OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284331A>C | CA354159664 | CASR | c.2146A>C (p.Lys716Gln) c.2407A>C (p.Lys803Gln) c.2377A>C (p.Lys793Gln) c.1894A>C (p.Lys632Gln) c.1789A>C (p.Lys597Gln) | |
| 3 | g.122284331A>G | CA354159665 | CASR | c.2146A>G (p.Lys716Glu) c.2407A>G (p.Lys803Glu) c.2377A>G (p.Lys793Glu) c.1894A>G (p.Lys632Glu) c.1789A>G (p.Lys597Glu) | |
| 3 | g.122284331A>T | CA354159666 | CASR | c.2146A>T (p.Lys716Ter) c.2407A>T (p.Lys803Ter) c.2377A>T (p.Lys793Ter) c.1894A>T (p.Lys632Ter) c.1789A>T (p.Lys597Ter) | |
| 3 | g.122284332A>C | CA354159669 | CASR | c.2147A>C (p.Lys716Thr) c.2408A>C (p.Lys803Thr) c.2378A>C (p.Lys793Thr) c.1895A>C (p.Lys632Thr) c.1790A>C (p.Lys597Thr) | |
| 3 | g.122284332A>G | CA354159668 | CASR | c.2147A>G (p.Lys716Arg) c.2408A>G (p.Lys803Arg) c.2378A>G (p.Lys793Arg) c.1895A>G (p.Lys632Arg) c.1790A>G (p.Lys597Arg) | |
| 3 | g.122284332A>T | CA354159667 | CASR | c.2147A>T (p.Lys716Met) c.2408A>T (p.Lys803Met) c.2378A>T (p.Lys793Met) c.1895A>T (p.Lys632Met) c.1790A>T (p.Lys597Met) | ClinVar |
| 3 | g.122284333G>A | CA435425151 | CASR | c.2148G>A (p.Lys716=) c.2409G>A (p.Lys803=) c.2379G>A (p.Lys793=) c.1896G>A (p.Lys632=) c.1791G>A (p.Lys597=) | ClinVar dbSNP |
| 3 | g.122284333G>C | CA354159670 | CASR | c.2148G>C (p.Lys716Asn) c.2409G>C (p.Lys803Asn) c.2379G>C (p.Lys793Asn) c.1896G>C (p.Lys632Asn) c.1791G>C (p.Lys597Asn) | |
| 3 | g.122284333G>T | CA354159671 | CASR | c.2148G>T (p.Lys716Asn) c.2409G>T (p.Lys803Asn) c.2379G>T (p.Lys793Asn) c.1896G>T (p.Lys632Asn) c.1791G>T (p.Lys597Asn) | |
| 3 | g.122284334T>A | CA354159672 | CASR | c.2149T>A (p.Ser717Thr) c.2410T>A (p.Ser804Thr) c.2380T>A (p.Ser794Thr) c.1897T>A (p.Ser633Thr) c.1792T>A (p.Ser598Thr) | |
| 3 | g.122284334T>C | CA354159673 | CASR | c.2149T>C (p.Ser717Pro) c.2410T>C (p.Ser804Pro) c.2380T>C (p.Ser794Pro) c.1897T>C (p.Ser633Pro) c.1792T>C (p.Ser598Pro) | |
| 3 | g.122284334T>G | CA354159674 | CASR | c.2149T>G (p.Ser717Ala) c.2410T>G (p.Ser804Ala) c.2380T>G (p.Ser794Ala) c.1897T>G (p.Ser633Ala) c.1792T>G (p.Ser598Ala) | ClinVar |
| 3 | g.122284335C>A | CA354159675 | CASR | c.2150C>A (p.Ser717Tyr) c.2411C>A (p.Ser804Tyr) c.2381C>A (p.Ser794Tyr) c.1898C>A (p.Ser633Tyr) c.1793C>A (p.Ser598Tyr) | |
| 3 | g.122284335C>G | CA354159676 | CASR | c.2150C>G (p.Ser717Cys) c.2411C>G (p.Ser804Cys) c.2381C>G (p.Ser794Cys) c.1898C>G (p.Ser633Cys) c.1793C>G (p.Ser598Cys) | |
| 3 | g.122284335C>T | CA354159677 | CASR | c.2150C>T (p.Ser717Phe) c.2411C>T (p.Ser804Phe) c.2381C>T (p.Ser794Phe) c.1898C>T (p.Ser633Phe) c.1793C>T (p.Ser598Phe) | gnomAD v4 |
| 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.122284336C>A | CA435425153 | CASR | c.2151C>A (p.Ser717=) c.2412C>A (p.Ser804=) c.2382C>A (p.Ser794=) c.1899C>A (p.Ser633=) c.1794C>A (p.Ser598=) | |
| 3 | g.122284336C>G | CA435425154 | CASR | c.2151C>G (p.Ser717=) c.2412C>G (p.Ser804=) c.2382C>G (p.Ser794=) c.1899C>G (p.Ser633=) c.1794C>G (p.Ser598=) | |
| 3 | g.122284336C>T | CA435425156 | CASR | c.2151C>T (p.Ser717=) c.2412C>T (p.Ser804=) c.2382C>T (p.Ser794=) c.1899C>T (p.Ser633=) c.1794C>T (p.Ser598=) | ClinVar |
| 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) | ClinVar |
| 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) | |
| 3 | g.122284350A>G | CA354159703 | CASR | c.2165A>G (p.Glu722Gly) c.2426A>G (p.Glu809Gly) c.2396A>G (p.Glu799Gly) c.1913A>G (p.Glu638Gly) c.1808A>G (p.Glu603Gly) | |
| 3 | g.122284350A>T | CA354159704 | CASR | c.2165A>T (p.Glu722Val) c.2426A>T (p.Glu809Val) c.2396A>T (p.Glu799Val) c.1913A>T (p.Glu638Val) c.1808A>T (p.Glu603Val) | |
| 3 | g.122284351G>A | CA2569821 | CASR | c.2166G>A (p.Glu722=) c.2427G>A (p.Glu809=) c.2397G>A (p.Glu799=) c.1914G>A (p.Glu638=) c.1809G>A (p.Glu603=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284351G>C | CA354159705 | CASR | c.2166G>C (p.Glu722Asp) c.2427G>C (p.Glu809Asp) c.2397G>C (p.Glu799Asp) c.1914G>C (p.Glu638Asp) c.1809G>C (p.Glu603Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284351G= | CA1397872247 | CASR | c.2166G= (p.Glu722=) c.2427G= (p.Glu809=) c.2397G= (p.Glu799=) c.1914G= (p.Glu638=) c.1809G= (p.Glu603=) | |
| 3 | g.122284351G>T | CA354159706 | CASR | c.2166G>T (p.Glu722Asp) c.2427G>T (p.Glu809Asp) c.2397G>T (p.Glu799Asp) c.1914G>T (p.Glu638Asp) c.1809G>T (p.Glu603Asp) | |
| 3 | g.122284352A>C | CA354159708 | CASR | c.2167A>C (p.Asn723His) c.2428A>C (p.Asn810His) c.2398A>C (p.Asn800His) c.1915A>C (p.Asn639His) c.1810A>C (p.Asn604His) | |
| 3 | g.122284352A>G | CA354159709 | CASR | c.2167A>G (p.Asn723Asp) c.2428A>G (p.Asn810Asp) c.2398A>G (p.Asn800Asp) c.1915A>G (p.Asn639Asp) c.1810A>G (p.Asn604Asp) | |
| 3 | g.122284352A>T | CA354159707 | CASR | c.2167A>T (p.Asn723Tyr) c.2428A>T (p.Asn810Tyr) c.2398A>T (p.Asn800Tyr) c.1915A>T (p.Asn639Tyr) c.1810A>T (p.Asn604Tyr) | |
| 3 | g.122284353A>C | CA354159710 | CASR | c.2168A>C (p.Asn723Thr) c.2429A>C (p.Asn810Thr) c.2399A>C (p.Asn800Thr) c.1916A>C (p.Asn639Thr) c.1811A>C (p.Asn604Thr) | |
| 3 | g.122284353A>G | CA354159711 | CASR | c.2168A>G (p.Asn723Ser) c.2429A>G (p.Asn810Ser) c.2399A>G (p.Asn800Ser) c.1916A>G (p.Asn639Ser) c.1811A>G (p.Asn604Ser) | |
| 3 | g.122284353A>T | CA354159712 | CASR | c.2168A>T (p.Asn723Ile) c.2429A>T (p.Asn810Ile) c.2399A>T (p.Asn800Ile) c.1916A>T (p.Asn639Ile) c.1811A>T (p.Asn604Ile) | |
| 3 | g.122284354C>A | CA354159713 | CASR | c.2169C>A (p.Asn723Lys) c.2430C>A (p.Asn810Lys) c.2400C>A (p.Asn800Lys) c.1917C>A (p.Asn639Lys) c.1812C>A (p.Asn604Lys) | |
| 3 | g.122284354C>G | CA354159714 | CASR | c.2169C>G (p.Asn723Lys) c.2430C>G (p.Asn810Lys) c.2400C>G (p.Asn800Lys) c.1917C>G (p.Asn639Lys) c.1812C>G (p.Asn604Lys) | |
| 3 | g.122284354C>T | CA435425191 | CASR | c.2169C>T (p.Asn723=) c.2430C>T (p.Asn810=) c.2400C>T (p.Asn800=) c.1917C>T (p.Asn639=) c.1812C>T (p.Asn604=) | COSMIC |
| 3 | g.122284355T>A | CA354159715 | CASR | c.2170T>A (p.Phe724Ile) c.2431T>A (p.Phe811Ile) c.2401T>A (p.Phe801Ile) c.1918T>A (p.Phe640Ile) c.1813T>A (p.Phe605Ile) | |
| 3 | g.122284355T>C | CA354159716 | CASR | c.2170T>C (p.Phe724Leu) c.2431T>C (p.Phe811Leu) c.2401T>C (p.Phe801Leu) c.1918T>C (p.Phe640Leu) c.1813T>C (p.Phe605Leu) | |
| 3 | g.122284355T>G | CA354159717 | CASR | c.2170T>G (p.Phe724Val) c.2431T>G (p.Phe811Val) c.2401T>G (p.Phe801Val) c.1918T>G (p.Phe640Val) c.1813T>G (p.Phe605Val) | |
| 3 | g.122284356T>A | CA354159718 | CASR | c.2171T>A (p.Phe724Tyr) c.2432T>A (p.Phe811Tyr) c.2402T>A (p.Phe801Tyr) c.1919T>A (p.Phe640Tyr) c.1814T>A (p.Phe605Tyr) | gnomAD v4 |
| 3 | g.122284356T>C | CA354159719 | CASR | c.2171T>C (p.Phe724Ser) c.2432T>C (p.Phe811Ser) c.2402T>C (p.Phe801Ser) c.1919T>C (p.Phe640Ser) c.1814T>C (p.Phe605Ser) | |
| 3 | g.122284356T>G | CA354159720 | CASR | c.2171T>G (p.Phe724Cys) c.2432T>G (p.Phe811Cys) c.2402T>G (p.Phe801Cys) c.1919T>G (p.Phe640Cys) c.1814T>G (p.Phe605Cys) | |
| 3 | g.122284357C>A | CA354159721 | CASR | c.2172C>A (p.Phe724Leu) c.2433C>A (p.Phe811Leu) c.2403C>A (p.Phe801Leu) c.1920C>A (p.Phe640Leu) c.1815C>A (p.Phe605Leu) | |
| 3 | g.122284357C>G | CA354159722 | CASR | c.2172C>G (p.Phe724Leu) c.2433C>G (p.Phe811Leu) c.2403C>G (p.Phe801Leu) c.1920C>G (p.Phe640Leu) c.1815C>G (p.Phe605Leu) | |
| 3 | g.122284357C>T | CA435425196 | CASR | c.2172C>T (p.Phe724=) c.2433C>T (p.Phe811=) c.2403C>T (p.Phe801=) c.1920C>T (p.Phe640=) c.1815C>T (p.Phe605=) | |
| 3 | g.122284358A= | CA1397872251 | CASR | c.2173A= (p.Asn725=) c.2434A= (p.Asn812=) c.2404A= (p.Asn802=) c.1921A= (p.Asn641=) c.1816A= (p.Asn606=) | |
| 3 | g.122284358A>C | CA354159725 | CASR | c.2173A>C (p.Asn725His) c.2434A>C (p.Asn812His) c.2404A>C (p.Asn802His) c.1921A>C (p.Asn641His) c.1816A>C (p.Asn606His) | ClinVar dbSNP |
| 3 | g.122284358A>G | CA354159724 | CASR | c.2173A>G (p.Asn725Asp) c.2434A>G (p.Asn812Asp) c.2404A>G (p.Asn802Asp) c.1921A>G (p.Asn641Asp) c.1816A>G (p.Asn606Asp) | ClinVar dbSNP |
| 3 | g.122284358A>T | CA354159723 | CASR | c.2173A>T (p.Asn725Tyr) c.2434A>T (p.Asn812Tyr) c.2404A>T (p.Asn802Tyr) c.1921A>T (p.Asn641Tyr) c.1816A>T (p.Asn606Tyr) | |
| 3 | g.122284359A= | CA1397872256 | CASR | c.2174A= (p.Asn725=) c.2435A= (p.Asn812=) c.2405A= (p.Asn802=) c.1922A= (p.Asn641=) c.1817A= (p.Asn606=) | |
| 3 | g.122284359A>C | CA354159726 | CASR | c.2174A>C (p.Asn725Thr) c.2435A>C (p.Asn812Thr) c.2405A>C (p.Asn802Thr) c.1922A>C (p.Asn641Thr) c.1817A>C (p.Asn606Thr) | |
| 3 | g.122284359A>G | CA2569822 | CASR | c.2174A>G (p.Asn725Ser) c.2435A>G (p.Asn812Ser) c.2405A>G (p.Asn802Ser) c.1922A>G (p.Asn641Ser) c.1817A>G (p.Asn606Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284359A>T | CA354159727 | CASR | c.2174A>T (p.Asn725Ile) c.2435A>T (p.Asn812Ile) c.2405A>T (p.Asn802Ile) c.1922A>T (p.Asn641Ile) c.1817A>T (p.Asn606Ile) | |
| 3 | g.122284360T>A | CA354159728 | CASR | c.2175T>A (p.Asn725Lys) c.2436T>A (p.Asn812Lys) c.2406T>A (p.Asn802Lys) c.1923T>A (p.Asn641Lys) c.1818T>A (p.Asn606Lys) | |
| 3 | g.122284360T>C | CA435425199 | CASR | c.2175T>C (p.Asn725=) c.2436T>C (p.Asn812=) c.2406T>C (p.Asn802=) c.1923T>C (p.Asn641=) c.1818T>C (p.Asn606=) | ClinVar COSMIC |
| 3 | g.122284360T>G | CA354159729 | CASR | c.2175T>G (p.Asn725Lys) c.2436T>G (p.Asn812Lys) c.2406T>G (p.Asn802Lys) c.1923T>G (p.Asn641Lys) c.1818T>G (p.Asn606Lys) | |
| 3 | g.122284361G>A | CA354159730 | CASR | c.2176G>A (p.Glu726Lys) c.2437G>A (p.Glu813Lys) c.2407G>A (p.Glu803Lys) c.1924G>A (p.Glu642Lys) c.1819G>A (p.Glu607Lys) | |
| 3 | g.122284361G>C | CA354159731 | CASR | c.2176G>C (p.Glu726Gln) c.2437G>C (p.Glu813Gln) c.2407G>C (p.Glu803Gln) c.1924G>C (p.Glu642Gln) c.1819G>C (p.Glu607Gln) | |
| 3 | g.122284361G>T | CA354159732 | CASR | c.2176G>T (p.Glu726Ter) c.2437G>T (p.Glu813Ter) c.2407G>T (p.Glu803Ter) c.1924G>T (p.Glu642Ter) c.1819G>T (p.Glu607Ter) | |
| 3 | g.122284362A>C | CA354159733 | CASR | c.2177A>C (p.Glu726Ala) c.2438A>C (p.Glu813Ala) c.2408A>C (p.Glu803Ala) c.1925A>C (p.Glu642Ala) c.1820A>C (p.Glu607Ala) | |
| 3 | g.122284362A>G | CA354159734 | CASR | c.2177A>G (p.Glu726Gly) c.2438A>G (p.Glu813Gly) c.2408A>G (p.Glu803Gly) c.1925A>G (p.Glu642Gly) c.1820A>G (p.Glu607Gly) | gnomAD v4 |
| 3 | g.122284362A>T | CA354159735 | CASR | c.2177A>T (p.Glu726Val) c.2438A>T (p.Glu813Val) c.2408A>T (p.Glu803Val) c.1925A>T (p.Glu642Val) c.1820A>T (p.Glu607Val) | |
| 3 | g.122284363A>C | CA354159736 | CASR | c.2178A>C (p.Glu726Asp) c.2439A>C (p.Glu813Asp) c.2409A>C (p.Glu803Asp) c.1926A>C (p.Glu642Asp) c.1821A>C (p.Glu607Asp) | |
| 3 | g.122284363A>G | CA435425207 | CASR | c.2178A>G (p.Glu726=) c.2439A>G (p.Glu813=) c.2409A>G (p.Glu803=) c.1926A>G (p.Glu642=) c.1821A>G (p.Glu607=) | ClinVar |
| 3 | g.122284363A>T | CA354159737 | CASR | c.2178A>T (p.Glu726Asp) c.2439A>T (p.Glu813Asp) c.2409A>T (p.Glu803Asp) c.1926A>T (p.Glu642Asp) c.1821A>T (p.Glu607Asp) | |
| 3 | g.122284364G>A | CA354159739 | CASR | c.2179G>A (p.Ala727Thr) c.2440G>A (p.Ala814Thr) c.2410G>A (p.Ala804Thr) c.1927G>A (p.Ala643Thr) c.1822G>A (p.Ala608Thr) | ClinVar dbSNP |
| 3 | g.122284364G>C | CA354159738 | CASR | c.2179G>C (p.Ala727Pro) c.2440G>C (p.Ala814Pro) c.2410G>C (p.Ala804Pro) c.1927G>C (p.Ala643Pro) c.1822G>C (p.Ala608Pro) | |
| 3 | g.122284364G= | CA1397872264 | CASR | c.2179G= (p.Ala727=) c.2440G= (p.Ala814=) c.2410G= (p.Ala804=) c.1927G= (p.Ala643=) c.1822G= (p.Ala608=) | |
| 3 | g.122284364G>T | CA2569823 | CASR | c.2179G>T (p.Ala727Ser) c.2440G>T (p.Ala814Ser) c.2410G>T (p.Ala804Ser) c.1927G>T (p.Ala643Ser) c.1822G>T (p.Ala608Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284365C>A | CA354159740 | CASR | c.2180C>A (p.Ala727Asp) c.2441C>A (p.Ala814Asp) c.2411C>A (p.Ala804Asp) c.1928C>A (p.Ala643Asp) c.1823C>A (p.Ala608Asp) | |
| 3 | g.122284365C>G | CA354159742 | CASR | c.2180C>G (p.Ala727Gly) c.2441C>G (p.Ala814Gly) c.2411C>G (p.Ala804Gly) c.1928C>G (p.Ala643Gly) c.1823C>G (p.Ala608Gly) | |
| 3 | g.122284365C>T | CA354159741 | CASR | c.2180C>T (p.Ala727Val) c.2441C>T (p.Ala814Val) c.2411C>T (p.Ala804Val) c.1928C>T (p.Ala643Val) c.1823C>T (p.Ala608Val) | |
| 3 | g.122284366C>A | CA435425210 | CASR | c.2181C>A (p.Ala727=) c.2442C>A (p.Ala814=) c.2412C>A (p.Ala804=) c.1929C>A (p.Ala643=) c.1824C>A (p.Ala608=) | COSMIC |
| 3 | g.122284366C= | CA1397872273 | CASR | c.2181C= (p.Ala727=) c.2442C= (p.Ala814=) c.2412C= (p.Ala804=) c.1929C= (p.Ala643=) c.1824C= (p.Ala608=) | |
| 3 | g.122284366C>G | CA435425211 | CASR | c.2181C>G (p.Ala727=) c.2442C>G (p.Ala814=) c.2412C>G (p.Ala804=) c.1929C>G (p.Ala643=) c.1824C>G (p.Ala608=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284366C>T | CA10586844 | CASR | c.2181C>T (p.Ala727=) c.2442C>T (p.Ala814=) c.2412C>T (p.Ala804=) c.1929C>T (p.Ala643=) c.1824C>T (p.Ala608=) | ClinVar dbSNP |
| 3 | g.122284367A>C | CA354159745 | CASR | c.2182A>C (p.Lys728Gln) c.2443A>C (p.Lys815Gln) c.2413A>C (p.Lys805Gln) c.1930A>C (p.Lys644Gln) c.1825A>C (p.Lys609Gln) | |
| 3 | g.122284367A>G | CA354159743 | CASR | c.2182A>G (p.Lys728Glu) c.2443A>G (p.Lys815Glu) c.2413A>G (p.Lys805Glu) c.1930A>G (p.Lys644Glu) c.1825A>G (p.Lys609Glu) | |
| 3 | g.122284367A>T | CA354159744 | CASR | c.2182A>T (p.Lys728Ter) c.2443A>T (p.Lys815Ter) c.2413A>T (p.Lys805Ter) c.1930A>T (p.Lys644Ter) c.1825A>T (p.Lys609Ter) | |
| 3 | g.122284368A>C | CA354159746 | CASR | c.2183A>C (p.Lys728Thr) c.2444A>C (p.Lys815Thr) c.2414A>C (p.Lys805Thr) c.1931A>C (p.Lys644Thr) c.1826A>C (p.Lys609Thr) | |
| 3 | g.122284368A>G | CA354159747 | CASR | c.2183A>G (p.Lys728Arg) c.2444A>G (p.Lys815Arg) c.2414A>G (p.Lys805Arg) c.1931A>G (p.Lys644Arg) c.1826A>G (p.Lys609Arg) | ClinVar |
| 3 | g.122284368A>T | CA354159748 | CASR | c.2183A>T (p.Lys728Met) c.2444A>T (p.Lys815Met) c.2414A>T (p.Lys805Met) c.1931A>T (p.Lys644Met) c.1826A>T (p.Lys609Met) | |
| 3 | g.122284369del | CA2499216414 | CASR | c.2184del (p.Lys728AsnfsTer?) c.2445del (p.Lys815AsnfsTer?) c.2415del (p.Lys805AsnfsTer?) c.1932del (p.Lys644AsnfsTer?) c.1827del (p.Lys609AsnfsTer?) | ClinVar dbSNP |
| 3 | g.122284369G>A | CA435425216 | CASR | c.2184G>A (p.Lys728=) c.2445G>A (p.Lys815=) c.2415G>A (p.Lys805=) c.1932G>A (p.Lys644=) c.1827G>A (p.Lys609=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284369G>C | CA354159749 | CASR | c.2184G>C (p.Lys728Asn) c.2445G>C (p.Lys815Asn) c.2415G>C (p.Lys805Asn) c.1932G>C (p.Lys644Asn) c.1827G>C (p.Lys609Asn) | |
| 3 | g.122284369G= | CA1397872276 | CASR | c.2184G= (p.Lys728=) c.2445G= (p.Lys815=) c.2415G= (p.Lys805=) c.1932G= (p.Lys644=) c.1827G= (p.Lys609=) | |
| 3 | g.122284369G>T | CA354159750 | CASR | c.2184G>T (p.Lys728Asn) c.2445G>T (p.Lys815Asn) c.2415G>T (p.Lys805Asn) c.1932G>T (p.Lys644Asn) c.1827G>T (p.Lys609Asn) | |
| 3 | g.122284370T>A | CA354159751 | CASR | c.2185T>A (p.Phe729Ile) c.2446T>A (p.Phe816Ile) c.2416T>A (p.Phe806Ile) c.1933T>A (p.Phe645Ile) c.1828T>A (p.Phe610Ile) | |
| 3 | g.122284370T>C | CA354159752 | CASR | c.2185T>C (p.Phe729Leu) c.2446T>C (p.Phe816Leu) c.2416T>C (p.Phe806Leu) c.1933T>C (p.Phe645Leu) c.1828T>C (p.Phe610Leu) | |
| 3 | g.122284370T>G | CA354159753 | CASR | c.2185T>G (p.Phe729Val) c.2446T>G (p.Phe816Val) c.2416T>G (p.Phe806Val) c.1933T>G (p.Phe645Val) c.1828T>G (p.Phe610Val) | |
| 3 | g.122284371T>A | CA82748962 | CASR | c.2186T>A (p.Phe729Tyr) c.2447T>A (p.Phe816Tyr) c.2417T>A (p.Phe806Tyr) c.1934T>A (p.Phe645Tyr) c.1829T>A (p.Phe610Tyr) | ClinVar dbSNP |
| 3 | g.122284371T>C | CA119483 | CASR | c.2186T>C (p.Phe729Ser) c.2447T>C (p.Phe816Ser) c.2417T>C (p.Phe806Ser) c.1934T>C (p.Phe645Ser) c.1829T>C (p.Phe610Ser) | ClinVar dbSNP |
| 3 | g.122284371T>G | CA354159754 | CASR | c.2186T>G (p.Phe729Cys) c.2447T>G (p.Phe816Cys) c.2417T>G (p.Phe806Cys) c.1934T>G (p.Phe645Cys) c.1829T>G (p.Phe610Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284371T= | CA1397872280 | CASR | c.2186T= (p.Phe729=) c.2447T= (p.Phe816=) c.2417T= (p.Phe806=) c.1934T= (p.Phe645=) c.1829T= (p.Phe610=) | |
| 3 | g.122284372C>A | CA354159756 | CASR | c.2187C>A (p.Phe729Leu) c.2448C>A (p.Phe816Leu) c.2418C>A (p.Phe806Leu) c.1935C>A (p.Phe645Leu) c.1830C>A (p.Phe610Leu) | |
| 3 | g.122284372C>G | CA354159755 | CASR | c.2187C>G (p.Phe729Leu) c.2448C>G (p.Phe816Leu) c.2418C>G (p.Phe806Leu) c.1935C>G (p.Phe645Leu) c.1830C>G (p.Phe610Leu) | |
| 3 | g.122284372C>T | CA435425220 | CASR | c.2187C>T (p.Phe729=) c.2448C>T (p.Phe816=) c.2418C>T (p.Phe806=) c.1935C>T (p.Phe645=) c.1830C>T (p.Phe610=) | ClinVar dbSNP |
| 3 | g.122284373A>C | CA354159757 | CASR | c.2188A>C (p.Ile730Leu) c.2449A>C (p.Ile817Leu) c.2419A>C (p.Ile807Leu) c.1936A>C (p.Ile646Leu) c.1831A>C (p.Ile611Leu) | |
| 3 | g.122284373A>G | CA354159758 | CASR | c.2188A>G (p.Ile730Val) c.2449A>G (p.Ile817Val) c.2419A>G (p.Ile807Val) c.1936A>G (p.Ile646Val) c.1831A>G (p.Ile611Val) | |
| 3 | g.122284373A>T | CA354159759 | CASR | c.2188A>T (p.Ile730Phe) c.2449A>T (p.Ile817Phe) c.2419A>T (p.Ile807Phe) c.1936A>T (p.Ile646Phe) c.1831A>T (p.Ile611Phe) | |
| 3 | g.122284374T>A | CA354159760 | CASR | c.2189T>A (p.Ile730Asn) c.2450T>A (p.Ile817Asn) c.2420T>A (p.Ile807Asn) c.1937T>A (p.Ile646Asn) c.1832T>A (p.Ile611Asn) | |
| 3 | g.122284374T>C | CA354159761 | CASR | c.2189T>C (p.Ile730Thr) c.2450T>C (p.Ile817Thr) c.2420T>C (p.Ile807Thr) c.1937T>C (p.Ile646Thr) c.1832T>C (p.Ile611Thr) | COSMIC |
| 3 | g.122284374T>G | CA354159762 | CASR | c.2189T>G (p.Ile730Ser) c.2450T>G (p.Ile817Ser) c.2420T>G (p.Ile807Ser) c.1937T>G (p.Ile646Ser) c.1832T>G (p.Ile611Ser) | |
| 3 | g.122284375C>A | CA435425225 | CASR | c.2190C>A (p.Ile730=) c.2451C>A (p.Ile817=) c.2421C>A (p.Ile807=) c.1938C>A (p.Ile646=) c.1833C>A (p.Ile611=) | dbSNP |
| 3 | g.122284375C= | CA1397872286 | CASR | c.2190C= (p.Ile730=) c.2451C= (p.Ile817=) c.2421C= (p.Ile807=) c.1938C= (p.Ile646=) c.1833C= (p.Ile611=) | |
| 3 | g.122284375C>G | CA354159763 | CASR | c.2190C>G (p.Ile730Met) c.2451C>G (p.Ile817Met) c.2421C>G (p.Ile807Met) c.1938C>G (p.Ile646Met) c.1833C>G (p.Ile611Met) | |
| 3 | g.122284375C>T | CA435425228 | CASR | c.2190C>T (p.Ile730=) c.2451C>T (p.Ile817=) c.2421C>T (p.Ile807=) c.1938C>T (p.Ile646=) c.1833C>T (p.Ile611=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284376A= | CA1397872291 | CASR | c.2191A= (p.Thr731=) c.2452A= (p.Thr818=) c.2422A= (p.Thr808=) c.1939A= (p.Thr647=) c.1834A= (p.Thr612=) | |
| 3 | g.122284376A>C | CA354159764 | CASR | c.2191A>C (p.Thr731Pro) c.2452A>C (p.Thr818Pro) c.2422A>C (p.Thr808Pro) c.1939A>C (p.Thr647Pro) c.1834A>C (p.Thr612Pro) | dbSNP |
| 3 | g.122284376A>G | CA354159765 | CASR | c.2191A>G (p.Thr731Ala) c.2452A>G (p.Thr818Ala) c.2422A>G (p.Thr808Ala) c.1939A>G (p.Thr647Ala) c.1834A>G (p.Thr612Ala) | COSMIC |
| 3 | g.122284376A>T | CA354159766 | CASR | c.2191A>T (p.Thr731Ser) c.2452A>T (p.Thr818Ser) c.2422A>T (p.Thr808Ser) c.1939A>T (p.Thr647Ser) c.1834A>T (p.Thr612Ser) | |
| 3 | g.122284377C>A | CA354159767 | CASR | c.2192C>A (p.Thr731Asn) c.2453C>A (p.Thr818Asn) c.2423C>A (p.Thr808Asn) c.1940C>A (p.Thr647Asn) c.1835C>A (p.Thr612Asn) | dbSNP |
| 3 | g.122284377C= | CA1397872293 | CASR | c.2192C= (p.Thr731=) c.2453C= (p.Thr818=) c.2423C= (p.Thr808=) c.1940C= (p.Thr647=) c.1835C= (p.Thr612=) | |
| 3 | g.122284377C>G | CA354159768 | CASR | c.2192C>G (p.Thr731Ser) c.2453C>G (p.Thr818Ser) c.2423C>G (p.Thr808Ser) c.1940C>G (p.Thr647Ser) c.1835C>G (p.Thr612Ser) | ClinVar |
| 3 | g.122284377C>T | CA354159769 | CASR | c.2192C>T (p.Thr731Ile) c.2453C>T (p.Thr818Ile) c.2423C>T (p.Thr808Ile) c.1940C>T (p.Thr647Ile) c.1835C>T (p.Thr612Ile) | |
| 3 | g.122284378C>A | CA435425236 | CASR | c.2193C>A (p.Thr731=) c.2454C>A (p.Thr818=) c.2424C>A (p.Thr808=) c.1941C>A (p.Thr647=) c.1836C>A (p.Thr612=) | |
| 3 | g.122284378C= | CA1397872295 | CASR | c.2193C= (p.Thr731=) c.2454C= (p.Thr818=) c.2424C= (p.Thr808=) c.1941C= (p.Thr647=) c.1836C= (p.Thr612=) | |
| 3 | g.122284378C>G | CA435425237 | CASR | c.2193C>G (p.Thr731=) c.2454C>G (p.Thr818=) c.2424C>G (p.Thr808=) c.1941C>G (p.Thr647=) c.1836C>G (p.Thr612=) | |
| 3 | g.122284378C>T | CA435425238 | CASR | c.2193C>T (p.Thr731=) c.2454C>T (p.Thr818=) c.2424C>T (p.Thr808=) c.1941C>T (p.Thr647=) c.1836C>T (p.Thr612=) | dbSNP |
| 3 | g.122284379T>A | CA354159770 | CASR | c.2194T>A (p.Phe732Ile) c.2455T>A (p.Phe819Ile) c.2425T>A (p.Phe809Ile) c.1942T>A (p.Phe648Ile) c.1837T>A (p.Phe613Ile) | ClinVar dbSNP |
| 3 | g.122284379T>C | CA354159772 | CASR | c.2194T>C (p.Phe732Leu) c.2455T>C (p.Phe819Leu) c.2425T>C (p.Phe809Leu) c.1942T>C (p.Phe648Leu) c.1837T>C (p.Phe613Leu) | |
| 3 | g.122284379T>G | CA354159771 | CASR | c.2194T>G (p.Phe732Val) c.2455T>G (p.Phe819Val) c.2425T>G (p.Phe809Val) c.1942T>G (p.Phe648Val) c.1837T>G (p.Phe613Val) | |
| 3 | g.122284379T= | CA1397872298 | CASR | c.2194T= (p.Phe732=) c.2455T= (p.Phe819=) c.2425T= (p.Phe809=) c.1942T= (p.Phe648=) c.1837T= (p.Phe613=) | |
| 3 | g.122284380T>A | CA354159773 | CASR | c.2195T>A (p.Phe732Tyr) c.2456T>A (p.Phe819Tyr) c.2426T>A (p.Phe809Tyr) c.1943T>A (p.Phe648Tyr) c.1838T>A (p.Phe613Tyr) | |
| 3 | g.122284380T>C | CA354159774 | CASR | c.2195T>C (p.Phe732Ser) c.2456T>C (p.Phe819Ser) c.2426T>C (p.Phe809Ser) c.1943T>C (p.Phe648Ser) c.1838T>C (p.Phe613Ser) | |
| 3 | g.122284380T>G | CA354159775 | CASR | c.2195T>G (p.Phe732Cys) c.2456T>G (p.Phe819Cys) c.2426T>G (p.Phe809Cys) c.1943T>G (p.Phe648Cys) c.1838T>G (p.Phe613Cys) | |
| 3 | g.122284381C>A | CA354159776 | CASR | c.2196C>A (p.Phe732Leu) c.2457C>A (p.Phe819Leu) c.2427C>A (p.Phe809Leu) c.1944C>A (p.Phe648Leu) c.1839C>A (p.Phe613Leu) | |
| 3 | g.122284381C= | CA1397872301 | CASR | c.2196C= (p.Phe732=) c.2457C= (p.Phe819=) c.2427C= (p.Phe809=) c.1944C= (p.Phe648=) c.1839C= (p.Phe613=) | |
| 3 | g.122284381C>G | CA354159777 | CASR | c.2196C>G (p.Phe732Leu) c.2457C>G (p.Phe819Leu) c.2427C>G (p.Phe809Leu) c.1944C>G (p.Phe648Leu) c.1839C>G (p.Phe613Leu) | |
| 3 | g.122284381C>T | CA435425242 | CASR | c.2196C>T (p.Phe732=) c.2457C>T (p.Phe819=) c.2427C>T (p.Phe809=) c.1944C>T (p.Phe648=) c.1839C>T (p.Phe613=) | dbSNP gnomAD v2 |
| 3 | g.122284382A>C | CA354159778 | CASR | c.2197A>C (p.Ser733Arg) c.2458A>C (p.Ser820Arg) c.2428A>C (p.Ser810Arg) c.1945A>C (p.Ser649Arg) c.1840A>C (p.Ser614Arg) | |
| 3 | g.122284382A>G | CA354159779 | CASR | c.2197A>G (p.Ser733Gly) c.2458A>G (p.Ser820Gly) c.2428A>G (p.Ser810Gly) c.1945A>G (p.Ser649Gly) c.1840A>G (p.Ser614Gly) | |
| 3 | g.122284382A>T | CA354159780 | CASR | c.2197A>T (p.Ser733Cys) c.2458A>T (p.Ser820Cys) c.2428A>T (p.Ser810Cys) c.1945A>T (p.Ser649Cys) c.1840A>T (p.Ser614Cys) | gnomAD v4 |
| 3 | g.122284383G>A | CA354159781 | CASR | c.2198G>A (p.Ser733Asn) c.2459G>A (p.Ser820Asn) c.2429G>A (p.Ser810Asn) c.1946G>A (p.Ser649Asn) c.1841G>A (p.Ser614Asn) | ClinVar dbSNP |
| 3 | g.122284383G>C | CA354159782 | CASR | c.2198G>C (p.Ser733Thr) c.2459G>C (p.Ser820Thr) c.2429G>C (p.Ser810Thr) c.1946G>C (p.Ser649Thr) c.1841G>C (p.Ser614Thr) | ClinVar |
| 3 | g.122284383G= | CA1397872306 | CASR | c.2198G= (p.Ser733=) c.2459G= (p.Ser820=) c.2429G= (p.Ser810=) c.1946G= (p.Ser649=) c.1841G= (p.Ser614=) | |
| 3 | g.122284383G>T | CA354159783 | CASR | c.2198G>T (p.Ser733Ile) c.2459G>T (p.Ser820Ile) c.2429G>T (p.Ser810Ile) c.1946G>T (p.Ser649Ile) c.1841G>T (p.Ser614Ile) | |
| 3 | g.122284384C>A | CA354159785 | CASR | c.2199C>A (p.Ser733Arg) c.2460C>A (p.Ser820Arg) c.2430C>A (p.Ser810Arg) c.1947C>A (p.Ser649Arg) c.1842C>A (p.Ser614Arg) | |
| 3 | g.122284384C>G | CA354159784 | CASR | c.2199C>G (p.Ser733Arg) c.2460C>G (p.Ser820Arg) c.2430C>G (p.Ser810Arg) c.1947C>G (p.Ser649Arg) c.1842C>G (p.Ser614Arg) | |
| 3 | g.122284384C>T | CA435425249 | CASR | c.2199C>T (p.Ser733=) c.2460C>T (p.Ser820=) c.2430C>T (p.Ser810=) c.1947C>T (p.Ser649=) c.1842C>T (p.Ser614=) | gnomAD v4 |
| 3 | g.122284385A= | CA1397872312 | CASR | c.2200A= (p.Met734=) c.2461A= (p.Met821=) c.2431A= (p.Met811=) c.1948A= (p.Met650=) c.1843A= (p.Met615=) | |
| 3 | g.122284385A>C | CA354159786 | CASR | c.2200A>C (p.Met734Leu) c.2461A>C (p.Met821Leu) c.2431A>C (p.Met811Leu) c.1948A>C (p.Met650Leu) c.1843A>C (p.Met615Leu) | |
| 3 | g.122284385A>G | CA16604354 | CASR | c.2200A>G (p.Met734Val) c.2461A>G (p.Met821Val) c.2431A>G (p.Met811Val) c.1948A>G (p.Met650Val) c.1843A>G (p.Met615Val) | ClinVar dbSNP |
| 3 | g.122284385A>T | CA354159787 | CASR | c.2200A>T (p.Met734Leu) c.2461A>T (p.Met821Leu) c.2431A>T (p.Met811Leu) c.1948A>T (p.Met650Leu) c.1843A>T (p.Met615Leu) | |
| 3 | g.122284386T>A | CA354159788 | CASR | c.2201T>A (p.Met734Lys) c.2462T>A (p.Met821Lys) c.2432T>A (p.Met811Lys) c.1949T>A (p.Met650Lys) c.1844T>A (p.Met615Lys) | |
| 3 | g.122284386T>C | CA354159789 | CASR | c.2201T>C (p.Met734Thr) c.2462T>C (p.Met821Thr) c.2432T>C (p.Met811Thr) c.1949T>C (p.Met650Thr) c.1844T>C (p.Met615Thr) | |
| 3 | g.122284386T>G | CA354159790 | CASR | c.2201T>G (p.Met734Arg) c.2462T>G (p.Met821Arg) c.2432T>G (p.Met811Arg) c.1949T>G (p.Met650Arg) c.1844T>G (p.Met615Arg) | |
| 3 | g.122284387G>A | CA354159791 | CASR | c.2202G>A (p.Met734Ile) c.2463G>A (p.Met821Ile) c.2433G>A (p.Met811Ile) c.1950G>A (p.Met650Ile) c.1845G>A (p.Met615Ile) | |
| 3 | g.122284387G>C | CA354159792 | CASR | c.2202G>C (p.Met734Ile) c.2463G>C (p.Met821Ile) c.2433G>C (p.Met811Ile) c.1950G>C (p.Met650Ile) c.1845G>C (p.Met615Ile) | |
| 3 | g.122284387G>T | CA354159793 | CASR | c.2202G>T (p.Met734Ile) c.2463G>T (p.Met821Ile) c.2433G>T (p.Met811Ile) c.1950G>T (p.Met650Ile) c.1845G>T (p.Met615Ile) | |
| 3 | g.122284388C>A | CA354159794 | CASR | c.2203C>A (p.Leu735Ile) c.2464C>A (p.Leu822Ile) c.2434C>A (p.Leu812Ile) c.1951C>A (p.Leu651Ile) c.1846C>A (p.Leu616Ile) | |
| 3 | g.122284388C= | CA1397872316 | CASR | c.2203C= (p.Leu735=) c.2464C= (p.Leu822=) c.2434C= (p.Leu812=) c.1951C= (p.Leu651=) c.1846C= (p.Leu616=) | |
| 3 | g.122284388C>G | CA354159795 | CASR | c.2203C>G (p.Leu735Val) c.2464C>G (p.Leu822Val) c.2434C>G (p.Leu812Val) c.1951C>G (p.Leu651Val) c.1846C>G (p.Leu616Val) | |
| 3 | g.122284388C>T | CA354159796 | CASR | c.2203C>T (p.Leu735Phe) c.2464C>T (p.Leu822Phe) c.2434C>T (p.Leu812Phe) c.1951C>T (p.Leu651Phe) c.1846C>T (p.Leu616Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284389T>A | CA354159798 | CASR | c.2204T>A (p.Leu735His) c.2465T>A (p.Leu822His) c.2435T>A (p.Leu812His) c.1952T>A (p.Leu651His) c.1847T>A (p.Leu616His) | gnomAD v4 |
| 3 | g.122284389T>C | CA213586 | CASR | c.2204T>C (p.Leu735Pro) c.2465T>C (p.Leu822Pro) c.2435T>C (p.Leu812Pro) c.1952T>C (p.Leu651Pro) c.1847T>C (p.Leu616Pro) | ClinVar dbSNP |
| 3 | g.122284389T>G | CA354159797 | CASR | c.2204T>G (p.Leu735Arg) c.2465T>G (p.Leu822Arg) c.2435T>G (p.Leu812Arg) c.1952T>G (p.Leu651Arg) c.1847T>G (p.Leu616Arg) | |
| 3 | g.122284389T= | CA1397872323 | CASR | c.2204T= (p.Leu735=) c.2465T= (p.Leu822=) c.2435T= (p.Leu812=) c.1952T= (p.Leu651=) c.1847T= (p.Leu616=) | |
| 3 | g.122284390C>A | CA435425258 | CASR | c.2205C>A (p.Leu735=) c.2466C>A (p.Leu822=) c.2436C>A (p.Leu812=) c.1953C>A (p.Leu651=) c.1848C>A (p.Leu616=) | |
| 3 | g.122284390C>G | CA435425259 | CASR | c.2205C>G (p.Leu735=) c.2466C>G (p.Leu822=) c.2436C>G (p.Leu812=) c.1953C>G (p.Leu651=) c.1848C>G (p.Leu616=) | ClinVar |
| 3 | g.122284390C>T | CA435425261 | CASR | c.2205C>T (p.Leu735=) c.2466C>T (p.Leu822=) c.2436C>T (p.Leu812=) c.1953C>T (p.Leu651=) c.1848C>T (p.Leu616=) | ClinVar |
| 3 | g.122284391A= | CA1397872330 | CASR | c.2206A= (p.Ile736=) c.2467A= (p.Ile823=) c.2437A= (p.Ile813=) c.1954A= (p.Ile652=) c.1849A= (p.Ile617=) | |
| 3 | g.122284391A>C | CA354159800 | CASR | c.2206A>C (p.Ile736Leu) c.2467A>C (p.Ile823Leu) c.2437A>C (p.Ile813Leu) c.1954A>C (p.Ile652Leu) c.1849A>C (p.Ile617Leu) | |
| 3 | g.122284391A>G | CA2569824 | CASR | c.2206A>G (p.Ile736Val) c.2467A>G (p.Ile823Val) c.2437A>G (p.Ile813Val) c.1954A>G (p.Ile652Val) c.1849A>G (p.Ile617Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284391A>T | CA354159799 | CASR | c.2206A>T (p.Ile736Phe) c.2467A>T (p.Ile823Phe) c.2437A>T (p.Ile813Phe) c.1954A>T (p.Ile652Phe) c.1849A>T (p.Ile617Phe) | |
| 3 | g.122284392T>A | CA354159801 | CASR | c.2207T>A (p.Ile736Asn) c.2468T>A (p.Ile823Asn) c.2438T>A (p.Ile813Asn) c.1955T>A (p.Ile652Asn) c.1850T>A (p.Ile617Asn) | |
| 3 | g.122284392T>C | CA354159802 | CASR | c.2207T>C (p.Ile736Thr) c.2468T>C (p.Ile823Thr) c.2438T>C (p.Ile813Thr) c.1955T>C (p.Ile652Thr) c.1850T>C (p.Ile617Thr) | |
| 3 | g.122284392T>G | CA354159803 | CASR | c.2207T>G (p.Ile736Ser) c.2468T>G (p.Ile823Ser) c.2438T>G (p.Ile813Ser) c.1955T>G (p.Ile652Ser) c.1850T>G (p.Ile617Ser) | |
| 3 | g.122284397_122284399del | CA2580616517 | CASR | c.2212_2214del (p.Phe738del) c.2473_2475del (p.Phe825del) c.2443_2445del (p.Phe815del) c.1960_1962del (p.Phe654del) c.1855_1857del (p.Phe619del) | ClinVar |
| 3 | g.122284393C>A | CA435425268 | CASR | c.2208C>A (p.Ile736=) c.2469C>A (p.Ile823=) c.2439C>A (p.Ile813=) c.1956C>A (p.Ile652=) c.1851C>A (p.Ile617=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284393C= | CA1397872336 | CASR | c.2208C= (p.Ile736=) c.2469C= (p.Ile823=) c.2439C= (p.Ile813=) c.1956C= (p.Ile652=) c.1851C= (p.Ile617=) | |
| 3 | g.122284393C>G | CA354159804 | CASR | c.2208C>G (p.Ile736Met) c.2469C>G (p.Ile823Met) c.2439C>G (p.Ile813Met) c.1956C>G (p.Ile652Met) c.1851C>G (p.Ile617Met) | |
| 3 | g.122284393C>T | CA435425269 | CASR | c.2208C>T (p.Ile736=) c.2469C>T (p.Ile823=) c.2439C>T (p.Ile813=) c.1956C>T (p.Ile652=) c.1851C>T (p.Ile617=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284394T>A | CA354159805 | CASR | c.2209T>A (p.Phe737Ile) c.2470T>A (p.Phe824Ile) c.2440T>A (p.Phe814Ile) c.1957T>A (p.Phe653Ile) c.1852T>A (p.Phe618Ile) | |
| 3 | g.122284394T>C | CA354159806 | CASR | c.2209T>C (p.Phe737Leu) c.2470T>C (p.Phe824Leu) c.2440T>C (p.Phe814Leu) c.1957T>C (p.Phe653Leu) c.1852T>C (p.Phe618Leu) | |
| 3 | g.122284394T>G | CA354159807 | CASR | c.2209T>G (p.Phe737Val) c.2470T>G (p.Phe824Val) c.2440T>G (p.Phe814Val) c.1957T>G (p.Phe653Val) c.1852T>G (p.Phe618Val) | |
| 3 | g.122284395T>A | CA354159808 | CASR | c.2210T>A (p.Phe737Tyr) c.2471T>A (p.Phe824Tyr) c.2441T>A (p.Phe814Tyr) c.1958T>A (p.Phe653Tyr) c.1853T>A (p.Phe618Tyr) | |
| 3 | g.122284395T>C | CA354159809 | CASR | c.2210T>C (p.Phe737Ser) c.2471T>C (p.Phe824Ser) c.2441T>C (p.Phe814Ser) c.1958T>C (p.Phe653Ser) c.1853T>C (p.Phe618Ser) | |
| 3 | g.122284395T>G | CA354159810 | CASR | c.2210T>G (p.Phe737Cys) c.2471T>G (p.Phe824Cys) c.2441T>G (p.Phe814Cys) c.1958T>G (p.Phe653Cys) c.1853T>G (p.Phe618Cys) | |
| 3 | g.122284396C>A | CA354159812 | CASR | c.2211C>A (p.Phe737Leu) c.2472C>A (p.Phe824Leu) c.2442C>A (p.Phe814Leu) c.1959C>A (p.Phe653Leu) c.1854C>A (p.Phe618Leu) | |
| 3 | g.122284396C= | CA1397872341 | CASR | c.2211C= (p.Phe737=) c.2472C= (p.Phe824=) c.2442C= (p.Phe814=) c.1959C= (p.Phe653=) c.1854C= (p.Phe618=) | |
| 3 | g.122284396C>G | CA354159811 | CASR | c.2211C>G (p.Phe737Leu) c.2472C>G (p.Phe824Leu) c.2442C>G (p.Phe814Leu) c.1959C>G (p.Phe653Leu) c.1854C>G (p.Phe618Leu) | |
| 3 | g.122284396C>T | CA2569825 | CASR | c.2211C>T (p.Phe737=) c.2472C>T (p.Phe824=) c.2442C>T (p.Phe814=) c.1959C>T (p.Phe653=) c.1854C>T (p.Phe618=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284397T>A | CA354159813 | CASR | c.2212T>A (p.Phe738Ile) c.2473T>A (p.Phe825Ile) c.2443T>A (p.Phe815Ile) c.1960T>A (p.Phe654Ile) c.1855T>A (p.Phe619Ile) | |
| 3 | g.122284397T>C | CA354159814 | CASR | c.2212T>C (p.Phe738Leu) c.2473T>C (p.Phe825Leu) c.2443T>C (p.Phe815Leu) c.1960T>C (p.Phe654Leu) c.1855T>C (p.Phe619Leu) | |
| 3 | g.122284397T>G | CA354159815 | CASR | c.2212T>G (p.Phe738Val) c.2473T>G (p.Phe825Val) c.2443T>G (p.Phe815Val) c.1960T>G (p.Phe654Val) c.1855T>G (p.Phe619Val) | |
| 3 | g.122284398T>A | CA354159816 | CASR | c.2213T>A (p.Phe738Tyr) c.2474T>A (p.Phe825Tyr) c.2444T>A (p.Phe815Tyr) c.1961T>A (p.Phe654Tyr) c.1856T>A (p.Phe619Tyr) | |
| 3 | g.122284398T>C | CA354159817 | CASR | c.2213T>C (p.Phe738Ser) c.2474T>C (p.Phe825Ser) c.2444T>C (p.Phe815Ser) c.1961T>C (p.Phe654Ser) c.1856T>C (p.Phe619Ser) | ClinVar |
| 3 | g.122284398T>G | CA354159818 | CASR | c.2213T>G (p.Phe738Cys) c.2474T>G (p.Phe825Cys) c.2444T>G (p.Phe815Cys) c.1961T>G (p.Phe654Cys) c.1856T>G (p.Phe619Cys) | |
| 3 | g.122284399C>A | CA354159819 | CASR | c.2214C>A (p.Phe738Leu) c.2475C>A (p.Phe825Leu) c.2445C>A (p.Phe815Leu) c.1962C>A (p.Phe654Leu) c.1857C>A (p.Phe619Leu) | |
| 3 | g.122284399C>G | CA354159820 | CASR | c.2214C>G (p.Phe738Leu) c.2475C>G (p.Phe825Leu) c.2445C>G (p.Phe815Leu) c.1962C>G (p.Phe654Leu) c.1857C>G (p.Phe619Leu) | |
| 3 | g.122284399C>T | CA435425279 | CASR | c.2214C>T (p.Phe738=) c.2475C>T (p.Phe825=) c.2445C>T (p.Phe815=) c.1962C>T (p.Phe654=) c.1857C>T (p.Phe619=) | |
| 3 | g.122284400A>C | CA354159821 | CASR | c.2215A>C (p.Ile739Leu) c.2476A>C (p.Ile826Leu) c.2446A>C (p.Ile816Leu) c.1963A>C (p.Ile655Leu) c.1858A>C (p.Ile620Leu) | |
| 3 | g.122284400A>G | CA354159822 | CASR | c.2215A>G (p.Ile739Val) c.2476A>G (p.Ile826Val) c.2446A>G (p.Ile816Val) c.1963A>G (p.Ile655Val) c.1858A>G (p.Ile620Val) | ClinVar dbSNP |
| 3 | g.122284400A>T | CA354159823 | CASR | c.2215A>T (p.Ile739Phe) c.2476A>T (p.Ile826Phe) c.2446A>T (p.Ile816Phe) c.1963A>T (p.Ile655Phe) c.1858A>T (p.Ile620Phe) | |
| 3 | g.122284401T>A | CA354159825 | CASR | c.2216T>A (p.Ile739Asn) c.2477T>A (p.Ile826Asn) c.2447T>A (p.Ile816Asn) c.1964T>A (p.Ile655Asn) c.1859T>A (p.Ile620Asn) | |
| 3 | g.122284401T>C | CA354159826 | CASR | c.2216T>C (p.Ile739Thr) c.2477T>C (p.Ile826Thr) c.2447T>C (p.Ile816Thr) c.1964T>C (p.Ile655Thr) c.1859T>C (p.Ile620Thr) | |
| 3 | g.122284401T>G | CA354159824 | CASR | c.2216T>G (p.Ile739Ser) c.2477T>G (p.Ile826Ser) c.2447T>G (p.Ile816Ser) c.1964T>G (p.Ile655Ser) c.1859T>G (p.Ile620Ser) | |
| 3 | g.122284402C>A | CA2569826 | CASR | c.2217C>A (p.Ile739=) c.2478C>A (p.Ile826=) c.2448C>A (p.Ile816=) c.1965C>A (p.Ile655=) c.1860C>A (p.Ile620=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284402C= | CA1397872345 | CASR | c.2217C= (p.Ile739=) c.2478C= (p.Ile826=) c.2448C= (p.Ile816=) c.1965C= (p.Ile655=) c.1860C= (p.Ile620=) | |
| 3 | g.122284402C>G | CA354159827 | CASR | c.2217C>G (p.Ile739Met) c.2478C>G (p.Ile826Met) c.2448C>G (p.Ile816Met) c.1965C>G (p.Ile655Met) c.1860C>G (p.Ile620Met) | ClinVar dbSNP |
| 3 | g.122284402C>T | CA435425284 | CASR | c.2217C>T (p.Ile739=) c.2478C>T (p.Ile826=) c.2448C>T (p.Ile816=) c.1965C>T (p.Ile655=) c.1860C>T (p.Ile620=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284403G>A | CA16043395 | CASR | c.2218G>A (p.Val740Ile) c.2479G>A (p.Val827Ile) c.2449G>A (p.Val817Ile) c.1966G>A (p.Val656Ile) c.1861G>A (p.Val621Ile) | ClinVar dbSNP COSMIC |
| 3 | g.122284403G>C | CA354159828 | CASR | c.2218G>C (p.Val740Leu) c.2479G>C (p.Val827Leu) c.2449G>C (p.Val817Leu) c.1966G>C (p.Val656Leu) c.1861G>C (p.Val621Leu) | ClinVar dbSNP |
| 3 | g.122284403G= | CA1397872350 | CASR | c.2218G= (p.Val740=) c.2479G= (p.Val827=) c.2449G= (p.Val817=) c.1966G= (p.Val656=) c.1861G= (p.Val621=) | |
| 3 | g.122284403G>T | CA354159829 | CASR | c.2218G>T (p.Val740Phe) c.2479G>T (p.Val827Phe) c.2449G>T (p.Val817Phe) c.1966G>T (p.Val656Phe) c.1861G>T (p.Val621Phe) | |
| 3 | g.122284404T>A | CA354159832 | CASR | c.2219T>A (p.Val740Asp) c.2480T>A (p.Val827Asp) c.2450T>A (p.Val817Asp) c.1967T>A (p.Val656Asp) c.1862T>A (p.Val621Asp) | |
| 3 | g.122284404T>C | CA354159831 | CASR | c.2219T>C (p.Val740Ala) c.2480T>C (p.Val827Ala) c.2450T>C (p.Val817Ala) c.1967T>C (p.Val656Ala) c.1862T>C (p.Val621Ala) | dbSNP |
| 3 | g.122284404T>G | CA354159830 | CASR | c.2219T>G (p.Val740Gly) c.2480T>G (p.Val827Gly) c.2450T>G (p.Val817Gly) c.1967T>G (p.Val656Gly) c.1862T>G (p.Val621Gly) | |
| 3 | g.122284404T= | CA1397872354 | CASR | c.2219T= (p.Val740=) c.2480T= (p.Val827=) c.2450T= (p.Val817=) c.1967T= (p.Val656=) c.1862T= (p.Val621=) | |
| 3 | g.122284405C>A | CA435425289 | CASR | c.2220C>A (p.Val740=) c.2481C>A (p.Val827=) c.2451C>A (p.Val817=) c.1968C>A (p.Val656=) c.1863C>A (p.Val621=) | ClinVar |
| 3 | g.122284405C= | CA1397872357 | CASR | c.2220C= (p.Val740=) c.2481C= (p.Val827=) c.2451C= (p.Val817=) c.1968C= (p.Val656=) c.1863C= (p.Val621=) | |
| 3 | g.122284405C>G | CA435425290 | CASR | c.2220C>G (p.Val740=) c.2481C>G (p.Val827=) c.2451C>G (p.Val817=) c.1968C>G (p.Val656=) c.1863C>G (p.Val621=) | |
| 3 | g.122284405C>T | CA435425291 | CASR | c.2220C>T (p.Val740=) c.2481C>T (p.Val827=) c.2451C>T (p.Val817=) c.1968C>T (p.Val656=) c.1863C>T (p.Val621=) | ClinVar dbSNP gnomAD v2 |
| 3 | g.122284406T>A | CA354159833 | CASR | c.2221T>A (p.Trp741Arg) c.2482T>A (p.Trp828Arg) c.2452T>A (p.Trp818Arg) c.1969T>A (p.Trp657Arg) c.1864T>A (p.Trp622Arg) | |
| 3 | g.122284406T>C | CA354159834 | CASR | c.2221T>C (p.Trp741Arg) c.2482T>C (p.Trp828Arg) c.2452T>C (p.Trp818Arg) c.1969T>C (p.Trp657Arg) c.1864T>C (p.Trp622Arg) | ClinVar |
| 3 | g.122284406T>G | CA354159835 | CASR | c.2221T>G (p.Trp741Gly) c.2482T>G (p.Trp828Gly) c.2452T>G (p.Trp818Gly) c.1969T>G (p.Trp657Gly) c.1864T>G (p.Trp622Gly) | |
| 3 | g.122284407G>A | CA354159837 | CASR | c.2222G>A (p.Trp741Ter) c.2483G>A (p.Trp828Ter) c.2453G>A (p.Trp818Ter) c.1970G>A (p.Trp657Ter) c.1865G>A (p.Trp622Ter) | gnomAD v4 |
| 3 | g.122284407G>C | CA354159838 | CASR | c.2222G>C (p.Trp741Ser) c.2483G>C (p.Trp828Ser) c.2453G>C (p.Trp818Ser) c.1970G>C (p.Trp657Ser) c.1865G>C (p.Trp622Ser) | |
| 3 | g.122284407G>T | CA354159839 | CASR | c.2222G>T (p.Trp741Leu) c.2483G>T (p.Trp828Leu) c.2453G>T (p.Trp818Leu) c.1970G>T (p.Trp657Leu) c.1865G>T (p.Trp622Leu) | COSMIC |
| 3 | g.122284408G>A | CA354159840 | CASR | c.2223G>A (p.Trp741Ter) c.2484G>A (p.Trp828Ter) c.2454G>A (p.Trp818Ter) c.1971G>A (p.Trp657Ter) c.1866G>A (p.Trp622Ter) | ClinVar dbSNP |
| 3 | g.122284408G>C | CA354159842 | CASR | c.2223G>C (p.Trp741Cys) c.2484G>C (p.Trp828Cys) c.2454G>C (p.Trp818Cys) c.1971G>C (p.Trp657Cys) c.1866G>C (p.Trp622Cys) | |
| 3 | g.122284408G= | CA1397872361 | CASR | c.2223G= (p.Trp741=) c.2484G= (p.Trp828=) c.2454G= (p.Trp818=) c.1971G= (p.Trp657=) c.1866G= (p.Trp622=) | |
| 3 | g.122284408G>T | CA354159841 | CASR | c.2223G>T (p.Trp741Cys) c.2484G>T (p.Trp828Cys) c.2454G>T (p.Trp818Cys) c.1971G>T (p.Trp657Cys) c.1866G>T (p.Trp622Cys) | ClinVar gnomAD v4 |
| 3 | g.122284409A>C | CA354159843 | CASR | c.2224A>C (p.Ile742Leu) c.2485A>C (p.Ile829Leu) c.2455A>C (p.Ile819Leu) c.1972A>C (p.Ile658Leu) c.1867A>C (p.Ile623Leu) | |
| 3 | g.122284409A>G | CA354159844 | CASR | c.2224A>G (p.Ile742Val) c.2485A>G (p.Ile829Val) c.2455A>G (p.Ile819Val) c.1972A>G (p.Ile658Val) c.1867A>G (p.Ile623Val) | gnomAD v4 |
| 3 | g.122284409A>T | CA354159845 | CASR | c.2224A>T (p.Ile742Phe) c.2485A>T (p.Ile829Phe) c.2455A>T (p.Ile819Phe) c.1972A>T (p.Ile658Phe) c.1867A>T (p.Ile623Phe) | |
| 3 | g.122284410T>A | CA354159846 | CASR | c.2225T>A (p.Ile742Asn) c.2486T>A (p.Ile829Asn) c.2456T>A (p.Ile819Asn) c.1973T>A (p.Ile658Asn) c.1868T>A (p.Ile623Asn) | |
| 3 | g.122284410T>C | CA354159847 | CASR | c.2225T>C (p.Ile742Thr) c.2486T>C (p.Ile829Thr) c.2456T>C (p.Ile819Thr) c.1973T>C (p.Ile658Thr) c.1868T>C (p.Ile623Thr) | |
| 3 | g.122284410T>G | CA354159848 | CASR | c.2225T>G (p.Ile742Ser) c.2486T>G (p.Ile829Ser) c.2456T>G (p.Ile819Ser) c.1973T>G (p.Ile658Ser) c.1868T>G (p.Ile623Ser) | |
| 3 | g.122284411C>A | CA435425297 | CASR | c.2226C>A (p.Ile742=) c.2487C>A (p.Ile829=) c.2457C>A (p.Ile819=) c.1974C>A (p.Ile658=) c.1869C>A (p.Ile623=) | gnomAD v4 |
| 3 | g.122284411C= | CA1397872364 | CASR | c.2226C= (p.Ile742=) c.2487C= (p.Ile829=) c.2457C= (p.Ile819=) c.1974C= (p.Ile658=) c.1869C= (p.Ile623=) | |
| 3 | g.122284411C>G | CA2569827 | CASR | c.2226C>G (p.Ile742Met) c.2487C>G (p.Ile829Met) c.2457C>G (p.Ile819Met) c.1974C>G (p.Ile658Met) c.1869C>G (p.Ile623Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284411C>T | CA435425299 | CASR | c.2226C>T (p.Ile742=) c.2487C>T (p.Ile829=) c.2457C>T (p.Ile819=) c.1974C>T (p.Ile658=) c.1869C>T (p.Ile623=) | |
| 3 | g.122284412T>A | CA354159849 | CASR | c.2227T>A (p.Ser743Thr) c.2488T>A (p.Ser830Thr) c.2458T>A (p.Ser820Thr) c.1975T>A (p.Ser659Thr) c.1870T>A (p.Ser624Thr) | |
| 3 | g.122284412T>C | CA354159850 | CASR | c.2227T>C (p.Ser743Pro) c.2488T>C (p.Ser830Pro) c.2458T>C (p.Ser820Pro) c.1975T>C (p.Ser659Pro) c.1870T>C (p.Ser624Pro) | |
| 3 | g.122284412T>G | CA354159851 | CASR | c.2227T>G (p.Ser743Ala) c.2488T>G (p.Ser830Ala) c.2458T>G (p.Ser820Ala) c.1975T>G (p.Ser659Ala) c.1870T>G (p.Ser624Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284412T= | CA1397872366 | CASR | c.2227T= (p.Ser743=) c.2488T= (p.Ser830=) c.2458T= (p.Ser820=) c.1975T= (p.Ser659=) c.1870T= (p.Ser624=) | |
| 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) | |
| 3 | g.122284427T>C | CA354160002 | CASR | c.2242T>C (p.Tyr748His) c.2503T>C (p.Tyr835His) c.2473T>C (p.Tyr825His) c.1990T>C (p.Tyr664His) c.1885T>C (p.Tyr629His) | |
| 3 | g.122284427T>G | CA354160004 | CASR | c.2242T>G (p.Tyr748Asp) c.2503T>G (p.Tyr835Asp) c.2473T>G (p.Tyr825Asp) c.1990T>G (p.Tyr664Asp) c.1885T>G (p.Tyr629Asp) | |
| 3 | g.122284428A= | CA1397872387 | CASR | c.2243A= (p.Tyr748=) c.2504A= (p.Tyr835=) c.2474A= (p.Tyr825=) c.1991A= (p.Tyr664=) c.1886A= (p.Tyr629=) | |
| 3 | g.122284428A>C | CA354160006 | CASR | c.2243A>C (p.Tyr748Ser) c.2504A>C (p.Tyr835Ser) c.2474A>C (p.Tyr825Ser) c.1991A>C (p.Tyr664Ser) c.1886A>C (p.Tyr629Ser) | |
| 3 | g.122284428A>G | CA2569829 | CASR | c.2243A>G (p.Tyr748Cys) c.2504A>G (p.Tyr835Cys) c.2474A>G (p.Tyr825Cys) c.1991A>G (p.Tyr664Cys) c.1886A>G (p.Tyr629Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284428A>T | CA354160010 | CASR | c.2243A>T (p.Tyr748Phe) c.2504A>T (p.Tyr835Phe) c.2474A>T (p.Tyr825Phe) c.1991A>T (p.Tyr664Phe) c.1886A>T (p.Tyr629Phe) | |
| 3 | g.122284429T>A | CA354160011 | CASR | c.2244T>A (p.Tyr748Ter) c.2505T>A (p.Tyr835Ter) c.2475T>A (p.Tyr825Ter) c.1992T>A (p.Tyr664Ter) c.1887T>A (p.Tyr629Ter) | |
| 3 | g.122284429T>C | CA435425194 | CASR | c.2244T>C (p.Tyr748=) c.2505T>C (p.Tyr835=) c.2475T>C (p.Tyr825=) c.1992T>C (p.Tyr664=) c.1887T>C (p.Tyr629=) | ClinVar |
| 3 | g.122284429T>G | CA354160012 | CASR | c.2244T>G (p.Tyr748Ter) c.2505T>G (p.Tyr835Ter) c.2475T>G (p.Tyr825Ter) c.1992T>G (p.Tyr664Ter) c.1887T>G (p.Tyr629Ter) | |
| 3 | g.122284430G>A | CA354160013 | CASR | c.2245G>A (p.Ala749Thr) c.2506G>A (p.Ala836Thr) c.2476G>A (p.Ala826Thr) c.1993G>A (p.Ala665Thr) c.1888G>A (p.Ala630Thr) | |
| 3 | g.122284430G>C | CA354160014 | CASR | c.2245G>C (p.Ala749Pro) c.2506G>C (p.Ala836Pro) c.2476G>C (p.Ala826Pro) c.1993G>C (p.Ala665Pro) c.1888G>C (p.Ala630Pro) | |
| 3 | g.122284430G>T | CA354160016 | CASR | c.2245G>T (p.Ala749Ser) c.2506G>T (p.Ala836Ser) c.2476G>T (p.Ala826Ser) c.1993G>T (p.Ala665Ser) c.1888G>T (p.Ala630Ser) | |
| 3 | g.122284431C>A | CA354160018 | CASR | c.2246C>A (p.Ala749Asp) c.2507C>A (p.Ala836Asp) c.2477C>A (p.Ala826Asp) c.1994C>A (p.Ala665Asp) c.1889C>A (p.Ala630Asp) | |
| 3 | g.122284431C= | CA1397872390 | CASR | c.2246C= (p.Ala749=) c.2507C= (p.Ala836=) c.2477C= (p.Ala826=) c.1994C= (p.Ala665=) c.1889C= (p.Ala630=) | |
| 3 | g.122284431C>G | CA354160020 | CASR | c.2246C>G (p.Ala749Gly) c.2507C>G (p.Ala836Gly) c.2477C>G (p.Ala826Gly) c.1994C>G (p.Ala665Gly) c.1889C>G (p.Ala630Gly) | ClinVar dbSNP |
| 3 | g.122284431C>T | CA354160022 | CASR | c.2246C>T (p.Ala749Val) c.2507C>T (p.Ala836Val) c.2477C>T (p.Ala826Val) c.1994C>T (p.Ala665Val) c.1889C>T (p.Ala630Val) | ClinVar dbSNP |