Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.94298471T>ACA377641846PLCE1c.4336T>A (p.Cys1446Ser)
c.*1803T>A (n.*1803T>A)
n.1995T>A
n.679T>A
c.*544T>A (n.*544T>A)
c.4288T>A (p.Cys1430Ser)
n.9468T>A
n.2933T>A
c.5128T>A (p.Cys1710Ser)
c.5212T>A (p.Cys1738Ser)
c.5260T>A (p.Cys1754Ser)
c.4234T>A (p.Cys1412Ser)
c.3815T>A
c.3376T>A (p.Cys1126Ser)
c.*1193T>A (n.*1193T>A)
c.4529T>A
c.4105T>A (p.Cys1369Ser)
c.5302T>A (p.Cys1768Ser)
c.5299T>A (p.Cys1767Ser)
c.5254T>A (p.Cys1752Ser)
c.4378T>A (p.Cys1460Ser)
c.4147T>A (p.Cys1383Ser)
10g.94298471T>CCA377641844PLCE1c.4336T>C (p.Cys1446Arg)
c.*1803T>C (n.*1803T>C)
n.1995T>C
n.679T>C
c.*544T>C (n.*544T>C)
c.4288T>C (p.Cys1430Arg)
n.9468T>C
n.2933T>C
c.5128T>C (p.Cys1710Arg)
c.5212T>C (p.Cys1738Arg)
c.5260T>C (p.Cys1754Arg)
c.4234T>C (p.Cys1412Arg)
c.3815T>C
c.3376T>C (p.Cys1126Arg)
c.*1193T>C (n.*1193T>C)
c.4529T>C
c.4105T>C (p.Cys1369Arg)
c.5302T>C (p.Cys1768Arg)
c.5299T>C (p.Cys1767Arg)
c.5254T>C (p.Cys1752Arg)
c.4378T>C (p.Cys1460Arg)
c.4147T>C (p.Cys1383Arg)
10g.94298471T>GCA377641845PLCE1c.4336T>G (p.Cys1446Gly)
c.*1803T>G (n.*1803T>G)
n.1995T>G
n.679T>G
c.*544T>G (n.*544T>G)
c.4288T>G (p.Cys1430Gly)
n.9468T>G
n.2933T>G
c.5128T>G (p.Cys1710Gly)
c.5212T>G (p.Cys1738Gly)
c.5260T>G (p.Cys1754Gly)
c.4234T>G (p.Cys1412Gly)
c.3815T>G
c.3376T>G (p.Cys1126Gly)
c.*1193T>G (n.*1193T>G)
c.4529T>G
c.4105T>G (p.Cys1369Gly)
c.5302T>G (p.Cys1768Gly)
c.5299T>G (p.Cys1767Gly)
c.5254T>G (p.Cys1752Gly)
c.4378T>G (p.Cys1460Gly)
c.4147T>G (p.Cys1383Gly)
10g.94298472G>ACA377641847PLCE1c.4337G>A (p.Cys1446Tyr)
c.*1804G>A (n.*1804G>A)
n.1996G>A
n.680G>A
c.*545G>A (n.*545G>A)
c.4289G>A (p.Cys1430Tyr)
n.9469G>A
n.2934G>A
c.5129G>A (p.Cys1710Tyr)
c.5213G>A (p.Cys1738Tyr)
c.5261G>A (p.Cys1754Tyr)
c.4235G>A (p.Cys1412Tyr)
c.3816G>A
c.3377G>A (p.Cys1126Tyr)
c.*1194G>A (n.*1194G>A)
c.4530G>A
c.4106G>A (p.Cys1369Tyr)
c.5303G>A (p.Cys1768Tyr)
c.5300G>A (p.Cys1767Tyr)
c.5255G>A (p.Cys1752Tyr)
c.4379G>A (p.Cys1460Tyr)
c.4148G>A (p.Cys1383Tyr)
 dbSNP
10g.94298472G>CCA377641848PLCE1c.4337G>C (p.Cys1446Ser)
c.*1804G>C (n.*1804G>C)
n.1996G>C
n.680G>C
c.*545G>C (n.*545G>C)
c.4289G>C (p.Cys1430Ser)
n.9469G>C
n.2934G>C
c.5129G>C (p.Cys1710Ser)
c.5213G>C (p.Cys1738Ser)
c.5261G>C (p.Cys1754Ser)
c.4235G>C (p.Cys1412Ser)
c.3816G>C
c.3377G>C (p.Cys1126Ser)
c.*1194G>C (n.*1194G>C)
c.4530G>C
c.4106G>C (p.Cys1369Ser)
c.5303G>C (p.Cys1768Ser)
c.5300G>C (p.Cys1767Ser)
c.5255G>C (p.Cys1752Ser)
c.4379G>C (p.Cys1460Ser)
c.4148G>C (p.Cys1383Ser)
 gnomAD v4
10g.94298472G=CA1928998406PLCE1c.4337G= (p.Cys1446=)
c.*1804G= (n.*1804G=)
n.1996G=
n.680G=
c.*545G= (n.*545G=)
c.4289G= (p.Cys1430=)
n.9469G=
n.2934G=
c.5129G= (p.Cys1710=)
c.5213G= (p.Cys1738=)
c.5261G= (p.Cys1754=)
c.4235G= (p.Cys1412=)
c.3816G=
c.3377G= (p.Cys1126=)
c.*1194G= (n.*1194G=)
c.4530G=
c.4106G= (p.Cys1369=)
c.5303G= (p.Cys1768=)
c.5300G= (p.Cys1767=)
c.5255G= (p.Cys1752=)
c.4379G= (p.Cys1460=)
c.4148G= (p.Cys1383=)
10g.94298472G>TCA377641849PLCE1c.4337G>T (p.Cys1446Phe)
c.*1804G>T (n.*1804G>T)
n.1996G>T
n.680G>T
c.*545G>T (n.*545G>T)
c.4289G>T (p.Cys1430Phe)
n.9469G>T
n.2934G>T
c.5129G>T (p.Cys1710Phe)
c.5213G>T (p.Cys1738Phe)
c.5261G>T (p.Cys1754Phe)
c.4235G>T (p.Cys1412Phe)
c.3816G>T
c.3377G>T (p.Cys1126Phe)
c.*1194G>T (n.*1194G>T)
c.4530G>T
c.4106G>T (p.Cys1369Phe)
c.5303G>T (p.Cys1768Phe)
c.5300G>T (p.Cys1767Phe)
c.5255G>T (p.Cys1752Phe)
c.4379G>T (p.Cys1460Phe)
c.4148G>T (p.Cys1383Phe)
10g.94298473T>ACA377641850PLCE1c.4338T>A (p.Cys1446Ter)
c.*1805T>A (n.*1805T>A)
n.1997T>A
n.681T>A
c.*546T>A (n.*546T>A)
c.4290T>A (p.Cys1430Ter)
n.9470T>A
n.2935T>A
c.5130T>A (p.Cys1710Ter)
c.5214T>A (p.Cys1738Ter)
c.5262T>A (p.Cys1754Ter)
c.4236T>A (p.Cys1412Ter)
c.3817T>A
c.3378T>A (p.Cys1126Ter)
c.*1195T>A (n.*1195T>A)
c.4531T>A
c.4107T>A (p.Cys1369Ter)
c.5304T>A (p.Cys1768Ter)
c.5301T>A (p.Cys1767Ter)
c.5256T>A (p.Cys1752Ter)
c.4380T>A (p.Cys1460Ter)
c.4149T>A (p.Cys1383Ter)
10g.94298473T>CCA470986480PLCE1c.4338T>C (p.Cys1446=)
c.*1805T>C (n.*1805T>C)
n.1997T>C
n.681T>C
c.*546T>C (n.*546T>C)
c.4290T>C (p.Cys1430=)
n.9470T>C
n.2935T>C
c.5130T>C (p.Cys1710=)
c.5214T>C (p.Cys1738=)
c.5262T>C (p.Cys1754=)
c.4236T>C (p.Cys1412=)
c.3817T>C
c.3378T>C (p.Cys1126=)
c.*1195T>C (n.*1195T>C)
c.4531T>C
c.4107T>C (p.Cys1369=)
c.5304T>C (p.Cys1768=)
c.5301T>C (p.Cys1767=)
c.5256T>C (p.Cys1752=)
c.4380T>C (p.Cys1460=)
c.4149T>C (p.Cys1383=)
10g.94298473T>GCA377641851PLCE1c.4338T>G (p.Cys1446Trp)
c.*1805T>G (n.*1805T>G)
n.1997T>G
n.681T>G
c.*546T>G (n.*546T>G)
c.4290T>G (p.Cys1430Trp)
n.9470T>G
n.2935T>G
c.5130T>G (p.Cys1710Trp)
c.5214T>G (p.Cys1738Trp)
c.5262T>G (p.Cys1754Trp)
c.4236T>G (p.Cys1412Trp)
c.3817T>G
c.3378T>G (p.Cys1126Trp)
c.*1195T>G (n.*1195T>G)
c.4531T>G
c.4107T>G (p.Cys1369Trp)
c.5304T>G (p.Cys1768Trp)
c.5301T>G (p.Cys1767Trp)
c.5256T>G (p.Cys1752Trp)
c.4380T>G (p.Cys1460Trp)
c.4149T>G (p.Cys1383Trp)
10g.94298474T>ACA377641852PLCE1c.4339T>A (p.Tyr1447Asn)
c.*1806T>A (n.*1806T>A)
n.1998T>A
n.682T>A
c.*547T>A (n.*547T>A)
c.4291T>A (p.Tyr1431Asn)
n.9471T>A
n.2936T>A
c.5131T>A (p.Tyr1711Asn)
c.5215T>A (p.Tyr1739Asn)
c.5263T>A (p.Tyr1755Asn)
c.4237T>A (p.Tyr1413Asn)
c.3818T>A
c.3379T>A (p.Tyr1127Asn)
c.*1196T>A (n.*1196T>A)
c.4532T>A
c.4108T>A (p.Tyr1370Asn)
c.5305T>A (p.Tyr1769Asn)
c.5302T>A (p.Tyr1768Asn)
c.5257T>A (p.Tyr1753Asn)
c.4381T>A (p.Tyr1461Asn)
c.4150T>A (p.Tyr1384Asn)
10g.94298474T>CCA377641853PLCE1c.4339T>C (p.Tyr1447His)
c.*1806T>C (n.*1806T>C)
n.1998T>C
n.682T>C
c.*547T>C (n.*547T>C)
c.4291T>C (p.Tyr1431His)
n.9471T>C
n.2936T>C
c.5131T>C (p.Tyr1711His)
c.5215T>C (p.Tyr1739His)
c.5263T>C (p.Tyr1755His)
c.4237T>C (p.Tyr1413His)
c.3818T>C
c.3379T>C (p.Tyr1127His)
c.*1196T>C (n.*1196T>C)
c.4532T>C
c.4108T>C (p.Tyr1370His)
c.5305T>C (p.Tyr1769His)
c.5302T>C (p.Tyr1768His)
c.5257T>C (p.Tyr1753His)
c.4381T>C (p.Tyr1461His)
c.4150T>C (p.Tyr1384His)
10g.94298474T>GCA377641854PLCE1c.4339T>G (p.Tyr1447Asp)
c.*1806T>G (n.*1806T>G)
n.1998T>G
n.682T>G
c.*547T>G (n.*547T>G)
c.4291T>G (p.Tyr1431Asp)
n.9471T>G
n.2936T>G
c.5131T>G (p.Tyr1711Asp)
c.5215T>G (p.Tyr1739Asp)
c.5263T>G (p.Tyr1755Asp)
c.4237T>G (p.Tyr1413Asp)
c.3818T>G
c.3379T>G (p.Tyr1127Asp)
c.*1196T>G (n.*1196T>G)
c.4532T>G
c.4108T>G (p.Tyr1370Asp)
c.5305T>G (p.Tyr1769Asp)
c.5302T>G (p.Tyr1768Asp)
c.5257T>G (p.Tyr1753Asp)
c.4381T>G (p.Tyr1461Asp)
c.4150T>G (p.Tyr1384Asp)
10g.94298475A>CCA377641855PLCE1c.4340A>C (p.Tyr1447Ser)
c.*1807A>C (n.*1807A>C)
n.1999A>C
n.683A>C
c.*548A>C (n.*548A>C)
c.4292A>C (p.Tyr1431Ser)
n.9472A>C
n.2937A>C
c.5132A>C (p.Tyr1711Ser)
c.5216A>C (p.Tyr1739Ser)
c.5264A>C (p.Tyr1755Ser)
c.4238A>C (p.Tyr1413Ser)
c.3819A>C
c.3380A>C (p.Tyr1127Ser)
c.*1197A>C (n.*1197A>C)
c.4533A>C
c.4109A>C (p.Tyr1370Ser)
c.5306A>C (p.Tyr1769Ser)
c.5303A>C (p.Tyr1768Ser)
c.5258A>C (p.Tyr1753Ser)
c.4382A>C (p.Tyr1461Ser)
c.4151A>C (p.Tyr1384Ser)
10g.94298475A>GCA377641856PLCE1c.4340A>G (p.Tyr1447Cys)
c.*1807A>G (n.*1807A>G)
n.1999A>G
n.683A>G
c.*548A>G (n.*548A>G)
c.4292A>G (p.Tyr1431Cys)
n.9472A>G
n.2937A>G
c.5132A>G (p.Tyr1711Cys)
c.5216A>G (p.Tyr1739Cys)
c.5264A>G (p.Tyr1755Cys)
c.4238A>G (p.Tyr1413Cys)
c.3819A>G
c.3380A>G (p.Tyr1127Cys)
c.*1197A>G (n.*1197A>G)
c.4533A>G
c.4109A>G (p.Tyr1370Cys)
c.5306A>G (p.Tyr1769Cys)
c.5303A>G (p.Tyr1768Cys)
c.5258A>G (p.Tyr1753Cys)
c.4382A>G (p.Tyr1461Cys)
c.4151A>G (p.Tyr1384Cys)
 gnomAD v4
10g.94298475A>TCA377641857PLCE1c.4340A>T (p.Tyr1447Phe)
c.*1807A>T (n.*1807A>T)
n.1999A>T
n.683A>T
c.*548A>T (n.*548A>T)
c.4292A>T (p.Tyr1431Phe)
n.9472A>T
n.2937A>T
c.5132A>T (p.Tyr1711Phe)
c.5216A>T (p.Tyr1739Phe)
c.5264A>T (p.Tyr1755Phe)
c.4238A>T (p.Tyr1413Phe)
c.3819A>T
c.3380A>T (p.Tyr1127Phe)
c.*1197A>T (n.*1197A>T)
c.4533A>T
c.4109A>T (p.Tyr1370Phe)
c.5306A>T (p.Tyr1769Phe)
c.5303A>T (p.Tyr1768Phe)
c.5258A>T (p.Tyr1753Phe)
c.4382A>T (p.Tyr1461Phe)
c.4151A>T (p.Tyr1384Phe)
10g.94298476T>ACA377641858PLCE1c.4341T>A (p.Tyr1447Ter)
c.*1808T>A (n.*1808T>A)
n.2000T>A
n.684T>A
c.*549T>A (n.*549T>A)
c.4293T>A (p.Tyr1431Ter)
n.9473T>A
n.2938T>A
c.5133T>A (p.Tyr1711Ter)
c.5217T>A (p.Tyr1739Ter)
c.5265T>A (p.Tyr1755Ter)
c.4239T>A (p.Tyr1413Ter)
c.3820T>A
c.3381T>A (p.Tyr1127Ter)
c.*1198T>A (n.*1198T>A)
c.4534T>A
c.4110T>A (p.Tyr1370Ter)
c.5307T>A (p.Tyr1769Ter)
c.5304T>A (p.Tyr1768Ter)
c.5259T>A (p.Tyr1753Ter)
c.4383T>A (p.Tyr1461Ter)
c.4152T>A (p.Tyr1384Ter)
10g.94298476T>CCA470986481PLCE1c.4341T>C (p.Tyr1447=)
c.*1808T>C (n.*1808T>C)
n.2000T>C
n.684T>C
c.*549T>C (n.*549T>C)
c.4293T>C (p.Tyr1431=)
n.9473T>C
n.2938T>C
c.5133T>C (p.Tyr1711=)
c.5217T>C (p.Tyr1739=)
c.5265T>C (p.Tyr1755=)
c.4239T>C (p.Tyr1413=)
c.3820T>C
c.3381T>C (p.Tyr1127=)
c.*1198T>C (n.*1198T>C)
c.4534T>C
c.4110T>C (p.Tyr1370=)
c.5307T>C (p.Tyr1769=)
c.5304T>C (p.Tyr1768=)
c.5259T>C (p.Tyr1753=)
c.4383T>C (p.Tyr1461=)
c.4152T>C (p.Tyr1384=)
 dbSNP gnomAD v3 gnomAD v4
10g.94298476T>GCA377641859PLCE1c.4341T>G (p.Tyr1447Ter)
c.*1808T>G (n.*1808T>G)
n.2000T>G
n.684T>G
c.*549T>G (n.*549T>G)
c.4293T>G (p.Tyr1431Ter)
n.9473T>G
n.2938T>G
c.5133T>G (p.Tyr1711Ter)
c.5217T>G (p.Tyr1739Ter)
c.5265T>G (p.Tyr1755Ter)
c.4239T>G (p.Tyr1413Ter)
c.3820T>G
c.3381T>G (p.Tyr1127Ter)
c.*1198T>G (n.*1198T>G)
c.4534T>G
c.4110T>G (p.Tyr1370Ter)
c.5307T>G (p.Tyr1769Ter)
c.5304T>G (p.Tyr1768Ter)
c.5259T>G (p.Tyr1753Ter)
c.4383T>G (p.Tyr1461Ter)
c.4152T>G (p.Tyr1384Ter)
10g.94298476T=CA1928998407PLCE1c.4341T= (p.Tyr1447=)
c.*1808T= (n.*1808T=)
n.2000T=
n.684T=
c.*549T= (n.*549T=)
c.4293T= (p.Tyr1431=)
n.9473T=
n.2938T=
c.5133T= (p.Tyr1711=)
c.5217T= (p.Tyr1739=)
c.5265T= (p.Tyr1755=)
c.4239T= (p.Tyr1413=)
c.3820T=
c.3381T= (p.Tyr1127=)
c.*1198T= (n.*1198T=)
c.4534T=
c.4110T= (p.Tyr1370=)
c.5307T= (p.Tyr1769=)
c.5304T= (p.Tyr1768=)
c.5259T= (p.Tyr1753=)
c.4383T= (p.Tyr1461=)
c.4152T= (p.Tyr1384=)
10g.94298477C>ACA377641860PLCE1c.4342C>A (p.His1448Asn)
c.*1809C>A (n.*1809C>A)
n.2001C>A
n.685C>A
c.*550C>A (n.*550C>A)
c.4294C>A (p.His1432Asn)
n.9474C>A
n.2939C>A
c.5134C>A (p.His1712Asn)
c.5218C>A (p.His1740Asn)
c.5266C>A (p.His1756Asn)
c.4240C>A (p.His1414Asn)
c.3821C>A
c.3382C>A (p.His1128Asn)
c.*1199C>A (n.*1199C>A)
c.4535C>A
c.4111C>A
c.5308C>A (p.His1770Asn)
c.5305C>A (p.His1769Asn)
c.5260C>A (p.His1754Asn)
c.4384C>A (p.His1462Asn)
c.4153C>A (p.His1385Asn)
 COSMIC COSMIC COSMIC COSMIC
10g.94298477C>GCA377641862PLCE1c.4342C>G (p.His1448Asp)
c.*1809C>G (n.*1809C>G)
n.2001C>G
n.685C>G
c.*550C>G (n.*550C>G)
c.4294C>G (p.His1432Asp)
n.9474C>G
n.2939C>G
c.5134C>G (p.His1712Asp)
c.5218C>G (p.His1740Asp)
c.5266C>G (p.His1756Asp)
c.4240C>G (p.His1414Asp)
c.3821C>G
c.3382C>G (p.His1128Asp)
c.*1199C>G (n.*1199C>G)
c.4535C>G
c.4111C>G
c.5308C>G (p.His1770Asp)
c.5305C>G (p.His1769Asp)
c.5260C>G (p.His1754Asp)
c.4384C>G (p.His1462Asp)
c.4153C>G (p.His1385Asp)
10g.94298477C>TCA377641861PLCE1c.4342C>T (p.His1448Tyr)
c.*1809C>T (n.*1809C>T)
n.2001C>T
n.685C>T
c.*550C>T (n.*550C>T)
c.4294C>T (p.His1432Tyr)
n.9474C>T
n.2939C>T
c.5134C>T (p.His1712Tyr)
c.5218C>T (p.His1740Tyr)
c.5266C>T (p.His1756Tyr)
c.4240C>T (p.His1414Tyr)
c.3821C>T
c.3382C>T (p.His1128Tyr)
c.*1199C>T (n.*1199C>T)
c.4535C>T
c.4111C>T
c.5308C>T (p.His1770Tyr)
c.5305C>T (p.His1769Tyr)
c.5260C>T (p.His1754Tyr)
c.4384C>T (p.His1462Tyr)
c.4153C>T (p.His1385Tyr)
10g.94298478A=CA1928998408PLCE1c.4343A= (p.His1448=)
c.*1810A= (n.*1810A=)
n.2002A=
n.686A=
c.*551A= (n.*551A=)
c.4295A= (p.His1432=)
n.9475A=
n.2940A=
c.5135A= (p.His1712=)
c.5219A= (p.His1740=)
c.5267A= (p.His1756=)
c.4241A= (p.His1414=)
c.3822A=
c.3383A= (p.His1128=)
c.*1200A= (n.*1200A=)
c.4536A=
c.5309A= (p.His1770=)
c.5306A= (p.His1769=)
c.5261A= (p.His1754=)
c.4385A= (p.His1462=)
c.4154A= (p.His1385=)
10g.94298478A>CCA377641863PLCE1c.4343A>C (p.His1448Pro)
c.*1810A>C (n.*1810A>C)
n.2002A>C
n.686A>C
c.*551A>C (n.*551A>C)
c.4295A>C (p.His1432Pro)
n.9475A>C
n.2940A>C
c.5135A>C (p.His1712Pro)
c.5219A>C (p.His1740Pro)
c.5267A>C (p.His1756Pro)
c.4241A>C (p.His1414Pro)
c.3822A>C
c.3383A>C (p.His1128Pro)
c.*1200A>C (n.*1200A>C)
c.4536A>C
c.5309A>C (p.His1770Pro)
c.5306A>C (p.His1769Pro)
c.5261A>C (p.His1754Pro)
c.4385A>C (p.His1462Pro)
c.4154A>C (p.His1385Pro)
10g.94298478A>GCA5613324PLCE1c.4343A>G (p.His1448Arg)
c.*1810A>G (n.*1810A>G)
n.2002A>G
n.686A>G
c.*551A>G (n.*551A>G)
c.4295A>G (p.His1432Arg)
n.9475A>G
n.2940A>G
c.5135A>G (p.His1712Arg)
c.5219A>G (p.His1740Arg)
c.5267A>G (p.His1756Arg)
c.4241A>G (p.His1414Arg)
c.3822A>G
c.3383A>G (p.His1128Arg)
c.*1200A>G (n.*1200A>G)
c.4536A>G
c.5309A>G (p.His1770Arg)
c.5306A>G (p.His1769Arg)
c.5261A>G (p.His1754Arg)
c.4385A>G (p.His1462Arg)
c.4154A>G (p.His1385Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298478A>TCA377641864PLCE1c.4343A>T (p.His1448Leu)
c.*1810A>T (n.*1810A>T)
n.2002A>T
n.686A>T
c.*551A>T (n.*551A>T)
c.4295A>T (p.His1432Leu)
n.9475A>T
n.2940A>T
c.5135A>T (p.His1712Leu)
c.5219A>T (p.His1740Leu)
c.5267A>T (p.His1756Leu)
c.4241A>T (p.His1414Leu)
c.3822A>T
c.3383A>T (p.His1128Leu)
c.*1200A>T (n.*1200A>T)
c.4536A>T
c.5309A>T (p.His1770Leu)
c.5306A>T (p.His1769Leu)
c.5261A>T (p.His1754Leu)
c.4385A>T (p.His1462Leu)
c.4154A>T (p.His1385Leu)
10g.94298479T>ACA377641865PLCE1c.4344T>A (p.His1448Gln)
c.*1811T>A (n.*1811T>A)
n.2003T>A
n.687T>A
c.*552T>A (n.*552T>A)
c.4296T>A (p.His1432Gln)
n.9476T>A
n.2941T>A
c.5136T>A (p.His1712Gln)
c.5220T>A (p.His1740Gln)
c.5268T>A (p.His1756Gln)
c.4242T>A (p.His1414Gln)
c.3823T>A
c.3384T>A (p.His1128Gln)
c.*1201T>A (n.*1201T>A)
c.4537T>A
c.5310T>A (p.His1770Gln)
c.5307T>A (p.His1769Gln)
c.5262T>A (p.His1754Gln)
c.4386T>A (p.His1462Gln)
c.4155T>A (p.His1385Gln)
10g.94298479T>CCA470986482PLCE1c.4344T>C (p.His1448=)
c.*1811T>C (n.*1811T>C)
n.2003T>C
n.687T>C
c.*552T>C (n.*552T>C)
c.4296T>C (p.His1432=)
n.9476T>C
n.2941T>C
c.5136T>C (p.His1712=)
c.5220T>C (p.His1740=)
c.5268T>C (p.His1756=)
c.4242T>C (p.His1414=)
c.3823T>C
c.3384T>C (p.His1128=)
c.*1201T>C (n.*1201T>C)
c.4537T>C
c.5310T>C (p.His1770=)
c.5307T>C (p.His1769=)
c.5262T>C (p.His1754=)
c.4386T>C (p.His1462=)
c.4155T>C (p.His1385=)
 dbSNP gnomAD v4
10g.94298479T>GCA377641866PLCE1c.4344T>G (p.His1448Gln)
c.*1811T>G (n.*1811T>G)
n.2003T>G
n.687T>G
c.*552T>G (n.*552T>G)
c.4296T>G (p.His1432Gln)
n.9476T>G
n.2941T>G
c.5136T>G (p.His1712Gln)
c.5220T>G (p.His1740Gln)
c.5268T>G (p.His1756Gln)
c.4242T>G (p.His1414Gln)
c.3823T>G
c.3384T>G (p.His1128Gln)
c.*1201T>G (n.*1201T>G)
c.4537T>G
c.5310T>G (p.His1770Gln)
c.5307T>G (p.His1769Gln)
c.5262T>G (p.His1754Gln)
c.4386T>G (p.His1462Gln)
c.4155T>G (p.His1385Gln)
10g.94298479T=CA1928998409PLCE1c.4344T= (p.His1448=)
c.*1811T= (n.*1811T=)
n.2003T=
n.687T=
c.*552T= (n.*552T=)
c.4296T= (p.His1432=)
n.9476T=
n.2941T=
c.5136T= (p.His1712=)
c.5220T= (p.His1740=)
c.5268T= (p.His1756=)
c.4242T= (p.His1414=)
c.3823T=
c.3384T= (p.His1128=)
c.*1201T= (n.*1201T=)
c.4537T=
c.5310T= (p.His1770=)
c.5307T= (p.His1769=)
c.5262T= (p.His1754=)
c.4386T= (p.His1462=)
c.4155T= (p.His1385=)
10g.94298479dupCA2610239639PLCE1c.4344dup (p.Ile1449TyrfsTer6)
c.*1811dup (n.*1811dup)
n.2003dup
n.687dup
c.*552dup (n.*552dup)
c.4296dup (p.Ile1433TyrfsTer6)
n.9476dup
n.2941dup
c.5136dup (p.Ile1713TyrfsTer6)
c.5220dup (p.Ile1741TyrfsTer6)
c.5268dup (p.Ile1757TyrfsTer6)
c.4242dup (p.Ile1415TyrfsTer6)
c.3823dup
c.3384dup (p.Ile1129TyrfsTer6)
c.*1201dup (n.*1201dup)
c.4537dup
c.5310dup (p.Ile1771TyrfsTer6)
c.5307dup (p.Ile1770TyrfsTer6)
c.5262dup (p.Ile1755TyrfsTer6)
c.4386dup (p.Ile1463TyrfsTer6)
c.4155dup (p.Ile1386TyrfsTer6)
 gnomAD v4
10g.94298480A>CCA377641867PLCE1c.4345A>C (p.Ile1449Leu)
c.*1812A>C (n.*1812A>C)
n.2004A>C
n.688A>C
c.*553A>C (n.*553A>C)
c.4297A>C (p.Ile1433Leu)
n.9477A>C
n.2942A>C
c.5137A>C (p.Ile1713Leu)
c.5221A>C (p.Ile1741Leu)
c.5269A>C (p.Ile1757Leu)
c.4243A>C (p.Ile1415Leu)
c.3824A>C
c.3385A>C (p.Ile1129Leu)
c.*1202A>C (n.*1202A>C)
c.4538A>C
c.5311A>C (p.Ile1771Leu)
c.5308A>C (p.Ile1770Leu)
c.5263A>C (p.Ile1755Leu)
c.4387A>C (p.Ile1463Leu)
c.4156A>C (p.Ile1386Leu)
10g.94298480A>GCA377641868PLCE1c.4345A>G (p.Ile1449Val)
c.*1812A>G (n.*1812A>G)
n.2004A>G
n.688A>G
c.*553A>G (n.*553A>G)
c.4297A>G (p.Ile1433Val)
n.9477A>G
n.2942A>G
c.5137A>G (p.Ile1713Val)
c.5221A>G (p.Ile1741Val)
c.5269A>G (p.Ile1757Val)
c.4243A>G (p.Ile1415Val)
c.3824A>G
c.3385A>G (p.Ile1129Val)
c.*1202A>G (n.*1202A>G)
c.4538A>G
c.5311A>G (p.Ile1771Val)
c.5308A>G (p.Ile1770Val)
c.5263A>G (p.Ile1755Val)
c.4387A>G (p.Ile1463Val)
c.4156A>G (p.Ile1386Val)
 gnomAD v4
10g.94298480A>TCA377641869PLCE1c.4345A>T (p.Ile1449Phe)
c.*1812A>T (n.*1812A>T)
n.2004A>T
n.688A>T
c.*553A>T (n.*553A>T)
c.4297A>T (p.Ile1433Phe)
n.9477A>T
n.2942A>T
c.5137A>T (p.Ile1713Phe)
c.5221A>T (p.Ile1741Phe)
c.5269A>T (p.Ile1757Phe)
c.4243A>T (p.Ile1415Phe)
c.3824A>T
c.3385A>T (p.Ile1129Phe)
c.*1202A>T (n.*1202A>T)
c.4538A>T
c.5311A>T (p.Ile1771Phe)
c.5308A>T (p.Ile1770Phe)
c.5263A>T (p.Ile1755Phe)
c.4387A>T (p.Ile1463Phe)
c.4156A>T (p.Ile1386Phe)
10g.94298481T>ACA377641870PLCE1c.4346T>A (p.Ile1449Asn)
c.*1813T>A (n.*1813T>A)
n.2005T>A
n.689T>A
c.*554T>A (n.*554T>A)
c.4298T>A (p.Ile1433Asn)
n.9478T>A
n.2943T>A
c.5138T>A (p.Ile1713Asn)
c.5222T>A (p.Ile1741Asn)
c.5270T>A (p.Ile1757Asn)
c.4244T>A (p.Ile1415Asn)
c.3825T>A
c.3386T>A (p.Ile1129Asn)
c.*1203T>A (n.*1203T>A)
c.4539T>A
c.5312T>A (p.Ile1771Asn)
c.5309T>A (p.Ile1770Asn)
c.5264T>A (p.Ile1755Asn)
c.4388T>A (p.Ile1463Asn)
c.4157T>A (p.Ile1386Asn)
 gnomAD v4
10g.94298481T>CCA377641871PLCE1c.4346T>C (p.Ile1449Thr)
c.*1813T>C (n.*1813T>C)
n.2005T>C
n.689T>C
c.*554T>C (n.*554T>C)
c.4298T>C (p.Ile1433Thr)
n.9478T>C
n.2943T>C
c.5138T>C (p.Ile1713Thr)
c.5222T>C (p.Ile1741Thr)
c.5270T>C (p.Ile1757Thr)
c.4244T>C (p.Ile1415Thr)
c.3825T>C
c.3386T>C (p.Ile1129Thr)
c.*1203T>C (n.*1203T>C)
c.4539T>C
c.5312T>C (p.Ile1771Thr)
c.5309T>C (p.Ile1770Thr)
c.5264T>C (p.Ile1755Thr)
c.4388T>C (p.Ile1463Thr)
c.4157T>C (p.Ile1386Thr)
10g.94298481T>GCA377641872PLCE1c.4346T>G (p.Ile1449Ser)
c.*1813T>G (n.*1813T>G)
n.2005T>G
n.689T>G
c.*554T>G (n.*554T>G)
c.4298T>G (p.Ile1433Ser)
n.9478T>G
n.2943T>G
c.5138T>G (p.Ile1713Ser)
c.5222T>G (p.Ile1741Ser)
c.5270T>G (p.Ile1757Ser)
c.4244T>G (p.Ile1415Ser)
c.3825T>G
c.3386T>G (p.Ile1129Ser)
c.*1203T>G (n.*1203T>G)
c.4539T>G
c.5312T>G (p.Ile1771Ser)
c.5309T>G (p.Ile1770Ser)
c.5264T>G (p.Ile1755Ser)
c.4388T>G (p.Ile1463Ser)
c.4157T>G (p.Ile1386Ser)
10g.94298482C>ACA470986483PLCE1c.4347C>A (p.Ile1449=)
c.*1814C>A (n.*1814C>A)
n.2006C>A
n.690C>A
c.*555C>A (n.*555C>A)
c.4299C>A (p.Ile1433=)
n.9479C>A
n.2944C>A
c.5139C>A (p.Ile1713=)
c.5223C>A (p.Ile1741=)
c.5271C>A (p.Ile1757=)
c.4245C>A (p.Ile1415=)
c.3826C>A
c.3387C>A (p.Ile1129=)
c.*1204C>A (n.*1204C>A)
c.4540C>A
c.5313C>A (p.Ile1771=)
c.5310C>A (p.Ile1770=)
c.5265C>A (p.Ile1755=)
c.4389C>A (p.Ile1463=)
c.4158C>A (p.Ile1386=)
10g.94298482C=CA1928998410PLCE1c.4347C= (p.Ile1449=)
c.*1814C= (n.*1814C=)
n.2006C=
n.690C=
c.*555C= (n.*555C=)
c.4299C= (p.Ile1433=)
n.9479C=
n.2944C=
c.5139C= (p.Ile1713=)
c.5223C= (p.Ile1741=)
c.5271C= (p.Ile1757=)
c.4245C= (p.Ile1415=)
c.3826C=
c.3387C= (p.Ile1129=)
c.*1204C= (n.*1204C=)
c.4540C=
c.5313C= (p.Ile1771=)
c.5310C= (p.Ile1770=)
c.5265C= (p.Ile1755=)
c.4389C= (p.Ile1463=)
c.4158C= (p.Ile1386=)
10g.94298482C>GCA377641873PLCE1c.4347C>G (p.Ile1449Met)
c.*1814C>G (n.*1814C>G)
n.2006C>G
n.690C>G
c.*555C>G (n.*555C>G)
c.4299C>G (p.Ile1433Met)
n.9479C>G
n.2944C>G
c.5139C>G (p.Ile1713Met)
c.5223C>G (p.Ile1741Met)
c.5271C>G (p.Ile1757Met)
c.4245C>G (p.Ile1415Met)
c.3826C>G
c.3387C>G (p.Ile1129Met)
c.*1204C>G (n.*1204C>G)
c.4540C>G
c.5313C>G (p.Ile1771Met)
c.5310C>G (p.Ile1770Met)
c.5265C>G (p.Ile1755Met)
c.4389C>G (p.Ile1463Met)
c.4158C>G (p.Ile1386Met)
10g.94298482C>TCA211599649PLCE1c.4347C>T (p.Ile1449=)
c.*1814C>T (n.*1814C>T)
n.2006C>T
n.690C>T
c.*555C>T (n.*555C>T)
c.4299C>T (p.Ile1433=)
n.9479C>T
n.2944C>T
c.5139C>T (p.Ile1713=)
c.5223C>T (p.Ile1741=)
c.5271C>T (p.Ile1757=)
c.4245C>T (p.Ile1415=)
c.3826C>T
c.3387C>T (p.Ile1129=)
c.*1204C>T (n.*1204C>T)
c.4540C>T
c.5313C>T (p.Ile1771=)
c.5310C>T (p.Ile1770=)
c.5265C>T (p.Ile1755=)
c.4389C>T (p.Ile1463=)
c.4158C>T (p.Ile1386=)
 dbSNP
10g.94298483T>ACA377641876PLCE1c.4348T>A (p.Ser1450Thr)
c.*1815T>A (n.*1815T>A)
n.2007T>A
n.691T>A
c.*556T>A (n.*556T>A)
c.4300T>A (p.Ser1434Thr)
n.9480T>A
n.2945T>A
c.5140T>A (p.Ser1714Thr)
c.5224T>A (p.Ser1742Thr)
c.5272T>A (p.Ser1758Thr)
c.4246T>A (p.Ser1416Thr)
c.3827T>A
c.3388T>A (p.Ser1130Thr)
c.*1205T>A (n.*1205T>A)
c.4541T>A
c.5314T>A (p.Ser1772Thr)
c.5311T>A (p.Ser1771Thr)
c.5266T>A (p.Ser1756Thr)
c.4390T>A (p.Ser1464Thr)
c.4159T>A (p.Ser1387Thr)
10g.94298483T>CCA377641874PLCE1c.4348T>C (p.Ser1450Pro)
c.*1815T>C (n.*1815T>C)
n.2007T>C
n.691T>C
c.*556T>C (n.*556T>C)
c.4300T>C (p.Ser1434Pro)
n.9480T>C
n.2945T>C
c.5140T>C (p.Ser1714Pro)
c.5224T>C (p.Ser1742Pro)
c.5272T>C (p.Ser1758Pro)
c.4246T>C (p.Ser1416Pro)
c.3827T>C
c.3388T>C (p.Ser1130Pro)
c.*1205T>C (n.*1205T>C)
c.4541T>C
c.5314T>C (p.Ser1772Pro)
c.5311T>C (p.Ser1771Pro)
c.5266T>C (p.Ser1756Pro)
c.4390T>C (p.Ser1464Pro)
c.4159T>C (p.Ser1387Pro)
10g.94298483T>GCA377641875PLCE1c.4348T>G (p.Ser1450Ala)
c.*1815T>G (n.*1815T>G)
n.2007T>G
n.691T>G
c.*556T>G (n.*556T>G)
c.4300T>G (p.Ser1434Ala)
n.9480T>G
n.2945T>G
c.5140T>G (p.Ser1714Ala)
c.5224T>G (p.Ser1742Ala)
c.5272T>G (p.Ser1758Ala)
c.4246T>G (p.Ser1416Ala)
c.3827T>G
c.3388T>G (p.Ser1130Ala)
c.*1205T>G (n.*1205T>G)
c.4541T>G
c.5314T>G (p.Ser1772Ala)
c.5311T>G (p.Ser1771Ala)
c.5266T>G (p.Ser1756Ala)
c.4390T>G (p.Ser1464Ala)
c.4159T>G (p.Ser1387Ala)
10g.94298484C>ACA377641877PLCE1c.4349C>A (p.Ser1450Ter)
c.*1816C>A (n.*1816C>A)
n.2008C>A
n.692C>A
c.*557C>A (n.*557C>A)
c.4301C>A (p.Ser1434Ter)
n.9481C>A
n.2946C>A
c.5141C>A (p.Ser1714Ter)
c.5225C>A (p.Ser1742Ter)
c.5273C>A (p.Ser1758Ter)
c.4247C>A (p.Ser1416Ter)
c.3828C>A
c.3389C>A (p.Ser1130Ter)
c.*1206C>A (n.*1206C>A)
c.4542C>A
c.5315C>A (p.Ser1772Ter)
c.5312C>A (p.Ser1771Ter)
c.5267C>A (p.Ser1756Ter)
c.4391C>A (p.Ser1464Ter)
c.4160C>A (p.Ser1387Ter)
10g.94298484C>GCA377641878PLCE1c.4349C>G (p.Ser1450Trp)
c.*1816C>G (n.*1816C>G)
n.2008C>G
n.692C>G
c.*557C>G (n.*557C>G)
c.4301C>G (p.Ser1434Trp)
n.9481C>G
n.2946C>G
c.5141C>G (p.Ser1714Trp)
c.5225C>G (p.Ser1742Trp)
c.5273C>G (p.Ser1758Trp)
c.4247C>G (p.Ser1416Trp)
c.3828C>G
c.3389C>G (p.Ser1130Trp)
c.*1206C>G (n.*1206C>G)
c.4542C>G
c.5315C>G (p.Ser1772Trp)
c.5312C>G (p.Ser1771Trp)
c.5267C>G (p.Ser1756Trp)
c.4391C>G (p.Ser1464Trp)
c.4160C>G (p.Ser1387Trp)
10g.94298484C>TCA377641879PLCE1c.4349C>T (p.Ser1450Leu)
c.*1816C>T (n.*1816C>T)
n.2008C>T
n.692C>T
c.*557C>T (n.*557C>T)
c.4301C>T (p.Ser1434Leu)
n.9481C>T
n.2946C>T
c.5141C>T (p.Ser1714Leu)
c.5225C>T (p.Ser1742Leu)
c.5273C>T (p.Ser1758Leu)
c.4247C>T (p.Ser1416Leu)
c.3828C>T
c.3389C>T (p.Ser1130Leu)
c.*1206C>T (n.*1206C>T)
c.4542C>T
c.5315C>T (p.Ser1772Leu)
c.5312C>T (p.Ser1771Leu)
c.5267C>T (p.Ser1756Leu)
c.4391C>T (p.Ser1464Leu)
c.4160C>T (p.Ser1387Leu)
 gnomAD v4
10g.94298485G>ACA5613325PLCE1c.4350G>A (p.Ser1450=)
c.*1817G>A (n.*1817G>A)
n.2009G>A
n.693G>A
c.*558G>A (n.*558G>A)
c.4302G>A (p.Ser1434=)
n.9482G>A
n.2947G>A
c.5142G>A (p.Ser1714=)
c.5226G>A (p.Ser1742=)
c.5274G>A (p.Ser1758=)
c.4248G>A (p.Ser1416=)
c.3829G>A
c.3390G>A (p.Ser1130=)
c.*1207G>A (n.*1207G>A)
c.4543G>A
c.5316G>A (p.Ser1772=)
c.5313G>A (p.Ser1771=)
c.5268G>A (p.Ser1756=)
c.4392G>A (p.Ser1464=)
c.4161G>A (p.Ser1387=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298485G>CCA470986490PLCE1c.4350G>C (p.Ser1450=)
c.*1817G>C (n.*1817G>C)
n.2009G>C
n.693G>C
c.*558G>C (n.*558G>C)
c.4302G>C (p.Ser1434=)
n.9482G>C
n.2947G>C
c.5142G>C (p.Ser1714=)
c.5226G>C (p.Ser1742=)
c.5274G>C (p.Ser1758=)
c.4248G>C (p.Ser1416=)
c.3829G>C
c.3390G>C (p.Ser1130=)
c.*1207G>C (n.*1207G>C)
c.4543G>C
c.5316G>C (p.Ser1772=)
c.5313G>C (p.Ser1771=)
c.5268G>C (p.Ser1756=)
c.4392G>C (p.Ser1464=)
c.4161G>C (p.Ser1387=)
 gnomAD v4

Number of alleles fetched