Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11449338G>ACA404137760PRKCSHc.1504G>A (p.Glu502Lys)
c.1534G>A (p.Glu512Lys)
c.529G>A (p.Glu177Lys)
n.696G>A
c.1513G>A (p.Glu505Lys)
19g.11449338G>CCA404137761PRKCSHc.1504G>C (p.Glu502Gln)
c.1534G>C (p.Glu512Gln)
c.529G>C (p.Glu177Gln)
n.696G>C
c.1513G>C (p.Glu505Gln)
19g.11449338G=CA2322941373PRKCSHc.1504G= (p.Glu502=)
c.1534G= (p.Glu512=)
c.529G= (p.Glu177=)
n.696G=
c.1513G= (p.Glu505=)
19g.11449338G>TCA221951PRKCSHc.1504G>T (p.Glu502Ter)
c.1534G>T (p.Glu512Ter)
c.529G>T (p.Glu177Ter)
n.696G>T
c.1513G>T (p.Glu505Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11449339A>CCA404137763PRKCSHc.1505A>C (p.Glu502Ala)
c.1535A>C (p.Glu512Ala)
c.530A>C (p.Glu177Ala)
n.697A>C
c.1514A>C (p.Glu505Ala)
19g.11449339A>GCA404137764PRKCSHc.1505A>G (p.Glu502Gly)
c.1535A>G (p.Glu512Gly)
c.530A>G (p.Glu177Gly)
n.697A>G
c.1514A>G (p.Glu505Gly)
19g.11449339A>TCA404137765PRKCSHc.1505A>T (p.Glu502Val)
c.1535A>T (p.Glu512Val)
c.530A>T (p.Glu177Val)
n.697A>T
c.1514A>T (p.Glu505Val)
 gnomAD v4
19g.11449340G>ACA9213359PRKCSHc.1506G>A (p.Glu502=)
c.1536G>A (p.Glu512=)
c.531G>A (p.Glu177=)
n.698G>A
c.1515G>A (p.Glu505=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11449340G>CCA404137768PRKCSHc.1506G>C (p.Glu502Asp)
c.1536G>C (p.Glu512Asp)
c.531G>C (p.Glu177Asp)
n.698G>C
c.1515G>C (p.Glu505Asp)
19g.11449340G=CA2322941374PRKCSHc.1506G= (p.Glu502=)
c.1536G= (p.Glu512=)
c.531G= (p.Glu177=)
n.698G=
c.1515G= (p.Glu505=)
19g.11449340G>TCA404137766PRKCSHc.1506G>T (p.Glu502Asp)
c.1536G>T (p.Glu512Asp)
c.531G>T (p.Glu177Asp)
n.698G>T
c.1515G>T (p.Glu505Asp)
19g.11449341C>ACA404137769PRKCSHc.1507C>A (p.Leu503Met)
c.1537C>A (p.Leu513Met)
c.532C>A (p.Leu178Met)
n.699C>A
c.1516C>A (p.Leu506Met)
19g.11449341C>GCA404137771PRKCSHc.1507C>G (p.Leu503Val)
c.1537C>G (p.Leu513Val)
c.532C>G (p.Leu178Val)
n.699C>G
c.1516C>G (p.Leu506Val)
19g.11449341C>TCA505517025PRKCSHc.1507C>T (p.Leu503=)
c.1537C>T (p.Leu513=)
c.532C>T (p.Leu178=)
n.699C>T
c.1516C>T (p.Leu506=)
19g.11449342T>ACA404137772PRKCSHc.1508T>A (p.Leu503Gln)
c.1538T>A (p.Leu513Gln)
c.533T>A (p.Leu178Gln)
n.700T>A
c.1517T>A (p.Leu506Gln)
19g.11449342T>CCA404137773PRKCSHc.1508T>C (p.Leu503Pro)
c.1538T>C (p.Leu513Pro)
c.533T>C (p.Leu178Pro)
n.700T>C
c.1517T>C (p.Leu506Pro)
19g.11449342T>GCA404137774PRKCSHc.1508T>G (p.Leu503Arg)
c.1538T>G (p.Leu513Arg)
c.533T>G (p.Leu178Arg)
n.700T>G
c.1517T>G (p.Leu506Arg)
19g.11449343G>ACA505517026PRKCSHc.1509G>A (p.Leu503=)
c.1539G>A (p.Leu513=)
c.534G>A (p.Leu178=)
n.701G>A
c.1518G>A (p.Leu506=)
 dbSNP
19g.11449343G>CCA505517027PRKCSHc.1509G>C (p.Leu503=)
c.1539G>C (p.Leu513=)
c.534G>C (p.Leu178=)
n.701G>C
c.1518G>C (p.Leu506=)
19g.11449343G=CA2322941375PRKCSHc.1509G= (p.Leu503=)
c.1539G= (p.Leu513=)
c.534G= (p.Leu178=)
n.701G=
c.1518G= (p.Leu506=)
19g.11449343G>TCA505517028PRKCSHc.1509G>T (p.Leu503=)
c.1539G>T (p.Leu513=)
c.534G>T (p.Leu178=)
n.701G>T
c.1518G>T (p.Leu506=)
19g.11449344A>CCA404137779PRKCSHc.1510A>C (p.Met504Leu)
c.1540A>C (p.Met514Leu)
c.535A>C (p.Met179Leu)
n.702A>C
c.1519A>C (p.Met507Leu)
19g.11449344A>GCA404137778PRKCSHc.1510A>G (p.Met504Val)
c.1540A>G (p.Met514Val)
c.535A>G (p.Met179Val)
n.702A>G
c.1519A>G (p.Met507Val)
19g.11449344A>TCA404137776PRKCSHc.1510A>T (p.Met504Leu)
c.1540A>T (p.Met514Leu)
c.535A>T (p.Met179Leu)
n.702A>T
c.1519A>T (p.Met507Leu)
19g.11449345T>ACA404137780PRKCSHc.1511T>A (p.Met504Lys)
c.1541T>A (p.Met514Lys)
c.536T>A (p.Met179Lys)
n.703T>A
c.1520T>A (p.Met507Lys)
 gnomAD v4
19g.11449345T>CCA404137781PRKCSHc.1511T>C (p.Met504Thr)
c.1541T>C (p.Met514Thr)
c.536T>C (p.Met179Thr)
n.703T>C
c.1520T>C (p.Met507Thr)
19g.11449345T>GCA404137783PRKCSHc.1511T>G (p.Met504Arg)
c.1541T>G (p.Met514Arg)
c.536T>G (p.Met179Arg)
n.703T>G
c.1520T>G (p.Met507Arg)
 dbSNP gnomAD v3 gnomAD v4
19g.11449345T=CA2322941376PRKCSHc.1511T= (p.Met504=)
c.1541T= (p.Met514=)
c.536T= (p.Met179=)
n.703T=
c.1520T= (p.Met507=)
19g.11449346G>ACA404137785PRKCSHc.1512G>A (p.Met504Ile)
c.1542G>A (p.Met514Ile)
c.537G>A (p.Met179Ile)
n.704G>A
c.1521G>A (p.Met507Ile)
19g.11449346G>CCA404137787PRKCSHc.1512G>C (p.Met504Ile)
c.1542G>C (p.Met514Ile)
c.537G>C (p.Met179Ile)
n.704G>C
c.1521G>C (p.Met507Ile)
19g.11449346G=CA2322941377PRKCSHc.1512G= (p.Met504=)
c.1542G= (p.Met514=)
c.537G= (p.Met179=)
n.704G=
c.1521G= (p.Met507=)
19g.11449346G>TCA404137788PRKCSHc.1512G>T (p.Met504Ile)
c.1542G>T (p.Met514Ile)
c.537G>T (p.Met179Ile)
n.704G>T
c.1521G>T (p.Met507Ile)
 dbSNP gnomAD v2 gnomAD v4
19g.11449347A>CCA404137793PRKCSHc.1513A>C (p.Thr505Pro)
c.1543A>C (p.Thr515Pro)
c.538A>C (p.Thr180Pro)
n.705A>C
c.1522A>C (p.Thr508Pro)
19g.11449347A>GCA404137790PRKCSHc.1513A>G (p.Thr505Ala)
c.1543A>G (p.Thr515Ala)
c.538A>G (p.Thr180Ala)
n.705A>G
c.1522A>G (p.Thr508Ala)
19g.11449347A>TCA404137792PRKCSHc.1513A>T (p.Thr505Ser)
c.1543A>T (p.Thr515Ser)
c.538A>T (p.Thr180Ser)
n.705A>T
c.1522A>T (p.Thr508Ser)
19g.11449348C>ACA404137794PRKCSHc.1514C>A (p.Thr505Lys)
c.1544C>A (p.Thr515Lys)
c.539C>A (p.Thr180Lys)
n.706C>A
c.1523C>A (p.Thr508Lys)
19g.11449348C=CA2322941378PRKCSHc.1514C= (p.Thr505=)
c.1544C= (p.Thr515=)
c.539C= (p.Thr180=)
n.706C=
c.1523C= (p.Thr508=)
19g.11449348C>GCA404137796PRKCSHc.1514C>G (p.Thr505Arg)
c.1544C>G (p.Thr515Arg)
c.539C>G (p.Thr180Arg)
n.706C>G
c.1523C>G (p.Thr508Arg)
19g.11449348C>TCA9213360PRKCSHc.1514C>T (p.Thr505Met)
c.1544C>T (p.Thr515Met)
c.539C>T (p.Thr180Met)
n.706C>T
c.1523C>T (p.Thr508Met)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.11449349G>ACA9213361PRKCSHc.1515G>A (p.Thr505=)
c.1545G>A (p.Thr515=)
c.540G>A (p.Thr180=)
n.707G>A
c.1524G>A (p.Thr508=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11449349G>CCA505517029PRKCSHc.1515G>C (p.Thr505=)
c.1545G>C (p.Thr515=)
c.540G>C (p.Thr180=)
n.707G>C
c.1524G>C (p.Thr508=)
19g.11449349G=CA2322941379PRKCSHc.1515G= (p.Thr505=)
c.1545G= (p.Thr515=)
c.540G= (p.Thr180=)
n.707G=
c.1524G= (p.Thr508=)
19g.11449349G>TCA505517030PRKCSHc.1515G>T (p.Thr505=)
c.1545G>T (p.Thr515=)
c.540G>T (p.Thr180=)
n.707G>T
c.1524G>T (p.Thr508=)
19g.11449350C>ACA404137798PRKCSHc.1516C>A (p.Pro506Thr)
c.1546C>A (p.Pro516Thr)
c.541C>A (p.Pro181Thr)
n.708C>A
c.1525C>A (p.Pro509Thr)
19g.11449350C>GCA404137799PRKCSHc.1516C>G (p.Pro506Ala)
c.1546C>G (p.Pro516Ala)
c.541C>G (p.Pro181Ala)
n.708C>G
c.1525C>G (p.Pro509Ala)
19g.11449350C>TCA404137800PRKCSHc.1516C>T (p.Pro506Ser)
c.1546C>T (p.Pro516Ser)
c.541C>T (p.Pro181Ser)
n.708C>T
c.1525C>T (p.Pro509Ser)
19g.11449351C>ACA404137802PRKCSHc.1517C>A (p.Pro506Gln)
c.1547C>A (p.Pro516Gln)
c.542C>A (p.Pro181Gln)
n.709C>A
c.1526C>A (p.Pro509Gln)
19g.11449351C>GCA404137804PRKCSHc.1517C>G (p.Pro506Arg)
c.1547C>G (p.Pro516Arg)
c.542C>G (p.Pro181Arg)
n.709C>G
c.1526C>G (p.Pro509Arg)
19g.11449351C>TCA404137806PRKCSHc.1517C>T (p.Pro506Leu)
c.1547C>T (p.Pro516Leu)
c.542C>T (p.Pro181Leu)
n.709C>T
c.1526C>T (p.Pro509Leu)
19g.11449352A>CCA505517031PRKCSHc.1518A>C (p.Pro506=)
c.1548A>C (p.Pro516=)
c.543A>C (p.Pro181=)
n.710A>C
c.1527A>C (p.Pro509=)

Number of alleles fetched