| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 10 | g.94298575C>A | CA377642068 | PLCE1 | c.4440C>A (p.Tyr1480Ter) c.*1907C>A (n.*1907C>A) n.2099C>A n.783C>A c.*648C>A (n.*648C>A) c.4392C>A (p.Tyr1464Ter) n.9572C>A n.3037C>A c.5232C>A (p.Tyr1744Ter) c.5316C>A (p.Tyr1772Ter) c.5364C>A (p.Tyr1788Ter) c.4338C>A (p.Tyr1446Ter) c.3919C>A c.3480C>A (p.Tyr1160Ter) c.*1297C>A (n.*1297C>A) c.4633C>A c.5406C>A (p.Tyr1802Ter) c.5403C>A (p.Tyr1801Ter) c.5358C>A (p.Tyr1786Ter) c.4482C>A (p.Tyr1494Ter) c.4251C>A (p.Tyr1417Ter) | gnomAD v4 |
| 10 | g.94298575C= | CA1928998444 | PLCE1 | c.4440C= (p.Tyr1480=) c.*1907C= (n.*1907C=) n.2099C= n.783C= c.*648C= (n.*648C=) c.4392C= (p.Tyr1464=) n.9572C= n.3037C= c.5232C= (p.Tyr1744=) c.5316C= (p.Tyr1772=) c.5364C= (p.Tyr1788=) c.4338C= (p.Tyr1446=) c.3919C= c.3480C= (p.Tyr1160=) c.*1297C= (n.*1297C=) c.4633C= c.5406C= (p.Tyr1802=) c.5403C= (p.Tyr1801=) c.5358C= (p.Tyr1786=) c.4482C= (p.Tyr1494=) c.4251C= (p.Tyr1417=) | |
| 10 | g.94298575C>G | CA377642069 | PLCE1 | c.4440C>G (p.Tyr1480Ter) c.*1907C>G (n.*1907C>G) n.2099C>G n.783C>G c.*648C>G (n.*648C>G) c.4392C>G (p.Tyr1464Ter) n.9572C>G n.3037C>G c.5232C>G (p.Tyr1744Ter) c.5316C>G (p.Tyr1772Ter) c.5364C>G (p.Tyr1788Ter) c.4338C>G (p.Tyr1446Ter) c.3919C>G c.3480C>G (p.Tyr1160Ter) c.*1297C>G (n.*1297C>G) c.4633C>G c.5406C>G (p.Tyr1802Ter) c.5403C>G (p.Tyr1801Ter) c.5358C>G (p.Tyr1786Ter) c.4482C>G (p.Tyr1494Ter) c.4251C>G (p.Tyr1417Ter) | |
| 10 | g.94298575C>T | CA5613346 | PLCE1 | c.4440C>T (p.Tyr1480=) c.*1907C>T (n.*1907C>T) n.2099C>T n.783C>T c.*648C>T (n.*648C>T) c.4392C>T (p.Tyr1464=) n.9572C>T n.3037C>T c.5232C>T (p.Tyr1744=) c.5316C>T (p.Tyr1772=) c.5364C>T (p.Tyr1788=) c.4338C>T (p.Tyr1446=) c.3919C>T c.3480C>T (p.Tyr1160=) c.*1297C>T (n.*1297C>T) c.4633C>T c.5406C>T (p.Tyr1802=) c.5403C>T (p.Tyr1801=) c.5358C>T (p.Tyr1786=) c.4482C>T (p.Tyr1494=) c.4251C>T (p.Tyr1417=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94298576C>A | CA377642070 | PLCE1 | c.4441C>A (p.Pro1481Thr) c.*1908C>A (n.*1908C>A) n.2100C>A n.784C>A c.*649C>A (n.*649C>A) c.4393C>A (p.Pro1465Thr) n.9573C>A n.3038C>A c.5233C>A (p.Pro1745Thr) c.5317C>A (p.Pro1773Thr) c.5365C>A (p.Pro1789Thr) c.4339C>A (p.Pro1447Thr) c.3920C>A c.3481C>A (p.Pro1161Thr) c.*1298C>A (n.*1298C>A) c.4634C>A c.5407C>A (p.Pro1803Thr) c.5404C>A (p.Pro1802Thr) c.5359C>A (p.Pro1787Thr) c.4483C>A (p.Pro1495Thr) c.4252C>A (p.Pro1418Thr) | |
| 10 | g.94298576C= | CA1928998445 | PLCE1 | c.4441C= (p.Pro1481=) c.*1908C= (n.*1908C=) n.2100C= n.784C= c.*649C= (n.*649C=) c.4393C= (p.Pro1465=) n.9573C= n.3038C= c.5233C= (p.Pro1745=) c.5317C= (p.Pro1773=) c.5365C= (p.Pro1789=) c.4339C= (p.Pro1447=) c.3920C= c.3481C= (p.Pro1161=) c.*1298C= (n.*1298C=) c.4634C= c.5407C= (p.Pro1803=) c.5404C= (p.Pro1802=) c.5359C= (p.Pro1787=) c.4483C= (p.Pro1495=) c.4252C= (p.Pro1418=) | |
| 10 | g.94298576C>G | CA377642071 | PLCE1 | c.4441C>G (p.Pro1481Ala) c.*1908C>G (n.*1908C>G) n.2100C>G n.784C>G c.*649C>G (n.*649C>G) c.4393C>G (p.Pro1465Ala) n.9573C>G n.3038C>G c.5233C>G (p.Pro1745Ala) c.5317C>G (p.Pro1773Ala) c.5365C>G (p.Pro1789Ala) c.4339C>G (p.Pro1447Ala) c.3920C>G c.3481C>G (p.Pro1161Ala) c.*1298C>G (n.*1298C>G) c.4634C>G c.5407C>G (p.Pro1803Ala) c.5404C>G (p.Pro1802Ala) c.5359C>G (p.Pro1787Ala) c.4483C>G (p.Pro1495Ala) c.4252C>G (p.Pro1418Ala) | gnomAD v4 |
| 10 | g.94298576C>T | CA5613347 | PLCE1 | c.4441C>T (p.Pro1481Ser) c.*1908C>T (n.*1908C>T) n.2100C>T n.784C>T c.*649C>T (n.*649C>T) c.4393C>T (p.Pro1465Ser) n.9573C>T n.3038C>T c.5233C>T (p.Pro1745Ser) c.5317C>T (p.Pro1773Ser) c.5365C>T (p.Pro1789Ser) c.4339C>T (p.Pro1447Ser) c.3920C>T c.3481C>T (p.Pro1161Ser) c.*1298C>T (n.*1298C>T) c.4634C>T c.5407C>T (p.Pro1803Ser) c.5404C>T (p.Pro1802Ser) c.5359C>T (p.Pro1787Ser) c.4483C>T (p.Pro1495Ser) c.4252C>T (p.Pro1418Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.94298577C>A | CA377642072 | PLCE1 | c.4442C>A (p.Pro1481His) c.*1909C>A (n.*1909C>A) n.2101C>A n.785C>A c.*650C>A (n.*650C>A) c.4394C>A (p.Pro1465His) n.9574C>A n.3039C>A c.5234C>A (p.Pro1745His) c.5318C>A (p.Pro1773His) c.5366C>A (p.Pro1789His) c.4340C>A (p.Pro1447His) c.3921C>A c.3482C>A (p.Pro1161His) c.*1299C>A (n.*1299C>A) c.4635C>A c.5408C>A (p.Pro1803His) c.5405C>A (p.Pro1802His) c.5360C>A (p.Pro1787His) c.4484C>A (p.Pro1495His) c.4253C>A (p.Pro1418His) | |
| 10 | g.94298577C>G | CA377642073 | PLCE1 | c.4442C>G (p.Pro1481Arg) c.*1909C>G (n.*1909C>G) n.2101C>G n.785C>G c.*650C>G (n.*650C>G) c.4394C>G (p.Pro1465Arg) n.9574C>G n.3039C>G c.5234C>G (p.Pro1745Arg) c.5318C>G (p.Pro1773Arg) c.5366C>G (p.Pro1789Arg) c.4340C>G (p.Pro1447Arg) c.3921C>G c.3482C>G (p.Pro1161Arg) c.*1299C>G (n.*1299C>G) c.4635C>G c.5408C>G (p.Pro1803Arg) c.5405C>G (p.Pro1802Arg) c.5360C>G (p.Pro1787Arg) c.4484C>G (p.Pro1495Arg) c.4253C>G (p.Pro1418Arg) | |
| 10 | g.94298577C>T | CA377642074 | PLCE1 | c.4442C>T (p.Pro1481Leu) c.*1909C>T (n.*1909C>T) n.2101C>T n.785C>T c.*650C>T (n.*650C>T) c.4394C>T (p.Pro1465Leu) n.9574C>T n.3039C>T c.5234C>T (p.Pro1745Leu) c.5318C>T (p.Pro1773Leu) c.5366C>T (p.Pro1789Leu) c.4340C>T (p.Pro1447Leu) c.3921C>T c.3482C>T (p.Pro1161Leu) c.*1299C>T (n.*1299C>T) c.4635C>T c.5408C>T (p.Pro1803Leu) c.5405C>T (p.Pro1802Leu) c.5360C>T (p.Pro1787Leu) c.4484C>T (p.Pro1495Leu) c.4253C>T (p.Pro1418Leu) | |
| 10 | g.94298578T>A | CA470986586 | PLCE1 | c.4443T>A (p.Pro1481=) c.*1910T>A (n.*1910T>A) n.2102T>A n.786T>A c.*651T>A (n.*651T>A) c.4395T>A (p.Pro1465=) n.9575T>A n.3040T>A c.5235T>A (p.Pro1745=) c.5319T>A (p.Pro1773=) c.5367T>A (p.Pro1789=) c.4341T>A (p.Pro1447=) c.3922T>A c.3483T>A (p.Pro1161=) c.*1300T>A (n.*1300T>A) c.4636T>A c.5409T>A (p.Pro1803=) c.5406T>A (p.Pro1802=) c.5361T>A (p.Pro1787=) c.4485T>A (p.Pro1495=) c.4254T>A (p.Pro1418=) | |
| 10 | g.94298578T>C | CA470986587 | PLCE1 | c.4443T>C (p.Pro1481=) c.*1910T>C (n.*1910T>C) n.2102T>C n.786T>C c.*651T>C (n.*651T>C) c.4395T>C (p.Pro1465=) n.9575T>C n.3040T>C c.5235T>C (p.Pro1745=) c.5319T>C (p.Pro1773=) c.5367T>C (p.Pro1789=) c.4341T>C (p.Pro1447=) c.3922T>C c.3483T>C (p.Pro1161=) c.*1300T>C (n.*1300T>C) c.4636T>C c.5409T>C (p.Pro1803=) c.5406T>C (p.Pro1802=) c.5361T>C (p.Pro1787=) c.4485T>C (p.Pro1495=) c.4254T>C (p.Pro1418=) | |
| 10 | g.94298578T>G | CA470986588 | PLCE1 | c.4443T>G (p.Pro1481=) c.*1910T>G (n.*1910T>G) n.2102T>G n.786T>G c.*651T>G (n.*651T>G) c.4395T>G (p.Pro1465=) n.9575T>G n.3040T>G c.5235T>G (p.Pro1745=) c.5319T>G (p.Pro1773=) c.5367T>G (p.Pro1789=) c.4341T>G (p.Pro1447=) c.3922T>G c.3483T>G (p.Pro1161=) c.*1300T>G (n.*1300T>G) c.4636T>G c.5409T>G (p.Pro1803=) c.5406T>G (p.Pro1802=) c.5361T>G (p.Pro1787=) c.4485T>G (p.Pro1495=) c.4254T>G (p.Pro1418=) | |
| 10 | g.94298579G>A | CA377642075 | PLCE1 | c.4444G>A (p.Ala1482Thr) c.*1911G>A (n.*1911G>A) n.2103G>A n.787G>A c.*652G>A (n.*652G>A) c.4396G>A (p.Ala1466Thr) n.9576G>A n.3041G>A c.5236G>A (p.Ala1746Thr) c.5320G>A (p.Ala1774Thr) c.5368G>A (p.Ala1790Thr) c.4342G>A (p.Ala1448Thr) c.3923G>A c.3484G>A (p.Ala1162Thr) c.*1301G>A (n.*1301G>A) c.4637G>A c.5410G>A (p.Ala1804Thr) c.5407G>A (p.Ala1803Thr) c.5362G>A (p.Ala1788Thr) c.4486G>A (p.Ala1496Thr) c.4255G>A (p.Ala1419Thr) | |
| 10 | g.94298579G>C | CA377642076 | PLCE1 | c.4444G>C (p.Ala1482Pro) c.*1911G>C (n.*1911G>C) n.2103G>C n.787G>C c.*652G>C (n.*652G>C) c.4396G>C (p.Ala1466Pro) n.9576G>C n.3041G>C c.5236G>C (p.Ala1746Pro) c.5320G>C (p.Ala1774Pro) c.5368G>C (p.Ala1790Pro) c.4342G>C (p.Ala1448Pro) c.3923G>C c.3484G>C (p.Ala1162Pro) c.*1301G>C (n.*1301G>C) c.4637G>C c.5410G>C (p.Ala1804Pro) c.5407G>C (p.Ala1803Pro) c.5362G>C (p.Ala1788Pro) c.4486G>C (p.Ala1496Pro) c.4255G>C (p.Ala1419Pro) | |
| 10 | g.94298579G>T | CA377642077 | PLCE1 | c.4444G>T (p.Ala1482Ser) c.*1911G>T (n.*1911G>T) n.2103G>T n.787G>T c.*652G>T (n.*652G>T) c.4396G>T (p.Ala1466Ser) n.9576G>T n.3041G>T c.5236G>T (p.Ala1746Ser) c.5320G>T (p.Ala1774Ser) c.5368G>T (p.Ala1790Ser) c.4342G>T (p.Ala1448Ser) c.3923G>T c.3484G>T (p.Ala1162Ser) c.*1301G>T (n.*1301G>T) c.4637G>T c.5410G>T (p.Ala1804Ser) c.5407G>T (p.Ala1803Ser) c.5362G>T (p.Ala1788Ser) c.4486G>T (p.Ala1496Ser) c.4255G>T (p.Ala1419Ser) | |
| 10 | g.94298580C>A | CA377642078 | PLCE1 | c.4445C>A (p.Ala1482Asp) c.*1912C>A (n.*1912C>A) n.2104C>A n.788C>A c.*653C>A (n.*653C>A) c.4397C>A (p.Ala1466Asp) n.9577C>A n.3042C>A c.5237C>A (p.Ala1746Asp) c.5321C>A (p.Ala1774Asp) c.5369C>A (p.Ala1790Asp) c.4343C>A (p.Ala1448Asp) c.3924C>A c.3485C>A (p.Ala1162Asp) c.*1302C>A (n.*1302C>A) c.4638C>A c.5411C>A (p.Ala1804Asp) c.5408C>A (p.Ala1803Asp) c.5363C>A (p.Ala1788Asp) c.4487C>A (p.Ala1496Asp) c.4256C>A (p.Ala1419Asp) | |
| 10 | g.94298580C>G | CA377642079 | PLCE1 | c.4445C>G (p.Ala1482Gly) c.*1912C>G (n.*1912C>G) n.2104C>G n.788C>G c.*653C>G (n.*653C>G) c.4397C>G (p.Ala1466Gly) n.9577C>G n.3042C>G c.5237C>G (p.Ala1746Gly) c.5321C>G (p.Ala1774Gly) c.5369C>G (p.Ala1790Gly) c.4343C>G (p.Ala1448Gly) c.3924C>G c.3485C>G (p.Ala1162Gly) c.*1302C>G (n.*1302C>G) c.4638C>G c.5411C>G (p.Ala1804Gly) c.5408C>G (p.Ala1803Gly) c.5363C>G (p.Ala1788Gly) c.4487C>G (p.Ala1496Gly) c.4256C>G (p.Ala1419Gly) | |
| 10 | g.94298580C>T | CA377642080 | PLCE1 | c.4445C>T (p.Ala1482Val) c.*1912C>T (n.*1912C>T) n.2104C>T n.788C>T c.*653C>T (n.*653C>T) c.4397C>T (p.Ala1466Val) n.9577C>T n.3042C>T c.5237C>T (p.Ala1746Val) c.5321C>T (p.Ala1774Val) c.5369C>T (p.Ala1790Val) c.4343C>T (p.Ala1448Val) c.3924C>T c.3485C>T (p.Ala1162Val) c.*1302C>T (n.*1302C>T) c.4638C>T c.5411C>T (p.Ala1804Val) c.5408C>T (p.Ala1803Val) c.5363C>T (p.Ala1788Val) c.4487C>T (p.Ala1496Val) c.4256C>T (p.Ala1419Val) | |
| 10 | g.94298581T>A | CA470986589 | PLCE1 | c.4446T>A (p.Ala1482=) c.*1913T>A (n.*1913T>A) n.2105T>A n.789T>A c.*654T>A (n.*654T>A) c.4398T>A (p.Ala1466=) n.9578T>A n.3043T>A c.5238T>A (p.Ala1746=) c.5322T>A (p.Ala1774=) c.5370T>A (p.Ala1790=) c.4344T>A (p.Ala1448=) c.3925T>A c.3486T>A (p.Ala1162=) c.*1303T>A (n.*1303T>A) c.4639T>A c.5412T>A (p.Ala1804=) c.5409T>A (p.Ala1803=) c.5364T>A (p.Ala1788=) c.4488T>A (p.Ala1496=) c.4257T>A (p.Ala1419=) | |
| 10 | g.94298581T>C | CA470986591 | PLCE1 | c.4446T>C (p.Ala1482=) c.*1913T>C (n.*1913T>C) n.2105T>C n.789T>C c.*654T>C (n.*654T>C) c.4398T>C (p.Ala1466=) n.9578T>C n.3043T>C c.5238T>C (p.Ala1746=) c.5322T>C (p.Ala1774=) c.5370T>C (p.Ala1790=) c.4344T>C (p.Ala1448=) c.3925T>C c.3486T>C (p.Ala1162=) c.*1303T>C (n.*1303T>C) c.4639T>C c.5412T>C (p.Ala1804=) c.5409T>C (p.Ala1803=) c.5364T>C (p.Ala1788=) c.4488T>C (p.Ala1496=) c.4257T>C (p.Ala1419=) | gnomAD v4 |
| 10 | g.94298581T>G | CA470986592 | PLCE1 | c.4446T>G (p.Ala1482=) c.*1913T>G (n.*1913T>G) n.2105T>G n.789T>G c.*654T>G (n.*654T>G) c.4398T>G (p.Ala1466=) n.9578T>G n.3043T>G c.5238T>G (p.Ala1746=) c.5322T>G (p.Ala1774=) c.5370T>G (p.Ala1790=) c.4344T>G (p.Ala1448=) c.3925T>G c.3486T>G (p.Ala1162=) c.*1303T>G (n.*1303T>G) c.4639T>G c.5412T>G (p.Ala1804=) c.5409T>G (p.Ala1803=) c.5364T>G (p.Ala1788=) c.4488T>G (p.Ala1496=) c.4257T>G (p.Ala1419=) | |
| 10 | g.94298582G>A | CA377642083 | PLCE1 | c.4447G>A (p.Ala1483Thr) c.*1914G>A (n.*1914G>A) n.2106G>A n.790G>A c.*655G>A (n.*655G>A) c.4399G>A (p.Ala1467Thr) n.9579G>A n.3044G>A c.5239G>A (p.Ala1747Thr) c.5323G>A (p.Ala1775Thr) c.5371G>A (p.Ala1791Thr) c.4345G>A (p.Ala1449Thr) c.3926G>A c.3487G>A (p.Ala1163Thr) c.*1304G>A (n.*1304G>A) c.4640G>A c.5413G>A (p.Ala1805Thr) c.5410G>A (p.Ala1804Thr) c.5365G>A (p.Ala1789Thr) c.4489G>A (p.Ala1497Thr) c.4258G>A (p.Ala1420Thr) | |
| 10 | g.94298582G>C | CA377642081 | PLCE1 | c.4447G>C (p.Ala1483Pro) c.*1914G>C (n.*1914G>C) n.2106G>C n.790G>C c.*655G>C (n.*655G>C) c.4399G>C (p.Ala1467Pro) n.9579G>C n.3044G>C c.5239G>C (p.Ala1747Pro) c.5323G>C (p.Ala1775Pro) c.5371G>C (p.Ala1791Pro) c.4345G>C (p.Ala1449Pro) c.3926G>C c.3487G>C (p.Ala1163Pro) c.*1304G>C (n.*1304G>C) c.4640G>C c.5413G>C (p.Ala1805Pro) c.5410G>C (p.Ala1804Pro) c.5365G>C (p.Ala1789Pro) c.4489G>C (p.Ala1497Pro) c.4258G>C (p.Ala1420Pro) | |
| 10 | g.94298582G>T | CA377642082 | PLCE1 | c.4447G>T (p.Ala1483Ser) c.*1914G>T (n.*1914G>T) n.2106G>T n.790G>T c.*655G>T (n.*655G>T) c.4399G>T (p.Ala1467Ser) n.9579G>T n.3044G>T c.5239G>T (p.Ala1747Ser) c.5323G>T (p.Ala1775Ser) c.5371G>T (p.Ala1791Ser) c.4345G>T (p.Ala1449Ser) c.3926G>T c.3487G>T (p.Ala1163Ser) c.*1304G>T (n.*1304G>T) c.4640G>T c.5413G>T (p.Ala1805Ser) c.5410G>T (p.Ala1804Ser) c.5365G>T (p.Ala1789Ser) c.4489G>T (p.Ala1497Ser) c.4258G>T (p.Ala1420Ser) | |
| 10 | g.94298583C>A | CA377642084 | PLCE1 | c.4448C>A (p.Ala1483Asp) c.*1915C>A (n.*1915C>A) n.2107C>A n.791C>A c.*656C>A (n.*656C>A) c.4400C>A (p.Ala1467Asp) n.9580C>A n.3045C>A c.5240C>A (p.Ala1747Asp) c.5324C>A (p.Ala1775Asp) c.5372C>A (p.Ala1791Asp) c.4346C>A (p.Ala1449Asp) c.3927C>A c.3488C>A (p.Ala1163Asp) c.*1305C>A (n.*1305C>A) c.4641C>A c.5414C>A (p.Ala1805Asp) c.5411C>A (p.Ala1804Asp) c.5366C>A (p.Ala1789Asp) c.4490C>A (p.Ala1497Asp) c.4259C>A (p.Ala1420Asp) | |
| 10 | g.94298583C>G | CA377642085 | PLCE1 | c.4448C>G (p.Ala1483Gly) c.*1915C>G (n.*1915C>G) n.2107C>G n.791C>G c.*656C>G (n.*656C>G) c.4400C>G (p.Ala1467Gly) n.9580C>G n.3045C>G c.5240C>G (p.Ala1747Gly) c.5324C>G (p.Ala1775Gly) c.5372C>G (p.Ala1791Gly) c.4346C>G (p.Ala1449Gly) c.3927C>G c.3488C>G (p.Ala1163Gly) c.*1305C>G (n.*1305C>G) c.4641C>G c.5414C>G (p.Ala1805Gly) c.5411C>G (p.Ala1804Gly) c.5366C>G (p.Ala1789Gly) c.4490C>G (p.Ala1497Gly) c.4259C>G (p.Ala1420Gly) | |
| 10 | g.94298583C>T | CA377642086 | PLCE1 | c.4448C>T (p.Ala1483Val) c.*1915C>T (n.*1915C>T) n.2107C>T n.791C>T c.*656C>T (n.*656C>T) c.4400C>T (p.Ala1467Val) n.9580C>T n.3045C>T c.5240C>T (p.Ala1747Val) c.5324C>T (p.Ala1775Val) c.5372C>T (p.Ala1791Val) c.4346C>T (p.Ala1449Val) c.3927C>T c.3488C>T (p.Ala1163Val) c.*1305C>T (n.*1305C>T) c.4641C>T c.5414C>T (p.Ala1805Val) c.5411C>T (p.Ala1804Val) c.5366C>T (p.Ala1789Val) c.4490C>T (p.Ala1497Val) c.4259C>T (p.Ala1420Val) |