Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122284337del | CA2580068645 | CASR | c.2152del (p.Arg718GlyfsTer?) c.2413del (p.Arg805GlyfsTer?) c.2383del (p.Arg795GlyfsTer?) c.1900del (p.Arg634GlyfsTer?) c.1795del (p.Arg599GlyfsTer?) | ClinVar dbSNP |
3 | g.122284337C>A | CA435425159 | CASR | c.2152C>A (p.Arg718=) c.2413C>A (p.Arg805=) c.2383C>A (p.Arg795=) c.1900C>A (p.Arg634=) c.1795C>A (p.Arg599=) | gnomAD v4 |
3 | g.122284337C= | CA1397872200 | CASR | c.2152C= (p.Arg718=) c.2413C= (p.Arg805=) c.2383C= (p.Arg795=) c.1900C= (p.Arg634=) c.1795C= (p.Arg599=) | |
3 | g.122284337C>G | CA354159678 | CASR | c.2152C>G (p.Arg718Gly) c.2413C>G (p.Arg805Gly) c.2383C>G (p.Arg795Gly) c.1900C>G (p.Arg634Gly) c.1795C>G (p.Arg599Gly) | ClinVar dbSNP |
3 | g.122284337C>T | CA119467 | CASR | c.2152C>T (p.Arg718Trp) c.2413C>T (p.Arg805Trp) c.2383C>T (p.Arg795Trp) c.1900C>T (p.Arg634Trp) c.1795C>T (p.Arg599Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284338G>A | CA82748943 | CASR | c.2153G>A (p.Arg718Gln) c.2414G>A (p.Arg805Gln) c.2384G>A (p.Arg795Gln) c.1901G>A (p.Arg634Gln) c.1796G>A (p.Arg599Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.122284338G>C | CA354159679 | CASR | c.2153G>C (p.Arg718Pro) c.2414G>C (p.Arg805Pro) c.2384G>C (p.Arg795Pro) c.1901G>C (p.Arg634Pro) c.1796G>C (p.Arg599Pro) | |
3 | g.122284338G= | CA1397872205 | CASR | c.2153G= (p.Arg718=) c.2414G= (p.Arg805=) c.2384G= (p.Arg795=) c.1901G= (p.Arg634=) c.1796G= (p.Arg599=) | |
3 | g.122284338G>T | CA354159680 | CASR | c.2153G>T (p.Arg718Leu) c.2414G>T (p.Arg805Leu) c.2384G>T (p.Arg795Leu) c.1901G>T (p.Arg634Leu) c.1796G>T (p.Arg599Leu) | ClinVar dbSNP |
3 | g.122284339G>A | CA435425160 | CASR | c.2154G>A (p.Arg718=) c.2415G>A (p.Arg805=) c.2385G>A (p.Arg795=) c.1902G>A (p.Arg634=) c.1797G>A (p.Arg599=) | dbSNP |
3 | g.122284339G>C | CA435425161 | CASR | c.2154G>C (p.Arg718=) c.2415G>C (p.Arg805=) c.2385G>C (p.Arg795=) c.1902G>C (p.Arg634=) c.1797G>C (p.Arg599=) | |
3 | g.122284339G= | CA1397872209 | CASR | c.2154G= (p.Arg718=) c.2415G= (p.Arg805=) c.2385G= (p.Arg795=) c.1902G= (p.Arg634=) c.1797G= (p.Arg599=) | |
3 | g.122284339G>T | CA435425163 | CASR | c.2154G>T (p.Arg718=) c.2415G>T (p.Arg805=) c.2385G>T (p.Arg795=) c.1902G>T (p.Arg634=) c.1797G>T (p.Arg599=) | |
3 | g.122284340A>C | CA354159682 | CASR | c.2155A>C (p.Lys719Gln) c.2416A>C (p.Lys806Gln) c.2386A>C (p.Lys796Gln) c.1903A>C (p.Lys635Gln) c.1798A>C (p.Lys600Gln) | |
3 | g.122284340A>G | CA354159683 | CASR | c.2155A>G (p.Lys719Glu) c.2416A>G (p.Lys806Glu) c.2386A>G (p.Lys796Glu) c.1903A>G (p.Lys635Glu) c.1798A>G (p.Lys600Glu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284340A>T | CA354159681 | CASR | c.2155A>T (p.Lys719Ter) c.2416A>T (p.Lys806Ter) c.2386A>T (p.Lys796Ter) c.1903A>T (p.Lys635Ter) c.1798A>T (p.Lys600Ter) | COSMIC |
3 | g.122284341A>C | CA354159686 | CASR | c.2156A>C (p.Lys719Thr) c.2417A>C (p.Lys806Thr) c.2387A>C (p.Lys796Thr) c.1904A>C (p.Lys635Thr) c.1799A>C (p.Lys600Thr) | |
3 | g.122284341A>G | CA354159684 | CASR | c.2156A>G (p.Lys719Arg) c.2417A>G (p.Lys806Arg) c.2387A>G (p.Lys796Arg) c.1904A>G (p.Lys635Arg) c.1799A>G (p.Lys600Arg) | |
3 | g.122284341A>T | CA354159685 | CASR | c.2156A>T (p.Lys719Met) c.2417A>T (p.Lys806Met) c.2387A>T (p.Lys796Met) c.1904A>T (p.Lys635Met) c.1799A>T (p.Lys600Met) | |
3 | g.122284342G>A | CA2569820 | CASR | c.2157G>A (p.Lys719=) c.2418G>A (p.Lys806=) c.2388G>A (p.Lys796=) c.1905G>A (p.Lys635=) c.1800G>A (p.Lys600=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284342G>C | CA354159687 | CASR | c.2157G>C (p.Lys719Asn) c.2418G>C (p.Lys806Asn) c.2388G>C (p.Lys796Asn) c.1905G>C (p.Lys635Asn) c.1800G>C (p.Lys600Asn) | |
3 | g.122284342G= | CA1397872216 | CASR | c.2157G= (p.Lys719=) c.2418G= (p.Lys806=) c.2388G= (p.Lys796=) c.1905G= (p.Lys635=) c.1800G= (p.Lys600=) | |
3 | g.122284342G>T | CA354159688 | CASR | c.2157G>T (p.Lys719Asn) c.2418G>T (p.Lys806Asn) c.2388G>T (p.Lys796Asn) c.1905G>T (p.Lys635Asn) c.1800G>T (p.Lys600Asn) | |
3 | g.122284343C>A | CA354159689 | CASR | c.2158C>A (p.Leu720Met) c.2419C>A (p.Leu807Met) c.2389C>A (p.Leu797Met) c.1906C>A (p.Leu636Met) c.1801C>A (p.Leu601Met) | ClinVar dbSNP |
3 | g.122284343C= | CA1397872218 | CASR | c.2158C= (p.Leu720=) c.2419C= (p.Leu807=) c.2389C= (p.Leu797=) c.1906C= (p.Leu636=) c.1801C= (p.Leu601=) | |
3 | g.122284343C>G | CA354159690 | CASR | c.2158C>G (p.Leu720Val) c.2419C>G (p.Leu807Val) c.2389C>G (p.Leu797Val) c.1906C>G (p.Leu636Val) c.1801C>G (p.Leu601Val) | |
3 | g.122284343C>T | CA82748950 | CASR | c.2158C>T (p.Leu720=) c.2419C>T (p.Leu807=) c.2389C>T (p.Leu797=) c.1906C>T (p.Leu636=) c.1801C>T (p.Leu601=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284344T>A | CA354159691 | CASR | c.2159T>A (p.Leu720Gln) c.2420T>A (p.Leu807Gln) c.2390T>A (p.Leu797Gln) c.1907T>A (p.Leu636Gln) c.1802T>A (p.Leu601Gln) | |
3 | g.122284344T>C | CA354159692 | CASR | c.2159T>C (p.Leu720Pro) c.2420T>C (p.Leu807Pro) c.2390T>C (p.Leu797Pro) c.1907T>C (p.Leu636Pro) c.1802T>C (p.Leu601Pro) | |
3 | g.122284344T>G | CA354159693 | CASR | c.2159T>G (p.Leu720Arg) c.2420T>G (p.Leu807Arg) c.2390T>G (p.Leu797Arg) c.1907T>G (p.Leu636Arg) c.1802T>G (p.Leu601Arg) | |
3 | g.122284345G>A | CA435425169 | CASR | c.2160G>A (p.Leu720=) c.2421G>A (p.Leu807=) c.2391G>A (p.Leu797=) c.1908G>A (p.Leu636=) c.1803G>A (p.Leu601=) | |
3 | g.122284345G>C | CA435425171 | CASR | c.2160G>C (p.Leu720=) c.2421G>C (p.Leu807=) c.2391G>C (p.Leu797=) c.1908G>C (p.Leu636=) c.1803G>C (p.Leu601=) | |
3 | g.122284345G= | CA1397872223 | CASR | c.2160G= (p.Leu720=) c.2421G= (p.Leu807=) c.2391G= (p.Leu797=) c.1908G= (p.Leu636=) c.1803G= (p.Leu601=) | |
3 | g.122284345G>T | CA435425170 | CASR | c.2160G>T (p.Leu720=) c.2421G>T (p.Leu807=) c.2391G>T (p.Leu797=) c.1908G>T (p.Leu636=) c.1803G>T (p.Leu601=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284346C>A | CA354159696 | CASR | c.2161C>A (p.Pro721Thr) c.2422C>A (p.Pro808Thr) c.2392C>A (p.Pro798Thr) c.1909C>A (p.Pro637Thr) c.1804C>A (p.Pro602Thr) | |
3 | g.122284346C= | CA1397872228 | CASR | c.2161C= (p.Pro721=) c.2422C= (p.Pro808=) c.2392C= (p.Pro798=) c.1909C= (p.Pro637=) c.1804C= (p.Pro602=) | |
3 | g.122284346C>G | CA354159695 | CASR | c.2161C>G (p.Pro721Ala) c.2422C>G (p.Pro808Ala) c.2392C>G (p.Pro798Ala) c.1909C>G (p.Pro637Ala) c.1804C>G (p.Pro602Ala) | |
3 | g.122284346C>T | CA354159694 | CASR | c.2161C>T (p.Pro721Ser) c.2422C>T (p.Pro808Ser) c.2392C>T (p.Pro798Ser) c.1909C>T (p.Pro637Ser) c.1804C>T (p.Pro602Ser) | ClinVar dbSNP |
3 | g.122284347C>A | CA354159697 | CASR | c.2162C>A (p.Pro721Gln) c.2423C>A (p.Pro808Gln) c.2393C>A (p.Pro798Gln) c.1910C>A (p.Pro637Gln) c.1805C>A (p.Pro602Gln) | |
3 | g.122284347C= | CA1397872237 | CASR | c.2162C= (p.Pro721=) c.2423C= (p.Pro808=) c.2393C= (p.Pro798=) c.1910C= (p.Pro637=) c.1805C= (p.Pro602=) | |
3 | g.122284347C>G | CA354159698 | CASR | c.2162C>G (p.Pro721Arg) c.2423C>G (p.Pro808Arg) c.2393C>G (p.Pro798Arg) c.1910C>G (p.Pro637Arg) c.1805C>G (p.Pro602Arg) | ClinVar dbSNP |
3 | g.122284347C>T | CA16611130 | CASR | c.2162C>T (p.Pro721Leu) c.2423C>T (p.Pro808Leu) c.2393C>T (p.Pro798Leu) c.1910C>T (p.Pro637Leu) c.1805C>T (p.Pro602Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.122284348G>A | CA435425176 | CASR | c.2163G>A (p.Pro721=) c.2424G>A (p.Pro808=) c.2394G>A (p.Pro798=) c.1911G>A (p.Pro637=) c.1806G>A (p.Pro602=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284348G>C | CA435425179 | CASR | c.2163G>C (p.Pro721=) c.2424G>C (p.Pro808=) c.2394G>C (p.Pro798=) c.1911G>C (p.Pro637=) c.1806G>C (p.Pro602=) | |
3 | g.122284348G= | CA1397872245 | CASR | c.2163G= (p.Pro721=) c.2424G= (p.Pro808=) c.2394G= (p.Pro798=) c.1911G= (p.Pro637=) c.1806G= (p.Pro602=) | |
3 | g.122284348G>T | CA435425181 | CASR | c.2163G>T (p.Pro721=) c.2424G>T (p.Pro808=) c.2394G>T (p.Pro798=) c.1911G>T (p.Pro637=) c.1806G>T (p.Pro602=) | |
3 | g.122284349G>A | CA354159699 | CASR | c.2164G>A (p.Glu722Lys) c.2425G>A (p.Glu809Lys) c.2395G>A (p.Glu799Lys) c.1912G>A (p.Glu638Lys) c.1807G>A (p.Glu603Lys) | COSMIC |
3 | g.122284349G>C | CA354159700 | CASR | c.2164G>C (p.Glu722Gln) c.2425G>C (p.Glu809Gln) c.2395G>C (p.Glu799Gln) c.1912G>C (p.Glu638Gln) c.1807G>C (p.Glu603Gln) | |
3 | g.122284349G>T | CA354159701 | CASR | c.2164G>T (p.Glu722Ter) c.2425G>T (p.Glu809Ter) c.2395G>T (p.Glu799Ter) c.1912G>T (p.Glu638Ter) c.1807G>T (p.Glu603Ter) | |
3 | g.122284350A>C | CA354159702 | CASR | c.2165A>C (p.Glu722Ala) c.2426A>C (p.Glu809Ala) c.2396A>C (p.Glu799Ala) c.1913A>C (p.Glu638Ala) c.1808A>C (p.Glu603Ala) |