C>A | CA435424729 | CASR | c.1992C>A (p.Ile664=) c.2253C>A (p.Ile751=) c.2223C>A (p.Ile741=) c.1740C>A (p.Ile580=) c.1635C>A (p.Ile545=) | |
| 3 | g.122284177C>G | CA354159098 | CASR | c.1992C>G (p.Ile664Met) c.2253C>G (p.Ile751Met) c.2223C>G (p.Ile741Met) c.1740C>G (p.Ile580Met) c.1635C>G (p.Ile545Met) | |
| 3 | g.122284177C>T | CA435424728 | CASR | c.1992C>T (p.Ile664=) c.2253C>T (p.Ile751=) c.2223C>T (p.Ile741=) c.1740C>T (p.Ile580=) c.1635C>T (p.Ile545=) | |
| 3 | g.122284178T>A | CA354159101 | CASR | c.1993T>A (p.Trp665Arg) c.2254T>A (p.Trp752Arg) c.2224T>A (p.Trp742Arg) c.1741T>A (p.Trp581Arg) c.1636T>A (p.Trp546Arg) | |
| 3 | g.122284178T>C | CA354159102 | CASR | c.1993T>C (p.Trp665Arg) c.2254T>C (p.Trp752Arg) c.2224T>C (p.Trp742Arg) c.1741T>C (p.Trp581Arg) c.1636T>C (p.Trp546Arg) | |
| 3 | g.122284178T>G | CA354159105 | CASR | c.1993T>G (p.Trp665Gly) c.2254T>G (p.Trp752Gly) c.2224T>G (p.Trp742Gly) c.1741T>G (p.Trp581Gly) c.1636T>G (p.Trp546Gly) | |
| 3 | g.122284179G>A | CA354159107 | CASR | c.1994G>A (p.Trp665Ter) c.2255G>A (p.Trp752Ter) c.2225G>A (p.Trp742Ter) c.1742G>A (p.Trp581Ter) c.1637G>A (p.Trp546Ter) | |
| 3 | g.122284179G>C | CA354159108 | CASR | c.1994G>C (p.Trp665Ser) c.2255G>C (p.Trp752Ser) c.2225G>C (p.Trp742Ser) c.1742G>C (p.Trp581Ser) c.1637G>C (p.Trp546Ser) | |
| 3 | g.122284179G>T | CA354159110 | CASR | c.1994G>T (p.Trp665Leu) c.2255G>T (p.Trp752Leu) c.2225G>T (p.Trp742Leu) c.1742G>T (p.Trp581Leu) c.1637G>T (p.Trp546Leu) | |
| 3 | g.122284180G>A | CA354159112 | CASR | c.1995G>A (p.Trp665Ter) c.2256G>A (p.Trp752Ter) c.2226G>A (p.Trp742Ter) c.1743G>A (p.Trp581Ter) c.1638G>A (p.Trp546Ter) | gnomAD v4 |
| 3 | g.122284180G>C | CA354159113 | CASR | c.1995G>C (p.Trp665Cys) c.2256G>C (p.Trp752Cys) c.2226G>C (p.Trp742Cys) c.1743G>C (p.Trp581Cys) c.1638G>C (p.Trp546Cys) | |
| 3 | g.122284180G>T | CA354159116 | CASR | c.1995G>T (p.Trp665Cys) c.2256G>T (p.Trp752Cys) c.2226G>T (p.Trp742Cys) c.1743G>T (p.Trp581Cys) c.1638G>T (p.Trp546Cys) | |
| 3 | g.122284181C>A | CA354159122 | CASR | c.1996C>A (p.Leu666Ile) c.2257C>A (p.Leu753Ile) c.2227C>A (p.Leu743Ile) c.1744C>A (p.Leu582Ile) c.1639C>A (p.Leu547Ile) | |
| 3 | g.122284181C>G | CA354159120 | CASR | c.1996C>G (p.Leu666Val) c.2257C>G (p.Leu753Val) c.2227C>G (p.Leu743Val) c.1744C>G (p.Leu582Val) c.1639C>G (p.Leu547Val) | |
| 3 | g.122284181C>T | CA354159118 | CASR | c.1996C>T (p.Leu666Phe) c.2257C>T (p.Leu753Phe) c.2227C>T (p.Leu743Phe) c.1744C>T (p.Leu582Phe) c.1639C>T (p.Leu547Phe) | |
| 3 | g.122284182T>A | CA354159123 | CASR | c.1997T>A (p.Leu666His) c.2258T>A (p.Leu753His) c.2228T>A (p.Leu743His) c.1745T>A (p.Leu582His) c.1640T>A (p.Leu547His) | |
| 3 | g.122284182T>C | CA354159127 | CASR | c.1997T>C (p.Leu666Pro) c.2258T>C (p.Leu753Pro) c.2228T>C (p.Leu743Pro) c.1745T>C (p.Leu582Pro) c.1640T>C (p.Leu547Pro) | |
| 3 | g.122284182T>G | CA354159125 | CASR | c.1997T>G (p.Leu666Arg) c.2258T>G (p.Leu753Arg) c.2228T>G (p.Leu743Arg) c.1745T>G (p.Leu582Arg) c.1640T>G (p.Leu547Arg) | |
| 3 | g.122284183C>A | CA435424732 | CASR | c.1998C>A (p.Leu666=) c.2259C>A (p.Leu753=) c.2229C>A (p.Leu743=) c.1746C>A (p.Leu582=) c.1641C>A (p.Leu547=) | |
| 3 | g.122284183C= | CA1397871803 | CASR | c.1998C= (p.Leu666=) c.2259C= (p.Leu753=) c.2229C= (p.Leu743=) c.1746C= (p.Leu582=) c.1641C= (p.Leu547=) | |
| 3 | g.122284183C>G | CA435424733 | CASR | c.1998C>G (p.Leu666=) c.2259C>G (p.Leu753=) c.2229C>G (p.Leu743=) c.1746C>G (p.Leu582=) c.1641C>G (p.Leu547=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284183C>T | CA82748819 | CASR | c.1998C>T (p.Leu666=) c.2259C>T (p.Leu753=) c.2229C>T (p.Leu743=) c.1746C>T (p.Leu582=) c.1641C>T (p.Leu547=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284183_122284184insAA | CA2542307779 | CASR | c.1998_1999insAA (p.Tyr667AsnfsTer?) c.2259_2260insAA (p.Tyr754AsnfsTer?) c.2229_2230insAA (p.Tyr744AsnfsTer?) c.1746_1747insAA (p.Tyr583AsnfsTer?) c.1641_1642insAA (p.Tyr548AsnfsTer?) | |
| 3 | g.122284184T>A | CA354159130 | CASR | c.1999T>A (p.Tyr667Asn) c.2260T>A (p.Tyr754Asn) c.2230T>A (p.Tyr744Asn) c.1747T>A (p.Tyr583Asn) c.1642T>A (p.Tyr548Asn) | |
| 3 | g.122284184T>C | CA354159132 | CASR | c.1999T>C (p.Tyr667His) c.2260T>C (p.Tyr754His) c.2230T>C (p.Tyr744His) c.1747T>C (p.Tyr583His) c.1642T>C (p.Tyr548His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284184T>G | CA354159134 | CASR | c.1999T>G (p.Tyr667Asp) c.2260T>G (p.Tyr754Asp) c.2230T>G (p.Tyr744Asp) c.1747T>G (p.Tyr583Asp) c.1642T>G (p.Tyr548Asp) | |
| 3 | g.122284184T= | CA1397871805 | CASR | c.1999T= (p.Tyr667=) c.2260T= (p.Tyr754=) c.2230T= (p.Tyr744=) c.1747T= (p.Tyr583=) c.1642T= (p.Tyr548=) | |
| 3 | g.122284185A= | CA1397871806 | CASR | c.2000A= (p.Tyr667=) c.2261A= (p.Tyr754=) c.2231A= (p.Tyr744=) c.1748A= (p.Tyr583=) c.1643A= (p.Tyr548=) | |
| 3 | g.122284185A>C | CA354159136 | CASR | c.2000A>C (p.Tyr667Ser) c.2261A>C (p.Tyr754Ser) c.2231A>C (p.Tyr744Ser) c.1748A>C (p.Tyr583Ser) c.1643A>C (p.Tyr548Ser) | gnomAD v4 |
| 3 | g.122284185A>G | CA354159138 | CASR | c.2000A>G (p.Tyr667Cys) c.2261A>G (p.Tyr754Cys) c.2231A>G (p.Tyr744Cys) c.1748A>G (p.Tyr583Cys) c.1643A>G (p.Tyr548Cys) | |
| 3 | g.122284185A>T | CA2569796 | CASR | c.2000A>T (p.Tyr667Phe) c.2261A>T (p.Tyr754Phe) c.2231A>T (p.Tyr744Phe) c.1748A>T (p.Tyr583Phe) c.1643A>T (p.Tyr548Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284186C>A | CA354159141 | CASR | c.2001C>A (p.Tyr667Ter) c.2262C>A (p.Tyr754Ter) c.2232C>A (p.Tyr744Ter) c.1749C>A (p.Tyr583Ter) c.1644C>A (p.Tyr548Ter) | |
| 3 | g.122284186C>G | CA354159142 | CASR | c.2001C>G (p.Tyr667Ter) c.2262C>G (p.Tyr754Ter) c.2232C>G (p.Tyr744Ter) c.1749C>G (p.Tyr583Ter) c.1644C>G (p.Tyr548Ter) | |
| 3 | g.122284186C>T | CA435424735 | CASR | c.2001C>T (p.Tyr667=) c.2262C>T (p.Tyr754=) c.2232C>T (p.Tyr744=) c.1749C>T (p.Tyr583=) c.1644C>T (p.Tyr548=) | ClinVar |
| 3 | g.122284187A>C | CA354159145 | CASR | c.2002A>C (p.Thr668Pro) c.2263A>C (p.Thr755Pro) c.2233A>C (p.Thr745Pro) c.1750A>C (p.Thr584Pro) c.1645A>C (p.Thr549Pro) |