Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.94298471T>A | CA377641846 | PLCE1 | c.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) | |
10 | g.94298471T>C | CA377641844 | PLCE1 | c.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) | |
10 | g.94298471T>G | CA377641845 | PLCE1 | c.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) | |
10 | g.94298472G>A | CA377641847 | PLCE1 | c.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 |
10 | g.94298472G>C | CA377641848 | PLCE1 | c.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 |
10 | g.94298472G= | CA1928998406 | PLCE1 | c.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=) | |
10 | g.94298472G>T | CA377641849 | PLCE1 | c.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) | |
10 | g.94298473T>A | CA377641850 | PLCE1 | c.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) | |
10 | g.94298473T>C | CA470986480 | PLCE1 | c.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=) | |
10 | g.94298473T>G | CA377641851 | PLCE1 | c.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) | |
10 | g.94298474T>A | CA377641852 | PLCE1 | c.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) | |
10 | g.94298474T>C | CA377641853 | PLCE1 | c.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) | |
10 | g.94298474T>G | CA377641854 | PLCE1 | c.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) | |
10 | g.94298475A>C | CA377641855 | PLCE1 | c.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) | |
10 | g.94298475A>G | CA377641856 | PLCE1 | c.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 |
10 | g.94298475A>T | CA377641857 | PLCE1 | c.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) | |
10 | g.94298476T>A | CA377641858 | PLCE1 | c.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) | |
10 | g.94298476T>C | CA470986481 | PLCE1 | c.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 |
10 | g.94298476T>G | CA377641859 | PLCE1 | c.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) | |
10 | g.94298476T= | CA1928998407 | PLCE1 | c.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=) | |
10 | g.94298477C>A | CA377641860 | PLCE1 | c.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 |
10 | g.94298477C>G | CA377641862 | PLCE1 | c.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) | |
10 | g.94298477C>T | CA377641861 | PLCE1 | c.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) | |
10 | g.94298478A= | CA1928998408 | PLCE1 | c.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=) | |
10 | g.94298478A>C | CA377641863 | PLCE1 | c.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) | |
10 | g.94298478A>G | CA5613324 | PLCE1 | c.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 |
10 | g.94298478A>T | CA377641864 | PLCE1 | c.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) | |
10 | g.94298479T>A | CA377641865 | PLCE1 | c.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) | |
10 | g.94298479T>C | CA470986482 | PLCE1 | c.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 |
10 | g.94298479T>G | CA377641866 | PLCE1 | c.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) | |
10 | g.94298479T= | CA1928998409 | PLCE1 | c.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=) | |
10 | g.94298479dup | CA2610239639 | PLCE1 | c.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 |
10 | g.94298480A>C | CA377641867 | PLCE1 | c.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) | |
10 | g.94298480A>G | CA377641868 | PLCE1 | c.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 |
10 | g.94298480A>T | CA377641869 | PLCE1 | c.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) | |
10 | g.94298481T>A | CA377641870 | PLCE1 | c.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 |
10 | g.94298481T>C | CA377641871 | PLCE1 | c.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) | |
10 | g.94298481T>G | CA377641872 | PLCE1 | c.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) | |
10 | g.94298482C>A | CA470986483 | PLCE1 | c.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=) | |
10 | g.94298482C= | CA1928998410 | PLCE1 | c.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=) | |
10 | g.94298482C>G | CA377641873 | PLCE1 | c.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) | |
10 | g.94298482C>T | CA211599649 | PLCE1 | c.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 |
10 | g.94298483T>A | CA377641876 | PLCE1 | c.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) | |
10 | g.94298483T>C | CA377641874 | PLCE1 | c.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) | |
10 | g.94298483T>G | CA377641875 | PLCE1 | c.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) | |
10 | g.94298484C>A | CA377641877 | PLCE1 | c.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) | |
10 | g.94298484C>G | CA377641878 | PLCE1 | c.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) | |
10 | g.94298484C>T | CA377641879 | PLCE1 | c.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 |
10 | g.94298485G>A | CA5613325 | PLCE1 | c.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 |
10 | g.94298485G>C | CA470986490 | PLCE1 | c.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 |