Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
10 | g.94298485G= | CA1928998411 | PLCE1 | c.4350G= (p.Ser1450=) c.*1817G= (n.*1817G=) n.2009G= n.693G= c.*558G= (n.*558G=) c.4302G= (p.Ser1434=) n.9482G= n.2947G= c.5142G= (p.Ser1714=) c.5226G= (p.Ser1742=) c.5274G= (p.Ser1758=) c.4248G= (p.Ser1416=) c.3829G= c.3390G= (p.Ser1130=) c.*1207G= (n.*1207G=) c.4543G= c.5316G= (p.Ser1772=) c.5313G= (p.Ser1771=) c.5268G= (p.Ser1756=) c.4392G= (p.Ser1464=) c.4161G= (p.Ser1387=) | |
10 | g.94298485G>T | CA470986488 | PLCE1 | c.4350G>T (p.Ser1450=) c.*1817G>T (n.*1817G>T) n.2009G>T n.693G>T c.*558G>T (n.*558G>T) c.4302G>T (p.Ser1434=) n.9482G>T n.2947G>T c.5142G>T (p.Ser1714=) c.5226G>T (p.Ser1742=) c.5274G>T (p.Ser1758=) c.4248G>T (p.Ser1416=) c.3829G>T c.3390G>T (p.Ser1130=) c.*1207G>T (n.*1207G>T) c.4543G>T c.5316G>T (p.Ser1772=) c.5313G>T (p.Ser1771=) c.5268G>T (p.Ser1756=) c.4392G>T (p.Ser1464=) c.4161G>T (p.Ser1387=) | |
10 | g.94298486T>A | CA377641880 | PLCE1 | c.4351T>A (p.Ser1451Thr) c.*1818T>A (n.*1818T>A) n.2010T>A n.694T>A c.*559T>A (n.*559T>A) c.4303T>A (p.Ser1435Thr) n.9483T>A n.2948T>A c.5143T>A (p.Ser1715Thr) c.5227T>A (p.Ser1743Thr) c.5275T>A (p.Ser1759Thr) c.4249T>A (p.Ser1417Thr) c.3830T>A c.3391T>A (p.Ser1131Thr) c.*1208T>A (n.*1208T>A) c.4544T>A c.5317T>A (p.Ser1773Thr) c.5314T>A (p.Ser1772Thr) c.5269T>A (p.Ser1757Thr) c.4393T>A (p.Ser1465Thr) c.4162T>A (p.Ser1388Thr) | |
10 | g.94298486T>C | CA377641881 | PLCE1 | c.4351T>C (p.Ser1451Pro) c.*1818T>C (n.*1818T>C) n.2010T>C n.694T>C c.*559T>C (n.*559T>C) c.4303T>C (p.Ser1435Pro) n.9483T>C n.2948T>C c.5143T>C (p.Ser1715Pro) c.5227T>C (p.Ser1743Pro) c.5275T>C (p.Ser1759Pro) c.4249T>C (p.Ser1417Pro) c.3830T>C c.3391T>C (p.Ser1131Pro) c.*1208T>C (n.*1208T>C) c.4544T>C c.5317T>C (p.Ser1773Pro) c.5314T>C (p.Ser1772Pro) c.5269T>C (p.Ser1757Pro) c.4393T>C (p.Ser1465Pro) c.4162T>C (p.Ser1388Pro) | |
10 | g.94298486T>G | CA377641882 | PLCE1 | c.4351T>G (p.Ser1451Ala) c.*1818T>G (n.*1818T>G) n.2010T>G n.694T>G c.*559T>G (n.*559T>G) c.4303T>G (p.Ser1435Ala) n.9483T>G n.2948T>G c.5143T>G (p.Ser1715Ala) c.5227T>G (p.Ser1743Ala) c.5275T>G (p.Ser1759Ala) c.4249T>G (p.Ser1417Ala) c.3830T>G c.3391T>G (p.Ser1131Ala) c.*1208T>G (n.*1208T>G) c.4544T>G c.5317T>G (p.Ser1773Ala) c.5314T>G (p.Ser1772Ala) c.5269T>G (p.Ser1757Ala) c.4393T>G (p.Ser1465Ala) c.4162T>G (p.Ser1388Ala) | |
10 | g.94298487C>A | CA377641883 | PLCE1 | c.4352C>A (p.Ser1451Ter) c.*1819C>A (n.*1819C>A) n.2011C>A n.695C>A c.*560C>A (n.*560C>A) c.4304C>A (p.Ser1435Ter) n.9484C>A n.2949C>A c.5144C>A (p.Ser1715Ter) c.5228C>A (p.Ser1743Ter) c.5276C>A (p.Ser1759Ter) c.4250C>A (p.Ser1417Ter) c.3831C>A c.3392C>A (p.Ser1131Ter) c.*1209C>A (n.*1209C>A) c.4545C>A c.5318C>A (p.Ser1773Ter) c.5315C>A (p.Ser1772Ter) c.5270C>A (p.Ser1757Ter) c.4394C>A (p.Ser1465Ter) c.4163C>A (p.Ser1388Ter) | |
10 | g.94298487C= | CA1928998412 | PLCE1 | c.4352C= (p.Ser1451=) c.*1819C= (n.*1819C=) n.2011C= n.695C= c.*560C= (n.*560C=) c.4304C= (p.Ser1435=) n.9484C= n.2949C= c.5144C= (p.Ser1715=) c.5228C= (p.Ser1743=) c.5276C= (p.Ser1759=) c.4250C= (p.Ser1417=) c.3831C= c.3392C= (p.Ser1131=) c.*1209C= (n.*1209C=) c.4545C= c.5318C= (p.Ser1773=) c.5315C= (p.Ser1772=) c.5270C= (p.Ser1757=) c.4394C= (p.Ser1465=) c.4163C= (p.Ser1388=) | |
10 | g.94298487C>G | CA377641884 | PLCE1 | c.4352C>G (p.Ser1451Trp) c.*1819C>G (n.*1819C>G) n.2011C>G n.695C>G c.*560C>G (n.*560C>G) c.4304C>G (p.Ser1435Trp) n.9484C>G n.2949C>G c.5144C>G (p.Ser1715Trp) c.5228C>G (p.Ser1743Trp) c.5276C>G (p.Ser1759Trp) c.4250C>G (p.Ser1417Trp) c.3831C>G c.3392C>G (p.Ser1131Trp) c.*1209C>G (n.*1209C>G) c.4545C>G c.5318C>G (p.Ser1773Trp) c.5315C>G (p.Ser1772Trp) c.5270C>G (p.Ser1757Trp) c.4394C>G (p.Ser1465Trp) c.4163C>G (p.Ser1388Trp) | |
10 | g.94298487C>T | CA5613326 | PLCE1 | c.4352C>T (p.Ser1451Leu) c.*1819C>T (n.*1819C>T) n.2011C>T n.695C>T c.*560C>T (n.*560C>T) c.4304C>T (p.Ser1435Leu) n.9484C>T n.2949C>T c.5144C>T (p.Ser1715Leu) c.5228C>T (p.Ser1743Leu) c.5276C>T (p.Ser1759Leu) c.4250C>T (p.Ser1417Leu) c.3831C>T c.3392C>T (p.Ser1131Leu) c.*1209C>T (n.*1209C>T) c.4545C>T c.5318C>T (p.Ser1773Leu) c.5315C>T (p.Ser1772Leu) c.5270C>T (p.Ser1757Leu) c.4394C>T (p.Ser1465Leu) c.4163C>T (p.Ser1388Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298488G>A | CA211599657 | PLCE1 | c.4353G>A (p.Ser1451=) c.*1820G>A (n.*1820G>A) n.2012G>A n.696G>A c.*561G>A (n.*561G>A) c.4305G>A (p.Ser1435=) n.9485G>A n.2950G>A c.5145G>A (p.Ser1715=) c.5229G>A (p.Ser1743=) c.5277G>A (p.Ser1759=) c.4251G>A (p.Ser1417=) c.3832G>A c.3393G>A (p.Ser1131=) c.*1210G>A (n.*1210G>A) c.4546G>A c.5319G>A (p.Ser1773=) c.5316G>A (p.Ser1772=) c.5271G>A (p.Ser1757=) c.4395G>A (p.Ser1465=) c.4164G>A (p.Ser1388=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298488G>C | CA470986494 | PLCE1 | c.4353G>C (p.Ser1451=) c.*1820G>C (n.*1820G>C) n.2012G>C n.696G>C c.*561G>C (n.*561G>C) c.4305G>C (p.Ser1435=) n.9485G>C n.2950G>C c.5145G>C (p.Ser1715=) c.5229G>C (p.Ser1743=) c.5277G>C (p.Ser1759=) c.4251G>C (p.Ser1417=) c.3832G>C c.3393G>C (p.Ser1131=) c.*1210G>C (n.*1210G>C) c.4546G>C c.5319G>C (p.Ser1773=) c.5316G>C (p.Ser1772=) c.5271G>C (p.Ser1757=) c.4395G>C (p.Ser1465=) c.4164G>C (p.Ser1388=) | |
10 | g.94298488G= | CA1928998413 | PLCE1 | c.4353G= (p.Ser1451=) c.*1820G= (n.*1820G=) n.2012G= n.696G= c.*561G= (n.*561G=) c.4305G= (p.Ser1435=) n.9485G= n.2950G= c.5145G= (p.Ser1715=) c.5229G= (p.Ser1743=) c.5277G= (p.Ser1759=) c.4251G= (p.Ser1417=) c.3832G= c.3393G= (p.Ser1131=) c.*1210G= (n.*1210G=) c.4546G= c.5319G= (p.Ser1773=) c.5316G= (p.Ser1772=) c.5271G= (p.Ser1757=) c.4395G= (p.Ser1465=) c.4164G= (p.Ser1388=) | |
10 | g.94298488G>T | CA470986493 | PLCE1 | c.4353G>T (p.Ser1451=) c.*1820G>T (n.*1820G>T) n.2012G>T n.696G>T c.*561G>T (n.*561G>T) c.4305G>T (p.Ser1435=) n.9485G>T n.2950G>T c.5145G>T (p.Ser1715=) c.5229G>T (p.Ser1743=) c.5277G>T (p.Ser1759=) c.4251G>T (p.Ser1417=) c.3832G>T c.3393G>T (p.Ser1131=) c.*1210G>T (n.*1210G>T) c.4546G>T c.5319G>T (p.Ser1773=) c.5316G>T (p.Ser1772=) c.5271G>T (p.Ser1757=) c.4395G>T (p.Ser1465=) c.4164G>T (p.Ser1388=) | |
10 | g.94298489C>A | CA377641885 | PLCE1 | c.4354C>A (p.Leu1452Met) c.*1821C>A (n.*1821C>A) n.2013C>A n.697C>A c.*562C>A (n.*562C>A) c.4306C>A (p.Leu1436Met) n.9486C>A n.2951C>A c.5146C>A (p.Leu1716Met) c.5230C>A (p.Leu1744Met) c.5278C>A (p.Leu1760Met) c.4252C>A (p.Leu1418Met) c.3833C>A c.3394C>A (p.Leu1132Met) c.*1211C>A (n.*1211C>A) c.4547C>A c.5320C>A (p.Leu1774Met) c.5317C>A (p.Leu1773Met) c.5272C>A (p.Leu1758Met) c.4396C>A (p.Leu1466Met) c.4165C>A (p.Leu1389Met) | |
10 | g.94298489C= | CA1928998414 | PLCE1 | c.4354C= (p.Leu1452=) c.*1821C= (n.*1821C=) n.2013C= n.697C= c.*562C= (n.*562C=) c.4306C= (p.Leu1436=) n.9486C= n.2951C= c.5146C= (p.Leu1716=) c.5230C= (p.Leu1744=) c.5278C= (p.Leu1760=) c.4252C= (p.Leu1418=) c.3833C= c.3394C= (p.Leu1132=) c.*1211C= (n.*1211C=) c.4547C= c.5320C= (p.Leu1774=) c.5317C= (p.Leu1773=) c.5272C= (p.Leu1758=) c.4396C= (p.Leu1466=) c.4165C= (p.Leu1389=) | |
10 | g.94298489C>G | CA377641886 | PLCE1 | c.4354C>G (p.Leu1452Val) c.*1821C>G (n.*1821C>G) n.2013C>G n.697C>G c.*562C>G (n.*562C>G) c.4306C>G (p.Leu1436Val) n.9486C>G n.2951C>G c.5146C>G (p.Leu1716Val) c.5230C>G (p.Leu1744Val) c.5278C>G (p.Leu1760Val) c.4252C>G (p.Leu1418Val) c.3833C>G c.3394C>G (p.Leu1132Val) c.*1211C>G (n.*1211C>G) c.4547C>G c.5320C>G (p.Leu1774Val) c.5317C>G (p.Leu1773Val) c.5272C>G (p.Leu1758Val) c.4396C>G (p.Leu1466Val) c.4165C>G (p.Leu1389Val) | |
10 | g.94298489C>T | CA5613327 | PLCE1 | c.4354C>T (p.Leu1452=) c.*1821C>T (n.*1821C>T) n.2013C>T n.697C>T c.*562C>T (n.*562C>T) c.4306C>T (p.Leu1436=) n.9486C>T n.2951C>T c.5146C>T (p.Leu1716=) c.5230C>T (p.Leu1744=) c.5278C>T (p.Leu1760=) c.4252C>T (p.Leu1418=) c.3833C>T c.3394C>T (p.Leu1132=) c.*1211C>T (n.*1211C>T) c.4547C>T c.5320C>T (p.Leu1774=) c.5317C>T (p.Leu1773=) c.5272C>T (p.Leu1758=) c.4396C>T (p.Leu1466=) c.4165C>T (p.Leu1389=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298490T>A | CA377641887 | PLCE1 | c.4355T>A (p.Leu1452Gln) c.*1822T>A (n.*1822T>A) n.2014T>A n.698T>A c.*563T>A (n.*563T>A) c.4307T>A (p.Leu1436Gln) n.9487T>A n.2952T>A c.5147T>A (p.Leu1716Gln) c.5231T>A (p.Leu1744Gln) c.5279T>A (p.Leu1760Gln) c.4253T>A (p.Leu1418Gln) c.3834T>A c.3395T>A (p.Leu1132Gln) c.*1212T>A (n.*1212T>A) c.4548T>A c.5321T>A (p.Leu1774Gln) c.5318T>A (p.Leu1773Gln) c.5273T>A (p.Leu1758Gln) c.4397T>A (p.Leu1466Gln) c.4166T>A (p.Leu1389Gln) | |
10 | g.94298490T>C | CA377641889 | PLCE1 | c.4355T>C (p.Leu1452Pro) c.*1822T>C (n.*1822T>C) n.2014T>C n.698T>C c.*563T>C (n.*563T>C) c.4307T>C (p.Leu1436Pro) n.9487T>C n.2952T>C c.5147T>C (p.Leu1716Pro) c.5231T>C (p.Leu1744Pro) c.5279T>C (p.Leu1760Pro) c.4253T>C (p.Leu1418Pro) c.3834T>C c.3395T>C (p.Leu1132Pro) c.*1212T>C (n.*1212T>C) c.4548T>C c.5321T>C (p.Leu1774Pro) c.5318T>C (p.Leu1773Pro) c.5273T>C (p.Leu1758Pro) c.4397T>C (p.Leu1466Pro) c.4166T>C (p.Leu1389Pro) | |
10 | g.94298490T>G | CA377641888 | PLCE1 | c.4355T>G (p.Leu1452Arg) c.*1822T>G (n.*1822T>G) n.2014T>G n.698T>G c.*563T>G (n.*563T>G) c.4307T>G (p.Leu1436Arg) n.9487T>G n.2952T>G c.5147T>G (p.Leu1716Arg) c.5231T>G (p.Leu1744Arg) c.5279T>G (p.Leu1760Arg) c.4253T>G (p.Leu1418Arg) c.3834T>G c.3395T>G (p.Leu1132Arg) c.*1212T>G (n.*1212T>G) c.4548T>G c.5321T>G (p.Leu1774Arg) c.5318T>G (p.Leu1773Arg) c.5273T>G (p.Leu1758Arg) c.4397T>G (p.Leu1466Arg) c.4166T>G (p.Leu1389Arg) | |
10 | g.94298491G>A | CA470986495 | PLCE1 | c.4356G>A (p.Leu1452=) c.*1823G>A (n.*1823G>A) n.2015G>A n.699G>A c.*564G>A (n.*564G>A) c.4308G>A (p.Leu1436=) n.9488G>A n.2953G>A c.5148G>A (p.Leu1716=) c.5232G>A (p.Leu1744=) c.5280G>A (p.Leu1760=) c.4254G>A (p.Leu1418=) c.3835G>A c.3396G>A (p.Leu1132=) c.*1213G>A (n.*1213G>A) c.4549G>A c.5322G>A (p.Leu1774=) c.5319G>A (p.Leu1773=) c.5274G>A (p.Leu1758=) c.4398G>A (p.Leu1466=) c.4167G>A (p.Leu1389=) | |
10 | g.94298491G>C | CA470986496 | PLCE1 | c.4356G>C (p.Leu1452=) c.*1823G>C (n.*1823G>C) n.2015G>C n.699G>C c.*564G>C (n.*564G>C) c.4308G>C (p.Leu1436=) n.9488G>C n.2953G>C c.5148G>C (p.Leu1716=) c.5232G>C (p.Leu1744=) c.5280G>C (p.Leu1760=) c.4254G>C (p.Leu1418=) c.3835G>C c.3396G>C (p.Leu1132=) c.*1213G>C (n.*1213G>C) c.4549G>C c.5322G>C (p.Leu1774=) c.5319G>C (p.Leu1773=) c.5274G>C (p.Leu1758=) c.4398G>C (p.Leu1466=) c.4167G>C (p.Leu1389=) | |
10 | g.94298491G>T | CA470986497 | PLCE1 | c.4356G>T (p.Leu1452=) c.*1823G>T (n.*1823G>T) n.2015G>T n.699G>T c.*564G>T (n.*564G>T) c.4308G>T (p.Leu1436=) n.9488G>T n.2953G>T c.5148G>T (p.Leu1716=) c.5232G>T (p.Leu1744=) c.5280G>T (p.Leu1760=) c.4254G>T (p.Leu1418=) c.3835G>T c.3396G>T (p.Leu1132=) c.*1213G>T (n.*1213G>T) c.4549G>T c.5322G>T (p.Leu1774=) c.5319G>T (p.Leu1773=) c.5274G>T (p.Leu1758=) c.4398G>T (p.Leu1466=) c.4167G>T (p.Leu1389=) | |
10 | g.94298492A>C | CA377641890 | PLCE1 | c.4357A>C (p.Asn1453His) c.*1824A>C (n.*1824A>C) n.2016A>C n.700A>C c.*565A>C (n.*565A>C) c.4309A>C (p.Asn1437His) n.9489A>C n.2954A>C c.5149A>C (p.Asn1717His) c.5233A>C (p.Asn1745His) c.5281A>C (p.Asn1761His) c.4255A>C (p.Asn1419His) c.3836A>C c.3397A>C (p.Asn1133His) c.*1214A>C (n.*1214A>C) c.4550A>C c.5323A>C (p.Asn1775His) c.5320A>C (p.Asn1774His) c.5275A>C (p.Asn1759His) c.4399A>C (p.Asn1467His) c.4168A>C (p.Asn1390His) | gnomAD v4 |
10 | g.94298492A>G | CA377641891 | PLCE1 | c.4357A>G (p.Asn1453Asp) c.*1824A>G (n.*1824A>G) n.2016A>G n.700A>G c.*565A>G (n.*565A>G) c.4309A>G (p.Asn1437Asp) n.9489A>G n.2954A>G c.5149A>G (p.Asn1717Asp) c.5233A>G (p.Asn1745Asp) c.5281A>G (p.Asn1761Asp) c.4255A>G (p.Asn1419Asp) c.3836A>G c.3397A>G (p.Asn1133Asp) c.*1214A>G (n.*1214A>G) c.4550A>G c.5323A>G (p.Asn1775Asp) c.5320A>G (p.Asn1774Asp) c.5275A>G (p.Asn1759Asp) c.4399A>G (p.Asn1467Asp) c.4168A>G (p.Asn1390Asp) | |
10 | g.94298492A>T | CA377641892 | PLCE1 | c.4357A>T (p.Asn1453Tyr) c.*1824A>T (n.*1824A>T) n.2016A>T n.700A>T c.*565A>T (n.*565A>T) c.4309A>T (p.Asn1437Tyr) n.9489A>T n.2954A>T c.5149A>T (p.Asn1717Tyr) c.5233A>T (p.Asn1745Tyr) c.5281A>T (p.Asn1761Tyr) c.4255A>T (p.Asn1419Tyr) c.3836A>T c.3397A>T (p.Asn1133Tyr) c.*1214A>T (n.*1214A>T) c.4550A>T c.5323A>T (p.Asn1775Tyr) c.5320A>T (p.Asn1774Tyr) c.5275A>T (p.Asn1759Tyr) c.4399A>T (p.Asn1467Tyr) c.4168A>T (p.Asn1390Tyr) | |
10 | g.94298493A>C | CA377641893 | PLCE1 | c.4358A>C (p.Asn1453Thr) c.*1825A>C (n.*1825A>C) n.2017A>C n.701A>C c.*566A>C (n.*566A>C) c.4310A>C (p.Asn1437Thr) n.9490A>C n.2955A>C c.5150A>C (p.Asn1717Thr) c.5234A>C (p.Asn1745Thr) c.5282A>C (p.Asn1761Thr) c.4256A>C (p.Asn1419Thr) c.3837A>C c.3398A>C (p.Asn1133Thr) c.*1215A>C (n.*1215A>C) c.4551A>C c.5324A>C (p.Asn1775Thr) c.5321A>C (p.Asn1774Thr) c.5276A>C (p.Asn1759Thr) c.4400A>C (p.Asn1467Thr) c.4169A>C (p.Asn1390Thr) | |
10 | g.94298493A>G | CA377641894 | PLCE1 | c.4358A>G (p.Asn1453Ser) c.*1825A>G (n.*1825A>G) n.2017A>G n.701A>G c.*566A>G (n.*566A>G) c.4310A>G (p.Asn1437Ser) n.9490A>G n.2955A>G c.5150A>G (p.Asn1717Ser) c.5234A>G (p.Asn1745Ser) c.5282A>G (p.Asn1761Ser) c.4256A>G (p.Asn1419Ser) c.3837A>G c.3398A>G (p.Asn1133Ser) c.*1215A>G (n.*1215A>G) c.4551A>G c.5324A>G (p.Asn1775Ser) c.5321A>G (p.Asn1774Ser) c.5276A>G (p.Asn1759Ser) c.4400A>G (p.Asn1467Ser) c.4169A>G (p.Asn1390Ser) | |
10 | g.94298493A>T | CA377641895 | PLCE1 | c.4358A>T (p.Asn1453Ile) c.*1825A>T (n.*1825A>T) n.2017A>T n.701A>T c.*566A>T (n.*566A>T) c.4310A>T (p.Asn1437Ile) n.9490A>T n.2955A>T c.5150A>T (p.Asn1717Ile) c.5234A>T (p.Asn1745Ile) c.5282A>T (p.Asn1761Ile) c.4256A>T (p.Asn1419Ile) c.3837A>T c.3398A>T (p.Asn1133Ile) c.*1215A>T (n.*1215A>T) c.4551A>T c.5324A>T (p.Asn1775Ile) c.5321A>T (p.Asn1774Ile) c.5276A>T (p.Asn1759Ile) c.4400A>T (p.Asn1467Ile) c.4169A>T (p.Asn1390Ile) | |
10 | g.94298494T>A | CA377641896 | PLCE1 | c.4359T>A (p.Asn1453Lys) c.*1826T>A (n.*1826T>A) n.2018T>A n.702T>A c.*567T>A (n.*567T>A) c.4311T>A (p.Asn1437Lys) n.9491T>A n.2956T>A c.5151T>A (p.Asn1717Lys) c.5235T>A (p.Asn1745Lys) c.5283T>A (p.Asn1761Lys) c.4257T>A (p.Asn1419Lys) c.3838T>A c.3399T>A (p.Asn1133Lys) c.*1216T>A (n.*1216T>A) c.4552T>A c.5325T>A (p.Asn1775Lys) c.5322T>A (p.Asn1774Lys) c.5277T>A (p.Asn1759Lys) c.4401T>A (p.Asn1467Lys) c.4170T>A (p.Asn1390Lys) | |
10 | g.94298494T>C | CA211599662 | PLCE1 | c.4359T>C (p.Asn1453=) c.*1826T>C (n.*1826T>C) n.2018T>C n.702T>C c.*567T>C (n.*567T>C) c.4311T>C (p.Asn1437=) n.9491T>C n.2956T>C c.5151T>C (p.Asn1717=) c.5235T>C (p.Asn1745=) c.5283T>C (p.Asn1761=) c.4257T>C (p.Asn1419=) c.3838T>C c.3399T>C (p.Asn1133=) c.*1216T>C (n.*1216T>C) c.4552T>C c.5325T>C (p.Asn1775=) c.5322T>C (p.Asn1774=) c.5277T>C (p.Asn1759=) c.4401T>C (p.Asn1467=) c.4170T>C (p.Asn1390=) | dbSNP |
10 | g.94298494T>G | CA377641897 | PLCE1 | c.4359T>G (p.Asn1453Lys) c.*1826T>G (n.*1826T>G) n.2018T>G n.702T>G c.*567T>G (n.*567T>G) c.4311T>G (p.Asn1437Lys) n.9491T>G n.2956T>G c.5151T>G (p.Asn1717Lys) c.5235T>G (p.Asn1745Lys) c.5283T>G (p.Asn1761Lys) c.4257T>G (p.Asn1419Lys) c.3838T>G c.3399T>G (p.Asn1133Lys) c.*1216T>G (n.*1216T>G) c.4552T>G c.5325T>G (p.Asn1775Lys) c.5322T>G (p.Asn1774Lys) c.5277T>G (p.Asn1759Lys) c.4401T>G (p.Asn1467Lys) c.4170T>G (p.Asn1390Lys) | |
10 | g.94298494T= | CA1928998415 | PLCE1 | c.4359T= (p.Asn1453=) c.*1826T= (n.*1826T=) n.2018T= n.702T= c.*567T= (n.*567T=) c.4311T= (p.Asn1437=) n.9491T= n.2956T= c.5151T= (p.Asn1717=) c.5235T= (p.Asn1745=) c.5283T= (p.Asn1761=) c.4257T= (p.Asn1419=) c.3838T= c.3399T= (p.Asn1133=) c.*1216T= (n.*1216T=) c.4552T= c.5325T= (p.Asn1775=) c.5322T= (p.Asn1774=) c.5277T= (p.Asn1759=) c.4401T= (p.Asn1467=) c.4170T= (p.Asn1390=) | |
10 | g.94298495G>A | CA377641898 | PLCE1 | c.4360G>A (p.Glu1454Lys) c.*1827G>A (n.*1827G>A) n.2019G>A n.703G>A c.*568G>A (n.*568G>A) c.4312G>A (p.Glu1438Lys) n.9492G>A n.2957G>A c.5152G>A (p.Glu1718Lys) c.5236G>A (p.Glu1746Lys) c.5284G>A (p.Glu1762Lys) c.4258G>A (p.Glu1420Lys) c.3839G>A c.3400G>A (p.Glu1134Lys) c.*1217G>A (n.*1217G>A) c.4553G>A c.5326G>A (p.Glu1776Lys) c.5323G>A (p.Glu1775Lys) c.5278G>A (p.Glu1760Lys) c.4402G>A (p.Glu1468Lys) c.4171G>A (p.Glu1391Lys) | |
10 | g.94298495G>C | CA377641899 | PLCE1 | c.4360G>C (p.Glu1454Gln) c.*1827G>C (n.*1827G>C) n.2019G>C n.703G>C c.*568G>C (n.*568G>C) c.4312G>C (p.Glu1438Gln) n.9492G>C n.2957G>C c.5152G>C (p.Glu1718Gln) c.5236G>C (p.Glu1746Gln) c.5284G>C (p.Glu1762Gln) c.4258G>C (p.Glu1420Gln) c.3839G>C c.3400G>C (p.Glu1134Gln) c.*1217G>C (n.*1217G>C) c.4553G>C c.5326G>C (p.Glu1776Gln) c.5323G>C (p.Glu1775Gln) c.5278G>C (p.Glu1760Gln) c.4402G>C (p.Glu1468Gln) c.4171G>C (p.Glu1391Gln) | |
10 | g.94298495G>T | CA377641900 | PLCE1 | c.4360G>T (p.Glu1454Ter) c.*1827G>T (n.*1827G>T) n.2019G>T n.703G>T c.*568G>T (n.*568G>T) c.4312G>T (p.Glu1438Ter) n.9492G>T n.2957G>T c.5152G>T (p.Glu1718Ter) c.5236G>T (p.Glu1746Ter) c.5284G>T (p.Glu1762Ter) c.4258G>T (p.Glu1420Ter) c.3839G>T c.3400G>T (p.Glu1134Ter) c.*1217G>T (n.*1217G>T) c.4553G>T c.5326G>T (p.Glu1776Ter) c.5323G>T (p.Glu1775Ter) c.5278G>T (p.Glu1760Ter) c.4402G>T (p.Glu1468Ter) c.4171G>T (p.Glu1391Ter) | |
10 | g.94298496A>C | CA377641903 | PLCE1 | c.4361A>C (p.Glu1454Ala) c.*1828A>C (n.*1828A>C) n.2020A>C n.704A>C c.*569A>C (n.*569A>C) c.4313A>C (p.Glu1438Ala) n.9493A>C n.2958A>C c.5153A>C (p.Glu1718Ala) c.5237A>C (p.Glu1746Ala) c.5285A>C (p.Glu1762Ala) c.4259A>C (p.Glu1420Ala) c.3840A>C c.3401A>C (p.Glu1134Ala) c.*1218A>C (n.*1218A>C) c.4554A>C c.5327A>C (p.Glu1776Ala) c.5324A>C (p.Glu1775Ala) c.5279A>C (p.Glu1760Ala) c.4403A>C (p.Glu1468Ala) c.4172A>C (p.Glu1391Ala) | |
10 | g.94298496A>G | CA377641901 | PLCE1 | c.4361A>G (p.Glu1454Gly) c.*1828A>G (n.*1828A>G) n.2020A>G n.704A>G c.*569A>G (n.*569A>G) c.4313A>G (p.Glu1438Gly) n.9493A>G n.2958A>G c.5153A>G (p.Glu1718Gly) c.5237A>G (p.Glu1746Gly) c.5285A>G (p.Glu1762Gly) c.4259A>G (p.Glu1420Gly) c.3840A>G c.3401A>G (p.Glu1134Gly) c.*1218A>G (n.*1218A>G) c.4554A>G c.5327A>G (p.Glu1776Gly) c.5324A>G (p.Glu1775Gly) c.5279A>G (p.Glu1760Gly) c.4403A>G (p.Glu1468Gly) c.4172A>G (p.Glu1391Gly) | |
10 | g.94298496A>T | CA377641902 | PLCE1 | c.4361A>T (p.Glu1454Val) c.*1828A>T (n.*1828A>T) n.2020A>T n.704A>T c.*569A>T (n.*569A>T) c.4313A>T (p.Glu1438Val) n.9493A>T n.2958A>T c.5153A>T (p.Glu1718Val) c.5237A>T (p.Glu1746Val) c.5285A>T (p.Glu1762Val) c.4259A>T (p.Glu1420Val) c.3840A>T c.3401A>T (p.Glu1134Val) c.*1218A>T (n.*1218A>T) c.4554A>T c.5327A>T (p.Glu1776Val) c.5324A>T (p.Glu1775Val) c.5279A>T (p.Glu1760Val) c.4403A>T (p.Glu1468Val) c.4172A>T (p.Glu1391Val) | |
10 | g.94298497A>C | CA377641904 | PLCE1 | c.4362A>C (p.Glu1454Asp) c.*1829A>C (n.*1829A>C) n.2021A>C n.705A>C c.*570A>C (n.*570A>C) c.4314A>C (p.Glu1438Asp) n.9494A>C n.2959A>C c.5154A>C (p.Glu1718Asp) c.5238A>C (p.Glu1746Asp) c.5286A>C (p.Glu1762Asp) c.4260A>C (p.Glu1420Asp) c.3841A>C c.3402A>C (p.Glu1134Asp) c.*1219A>C (n.*1219A>C) c.4555A>C c.5328A>C (p.Glu1776Asp) c.5325A>C (p.Glu1775Asp) c.5280A>C (p.Glu1760Asp) c.4404A>C (p.Glu1468Asp) c.4173A>C (p.Glu1391Asp) | |
10 | g.94298497A>G | CA470986502 | PLCE1 | c.4362A>G (p.Glu1454=) c.*1829A>G (n.*1829A>G) n.2021A>G n.705A>G c.*570A>G (n.*570A>G) c.4314A>G (p.Glu1438=) n.9494A>G n.2959A>G c.5154A>G (p.Glu1718=) c.5238A>G (p.Glu1746=) c.5286A>G (p.Glu1762=) c.4260A>G (p.Glu1420=) c.3841A>G c.3402A>G (p.Glu1134=) c.*1219A>G (n.*1219A>G) c.4555A>G c.5328A>G (p.Glu1776=) c.5325A>G (p.Glu1775=) c.5280A>G (p.Glu1760=) c.4404A>G (p.Glu1468=) c.4173A>G (p.Glu1391=) | |
10 | g.94298497A>T | CA377641905 | PLCE1 | c.4362A>T (p.Glu1454Asp) c.*1829A>T (n.*1829A>T) n.2021A>T n.705A>T c.*570A>T (n.*570A>T) c.4314A>T (p.Glu1438Asp) n.9494A>T n.2959A>T c.5154A>T (p.Glu1718Asp) c.5238A>T (p.Glu1746Asp) c.5286A>T (p.Glu1762Asp) c.4260A>T (p.Glu1420Asp) c.3841A>T c.3402A>T (p.Glu1134Asp) c.*1219A>T (n.*1219A>T) c.4555A>T c.5328A>T (p.Glu1776Asp) c.5325A>T (p.Glu1775Asp) c.5280A>T (p.Glu1760Asp) c.4404A>T (p.Glu1468Asp) c.4173A>T (p.Glu1391Asp) | |
10 | g.94298498A>C | CA377641906 | PLCE1 | c.4363A>C (p.Asn1455His) c.*1830A>C (n.*1830A>C) n.2022A>C n.706A>C c.*571A>C (n.*571A>C) c.4315A>C (p.Asn1439His) n.9495A>C n.2960A>C c.5155A>C (p.Asn1719His) c.5239A>C (p.Asn1747His) c.5287A>C (p.Asn1763His) c.4261A>C (p.Asn1421His) c.3842A>C c.3403A>C (p.Asn1135His) c.*1220A>C (n.*1220A>C) c.4556A>C c.5329A>C (p.Asn1777His) c.5326A>C (p.Asn1776His) c.5281A>C (p.Asn1761His) c.4405A>C (p.Asn1469His) c.4174A>C (p.Asn1392His) | |
10 | g.94298498A>G | CA377641907 | PLCE1 | c.4363A>G (p.Asn1455Asp) c.*1830A>G (n.*1830A>G) n.2022A>G n.706A>G c.*571A>G (n.*571A>G) c.4315A>G (p.Asn1439Asp) n.9495A>G n.2960A>G c.5155A>G (p.Asn1719Asp) c.5239A>G (p.Asn1747Asp) c.5287A>G (p.Asn1763Asp) c.4261A>G (p.Asn1421Asp) c.3842A>G c.3403A>G (p.Asn1135Asp) c.*1220A>G (n.*1220A>G) c.4556A>G c.5329A>G (p.Asn1777Asp) c.5326A>G (p.Asn1776Asp) c.5281A>G (p.Asn1761Asp) c.4405A>G (p.Asn1469Asp) c.4174A>G (p.Asn1392Asp) | |
10 | g.94298498A>T | CA377641908 | PLCE1 | c.4363A>T (p.Asn1455Tyr) c.*1830A>T (n.*1830A>T) n.2022A>T n.706A>T c.*571A>T (n.*571A>T) c.4315A>T (p.Asn1439Tyr) n.9495A>T n.2960A>T c.5155A>T (p.Asn1719Tyr) c.5239A>T (p.Asn1747Tyr) c.5287A>T (p.Asn1763Tyr) c.4261A>T (p.Asn1421Tyr) c.3842A>T c.3403A>T (p.Asn1135Tyr) c.*1220A>T (n.*1220A>T) c.4556A>T c.5329A>T (p.Asn1777Tyr) c.5326A>T (p.Asn1776Tyr) c.5281A>T (p.Asn1761Tyr) c.4405A>T (p.Asn1469Tyr) c.4174A>T (p.Asn1392Tyr) | |
10 | g.94298499A= | CA1928998416 | PLCE1 | c.4364A= (p.Asn1455=) c.*1831A= (n.*1831A=) n.2023A= n.707A= c.*572A= (n.*572A=) c.4316A= (p.Asn1439=) n.9496A= n.2961A= c.5156A= (p.Asn1719=) c.5240A= (p.Asn1747=) c.5288A= (p.Asn1763=) c.4262A= (p.Asn1421=) c.3843A= c.3404A= (p.Asn1135=) c.*1221A= (n.*1221A=) c.4557A= c.5330A= (p.Asn1777=) c.5327A= (p.Asn1776=) c.5282A= (p.Asn1761=) c.4406A= (p.Asn1469=) c.4175A= (p.Asn1392=) | |
10 | g.94298499A>C | CA377641909 | PLCE1 | c.4364A>C (p.Asn1455Thr) c.*1831A>C (n.*1831A>C) n.2023A>C n.707A>C c.*572A>C (n.*572A>C) c.4316A>C (p.Asn1439Thr) n.9496A>C n.2961A>C c.5156A>C (p.Asn1719Thr) c.5240A>C (p.Asn1747Thr) c.5288A>C (p.Asn1763Thr) c.4262A>C (p.Asn1421Thr) c.3843A>C c.3404A>C (p.Asn1135Thr) c.*1221A>C (n.*1221A>C) c.4557A>C c.5330A>C (p.Asn1777Thr) c.5327A>C (p.Asn1776Thr) c.5282A>C (p.Asn1761Thr) c.4406A>C (p.Asn1469Thr) c.4175A>C (p.Asn1392Thr) | |
10 | g.94298499A>G | CA377641910 | PLCE1 | c.4364A>G (p.Asn1455Ser) c.*1831A>G (n.*1831A>G) n.2023A>G n.707A>G c.*572A>G (n.*572A>G) c.4316A>G (p.Asn1439Ser) n.9496A>G n.2961A>G c.5156A>G (p.Asn1719Ser) c.5240A>G (p.Asn1747Ser) c.5288A>G (p.Asn1763Ser) c.4262A>G (p.Asn1421Ser) c.3843A>G c.3404A>G (p.Asn1135Ser) c.*1221A>G (n.*1221A>G) c.4557A>G c.5330A>G (p.Asn1777Ser) c.5327A>G (p.Asn1776Ser) c.5282A>G (p.Asn1761Ser) c.4406A>G (p.Asn1469Ser) c.4175A>G (p.Asn1392Ser) | |
10 | g.94298499A>T | CA377641911 | PLCE1 | c.4364A>T (p.Asn1455Ile) c.*1831A>T (n.*1831A>T) n.2023A>T n.707A>T c.*572A>T (n.*572A>T) c.4316A>T (p.Asn1439Ile) n.9496A>T n.2961A>T c.5156A>T (p.Asn1719Ile) c.5240A>T (p.Asn1747Ile) c.5288A>T (p.Asn1763Ile) c.4262A>T (p.Asn1421Ile) c.3843A>T c.3404A>T (p.Asn1135Ile) c.*1221A>T (n.*1221A>T) c.4557A>T c.5330A>T (p.Asn1777Ile) c.5327A>T (p.Asn1776Ile) c.5282A>T (p.Asn1761Ile) c.4406A>T (p.Asn1469Ile) c.4175A>T (p.Asn1392Ile) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298500T>A | CA377641912 | PLCE1 | c.4365T>A (p.Asn1455Lys) c.*1832T>A (n.*1832T>A) n.2024T>A n.708T>A c.*573T>A (n.*573T>A) c.4317T>A (p.Asn1439Lys) n.9497T>A n.2962T>A c.5157T>A (p.Asn1719Lys) c.5241T>A (p.Asn1747Lys) c.5289T>A (p.Asn1763Lys) c.4263T>A (p.Asn1421Lys) c.3844T>A c.3405T>A (p.Asn1135Lys) c.*1222T>A (n.*1222T>A) c.4558T>A c.5331T>A (p.Asn1777Lys) c.5328T>A (p.Asn1776Lys) c.5283T>A (p.Asn1761Lys) c.4407T>A (p.Asn1469Lys) c.4176T>A (p.Asn1392Lys) | |
10 | g.94298500T>C | CA470986507 | PLCE1 | c.4365T>C (p.Asn1455=) c.*1832T>C (n.*1832T>C) n.2024T>C n.708T>C c.*573T>C (n.*573T>C) c.4317T>C (p.Asn1439=) n.9497T>C n.2962T>C c.5157T>C (p.Asn1719=) c.5241T>C (p.Asn1747=) c.5289T>C (p.Asn1763=) c.4263T>C (p.Asn1421=) c.3844T>C c.3405T>C (p.Asn1135=) c.*1222T>C (n.*1222T>C) c.4558T>C c.5331T>C (p.Asn1777=) c.5328T>C (p.Asn1776=) c.5283T>C (p.Asn1761=) c.4407T>C (p.Asn1469=) c.4176T>C (p.Asn1392=) | |
10 | g.94298500T>G | CA377641913 | PLCE1 | c.4365T>G (p.Asn1455Lys) c.*1832T>G (n.*1832T>G) n.2024T>G n.708T>G c.*573T>G (n.*573T>G) c.4317T>G (p.Asn1439Lys) n.9497T>G n.2962T>G c.5157T>G (p.Asn1719Lys) c.5241T>G (p.Asn1747Lys) c.5289T>G (p.Asn1763Lys) c.4263T>G (p.Asn1421Lys) c.3844T>G c.3405T>G (p.Asn1135Lys) c.*1222T>G (n.*1222T>G) c.4558T>G c.5331T>G (p.Asn1777Lys) c.5328T>G (p.Asn1776Lys) c.5283T>G (p.Asn1761Lys) c.4407T>G (p.Asn1469Lys) c.4176T>G (p.Asn1392Lys) | |
10 | g.94298501G>A | CA377641915 | PLCE1 | c.4366G>A (p.Ala1456Thr) c.*1833G>A (n.*1833G>A) n.2025G>A n.709G>A c.*574G>A (n.*574G>A) c.4318G>A (p.Ala1440Thr) n.9498G>A n.2963G>A c.5158G>A (p.Ala1720Thr) c.5242G>A (p.Ala1748Thr) c.5290G>A (p.Ala1764Thr) c.4264G>A (p.Ala1422Thr) c.3845G>A c.3406G>A (p.Ala1136Thr) c.*1223G>A (n.*1223G>A) c.4559G>A c.5332G>A (p.Ala1778Thr) c.5329G>A (p.Ala1777Thr) c.5284G>A (p.Ala1762Thr) c.4408G>A (p.Ala1470Thr) c.4177G>A (p.Ala1393Thr) | |
10 | g.94298501G>C | CA377641914 | PLCE1 | c.4366G>C (p.Ala1456Pro) c.*1833G>C (n.*1833G>C) n.2025G>C n.709G>C c.*574G>C (n.*574G>C) c.4318G>C (p.Ala1440Pro) n.9498G>C n.2963G>C c.5158G>C (p.Ala1720Pro) c.5242G>C (p.Ala1748Pro) c.5290G>C (p.Ala1764Pro) c.4264G>C (p.Ala1422Pro) c.3845G>C c.3406G>C (p.Ala1136Pro) c.*1223G>C (n.*1223G>C) c.4559G>C c.5332G>C (p.Ala1778Pro) c.5329G>C (p.Ala1777Pro) c.5284G>C (p.Ala1762Pro) c.4408G>C (p.Ala1470Pro) c.4177G>C (p.Ala1393Pro) | |
10 | g.94298501G= | CA1928998417 | PLCE1 | c.4366G= (p.Ala1456=) c.*1833G= (n.*1833G=) n.2025G= n.709G= c.*574G= (n.*574G=) c.4318G= (p.Ala1440=) n.9498G= n.2963G= c.5158G= (p.Ala1720=) c.5242G= (p.Ala1748=) c.5290G= (p.Ala1764=) c.4264G= (p.Ala1422=) c.3845G= c.3406G= (p.Ala1136=) c.*1223G= (n.*1223G=) c.4559G= c.5332G= (p.Ala1778=) c.5329G= (p.Ala1777=) c.5284G= (p.Ala1762=) c.4408G= (p.Ala1470=) c.4177G= (p.Ala1393=) | |
10 | g.94298501G>T | CA5613328 | PLCE1 | c.4366G>T (p.Ala1456Ser) c.*1833G>T (n.*1833G>T) n.2025G>T n.709G>T c.*574G>T (n.*574G>T) c.4318G>T (p.Ala1440Ser) n.9498G>T n.2963G>T c.5158G>T (p.Ala1720Ser) c.5242G>T (p.Ala1748Ser) c.5290G>T (p.Ala1764Ser) c.4264G>T (p.Ala1422Ser) c.3845G>T c.3406G>T (p.Ala1136Ser) c.*1223G>T (n.*1223G>T) c.4559G>T c.5332G>T (p.Ala1778Ser) c.5329G>T (p.Ala1777Ser) c.5284G>T (p.Ala1762Ser) c.4408G>T (p.Ala1470Ser) c.4177G>T (p.Ala1393Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298502C>A | CA377641916 | PLCE1 | c.4367C>A (p.Ala1456Asp) c.*1834C>A (n.*1834C>A) n.2026C>A n.710C>A c.*575C>A (n.*575C>A) c.4319C>A (p.Ala1440Asp) n.9499C>A n.2964C>A c.5159C>A (p.Ala1720Asp) c.5243C>A (p.Ala1748Asp) c.5291C>A (p.Ala1764Asp) c.4265C>A (p.Ala1422Asp) c.3846C>A c.3407C>A (p.Ala1136Asp) c.*1224C>A (n.*1224C>A) c.4560C>A c.5333C>A (p.Ala1778Asp) c.5330C>A (p.Ala1777Asp) c.5285C>A (p.Ala1762Asp) c.4409C>A (p.Ala1470Asp) c.4178C>A (p.Ala1393Asp) | gnomAD v4 |
10 | g.94298502C>G | CA377641917 | PLCE1 | c.4367C>G (p.Ala1456Gly) c.*1834C>G (n.*1834C>G) n.2026C>G n.710C>G c.*575C>G (n.*575C>G) c.4319C>G (p.Ala1440Gly) n.9499C>G n.2964C>G c.5159C>G (p.Ala1720Gly) c.5243C>G (p.Ala1748Gly) c.5291C>G (p.Ala1764Gly) c.4265C>G (p.Ala1422Gly) c.3846C>G c.3407C>G (p.Ala1136Gly) c.*1224C>G (n.*1224C>G) c.4560C>G c.5333C>G (p.Ala1778Gly) c.5330C>G (p.Ala1777Gly) c.5285C>G (p.Ala1762Gly) c.4409C>G (p.Ala1470Gly) c.4178C>G (p.Ala1393Gly) | |
10 | g.94298502C>T | CA377641918 | PLCE1 | c.4367C>T (p.Ala1456Val) c.*1834C>T (n.*1834C>T) n.2026C>T n.710C>T c.*575C>T (n.*575C>T) c.4319C>T (p.Ala1440Val) n.9499C>T n.2964C>T c.5159C>T (p.Ala1720Val) c.5243C>T (p.Ala1748Val) c.5291C>T (p.Ala1764Val) c.4265C>T (p.Ala1422Val) c.3846C>T c.3407C>T (p.Ala1136Val) c.*1224C>T (n.*1224C>T) c.4560C>T c.5333C>T (p.Ala1778Val) c.5330C>T (p.Ala1777Val) c.5285C>T (p.Ala1762Val) c.4409C>T (p.Ala1470Val) c.4178C>T (p.Ala1393Val) | |
10 | g.94298502_94298503dup | CA2610239641 | PLCE1 | c.4367_4368dup (p.Ala1457ProfsTer13) c.*1834_*1835dup (n.*1834_*1835dup) n.2026_2027dup n.710_711dup c.*575_*576dup (n.*575_*576dup) c.4319_4320dup (p.Ala1441ProfsTer13) n.9499_9500dup n.2964_2965dup c.5159_5160dup (p.Ala1721ProfsTer13) c.5243_5244dup (p.Ala1749ProfsTer13) c.5291_5292dup (p.Ala1765ProfsTer13) c.4265_4266dup (p.Ala1423ProfsTer13) c.3846_3847dup c.3407_3408dup (p.Ala1137ProfsTer13) c.*1224_*1225dup (n.*1224_*1225dup) c.4560_4561dup c.5333_5334dup (p.Ala1779ProfsTer13) c.5330_5331dup (p.Ala1778ProfsTer13) c.5285_5286dup (p.Ala1763ProfsTer13) c.4409_4410dup (p.Ala1471ProfsTer13) c.4178_4179dup (p.Ala1394ProfsTer13) | gnomAD v4 |
10 | g.94298503C>A | CA5613329 | PLCE1 | c.4368C>A (p.Ala1456=) c.*1835C>A (n.*1835C>A) n.2027C>A n.711C>A c.*576C>A (n.*576C>A) c.4320C>A (p.Ala1440=) n.9500C>A n.2965C>A c.5160C>A (p.Ala1720=) c.5244C>A (p.Ala1748=) c.5292C>A (p.Ala1764=) c.4266C>A (p.Ala1422=) c.3847C>A c.3408C>A (p.Ala1136=) c.*1225C>A (n.*1225C>A) c.4561C>A c.5334C>A (p.Ala1778=) c.5331C>A (p.Ala1777=) c.5286C>A (p.Ala1762=) c.4410C>A (p.Ala1470=) c.4179C>A (p.Ala1393=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298503C= | CA1928998418 | PLCE1 | c.4368C= (p.Ala1456=) c.*1835C= (n.*1835C=) n.2027C= n.711C= c.*576C= (n.*576C=) c.4320C= (p.Ala1440=) n.9500C= n.2965C= c.5160C= (p.Ala1720=) c.5244C= (p.Ala1748=) c.5292C= (p.Ala1764=) c.4266C= (p.Ala1422=) c.3847C= c.3408C= (p.Ala1136=) c.*1225C= (n.*1225C=) c.4561C= c.5334C= (p.Ala1778=) c.5331C= (p.Ala1777=) c.5286C= (p.Ala1762=) c.4410C= (p.Ala1470=) c.4179C= (p.Ala1393=) | |
10 | g.94298503C>G | CA470986509 | PLCE1 | c.4368C>G (p.Ala1456=) c.*1835C>G (n.*1835C>G) n.2027C>G n.711C>G c.*576C>G (n.*576C>G) c.4320C>G (p.Ala1440=) n.9500C>G n.2965C>G c.5160C>G (p.Ala1720=) c.5244C>G (p.Ala1748=) c.5292C>G (p.Ala1764=) c.4266C>G (p.Ala1422=) c.3847C>G c.3408C>G (p.Ala1136=) c.*1225C>G (n.*1225C>G) c.4561C>G c.5334C>G (p.Ala1778=) c.5331C>G (p.Ala1777=) c.5286C>G (p.Ala1762=) c.4410C>G (p.Ala1470=) c.4179C>G (p.Ala1393=) | gnomAD v4 |
10 | g.94298503C>T | CA470986510 | PLCE1 | c.4368C>T (p.Ala1456=) c.*1835C>T (n.*1835C>T) n.2027C>T n.711C>T c.*576C>T (n.*576C>T) c.4320C>T (p.Ala1440=) n.9500C>T n.2965C>T c.5160C>T (p.Ala1720=) c.5244C>T (p.Ala1748=) c.5292C>T (p.Ala1764=) c.4266C>T (p.Ala1422=) c.3847C>T c.3408C>T (p.Ala1136=) c.*1225C>T (n.*1225C>T) c.4561C>T c.5334C>T (p.Ala1778=) c.5331C>T (p.Ala1777=) c.5286C>T (p.Ala1762=) c.4410C>T (p.Ala1470=) c.4179C>T (p.Ala1393=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298504G>A | CA5613330 | PLCE1 | c.4369G>A (p.Ala1457Thr) c.*1836G>A (n.*1836G>A) n.2028G>A n.712G>A c.*577G>A (n.*577G>A) c.4321G>A (p.Ala1441Thr) n.9501G>A n.2966G>A c.5161G>A (p.Ala1721Thr) c.5245G>A (p.Ala1749Thr) c.5293G>A (p.Ala1765Thr) c.4267G>A (p.Ala1423Thr) c.3848G>A c.3409G>A (p.Ala1137Thr) c.*1226G>A (n.*1226G>A) c.4562G>A c.5335G>A (p.Ala1779Thr) c.5332G>A (p.Ala1778Thr) c.5287G>A (p.Ala1763Thr) c.4411G>A (p.Ala1471Thr) c.4180G>A (p.Ala1394Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298504G>C | CA377641919 | PLCE1 | c.4369G>C (p.Ala1457Pro) c.*1836G>C (n.*1836G>C) n.2028G>C n.712G>C c.*577G>C (n.*577G>C) c.4321G>C (p.Ala1441Pro) n.9501G>C n.2966G>C c.5161G>C (p.Ala1721Pro) c.5245G>C (p.Ala1749Pro) c.5293G>C (p.Ala1765Pro) c.4267G>C (p.Ala1423Pro) c.3848G>C c.3409G>C (p.Ala1137Pro) c.*1226G>C (n.*1226G>C) c.4562G>C c.5335G>C (p.Ala1779Pro) c.5332G>C (p.Ala1778Pro) c.5287G>C (p.Ala1763Pro) c.4411G>C (p.Ala1471Pro) c.4180G>C (p.Ala1394Pro) | |
10 | g.94298504G= | CA1928998419 | PLCE1 | c.4369G= (p.Ala1457=) c.*1836G= (n.*1836G=) n.2028G= n.712G= c.*577G= (n.*577G=) c.4321G= (p.Ala1441=) n.9501G= n.2966G= c.5161G= (p.Ala1721=) c.5245G= (p.Ala1749=) c.5293G= (p.Ala1765=) c.4267G= (p.Ala1423=) c.3848G= c.3409G= (p.Ala1137=) c.*1226G= (n.*1226G=) c.4562G= c.5335G= (p.Ala1779=) c.5332G= (p.Ala1778=) c.5287G= (p.Ala1763=) c.4411G= (p.Ala1471=) c.4180G= (p.Ala1394=) | |
10 | g.94298504G>T | CA377641920 | PLCE1 | c.4369G>T (p.Ala1457Ser) c.*1836G>T (n.*1836G>T) n.2028G>T n.712G>T c.*577G>T (n.*577G>T) c.4321G>T (p.Ala1441Ser) n.9501G>T n.2966G>T c.5161G>T (p.Ala1721Ser) c.5245G>T (p.Ala1749Ser) c.5293G>T (p.Ala1765Ser) c.4267G>T (p.Ala1423Ser) c.3848G>T c.3409G>T (p.Ala1137Ser) c.*1226G>T (n.*1226G>T) c.4562G>T c.5335G>T (p.Ala1779Ser) c.5332G>T (p.Ala1778Ser) c.5287G>T (p.Ala1763Ser) c.4411G>T (p.Ala1471Ser) c.4180G>T (p.Ala1394Ser) | |
10 | g.94298505C>A | CA377641921 | PLCE1 | c.4370C>A (p.Ala1457Asp) c.*1837C>A (n.*1837C>A) n.2029C>A n.713C>A c.*578C>A (n.*578C>A) c.4322C>A (p.Ala1441Asp) n.9502C>A n.2967C>A c.5162C>A (p.Ala1721Asp) c.5246C>A (p.Ala1749Asp) c.5294C>A (p.Ala1765Asp) c.4268C>A (p.Ala1423Asp) c.3849C>A c.3410C>A (p.Ala1137Asp) c.*1227C>A (n.*1227C>A) c.4563C>A c.5336C>A (p.Ala1779Asp) c.5333C>A (p.Ala1778Asp) c.5288C>A (p.Ala1763Asp) c.4412C>A (p.Ala1471Asp) c.4181C>A (p.Ala1394Asp) | |
10 | g.94298505C>G | CA377641922 | PLCE1 | c.4370C>G (p.Ala1457Gly) c.*1837C>G (n.*1837C>G) n.2029C>G n.713C>G c.*578C>G (n.*578C>G) c.4322C>G (p.Ala1441Gly) n.9502C>G n.2967C>G c.5162C>G (p.Ala1721Gly) c.5246C>G (p.Ala1749Gly) c.5294C>G (p.Ala1765Gly) c.4268C>G (p.Ala1423Gly) c.3849C>G c.3410C>G (p.Ala1137Gly) c.*1227C>G (n.*1227C>G) c.4563C>G c.5336C>G (p.Ala1779Gly) c.5333C>G (p.Ala1778Gly) c.5288C>G (p.Ala1763Gly) c.4412C>G (p.Ala1471Gly) c.4181C>G (p.Ala1394Gly) | |
10 | g.94298505C>T | CA377641923 | PLCE1 | c.4370C>T (p.Ala1457Val) c.*1837C>T (n.*1837C>T) n.2029C>T n.713C>T c.*578C>T (n.*578C>T) c.4322C>T (p.Ala1441Val) n.9502C>T n.2967C>T c.5162C>T (p.Ala1721Val) c.5246C>T (p.Ala1749Val) c.5294C>T (p.Ala1765Val) c.4268C>T (p.Ala1423Val) c.3849C>T c.3410C>T (p.Ala1137Val) c.*1227C>T (n.*1227C>T) c.4563C>T c.5336C>T (p.Ala1779Val) c.5333C>T (p.Ala1778Val) c.5288C>T (p.Ala1763Val) c.4412C>T (p.Ala1471Val) c.4181C>T (p.Ala1394Val) | |
10 | g.94298506C>A | CA470986513 | PLCE1 | c.4371C>A (p.Ala1457=) c.*1838C>A (n.*1838C>A) n.2030C>A n.714C>A c.*579C>A (n.*579C>A) c.4323C>A (p.Ala1441=) n.9503C>A n.2968C>A c.5163C>A (p.Ala1721=) c.5247C>A (p.Ala1749=) c.5295C>A (p.Ala1765=) c.4269C>A (p.Ala1423=) c.3850C>A c.3411C>A (p.Ala1137=) c.*1228C>A (n.*1228C>A) c.4564C>A c.5337C>A (p.Ala1779=) c.5334C>A (p.Ala1778=) c.5289C>A (p.Ala1763=) c.4413C>A (p.Ala1471=) c.4182C>A (p.Ala1394=) | |
10 | g.94298506C>G | CA470986514 | PLCE1 | c.4371C>G (p.Ala1457=) c.*1838C>G (n.*1838C>G) n.2030C>G n.714C>G c.*579C>G (n.*579C>G) c.4323C>G (p.Ala1441=) n.9503C>G n.2968C>G c.5163C>G (p.Ala1721=) c.5247C>G (p.Ala1749=) c.5295C>G (p.Ala1765=) c.4269C>G (p.Ala1423=) c.3850C>G c.3411C>G (p.Ala1137=) c.*1228C>G (n.*1228C>G) c.4564C>G c.5337C>G (p.Ala1779=) c.5334C>G (p.Ala1778=) c.5289C>G (p.Ala1763=) c.4413C>G (p.Ala1471=) c.4182C>G (p.Ala1394=) | |
10 | g.94298506C>T | CA470986515 | PLCE1 | c.4371C>T (p.Ala1457=) c.*1838C>T (n.*1838C>T) n.2030C>T n.714C>T c.*579C>T (n.*579C>T) c.4323C>T (p.Ala1441=) n.9503C>T n.2968C>T c.5163C>T (p.Ala1721=) c.5247C>T (p.Ala1749=) c.5295C>T (p.Ala1765=) c.4269C>T (p.Ala1423=) c.3850C>T c.3411C>T (p.Ala1137=) c.*1228C>T (n.*1228C>T) c.4564C>T c.5337C>T (p.Ala1779=) c.5334C>T (p.Ala1778=) c.5289C>T (p.Ala1763=) c.4413C>T (p.Ala1471=) c.4182C>T (p.Ala1394=) | gnomAD v4 |
10 | g.94298507A>C | CA377641924 | PLCE1 | c.4372A>C (p.Lys1458Gln) c.*1839A>C (n.*1839A>C) n.2031A>C n.715A>C c.*580A>C (n.*580A>C) c.4324A>C (p.Lys1442Gln) n.9504A>C n.2969A>C c.5164A>C (p.Lys1722Gln) c.5248A>C (p.Lys1750Gln) c.5296A>C (p.Lys1766Gln) c.4270A>C (p.Lys1424Gln) c.3851A>C c.3412A>C (p.Lys1138Gln) c.*1229A>C (n.*1229A>C) c.4565A>C c.5338A>C (p.Lys1780Gln) c.5335A>C (p.Lys1779Gln) c.5290A>C (p.Lys1764Gln) c.4414A>C (p.Lys1472Gln) c.4183A>C (p.Lys1395Gln) | |
10 | g.94298507A>G | CA377641925 | PLCE1 | c.4372A>G (p.Lys1458Glu) c.*1839A>G (n.*1839A>G) n.2031A>G n.715A>G c.*580A>G (n.*580A>G) c.4324A>G (p.Lys1442Glu) n.9504A>G n.2969A>G c.5164A>G (p.Lys1722Glu) c.5248A>G (p.Lys1750Glu) c.5296A>G (p.Lys1766Glu) c.4270A>G (p.Lys1424Glu) c.3851A>G c.3412A>G (p.Lys1138Glu) c.*1229A>G (n.*1229A>G) c.4565A>G c.5338A>G (p.Lys1780Glu) c.5335A>G (p.Lys1779Glu) c.5290A>G (p.Lys1764Glu) c.4414A>G (p.Lys1472Glu) c.4183A>G (p.Lys1395Glu) | |
10 | g.94298507A>T | CA377641926 | PLCE1 | c.4372A>T (p.Lys1458Ter) c.*1839A>T (n.*1839A>T) n.2031A>T n.715A>T c.*580A>T (n.*580A>T) c.4324A>T (p.Lys1442Ter) n.9504A>T n.2969A>T c.5164A>T (p.Lys1722Ter) c.5248A>T (p.Lys1750Ter) c.5296A>T (p.Lys1766Ter) c.4270A>T (p.Lys1424Ter) c.3851A>T c.3412A>T (p.Lys1138Ter) c.*1229A>T (n.*1229A>T) c.4565A>T c.5338A>T (p.Lys1780Ter) c.5335A>T (p.Lys1779Ter) c.5290A>T (p.Lys1764Ter) c.4414A>T (p.Lys1472Ter) c.4183A>T (p.Lys1395Ter) | |
10 | g.94298508A>C | CA377641927 | PLCE1 | c.4373A>C (p.Lys1458Thr) c.*1840A>C (n.*1840A>C) n.2032A>C n.716A>C c.*581A>C (n.*581A>C) c.4325A>C (p.Lys1442Thr) n.9505A>C n.2970A>C c.5165A>C (p.Lys1722Thr) c.5249A>C (p.Lys1750Thr) c.5297A>C (p.Lys1766Thr) c.4271A>C (p.Lys1424Thr) c.3852A>C c.3413A>C (p.Lys1138Thr) c.*1230A>C (n.*1230A>C) c.4566A>C c.5339A>C (p.Lys1780Thr) c.5336A>C (p.Lys1779Thr) c.5291A>C (p.Lys1764Thr) c.4415A>C (p.Lys1472Thr) c.4184A>C (p.Lys1395Thr) | |
10 | g.94298508A>G | CA377641929 | PLCE1 | c.4373A>G (p.Lys1458Arg) c.*1840A>G (n.*1840A>G) n.2032A>G n.716A>G c.*581A>G (n.*581A>G) c.4325A>G (p.Lys1442Arg) n.9505A>G n.2970A>G c.5165A>G (p.Lys1722Arg) c.5249A>G (p.Lys1750Arg) c.5297A>G (p.Lys1766Arg) c.4271A>G (p.Lys1424Arg) c.3852A>G c.3413A>G (p.Lys1138Arg) c.*1230A>G (n.*1230A>G) c.4566A>G c.5339A>G (p.Lys1780Arg) c.5336A>G (p.Lys1779Arg) c.5291A>G (p.Lys1764Arg) c.4415A>G (p.Lys1472Arg) c.4184A>G (p.Lys1395Arg) | |
10 | g.94298508A>T | CA377641928 | PLCE1 | c.4373A>T (p.Lys1458Ile) c.*1840A>T (n.*1840A>T) n.2032A>T n.716A>T c.*581A>T (n.*581A>T) c.4325A>T (p.Lys1442Ile) n.9505A>T n.2970A>T c.5165A>T (p.Lys1722Ile) c.5249A>T (p.Lys1750Ile) c.5297A>T (p.Lys1766Ile) c.4271A>T (p.Lys1424Ile) c.3852A>T c.3413A>T (p.Lys1138Ile) c.*1230A>T (n.*1230A>T) c.4566A>T c.5339A>T (p.Lys1780Ile) c.5336A>T (p.Lys1779Ile) c.5291A>T (p.Lys1764Ile) c.4415A>T (p.Lys1472Ile) c.4184A>T (p.Lys1395Ile) | |
10 | g.94298509A>C | CA377641930 | PLCE1 | c.4374A>C (p.Lys1458Asn) c.*1841A>C (n.*1841A>C) n.2033A>C n.717A>C c.*582A>C (n.*582A>C) c.4326A>C (p.Lys1442Asn) n.9506A>C n.2971A>C c.5166A>C (p.Lys1722Asn) c.5250A>C (p.Lys1750Asn) c.5298A>C (p.Lys1766Asn) c.4272A>C (p.Lys1424Asn) c.3853A>C c.3414A>C (p.Lys1138Asn) c.*1231A>C (n.*1231A>C) c.4567A>C c.5340A>C (p.Lys1780Asn) c.5337A>C (p.Lys1779Asn) c.5292A>C (p.Lys1764Asn) c.4416A>C (p.Lys1472Asn) c.4185A>C (p.Lys1395Asn) | |
10 | g.94298509A>G | CA470986519 | PLCE1 | c.4374A>G (p.Lys1458=) c.*1841A>G (n.*1841A>G) n.2033A>G n.717A>G c.*582A>G (n.*582A>G) c.4326A>G (p.Lys1442=) n.9506A>G n.2971A>G c.5166A>G (p.Lys1722=) c.5250A>G (p.Lys1750=) c.5298A>G (p.Lys1766=) c.4272A>G (p.Lys1424=) c.3853A>G c.3414A>G (p.Lys1138=) c.*1231A>G (n.*1231A>G) c.4567A>G c.5340A>G (p.Lys1780=) c.5337A>G (p.Lys1779=) c.5292A>G (p.Lys1764=) c.4416A>G (p.Lys1472=) c.4185A>G (p.Lys1395=) | |
10 | g.94298509A>T | CA377641931 | PLCE1 | c.4374A>T (p.Lys1458Asn) c.*1841A>T (n.*1841A>T) n.2033A>T n.717A>T c.*582A>T (n.*582A>T) c.4326A>T (p.Lys1442Asn) n.9506A>T n.2971A>T c.5166A>T (p.Lys1722Asn) c.5250A>T (p.Lys1750Asn) c.5298A>T (p.Lys1766Asn) c.4272A>T (p.Lys1424Asn) c.3853A>T c.3414A>T (p.Lys1138Asn) c.*1231A>T (n.*1231A>T) c.4567A>T c.5340A>T (p.Lys1780Asn) c.5337A>T (p.Lys1779Asn) c.5292A>T (p.Lys1764Asn) c.4416A>T (p.Lys1472Asn) c.4185A>T (p.Lys1395Asn) | |
10 | g.94298510C>A | CA377641932 | PLCE1 | c.4375C>A (p.Arg1459Ser) c.*1842C>A (n.*1842C>A) n.2034C>A n.718C>A c.*583C>A (n.*583C>A) c.4327C>A (p.Arg1443Ser) n.9507C>A n.2972C>A c.5167C>A (p.Arg1723Ser) c.5251C>A (p.Arg1751Ser) c.5299C>A (p.Arg1767Ser) c.4273C>A (p.Arg1425Ser) c.3854C>A c.3415C>A (p.Arg1139Ser) c.*1232C>A (n.*1232C>A) c.4568C>A c.5341C>A (p.Arg1781Ser) c.5338C>A (p.Arg1780Ser) c.5293C>A (p.Arg1765Ser) c.4417C>A (p.Arg1473Ser) c.4186C>A (p.Arg1396Ser) | |
10 | g.94298510C>G | CA377641933 | PLCE1 | c.4375C>G (p.Arg1459Gly) c.*1842C>G (n.*1842C>G) n.2034C>G n.718C>G c.*583C>G (n.*583C>G) c.4327C>G (p.Arg1443Gly) n.9507C>G n.2972C>G c.5167C>G (p.Arg1723Gly) c.5251C>G (p.Arg1751Gly) c.5299C>G (p.Arg1767Gly) c.4273C>G (p.Arg1425Gly) c.3854C>G c.3415C>G (p.Arg1139Gly) c.*1232C>G (n.*1232C>G) c.4568C>G c.5341C>G (p.Arg1781Gly) c.5338C>G (p.Arg1780Gly) c.5293C>G (p.Arg1765Gly) c.4417C>G (p.Arg1473Gly) c.4186C>G (p.Arg1396Gly) | |
10 | g.94298510C>T | CA377641934 | PLCE1 | c.4375C>T (p.Arg1459Cys) c.*1842C>T (n.*1842C>T) n.2034C>T n.718C>T c.*583C>T (n.*583C>T) c.4327C>T (p.Arg1443Cys) n.9507C>T n.2972C>T c.5167C>T (p.Arg1723Cys) c.5251C>T (p.Arg1751Cys) c.5299C>T (p.Arg1767Cys) c.4273C>T (p.Arg1425Cys) c.3854C>T c.3415C>T (p.Arg1139Cys) c.*1232C>T (n.*1232C>T) c.4568C>T c.5341C>T (p.Arg1781Cys) c.5338C>T (p.Arg1780Cys) c.5293C>T (p.Arg1765Cys) c.4417C>T (p.Arg1473Cys) c.4186C>T (p.Arg1396Cys) | dbSNP gnomAD v4 |
10 | g.94298511G>A | CA5613331 | PLCE1 | c.4376G>A (p.Arg1459His) c.*1843G>A (n.*1843G>A) n.2035G>A n.719G>A c.*584G>A (n.*584G>A) c.4328G>A (p.Arg1443His) n.9508G>A n.2973G>A c.5168G>A (p.Arg1723His) c.5252G>A (p.Arg1751His) c.5300G>A (p.Arg1767His) c.4274G>A (p.Arg1425His) c.3855G>A c.3416G>A (p.Arg1139His) c.*1233G>A (n.*1233G>A) c.4569G>A c.5342G>A (p.Arg1781His) c.5339G>A (p.Arg1780His) c.5294G>A (p.Arg1765His) c.4418G>A (p.Arg1473His) c.4187G>A (p.Arg1396His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298511G>C | CA377641935 | PLCE1 | c.4376G>C (p.Arg1459Pro) c.*1843G>C (n.*1843G>C) n.2035G>C n.719G>C c.*584G>C (n.*584G>C) c.4328G>C (p.Arg1443Pro) n.9508G>C n.2973G>C c.5168G>C (p.Arg1723Pro) c.5252G>C (p.Arg1751Pro) c.5300G>C (p.Arg1767Pro) c.4274G>C (p.Arg1425Pro) c.3855G>C c.3416G>C (p.Arg1139Pro) c.*1233G>C (n.*1233G>C) c.4569G>C c.5342G>C (p.Arg1781Pro) c.5339G>C (p.Arg1780Pro) c.5294G>C (p.Arg1765Pro) c.4418G>C (p.Arg1473Pro) c.4187G>C (p.Arg1396Pro) | |
10 | g.94298511G= | CA1928998420 | PLCE1 | c.4376G= (p.Arg1459=) c.*1843G= (n.*1843G=) n.2035G= n.719G= c.*584G= (n.*584G=) c.4328G= (p.Arg1443=) n.9508G= n.2973G= c.5168G= (p.Arg1723=) c.5252G= (p.Arg1751=) c.5300G= (p.Arg1767=) c.4274G= (p.Arg1425=) c.3855G= c.3416G= (p.Arg1139=) c.*1233G= (n.*1233G=) c.4569G= c.5342G= (p.Arg1781=) c.5339G= (p.Arg1780=) c.5294G= (p.Arg1765=) c.4418G= (p.Arg1473=) c.4187G= (p.Arg1396=) | |
10 | g.94298511G>T | CA377641936 | PLCE1 | c.4376G>T (p.Arg1459Leu) c.*1843G>T (n.*1843G>T) n.2035G>T n.719G>T c.*584G>T (n.*584G>T) c.4328G>T (p.Arg1443Leu) n.9508G>T n.2973G>T c.5168G>T (p.Arg1723Leu) c.5252G>T (p.Arg1751Leu) c.5300G>T (p.Arg1767Leu) c.4274G>T (p.Arg1425Leu) c.3855G>T c.3416G>T (p.Arg1139Leu) c.*1233G>T (n.*1233G>T) c.4569G>T c.5342G>T (p.Arg1781Leu) c.5339G>T (p.Arg1780Leu) c.5294G>T (p.Arg1765Leu) c.4418G>T (p.Arg1473Leu) c.4187G>T (p.Arg1396Leu) | gnomAD v4 |
10 | g.94298512T>A | CA5613332 | PLCE1 | c.4377T>A (p.Arg1459=) c.*1844T>A (n.*1844T>A) n.2036T>A n.720T>A c.*585T>A (n.*585T>A) c.4329T>A (p.Arg1443=) n.9509T>A n.2974T>A c.5169T>A (p.Arg1723=) c.5253T>A (p.Arg1751=) c.5301T>A (p.Arg1767=) c.4275T>A (p.Arg1425=) c.3856T>A c.3417T>A (p.Arg1139=) c.*1234T>A (n.*1234T>A) c.4570T>A c.5343T>A (p.Arg1781=) c.5340T>A (p.Arg1780=) c.5295T>A (p.Arg1765=) c.4419T>A (p.Arg1473=) c.4188T>A (p.Arg1396=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298512T>C | CA470986521 | PLCE1 | c.4377T>C (p.Arg1459=) c.*1844T>C (n.*1844T>C) n.2036T>C n.720T>C c.*585T>C (n.*585T>C) c.4329T>C (p.Arg1443=) n.9509T>C n.2974T>C c.5169T>C (p.Arg1723=) c.5253T>C (p.Arg1751=) c.5301T>C (p.Arg1767=) c.4275T>C (p.Arg1425=) c.3856T>C c.3417T>C (p.Arg1139=) c.*1234T>C (n.*1234T>C) c.4570T>C c.5343T>C (p.Arg1781=) c.5340T>C (p.Arg1780=) c.5295T>C (p.Arg1765=) c.4419T>C (p.Arg1473=) c.4188T>C (p.Arg1396=) | |
10 | g.94298512T>G | CA470986522 | PLCE1 | c.4377T>G (p.Arg1459=) c.*1844T>G (n.*1844T>G) n.2036T>G n.720T>G c.*585T>G (n.*585T>G) c.4329T>G (p.Arg1443=) n.9509T>G n.2974T>G c.5169T>G (p.Arg1723=) c.5253T>G (p.Arg1751=) c.5301T>G (p.Arg1767=) c.4275T>G (p.Arg1425=) c.3856T>G c.3417T>G (p.Arg1139=) c.*1234T>G (n.*1234T>G) c.4570T>G c.5343T>G (p.Arg1781=) c.5340T>G (p.Arg1780=) c.5295T>G (p.Arg1765=) c.4419T>G (p.Arg1473=) c.4188T>G (p.Arg1396=) | |
10 | g.94298512T= | CA1928998421 | PLCE1 | c.4377T= (p.Arg1459=) c.*1844T= (n.*1844T=) n.2036T= n.720T= c.*585T= (n.*585T=) c.4329T= (p.Arg1443=) n.9509T= n.2974T= c.5169T= (p.Arg1723=) c.5253T= (p.Arg1751=) c.5301T= (p.Arg1767=) c.4275T= (p.Arg1425=) c.3856T= c.3417T= (p.Arg1139=) c.*1234T= (n.*1234T=) c.4570T= c.5343T= (p.Arg1781=) c.5340T= (p.Arg1780=) c.5295T= (p.Arg1765=) c.4419T= (p.Arg1473=) c.4188T= (p.Arg1396=) | |
10 | g.94298513C>A | CA377641937 | PLCE1 | c.4378C>A (p.Leu1460Met) c.*1845C>A (n.*1845C>A) n.2037C>A n.721C>A c.*586C>A (n.*586C>A) c.4330C>A (p.Leu1444Met) n.9510C>A n.2975C>A c.5170C>A (p.Leu1724Met) c.5254C>A (p.Leu1752Met) c.5302C>A (p.Leu1768Met) c.4276C>A (p.Leu1426Met) c.3857C>A c.3418C>A (p.Leu1140Met) c.*1235C>A (n.*1235C>A) c.4571C>A c.5344C>A (p.Leu1782Met) c.5341C>A (p.Leu1781Met) c.5296C>A (p.Leu1766Met) c.4420C>A (p.Leu1474Met) c.4189C>A (p.Leu1397Met) | |
10 | g.94298513C>G | CA377641938 | PLCE1 | c.4378C>G (p.Leu1460Val) c.*1845C>G (n.*1845C>G) n.2037C>G n.721C>G c.*586C>G (n.*586C>G) c.4330C>G (p.Leu1444Val) n.9510C>G n.2975C>G c.5170C>G (p.Leu1724Val) c.5254C>G (p.Leu1752Val) c.5302C>G (p.Leu1768Val) c.4276C>G (p.Leu1426Val) c.3857C>G c.3418C>G (p.Leu1140Val) c.*1235C>G (n.*1235C>G) c.4571C>G c.5344C>G (p.Leu1782Val) c.5341C>G (p.Leu1781Val) c.5296C>G (p.Leu1766Val) c.4420C>G (p.Leu1474Val) c.4189C>G (p.Leu1397Val) | gnomAD v4 |
10 | g.94298513C>T | CA470986523 | PLCE1 | c.4378C>T (p.Leu1460=) c.*1845C>T (n.*1845C>T) n.2037C>T n.721C>T c.*586C>T (n.*586C>T) c.4330C>T (p.Leu1444=) n.9510C>T n.2975C>T c.5170C>T (p.Leu1724=) c.5254C>T (p.Leu1752=) c.5302C>T (p.Leu1768=) c.4276C>T (p.Leu1426=) c.3857C>T c.3418C>T (p.Leu1140=) c.*1235C>T (n.*1235C>T) c.4571C>T c.5344C>T (p.Leu1782=) c.5341C>T (p.Leu1781=) c.5296C>T (p.Leu1766=) c.4420C>T (p.Leu1474=) c.4189C>T (p.Leu1397=) | gnomAD v4 |
10 | g.94298514T>A | CA377641940 | PLCE1 | c.4379T>A (p.Leu1460Gln) c.*1846T>A (n.*1846T>A) n.2038T>A n.722T>A c.*587T>A (n.*587T>A) c.4331T>A (p.Leu1444Gln) n.9511T>A n.2976T>A c.5171T>A (p.Leu1724Gln) c.5255T>A (p.Leu1752Gln) c.5303T>A (p.Leu1768Gln) c.4277T>A (p.Leu1426Gln) c.3858T>A c.3419T>A (p.Leu1140Gln) c.*1236T>A (n.*1236T>A) c.4572T>A c.5345T>A (p.Leu1782Gln) c.5342T>A (p.Leu1781Gln) c.5297T>A (p.Leu1766Gln) c.4421T>A (p.Leu1474Gln) c.4190T>A (p.Leu1397Gln) | |
10 | g.94298514T>C | CA377641941 | PLCE1 | c.4379T>C (p.Leu1460Pro) c.*1846T>C (n.*1846T>C) n.2038T>C n.722T>C c.*587T>C (n.*587T>C) c.4331T>C (p.Leu1444Pro) n.9511T>C n.2976T>C c.5171T>C (p.Leu1724Pro) c.5255T>C (p.Leu1752Pro) c.5303T>C (p.Leu1768Pro) c.4277T>C (p.Leu1426Pro) c.3858T>C c.3419T>C (p.Leu1140Pro) c.*1236T>C (n.*1236T>C) c.4572T>C c.5345T>C (p.Leu1782Pro) c.5342T>C (p.Leu1781Pro) c.5297T>C (p.Leu1766Pro) c.4421T>C (p.Leu1474Pro) c.4190T>C (p.Leu1397Pro) | |
10 | g.94298514T>G | CA377641939 | PLCE1 | c.4379T>G (p.Leu1460Arg) c.*1846T>G (n.*1846T>G) n.2038T>G n.722T>G c.*587T>G (n.*587T>G) c.4331T>G (p.Leu1444Arg) n.9511T>G n.2976T>G c.5171T>G (p.Leu1724Arg) c.5255T>G (p.Leu1752Arg) c.5303T>G (p.Leu1768Arg) c.4277T>G (p.Leu1426Arg) c.3858T>G c.3419T>G (p.Leu1140Arg) c.*1236T>G (n.*1236T>G) c.4572T>G c.5345T>G (p.Leu1782Arg) c.5342T>G (p.Leu1781Arg) c.5297T>G (p.Leu1766Arg) c.4421T>G (p.Leu1474Arg) c.4190T>G (p.Leu1397Arg) | |
10 | g.94298515G>A | CA470986525 | PLCE1 | c.4380G>A (p.Leu1460=) c.*1847G>A (n.*1847G>A) n.2039G>A n.723G>A c.*588G>A (n.*588G>A) c.4332G>A (p.Leu1444=) n.9512G>A n.2977G>A c.5172G>A (p.Leu1724=) c.5256G>A (p.Leu1752=) c.5304G>A (p.Leu1768=) c.4278G>A (p.Leu1426=) c.3859G>A c.3420G>A (p.Leu1140=) c.*1237G>A (n.*1237G>A) c.4573G>A c.5346G>A (p.Leu1782=) c.5343G>A (p.Leu1781=) c.5298G>A (p.Leu1766=) c.4422G>A (p.Leu1474=) c.4191G>A (p.Leu1397=) | gnomAD v4 |
10 | g.94298515G>C | CA5613333 | PLCE1 | c.4380G>C (p.Leu1460=) c.*1847G>C (n.*1847G>C) n.2039G>C n.723G>C c.*588G>C (n.*588G>C) c.4332G>C (p.Leu1444=) n.9512G>C n.2977G>C c.5172G>C (p.Leu1724=) c.5256G>C (p.Leu1752=) c.5304G>C (p.Leu1768=) c.4278G>C (p.Leu1426=) c.3859G>C c.3420G>C (p.Leu1140=) c.*1237G>C (n.*1237G>C) c.4573G>C c.5346G>C (p.Leu1782=) c.5343G>C (p.Leu1781=) c.5298G>C (p.Leu1766=) c.4422G>C (p.Leu1474=) c.4191G>C (p.Leu1397=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298515G= | CA1928998422 | PLCE1 | c.4380G= (p.Leu1460=) c.*1847G= (n.*1847G=) n.2039G= n.723G= c.*588G= (n.*588G=) c.4332G= (p.Leu1444=) n.9512G= n.2977G= c.5172G= (p.Leu1724=) c.5256G= (p.Leu1752=) c.5304G= (p.Leu1768=) c.4278G= (p.Leu1426=) c.3859G= c.3420G= (p.Leu1140=) c.*1237G= (n.*1237G=) c.4573G= c.5346G= (p.Leu1782=) c.5343G= (p.Leu1781=) c.5298G= (p.Leu1766=) c.4422G= (p.Leu1474=) c.4191G= (p.Leu1397=) | |
10 | g.94298515G>T | CA470986526 | PLCE1 | c.4380G>T (p.Leu1460=) c.*1847G>T (n.*1847G>T) n.2039G>T n.723G>T c.*588G>T (n.*588G>T) c.4332G>T (p.Leu1444=) n.9512G>T n.2977G>T c.5172G>T (p.Leu1724=) c.5256G>T (p.Leu1752=) c.5304G>T (p.Leu1768=) c.4278G>T (p.Leu1426=) c.3859G>T c.3420G>T (p.Leu1140=) c.*1237G>T (n.*1237G>T) c.4573G>T c.5346G>T (p.Leu1782=) c.5343G>T (p.Leu1781=) c.5298G>T (p.Leu1766=) c.4422G>T (p.Leu1474=) c.4191G>T (p.Leu1397=) | |
10 | g.94298516T>A | CA377641942 | PLCE1 | c.4381T>A (p.Cys1461Ser) c.*1848T>A (n.*1848T>A) n.2040T>A n.724T>A c.*589T>A (n.*589T>A) c.4333T>A (p.Cys1445Ser) n.9513T>A n.2978T>A c.5173T>A (p.Cys1725Ser) c.5257T>A (p.Cys1753Ser) c.5305T>A (p.Cys1769Ser) c.4279T>A (p.Cys1427Ser) c.3860T>A c.3421T>A (p.Cys1141Ser) c.*1238T>A (n.*1238T>A) c.4574T>A c.5347T>A (p.Cys1783Ser) c.5344T>A (p.Cys1782Ser) c.5299T>A (p.Cys1767Ser) c.4423T>A (p.Cys1475Ser) c.4192T>A (p.Cys1398Ser) | |
10 | g.94298516T>C | CA377641943 | PLCE1 | c.4381T>C (p.Cys1461Arg) c.*1848T>C (n.*1848T>C) n.2040T>C n.724T>C c.*589T>C (n.*589T>C) c.4333T>C (p.Cys1445Arg) n.9513T>C n.2978T>C c.5173T>C (p.Cys1725Arg) c.5257T>C (p.Cys1753Arg) c.5305T>C (p.Cys1769Arg) c.4279T>C (p.Cys1427Arg) c.3860T>C c.3421T>C (p.Cys1141Arg) c.*1238T>C (n.*1238T>C) c.4574T>C c.5347T>C (p.Cys1783Arg) c.5344T>C (p.Cys1782Arg) c.5299T>C (p.Cys1767Arg) c.4423T>C (p.Cys1475Arg) c.4192T>C (p.Cys1398Arg) | |
10 | g.94298516T>G | CA377641944 | PLCE1 | c.4381T>G (p.Cys1461Gly) c.*1848T>G (n.*1848T>G) n.2040T>G n.724T>G c.*589T>G (n.*589T>G) c.4333T>G (p.Cys1445Gly) n.9513T>G n.2978T>G c.5173T>G (p.Cys1725Gly) c.5257T>G (p.Cys1753Gly) c.5305T>G (p.Cys1769Gly) c.4279T>G (p.Cys1427Gly) c.3860T>G c.3421T>G (p.Cys1141Gly) c.*1238T>G (n.*1238T>G) c.4574T>G c.5347T>G (p.Cys1783Gly) c.5344T>G (p.Cys1782Gly) c.5299T>G (p.Cys1767Gly) c.4423T>G (p.Cys1475Gly) c.4192T>G (p.Cys1398Gly) | |
10 | g.94298517G>A | CA377641945 | PLCE1 | c.4382G>A (p.Cys1461Tyr) c.*1849G>A (n.*1849G>A) n.2041G>A n.725G>A c.*590G>A (n.*590G>A) c.4334G>A (p.Cys1445Tyr) n.9514G>A n.2979G>A c.5174G>A (p.Cys1725Tyr) c.5258G>A (p.Cys1753Tyr) c.5306G>A (p.Cys1769Tyr) c.4280G>A (p.Cys1427Tyr) c.3861G>A c.3422G>A (p.Cys1141Tyr) c.*1239G>A (n.*1239G>A) c.4575G>A c.5348G>A (p.Cys1783Tyr) c.5345G>A (p.Cys1782Tyr) c.5300G>A (p.Cys1767Tyr) c.4424G>A (p.Cys1475Tyr) c.4193G>A (p.Cys1398Tyr) | gnomAD v4 |
10 | g.94298517G>C | CA377641946 | PLCE1 | c.4382G>C (p.Cys1461Ser) c.*1849G>C (n.*1849G>C) n.2041G>C n.725G>C c.*590G>C (n.*590G>C) c.4334G>C (p.Cys1445Ser) n.9514G>C n.2979G>C c.5174G>C (p.Cys1725Ser) c.5258G>C (p.Cys1753Ser) c.5306G>C (p.Cys1769Ser) c.4280G>C (p.Cys1427Ser) c.3861G>C c.3422G>C (p.Cys1141Ser) c.*1239G>C (n.*1239G>C) c.4575G>C c.5348G>C (p.Cys1783Ser) c.5345G>C (p.Cys1782Ser) c.5300G>C (p.Cys1767Ser) c.4424G>C (p.Cys1475Ser) c.4193G>C (p.Cys1398Ser) | |
10 | g.94298517G>T | CA377641947 | PLCE1 | c.4382G>T (p.Cys1461Phe) c.*1849G>T (n.*1849G>T) n.2041G>T n.725G>T c.*590G>T (n.*590G>T) c.4334G>T (p.Cys1445Phe) n.9514G>T n.2979G>T c.5174G>T (p.Cys1725Phe) c.5258G>T (p.Cys1753Phe) c.5306G>T (p.Cys1769Phe) c.4280G>T (p.Cys1427Phe) c.3861G>T c.3422G>T (p.Cys1141Phe) c.*1239G>T (n.*1239G>T) c.4575G>T c.5348G>T (p.Cys1783Phe) c.5345G>T (p.Cys1782Phe) c.5300G>T (p.Cys1767Phe) c.4424G>T (p.Cys1475Phe) c.4193G>T (p.Cys1398Phe) | |
10 | g.94298518T>A | CA377641948 | PLCE1 | c.4383T>A (p.Cys1461Ter) c.*1850T>A (n.*1850T>A) n.2042T>A n.726T>A c.*591T>A (n.*591T>A) c.4335T>A (p.Cys1445Ter) n.9515T>A n.2980T>A c.5175T>A (p.Cys1725Ter) c.5259T>A (p.Cys1753Ter) c.5307T>A (p.Cys1769Ter) c.4281T>A (p.Cys1427Ter) c.3862T>A c.3423T>A (p.Cys1141Ter) c.*1240T>A (n.*1240T>A) c.4576T>A c.5349T>A (p.Cys1783Ter) c.5346T>A (p.Cys1782Ter) c.5301T>A (p.Cys1767Ter) c.4425T>A (p.Cys1475Ter) c.4194T>A (p.Cys1398Ter) | |
10 | g.94298518T>C | CA470986528 | PLCE1 | c.4383T>C (p.Cys1461=) c.*1850T>C (n.*1850T>C) n.2042T>C n.726T>C c.*591T>C (n.*591T>C) c.4335T>C (p.Cys1445=) n.9515T>C n.2980T>C c.5175T>C (p.Cys1725=) c.5259T>C (p.Cys1753=) c.5307T>C (p.Cys1769=) c.4281T>C (p.Cys1427=) c.3862T>C c.3423T>C (p.Cys1141=) c.*1240T>C (n.*1240T>C) c.4576T>C c.5349T>C (p.Cys1783=) c.5346T>C (p.Cys1782=) c.5301T>C (p.Cys1767=) c.4425T>C (p.Cys1475=) c.4194T>C (p.Cys1398=) | COSMIC COSMIC COSMIC COSMIC |
10 | g.94298518T>G | CA377641949 | PLCE1 | c.4383T>G (p.Cys1461Trp) c.*1850T>G (n.*1850T>G) n.2042T>G n.726T>G c.*591T>G (n.*591T>G) c.4335T>G (p.Cys1445Trp) n.9515T>G n.2980T>G c.5175T>G (p.Cys1725Trp) c.5259T>G (p.Cys1753Trp) c.5307T>G (p.Cys1769Trp) c.4281T>G (p.Cys1427Trp) c.3862T>G c.3423T>G (p.Cys1141Trp) c.*1240T>G (n.*1240T>G) c.4576T>G c.5349T>G (p.Cys1783Trp) c.5346T>G (p.Cys1782Trp) c.5301T>G (p.Cys1767Trp) c.4425T>G (p.Cys1475Trp) c.4194T>G (p.Cys1398Trp) | |
10 | g.94298519C>A | CA377641950 | PLCE1 | c.4384C>A (p.Arg1462Ser) c.*1851C>A (n.*1851C>A) n.2043C>A n.727C>A c.*592C>A (n.*592C>A) c.4336C>A (p.Arg1446Ser) n.9516C>A n.2981C>A c.5176C>A (p.Arg1726Ser) c.5260C>A (p.Arg1754Ser) c.5308C>A (p.Arg1770Ser) c.4282C>A (p.Arg1428Ser) c.3863C>A c.3424C>A (p.Arg1142Ser) c.*1241C>A (n.*1241C>A) c.4577C>A c.5350C>A (p.Arg1784Ser) c.5347C>A (p.Arg1783Ser) c.5302C>A (p.Arg1768Ser) c.4426C>A (p.Arg1476Ser) c.4195C>A (p.Arg1399Ser) | |
10 | g.94298519C= | CA1928998423 | PLCE1 | c.4384C= (p.Arg1462=) c.*1851C= (n.*1851C=) n.2043C= n.727C= c.*592C= (n.*592C=) c.4336C= (p.Arg1446=) n.9516C= n.2981C= c.5176C= (p.Arg1726=) c.5260C= (p.Arg1754=) c.5308C= (p.Arg1770=) c.4282C= (p.Arg1428=) c.3863C= c.3424C= (p.Arg1142=) c.*1241C= (n.*1241C=) c.4577C= c.5350C= (p.Arg1784=) c.5347C= (p.Arg1783=) c.5302C= (p.Arg1768=) c.4426C= (p.Arg1476=) c.4195C= (p.Arg1399=) | |
10 | g.94298519C>G | CA377641951 | PLCE1 | c.4384C>G (p.Arg1462Gly) c.*1851C>G (n.*1851C>G) n.2043C>G n.727C>G c.*592C>G (n.*592C>G) c.4336C>G (p.Arg1446Gly) n.9516C>G n.2981C>G c.5176C>G (p.Arg1726Gly) c.5260C>G (p.Arg1754Gly) c.5308C>G (p.Arg1770Gly) c.4282C>G (p.Arg1428Gly) c.3863C>G c.3424C>G (p.Arg1142Gly) c.*1241C>G (n.*1241C>G) c.4577C>G c.5350C>G (p.Arg1784Gly) c.5347C>G (p.Arg1783Gly) c.5302C>G (p.Arg1768Gly) c.4426C>G (p.Arg1476Gly) c.4195C>G (p.Arg1399Gly) | |
10 | g.94298519C>T | CA5613334 | PLCE1 | c.4384C>T (p.Arg1462Cys) c.*1851C>T (n.*1851C>T) n.2043C>T n.727C>T c.*592C>T (n.*592C>T) c.4336C>T (p.Arg1446Cys) n.9516C>T n.2981C>T c.5176C>T (p.Arg1726Cys) c.5260C>T (p.Arg1754Cys) c.5308C>T (p.Arg1770Cys) c.4282C>T (p.Arg1428Cys) c.3863C>T c.3424C>T (p.Arg1142Cys) c.*1241C>T (n.*1241C>T) c.4577C>T c.5350C>T (p.Arg1784Cys) c.5347C>T (p.Arg1783Cys) c.5302C>T (p.Arg1768Cys) c.4426C>T (p.Arg1476Cys) c.4195C>T (p.Arg1399Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298520G>A | CA5613335 | PLCE1 | c.4385G>A (p.Arg1462His) c.*1852G>A (n.*1852G>A) n.2044G>A n.728G>A c.*593G>A (n.*593G>A) c.4337G>A (p.Arg1446His) n.9517G>A n.2982G>A c.5177G>A (p.Arg1726His) c.5261G>A (p.Arg1754His) c.5309G>A (p.Arg1770His) c.4283G>A (p.Arg1428His) c.3864G>A c.3425G>A (p.Arg1142His) c.*1242G>A (n.*1242G>A) c.4578G>A c.5351G>A (p.Arg1784His) c.5348G>A (p.Arg1783His) c.5303G>A (p.Arg1768His) c.4427G>A (p.Arg1476His) c.4196G>A (p.Arg1399His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298520G>C | CA377641952 | PLCE1 | c.4385G>C (p.Arg1462Pro) c.*1852G>C (n.*1852G>C) n.2044G>C n.728G>C c.*593G>C (n.*593G>C) c.4337G>C (p.Arg1446Pro) n.9517G>C n.2982G>C c.5177G>C (p.Arg1726Pro) c.5261G>C (p.Arg1754Pro) c.5309G>C (p.Arg1770Pro) c.4283G>C (p.Arg1428Pro) c.3864G>C c.3425G>C (p.Arg1142Pro) c.*1242G>C (n.*1242G>C) c.4578G>C c.5351G>C (p.Arg1784Pro) c.5348G>C (p.Arg1783Pro) c.5303G>C (p.Arg1768Pro) c.4427G>C (p.Arg1476Pro) c.4196G>C (p.Arg1399Pro) | |
10 | g.94298520G= | CA1928998424 | PLCE1 | c.4385G= (p.Arg1462=) c.*1852G= (n.*1852G=) n.2044G= n.728G= c.*593G= (n.*593G=) c.4337G= (p.Arg1446=) n.9517G= n.2982G= c.5177G= (p.Arg1726=) c.5261G= (p.Arg1754=) c.5309G= (p.Arg1770=) c.4283G= (p.Arg1428=) c.3864G= c.3425G= (p.Arg1142=) c.*1242G= (n.*1242G=) c.4578G= c.5351G= (p.Arg1784=) c.5348G= (p.Arg1783=) c.5303G= (p.Arg1768=) c.4427G= (p.Arg1476=) c.4196G= (p.Arg1399=) | |
10 | g.94298520G>T | CA377641953 | PLCE1 | c.4385G>T (p.Arg1462Leu) c.*1852G>T (n.*1852G>T) n.2044G>T n.728G>T c.*593G>T (n.*593G>T) c.4337G>T (p.Arg1446Leu) n.9517G>T n.2982G>T c.5177G>T (p.Arg1726Leu) c.5261G>T (p.Arg1754Leu) c.5309G>T (p.Arg1770Leu) c.4283G>T (p.Arg1428Leu) c.3864G>T c.3425G>T (p.Arg1142Leu) c.*1242G>T (n.*1242G>T) c.4578G>T c.5351G>T (p.Arg1784Leu) c.5348G>T (p.Arg1783Leu) c.5303G>T (p.Arg1768Leu) c.4427G>T (p.Arg1476Leu) c.4196G>T (p.Arg1399Leu) | |
10 | g.94298521C>A | CA470986530 | PLCE1 | c.4386C>A (p.Arg1462=) c.*1853C>A (n.*1853C>A) n.2045C>A n.729C>A c.*594C>A (n.*594C>A) c.4338C>A (p.Arg1446=) n.9518C>A n.2983C>A c.5178C>A (p.Arg1726=) c.5262C>A (p.Arg1754=) c.5310C>A (p.Arg1770=) c.4284C>A (p.Arg1428=) c.3865C>A c.3426C>A (p.Arg1142=) c.*1243C>A (n.*1243C>A) c.4579C>A c.5352C>A (p.Arg1784=) c.5349C>A (p.Arg1783=) c.5304C>A (p.Arg1768=) c.4428C>A (p.Arg1476=) c.4197C>A (p.Arg1399=) | |
10 | g.94298521C>G | CA470986532 | PLCE1 | c.4386C>G (p.Arg1462=) c.*1853C>G (n.*1853C>G) n.2045C>G n.729C>G c.*594C>G (n.*594C>G) c.4338C>G (p.Arg1446=) n.9518C>G n.2983C>G c.5178C>G (p.Arg1726=) c.5262C>G (p.Arg1754=) c.5310C>G (p.Arg1770=) c.4284C>G (p.Arg1428=) c.3865C>G c.3426C>G (p.Arg1142=) c.*1243C>G (n.*1243C>G) c.4579C>G c.5352C>G (p.Arg1784=) c.5349C>G (p.Arg1783=) c.5304C>G (p.Arg1768=) c.4428C>G (p.Arg1476=) c.4197C>G (p.Arg1399=) | |
10 | g.94298521C>T | CA470986531 | PLCE1 | c.4386C>T (p.Arg1462=) c.*1853C>T (n.*1853C>T) n.2045C>T n.729C>T c.*594C>T (n.*594C>T) c.4338C>T (p.Arg1446=) n.9518C>T n.2983C>T c.5178C>T (p.Arg1726=) c.5262C>T (p.Arg1754=) c.5310C>T (p.Arg1770=) c.4284C>T (p.Arg1428=) c.3865C>T c.3426C>T (p.Arg1142=) c.*1243C>T (n.*1243C>T) c.4579C>T c.5352C>T (p.Arg1784=) c.5349C>T (p.Arg1783=) c.5304C>T (p.Arg1768=) c.4428C>T (p.Arg1476=) c.4197C>T (p.Arg1399=) | |
10 | g.94298522A>C | CA470986533 | PLCE1 | c.4387A>C (p.Arg1463=) c.*1854A>C (n.*1854A>C) n.2046A>C n.730A>C c.*595A>C (n.*595A>C) c.4339A>C (p.Arg1447=) n.9519A>C n.2984A>C c.5179A>C (p.Arg1727=) c.5263A>C (p.Arg1755=) c.5311A>C (p.Arg1771=) c.4285A>C (p.Arg1429=) c.3866A>C c.3427A>C (p.Arg1143=) c.*1244A>C (n.*1244A>C) c.4580A>C c.5353A>C (p.Arg1785=) c.5350A>C (p.Arg1784=) c.5305A>C (p.Arg1769=) c.4429A>C (p.Arg1477=) c.4198A>C (p.Arg1400=) | |
10 | g.94298522A>G | CA377641955 | PLCE1 | c.4387A>G (p.Arg1463Gly) c.*1854A>G (n.*1854A>G) n.2046A>G n.730A>G c.*595A>G (n.*595A>G) c.4339A>G (p.Arg1447Gly) n.9519A>G n.2984A>G c.5179A>G (p.Arg1727Gly) c.5263A>G (p.Arg1755Gly) c.5311A>G (p.Arg1771Gly) c.4285A>G (p.Arg1429Gly) c.3866A>G c.3427A>G (p.Arg1143Gly) c.*1244A>G (n.*1244A>G) c.4580A>G c.5353A>G (p.Arg1785Gly) c.5350A>G (p.Arg1784Gly) c.5305A>G (p.Arg1769Gly) c.4429A>G (p.Arg1477Gly) c.4198A>G (p.Arg1400Gly) | |
10 | g.94298522A>T | CA377641954 | PLCE1 | c.4387A>T (p.Arg1463Trp) c.*1854A>T (n.*1854A>T) n.2046A>T n.730A>T c.*595A>T (n.*595A>T) c.4339A>T (p.Arg1447Trp) n.9519A>T n.2984A>T c.5179A>T (p.Arg1727Trp) c.5263A>T (p.Arg1755Trp) c.5311A>T (p.Arg1771Trp) c.4285A>T (p.Arg1429Trp) c.3866A>T c.3427A>T (p.Arg1143Trp) c.*1244A>T (n.*1244A>T) c.4580A>T c.5353A>T (p.Arg1785Trp) c.5350A>T (p.Arg1784Trp) c.5305A>T (p.Arg1769Trp) c.4429A>T (p.Arg1477Trp) c.4198A>T (p.Arg1400Trp) | |
10 | g.94298523G>A | CA377641956 | PLCE1 | c.4388G>A (p.Arg1463Lys) c.*1855G>A (n.*1855G>A) n.2047G>A n.731G>A c.*596G>A (n.*596G>A) c.4340G>A (p.Arg1447Lys) n.9520G>A n.2985G>A c.5180G>A (p.Arg1727Lys) c.5264G>A (p.Arg1755Lys) c.5312G>A (p.Arg1771Lys) c.4286G>A (p.Arg1429Lys) c.3867G>A c.3428G>A (p.Arg1143Lys) c.*1245G>A (n.*1245G>A) c.4581G>A c.5354G>A (p.Arg1785Lys) c.5351G>A (p.Arg1784Lys) c.5306G>A (p.Arg1769Lys) c.4430G>A (p.Arg1477Lys) c.4199G>A (p.Arg1400Lys) | gnomAD v4 |
10 | g.94298523G>C | CA377641957 | PLCE1 | c.4388G>C (p.Arg1463Thr) c.*1855G>C (n.*1855G>C) n.2047G>C n.731G>C c.*596G>C (n.*596G>C) c.4340G>C (p.Arg1447Thr) n.9520G>C n.2985G>C c.5180G>C (p.Arg1727Thr) c.5264G>C (p.Arg1755Thr) c.5312G>C (p.Arg1771Thr) c.4286G>C (p.Arg1429Thr) c.3867G>C c.3428G>C (p.Arg1143Thr) c.*1245G>C (n.*1245G>C) c.4581G>C c.5354G>C (p.Arg1785Thr) c.5351G>C (p.Arg1784Thr) c.5306G>C (p.Arg1769Thr) c.4430G>C (p.Arg1477Thr) c.4199G>C (p.Arg1400Thr) | dbSNP |
10 | g.94298523G= | CA1928998425 | PLCE1 | c.4388G= (p.Arg1463=) c.*1855G= (n.*1855G=) n.2047G= n.731G= c.*596G= (n.*596G=) c.4340G= (p.Arg1447=) n.9520G= n.2985G= c.5180G= (p.Arg1727=) c.5264G= (p.Arg1755=) c.5312G= (p.Arg1771=) c.4286G= (p.Arg1429=) c.3867G= c.3428G= (p.Arg1143=) c.*1245G= (n.*1245G=) c.4581G= c.5354G= (p.Arg1785=) c.5351G= (p.Arg1784=) c.5306G= (p.Arg1769=) c.4430G= (p.Arg1477=) c.4199G= (p.Arg1400=) | |
10 | g.94298523G>T | CA377641958 | PLCE1 | c.4388G>T (p.Arg1463Met) c.*1855G>T (n.*1855G>T) n.2047G>T n.731G>T c.*596G>T (n.*596G>T) c.4340G>T (p.Arg1447Met) n.9520G>T n.2985G>T c.5180G>T (p.Arg1727Met) c.5264G>T (p.Arg1755Met) c.5312G>T (p.Arg1771Met) c.4286G>T (p.Arg1429Met) c.3867G>T c.3428G>T (p.Arg1143Met) c.*1245G>T (n.*1245G>T) c.4581G>T c.5354G>T (p.Arg1785Met) c.5351G>T (p.Arg1784Met) c.5306G>T (p.Arg1769Met) c.4430G>T (p.Arg1477Met) c.4199G>T (p.Arg1400Met) | |
10 | g.94298524G>A | CA470986535 | PLCE1 | c.4389G>A (p.Arg1463=) c.*1856G>A (n.*1856G>A) n.2048G>A n.732G>A c.*597G>A (n.*597G>A) c.4341G>A (p.Arg1447=) n.9521G>A n.2986G>A c.5181G>A (p.Arg1727=) c.5265G>A (p.Arg1755=) c.5313G>A (p.Arg1771=) c.4287G>A (p.Arg1429=) c.3868G>A c.3429G>A (p.Arg1143=) c.*1246G>A (n.*1246G>A) c.4582G>A c.5355G>A (p.Arg1785=) c.5352G>A (p.Arg1784=) c.5307G>A (p.Arg1769=) c.4431G>A (p.Arg1477=) c.4200G>A (p.Arg1400=) | |
10 | g.94298524G>C | CA377641959 | PLCE1 | c.4389G>C (p.Arg1463Ser) c.*1856G>C (n.*1856G>C) n.2048G>C n.732G>C c.*597G>C (n.*597G>C) c.4341G>C (p.Arg1447Ser) n.9521G>C n.2986G>C c.5181G>C (p.Arg1727Ser) c.5265G>C (p.Arg1755Ser) c.5313G>C (p.Arg1771Ser) c.4287G>C (p.Arg1429Ser) c.3868G>C c.3429G>C (p.Arg1143Ser) c.*1246G>C (n.*1246G>C) c.4582G>C c.5355G>C (p.Arg1785Ser) c.5352G>C (p.Arg1784Ser) c.5307G>C (p.Arg1769Ser) c.4431G>C (p.Arg1477Ser) c.4200G>C (p.Arg1400Ser) | |
10 | g.94298524G= | CA1928998426 | PLCE1 | c.4389G= (p.Arg1463=) c.*1856G= (n.*1856G=) n.2048G= n.732G= c.*597G= (n.*597G=) c.4341G= (p.Arg1447=) n.9521G= n.2986G= c.5181G= (p.Arg1727=) c.5265G= (p.Arg1755=) c.5313G= (p.Arg1771=) c.4287G= (p.Arg1429=) c.3868G= c.3429G= (p.Arg1143=) c.*1246G= (n.*1246G=) c.4582G= c.5355G= (p.Arg1785=) c.5352G= (p.Arg1784=) c.5307G= (p.Arg1769=) c.4431G= (p.Arg1477=) c.4200G= (p.Arg1400=) | |
10 | g.94298524G>T | CA5613336 | PLCE1 | c.4389G>T (p.Arg1463Ser) c.*1856G>T (n.*1856G>T) n.2048G>T n.732G>T c.*597G>T (n.*597G>T) c.4341G>T (p.Arg1447Ser) n.9521G>T n.2986G>T c.5181G>T (p.Arg1727Ser) c.5265G>T (p.Arg1755Ser) c.5313G>T (p.Arg1771Ser) c.4287G>T (p.Arg1429Ser) c.3868G>T c.3429G>T (p.Arg1143Ser) c.*1246G>T (n.*1246G>T) c.4582G>T c.5355G>T (p.Arg1785Ser) c.5352G>T (p.Arg1784Ser) c.5307G>T (p.Arg1769Ser) c.4431G>T (p.Arg1477Ser) c.4200G>T (p.Arg1400Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298525T>A | CA377641960 | PLCE1 | c.4390T>A (p.Tyr1464Asn) c.*1857T>A (n.*1857T>A) n.2049T>A n.733T>A c.*598T>A (n.*598T>A) c.4342T>A (p.Tyr1448Asn) n.9522T>A n.2987T>A c.5182T>A (p.Tyr1728Asn) c.5266T>A (p.Tyr1756Asn) c.5314T>A (p.Tyr1772Asn) c.4288T>A (p.Tyr1430Asn) c.3869T>A c.3430T>A (p.Tyr1144Asn) c.*1247T>A (n.*1247T>A) c.4583T>A c.5356T>A (p.Tyr1786Asn) c.5353T>A (p.Tyr1785Asn) c.5308T>A (p.Tyr1770Asn) c.4432T>A (p.Tyr1478Asn) c.4201T>A (p.Tyr1401Asn) | |
10 | g.94298525T>C | CA377641961 | PLCE1 | c.4390T>C (p.Tyr1464His) c.*1857T>C (n.*1857T>C) n.2049T>C n.733T>C c.*598T>C (n.*598T>C) c.4342T>C (p.Tyr1448His) n.9522T>C n.2987T>C c.5182T>C (p.Tyr1728His) c.5266T>C (p.Tyr1756His) c.5314T>C (p.Tyr1772His) c.4288T>C (p.Tyr1430His) c.3869T>C c.3430T>C (p.Tyr1144His) c.*1247T>C (n.*1247T>C) c.4583T>C c.5356T>C (p.Tyr1786His) c.5353T>C (p.Tyr1785His) c.5308T>C (p.Tyr1770His) c.4432T>C (p.Tyr1478His) c.4201T>C (p.Tyr1401His) | gnomAD v4 |
10 | g.94298525T>G | CA377641962 | PLCE1 | c.4390T>G (p.Tyr1464Asp) c.*1857T>G (n.*1857T>G) n.2049T>G n.733T>G c.*598T>G (n.*598T>G) c.4342T>G (p.Tyr1448Asp) n.9522T>G n.2987T>G c.5182T>G (p.Tyr1728Asp) c.5266T>G (p.Tyr1756Asp) c.5314T>G (p.Tyr1772Asp) c.4288T>G (p.Tyr1430Asp) c.3869T>G c.3430T>G (p.Tyr1144Asp) c.*1247T>G (n.*1247T>G) c.4583T>G c.5356T>G (p.Tyr1786Asp) c.5353T>G (p.Tyr1785Asp) c.5308T>G (p.Tyr1770Asp) c.4432T>G (p.Tyr1478Asp) c.4201T>G (p.Tyr1401Asp) | |
10 | g.94298526A>C | CA377641963 | PLCE1 | c.4391A>C (p.Tyr1464Ser) c.*1858A>C (n.*1858A>C) n.2050A>C n.734A>C c.*599A>C (n.*599A>C) c.4343A>C (p.Tyr1448Ser) n.9523A>C n.2988A>C c.5183A>C (p.Tyr1728Ser) c.5267A>C (p.Tyr1756Ser) c.5315A>C (p.Tyr1772Ser) c.4289A>C (p.Tyr1430Ser) c.3870A>C c.3431A>C (p.Tyr1144Ser) c.*1248A>C (n.*1248A>C) c.4584A>C c.5357A>C (p.Tyr1786Ser) c.5354A>C (p.Tyr1785Ser) c.5309A>C (p.Tyr1770Ser) c.4433A>C (p.Tyr1478Ser) c.4202A>C (p.Tyr1401Ser) | |
10 | g.94298526A>G | CA377641964 | PLCE1 | c.4391A>G (p.Tyr1464Cys) c.*1858A>G (n.*1858A>G) n.2050A>G n.734A>G c.*599A>G (n.*599A>G) c.4343A>G (p.Tyr1448Cys) n.9523A>G n.2988A>G c.5183A>G (p.Tyr1728Cys) c.5267A>G (p.Tyr1756Cys) c.5315A>G (p.Tyr1772Cys) c.4289A>G (p.Tyr1430Cys) c.3870A>G c.3431A>G (p.Tyr1144Cys) c.*1248A>G (n.*1248A>G) c.4584A>G c.5357A>G (p.Tyr1786Cys) c.5354A>G (p.Tyr1785Cys) c.5309A>G (p.Tyr1770Cys) c.4433A>G (p.Tyr1478Cys) c.4202A>G (p.Tyr1401Cys) | |
10 | g.94298526A>T | CA377641965 | PLCE1 | c.4391A>T (p.Tyr1464Phe) c.*1858A>T (n.*1858A>T) n.2050A>T n.734A>T c.*599A>T (n.*599A>T) c.4343A>T (p.Tyr1448Phe) n.9523A>T n.2988A>T c.5183A>T (p.Tyr1728Phe) c.5267A>T (p.Tyr1756Phe) c.5315A>T (p.Tyr1772Phe) c.4289A>T (p.Tyr1430Phe) c.3870A>T c.3431A>T (p.Tyr1144Phe) c.*1248A>T (n.*1248A>T) c.4584A>T c.5357A>T (p.Tyr1786Phe) c.5354A>T (p.Tyr1785Phe) c.5309A>T (p.Tyr1770Phe) c.4433A>T (p.Tyr1478Phe) c.4202A>T (p.Tyr1401Phe) | |
10 | g.94298527T>A | CA377641966 | PLCE1 | c.4392T>A (p.Tyr1464Ter) c.*1859T>A (n.*1859T>A) n.2051T>A n.735T>A c.*600T>A (n.*600T>A) c.4344T>A (p.Tyr1448Ter) n.9524T>A n.2989T>A c.5184T>A (p.Tyr1728Ter) c.5268T>A (p.Tyr1756Ter) c.5316T>A (p.Tyr1772Ter) c.4290T>A (p.Tyr1430Ter) c.3871T>A c.3432T>A (p.Tyr1144Ter) c.*1249T>A (n.*1249T>A) c.4585T>A c.5358T>A (p.Tyr1786Ter) c.5355T>A (p.Tyr1785Ter) c.5310T>A (p.Tyr1770Ter) c.4434T>A (p.Tyr1478Ter) c.4203T>A (p.Tyr1401Ter) | |
10 | g.94298527T>C | CA470986536 | PLCE1 | c.4392T>C (p.Tyr1464=) c.*1859T>C (n.*1859T>C) n.2051T>C n.735T>C c.*600T>C (n.*600T>C) c.4344T>C (p.Tyr1448=) n.9524T>C n.2989T>C c.5184T>C (p.Tyr1728=) c.5268T>C (p.Tyr1756=) c.5316T>C (p.Tyr1772=) c.4290T>C (p.Tyr1430=) c.3871T>C c.3432T>C (p.Tyr1144=) c.*1249T>C (n.*1249T>C) c.4585T>C c.5358T>C (p.Tyr1786=) c.5355T>C (p.Tyr1785=) c.5310T>C (p.Tyr1770=) c.4434T>C (p.Tyr1478=) c.4203T>C (p.Tyr1401=) | |
10 | g.94298527T>G | CA377641967 | PLCE1 | c.4392T>G (p.Tyr1464Ter) c.*1859T>G (n.*1859T>G) n.2051T>G n.735T>G c.*600T>G (n.*600T>G) c.4344T>G (p.Tyr1448Ter) n.9524T>G n.2989T>G c.5184T>G (p.Tyr1728Ter) c.5268T>G (p.Tyr1756Ter) c.5316T>G (p.Tyr1772Ter) c.4290T>G (p.Tyr1430Ter) c.3871T>G c.3432T>G (p.Tyr1144Ter) c.*1249T>G (n.*1249T>G) c.4585T>G c.5358T>G (p.Tyr1786Ter) c.5355T>G (p.Tyr1785Ter) c.5310T>G (p.Tyr1770Ter) c.4434T>G (p.Tyr1478Ter) c.4203T>G (p.Tyr1401Ter) | |
10 | g.94298528T>A | CA377641968 | PLCE1 | c.4393T>A (p.Ser1465Thr) c.*1860T>A (n.*1860T>A) n.2052T>A n.736T>A c.*601T>A (n.*601T>A) c.4345T>A (p.Ser1449Thr) n.9525T>A n.2990T>A c.5185T>A (p.Ser1729Thr) c.5269T>A (p.Ser1757Thr) c.5317T>A (p.Ser1773Thr) c.4291T>A (p.Ser1431Thr) c.3872T>A c.3433T>A (p.Ser1145Thr) c.*1250T>A (n.*1250T>A) c.4586T>A c.5359T>A (p.Ser1787Thr) c.5356T>A (p.Ser1786Thr) c.5311T>A (p.Ser1771Thr) c.4435T>A (p.Ser1479Thr) c.4204T>A (p.Ser1402Thr) | |
10 | g.94298528T>C | CA377641970 | PLCE1 | c.4393T>C (p.Ser1465Pro) c.*1860T>C (n.*1860T>C) n.2052T>C n.736T>C c.*601T>C (n.*601T>C) c.4345T>C (p.Ser1449Pro) n.9525T>C n.2990T>C c.5185T>C (p.Ser1729Pro) c.5269T>C (p.Ser1757Pro) c.5317T>C (p.Ser1773Pro) c.4291T>C (p.Ser1431Pro) c.3872T>C c.3433T>C (p.Ser1145Pro) c.*1250T>C (n.*1250T>C) c.4586T>C c.5359T>C (p.Ser1787Pro) c.5356T>C (p.Ser1786Pro) c.5311T>C (p.Ser1771Pro) c.4435T>C (p.Ser1479Pro) c.4204T>C (p.Ser1402Pro) | |
10 | g.94298528T>G | CA377641969 | PLCE1 | c.4393T>G (p.Ser1465Ala) c.*1860T>G (n.*1860T>G) n.2052T>G n.736T>G c.*601T>G (n.*601T>G) c.4345T>G (p.Ser1449Ala) n.9525T>G n.2990T>G c.5185T>G (p.Ser1729Ala) c.5269T>G (p.Ser1757Ala) c.5317T>G (p.Ser1773Ala) c.4291T>G (p.Ser1431Ala) c.3872T>G c.3433T>G (p.Ser1145Ala) c.*1250T>G (n.*1250T>G) c.4586T>G c.5359T>G (p.Ser1787Ala) c.5356T>G (p.Ser1786Ala) c.5311T>G (p.Ser1771Ala) c.4435T>G (p.Ser1479Ala) c.4204T>G (p.Ser1402Ala) | |
10 | g.94298529C>A | CA377641971 | PLCE1 | c.4394C>A (p.Ser1465Tyr) c.*1861C>A (n.*1861C>A) n.2053C>A n.737C>A c.*602C>A (n.*602C>A) c.4346C>A (p.Ser1449Tyr) n.9526C>A n.2991C>A c.5186C>A (p.Ser1729Tyr) c.5270C>A (p.Ser1757Tyr) c.5318C>A (p.Ser1773Tyr) c.4292C>A (p.Ser1431Tyr) c.3873C>A c.3434C>A (p.Ser1145Tyr) c.*1251C>A (n.*1251C>A) c.4587C>A c.5360C>A (p.Ser1787Tyr) c.5357C>A (p.Ser1786Tyr) c.5312C>A (p.Ser1771Tyr) c.4436C>A (p.Ser1479Tyr) c.4205C>A (p.Ser1402Tyr) | |
10 | g.94298529C>G | CA377641972 | PLCE1 | c.4394C>G (p.Ser1465Cys) c.*1861C>G (n.*1861C>G) n.2053C>G n.737C>G c.*602C>G (n.*602C>G) c.4346C>G (p.Ser1449Cys) n.9526C>G n.2991C>G c.5186C>G (p.Ser1729Cys) c.5270C>G (p.Ser1757Cys) c.5318C>G (p.Ser1773Cys) c.4292C>G (p.Ser1431Cys) c.3873C>G c.3434C>G (p.Ser1145Cys) c.*1251C>G (n.*1251C>G) c.4587C>G c.5360C>G (p.Ser1787Cys) c.5357C>G (p.Ser1786Cys) c.5312C>G (p.Ser1771Cys) c.4436C>G (p.Ser1479Cys) c.4205C>G (p.Ser1402Cys) | |
10 | g.94298529C>T | CA377641973 | PLCE1 | c.4394C>T (p.Ser1465Phe) c.*1861C>T (n.*1861C>T) n.2053C>T n.737C>T c.*602C>T (n.*602C>T) c.4346C>T (p.Ser1449Phe) n.9526C>T n.2991C>T c.5186C>T (p.Ser1729Phe) c.5270C>T (p.Ser1757Phe) c.5318C>T (p.Ser1773Phe) c.4292C>T (p.Ser1431Phe) c.3873C>T c.3434C>T (p.Ser1145Phe) c.*1251C>T (n.*1251C>T) c.4587C>T c.5360C>T (p.Ser1787Phe) c.5357C>T (p.Ser1786Phe) c.5312C>T (p.Ser1771Phe) c.4436C>T (p.Ser1479Phe) c.4205C>T (p.Ser1402Phe) | gnomAD v4 |
10 | g.94298530T>A | CA470986540 | PLCE1 | c.4395T>A (p.Ser1465=) c.*1862T>A (n.*1862T>A) n.2054T>A n.738T>A c.*603T>A (n.*603T>A) c.4347T>A (p.Ser1449=) n.9527T>A n.2992T>A c.5187T>A (p.Ser1729=) c.5271T>A (p.Ser1757=) c.5319T>A (p.Ser1773=) c.4293T>A (p.Ser1431=) c.3874T>A c.3435T>A (p.Ser1145=) c.*1252T>A (n.*1252T>A) c.4588T>A c.5361T>A (p.Ser1787=) c.5358T>A (p.Ser1786=) c.5313T>A (p.Ser1771=) c.4437T>A (p.Ser1479=) c.4206T>A (p.Ser1402=) | |
10 | g.94298530T>C | CA470986541 | PLCE1 | c.4395T>C (p.Ser1465=) c.*1862T>C (n.*1862T>C) n.2054T>C n.738T>C c.*603T>C (n.*603T>C) c.4347T>C (p.Ser1449=) n.9527T>C n.2992T>C c.5187T>C (p.Ser1729=) c.5271T>C (p.Ser1757=) c.5319T>C (p.Ser1773=) c.4293T>C (p.Ser1431=) c.3874T>C c.3435T>C (p.Ser1145=) c.*1252T>C (n.*1252T>C) c.4588T>C c.5361T>C (p.Ser1787=) c.5358T>C (p.Ser1786=) c.5313T>C (p.Ser1771=) c.4437T>C (p.Ser1479=) c.4206T>C (p.Ser1402=) | |
10 | g.94298530T>G | CA470986542 | PLCE1 | c.4395T>G (p.Ser1465=) c.*1862T>G (n.*1862T>G) n.2054T>G n.738T>G c.*603T>G (n.*603T>G) c.4347T>G (p.Ser1449=) n.9527T>G n.2992T>G c.5187T>G (p.Ser1729=) c.5271T>G (p.Ser1757=) c.5319T>G (p.Ser1773=) c.4293T>G (p.Ser1431=) c.3874T>G c.3435T>G (p.Ser1145=) c.*1252T>G (n.*1252T>G) c.4588T>G c.5361T>G (p.Ser1787=) c.5358T>G (p.Ser1786=) c.5313T>G (p.Ser1771=) c.4437T>G (p.Ser1479=) c.4206T>G (p.Ser1402=) | |
10 | g.94298531C>A | CA377641974 | PLCE1 | c.4396C>A (p.Gln1466Lys) c.*1863C>A (n.*1863C>A) n.2055C>A n.739C>A c.*604C>A (n.*604C>A) c.4348C>A (p.Gln1450Lys) n.9528C>A n.2993C>A c.5188C>A (p.Gln1730Lys) c.5272C>A (p.Gln1758Lys) c.5320C>A (p.Gln1774Lys) c.4294C>A (p.Gln1432Lys) c.3875C>A c.3436C>A (p.Gln1146Lys) c.*1253C>A (n.*1253C>A) c.4589C>A c.5362C>A (p.Gln1788Lys) c.5359C>A (p.Gln1787Lys) c.5314C>A (p.Gln1772Lys) c.4438C>A (p.Gln1480Lys) c.4207C>A (p.Gln1403Lys) | |
10 | g.94298531C= | CA1928998427 | PLCE1 | c.4396C= (p.Gln1466=) c.*1863C= (n.*1863C=) n.2055C= n.739C= c.*604C= (n.*604C=) c.4348C= (p.Gln1450=) n.9528C= n.2993C= c.5188C= (p.Gln1730=) c.5272C= (p.Gln1758=) c.5320C= (p.Gln1774=) c.4294C= (p.Gln1432=) c.3875C= c.3436C= (p.Gln1146=) c.*1253C= (n.*1253C=) c.4589C= c.5362C= (p.Gln1788=) c.5359C= (p.Gln1787=) c.5314C= (p.Gln1772=) c.4438C= (p.Gln1480=) c.4207C= (p.Gln1403=) | |
10 | g.94298531C>G | CA377641975 | PLCE1 | c.4396C>G (p.Gln1466Glu) c.*1863C>G (n.*1863C>G) n.2055C>G n.739C>G c.*604C>G (n.*604C>G) c.4348C>G (p.Gln1450Glu) n.9528C>G n.2993C>G c.5188C>G (p.Gln1730Glu) c.5272C>G (p.Gln1758Glu) c.5320C>G (p.Gln1774Glu) c.4294C>G (p.Gln1432Glu) c.3875C>G c.3436C>G (p.Gln1146Glu) c.*1253C>G (n.*1253C>G) c.4589C>G c.5362C>G (p.Gln1788Glu) c.5359C>G (p.Gln1787Glu) c.5314C>G (p.Gln1772Glu) c.4438C>G (p.Gln1480Glu) c.4207C>G (p.Gln1403Glu) | |
10 | g.94298531C>T | CA377641976 | PLCE1 | c.4396C>T (p.Gln1466Ter) c.*1863C>T (n.*1863C>T) n.2055C>T n.739C>T c.*604C>T (n.*604C>T) c.4348C>T (p.Gln1450Ter) n.9528C>T n.2993C>T c.5188C>T (p.Gln1730Ter) c.5272C>T (p.Gln1758Ter) c.5320C>T (p.Gln1774Ter) c.4294C>T (p.Gln1432Ter) c.3875C>T c.3436C>T (p.Gln1146Ter) c.*1253C>T (n.*1253C>T) c.4589C>T c.5362C>T (p.Gln1788Ter) c.5359C>T (p.Gln1787Ter) c.5314C>T (p.Gln1772Ter) c.4438C>T (p.Gln1480Ter) c.4207C>T (p.Gln1403Ter) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298532A>C | CA377641977 | PLCE1 | c.4397A>C (p.Gln1466Pro) c.*1864A>C (n.*1864A>C) n.2056A>C n.740A>C c.*605A>C (n.*605A>C) c.4349A>C (p.Gln1450Pro) n.9529A>C n.2994A>C c.5189A>C (p.Gln1730Pro) c.5273A>C (p.Gln1758Pro) c.5321A>C (p.Gln1774Pro) c.4295A>C (p.Gln1432Pro) c.3876A>C c.3437A>C (p.Gln1146Pro) c.*1254A>C (n.*1254A>C) c.4590A>C c.5363A>C (p.Gln1788Pro) c.5360A>C (p.Gln1787Pro) c.5315A>C (p.Gln1772Pro) c.4439A>C (p.Gln1480Pro) c.4208A>C (p.Gln1403Pro) | |
10 | g.94298532A>G | CA377641978 | PLCE1 | c.4397A>G (p.Gln1466Arg) c.*1864A>G (n.*1864A>G) n.2056A>G n.740A>G c.*605A>G (n.*605A>G) c.4349A>G (p.Gln1450Arg) n.9529A>G n.2994A>G c.5189A>G (p.Gln1730Arg) c.5273A>G (p.Gln1758Arg) c.5321A>G (p.Gln1774Arg) c.4295A>G (p.Gln1432Arg) c.3876A>G c.3437A>G (p.Gln1146Arg) c.*1254A>G (n.*1254A>G) c.4590A>G c.5363A>G (p.Gln1788Arg) c.5360A>G (p.Gln1787Arg) c.5315A>G (p.Gln1772Arg) c.4439A>G (p.Gln1480Arg) c.4208A>G (p.Gln1403Arg) | |
10 | g.94298532A>T | CA377641979 | PLCE1 | c.4397A>T (p.Gln1466Leu) c.*1864A>T (n.*1864A>T) n.2056A>T n.740A>T c.*605A>T (n.*605A>T) c.4349A>T (p.Gln1450Leu) n.9529A>T n.2994A>T c.5189A>T (p.Gln1730Leu) c.5273A>T (p.Gln1758Leu) c.5321A>T (p.Gln1774Leu) c.4295A>T (p.Gln1432Leu) c.3876A>T c.3437A>T (p.Gln1146Leu) c.*1254A>T (n.*1254A>T) c.4590A>T c.5363A>T (p.Gln1788Leu) c.5360A>T (p.Gln1787Leu) c.5315A>T (p.Gln1772Leu) c.4439A>T (p.Gln1480Leu) c.4208A>T (p.Gln1403Leu) | |
10 | g.94298533G>A | CA470986544 | PLCE1 | c.4398G>A (p.Gln1466=) c.*1865G>A (n.*1865G>A) n.2057G>A n.741G>A c.*606G>A (n.*606G>A) c.4350G>A (p.Gln1450=) n.9530G>A n.2995G>A c.5190G>A (p.Gln1730=) c.5274G>A (p.Gln1758=) c.5322G>A (p.Gln1774=) c.4296G>A (p.Gln1432=) c.3877G>A c.3438G>A (p.Gln1146=) c.*1255G>A (n.*1255G>A) c.4591G>A c.5364G>A (p.Gln1788=) c.5361G>A (p.Gln1787=) c.5316G>A (p.Gln1772=) c.4440G>A (p.Gln1480=) c.4209G>A (p.Gln1403=) | |
10 | g.94298533G>C | CA377641980 | PLCE1 | c.4398G>C (p.Gln1466His) c.*1865G>C (n.*1865G>C) n.2057G>C n.741G>C c.*606G>C (n.*606G>C) c.4350G>C (p.Gln1450His) n.9530G>C n.2995G>C c.5190G>C (p.Gln1730His) c.5274G>C (p.Gln1758His) c.5322G>C (p.Gln1774His) c.4296G>C (p.Gln1432His) c.3877G>C c.3438G>C (p.Gln1146His) c.*1255G>C (n.*1255G>C) c.4591G>C c.5364G>C (p.Gln1788His) c.5361G>C (p.Gln1787His) c.5316G>C (p.Gln1772His) c.4440G>C (p.Gln1480His) c.4209G>C (p.Gln1403His) | |
10 | g.94298533G>T | CA377641981 | PLCE1 | c.4398G>T (p.Gln1466His) c.*1865G>T (n.*1865G>T) n.2057G>T n.741G>T c.*606G>T (n.*606G>T) c.4350G>T (p.Gln1450His) n.9530G>T n.2995G>T c.5190G>T (p.Gln1730His) c.5274G>T (p.Gln1758His) c.5322G>T (p.Gln1774His) c.4296G>T (p.Gln1432His) c.3877G>T c.3438G>T (p.Gln1146His) c.*1255G>T (n.*1255G>T) c.4591G>T c.5364G>T (p.Gln1788His) c.5361G>T (p.Gln1787His) c.5316G>T (p.Gln1772His) c.4440G>T (p.Gln1480His) c.4209G>T (p.Gln1403His) | |
10 | g.94298534A>C | CA377641984 | PLCE1 | c.4399A>C (p.Lys1467Gln) c.*1866A>C (n.*1866A>C) n.2058A>C n.742A>C c.*607A>C (n.*607A>C) c.4351A>C (p.Lys1451Gln) n.9531A>C n.2996A>C c.5191A>C (p.Lys1731Gln) c.5275A>C (p.Lys1759Gln) c.5323A>C (p.Lys1775Gln) c.4297A>C (p.Lys1433Gln) c.3878A>C c.3439A>C (p.Lys1147Gln) c.*1256A>C (n.*1256A>C) c.4592A>C c.5365A>C (p.Lys1789Gln) c.5362A>C (p.Lys1788Gln) c.5317A>C (p.Lys1773Gln) c.4441A>C (p.Lys1481Gln) c.4210A>C (p.Lys1404Gln) | |
10 | g.94298534A>G | CA377641983 | PLCE1 | c.4399A>G (p.Lys1467Glu) c.*1866A>G (n.*1866A>G) n.2058A>G n.742A>G c.*607A>G (n.*607A>G) c.4351A>G (p.Lys1451Glu) n.9531A>G n.2996A>G c.5191A>G (p.Lys1731Glu) c.5275A>G (p.Lys1759Glu) c.5323A>G (p.Lys1775Glu) c.4297A>G (p.Lys1433Glu) c.3878A>G c.3439A>G (p.Lys1147Glu) c.*1256A>G (n.*1256A>G) c.4592A>G c.5365A>G (p.Lys1789Glu) c.5362A>G (p.Lys1788Glu) c.5317A>G (p.Lys1773Glu) c.4441A>G (p.Lys1481Glu) c.4210A>G (p.Lys1404Glu) | |
10 | g.94298534A>T | CA377641982 | PLCE1 | c.4399A>T (p.Lys1467Ter) c.*1866A>T (n.*1866A>T) n.2058A>T n.742A>T c.*607A>T (n.*607A>T) c.4351A>T (p.Lys1451Ter) n.9531A>T n.2996A>T c.5191A>T (p.Lys1731Ter) c.5275A>T (p.Lys1759Ter) c.5323A>T (p.Lys1775Ter) c.4297A>T (p.Lys1433Ter) c.3878A>T c.3439A>T (p.Lys1147Ter) c.*1256A>T (n.*1256A>T) c.4592A>T c.5365A>T (p.Lys1789Ter) c.5362A>T (p.Lys1788Ter) c.5317A>T (p.Lys1773Ter) c.4441A>T (p.Lys1481Ter) c.4210A>T (p.Lys1404Ter) | |
10 | g.94298535A>C | CA377641985 | PLCE1 | c.4400A>C (p.Lys1467Thr) c.*1867A>C (n.*1867A>C) n.2059A>C n.743A>C c.*608A>C (n.*608A>C) c.4352A>C (p.Lys1451Thr) n.9532A>C n.2997A>C c.5192A>C (p.Lys1731Thr) c.5276A>C (p.Lys1759Thr) c.5324A>C (p.Lys1775Thr) c.4298A>C (p.Lys1433Thr) c.3879A>C c.3440A>C (p.Lys1147Thr) c.*1257A>C (n.*1257A>C) c.4593A>C c.5366A>C (p.Lys1789Thr) c.5363A>C (p.Lys1788Thr) c.5318A>C (p.Lys1773Thr) c.4442A>C (p.Lys1481Thr) c.4211A>C (p.Lys1404Thr) | |
10 | g.94298535A>G | CA377641986 | PLCE1 | c.4400A>G (p.Lys1467Arg) c.*1867A>G (n.*1867A>G) n.2059A>G n.743A>G c.*608A>G (n.*608A>G) c.4352A>G (p.Lys1451Arg) n.9532A>G n.2997A>G c.5192A>G (p.Lys1731Arg) c.5276A>G (p.Lys1759Arg) c.5324A>G (p.Lys1775Arg) c.4298A>G (p.Lys1433Arg) c.3879A>G c.3440A>G (p.Lys1147Arg) c.*1257A>G (n.*1257A>G) c.4593A>G c.5366A>G (p.Lys1789Arg) c.5363A>G (p.Lys1788Arg) c.5318A>G (p.Lys1773Arg) c.4442A>G (p.Lys1481Arg) c.4211A>G (p.Lys1404Arg) | gnomAD v4 |
10 | g.94298535A>T | CA377641987 | PLCE1 | c.4400A>T (p.Lys1467Ile) c.*1867A>T (n.*1867A>T) n.2059A>T n.743A>T c.*608A>T (n.*608A>T) c.4352A>T (p.Lys1451Ile) n.9532A>T n.2997A>T c.5192A>T (p.Lys1731Ile) c.5276A>T (p.Lys1759Ile) c.5324A>T (p.Lys1775Ile) c.4298A>T (p.Lys1433Ile) c.3879A>T c.3440A>T (p.Lys1147Ile) c.*1257A>T (n.*1257A>T) c.4593A>T c.5366A>T (p.Lys1789Ile) c.5363A>T (p.Lys1788Ile) c.5318A>T (p.Lys1773Ile) c.4442A>T (p.Lys1481Ile) c.4211A>T (p.Lys1404Ile) | |
10 | g.94298535_94298536insT | CA645550159 | PLCE1 | c.4400_4401insT (p.Lys1467AsnfsTer?) c.*1867_*1868insT (n.*1867_*1868insT) n.2059_2060insT n.743_744insT c.*608_*609insT (n.*608_*609insT) c.4352_4353insT (p.Lys1451AsnfsTer?) n.9532_9533insT n.2997_2998insT c.5192_5193insT (p.Lys1731AsnfsTer?) c.5276_5277insT (p.Lys1759AsnfsTer?) c.5324_5325insT (p.Lys1775AsnfsTer?) c.4298_4299insT (p.Lys1433AsnfsTer?) c.3879_3880insT c.3440_3441insT (p.Lys1147AsnfsTer?) c.*1257_*1258insT (n.*1257_*1258insT) c.4593_4594insT c.5366_5367insT (p.Lys1789AsnfsTer?) c.5363_5364insT (p.Lys1788AsnfsTer?) c.5318_5319insT (p.Lys1773AsnfsTer?) c.4442_4443insT (p.Lys1481AsnfsTer?) c.4211_4212insT (p.Lys1404AsnfsTer?) | COSMIC COSMIC COSMIC COSMIC |
10 | g.94298536A= | CA1928998428 | PLCE1 | c.4401A= (p.Lys1467=) c.*1868A= (n.*1868A=) n.2060A= n.744A= c.*609A= (n.*609A=) c.4353A= (p.Lys1451=) n.9533A= n.2998A= c.5193A= (p.Lys1731=) c.5277A= (p.Lys1759=) c.5325A= (p.Lys1775=) c.4299A= (p.Lys1433=) c.3880A= c.3441A= (p.Lys1147=) c.*1258A= (n.*1258A=) c.4594A= c.5367A= (p.Lys1789=) c.5364A= (p.Lys1788=) c.5319A= (p.Lys1773=) c.4443A= (p.Lys1481=) c.4212A= (p.Lys1404=) | |
10 | g.94298536A>C | CA377641988 | PLCE1 | c.4401A>C (p.Lys1467Asn) c.*1868A>C (n.*1868A>C) n.2060A>C n.744A>C c.*609A>C (n.*609A>C) c.4353A>C (p.Lys1451Asn) n.9533A>C n.2998A>C c.5193A>C (p.Lys1731Asn) c.5277A>C (p.Lys1759Asn) c.5325A>C (p.Lys1775Asn) c.4299A>C (p.Lys1433Asn) c.3880A>C c.3441A>C (p.Lys1147Asn) c.*1258A>C (n.*1258A>C) c.4594A>C c.5367A>C (p.Lys1789Asn) c.5364A>C (p.Lys1788Asn) c.5319A>C (p.Lys1773Asn) c.4443A>C (p.Lys1481Asn) c.4212A>C (p.Lys1404Asn) | |
10 | g.94298536A>G | CA470986546 | PLCE1 | c.4401A>G (p.Lys1467=) c.*1868A>G (n.*1868A>G) n.2060A>G n.744A>G c.*609A>G (n.*609A>G) c.4353A>G (p.Lys1451=) n.9533A>G n.2998A>G c.5193A>G (p.Lys1731=) c.5277A>G (p.Lys1759=) c.5325A>G (p.Lys1775=) c.4299A>G (p.Lys1433=) c.3880A>G c.3441A>G (p.Lys1147=) c.*1258A>G (n.*1258A>G) c.4594A>G c.5367A>G (p.Lys1789=) c.5364A>G (p.Lys1788=) c.5319A>G (p.Lys1773=) c.4443A>G (p.Lys1481=) c.4212A>G (p.Lys1404=) | dbSNP gnomAD v4 |
10 | g.94298536A>T | CA377641989 | PLCE1 | c.4401A>T (p.Lys1467Asn) c.*1868A>T (n.*1868A>T) n.2060A>T n.744A>T c.*609A>T (n.*609A>T) c.4353A>T (p.Lys1451Asn) n.9533A>T n.2998A>T c.5193A>T (p.Lys1731Asn) c.5277A>T (p.Lys1759Asn) c.5325A>T (p.Lys1775Asn) c.4299A>T (p.Lys1433Asn) c.3880A>T c.3441A>T (p.Lys1147Asn) c.*1258A>T (n.*1258A>T) c.4594A>T c.5367A>T (p.Lys1789Asn) c.5364A>T (p.Lys1788Asn) c.5319A>T (p.Lys1773Asn) c.4443A>T (p.Lys1481Asn) c.4212A>T (p.Lys1404Asn) | |
10 | g.94298537C>A | CA377641990 | PLCE1 | c.4402C>A (p.Leu1468Met) c.*1869C>A (n.*1869C>A) n.2061C>A n.745C>A c.*610C>A (n.*610C>A) c.4354C>A (p.Leu1452Met) n.9534C>A n.2999C>A c.5194C>A (p.Leu1732Met) c.5278C>A (p.Leu1760Met) c.5326C>A (p.Leu1776Met) c.4300C>A (p.Leu1434Met) c.3881C>A c.3442C>A (p.Leu1148Met) c.*1259C>A (n.*1259C>A) c.4595C>A c.5368C>A (p.Leu1790Met) c.5365C>A (p.Leu1789Met) c.5320C>A (p.Leu1774Met) c.4444C>A (p.Leu1482Met) c.4213C>A (p.Leu1405Met) | |
10 | g.94298537C>G | CA377641991 | PLCE1 | c.4402C>G (p.Leu1468Val) c.*1869C>G (n.*1869C>G) n.2061C>G n.745C>G c.*610C>G (n.*610C>G) c.4354C>G (p.Leu1452Val) n.9534C>G n.2999C>G c.5194C>G (p.Leu1732Val) c.5278C>G (p.Leu1760Val) c.5326C>G (p.Leu1776Val) c.4300C>G (p.Leu1434Val) c.3881C>G c.3442C>G (p.Leu1148Val) c.*1259C>G (n.*1259C>G) c.4595C>G c.5368C>G (p.Leu1790Val) c.5365C>G (p.Leu1789Val) c.5320C>G (p.Leu1774Val) c.4444C>G (p.Leu1482Val) c.4213C>G (p.Leu1405Val) | gnomAD v4 |
10 | g.94298537C>T | CA470986547 | PLCE1 | c.4402C>T (p.Leu1468=) c.*1869C>T (n.*1869C>T) n.2061C>T n.745C>T c.*610C>T (n.*610C>T) c.4354C>T (p.Leu1452=) n.9534C>T n.2999C>T c.5194C>T (p.Leu1732=) c.5278C>T (p.Leu1760=) c.5326C>T (p.Leu1776=) c.4300C>T (p.Leu1434=) c.3881C>T c.3442C>T (p.Leu1148=) c.*1259C>T (n.*1259C>T) c.4595C>T c.5368C>T (p.Leu1790=) c.5365C>T (p.Leu1789=) c.5320C>T (p.Leu1774=) c.4444C>T (p.Leu1482=) c.4213C>T (p.Leu1405=) | |
10 | g.94298538T>A | CA377641992 | PLCE1 | c.4403T>A (p.Leu1468Gln) c.*1870T>A (n.*1870T>A) n.2062T>A n.746T>A c.*611T>A (n.*611T>A) c.4355T>A (p.Leu1452Gln) n.9535T>A n.3000T>A c.5195T>A (p.Leu1732Gln) c.5279T>A (p.Leu1760Gln) c.5327T>A (p.Leu1776Gln) c.4301T>A (p.Leu1434Gln) c.3882T>A c.3443T>A (p.Leu1148Gln) c.*1260T>A (n.*1260T>A) c.4596T>A c.5369T>A (p.Leu1790Gln) c.5366T>A (p.Leu1789Gln) c.5321T>A (p.Leu1774Gln) c.4445T>A (p.Leu1482Gln) c.4214T>A (p.Leu1405Gln) | |
10 | g.94298538T>C | CA377641993 | PLCE1 | c.4403T>C (p.Leu1468Pro) c.*1870T>C (n.*1870T>C) n.2062T>C n.746T>C c.*611T>C (n.*611T>C) c.4355T>C (p.Leu1452Pro) n.9535T>C n.3000T>C c.5195T>C (p.Leu1732Pro) c.5279T>C (p.Leu1760Pro) c.5327T>C (p.Leu1776Pro) c.4301T>C (p.Leu1434Pro) c.3882T>C c.3443T>C (p.Leu1148Pro) c.*1260T>C (n.*1260T>C) c.4596T>C c.5369T>C (p.Leu1790Pro) c.5366T>C (p.Leu1789Pro) c.5321T>C (p.Leu1774Pro) c.4445T>C (p.Leu1482Pro) c.4214T>C (p.Leu1405Pro) | |
10 | g.94298538T>G | CA377641994 | PLCE1 | c.4403T>G (p.Leu1468Arg) c.*1870T>G (n.*1870T>G) n.2062T>G n.746T>G c.*611T>G (n.*611T>G) c.4355T>G (p.Leu1452Arg) n.9535T>G n.3000T>G c.5195T>G (p.Leu1732Arg) c.5279T>G (p.Leu1760Arg) c.5327T>G (p.Leu1776Arg) c.4301T>G (p.Leu1434Arg) c.3882T>G c.3443T>G (p.Leu1148Arg) c.*1260T>G (n.*1260T>G) c.4596T>G c.5369T>G (p.Leu1790Arg) c.5366T>G (p.Leu1789Arg) c.5321T>G (p.Leu1774Arg) c.4445T>G (p.Leu1482Arg) c.4214T>G (p.Leu1405Arg) | |
10 | g.94298539G>A | CA470986549 | PLCE1 | c.4404G>A (p.Leu1468=) c.*1871G>A (n.*1871G>A) n.2063G>A n.747G>A c.*612G>A (n.*612G>A) c.4356G>A (p.Leu1452=) n.9536G>A n.3001G>A c.5196G>A (p.Leu1732=) c.5280G>A (p.Leu1760=) c.5328G>A (p.Leu1776=) c.4302G>A (p.Leu1434=) c.3883G>A c.3444G>A (p.Leu1148=) c.*1261G>A (n.*1261G>A) c.4597G>A c.5370G>A (p.Leu1790=) c.5367G>A (p.Leu1789=) c.5322G>A (p.Leu1774=) c.4446G>A (p.Leu1482=) c.4215G>A (p.Leu1405=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298539G>C | CA470986550 | PLCE1 | c.4404G>C (p.Leu1468=) c.*1871G>C (n.*1871G>C) n.2063G>C n.747G>C c.*612G>C (n.*612G>C) c.4356G>C (p.Leu1452=) n.9536G>C n.3001G>C c.5196G>C (p.Leu1732=) c.5280G>C (p.Leu1760=) c.5328G>C (p.Leu1776=) c.4302G>C (p.Leu1434=) c.3883G>C c.3444G>C (p.Leu1148=) c.*1261G>C (n.*1261G>C) c.4597G>C c.5370G>C (p.Leu1790=) c.5367G>C (p.Leu1789=) c.5322G>C (p.Leu1774=) c.4446G>C (p.Leu1482=) c.4215G>C (p.Leu1405=) | gnomAD v4 |
10 | g.94298539G= | CA1928998429 | PLCE1 | c.4404G= (p.Leu1468=) c.*1871G= (n.*1871G=) n.2063G= n.747G= c.*612G= (n.*612G=) c.4356G= (p.Leu1452=) n.9536G= n.3001G= c.5196G= (p.Leu1732=) c.5280G= (p.Leu1760=) c.5328G= (p.Leu1776=) c.4302G= (p.Leu1434=) c.3883G= c.3444G= (p.Leu1148=) c.*1261G= (n.*1261G=) c.4597G= c.5370G= (p.Leu1790=) c.5367G= (p.Leu1789=) c.5322G= (p.Leu1774=) c.4446G= (p.Leu1482=) c.4215G= (p.Leu1405=) | |
10 | g.94298539G>T | CA470986551 | PLCE1 | c.4404G>T (p.Leu1468=) c.*1871G>T (n.*1871G>T) n.2063G>T n.747G>T c.*612G>T (n.*612G>T) c.4356G>T (p.Leu1452=) n.9536G>T n.3001G>T c.5196G>T (p.Leu1732=) c.5280G>T (p.Leu1760=) c.5328G>T (p.Leu1776=) c.4302G>T (p.Leu1434=) c.3883G>T c.3444G>T (p.Leu1148=) c.*1261G>T (n.*1261G>T) c.4597G>T c.5370G>T (p.Leu1790=) c.5367G>T (p.Leu1789=) c.5322G>T (p.Leu1774=) c.4446G>T (p.Leu1482=) c.4215G>T (p.Leu1405=) | |
10 | g.94298540A>C | CA377641995 | PLCE1 | c.4405A>C (p.Thr1469Pro) c.*1872A>C (n.*1872A>C) n.2064A>C n.748A>C c.*613A>C (n.*613A>C) c.4357A>C (p.Thr1453Pro) n.9537A>C n.3002A>C c.5197A>C (p.Thr1733Pro) c.5281A>C (p.Thr1761Pro) c.5329A>C (p.Thr1777Pro) c.4303A>C (p.Thr1435Pro) c.3884A>C c.3445A>C (p.Thr1149Pro) c.*1262A>C (n.*1262A>C) c.4598A>C c.5371A>C (p.Thr1791Pro) c.5368A>C (p.Thr1790Pro) c.5323A>C (p.Thr1775Pro) c.4447A>C (p.Thr1483Pro) c.4216A>C (p.Thr1406Pro) | |
10 | g.94298540A>G | CA377641996 | PLCE1 | c.4405A>G (p.Thr1469Ala) c.*1872A>G (n.*1872A>G) n.2064A>G n.748A>G c.*613A>G (n.*613A>G) c.4357A>G (p.Thr1453Ala) n.9537A>G n.3002A>G c.5197A>G (p.Thr1733Ala) c.5281A>G (p.Thr1761Ala) c.5329A>G (p.Thr1777Ala) c.4303A>G (p.Thr1435Ala) c.3884A>G c.3445A>G (p.Thr1149Ala) c.*1262A>G (n.*1262A>G) c.4598A>G c.5371A>G (p.Thr1791Ala) c.5368A>G (p.Thr1790Ala) c.5323A>G (p.Thr1775Ala) c.4447A>G (p.Thr1483Ala) c.4216A>G (p.Thr1406Ala) | ClinVar gnomAD v4 |
10 | g.94298540A>T | CA377641997 | PLCE1 | c.4405A>T (p.Thr1469Ser) c.*1872A>T (n.*1872A>T) n.2064A>T n.748A>T c.*613A>T (n.*613A>T) c.4357A>T (p.Thr1453Ser) n.9537A>T n.3002A>T c.5197A>T (p.Thr1733Ser) c.5281A>T (p.Thr1761Ser) c.5329A>T (p.Thr1777Ser) c.4303A>T (p.Thr1435Ser) c.3884A>T c.3445A>T (p.Thr1149Ser) c.*1262A>T (n.*1262A>T) c.4598A>T c.5371A>T (p.Thr1791Ser) c.5368A>T (p.Thr1790Ser) c.5323A>T (p.Thr1775Ser) c.4447A>T (p.Thr1483Ser) c.4216A>T (p.Thr1406Ser) | |
10 | g.94298541C>A | CA377641998 | PLCE1 | c.4406C>A (p.Thr1469Asn) c.*1873C>A (n.*1873C>A) n.2065C>A n.749C>A c.*614C>A (n.*614C>A) c.4358C>A (p.Thr1453Asn) n.9538C>A n.3003C>A c.5198C>A (p.Thr1733Asn) c.5282C>A (p.Thr1761Asn) c.5330C>A (p.Thr1777Asn) c.4304C>A (p.Thr1435Asn) c.3885C>A c.3446C>A (p.Thr1149Asn) c.*1263C>A (n.*1263C>A) c.4599C>A c.5372C>A (p.Thr1791Asn) c.5369C>A (p.Thr1790Asn) c.5324C>A (p.Thr1775Asn) c.4448C>A (p.Thr1483Asn) c.4217C>A (p.Thr1406Asn) | dbSNP |
10 | g.94298541C= | CA1928998430 | PLCE1 | c.4406C= (p.Thr1469=) c.*1873C= (n.*1873C=) n.2065C= n.749C= c.*614C= (n.*614C=) c.4358C= (p.Thr1453=) n.9538C= n.3003C= c.5198C= (p.Thr1733=) c.5282C= (p.Thr1761=) c.5330C= (p.Thr1777=) c.4304C= (p.Thr1435=) c.3885C= c.3446C= (p.Thr1149=) c.*1263C= (n.*1263C=) c.4599C= c.5372C= (p.Thr1791=) c.5369C= (p.Thr1790=) c.5324C= (p.Thr1775=) c.4448C= (p.Thr1483=) c.4217C= (p.Thr1406=) | |
10 | g.94298541C>G | CA377641999 | PLCE1 | c.4406C>G (p.Thr1469Ser) c.*1873C>G (n.*1873C>G) n.2065C>G n.749C>G c.*614C>G (n.*614C>G) c.4358C>G (p.Thr1453Ser) n.9538C>G n.3003C>G c.5198C>G (p.Thr1733Ser) c.5282C>G (p.Thr1761Ser) c.5330C>G (p.Thr1777Ser) c.4304C>G (p.Thr1435Ser) c.3885C>G c.3446C>G (p.Thr1149Ser) c.*1263C>G (n.*1263C>G) c.4599C>G c.5372C>G (p.Thr1791Ser) c.5369C>G (p.Thr1790Ser) c.5324C>G (p.Thr1775Ser) c.4448C>G (p.Thr1483Ser) c.4217C>G (p.Thr1406Ser) | |
10 | g.94298541C>T | CA5613337 | PLCE1 | c.4406C>T (p.Thr1469Ile) c.*1873C>T (n.*1873C>T) n.2065C>T n.749C>T c.*614C>T (n.*614C>T) c.4358C>T (p.Thr1453Ile) n.9538C>T n.3003C>T c.5198C>T (p.Thr1733Ile) c.5282C>T (p.Thr1761Ile) c.5330C>T (p.Thr1777Ile) c.4304C>T (p.Thr1435Ile) c.3885C>T c.3446C>T (p.Thr1149Ile) c.*1263C>T (n.*1263C>T) c.4599C>T c.5372C>T (p.Thr1791Ile) c.5369C>T (p.Thr1790Ile) c.5324C>T (p.Thr1775Ile) c.4448C>T (p.Thr1483Ile) c.4217C>T (p.Thr1406Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298542_94298543del | CA2789048720 | PLCE1 | c.4407_4408del (p.Gln1470AlafsTer?) c.*1874_*1875del (n.*1874_*1875del) n.2066_2067del n.750_751del c.*615_*616del (n.*615_*616del) c.4359_4360del (p.Gln1454AlafsTer?) n.9539_9540del n.3004_3005del c.5199_5200del (p.Gln1734AlafsTer?) c.5283_5284del (p.Gln1762AlafsTer?) c.5331_5332del (p.Gln1778AlafsTer?) c.4305_4306del (p.Gln1436AlafsTer?) c.3886_3887del c.3447_3448del (p.Gln1150AlafsTer?) c.*1264_*1265del (n.*1264_*1265del) c.4600_4601del c.5373_5374del (p.Gln1792AlafsTer?) c.5370_5371del (p.Gln1791AlafsTer?) c.5325_5326del (p.Gln1776AlafsTer?) c.4449_4450del (p.Gln1484AlafsTer?) c.4218_4219del (p.Gln1407AlafsTer?) | |
10 | g.94298542C>A | CA470986554 | PLCE1 | c.4407C>A (p.Thr1469=) c.*1874C>A (n.*1874C>A) n.2066C>A n.750C>A c.*615C>A (n.*615C>A) c.4359C>A (p.Thr1453=) n.9539C>A n.3004C>A c.5199C>A (p.Thr1733=) c.5283C>A (p.Thr1761=) c.5331C>A (p.Thr1777=) c.4305C>A (p.Thr1435=) c.3886C>A c.3447C>A (p.Thr1149=) c.*1264C>A (n.*1264C>A) c.4600C>A c.5373C>A (p.Thr1791=) c.5370C>A (p.Thr1790=) c.5325C>A (p.Thr1775=) c.4449C>A (p.Thr1483=) c.4218C>A (p.Thr1406=) | |
10 | g.94298542C= | CA1928998431 | PLCE1 | c.4407C= (p.Thr1469=) c.*1874C= (n.*1874C=) n.2066C= n.750C= c.*615C= (n.*615C=) c.4359C= (p.Thr1453=) n.9539C= n.3004C= c.5199C= (p.Thr1733=) c.5283C= (p.Thr1761=) c.5331C= (p.Thr1777=) c.4305C= (p.Thr1435=) c.3886C= c.3447C= (p.Thr1149=) c.*1264C= (n.*1264C=) c.4600C= c.5373C= (p.Thr1791=) c.5370C= (p.Thr1790=) c.5325C= (p.Thr1775=) c.4449C= (p.Thr1483=) c.4218C= (p.Thr1406=) | |
10 | g.94298542C>G | CA470986553 | PLCE1 | c.4407C>G (p.Thr1469=) c.*1874C>G (n.*1874C>G) n.2066C>G n.750C>G c.*615C>G (n.*615C>G) c.4359C>G (p.Thr1453=) n.9539C>G n.3004C>G c.5199C>G (p.Thr1733=) c.5283C>G (p.Thr1761=) c.5331C>G (p.Thr1777=) c.4305C>G (p.Thr1435=) c.3886C>G c.3447C>G (p.Thr1149=) c.*1264C>G (n.*1264C>G) c.4600C>G c.5373C>G (p.Thr1791=) c.5370C>G (p.Thr1790=) c.5325C>G (p.Thr1775=) c.4449C>G (p.Thr1483=) c.4218C>G (p.Thr1406=) | |
10 | g.94298542C>T | CA5613338 | PLCE1 | c.4407C>T (p.Thr1469=) c.*1874C>T (n.*1874C>T) n.2066C>T n.750C>T c.*615C>T (n.*615C>T) c.4359C>T (p.Thr1453=) n.9539C>T n.3004C>T c.5199C>T (p.Thr1733=) c.5283C>T (p.Thr1761=) c.5331C>T (p.Thr1777=) c.4305C>T (p.Thr1435=) c.3886C>T c.3447C>T (p.Thr1149=) c.*1264C>T (n.*1264C>T) c.4600C>T c.5373C>T (p.Thr1791=) c.5370C>T (p.Thr1790=) c.5325C>T (p.Thr1775=) c.4449C>T (p.Thr1483=) c.4218C>T (p.Thr1406=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298543C>A | CA377642000 | PLCE1 | c.4408C>A (p.Gln1470Lys) c.*1875C>A (n.*1875C>A) n.2067C>A n.751C>A c.*616C>A (n.*616C>A) c.4360C>A (p.Gln1454Lys) n.9540C>A n.3005C>A c.5200C>A (p.Gln1734Lys) c.5284C>A (p.Gln1762Lys) c.5332C>A (p.Gln1778Lys) c.4306C>A (p.Gln1436Lys) c.3887C>A c.3448C>A (p.Gln1150Lys) c.*1265C>A (n.*1265C>A) c.4601C>A c.5374C>A (p.Gln1792Lys) c.5371C>A (p.Gln1791Lys) c.5326C>A (p.Gln1776Lys) c.4450C>A (p.Gln1484Lys) c.4219C>A (p.Gln1407Lys) | |
10 | g.94298543C>G | CA377642001 | PLCE1 | c.4408C>G (p.Gln1470Glu) c.*1875C>G (n.*1875C>G) n.2067C>G n.751C>G c.*616C>G (n.*616C>G) c.4360C>G (p.Gln1454Glu) n.9540C>G n.3005C>G c.5200C>G (p.Gln1734Glu) c.5284C>G (p.Gln1762Glu) c.5332C>G (p.Gln1778Glu) c.4306C>G (p.Gln1436Glu) c.3887C>G c.3448C>G (p.Gln1150Glu) c.*1265C>G (n.*1265C>G) c.4601C>G c.5374C>G (p.Gln1792Glu) c.5371C>G (p.Gln1791Glu) c.5326C>G (p.Gln1776Glu) c.4450C>G (p.Gln1484Glu) c.4219C>G (p.Gln1407Glu) | |
10 | g.94298543C>T | CA377642002 | PLCE1 | c.4408C>T (p.Gln1470Ter) c.*1875C>T (n.*1875C>T) n.2067C>T n.751C>T c.*616C>T (n.*616C>T) c.4360C>T (p.Gln1454Ter) n.9540C>T n.3005C>T c.5200C>T (p.Gln1734Ter) c.5284C>T (p.Gln1762Ter) c.5332C>T (p.Gln1778Ter) c.4306C>T (p.Gln1436Ter) c.3887C>T c.3448C>T (p.Gln1150Ter) c.*1265C>T (n.*1265C>T) c.4601C>T c.5374C>T (p.Gln1792Ter) c.5371C>T (p.Gln1791Ter) c.5326C>T (p.Gln1776Ter) c.4450C>T (p.Gln1484Ter) c.4219C>T (p.Gln1407Ter) | |
10 | g.94298544A>C | CA377642003 | PLCE1 | c.4409A>C (p.Gln1470Pro) c.*1876A>C (n.*1876A>C) n.2068A>C n.752A>C c.*617A>C (n.*617A>C) c.4361A>C (p.Gln1454Pro) n.9541A>C n.3006A>C c.5201A>C (p.Gln1734Pro) c.5285A>C (p.Gln1762Pro) c.5333A>C (p.Gln1778Pro) c.4307A>C (p.Gln1436Pro) c.3888A>C c.3449A>C (p.Gln1150Pro) c.*1266A>C (n.*1266A>C) c.4602A>C c.5375A>C (p.Gln1792Pro) c.5372A>C (p.Gln1791Pro) c.5327A>C (p.Gln1776Pro) c.4451A>C (p.Gln1484Pro) c.4220A>C (p.Gln1407Pro) | |
10 | g.94298544A>G | CA377642004 | PLCE1 | c.4409A>G (p.Gln1470Arg) c.*1876A>G (n.*1876A>G) n.2068A>G n.752A>G c.*617A>G (n.*617A>G) c.4361A>G (p.Gln1454Arg) n.9541A>G n.3006A>G c.5201A>G (p.Gln1734Arg) c.5285A>G (p.Gln1762Arg) c.5333A>G (p.Gln1778Arg) c.4307A>G (p.Gln1436Arg) c.3888A>G c.3449A>G (p.Gln1150Arg) c.*1266A>G (n.*1266A>G) c.4602A>G c.5375A>G (p.Gln1792Arg) c.5372A>G (p.Gln1791Arg) c.5327A>G (p.Gln1776Arg) c.4451A>G (p.Gln1484Arg) c.4220A>G (p.Gln1407Arg) | |
10 | g.94298544A>T | CA377642005 | PLCE1 | c.4409A>T (p.Gln1470Leu) c.*1876A>T (n.*1876A>T) n.2068A>T n.752A>T c.*617A>T (n.*617A>T) c.4361A>T (p.Gln1454Leu) n.9541A>T n.3006A>T c.5201A>T (p.Gln1734Leu) c.5285A>T (p.Gln1762Leu) c.5333A>T (p.Gln1778Leu) c.4307A>T (p.Gln1436Leu) c.3888A>T c.3449A>T (p.Gln1150Leu) c.*1266A>T (n.*1266A>T) c.4602A>T c.5375A>T (p.Gln1792Leu) c.5372A>T (p.Gln1791Leu) c.5327A>T (p.Gln1776Leu) c.4451A>T (p.Gln1484Leu) c.4220A>T (p.Gln1407Leu) | |
10 | g.94298545G>A | CA470986555 | PLCE1 | c.4410G>A (p.Gln1470=) c.*1877G>A (n.*1877G>A) n.2069G>A n.753G>A c.*618G>A (n.*618G>A) c.4362G>A (p.Gln1454=) n.9542G>A n.3007G>A c.5202G>A (p.Gln1734=) c.5286G>A (p.Gln1762=) c.5334G>A (p.Gln1778=) c.4308G>A (p.Gln1436=) c.3889G>A c.3450G>A (p.Gln1150=) c.*1267G>A (n.*1267G>A) c.4603G>A c.5376G>A (p.Gln1792=) c.5373G>A (p.Gln1791=) c.5328G>A (p.Gln1776=) c.4452G>A (p.Gln1484=) c.4221G>A (p.Gln1407=) | |
10 | g.94298545G>C | CA5613339 | PLCE1 | c.4410G>C (p.Gln1470His) c.*1877G>C (n.*1877G>C) n.2069G>C n.753G>C c.*618G>C (n.*618G>C) c.4362G>C (p.Gln1454His) n.9542G>C n.3007G>C c.5202G>C (p.Gln1734His) c.5286G>C (p.Gln1762His) c.5334G>C (p.Gln1778His) c.4308G>C (p.Gln1436His) c.3889G>C c.3450G>C (p.Gln1150His) c.*1267G>C (n.*1267G>C) c.4603G>C c.5376G>C (p.Gln1792His) c.5373G>C (p.Gln1791His) c.5328G>C (p.Gln1776His) c.4452G>C (p.Gln1484His) c.4221G>C (p.Gln1407His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298545G= | CA1928998432 | PLCE1 | c.4410G= (p.Gln1470=) c.*1877G= (n.*1877G=) n.2069G= n.753G= c.*618G= (n.*618G=) c.4362G= (p.Gln1454=) n.9542G= n.3007G= c.5202G= (p.Gln1734=) c.5286G= (p.Gln1762=) c.5334G= (p.Gln1778=) c.4308G= (p.Gln1436=) c.3889G= c.3450G= (p.Gln1150=) c.*1267G= (n.*1267G=) c.4603G= c.5376G= (p.Gln1792=) c.5373G= (p.Gln1791=) c.5328G= (p.Gln1776=) c.4452G= (p.Gln1484=) c.4221G= (p.Gln1407=) | |
10 | g.94298545G>T | CA377642006 | PLCE1 | c.4410G>T (p.Gln1470His) c.*1877G>T (n.*1877G>T) n.2069G>T n.753G>T c.*618G>T (n.*618G>T) c.4362G>T (p.Gln1454His) n.9542G>T n.3007G>T c.5202G>T (p.Gln1734His) c.5286G>T (p.Gln1762His) c.5334G>T (p.Gln1778His) c.4308G>T (p.Gln1436His) c.3889G>T c.3450G>T (p.Gln1150His) c.*1267G>T (n.*1267G>T) c.4603G>T c.5376G>T (p.Gln1792His) c.5373G>T (p.Gln1791His) c.5328G>T (p.Gln1776His) c.4452G>T (p.Gln1484His) c.4221G>T (p.Gln1407His) | |
10 | g.94298546C>A | CA377642007 | PLCE1 | c.4411C>A (p.His1471Asn) c.*1878C>A (n.*1878C>A) n.2070C>A n.754C>A c.*619C>A (n.*619C>A) c.4363C>A (p.His1455Asn) n.9543C>A n.3008C>A c.5203C>A (p.His1735Asn) c.5287C>A (p.His1763Asn) c.5335C>A (p.His1779Asn) c.4309C>A (p.His1437Asn) c.3890C>A c.3451C>A (p.His1151Asn) c.*1268C>A (n.*1268C>A) c.4604C>A c.5377C>A (p.His1793Asn) c.5374C>A (p.His1792Asn) c.5329C>A (p.His1777Asn) c.4453C>A (p.His1485Asn) c.4222C>A (p.His1408Asn) | |
10 | g.94298546C>G | CA377642008 | PLCE1 | c.4411C>G (p.His1471Asp) c.*1878C>G (n.*1878C>G) n.2070C>G n.754C>G c.*619C>G (n.*619C>G) c.4363C>G (p.His1455Asp) n.9543C>G n.3008C>G c.5203C>G (p.His1735Asp) c.5287C>G (p.His1763Asp) c.5335C>G (p.His1779Asp) c.4309C>G (p.His1437Asp) c.3890C>G c.3451C>G (p.His1151Asp) c.*1268C>G (n.*1268C>G) c.4604C>G c.5377C>G (p.His1793Asp) c.5374C>G (p.His1792Asp) c.5329C>G (p.His1777Asp) c.4453C>G (p.His1485Asp) c.4222C>G (p.His1408Asp) | |
10 | g.94298546C>T | CA377642009 | PLCE1 | c.4411C>T (p.His1471Tyr) c.*1878C>T (n.*1878C>T) n.2070C>T n.754C>T c.*619C>T (n.*619C>T) c.4363C>T (p.His1455Tyr) n.9543C>T n.3008C>T c.5203C>T (p.His1735Tyr) c.5287C>T (p.His1763Tyr) c.5335C>T (p.His1779Tyr) c.4309C>T (p.His1437Tyr) c.3890C>T c.3451C>T (p.His1151Tyr) c.*1268C>T (n.*1268C>T) c.4604C>T c.5377C>T (p.His1793Tyr) c.5374C>T (p.His1792Tyr) c.5329C>T (p.His1777Tyr) c.4453C>T (p.His1485Tyr) c.4222C>T (p.His1408Tyr) | |
10 | g.94298546_94298551del | CA2789048721 | PLCE1 | c.4411_4416del (p.His1471_Thr1472del) c.*1878_*1883del (n.*1878_*1883del) n.2070_2075del n.754_759del c.*619_*624del (n.*619_*624del) c.4363_4368del (p.His1455_Thr1456del) n.9543_9548del n.3008_3013del c.5203_5208del (p.His1735_Thr1736del) c.5287_5292del (p.His1763_Thr1764del) c.5335_5340del (p.His1779_Thr1780del) c.4309_4314del (p.His1437_Thr1438del) c.3890_3895del c.3451_3456del (p.His1151_Thr1152del) c.*1268_*1273del (n.*1268_*1273del) c.4604_4609del c.5377_5382del (p.His1793_Thr1794del) c.5374_5379del (p.His1792_Thr1793del) c.5329_5334del (p.His1777_Thr1778del) c.4453_4458del (p.His1485_Thr1486del) c.4222_4227del (p.His1408_Thr1409del) | |
10 | g.94298547A>C | CA377642010 | PLCE1 | c.4412A>C (p.His1471Pro) c.*1879A>C (n.*1879A>C) n.2071A>C n.755A>C c.*620A>C (n.*620A>C) c.4364A>C (p.His1455Pro) n.9544A>C n.3009A>C c.5204A>C (p.His1735Pro) c.5288A>C (p.His1763Pro) c.5336A>C (p.His1779Pro) c.4310A>C (p.His1437Pro) c.3891A>C c.3452A>C (p.His1151Pro) c.*1269A>C (n.*1269A>C) c.4605A>C c.5378A>C (p.His1793Pro) c.5375A>C (p.His1792Pro) c.5330A>C (p.His1777Pro) c.4454A>C (p.His1485Pro) c.4223A>C (p.His1408Pro) | |
10 | g.94298547A>G | CA377642011 | PLCE1 | c.4412A>G (p.His1471Arg) c.*1879A>G (n.*1879A>G) n.2071A>G n.755A>G c.*620A>G (n.*620A>G) c.4364A>G (p.His1455Arg) n.9544A>G n.3009A>G c.5204A>G (p.His1735Arg) c.5288A>G (p.His1763Arg) c.5336A>G (p.His1779Arg) c.4310A>G (p.His1437Arg) c.3891A>G c.3452A>G (p.His1151Arg) c.*1269A>G (n.*1269A>G) c.4605A>G c.5378A>G (p.His1793Arg) c.5375A>G (p.His1792Arg) c.5330A>G (p.His1777Arg) c.4454A>G (p.His1485Arg) c.4223A>G (p.His1408Arg) | |
10 | g.94298547A>T | CA377642012 | PLCE1 | c.4412A>T (p.His1471Leu) c.*1879A>T (n.*1879A>T) n.2071A>T n.755A>T c.*620A>T (n.*620A>T) c.4364A>T (p.His1455Leu) n.9544A>T n.3009A>T c.5204A>T (p.His1735Leu) c.5288A>T (p.His1763Leu) c.5336A>T (p.His1779Leu) c.4310A>T (p.His1437Leu) c.3891A>T c.3452A>T (p.His1151Leu) c.*1269A>T (n.*1269A>T) c.4605A>T c.5378A>T (p.His1793Leu) c.5375A>T (p.His1792Leu) c.5330A>T (p.His1777Leu) c.4454A>T (p.His1485Leu) c.4223A>T (p.His1408Leu) | |
10 | g.94298548C>A | CA377642013 | PLCE1 | c.4413C>A (p.His1471Gln) c.*1880C>A (n.*1880C>A) n.2072C>A n.756C>A c.*621C>A (n.*621C>A) c.4365C>A (p.His1455Gln) n.9545C>A n.3010C>A c.5205C>A (p.His1735Gln) c.5289C>A (p.His1763Gln) c.5337C>A (p.His1779Gln) c.4311C>A (p.His1437Gln) c.3892C>A c.3453C>A (p.His1151Gln) c.*1270C>A (n.*1270C>A) c.4606C>A c.5379C>A (p.His1793Gln) c.5376C>A (p.His1792Gln) c.5331C>A (p.His1777Gln) c.4455C>A (p.His1485Gln) c.4224C>A (p.His1408Gln) | |
10 | g.94298548C= | CA1928998433 | PLCE1 | c.4413C= (p.His1471=) c.*1880C= (n.*1880C=) n.2072C= n.756C= c.*621C= (n.*621C=) c.4365C= (p.His1455=) n.9545C= n.3010C= c.5205C= (p.His1735=) c.5289C= (p.His1763=) c.5337C= (p.His1779=) c.4311C= (p.His1437=) c.3892C= c.3453C= (p.His1151=) c.*1270C= (n.*1270C=) c.4606C= c.5379C= (p.His1793=) c.5376C= (p.His1792=) c.5331C= (p.His1777=) c.4455C= (p.His1485=) c.4224C= (p.His1408=) | |
10 | g.94298548C>G | CA377642014 | PLCE1 | c.4413C>G (p.His1471Gln) c.*1880C>G (n.*1880C>G) n.2072C>G n.756C>G c.*621C>G (n.*621C>G) c.4365C>G (p.His1455Gln) n.9545C>G n.3010C>G c.5205C>G (p.His1735Gln) c.5289C>G (p.His1763Gln) c.5337C>G (p.His1779Gln) c.4311C>G (p.His1437Gln) c.3892C>G c.3453C>G (p.His1151Gln) c.*1270C>G (n.*1270C>G) c.4606C>G c.5379C>G (p.His1793Gln) c.5376C>G (p.His1792Gln) c.5331C>G (p.His1777Gln) c.4455C>G (p.His1485Gln) c.4224C>G (p.His1408Gln) | |
10 | g.94298548C>T | CA470986557 | PLCE1 | c.4413C>T (p.His1471=) c.*1880C>T (n.*1880C>T) n.2072C>T n.756C>T c.*621C>T (n.*621C>T) c.4365C>T (p.His1455=) n.9545C>T n.3010C>T c.5205C>T (p.His1735=) c.5289C>T (p.His1763=) c.5337C>T (p.His1779=) c.4311C>T (p.His1437=) c.3892C>T c.3453C>T (p.His1151=) c.*1270C>T (n.*1270C>T) c.4606C>T c.5379C>T (p.His1793=) c.5376C>T (p.His1792=) c.5331C>T (p.His1777=) c.4455C>T (p.His1485=) c.4224C>T (p.His1408=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298549A>C | CA377642015 | PLCE1 | c.4414A>C (p.Thr1472Pro) c.*1881A>C (n.*1881A>C) n.2073A>C n.757A>C c.*622A>C (n.*622A>C) c.4366A>C (p.Thr1456Pro) n.9546A>C n.3011A>C c.5206A>C (p.Thr1736Pro) c.5290A>C (p.Thr1764Pro) c.5338A>C (p.Thr1780Pro) c.4312A>C (p.Thr1438Pro) c.3893A>C c.3454A>C (p.Thr1152Pro) c.*1271A>C (n.*1271A>C) c.4607A>C c.5380A>C (p.Thr1794Pro) c.5377A>C (p.Thr1793Pro) c.5332A>C (p.Thr1778Pro) c.4456A>C (p.Thr1486Pro) c.4225A>C (p.Thr1409Pro) | |
10 | g.94298549A>G | CA377642016 | PLCE1 | c.4414A>G (p.Thr1472Ala) c.*1881A>G (n.*1881A>G) n.2073A>G n.757A>G c.*622A>G (n.*622A>G) c.4366A>G (p.Thr1456Ala) n.9546A>G n.3011A>G c.5206A>G (p.Thr1736Ala) c.5290A>G (p.Thr1764Ala) c.5338A>G (p.Thr1780Ala) c.4312A>G (p.Thr1438Ala) c.3893A>G c.3454A>G (p.Thr1152Ala) c.*1271A>G (n.*1271A>G) c.4607A>G c.5380A>G (p.Thr1794Ala) c.5377A>G (p.Thr1793Ala) c.5332A>G (p.Thr1778Ala) c.4456A>G (p.Thr1486Ala) c.4225A>G (p.Thr1409Ala) | |
10 | g.94298549A>T | CA377642017 | PLCE1 | c.4414A>T (p.Thr1472Ser) c.*1881A>T (n.*1881A>T) n.2073A>T n.757A>T c.*622A>T (n.*622A>T) c.4366A>T (p.Thr1456Ser) n.9546A>T n.3011A>T c.5206A>T (p.Thr1736Ser) c.5290A>T (p.Thr1764Ser) c.5338A>T (p.Thr1780Ser) c.4312A>T (p.Thr1438Ser) c.3893A>T c.3454A>T (p.Thr1152Ser) c.*1271A>T (n.*1271A>T) c.4607A>T c.5380A>T (p.Thr1794Ser) c.5377A>T (p.Thr1793Ser) c.5332A>T (p.Thr1778Ser) c.4456A>T (p.Thr1486Ser) c.4225A>T (p.Thr1409Ser) | |
10 | g.94298550C>A | CA377642018 | PLCE1 | c.4415C>A (p.Thr1472Asn) c.*1882C>A (n.*1882C>A) n.2074C>A n.758C>A c.*623C>A (n.*623C>A) c.4367C>A (p.Thr1456Asn) n.9547C>A n.3012C>A c.5207C>A (p.Thr1736Asn) c.5291C>A (p.Thr1764Asn) c.5339C>A (p.Thr1780Asn) c.4313C>A (p.Thr1438Asn) c.3894C>A c.3455C>A (p.Thr1152Asn) c.*1272C>A (n.*1272C>A) c.4608C>A c.5381C>A (p.Thr1794Asn) c.5378C>A (p.Thr1793Asn) c.5333C>A (p.Thr1778Asn) c.4457C>A (p.Thr1486Asn) c.4226C>A (p.Thr1409Asn) | dbSNP |
10 | g.94298550C= | CA1928998434 | PLCE1 | c.4415C= (p.Thr1472=) c.*1882C= (n.*1882C=) n.2074C= n.758C= c.*623C= (n.*623C=) c.4367C= (p.Thr1456=) n.9547C= n.3012C= c.5207C= (p.Thr1736=) c.5291C= (p.Thr1764=) c.5339C= (p.Thr1780=) c.4313C= (p.Thr1438=) c.3894C= c.3455C= (p.Thr1152=) c.*1272C= (n.*1272C=) c.4608C= c.5381C= (p.Thr1794=) c.5378C= (p.Thr1793=) c.5333C= (p.Thr1778=) c.4457C= (p.Thr1486=) c.4226C= (p.Thr1409=) | |
10 | g.94298550C>G | CA377642019 | PLCE1 | c.4415C>G (p.Thr1472Ser) c.*1882C>G (n.*1882C>G) n.2074C>G n.758C>G c.*623C>G (n.*623C>G) c.4367C>G (p.Thr1456Ser) n.9547C>G n.3012C>G c.5207C>G (p.Thr1736Ser) c.5291C>G (p.Thr1764Ser) c.5339C>G (p.Thr1780Ser) c.4313C>G (p.Thr1438Ser) c.3894C>G c.3455C>G (p.Thr1152Ser) c.*1272C>G (n.*1272C>G) c.4608C>G c.5381C>G (p.Thr1794Ser) c.5378C>G (p.Thr1793Ser) c.5333C>G (p.Thr1778Ser) c.4457C>G (p.Thr1486Ser) c.4226C>G (p.Thr1409Ser) | |
10 | g.94298550C>T | CA5613340 | PLCE1 | c.4415C>T (p.Thr1472Ile) c.*1882C>T (n.*1882C>T) n.2074C>T n.758C>T c.*623C>T (n.*623C>T) c.4367C>T (p.Thr1456Ile) n.9547C>T n.3012C>T c.5207C>T (p.Thr1736Ile) c.5291C>T (p.Thr1764Ile) c.5339C>T (p.Thr1780Ile) c.4313C>T (p.Thr1438Ile) c.3894C>T c.3455C>T (p.Thr1152Ile) c.*1272C>T (n.*1272C>T) c.4608C>T c.5381C>T (p.Thr1794Ile) c.5378C>T (p.Thr1793Ile) c.5333C>T (p.Thr1778Ile) c.4457C>T (p.Thr1486Ile) c.4226C>T (p.Thr1409Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298551C>A | CA470986559 | PLCE1 | c.4416C>A (p.Thr1472=) c.*1883C>A (n.*1883C>A) n.2075C>A n.759C>A c.*624C>A (n.*624C>A) c.4368C>A (p.Thr1456=) n.9548C>A n.3013C>A c.5208C>A (p.Thr1736=) c.5292C>A (p.Thr1764=) c.5340C>A (p.Thr1780=) c.4314C>A (p.Thr1438=) c.3895C>A c.3456C>A (p.Thr1152=) c.*1273C>A (n.*1273C>A) c.4609C>A c.5382C>A (p.Thr1794=) c.5379C>A (p.Thr1793=) c.5334C>A (p.Thr1778=) c.4458C>A (p.Thr1486=) c.4227C>A (p.Thr1409=) | dbSNP |
10 | g.94298551C= | CA1928998435 | PLCE1 | c.4416C= (p.Thr1472=) c.*1883C= (n.*1883C=) n.2075C= n.759C= c.*624C= (n.*624C=) c.4368C= (p.Thr1456=) n.9548C= n.3013C= c.5208C= (p.Thr1736=) c.5292C= (p.Thr1764=) c.5340C= (p.Thr1780=) c.4314C= (p.Thr1438=) c.3895C= c.3456C= (p.Thr1152=) c.*1273C= (n.*1273C=) c.4609C= c.5382C= (p.Thr1794=) c.5379C= (p.Thr1793=) c.5334C= (p.Thr1778=) c.4458C= (p.Thr1486=) c.4227C= (p.Thr1409=) | |
10 | g.94298551C>G | CA470986560 | PLCE1 | c.4416C>G (p.Thr1472=) c.*1883C>G (n.*1883C>G) n.2075C>G n.759C>G c.*624C>G (n.*624C>G) c.4368C>G (p.Thr1456=) n.9548C>G n.3013C>G c.5208C>G (p.Thr1736=) c.5292C>G (p.Thr1764=) c.5340C>G (p.Thr1780=) c.4314C>G (p.Thr1438=) c.3895C>G c.3456C>G (p.Thr1152=) c.*1273C>G (n.*1273C>G) c.4609C>G c.5382C>G (p.Thr1794=) c.5379C>G (p.Thr1793=) c.5334C>G (p.Thr1778=) c.4458C>G (p.Thr1486=) c.4227C>G (p.Thr1409=) | |
10 | g.94298551C>T | CA5613341 | PLCE1 | c.4416C>T (p.Thr1472=) c.*1883C>T (n.*1883C>T) n.2075C>T n.759C>T c.*624C>T (n.*624C>T) c.4368C>T (p.Thr1456=) n.9548C>T n.3013C>T c.5208C>T (p.Thr1736=) c.5292C>T (p.Thr1764=) c.5340C>T (p.Thr1780=) c.4314C>T (p.Thr1438=) c.3895C>T c.3456C>T (p.Thr1152=) c.*1273C>T (n.*1273C>T) c.4609C>T c.5382C>T (p.Thr1794=) c.5379C>T (p.Thr1793=) c.5334C>T (p.Thr1778=) c.4458C>T (p.Thr1486=) c.4227C>T (p.Thr1409=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298552G>A | CA5613342 | PLCE1 | c.4417G>A (p.Ala1473Thr) c.*1884G>A (n.*1884G>A) n.2076G>A n.760G>A c.*625G>A (n.*625G>A) c.4369G>A (p.Ala1457Thr) n.9549G>A n.3014G>A c.5209G>A (p.Ala1737Thr) c.5293G>A (p.Ala1765Thr) c.5341G>A (p.Ala1781Thr) c.4315G>A (p.Ala1439Thr) c.3896G>A c.3457G>A (p.Ala1153Thr) c.*1274G>A (n.*1274G>A) c.4610G>A c.5383G>A (p.Ala1795Thr) c.5380G>A (p.Ala1794Thr) c.5335G>A (p.Ala1779Thr) c.4459G>A (p.Ala1487Thr) c.4228G>A (p.Ala1410Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298552G>C | CA377642020 | PLCE1 | c.4417G>C (p.Ala1473Pro) c.*1884G>C (n.*1884G>C) n.2076G>C n.760G>C c.*625G>C (n.*625G>C) c.4369G>C (p.Ala1457Pro) n.9549G>C n.3014G>C c.5209G>C (p.Ala1737Pro) c.5293G>C (p.Ala1765Pro) c.5341G>C (p.Ala1781Pro) c.4315G>C (p.Ala1439Pro) c.3896G>C c.3457G>C (p.Ala1153Pro) c.*1274G>C (n.*1274G>C) c.4610G>C c.5383G>C (p.Ala1795Pro) c.5380G>C (p.Ala1794Pro) c.5335G>C (p.Ala1779Pro) c.4459G>C (p.Ala1487Pro) c.4228G>C (p.Ala1410Pro) | |
10 | g.94298552G= | CA1928998436 | PLCE1 | c.4417G= (p.Ala1473=) c.*1884G= (n.*1884G=) n.2076G= n.760G= c.*625G= (n.*625G=) c.4369G= (p.Ala1457=) n.9549G= n.3014G= c.5209G= (p.Ala1737=) c.5293G= (p.Ala1765=) c.5341G= (p.Ala1781=) c.4315G= (p.Ala1439=) c.3896G= c.3457G= (p.Ala1153=) c.*1274G= (n.*1274G=) c.4610G= c.5383G= (p.Ala1795=) c.5380G= (p.Ala1794=) c.5335G= (p.Ala1779=) c.4459G= (p.Ala1487=) c.4228G= (p.Ala1410=) | |
10 | g.94298552G>T | CA377642021 | PLCE1 | c.4417G>T (p.Ala1473Ser) c.*1884G>T (n.*1884G>T) n.2076G>T n.760G>T c.*625G>T (n.*625G>T) c.4369G>T (p.Ala1457Ser) n.9549G>T n.3014G>T c.5209G>T (p.Ala1737Ser) c.5293G>T (p.Ala1765Ser) c.5341G>T (p.Ala1781Ser) c.4315G>T (p.Ala1439Ser) c.3896G>T c.3457G>T (p.Ala1153Ser) c.*1274G>T (n.*1274G>T) c.4610G>T c.5383G>T (p.Ala1795Ser) c.5380G>T (p.Ala1794Ser) c.5335G>T (p.Ala1779Ser) c.4459G>T (p.Ala1487Ser) c.4228G>T (p.Ala1410Ser) | dbSNP gnomAD v4 |
10 | g.94298553C>A | CA377642022 | PLCE1 | c.4418C>A (p.Ala1473Asp) c.*1885C>A (n.*1885C>A) n.2077C>A n.761C>A c.*626C>A (n.*626C>A) c.4370C>A (p.Ala1457Asp) n.9550C>A n.3015C>A c.5210C>A (p.Ala1737Asp) c.5294C>A (p.Ala1765Asp) c.5342C>A (p.Ala1781Asp) c.4316C>A (p.Ala1439Asp) c.3897C>A c.3458C>A (p.Ala1153Asp) c.*1275C>A (n.*1275C>A) c.4611C>A c.5384C>A (p.Ala1795Asp) c.5381C>A (p.Ala1794Asp) c.5336C>A (p.Ala1779Asp) c.4460C>A (p.Ala1487Asp) c.4229C>A (p.Ala1410Asp) | |
10 | g.94298553C= | CA1928998437 | PLCE1 | c.4418C= (p.Ala1473=) c.*1885C= (n.*1885C=) n.2077C= n.761C= c.*626C= (n.*626C=) c.4370C= (p.Ala1457=) n.9550C= n.3015C= c.5210C= (p.Ala1737=) c.5294C= (p.Ala1765=) c.5342C= (p.Ala1781=) c.4316C= (p.Ala1439=) c.3897C= c.3458C= (p.Ala1153=) c.*1275C= (n.*1275C=) c.4611C= c.5384C= (p.Ala1795=) c.5381C= (p.Ala1794=) c.5336C= (p.Ala1779=) c.4460C= (p.Ala1487=) c.4229C= (p.Ala1410=) | |
10 | g.94298553C>G | CA377642023 | PLCE1 | c.4418C>G (p.Ala1473Gly) c.*1885C>G (n.*1885C>G) n.2077C>G n.761C>G c.*626C>G (n.*626C>G) c.4370C>G (p.Ala1457Gly) n.9550C>G n.3015C>G c.5210C>G (p.Ala1737Gly) c.5294C>G (p.Ala1765Gly) c.5342C>G (p.Ala1781Gly) c.4316C>G (p.Ala1439Gly) c.3897C>G c.3458C>G (p.Ala1153Gly) c.*1275C>G (n.*1275C>G) c.4611C>G c.5384C>G (p.Ala1795Gly) c.5381C>G (p.Ala1794Gly) c.5336C>G (p.Ala1779Gly) c.4460C>G (p.Ala1487Gly) c.4229C>G (p.Ala1410Gly) | |
10 | g.94298553C>T | CA377642024 | PLCE1 | c.4418C>T (p.Ala1473Val) c.*1885C>T (n.*1885C>T) n.2077C>T n.761C>T c.*626C>T (n.*626C>T) c.4370C>T (p.Ala1457Val) n.9550C>T n.3015C>T c.5210C>T (p.Ala1737Val) c.5294C>T (p.Ala1765Val) c.5342C>T (p.Ala1781Val) c.4316C>T (p.Ala1439Val) c.3897C>T c.3458C>T (p.Ala1153Val) c.*1275C>T (n.*1275C>T) c.4611C>T c.5384C>T (p.Ala1795Val) c.5381C>T (p.Ala1794Val) c.5336C>T (p.Ala1779Val) c.4460C>T (p.Ala1487Val) c.4229C>T (p.Ala1410Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298554C>A | CA470986561 | PLCE1 | c.4419C>A (p.Ala1473=) c.*1886C>A (n.*1886C>A) n.2078C>A n.762C>A c.*627C>A (n.*627C>A) c.4371C>A (p.Ala1457=) n.9551C>A n.3016C>A c.5211C>A (p.Ala1737=) c.5295C>A (p.Ala1765=) c.5343C>A (p.Ala1781=) c.4317C>A (p.Ala1439=) c.3898C>A c.3459C>A (p.Ala1153=) c.*1276C>A (n.*1276C>A) c.4612C>A c.5385C>A (p.Ala1795=) c.5382C>A (p.Ala1794=) c.5337C>A (p.Ala1779=) c.4461C>A (p.Ala1487=) c.4230C>A (p.Ala1410=) | |
10 | g.94298554C>G | CA470986562 | PLCE1 | c.4419C>G (p.Ala1473=) c.*1886C>G (n.*1886C>G) n.2078C>G n.762C>G c.*627C>G (n.*627C>G) c.4371C>G (p.Ala1457=) n.9551C>G n.3016C>G c.5211C>G (p.Ala1737=) c.5295C>G (p.Ala1765=) c.5343C>G (p.Ala1781=) c.4317C>G (p.Ala1439=) c.3898C>G c.3459C>G (p.Ala1153=) c.*1276C>G (n.*1276C>G) c.4612C>G c.5385C>G (p.Ala1795=) c.5382C>G (p.Ala1794=) c.5337C>G (p.Ala1779=) c.4461C>G (p.Ala1487=) c.4230C>G (p.Ala1410=) | |
10 | g.94298554C>T | CA470986563 | PLCE1 | c.4419C>T (p.Ala1473=) c.*1886C>T (n.*1886C>T) n.2078C>T n.762C>T c.*627C>T (n.*627C>T) c.4371C>T (p.Ala1457=) n.9551C>T n.3016C>T c.5211C>T (p.Ala1737=) c.5295C>T (p.Ala1765=) c.5343C>T (p.Ala1781=) c.4317C>T (p.Ala1439=) c.3898C>T c.3459C>T (p.Ala1153=) c.*1276C>T (n.*1276C>T) c.4612C>T c.5385C>T (p.Ala1795=) c.5382C>T (p.Ala1794=) c.5337C>T (p.Ala1779=) c.4461C>T (p.Ala1487=) c.4230C>T (p.Ala1410=) | |
10 | g.94298555T>A | CA377642025 | PLCE1 | c.4420T>A (p.Cys1474Ser) c.*1887T>A (n.*1887T>A) n.2079T>A n.763T>A c.*628T>A (n.*628T>A) c.4372T>A (p.Cys1458Ser) n.9552T>A n.3017T>A c.5212T>A (p.Cys1738Ser) c.5296T>A (p.Cys1766Ser) c.5344T>A (p.Cys1782Ser) c.4318T>A (p.Cys1440Ser) c.3899T>A c.3460T>A (p.Cys1154Ser) c.*1277T>A (n.*1277T>A) c.4613T>A c.5386T>A (p.Cys1796Ser) c.5383T>A (p.Cys1795Ser) c.5338T>A (p.Cys1780Ser) c.4462T>A (p.Cys1488Ser) c.4231T>A (p.Cys1411Ser) | |
10 | g.94298555T>C | CA377642027 | PLCE1 | c.4420T>C (p.Cys1474Arg) c.*1887T>C (n.*1887T>C) n.2079T>C n.763T>C c.*628T>C (n.*628T>C) c.4372T>C (p.Cys1458Arg) n.9552T>C n.3017T>C c.5212T>C (p.Cys1738Arg) c.5296T>C (p.Cys1766Arg) c.5344T>C (p.Cys1782Arg) c.4318T>C (p.Cys1440Arg) c.3899T>C c.3460T>C (p.Cys1154Arg) c.*1277T>C (n.*1277T>C) c.4613T>C c.5386T>C (p.Cys1796Arg) c.5383T>C (p.Cys1795Arg) c.5338T>C (p.Cys1780Arg) c.4462T>C (p.Cys1488Arg) c.4231T>C (p.Cys1411Arg) | |
10 | g.94298555T>G | CA377642026 | PLCE1 | c.4420T>G (p.Cys1474Gly) c.*1887T>G (n.*1887T>G) n.2079T>G n.763T>G c.*628T>G (n.*628T>G) c.4372T>G (p.Cys1458Gly) n.9552T>G n.3017T>G c.5212T>G (p.Cys1738Gly) c.5296T>G (p.Cys1766Gly) c.5344T>G (p.Cys1782Gly) c.4318T>G (p.Cys1440Gly) c.3899T>G c.3460T>G (p.Cys1154Gly) c.*1277T>G (n.*1277T>G) c.4613T>G c.5386T>G (p.Cys1796Gly) c.5383T>G (p.Cys1795Gly) c.5338T>G (p.Cys1780Gly) c.4462T>G (p.Cys1488Gly) c.4231T>G (p.Cys1411Gly) | |
10 | g.94298556G>A | CA377642028 | PLCE1 | c.4421G>A (p.Cys1474Tyr) c.*1888G>A (n.*1888G>A) n.2080G>A n.764G>A c.*629G>A (n.*629G>A) c.4373G>A (p.Cys1458Tyr) n.9553G>A n.3018G>A c.5213G>A (p.Cys1738Tyr) c.5297G>A (p.Cys1766Tyr) c.5345G>A (p.Cys1782Tyr) c.4319G>A (p.Cys1440Tyr) c.3900G>A c.3461G>A (p.Cys1154Tyr) c.*1278G>A (n.*1278G>A) c.4614G>A c.5387G>A (p.Cys1796Tyr) c.5384G>A (p.Cys1795Tyr) c.5339G>A (p.Cys1780Tyr) c.4463G>A (p.Cys1488Tyr) c.4232G>A (p.Cys1411Tyr) | gnomAD v4 |
10 | g.94298556G>C | CA377642029 | PLCE1 | c.4421G>C (p.Cys1474Ser) c.*1888G>C (n.*1888G>C) n.2080G>C n.764G>C c.*629G>C (n.*629G>C) c.4373G>C (p.Cys1458Ser) n.9553G>C n.3018G>C c.5213G>C (p.Cys1738Ser) c.5297G>C (p.Cys1766Ser) c.5345G>C (p.Cys1782Ser) c.4319G>C (p.Cys1440Ser) c.3900G>C c.3461G>C (p.Cys1154Ser) c.*1278G>C (n.*1278G>C) c.4614G>C c.5387G>C (p.Cys1796Ser) c.5384G>C (p.Cys1795Ser) c.5339G>C (p.Cys1780Ser) c.4463G>C (p.Cys1488Ser) c.4232G>C (p.Cys1411Ser) | |
10 | g.94298556G>T | CA377642030 | PLCE1 | c.4421G>T (p.Cys1474Phe) c.*1888G>T (n.*1888G>T) n.2080G>T n.764G>T c.*629G>T (n.*629G>T) c.4373G>T (p.Cys1458Phe) n.9553G>T n.3018G>T c.5213G>T (p.Cys1738Phe) c.5297G>T (p.Cys1766Phe) c.5345G>T (p.Cys1782Phe) c.4319G>T (p.Cys1440Phe) c.3900G>T c.3461G>T (p.Cys1154Phe) c.*1278G>T (n.*1278G>T) c.4614G>T c.5387G>T (p.Cys1796Phe) c.5384G>T (p.Cys1795Phe) c.5339G>T (p.Cys1780Phe) c.4463G>T (p.Cys1488Phe) c.4232G>T (p.Cys1411Phe) | |
10 | g.94298556_94298557insGG | CA2789048722 | PLCE1 | c.4421_4422insGG (p.Cys1474TrpfsTer5) c.*1888_*1889insGG (n.*1888_*1889insGG) n.2080_2081insGG n.764_765insGG c.*629_*630insGG (n.*629_*630insGG) c.4373_4374insGG (p.Cys1458TrpfsTer5) n.9553_9554insGG n.3018_3019insGG c.5213_5214insGG (p.Cys1738TrpfsTer5) c.5297_5298insGG (p.Cys1766TrpfsTer5) c.5345_5346insGG (p.Cys1782TrpfsTer5) c.4319_4320insGG (p.Cys1440TrpfsTer5) c.3900_3901insGG c.3461_3462insGG (p.Cys1154TrpfsTer5) c.*1278_*1279insGG (n.*1278_*1279insGG) c.4614_4615insGG c.5387_5388insGG (p.Cys1796TrpfsTer5) c.5384_5385insGG (p.Cys1795TrpfsTer5) c.5339_5340insGG (p.Cys1780TrpfsTer5) c.4463_4464insGG (p.Cys1488TrpfsTer5) c.4232_4233insGG (p.Cys1411TrpfsTer5) | |
10 | g.94298557T>A | CA377642031 | PLCE1 | c.4422T>A (p.Cys1474Ter) c.*1889T>A (n.*1889T>A) n.2081T>A n.765T>A c.*630T>A (n.*630T>A) c.4374T>A (p.Cys1458Ter) n.9554T>A n.3019T>A c.5214T>A (p.Cys1738Ter) c.5298T>A (p.Cys1766Ter) c.5346T>A (p.Cys1782Ter) c.4320T>A (p.Cys1440Ter) c.3901T>A c.3462T>A (p.Cys1154Ter) c.*1279T>A (n.*1279T>A) c.4615T>A c.5388T>A (p.Cys1796Ter) c.5385T>A (p.Cys1795Ter) c.5340T>A (p.Cys1780Ter) c.4464T>A (p.Cys1488Ter) c.4233T>A (p.Cys1411Ter) | |
10 | g.94298557T>C | CA470986564 | PLCE1 | c.4422T>C (p.Cys1474=) c.*1889T>C (n.*1889T>C) n.2081T>C n.765T>C c.*630T>C (n.*630T>C) c.4374T>C (p.Cys1458=) n.9554T>C n.3019T>C c.5214T>C (p.Cys1738=) c.5298T>C (p.Cys1766=) c.5346T>C (p.Cys1782=) c.4320T>C (p.Cys1440=) c.3901T>C c.3462T>C (p.Cys1154=) c.*1279T>C (n.*1279T>C) c.4615T>C c.5388T>C (p.Cys1796=) c.5385T>C (p.Cys1795=) c.5340T>C (p.Cys1780=) c.4464T>C (p.Cys1488=) c.4233T>C (p.Cys1411=) | |
10 | g.94298557T>G | CA377642032 | PLCE1 | c.4422T>G (p.Cys1474Trp) c.*1889T>G (n.*1889T>G) n.2081T>G n.765T>G c.*630T>G (n.*630T>G) c.4374T>G (p.Cys1458Trp) n.9554T>G n.3019T>G c.5214T>G (p.Cys1738Trp) c.5298T>G (p.Cys1766Trp) c.5346T>G (p.Cys1782Trp) c.4320T>G (p.Cys1440Trp) c.3901T>G c.3462T>G (p.Cys1154Trp) c.*1279T>G (n.*1279T>G) c.4615T>G c.5388T>G (p.Cys1796Trp) c.5385T>G (p.Cys1795Trp) c.5340T>G (p.Cys1780Trp) c.4464T>G (p.Cys1488Trp) c.4233T>G (p.Cys1411Trp) | |
10 | g.94298558C>A | CA377642033 | PLCE1 | c.4423C>A (p.Gln1475Lys) c.*1890C>A (n.*1890C>A) n.2082C>A n.766C>A c.*631C>A (n.*631C>A) c.4375C>A (p.Gln1459Lys) n.9555C>A n.3020C>A c.5215C>A (p.Gln1739Lys) c.5299C>A (p.Gln1767Lys) c.5347C>A (p.Gln1783Lys) c.4321C>A (p.Gln1441Lys) c.3902C>A c.3463C>A (p.Gln1155Lys) c.*1280C>A (n.*1280C>A) c.4616C>A c.5389C>A (p.Gln1797Lys) c.5386C>A (p.Gln1796Lys) c.5341C>A (p.Gln1781Lys) c.4465C>A (p.Gln1489Lys) c.4234C>A (p.Gln1412Lys) | |
10 | g.94298558C>G | CA377642034 | PLCE1 | c.4423C>G (p.Gln1475Glu) c.*1890C>G (n.*1890C>G) n.2082C>G n.766C>G c.*631C>G (n.*631C>G) c.4375C>G (p.Gln1459Glu) n.9555C>G n.3020C>G c.5215C>G (p.Gln1739Glu) c.5299C>G (p.Gln1767Glu) c.5347C>G (p.Gln1783Glu) c.4321C>G (p.Gln1441Glu) c.3902C>G c.3463C>G (p.Gln1155Glu) c.*1280C>G (n.*1280C>G) c.4616C>G c.5389C>G (p.Gln1797Glu) c.5386C>G (p.Gln1796Glu) c.5341C>G (p.Gln1781Glu) c.4465C>G (p.Gln1489Glu) c.4234C>G (p.Gln1412Glu) | gnomAD v4 |
10 | g.94298558C>T | CA377642035 | PLCE1 | c.4423C>T (p.Gln1475Ter) c.*1890C>T (n.*1890C>T) n.2082C>T n.766C>T c.*631C>T (n.*631C>T) c.4375C>T (p.Gln1459Ter) n.9555C>T n.3020C>T c.5215C>T (p.Gln1739Ter) c.5299C>T (p.Gln1767Ter) c.5347C>T (p.Gln1783Ter) c.4321C>T (p.Gln1441Ter) c.3902C>T c.3463C>T (p.Gln1155Ter) c.*1280C>T (n.*1280C>T) c.4616C>T c.5389C>T (p.Gln1797Ter) c.5386C>T (p.Gln1796Ter) c.5341C>T (p.Gln1781Ter) c.4465C>T (p.Gln1489Ter) c.4234C>T (p.Gln1412Ter) | |
10 | g.94298559A= | CA1928998438 | PLCE1 | c.4424A= (p.Gln1475=) c.*1891A= (n.*1891A=) n.2083A= n.767A= c.*632A= (n.*632A=) c.4376A= (p.Gln1459=) n.9556A= n.3021A= c.5216A= (p.Gln1739=) c.5300A= (p.Gln1767=) c.5348A= (p.Gln1783=) c.4322A= (p.Gln1441=) c.3903A= c.3464A= (p.Gln1155=) c.*1281A= (n.*1281A=) c.4617A= c.5390A= (p.Gln1797=) c.5387A= (p.Gln1796=) c.5342A= (p.Gln1781=) c.4466A= (p.Gln1489=) c.4235A= (p.Gln1412=) | |
10 | g.94298559A>C | CA377642036 | PLCE1 | c.4424A>C (p.Gln1475Pro) c.*1891A>C (n.*1891A>C) n.2083A>C n.767A>C c.*632A>C (n.*632A>C) c.4376A>C (p.Gln1459Pro) n.9556A>C n.3021A>C c.5216A>C (p.Gln1739Pro) c.5300A>C (p.Gln1767Pro) c.5348A>C (p.Gln1783Pro) c.4322A>C (p.Gln1441Pro) c.3903A>C c.3464A>C (p.Gln1155Pro) c.*1281A>C (n.*1281A>C) c.4617A>C c.5390A>C (p.Gln1797Pro) c.5387A>C (p.Gln1796Pro) c.5342A>C (p.Gln1781Pro) c.4466A>C (p.Gln1489Pro) c.4235A>C (p.Gln1412Pro) | |
10 | g.94298559A>G | CA5613343 | PLCE1 | c.4424A>G (p.Gln1475Arg) c.*1891A>G (n.*1891A>G) n.2083A>G n.767A>G c.*632A>G (n.*632A>G) c.4376A>G (p.Gln1459Arg) n.9556A>G n.3021A>G c.5216A>G (p.Gln1739Arg) c.5300A>G (p.Gln1767Arg) c.5348A>G (p.Gln1783Arg) c.4322A>G (p.Gln1441Arg) c.3903A>G c.3464A>G (p.Gln1155Arg) c.*1281A>G (n.*1281A>G) c.4617A>G c.5390A>G (p.Gln1797Arg) c.5387A>G (p.Gln1796Arg) c.5342A>G (p.Gln1781Arg) c.4466A>G (p.Gln1489Arg) c.4235A>G (p.Gln1412Arg) | dbSNP ExAC gnomAD v2 |
10 | g.94298559A>T | CA377642037 | PLCE1 | c.4424A>T (p.Gln1475Leu) c.*1891A>T (n.*1891A>T) n.2083A>T n.767A>T c.*632A>T (n.*632A>T) c.4376A>T (p.Gln1459Leu) n.9556A>T n.3021A>T c.5216A>T (p.Gln1739Leu) c.5300A>T (p.Gln1767Leu) c.5348A>T (p.Gln1783Leu) c.4322A>T (p.Gln1441Leu) c.3903A>T c.3464A>T (p.Gln1155Leu) c.*1281A>T (n.*1281A>T) c.4617A>T c.5390A>T (p.Gln1797Leu) c.5387A>T (p.Gln1796Leu) c.5342A>T (p.Gln1781Leu) c.4466A>T (p.Gln1489Leu) c.4235A>T (p.Gln1412Leu) | |
10 | g.94298560G>A | CA470986567 | PLCE1 | c.4425G>A (p.Gln1475=) c.*1892G>A (n.*1892G>A) n.2084G>A n.768G>A c.*633G>A (n.*633G>A) c.4377G>A (p.Gln1459=) n.9557G>A n.3022G>A c.5217G>A (p.Gln1739=) c.5301G>A (p.Gln1767=) c.5349G>A (p.Gln1783=) c.4323G>A (p.Gln1441=) c.3904G>A c.3465G>A (p.Gln1155=) c.*1282G>A (n.*1282G>A) c.4618G>A c.5391G>A (p.Gln1797=) c.5388G>A (p.Gln1796=) c.5343G>A (p.Gln1781=) c.4467G>A (p.Gln1489=) c.4236G>A (p.Gln1412=) | dbSNP |
10 | g.94298560G>C | CA377642038 | PLCE1 | c.4425G>C (p.Gln1475His) c.*1892G>C (n.*1892G>C) n.2084G>C n.768G>C c.*633G>C (n.*633G>C) c.4377G>C (p.Gln1459His) n.9557G>C n.3022G>C c.5217G>C (p.Gln1739His) c.5301G>C (p.Gln1767His) c.5349G>C (p.Gln1783His) c.4323G>C (p.Gln1441His) c.3904G>C c.3465G>C (p.Gln1155His) c.*1282G>C (n.*1282G>C) c.4618G>C c.5391G>C (p.Gln1797His) c.5388G>C (p.Gln1796His) c.5343G>C (p.Gln1781His) c.4467G>C (p.Gln1489His) c.4236G>C (p.Gln1412His) | |
10 | g.94298560G= | CA1928998439 | PLCE1 | c.4425G= (p.Gln1475=) c.*1892G= (n.*1892G=) n.2084G= n.768G= c.*633G= (n.*633G=) c.4377G= (p.Gln1459=) n.9557G= n.3022G= c.5217G= (p.Gln1739=) c.5301G= (p.Gln1767=) c.5349G= (p.Gln1783=) c.4323G= (p.Gln1441=) c.3904G= c.3465G= (p.Gln1155=) c.*1282G= (n.*1282G=) c.4618G= c.5391G= (p.Gln1797=) c.5388G= (p.Gln1796=) c.5343G= (p.Gln1781=) c.4467G= (p.Gln1489=) c.4236G= (p.Gln1412=) | |
10 | g.94298560G>T | CA377642039 | PLCE1 | c.4425G>T (p.Gln1475His) c.*1892G>T (n.*1892G>T) n.2084G>T n.768G>T c.*633G>T (n.*633G>T) c.4377G>T (p.Gln1459His) n.9557G>T n.3022G>T c.5217G>T (p.Gln1739His) c.5301G>T (p.Gln1767His) c.5349G>T (p.Gln1783His) c.4323G>T (p.Gln1441His) c.3904G>T c.3465G>T (p.Gln1155His) c.*1282G>T (n.*1282G>T) c.4618G>T c.5391G>T (p.Gln1797His) c.5388G>T (p.Gln1796His) c.5343G>T (p.Gln1781His) c.4467G>T (p.Gln1489His) c.4236G>T (p.Gln1412His) | gnomAD v4 |
10 | g.94298561C>A | CA377642041 | PLCE1 | c.4426C>A (p.Leu1476Met) c.*1893C>A (n.*1893C>A) n.2085C>A n.769C>A c.*634C>A (n.*634C>A) c.4378C>A (p.Leu1460Met) n.9558C>A n.3023C>A c.5218C>A (p.Leu1740Met) c.5302C>A (p.Leu1768Met) c.5350C>A (p.Leu1784Met) c.4324C>A (p.Leu1442Met) c.3905C>A c.3466C>A (p.Leu1156Met) c.*1283C>A (n.*1283C>A) c.4619C>A c.5392C>A (p.Leu1798Met) c.5389C>A (p.Leu1797Met) c.5344C>A (p.Leu1782Met) c.4468C>A (p.Leu1490Met) c.4237C>A (p.Leu1413Met) | |
10 | g.94298561C>G | CA377642040 | PLCE1 | c.4426C>G (p.Leu1476Val) c.*1893C>G (n.*1893C>G) n.2085C>G n.769C>G c.*634C>G (n.*634C>G) c.4378C>G (p.Leu1460Val) n.9558C>G n.3023C>G c.5218C>G (p.Leu1740Val) c.5302C>G (p.Leu1768Val) c.5350C>G (p.Leu1784Val) c.4324C>G (p.Leu1442Val) c.3905C>G c.3466C>G (p.Leu1156Val) c.*1283C>G (n.*1283C>G) c.4619C>G c.5392C>G (p.Leu1798Val) c.5389C>G (p.Leu1797Val) c.5344C>G (p.Leu1782Val) c.4468C>G (p.Leu1490Val) c.4237C>G (p.Leu1413Val) | |
10 | g.94298561C>T | CA470986569 | PLCE1 | c.4426C>T (p.Leu1476=) c.*1893C>T (n.*1893C>T) n.2085C>T n.769C>T c.*634C>T (n.*634C>T) c.4378C>T (p.Leu1460=) n.9558C>T n.3023C>T c.5218C>T (p.Leu1740=) c.5302C>T (p.Leu1768=) c.5350C>T (p.Leu1784=) c.4324C>T (p.Leu1442=) c.3905C>T c.3466C>T (p.Leu1156=) c.*1283C>T (n.*1283C>T) c.4619C>T c.5392C>T (p.Leu1798=) c.5389C>T (p.Leu1797=) c.5344C>T (p.Leu1782=) c.4468C>T (p.Leu1490=) c.4237C>T (p.Leu1413=) | |
10 | g.94298562T>A | CA377642042 | PLCE1 | c.4427T>A (p.Leu1476Gln) c.*1894T>A (n.*1894T>A) n.2086T>A n.770T>A c.*635T>A (n.*635T>A) c.4379T>A (p.Leu1460Gln) n.9559T>A n.3024T>A c.5219T>A (p.Leu1740Gln) c.5303T>A (p.Leu1768Gln) c.5351T>A (p.Leu1784Gln) c.4325T>A (p.Leu1442Gln) c.3906T>A c.3467T>A (p.Leu1156Gln) c.*1284T>A (n.*1284T>A) c.4620T>A c.5393T>A (p.Leu1798Gln) c.5390T>A (p.Leu1797Gln) c.5345T>A (p.Leu1782Gln) c.4469T>A (p.Leu1490Gln) c.4238T>A (p.Leu1413Gln) | |
10 | g.94298562T>C | CA377642043 | PLCE1 | c.4427T>C (p.Leu1476Pro) c.*1894T>C (n.*1894T>C) n.2086T>C n.770T>C c.*635T>C (n.*635T>C) c.4379T>C (p.Leu1460Pro) n.9559T>C n.3024T>C c.5219T>C (p.Leu1740Pro) c.5303T>C (p.Leu1768Pro) c.5351T>C (p.Leu1784Pro) c.4325T>C (p.Leu1442Pro) c.3906T>C c.3467T>C (p.Leu1156Pro) c.*1284T>C (n.*1284T>C) c.4620T>C c.5393T>C (p.Leu1798Pro) c.5390T>C (p.Leu1797Pro) c.5345T>C (p.Leu1782Pro) c.4469T>C (p.Leu1490Pro) c.4238T>C (p.Leu1413Pro) | |
10 | g.94298562T>G | CA377642044 | PLCE1 | c.4427T>G (p.Leu1476Arg) c.*1894T>G (n.*1894T>G) n.2086T>G n.770T>G c.*635T>G (n.*635T>G) c.4379T>G (p.Leu1460Arg) n.9559T>G n.3024T>G c.5219T>G (p.Leu1740Arg) c.5303T>G (p.Leu1768Arg) c.5351T>G (p.Leu1784Arg) c.4325T>G (p.Leu1442Arg) c.3906T>G c.3467T>G (p.Leu1156Arg) c.*1284T>G (n.*1284T>G) c.4620T>G c.5393T>G (p.Leu1798Arg) c.5390T>G (p.Leu1797Arg) c.5345T>G (p.Leu1782Arg) c.4469T>G (p.Leu1490Arg) c.4238T>G (p.Leu1413Arg) | |
10 | g.94298563G>A | CA470986570 | PLCE1 | c.4428G>A (p.Leu1476=) c.*1895G>A (n.*1895G>A) n.2087G>A n.771G>A c.*636G>A (n.*636G>A) c.4380G>A (p.Leu1460=) n.9560G>A n.3025G>A c.5220G>A (p.Leu1740=) c.5304G>A (p.Leu1768=) c.5352G>A (p.Leu1784=) c.4326G>A (p.Leu1442=) c.3907G>A c.3468G>A (p.Leu1156=) c.*1285G>A (n.*1285G>A) c.4621G>A c.5394G>A (p.Leu1798=) c.5391G>A (p.Leu1797=) c.5346G>A (p.Leu1782=) c.4470G>A (p.Leu1490=) c.4239G>A (p.Leu1413=) | |
10 | g.94298563G>C | CA470986572 | PLCE1 | c.4428G>C (p.Leu1476=) c.*1895G>C (n.*1895G>C) n.2087G>C n.771G>C c.*636G>C (n.*636G>C) c.4380G>C (p.Leu1460=) n.9560G>C n.3025G>C c.5220G>C (p.Leu1740=) c.5304G>C (p.Leu1768=) c.5352G>C (p.Leu1784=) c.4326G>C (p.Leu1442=) c.3907G>C c.3468G>C (p.Leu1156=) c.*1285G>C (n.*1285G>C) c.4621G>C c.5394G>C (p.Leu1798=) c.5391G>C (p.Leu1797=) c.5346G>C (p.Leu1782=) c.4470G>C (p.Leu1490=) c.4239G>C (p.Leu1413=) | |
10 | g.94298563G>T | CA470986571 | PLCE1 | c.4428G>T (p.Leu1476=) c.*1895G>T (n.*1895G>T) n.2087G>T n.771G>T c.*636G>T (n.*636G>T) c.4380G>T (p.Leu1460=) n.9560G>T n.3025G>T c.5220G>T (p.Leu1740=) c.5304G>T (p.Leu1768=) c.5352G>T (p.Leu1784=) c.4326G>T (p.Leu1442=) c.3907G>T c.3468G>T (p.Leu1156=) c.*1285G>T (n.*1285G>T) c.4621G>T c.5394G>T (p.Leu1798=) c.5391G>T (p.Leu1797=) c.5346G>T (p.Leu1782=) c.4470G>T (p.Leu1490=) c.4239G>T (p.Leu1413=) | |
10 | g.94298564C>A | CA377642045 | PLCE1 | c.4429C>A (p.Leu1477Met) c.*1896C>A (n.*1896C>A) n.2088C>A n.772C>A c.*637C>A (n.*637C>A) c.4381C>A (p.Leu1461Met) n.9561C>A n.3026C>A c.5221C>A (p.Leu1741Met) c.5305C>A (p.Leu1769Met) c.5353C>A (p.Leu1785Met) c.4327C>A (p.Leu1443Met) c.3908C>A c.3469C>A (p.Leu1157Met) c.*1286C>A (n.*1286C>A) c.4622C>A c.5395C>A (p.Leu1799Met) c.5392C>A (p.Leu1798Met) c.5347C>A (p.Leu1783Met) c.4471C>A (p.Leu1491Met) c.4240C>A (p.Leu1414Met) | |
10 | g.94298564C>G | CA377642046 | PLCE1 | c.4429C>G (p.Leu1477Val) c.*1896C>G (n.*1896C>G) n.2088C>G n.772C>G c.*637C>G (n.*637C>G) c.4381C>G (p.Leu1461Val) n.9561C>G n.3026C>G c.5221C>G (p.Leu1741Val) c.5305C>G (p.Leu1769Val) c.5353C>G (p.Leu1785Val) c.4327C>G (p.Leu1443Val) c.3908C>G c.3469C>G (p.Leu1157Val) c.*1286C>G (n.*1286C>G) c.4622C>G c.5395C>G (p.Leu1799Val) c.5392C>G (p.Leu1798Val) c.5347C>G (p.Leu1783Val) c.4471C>G (p.Leu1491Val) c.4240C>G (p.Leu1414Val) | |
10 | g.94298564C>T | CA470986574 | PLCE1 | c.4429C>T (p.Leu1477=) c.*1896C>T (n.*1896C>T) n.2088C>T n.772C>T c.*637C>T (n.*637C>T) c.4381C>T (p.Leu1461=) n.9561C>T n.3026C>T c.5221C>T (p.Leu1741=) c.5305C>T (p.Leu1769=) c.5353C>T (p.Leu1785=) c.4327C>T (p.Leu1443=) c.3908C>T c.3469C>T (p.Leu1157=) c.*1286C>T (n.*1286C>T) c.4622C>T c.5395C>T (p.Leu1799=) c.5392C>T (p.Leu1798=) c.5347C>T (p.Leu1783=) c.4471C>T (p.Leu1491=) c.4240C>T (p.Leu1414=) | |
10 | g.94298565T>A | CA377642047 | PLCE1 | c.4430T>A (p.Leu1477Gln) c.*1897T>A (n.*1897T>A) n.2089T>A n.773T>A c.*638T>A (n.*638T>A) c.4382T>A (p.Leu1461Gln) n.9562T>A n.3027T>A c.5222T>A (p.Leu1741Gln) c.5306T>A (p.Leu1769Gln) c.5354T>A (p.Leu1785Gln) c.4328T>A (p.Leu1443Gln) c.3909T>A c.3470T>A (p.Leu1157Gln) c.*1287T>A (n.*1287T>A) c.4623T>A c.5396T>A (p.Leu1799Gln) c.5393T>A (p.Leu1798Gln) c.5348T>A (p.Leu1783Gln) c.4472T>A (p.Leu1491Gln) c.4241T>A (p.Leu1414Gln) | |
10 | g.94298565T>C | CA377642048 | PLCE1 | c.4430T>C (p.Leu1477Pro) c.*1897T>C (n.*1897T>C) n.2089T>C n.773T>C c.*638T>C (n.*638T>C) c.4382T>C (p.Leu1461Pro) n.9562T>C n.3027T>C c.5222T>C (p.Leu1741Pro) c.5306T>C (p.Leu1769Pro) c.5354T>C (p.Leu1785Pro) c.4328T>C (p.Leu1443Pro) c.3909T>C c.3470T>C (p.Leu1157Pro) c.*1287T>C (n.*1287T>C) c.4623T>C c.5396T>C (p.Leu1799Pro) c.5393T>C (p.Leu1798Pro) c.5348T>C (p.Leu1783Pro) c.4472T>C (p.Leu1491Pro) c.4241T>C (p.Leu1414Pro) | |
10 | g.94298565T>G | CA377642049 | PLCE1 | c.4430T>G (p.Leu1477Arg) c.*1897T>G (n.*1897T>G) n.2089T>G n.773T>G c.*638T>G (n.*638T>G) c.4382T>G (p.Leu1461Arg) n.9562T>G n.3027T>G c.5222T>G (p.Leu1741Arg) c.5306T>G (p.Leu1769Arg) c.5354T>G (p.Leu1785Arg) c.4328T>G (p.Leu1443Arg) c.3909T>G c.3470T>G (p.Leu1157Arg) c.*1287T>G (n.*1287T>G) c.4623T>G c.5396T>G (p.Leu1799Arg) c.5393T>G (p.Leu1798Arg) c.5348T>G (p.Leu1783Arg) c.4472T>G (p.Leu1491Arg) c.4241T>G (p.Leu1414Arg) | |
10 | g.94298566G>A | CA470986577 | PLCE1 | c.4431G>A (p.Leu1477=) c.*1898G>A (n.*1898G>A) n.2090G>A n.774G>A c.*639G>A (n.*639G>A) c.4383G>A (p.Leu1461=) n.9563G>A n.3028G>A c.5223G>A (p.Leu1741=) c.5307G>A (p.Leu1769=) c.5355G>A (p.Leu1785=) c.4329G>A (p.Leu1443=) c.3910G>A c.3471G>A (p.Leu1157=) c.*1288G>A (n.*1288G>A) c.4624G>A c.5397G>A (p.Leu1799=) c.5394G>A (p.Leu1798=) c.5349G>A (p.Leu1783=) c.4473G>A (p.Leu1491=) c.4242G>A (p.Leu1414=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298566G>C | CA470986578 | PLCE1 | c.4431G>C (p.Leu1477=) c.*1898G>C (n.*1898G>C) n.2090G>C n.774G>C c.*639G>C (n.*639G>C) c.4383G>C (p.Leu1461=) n.9563G>C n.3028G>C c.5223G>C (p.Leu1741=) c.5307G>C (p.Leu1769=) c.5355G>C (p.Leu1785=) c.4329G>C (p.Leu1443=) c.3910G>C c.3471G>C (p.Leu1157=) c.*1288G>C (n.*1288G>C) c.4624G>C c.5397G>C (p.Leu1799=) c.5394G>C (p.Leu1798=) c.5349G>C (p.Leu1783=) c.4473G>C (p.Leu1491=) c.4242G>C (p.Leu1414=) | |
10 | g.94298566G= | CA1928998440 | PLCE1 | c.4431G= (p.Leu1477=) c.*1898G= (n.*1898G=) n.2090G= n.774G= c.*639G= (n.*639G=) c.4383G= (p.Leu1461=) n.9563G= n.3028G= c.5223G= (p.Leu1741=) c.5307G= (p.Leu1769=) c.5355G= (p.Leu1785=) c.4329G= (p.Leu1443=) c.3910G= c.3471G= (p.Leu1157=) c.*1288G= (n.*1288G=) c.4624G= c.5397G= (p.Leu1799=) c.5394G= (p.Leu1798=) c.5349G= (p.Leu1783=) c.4473G= (p.Leu1491=) c.4242G= (p.Leu1414=) | |
10 | g.94298566G>T | CA470986579 | PLCE1 | c.4431G>T (p.Leu1477=) c.*1898G>T (n.*1898G>T) n.2090G>T n.774G>T c.*639G>T (n.*639G>T) c.4383G>T (p.Leu1461=) n.9563G>T n.3028G>T c.5223G>T (p.Leu1741=) c.5307G>T (p.Leu1769=) c.5355G>T (p.Leu1785=) c.4329G>T (p.Leu1443=) c.3910G>T c.3471G>T (p.Leu1157=) c.*1288G>T (n.*1288G>T) c.4624G>T c.5397G>T (p.Leu1799=) c.5394G>T (p.Leu1798=) c.5349G>T (p.Leu1783=) c.4473G>T (p.Leu1491=) c.4242G>T (p.Leu1414=) | |
10 | g.94298567A>C | CA470986580 | PLCE1 | c.4432A>C (p.Arg1478=) c.*1899A>C (n.*1899A>C) n.2091A>C n.775A>C c.*640A>C (n.*640A>C) c.4384A>C (p.Arg1462=) n.9564A>C n.3029A>C c.5224A>C (p.Arg1742=) c.5308A>C (p.Arg1770=) c.5356A>C (p.Arg1786=) c.4330A>C (p.Arg1444=) c.3911A>C c.3472A>C (p.Arg1158=) c.*1289A>C (n.*1289A>C) c.4625A>C c.5398A>C (p.Arg1800=) c.5395A>C (p.Arg1799=) c.5350A>C (p.Arg1784=) c.4474A>C (p.Arg1492=) c.4243A>C (p.Arg1415=) | |
10 | g.94298567A>G | CA377642050 | PLCE1 | c.4432A>G (p.Arg1478Gly) c.*1899A>G (n.*1899A>G) n.2091A>G n.775A>G c.*640A>G (n.*640A>G) c.4384A>G (p.Arg1462Gly) n.9564A>G n.3029A>G c.5224A>G (p.Arg1742Gly) c.5308A>G (p.Arg1770Gly) c.5356A>G (p.Arg1786Gly) c.4330A>G (p.Arg1444Gly) c.3911A>G c.3472A>G (p.Arg1158Gly) c.*1289A>G (n.*1289A>G) c.4625A>G c.5398A>G (p.Arg1800Gly) c.5395A>G (p.Arg1799Gly) c.5350A>G (p.Arg1784Gly) c.4474A>G (p.Arg1492Gly) c.4243A>G (p.Arg1415Gly) | |
10 | g.94298567A>T | CA377642051 | PLCE1 | c.4432A>T (p.Arg1478Ter) c.*1899A>T (n.*1899A>T) n.2091A>T n.775A>T c.*640A>T (n.*640A>T) c.4384A>T (p.Arg1462Ter) n.9564A>T n.3029A>T c.5224A>T (p.Arg1742Ter) c.5308A>T (p.Arg1770Ter) c.5356A>T (p.Arg1786Ter) c.4330A>T (p.Arg1444Ter) c.3911A>T c.3472A>T (p.Arg1158Ter) c.*1289A>T (n.*1289A>T) c.4625A>T c.5398A>T (p.Arg1800Ter) c.5395A>T (p.Arg1799Ter) c.5350A>T (p.Arg1784Ter) c.4474A>T (p.Arg1492Ter) c.4243A>T (p.Arg1415Ter) | |
10 | g.94298568G>A | CA377642052 | PLCE1 | c.4433G>A (p.Arg1478Lys) c.*1900G>A (n.*1900G>A) n.2092G>A n.776G>A c.*641G>A (n.*641G>A) c.4385G>A (p.Arg1462Lys) n.9565G>A n.3030G>A c.5225G>A (p.Arg1742Lys) c.5309G>A (p.Arg1770Lys) c.5357G>A (p.Arg1786Lys) c.4331G>A (p.Arg1444Lys) c.3912G>A c.3473G>A (p.Arg1158Lys) c.*1290G>A (n.*1290G>A) c.4626G>A c.5399G>A (p.Arg1800Lys) c.5396G>A (p.Arg1799Lys) c.5351G>A (p.Arg1784Lys) c.4475G>A (p.Arg1492Lys) c.4244G>A (p.Arg1415Lys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298568G>C | CA377642053 | PLCE1 | c.4433G>C (p.Arg1478Thr) c.*1900G>C (n.*1900G>C) n.2092G>C n.776G>C c.*641G>C (n.*641G>C) c.4385G>C (p.Arg1462Thr) n.9565G>C n.3030G>C c.5225G>C (p.Arg1742Thr) c.5309G>C (p.Arg1770Thr) c.5357G>C (p.Arg1786Thr) c.4331G>C (p.Arg1444Thr) c.3912G>C c.3473G>C (p.Arg1158Thr) c.*1290G>C (n.*1290G>C) c.4626G>C c.5399G>C (p.Arg1800Thr) c.5396G>C (p.Arg1799Thr) c.5351G>C (p.Arg1784Thr) c.4475G>C (p.Arg1492Thr) c.4244G>C (p.Arg1415Thr) | |
10 | g.94298568G= | CA1928998441 | PLCE1 | c.4433G= (p.Arg1478=) c.*1900G= (n.*1900G=) n.2092G= n.776G= c.*641G= (n.*641G=) c.4385G= (p.Arg1462=) n.9565G= n.3030G= c.5225G= (p.Arg1742=) c.5309G= (p.Arg1770=) c.5357G= (p.Arg1786=) c.4331G= (p.Arg1444=) c.3912G= c.3473G= (p.Arg1158=) c.*1290G= (n.*1290G=) c.4626G= c.5399G= (p.Arg1800=) c.5396G= (p.Arg1799=) c.5351G= (p.Arg1784=) c.4475G= (p.Arg1492=) c.4244G= (p.Arg1415=) | |
10 | g.94298568G>T | CA377642054 | PLCE1 | c.4433G>T (p.Arg1478Ile) c.*1900G>T (n.*1900G>T) n.2092G>T n.776G>T c.*641G>T (n.*641G>T) c.4385G>T (p.Arg1462Ile) n.9565G>T n.3030G>T c.5225G>T (p.Arg1742Ile) c.5309G>T (p.Arg1770Ile) c.5357G>T (p.Arg1786Ile) c.4331G>T (p.Arg1444Ile) c.3912G>T c.3473G>T (p.Arg1158Ile) c.*1290G>T (n.*1290G>T) c.4626G>T c.5399G>T (p.Arg1800Ile) c.5396G>T (p.Arg1799Ile) c.5351G>T (p.Arg1784Ile) c.4475G>T (p.Arg1492Ile) c.4244G>T (p.Arg1415Ile) | |
10 | g.94298569A= | CA1928998442 | PLCE1 | c.4434A= (p.Arg1478=) c.*1901A= (n.*1901A=) n.2093A= n.777A= c.*642A= (n.*642A=) c.4386A= (p.Arg1462=) n.9566A= n.3031A= c.5226A= (p.Arg1742=) c.5310A= (p.Arg1770=) c.5358A= (p.Arg1786=) c.4332A= (p.Arg1444=) c.3913A= c.3474A= (p.Arg1158=) c.*1291A= (n.*1291A=) c.4627A= c.5400A= (p.Arg1800=) c.5397A= (p.Arg1799=) c.5352A= (p.Arg1784=) c.4476A= (p.Arg1492=) c.4245A= (p.Arg1415=) | |
10 | g.94298569A>C | CA377642055 | PLCE1 | c.4434A>C (p.Arg1478Ser) c.*1901A>C (n.*1901A>C) n.2093A>C n.777A>C c.*642A>C (n.*642A>C) c.4386A>C (p.Arg1462Ser) n.9566A>C n.3031A>C c.5226A>C (p.Arg1742Ser) c.5310A>C (p.Arg1770Ser) c.5358A>C (p.Arg1786Ser) c.4332A>C (p.Arg1444Ser) c.3913A>C c.3474A>C (p.Arg1158Ser) c.*1291A>C (n.*1291A>C) c.4627A>C c.5400A>C (p.Arg1800Ser) c.5397A>C (p.Arg1799Ser) c.5352A>C (p.Arg1784Ser) c.4476A>C (p.Arg1492Ser) c.4245A>C (p.Arg1415Ser) | |
10 | g.94298569A>G | CA5613345 | PLCE1 | c.4434A>G (p.Arg1478=) c.*1901A>G (n.*1901A>G) n.2093A>G n.777A>G c.*642A>G (n.*642A>G) c.4386A>G (p.Arg1462=) n.9566A>G n.3031A>G c.5226A>G (p.Arg1742=) c.5310A>G (p.Arg1770=) c.5358A>G (p.Arg1786=) c.4332A>G (p.Arg1444=) c.3913A>G c.3474A>G (p.Arg1158=) c.*1291A>G (n.*1291A>G) c.4627A>G c.5400A>G (p.Arg1800=) c.5397A>G (p.Arg1799=) c.5352A>G (p.Arg1784=) c.4476A>G (p.Arg1492=) c.4245A>G (p.Arg1415=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298569A>T | CA5613344 | PLCE1 | c.4434A>T (p.Arg1478Ser) c.*1901A>T (n.*1901A>T) n.2093A>T n.777A>T c.*642A>T (n.*642A>T) c.4386A>T (p.Arg1462Ser) n.9566A>T n.3031A>T c.5226A>T (p.Arg1742Ser) c.5310A>T (p.Arg1770Ser) c.5358A>T (p.Arg1786Ser) c.4332A>T (p.Arg1444Ser) c.3913A>T c.3474A>T (p.Arg1158Ser) c.*1291A>T (n.*1291A>T) c.4627A>T c.5400A>T (p.Arg1800Ser) c.5397A>T (p.Arg1799Ser) c.5352A>T (p.Arg1784Ser) c.4476A>T (p.Arg1492Ser) c.4245A>T (p.Arg1415Ser) | dbSNP ExAC |
10 | g.94298570A>C | CA377642056 | PLCE1 | c.4435A>C (p.Thr1479Pro) c.*1902A>C (n.*1902A>C) n.2094A>C n.778A>C c.*643A>C (n.*643A>C) c.4387A>C (p.Thr1463Pro) n.9567A>C n.3032A>C c.5227A>C (p.Thr1743Pro) c.5311A>C (p.Thr1771Pro) c.5359A>C (p.Thr1787Pro) c.4333A>C (p.Thr1445Pro) c.3914A>C c.3475A>C (p.Thr1159Pro) c.*1292A>C (n.*1292A>C) c.4628A>C c.5401A>C (p.Thr1801Pro) c.5398A>C (p.Thr1800Pro) c.5353A>C (p.Thr1785Pro) c.4477A>C (p.Thr1493Pro) c.4246A>C (p.Thr1416Pro) | gnomAD v4 |
10 | g.94298570A>G | CA377642058 | PLCE1 | c.4435A>G (p.Thr1479Ala) c.*1902A>G (n.*1902A>G) n.2094A>G n.778A>G c.*643A>G (n.*643A>G) c.4387A>G (p.Thr1463Ala) n.9567A>G n.3032A>G c.5227A>G (p.Thr1743Ala) c.5311A>G (p.Thr1771Ala) c.5359A>G (p.Thr1787Ala) c.4333A>G (p.Thr1445Ala) c.3914A>G c.3475A>G (p.Thr1159Ala) c.*1292A>G (n.*1292A>G) c.4628A>G c.5401A>G (p.Thr1801Ala) c.5398A>G (p.Thr1800Ala) c.5353A>G (p.Thr1785Ala) c.4477A>G (p.Thr1493Ala) c.4246A>G (p.Thr1416Ala) | |
10 | g.94298570A>T | CA377642057 | PLCE1 | c.4435A>T (p.Thr1479Ser) c.*1902A>T (n.*1902A>T) n.2094A>T n.778A>T c.*643A>T (n.*643A>T) c.4387A>T (p.Thr1463Ser) n.9567A>T n.3032A>T c.5227A>T (p.Thr1743Ser) c.5311A>T (p.Thr1771Ser) c.5359A>T (p.Thr1787Ser) c.4333A>T (p.Thr1445Ser) c.3914A>T c.3475A>T (p.Thr1159Ser) c.*1292A>T (n.*1292A>T) c.4628A>T c.5401A>T (p.Thr1801Ser) c.5398A>T (p.Thr1800Ser) c.5353A>T (p.Thr1785Ser) c.4477A>T (p.Thr1493Ser) c.4246A>T (p.Thr1416Ser) | |
10 | g.94298571C>A | CA377642059 | PLCE1 | c.4436C>A (p.Thr1479Asn) c.*1903C>A (n.*1903C>A) n.2095C>A n.779C>A c.*644C>A (n.*644C>A) c.4388C>A (p.Thr1463Asn) n.9568C>A n.3033C>A c.5228C>A (p.Thr1743Asn) c.5312C>A (p.Thr1771Asn) c.5360C>A (p.Thr1787Asn) c.4334C>A (p.Thr1445Asn) c.3915C>A c.3476C>A (p.Thr1159Asn) c.*1293C>A (n.*1293C>A) c.4629C>A c.5402C>A (p.Thr1801Asn) c.5399C>A (p.Thr1800Asn) c.5354C>A (p.Thr1785Asn) c.4478C>A (p.Thr1493Asn) c.4247C>A (p.Thr1416Asn) | |
10 | g.94298571C>G | CA377642061 | PLCE1 | c.4436C>G (p.Thr1479Ser) c.*1903C>G (n.*1903C>G) n.2095C>G n.779C>G c.*644C>G (n.*644C>G) c.4388C>G (p.Thr1463Ser) n.9568C>G n.3033C>G c.5228C>G (p.Thr1743Ser) c.5312C>G (p.Thr1771Ser) c.5360C>G (p.Thr1787Ser) c.4334C>G (p.Thr1445Ser) c.3915C>G c.3476C>G (p.Thr1159Ser) c.*1293C>G (n.*1293C>G) c.4629C>G c.5402C>G (p.Thr1801Ser) c.5399C>G (p.Thr1800Ser) c.5354C>G (p.Thr1785Ser) c.4478C>G (p.Thr1493Ser) c.4247C>G (p.Thr1416Ser) | |
10 | g.94298571C>T | CA377642060 | PLCE1 | c.4436C>T (p.Thr1479Ile) c.*1903C>T (n.*1903C>T) n.2095C>T n.779C>T c.*644C>T (n.*644C>T) c.4388C>T (p.Thr1463Ile) n.9568C>T n.3033C>T c.5228C>T (p.Thr1743Ile) c.5312C>T (p.Thr1771Ile) c.5360C>T (p.Thr1787Ile) c.4334C>T (p.Thr1445Ile) c.3915C>T c.3476C>T (p.Thr1159Ile) c.*1293C>T (n.*1293C>T) c.4629C>T c.5402C>T (p.Thr1801Ile) c.5399C>T (p.Thr1800Ile) c.5354C>T (p.Thr1785Ile) c.4478C>T (p.Thr1493Ile) c.4247C>T (p.Thr1416Ile) | |
10 | g.94298572T>A | CA470986582 | PLCE1 | c.4437T>A (p.Thr1479=) c.*1904T>A (n.*1904T>A) n.2096T>A n.780T>A c.*645T>A (n.*645T>A) c.4389T>A (p.Thr1463=) n.9569T>A n.3034T>A c.5229T>A (p.Thr1743=) c.5313T>A (p.Thr1771=) c.5361T>A (p.Thr1787=) c.4335T>A (p.Thr1445=) c.3916T>A c.3477T>A (p.Thr1159=) c.*1294T>A (n.*1294T>A) c.4630T>A c.5403T>A (p.Thr1801=) c.5400T>A (p.Thr1800=) c.5355T>A (p.Thr1785=) c.4479T>A (p.Thr1493=) c.4248T>A (p.Thr1416=) | |
10 | g.94298572T>C | CA470986583 | PLCE1 | c.4437T>C (p.Thr1479=) c.*1904T>C (n.*1904T>C) n.2096T>C n.780T>C c.*645T>C (n.*645T>C) c.4389T>C (p.Thr1463=) n.9569T>C n.3034T>C c.5229T>C (p.Thr1743=) c.5313T>C (p.Thr1771=) c.5361T>C (p.Thr1787=) c.4335T>C (p.Thr1445=) c.3916T>C c.3477T>C (p.Thr1159=) c.*1294T>C (n.*1294T>C) c.4630T>C c.5403T>C (p.Thr1801=) c.5400T>C (p.Thr1800=) c.5355T>C (p.Thr1785=) c.4479T>C (p.Thr1493=) c.4248T>C (p.Thr1416=) | dbSNP |
10 | g.94298572T>G | CA470986584 | PLCE1 | c.4437T>G (p.Thr1479=) c.*1904T>G (n.*1904T>G) n.2096T>G n.780T>G c.*645T>G (n.*645T>G) c.4389T>G (p.Thr1463=) n.9569T>G n.3034T>G c.5229T>G (p.Thr1743=) c.5313T>G (p.Thr1771=) c.5361T>G (p.Thr1787=) c.4335T>G (p.Thr1445=) c.3916T>G c.3477T>G (p.Thr1159=) c.*1294T>G (n.*1294T>G) c.4630T>G c.5403T>G (p.Thr1801=) c.5400T>G (p.Thr1800=) c.5355T>G (p.Thr1785=) c.4479T>G (p.Thr1493=) c.4248T>G (p.Thr1416=) | |
10 | g.94298572T= | CA1928998443 | PLCE1 | c.4437T= (p.Thr1479=) c.*1904T= (n.*1904T=) n.2096T= n.780T= c.*645T= (n.*645T=) c.4389T= (p.Thr1463=) n.9569T= n.3034T= c.5229T= (p.Thr1743=) c.5313T= (p.Thr1771=) c.5361T= (p.Thr1787=) c.4335T= (p.Thr1445=) c.3916T= c.3477T= (p.Thr1159=) c.*1294T= (n.*1294T=) c.4630T= c.5403T= (p.Thr1801=) c.5400T= (p.Thr1800=) c.5355T= (p.Thr1785=) c.4479T= (p.Thr1493=) c.4248T= (p.Thr1416=) | |
10 | g.94298573T>A | CA377642062 | PLCE1 | c.4438T>A (p.Tyr1480Asn) c.*1905T>A (n.*1905T>A) n.2097T>A n.781T>A c.*646T>A (n.*646T>A) c.4390T>A (p.Tyr1464Asn) n.9570T>A n.3035T>A c.5230T>A (p.Tyr1744Asn) c.5314T>A (p.Tyr1772Asn) c.5362T>A (p.Tyr1788Asn) c.4336T>A (p.Tyr1446Asn) c.3917T>A c.3478T>A (p.Tyr1160Asn) c.*1295T>A (n.*1295T>A) c.4631T>A c.5404T>A (p.Tyr1802Asn) c.5401T>A (p.Tyr1801Asn) c.5356T>A (p.Tyr1786Asn) c.4480T>A (p.Tyr1494Asn) c.4249T>A (p.Tyr1417Asn) | |
10 | g.94298573T>C | CA377642064 | PLCE1 | c.4438T>C (p.Tyr1480His) c.*1905T>C (n.*1905T>C) n.2097T>C n.781T>C c.*646T>C (n.*646T>C) c.4390T>C (p.Tyr1464His) n.9570T>C n.3035T>C c.5230T>C (p.Tyr1744His) c.5314T>C (p.Tyr1772His) c.5362T>C (p.Tyr1788His) c.4336T>C (p.Tyr1446His) c.3917T>C c.3478T>C (p.Tyr1160His) c.*1295T>C (n.*1295T>C) c.4631T>C c.5404T>C (p.Tyr1802His) c.5401T>C (p.Tyr1801His) c.5356T>C (p.Tyr1786His) c.4480T>C (p.Tyr1494His) c.4249T>C (p.Tyr1417His) | |
10 | g.94298573T>G | CA377642063 | PLCE1 | c.4438T>G (p.Tyr1480Asp) c.*1905T>G (n.*1905T>G) n.2097T>G n.781T>G c.*646T>G (n.*646T>G) c.4390T>G (p.Tyr1464Asp) n.9570T>G n.3035T>G c.5230T>G (p.Tyr1744Asp) c.5314T>G (p.Tyr1772Asp) c.5362T>G (p.Tyr1788Asp) c.4336T>G (p.Tyr1446Asp) c.3917T>G c.3478T>G (p.Tyr1160Asp) c.*1295T>G (n.*1295T>G) c.4631T>G c.5404T>G (p.Tyr1802Asp) c.5401T>G (p.Tyr1801Asp) c.5356T>G (p.Tyr1786Asp) c.4480T>G (p.Tyr1494Asp) c.4249T>G (p.Tyr1417Asp) | |
10 | g.94298574A>C | CA377642065 | PLCE1 | c.4439A>C (p.Tyr1480Ser) c.*1906A>C (n.*1906A>C) n.2098A>C n.782A>C c.*647A>C (n.*647A>C) c.4391A>C (p.Tyr1464Ser) n.9571A>C n.3036A>C c.5231A>C (p.Tyr1744Ser) c.5315A>C (p.Tyr1772Ser) c.5363A>C (p.Tyr1788Ser) c.4337A>C (p.Tyr1446Ser) c.3918A>C c.3479A>C (p.Tyr1160Ser) c.*1296A>C (n.*1296A>C) c.4632A>C c.5405A>C (p.Tyr1802Ser) c.5402A>C (p.Tyr1801Ser) c.5357A>C (p.Tyr1786Ser) c.4481A>C (p.Tyr1494Ser) c.4250A>C (p.Tyr1417Ser) | |
10 | g.94298574A>G | CA377642067 | PLCE1 | c.4439A>G (p.Tyr1480Cys) c.*1906A>G (n.*1906A>G) n.2098A>G n.782A>G c.*647A>G (n.*647A>G) c.4391A>G (p.Tyr1464Cys) n.9571A>G n.3036A>G c.5231A>G (p.Tyr1744Cys) c.5315A>G (p.Tyr1772Cys) c.5363A>G (p.Tyr1788Cys) c.4337A>G (p.Tyr1446Cys) c.3918A>G c.3479A>G (p.Tyr1160Cys) c.*1296A>G (n.*1296A>G) c.4632A>G c.5405A>G (p.Tyr1802Cys) c.5402A>G (p.Tyr1801Cys) c.5357A>G (p.Tyr1786Cys) c.4481A>G (p.Tyr1494Cys) c.4250A>G (p.Tyr1417Cys) | |
10 | g.94298574A>T | CA377642066 | PLCE1 | c.4439A>T (p.Tyr1480Phe) c.*1906A>T (n.*1906A>T) n.2098A>T n.782A>T c.*647A>T (n.*647A>T) c.4391A>T (p.Tyr1464Phe) n.9571A>T n.3036A>T c.5231A>T (p.Tyr1744Phe) c.5315A>T (p.Tyr1772Phe) c.5363A>T (p.Tyr1788Phe) c.4337A>T (p.Tyr1446Phe) c.3918A>T c.3479A>T (p.Tyr1160Phe) c.*1296A>T (n.*1296A>T) c.4632A>T c.5405A>T (p.Tyr1802Phe) c.5402A>T (p.Tyr1801Phe) c.5357A>T (p.Tyr1786Phe) c.4481A>T (p.Tyr1494Phe) c.4250A>T (p.Tyr1417Phe) | |
10 | g.94298574dup | CA2573145877 | PLCE1 | c.4439dup (p.Tyr1480Ter) c.*1906dup (n.*1906dup) n.2098dup n.782dup c.*647dup (n.*647dup) c.4391dup (p.Tyr1464Ter) n.9571dup n.3036dup c.5231dup (p.Tyr1744Ter) c.5315dup (p.Tyr1772Ter) c.5363dup (p.Tyr1788Ter) c.4337dup (p.Tyr1446Ter) c.3918dup c.3479dup (p.Tyr1160Ter) c.*1296dup (n.*1296dup) c.4632dup c.5405dup (p.Tyr1802Ter) c.5402dup (p.Tyr1801Ter) c.5357dup (p.Tyr1786Ter) c.4481dup (p.Tyr1494Ter) c.4250dup (p.Tyr1417Ter) | ClinVar dbSNP |