Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.94298567A>CCA470986580PLCE1c.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=)
10g.94298567A>GCA377642050PLCE1c.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)
10g.94298567A>TCA377642051PLCE1c.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)
10g.94298568G>ACA377642052PLCE1c.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
10g.94298568G>CCA377642053PLCE1c.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)
10g.94298568G=CA1928998441PLCE1c.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=)
10g.94298568G>TCA377642054PLCE1c.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)
10g.94298569A=CA1928998442PLCE1c.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=)
10g.94298569A>CCA377642055PLCE1c.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)
10g.94298569A>GCA5613345PLCE1c.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
10g.94298569A>TCA5613344PLCE1c.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
10g.94298570A>CCA377642056PLCE1c.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
10g.94298570A>GCA377642058PLCE1c.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)
10g.94298570A>TCA377642057PLCE1c.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)
10g.94298571C>ACA377642059PLCE1c.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)
10g.94298571C>GCA377642061PLCE1c.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)
10g.94298571C>TCA377642060PLCE1c.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)
10g.94298572T>ACA470986582PLCE1c.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=)
10g.94298572T>CCA470986583PLCE1c.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
10g.94298572T>GCA470986584PLCE1c.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=)
10g.94298572T=CA1928998443PLCE1c.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=)
10g.94298573T>ACA377642062PLCE1c.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)
10g.94298573T>CCA377642064PLCE1c.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)
10g.94298573T>GCA377642063PLCE1c.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)
10g.94298574A>CCA377642065PLCE1c.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)
10g.94298574A>GCA377642067PLCE1c.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)
10g.94298574A>TCA377642066PLCE1c.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)
10g.94298574dupCA2573145877PLCE1c.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
10g.94298575C>ACA377642068PLCE1c.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
10g.94298575C=CA1928998444PLCE1c.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=)
10g.94298575C>GCA377642069PLCE1c.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)
10g.94298575C>TCA5613346PLCE1c.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
10g.94298576C>ACA377642070PLCE1c.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)
10g.94298576C=CA1928998445PLCE1c.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=)
10g.94298576C>GCA377642071PLCE1c.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
10g.94298576C>TCA5613347PLCE1c.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
10g.94298577C>ACA377642072PLCE1c.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)
10g.94298577C>GCA377642073PLCE1c.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)
10g.94298577C>TCA377642074PLCE1c.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)
10g.94298578T>ACA470986586PLCE1c.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=)
10g.94298578T>CCA470986587PLCE1c.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=)
10g.94298578T>GCA470986588PLCE1c.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=)
10g.94298579G>ACA377642075PLCE1c.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)
10g.94298579G>CCA377642076PLCE1c.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)
10g.94298579G>TCA377642077PLCE1c.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)
10g.94298580C>ACA377642078PLCE1c.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)
10g.94298580C>GCA377642079PLCE1c.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)
10g.94298580C>TCA377642080PLCE1c.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)
10g.94298581T>ACA470986589PLCE1c.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=)
10g.94298581T>CCA470986591PLCE1c.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

Number of alleles fetched