Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122284337delCA2580068645CASRc.2152del (p.Arg718GlyfsTer?)
c.2413del (p.Arg805GlyfsTer?)
c.2383del (p.Arg795GlyfsTer?)
c.1900del (p.Arg634GlyfsTer?)
c.1795del (p.Arg599GlyfsTer?)
ClinVar dbSNP
3g.122284337C>ACA435425159CASRc.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
3g.122284337C=CA1397872200CASRc.2152C= (p.Arg718=)
c.2413C= (p.Arg805=)
c.2383C= (p.Arg795=)
c.1900C= (p.Arg634=)
c.1795C= (p.Arg599=)
3g.122284337C>GCA354159678CASRc.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
3g.122284337C>TCA119467CASRc.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
3g.122284338G>ACA82748943CASRc.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
3g.122284338G>CCA354159679CASRc.2153G>C (p.Arg718Pro)
c.2414G>C (p.Arg805Pro)
c.2384G>C (p.Arg795Pro)
c.1901G>C (p.Arg634Pro)
c.1796G>C (p.Arg599Pro)
3g.122284338G=CA1397872205CASRc.2153G= (p.Arg718=)
c.2414G= (p.Arg805=)
c.2384G= (p.Arg795=)
c.1901G= (p.Arg634=)
c.1796G= (p.Arg599=)
3g.122284338G>TCA354159680CASRc.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
3g.122284339G>ACA435425160CASRc.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
3g.122284339G>CCA435425161CASRc.2154G>C (p.Arg718=)
c.2415G>C (p.Arg805=)
c.2385G>C (p.Arg795=)
c.1902G>C (p.Arg634=)
c.1797G>C (p.Arg599=)
3g.122284339G=CA1397872209CASRc.2154G= (p.Arg718=)
c.2415G= (p.Arg805=)
c.2385G= (p.Arg795=)
c.1902G= (p.Arg634=)
c.1797G= (p.Arg599=)
3g.122284339G>TCA435425163CASRc.2154G>T (p.Arg718=)
c.2415G>T (p.Arg805=)
c.2385G>T (p.Arg795=)
c.1902G>T (p.Arg634=)
c.1797G>T (p.Arg599=)
3g.122284340A>CCA354159682CASRc.2155A>C (p.Lys719Gln)
c.2416A>C (p.Lys806Gln)
c.2386A>C (p.Lys796Gln)
c.1903A>C (p.Lys635Gln)
c.1798A>C (p.Lys600Gln)
3g.122284340A>GCA354159683CASRc.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
3g.122284340A>TCA354159681CASRc.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
3g.122284341A>CCA354159686CASRc.2156A>C (p.Lys719Thr)
c.2417A>C (p.Lys806Thr)
c.2387A>C (p.Lys796Thr)
c.1904A>C (p.Lys635Thr)
c.1799A>C (p.Lys600Thr)
3g.122284341A>GCA354159684CASRc.2156A>G (p.Lys719Arg)
c.2417A>G (p.Lys806Arg)
c.2387A>G (p.Lys796Arg)
c.1904A>G (p.Lys635Arg)
c.1799A>G (p.Lys600Arg)
3g.122284341A>TCA354159685CASRc.2156A>T (p.Lys719Met)
c.2417A>T (p.Lys806Met)
c.2387A>T (p.Lys796Met)
c.1904A>T (p.Lys635Met)
c.1799A>T (p.Lys600Met)
3g.122284342G>ACA2569820CASRc.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
3g.122284342G>CCA354159687CASRc.2157G>C (p.Lys719Asn)
c.2418G>C (p.Lys806Asn)
c.2388G>C (p.Lys796Asn)
c.1905G>C (p.Lys635Asn)
c.1800G>C (p.Lys600Asn)
3g.122284342G=CA1397872216CASRc.2157G= (p.Lys719=)
c.2418G= (p.Lys806=)
c.2388G= (p.Lys796=)
c.1905G= (p.Lys635=)
c.1800G= (p.Lys600=)
3g.122284342G>TCA354159688CASRc.2157G>T (p.Lys719Asn)
c.2418G>T (p.Lys806Asn)
c.2388G>T (p.Lys796Asn)
c.1905G>T (p.Lys635Asn)
c.1800G>T (p.Lys600Asn)
3g.122284343C>ACA354159689CASRc.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
3g.122284343C=CA1397872218CASRc.2158C= (p.Leu720=)
c.2419C= (p.Leu807=)
c.2389C= (p.Leu797=)
c.1906C= (p.Leu636=)
c.1801C= (p.Leu601=)
3g.122284343C>GCA354159690CASRc.2158C>G (p.Leu720Val)
c.2419C>G (p.Leu807Val)
c.2389C>G (p.Leu797Val)
c.1906C>G (p.Leu636Val)
c.1801C>G (p.Leu601Val)
3g.122284343C>TCA82748950CASRc.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
3g.122284344T>ACA354159691CASRc.2159T>A (p.Leu720Gln)
c.2420T>A (p.Leu807Gln)
c.2390T>A (p.Leu797Gln)
c.1907T>A (p.Leu636Gln)
c.1802T>A (p.Leu601Gln)
3g.122284344T>CCA354159692CASRc.2159T>C (p.Leu720Pro)
c.2420T>C (p.Leu807Pro)
c.2390T>C (p.Leu797Pro)
c.1907T>C (p.Leu636Pro)
c.1802T>C (p.Leu601Pro)
3g.122284344T>GCA354159693CASRc.2159T>G (p.Leu720Arg)
c.2420T>G (p.Leu807Arg)
c.2390T>G (p.Leu797Arg)
c.1907T>G (p.Leu636Arg)
c.1802T>G (p.Leu601Arg)
3g.122284345G>ACA435425169CASRc.2160G>A (p.Leu720=)
c.2421G>A (p.Leu807=)
c.2391G>A (p.Leu797=)
c.1908G>A (p.Leu636=)
c.1803G>A (p.Leu601=)
3g.122284345G>CCA435425171CASRc.2160G>C (p.Leu720=)
c.2421G>C (p.Leu807=)
c.2391G>C (p.Leu797=)
c.1908G>C (p.Leu636=)
c.1803G>C (p.Leu601=)
3g.122284345G=CA1397872223CASRc.2160G= (p.Leu720=)
c.2421G= (p.Leu807=)
c.2391G= (p.Leu797=)
c.1908G= (p.Leu636=)
c.1803G= (p.Leu601=)
3g.122284345G>TCA435425170CASRc.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
3g.122284346C>ACA354159696CASRc.2161C>A (p.Pro721Thr)
c.2422C>A (p.Pro808Thr)
c.2392C>A (p.Pro798Thr)
c.1909C>A (p.Pro637Thr)
c.1804C>A (p.Pro602Thr)
3g.122284346C=CA1397872228CASRc.2161C= (p.Pro721=)
c.2422C= (p.Pro808=)
c.2392C= (p.Pro798=)
c.1909C= (p.Pro637=)
c.1804C= (p.Pro602=)
3g.122284346C>GCA354159695CASRc.2161C>G (p.Pro721Ala)
c.2422C>G (p.Pro808Ala)
c.2392C>G (p.Pro798Ala)
c.1909C>G (p.Pro637Ala)
c.1804C>G (p.Pro602Ala)
3g.122284346C>TCA354159694CASRc.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
3g.122284347C>ACA354159697CASRc.2162C>A (p.Pro721Gln)
c.2423C>A (p.Pro808Gln)
c.2393C>A (p.Pro798Gln)
c.1910C>A (p.Pro637Gln)
c.1805C>A (p.Pro602Gln)
3g.122284347C=CA1397872237CASRc.2162C= (p.Pro721=)
c.2423C= (p.Pro808=)
c.2393C= (p.Pro798=)
c.1910C= (p.Pro637=)
c.1805C= (p.Pro602=)
3g.122284347C>GCA354159698CASRc.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
3g.122284347C>TCA16611130CASRc.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
3g.122284348G>ACA435425176CASRc.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
3g.122284348G>CCA435425179CASRc.2163G>C (p.Pro721=)
c.2424G>C (p.Pro808=)
c.2394G>C (p.Pro798=)
c.1911G>C (p.Pro637=)
c.1806G>C (p.Pro602=)
3g.122284348G=CA1397872245CASRc.2163G= (p.Pro721=)
c.2424G= (p.Pro808=)
c.2394G= (p.Pro798=)
c.1911G= (p.Pro637=)
c.1806G= (p.Pro602=)
3g.122284348G>TCA435425181CASRc.2163G>T (p.Pro721=)
c.2424G>T (p.Pro808=)
c.2394G>T (p.Pro798=)
c.1911G>T (p.Pro637=)
c.1806G>T (p.Pro602=)
3g.122284349G>ACA354159699CASRc.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
3g.122284349G>CCA354159700CASRc.2164G>C (p.Glu722Gln)
c.2425G>C (p.Glu809Gln)
c.2395G>C (p.Glu799Gln)
c.1912G>C (p.Glu638Gln)
c.1807G>C (p.Glu603Gln)
3g.122284349G>TCA354159701CASRc.2164G>T (p.Glu722Ter)
c.2425G>T (p.Glu809Ter)
c.2395G>T (p.Glu799Ter)
c.1912G>T (p.Glu638Ter)
c.1807G>T (p.Glu603Ter)
3g.122284350A>CCA354159702CASRc.2165A>C (p.Glu722Ala)
c.2426A>C (p.Glu809Ala)
c.2396A>C (p.Glu799Ala)
c.1913A>C (p.Glu638Ala)
c.1808A>C (p.Glu603Ala)

Number of alleles fetched