| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |