| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284321_122284323del | CA2508817364 | CASR | c.2136_2138del (p.Phe713del) c.2397_2399del (p.Phe800del) c.2367_2369del (p.Phe790del) c.1884_1886del (p.Phe629del) c.1779_1781del (p.Phe594del) | |
| 3 | g.122284316T>A | CA354159629 | CASR | c.2131T>A (p.Phe711Ile) c.2392T>A (p.Phe798Ile) c.2362T>A (p.Phe788Ile) c.1879T>A (p.Phe627Ile) c.1774T>A (p.Phe592Ile) | |
| 3 | g.122284316T>C | CA119529 | CASR | c.2131T>C (p.Phe711Leu) c.2392T>C (p.Phe798Leu) c.2362T>C (p.Phe788Leu) c.1879T>C (p.Phe627Leu) c.1774T>C (p.Phe592Leu) | ClinVar dbSNP |
| 3 | g.122284316T>G | CA354159630 | CASR | c.2131T>G (p.Phe711Val) c.2392T>G (p.Phe798Val) c.2362T>G (p.Phe788Val) c.1879T>G (p.Phe627Val) c.1774T>G (p.Phe592Val) | |
| 3 | g.122284316T= | CA1397872174 | CASR | c.2131T= (p.Phe711=) c.2392T= (p.Phe798=) c.2362T= (p.Phe788=) c.1879T= (p.Phe627=) c.1774T= (p.Phe592=) | |
| 3 | g.122284317T>A | CA354159631 | CASR | c.2132T>A (p.Phe711Tyr) c.2393T>A (p.Phe798Tyr) c.2363T>A (p.Phe788Tyr) c.1880T>A (p.Phe627Tyr) c.1775T>A (p.Phe592Tyr) | COSMIC |
| 3 | g.122284317T>C | CA354159632 | CASR | c.2132T>C (p.Phe711Ser) c.2393T>C (p.Phe798Ser) c.2363T>C (p.Phe788Ser) c.1880T>C (p.Phe627Ser) c.1775T>C (p.Phe592Ser) | ClinVar dbSNP |
| 3 | g.122284317T>G | CA119509 | CASR | c.2132T>G (p.Phe711Cys) c.2393T>G (p.Phe798Cys) c.2363T>G (p.Phe788Cys) c.1880T>G (p.Phe627Cys) c.1775T>G (p.Phe592Cys) | ClinVar dbSNP |
| 3 | g.122284317T= | CA1397872183 | CASR | c.2132T= (p.Phe711=) c.2393T= (p.Phe798=) c.2363T= (p.Phe788=) c.1880T= (p.Phe627=) c.1775T= (p.Phe592=) | |
| 3 | g.122284318del | CA2580618220 | CASR | c.2133del (p.Phe712SerfsTer?) c.2394del (p.Phe799SerfsTer?) c.2364del (p.Phe789SerfsTer?) c.1881del (p.Phe628SerfsTer?) c.1776del (p.Phe593SerfsTer?) | |
| 3 | g.122284318C>A | CA354159633 | CASR | c.2133C>A (p.Phe711Leu) c.2394C>A (p.Phe798Leu) c.2364C>A (p.Phe788Leu) c.1881C>A (p.Phe627Leu) c.1776C>A (p.Phe592Leu) | |
| 3 | g.122284318C= | CA1397872186 | CASR | c.2133C= (p.Phe711=) c.2394C= (p.Phe798=) c.2364C= (p.Phe788=) c.1881C= (p.Phe627=) c.1776C= (p.Phe592=) | |
| 3 | g.122284318C>G | CA10602865 | CASR | c.2133C>G (p.Phe711Leu) c.2394C>G (p.Phe798Leu) c.2364C>G (p.Phe788Leu) c.1881C>G (p.Phe627Leu) c.1776C>G (p.Phe592Leu) | ClinVar dbSNP |
| 3 | g.122284318C>T | CA435425128 | CASR | c.2133C>T (p.Phe711=) c.2394C>T (p.Phe798=) c.2364C>T (p.Phe788=) c.1881C>T (p.Phe627=) c.1776C>T (p.Phe592=) | |
| 3 | g.122284319T>A | CA354159634 | CASR | c.2134T>A (p.Phe712Ile) c.2395T>A (p.Phe799Ile) c.2365T>A (p.Phe789Ile) c.1882T>A (p.Phe628Ile) c.1777T>A (p.Phe593Ile) | |
| 3 | g.122284319T>C | CA354159635 | CASR | c.2134T>C (p.Phe712Leu) c.2395T>C (p.Phe799Leu) c.2365T>C (p.Phe789Leu) c.1882T>C (p.Phe628Leu) c.1777T>C (p.Phe593Leu) | |
| 3 | g.122284319T>G | CA354159636 | CASR | c.2134T>G (p.Phe712Val) c.2395T>G (p.Phe799Val) c.2365T>G (p.Phe789Val) c.1882T>G (p.Phe628Val) c.1777T>G (p.Phe593Val) | |
| 3 | g.122284320T>A | CA354159637 | CASR | c.2135T>A (p.Phe712Tyr) c.2396T>A (p.Phe799Tyr) c.2366T>A (p.Phe789Tyr) c.1883T>A (p.Phe628Tyr) c.1778T>A (p.Phe593Tyr) | |
| 3 | g.122284320T>C | CA354159638 | CASR | c.2135T>C (p.Phe712Ser) c.2396T>C (p.Phe799Ser) c.2366T>C (p.Phe789Ser) c.1883T>C (p.Phe628Ser) c.1778T>C (p.Phe593Ser) | gnomAD v4 |
| 3 | g.122284320T>G | CA354159639 | CASR | c.2135T>G (p.Phe712Cys) c.2396T>G (p.Phe799Cys) c.2366T>G (p.Phe789Cys) c.1883T>G (p.Phe628Cys) c.1778T>G (p.Phe593Cys) | |
| 3 | g.122284321C>A | CA354159641 | CASR | c.2136C>A (p.Phe712Leu) c.2397C>A (p.Phe799Leu) c.2367C>A (p.Phe789Leu) c.1884C>A (p.Phe628Leu) c.1779C>A (p.Phe593Leu) | |
| 3 | g.122284321C>G | CA354159640 | CASR | c.2136C>G (p.Phe712Leu) c.2397C>G (p.Phe799Leu) c.2367C>G (p.Phe789Leu) c.1884C>G (p.Phe628Leu) c.1779C>G (p.Phe593Leu) | gnomAD v4 |
| 3 | g.122284321C>T | CA435425134 | CASR | c.2136C>T (p.Phe712=) c.2397C>T (p.Phe799=) c.2367C>T (p.Phe789=) c.1884C>T (p.Phe628=) c.1779C>T (p.Phe593=) | |
| 3 | g.122284322T>A | CA354159642 | CASR | c.2137T>A (p.Phe713Ile) c.2398T>A (p.Phe800Ile) c.2368T>A (p.Phe790Ile) c.1885T>A (p.Phe629Ile) c.1780T>A (p.Phe594Ile) | |
| 3 | g.122284322T>C | CA354159643 | CASR | c.2137T>C (p.Phe713Leu) c.2398T>C (p.Phe800Leu) c.2368T>C (p.Phe790Leu) c.1885T>C (p.Phe629Leu) c.1780T>C (p.Phe594Leu) | ClinVar |
| 3 | g.122284322T>G | CA354159644 | CASR | c.2137T>G (p.Phe713Val) c.2398T>G (p.Phe800Val) c.2368T>G (p.Phe790Val) c.1885T>G (p.Phe629Val) c.1780T>G (p.Phe594Val) | |
| 3 | g.122284323T>A | CA354159645 | CASR | c.2138T>A (p.Phe713Tyr) c.2399T>A (p.Phe800Tyr) c.2369T>A (p.Phe790Tyr) c.1886T>A (p.Phe629Tyr) c.1781T>A (p.Phe594Tyr) | |
| 3 | g.122284323T>C | CA354159646 | CASR | c.2138T>C (p.Phe713Ser) c.2399T>C (p.Phe800Ser) c.2369T>C (p.Phe790Ser) c.1886T>C (p.Phe629Ser) c.1781T>C (p.Phe594Ser) | |
| 3 | g.122284323T>G | CA354159647 | CASR | c.2138T>G (p.Phe713Cys) c.2399T>G (p.Phe800Cys) c.2369T>G (p.Phe790Cys) c.1886T>G (p.Phe629Cys) c.1781T>G (p.Phe594Cys) | ClinVar |
| 3 | g.122284324T>A | CA354159648 | CASR | c.2139T>A (p.Phe713Leu) c.2400T>A (p.Phe800Leu) c.2370T>A (p.Phe790Leu) c.1887T>A (p.Phe629Leu) c.1782T>A (p.Phe594Leu) | |
| 3 | g.122284324T>C | CA435425141 | CASR | c.2139T>C (p.Phe713=) c.2400T>C (p.Phe800=) c.2370T>C (p.Phe790=) c.1887T>C (p.Phe629=) c.1782T>C (p.Phe594=) | |
| 3 | g.122284324T>G | CA354159649 | CASR | c.2139T>G (p.Phe713Leu) c.2400T>G (p.Phe800Leu) c.2370T>G (p.Phe790Leu) c.1887T>G (p.Phe629Leu) c.1782T>G (p.Phe594Leu) | ClinVar |
| 3 | g.122284325G>A | CA354159650 | CASR | c.2140G>A (p.Ala714Thr) c.2401G>A (p.Ala801Thr) c.2371G>A (p.Ala791Thr) c.1888G>A (p.Ala630Thr) c.1783G>A (p.Ala595Thr) | ClinVar dbSNP |
| 3 | g.122284325G>C | CA354159651 | CASR | c.2140G>C (p.Ala714Pro) c.2401G>C (p.Ala801Pro) c.2371G>C (p.Ala791Pro) c.1888G>C (p.Ala630Pro) c.1783G>C (p.Ala595Pro) | |
| 3 | g.122284325G>T | CA354159652 | CASR | c.2140G>T (p.Ala714Ser) c.2401G>T (p.Ala801Ser) c.2371G>T (p.Ala791Ser) c.1888G>T (p.Ala630Ser) c.1783G>T (p.Ala595Ser) | gnomAD v4 |
| 3 | g.122284326C>A | CA354159655 | CASR | c.2141C>A (p.Ala714Asp) c.2402C>A (p.Ala801Asp) c.2372C>A (p.Ala791Asp) c.1889C>A (p.Ala630Asp) c.1784C>A (p.Ala595Asp) | COSMIC |
| 3 | g.122284326C>G | CA354159654 | CASR | c.2141C>G (p.Ala714Gly) c.2402C>G (p.Ala801Gly) c.2372C>G (p.Ala791Gly) c.1889C>G (p.Ala630Gly) c.1784C>G (p.Ala595Gly) | |
| 3 | g.122284326C>T | CA354159653 | CASR | c.2141C>T (p.Ala714Val) c.2402C>T (p.Ala801Val) c.2372C>T (p.Ala791Val) c.1889C>T (p.Ala630Val) c.1784C>T (p.Ala595Val) | gnomAD v4 |
| 3 | g.122284327C>A | CA435425145 | CASR | c.2142C>A (p.Ala714=) c.2403C>A (p.Ala801=) c.2373C>A (p.Ala791=) c.1890C>A (p.Ala630=) c.1785C>A (p.Ala595=) | |
| 3 | g.122284327C= | CA1397872190 | CASR | c.2142C= (p.Ala714=) c.2403C= (p.Ala801=) c.2373C= (p.Ala791=) c.1890C= (p.Ala630=) c.1785C= (p.Ala595=) | |
| 3 | g.122284327C>G | CA435425146 | CASR | c.2142C>G (p.Ala714=) c.2403C>G (p.Ala801=) c.2373C>G (p.Ala791=) c.1890C>G (p.Ala630=) c.1785C>G (p.Ala595=) | |
| 3 | g.122284327C>T | CA435425148 | CASR | c.2142C>T (p.Ala714=) c.2403C>T (p.Ala801=) c.2373C>T (p.Ala791=) c.1890C>T (p.Ala630=) c.1785C>T (p.Ala595=) | ClinVar dbSNP |
| 3 | g.122284328T>A | CA354159656 | CASR | c.2143T>A (p.Phe715Ile) c.2404T>A (p.Phe802Ile) c.2374T>A (p.Phe792Ile) c.1891T>A (p.Phe631Ile) c.1786T>A (p.Phe596Ile) | |
| 3 | g.122284328T>C | CA354159657 | CASR | c.2143T>C (p.Phe715Leu) c.2404T>C (p.Phe802Leu) c.2374T>C (p.Phe792Leu) c.1891T>C (p.Phe631Leu) c.1786T>C (p.Phe596Leu) | |
| 3 | g.122284328T>G | CA354159658 | CASR | c.2143T>G (p.Phe715Val) c.2404T>G (p.Phe802Val) c.2374T>G (p.Phe792Val) c.1891T>G (p.Phe631Val) c.1786T>G (p.Phe596Val) | |
| 3 | g.122284329T>A | CA354159659 | CASR | c.2144T>A (p.Phe715Tyr) c.2405T>A (p.Phe802Tyr) c.2375T>A (p.Phe792Tyr) c.1892T>A (p.Phe631Tyr) c.1787T>A (p.Phe596Tyr) | |
| 3 | g.122284329T>C | CA354159660 | CASR | c.2144T>C (p.Phe715Ser) c.2405T>C (p.Phe802Ser) c.2375T>C (p.Phe792Ser) c.1892T>C (p.Phe631Ser) c.1787T>C (p.Phe596Ser) | |
| 3 | g.122284329T>G | CA354159661 | CASR | c.2144T>G (p.Phe715Cys) c.2405T>G (p.Phe802Cys) c.2375T>G (p.Phe792Cys) c.1892T>G (p.Phe631Cys) c.1787T>G (p.Phe596Cys) | |
| 3 | g.122284330C>A | CA354159662 | CASR | c.2145C>A (p.Phe715Leu) c.2406C>A (p.Phe802Leu) c.2376C>A (p.Phe792Leu) c.1893C>A (p.Phe631Leu) c.1788C>A (p.Phe596Leu) | |
| 3 | g.122284330C= | CA1397872196 | CASR | c.2145C= (p.Phe715=) c.2406C= (p.Phe802=) c.2376C= (p.Phe792=) c.1893C= (p.Phe631=) c.1788C= (p.Phe596=) |