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