Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.94298373dupCA5613304PLCE1c.5168-6dup (p.=)
c.4142-6dup (p.=)
n.3723-6dup
n.3284-6dup (p.=)
n.4244-6dup (p.=)
c.*1101-6dup (p.=)
n.4437-6dup
c.4013-6dup (p.=)
c.4244-6dup (p.=)
c.5120-6dup (p.=)
c.5210-6dup (p.=)
c.5207-6dup (p.=)
c.5162-6dup (p.=)
c.4286-6dup (p.=)
c.4055-6dup (p.=)
c.4196-6dup (p.=)
dbSNP ExAC gnomAD
10g.94298372G>ACA595294565PLCE1c.5168-7G>A (p.=)
c.4142-7G>A (p.=)
n.3723-7G>A
n.3284-7G>A (p.=)
n.4244-7G>A (p.=)
c.*1101-7G>A (p.=)
n.4437-7G>A
c.4013-7G>A (p.=)
c.4244-7G>A (p.=)
c.5120-7G>A (p.=)
c.5210-7G>A (p.=)
c.5207-7G>A (p.=)
c.5162-7G>A (p.=)
c.4286-7G>A (p.=)
c.4055-7G>A (p.=)
c.4196-7G>A (p.=)
gnomAD
10g.94298372G=CA1928998360PLCE1c.5168-7G= (p.=)
c.4142-7G= (p.=)
n.3723-7G=
n.3284-7G= (p.=)
n.4244-7G= (p.=)
c.*1101-7G= (p.=)
n.4437-7G=
c.4013-7G= (p.=)
c.4244-7G= (p.=)
c.5120-7G= (p.=)
c.5210-7G= (p.=)
c.5207-7G= (p.=)
c.5162-7G= (p.=)
c.4286-7G= (p.=)
c.4055-7G= (p.=)
c.4196-7G= (p.=)
10g.94298373G>ACA5613307PLCE1c.5168-6G>A (p.=)
c.4142-6G>A (p.=)
n.3723-6G>A
n.3284-6G>A (p.=)
n.4244-6G>A (p.=)
c.*1101-6G>A (p.=)
n.4437-6G>A
c.4013-6G>A (p.=)
c.4244-6G>A (p.=)
c.5120-6G>A (p.=)
c.5210-6G>A (p.=)
c.5207-6G>A (p.=)
c.5162-6G>A (p.=)
c.4286-6G>A (p.=)
c.4055-6G>A (p.=)
c.4196-6G>A (p.=)
dbSNP ExAC gnomAD
10g.94298373G>CCA5613306PLCE1c.5168-6G>C (p.=)
c.4142-6G>C (p.=)
n.3723-6G>C
n.3284-6G>C (p.=)
n.4244-6G>C (p.=)
c.*1101-6G>C (p.=)
n.4437-6G>C
c.4013-6G>C (p.=)
c.4244-6G>C (p.=)
c.5120-6G>C (p.=)
c.5210-6G>C (p.=)
c.5207-6G>C (p.=)
c.5162-6G>C (p.=)
c.4286-6G>C (p.=)
c.4055-6G>C (p.=)
c.4196-6G>C (p.=)
ClinVar dbSNP ExAC gnomAD
10g.94298373G=CA1928998361PLCE1c.5168-6G= (p.=)
c.4142-6G= (p.=)
n.3723-6G=
n.3284-6G= (p.=)
n.4244-6G= (p.=)
c.*1101-6G= (p.=)
n.4437-6G=
c.4013-6G= (p.=)
c.4244-6G= (p.=)
c.5120-6G= (p.=)
c.5210-6G= (p.=)
c.5207-6G= (p.=)
c.5162-6G= (p.=)
c.4286-6G= (p.=)
c.4055-6G= (p.=)
c.4196-6G= (p.=)
10g.94298373G>TCA5613308PLCE1c.5168-6G>T (p.=)
c.4142-6G>T (p.=)
n.3723-6G>T
n.3284-6G>T (p.=)
n.4244-6G>T (p.=)
c.*1101-6G>T (p.=)
n.4437-6G>T
c.4013-6G>T (p.=)
c.4244-6G>T (p.=)
c.5120-6G>T (p.=)
c.5210-6G>T (p.=)
c.5207-6G>T (p.=)
c.5162-6G>T (p.=)
c.4286-6G>T (p.=)
c.4055-6G>T (p.=)
c.4196-6G>T (p.=)
ClinVar dbSNP ExAC gnomAD
10g.94298374T>GCA5613309PLCE1c.5168-5T>G (p.=)
c.4142-5T>G (p.=)
n.3723-5T>G
n.3284-5T>G (p.=)
n.4244-5T>G (p.=)
c.*1101-5T>G (p.=)
n.4437-5T>G
c.4013-5T>G (p.=)
c.4244-5T>G (p.=)
c.5120-5T>G (p.=)
c.5210-5T>G (p.=)
c.5207-5T>G (p.=)
c.5162-5T>G (p.=)
c.4286-5T>G (p.=)
c.4055-5T>G (p.=)
c.4196-5T>G (p.=)
dbSNP ExAC gnomAD
10g.94298374T=CA1928998362PLCE1c.5168-5T= (p.=)
c.4142-5T= (p.=)
n.3723-5T=
n.3284-5T= (p.=)
n.4244-5T= (p.=)
c.*1101-5T= (p.=)
n.4437-5T=
c.4013-5T= (p.=)
c.4244-5T= (p.=)
c.5120-5T= (p.=)
c.5210-5T= (p.=)
c.5207-5T= (p.=)
c.5162-5T= (p.=)
c.4286-5T= (p.=)
c.4055-5T= (p.=)
c.4196-5T= (p.=)
10g.94298377A>CCA377641646PLCE1c.5168-2A>C (p.=)
c.4142-2A>C (p.=)
n.3723-2A>C
n.3284-2A>C (p.=)
n.4244-2A>C (p.=)
c.*1101-2A>C (p.=)
n.4437-2A>C
c.4013-2A>C (p.=)
c.4244-2A>C (p.=)
c.5120-2A>C (p.=)
c.5210-2A>C (p.=)
c.5207-2A>C (p.=)
c.5162-2A>C (p.=)
c.4286-2A>C (p.=)
c.4055-2A>C (p.=)
c.4196-2A>C (p.=)
10g.94298377A>GCA377641647PLCE1c.5168-2A>G (p.=)
c.4142-2A>G (p.=)
n.3723-2A>G
n.3284-2A>G (p.=)
n.4244-2A>G (p.=)
c.*1101-2A>G (p.=)
n.4437-2A>G
c.4013-2A>G (p.=)
c.4244-2A>G (p.=)
c.5120-2A>G (p.=)
c.5210-2A>G (p.=)
c.5207-2A>G (p.=)
c.5162-2A>G (p.=)
c.4286-2A>G (p.=)
c.4055-2A>G (p.=)
c.4196-2A>G (p.=)
10g.94298377A>TCA377641648PLCE1c.5168-2A>T (p.=)
c.4142-2A>T (p.=)
n.3723-2A>T
n.3284-2A>T (p.=)
n.4244-2A>T (p.=)
c.*1101-2A>T (p.=)
n.4437-2A>T
c.4013-2A>T (p.=)
c.4244-2A>T (p.=)
c.5120-2A>T (p.=)
c.5210-2A>T (p.=)
c.5207-2A>T (p.=)
c.5162-2A>T (p.=)
c.4286-2A>T (p.=)
c.4055-2A>T (p.=)
c.4196-2A>T (p.=)
10g.94298378G>ACA377641649PLCE1c.5168-1G>A (p.=)
c.4142-1G>A (p.=)
n.3723-1G>A
n.3284-1G>A (p.=)
n.4244-1G>A (p.=)
c.*1101-1G>A (p.=)
n.4437-1G>A
c.4013-1G>A (p.=)
c.4244-1G>A (p.=)
c.5120-1G>A (p.=)
c.5210-1G>A (p.=)
c.5207-1G>A (p.=)
c.5162-1G>A (p.=)
c.4286-1G>A (p.=)
c.4055-1G>A (p.=)
c.4196-1G>A (p.=)
10g.94298378G>CCA377641650PLCE1c.5168-1G>C (p.=)
c.4142-1G>C (p.=)
n.3723-1G>C
n.3284-1G>C (p.=)
n.4244-1G>C (p.=)
c.*1101-1G>C (p.=)
n.4437-1G>C
c.4013-1G>C (p.=)
c.4244-1G>C (p.=)
c.5120-1G>C (p.=)
c.5210-1G>C (p.=)
c.5207-1G>C (p.=)
c.5162-1G>C (p.=)
c.4286-1G>C (p.=)
c.4055-1G>C (p.=)
c.4196-1G>C (p.=)
10g.94298378G=CA1928998363PLCE1c.5168-1G= (p.=)
c.4142-1G= (p.=)
n.3723-1G=
n.3284-1G= (p.=)
n.4244-1G= (p.=)
c.*1101-1G= (p.=)
n.4437-1G=
c.4013-1G= (p.=)
c.4244-1G= (p.=)
c.5120-1G= (p.=)
c.5210-1G= (p.=)
c.5207-1G= (p.=)
c.5162-1G= (p.=)
c.4286-1G= (p.=)
c.4055-1G= (p.=)
c.4196-1G= (p.=)
10g.94298378G>TCA211599506PLCE1c.5168-1G>T (p.=)
c.4142-1G>T (p.=)
n.3723-1G>T
n.3284-1G>T (p.=)
n.4244-1G>T (p.=)
c.*1101-1G>T (p.=)
n.4437-1G>T
c.4013-1G>T (p.=)
c.4244-1G>T (p.=)
c.5120-1G>T (p.=)
c.5210-1G>T (p.=)
c.5207-1G>T (p.=)
c.5162-1G>T (p.=)
c.4286-1G>T (p.=)
c.4055-1G>T (p.=)
c.4196-1G>T (p.=)
dbSNP
10g.94298379G>ACA211599510PLCE1c.5168G>A (p.Ser1723Asn)
c.4142G>A (p.Ser1381Asn)
n.3723G>A
n.3284G>A (p.Ser1095Asn)
n.4244G>A (p.Ser1415Asn)
c.*1101G>A (p.=)
n.4437G>A
c.4013G>A (p.Ser1338Asn)
c.4244G>A (p.Ser1415Asn)
c.5120G>A (p.Ser1707Asn)
c.5210G>A (p.Ser1737Asn)
c.5207G>A (p.Ser1736Asn)
c.5162G>A (p.Ser1721Asn)
c.4286G>A (p.Ser1429Asn)
c.4055G>A (p.Ser1352Asn)
c.4196G>A (p.Ser1399Asn)
dbSNP gnomAD
10g.94298379G>CCA377641651PLCE1c.5168G>C (p.Ser1723Thr)
c.4142G>C (p.Ser1381Thr)
n.3723G>C
n.3284G>C (p.Ser1095Thr)
n.4244G>C (p.Ser1415Thr)
c.*1101G>C (p.=)
n.4437G>C
c.4013G>C (p.Ser1338Thr)
c.4244G>C (p.Ser1415Thr)
c.5120G>C (p.Ser1707Thr)
c.5210G>C (p.Ser1737Thr)
c.5207G>C (p.Ser1736Thr)
c.5162G>C (p.Ser1721Thr)
c.4286G>C (p.Ser1429Thr)
c.4055G>C (p.Ser1352Thr)
c.4196G>C (p.Ser1399Thr)
10g.94298379G=CA1928998364PLCE1c.5168G= (p.Ser1723=)
c.4142G= (p.Ser1381=)
n.3723G=
n.3284G= (p.Ser1095=)
n.4244G= (p.Ser1415=)
c.*1101G= (p.=)
n.4437G=
c.4013G= (p.Ser1338=)
c.4244G= (p.Ser1415=)
c.5120G= (p.Ser1707=)
c.5210G= (p.Ser1737=)
c.5207G= (p.Ser1736=)
c.5162G= (p.Ser1721=)
c.4286G= (p.Ser1429=)
c.4055G= (p.Ser1352=)
c.4196G= (p.Ser1399=)
10g.94298379G>TCA377641652PLCE1c.5168G>T (p.Ser1723Ile)
c.4142G>T (p.Ser1381Ile)
n.3723G>T
n.3284G>T (p.Ser1095Ile)
n.4244G>T (p.Ser1415Ile)
c.*1101G>T (p.=)
n.4437G>T
c.4013G>T (p.Ser1338Ile)
c.4244G>T (p.Ser1415Ile)
c.5120G>T (p.Ser1707Ile)
c.5210G>T (p.Ser1737Ile)
c.5207G>T (p.Ser1736Ile)
c.5162G>T (p.Ser1721Ile)
c.4286G>T (p.Ser1429Ile)
c.4055G>T (p.Ser1352Ile)
c.4196G>T (p.Ser1399Ile)
10g.94298380T>ACA377641653PLCE1c.5169T>A (p.Ser1723Arg)
c.4143T>A (p.Ser1381Arg)
n.3724T>A
n.3285T>A (p.Ser1095Arg)
n.4245T>A (p.Ser1415Arg)
c.*1102T>A (p.=)
n.4438T>A
c.4014T>A (p.Ser1338Arg)
c.4245T>A (p.Ser1415Arg)
c.5121T>A (p.Ser1707Arg)
c.5211T>A (p.Ser1737Arg)
c.5208T>A (p.Ser1736Arg)
c.5163T>A (p.Ser1721Arg)
c.4287T>A (p.Ser1429Arg)
c.4056T>A (p.Ser1352Arg)
c.4197T>A (p.Ser1399Arg)
10g.94298380T>CCA470807916PLCE1c.5169T>C (p.Ser1723=)
c.4143T>C (p.Ser1381=)
n.3724T>C
n.3285T>C (p.Ser1095=)
n.4245T>C (p.Ser1415=)
c.*1102T>C (p.=)
n.4438T>C
c.4014T>C (p.Ser1338=)
c.4245T>C (p.Ser1415=)
c.5121T>C (p.Ser1707=)
c.5211T>C (p.Ser1737=)
c.5208T>C (p.Ser1736=)
c.5163T>C (p.Ser1721=)
c.4287T>C (p.Ser1429=)
c.4056T>C (p.Ser1352=)
c.4197T>C (p.Ser1399=)
COSMIC COSMIC COSMIC
10g.94298380T>GCA377641654PLCE1c.5169T>G (p.Ser1723Arg)
c.4143T>G (p.Ser1381Arg)
n.3724T>G
n.3285T>G (p.Ser1095Arg)
n.4245T>G (p.Ser1415Arg)
c.*1102T>G (p.=)
n.4438T>G
c.4014T>G (p.Ser1338Arg)
c.4245T>G (p.Ser1415Arg)
c.5121T>G (p.Ser1707Arg)
c.5211T>G (p.Ser1737Arg)
c.5208T>G (p.Ser1736Arg)
c.5163T>G (p.Ser1721Arg)
c.4287T>G (p.Ser1429Arg)
c.4056T>G (p.Ser1352Arg)
c.4197T>G (p.Ser1399Arg)
10g.94298381T>ACA377641655PLCE1c.5170T>A (p.Ser1724Thr)
c.4144T>A (p.Ser1382Thr)
n.3725T>A
n.3286T>A (p.Ser1096Thr)
n.4246T>A (p.Ser1416Thr)
c.*1103T>A (p.=)
n.4439T>A
c.4015T>A (p.Ser1339Thr)
c.4246T>A (p.Ser1416Thr)
c.5122T>A (p.Ser1708Thr)
c.5212T>A (p.Ser1738Thr)
c.5209T>A (p.Ser1737Thr)
c.5164T>A (p.Ser1722Thr)
c.4288T>A (p.Ser1430Thr)
c.4057T>A (p.Ser1353Thr)
c.4198T>A (p.Ser1400Thr)
10g.94298381T>CCA377641657PLCE1c.5170T>C (p.Ser1724Pro)
c.4144T>C (p.Ser1382Pro)
n.3725T>C
n.3286T>C (p.Ser1096Pro)
n.4246T>C (p.Ser1416Pro)
c.*1103T>C (p.=)
n.4439T>C
c.4015T>C (p.Ser1339Pro)
c.4246T>C (p.Ser1416Pro)
c.5122T>C (p.Ser1708Pro)
c.5212T>C (p.Ser1738Pro)
c.5209T>C (p.Ser1737Pro)
c.5164T>C (p.Ser1722Pro)
c.4288T>C (p.Ser1430Pro)
c.4057T>C (p.Ser1353Pro)
c.4198T>C (p.Ser1400Pro)
10g.94298381T>GCA377641656PLCE1c.5170T>G (p.Ser1724Ala)
c.4144T>G (p.Ser1382Ala)
n.3725T>G
n.3286T>G (p.Ser1096Ala)
n.4246T>G (p.Ser1416Ala)
c.*1103T>G (p.=)
n.4439T>G
c.4015T>G (p.Ser1339Ala)
c.4246T>G (p.Ser1416Ala)
c.5122T>G (p.Ser1708Ala)
c.5212T>G (p.Ser1738Ala)
c.5209T>G (p.Ser1737Ala)
c.5164T>G (p.Ser1722Ala)
c.4288T>G (p.Ser1430Ala)
c.4057T>G (p.Ser1353Ala)
c.4198T>G (p.Ser1400Ala)
10g.94298381_94298382delinsTCCA1928998365PLCE1c.5170_5171delinsTC (p.Ser1724=)
c.4144_4145delinsTC (p.Ser1382=)
n.3725_3726delinsTC
n.3286_3287delinsTC (p.Ser1096=)
n.4246_4247delinsTC (p.Ser1416=)
c.*1103_*1104delinsTC (p.=)
n.4439_4440delinsTC
c.4015_4016delinsTC (p.Ser1339=)
c.4246_4247delinsTC (p.Ser1416=)
c.5122_5123delinsTC (p.Ser1708=)
c.5212_5213delinsTC (p.Ser1738=)
c.5209_5210delinsTC (p.Ser1737=)
c.5164_5165delinsTC (p.Ser1722=)
c.4288_4289delinsTC (p.Ser1430=)
c.4057_4058delinsTC (p.Ser1353=)
c.4198_4199delinsTC (p.Ser1400=)
10g.94298382C>ACA377641658PLCE1c.5171C>A (p.Ser1724Tyr)
c.4145C>A (p.Ser1382Tyr)
n.3726C>A
n.3287C>A (p.Ser1096Tyr)
n.4247C>A (p.Ser1416Tyr)
c.*1104C>A (p.=)
n.4440C>A
c.4016C>A (p.Ser1339Tyr)
c.4247C>A (p.Ser1416Tyr)
c.5123C>A (p.Ser1708Tyr)
c.5213C>A (p.Ser1738Tyr)
c.5210C>A (p.Ser1737Tyr)
c.5165C>A (p.Ser1722Tyr)
c.4289C>A (p.Ser1430Tyr)
c.4058C>A (p.Ser1353Tyr)
c.4199C>A (p.Ser1400Tyr)
10g.94298382C>GCA377641659PLCE1c.5171C>G (p.Ser1724Cys)
c.4145C>G (p.Ser1382Cys)
n.3726C>G
n.3287C>G (p.Ser1096Cys)
n.4247C>G (p.Ser1416Cys)
c.*1104C>G (p.=)
n.4440C>G
c.4016C>G (p.Ser1339Cys)
c.4247C>G (p.Ser1416Cys)
c.5123C>G (p.Ser1708Cys)
c.5213C>G (p.Ser1738Cys)
c.5210C>G (p.Ser1737Cys)
c.5165C>G (p.Ser1722Cys)
c.4289C>G (p.Ser1430Cys)
c.4058C>G (p.Ser1353Cys)
c.4199C>G (p.Ser1400Cys)
10g.94298382C>TCA377641660PLCE1c.5171C>T (p.Ser1724Phe)
c.4145C>T (p.Ser1382Phe)
n.3726C>T
n.3287C>T (p.Ser1096Phe)
n.4247C>T (p.Ser1416Phe)
c.*1104C>T (p.=)
n.4440C>T
c.4016C>T (p.Ser1339Phe)
c.4247C>T (p.Ser1416Phe)
c.5123C>T (p.Ser1708Phe)
c.5213C>T (p.Ser1738Phe)
c.5210C>T (p.Ser1737Phe)
c.5165C>T (p.Ser1722Phe)
c.4289C>T (p.Ser1430Phe)
c.4058C>T (p.Ser1353Phe)
c.4199C>T (p.Ser1400Phe)
10g.94298383delCA891862859PLCE1c.5172del (p.Cys1725ValfsTer?)
c.4146del (p.Cys1383ValfsTer?)
n.3727del
n.3288del (p.Cys1097ValfsTer?)
n.4248del (p.Cys1417ValfsTer?)
c.*1105del (p.=)
n.4441del
c.4017del (p.Cys1340ValfsTer?)
c.4248del (p.Cys1417ValfsTer?)
c.5124del (p.Cys1709ValfsTer?)
c.5214del (p.Cys1739ValfsTer?)
c.5211del (p.Cys1738ValfsTer?)
c.5166del (p.Cys1723ValfsTer?)
c.4290del (p.Cys1431ValfsTer?)
c.4059del (p.Cys1354ValfsTer?)
c.4200del (p.Cys1401ValfsTer?)
ClinVar dbSNP
10g.94298383C>ACA470807917PLCE1c.5172C>A (p.Ser1724=)
c.4146C>A (p.Ser1382=)
n.3727C>A
n.3288C>A (p.Ser1096=)
n.4248C>A (p.Ser1416=)
c.*1105C>A (p.=)
n.4441C>A
c.4017C>A (p.Ser1339=)
c.4248C>A (p.Ser1416=)
c.5124C>A (p.Ser1708=)
c.5214C>A (p.Ser1738=)
c.5211C>A (p.Ser1737=)
c.5166C>A (p.Ser1722=)
c.4290C>A (p.Ser1430=)
c.4059C>A (p.Ser1353=)
c.4200C>A (p.Ser1400=)
10g.94298383C>GCA470807919PLCE1c.5172C>G (p.Ser1724=)
c.4146C>G (p.Ser1382=)
n.3727C>G
n.3288C>G (p.Ser1096=)
n.4248C>G (p.Ser1416=)
c.*1105C>G (p.=)
n.4441C>G
c.4017C>G (p.Ser1339=)
c.4248C>G (p.Ser1416=)
c.5124C>G (p.Ser1708=)
c.5214C>G (p.Ser1738=)
c.5211C>G (p.Ser1737=)
c.5166C>G (p.Ser1722=)
c.4290C>G (p.Ser1430=)
c.4059C>G (p.Ser1353=)
c.4200C>G (p.Ser1400=)
10g.94298383C>TCA470807918PLCE1c.5172C>T (p.Ser1724=)
c.4146C>T (p.Ser1382=)
n.3727C>T
n.3288C>T (p.Ser1096=)
n.4248C>T (p.Ser1416=)
c.*1105C>T (p.=)
n.4441C>T
c.4017C>T (p.Ser1339=)
c.4248C>T (p.Ser1416=)
c.5124C>T (p.Ser1708=)
c.5214C>T (p.Ser1738=)
c.5211C>T (p.Ser1737=)
c.5166C>T (p.Ser1722=)
c.4290C>T (p.Ser1430=)
c.4059C>T (p.Ser1353=)
c.4200C>T (p.Ser1400=)
10g.94298384T>ACA377641661PLCE1c.5173T>A (p.Cys1725Ser)
c.4147T>A (p.Cys1383Ser)
n.3728T>A
n.3289T>A (p.Cys1097Ser)
n.4249T>A (p.Cys1417Ser)
c.*1106T>A (p.=)
n.4442T>A
c.4018T>A (p.Cys1340Ser)
c.4249T>A (p.Cys1417Ser)
c.5125T>A (p.Cys1709Ser)
c.5215T>A (p.Cys1739Ser)
c.5212T>A (p.Cys1738Ser)
c.5167T>A (p.Cys1723Ser)
c.4291T>A (p.Cys1431Ser)
c.4060T>A (p.Cys1354Ser)
c.4201T>A (p.Cys1401Ser)
10g.94298384T>CCA377641662PLCE1c.5173T>C (p.Cys1725Arg)
c.4147T>C (p.Cys1383Arg)
n.3728T>C
n.3289T>C (p.Cys1097Arg)
n.4249T>C (p.Cys1417Arg)
c.*1106T>C (p.=)
n.4442T>C
c.4018T>C (p.Cys1340Arg)
c.4249T>C (p.Cys1417Arg)
c.5125T>C (p.Cys1709Arg)
c.5215T>C (p.Cys1739Arg)
c.5212T>C (p.Cys1738Arg)
c.5167T>C (p.Cys1723Arg)
c.4291T>C (p.Cys1431Arg)
c.4060T>C (p.Cys1354Arg)
c.4201T>C (p.Cys1401Arg)
10g.94298384T>GCA377641663PLCE1c.5173T>G (p.Cys1725Gly)
c.4147T>G (p.Cys1383Gly)
n.3728T>G
n.3289T>G (p.Cys1097Gly)
n.4249T>G (p.Cys1417Gly)
c.*1106T>G (p.=)
n.4442T>G
c.4018T>G (p.Cys1340Gly)
c.4249T>G (p.Cys1417Gly)
c.5125T>G (p.Cys1709Gly)
c.5215T>G (p.Cys1739Gly)
c.5212T>G (p.Cys1738Gly)
c.5167T>G (p.Cys1723Gly)
c.4291T>G (p.Cys1431Gly)
c.4060T>G (p.Cys1354Gly)
c.4201T>G (p.Cys1401Gly)
10g.94298385G>ACA377641665PLCE1c.5174G>A (p.Cys1725Tyr)
c.4148G>A (p.Cys1383Tyr)
n.3729G>A
n.3290G>A (p.Cys1097Tyr)
n.4250G>A (p.Cys1417Tyr)
c.*1107G>A (p.=)
n.4443G>A
c.4019G>A (p.Cys1340Tyr)
c.4250G>A (p.Cys1417Tyr)
c.5126G>A (p.Cys1709Tyr)
c.5216G>A (p.Cys1739Tyr)
c.5213G>A (p.Cys1738Tyr)
c.5168G>A (p.Cys1723Tyr)
c.4292G>A (p.Cys1431Tyr)
c.4061G>A (p.Cys1354Tyr)
c.4202G>A (p.Cys1401Tyr)
10g.94298385G>CCA377641664PLCE1c.5174G>C (p.Cys1725Ser)
c.4148G>C (p.Cys1383Ser)
n.3729G>C
n.3290G>C (p.Cys1097Ser)
n.4250G>C (p.Cys1417Ser)
c.*1107G>C (p.=)
n.4443G>C
c.4019G>C (p.Cys1340Ser)
c.4250G>C (p.Cys1417Ser)
c.5126G>C (p.Cys1709Ser)
c.5216G>C (p.Cys1739Ser)
c.5213G>C (p.Cys1738Ser)
c.5168G>C (p.Cys1723Ser)
c.4292G>C (p.Cys1431Ser)
c.4061G>C (p.Cys1354Ser)
c.4202G>C (p.Cys1401Ser)
10g.94298385G=CA1928998366PLCE1c.5174G= (p.Cys1725=)
c.4148G= (p.Cys1383=)
n.3729G=
n.3290G= (p.Cys1097=)
n.4250G= (p.Cys1417=)
c.*1107G= (p.=)
n.4443G=
c.4019G= (p.Cys1340=)
c.4250G= (p.Cys1417=)
c.5126G= (p.Cys1709=)
c.5216G= (p.Cys1739=)
c.5213G= (p.Cys1738=)
c.5168G= (p.Cys1723=)
c.4292G= (p.Cys1431=)
c.4061G= (p.Cys1354=)
c.4202G= (p.Cys1401=)
10g.94298385G>TCA5613310PLCE1c.5174G>T (p.Cys1725Phe)
c.4148G>T (p.Cys1383Phe)
n.3729G>T
n.3290G>T (p.Cys1097Phe)
n.4250G>T (p.Cys1417Phe)
c.*1107G>T (p.=)
n.4443G>T
c.4019G>T (p.Cys1340Phe)
c.4250G>T (p.Cys1417Phe)
c.5126G>T (p.Cys1709Phe)
c.5216G>T (p.Cys1739Phe)
c.5213G>T (p.Cys1738Phe)
c.5168G>T (p.Cys1723Phe)
c.4292G>T (p.Cys1431Phe)
c.4061G>T (p.Cys1354Phe)
c.4202G>T (p.Cys1401Phe)
dbSNP ExAC gnomAD
10g.94298386T>ACA377641666PLCE1c.5175T>A (p.Cys1725Ter)
c.4149T>A (p.Cys1383Ter)
n.3730T>A
n.3291T>A (p.Cys1097Ter)
n.4251T>A (p.Cys1417Ter)
c.*1108T>A (p.=)
n.4444T>A
c.4020T>A (p.Cys1340Ter)
c.4251T>A (p.Cys1417Ter)
c.5127T>A (p.Cys1709Ter)
c.5217T>A (p.Cys1739Ter)
c.5214T>A (p.Cys1738Ter)
c.5169T>A (p.Cys1723Ter)
c.4293T>A (p.Cys1431Ter)
c.4062T>A (p.Cys1354Ter)
c.4203T>A (p.Cys1401Ter)
10g.94298386T>CCA5613312PLCE1c.5175T>C (p.Cys1725=)
c.4149T>C (p.Cys1383=)
n.3730T>C
n.3291T>C (p.Cys1097=)
n.4251T>C (p.Cys1417=)
c.*1108T>C (p.=)
n.4444T>C
c.4020T>C (p.Cys1340=)
c.4251T>C (p.Cys1417=)
c.5127T>C (p.Cys1709=)
c.5217T>C (p.Cys1739=)
c.5214T>C (p.Cys1738=)
c.5169T>C (p.Cys1723=)
c.4293T>C (p.Cys1431=)
c.4062T>C (p.Cys1354=)
c.4203T>C (p.Cys1401=)
ClinVar dbSNP ExAC gnomAD
10g.94298386T>GCA5613311PLCE1c.5175T>G (p.Cys1725Trp)
c.4149T>G (p.Cys1383Trp)
n.3730T>G
n.3291T>G (p.Cys1097Trp)
n.4251T>G (p.Cys1417Trp)
c.*1108T>G (p.=)
n.4444T>G
c.4020T>G (p.Cys1340Trp)
c.4251T>G (p.Cys1417Trp)
c.5127T>G (p.Cys1709Trp)
c.5217T>G (p.Cys1739Trp)
c.5214T>G (p.Cys1738Trp)
c.5169T>G (p.Cys1723Trp)
c.4293T>G (p.Cys1431Trp)
c.4062T>G (p.Cys1354Trp)
c.4203T>G (p.Cys1401Trp)
dbSNP ExAC gnomAD
10g.94298386T=CA1928998367PLCE1c.5175T= (p.Cys1725=)
c.4149T= (p.Cys1383=)
n.3730T=
n.3291T= (p.Cys1097=)
n.4251T= (p.Cys1417=)
c.*1108T= (p.=)
n.4444T=
c.4020T= (p.Cys1340=)
c.4251T= (p.Cys1417=)
c.5127T= (p.Cys1709=)
c.5217T= (p.Cys1739=)
c.5214T= (p.Cys1738=)
c.5169T= (p.Cys1723=)
c.4293T= (p.Cys1431=)
c.4062T= (p.Cys1354=)
c.4203T= (p.Cys1401=)
10g.94298387G>ACA377641667PLCE1c.5176G>A (p.Glu1726Lys)
c.4150G>A (p.Glu1384Lys)
n.3731G>A
n.3292G>A (p.Glu1098Lys)
n.4252G>A (p.Glu1418Lys)
c.*1109G>A (p.=)
n.4445G>A
c.4021G>A (p.Glu1341Lys)
c.4252G>A (p.Glu1418Lys)
c.5128G>A (p.Glu1710Lys)
c.5218G>A (p.Glu1740Lys)
c.5215G>A (p.Glu1739Lys)
c.5170G>A (p.Glu1724Lys)
c.4294G>A (p.Glu1432Lys)
c.4063G>A (p.Glu1355Lys)
c.4204G>A (p.Glu1402Lys)
10g.94298387G>CCA377641668PLCE1c.5176G>C (p.Glu1726Gln)
c.4150G>C (p.Glu1384Gln)
n.3731G>C
n.3292G>C (p.Glu1098Gln)
n.4252G>C (p.Glu1418Gln)
c.*1109G>C (p.=)
n.4445G>C
c.4021G>C (p.Glu1341Gln)
c.4252G>C (p.Glu1418Gln)
c.5128G>C (p.Glu1710Gln)
c.5218G>C (p.Glu1740Gln)
c.5215G>C (p.Glu1739Gln)
c.5170G>C (p.Glu1724Gln)
c.4294G>C (p.Glu1432Gln)
c.4063G>C (p.Glu1355Gln)
c.4204G>C (p.Glu1402Gln)
10g.94298387G>TCA377641669PLCE1c.5176G>T (p.Glu1726Ter)
c.4150G>T (p.Glu1384Ter)
n.3731G>T
n.3292G>T (p.Glu1098Ter)
n.4252G>T (p.Glu1418Ter)
c.*1109G>T (p.=)
n.4445G>T
c.4021G>T (p.Glu1341Ter)
c.4252G>T (p.Glu1418Ter)
c.5128G>T (p.Glu1710Ter)
c.5218G>T (p.Glu1740Ter)
c.5215G>T (p.Glu1739Ter)
c.5170G>T (p.Glu1724Ter)
c.4294G>T (p.Glu1432Ter)
c.4063G>T (p.Glu1355Ter)
c.4204G>T (p.Glu1402Ter)
10g.94298388A>CCA377641670PLCE1c.5177A>C (p.Glu1726Ala)
c.4151A>C (p.Glu1384Ala)
n.3732A>C
n.3293A>C (p.Glu1098Ala)
n.4253A>C (p.Glu1418Ala)
c.*1110A>C (p.=)
n.4446A>C
c.4022A>C (p.Glu1341Ala)
c.4253A>C (p.Glu1418Ala)
c.5129A>C (p.Glu1710Ala)
c.5219A>C (p.Glu1740Ala)
c.5216A>C (p.Glu1739Ala)
c.5171A>C (p.Glu1724Ala)
c.4295A>C (p.Glu1432Ala)
c.4064A>C (p.Glu1355Ala)
c.4205A>C (p.Glu1402Ala)
10g.94298388A>GCA377641672PLCE1c.5177A>G (p.Glu1726Gly)
c.4151A>G (p.Glu1384Gly)
n.3732A>G
n.3293A>G (p.Glu1098Gly)
n.4253A>G (p.Glu1418Gly)
c.*1110A>G (p.=)
n.4446A>G
c.4022A>G (p.Glu1341Gly)
c.4253A>G (p.Glu1418Gly)
c.5129A>G (p.Glu1710Gly)
c.5219A>G (p.Glu1740Gly)
c.5216A>G (p.Glu1739Gly)
c.5171A>G (p.Glu1724Gly)
c.4295A>G (p.Glu1432Gly)
c.4064A>G (p.Glu1355Gly)
c.4205A>G (p.Glu1402Gly)

Number of alleles fetched