| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284413C>A | CA354159852 | CASR | c.2228C>A (p.Ser743Tyr) c.2489C>A (p.Ser830Tyr) c.2459C>A (p.Ser820Tyr) c.1976C>A (p.Ser659Tyr) c.1871C>A (p.Ser624Tyr) | |
| 3 | g.122284413C= | CA1397872368 | CASR | c.2228C= (p.Ser743=) c.2489C= (p.Ser830=) c.2459C= (p.Ser820=) c.1976C= (p.Ser659=) c.1871C= (p.Ser624=) | |
| 3 | g.122284413C>G | CA354159853 | CASR | c.2228C>G (p.Ser743Cys) c.2489C>G (p.Ser830Cys) c.2459C>G (p.Ser820Cys) c.1976C>G (p.Ser659Cys) c.1871C>G (p.Ser624Cys) | |
| 3 | g.122284413C>T | CA119527 | CASR | c.2228C>T (p.Ser743Phe) c.2489C>T (p.Ser830Phe) c.2459C>T (p.Ser820Phe) c.1976C>T (p.Ser659Phe) c.1871C>T (p.Ser624Phe) | ClinVar dbSNP COSMIC |
| 3 | g.122284414C>A | CA435425303 | CASR | c.2229C>A (p.Ser743=) c.2490C>A (p.Ser830=) c.2460C>A (p.Ser820=) c.1977C>A (p.Ser659=) c.1872C>A (p.Ser624=) | |
| 3 | g.122284414C>G | CA435425304 | CASR | c.2229C>G (p.Ser743=) c.2490C>G (p.Ser830=) c.2460C>G (p.Ser820=) c.1977C>G (p.Ser659=) c.1872C>G (p.Ser624=) | |
| 3 | g.122284414C>T | CA435425305 | CASR | c.2229C>T (p.Ser743=) c.2490C>T (p.Ser830=) c.2460C>T (p.Ser820=) c.1977C>T (p.Ser659=) c.1872C>T (p.Ser624=) | ClinVar |
| 3 | g.122284415T>A | CA354159855 | CASR | c.2230T>A (p.Phe744Ile) c.2491T>A (p.Phe831Ile) c.2461T>A (p.Phe821Ile) c.1978T>A (p.Phe660Ile) c.1873T>A (p.Phe625Ile) | |
| 3 | g.122284415T>C | CA354159856 | CASR | c.2230T>C (p.Phe744Leu) c.2491T>C (p.Phe831Leu) c.2461T>C (p.Phe821Leu) c.1978T>C (p.Phe660Leu) c.1873T>C (p.Phe625Leu) | |
| 3 | g.122284415T>G | CA354159854 | CASR | c.2230T>G (p.Phe744Val) c.2491T>G (p.Phe831Val) c.2461T>G (p.Phe821Val) c.1978T>G (p.Phe660Val) c.1873T>G (p.Phe625Val) | ClinVar dbSNP |
| 3 | g.122284415T= | CA1397872371 | CASR | c.2230T= (p.Phe744=) c.2491T= (p.Phe831=) c.2461T= (p.Phe821=) c.1978T= (p.Phe660=) c.1873T= (p.Phe625=) | |
| 3 | g.122284416T>A | CA354159858 | CASR | c.2231T>A (p.Phe744Tyr) c.2492T>A (p.Phe831Tyr) c.2462T>A (p.Phe821Tyr) c.1979T>A (p.Phe660Tyr) c.1874T>A (p.Phe625Tyr) | |
| 3 | g.122284416T>C | CA354159857 | CASR | c.2231T>C (p.Phe744Ser) c.2492T>C (p.Phe831Ser) c.2462T>C (p.Phe821Ser) c.1979T>C (p.Phe660Ser) c.1874T>C (p.Phe625Ser) | |
| 3 | g.122284416T>G | CA354159859 | CASR | c.2231T>G (p.Phe744Cys) c.2492T>G (p.Phe831Cys) c.2462T>G (p.Phe821Cys) c.1979T>G (p.Phe660Cys) c.1874T>G (p.Phe625Cys) | |
| 3 | g.122284417C>A | CA354159860 | CASR | c.2232C>A (p.Phe744Leu) c.2493C>A (p.Phe831Leu) c.2463C>A (p.Phe821Leu) c.1980C>A (p.Phe660Leu) c.1875C>A (p.Phe625Leu) | |
| 3 | g.122284417C>G | CA354159861 | CASR | c.2232C>G (p.Phe744Leu) c.2493C>G (p.Phe831Leu) c.2463C>G (p.Phe821Leu) c.1980C>G (p.Phe660Leu) c.1875C>G (p.Phe625Leu) | |
| 3 | g.122284417C>T | CA435425309 | CASR | c.2232C>T (p.Phe744=) c.2493C>T (p.Phe831=) c.2463C>T (p.Phe821=) c.1980C>T (p.Phe660=) c.1875C>T (p.Phe625=) | |
| 3 | g.122284418A= | CA1397872373 | CASR | c.2233A= (p.Ile745=) c.2494A= (p.Ile832=) c.2464A= (p.Ile822=) c.1981A= (p.Ile661=) c.1876A= (p.Ile626=) | |
| 3 | g.122284418A>C | CA354159862 | CASR | c.2233A>C (p.Ile745Leu) c.2494A>C (p.Ile832Leu) c.2464A>C (p.Ile822Leu) c.1981A>C (p.Ile661Leu) c.1876A>C (p.Ile626Leu) | |
| 3 | g.122284418A>G | CA354159863 | CASR | c.2233A>G (p.Ile745Val) c.2494A>G (p.Ile832Val) c.2464A>G (p.Ile822Val) c.1981A>G (p.Ile661Val) c.1876A>G (p.Ile626Val) | ClinVar dbSNP |
| 3 | g.122284418A>T | CA354159864 | CASR | c.2233A>T (p.Ile745Phe) c.2494A>T (p.Ile832Phe) c.2464A>T (p.Ile822Phe) c.1981A>T (p.Ile661Phe) c.1876A>T (p.Ile626Phe) | |
| 3 | g.122284419T>A | CA354159865 | CASR | c.2234T>A (p.Ile745Asn) c.2495T>A (p.Ile832Asn) c.2465T>A (p.Ile822Asn) c.1982T>A (p.Ile661Asn) c.1877T>A (p.Ile626Asn) | |
| 3 | g.122284419T>C | CA354159866 | CASR | c.2234T>C (p.Ile745Thr) c.2495T>C (p.Ile832Thr) c.2465T>C (p.Ile822Thr) c.1982T>C (p.Ile661Thr) c.1877T>C (p.Ile626Thr) | ClinVar dbSNP |
| 3 | g.122284419T>G | CA354159867 | CASR | c.2234T>G (p.Ile745Ser) c.2495T>G (p.Ile832Ser) c.2465T>G (p.Ile822Ser) c.1982T>G (p.Ile661Ser) c.1877T>G (p.Ile626Ser) | |
| 3 | g.122284419T= | CA1397872376 | CASR | c.2234T= (p.Ile745=) c.2495T= (p.Ile832=) c.2465T= (p.Ile822=) c.1982T= (p.Ile661=) c.1877T= (p.Ile626=) | |
| 3 | g.122284420T>A | CA435425167 | CASR | c.2235T>A (p.Ile745=) c.2496T>A (p.Ile832=) c.2466T>A (p.Ile822=) c.1983T>A (p.Ile661=) c.1878T>A (p.Ile626=) | |
| 3 | g.122284420T>C | CA2569828 | CASR | c.2235T>C (p.Ile745=) c.2496T>C (p.Ile832=) c.2466T>C (p.Ile822=) c.1983T>C (p.Ile661=) c.1878T>C (p.Ile626=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284420T>G | CA354159977 | CASR | c.2235T>G (p.Ile745Met) c.2496T>G (p.Ile832Met) c.2466T>G (p.Ile822Met) c.1983T>G (p.Ile661Met) c.1878T>G (p.Ile626Met) | |
| 3 | g.122284420T= | CA1397872379 | CASR | c.2235T= (p.Ile745=) c.2496T= (p.Ile832=) c.2466T= (p.Ile822=) c.1983T= (p.Ile661=) c.1878T= (p.Ile626=) | |
| 3 | g.122284421C>A | CA354159979 | CASR | c.2236C>A (p.Pro746Thr) c.2497C>A (p.Pro833Thr) c.2467C>A (p.Pro823Thr) c.1984C>A (p.Pro662Thr) c.1879C>A (p.Pro627Thr) | |
| 3 | g.122284421C= | CA1397872382 | CASR | c.2236C= (p.Pro746=) c.2497C= (p.Pro833=) c.2467C= (p.Pro823=) c.1984C= (p.Pro662=) c.1879C= (p.Pro627=) | |
| 3 | g.122284421C>G | CA354159981 | CASR | c.2236C>G (p.Pro746Ala) c.2497C>G (p.Pro833Ala) c.2467C>G (p.Pro823Ala) c.1984C>G (p.Pro662Ala) c.1879C>G (p.Pro627Ala) | |
| 3 | g.122284421C>T | CA354159983 | CASR | c.2236C>T (p.Pro746Ser) c.2497C>T (p.Pro833Ser) c.2467C>T (p.Pro823Ser) c.1984C>T (p.Pro662Ser) c.1879C>T (p.Pro627Ser) | ClinVar dbSNP COSMIC |
| 3 | g.122284422C>A | CA354159989 | CASR | c.2237C>A (p.Pro746Gln) c.2498C>A (p.Pro833Gln) c.2468C>A (p.Pro823Gln) c.1985C>A (p.Pro662Gln) c.1880C>A (p.Pro627Gln) | |
| 3 | g.122284422C>G | CA354159985 | CASR | c.2237C>G (p.Pro746Arg) c.2498C>G (p.Pro833Arg) c.2468C>G (p.Pro823Arg) c.1985C>G (p.Pro662Arg) c.1880C>G (p.Pro627Arg) | |
| 3 | g.122284422C>T | CA354159986 | CASR | c.2237C>T (p.Pro746Leu) c.2498C>T (p.Pro833Leu) c.2468C>T (p.Pro823Leu) c.1985C>T (p.Pro662Leu) c.1880C>T (p.Pro627Leu) | |
| 3 | g.122284423A>C | CA435425182 | CASR | c.2238A>C (p.Pro746=) c.2499A>C (p.Pro833=) c.2469A>C (p.Pro823=) c.1986A>C (p.Pro662=) c.1881A>C (p.Pro627=) | |
| 3 | g.122284423A>G | CA435425178 | CASR | c.2238A>G (p.Pro746=) c.2499A>G (p.Pro833=) c.2469A>G (p.Pro823=) c.1986A>G (p.Pro662=) c.1881A>G (p.Pro627=) | |
| 3 | g.122284423A>T | CA435425175 | CASR | c.2238A>T (p.Pro746=) c.2499A>T (p.Pro833=) c.2469A>T (p.Pro823=) c.1986A>T (p.Pro662=) c.1881A>T (p.Pro627=) | |
| 3 | g.122284424G>A | CA354159991 | CASR | c.2239G>A (p.Ala747Thr) c.2500G>A (p.Ala834Thr) c.2470G>A (p.Ala824Thr) c.1987G>A (p.Ala663Thr) c.1882G>A (p.Ala628Thr) | ClinVar dbSNP COSMIC |
| 3 | g.122284424G>C | CA354159993 | CASR | c.2239G>C (p.Ala747Pro) c.2500G>C (p.Ala834Pro) c.2470G>C (p.Ala824Pro) c.1987G>C (p.Ala663Pro) c.1882G>C (p.Ala628Pro) | ClinVar |
| 3 | g.122284424G>T | CA354159995 | CASR | c.2239G>T (p.Ala747Ser) c.2500G>T (p.Ala834Ser) c.2470G>T (p.Ala824Ser) c.1987G>T (p.Ala663Ser) c.1882G>T (p.Ala628Ser) | |
| 3 | g.122284425C>A | CA354159996 | CASR | c.2240C>A (p.Ala747Asp) c.2501C>A (p.Ala834Asp) c.2471C>A (p.Ala824Asp) c.1988C>A (p.Ala663Asp) c.1883C>A (p.Ala628Asp) | |
| 3 | g.122284425C= | CA1397872385 | CASR | c.2240C= (p.Ala747=) c.2501C= (p.Ala834=) c.2471C= (p.Ala824=) c.1988C= (p.Ala663=) c.1883C= (p.Ala628=) | |
| 3 | g.122284425C>G | CA354159998 | CASR | c.2240C>G (p.Ala747Gly) c.2501C>G (p.Ala834Gly) c.2471C>G (p.Ala824Gly) c.1988C>G (p.Ala663Gly) c.1883C>G (p.Ala628Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284425C>T | CA354159999 | CASR | c.2240C>T (p.Ala747Val) c.2501C>T (p.Ala834Val) c.2471C>T (p.Ala824Val) c.1988C>T (p.Ala663Val) c.1883C>T (p.Ala628Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284426C>A | CA435425187 | CASR | c.2241C>A (p.Ala747=) c.2502C>A (p.Ala834=) c.2472C>A (p.Ala824=) c.1989C>A (p.Ala663=) c.1884C>A (p.Ala628=) | |
| 3 | g.122284426C>G | CA435425188 | CASR | c.2241C>G (p.Ala747=) c.2502C>G (p.Ala834=) c.2472C>G (p.Ala824=) c.1989C>G (p.Ala663=) c.1884C>G (p.Ala628=) | |
| 3 | g.122284426C>T | CA435425190 | CASR | c.2241C>T (p.Ala747=) c.2502C>T (p.Ala834=) c.2472C>T (p.Ala824=) c.1989C>T (p.Ala663=) c.1884C>T (p.Ala628=) | ClinVar dbSNP COSMIC |
| 3 | g.122284427T>A | CA354160000 | CASR | c.2242T>A (p.Tyr748Asn) c.2503T>A (p.Tyr835Asn) c.2473T>A (p.Tyr825Asn) c.1990T>A (p.Tyr664Asn) c.1885T>A (p.Tyr629Asn) |