| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284188C>A | CA354159152 | CASR | c.2003C>A (p.Thr668Asn) c.2264C>A (p.Thr755Asn) c.2234C>A (p.Thr745Asn) c.1751C>A (p.Thr584Asn) c.1646C>A (p.Thr549Asn) | ClinVar |
| 3 | g.122284188C>G | CA354159154 | CASR | c.2003C>G (p.Thr668Ser) c.2264C>G (p.Thr755Ser) c.2234C>G (p.Thr745Ser) c.1751C>G (p.Thr584Ser) c.1646C>G (p.Thr549Ser) | |
| 3 | g.122284188C>T | CA354159153 | CASR | c.2003C>T (p.Thr668Ile) c.2264C>T (p.Thr755Ile) c.2234C>T (p.Thr745Ile) c.1751C>T (p.Thr584Ile) c.1646C>T (p.Thr549Ile) | ClinVar gnomAD v4 |
| 3 | g.122284188_122284189del | CA2569797172 | CASR | c.2003_2004del (p.Thr668SerfsTer14) c.2264_2265del (p.Thr755SerfsTer14) c.2234_2235del (p.Thr745SerfsTer14) c.1751_1752del (p.Thr584SerfsTer14) c.1646_1647del (p.Thr549SerfsTer14) | |
| 3 | g.122284189C>A | CA435424738 | CASR | c.2004C>A (p.Thr668=) c.2265C>A (p.Thr755=) c.2235C>A (p.Thr745=) c.1752C>A (p.Thr584=) c.1647C>A (p.Thr549=) | dbSNP |
| 3 | g.122284189C= | CA1397871807 | CASR | c.2004C= (p.Thr668=) c.2265C= (p.Thr755=) c.2235C= (p.Thr745=) c.1752C= (p.Thr584=) c.1647C= (p.Thr549=) | |
| 3 | g.122284189C>G | CA2569797 | CASR | c.2004C>G (p.Thr668=) c.2265C>G (p.Thr755=) c.2235C>G (p.Thr745=) c.1752C>G (p.Thr584=) c.1647C>G (p.Thr549=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284189C>T | CA2569798 | CASR | c.2004C>T (p.Thr668=) c.2265C>T (p.Thr755=) c.2235C>T (p.Thr745=) c.1752C>T (p.Thr584=) c.1647C>T (p.Thr549=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.122284190G>A | CA2569799 | CASR | c.2005G>A (p.Ala669Thr) c.2266G>A (p.Ala756Thr) c.2236G>A (p.Ala746Thr) c.1753G>A (p.Ala585Thr) c.1648G>A (p.Ala550Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284190G>C | CA354159155 | CASR | c.2005G>C (p.Ala669Pro) c.2266G>C (p.Ala756Pro) c.2236G>C (p.Ala746Pro) c.1753G>C (p.Ala585Pro) c.1648G>C (p.Ala550Pro) | |
| 3 | g.122284190G= | CA1397871808 | CASR | c.2005G= (p.Ala669=) c.2266G= (p.Ala756=) c.2236G= (p.Ala746=) c.1753G= (p.Ala585=) c.1648G= (p.Ala550=) | |
| 3 | g.122284190G>T | CA354159156 | CASR | c.2005G>T (p.Ala669Ser) c.2266G>T (p.Ala756Ser) c.2236G>T (p.Ala746Ser) c.1753G>T (p.Ala585Ser) c.1648G>T (p.Ala550Ser) | gnomAD v4 |
| 3 | g.122284191C>A | CA354159157 | CASR | c.2006C>A (p.Ala669Glu) c.2267C>A (p.Ala756Glu) c.2237C>A (p.Ala746Glu) c.1754C>A (p.Ala585Glu) c.1649C>A (p.Ala550Glu) | |
| 3 | g.122284191C= | CA1397871809 | CASR | c.2006C= (p.Ala669=) c.2267C= (p.Ala756=) c.2237C= (p.Ala746=) c.1754C= (p.Ala585=) c.1649C= (p.Ala550=) | |
| 3 | g.122284191C>G | CA354159158 | CASR | c.2006C>G (p.Ala669Gly) c.2267C>G (p.Ala756Gly) c.2237C>G (p.Ala746Gly) c.1754C>G (p.Ala585Gly) c.1649C>G (p.Ala550Gly) | |
| 3 | g.122284191C>T | CA2569800 | CASR | c.2006C>T (p.Ala669Val) c.2267C>T (p.Ala756Val) c.2237C>T (p.Ala746Val) c.1754C>T (p.Ala585Val) c.1649C>T (p.Ala550Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284192G>A | CA2569801 | CASR | c.2007G>A (p.Ala669=) c.2268G>A (p.Ala756=) c.2238G>A (p.Ala746=) c.1755G>A (p.Ala585=) c.1650G>A (p.Ala550=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284192G>C | CA435424745 | CASR | c.2007G>C (p.Ala669=) c.2268G>C (p.Ala756=) c.2238G>C (p.Ala746=) c.1755G>C (p.Ala585=) c.1650G>C (p.Ala550=) | ClinVar |
| 3 | g.122284192G= | CA1397871823 | CASR | c.2007G= (p.Ala669=) c.2268G= (p.Ala756=) c.2238G= (p.Ala746=) c.1755G= (p.Ala585=) c.1650G= (p.Ala550=) | |
| 3 | g.122284192G>T | CA2569802 | CASR | c.2007G>T (p.Ala669=) c.2268G>T (p.Ala756=) c.2238G>T (p.Ala746=) c.1755G>T (p.Ala585=) c.1650G>T (p.Ala550=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284193C>A | CA354159160 | CASR | c.2008C>A (p.Pro670Thr) c.2269C>A (p.Pro757Thr) c.2239C>A (p.Pro747Thr) c.1756C>A (p.Pro586Thr) c.1651C>A (p.Pro551Thr) | gnomAD v4 |
| 3 | g.122284193C= | CA1397871824 | CASR | c.2008C= (p.Pro670=) c.2269C= (p.Pro757=) c.2239C= (p.Pro747=) c.1756C= (p.Pro586=) c.1651C= (p.Pro551=) | |
| 3 | g.122284193C>G | CA354159161 | CASR | c.2008C>G (p.Pro670Ala) c.2269C>G (p.Pro757Ala) c.2239C>G (p.Pro747Ala) c.1756C>G (p.Pro586Ala) c.1651C>G (p.Pro551Ala) | ClinVar dbSNP |
| 3 | g.122284193C>T | CA354159159 | CASR | c.2008C>T (p.Pro670Ser) c.2269C>T (p.Pro757Ser) c.2239C>T (p.Pro747Ser) c.1756C>T (p.Pro586Ser) c.1651C>T (p.Pro551Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284193_122284194delinsT | CA2586972867 | CASR | c.2008_2009delinsT (p.Pro670SerfsTer30) c.2269_2270delinsT (p.Pro757SerfsTer30) c.2239_2240delinsT (p.Pro747SerfsTer30) c.1756_1757delinsT (p.Pro586SerfsTer30) c.1651_1652delinsT (p.Pro551SerfsTer30) | |
| 3 | g.122284197dup | CA545962752 | CASR | c.2012dup (p.Ser672ValfsTer11) c.2273dup (p.Ser759ValfsTer11) c.2243dup (p.Ser749ValfsTer11) c.2243dup (p.Ser749LeufsTer11) c.2273dup (p.Ser759LeufsTer11) c.1760dup (p.Ser588ValfsTer11) c.1655dup (p.Ser553ValfsTer11) | gnomAD v2 gnomAD v4 |
| 3 | g.122284194C>A | CA354159162 | CASR | c.2009C>A (p.Pro670His) c.2270C>A (p.Pro757His) c.2240C>A (p.Pro747His) c.1757C>A (p.Pro586His) c.1652C>A (p.Pro551His) | |
| 3 | g.122284194C>G | CA354159163 | CASR | c.2009C>G (p.Pro670Arg) c.2270C>G (p.Pro757Arg) c.2240C>G (p.Pro747Arg) c.1757C>G (p.Pro586Arg) c.1652C>G (p.Pro551Arg) | ClinVar |
| 3 | g.122284194C>T | CA354159164 | CASR | c.2009C>T (p.Pro670Leu) c.2270C>T (p.Pro757Leu) c.2240C>T (p.Pro747Leu) c.1757C>T (p.Pro586Leu) c.1652C>T (p.Pro551Leu) | COSMIC |
| 3 | g.122284194_122284196delinsCCC | CA1397871827 | CASR | c.2009_2011delinsCCC (p.Pro670=) c.2270_2272delinsCCC (p.Pro757=) c.2240_2242delinsCCC (p.Pro747=) c.1757_1759delinsCCC (p.Pro586=) c.1652_1654delinsCCC (p.Pro551=) | |
| 3 | g.122284195C>A | CA435424753 | CASR | c.2010C>A (p.Pro670=) c.2271C>A (p.Pro757=) c.2241C>A (p.Pro747=) c.1758C>A (p.Pro586=) c.1653C>A (p.Pro551=) | dbSNP gnomAD v4 |
| 3 | g.122284195C= | CA1397871831 | CASR | c.2010C= (p.Pro670=) c.2271C= (p.Pro757=) c.2241C= (p.Pro747=) c.1758C= (p.Pro586=) c.1653C= (p.Pro551=) | |
| 3 | g.122284195C>G | CA435424750 | CASR | c.2010C>G (p.Pro670=) c.2271C>G (p.Pro757=) c.2241C>G (p.Pro747=) c.1758C>G (p.Pro586=) c.1653C>G (p.Pro551=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284195C>T | CA435424755 | CASR | c.2010C>T (p.Pro670=) c.2271C>T (p.Pro757=) c.2241C>T (p.Pro747=) c.1758C>T (p.Pro586=) c.1653C>T (p.Pro551=) | gnomAD v4 |
| 3 | g.122284195_122284196delinsT | CA351387 | CASR | c.2010_2011delinsT (p.Pro671ArgfsTer29) c.2271_2272delinsT (p.Pro758ArgfsTer29) c.2241_2242delinsT (p.Pro748ArgfsTer29) c.2241_2242delinsT (p.Ser749GlnfsTer28) c.2271_2272delinsT (p.Ser759GlnfsTer28) c.1758_1759delinsT (p.Pro587ArgfsTer29) c.1653_1654delinsT (p.Pro552ArgfsTer29) | ClinVar dbSNP |
| 3 | g.122284196C>A | CA354159165 | CASR | c.2011C>A (p.Pro671Thr) c.2272C>A (p.Pro758Thr) c.2242C>A (p.Pro748Thr) c.1759C>A (p.Pro587Thr) c.1654C>A (p.Pro552Thr) | |
| 3 | g.122284196C= | CA1397871839 | CASR | c.2011C= (p.Pro671=) c.2272C= (p.Pro758=) c.2242C= (p.Pro748=) c.1759C= (p.Pro587=) c.1654C= (p.Pro552=) | |
| 3 | g.122284196C>G | CA354159166 | CASR | c.2011C>G (p.Pro671Ala) c.2272C>G (p.Pro758Ala) c.2242C>G (p.Pro748Ala) c.1759C>G (p.Pro587Ala) c.1654C>G (p.Pro552Ala) | dbSNP |
| 3 | g.122284196C>T | CA354159167 | CASR | c.2011C>T (p.Pro671Ser) c.2272C>T (p.Pro758Ser) c.2242C>T (p.Pro748Ser) c.1759C>T (p.Pro587Ser) c.1654C>T (p.Pro552Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284196_122284197insG | CA82748855 | CASR | c.2011_2012insG (p.Pro671ArgfsTer12) c.2272_2273insG (p.Pro758ArgfsTer12) c.2242_2243insG (p.Pro748ArgfsTer12) c.1759_1760insG (p.Pro587ArgfsTer12) c.1654_1655insG (p.Pro552ArgfsTer12) | |
| 3 | g.122284197C>A | CA213582 | CASR | c.2012C>A (p.Pro671Gln) c.2273C>A (p.Pro758Gln) c.2243C>A (p.Pro748Gln) c.2243C>A (p.Pro748His) c.2273C>A (p.Pro758His) c.1760C>A (p.Pro587Gln) c.1655C>A (p.Pro552Gln) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284197C= | CA1397871864 | CASR | c.2012C= (p.Pro671=) c.2273C= (p.Pro758=) c.2243C= (p.Pro748=) c.1760C= (p.Pro587=) c.1655C= (p.Pro552=) | |
| 3 | g.122284197C>G | CA354159168 | CASR | c.2012C>G (p.Pro671Arg) c.2273C>G (p.Pro758Arg) c.2243C>G (p.Pro748Arg) c.1760C>G (p.Pro587Arg) c.1655C>G (p.Pro552Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284197C>T | CA354159169 | CASR | c.2012C>T (p.Pro671Leu) c.2273C>T (p.Pro758Leu) c.2243C>T (p.Pro748Leu) c.1760C>T (p.Pro587Leu) c.1655C>T (p.Pro552Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284197_122284198delinsAC | CA213581 | CASR | c.2012_2013delinsAC (p.Pro671His) c.2273_2274delinsAC (p.Pro758His) c.2243_2244delinsAC (p.Pro748His) c.1760_1761delinsAC (p.Pro587His) c.1655_1656delinsAC (p.Pro552His) | |
| 3 | g.122284197_122284198delinsCG | CA1397871858 | CASR | c.2012_2013delinsCG (p.Pro671=) c.2273_2274delinsCG (p.Pro758=) c.2243_2244delinsCG (p.Pro748=) c.1760_1761delinsCG (p.Pro587=) c.1655_1656delinsCG (p.Pro552=) | |
| 3 | g.122284198del | CA435424761 | CASR | c.2013del (p.Ser672GlnfsTer28) c.2274del (p.Ser759GlnfsTer28) c.2244del (p.Ser749GlnfsTer28) c.1761del (p.Ser588GlnfsTer28) c.1656del (p.Ser553GlnfsTer28) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284198G>A | CA435424757 | CASR | c.2013G>A (p.Pro671=) c.2274G>A (p.Pro758=) c.2244G>A (p.Pro748=) c.1761G>A (p.Pro587=) c.1656G>A (p.Pro552=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284198G>C | CA179844 | CASR | c.2013G>C (p.Pro671=) c.2274G>C (p.Pro758=) c.2244G>C (p.Pro748=) c.1761G>C (p.Pro587=) c.1656G>C (p.Pro552=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284198G= | CA10582122 | CASR | c.2013G= (p.Pro671=) c.2274G= (p.Pro758=) c.2244G= (p.Pro748=) c.1761G= (p.Pro587=) c.1656G= (p.Pro552=) | |
| 3 | g.122284198G>T | CA435424760 | CASR | c.2013G>T (p.Pro671=) c.2274G>T (p.Pro758=) c.2244G>T (p.Pro748=) c.1761G>T (p.Pro587=) c.1656G>T (p.Pro552=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284198delinsCC | CA915941532 | CASR | c.2013delinsCC (p.Ser672LeufsTer11) c.2274delinsCC (p.Ser759LeufsTer11) c.2244delinsCC (p.Ser749LeufsTer11) c.1761delinsCC (p.Ser588LeufsTer11) c.1656delinsCC (p.Ser553LeufsTer11) | ClinVar dbSNP |
| 3 | g.122284198dup | CA658657330 | CASR | c.2013dup (p.Ser672ValfsTer11) c.2274dup (p.Ser759ValfsTer11) c.2244dup (p.Ser749ValfsTer11) c.1761dup (p.Ser588ValfsTer11) c.1656dup (p.Ser553ValfsTer11) | dbSNP |
| 3 | g.122284198_122284199delinsCG | CA2573136461 | CASR | c.2013_2014delinsCG (p.Ser672Ala) c.2274_2275delinsCG (p.Ser759Ala) c.2244_2245delinsCG (p.Ser749Ala) c.1761_1762delinsCG (p.Ser588Ala) c.1656_1657delinsCG (p.Ser553Ala) | ClinVar dbSNP |
| 3 | g.122284199T>A | CA354159171 | CASR | c.2014T>A (p.Ser672Thr) c.2275T>A (p.Ser759Thr) c.2245T>A (p.Ser749Thr) c.1762T>A (p.Ser588Thr) c.1657T>A (p.Ser553Thr) | |
| 3 | g.122284199T>C | CA354159170 | CASR | c.2014T>C (p.Ser672Pro) c.2275T>C (p.Ser759Pro) c.2245T>C (p.Ser749Pro) c.1762T>C (p.Ser588Pro) c.1657T>C (p.Ser553Pro) | |
| 3 | g.122284199T>G | CA2569803 | CASR | c.2014T>G (p.Ser672Ala) c.2275T>G (p.Ser759Ala) c.2245T>G (p.Ser749Ala) c.1762T>G (p.Ser588Ala) c.1657T>G (p.Ser553Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284199T= | CA1397871886 | CASR | c.2014T= (p.Ser672=) c.2275T= (p.Ser759=) c.2245T= (p.Ser749=) c.1762T= (p.Ser588=) c.1657T= (p.Ser553=) | |
| 3 | g.122284199_122284200del | CA1052944786 | CASR | c.2014_2015del (p.Ser672LysfsTer10) c.2275_2276del (p.Ser759LysfsTer10) c.2245_2246del (p.Ser749LysfsTer10) c.1762_1763del (p.Ser588LysfsTer10) c.1657_1658del (p.Ser553LysfsTer10) | gnomAD v3 gnomAD v4 |
| 3 | g.122284200C>A | CA354159172 | CASR | c.2015C>A (p.Ser672Ter) c.2276C>A (p.Ser759Ter) c.2246C>A (p.Ser749Ter) c.1763C>A (p.Ser588Ter) c.1658C>A (p.Ser553Ter) | |
| 3 | g.122284200C>G | CA354159173 | CASR | c.2015C>G (p.Ser672Ter) c.2276C>G (p.Ser759Ter) c.2246C>G (p.Ser749Ter) c.1763C>G (p.Ser588Ter) c.1658C>G (p.Ser553Ter) | |
| 3 | g.122284200C>T | CA354159174 | CASR | c.2015C>T (p.Ser672Leu) c.2276C>T (p.Ser759Leu) c.2246C>T (p.Ser749Leu) c.1763C>T (p.Ser588Leu) c.1658C>T (p.Ser553Leu) | |
| 3 | g.122284201A= | CA1397871888 | CASR | c.2016A= (p.Ser672=) c.2277A= (p.Ser759=) c.2247A= (p.Ser749=) c.1764A= (p.Ser588=) c.1659A= (p.Ser553=) | |
| 3 | g.122284201A>C | CA435424767 | CASR | c.2016A>C (p.Ser672=) c.2277A>C (p.Ser759=) c.2247A>C (p.Ser749=) c.1764A>C (p.Ser588=) c.1659A>C (p.Ser553=) | ClinVar dbSNP |
| 3 | g.122284201A>G | CA2569804 | CASR | c.2016A>G (p.Ser672=) c.2277A>G (p.Ser759=) c.2247A>G (p.Ser749=) c.1764A>G (p.Ser588=) c.1659A>G (p.Ser553=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284201A>T | CA435424768 | CASR | c.2016A>T (p.Ser672=) c.2277A>T (p.Ser759=) c.2247A>T (p.Ser749=) c.1764A>T (p.Ser588=) c.1659A>T (p.Ser553=) | |
| 3 | g.122284202A>C | CA354159175 | CASR | c.2017A>C (p.Ser673Arg) c.2278A>C (p.Ser760Arg) c.2248A>C (p.Ser750Arg) c.1765A>C (p.Ser589Arg) c.1660A>C (p.Ser554Arg) | |
| 3 | g.122284202A>G | CA354159176 | CASR | c.2017A>G (p.Ser673Gly) c.2278A>G (p.Ser760Gly) c.2248A>G (p.Ser750Gly) c.1765A>G (p.Ser589Gly) c.1660A>G (p.Ser554Gly) | ClinVar |
| 3 | g.122284202A>T | CA354159177 | CASR | c.2017A>T (p.Ser673Cys) c.2278A>T (p.Ser760Cys) c.2248A>T (p.Ser750Cys) c.1765A>T (p.Ser589Cys) c.1660A>T (p.Ser554Cys) | |
| 3 | g.122284203G>A | CA354159178 | CASR | c.2018G>A (p.Ser673Asn) c.2279G>A (p.Ser760Asn) c.2249G>A (p.Ser750Asn) c.1766G>A (p.Ser589Asn) c.1661G>A (p.Ser554Asn) | |
| 3 | g.122284203G>C | CA354159179 | CASR | c.2018G>C (p.Ser673Thr) c.2279G>C (p.Ser760Thr) c.2249G>C (p.Ser750Thr) c.1766G>C (p.Ser589Thr) c.1661G>C (p.Ser554Thr) | |
| 3 | g.122284203G>T | CA354159180 | CASR | c.2018G>T (p.Ser673Ile) c.2279G>T (p.Ser760Ile) c.2249G>T (p.Ser750Ile) c.1766G>T (p.Ser589Ile) c.1661G>T (p.Ser554Ile) | |
| 3 | g.122284204C>A | CA354159181 | CASR | c.2019C>A (p.Ser673Arg) c.2280C>A (p.Ser760Arg) c.2250C>A (p.Ser750Arg) c.1767C>A (p.Ser589Arg) c.1662C>A (p.Ser554Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284204C= | CA1397871895 | CASR | c.2019C= (p.Ser673=) c.2280C= (p.Ser760=) c.2250C= (p.Ser750=) c.1767C= (p.Ser589=) c.1662C= (p.Ser554=) | |
| 3 | g.122284204C>G | CA354159182 | CASR | c.2019C>G (p.Ser673Arg) c.2280C>G (p.Ser760Arg) c.2250C>G (p.Ser750Arg) c.1767C>G (p.Ser589Arg) c.1662C>G (p.Ser554Arg) | |
| 3 | g.122284204C>T | CA435424772 | CASR | c.2019C>T (p.Ser673=) c.2280C>T (p.Ser760=) c.2250C>T (p.Ser750=) c.1767C>T (p.Ser589=) c.1662C>T (p.Ser554=) | ClinVar dbSNP |
| 3 | g.122284205T>A | CA354159185 | CASR | c.2020T>A (p.Tyr674Asn) c.2281T>A (p.Tyr761Asn) c.2251T>A (p.Tyr751Asn) c.1768T>A (p.Tyr590Asn) c.1663T>A (p.Tyr555Asn) | |
| 3 | g.122284205T>C | CA354159184 | CASR | c.2020T>C (p.Tyr674His) c.2281T>C (p.Tyr761His) c.2251T>C (p.Tyr751His) c.1768T>C (p.Tyr590His) c.1663T>C (p.Tyr555His) | |
| 3 | g.122284205T>G | CA354159183 | CASR | c.2020T>G (p.Tyr674Asp) c.2281T>G (p.Tyr761Asp) c.2251T>G (p.Tyr751Asp) c.1768T>G (p.Tyr590Asp) c.1663T>G (p.Tyr555Asp) | |
| 3 | g.122284206A>C | CA354159186 | CASR | c.2021A>C (p.Tyr674Ser) c.2282A>C (p.Tyr761Ser) c.2252A>C (p.Tyr751Ser) c.1769A>C (p.Tyr590Ser) c.1664A>C (p.Tyr555Ser) | |
| 3 | g.122284206A>G | CA354159188 | CASR | c.2021A>G (p.Tyr674Cys) c.2282A>G (p.Tyr761Cys) c.2252A>G (p.Tyr751Cys) c.1769A>G (p.Tyr590Cys) c.1664A>G (p.Tyr555Cys) | COSMIC |
| 3 | g.122284206A>T | CA354159187 | CASR | c.2021A>T (p.Tyr674Phe) c.2282A>T (p.Tyr761Phe) c.2252A>T (p.Tyr751Phe) c.1769A>T (p.Tyr590Phe) c.1664A>T (p.Tyr555Phe) | |
| 3 | g.122284207C>A | CA354159189 | CASR | c.2022C>A (p.Tyr674Ter) c.2283C>A (p.Tyr761Ter) c.2253C>A (p.Tyr751Ter) c.1770C>A (p.Tyr590Ter) c.1665C>A (p.Tyr555Ter) | |
| 3 | g.122284207C= | CA1397871897 | CASR | c.2022C= (p.Tyr674=) c.2283C= (p.Tyr761=) c.2253C= (p.Tyr751=) c.1770C= (p.Tyr590=) c.1665C= (p.Tyr555=) | |
| 3 | g.122284207C>G | CA354159190 | CASR | c.2022C>G (p.Tyr674Ter) c.2283C>G (p.Tyr761Ter) c.2253C>G (p.Tyr751Ter) c.1770C>G (p.Tyr590Ter) c.1665C>G (p.Tyr555Ter) | |
| 3 | g.122284207C>T | CA435424775 | CASR | c.2022C>T (p.Tyr674=) c.2283C>T (p.Tyr761=) c.2253C>T (p.Tyr751=) c.1770C>T (p.Tyr590=) c.1665C>T (p.Tyr555=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284208del | CA2499216412 | CASR | c.2023del (p.Arg675AlafsTer25) c.2284del (p.Arg762AlafsTer25) c.2254del (p.Arg752AlafsTer25) c.1771del (p.Arg591AlafsTer25) c.1666del (p.Arg556AlafsTer25) | ClinVar dbSNP |
| 3 | g.122284208C>A | CA354159191 | CASR | c.2023C>A (p.Arg675Ser) c.2284C>A (p.Arg762Ser) c.2254C>A (p.Arg752Ser) c.1771C>A (p.Arg591Ser) c.1666C>A (p.Arg556Ser) | ClinVar dbSNP |
| 3 | g.122284208C= | CA1397871904 | CASR | c.2023C= (p.Arg675=) c.2284C= (p.Arg762=) c.2254C= (p.Arg752=) c.1771C= (p.Arg591=) c.1666C= (p.Arg556=) | |
| 3 | g.122284208C>G | CA354159192 | CASR | c.2023C>G (p.Arg675Gly) c.2284C>G (p.Arg762Gly) c.2254C>G (p.Arg752Gly) c.1771C>G (p.Arg591Gly) c.1666C>G (p.Arg556Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284208C>T | CA213584 | CASR | c.2023C>T (p.Arg675Cys) c.2284C>T (p.Arg762Cys) c.2254C>T (p.Arg752Cys) c.1771C>T (p.Arg591Cys) c.1666C>T (p.Arg556Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284209G>A | CA2569805 | CASR | c.2024G>A (p.Arg675His) c.2285G>A (p.Arg762His) c.2255G>A (p.Arg752His) c.1772G>A (p.Arg591His) c.1667G>A (p.Arg556His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284209G>C | CA354159193 | CASR | c.2024G>C (p.Arg675Pro) c.2285G>C (p.Arg762Pro) c.2255G>C (p.Arg752Pro) c.1772G>C (p.Arg591Pro) c.1667G>C (p.Arg556Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284209G= | CA1397871911 | CASR | c.2024G= (p.Arg675=) c.2285G= (p.Arg762=) c.2255G= (p.Arg752=) c.1772G= (p.Arg591=) c.1667G= (p.Arg556=) | |
| 3 | g.122284209G>T | CA354159194 | CASR | c.2024G>T (p.Arg675Leu) c.2285G>T (p.Arg762Leu) c.2255G>T (p.Arg752Leu) c.1772G>T (p.Arg591Leu) c.1667G>T (p.Arg556Leu) | gnomAD v4 |
| 3 | g.122284210C>A | CA435424776 | CASR | c.2025C>A (p.Arg675=) c.2286C>A (p.Arg762=) c.2256C>A (p.Arg752=) c.1773C>A (p.Arg591=) c.1668C>A (p.Arg556=) | ClinVar dbSNP |
| 3 | g.122284210C= | CA1397871913 | CASR | c.2025C= (p.Arg675=) c.2286C= (p.Arg762=) c.2256C= (p.Arg752=) c.1773C= (p.Arg591=) c.1668C= (p.Arg556=) | |
| 3 | g.122284210C>G | CA82748889 | CASR | c.2025C>G (p.Arg675=) c.2286C>G (p.Arg762=) c.2256C>G (p.Arg752=) c.1773C>G (p.Arg591=) c.1668C>G (p.Arg556=) | dbSNP |
| 3 | g.122284210C>T | CA435424777 | CASR | c.2025C>T (p.Arg675=) c.2286C>T (p.Arg762=) c.2256C>T (p.Arg752=) c.1773C>T (p.Arg591=) c.1668C>T (p.Arg556=) | |
| 3 | g.122284211A>C | CA354159195 | CASR | c.2026A>C (p.Asn676His) c.2287A>C (p.Asn763His) c.2257A>C (p.Asn753His) c.1774A>C (p.Asn592His) c.1669A>C (p.Asn557His) | |
| 3 | g.122284211A>G | CA354159196 | CASR | c.2026A>G (p.Asn676Asp) c.2287A>G (p.Asn763Asp) c.2257A>G (p.Asn753Asp) c.1774A>G (p.Asn592Asp) c.1669A>G (p.Asn557Asp) | |
| 3 | g.122284211A>T | CA354159197 | CASR | c.2026A>T (p.Asn676Tyr) c.2287A>T (p.Asn763Tyr) c.2257A>T (p.Asn753Tyr) c.1774A>T (p.Asn592Tyr) c.1669A>T (p.Asn557Tyr) | |
| 3 | g.122284212A= | CA1397871920 | CASR | c.2027A= (p.Asn676=) c.2288A= (p.Asn763=) c.2258A= (p.Asn753=) c.1775A= (p.Asn592=) c.1670A= (p.Asn557=) | |
| 3 | g.122284212A>C | CA354159200 | CASR | c.2027A>C (p.Asn676Thr) c.2288A>C (p.Asn763Thr) c.2258A>C (p.Asn753Thr) c.1775A>C (p.Asn592Thr) c.1670A>C (p.Asn557Thr) | |
| 3 | g.122284212A>G | CA354159199 | CASR | c.2027A>G (p.Asn676Ser) c.2288A>G (p.Asn763Ser) c.2258A>G (p.Asn753Ser) c.1775A>G (p.Asn592Ser) c.1670A>G (p.Asn557Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284212A>T | CA354159198 | CASR | c.2027A>T (p.Asn676Ile) c.2288A>T (p.Asn763Ile) c.2258A>T (p.Asn753Ile) c.1775A>T (p.Asn592Ile) c.1670A>T (p.Asn557Ile) | gnomAD v4 |
| 3 | g.122284212_122284213delinsAC | CA1397871923 | CASR | c.2027_2028delinsAC (p.Asn676=) c.2288_2289delinsAC (p.Asn763=) c.2258_2259delinsAC (p.Asn753=) c.1775_1776delinsAC (p.Asn592=) c.1670_1671delinsAC (p.Asn557=) | |
| 3 | g.122284213C>A | CA354159201 | CASR | c.2028C>A (p.Asn676Lys) c.2289C>A (p.Asn763Lys) c.2259C>A (p.Asn753Lys) c.1776C>A (p.Asn592Lys) c.1671C>A (p.Asn557Lys) | |
| 3 | g.122284213C>G | CA354159202 | CASR | c.2028C>G (p.Asn676Lys) c.2289C>G (p.Asn763Lys) c.2259C>G (p.Asn753Lys) c.1776C>G (p.Asn592Lys) c.1671C>G (p.Asn557Lys) | |
| 3 | g.122284213C>T | CA435424783 | CASR | c.2028C>T (p.Asn676=) c.2289C>T (p.Asn763=) c.2259C>T (p.Asn753=) c.1776C>T (p.Asn592=) c.1671C>T (p.Asn557=) | gnomAD v4 |
| 3 | g.122284214del | CA1397871925 | CASR | c.2029del (p.Gln677ArgfsTer23) c.2290del (p.Gln764ArgfsTer23) c.2260del (p.Gln754ArgfsTer23) c.1777del (p.Gln593ArgfsTer23) c.1672del (p.Gln558ArgfsTer23) | dbSNP |
| 3 | g.122284214C>A | CA354159203 | CASR | c.2029C>A (p.Gln677Lys) c.2290C>A (p.Gln764Lys) c.2260C>A (p.Gln754Lys) c.1777C>A (p.Gln593Lys) c.1672C>A (p.Gln558Lys) | |
| 3 | g.122284214C>G | CA354159205 | CASR | c.2029C>G (p.Gln677Glu) c.2290C>G (p.Gln764Glu) c.2260C>G (p.Gln754Glu) c.1777C>G (p.Gln593Glu) c.1672C>G (p.Gln558Glu) | |
| 3 | g.122284214C>T | CA354159207 | CASR | c.2029C>T (p.Gln677Ter) c.2290C>T (p.Gln764Ter) c.2260C>T (p.Gln754Ter) c.1777C>T (p.Gln593Ter) c.1672C>T (p.Gln558Ter) | |
| 3 | g.122284215A= | CA1397871928 | CASR | c.2030A= (p.Gln677=) c.2291A= (p.Gln764=) c.2261A= (p.Gln754=) c.1778A= (p.Gln593=) c.1673A= (p.Gln558=) | |
| 3 | g.122284215A>C | CA354159209 | CASR | c.2030A>C (p.Gln677Pro) c.2291A>C (p.Gln764Pro) c.2261A>C (p.Gln754Pro) c.1778A>C (p.Gln593Pro) c.1673A>C (p.Gln558Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284215A>G | CA2569806 | CASR | c.2030A>G (p.Gln677Arg) c.2291A>G (p.Gln764Arg) c.2261A>G (p.Gln754Arg) c.1778A>G (p.Gln593Arg) c.1673A>G (p.Gln558Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284215A>T | CA354159210 | CASR | c.2030A>T (p.Gln677Leu) c.2291A>T (p.Gln764Leu) c.2261A>T (p.Gln754Leu) c.1778A>T (p.Gln593Leu) c.1673A>T (p.Gln558Leu) | gnomAD v4 |
| 3 | g.122284216G>A | CA435424786 | CASR | c.2031G>A (p.Gln677=) c.2292G>A (p.Gln764=) c.2262G>A (p.Gln754=) c.1779G>A (p.Gln593=) c.1674G>A (p.Gln558=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284216G>C | CA354159212 | CASR | c.2031G>C (p.Gln677His) c.2292G>C (p.Gln764His) c.2262G>C (p.Gln754His) c.1779G>C (p.Gln593His) c.1674G>C (p.Gln558His) | dbSNP |
| 3 | g.122284216G= | CA1397871932 | CASR | c.2031G= (p.Gln677=) c.2292G= (p.Gln764=) c.2262G= (p.Gln754=) c.1779G= (p.Gln593=) c.1674G= (p.Gln558=) | |
| 3 | g.122284216G>T | CA354159214 | CASR | c.2031G>T (p.Gln677His) c.2292G>T (p.Gln764His) c.2262G>T (p.Gln754His) c.1779G>T (p.Gln593His) c.1674G>T (p.Gln558His) | gnomAD v4 |
| 3 | g.122284217G>A | CA354159215 | CASR | c.2032G>A (p.Glu678Lys) c.2293G>A (p.Glu765Lys) c.2263G>A (p.Glu755Lys) c.1780G>A (p.Glu594Lys) c.1675G>A (p.Glu559Lys) | |
| 3 | g.122284217G>C | CA354159217 | CASR | c.2032G>C (p.Glu678Gln) c.2293G>C (p.Glu765Gln) c.2263G>C (p.Glu755Gln) c.1780G>C (p.Glu594Gln) c.1675G>C (p.Glu559Gln) | |
| 3 | g.122284217G>T | CA354159218 | CASR | c.2032G>T (p.Glu678Ter) c.2293G>T (p.Glu765Ter) c.2263G>T (p.Glu755Ter) c.1780G>T (p.Glu594Ter) c.1675G>T (p.Glu559Ter) | |
| 3 | g.122284218A= | CA1397871935 | CASR | c.2033A= (p.Glu678=) c.2294A= (p.Glu765=) c.2264A= (p.Glu755=) c.1781A= (p.Glu594=) c.1676A= (p.Glu559=) | |
| 3 | g.122284218A>C | CA354159223 | CASR | c.2033A>C (p.Glu678Ala) c.2294A>C (p.Glu765Ala) c.2264A>C (p.Glu755Ala) c.1781A>C (p.Glu594Ala) c.1676A>C (p.Glu559Ala) | |
| 3 | g.122284218A>G | CA354159225 | CASR | c.2033A>G (p.Glu678Gly) c.2294A>G (p.Glu765Gly) c.2264A>G (p.Glu755Gly) c.1781A>G (p.Glu594Gly) c.1676A>G (p.Glu559Gly) | ClinVar dbSNP |
| 3 | g.122284218A>T | CA354159221 | CASR | c.2033A>T (p.Glu678Val) c.2294A>T (p.Glu765Val) c.2264A>T (p.Glu755Val) c.1781A>T (p.Glu594Val) c.1676A>T (p.Glu559Val) | |
| 3 | g.122284219G>A | CA435424788 | CASR | c.2034G>A (p.Glu678=) c.2295G>A (p.Glu765=) c.2265G>A (p.Glu755=) c.1782G>A (p.Glu594=) c.1677G>A (p.Glu559=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284219G>C | CA354159227 | CASR | c.2034G>C (p.Glu678Asp) c.2295G>C (p.Glu765Asp) c.2265G>C (p.Glu755Asp) c.1782G>C (p.Glu594Asp) c.1677G>C (p.Glu559Asp) | gnomAD v4 |
| 3 | g.122284219G= | CA1397871942 | CASR | c.2034G= (p.Glu678=) c.2295G= (p.Glu765=) c.2265G= (p.Glu755=) c.1782G= (p.Glu594=) c.1677G= (p.Glu559=) | |
| 3 | g.122284219G>T | CA2569807 | CASR | c.2034G>T (p.Glu678Asp) c.2295G>T (p.Glu765Asp) c.2265G>T (p.Glu755Asp) c.1782G>T (p.Glu594Asp) c.1677G>T (p.Glu559Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284220C>A | CA354159230 | CASR | c.2035C>A (p.Leu679Met) c.2296C>A (p.Leu766Met) c.2266C>A (p.Leu756Met) c.1783C>A (p.Leu595Met) c.1678C>A (p.Leu560Met) | |
| 3 | g.122284220C>G | CA354159232 | CASR | c.2035C>G (p.Leu679Val) c.2296C>G (p.Leu766Val) c.2266C>G (p.Leu756Val) c.1783C>G (p.Leu595Val) c.1678C>G (p.Leu560Val) | |
| 3 | g.122284220C>T | CA435424791 | CASR | c.2035C>T (p.Leu679=) c.2296C>T (p.Leu766=) c.2266C>T (p.Leu756=) c.1783C>T (p.Leu595=) c.1678C>T (p.Leu560=) | gnomAD v4 |
| 3 | g.122284221T>A | CA354159235 | CASR | c.2036T>A (p.Leu679Gln) c.2297T>A (p.Leu766Gln) c.2267T>A (p.Leu756Gln) c.1784T>A (p.Leu595Gln) c.1679T>A (p.Leu560Gln) | |
| 3 | g.122284221T>C | CA354159236 | CASR | c.2036T>C (p.Leu679Pro) c.2297T>C (p.Leu766Pro) c.2267T>C (p.Leu756Pro) c.1784T>C (p.Leu595Pro) c.1679T>C (p.Leu560Pro) | |
| 3 | g.122284221T>G | CA354159237 | CASR | c.2036T>G (p.Leu679Arg) c.2297T>G (p.Leu766Arg) c.2267T>G (p.Leu756Arg) c.1784T>G (p.Leu595Arg) c.1679T>G (p.Leu560Arg) | |
| 3 | g.122284222G>A | CA435424795 | CASR | c.2037G>A (p.Leu679=) c.2298G>A (p.Leu766=) c.2268G>A (p.Leu756=) c.1785G>A (p.Leu595=) c.1680G>A (p.Leu560=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284222G>C | CA435424796 | CASR | c.2037G>C (p.Leu679=) c.2298G>C (p.Leu766=) c.2268G>C (p.Leu756=) c.1785G>C (p.Leu595=) c.1680G>C (p.Leu560=) | |
| 3 | g.122284222G>T | CA435424797 | CASR | c.2037G>T (p.Leu679=) c.2298G>T (p.Leu766=) c.2268G>T (p.Leu756=) c.1785G>T (p.Leu595=) c.1680G>T (p.Leu560=) | ClinVar gnomAD v4 |
| 3 | g.122284223G>A | CA354159239 | CASR | c.2038G>A (p.Glu680Lys) c.2299G>A (p.Glu767Lys) c.2269G>A (p.Glu757Lys) c.1786G>A (p.Glu596Lys) c.1681G>A (p.Glu561Lys) | ClinVar dbSNP |
| 3 | g.122284223G>C | CA354159242 | CASR | c.2038G>C (p.Glu680Gln) c.2299G>C (p.Glu767Gln) c.2269G>C (p.Glu757Gln) c.1786G>C (p.Glu596Gln) c.1681G>C (p.Glu561Gln) | |
| 3 | g.122284223G= | CA1397871945 | CASR | c.2038G= (p.Glu680=) c.2299G= (p.Glu767=) c.2269G= (p.Glu757=) c.1786G= (p.Glu596=) c.1681G= (p.Glu561=) | |
| 3 | g.122284223G>T | CA354159244 | CASR | c.2038G>T (p.Glu680Ter) c.2299G>T (p.Glu767Ter) c.2269G>T (p.Glu757Ter) c.1786G>T (p.Glu596Ter) c.1681G>T (p.Glu561Ter) | |
| 3 | g.122284224A>C | CA354159246 | CASR | c.2039A>C (p.Glu680Ala) c.2300A>C (p.Glu767Ala) c.2270A>C (p.Glu757Ala) c.1787A>C (p.Glu596Ala) c.1682A>C (p.Glu561Ala) | |
| 3 | g.122284224A>G | CA354159248 | CASR | c.2039A>G (p.Glu680Gly) c.2300A>G (p.Glu767Gly) c.2270A>G (p.Glu757Gly) c.1787A>G (p.Glu596Gly) c.1682A>G (p.Glu561Gly) | |
| 3 | g.122284224A>T | CA354159250 | CASR | c.2039A>T (p.Glu680Val) c.2300A>T (p.Glu767Val) c.2270A>T (p.Glu757Val) c.1787A>T (p.Glu596Val) c.1682A>T (p.Glu561Val) | |
| 3 | g.122284225G>A | CA435424799 | CASR | c.2040G>A (p.Glu680=) c.2301G>A (p.Glu767=) c.2271G>A (p.Glu757=) c.1788G>A (p.Glu596=) c.1683G>A (p.Glu561=) | |
| 3 | g.122284225G>C | CA354159252 | CASR | c.2040G>C (p.Glu680Asp) c.2301G>C (p.Glu767Asp) c.2271G>C (p.Glu757Asp) c.1788G>C (p.Glu596Asp) c.1683G>C (p.Glu561Asp) | |
| 3 | g.122284225G>T | CA354159253 | CASR | c.2040G>T (p.Glu680Asp) c.2301G>T (p.Glu767Asp) c.2271G>T (p.Glu757Asp) c.1788G>T (p.Glu596Asp) c.1683G>T (p.Glu561Asp) | gnomAD v4 |
| 3 | g.122284226G>A | CA354159254 | CASR | c.2041G>A (p.Asp681Asn) c.2302G>A (p.Asp768Asn) c.2272G>A (p.Asp758Asn) c.1789G>A (p.Asp597Asn) c.1684G>A (p.Asp562Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284226G>C | CA354159256 | CASR | c.2041G>C (p.Asp681His) c.2302G>C (p.Asp768His) c.2272G>C (p.Asp758His) c.1789G>C (p.Asp597His) c.1684G>C (p.Asp562His) | |
| 3 | g.122284226G= | CA1397871947 | CASR | c.2041G= (p.Asp681=) c.2302G= (p.Asp768=) c.2272G= (p.Asp758=) c.1789G= (p.Asp597=) c.1684G= (p.Asp562=) | |
| 3 | g.122284226G>T | CA354159257 | CASR | c.2041G>T (p.Asp681Tyr) c.2302G>T (p.Asp768Tyr) c.2272G>T (p.Asp758Tyr) c.1789G>T (p.Asp597Tyr) c.1684G>T (p.Asp562Tyr) | |
| 3 | g.122284227A>C | CA354159259 | CASR | c.2042A>C (p.Asp681Ala) c.2303A>C (p.Asp768Ala) c.2273A>C (p.Asp758Ala) c.1790A>C (p.Asp597Ala) c.1685A>C (p.Asp562Ala) | |
| 3 | g.122284227A>G | CA354159261 | CASR | c.2042A>G (p.Asp681Gly) c.2303A>G (p.Asp768Gly) c.2273A>G (p.Asp758Gly) c.1790A>G (p.Asp597Gly) c.1685A>G (p.Asp562Gly) | |
| 3 | g.122284227A>T | CA354159263 | CASR | c.2042A>T (p.Asp681Val) c.2303A>T (p.Asp768Val) c.2273A>T (p.Asp758Val) c.1790A>T (p.Asp597Val) c.1685A>T (p.Asp562Val) | |
| 3 | g.122284228T>A | CA354159265 | CASR | c.2043T>A (p.Asp681Glu) c.2304T>A (p.Asp768Glu) c.2274T>A (p.Asp758Glu) c.1791T>A (p.Asp597Glu) c.1686T>A (p.Asp562Glu) | |
| 3 | g.122284228T>C | CA435424803 | CASR | c.2043T>C (p.Asp681=) c.2304T>C (p.Asp768=) c.2274T>C (p.Asp758=) c.1791T>C (p.Asp597=) c.1686T>C (p.Asp562=) | gnomAD v4 |
| 3 | g.122284228T>G | CA354159267 | CASR | c.2043T>G (p.Asp681Glu) c.2304T>G (p.Asp768Glu) c.2274T>G (p.Asp758Glu) c.1791T>G (p.Asp597Glu) c.1686T>G (p.Asp562Glu) | gnomAD v3 gnomAD v4 |
| 3 | g.122284229G>A | CA354159269 | CASR | c.2044G>A (p.Glu682Lys) c.2305G>A (p.Glu769Lys) c.2275G>A (p.Glu759Lys) c.1792G>A (p.Glu598Lys) c.1687G>A (p.Glu563Lys) | ClinVar |
| 3 | g.122284229G>C | CA354159272 | CASR | c.2044G>C (p.Glu682Gln) c.2305G>C (p.Glu769Gln) c.2275G>C (p.Glu759Gln) c.1792G>C (p.Glu598Gln) c.1687G>C (p.Glu563Gln) | |
| 3 | g.122284229G>T | CA354159274 | CASR | c.2044G>T (p.Glu682Ter) c.2305G>T (p.Glu769Ter) c.2275G>T (p.Glu759Ter) c.1792G>T (p.Glu598Ter) c.1687G>T (p.Glu563Ter) | |
| 3 | g.122284230A>C | CA354159278 | CASR | c.2045A>C (p.Glu682Ala) c.2306A>C (p.Glu769Ala) c.2276A>C (p.Glu759Ala) c.1793A>C (p.Glu598Ala) c.1688A>C (p.Glu563Ala) | |
| 3 | g.122284230A>G | CA354159279 | CASR | c.2045A>G (p.Glu682Gly) c.2306A>G (p.Glu769Gly) c.2276A>G (p.Glu759Gly) c.1793A>G (p.Glu598Gly) c.1688A>G (p.Glu563Gly) | |
| 3 | g.122284230A>T | CA354159276 | CASR | c.2045A>T (p.Glu682Val) c.2306A>T (p.Glu769Val) c.2276A>T (p.Glu759Val) c.1793A>T (p.Glu598Val) c.1688A>T (p.Glu563Val) | |
| 3 | g.122284231G>A | CA435424805 | CASR | c.2046G>A (p.Glu682=) c.2307G>A (p.Glu769=) c.2277G>A (p.Glu759=) c.1794G>A (p.Glu598=) c.1689G>A (p.Glu563=) | ClinVar gnomAD v4 |
| 3 | g.122284231G>C | CA354159283 | CASR | c.2046G>C (p.Glu682Asp) c.2307G>C (p.Glu769Asp) c.2277G>C (p.Glu759Asp) c.1794G>C (p.Glu598Asp) c.1689G>C (p.Glu563Asp) | |
| 3 | g.122284231G>T | CA354159282 | CASR | c.2046G>T (p.Glu682Asp) c.2307G>T (p.Glu769Asp) c.2277G>T (p.Glu759Asp) c.1794G>T (p.Glu598Asp) c.1689G>T (p.Glu563Asp) | |
| 3 | g.122284232A= | CA1397871952 | CASR | c.2047A= (p.Ile683=) c.2308A= (p.Ile770=) c.2278A= (p.Ile760=) c.1795A= (p.Ile599=) c.1690A= (p.Ile564=) | |
| 3 | g.122284232A>C | CA354159286 | CASR | c.2047A>C (p.Ile683Leu) c.2308A>C (p.Ile770Leu) c.2278A>C (p.Ile760Leu) c.1795A>C (p.Ile599Leu) c.1690A>C (p.Ile564Leu) | |
| 3 | g.122284232A>G | CA354159288 | CASR | c.2047A>G (p.Ile683Val) c.2308A>G (p.Ile770Val) c.2278A>G (p.Ile760Val) c.1795A>G (p.Ile599Val) c.1690A>G (p.Ile564Val) | ClinVar dbSNP |
| 3 | g.122284232A>T | CA354159289 | CASR | c.2047A>T (p.Ile683Phe) c.2308A>T (p.Ile770Phe) c.2278A>T (p.Ile760Phe) c.1795A>T (p.Ile599Phe) c.1690A>T (p.Ile564Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 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.122284233T>A | CA354159291 | CASR | c.2048T>A (p.Ile683Asn) c.2309T>A (p.Ile770Asn) c.2279T>A (p.Ile760Asn) c.1796T>A (p.Ile599Asn) c.1691T>A (p.Ile564Asn) | |
| 3 | g.122284233T>C | CA354159293 | CASR | c.2048T>C (p.Ile683Thr) c.2309T>C (p.Ile770Thr) c.2279T>C (p.Ile760Thr) c.1796T>C (p.Ile599Thr) c.1691T>C (p.Ile564Thr) | |
| 3 | g.122284233T>G | CA354159295 | CASR | c.2048T>G (p.Ile683Ser) c.2309T>G (p.Ile770Ser) c.2279T>G (p.Ile760Ser) c.1796T>G (p.Ile599Ser) c.1691T>G (p.Ile564Ser) | gnomAD v4 |
| 3 | g.122284234C>A | CA435424809 | CASR | c.2049C>A (p.Ile683=) c.2310C>A (p.Ile770=) c.2280C>A (p.Ile760=) c.1797C>A (p.Ile599=) c.1692C>A (p.Ile564=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284234C= | CA1397871961 | CASR | c.2049C= (p.Ile683=) c.2310C= (p.Ile770=) c.2280C= (p.Ile760=) c.1797C= (p.Ile599=) c.1692C= (p.Ile564=) | |
| 3 | g.122284234C>G | CA354159297 | CASR | c.2049C>G (p.Ile683Met) c.2310C>G (p.Ile770Met) c.2280C>G (p.Ile760Met) c.1797C>G (p.Ile599Met) c.1692C>G (p.Ile564Met) | ClinVar dbSNP |
| 3 | g.122284234C>T | CA435424810 | CASR | c.2049C>T (p.Ile683=) c.2310C>T (p.Ile770=) c.2280C>T (p.Ile760=) c.1797C>T (p.Ile599=) c.1692C>T (p.Ile564=) | dbSNP COSMIC |
| 3 | g.122284235A>C | CA354159299 | CASR | c.2050A>C (p.Ile684Leu) c.2311A>C (p.Ile771Leu) c.2281A>C (p.Ile761Leu) c.1798A>C (p.Ile600Leu) c.1693A>C (p.Ile565Leu) | ClinVar |
| 3 | g.122284235A>G | CA354159300 | CASR | c.2050A>G (p.Ile684Val) c.2311A>G (p.Ile771Val) c.2281A>G (p.Ile761Val) c.1798A>G (p.Ile600Val) c.1693A>G (p.Ile565Val) | |
| 3 | g.122284235A>T | CA354159301 | CASR | c.2050A>T (p.Ile684Phe) c.2311A>T (p.Ile771Phe) c.2281A>T (p.Ile761Phe) c.1798A>T (p.Ile600Phe) c.1693A>T (p.Ile565Phe) | |
| 3 | g.122284236T>A | CA354159303 | CASR | c.2051T>A (p.Ile684Asn) c.2312T>A (p.Ile771Asn) c.2282T>A (p.Ile761Asn) c.1799T>A (p.Ile600Asn) c.1694T>A (p.Ile565Asn) | ClinVar |
| 3 | g.122284236T>C | CA354159304 | CASR | c.2051T>C (p.Ile684Thr) c.2312T>C (p.Ile771Thr) c.2282T>C (p.Ile761Thr) c.1799T>C (p.Ile600Thr) c.1694T>C (p.Ile565Thr) | ClinVar |
| 3 | g.122284236T>G | CA354159306 | CASR | c.2051T>G (p.Ile684Ser) c.2312T>G (p.Ile771Ser) c.2282T>G (p.Ile761Ser) c.1799T>G (p.Ile600Ser) c.1694T>G (p.Ile565Ser) | COSMIC |
| 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) | ClinVar 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) | ClinVar 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) | ClinVar |
| 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) | ClinVar 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 |
| 3 | g.122284251A>C | CA354159381 | CASR | c.2066A>C (p.His689Pro) c.2327A>C (p.His776Pro) c.2297A>C (p.His766Pro) c.1814A>C (p.His605Pro) c.1709A>C (p.His570Pro) | |
| 3 | g.122284251A>G | CA354159382 | CASR | c.2066A>G (p.His689Arg) c.2327A>G (p.His776Arg) c.2297A>G (p.His766Arg) c.1814A>G (p.His605Arg) c.1709A>G (p.His570Arg) | |
| 3 | g.122284251A>T | CA354159385 | CASR | c.2066A>T (p.His689Leu) c.2327A>T (p.His776Leu) c.2297A>T (p.His766Leu) c.1814A>T (p.His605Leu) c.1709A>T (p.His570Leu) | |
| 3 | g.122284252C>A | CA354159390 | CASR | c.2067C>A (p.His689Gln) c.2328C>A (p.His776Gln) c.2298C>A (p.His766Gln) c.1815C>A (p.His605Gln) c.1710C>A (p.His570Gln) | |
| 3 | g.122284252C= | CA1397871996 | CASR | c.2067C= (p.His689=) c.2328C= (p.His776=) c.2298C= (p.His766=) c.1815C= (p.His605=) c.1710C= (p.His570=) | |
| 3 | g.122284252C>G | CA82748902 | CASR | c.2067C>G (p.His689Gln) c.2328C>G (p.His776Gln) c.2298C>G (p.His766Gln) c.1815C>G (p.His605Gln) c.1710C>G (p.His570Gln) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284252C>T | CA2569810 | CASR | c.2067C>T (p.His689=) c.2328C>T (p.His776=) c.2298C>T (p.His766=) c.1815C>T (p.His605=) c.1710C>T (p.His570=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284253G>A | CA354159395 | CASR | c.2068G>A (p.Glu690Lys) c.2329G>A (p.Glu777Lys) c.2299G>A (p.Glu767Lys) c.1816G>A (p.Glu606Lys) c.1711G>A (p.Glu571Lys) | ClinVar dbSNP COSMIC |
| 3 | g.122284253G>C | CA354159397 | CASR | c.2068G>C (p.Glu690Gln) c.2329G>C (p.Glu777Gln) c.2299G>C (p.Glu767Gln) c.1816G>C (p.Glu606Gln) c.1711G>C (p.Glu571Gln) | ClinVar |
| 3 | g.122284253G= | CA1397872004 | CASR | c.2068G= (p.Glu690=) c.2329G= (p.Glu777=) c.2299G= (p.Glu767=) c.1816G= (p.Glu606=) c.1711G= (p.Glu571=) | |
| 3 | g.122284253G>T | CA354159399 | CASR | c.2068G>T (p.Glu690Ter) c.2329G>T (p.Glu777Ter) c.2299G>T (p.Glu767Ter) c.1816G>T (p.Glu606Ter) c.1711G>T (p.Glu571Ter) | |
| 3 | g.122284254A>C | CA354159401 | CASR | c.2069A>C (p.Glu690Ala) c.2330A>C (p.Glu777Ala) c.2300A>C (p.Glu767Ala) c.1817A>C (p.Glu606Ala) c.1712A>C (p.Glu571Ala) | ClinVar dbSNP |
| 3 | g.122284254A>G | CA354159403 | CASR | c.2069A>G (p.Glu690Gly) c.2330A>G (p.Glu777Gly) c.2300A>G (p.Glu767Gly) c.1817A>G (p.Glu606Gly) c.1712A>G (p.Glu571Gly) | |
| 3 | g.122284254A>T | CA354159404 | CASR | c.2069A>T (p.Glu690Val) c.2330A>T (p.Glu777Val) c.2300A>T (p.Glu767Val) c.1817A>T (p.Glu606Val) c.1712A>T (p.Glu571Val) | |
| 3 | g.122284255G>A | CA2569811 | CASR | c.2070G>A (p.Glu690=) c.2331G>A (p.Glu777=) c.2301G>A (p.Glu767=) c.1818G>A (p.Glu606=) c.1713G>A (p.Glu571=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284255G>C | CA354159410 | CASR | c.2070G>C (p.Glu690Asp) c.2331G>C (p.Glu777Asp) c.2301G>C (p.Glu767Asp) c.1818G>C (p.Glu606Asp) c.1713G>C (p.Glu571Asp) | |
| 3 | g.122284255G= | CA1397872011 | CASR | c.2070G= (p.Glu690=) c.2331G= (p.Glu777=) c.2301G= (p.Glu767=) c.1818G= (p.Glu606=) c.1713G= (p.Glu571=) | |
| 3 | g.122284255G>T | CA354159407 | CASR | c.2070G>T (p.Glu690Asp) c.2331G>T (p.Glu777Asp) c.2301G>T (p.Glu767Asp) c.1818G>T (p.Glu606Asp) c.1713G>T (p.Glu571Asp) | |
| 3 | g.122284256G>A | CA354159413 | CASR | c.2071G>A (p.Gly691Ser) c.2332G>A (p.Gly778Ser) c.2302G>A (p.Gly768Ser) c.1819G>A (p.Gly607Ser) c.1714G>A (p.Gly572Ser) | |
| 3 | g.122284256G>C | CA354159417 | CASR | c.2071G>C (p.Gly691Arg) c.2332G>C (p.Gly778Arg) c.2302G>C (p.Gly768Arg) c.1819G>C (p.Gly607Arg) c.1714G>C (p.Gly572Arg) | |
| 3 | g.122284256G>T | CA354159415 | CASR | c.2071G>T (p.Gly691Cys) c.2332G>T (p.Gly778Cys) c.2302G>T (p.Gly768Cys) c.1819G>T (p.Gly607Cys) c.1714G>T (p.Gly572Cys) | gnomAD v4 |
| 3 | g.122284257G>A | CA354159419 | CASR | c.2072G>A (p.Gly691Asp) c.2333G>A (p.Gly778Asp) c.2303G>A (p.Gly768Asp) c.1820G>A (p.Gly607Asp) c.1715G>A (p.Gly572Asp) | |
| 3 | g.122284257G>C | CA354159423 | CASR | c.2072G>C (p.Gly691Ala) c.2333G>C (p.Gly778Ala) c.2303G>C (p.Gly768Ala) c.1820G>C (p.Gly607Ala) c.1715G>C (p.Gly572Ala) | |
| 3 | g.122284257G= | CA1397872018 | CASR | c.2072G= (p.Gly691=) c.2333G= (p.Gly778=) c.2303G= (p.Gly768=) c.1820G= (p.Gly607=) c.1715G= (p.Gly572=) | |
| 3 | g.122284257G>T | CA2569812 | CASR | c.2072G>T (p.Gly691Val) c.2333G>T (p.Gly778Val) c.2303G>T (p.Gly768Val) c.1820G>T (p.Gly607Val) c.1715G>T (p.Gly572Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284258C>A | CA435424860 | CASR | c.2073C>A (p.Gly691=) c.2334C>A (p.Gly778=) c.2304C>A (p.Gly768=) c.1821C>A (p.Gly607=) c.1716C>A (p.Gly572=) | |
| 3 | g.122284258C= | CA1397872023 | CASR | c.2073C= (p.Gly691=) c.2334C= (p.Gly778=) c.2304C= (p.Gly768=) c.1821C= (p.Gly607=) c.1716C= (p.Gly572=) | |
| 3 | g.122284258C>G | CA435424862 | CASR | c.2073C>G (p.Gly691=) c.2334C>G (p.Gly778=) c.2304C>G (p.Gly768=) c.1821C>G (p.Gly607=) c.1716C>G (p.Gly572=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284258C>T | CA435424861 | CASR | c.2073C>T (p.Gly691=) c.2334C>T (p.Gly778=) c.2304C>T (p.Gly768=) c.1821C>T (p.Gly607=) c.1716C>T (p.Gly572=) | gnomAD v3 gnomAD v4 |
| 3 | g.122284259T>A | CA354159426 | CASR | c.2074T>A (p.Ser692Thr) c.2335T>A (p.Ser779Thr) c.2305T>A (p.Ser769Thr) c.1822T>A (p.Ser608Thr) c.1717T>A (p.Ser573Thr) | |
| 3 | g.122284259T>C | CA354159431 | CASR | c.2074T>C (p.Ser692Pro) c.2335T>C (p.Ser779Pro) c.2305T>C (p.Ser769Pro) c.1822T>C (p.Ser608Pro) c.1717T>C (p.Ser573Pro) | |
| 3 | g.122284259T>G | CA354159433 | CASR | c.2074T>G (p.Ser692Ala) c.2335T>G (p.Ser779Ala) c.2305T>G (p.Ser769Ala) c.1822T>G (p.Ser608Ala) c.1717T>G (p.Ser573Ala) | |
| 3 | g.122284260C>A | CA354159435 | CASR | c.2075C>A (p.Ser692Tyr) c.2336C>A (p.Ser779Tyr) c.2306C>A (p.Ser769Tyr) c.1823C>A (p.Ser608Tyr) c.1718C>A (p.Ser573Tyr) | |
| 3 | g.122284260C>G | CA354159436 | CASR | c.2075C>G (p.Ser692Cys) c.2336C>G (p.Ser779Cys) c.2306C>G (p.Ser769Cys) c.1823C>G (p.Ser608Cys) c.1718C>G (p.Ser573Cys) | ClinVar |
| 3 | g.122284260C>T | CA354159439 | CASR | c.2075C>T (p.Ser692Phe) c.2336C>T (p.Ser779Phe) c.2306C>T (p.Ser769Phe) c.1823C>T (p.Ser608Phe) c.1718C>T (p.Ser573Phe) | |
| 3 | g.122284261C>A | CA435424866 | CASR | c.2076C>A (p.Ser692=) c.2337C>A (p.Ser779=) c.2307C>A (p.Ser769=) c.1824C>A (p.Ser608=) c.1719C>A (p.Ser573=) | |
| 3 | g.122284261C= | CA1397872028 | CASR | c.2076C= (p.Ser692=) c.2337C= (p.Ser779=) c.2307C= (p.Ser769=) c.1824C= (p.Ser608=) c.1719C= (p.Ser573=) | |
| 3 | g.122284261C>G | CA435424867 | CASR | c.2076C>G (p.Ser692=) c.2337C>G (p.Ser779=) c.2307C>G (p.Ser769=) c.1824C>G (p.Ser608=) c.1719C>G (p.Ser573=) | dbSNP |
| 3 | g.122284261C>T | CA82748907 | CASR | c.2076C>T (p.Ser692=) c.2337C>T (p.Ser779=) c.2307C>T (p.Ser769=) c.1824C>T (p.Ser608=) c.1719C>T (p.Ser573=) | dbSNP |
| 3 | g.122284262C>A | CA354159442 | CASR | c.2077C>A (p.Leu693Ile) c.2338C>A (p.Leu780Ile) c.2308C>A (p.Leu770Ile) c.1825C>A (p.Leu609Ile) c.1720C>A (p.Leu574Ile) | COSMIC |
| 3 | g.122284262C>G | CA354159443 | CASR | c.2077C>G (p.Leu693Val) c.2338C>G (p.Leu780Val) c.2308C>G (p.Leu770Val) c.1825C>G (p.Leu609Val) c.1720C>G (p.Leu574Val) | |
| 3 | g.122284262C>T | CA354159445 | CASR | c.2077C>T (p.Leu693Phe) c.2338C>T (p.Leu780Phe) c.2308C>T (p.Leu770Phe) c.1825C>T (p.Leu609Phe) c.1720C>T (p.Leu574Phe) | |
| 3 | g.122284263T>A | CA354159447 | CASR | c.2078T>A (p.Leu693His) c.2339T>A (p.Leu780His) c.2309T>A (p.Leu770His) c.1826T>A (p.Leu609His) c.1721T>A (p.Leu574His) | |
| 3 | g.122284263T>C | CA354159449 | CASR | c.2078T>C (p.Leu693Pro) c.2339T>C (p.Leu780Pro) c.2309T>C (p.Leu770Pro) c.1826T>C (p.Leu609Pro) c.1721T>C (p.Leu574Pro) | |
| 3 | g.122284263T>G | CA354159451 | CASR | c.2078T>G (p.Leu693Arg) c.2339T>G (p.Leu780Arg) c.2309T>G (p.Leu770Arg) c.1826T>G (p.Leu609Arg) c.1721T>G (p.Leu574Arg) | |
| 3 | g.122284264C>A | CA435424873 | CASR | c.2079C>A (p.Leu693=) c.2340C>A (p.Leu780=) c.2310C>A (p.Leu770=) c.1827C>A (p.Leu609=) c.1722C>A (p.Leu574=) | |
| 3 | g.122284264C>G | CA435424875 | CASR | c.2079C>G (p.Leu693=) c.2340C>G (p.Leu780=) c.2310C>G (p.Leu770=) c.1827C>G (p.Leu609=) c.1722C>G (p.Leu574=) | |
| 3 | g.122284264C>T | CA435424876 | CASR | c.2079C>T (p.Leu693=) c.2340C>T (p.Leu780=) c.2310C>T (p.Leu770=) c.1827C>T (p.Leu609=) c.1722C>T (p.Leu574=) | |
| 3 | g.122284265A= | CA1397872033 | CASR | c.2080A= (p.Met694=) c.2341A= (p.Met781=) c.2311A= (p.Met771=) c.1828A= (p.Met610=) c.1723A= (p.Met575=) | |
| 3 | g.122284265A>C | CA354159456 | CASR | c.2080A>C (p.Met694Leu) c.2341A>C (p.Met781Leu) c.2311A>C (p.Met771Leu) c.1828A>C (p.Met610Leu) c.1723A>C (p.Met575Leu) | gnomAD v4 |
| 3 | g.122284265A>G | CA354159455 | CASR | c.2080A>G (p.Met694Val) c.2341A>G (p.Met781Val) c.2311A>G (p.Met771Val) c.1828A>G (p.Met610Val) c.1723A>G (p.Met575Val) | ClinVar |
| 3 | g.122284265A>T | CA354159453 | CASR | c.2080A>T (p.Met694Leu) c.2341A>T (p.Met781Leu) c.2311A>T (p.Met771Leu) c.1828A>T (p.Met610Leu) c.1723A>T (p.Met575Leu) | ClinVar dbSNP |
| 3 | g.122284266T>A | CA354159458 | CASR | c.2081T>A (p.Met694Lys) c.2342T>A (p.Met781Lys) c.2312T>A (p.Met771Lys) c.1829T>A (p.Met610Lys) c.1724T>A (p.Met575Lys) | |
| 3 | g.122284266T>C | CA354159460 | CASR | c.2081T>C (p.Met694Thr) c.2342T>C (p.Met781Thr) c.2312T>C (p.Met771Thr) c.1829T>C (p.Met610Thr) c.1724T>C (p.Met575Thr) | |
| 3 | g.122284266T>G | CA354159462 | CASR | c.2081T>G (p.Met694Arg) c.2342T>G (p.Met781Arg) c.2312T>G (p.Met771Arg) c.1829T>G (p.Met610Arg) c.1724T>G (p.Met575Arg) | |
| 3 | g.122284267G>A | CA354159465 | CASR | c.2082G>A (p.Met694Ile) c.2343G>A (p.Met781Ile) c.2313G>A (p.Met771Ile) c.1830G>A (p.Met610Ile) c.1725G>A (p.Met575Ile) | |
| 3 | g.122284267G>C | CA354159467 | CASR | c.2082G>C (p.Met694Ile) c.2343G>C (p.Met781Ile) c.2313G>C (p.Met771Ile) c.1830G>C (p.Met610Ile) c.1725G>C (p.Met575Ile) | |
| 3 | g.122284267G>T | CA354159468 | CASR | c.2082G>T (p.Met694Ile) c.2343G>T (p.Met781Ile) c.2313G>T (p.Met771Ile) c.1830G>T (p.Met610Ile) c.1725G>T (p.Met575Ile) | |
| 3 | g.122284268G>A | CA2569813 | CASR | c.2083G>A (p.Ala695Thr) c.2344G>A (p.Ala782Thr) c.2314G>A (p.Ala772Thr) c.1831G>A (p.Ala611Thr) c.1726G>A (p.Ala576Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284268G>C | CA354159472 | CASR | c.2083G>C (p.Ala695Pro) c.2344G>C (p.Ala782Pro) c.2314G>C (p.Ala772Pro) c.1831G>C (p.Ala611Pro) c.1726G>C (p.Ala576Pro) | |
| 3 | g.122284268G= | CA1397872041 | CASR | c.2083G= (p.Ala695=) c.2344G= (p.Ala782=) c.2314G= (p.Ala772=) c.1831G= (p.Ala611=) c.1726G= (p.Ala576=) | |
| 3 | g.122284268G>T | CA354159474 | CASR | c.2083G>T (p.Ala695Ser) c.2344G>T (p.Ala782Ser) c.2314G>T (p.Ala772Ser) c.1831G>T (p.Ala611Ser) c.1726G>T (p.Ala576Ser) | |
| 3 | g.122284269C>A | CA354159477 | CASR | c.2084C>A (p.Ala695Asp) c.2345C>A (p.Ala782Asp) c.2315C>A (p.Ala772Asp) c.1832C>A (p.Ala611Asp) c.1727C>A (p.Ala576Asp) | |
| 3 | g.122284269C= | CA1397872048 | CASR | c.2084C= (p.Ala695=) c.2345C= (p.Ala782=) c.2315C= (p.Ala772=) c.1832C= (p.Ala611=) c.1727C= (p.Ala576=) | |
| 3 | g.122284269C>G | CA354159479 | CASR | c.2084C>G (p.Ala695Gly) c.2345C>G (p.Ala782Gly) c.2315C>G (p.Ala772Gly) c.1832C>G (p.Ala611Gly) c.1727C>G (p.Ala576Gly) | gnomAD v4 |
| 3 | g.122284269C>T | CA354159481 | CASR | c.2084C>T (p.Ala695Val) c.2345C>T (p.Ala782Val) c.2315C>T (p.Ala772Val) c.1832C>T (p.Ala611Val) c.1727C>T (p.Ala576Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284270C>A | CA435424887 | CASR | c.2085C>A (p.Ala695=) c.2346C>A (p.Ala782=) c.2316C>A (p.Ala772=) c.1833C>A (p.Ala611=) c.1728C>A (p.Ala576=) | |
| 3 | g.122284270C= | CA1397872056 | CASR | c.2085C= (p.Ala695=) c.2346C= (p.Ala782=) c.2316C= (p.Ala772=) c.1833C= (p.Ala611=) c.1728C= (p.Ala576=) | |
| 3 | g.122284270C>G | CA435424889 | CASR | c.2085C>G (p.Ala695=) c.2346C>G (p.Ala782=) c.2316C>G (p.Ala772=) c.1833C>G (p.Ala611=) c.1728C>G (p.Ala576=) | |
| 3 | g.122284270C>T | CA435424892 | CASR | c.2085C>T (p.Ala695=) c.2346C>T (p.Ala782=) c.2316C>T (p.Ala772=) c.1833C>T (p.Ala611=) c.1728C>T (p.Ala576=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284271C>A | CA354159483 | CASR | c.2086C>A (p.Leu696Met) c.2347C>A (p.Leu783Met) c.2317C>A (p.Leu773Met) c.1834C>A (p.Leu612Met) c.1729C>A (p.Leu577Met) | |
| 3 | g.122284271C= | CA1397872062 | CASR | c.2086C= (p.Leu696=) c.2347C= (p.Leu783=) c.2317C= (p.Leu773=) c.1834C= (p.Leu612=) c.1729C= (p.Leu577=) | |
| 3 | g.122284271C>G | CA354159485 | CASR | c.2086C>G (p.Leu696Val) c.2347C>G (p.Leu783Val) c.2317C>G (p.Leu773Val) c.1834C>G (p.Leu612Val) c.1729C>G (p.Leu577Val) | ClinVar |
| 3 | g.122284271C>T | CA435424896 | CASR | c.2086C>T (p.Leu696=) c.2347C>T (p.Leu783=) c.2317C>T (p.Leu773=) c.1834C>T (p.Leu612=) c.1729C>T (p.Leu577=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284272T>A | CA354159487 | CASR | c.2087T>A (p.Leu696Gln) c.2348T>A (p.Leu783Gln) c.2318T>A (p.Leu773Gln) c.1835T>A (p.Leu612Gln) c.1730T>A (p.Leu577Gln) | |
| 3 | g.122284272T>C | CA354159489 | CASR | c.2087T>C (p.Leu696Pro) c.2348T>C (p.Leu783Pro) c.2318T>C (p.Leu773Pro) c.1835T>C (p.Leu612Pro) c.1730T>C (p.Leu577Pro) | |
| 3 | g.122284272T>G | CA119495 | CASR | c.2087T>G (p.Leu696Arg) c.2348T>G (p.Leu783Arg) c.2318T>G (p.Leu773Arg) c.1835T>G (p.Leu612Arg) c.1730T>G (p.Leu577Arg) | ClinVar dbSNP |
| 3 | g.122284272T= | CA1397872068 | CASR | c.2087T= (p.Leu696=) c.2348T= (p.Leu783=) c.2318T= (p.Leu773=) c.1835T= (p.Leu612=) c.1730T= (p.Leu577=) | |
| 3 | g.122284273G>A | CA435424900 | CASR | c.2088G>A (p.Leu696=) c.2349G>A (p.Leu783=) c.2319G>A (p.Leu773=) c.1836G>A (p.Leu612=) c.1731G>A (p.Leu577=) | |
| 3 | g.122284273G>C | CA435424901 | CASR | c.2088G>C (p.Leu696=) c.2349G>C (p.Leu783=) c.2319G>C (p.Leu773=) c.1836G>C (p.Leu612=) c.1731G>C (p.Leu577=) | |
| 3 | g.122284273G>T | CA435424902 | CASR | c.2088G>T (p.Leu696=) c.2349G>T (p.Leu783=) c.2319G>T (p.Leu773=) c.1836G>T (p.Leu612=) c.1731G>T (p.Leu577=) | |
| 3 | g.122284274G>A | CA354159491 | CASR | c.2089G>A (p.Gly697Ser) c.2350G>A (p.Gly784Ser) c.2320G>A (p.Gly774Ser) c.1837G>A (p.Gly613Ser) c.1732G>A (p.Gly578Ser) | ClinVar |
| 3 | g.122284274G>C | CA354159494 | CASR | c.2089G>C (p.Gly697Arg) c.2350G>C (p.Gly784Arg) c.2320G>C (p.Gly774Arg) c.1837G>C (p.Gly613Arg) c.1732G>C (p.Gly578Arg) | |
| 3 | g.122284274G>T | CA354159496 | CASR | c.2089G>T (p.Gly697Cys) c.2350G>T (p.Gly784Cys) c.2320G>T (p.Gly774Cys) c.1837G>T (p.Gly613Cys) c.1732G>T (p.Gly578Cys) | |
| 3 | g.122284275G>A | CA354159498 | CASR | c.2090G>A (p.Gly697Asp) c.2351G>A (p.Gly784Asp) c.2321G>A (p.Gly774Asp) c.1838G>A (p.Gly613Asp) c.1733G>A (p.Gly578Asp) | |
| 3 | g.122284275G>C | CA354159501 | CASR | c.2090G>C (p.Gly697Ala) c.2351G>C (p.Gly784Ala) c.2321G>C (p.Gly774Ala) c.1838G>C (p.Gly613Ala) c.1733G>C (p.Gly578Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284275G= | CA1397872074 | CASR | c.2090G= (p.Gly697=) c.2351G= (p.Gly784=) c.2321G= (p.Gly774=) c.1838G= (p.Gly613=) c.1733G= (p.Gly578=) | |
| 3 | g.122284275G>T | CA354159503 | CASR | c.2090G>T (p.Gly697Val) c.2351G>T (p.Gly784Val) c.2321G>T (p.Gly774Val) c.1838G>T (p.Gly613Val) c.1733G>T (p.Gly578Val) | |
| 3 | g.122284276C>A | CA435424911 | CASR | c.2091C>A (p.Gly697=) c.2352C>A (p.Gly784=) c.2322C>A (p.Gly774=) c.1839C>A (p.Gly613=) c.1734C>A (p.Gly578=) | ClinVar |
| 3 | g.122284276C>G | CA435424914 | CASR | c.2091C>G (p.Gly697=) c.2352C>G (p.Gly784=) c.2322C>G (p.Gly774=) c.1839C>G (p.Gly613=) c.1734C>G (p.Gly578=) | |
| 3 | g.122284276C>T | CA435424915 | CASR | c.2091C>T (p.Gly697=) c.2352C>T (p.Gly784=) c.2322C>T (p.Gly774=) c.1839C>T (p.Gly613=) c.1734C>T (p.Gly578=) | |
| 3 | g.122284277T>A | CA354159505 | CASR | c.2092T>A (p.Phe698Ile) c.2353T>A (p.Phe785Ile) c.2323T>A (p.Phe775Ile) c.1840T>A (p.Phe614Ile) c.1735T>A (p.Phe579Ile) | |
| 3 | g.122284277T>C | CA354159507 | CASR | c.2092T>C (p.Phe698Leu) c.2353T>C (p.Phe785Leu) c.2323T>C (p.Phe775Leu) c.1840T>C (p.Phe614Leu) c.1735T>C (p.Phe579Leu) | |
| 3 | g.122284277T>G | CA354159509 | CASR | c.2092T>G (p.Phe698Val) c.2353T>G (p.Phe785Val) c.2323T>G (p.Phe775Val) c.1840T>G (p.Phe614Val) c.1735T>G (p.Phe579Val) | ClinVar |
| 3 | g.122284278T>A | CA354159512 | CASR | c.2093T>A (p.Phe698Tyr) c.2354T>A (p.Phe785Tyr) c.2324T>A (p.Phe775Tyr) c.1841T>A (p.Phe614Tyr) c.1736T>A (p.Phe579Tyr) | |
| 3 | g.122284278T>C | CA354159513 | CASR | c.2093T>C (p.Phe698Ser) c.2354T>C (p.Phe785Ser) c.2324T>C (p.Phe775Ser) c.1841T>C (p.Phe614Ser) c.1736T>C (p.Phe579Ser) | ClinVar |
| 3 | g.122284278T>G | CA354159515 | CASR | c.2093T>G (p.Phe698Cys) c.2354T>G (p.Phe785Cys) c.2324T>G (p.Phe775Cys) c.1841T>G (p.Phe614Cys) c.1736T>G (p.Phe579Cys) | |
| 3 | g.122284279C>A | CA354159519 | CASR | c.2094C>A (p.Phe698Leu) c.2355C>A (p.Phe785Leu) c.2325C>A (p.Phe775Leu) c.1842C>A (p.Phe614Leu) c.1737C>A (p.Phe579Leu) | |
| 3 | g.122284279C= | CA1397872078 | CASR | c.2094C= (p.Phe698=) c.2355C= (p.Phe785=) c.2325C= (p.Phe775=) c.1842C= (p.Phe614=) c.1737C= (p.Phe579=) | |
| 3 | g.122284279C>G | CA354159517 | CASR | c.2094C>G (p.Phe698Leu) c.2355C>G (p.Phe785Leu) c.2325C>G (p.Phe775Leu) c.1842C>G (p.Phe614Leu) c.1737C>G (p.Phe579Leu) | ClinVar dbSNP |
| 3 | g.122284279C>T | CA2569814 | CASR | c.2094C>T (p.Phe698=) c.2355C>T (p.Phe785=) c.2325C>T (p.Phe775=) c.1842C>T (p.Phe614=) c.1737C>T (p.Phe579=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284280C>A | CA354159522 | CASR | c.2095C>A (p.Leu699Met) c.2356C>A (p.Leu786Met) c.2326C>A (p.Leu776Met) c.1843C>A (p.Leu615Met) c.1738C>A (p.Leu580Met) | |
| 3 | g.122284280C>G | CA354159524 | CASR | c.2095C>G (p.Leu699Val) c.2356C>G (p.Leu786Val) c.2326C>G (p.Leu776Val) c.1843C>G (p.Leu615Val) c.1738C>G (p.Leu580Val) | |
| 3 | g.122284280C>T | CA435424920 | CASR | c.2095C>T (p.Leu699=) c.2356C>T (p.Leu786=) c.2326C>T (p.Leu776=) c.1843C>T (p.Leu615=) c.1738C>T (p.Leu580=) | ClinVar |
| 3 | g.122284281T>A | CA354159527 | CASR | c.2096T>A (p.Leu699Gln) c.2357T>A (p.Leu786Gln) c.2327T>A (p.Leu776Gln) c.1844T>A (p.Leu615Gln) c.1739T>A (p.Leu580Gln) | |
| 3 | g.122284281T>C | CA354159528 | CASR | c.2096T>C (p.Leu699Pro) c.2357T>C (p.Leu786Pro) c.2327T>C (p.Leu776Pro) c.1844T>C (p.Leu615Pro) c.1739T>C (p.Leu580Pro) | |
| 3 | g.122284281T>G | CA354159530 | CASR | c.2096T>G (p.Leu699Arg) c.2357T>G (p.Leu786Arg) c.2327T>G (p.Leu776Arg) c.1844T>G (p.Leu615Arg) c.1739T>G (p.Leu580Arg) | |
| 3 | g.122284282G>A | CA2569815 | CASR | c.2097G>A (p.Leu699=) c.2358G>A (p.Leu786=) c.2328G>A (p.Leu776=) c.1845G>A (p.Leu615=) c.1740G>A (p.Leu580=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284282G>C | CA435424924 | CASR | c.2097G>C (p.Leu699=) c.2358G>C (p.Leu786=) c.2328G>C (p.Leu776=) c.1845G>C (p.Leu615=) c.1740G>C (p.Leu580=) | |
| 3 | g.122284282G= | CA1397872086 | CASR | c.2097G= (p.Leu699=) c.2358G= (p.Leu786=) c.2328G= (p.Leu776=) c.1845G= (p.Leu615=) c.1740G= (p.Leu580=) | |
| 3 | g.122284282G>T | CA435424925 | CASR | c.2097G>T (p.Leu699=) c.2358G>T (p.Leu786=) c.2328G>T (p.Leu776=) c.1845G>T (p.Leu615=) c.1740G>T (p.Leu580=) | gnomAD v4 |
| 3 | g.122284283A= | CA1397872091 | CASR | c.2098A= (p.Ile700=) c.2359A= (p.Ile787=) c.2329A= (p.Ile777=) c.1846A= (p.Ile616=) c.1741A= (p.Ile581=) | |
| 3 | g.122284283A>C | CA354159533 | CASR | c.2098A>C (p.Ile700Leu) c.2359A>C (p.Ile787Leu) c.2329A>C (p.Ile777Leu) c.1846A>C (p.Ile616Leu) c.1741A>C (p.Ile581Leu) | ClinVar dbSNP |
| 3 | g.122284283A>G | CA354159535 | CASR | c.2098A>G (p.Ile700Val) c.2359A>G (p.Ile787Val) c.2329A>G (p.Ile777Val) c.1846A>G (p.Ile616Val) c.1741A>G (p.Ile581Val) | |
| 3 | g.122284283A>T | CA354159537 | CASR | c.2098A>T (p.Ile700Phe) c.2359A>T (p.Ile787Phe) c.2329A>T (p.Ile777Phe) c.1846A>T (p.Ile616Phe) c.1741A>T (p.Ile581Phe) | |
| 3 | g.122284284T>A | CA354159540 | CASR | c.2099T>A (p.Ile700Asn) c.2360T>A (p.Ile787Asn) c.2330T>A (p.Ile777Asn) c.1847T>A (p.Ile616Asn) c.1742T>A (p.Ile581Asn) | |
| 3 | g.122284284T>C | CA354159542 | CASR | c.2099T>C (p.Ile700Thr) c.2360T>C (p.Ile787Thr) c.2330T>C (p.Ile777Thr) c.1847T>C (p.Ile616Thr) c.1742T>C (p.Ile581Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284284T>G | CA354159544 | CASR | c.2099T>G (p.Ile700Ser) c.2360T>G (p.Ile787Ser) c.2330T>G (p.Ile777Ser) c.1847T>G (p.Ile616Ser) c.1742T>G (p.Ile581Ser) | |
| 3 | g.122284284T= | CA1397872094 | CASR | c.2099T= (p.Ile700=) c.2360T= (p.Ile787=) c.2330T= (p.Ile777=) c.1847T= (p.Ile616=) c.1742T= (p.Ile581=) | |
| 3 | g.122284285C>A | CA435424930 | CASR | c.2100C>A (p.Ile700=) c.2361C>A (p.Ile787=) c.2331C>A (p.Ile777=) c.1848C>A (p.Ile616=) c.1743C>A (p.Ile581=) | |
| 3 | g.122284285C= | CA1397872100 | CASR | c.2100C= (p.Ile700=) c.2361C= (p.Ile787=) c.2331C= (p.Ile777=) c.1848C= (p.Ile616=) c.1743C= (p.Ile581=) | |
| 3 | g.122284285C>G | CA354159546 | CASR | c.2100C>G (p.Ile700Met) c.2361C>G (p.Ile787Met) c.2331C>G (p.Ile777Met) c.1848C>G (p.Ile616Met) c.1743C>G (p.Ile581Met) | |
| 3 | g.122284285C>T | CA2569816 | CASR | c.2100C>T (p.Ile700=) c.2361C>T (p.Ile787=) c.2331C>T (p.Ile777=) c.1848C>T (p.Ile616=) c.1743C>T (p.Ile581=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284285_122284286insAGC | CA2586972869 | CASR | c.2100_2101insAGC (p.Ile700_Gly701insSer) c.2361_2362insAGC (p.Ile787_Gly788insSer) c.2331_2332insAGC (p.Ile777_Gly778insSer) c.1848_1849insAGC (p.Ile616_Gly617insSer) c.1743_1744insAGC (p.Ile581_Gly582insSer) | |
| 3 | g.122284286G>A | CA354159548 | CASR | c.2101G>A (p.Gly701Ser) c.2362G>A (p.Gly788Ser) c.2332G>A (p.Gly778Ser) c.1849G>A (p.Gly617Ser) c.1744G>A (p.Gly582Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284286G>C | CA354159549 | CASR | c.2101G>C (p.Gly701Arg) c.2362G>C (p.Gly788Arg) c.2332G>C (p.Gly778Arg) c.1849G>C (p.Gly617Arg) c.1744G>C (p.Gly582Arg) | ClinVar dbSNP |
| 3 | g.122284286G= | CA1397872104 | CASR | c.2101G= (p.Gly701=) c.2362G= (p.Gly788=) c.2332G= (p.Gly778=) c.1849G= (p.Gly617=) c.1744G= (p.Gly582=) | |
| 3 | g.122284286G>T | CA354159550 | CASR | c.2101G>T (p.Gly701Cys) c.2362G>T (p.Gly788Cys) c.2332G>T (p.Gly778Cys) c.1849G>T (p.Gly617Cys) c.1744G>T (p.Gly582Cys) | ClinVar gnomAD v4 |
| 3 | g.122284287G>A | CA354159552 | CASR | c.2102G>A (p.Gly701Asp) c.2363G>A (p.Gly788Asp) c.2333G>A (p.Gly778Asp) c.1850G>A (p.Gly617Asp) c.1745G>A (p.Gly582Asp) | ClinVar dbSNP |
| 3 | g.122284287G>C | CA354159553 | CASR | c.2102G>C (p.Gly701Ala) c.2363G>C (p.Gly788Ala) c.2333G>C (p.Gly778Ala) c.1850G>C (p.Gly617Ala) c.1745G>C (p.Gly582Ala) | |
| 3 | g.122284287G= | CA1397872107 | CASR | c.2102G= (p.Gly701=) c.2363G= (p.Gly788=) c.2333G= (p.Gly778=) c.1850G= (p.Gly617=) c.1745G= (p.Gly582=) | |
| 3 | g.122284287G>T | CA354159555 | CASR | c.2102G>T (p.Gly701Val) c.2363G>T (p.Gly788Val) c.2333G>T (p.Gly778Val) c.1850G>T (p.Gly617Val) c.1745G>T (p.Gly582Val) | |
| 3 | g.122284288del | CA2586972870 | CASR | c.2103del (p.Tyr702ThrfsTer?) c.2364del (p.Tyr789ThrfsTer?) c.2334del (p.Tyr779ThrfsTer?) c.1851del (p.Tyr618ThrfsTer?) c.1746del (p.Tyr583ThrfsTer?) | |
| 3 | g.122284288C>A | CA435424935 | CASR | c.2103C>A (p.Gly701=) c.2364C>A (p.Gly788=) c.2334C>A (p.Gly778=) c.1851C>A (p.Gly617=) c.1746C>A (p.Gly582=) | |
| 3 | g.122284288C= | CA1397872110 | CASR | c.2103C= (p.Gly701=) c.2364C= (p.Gly788=) c.2334C= (p.Gly778=) c.1851C= (p.Gly617=) c.1746C= (p.Gly582=) | |
| 3 | g.122284288C>G | CA435424936 | CASR | c.2103C>G (p.Gly701=) c.2364C>G (p.Gly788=) c.2334C>G (p.Gly778=) c.1851C>G (p.Gly617=) c.1746C>G (p.Gly582=) | |
| 3 | g.122284288C>T | CA435424937 | CASR | c.2103C>T (p.Gly701=) c.2364C>T (p.Gly788=) c.2334C>T (p.Gly778=) c.1851C>T (p.Gly617=) c.1746C>T (p.Gly582=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |