Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.94298541C>ACA377641998PLCE1c.4406C>A (p.Thr1469Asn)
c.*1873C>A (n.*1873C>A)
n.2065C>A
n.749C>A
c.*614C>A (n.*614C>A)
c.4358C>A (p.Thr1453Asn)
n.9538C>A
n.3003C>A
c.5198C>A (p.Thr1733Asn)
c.5282C>A (p.Thr1761Asn)
c.5330C>A (p.Thr1777Asn)
c.4304C>A (p.Thr1435Asn)
c.3885C>A
c.3446C>A (p.Thr1149Asn)
c.*1263C>A (n.*1263C>A)
c.4599C>A
c.5372C>A (p.Thr1791Asn)
c.5369C>A (p.Thr1790Asn)
c.5324C>A (p.Thr1775Asn)
c.4448C>A (p.Thr1483Asn)
c.4217C>A (p.Thr1406Asn)
dbSNP
10g.94298541C=CA1928998430PLCE1c.4406C= (p.Thr1469=)
c.*1873C= (n.*1873C=)
n.2065C=
n.749C=
c.*614C= (n.*614C=)
c.4358C= (p.Thr1453=)
n.9538C=
n.3003C=
c.5198C= (p.Thr1733=)
c.5282C= (p.Thr1761=)
c.5330C= (p.Thr1777=)
c.4304C= (p.Thr1435=)
c.3885C=
c.3446C= (p.Thr1149=)
c.*1263C= (n.*1263C=)
c.4599C=
c.5372C= (p.Thr1791=)
c.5369C= (p.Thr1790=)
c.5324C= (p.Thr1775=)
c.4448C= (p.Thr1483=)
c.4217C= (p.Thr1406=)
10g.94298541C>GCA377641999PLCE1c.4406C>G (p.Thr1469Ser)
c.*1873C>G (n.*1873C>G)
n.2065C>G
n.749C>G
c.*614C>G (n.*614C>G)
c.4358C>G (p.Thr1453Ser)
n.9538C>G
n.3003C>G
c.5198C>G (p.Thr1733Ser)
c.5282C>G (p.Thr1761Ser)
c.5330C>G (p.Thr1777Ser)
c.4304C>G (p.Thr1435Ser)
c.3885C>G
c.3446C>G (p.Thr1149Ser)
c.*1263C>G (n.*1263C>G)
c.4599C>G
c.5372C>G (p.Thr1791Ser)
c.5369C>G (p.Thr1790Ser)
c.5324C>G (p.Thr1775Ser)
c.4448C>G (p.Thr1483Ser)
c.4217C>G (p.Thr1406Ser)
10g.94298541C>TCA5613337PLCE1c.4406C>T (p.Thr1469Ile)
c.*1873C>T (n.*1873C>T)
n.2065C>T
n.749C>T
c.*614C>T (n.*614C>T)
c.4358C>T (p.Thr1453Ile)
n.9538C>T
n.3003C>T
c.5198C>T (p.Thr1733Ile)
c.5282C>T (p.Thr1761Ile)
c.5330C>T (p.Thr1777Ile)
c.4304C>T (p.Thr1435Ile)
c.3885C>T
c.3446C>T (p.Thr1149Ile)
c.*1263C>T (n.*1263C>T)
c.4599C>T
c.5372C>T (p.Thr1791Ile)
c.5369C>T (p.Thr1790Ile)
c.5324C>T (p.Thr1775Ile)
c.4448C>T (p.Thr1483Ile)
c.4217C>T (p.Thr1406Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298542_94298543delCA2789048720PLCE1c.4407_4408del (p.Gln1470AlafsTer?)
c.*1874_*1875del (n.*1874_*1875del)
n.2066_2067del
n.750_751del
c.*615_*616del (n.*615_*616del)
c.4359_4360del (p.Gln1454AlafsTer?)
n.9539_9540del
n.3004_3005del
c.5199_5200del (p.Gln1734AlafsTer?)
c.5283_5284del (p.Gln1762AlafsTer?)
c.5331_5332del (p.Gln1778AlafsTer?)
c.4305_4306del (p.Gln1436AlafsTer?)
c.3886_3887del
c.3447_3448del (p.Gln1150AlafsTer?)
c.*1264_*1265del (n.*1264_*1265del)
c.4600_4601del
c.5373_5374del (p.Gln1792AlafsTer?)
c.5370_5371del (p.Gln1791AlafsTer?)
c.5325_5326del (p.Gln1776AlafsTer?)
c.4449_4450del (p.Gln1484AlafsTer?)
c.4218_4219del (p.Gln1407AlafsTer?)
10g.94298542C>ACA470986554PLCE1c.4407C>A (p.Thr1469=)
c.*1874C>A (n.*1874C>A)
n.2066C>A
n.750C>A
c.*615C>A (n.*615C>A)
c.4359C>A (p.Thr1453=)
n.9539C>A
n.3004C>A
c.5199C>A (p.Thr1733=)
c.5283C>A (p.Thr1761=)
c.5331C>A (p.Thr1777=)
c.4305C>A (p.Thr1435=)
c.3886C>A
c.3447C>A (p.Thr1149=)
c.*1264C>A (n.*1264C>A)
c.4600C>A
c.5373C>A (p.Thr1791=)
c.5370C>A (p.Thr1790=)
c.5325C>A (p.Thr1775=)
c.4449C>A (p.Thr1483=)
c.4218C>A (p.Thr1406=)
10g.94298542C=CA1928998431PLCE1c.4407C= (p.Thr1469=)
c.*1874C= (n.*1874C=)
n.2066C=
n.750C=
c.*615C= (n.*615C=)
c.4359C= (p.Thr1453=)
n.9539C=
n.3004C=
c.5199C= (p.Thr1733=)
c.5283C= (p.Thr1761=)
c.5331C= (p.Thr1777=)
c.4305C= (p.Thr1435=)
c.3886C=
c.3447C= (p.Thr1149=)
c.*1264C= (n.*1264C=)
c.4600C=
c.5373C= (p.Thr1791=)
c.5370C= (p.Thr1790=)
c.5325C= (p.Thr1775=)
c.4449C= (p.Thr1483=)
c.4218C= (p.Thr1406=)
10g.94298542C>GCA470986553PLCE1c.4407C>G (p.Thr1469=)
c.*1874C>G (n.*1874C>G)
n.2066C>G
n.750C>G
c.*615C>G (n.*615C>G)
c.4359C>G (p.Thr1453=)
n.9539C>G
n.3004C>G
c.5199C>G (p.Thr1733=)
c.5283C>G (p.Thr1761=)
c.5331C>G (p.Thr1777=)
c.4305C>G (p.Thr1435=)
c.3886C>G
c.3447C>G (p.Thr1149=)
c.*1264C>G (n.*1264C>G)
c.4600C>G
c.5373C>G (p.Thr1791=)
c.5370C>G (p.Thr1790=)
c.5325C>G (p.Thr1775=)
c.4449C>G (p.Thr1483=)
c.4218C>G (p.Thr1406=)
10g.94298542C>TCA5613338PLCE1c.4407C>T (p.Thr1469=)
c.*1874C>T (n.*1874C>T)
n.2066C>T
n.750C>T
c.*615C>T (n.*615C>T)
c.4359C>T (p.Thr1453=)
n.9539C>T
n.3004C>T
c.5199C>T (p.Thr1733=)
c.5283C>T (p.Thr1761=)
c.5331C>T (p.Thr1777=)
c.4305C>T (p.Thr1435=)
c.3886C>T
c.3447C>T (p.Thr1149=)
c.*1264C>T (n.*1264C>T)
c.4600C>T
c.5373C>T (p.Thr1791=)
c.5370C>T (p.Thr1790=)
c.5325C>T (p.Thr1775=)
c.4449C>T (p.Thr1483=)
c.4218C>T (p.Thr1406=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298543C>ACA377642000PLCE1c.4408C>A (p.Gln1470Lys)
c.*1875C>A (n.*1875C>A)
n.2067C>A
n.751C>A
c.*616C>A (n.*616C>A)
c.4360C>A (p.Gln1454Lys)
n.9540C>A
n.3005C>A
c.5200C>A (p.Gln1734Lys)
c.5284C>A (p.Gln1762Lys)
c.5332C>A (p.Gln1778Lys)
c.4306C>A (p.Gln1436Lys)
c.3887C>A
c.3448C>A (p.Gln1150Lys)
c.*1265C>A (n.*1265C>A)
c.4601C>A
c.5374C>A (p.Gln1792Lys)
c.5371C>A (p.Gln1791Lys)
c.5326C>A (p.Gln1776Lys)
c.4450C>A (p.Gln1484Lys)
c.4219C>A (p.Gln1407Lys)
10g.94298543C>GCA377642001PLCE1c.4408C>G (p.Gln1470Glu)
c.*1875C>G (n.*1875C>G)
n.2067C>G
n.751C>G
c.*616C>G (n.*616C>G)
c.4360C>G (p.Gln1454Glu)
n.9540C>G
n.3005C>G
c.5200C>G (p.Gln1734Glu)
c.5284C>G (p.Gln1762Glu)
c.5332C>G (p.Gln1778Glu)
c.4306C>G (p.Gln1436Glu)
c.3887C>G
c.3448C>G (p.Gln1150Glu)
c.*1265C>G (n.*1265C>G)
c.4601C>G
c.5374C>G (p.Gln1792Glu)
c.5371C>G (p.Gln1791Glu)
c.5326C>G (p.Gln1776Glu)
c.4450C>G (p.Gln1484Glu)
c.4219C>G (p.Gln1407Glu)
10g.94298543C>TCA377642002PLCE1c.4408C>T (p.Gln1470Ter)
c.*1875C>T (n.*1875C>T)
n.2067C>T
n.751C>T
c.*616C>T (n.*616C>T)
c.4360C>T (p.Gln1454Ter)
n.9540C>T
n.3005C>T
c.5200C>T (p.Gln1734Ter)
c.5284C>T (p.Gln1762Ter)
c.5332C>T (p.Gln1778Ter)
c.4306C>T (p.Gln1436Ter)
c.3887C>T
c.3448C>T (p.Gln1150Ter)
c.*1265C>T (n.*1265C>T)
c.4601C>T
c.5374C>T (p.Gln1792Ter)
c.5371C>T (p.Gln1791Ter)
c.5326C>T (p.Gln1776Ter)
c.4450C>T (p.Gln1484Ter)
c.4219C>T (p.Gln1407Ter)
10g.94298544A>CCA377642003PLCE1c.4409A>C (p.Gln1470Pro)
c.*1876A>C (n.*1876A>C)
n.2068A>C
n.752A>C
c.*617A>C (n.*617A>C)
c.4361A>C (p.Gln1454Pro)
n.9541A>C
n.3006A>C
c.5201A>C (p.Gln1734Pro)
c.5285A>C (p.Gln1762Pro)
c.5333A>C (p.Gln1778Pro)
c.4307A>C (p.Gln1436Pro)
c.3888A>C
c.3449A>C (p.Gln1150Pro)
c.*1266A>C (n.*1266A>C)
c.4602A>C
c.5375A>C (p.Gln1792Pro)
c.5372A>C (p.Gln1791Pro)
c.5327A>C (p.Gln1776Pro)
c.4451A>C (p.Gln1484Pro)
c.4220A>C (p.Gln1407Pro)
10g.94298544A>GCA377642004PLCE1c.4409A>G (p.Gln1470Arg)
c.*1876A>G (n.*1876A>G)
n.2068A>G
n.752A>G
c.*617A>G (n.*617A>G)
c.4361A>G (p.Gln1454Arg)
n.9541A>G
n.3006A>G
c.5201A>G (p.Gln1734Arg)
c.5285A>G (p.Gln1762Arg)
c.5333A>G (p.Gln1778Arg)
c.4307A>G (p.Gln1436Arg)
c.3888A>G
c.3449A>G (p.Gln1150Arg)
c.*1266A>G (n.*1266A>G)
c.4602A>G
c.5375A>G (p.Gln1792Arg)
c.5372A>G (p.Gln1791Arg)
c.5327A>G (p.Gln1776Arg)
c.4451A>G (p.Gln1484Arg)
c.4220A>G (p.Gln1407Arg)
10g.94298544A>TCA377642005PLCE1c.4409A>T (p.Gln1470Leu)
c.*1876A>T (n.*1876A>T)
n.2068A>T
n.752A>T
c.*617A>T (n.*617A>T)
c.4361A>T (p.Gln1454Leu)
n.9541A>T
n.3006A>T
c.5201A>T (p.Gln1734Leu)
c.5285A>T (p.Gln1762Leu)
c.5333A>T (p.Gln1778Leu)
c.4307A>T (p.Gln1436Leu)
c.3888A>T
c.3449A>T (p.Gln1150Leu)
c.*1266A>T (n.*1266A>T)
c.4602A>T
c.5375A>T (p.Gln1792Leu)
c.5372A>T (p.Gln1791Leu)
c.5327A>T (p.Gln1776Leu)
c.4451A>T (p.Gln1484Leu)
c.4220A>T (p.Gln1407Leu)
10g.94298545G>ACA470986555PLCE1c.4410G>A (p.Gln1470=)
c.*1877G>A (n.*1877G>A)
n.2069G>A
n.753G>A
c.*618G>A (n.*618G>A)
c.4362G>A (p.Gln1454=)
n.9542G>A
n.3007G>A
c.5202G>A (p.Gln1734=)
c.5286G>A (p.Gln1762=)
c.5334G>A (p.Gln1778=)
c.4308G>A (p.Gln1436=)
c.3889G>A
c.3450G>A (p.Gln1150=)
c.*1267G>A (n.*1267G>A)
c.4603G>A
c.5376G>A (p.Gln1792=)
c.5373G>A (p.Gln1791=)
c.5328G>A (p.Gln1776=)
c.4452G>A (p.Gln1484=)
c.4221G>A (p.Gln1407=)
10g.94298545G>CCA5613339PLCE1c.4410G>C (p.Gln1470His)
c.*1877G>C (n.*1877G>C)
n.2069G>C
n.753G>C
c.*618G>C (n.*618G>C)
c.4362G>C (p.Gln1454His)
n.9542G>C
n.3007G>C
c.5202G>C (p.Gln1734His)
c.5286G>C (p.Gln1762His)
c.5334G>C (p.Gln1778His)
c.4308G>C (p.Gln1436His)
c.3889G>C
c.3450G>C (p.Gln1150His)
c.*1267G>C (n.*1267G>C)
c.4603G>C
c.5376G>C (p.Gln1792His)
c.5373G>C (p.Gln1791His)
c.5328G>C (p.Gln1776His)
c.4452G>C (p.Gln1484His)
c.4221G>C (p.Gln1407His)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298545G=CA1928998432PLCE1c.4410G= (p.Gln1470=)
c.*1877G= (n.*1877G=)
n.2069G=
n.753G=
c.*618G= (n.*618G=)
c.4362G= (p.Gln1454=)
n.9542G=
n.3007G=
c.5202G= (p.Gln1734=)
c.5286G= (p.Gln1762=)
c.5334G= (p.Gln1778=)
c.4308G= (p.Gln1436=)
c.3889G=
c.3450G= (p.Gln1150=)
c.*1267G= (n.*1267G=)
c.4603G=
c.5376G= (p.Gln1792=)
c.5373G= (p.Gln1791=)
c.5328G= (p.Gln1776=)
c.4452G= (p.Gln1484=)
c.4221G= (p.Gln1407=)
10g.94298545G>TCA377642006PLCE1c.4410G>T (p.Gln1470His)
c.*1877G>T (n.*1877G>T)
n.2069G>T
n.753G>T
c.*618G>T (n.*618G>T)
c.4362G>T (p.Gln1454His)
n.9542G>T
n.3007G>T
c.5202G>T (p.Gln1734His)
c.5286G>T (p.Gln1762His)
c.5334G>T (p.Gln1778His)
c.4308G>T (p.Gln1436His)
c.3889G>T
c.3450G>T (p.Gln1150His)
c.*1267G>T (n.*1267G>T)
c.4603G>T
c.5376G>T (p.Gln1792His)
c.5373G>T (p.Gln1791His)
c.5328G>T (p.Gln1776His)
c.4452G>T (p.Gln1484His)
c.4221G>T (p.Gln1407His)
10g.94298546C>ACA377642007PLCE1c.4411C>A (p.His1471Asn)
c.*1878C>A (n.*1878C>A)
n.2070C>A
n.754C>A
c.*619C>A (n.*619C>A)
c.4363C>A (p.His1455Asn)
n.9543C>A
n.3008C>A
c.5203C>A (p.His1735Asn)
c.5287C>A (p.His1763Asn)
c.5335C>A (p.His1779Asn)
c.4309C>A (p.His1437Asn)
c.3890C>A
c.3451C>A (p.His1151Asn)
c.*1268C>A (n.*1268C>A)
c.4604C>A
c.5377C>A (p.His1793Asn)
c.5374C>A (p.His1792Asn)
c.5329C>A (p.His1777Asn)
c.4453C>A (p.His1485Asn)
c.4222C>A (p.His1408Asn)
10g.94298546C>GCA377642008PLCE1c.4411C>G (p.His1471Asp)
c.*1878C>G (n.*1878C>G)
n.2070C>G
n.754C>G
c.*619C>G (n.*619C>G)
c.4363C>G (p.His1455Asp)
n.9543C>G
n.3008C>G
c.5203C>G (p.His1735Asp)
c.5287C>G (p.His1763Asp)
c.5335C>G (p.His1779Asp)
c.4309C>G (p.His1437Asp)
c.3890C>G
c.3451C>G (p.His1151Asp)
c.*1268C>G (n.*1268C>G)
c.4604C>G
c.5377C>G (p.His1793Asp)
c.5374C>G (p.His1792Asp)
c.5329C>G (p.His1777Asp)
c.4453C>G (p.His1485Asp)
c.4222C>G (p.His1408Asp)
10g.94298546C>TCA377642009PLCE1c.4411C>T (p.His1471Tyr)
c.*1878C>T (n.*1878C>T)
n.2070C>T
n.754C>T
c.*619C>T (n.*619C>T)
c.4363C>T (p.His1455Tyr)
n.9543C>T
n.3008C>T
c.5203C>T (p.His1735Tyr)
c.5287C>T (p.His1763Tyr)
c.5335C>T (p.His1779Tyr)
c.4309C>T (p.His1437Tyr)
c.3890C>T
c.3451C>T (p.His1151Tyr)
c.*1268C>T (n.*1268C>T)
c.4604C>T
c.5377C>T (p.His1793Tyr)
c.5374C>T (p.His1792Tyr)
c.5329C>T (p.His1777Tyr)
c.4453C>T (p.His1485Tyr)
c.4222C>T (p.His1408Tyr)
10g.94298546_94298551delCA2789048721PLCE1c.4411_4416del (p.His1471_Thr1472del)
c.*1878_*1883del (n.*1878_*1883del)
n.2070_2075del
n.754_759del
c.*619_*624del (n.*619_*624del)
c.4363_4368del (p.His1455_Thr1456del)
n.9543_9548del
n.3008_3013del
c.5203_5208del (p.His1735_Thr1736del)
c.5287_5292del (p.His1763_Thr1764del)
c.5335_5340del (p.His1779_Thr1780del)
c.4309_4314del (p.His1437_Thr1438del)
c.3890_3895del
c.3451_3456del (p.His1151_Thr1152del)
c.*1268_*1273del (n.*1268_*1273del)
c.4604_4609del
c.5377_5382del (p.His1793_Thr1794del)
c.5374_5379del (p.His1792_Thr1793del)
c.5329_5334del (p.His1777_Thr1778del)
c.4453_4458del (p.His1485_Thr1486del)
c.4222_4227del (p.His1408_Thr1409del)
10g.94298547A>CCA377642010PLCE1c.4412A>C (p.His1471Pro)
c.*1879A>C (n.*1879A>C)
n.2071A>C
n.755A>C
c.*620A>C (n.*620A>C)
c.4364A>C (p.His1455Pro)
n.9544A>C
n.3009A>C
c.5204A>C (p.His1735Pro)
c.5288A>C (p.His1763Pro)
c.5336A>C (p.His1779Pro)
c.4310A>C (p.His1437Pro)
c.3891A>C
c.3452A>C (p.His1151Pro)
c.*1269A>C (n.*1269A>C)
c.4605A>C
c.5378A>C (p.His1793Pro)
c.5375A>C (p.His1792Pro)
c.5330A>C (p.His1777Pro)
c.4454A>C (p.His1485Pro)
c.4223A>C (p.His1408Pro)
10g.94298547A>GCA377642011PLCE1c.4412A>G (p.His1471Arg)
c.*1879A>G (n.*1879A>G)
n.2071A>G
n.755A>G
c.*620A>G (n.*620A>G)
c.4364A>G (p.His1455Arg)
n.9544A>G
n.3009A>G
c.5204A>G (p.His1735Arg)
c.5288A>G (p.His1763Arg)
c.5336A>G (p.His1779Arg)
c.4310A>G (p.His1437Arg)
c.3891A>G
c.3452A>G (p.His1151Arg)
c.*1269A>G (n.*1269A>G)
c.4605A>G
c.5378A>G (p.His1793Arg)
c.5375A>G (p.His1792Arg)
c.5330A>G (p.His1777Arg)
c.4454A>G (p.His1485Arg)
c.4223A>G (p.His1408Arg)
10g.94298547A>TCA377642012PLCE1c.4412A>T (p.His1471Leu)
c.*1879A>T (n.*1879A>T)
n.2071A>T
n.755A>T
c.*620A>T (n.*620A>T)
c.4364A>T (p.His1455Leu)
n.9544A>T
n.3009A>T
c.5204A>T (p.His1735Leu)
c.5288A>T (p.His1763Leu)
c.5336A>T (p.His1779Leu)
c.4310A>T (p.His1437Leu)
c.3891A>T
c.3452A>T (p.His1151Leu)
c.*1269A>T (n.*1269A>T)
c.4605A>T
c.5378A>T (p.His1793Leu)
c.5375A>T (p.His1792Leu)
c.5330A>T (p.His1777Leu)
c.4454A>T (p.His1485Leu)
c.4223A>T (p.His1408Leu)
10g.94298548C>ACA377642013PLCE1c.4413C>A (p.His1471Gln)
c.*1880C>A (n.*1880C>A)
n.2072C>A
n.756C>A
c.*621C>A (n.*621C>A)
c.4365C>A (p.His1455Gln)
n.9545C>A
n.3010C>A
c.5205C>A (p.His1735Gln)
c.5289C>A (p.His1763Gln)
c.5337C>A (p.His1779Gln)
c.4311C>A (p.His1437Gln)
c.3892C>A
c.3453C>A (p.His1151Gln)
c.*1270C>A (n.*1270C>A)
c.4606C>A
c.5379C>A (p.His1793Gln)
c.5376C>A (p.His1792Gln)
c.5331C>A (p.His1777Gln)
c.4455C>A (p.His1485Gln)
c.4224C>A (p.His1408Gln)
10g.94298548C=CA1928998433PLCE1c.4413C= (p.His1471=)
c.*1880C= (n.*1880C=)
n.2072C=
n.756C=
c.*621C= (n.*621C=)
c.4365C= (p.His1455=)
n.9545C=
n.3010C=
c.5205C= (p.His1735=)
c.5289C= (p.His1763=)
c.5337C= (p.His1779=)
c.4311C= (p.His1437=)
c.3892C=
c.3453C= (p.His1151=)
c.*1270C= (n.*1270C=)
c.4606C=
c.5379C= (p.His1793=)
c.5376C= (p.His1792=)
c.5331C= (p.His1777=)
c.4455C= (p.His1485=)
c.4224C= (p.His1408=)
10g.94298548C>GCA377642014PLCE1c.4413C>G (p.His1471Gln)
c.*1880C>G (n.*1880C>G)
n.2072C>G
n.756C>G
c.*621C>G (n.*621C>G)
c.4365C>G (p.His1455Gln)
n.9545C>G
n.3010C>G
c.5205C>G (p.His1735Gln)
c.5289C>G (p.His1763Gln)
c.5337C>G (p.His1779Gln)
c.4311C>G (p.His1437Gln)
c.3892C>G
c.3453C>G (p.His1151Gln)
c.*1270C>G (n.*1270C>G)
c.4606C>G
c.5379C>G (p.His1793Gln)
c.5376C>G (p.His1792Gln)
c.5331C>G (p.His1777Gln)
c.4455C>G (p.His1485Gln)
c.4224C>G (p.His1408Gln)
10g.94298548C>TCA470986557PLCE1c.4413C>T (p.His1471=)
c.*1880C>T (n.*1880C>T)
n.2072C>T
n.756C>T
c.*621C>T (n.*621C>T)
c.4365C>T (p.His1455=)
n.9545C>T
n.3010C>T
c.5205C>T (p.His1735=)
c.5289C>T (p.His1763=)
c.5337C>T (p.His1779=)
c.4311C>T (p.His1437=)
c.3892C>T
c.3453C>T (p.His1151=)
c.*1270C>T (n.*1270C>T)
c.4606C>T
c.5379C>T (p.His1793=)
c.5376C>T (p.His1792=)
c.5331C>T (p.His1777=)
c.4455C>T (p.His1485=)
c.4224C>T (p.His1408=)
dbSNP gnomAD v3 gnomAD v4
10g.94298549A>CCA377642015PLCE1c.4414A>C (p.Thr1472Pro)
c.*1881A>C (n.*1881A>C)
n.2073A>C
n.757A>C
c.*622A>C (n.*622A>C)
c.4366A>C (p.Thr1456Pro)
n.9546A>C
n.3011A>C
c.5206A>C (p.Thr1736Pro)
c.5290A>C (p.Thr1764Pro)
c.5338A>C (p.Thr1780Pro)
c.4312A>C (p.Thr1438Pro)
c.3893A>C
c.3454A>C (p.Thr1152Pro)
c.*1271A>C (n.*1271A>C)
c.4607A>C
c.5380A>C (p.Thr1794Pro)
c.5377A>C (p.Thr1793Pro)
c.5332A>C (p.Thr1778Pro)
c.4456A>C (p.Thr1486Pro)
c.4225A>C (p.Thr1409Pro)
10g.94298549A>GCA377642016PLCE1c.4414A>G (p.Thr1472Ala)
c.*1881A>G (n.*1881A>G)
n.2073A>G
n.757A>G
c.*622A>G (n.*622A>G)
c.4366A>G (p.Thr1456Ala)
n.9546A>G
n.3011A>G
c.5206A>G (p.Thr1736Ala)
c.5290A>G (p.Thr1764Ala)
c.5338A>G (p.Thr1780Ala)
c.4312A>G (p.Thr1438Ala)
c.3893A>G
c.3454A>G (p.Thr1152Ala)
c.*1271A>G (n.*1271A>G)
c.4607A>G
c.5380A>G (p.Thr1794Ala)
c.5377A>G (p.Thr1793Ala)
c.5332A>G (p.Thr1778Ala)
c.4456A>G (p.Thr1486Ala)
c.4225A>G (p.Thr1409Ala)
10g.94298549A>TCA377642017PLCE1c.4414A>T (p.Thr1472Ser)
c.*1881A>T (n.*1881A>T)
n.2073A>T
n.757A>T
c.*622A>T (n.*622A>T)
c.4366A>T (p.Thr1456Ser)
n.9546A>T
n.3011A>T
c.5206A>T (p.Thr1736Ser)
c.5290A>T (p.Thr1764Ser)
c.5338A>T (p.Thr1780Ser)
c.4312A>T (p.Thr1438Ser)
c.3893A>T
c.3454A>T (p.Thr1152Ser)
c.*1271A>T (n.*1271A>T)
c.4607A>T
c.5380A>T (p.Thr1794Ser)
c.5377A>T (p.Thr1793Ser)
c.5332A>T (p.Thr1778Ser)
c.4456A>T (p.Thr1486Ser)
c.4225A>T (p.Thr1409Ser)
10g.94298550C>ACA377642018PLCE1c.4415C>A (p.Thr1472Asn)
c.*1882C>A (n.*1882C>A)
n.2074C>A
n.758C>A
c.*623C>A (n.*623C>A)
c.4367C>A (p.Thr1456Asn)
n.9547C>A
n.3012C>A
c.5207C>A (p.Thr1736Asn)
c.5291C>A (p.Thr1764Asn)
c.5339C>A (p.Thr1780Asn)
c.4313C>A (p.Thr1438Asn)
c.3894C>A
c.3455C>A (p.Thr1152Asn)
c.*1272C>A (n.*1272C>A)
c.4608C>A
c.5381C>A (p.Thr1794Asn)
c.5378C>A (p.Thr1793Asn)
c.5333C>A (p.Thr1778Asn)
c.4457C>A (p.Thr1486Asn)
c.4226C>A (p.Thr1409Asn)
dbSNP
10g.94298550C=CA1928998434PLCE1c.4415C= (p.Thr1472=)
c.*1882C= (n.*1882C=)
n.2074C=
n.758C=
c.*623C= (n.*623C=)
c.4367C= (p.Thr1456=)
n.9547C=
n.3012C=
c.5207C= (p.Thr1736=)
c.5291C= (p.Thr1764=)
c.5339C= (p.Thr1780=)
c.4313C= (p.Thr1438=)
c.3894C=
c.3455C= (p.Thr1152=)
c.*1272C= (n.*1272C=)
c.4608C=
c.5381C= (p.Thr1794=)
c.5378C= (p.Thr1793=)
c.5333C= (p.Thr1778=)
c.4457C= (p.Thr1486=)
c.4226C= (p.Thr1409=)
10g.94298550C>GCA377642019PLCE1c.4415C>G (p.Thr1472Ser)
c.*1882C>G (n.*1882C>G)
n.2074C>G
n.758C>G
c.*623C>G (n.*623C>G)
c.4367C>G (p.Thr1456Ser)
n.9547C>G
n.3012C>G
c.5207C>G (p.Thr1736Ser)
c.5291C>G (p.Thr1764Ser)
c.5339C>G (p.Thr1780Ser)
c.4313C>G (p.Thr1438Ser)
c.3894C>G
c.3455C>G (p.Thr1152Ser)
c.*1272C>G (n.*1272C>G)
c.4608C>G
c.5381C>G (p.Thr1794Ser)
c.5378C>G (p.Thr1793Ser)
c.5333C>G (p.Thr1778Ser)
c.4457C>G (p.Thr1486Ser)
c.4226C>G (p.Thr1409Ser)
10g.94298550C>TCA5613340PLCE1c.4415C>T (p.Thr1472Ile)
c.*1882C>T (n.*1882C>T)
n.2074C>T
n.758C>T
c.*623C>T (n.*623C>T)
c.4367C>T (p.Thr1456Ile)
n.9547C>T
n.3012C>T
c.5207C>T (p.Thr1736Ile)
c.5291C>T (p.Thr1764Ile)
c.5339C>T (p.Thr1780Ile)
c.4313C>T (p.Thr1438Ile)
c.3894C>T
c.3455C>T (p.Thr1152Ile)
c.*1272C>T (n.*1272C>T)
c.4608C>T
c.5381C>T (p.Thr1794Ile)
c.5378C>T (p.Thr1793Ile)
c.5333C>T (p.Thr1778Ile)
c.4457C>T (p.Thr1486Ile)
c.4226C>T (p.Thr1409Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298551C>ACA470986559PLCE1c.4416C>A (p.Thr1472=)
c.*1883C>A (n.*1883C>A)
n.2075C>A
n.759C>A
c.*624C>A (n.*624C>A)
c.4368C>A (p.Thr1456=)
n.9548C>A
n.3013C>A
c.5208C>A (p.Thr1736=)
c.5292C>A (p.Thr1764=)
c.5340C>A (p.Thr1780=)
c.4314C>A (p.Thr1438=)
c.3895C>A
c.3456C>A (p.Thr1152=)
c.*1273C>A (n.*1273C>A)
c.4609C>A
c.5382C>A (p.Thr1794=)
c.5379C>A (p.Thr1793=)
c.5334C>A (p.Thr1778=)
c.4458C>A (p.Thr1486=)
c.4227C>A (p.Thr1409=)
dbSNP
10g.94298551C=CA1928998435PLCE1c.4416C= (p.Thr1472=)
c.*1883C= (n.*1883C=)
n.2075C=
n.759C=
c.*624C= (n.*624C=)
c.4368C= (p.Thr1456=)
n.9548C=
n.3013C=
c.5208C= (p.Thr1736=)
c.5292C= (p.Thr1764=)
c.5340C= (p.Thr1780=)
c.4314C= (p.Thr1438=)
c.3895C=
c.3456C= (p.Thr1152=)
c.*1273C= (n.*1273C=)
c.4609C=
c.5382C= (p.Thr1794=)
c.5379C= (p.Thr1793=)
c.5334C= (p.Thr1778=)
c.4458C= (p.Thr1486=)
c.4227C= (p.Thr1409=)
10g.94298551C>GCA470986560PLCE1c.4416C>G (p.Thr1472=)
c.*1883C>G (n.*1883C>G)
n.2075C>G
n.759C>G
c.*624C>G (n.*624C>G)
c.4368C>G (p.Thr1456=)
n.9548C>G
n.3013C>G
c.5208C>G (p.Thr1736=)
c.5292C>G (p.Thr1764=)
c.5340C>G (p.Thr1780=)
c.4314C>G (p.Thr1438=)
c.3895C>G
c.3456C>G (p.Thr1152=)
c.*1273C>G (n.*1273C>G)
c.4609C>G
c.5382C>G (p.Thr1794=)
c.5379C>G (p.Thr1793=)
c.5334C>G (p.Thr1778=)
c.4458C>G (p.Thr1486=)
c.4227C>G (p.Thr1409=)
10g.94298551C>TCA5613341PLCE1c.4416C>T (p.Thr1472=)
c.*1883C>T (n.*1883C>T)
n.2075C>T
n.759C>T
c.*624C>T (n.*624C>T)
c.4368C>T (p.Thr1456=)
n.9548C>T
n.3013C>T
c.5208C>T (p.Thr1736=)
c.5292C>T (p.Thr1764=)
c.5340C>T (p.Thr1780=)
c.4314C>T (p.Thr1438=)
c.3895C>T
c.3456C>T (p.Thr1152=)
c.*1273C>T (n.*1273C>T)
c.4609C>T
c.5382C>T (p.Thr1794=)
c.5379C>T (p.Thr1793=)
c.5334C>T (p.Thr1778=)
c.4458C>T (p.Thr1486=)
c.4227C>T (p.Thr1409=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298552G>ACA5613342PLCE1c.4417G>A (p.Ala1473Thr)
c.*1884G>A (n.*1884G>A)
n.2076G>A
n.760G>A
c.*625G>A (n.*625G>A)
c.4369G>A (p.Ala1457Thr)
n.9549G>A
n.3014G>A
c.5209G>A (p.Ala1737Thr)
c.5293G>A (p.Ala1765Thr)
c.5341G>A (p.Ala1781Thr)
c.4315G>A (p.Ala1439Thr)
c.3896G>A
c.3457G>A (p.Ala1153Thr)
c.*1274G>A (n.*1274G>A)
c.4610G>A
c.5383G>A (p.Ala1795Thr)
c.5380G>A (p.Ala1794Thr)
c.5335G>A (p.Ala1779Thr)
c.4459G>A (p.Ala1487Thr)
c.4228G>A (p.Ala1410Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298552G>CCA377642020PLCE1c.4417G>C (p.Ala1473Pro)
c.*1884G>C (n.*1884G>C)
n.2076G>C
n.760G>C
c.*625G>C (n.*625G>C)
c.4369G>C (p.Ala1457Pro)
n.9549G>C
n.3014G>C
c.5209G>C (p.Ala1737Pro)
c.5293G>C (p.Ala1765Pro)
c.5341G>C (p.Ala1781Pro)
c.4315G>C (p.Ala1439Pro)
c.3896G>C
c.3457G>C (p.Ala1153Pro)
c.*1274G>C (n.*1274G>C)
c.4610G>C
c.5383G>C (p.Ala1795Pro)
c.5380G>C (p.Ala1794Pro)
c.5335G>C (p.Ala1779Pro)
c.4459G>C (p.Ala1487Pro)
c.4228G>C (p.Ala1410Pro)
10g.94298552G=CA1928998436PLCE1c.4417G= (p.Ala1473=)
c.*1884G= (n.*1884G=)
n.2076G=
n.760G=
c.*625G= (n.*625G=)
c.4369G= (p.Ala1457=)
n.9549G=
n.3014G=
c.5209G= (p.Ala1737=)
c.5293G= (p.Ala1765=)
c.5341G= (p.Ala1781=)
c.4315G= (p.Ala1439=)
c.3896G=
c.3457G= (p.Ala1153=)
c.*1274G= (n.*1274G=)
c.4610G=
c.5383G= (p.Ala1795=)
c.5380G= (p.Ala1794=)
c.5335G= (p.Ala1779=)
c.4459G= (p.Ala1487=)
c.4228G= (p.Ala1410=)
10g.94298552G>TCA377642021PLCE1c.4417G>T (p.Ala1473Ser)
c.*1884G>T (n.*1884G>T)
n.2076G>T
n.760G>T
c.*625G>T (n.*625G>T)
c.4369G>T (p.Ala1457Ser)
n.9549G>T
n.3014G>T
c.5209G>T (p.Ala1737Ser)
c.5293G>T (p.Ala1765Ser)
c.5341G>T (p.Ala1781Ser)
c.4315G>T (p.Ala1439Ser)
c.3896G>T
c.3457G>T (p.Ala1153Ser)
c.*1274G>T (n.*1274G>T)
c.4610G>T
c.5383G>T (p.Ala1795Ser)
c.5380G>T (p.Ala1794Ser)
c.5335G>T (p.Ala1779Ser)
c.4459G>T (p.Ala1487Ser)
c.4228G>T (p.Ala1410Ser)
dbSNP gnomAD v4
10g.94298553C>ACA377642022PLCE1c.4418C>A (p.Ala1473Asp)
c.*1885C>A (n.*1885C>A)
n.2077C>A
n.761C>A
c.*626C>A (n.*626C>A)
c.4370C>A (p.Ala1457Asp)
n.9550C>A
n.3015C>A
c.5210C>A (p.Ala1737Asp)
c.5294C>A (p.Ala1765Asp)
c.5342C>A (p.Ala1781Asp)
c.4316C>A (p.Ala1439Asp)
c.3897C>A
c.3458C>A (p.Ala1153Asp)
c.*1275C>A (n.*1275C>A)
c.4611C>A
c.5384C>A (p.Ala1795Asp)
c.5381C>A (p.Ala1794Asp)
c.5336C>A (p.Ala1779Asp)
c.4460C>A (p.Ala1487Asp)
c.4229C>A (p.Ala1410Asp)
10g.94298553C=CA1928998437PLCE1c.4418C= (p.Ala1473=)
c.*1885C= (n.*1885C=)
n.2077C=
n.761C=
c.*626C= (n.*626C=)
c.4370C= (p.Ala1457=)
n.9550C=
n.3015C=
c.5210C= (p.Ala1737=)
c.5294C= (p.Ala1765=)
c.5342C= (p.Ala1781=)
c.4316C= (p.Ala1439=)
c.3897C=
c.3458C= (p.Ala1153=)
c.*1275C= (n.*1275C=)
c.4611C=
c.5384C= (p.Ala1795=)
c.5381C= (p.Ala1794=)
c.5336C= (p.Ala1779=)
c.4460C= (p.Ala1487=)
c.4229C= (p.Ala1410=)
10g.94298553C>GCA377642023PLCE1c.4418C>G (p.Ala1473Gly)
c.*1885C>G (n.*1885C>G)
n.2077C>G
n.761C>G
c.*626C>G (n.*626C>G)
c.4370C>G (p.Ala1457Gly)
n.9550C>G
n.3015C>G
c.5210C>G (p.Ala1737Gly)
c.5294C>G (p.Ala1765Gly)
c.5342C>G (p.Ala1781Gly)
c.4316C>G (p.Ala1439Gly)
c.3897C>G
c.3458C>G (p.Ala1153Gly)
c.*1275C>G (n.*1275C>G)
c.4611C>G
c.5384C>G (p.Ala1795Gly)
c.5381C>G (p.Ala1794Gly)
c.5336C>G (p.Ala1779Gly)
c.4460C>G (p.Ala1487Gly)
c.4229C>G (p.Ala1410Gly)
10g.94298553C>TCA377642024PLCE1c.4418C>T (p.Ala1473Val)
c.*1885C>T (n.*1885C>T)
n.2077C>T
n.761C>T
c.*626C>T (n.*626C>T)
c.4370C>T (p.Ala1457Val)
n.9550C>T
n.3015C>T
c.5210C>T (p.Ala1737Val)
c.5294C>T (p.Ala1765Val)
c.5342C>T (p.Ala1781Val)
c.4316C>T (p.Ala1439Val)
c.3897C>T
c.3458C>T (p.Ala1153Val)
c.*1275C>T (n.*1275C>T)
c.4611C>T
c.5384C>T (p.Ala1795Val)
c.5381C>T (p.Ala1794Val)
c.5336C>T (p.Ala1779Val)
c.4460C>T (p.Ala1487Val)
c.4229C>T (p.Ala1410Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.94298554C>ACA470986561PLCE1c.4419C>A (p.Ala1473=)
c.*1886C>A (n.*1886C>A)
n.2078C>A
n.762C>A
c.*627C>A (n.*627C>A)
c.4371C>A (p.Ala1457=)
n.9551C>A
n.3016C>A
c.5211C>A (p.Ala1737=)
c.5295C>A (p.Ala1765=)
c.5343C>A (p.Ala1781=)
c.4317C>A (p.Ala1439=)
c.3898C>A
c.3459C>A (p.Ala1153=)
c.*1276C>A (n.*1276C>A)
c.4612C>A
c.5385C>A (p.Ala1795=)
c.5382C>A (p.Ala1794=)
c.5337C>A (p.Ala1779=)
c.4461C>A (p.Ala1487=)
c.4230C>A (p.Ala1410=)
10g.94298554C>GCA470986562PLCE1c.4419C>G (p.Ala1473=)
c.*1886C>G (n.*1886C>G)
n.2078C>G
n.762C>G
c.*627C>G (n.*627C>G)
c.4371C>G (p.Ala1457=)
n.9551C>G
n.3016C>G
c.5211C>G (p.Ala1737=)
c.5295C>G (p.Ala1765=)
c.5343C>G (p.Ala1781=)
c.4317C>G (p.Ala1439=)
c.3898C>G
c.3459C>G (p.Ala1153=)
c.*1276C>G (n.*1276C>G)
c.4612C>G
c.5385C>G (p.Ala1795=)
c.5382C>G (p.Ala1794=)
c.5337C>G (p.Ala1779=)
c.4461C>G (p.Ala1487=)
c.4230C>G (p.Ala1410=)
10g.94298554C>TCA470986563PLCE1c.4419C>T (p.Ala1473=)
c.*1886C>T (n.*1886C>T)
n.2078C>T
n.762C>T
c.*627C>T (n.*627C>T)
c.4371C>T (p.Ala1457=)
n.9551C>T
n.3016C>T
c.5211C>T (p.Ala1737=)
c.5295C>T (p.Ala1765=)
c.5343C>T (p.Ala1781=)
c.4317C>T (p.Ala1439=)
c.3898C>T
c.3459C>T (p.Ala1153=)
c.*1276C>T (n.*1276C>T)
c.4612C>T
c.5385C>T (p.Ala1795=)
c.5382C>T (p.Ala1794=)
c.5337C>T (p.Ala1779=)
c.4461C>T (p.Ala1487=)
c.4230C>T (p.Ala1410=)
10g.94298555T>ACA377642025PLCE1c.4420T>A (p.Cys1474Ser)
c.*1887T>A (n.*1887T>A)
n.2079T>A
n.763T>A
c.*628T>A (n.*628T>A)
c.4372T>A (p.Cys1458Ser)
n.9552T>A
n.3017T>A
c.5212T>A (p.Cys1738Ser)
c.5296T>A (p.Cys1766Ser)
c.5344T>A (p.Cys1782Ser)
c.4318T>A (p.Cys1440Ser)
c.3899T>A
c.3460T>A (p.Cys1154Ser)
c.*1277T>A (n.*1277T>A)
c.4613T>A
c.5386T>A (p.Cys1796Ser)
c.5383T>A (p.Cys1795Ser)
c.5338T>A (p.Cys1780Ser)
c.4462T>A (p.Cys1488Ser)
c.4231T>A (p.Cys1411Ser)
10g.94298555T>CCA377642027PLCE1c.4420T>C (p.Cys1474Arg)
c.*1887T>C (n.*1887T>C)
n.2079T>C
n.763T>C
c.*628T>C (n.*628T>C)
c.4372T>C (p.Cys1458Arg)
n.9552T>C
n.3017T>C
c.5212T>C (p.Cys1738Arg)
c.5296T>C (p.Cys1766Arg)
c.5344T>C (p.Cys1782Arg)
c.4318T>C (p.Cys1440Arg)
c.3899T>C
c.3460T>C (p.Cys1154Arg)
c.*1277T>C (n.*1277T>C)
c.4613T>C
c.5386T>C (p.Cys1796Arg)
c.5383T>C (p.Cys1795Arg)
c.5338T>C (p.Cys1780Arg)
c.4462T>C (p.Cys1488Arg)
c.4231T>C (p.Cys1411Arg)
10g.94298555T>GCA377642026PLCE1c.4420T>G (p.Cys1474Gly)
c.*1887T>G (n.*1887T>G)
n.2079T>G
n.763T>G
c.*628T>G (n.*628T>G)
c.4372T>G (p.Cys1458Gly)
n.9552T>G
n.3017T>G
c.5212T>G (p.Cys1738Gly)
c.5296T>G (p.Cys1766Gly)
c.5344T>G (p.Cys1782Gly)
c.4318T>G (p.Cys1440Gly)
c.3899T>G
c.3460T>G (p.Cys1154Gly)
c.*1277T>G (n.*1277T>G)
c.4613T>G
c.5386T>G (p.Cys1796Gly)
c.5383T>G (p.Cys1795Gly)
c.5338T>G (p.Cys1780Gly)
c.4462T>G (p.Cys1488Gly)
c.4231T>G (p.Cys1411Gly)
10g.94298556G>ACA377642028PLCE1c.4421G>A (p.Cys1474Tyr)
c.*1888G>A (n.*1888G>A)
n.2080G>A
n.764G>A
c.*629G>A (n.*629G>A)
c.4373G>A (p.Cys1458Tyr)
n.9553G>A
n.3018G>A
c.5213G>A (p.Cys1738Tyr)
c.5297G>A (p.Cys1766Tyr)
c.5345G>A (p.Cys1782Tyr)
c.4319G>A (p.Cys1440Tyr)
c.3900G>A
c.3461G>A (p.Cys1154Tyr)
c.*1278G>A (n.*1278G>A)
c.4614G>A
c.5387G>A (p.Cys1796Tyr)
c.5384G>A (p.Cys1795Tyr)
c.5339G>A (p.Cys1780Tyr)
c.4463G>A (p.Cys1488Tyr)
c.4232G>A (p.Cys1411Tyr)
gnomAD v4
10g.94298556G>CCA377642029PLCE1c.4421G>C (p.Cys1474Ser)
c.*1888G>C (n.*1888G>C)
n.2080G>C
n.764G>C
c.*629G>C (n.*629G>C)
c.4373G>C (p.Cys1458Ser)
n.9553G>C
n.3018G>C
c.5213G>C (p.Cys1738Ser)
c.5297G>C (p.Cys1766Ser)
c.5345G>C (p.Cys1782Ser)
c.4319G>C (p.Cys1440Ser)
c.3900G>C
c.3461G>C (p.Cys1154Ser)
c.*1278G>C (n.*1278G>C)
c.4614G>C
c.5387G>C (p.Cys1796Ser)
c.5384G>C (p.Cys1795Ser)
c.5339G>C (p.Cys1780Ser)
c.4463G>C (p.Cys1488Ser)
c.4232G>C (p.Cys1411Ser)
10g.94298556G>TCA377642030PLCE1c.4421G>T (p.Cys1474Phe)
c.*1888G>T (n.*1888G>T)
n.2080G>T
n.764G>T
c.*629G>T (n.*629G>T)
c.4373G>T (p.Cys1458Phe)
n.9553G>T
n.3018G>T
c.5213G>T (p.Cys1738Phe)
c.5297G>T (p.Cys1766Phe)
c.5345G>T (p.Cys1782Phe)
c.4319G>T (p.Cys1440Phe)
c.3900G>T
c.3461G>T (p.Cys1154Phe)
c.*1278G>T (n.*1278G>T)
c.4614G>T
c.5387G>T (p.Cys1796Phe)
c.5384G>T (p.Cys1795Phe)
c.5339G>T (p.Cys1780Phe)
c.4463G>T (p.Cys1488Phe)
c.4232G>T (p.Cys1411Phe)
10g.94298556_94298557insGGCA2789048722PLCE1c.4421_4422insGG (p.Cys1474TrpfsTer5)
c.*1888_*1889insGG (n.*1888_*1889insGG)
n.2080_2081insGG
n.764_765insGG
c.*629_*630insGG (n.*629_*630insGG)
c.4373_4374insGG (p.Cys1458TrpfsTer5)
n.9553_9554insGG
n.3018_3019insGG
c.5213_5214insGG (p.Cys1738TrpfsTer5)
c.5297_5298insGG (p.Cys1766TrpfsTer5)
c.5345_5346insGG (p.Cys1782TrpfsTer5)
c.4319_4320insGG (p.Cys1440TrpfsTer5)
c.3900_3901insGG
c.3461_3462insGG (p.Cys1154TrpfsTer5)
c.*1278_*1279insGG (n.*1278_*1279insGG)
c.4614_4615insGG
c.5387_5388insGG (p.Cys1796TrpfsTer5)
c.5384_5385insGG (p.Cys1795TrpfsTer5)
c.5339_5340insGG (p.Cys1780TrpfsTer5)
c.4463_4464insGG (p.Cys1488TrpfsTer5)
c.4232_4233insGG (p.Cys1411TrpfsTer5)
10g.94298557T>ACA377642031PLCE1c.4422T>A (p.Cys1474Ter)
c.*1889T>A (n.*1889T>A)
n.2081T>A
n.765T>A
c.*630T>A (n.*630T>A)
c.4374T>A (p.Cys1458Ter)
n.9554T>A
n.3019T>A
c.5214T>A (p.Cys1738Ter)
c.5298T>A (p.Cys1766Ter)
c.5346T>A (p.Cys1782Ter)
c.4320T>A (p.Cys1440Ter)
c.3901T>A
c.3462T>A (p.Cys1154Ter)
c.*1279T>A (n.*1279T>A)
c.4615T>A
c.5388T>A (p.Cys1796Ter)
c.5385T>A (p.Cys1795Ter)
c.5340T>A (p.Cys1780Ter)
c.4464T>A (p.Cys1488Ter)
c.4233T>A (p.Cys1411Ter)
10g.94298557T>CCA470986564PLCE1c.4422T>C (p.Cys1474=)
c.*1889T>C (n.*1889T>C)
n.2081T>C
n.765T>C
c.*630T>C (n.*630T>C)
c.4374T>C (p.Cys1458=)
n.9554T>C
n.3019T>C
c.5214T>C (p.Cys1738=)
c.5298T>C (p.Cys1766=)
c.5346T>C (p.Cys1782=)
c.4320T>C (p.Cys1440=)
c.3901T>C
c.3462T>C (p.Cys1154=)
c.*1279T>C (n.*1279T>C)
c.4615T>C
c.5388T>C (p.Cys1796=)
c.5385T>C (p.Cys1795=)
c.5340T>C (p.Cys1780=)
c.4464T>C (p.Cys1488=)
c.4233T>C (p.Cys1411=)
10g.94298557T>GCA377642032PLCE1c.4422T>G (p.Cys1474Trp)
c.*1889T>G (n.*1889T>G)
n.2081T>G
n.765T>G
c.*630T>G (n.*630T>G)
c.4374T>G (p.Cys1458Trp)
n.9554T>G
n.3019T>G
c.5214T>G (p.Cys1738Trp)
c.5298T>G (p.Cys1766Trp)
c.5346T>G (p.Cys1782Trp)
c.4320T>G (p.Cys1440Trp)
c.3901T>G
c.3462T>G (p.Cys1154Trp)
c.*1279T>G (n.*1279T>G)
c.4615T>G
c.5388T>G (p.Cys1796Trp)
c.5385T>G (p.Cys1795Trp)
c.5340T>G (p.Cys1780Trp)
c.4464T>G (p.Cys1488Trp)
c.4233T>G (p.Cys1411Trp)
10g.94298558C>ACA377642033PLCE1c.4423C>A (p.Gln1475Lys)
c.*1890C>A (n.*1890C>A)
n.2082C>A
n.766C>A
c.*631C>A (n.*631C>A)
c.4375C>A (p.Gln1459Lys)
n.9555C>A
n.3020C>A
c.5215C>A (p.Gln1739Lys)
c.5299C>A (p.Gln1767Lys)
c.5347C>A (p.Gln1783Lys)
c.4321C>A (p.Gln1441Lys)
c.3902C>A
c.3463C>A (p.Gln1155Lys)
c.*1280C>A (n.*1280C>A)
c.4616C>A
c.5389C>A (p.Gln1797Lys)
c.5386C>A (p.Gln1796Lys)
c.5341C>A (p.Gln1781Lys)
c.4465C>A (p.Gln1489Lys)
c.4234C>A (p.Gln1412Lys)
10g.94298558C>GCA377642034PLCE1c.4423C>G (p.Gln1475Glu)
c.*1890C>G (n.*1890C>G)
n.2082C>G
n.766C>G
c.*631C>G (n.*631C>G)
c.4375C>G (p.Gln1459Glu)
n.9555C>G
n.3020C>G
c.5215C>G (p.Gln1739Glu)
c.5299C>G (p.Gln1767Glu)
c.5347C>G (p.Gln1783Glu)
c.4321C>G (p.Gln1441Glu)
c.3902C>G
c.3463C>G (p.Gln1155Glu)
c.*1280C>G (n.*1280C>G)
c.4616C>G
c.5389C>G (p.Gln1797Glu)
c.5386C>G (p.Gln1796Glu)
c.5341C>G (p.Gln1781Glu)
c.4465C>G (p.Gln1489Glu)
c.4234C>G (p.Gln1412Glu)
gnomAD v4
10g.94298558C>TCA377642035PLCE1c.4423C>T (p.Gln1475Ter)
c.*1890C>T (n.*1890C>T)
n.2082C>T
n.766C>T
c.*631C>T (n.*631C>T)
c.4375C>T (p.Gln1459Ter)
n.9555C>T
n.3020C>T
c.5215C>T (p.Gln1739Ter)
c.5299C>T (p.Gln1767Ter)
c.5347C>T (p.Gln1783Ter)
c.4321C>T (p.Gln1441Ter)
c.3902C>T
c.3463C>T (p.Gln1155Ter)
c.*1280C>T (n.*1280C>T)
c.4616C>T
c.5389C>T (p.Gln1797Ter)
c.5386C>T (p.Gln1796Ter)
c.5341C>T (p.Gln1781Ter)
c.4465C>T (p.Gln1489Ter)
c.4234C>T (p.Gln1412Ter)
10g.94298559A=CA1928998438PLCE1c.4424A= (p.Gln1475=)
c.*1891A= (n.*1891A=)
n.2083A=
n.767A=
c.*632A= (n.*632A=)
c.4376A= (p.Gln1459=)
n.9556A=
n.3021A=
c.5216A= (p.Gln1739=)
c.5300A= (p.Gln1767=)
c.5348A= (p.Gln1783=)
c.4322A= (p.Gln1441=)
c.3903A=
c.3464A= (p.Gln1155=)
c.*1281A= (n.*1281A=)
c.4617A=
c.5390A= (p.Gln1797=)
c.5387A= (p.Gln1796=)
c.5342A= (p.Gln1781=)
c.4466A= (p.Gln1489=)
c.4235A= (p.Gln1412=)
10g.94298559A>CCA377642036PLCE1c.4424A>C (p.Gln1475Pro)
c.*1891A>C (n.*1891A>C)
n.2083A>C
n.767A>C
c.*632A>C (n.*632A>C)
c.4376A>C (p.Gln1459Pro)
n.9556A>C
n.3021A>C
c.5216A>C (p.Gln1739Pro)
c.5300A>C (p.Gln1767Pro)
c.5348A>C (p.Gln1783Pro)
c.4322A>C (p.Gln1441Pro)
c.3903A>C
c.3464A>C (p.Gln1155Pro)
c.*1281A>C (n.*1281A>C)
c.4617A>C
c.5390A>C (p.Gln1797Pro)
c.5387A>C (p.Gln1796Pro)
c.5342A>C (p.Gln1781Pro)
c.4466A>C (p.Gln1489Pro)
c.4235A>C (p.Gln1412Pro)
10g.94298559A>GCA5613343PLCE1c.4424A>G (p.Gln1475Arg)
c.*1891A>G (n.*1891A>G)
n.2083A>G
n.767A>G
c.*632A>G (n.*632A>G)
c.4376A>G (p.Gln1459Arg)
n.9556A>G
n.3021A>G
c.5216A>G (p.Gln1739Arg)
c.5300A>G (p.Gln1767Arg)
c.5348A>G (p.Gln1783Arg)
c.4322A>G (p.Gln1441Arg)
c.3903A>G
c.3464A>G (p.Gln1155Arg)
c.*1281A>G (n.*1281A>G)
c.4617A>G
c.5390A>G (p.Gln1797Arg)
c.5387A>G (p.Gln1796Arg)
c.5342A>G (p.Gln1781Arg)
c.4466A>G (p.Gln1489Arg)
c.4235A>G (p.Gln1412Arg)
dbSNP ExAC gnomAD v2
10g.94298559A>TCA377642037PLCE1c.4424A>T (p.Gln1475Leu)
c.*1891A>T (n.*1891A>T)
n.2083A>T
n.767A>T
c.*632A>T (n.*632A>T)
c.4376A>T (p.Gln1459Leu)
n.9556A>T
n.3021A>T
c.5216A>T (p.Gln1739Leu)
c.5300A>T (p.Gln1767Leu)
c.5348A>T (p.Gln1783Leu)
c.4322A>T (p.Gln1441Leu)
c.3903A>T
c.3464A>T (p.Gln1155Leu)
c.*1281A>T (n.*1281A>T)
c.4617A>T
c.5390A>T (p.Gln1797Leu)
c.5387A>T (p.Gln1796Leu)
c.5342A>T (p.Gln1781Leu)
c.4466A>T (p.Gln1489Leu)
c.4235A>T (p.Gln1412Leu)
10g.94298560G>ACA470986567PLCE1c.4425G>A (p.Gln1475=)
c.*1892G>A (n.*1892G>A)
n.2084G>A
n.768G>A
c.*633G>A (n.*633G>A)
c.4377G>A (p.Gln1459=)
n.9557G>A
n.3022G>A
c.5217G>A (p.Gln1739=)
c.5301G>A (p.Gln1767=)
c.5349G>A (p.Gln1783=)
c.4323G>A (p.Gln1441=)
c.3904G>A
c.3465G>A (p.Gln1155=)
c.*1282G>A (n.*1282G>A)
c.4618G>A
c.5391G>A (p.Gln1797=)
c.5388G>A (p.Gln1796=)
c.5343G>A (p.Gln1781=)
c.4467G>A (p.Gln1489=)
c.4236G>A (p.Gln1412=)
dbSNP
10g.94298560G>CCA377642038PLCE1c.4425G>C (p.Gln1475His)
c.*1892G>C (n.*1892G>C)
n.2084G>C
n.768G>C
c.*633G>C (n.*633G>C)
c.4377G>C (p.Gln1459His)
n.9557G>C
n.3022G>C
c.5217G>C (p.Gln1739His)
c.5301G>C (p.Gln1767His)
c.5349G>C (p.Gln1783His)
c.4323G>C (p.Gln1441His)
c.3904G>C
c.3465G>C (p.Gln1155His)
c.*1282G>C (n.*1282G>C)
c.4618G>C
c.5391G>C (p.Gln1797His)
c.5388G>C (p.Gln1796His)
c.5343G>C (p.Gln1781His)
c.4467G>C (p.Gln1489His)
c.4236G>C (p.Gln1412His)
10g.94298560G=CA1928998439PLCE1c.4425G= (p.Gln1475=)
c.*1892G= (n.*1892G=)
n.2084G=
n.768G=
c.*633G= (n.*633G=)
c.4377G= (p.Gln1459=)
n.9557G=
n.3022G=
c.5217G= (p.Gln1739=)
c.5301G= (p.Gln1767=)
c.5349G= (p.Gln1783=)
c.4323G= (p.Gln1441=)
c.3904G=
c.3465G= (p.Gln1155=)
c.*1282G= (n.*1282G=)
c.4618G=
c.5391G= (p.Gln1797=)
c.5388G= (p.Gln1796=)
c.5343G= (p.Gln1781=)
c.4467G= (p.Gln1489=)
c.4236G= (p.Gln1412=)
10g.94298560G>TCA377642039PLCE1c.4425G>T (p.Gln1475His)
c.*1892G>T (n.*1892G>T)
n.2084G>T
n.768G>T
c.*633G>T (n.*633G>T)
c.4377G>T (p.Gln1459His)
n.9557G>T
n.3022G>T
c.5217G>T (p.Gln1739His)
c.5301G>T (p.Gln1767His)
c.5349G>T (p.Gln1783His)
c.4323G>T (p.Gln1441His)
c.3904G>T
c.3465G>T (p.Gln1155His)
c.*1282G>T (n.*1282G>T)
c.4618G>T
c.5391G>T (p.Gln1797His)
c.5388G>T (p.Gln1796His)
c.5343G>T (p.Gln1781His)
c.4467G>T (p.Gln1489His)
c.4236G>T (p.Gln1412His)
gnomAD v4
10g.94298561C>ACA377642041PLCE1c.4426C>A (p.Leu1476Met)
c.*1893C>A (n.*1893C>A)
n.2085C>A
n.769C>A
c.*634C>A (n.*634C>A)
c.4378C>A (p.Leu1460Met)
n.9558C>A
n.3023C>A
c.5218C>A (p.Leu1740Met)
c.5302C>A (p.Leu1768Met)
c.5350C>A (p.Leu1784Met)
c.4324C>A (p.Leu1442Met)
c.3905C>A
c.3466C>A (p.Leu1156Met)
c.*1283C>A (n.*1283C>A)
c.4619C>A
c.5392C>A (p.Leu1798Met)
c.5389C>A (p.Leu1797Met)
c.5344C>A (p.Leu1782Met)
c.4468C>A (p.Leu1490Met)
c.4237C>A (p.Leu1413Met)
10g.94298561C>GCA377642040PLCE1c.4426C>G (p.Leu1476Val)
c.*1893C>G (n.*1893C>G)
n.2085C>G
n.769C>G
c.*634C>G (n.*634C>G)
c.4378C>G (p.Leu1460Val)
n.9558C>G
n.3023C>G
c.5218C>G (p.Leu1740Val)
c.5302C>G (p.Leu1768Val)
c.5350C>G (p.Leu1784Val)
c.4324C>G (p.Leu1442Val)
c.3905C>G
c.3466C>G (p.Leu1156Val)
c.*1283C>G (n.*1283C>G)
c.4619C>G
c.5392C>G (p.Leu1798Val)
c.5389C>G (p.Leu1797Val)
c.5344C>G (p.Leu1782Val)
c.4468C>G (p.Leu1490Val)
c.4237C>G (p.Leu1413Val)
10g.94298561C>TCA470986569PLCE1c.4426C>T (p.Leu1476=)
c.*1893C>T (n.*1893C>T)
n.2085C>T
n.769C>T
c.*634C>T (n.*634C>T)
c.4378C>T (p.Leu1460=)
n.9558C>T
n.3023C>T
c.5218C>T (p.Leu1740=)
c.5302C>T (p.Leu1768=)
c.5350C>T (p.Leu1784=)
c.4324C>T (p.Leu1442=)
c.3905C>T
c.3466C>T (p.Leu1156=)
c.*1283C>T (n.*1283C>T)
c.4619C>T
c.5392C>T (p.Leu1798=)
c.5389C>T (p.Leu1797=)
c.5344C>T (p.Leu1782=)
c.4468C>T (p.Leu1490=)
c.4237C>T (p.Leu1413=)
10g.94298562T>ACA377642042PLCE1c.4427T>A (p.Leu1476Gln)
c.*1894T>A (n.*1894T>A)
n.2086T>A
n.770T>A
c.*635T>A (n.*635T>A)
c.4379T>A (p.Leu1460Gln)
n.9559T>A
n.3024T>A
c.5219T>A (p.Leu1740Gln)
c.5303T>A (p.Leu1768Gln)
c.5351T>A (p.Leu1784Gln)
c.4325T>A (p.Leu1442Gln)
c.3906T>A
c.3467T>A (p.Leu1156Gln)
c.*1284T>A (n.*1284T>A)
c.4620T>A
c.5393T>A (p.Leu1798Gln)
c.5390T>A (p.Leu1797Gln)
c.5345T>A (p.Leu1782Gln)
c.4469T>A (p.Leu1490Gln)
c.4238T>A (p.Leu1413Gln)
10g.94298562T>CCA377642043PLCE1c.4427T>C (p.Leu1476Pro)
c.*1894T>C (n.*1894T>C)
n.2086T>C
n.770T>C
c.*635T>C (n.*635T>C)
c.4379T>C (p.Leu1460Pro)
n.9559T>C
n.3024T>C
c.5219T>C (p.Leu1740Pro)
c.5303T>C (p.Leu1768Pro)
c.5351T>C (p.Leu1784Pro)
c.4325T>C (p.Leu1442Pro)
c.3906T>C
c.3467T>C (p.Leu1156Pro)
c.*1284T>C (n.*1284T>C)
c.4620T>C
c.5393T>C (p.Leu1798Pro)
c.5390T>C (p.Leu1797Pro)
c.5345T>C (p.Leu1782Pro)
c.4469T>C (p.Leu1490Pro)
c.4238T>C (p.Leu1413Pro)
10g.94298562T>GCA377642044PLCE1c.4427T>G (p.Leu1476Arg)
c.*1894T>G (n.*1894T>G)
n.2086T>G
n.770T>G
c.*635T>G (n.*635T>G)
c.4379T>G (p.Leu1460Arg)
n.9559T>G
n.3024T>G
c.5219T>G (p.Leu1740Arg)
c.5303T>G (p.Leu1768Arg)
c.5351T>G (p.Leu1784Arg)
c.4325T>G (p.Leu1442Arg)
c.3906T>G
c.3467T>G (p.Leu1156Arg)
c.*1284T>G (n.*1284T>G)
c.4620T>G
c.5393T>G (p.Leu1798Arg)
c.5390T>G (p.Leu1797Arg)
c.5345T>G (p.Leu1782Arg)
c.4469T>G (p.Leu1490Arg)
c.4238T>G (p.Leu1413Arg)
10g.94298563G>ACA470986570PLCE1c.4428G>A (p.Leu1476=)
c.*1895G>A (n.*1895G>A)
n.2087G>A
n.771G>A
c.*636G>A (n.*636G>A)
c.4380G>A (p.Leu1460=)
n.9560G>A
n.3025G>A
c.5220G>A (p.Leu1740=)
c.5304G>A (p.Leu1768=)
c.5352G>A (p.Leu1784=)
c.4326G>A (p.Leu1442=)
c.3907G>A
c.3468G>A (p.Leu1156=)
c.*1285G>A (n.*1285G>A)
c.4621G>A
c.5394G>A (p.Leu1798=)
c.5391G>A (p.Leu1797=)
c.5346G>A (p.Leu1782=)
c.4470G>A (p.Leu1490=)
c.4239G>A (p.Leu1413=)
10g.94298563G>CCA470986572PLCE1c.4428G>C (p.Leu1476=)
c.*1895G>C (n.*1895G>C)
n.2087G>C
n.771G>C
c.*636G>C (n.*636G>C)
c.4380G>C (p.Leu1460=)
n.9560G>C
n.3025G>C
c.5220G>C (p.Leu1740=)
c.5304G>C (p.Leu1768=)
c.5352G>C (p.Leu1784=)
c.4326G>C (p.Leu1442=)
c.3907G>C
c.3468G>C (p.Leu1156=)
c.*1285G>C (n.*1285G>C)
c.4621G>C
c.5394G>C (p.Leu1798=)
c.5391G>C (p.Leu1797=)
c.5346G>C (p.Leu1782=)
c.4470G>C (p.Leu1490=)
c.4239G>C (p.Leu1413=)
10g.94298563G>TCA470986571PLCE1c.4428G>T (p.Leu1476=)
c.*1895G>T (n.*1895G>T)
n.2087G>T
n.771G>T
c.*636G>T (n.*636G>T)
c.4380G>T (p.Leu1460=)
n.9560G>T
n.3025G>T
c.5220G>T (p.Leu1740=)
c.5304G>T (p.Leu1768=)
c.5352G>T (p.Leu1784=)
c.4326G>T (p.Leu1442=)
c.3907G>T
c.3468G>T (p.Leu1156=)
c.*1285G>T (n.*1285G>T)
c.4621G>T
c.5394G>T (p.Leu1798=)
c.5391G>T (p.Leu1797=)
c.5346G>T (p.Leu1782=)
c.4470G>T (p.Leu1490=)
c.4239G>T (p.Leu1413=)
10g.94298564C>ACA377642045PLCE1c.4429C>A (p.Leu1477Met)
c.*1896C>A (n.*1896C>A)
n.2088C>A
n.772C>A
c.*637C>A (n.*637C>A)
c.4381C>A (p.Leu1461Met)
n.9561C>A
n.3026C>A
c.5221C>A (p.Leu1741Met)
c.5305C>A (p.Leu1769Met)
c.5353C>A (p.Leu1785Met)
c.4327C>A (p.Leu1443Met)
c.3908C>A
c.3469C>A (p.Leu1157Met)
c.*1286C>A (n.*1286C>A)
c.4622C>A
c.5395C>A (p.Leu1799Met)
c.5392C>A (p.Leu1798Met)
c.5347C>A (p.Leu1783Met)
c.4471C>A (p.Leu1491Met)
c.4240C>A (p.Leu1414Met)
10g.94298564C>GCA377642046PLCE1c.4429C>G (p.Leu1477Val)
c.*1896C>G (n.*1896C>G)
n.2088C>G
n.772C>G
c.*637C>G (n.*637C>G)
c.4381C>G (p.Leu1461Val)
n.9561C>G
n.3026C>G
c.5221C>G (p.Leu1741Val)
c.5305C>G (p.Leu1769Val)
c.5353C>G (p.Leu1785Val)
c.4327C>G (p.Leu1443Val)
c.3908C>G
c.3469C>G (p.Leu1157Val)
c.*1286C>G (n.*1286C>G)
c.4622C>G
c.5395C>G (p.Leu1799Val)
c.5392C>G (p.Leu1798Val)
c.5347C>G (p.Leu1783Val)
c.4471C>G (p.Leu1491Val)
c.4240C>G (p.Leu1414Val)
10g.94298564C>TCA470986574PLCE1c.4429C>T (p.Leu1477=)
c.*1896C>T (n.*1896C>T)
n.2088C>T
n.772C>T
c.*637C>T (n.*637C>T)
c.4381C>T (p.Leu1461=)
n.9561C>T
n.3026C>T
c.5221C>T (p.Leu1741=)
c.5305C>T (p.Leu1769=)
c.5353C>T (p.Leu1785=)
c.4327C>T (p.Leu1443=)
c.3908C>T
c.3469C>T (p.Leu1157=)
c.*1286C>T (n.*1286C>T)
c.4622C>T
c.5395C>T (p.Leu1799=)
c.5392C>T (p.Leu1798=)
c.5347C>T (p.Leu1783=)
c.4471C>T (p.Leu1491=)
c.4240C>T (p.Leu1414=)
10g.94298565T>ACA377642047PLCE1c.4430T>A (p.Leu1477Gln)
c.*1897T>A (n.*1897T>A)
n.2089T>A
n.773T>A
c.*638T>A (n.*638T>A)
c.4382T>A (p.Leu1461Gln)
n.9562T>A
n.3027T>A
c.5222T>A (p.Leu1741Gln)
c.5306T>A (p.Leu1769Gln)
c.5354T>A (p.Leu1785Gln)
c.4328T>A (p.Leu1443Gln)
c.3909T>A
c.3470T>A (p.Leu1157Gln)
c.*1287T>A (n.*1287T>A)
c.4623T>A
c.5396T>A (p.Leu1799Gln)
c.5393T>A (p.Leu1798Gln)
c.5348T>A (p.Leu1783Gln)
c.4472T>A (p.Leu1491Gln)
c.4241T>A (p.Leu1414Gln)
10g.94298565T>CCA377642048PLCE1c.4430T>C (p.Leu1477Pro)
c.*1897T>C (n.*1897T>C)
n.2089T>C
n.773T>C
c.*638T>C (n.*638T>C)
c.4382T>C (p.Leu1461Pro)
n.9562T>C
n.3027T>C
c.5222T>C (p.Leu1741Pro)
c.5306T>C (p.Leu1769Pro)
c.5354T>C (p.Leu1785Pro)
c.4328T>C (p.Leu1443Pro)
c.3909T>C
c.3470T>C (p.Leu1157Pro)
c.*1287T>C (n.*1287T>C)
c.4623T>C
c.5396T>C (p.Leu1799Pro)
c.5393T>C (p.Leu1798Pro)
c.5348T>C (p.Leu1783Pro)
c.4472T>C (p.Leu1491Pro)
c.4241T>C (p.Leu1414Pro)
10g.94298565T>GCA377642049PLCE1c.4430T>G (p.Leu1477Arg)
c.*1897T>G (n.*1897T>G)
n.2089T>G
n.773T>G
c.*638T>G (n.*638T>G)
c.4382T>G (p.Leu1461Arg)
n.9562T>G
n.3027T>G
c.5222T>G (p.Leu1741Arg)
c.5306T>G (p.Leu1769Arg)
c.5354T>G (p.Leu1785Arg)
c.4328T>G (p.Leu1443Arg)
c.3909T>G
c.3470T>G (p.Leu1157Arg)
c.*1287T>G (n.*1287T>G)
c.4623T>G
c.5396T>G (p.Leu1799Arg)
c.5393T>G (p.Leu1798Arg)
c.5348T>G (p.Leu1783Arg)
c.4472T>G (p.Leu1491Arg)
c.4241T>G (p.Leu1414Arg)
10g.94298566G>ACA470986577PLCE1c.4431G>A (p.Leu1477=)
c.*1898G>A (n.*1898G>A)
n.2090G>A
n.774G>A
c.*639G>A (n.*639G>A)
c.4383G>A (p.Leu1461=)
n.9563G>A
n.3028G>A
c.5223G>A (p.Leu1741=)
c.5307G>A (p.Leu1769=)
c.5355G>A (p.Leu1785=)
c.4329G>A (p.Leu1443=)
c.3910G>A
c.3471G>A (p.Leu1157=)
c.*1288G>A (n.*1288G>A)
c.4624G>A
c.5397G>A (p.Leu1799=)
c.5394G>A (p.Leu1798=)
c.5349G>A (p.Leu1783=)
c.4473G>A (p.Leu1491=)
c.4242G>A (p.Leu1414=)
dbSNP gnomAD v3 gnomAD v4
10g.94298566G>CCA470986578PLCE1c.4431G>C (p.Leu1477=)
c.*1898G>C (n.*1898G>C)
n.2090G>C
n.774G>C
c.*639G>C (n.*639G>C)
c.4383G>C (p.Leu1461=)
n.9563G>C
n.3028G>C
c.5223G>C (p.Leu1741=)
c.5307G>C (p.Leu1769=)
c.5355G>C (p.Leu1785=)
c.4329G>C (p.Leu1443=)
c.3910G>C
c.3471G>C (p.Leu1157=)
c.*1288G>C (n.*1288G>C)
c.4624G>C
c.5397G>C (p.Leu1799=)
c.5394G>C (p.Leu1798=)
c.5349G>C (p.Leu1783=)
c.4473G>C (p.Leu1491=)
c.4242G>C (p.Leu1414=)
10g.94298566G=CA1928998440PLCE1c.4431G= (p.Leu1477=)
c.*1898G= (n.*1898G=)
n.2090G=
n.774G=
c.*639G= (n.*639G=)
c.4383G= (p.Leu1461=)
n.9563G=
n.3028G=
c.5223G= (p.Leu1741=)
c.5307G= (p.Leu1769=)
c.5355G= (p.Leu1785=)
c.4329G= (p.Leu1443=)
c.3910G=
c.3471G= (p.Leu1157=)
c.*1288G= (n.*1288G=)
c.4624G=
c.5397G= (p.Leu1799=)
c.5394G= (p.Leu1798=)
c.5349G= (p.Leu1783=)
c.4473G= (p.Leu1491=)
c.4242G= (p.Leu1414=)
10g.94298566G>TCA470986579PLCE1c.4431G>T (p.Leu1477=)
c.*1898G>T (n.*1898G>T)
n.2090G>T
n.774G>T
c.*639G>T (n.*639G>T)
c.4383G>T (p.Leu1461=)
n.9563G>T
n.3028G>T
c.5223G>T (p.Leu1741=)
c.5307G>T (p.Leu1769=)
c.5355G>T (p.Leu1785=)
c.4329G>T (p.Leu1443=)
c.3910G>T
c.3471G>T (p.Leu1157=)
c.*1288G>T (n.*1288G>T)
c.4624G>T
c.5397G>T (p.Leu1799=)
c.5394G>T (p.Leu1798=)
c.5349G>T (p.Leu1783=)
c.4473G>T (p.Leu1491=)
c.4242G>T (p.Leu1414=)
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
10g.94298581T>GCA470986592PLCE1c.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=)
10g.94298582G>ACA377642083PLCE1c.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)
10g.94298582G>CCA377642081PLCE1c.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)
10g.94298582G>TCA377642082PLCE1c.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)
10g.94298583C>ACA377642084PLCE1c.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)
10g.94298583C>GCA377642085PLCE1c.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)
10g.94298583C>TCA377642086PLCE1c.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)
10g.94298584C>ACA470986594PLCE1c.4449C>A (p.Ala1483=)
c.*1916C>A (n.*1916C>A)
n.2108C>A
n.792C>A
c.*657C>A (n.*657C>A)
c.4401C>A (p.Ala1467=)
n.9581C>A
n.3046C>A
c.5241C>A (p.Ala1747=)
c.5325C>A (p.Ala1775=)
c.5373C>A (p.Ala1791=)
c.4347C>A (p.Ala1449=)
c.3928C>A
c.3489C>A (p.Ala1163=)
c.*1306C>A (n.*1306C>A)
c.4642C>A
c.5415C>A (p.Ala1805=)
c.5412C>A (p.Ala1804=)
c.5367C>A (p.Ala1789=)
c.4491C>A (p.Ala1497=)
c.4260C>A (p.Ala1420=)
10g.94298584C>GCA470986595PLCE1c.4449C>G (p.Ala1483=)
c.*1916C>G (n.*1916C>G)
n.2108C>G
n.792C>G
c.*657C>G (n.*657C>G)
c.4401C>G (p.Ala1467=)
n.9581C>G
n.3046C>G
c.5241C>G (p.Ala1747=)
c.5325C>G (p.Ala1775=)
c.5373C>G (p.Ala1791=)
c.4347C>G (p.Ala1449=)
c.3928C>G
c.3489C>G (p.Ala1163=)
c.*1306C>G (n.*1306C>G)
c.4642C>G
c.5415C>G (p.Ala1805=)
c.5412C>G (p.Ala1804=)
c.5367C>G (p.Ala1789=)
c.4491C>G (p.Ala1497=)
c.4260C>G (p.Ala1420=)
10g.94298584C>TCA470986597PLCE1c.4449C>T (p.Ala1483=)
c.*1916C>T (n.*1916C>T)
n.2108C>T
n.792C>T
c.*657C>T (n.*657C>T)
c.4401C>T (p.Ala1467=)
n.9581C>T
n.3046C>T
c.5241C>T (p.Ala1747=)
c.5325C>T (p.Ala1775=)
c.5373C>T (p.Ala1791=)
c.4347C>T (p.Ala1449=)
c.3928C>T
c.3489C>T (p.Ala1163=)
c.*1306C>T (n.*1306C>T)
c.4642C>T
c.5415C>T (p.Ala1805=)
c.5412C>T (p.Ala1804=)
c.5367C>T (p.Ala1789=)
c.4491C>T (p.Ala1497=)
c.4260C>T (p.Ala1420=)
10g.94298585A>CCA377642087PLCE1c.4450A>C (p.Thr1484Pro)
c.*1917A>C (n.*1917A>C)
n.2109A>C
n.793A>C
c.*658A>C (n.*658A>C)
c.4402A>C (p.Thr1468Pro)
n.9582A>C
n.3047A>C
c.5242A>C (p.Thr1748Pro)
c.5326A>C (p.Thr1776Pro)
c.5374A>C (p.Thr1792Pro)
c.4348A>C (p.Thr1450Pro)
c.3929A>C
c.3490A>C (p.Thr1164Pro)
c.*1307A>C (n.*1307A>C)
c.4643A>C
c.5416A>C (p.Thr1806Pro)
c.5413A>C (p.Thr1805Pro)
c.5368A>C (p.Thr1790Pro)
c.4492A>C (p.Thr1498Pro)
c.4261A>C (p.Thr1421Pro)
10g.94298585A>GCA377642088PLCE1c.4450A>G (p.Thr1484Ala)
c.*1917A>G (n.*1917A>G)
n.2109A>G
n.793A>G
c.*658A>G (n.*658A>G)
c.4402A>G (p.Thr1468Ala)
n.9582A>G
n.3047A>G
c.5242A>G (p.Thr1748Ala)
c.5326A>G (p.Thr1776Ala)
c.5374A>G (p.Thr1792Ala)
c.4348A>G (p.Thr1450Ala)
c.3929A>G
c.3490A>G (p.Thr1164Ala)
c.*1307A>G (n.*1307A>G)
c.4643A>G
c.5416A>G (p.Thr1806Ala)
c.5413A>G (p.Thr1805Ala)
c.5368A>G (p.Thr1790Ala)
c.4492A>G (p.Thr1498Ala)
c.4261A>G (p.Thr1421Ala)
10g.94298585A>TCA377642089PLCE1c.4450A>T (p.Thr1484Ser)
c.*1917A>T (n.*1917A>T)
n.2109A>T
n.793A>T
c.*658A>T (n.*658A>T)
c.4402A>T (p.Thr1468Ser)
n.9582A>T
n.3047A>T
c.5242A>T (p.Thr1748Ser)
c.5326A>T (p.Thr1776Ser)
c.5374A>T (p.Thr1792Ser)
c.4348A>T (p.Thr1450Ser)
c.3929A>T
c.3490A>T (p.Thr1164Ser)
c.*1307A>T (n.*1307A>T)
c.4643A>T
c.5416A>T (p.Thr1806Ser)
c.5413A>T (p.Thr1805Ser)
c.5368A>T (p.Thr1790Ser)
c.4492A>T (p.Thr1498Ser)
c.4261A>T (p.Thr1421Ser)
10g.94298586C>ACA377642090PLCE1c.4451C>A (p.Thr1484Asn)
c.*1918C>A (n.*1918C>A)
n.2110C>A
n.794C>A
c.*659C>A (n.*659C>A)
c.4403C>A (p.Thr1468Asn)
n.9583C>A
n.3048C>A
c.5243C>A (p.Thr1748Asn)
c.5327C>A (p.Thr1776Asn)
c.5375C>A (p.Thr1792Asn)
c.4349C>A (p.Thr1450Asn)
c.3930C>A
c.3491C>A (p.Thr1164Asn)
c.*1308C>A (n.*1308C>A)
c.4644C>A
c.5417C>A (p.Thr1806Asn)
c.5414C>A (p.Thr1805Asn)
c.5369C>A (p.Thr1790Asn)
c.4493C>A (p.Thr1498Asn)
c.4262C>A (p.Thr1421Asn)
10g.94298586C>GCA377642091PLCE1c.4451C>G (p.Thr1484Ser)
c.*1918C>G (n.*1918C>G)
n.2110C>G
n.794C>G
c.*659C>G (n.*659C>G)
c.4403C>G (p.Thr1468Ser)
n.9583C>G
n.3048C>G
c.5243C>G (p.Thr1748Ser)
c.5327C>G (p.Thr1776Ser)
c.5375C>G (p.Thr1792Ser)
c.4349C>G (p.Thr1450Ser)
c.3930C>G
c.3491C>G (p.Thr1164Ser)
c.*1308C>G (n.*1308C>G)
c.4644C>G
c.5417C>G (p.Thr1806Ser)
c.5414C>G (p.Thr1805Ser)
c.5369C>G (p.Thr1790Ser)
c.4493C>G (p.Thr1498Ser)
c.4262C>G (p.Thr1421Ser)
10g.94298586C>TCA377642092PLCE1c.4451C>T (p.Thr1484Ile)
c.*1918C>T (n.*1918C>T)
n.2110C>T
n.794C>T
c.*659C>T (n.*659C>T)
c.4403C>T (p.Thr1468Ile)
n.9583C>T
n.3048C>T
c.5243C>T (p.Thr1748Ile)
c.5327C>T (p.Thr1776Ile)
c.5375C>T (p.Thr1792Ile)
c.4349C>T (p.Thr1450Ile)
c.3930C>T
c.3491C>T (p.Thr1164Ile)
c.*1308C>T (n.*1308C>T)
c.4644C>T
c.5417C>T (p.Thr1806Ile)
c.5414C>T (p.Thr1805Ile)
c.5369C>T (p.Thr1790Ile)
c.4493C>T (p.Thr1498Ile)
c.4262C>T (p.Thr1421Ile)
10g.94298587C>ACA470986599PLCE1c.4452C>A (p.Thr1484=)
c.*1919C>A (n.*1919C>A)
n.2111C>A
n.795C>A
c.*660C>A (n.*660C>A)
c.4404C>A (p.Thr1468=)
n.9584C>A
n.3049C>A
c.5244C>A (p.Thr1748=)
c.5328C>A (p.Thr1776=)
c.5376C>A (p.Thr1792=)
c.4350C>A (p.Thr1450=)
c.3931C>A
c.3492C>A (p.Thr1164=)
c.*1309C>A (n.*1309C>A)
c.4645C>A
c.5418C>A (p.Thr1806=)
c.5415C>A (p.Thr1805=)
c.5370C>A (p.Thr1790=)
c.4494C>A (p.Thr1498=)
c.4263C>A (p.Thr1421=)
10g.94298587C=CA1928998446PLCE1c.4452C= (p.Thr1484=)
c.*1919C= (n.*1919C=)
n.2111C=
n.795C=
c.*660C= (n.*660C=)
c.4404C= (p.Thr1468=)
n.9584C=
n.3049C=
c.5244C= (p.Thr1748=)
c.5328C= (p.Thr1776=)
c.5376C= (p.Thr1792=)
c.4350C= (p.Thr1450=)
c.3931C=
c.3492C= (p.Thr1164=)
c.*1309C= (n.*1309C=)
c.4645C=
c.5418C= (p.Thr1806=)
c.5415C= (p.Thr1805=)
c.5370C= (p.Thr1790=)
c.4494C= (p.Thr1498=)
c.4263C= (p.Thr1421=)
10g.94298587C>GCA470986600PLCE1c.4452C>G (p.Thr1484=)
c.*1919C>G (n.*1919C>G)
n.2111C>G
n.795C>G
c.*660C>G (n.*660C>G)
c.4404C>G (p.Thr1468=)
n.9584C>G
n.3049C>G
c.5244C>G (p.Thr1748=)
c.5328C>G (p.Thr1776=)
c.5376C>G (p.Thr1792=)
c.4350C>G (p.Thr1450=)
c.3931C>G
c.3492C>G (p.Thr1164=)
c.*1309C>G (n.*1309C>G)
c.4645C>G
c.5418C>G (p.Thr1806=)
c.5415C>G (p.Thr1805=)
c.5370C>G (p.Thr1790=)
c.4494C>G (p.Thr1498=)
c.4263C>G (p.Thr1421=)
10g.94298587C>TCA5613348PLCE1c.4452C>T (p.Thr1484=)
c.*1919C>T (n.*1919C>T)
n.2111C>T
n.795C>T
c.*660C>T (n.*660C>T)
c.4404C>T (p.Thr1468=)
n.9584C>T
n.3049C>T
c.5244C>T (p.Thr1748=)
c.5328C>T (p.Thr1776=)
c.5376C>T (p.Thr1792=)
c.4350C>T (p.Thr1450=)
c.3931C>T
c.3492C>T (p.Thr1164=)
c.*1309C>T (n.*1309C>T)
c.4645C>T
c.5418C>T (p.Thr1806=)
c.5415C>T (p.Thr1805=)
c.5370C>T (p.Thr1790=)
c.4494C>T (p.Thr1498=)
c.4263C>T (p.Thr1421=)
dbSNP ExAC gnomAD v2
10g.94298588C>ACA377642095PLCE1c.4453C>A (p.Arg1485Ser)
c.*1920C>A (n.*1920C>A)
n.2112C>A
n.796C>A
c.*661C>A (n.*661C>A)
c.4405C>A (p.Arg1469Ser)
n.9585C>A
n.3050C>A
c.5245C>A (p.Arg1749Ser)
c.5329C>A (p.Arg1777Ser)
c.5377C>A (p.Arg1793Ser)
c.4351C>A (p.Arg1451Ser)
c.3932C>A
c.3493C>A (p.Arg1165Ser)
c.*1310C>A (n.*1310C>A)
c.4646C>A
c.5419C>A (p.Arg1807Ser)
c.5416C>A (p.Arg1806Ser)
c.5371C>A (p.Arg1791Ser)
c.4495C>A (p.Arg1499Ser)
c.4264C>A (p.Arg1422Ser)
10g.94298588C=CA1928998447PLCE1c.4453C= (p.Arg1485=)
c.*1920C= (n.*1920C=)
n.2112C=
n.796C=
c.*661C= (n.*661C=)
c.4405C= (p.Arg1469=)
n.9585C=
n.3050C=
c.5245C= (p.Arg1749=)
c.5329C= (p.Arg1777=)
c.5377C= (p.Arg1793=)
c.4351C= (p.Arg1451=)
c.3932C=
c.3493C= (p.Arg1165=)
c.*1310C= (n.*1310C=)
c.4646C=
c.5419C= (p.Arg1807=)
c.5416C= (p.Arg1806=)
c.5371C= (p.Arg1791=)
c.4495C= (p.Arg1499=)
c.4264C= (p.Arg1422=)
10g.94298588C>GCA377642094PLCE1c.4453C>G (p.Arg1485Gly)
c.*1920C>G (n.*1920C>G)
n.2112C>G
n.796C>G
c.*661C>G (n.*661C>G)
c.4405C>G (p.Arg1469Gly)
n.9585C>G
n.3050C>G
c.5245C>G (p.Arg1749Gly)
c.5329C>G (p.Arg1777Gly)
c.5377C>G (p.Arg1793Gly)
c.4351C>G (p.Arg1451Gly)
c.3932C>G
c.3493C>G (p.Arg1165Gly)
c.*1310C>G (n.*1310C>G)
c.4646C>G
c.5419C>G (p.Arg1807Gly)
c.5416C>G (p.Arg1806Gly)
c.5371C>G (p.Arg1791Gly)
c.4495C>G (p.Arg1499Gly)
c.4264C>G (p.Arg1422Gly)
gnomAD v4
10g.94298588C>TCA377642093PLCE1c.4453C>T (p.Arg1485Cys)
c.*1920C>T (n.*1920C>T)
n.2112C>T
n.796C>T
c.*661C>T (n.*661C>T)
c.4405C>T (p.Arg1469Cys)
n.9585C>T
n.3050C>T
c.5245C>T (p.Arg1749Cys)
c.5329C>T (p.Arg1777Cys)
c.5377C>T (p.Arg1793Cys)
c.4351C>T (p.Arg1451Cys)
c.3932C>T
c.3493C>T (p.Arg1165Cys)
c.*1310C>T (n.*1310C>T)
c.4646C>T
c.5419C>T (p.Arg1807Cys)
c.5416C>T (p.Arg1806Cys)
c.5371C>T (p.Arg1791Cys)
c.4495C>T (p.Arg1499Cys)
c.4264C>T (p.Arg1422Cys)
dbSNP gnomAD v2 gnomAD v4
10g.94298589G>ACA377642096PLCE1c.4454G>A (p.Arg1485His)
c.*1921G>A (n.*1921G>A)
n.2113G>A
n.797G>A
c.*662G>A (n.*662G>A)
c.4406G>A (p.Arg1469His)
n.9586G>A
n.3051G>A
c.5246G>A (p.Arg1749His)
c.5330G>A (p.Arg1777His)
c.5378G>A (p.Arg1793His)
c.4352G>A (p.Arg1451His)
c.3933G>A
c.3494G>A (p.Arg1165His)
c.*1311G>A (n.*1311G>A)
c.4647G>A
c.5420G>A (p.Arg1807His)
c.5417G>A (p.Arg1806His)
c.5372G>A (p.Arg1791His)
c.4496G>A (p.Arg1499His)
c.4265G>A (p.Arg1422His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.94298589G>CCA377642097PLCE1c.4454G>C (p.Arg1485Pro)
c.*1921G>C (n.*1921G>C)
n.2113G>C
n.797G>C
c.*662G>C (n.*662G>C)
c.4406G>C (p.Arg1469Pro)
n.9586G>C
n.3051G>C
c.5246G>C (p.Arg1749Pro)
c.5330G>C (p.Arg1777Pro)
c.5378G>C (p.Arg1793Pro)
c.4352G>C (p.Arg1451Pro)
c.3933G>C
c.3494G>C (p.Arg1165Pro)
c.*1311G>C (n.*1311G>C)
c.4647G>C
c.5420G>C (p.Arg1807Pro)
c.5417G>C (p.Arg1806Pro)
c.5372G>C (p.Arg1791Pro)
c.4496G>C (p.Arg1499Pro)
c.4265G>C (p.Arg1422Pro)
10g.94298589G=CA1928998448PLCE1c.4454G= (p.Arg1485=)
c.*1921G= (n.*1921G=)
n.2113G=
n.797G=
c.*662G= (n.*662G=)
c.4406G= (p.Arg1469=)
n.9586G=
n.3051G=
c.5246G= (p.Arg1749=)
c.5330G= (p.Arg1777=)
c.5378G= (p.Arg1793=)
c.4352G= (p.Arg1451=)
c.3933G=
c.3494G= (p.Arg1165=)
c.*1311G= (n.*1311G=)
c.4647G=
c.5420G= (p.Arg1807=)
c.5417G= (p.Arg1806=)
c.5372G= (p.Arg1791=)
c.4496G= (p.Arg1499=)
c.4265G= (p.Arg1422=)
10g.94298589G>TCA377642098PLCE1c.4454G>T (p.Arg1485Leu)
c.*1921G>T (n.*1921G>T)
n.2113G>T
n.797G>T
c.*662G>T (n.*662G>T)
c.4406G>T (p.Arg1469Leu)
n.9586G>T
n.3051G>T
c.5246G>T (p.Arg1749Leu)
c.5330G>T (p.Arg1777Leu)
c.5378G>T (p.Arg1793Leu)
c.4352G>T (p.Arg1451Leu)
c.3933G>T
c.3494G>T (p.Arg1165Leu)
c.*1311G>T (n.*1311G>T)
c.4647G>T
c.5420G>T (p.Arg1807Leu)
c.5417G>T (p.Arg1806Leu)
c.5372G>T (p.Arg1791Leu)
c.4496G>T (p.Arg1499Leu)
c.4265G>T (p.Arg1422Leu)
10g.94298590C>ACA470986604PLCE1c.4455C>A (p.Arg1485=)
c.*1922C>A (n.*1922C>A)
n.2114C>A
n.798C>A
c.*663C>A (n.*663C>A)
c.4407C>A (p.Arg1469=)
n.9587C>A
n.3052C>A
c.5247C>A (p.Arg1749=)
c.5331C>A (p.Arg1777=)
c.5379C>A (p.Arg1793=)
c.4353C>A (p.Arg1451=)
c.3934C>A
c.3495C>A (p.Arg1165=)
c.*1312C>A (n.*1312C>A)
c.4648C>A
c.5421C>A (p.Arg1807=)
c.5418C>A (p.Arg1806=)
c.5373C>A (p.Arg1791=)
c.4497C>A (p.Arg1499=)
c.4266C>A (p.Arg1422=)
10g.94298590C>GCA470986603PLCE1c.4455C>G (p.Arg1485=)
c.*1922C>G (n.*1922C>G)
n.2114C>G
n.798C>G
c.*663C>G (n.*663C>G)
c.4407C>G (p.Arg1469=)
n.9587C>G
n.3052C>G
c.5247C>G (p.Arg1749=)
c.5331C>G (p.Arg1777=)
c.5379C>G (p.Arg1793=)
c.4353C>G (p.Arg1451=)
c.3934C>G
c.3495C>G (p.Arg1165=)
c.*1312C>G (n.*1312C>G)
c.4648C>G
c.5421C>G (p.Arg1807=)
c.5418C>G (p.Arg1806=)
c.5373C>G (p.Arg1791=)
c.4497C>G (p.Arg1499=)
c.4266C>G (p.Arg1422=)
10g.94298590C>TCA470986602PLCE1c.4455C>T (p.Arg1485=)
c.*1922C>T (n.*1922C>T)
n.2114C>T
n.798C>T
c.*663C>T (n.*663C>T)
c.4407C>T (p.Arg1469=)
n.9587C>T
n.3052C>T
c.5247C>T (p.Arg1749=)
c.5331C>T (p.Arg1777=)
c.5379C>T (p.Arg1793=)
c.4353C>T (p.Arg1451=)
c.3934C>T
c.3495C>T (p.Arg1165=)
c.*1312C>T (n.*1312C>T)
c.4648C>T
c.5421C>T (p.Arg1807=)
c.5418C>T (p.Arg1806=)
c.5373C>T (p.Arg1791=)
c.4497C>T (p.Arg1499=)
c.4266C>T (p.Arg1422=)
10g.94298591A>CCA377642099PLCE1c.4456A>C (p.Ile1486Leu)
c.*1923A>C (n.*1923A>C)
n.2115A>C
n.799A>C
c.*664A>C (n.*664A>C)
c.4408A>C (p.Ile1470Leu)
n.9588A>C
n.3053A>C
c.5248A>C (p.Ile1750Leu)
c.5332A>C (p.Ile1778Leu)
c.5380A>C (p.Ile1794Leu)
c.4354A>C (p.Ile1452Leu)
c.3935A>C
c.3496A>C (p.Ile1166Leu)
c.*1313A>C (n.*1313A>C)
c.4649A>C
c.5422A>C (p.Ile1808Leu)
c.5419A>C (p.Ile1807Leu)
c.5374A>C (p.Ile1792Leu)
c.4498A>C (p.Ile1500Leu)
c.4267A>C (p.Ile1423Leu)
10g.94298591A>GCA377642100PLCE1c.4456A>G (p.Ile1486Val)
c.*1923A>G (n.*1923A>G)
n.2115A>G
n.799A>G
c.*664A>G (n.*664A>G)
c.4408A>G (p.Ile1470Val)
n.9588A>G
n.3053A>G
c.5248A>G (p.Ile1750Val)
c.5332A>G (p.Ile1778Val)
c.5380A>G (p.Ile1794Val)
c.4354A>G (p.Ile1452Val)
c.3935A>G
c.3496A>G (p.Ile1166Val)
c.*1313A>G (n.*1313A>G)
c.4649A>G
c.5422A>G (p.Ile1808Val)
c.5419A>G (p.Ile1807Val)
c.5374A>G (p.Ile1792Val)
c.4498A>G (p.Ile1500Val)
c.4267A>G (p.Ile1423Val)
gnomAD v4
10g.94298591A>TCA377642101PLCE1c.4456A>T (p.Ile1486Phe)
c.*1923A>T (n.*1923A>T)
n.2115A>T
n.799A>T
c.*664A>T (n.*664A>T)
c.4408A>T (p.Ile1470Phe)
n.9588A>T
n.3053A>T
c.5248A>T (p.Ile1750Phe)
c.5332A>T (p.Ile1778Phe)
c.5380A>T (p.Ile1794Phe)
c.4354A>T (p.Ile1452Phe)
c.3935A>T
c.3496A>T (p.Ile1166Phe)
c.*1313A>T (n.*1313A>T)
c.4649A>T
c.5422A>T (p.Ile1808Phe)
c.5419A>T (p.Ile1807Phe)
c.5374A>T (p.Ile1792Phe)
c.4498A>T (p.Ile1500Phe)
c.4267A>T (p.Ile1423Phe)
10g.94298592T>ACA377642102PLCE1c.4457T>A (p.Ile1486Asn)
c.*1924T>A (n.*1924T>A)
n.2116T>A
n.800T>A
c.*665T>A (n.*665T>A)
c.4409T>A (p.Ile1470Asn)
n.9589T>A
n.3054T>A
c.5249T>A (p.Ile1750Asn)
c.5333T>A (p.Ile1778Asn)
c.5381T>A (p.Ile1794Asn)
c.4355T>A (p.Ile1452Asn)
c.3936T>A
c.3497T>A (p.Ile1166Asn)
c.*1314T>A (n.*1314T>A)
c.4650T>A
c.5423T>A (p.Ile1808Asn)
c.5420T>A (p.Ile1807Asn)
c.5375T>A (p.Ile1792Asn)
c.4499T>A (p.Ile1500Asn)
c.4268T>A (p.Ile1423Asn)
10g.94298592T>CCA377642103PLCE1c.4457T>C (p.Ile1486Thr)
c.*1924T>C (n.*1924T>C)
n.2116T>C
n.800T>C
c.*665T>C (n.*665T>C)
c.4409T>C (p.Ile1470Thr)
n.9589T>C
n.3054T>C
c.5249T>C (p.Ile1750Thr)
c.5333T>C (p.Ile1778Thr)
c.5381T>C (p.Ile1794Thr)
c.4355T>C (p.Ile1452Thr)
c.3936T>C
c.3497T>C (p.Ile1166Thr)
c.*1314T>C (n.*1314T>C)
c.4650T>C
c.5423T>C (p.Ile1808Thr)
c.5420T>C (p.Ile1807Thr)
c.5375T>C (p.Ile1792Thr)
c.4499T>C (p.Ile1500Thr)
c.4268T>C (p.Ile1423Thr)
10g.94298592T>GCA377642104PLCE1c.4457T>G (p.Ile1486Ser)
c.*1924T>G (n.*1924T>G)
n.2116T>G
n.800T>G
c.*665T>G (n.*665T>G)
c.4409T>G (p.Ile1470Ser)
n.9589T>G
n.3054T>G
c.5249T>G (p.Ile1750Ser)
c.5333T>G (p.Ile1778Ser)
c.5381T>G (p.Ile1794Ser)
c.4355T>G (p.Ile1452Ser)
c.3936T>G
c.3497T>G (p.Ile1166Ser)
c.*1314T>G (n.*1314T>G)
c.4650T>G
c.5423T>G (p.Ile1808Ser)
c.5420T>G (p.Ile1807Ser)
c.5375T>G (p.Ile1792Ser)
c.4499T>G (p.Ile1500Ser)
c.4268T>G (p.Ile1423Ser)
10g.94298593C>ACA211599807PLCE1c.4458C>A (p.Ile1486=)
c.*1925C>A (n.*1925C>A)
n.2117C>A
n.801C>A
c.*666C>A (n.*666C>A)
c.4410C>A (p.Ile1470=)
n.9590C>A
n.3055C>A
c.5250C>A (p.Ile1750=)
c.5334C>A (p.Ile1778=)
c.5382C>A (p.Ile1794=)
c.4356C>A (p.Ile1452=)
c.3937C>A
c.3498C>A (p.Ile1166=)
c.*1315C>A (n.*1315C>A)
c.4651C>A
c.5424C>A (p.Ile1808=)
c.5421C>A (p.Ile1807=)
c.5376C>A (p.Ile1792=)
c.4500C>A (p.Ile1500=)
c.4269C>A (p.Ile1423=)
dbSNP gnomAD v2 gnomAD v4
10g.94298593C=CA1928998449PLCE1c.4458C= (p.Ile1486=)
c.*1925C= (n.*1925C=)
n.2117C=
n.801C=
c.*666C= (n.*666C=)
c.4410C= (p.Ile1470=)
n.9590C=
n.3055C=
c.5250C= (p.Ile1750=)
c.5334C= (p.Ile1778=)
c.5382C= (p.Ile1794=)
c.4356C= (p.Ile1452=)
c.3937C=
c.3498C= (p.Ile1166=)
c.*1315C= (n.*1315C=)
c.4651C=
c.5424C= (p.Ile1808=)
c.5421C= (p.Ile1807=)
c.5376C= (p.Ile1792=)
c.4500C= (p.Ile1500=)
c.4269C= (p.Ile1423=)
10g.94298593C>GCA377642105PLCE1c.4458C>G (p.Ile1486Met)
c.*1925C>G (n.*1925C>G)
n.2117C>G
n.801C>G
c.*666C>G (n.*666C>G)
c.4410C>G (p.Ile1470Met)
n.9590C>G
n.3055C>G
c.5250C>G (p.Ile1750Met)
c.5334C>G (p.Ile1778Met)
c.5382C>G (p.Ile1794Met)
c.4356C>G (p.Ile1452Met)
c.3937C>G
c.3498C>G (p.Ile1166Met)
c.*1315C>G (n.*1315C>G)
c.4651C>G
c.5424C>G (p.Ile1808Met)
c.5421C>G (p.Ile1807Met)
c.5376C>G (p.Ile1792Met)
c.4500C>G (p.Ile1500Met)
c.4269C>G (p.Ile1423Met)
10g.94298593C>TCA5613349PLCE1c.4458C>T (p.Ile1486=)
c.*1925C>T (n.*1925C>T)
n.2117C>T
n.801C>T
c.*666C>T (n.*666C>T)
c.4410C>T (p.Ile1470=)
n.9590C>T
n.3055C>T
c.5250C>T (p.Ile1750=)
c.5334C>T (p.Ile1778=)
c.5382C>T (p.Ile1794=)
c.4356C>T (p.Ile1452=)
c.3937C>T
c.3498C>T (p.Ile1166=)
c.*1315C>T (n.*1315C>T)
c.4651C>T
c.5424C>T (p.Ile1808=)
c.5421C>T (p.Ile1807=)
c.5376C>T (p.Ile1792=)
c.4500C>T (p.Ile1500=)
c.4269C>T (p.Ile1423=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298594G>ACA377642108PLCE1c.4459G>A (p.Asp1487Asn)
c.*1926G>A (n.*1926G>A)
n.2118G>A
n.802G>A
c.*667G>A (n.*667G>A)
c.4411G>A (p.Asp1471Asn)
n.9591G>A
n.3056G>A
c.5251G>A (p.Asp1751Asn)
c.5335G>A (p.Asp1779Asn)
c.5383G>A (p.Asp1795Asn)
c.4357G>A (p.Asp1453Asn)
c.3938G>A
c.3499G>A (p.Asp1167Asn)
c.*1316G>A (n.*1316G>A)
c.4652G>A
c.5425G>A (p.Asp1809Asn)
c.5422G>A (p.Asp1808Asn)
c.5377G>A (p.Asp1793Asn)
c.4501G>A (p.Asp1501Asn)
c.4270G>A (p.Asp1424Asn)
dbSNP
10g.94298594G>CCA377642106PLCE1c.4459G>C (p.Asp1487His)
c.*1926G>C (n.*1926G>C)
n.2118G>C
n.802G>C
c.*667G>C (n.*667G>C)
c.4411G>C (p.Asp1471His)
n.9591G>C
n.3056G>C
c.5251G>C (p.Asp1751His)
c.5335G>C (p.Asp1779His)
c.5383G>C (p.Asp1795His)
c.4357G>C (p.Asp1453His)
c.3938G>C
c.3499G>C (p.Asp1167His)
c.*1316G>C (n.*1316G>C)
c.4652G>C
c.5425G>C (p.Asp1809His)
c.5422G>C (p.Asp1808His)
c.5377G>C (p.Asp1793His)
c.4501G>C (p.Asp1501His)
c.4270G>C (p.Asp1424His)
ClinVar
10g.94298594G=CA1928998450PLCE1c.4459G= (p.Asp1487=)
c.*1926G= (n.*1926G=)
n.2118G=
n.802G=
c.*667G= (n.*667G=)
c.4411G= (p.Asp1471=)
n.9591G=
n.3056G=
c.5251G= (p.Asp1751=)
c.5335G= (p.Asp1779=)
c.5383G= (p.Asp1795=)
c.4357G= (p.Asp1453=)
c.3938G=
c.3499G= (p.Asp1167=)
c.*1316G= (n.*1316G=)
c.4652G=
c.5425G= (p.Asp1809=)
c.5422G= (p.Asp1808=)
c.5377G= (p.Asp1793=)
c.4501G= (p.Asp1501=)
c.4270G= (p.Asp1424=)
10g.94298594G>TCA377642107PLCE1c.4459G>T (p.Asp1487Tyr)
c.*1926G>T (n.*1926G>T)
n.2118G>T
n.802G>T
c.*667G>T (n.*667G>T)
c.4411G>T (p.Asp1471Tyr)
n.9591G>T
n.3056G>T
c.5251G>T (p.Asp1751Tyr)
c.5335G>T (p.Asp1779Tyr)
c.5383G>T (p.Asp1795Tyr)
c.4357G>T (p.Asp1453Tyr)
c.3938G>T
c.3499G>T (p.Asp1167Tyr)
c.*1316G>T (n.*1316G>T)
c.4652G>T
c.5425G>T (p.Asp1809Tyr)
c.5422G>T (p.Asp1808Tyr)
c.5377G>T (p.Asp1793Tyr)
c.4501G>T (p.Asp1501Tyr)
c.4270G>T (p.Asp1424Tyr)
10g.94298595A>CCA377642109PLCE1c.4460A>C (p.Asp1487Ala)
c.*1927A>C (n.*1927A>C)
n.2119A>C
n.803A>C
c.*668A>C (n.*668A>C)
c.4412A>C (p.Asp1471Ala)
n.9592A>C
n.3057A>C
c.5252A>C (p.Asp1751Ala)
c.5336A>C (p.Asp1779Ala)
c.5384A>C (p.Asp1795Ala)
c.4358A>C (p.Asp1453Ala)
c.3939A>C
c.3500A>C (p.Asp1167Ala)
c.*1317A>C (n.*1317A>C)
c.4653A>C
c.5426A>C (p.Asp1809Ala)
c.5423A>C (p.Asp1808Ala)
c.5378A>C (p.Asp1793Ala)
c.4502A>C (p.Asp1501Ala)
c.4271A>C (p.Asp1424Ala)
10g.94298595A>GCA377642110PLCE1c.4460A>G (p.Asp1487Gly)
c.*1927A>G (n.*1927A>G)
n.2119A>G
n.803A>G
c.*668A>G (n.*668A>G)
c.4412A>G (p.Asp1471Gly)
n.9592A>G
n.3057A>G
c.5252A>G (p.Asp1751Gly)
c.5336A>G (p.Asp1779Gly)
c.5384A>G (p.Asp1795Gly)
c.4358A>G (p.Asp1453Gly)
c.3939A>G
c.3500A>G (p.Asp1167Gly)
c.*1317A>G (n.*1317A>G)
c.4653A>G
c.5426A>G (p.Asp1809Gly)
c.5423A>G (p.Asp1808Gly)
c.5378A>G (p.Asp1793Gly)
c.4502A>G (p.Asp1501Gly)
c.4271A>G (p.Asp1424Gly)
10g.94298595A>TCA377642111PLCE1c.4460A>T (p.Asp1487Val)
c.*1927A>T (n.*1927A>T)
n.2119A>T
n.803A>T
c.*668A>T (n.*668A>T)
c.4412A>T (p.Asp1471Val)
n.9592A>T
n.3057A>T
c.5252A>T (p.Asp1751Val)
c.5336A>T (p.Asp1779Val)
c.5384A>T (p.Asp1795Val)
c.4358A>T (p.Asp1453Val)
c.3939A>T
c.3500A>T (p.Asp1167Val)
c.*1317A>T (n.*1317A>T)
c.4653A>T
c.5426A>T (p.Asp1809Val)
c.5423A>T (p.Asp1808Val)
c.5378A>T (p.Asp1793Val)
c.4502A>T (p.Asp1501Val)
c.4271A>T (p.Asp1424Val)
10g.94298596C>ACA377642112PLCE1c.4461C>A (p.Asp1487Glu)
c.*1928C>A (n.*1928C>A)
n.2120C>A
n.804C>A
c.*669C>A (n.*669C>A)
c.4413C>A (p.Asp1471Glu)
n.9593C>A
n.3058C>A
c.5253C>A (p.Asp1751Glu)
c.5337C>A (p.Asp1779Glu)
c.5385C>A (p.Asp1795Glu)
c.4359C>A (p.Asp1453Glu)
c.3940C>A
c.3501C>A (p.Asp1167Glu)
c.*1318C>A (n.*1318C>A)
c.4654C>A
c.5427C>A (p.Asp1809Glu)
c.5424C>A (p.Asp1808Glu)
c.5379C>A (p.Asp1793Glu)
c.4503C>A (p.Asp1501Glu)
c.4272C>A (p.Asp1424Glu)
dbSNP
10g.94298596C=CA1928998451PLCE1c.4461C= (p.Asp1487=)
c.*1928C= (n.*1928C=)
n.2120C=
n.804C=
c.*669C= (n.*669C=)
c.4413C= (p.Asp1471=)
n.9593C=
n.3058C=
c.5253C= (p.Asp1751=)
c.5337C= (p.Asp1779=)
c.5385C= (p.Asp1795=)
c.4359C= (p.Asp1453=)
c.3940C=
c.3501C= (p.Asp1167=)
c.*1318C= (n.*1318C=)
c.4654C=
c.5427C= (p.Asp1809=)
c.5424C= (p.Asp1808=)
c.5379C= (p.Asp1793=)
c.4503C= (p.Asp1501=)
c.4272C= (p.Asp1424=)
10g.94298596C>GCA377642113PLCE1c.4461C>G (p.Asp1487Glu)
c.*1928C>G (n.*1928C>G)
n.2120C>G
n.804C>G
c.*669C>G (n.*669C>G)
c.4413C>G (p.Asp1471Glu)
n.9593C>G
n.3058C>G
c.5253C>G (p.Asp1751Glu)
c.5337C>G (p.Asp1779Glu)
c.5385C>G (p.Asp1795Glu)
c.4359C>G (p.Asp1453Glu)
c.3940C>G
c.3501C>G (p.Asp1167Glu)
c.*1318C>G (n.*1318C>G)
c.4654C>G
c.5427C>G (p.Asp1809Glu)
c.5424C>G (p.Asp1808Glu)
c.5379C>G (p.Asp1793Glu)
c.4503C>G (p.Asp1501Glu)
c.4272C>G (p.Asp1424Glu)
gnomAD v4
10g.94298596C>TCA470986608PLCE1c.4461C>T (p.Asp1487=)
c.*1928C>T (n.*1928C>T)
n.2120C>T
n.804C>T
c.*669C>T (n.*669C>T)
c.4413C>T (p.Asp1471=)
n.9593C>T
n.3058C>T
c.5253C>T (p.Asp1751=)
c.5337C>T (p.Asp1779=)
c.5385C>T (p.Asp1795=)
c.4359C>T (p.Asp1453=)
c.3940C>T
c.3501C>T (p.Asp1167=)
c.*1318C>T (n.*1318C>T)
c.4654C>T
c.5427C>T (p.Asp1809=)
c.5424C>T (p.Asp1808=)
c.5379C>T (p.Asp1793=)
c.4503C>T (p.Asp1501=)
c.4272C>T (p.Asp1424=)
10g.94298597T>ACA377642114PLCE1c.4462T>A (p.Ser1488Thr)
c.*1929T>A (n.*1929T>A)
n.2121T>A
n.805T>A
c.*670T>A (n.*670T>A)
c.4414T>A (p.Ser1472Thr)
n.9594T>A
n.3059T>A
c.5254T>A (p.Ser1752Thr)
c.5338T>A (p.Ser1780Thr)
c.5386T>A (p.Ser1796Thr)
c.4360T>A (p.Ser1454Thr)
c.3941T>A
c.3502T>A (p.Ser1168Thr)
c.*1319T>A (n.*1319T>A)
c.4655T>A
c.5428T>A (p.Ser1810Thr)
c.5425T>A (p.Ser1809Thr)
c.5380T>A (p.Ser1794Thr)
c.4504T>A (p.Ser1502Thr)
c.4273T>A (p.Ser1425Thr)
10g.94298597T>CCA377642115PLCE1c.4462T>C (p.Ser1488Pro)
c.*1929T>C (n.*1929T>C)
n.2121T>C
n.805T>C
c.*670T>C (n.*670T>C)
c.4414T>C (p.Ser1472Pro)
n.9594T>C
n.3059T>C
c.5254T>C (p.Ser1752Pro)
c.5338T>C (p.Ser1780Pro)
c.5386T>C (p.Ser1796Pro)
c.4360T>C (p.Ser1454Pro)
c.3941T>C
c.3502T>C (p.Ser1168Pro)
c.*1319T>C (n.*1319T>C)
c.4655T>C
c.5428T>C (p.Ser1810Pro)
c.5425T>C (p.Ser1809Pro)
c.5380T>C (p.Ser1794Pro)
c.4504T>C (p.Ser1502Pro)
c.4273T>C (p.Ser1425Pro)
10g.94298597T>GCA377642116PLCE1c.4462T>G (p.Ser1488Ala)
c.*1929T>G (n.*1929T>G)
n.2121T>G
n.805T>G
c.*670T>G (n.*670T>G)
c.4414T>G (p.Ser1472Ala)
n.9594T>G
n.3059T>G
c.5254T>G (p.Ser1752Ala)
c.5338T>G (p.Ser1780Ala)
c.5386T>G (p.Ser1796Ala)
c.4360T>G (p.Ser1454Ala)
c.3941T>G
c.3502T>G (p.Ser1168Ala)
c.*1319T>G (n.*1319T>G)
c.4655T>G
c.5428T>G (p.Ser1810Ala)
c.5425T>G (p.Ser1809Ala)
c.5380T>G (p.Ser1794Ala)
c.4504T>G (p.Ser1502Ala)
c.4273T>G (p.Ser1425Ala)
10g.94298598C>ACA377642117PLCE1c.4463C>A (p.Ser1488Tyr)
c.*1930C>A (n.*1930C>A)
n.2122C>A
n.806C>A
c.*671C>A (n.*671C>A)
c.4415C>A (p.Ser1472Tyr)
n.9595C>A
n.3060C>A
c.5255C>A (p.Ser1752Tyr)
c.5339C>A (p.Ser1780Tyr)
c.5387C>A (p.Ser1796Tyr)
c.4361C>A (p.Ser1454Tyr)
c.3942C>A
c.3503C>A (p.Ser1168Tyr)
c.*1320C>A (n.*1320C>A)
c.4656C>A
c.5429C>A (p.Ser1810Tyr)
c.5426C>A (p.Ser1809Tyr)
c.5381C>A (p.Ser1794Tyr)
c.4505C>A (p.Ser1502Tyr)
c.4274C>A (p.Ser1425Tyr)
10g.94298598C>GCA377642118PLCE1c.4463C>G (p.Ser1488Cys)
c.*1930C>G (n.*1930C>G)
n.2122C>G
n.806C>G
c.*671C>G (n.*671C>G)
c.4415C>G (p.Ser1472Cys)
n.9595C>G
n.3060C>G
c.5255C>G (p.Ser1752Cys)
c.5339C>G (p.Ser1780Cys)
c.5387C>G (p.Ser1796Cys)
c.4361C>G (p.Ser1454Cys)
c.3942C>G
c.3503C>G (p.Ser1168Cys)
c.*1320C>G (n.*1320C>G)
c.4656C>G
c.5429C>G (p.Ser1810Cys)
c.5426C>G (p.Ser1809Cys)
c.5381C>G (p.Ser1794Cys)
c.4505C>G (p.Ser1502Cys)
c.4274C>G (p.Ser1425Cys)
10g.94298598C>TCA377642119PLCE1c.4463C>T (p.Ser1488Phe)
c.*1930C>T (n.*1930C>T)
n.2122C>T
n.806C>T
c.*671C>T (n.*671C>T)
c.4415C>T (p.Ser1472Phe)
n.9595C>T
n.3060C>T
c.5255C>T (p.Ser1752Phe)
c.5339C>T (p.Ser1780Phe)
c.5387C>T (p.Ser1796Phe)
c.4361C>T (p.Ser1454Phe)
c.3942C>T
c.3503C>T (p.Ser1168Phe)
c.*1320C>T (n.*1320C>T)
c.4656C>T
c.5429C>T (p.Ser1810Phe)
c.5426C>T (p.Ser1809Phe)
c.5381C>T (p.Ser1794Phe)
c.4505C>T (p.Ser1502Phe)
c.4274C>T (p.Ser1425Phe)
10g.94298599T>ACA470986609PLCE1c.4464T>A (p.Ser1488=)
c.*1931T>A (n.*1931T>A)
n.2123T>A
n.807T>A
c.*672T>A (n.*672T>A)
c.4416T>A (p.Ser1472=)
n.9596T>A
n.3061T>A
c.5256T>A (p.Ser1752=)
c.5340T>A (p.Ser1780=)
c.5388T>A (p.Ser1796=)
c.4362T>A (p.Ser1454=)
c.3943T>A
c.3504T>A (p.Ser1168=)
c.*1321T>A (n.*1321T>A)
c.4657T>A
c.5430T>A (p.Ser1810=)
c.5427T>A (p.Ser1809=)
c.5382T>A (p.Ser1794=)
c.4506T>A (p.Ser1502=)
c.4275T>A (p.Ser1425=)
10g.94298599T>CCA470986611PLCE1c.4464T>C (p.Ser1488=)
c.*1931T>C (n.*1931T>C)
n.2123T>C
n.807T>C
c.*672T>C (n.*672T>C)
c.4416T>C (p.Ser1472=)
n.9596T>C
n.3061T>C
c.5256T>C (p.Ser1752=)
c.5340T>C (p.Ser1780=)
c.5388T>C (p.Ser1796=)
c.4362T>C (p.Ser1454=)
c.3943T>C
c.3504T>C (p.Ser1168=)
c.*1321T>C (n.*1321T>C)
c.4657T>C
c.5430T>C (p.Ser1810=)
c.5427T>C (p.Ser1809=)
c.5382T>C (p.Ser1794=)
c.4506T>C (p.Ser1502=)
c.4275T>C (p.Ser1425=)
10g.94298599T>GCA470986612PLCE1c.4464T>G (p.Ser1488=)
c.*1931T>G (n.*1931T>G)
n.2123T>G
n.807T>G
c.*672T>G (n.*672T>G)
c.4416T>G (p.Ser1472=)
n.9596T>G
n.3061T>G
c.5256T>G (p.Ser1752=)
c.5340T>G (p.Ser1780=)
c.5388T>G (p.Ser1796=)
c.4362T>G (p.Ser1454=)
c.3943T>G
c.3504T>G (p.Ser1168=)
c.*1321T>G (n.*1321T>G)
c.4657T>G
c.5430T>G (p.Ser1810=)
c.5427T>G (p.Ser1809=)
c.5382T>G (p.Ser1794=)
c.4506T>G (p.Ser1502=)
c.4275T>G (p.Ser1425=)
10g.94298600T>ACA377642122PLCE1c.4465T>A (p.Ser1489Thr)
c.*1932T>A (n.*1932T>A)
n.2124T>A
n.808T>A
c.*673T>A (n.*673T>A)
c.4417T>A (p.Ser1473Thr)
n.9597T>A
n.3062T>A
c.5257T>A (p.Ser1753Thr)
c.5341T>A (p.Ser1781Thr)
c.5389T>A (p.Ser1797Thr)
c.4363T>A (p.Ser1455Thr)
c.3944T>A
c.3505T>A (p.Ser1169Thr)
c.*1322T>A (n.*1322T>A)
c.4658T>A
c.5431T>A (p.Ser1811Thr)
c.5428T>A (p.Ser1810Thr)
c.5383T>A (p.Ser1795Thr)
c.4507T>A (p.Ser1503Thr)
c.4276T>A (p.Ser1426Thr)
10g.94298600T>CCA377642121PLCE1c.4465T>C (p.Ser1489Pro)
c.*1932T>C (n.*1932T>C)
n.2124T>C
n.808T>C
c.*673T>C (n.*673T>C)
c.4417T>C (p.Ser1473Pro)
n.9597T>C
n.3062T>C
c.5257T>C (p.Ser1753Pro)
c.5341T>C (p.Ser1781Pro)
c.5389T>C (p.Ser1797Pro)
c.4363T>C (p.Ser1455Pro)
c.3944T>C
c.3505T>C (p.Ser1169Pro)
c.*1322T>C (n.*1322T>C)
c.4658T>C
c.5431T>C (p.Ser1811Pro)
c.5428T>C (p.Ser1810Pro)
c.5383T>C (p.Ser1795Pro)
c.4507T>C (p.Ser1503Pro)
c.4276T>C (p.Ser1426Pro)
10g.94298600T>GCA377642120PLCE1c.4465T>G (p.Ser1489Ala)
c.*1932T>G (n.*1932T>G)
n.2124T>G
n.808T>G
c.*673T>G (n.*673T>G)
c.4417T>G (p.Ser1473Ala)
n.9597T>G
n.3062T>G
c.5257T>G (p.Ser1753Ala)
c.5341T>G (p.Ser1781Ala)
c.5389T>G (p.Ser1797Ala)
c.4363T>G (p.Ser1455Ala)
c.3944T>G
c.3505T>G (p.Ser1169Ala)
c.*1322T>G (n.*1322T>G)
c.4658T>G
c.5431T>G (p.Ser1811Ala)
c.5428T>G (p.Ser1810Ala)
c.5383T>G (p.Ser1795Ala)
c.4507T>G (p.Ser1503Ala)
c.4276T>G (p.Ser1426Ala)
dbSNP
10g.94298600T=CA1928998452PLCE1c.4465T= (p.Ser1489=)
c.*1932T= (n.*1932T=)
n.2124T=
n.808T=
c.*673T= (n.*673T=)
c.4417T= (p.Ser1473=)
n.9597T=
n.3062T=
c.5257T= (p.Ser1753=)
c.5341T= (p.Ser1781=)
c.5389T= (p.Ser1797=)
c.4363T= (p.Ser1455=)
c.3944T=
c.3505T= (p.Ser1169=)
c.*1322T= (n.*1322T=)
c.4658T=
c.5431T= (p.Ser1811=)
c.5428T= (p.Ser1810=)
c.5383T= (p.Ser1795=)
c.4507T= (p.Ser1503=)
c.4276T= (p.Ser1426=)
10g.94298601C>ACA377642123PLCE1c.4466C>A (p.Ser1489Tyr)
c.*1933C>A (n.*1933C>A)
n.2125C>A
n.809C>A
c.*674C>A (n.*674C>A)
c.4418C>A (p.Ser1473Tyr)
n.9598C>A
n.3063C>A
c.5258C>A (p.Ser1753Tyr)
c.5342C>A (p.Ser1781Tyr)
c.5390C>A (p.Ser1797Tyr)
c.4364C>A (p.Ser1455Tyr)
c.3945C>A
c.3506C>A (p.Ser1169Tyr)
c.*1323C>A (n.*1323C>A)
c.4659C>A
c.5432C>A (p.Ser1811Tyr)
c.5429C>A (p.Ser1810Tyr)
c.5384C>A (p.Ser1795Tyr)
c.4508C>A (p.Ser1503Tyr)
c.4277C>A (p.Ser1426Tyr)
10g.94298601C=CA1928998453PLCE1c.4466C= (p.Ser1489=)
c.*1933C= (n.*1933C=)
n.2125C=
n.809C=
c.*674C= (n.*674C=)
c.4418C= (p.Ser1473=)
n.9598C=
n.3063C=
c.5258C= (p.Ser1753=)
c.5342C= (p.Ser1781=)
c.5390C= (p.Ser1797=)
c.4364C= (p.Ser1455=)
c.3945C=
c.3506C= (p.Ser1169=)
c.*1323C= (n.*1323C=)
c.4659C=
c.5432C= (p.Ser1811=)
c.5429C= (p.Ser1810=)
c.5384C= (p.Ser1795=)
c.4508C= (p.Ser1503=)
c.4277C= (p.Ser1426=)
10g.94298601C>GCA5613350PLCE1c.4466C>G (p.Ser1489Cys)
c.*1933C>G (n.*1933C>G)
n.2125C>G
n.809C>G
c.*674C>G (n.*674C>G)
c.4418C>G (p.Ser1473Cys)
n.9598C>G
n.3063C>G
c.5258C>G (p.Ser1753Cys)
c.5342C>G (p.Ser1781Cys)
c.5390C>G (p.Ser1797Cys)
c.4364C>G (p.Ser1455Cys)
c.3945C>G
c.3506C>G (p.Ser1169Cys)
c.*1323C>G (n.*1323C>G)
c.4659C>G
c.5432C>G (p.Ser1811Cys)
c.5429C>G (p.Ser1810Cys)
c.5384C>G (p.Ser1795Cys)
c.4508C>G (p.Ser1503Cys)
c.4277C>G (p.Ser1426Cys)
dbSNP ExAC gnomAD v2
10g.94298601C>TCA377642124PLCE1c.4466C>T (p.Ser1489Phe)
c.*1933C>T (n.*1933C>T)
n.2125C>T
n.809C>T
c.*674C>T (n.*674C>T)
c.4418C>T (p.Ser1473Phe)
n.9598C>T
n.3063C>T
c.5258C>T (p.Ser1753Phe)
c.5342C>T (p.Ser1781Phe)
c.5390C>T (p.Ser1797Phe)
c.4364C>T (p.Ser1455Phe)
c.3945C>T
c.3506C>T (p.Ser1169Phe)
c.*1323C>T (n.*1323C>T)
c.4659C>T
c.5432C>T (p.Ser1811Phe)
c.5429C>T (p.Ser1810Phe)
c.5384C>T (p.Ser1795Phe)
c.4508C>T (p.Ser1503Phe)
c.4277C>T (p.Ser1426Phe)
10g.94298602C>ACA470986613PLCE1c.4467C>A (p.Ser1489=)
c.*1934C>A (n.*1934C>A)
n.2126C>A
n.810C>A
c.*675C>A (n.*675C>A)
c.4419C>A (p.Ser1473=)
n.9599C>A
n.3064C>A
c.5259C>A (p.Ser1753=)
c.5343C>A (p.Ser1781=)
c.5391C>A (p.Ser1797=)
c.4365C>A (p.Ser1455=)
c.3946C>A
c.3507C>A (p.Ser1169=)
c.*1324C>A (n.*1324C>A)
c.4660C>A
c.5433C>A (p.Ser1811=)
c.5430C>A (p.Ser1810=)
c.5385C>A (p.Ser1795=)
c.4509C>A (p.Ser1503=)
c.4278C>A (p.Ser1426=)
10g.94298602C>GCA470986614PLCE1c.4467C>G (p.Ser1489=)
c.*1934C>G (n.*1934C>G)
n.2126C>G
n.810C>G
c.*675C>G (n.*675C>G)
c.4419C>G (p.Ser1473=)
n.9599C>G
n.3064C>G
c.5259C>G (p.Ser1753=)
c.5343C>G (p.Ser1781=)
c.5391C>G (p.Ser1797=)
c.4365C>G (p.Ser1455=)
c.3946C>G
c.3507C>G (p.Ser1169=)
c.*1324C>G (n.*1324C>G)
c.4660C>G
c.5433C>G (p.Ser1811=)
c.5430C>G (p.Ser1810=)
c.5385C>G (p.Ser1795=)
c.4509C>G (p.Ser1503=)
c.4278C>G (p.Ser1426=)
gnomAD v4
10g.94298602C>TCA470986615PLCE1c.4467C>T (p.Ser1489=)
c.*1934C>T (n.*1934C>T)
n.2126C>T
n.810C>T
c.*675C>T (n.*675C>T)
c.4419C>T (p.Ser1473=)
n.9599C>T
n.3064C>T
c.5259C>T (p.Ser1753=)
c.5343C>T (p.Ser1781=)
c.5391C>T (p.Ser1797=)
c.4365C>T (p.Ser1455=)
c.3946C>T
c.3507C>T (p.Ser1169=)
c.*1324C>T (n.*1324C>T)
c.4660C>T
c.5433C>T (p.Ser1811=)
c.5430C>T (p.Ser1810=)
c.5385C>T (p.Ser1795=)
c.4509C>T (p.Ser1503=)
c.4278C>T (p.Ser1426=)
10g.94298603A>CCA377642125PLCE1c.4468A>C (p.Asn1490His)
c.*1935A>C (n.*1935A>C)
n.2127A>C
n.811A>C
c.*676A>C (n.*676A>C)
c.4420A>C (p.Asn1474His)
n.9600A>C
n.3065A>C
c.5260A>C (p.Asn1754His)
c.5344A>C (p.Asn1782His)
c.5392A>C (p.Asn1798His)
c.4366A>C (p.Asn1456His)
c.3947A>C
c.3508A>C (p.Asn1170His)
c.*1325A>C (n.*1325A>C)
c.4661A>C
c.5434A>C (p.Asn1812His)
c.5431A>C (p.Asn1811His)
c.5386A>C (p.Asn1796His)
c.4510A>C (p.Asn1504His)
c.4279A>C (p.Asn1427His)
10g.94298603A>GCA377642126PLCE1c.4468A>G (p.Asn1490Asp)
c.*1935A>G (n.*1935A>G)
n.2127A>G
n.811A>G
c.*676A>G (n.*676A>G)
c.4420A>G (p.Asn1474Asp)
n.9600A>G
n.3065A>G
c.5260A>G (p.Asn1754Asp)
c.5344A>G (p.Asn1782Asp)
c.5392A>G (p.Asn1798Asp)
c.4366A>G (p.Asn1456Asp)
c.3947A>G
c.3508A>G (p.Asn1170Asp)
c.*1325A>G (n.*1325A>G)
c.4661A>G
c.5434A>G (p.Asn1812Asp)
c.5431A>G (p.Asn1811Asp)
c.5386A>G (p.Asn1796Asp)
c.4510A>G (p.Asn1504Asp)
c.4279A>G (p.Asn1427Asp)
10g.94298603A>TCA377642127PLCE1c.4468A>T (p.Asn1490Tyr)
c.*1935A>T (n.*1935A>T)
n.2127A>T
n.811A>T
c.*676A>T (n.*676A>T)
c.4420A>T (p.Asn1474Tyr)
n.9600A>T
n.3065A>T
c.5260A>T (p.Asn1754Tyr)
c.5344A>T (p.Asn1782Tyr)
c.5392A>T (p.Asn1798Tyr)
c.4366A>T (p.Asn1456Tyr)
c.3947A>T
c.3508A>T (p.Asn1170Tyr)
c.*1325A>T (n.*1325A>T)
c.4661A>T
c.5434A>T (p.Asn1812Tyr)
c.5431A>T (p.Asn1811Tyr)
c.5386A>T (p.Asn1796Tyr)
c.4510A>T (p.Asn1504Tyr)
c.4279A>T (p.Asn1427Tyr)
10g.94298604A>CCA377642130PLCE1c.4469A>C (p.Asn1490Thr)
c.*1936A>C (n.*1936A>C)
n.2128A>C
n.812A>C
c.*677A>C (n.*677A>C)
c.4421A>C (p.Asn1474Thr)
n.9601A>C
n.3066A>C
c.5261A>C (p.Asn1754Thr)
c.5345A>C (p.Asn1782Thr)
c.5393A>C (p.Asn1798Thr)
c.4367A>C (p.Asn1456Thr)
c.3948A>C
c.3509A>C (p.Asn1170Thr)
c.*1326A>C (n.*1326A>C)
c.4662A>C
c.5435A>C (p.Asn1812Thr)
c.5432A>C (p.Asn1811Thr)
c.5387A>C (p.Asn1796Thr)
c.4511A>C (p.Asn1504Thr)
c.4280A>C (p.Asn1427Thr)
10g.94298604A>GCA377642128PLCE1c.4469A>G (p.Asn1490Ser)
c.*1936A>G (n.*1936A>G)
n.2128A>G
n.812A>G
c.*677A>G (n.*677A>G)
c.4421A>G (p.Asn1474Ser)
n.9601A>G
n.3066A>G
c.5261A>G (p.Asn1754Ser)
c.5345A>G (p.Asn1782Ser)
c.5393A>G (p.Asn1798Ser)
c.4367A>G (p.Asn1456Ser)
c.3948A>G
c.3509A>G (p.Asn1170Ser)
c.*1326A>G (n.*1326A>G)
c.4662A>G
c.5435A>G (p.Asn1812Ser)
c.5432A>G (p.Asn1811Ser)
c.5387A>G (p.Asn1796Ser)
c.4511A>G (p.Asn1504Ser)
c.4280A>G (p.Asn1427Ser)
COSMIC COSMIC COSMIC
10g.94298604A>TCA377642129PLCE1c.4469A>T (p.Asn1490Ile)
c.*1936A>T (n.*1936A>T)
n.2128A>T
n.812A>T
c.*677A>T (n.*677A>T)
c.4421A>T (p.Asn1474Ile)
n.9601A>T
n.3066A>T
c.5261A>T (p.Asn1754Ile)
c.5345A>T (p.Asn1782Ile)
c.5393A>T (p.Asn1798Ile)
c.4367A>T (p.Asn1456Ile)
c.3948A>T
c.3509A>T (p.Asn1170Ile)
c.*1326A>T (n.*1326A>T)
c.4662A>T
c.5435A>T (p.Asn1812Ile)
c.5432A>T (p.Asn1811Ile)
c.5387A>T (p.Asn1796Ile)
c.4511A>T (p.Asn1504Ile)
c.4280A>T (p.Asn1427Ile)
10g.94298605C>ACA377642131PLCE1c.4470C>A (p.Asn1490Lys)
c.*1937C>A (n.*1937C>A)
n.2129C>A
n.813C>A
c.*678C>A (n.*678C>A)
c.4422C>A (p.Asn1474Lys)
n.9602C>A
n.3067C>A
c.5262C>A (p.Asn1754Lys)
c.5346C>A (p.Asn1782Lys)
c.5394C>A (p.Asn1798Lys)
c.4368C>A (p.Asn1456Lys)
c.3949C>A
c.3510C>A (p.Asn1170Lys)
c.*1327C>A (n.*1327C>A)
c.4663C>A
c.5436C>A (p.Asn1812Lys)
c.5433C>A (p.Asn1811Lys)
c.5388C>A (p.Asn1796Lys)
c.4512C>A (p.Asn1504Lys)
c.4281C>A (p.Asn1427Lys)
10g.94298605C>GCA377642132PLCE1c.4470C>G (p.Asn1490Lys)
c.*1937C>G (n.*1937C>G)
n.2129C>G
n.813C>G
c.*678C>G (n.*678C>G)
c.4422C>G (p.Asn1474Lys)
n.9602C>G
n.3067C>G
c.5262C>G (p.Asn1754Lys)
c.5346C>G (p.Asn1782Lys)
c.5394C>G (p.Asn1798Lys)
c.4368C>G (p.Asn1456Lys)
c.3949C>G
c.3510C>G (p.Asn1170Lys)
c.*1327C>G (n.*1327C>G)
c.4663C>G
c.5436C>G (p.Asn1812Lys)
c.5433C>G (p.Asn1811Lys)
c.5388C>G (p.Asn1796Lys)
c.4512C>G (p.Asn1504Lys)
c.4281C>G (p.Asn1427Lys)
10g.94298605C>TCA470986617PLCE1c.4470C>T (p.Asn1490=)
c.*1937C>T (n.*1937C>T)
n.2129C>T
n.813C>T
c.*678C>T (n.*678C>T)
c.4422C>T (p.Asn1474=)
n.9602C>T
n.3067C>T
c.5262C>T (p.Asn1754=)
c.5346C>T (p.Asn1782=)
c.5394C>T (p.Asn1798=)
c.4368C>T (p.Asn1456=)
c.3949C>T
c.3510C>T (p.Asn1170=)
c.*1327C>T (n.*1327C>T)
c.4663C>T
c.5436C>T (p.Asn1812=)
c.5433C>T (p.Asn1811=)
c.5388C>T (p.Asn1796=)
c.4512C>T (p.Asn1504=)
c.4281C>T (p.Asn1427=)
10g.94298606C>ACA377642133PLCE1c.4471C>A (p.Pro1491Thr)
c.*1938C>A (n.*1938C>A)
n.2130C>A
n.814C>A
c.*679C>A (n.*679C>A)
c.4423C>A (p.Pro1475Thr)
n.9603C>A
n.3068C>A
c.5263C>A (p.Pro1755Thr)
c.5347C>A (p.Pro1783Thr)
c.5395C>A (p.Pro1799Thr)
c.4369C>A (p.Pro1457Thr)
c.3950C>A
c.3511C>A (p.Pro1171Thr)
c.*1328C>A (n.*1328C>A)
c.4664C>A
c.5437C>A (p.Pro1813Thr)
c.5434C>A (p.Pro1812Thr)
c.5389C>A (p.Pro1797Thr)
c.4513C>A (p.Pro1505Thr)
c.4282C>A (p.Pro1428Thr)
10g.94298606C=CA1928998454PLCE1c.4471C= (p.Pro1491=)
c.*1938C= (n.*1938C=)
n.2130C=
n.814C=
c.*679C= (n.*679C=)
c.4423C= (p.Pro1475=)
n.9603C=
n.3068C=
c.5263C= (p.Pro1755=)
c.5347C= (p.Pro1783=)
c.5395C= (p.Pro1799=)
c.4369C= (p.Pro1457=)
c.3950C=
c.3511C= (p.Pro1171=)
c.*1328C= (n.*1328C=)
c.4664C=
c.5437C= (p.Pro1813=)
c.5434C= (p.Pro1812=)
c.5389C= (p.Pro1797=)
c.4513C= (p.Pro1505=)
c.4282C= (p.Pro1428=)
10g.94298606C>GCA377642134PLCE1c.4471C>G (p.Pro1491Ala)
c.*1938C>G (n.*1938C>G)
n.2130C>G
n.814C>G
c.*679C>G (n.*679C>G)
c.4423C>G (p.Pro1475Ala)
n.9603C>G
n.3068C>G
c.5263C>G (p.Pro1755Ala)
c.5347C>G (p.Pro1783Ala)
c.5395C>G (p.Pro1799Ala)
c.4369C>G (p.Pro1457Ala)
c.3950C>G
c.3511C>G (p.Pro1171Ala)
c.*1328C>G (n.*1328C>G)
c.4664C>G
c.5437C>G (p.Pro1813Ala)
c.5434C>G (p.Pro1812Ala)
c.5389C>G (p.Pro1797Ala)
c.4513C>G (p.Pro1505Ala)
c.4282C>G (p.Pro1428Ala)
dbSNP gnomAD v2 gnomAD v4
10g.94298606C>TCA377642135PLCE1c.4471C>T (p.Pro1491Ser)
c.*1938C>T (n.*1938C>T)
n.2130C>T
n.814C>T
c.*679C>T (n.*679C>T)
c.4423C>T (p.Pro1475Ser)
n.9603C>T
n.3068C>T
c.5263C>T (p.Pro1755Ser)
c.5347C>T (p.Pro1783Ser)
c.5395C>T (p.Pro1799Ser)
c.4369C>T (p.Pro1457Ser)
c.3950C>T
c.3511C>T (p.Pro1171Ser)
c.*1328C>T (n.*1328C>T)
c.4664C>T
c.5437C>T (p.Pro1813Ser)
c.5434C>T (p.Pro1812Ser)
c.5389C>T (p.Pro1797Ser)
c.4513C>T (p.Pro1505Ser)
c.4282C>T (p.Pro1428Ser)
gnomAD v4
10g.94298607C>ACA377642138PLCE1c.4472C>A (p.Pro1491Gln)
c.*1939C>A (n.*1939C>A)
n.2131C>A
n.815C>A
c.*680C>A (n.*680C>A)
c.4424C>A (p.Pro1475Gln)
n.9604C>A
n.3069C>A
c.5264C>A (p.Pro1755Gln)
c.5348C>A (p.Pro1783Gln)
c.5396C>A (p.Pro1799Gln)
c.4370C>A (p.Pro1457Gln)
c.3951C>A
c.3512C>A (p.Pro1171Gln)
c.*1329C>A (n.*1329C>A)
c.4665C>A
c.5438C>A (p.Pro1813Gln)
c.5435C>A (p.Pro1812Gln)
c.5390C>A (p.Pro1797Gln)
c.4514C>A (p.Pro1505Gln)
c.4283C>A (p.Pro1428Gln)
gnomAD v4
10g.94298607C=CA1928998455PLCE1c.4472C= (p.Pro1491=)
c.*1939C= (n.*1939C=)
n.2131C=
n.815C=
c.*680C= (n.*680C=)
c.4424C= (p.Pro1475=)
n.9604C=
n.3069C=
c.5264C= (p.Pro1755=)
c.5348C= (p.Pro1783=)
c.5396C= (p.Pro1799=)
c.4370C= (p.Pro1457=)
c.3951C=
c.3512C= (p.Pro1171=)
c.*1329C= (n.*1329C=)
c.4665C=
c.5438C= (p.Pro1813=)
c.5435C= (p.Pro1812=)
c.5390C= (p.Pro1797=)
c.4514C= (p.Pro1505=)
c.4283C= (p.Pro1428=)
10g.94298607C>GCA377642136PLCE1c.4472C>G (p.Pro1491Arg)
c.*1939C>G (n.*1939C>G)
n.2131C>G
n.815C>G
c.*680C>G (n.*680C>G)
c.4424C>G (p.Pro1475Arg)
n.9604C>G
n.3069C>G
c.5264C>G (p.Pro1755Arg)
c.5348C>G (p.Pro1783Arg)
c.5396C>G (p.Pro1799Arg)
c.4370C>G (p.Pro1457Arg)
c.3951C>G
c.3512C>G (p.Pro1171Arg)
c.*1329C>G (n.*1329C>G)
c.4665C>G
c.5438C>G (p.Pro1813Arg)
c.5435C>G (p.Pro1812Arg)
c.5390C>G (p.Pro1797Arg)
c.4514C>G (p.Pro1505Arg)
c.4283C>G (p.Pro1428Arg)
10g.94298607C>TCA377642137PLCE1c.4472C>T (p.Pro1491Leu)
c.*1939C>T (n.*1939C>T)
n.2131C>T
n.815C>T
c.*680C>T (n.*680C>T)
c.4424C>T (p.Pro1475Leu)
n.9604C>T
n.3069C>T
c.5264C>T (p.Pro1755Leu)
c.5348C>T (p.Pro1783Leu)
c.5396C>T (p.Pro1799Leu)
c.4370C>T (p.Pro1457Leu)
c.3951C>T
c.3512C>T (p.Pro1171Leu)
c.*1329C>T (n.*1329C>T)
c.4665C>T
c.5438C>T (p.Pro1813Leu)
c.5435C>T (p.Pro1812Leu)
c.5390C>T (p.Pro1797Leu)
c.4514C>T (p.Pro1505Leu)
c.4283C>T (p.Pro1428Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.94298608G>ACA5613351PLCE1c.4473G>A (p.Pro1491=)
c.*1940G>A (n.*1940G>A)
n.2132G>A
n.816G>A
c.*681G>A (n.*681G>A)
c.4425G>A (p.Pro1475=)
n.9605G>A
n.3070G>A
c.5265G>A (p.Pro1755=)
c.5349G>A (p.Pro1783=)
c.5397G>A (p.Pro1799=)
c.4371G>A (p.Pro1457=)
c.3952G>A
c.3513G>A (p.Pro1171=)
c.*1330G>A (n.*1330G>A)
c.4666G>A
c.5439G>A (p.Pro1813=)
c.5436G>A (p.Pro1812=)
c.5391G>A (p.Pro1797=)
c.4515G>A (p.Pro1505=)
c.4284G>A (p.Pro1428=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298608G>CCA470986618PLCE1c.4473G>C (p.Pro1491=)
c.*1940G>C (n.*1940G>C)
n.2132G>C
n.816G>C
c.*681G>C (n.*681G>C)
c.4425G>C (p.Pro1475=)
n.9605G>C
n.3070G>C
c.5265G>C (p.Pro1755=)
c.5349G>C (p.Pro1783=)
c.5397G>C (p.Pro1799=)
c.4371G>C (p.Pro1457=)
c.3952G>C
c.3513G>C (p.Pro1171=)
c.*1330G>C (n.*1330G>C)
c.4666G>C
c.5439G>C (p.Pro1813=)
c.5436G>C (p.Pro1812=)
c.5391G>C (p.Pro1797=)
c.4515G>C (p.Pro1505=)
c.4284G>C (p.Pro1428=)
10g.94298608G=CA1928998456PLCE1c.4473G= (p.Pro1491=)
c.*1940G= (n.*1940G=)
n.2132G=
n.816G=
c.*681G= (n.*681G=)
c.4425G= (p.Pro1475=)
n.9605G=
n.3070G=
c.5265G= (p.Pro1755=)
c.5349G= (p.Pro1783=)
c.5397G= (p.Pro1799=)
c.4371G= (p.Pro1457=)
c.3952G=
c.3513G= (p.Pro1171=)
c.*1330G= (n.*1330G=)
c.4666G=
c.5439G= (p.Pro1813=)
c.5436G= (p.Pro1812=)
c.5391G= (p.Pro1797=)
c.4515G= (p.Pro1505=)
c.4284G= (p.Pro1428=)
10g.94298608G>TCA470986619PLCE1c.4473G>T (p.Pro1491=)
c.*1940G>T (n.*1940G>T)
n.2132G>T
n.816G>T
c.*681G>T (n.*681G>T)
c.4425G>T (p.Pro1475=)
n.9605G>T
n.3070G>T
c.5265G>T (p.Pro1755=)
c.5349G>T (p.Pro1783=)
c.5397G>T (p.Pro1799=)
c.4371G>T (p.Pro1457=)
c.3952G>T
c.3513G>T (p.Pro1171=)
c.*1330G>T (n.*1330G>T)
c.4666G>T
c.5439G>T (p.Pro1813=)
c.5436G>T (p.Pro1812=)
c.5391G>T (p.Pro1797=)
c.4515G>T (p.Pro1505=)
c.4284G>T (p.Pro1428=)
10g.94298609A>CCA377642139PLCE1c.4474A>C (p.Asn1492His)
c.*1941A>C (n.*1941A>C)
n.2133A>C
n.817A>C
c.*682A>C (n.*682A>C)
c.4426A>C (p.Asn1476His)
n.9606A>C
n.3071A>C
c.5266A>C (p.Asn1756His)
c.5350A>C (p.Asn1784His)
c.5398A>C (p.Asn1800His)
c.4372A>C (p.Asn1458His)
c.3953A>C
c.3514A>C (p.Asn1172His)
c.*1331A>C (n.*1331A>C)
c.4667A>C
c.5440A>C (p.Asn1814His)
c.5437A>C (p.Asn1813His)
c.5392A>C (p.Asn1798His)
c.4516A>C (p.Asn1506His)
c.4285A>C (p.Asn1429His)
10g.94298609A>GCA377642140PLCE1c.4474A>G (p.Asn1492Asp)
c.*1941A>G (n.*1941A>G)
n.2133A>G
n.817A>G
c.*682A>G (n.*682A>G)
c.4426A>G (p.Asn1476Asp)
n.9606A>G
n.3071A>G
c.5266A>G (p.Asn1756Asp)
c.5350A>G (p.Asn1784Asp)
c.5398A>G (p.Asn1800Asp)
c.4372A>G (p.Asn1458Asp)
c.3953A>G
c.3514A>G (p.Asn1172Asp)
c.*1331A>G (n.*1331A>G)
c.4667A>G
c.5440A>G (p.Asn1814Asp)
c.5437A>G (p.Asn1813Asp)
c.5392A>G (p.Asn1798Asp)
c.4516A>G (p.Asn1506Asp)
c.4285A>G (p.Asn1429Asp)
10g.94298609A>TCA377642141PLCE1c.4474A>T (p.Asn1492Tyr)
c.*1941A>T (n.*1941A>T)
n.2133A>T
n.817A>T
c.*682A>T (n.*682A>T)
c.4426A>T (p.Asn1476Tyr)
n.9606A>T
n.3071A>T
c.5266A>T (p.Asn1756Tyr)
c.5350A>T (p.Asn1784Tyr)
c.5398A>T (p.Asn1800Tyr)
c.4372A>T (p.Asn1458Tyr)
c.3953A>T
c.3514A>T (p.Asn1172Tyr)
c.*1331A>T (n.*1331A>T)
c.4667A>T
c.5440A>T (p.Asn1814Tyr)
c.5437A>T (p.Asn1813Tyr)
c.5392A>T (p.Asn1798Tyr)
c.4516A>T (p.Asn1506Tyr)
c.4285A>T (p.Asn1429Tyr)
10g.94298610A>CCA377642142PLCE1c.4475A>C (p.Asn1492Thr)
c.*1942A>C (n.*1942A>C)
n.2134A>C
n.818A>C
c.*683A>C (n.*683A>C)
c.4427A>C (p.Asn1476Thr)
n.9607A>C
n.3072A>C
c.5267A>C (p.Asn1756Thr)
c.5351A>C (p.Asn1784Thr)
c.5399A>C (p.Asn1800Thr)
c.4373A>C (p.Asn1458Thr)
c.3954A>C
c.3515A>C (p.Asn1172Thr)
c.*1332A>C (n.*1332A>C)
c.4668A>C
c.5441A>C (p.Asn1814Thr)
c.5438A>C (p.Asn1813Thr)
c.5393A>C (p.Asn1798Thr)
c.4517A>C (p.Asn1506Thr)
c.4286A>C (p.Asn1429Thr)
10g.94298610A>GCA377642143PLCE1c.4475A>G (p.Asn1492Ser)
c.*1942A>G (n.*1942A>G)
n.2134A>G
n.818A>G
c.*683A>G (n.*683A>G)
c.4427A>G (p.Asn1476Ser)
n.9607A>G
n.3072A>G
c.5267A>G (p.Asn1756Ser)
c.5351A>G (p.Asn1784Ser)
c.5399A>G (p.Asn1800Ser)
c.4373A>G (p.Asn1458Ser)
c.3954A>G
c.3515A>G (p.Asn1172Ser)
c.*1332A>G (n.*1332A>G)
c.4668A>G
c.5441A>G (p.Asn1814Ser)
c.5438A>G (p.Asn1813Ser)
c.5393A>G (p.Asn1798Ser)
c.4517A>G (p.Asn1506Ser)
c.4286A>G (p.Asn1429Ser)
ClinVar
10g.94298610A>TCA377642144PLCE1c.4475A>T (p.Asn1492Ile)
c.*1942A>T (n.*1942A>T)
n.2134A>T
n.818A>T
c.*683A>T (n.*683A>T)
c.4427A>T (p.Asn1476Ile)
n.9607A>T
n.3072A>T
c.5267A>T (p.Asn1756Ile)
c.5351A>T (p.Asn1784Ile)
c.5399A>T (p.Asn1800Ile)
c.4373A>T (p.Asn1458Ile)
c.3954A>T
c.3515A>T (p.Asn1172Ile)
c.*1332A>T (n.*1332A>T)
c.4668A>T
c.5441A>T (p.Asn1814Ile)
c.5438A>T (p.Asn1813Ile)
c.5393A>T (p.Asn1798Ile)
c.4517A>T (p.Asn1506Ile)
c.4286A>T (p.Asn1429Ile)
10g.94298611C>ACA377642145PLCE1c.4476C>A (p.Asn1492Lys)
c.*1943C>A (n.*1943C>A)
n.2135C>A
n.819C>A
c.*684C>A (n.*684C>A)
c.4428C>A (p.Asn1476Lys)
n.9608C>A
n.3073C>A
c.5268C>A (p.Asn1756Lys)
c.5352C>A (p.Asn1784Lys)
c.5400C>A (p.Asn1800Lys)
c.4374C>A (p.Asn1458Lys)
c.3955C>A
c.3516C>A (p.Asn1172Lys)
c.*1333C>A (n.*1333C>A)
c.4669C>A
c.5442C>A (p.Asn1814Lys)
c.5439C>A (p.Asn1813Lys)
c.5394C>A (p.Asn1798Lys)
c.4518C>A (p.Asn1506Lys)
c.4287C>A (p.Asn1429Lys)
10g.94298611C>GCA377642146PLCE1c.4476C>G (p.Asn1492Lys)
c.*1943C>G (n.*1943C>G)
n.2135C>G
n.819C>G
c.*684C>G (n.*684C>G)
c.4428C>G (p.Asn1476Lys)
n.9608C>G
n.3073C>G
c.5268C>G (p.Asn1756Lys)
c.5352C>G (p.Asn1784Lys)
c.5400C>G (p.Asn1800Lys)
c.4374C>G (p.Asn1458Lys)
c.3955C>G
c.3516C>G (p.Asn1172Lys)
c.*1333C>G (n.*1333C>G)
c.4669C>G
c.5442C>G (p.Asn1814Lys)
c.5439C>G (p.Asn1813Lys)
c.5394C>G (p.Asn1798Lys)
c.4518C>G (p.Asn1506Lys)
c.4287C>G (p.Asn1429Lys)
10g.94298611C>TCA470986620PLCE1c.4476C>T (p.Asn1492=)
c.*1943C>T (n.*1943C>T)
n.2135C>T
n.819C>T
c.*684C>T (n.*684C>T)
c.4428C>T (p.Asn1476=)
n.9608C>T
n.3073C>T
c.5268C>T (p.Asn1756=)
c.5352C>T (p.Asn1784=)
c.5400C>T (p.Asn1800=)
c.4374C>T (p.Asn1458=)
c.3955C>T
c.3516C>T (p.Asn1172=)
c.*1333C>T (n.*1333C>T)
c.4669C>T
c.5442C>T (p.Asn1814=)
c.5439C>T (p.Asn1813=)
c.5394C>T (p.Asn1798=)
c.4518C>T (p.Asn1506=)
c.4287C>T (p.Asn1429=)
10g.94298615delCA2610239649PLCE1c.4480del (p.Leu1494SerfsTer24)
c.*1947del (n.*1947del)
n.2139del
n.823del
c.*688del (n.*688del)
c.4432del (p.Leu1478SerfsTer24)
n.9612del
n.3077del
c.5272del (p.Leu1758SerfsTer24)
c.5356del (p.Leu1786SerfsTer24)
c.5404del (p.Leu1802SerfsTer24)
c.4378del (p.Leu1460SerfsTer24)
c.3959del
c.3520del (p.Leu1174SerfsTer24)
c.*1337del (n.*1337del)
c.4673del
c.5446del (p.Leu1816SerfsTer24)
c.5443del (p.Leu1815SerfsTer24)
c.5398del (p.Leu1800SerfsTer24)
c.4522del (p.Leu1508SerfsTer24)
c.4291del (p.Leu1431SerfsTer24)
gnomAD v4
10g.94298612C>ACA377642147PLCE1c.4477C>A (p.Pro1493Thr)
c.*1944C>A (n.*1944C>A)
n.2136C>A
n.820C>A
c.*685C>A (n.*685C>A)
c.4429C>A (p.Pro1477Thr)
n.9609C>A
n.3074C>A
c.5269C>A (p.Pro1757Thr)
c.5353C>A (p.Pro1785Thr)
c.5401C>A (p.Pro1801Thr)
c.4375C>A (p.Pro1459Thr)
c.3956C>A
c.3517C>A (p.Pro1173Thr)
c.*1334C>A (n.*1334C>A)
c.4670C>A
c.5443C>A (p.Pro1815Thr)
c.5440C>A (p.Pro1814Thr)
c.5395C>A (p.Pro1799Thr)
c.4519C>A (p.Pro1507Thr)
c.4288C>A (p.Pro1430Thr)
10g.94298612C>GCA377642148PLCE1c.4477C>G (p.Pro1493Ala)
c.*1944C>G (n.*1944C>G)
n.2136C>G
n.820C>G
c.*685C>G (n.*685C>G)
c.4429C>G (p.Pro1477Ala)
n.9609C>G
n.3074C>G
c.5269C>G (p.Pro1757Ala)
c.5353C>G (p.Pro1785Ala)
c.5401C>G (p.Pro1801Ala)
c.4375C>G (p.Pro1459Ala)
c.3956C>G
c.3517C>G (p.Pro1173Ala)
c.*1334C>G (n.*1334C>G)
c.4670C>G
c.5443C>G (p.Pro1815Ala)
c.5440C>G (p.Pro1814Ala)
c.5395C>G (p.Pro1799Ala)
c.4519C>G (p.Pro1507Ala)
c.4288C>G (p.Pro1430Ala)
10g.94298612C>TCA377642149PLCE1c.4477C>T (p.Pro1493Ser)
c.*1944C>T (n.*1944C>T)
n.2136C>T
n.820C>T
c.*685C>T (n.*685C>T)
c.4429C>T (p.Pro1477Ser)
n.9609C>T
n.3074C>T
c.5269C>T (p.Pro1757Ser)
c.5353C>T (p.Pro1785Ser)
c.5401C>T (p.Pro1801Ser)
c.4375C>T (p.Pro1459Ser)
c.3956C>T
c.3517C>T (p.Pro1173Ser)
c.*1334C>T (n.*1334C>T)
c.4670C>T
c.5443C>T (p.Pro1815Ser)
c.5440C>T (p.Pro1814Ser)
c.5395C>T (p.Pro1799Ser)
c.4519C>T (p.Pro1507Ser)
c.4288C>T (p.Pro1430Ser)
10g.94298613C>ACA377642150PLCE1c.4478C>A (p.Pro1493His)
c.*1945C>A (n.*1945C>A)
n.2137C>A
n.821C>A
c.*686C>A (n.*686C>A)
c.4430C>A (p.Pro1477His)
n.9610C>A
n.3075C>A
c.5270C>A (p.Pro1757His)
c.5354C>A (p.Pro1785His)
c.5402C>A (p.Pro1801His)
c.4376C>A (p.Pro1459His)
c.3957C>A
c.3518C>A (p.Pro1173His)
c.*1335C>A (n.*1335C>A)
c.4671C>A
c.5444C>A (p.Pro1815His)
c.5441C>A (p.Pro1814His)
c.5396C>A (p.Pro1799His)
c.4520C>A (p.Pro1507His)
c.4289C>A (p.Pro1430His)
10g.94298613C>GCA377642152PLCE1c.4478C>G (p.Pro1493Arg)
c.*1945C>G (n.*1945C>G)
n.2137C>G
n.821C>G
c.*686C>G (n.*686C>G)
c.4430C>G (p.Pro1477Arg)
n.9610C>G
n.3075C>G
c.5270C>G (p.Pro1757Arg)
c.5354C>G (p.Pro1785Arg)
c.5402C>G (p.Pro1801Arg)
c.4376C>G (p.Pro1459Arg)
c.3957C>G
c.3518C>G (p.Pro1173Arg)
c.*1335C>G (n.*1335C>G)
c.4671C>G
c.5444C>G (p.Pro1815Arg)
c.5441C>G (p.Pro1814Arg)
c.5396C>G (p.Pro1799Arg)
c.4520C>G (p.Pro1507Arg)
c.4289C>G (p.Pro1430Arg)
gnomAD v4
10g.94298613C>TCA377642151PLCE1c.4478C>T (p.Pro1493Leu)
c.*1945C>T (n.*1945C>T)
n.2137C>T
n.821C>T
c.*686C>T (n.*686C>T)
c.4430C>T (p.Pro1477Leu)
n.9610C>T
n.3075C>T
c.5270C>T (p.Pro1757Leu)
c.5354C>T (p.Pro1785Leu)
c.5402C>T (p.Pro1801Leu)
c.4376C>T (p.Pro1459Leu)
c.3957C>T
c.3518C>T (p.Pro1173Leu)
c.*1335C>T (n.*1335C>T)
c.4671C>T
c.5444C>T (p.Pro1815Leu)
c.5441C>T (p.Pro1814Leu)
c.5396C>T (p.Pro1799Leu)
c.4520C>T (p.Pro1507Leu)
c.4289C>T (p.Pro1430Leu)
10g.94298614C>ACA211599812PLCE1c.4479C>A (p.Pro1493=)
c.*1946C>A (n.*1946C>A)
n.2138C>A
n.822C>A
c.*687C>A (n.*687C>A)
c.4431C>A (p.Pro1477=)
n.9611C>A
n.3076C>A
c.5271C>A (p.Pro1757=)
c.5355C>A (p.Pro1785=)
c.5403C>A (p.Pro1801=)
c.4377C>A (p.Pro1459=)
c.3958C>A
c.3519C>A (p.Pro1173=)
c.*1336C>A (n.*1336C>A)
c.4672C>A
c.5445C>A (p.Pro1815=)
c.5442C>A (p.Pro1814=)
c.5397C>A (p.Pro1799=)
c.4521C>A (p.Pro1507=)
c.4290C>A (p.Pro1430=)
dbSNP
10g.94298614C=CA1928998457PLCE1c.4479C= (p.Pro1493=)
c.*1946C= (n.*1946C=)
n.2138C=
n.822C=
c.*687C= (n.*687C=)
c.4431C= (p.Pro1477=)
n.9611C=
n.3076C=
c.5271C= (p.Pro1757=)
c.5355C= (p.Pro1785=)
c.5403C= (p.Pro1801=)
c.4377C= (p.Pro1459=)
c.3958C=
c.3519C= (p.Pro1173=)
c.*1336C= (n.*1336C=)
c.4672C=
c.5445C= (p.Pro1815=)
c.5442C= (p.Pro1814=)
c.5397C= (p.Pro1799=)
c.4521C= (p.Pro1507=)
c.4290C= (p.Pro1430=)
10g.94298614C>GCA470986621PLCE1c.4479C>G (p.Pro1493=)
c.*1946C>G (n.*1946C>G)
n.2138C>G
n.822C>G
c.*687C>G (n.*687C>G)
c.4431C>G (p.Pro1477=)
n.9611C>G
n.3076C>G
c.5271C>G (p.Pro1757=)
c.5355C>G (p.Pro1785=)
c.5403C>G (p.Pro1801=)
c.4377C>G (p.Pro1459=)
c.3958C>G
c.3519C>G (p.Pro1173=)
c.*1336C>G (n.*1336C>G)
c.4672C>G
c.5445C>G (p.Pro1815=)
c.5442C>G (p.Pro1814=)
c.5397C>G (p.Pro1799=)
c.4521C>G (p.Pro1507=)
c.4290C>G (p.Pro1430=)
10g.94298614C>TCA470986622PLCE1c.4479C>T (p.Pro1493=)
c.*1946C>T (n.*1946C>T)
n.2138C>T
n.822C>T
c.*687C>T (n.*687C>T)
c.4431C>T (p.Pro1477=)
n.9611C>T
n.3076C>T
c.5271C>T (p.Pro1757=)
c.5355C>T (p.Pro1785=)
c.5403C>T (p.Pro1801=)
c.4377C>T (p.Pro1459=)
c.3958C>T
c.3519C>T (p.Pro1173=)
c.*1336C>T (n.*1336C>T)
c.4672C>T
c.5445C>T (p.Pro1815=)
c.5442C>T (p.Pro1814=)
c.5397C>T (p.Pro1799=)
c.4521C>T (p.Pro1507=)
c.4290C>T (p.Pro1430=)
gnomAD v4 COSMIC COSMIC COSMIC COSMIC
10g.94298615C>ACA377642153PLCE1c.4480C>A (p.Leu1494Ile)
c.*1947C>A (n.*1947C>A)
n.2139C>A
n.823C>A
c.*688C>A (n.*688C>A)
c.4432C>A (p.Leu1478Ile)
n.9612C>A
n.3077C>A
c.5272C>A (p.Leu1758Ile)
c.5356C>A (p.Leu1786Ile)
c.5404C>A (p.Leu1802Ile)
c.4378C>A (p.Leu1460Ile)
c.3959C>A
c.3520C>A (p.Leu1174Ile)
c.*1337C>A (n.*1337C>A)
c.4673C>A
c.5446C>A (p.Leu1816Ile)
c.5443C>A (p.Leu1815Ile)
c.5398C>A (p.Leu1800Ile)
c.4522C>A (p.Leu1508Ile)
c.4291C>A (p.Leu1431Ile)
10g.94298615C>GCA377642154PLCE1c.4480C>G (p.Leu1494Val)
c.*1947C>G (n.*1947C>G)
n.2139C>G
n.823C>G
c.*688C>G (n.*688C>G)
c.4432C>G (p.Leu1478Val)
n.9612C>G
n.3077C>G
c.5272C>G (p.Leu1758Val)
c.5356C>G (p.Leu1786Val)
c.5404C>G (p.Leu1802Val)
c.4378C>G (p.Leu1460Val)
c.3959C>G
c.3520C>G (p.Leu1174Val)
c.*1337C>G (n.*1337C>G)
c.4673C>G
c.5446C>G (p.Leu1816Val)
c.5443C>G (p.Leu1815Val)
c.5398C>G (p.Leu1800Val)
c.4522C>G (p.Leu1508Val)
c.4291C>G (p.Leu1431Val)
10g.94298615C>TCA377642155PLCE1c.4480C>T (p.Leu1494Phe)
c.*1947C>T (n.*1947C>T)
n.2139C>T
n.823C>T
c.*688C>T (n.*688C>T)
c.4432C>T (p.Leu1478Phe)
n.9612C>T
n.3077C>T
c.5272C>T (p.Leu1758Phe)
c.5356C>T (p.Leu1786Phe)
c.5404C>T (p.Leu1802Phe)
c.4378C>T (p.Leu1460Phe)
c.3959C>T
c.3520C>T (p.Leu1174Phe)
c.*1337C>T (n.*1337C>T)
c.4673C>T
c.5446C>T (p.Leu1816Phe)
c.5443C>T (p.Leu1815Phe)
c.5398C>T (p.Leu1800Phe)
c.4522C>T (p.Leu1508Phe)
c.4291C>T (p.Leu1431Phe)
gnomAD v4
10g.94298616T>ACA377642156PLCE1c.4481T>A (p.Leu1494His)
c.*1948T>A (n.*1948T>A)
n.2140T>A
n.824T>A
c.*689T>A (n.*689T>A)
c.4433T>A (p.Leu1478His)
n.9613T>A
n.3078T>A
c.5273T>A (p.Leu1758His)
c.5357T>A (p.Leu1786His)
c.5405T>A (p.Leu1802His)
c.4379T>A (p.Leu1460His)
c.3960T>A
c.3521T>A (p.Leu1174His)
c.*1338T>A (n.*1338T>A)
c.4674T>A
c.5447T>A (p.Leu1816His)
c.5444T>A (p.Leu1815His)
c.5399T>A (p.Leu1800His)
c.4523T>A (p.Leu1508His)
c.4292T>A (p.Leu1431His)
10g.94298616T>CCA377642157PLCE1c.4481T>C (p.Leu1494Pro)
c.*1948T>C (n.*1948T>C)
n.2140T>C
n.824T>C
c.*689T>C (n.*689T>C)
c.4433T>C (p.Leu1478Pro)
n.9613T>C
n.3078T>C
c.5273T>C (p.Leu1758Pro)
c.5357T>C (p.Leu1786Pro)
c.5405T>C (p.Leu1802Pro)
c.4379T>C (p.Leu1460Pro)
c.3960T>C
c.3521T>C (p.Leu1174Pro)
c.*1338T>C (n.*1338T>C)
c.4674T>C
c.5447T>C (p.Leu1816Pro)
c.5444T>C (p.Leu1815Pro)
c.5399T>C (p.Leu1800Pro)
c.4523T>C (p.Leu1508Pro)
c.4292T>C (p.Leu1431Pro)
10g.94298616T>GCA377642158PLCE1c.4481T>G (p.Leu1494Arg)
c.*1948T>G (n.*1948T>G)
n.2140T>G
n.824T>G
c.*689T>G (n.*689T>G)
c.4433T>G (p.Leu1478Arg)
n.9613T>G
n.3078T>G
c.5273T>G (p.Leu1758Arg)
c.5357T>G (p.Leu1786Arg)
c.5405T>G (p.Leu1802Arg)
c.4379T>G (p.Leu1460Arg)
c.3960T>G
c.3521T>G (p.Leu1174Arg)
c.*1338T>G (n.*1338T>G)
c.4674T>G
c.5447T>G (p.Leu1816Arg)
c.5444T>G (p.Leu1815Arg)
c.5399T>G (p.Leu1800Arg)
c.4523T>G (p.Leu1508Arg)
c.4292T>G (p.Leu1431Arg)
10g.94298617C>ACA470986623PLCE1c.4482C>A (p.Leu1494=)
c.*1949C>A (n.*1949C>A)
n.2141C>A
n.825C>A
c.*690C>A (n.*690C>A)
c.4434C>A (p.Leu1478=)
n.9614C>A
n.3079C>A
c.5274C>A (p.Leu1758=)
c.5358C>A (p.Leu1786=)
c.5406C>A (p.Leu1802=)
c.4380C>A (p.Leu1460=)
c.3961C>A
c.3522C>A (p.Leu1174=)
c.*1339C>A (n.*1339C>A)
c.4675C>A
c.5448C>A (p.Leu1816=)
c.5445C>A (p.Leu1815=)
c.5400C>A (p.Leu1800=)
c.4524C>A (p.Leu1508=)
c.4293C>A (p.Leu1431=)
10g.94298617C=CA1928998458PLCE1c.4482C= (p.Leu1494=)
c.*1949C= (n.*1949C=)
n.2141C=
n.825C=
c.*690C= (n.*690C=)
c.4434C= (p.Leu1478=)
n.9614C=
n.3079C=
c.5274C= (p.Leu1758=)
c.5358C= (p.Leu1786=)
c.5406C= (p.Leu1802=)
c.4380C= (p.Leu1460=)
c.3961C=
c.3522C= (p.Leu1174=)
c.*1339C= (n.*1339C=)
c.4675C=
c.5448C= (p.Leu1816=)
c.5445C= (p.Leu1815=)
c.5400C= (p.Leu1800=)
c.4524C= (p.Leu1508=)
c.4293C= (p.Leu1431=)
10g.94298617C>GCA470986625PLCE1c.4482C>G (p.Leu1494=)
c.*1949C>G (n.*1949C>G)
n.2141C>G
n.825C>G
c.*690C>G (n.*690C>G)
c.4434C>G (p.Leu1478=)
n.9614C>G
n.3079C>G
c.5274C>G (p.Leu1758=)
c.5358C>G (p.Leu1786=)
c.5406C>G (p.Leu1802=)
c.4380C>G (p.Leu1460=)
c.3961C>G
c.3522C>G (p.Leu1174=)
c.*1339C>G (n.*1339C>G)
c.4675C>G
c.5448C>G (p.Leu1816=)
c.5445C>G (p.Leu1815=)
c.5400C>G (p.Leu1800=)
c.4524C>G (p.Leu1508=)
c.4293C>G (p.Leu1431=)
10g.94298617C>TCA470986624PLCE1c.4482C>T (p.Leu1494=)
c.*1949C>T (n.*1949C>T)
n.2141C>T
n.825C>T
c.*690C>T (n.*690C>T)
c.4434C>T (p.Leu1478=)
n.9614C>T
n.3079C>T
c.5274C>T (p.Leu1758=)
c.5358C>T (p.Leu1786=)
c.5406C>T (p.Leu1802=)
c.4380C>T (p.Leu1460=)
c.3961C>T
c.3522C>T (p.Leu1174=)
c.*1339C>T (n.*1339C>T)
c.4675C>T
c.5448C>T (p.Leu1816=)
c.5445C>T (p.Leu1815=)
c.5400C>T (p.Leu1800=)
c.4524C>T (p.Leu1508=)
c.4293C>T (p.Leu1431=)
dbSNP gnomAD v2 gnomAD v4
10g.94298618A>CCA377642159PLCE1c.4483A>C (p.Met1495Leu)
c.*1950A>C (n.*1950A>C)
n.2142A>C
n.826A>C
c.*691A>C (n.*691A>C)
c.4435A>C (p.Met1479Leu)
n.9615A>C
n.3080A>C
c.5275A>C (p.Met1759Leu)
c.5359A>C (p.Met1787Leu)
c.5407A>C (p.Met1803Leu)
c.4381A>C (p.Met1461Leu)
c.3962A>C
c.3523A>C (p.Met1175Leu)
c.*1340A>C (n.*1340A>C)
c.4676A>C
c.5449A>C (p.Met1817Leu)
c.5446A>C (p.Met1816Leu)
c.5401A>C (p.Met1801Leu)
c.4525A>C (p.Met1509Leu)
c.4294A>C (p.Met1432Leu)
10g.94298618A>GCA377642160PLCE1c.4483A>G (p.Met1495Val)
c.*1950A>G (n.*1950A>G)
n.2142A>G
n.826A>G
c.*691A>G (n.*691A>G)
c.4435A>G (p.Met1479Val)
n.9615A>G
n.3080A>G
c.5275A>G (p.Met1759Val)
c.5359A>G (p.Met1787Val)
c.5407A>G (p.Met1803Val)
c.4381A>G (p.Met1461Val)
c.3962A>G
c.3523A>G (p.Met1175Val)
c.*1340A>G (n.*1340A>G)
c.4676A>G
c.5449A>G (p.Met1817Val)
c.5446A>G (p.Met1816Val)
c.5401A>G (p.Met1801Val)
c.4525A>G (p.Met1509Val)
c.4294A>G (p.Met1432Val)
gnomAD v4
10g.94298618A>TCA377642162PLCE1c.4483A>T (p.Met1495Leu)
c.*1950A>T (n.*1950A>T)
n.2142A>T
n.826A>T
c.*691A>T (n.*691A>T)
c.4435A>T (p.Met1479Leu)
n.9615A>T
n.3080A>T
c.5275A>T (p.Met1759Leu)
c.5359A>T (p.Met1787Leu)
c.5407A>T (p.Met1803Leu)
c.4381A>T (p.Met1461Leu)
c.3962A>T
c.3523A>T (p.Met1175Leu)
c.*1340A>T (n.*1340A>T)
c.4676A>T
c.5449A>T (p.Met1817Leu)
c.5446A>T (p.Met1816Leu)
c.5401A>T (p.Met1801Leu)
c.4525A>T (p.Met1509Leu)
c.4294A>T (p.Met1432Leu)
10g.94298619T>ACA377642165PLCE1c.4484T>A (p.Met1495Lys)
c.*1951T>A (n.*1951T>A)
n.2143T>A
n.827T>A
c.*692T>A (n.*692T>A)
c.4436T>A (p.Met1479Lys)
n.9616T>A
n.3081T>A
c.5276T>A (p.Met1759Lys)
c.5360T>A (p.Met1787Lys)
c.5408T>A (p.Met1803Lys)
c.4382T>A (p.Met1461Lys)
c.3963T>A
c.3524T>A (p.Met1175Lys)
c.*1341T>A (n.*1341T>A)
c.4677T>A
c.5450T>A (p.Met1817Lys)
c.5447T>A (p.Met1816Lys)
c.5402T>A (p.Met1801Lys)
c.4526T>A (p.Met1509Lys)
c.4295T>A (p.Met1432Lys)
10g.94298619T>CCA377642166PLCE1c.4484T>C (p.Met1495Thr)
c.*1951T>C (n.*1951T>C)
n.2143T>C
n.827T>C
c.*692T>C (n.*692T>C)
c.4436T>C (p.Met1479Thr)
n.9616T>C
n.3081T>C
c.5276T>C (p.Met1759Thr)
c.5360T>C (p.Met1787Thr)
c.5408T>C (p.Met1803Thr)
c.4382T>C (p.Met1461Thr)
c.3963T>C
c.3524T>C (p.Met1175Thr)
c.*1341T>C (n.*1341T>C)
c.4677T>C
c.5450T>C (p.Met1817Thr)
c.5447T>C (p.Met1816Thr)
c.5402T>C (p.Met1801Thr)
c.4526T>C (p.Met1509Thr)
c.4295T>C (p.Met1432Thr)
10g.94298619T>GCA377642167PLCE1c.4484T>G (p.Met1495Arg)
c.*1951T>G (n.*1951T>G)
n.2143T>G
n.827T>G
c.*692T>G (n.*692T>G)
c.4436T>G (p.Met1479Arg)
n.9616T>G
n.3081T>G
c.5276T>G (p.Met1759Arg)
c.5360T>G (p.Met1787Arg)
c.5408T>G (p.Met1803Arg)
c.4382T>G (p.Met1461Arg)
c.3963T>G
c.3524T>G (p.Met1175Arg)
c.*1341T>G (n.*1341T>G)
c.4677T>G
c.5450T>G (p.Met1817Arg)
c.5447T>G (p.Met1816Arg)
c.5402T>G (p.Met1801Arg)
c.4526T>G (p.Met1509Arg)
c.4295T>G (p.Met1432Arg)
10g.94298620G>ACA5613352PLCE1c.4485G>A (p.Met1495Ile)
c.*1952G>A (n.*1952G>A)
n.2144G>A
n.828G>A
c.*693G>A (n.*693G>A)
c.4437G>A (p.Met1479Ile)
n.9617G>A
n.3082G>A
c.5277G>A (p.Met1759Ile)
c.5361G>A (p.Met1787Ile)
c.5409G>A (p.Met1803Ile)
c.4383G>A (p.Met1461Ile)
c.3964G>A
c.3525G>A (p.Met1175Ile)
c.*1342G>A (n.*1342G>A)
c.4678G>A
c.5451G>A (p.Met1817Ile)
c.5448G>A (p.Met1816Ile)
c.5403G>A (p.Met1801Ile)
c.4527G>A (p.Met1509Ile)
c.4296G>A (p.Met1432Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298620G>CCA377642170PLCE1c.4485G>C (p.Met1495Ile)
c.*1952G>C (n.*1952G>C)
n.2144G>C
n.828G>C
c.*693G>C (n.*693G>C)
c.4437G>C (p.Met1479Ile)
n.9617G>C
n.3082G>C
c.5277G>C (p.Met1759Ile)
c.5361G>C (p.Met1787Ile)
c.5409G>C (p.Met1803Ile)
c.4383G>C (p.Met1461Ile)
c.3964G>C
c.3525G>C (p.Met1175Ile)
c.*1342G>C (n.*1342G>C)
c.4678G>C
c.5451G>C (p.Met1817Ile)
c.5448G>C (p.Met1816Ile)
c.5403G>C (p.Met1801Ile)
c.4527G>C (p.Met1509Ile)
c.4296G>C (p.Met1432Ile)
10g.94298620G=CA1928998459PLCE1c.4485G= (p.Met1495=)
c.*1952G= (n.*1952G=)
n.2144G=
n.828G=
c.*693G= (n.*693G=)
c.4437G= (p.Met1479=)
n.9617G=
n.3082G=
c.5277G= (p.Met1759=)
c.5361G= (p.Met1787=)
c.5409G= (p.Met1803=)
c.4383G= (p.Met1461=)
c.3964G=
c.3525G= (p.Met1175=)
c.*1342G= (n.*1342G=)
c.4678G=
c.5451G= (p.Met1817=)
c.5448G= (p.Met1816=)
c.5403G= (p.Met1801=)
c.4527G= (p.Met1509=)
c.4296G= (p.Met1432=)
10g.94298620G>TCA377642172PLCE1c.4485G>T (p.Met1495Ile)
c.*1952G>T (n.*1952G>T)
n.2144G>T
n.828G>T
c.*693G>T (n.*693G>T)
c.4437G>T (p.Met1479Ile)
n.9617G>T
n.3082G>T
c.5277G>T (p.Met1759Ile)
c.5361G>T (p.Met1787Ile)
c.5409G>T (p.Met1803Ile)
c.4383G>T (p.Met1461Ile)
c.3964G>T
c.3525G>T (p.Met1175Ile)
c.*1342G>T (n.*1342G>T)
c.4678G>T
c.5451G>T (p.Met1817Ile)
c.5448G>T (p.Met1816Ile)
c.5403G>T (p.Met1801Ile)
c.4527G>T (p.Met1509Ile)
c.4296G>T (p.Met1432Ile)
10g.94298621T>ACA377642175PLCE1c.4486T>A (p.Phe1496Ile)
c.*1953T>A (n.*1953T>A)
n.2145T>A
n.829T>A
c.*694T>A (n.*694T>A)
c.4438T>A (p.Phe1480Ile)
n.9618T>A
n.3083T>A
c.5278T>A (p.Phe1760Ile)
c.5362T>A (p.Phe1788Ile)
c.5410T>A (p.Phe1804Ile)
c.4384T>A (p.Phe1462Ile)
c.3965T>A
c.3526T>A (p.Phe1176Ile)
c.*1343T>A (n.*1343T>A)
c.4679T>A
c.5452T>A (p.Phe1818Ile)
c.5449T>A (p.Phe1817Ile)
c.5404T>A (p.Phe1802Ile)
c.4528T>A (p.Phe1510Ile)
c.4297T>A (p.Phe1433Ile)
dbSNP
10g.94298621T>CCA377642177PLCE1c.4486T>C (p.Phe1496Leu)
c.*1953T>C (n.*1953T>C)
n.2145T>C
n.829T>C
c.*694T>C (n.*694T>C)
c.4438T>C (p.Phe1480Leu)
n.9618T>C
n.3083T>C
c.5278T>C (p.Phe1760Leu)
c.5362T>C (p.Phe1788Leu)
c.5410T>C (p.Phe1804Leu)
c.4384T>C (p.Phe1462Leu)
c.3965T>C
c.3526T>C (p.Phe1176Leu)
c.*1343T>C (n.*1343T>C)
c.4679T>C
c.5452T>C (p.Phe1818Leu)
c.5449T>C (p.Phe1817Leu)
c.5404T>C (p.Phe1802Leu)
c.4528T>C (p.Phe1510Leu)
c.4297T>C (p.Phe1433Leu)
10g.94298621T>GCA377642179PLCE1c.4486T>G (p.Phe1496Val)
c.*1953T>G (n.*1953T>G)
n.2145T>G
n.829T>G
c.*694T>G (n.*694T>G)
c.4438T>G (p.Phe1480Val)
n.9618T>G
n.3083T>G
c.5278T>G (p.Phe1760Val)
c.5362T>G (p.Phe1788Val)
c.5410T>G (p.Phe1804Val)
c.4384T>G (p.Phe1462Val)
c.3965T>G
c.3526T>G (p.Phe1176Val)
c.*1343T>G (n.*1343T>G)
c.4679T>G
c.5452T>G (p.Phe1818Val)
c.5449T>G (p.Phe1817Val)
c.5404T>G (p.Phe1802Val)
c.4528T>G (p.Phe1510Val)
c.4297T>G (p.Phe1433Val)
gnomAD v4
10g.94298621T=CA1928998460PLCE1c.4486T= (p.Phe1496=)
c.*1953T= (n.*1953T=)
n.2145T=
n.829T=
c.*694T= (n.*694T=)
c.4438T= (p.Phe1480=)
n.9618T=
n.3083T=
c.5278T= (p.Phe1760=)
c.5362T= (p.Phe1788=)
c.5410T= (p.Phe1804=)
c.4384T= (p.Phe1462=)
c.3965T=
c.3526T= (p.Phe1176=)
c.*1343T= (n.*1343T=)
c.4679T=
c.5452T= (p.Phe1818=)
c.5449T= (p.Phe1817=)
c.5404T= (p.Phe1802=)
c.4528T= (p.Phe1510=)
c.4297T= (p.Phe1433=)
10g.94298621_94298622delCA2573332764PLCE1c.4486_4487del (p.Phe1496LeufsTer15)
c.*1953_*1954del (n.*1953_*1954del)
n.2145_2146del
n.829_830del
c.*694_*695del (n.*694_*695del)
c.4438_4439del (p.Phe1480LeufsTer15)
n.9618_9619del
n.3083_3084del
c.5278_5279del (p.Phe1760LeufsTer15)
c.5362_5363del (p.Phe1788LeufsTer15)
c.5410_5411del (p.Phe1804LeufsTer15)
c.4384_4385del (p.Phe1462LeufsTer15)
c.3965_3966del
c.3526_3527del (p.Phe1176LeufsTer15)
c.*1343_*1344del (n.*1343_*1344del)
c.4679_4680del
c.5452_5453del (p.Phe1818LeufsTer15)
c.5449_5450del (p.Phe1817LeufsTer15)
c.5404_5405del (p.Phe1802LeufsTer15)
c.4528_4529del (p.Phe1510LeufsTer15)
c.4297_4298del (p.Phe1433LeufsTer15)
10g.94298622T>ACA377642182PLCE1c.4487T>A (p.Phe1496Tyr)
c.*1954T>A (n.*1954T>A)
n.2146T>A
n.830T>A
c.*695T>A (n.*695T>A)
c.4439T>A (p.Phe1480Tyr)
n.9619T>A
n.3084T>A
c.5279T>A (p.Phe1760Tyr)
c.5363T>A (p.Phe1788Tyr)
c.5411T>A (p.Phe1804Tyr)
c.4385T>A (p.Phe1462Tyr)
c.3966T>A
c.3527T>A (p.Phe1176Tyr)
c.*1344T>A (n.*1344T>A)
c.4680T>A
c.5453T>A (p.Phe1818Tyr)
c.5450T>A (p.Phe1817Tyr)
c.5405T>A (p.Phe1802Tyr)
c.4529T>A (p.Phe1510Tyr)
c.4298T>A (p.Phe1433Tyr)
10g.94298622T>CCA377642183PLCE1c.4487T>C (p.Phe1496Ser)
c.*1954T>C (n.*1954T>C)
n.2146T>C
n.830T>C
c.*695T>C (n.*695T>C)
c.4439T>C (p.Phe1480Ser)
n.9619T>C
n.3084T>C
c.5279T>C (p.Phe1760Ser)
c.5363T>C (p.Phe1788Ser)
c.5411T>C (p.Phe1804Ser)
c.4385T>C (p.Phe1462Ser)
c.3966T>C
c.3527T>C (p.Phe1176Ser)
c.*1344T>C (n.*1344T>C)
c.4680T>C
c.5453T>C (p.Phe1818Ser)
c.5450T>C (p.Phe1817Ser)
c.5405T>C (p.Phe1802Ser)
c.4529T>C (p.Phe1510Ser)
c.4298T>C (p.Phe1433Ser)
10g.94298622T>GCA377642185PLCE1c.4487T>G (p.Phe1496Cys)
c.*1954T>G (n.*1954T>G)
n.2146T>G
n.830T>G
c.*695T>G (n.*695T>G)
c.4439T>G (p.Phe1480Cys)
n.9619T>G
n.3084T>G
c.5279T>G (p.Phe1760Cys)
c.5363T>G (p.Phe1788Cys)
c.5411T>G (p.Phe1804Cys)
c.4385T>G (p.Phe1462Cys)
c.3966T>G
c.3527T>G (p.Phe1176Cys)
c.*1344T>G (n.*1344T>G)
c.4680T>G
c.5453T>G (p.Phe1818Cys)
c.5450T>G (p.Phe1817Cys)
c.5405T>G (p.Phe1802Cys)
c.4529T>G (p.Phe1510Cys)
c.4298T>G (p.Phe1433Cys)
10g.94298623C>ACA377642187PLCE1c.4488C>A (p.Phe1496Leu)
c.*1955C>A (n.*1955C>A)
n.2147C>A
n.831C>A
c.*696C>A (n.*696C>A)
c.4440C>A (p.Phe1480Leu)
n.9620C>A
n.3085C>A
c.5280C>A (p.Phe1760Leu)
c.5364C>A (p.Phe1788Leu)
c.5412C>A (p.Phe1804Leu)
c.4386C>A (p.Phe1462Leu)
c.3967C>A
c.3528C>A (p.Phe1176Leu)
c.*1345C>A (n.*1345C>A)
c.4681C>A
c.5454C>A (p.Phe1818Leu)
c.5451C>A (p.Phe1817Leu)
c.5406C>A (p.Phe1802Leu)
c.4530C>A (p.Phe1510Leu)
c.4299C>A (p.Phe1433Leu)
10g.94298623C>GCA377642188PLCE1c.4488C>G (p.Phe1496Leu)
c.*1955C>G (n.*1955C>G)
n.2147C>G
n.831C>G
c.*696C>G (n.*696C>G)
c.4440C>G (p.Phe1480Leu)
n.9620C>G
n.3085C>G
c.5280C>G (p.Phe1760Leu)
c.5364C>G (p.Phe1788Leu)
c.5412C>G (p.Phe1804Leu)
c.4386C>G (p.Phe1462Leu)
c.3967C>G
c.3528C>G (p.Phe1176Leu)
c.*1345C>G (n.*1345C>G)
c.4681C>G
c.5454C>G (p.Phe1818Leu)
c.5451C>G (p.Phe1817Leu)
c.5406C>G (p.Phe1802Leu)
c.4530C>G (p.Phe1510Leu)
c.4299C>G (p.Phe1433Leu)
10g.94298623C>TCA470986626PLCE1c.4488C>T (p.Phe1496=)
c.*1955C>T (n.*1955C>T)
n.2147C>T
n.831C>T
c.*696C>T (n.*696C>T)
c.4440C>T (p.Phe1480=)
n.9620C>T
n.3085C>T
c.5280C>T (p.Phe1760=)
c.5364C>T (p.Phe1788=)
c.5412C>T (p.Phe1804=)
c.4386C>T (p.Phe1462=)
c.3967C>T
c.3528C>T (p.Phe1176=)
c.*1345C>T (n.*1345C>T)
c.4681C>T
c.5454C>T (p.Phe1818=)
c.5451C>T (p.Phe1817=)
c.5406C>T (p.Phe1802=)
c.4530C>T (p.Phe1510=)
c.4299C>T (p.Phe1433=)
10g.94298624T>ACA377642190PLCE1c.4489T>A (p.Trp1497Arg)
c.*1956T>A (n.*1956T>A)
n.2148T>A
n.832T>A
c.*697T>A (n.*697T>A)
c.4441T>A (p.Trp1481Arg)
n.9621T>A
n.3086T>A
c.5281T>A (p.Trp1761Arg)
c.5365T>A (p.Trp1789Arg)
c.5413T>A (p.Trp1805Arg)
c.4387T>A (p.Trp1463Arg)
c.3968T>A
c.3529T>A (p.Trp1177Arg)
c.*1346T>A (n.*1346T>A)
c.4682T>A
c.5455T>A (p.Trp1819Arg)
c.5452T>A (p.Trp1818Arg)
c.5407T>A (p.Trp1803Arg)
c.4531T>A (p.Trp1511Arg)
c.4300T>A (p.Trp1434Arg)
10g.94298624T>CCA211599821PLCE1c.4489T>C (p.Trp1497Arg)
c.*1956T>C (n.*1956T>C)
n.2148T>C
n.832T>C
c.*697T>C (n.*697T>C)
c.4441T>C (p.Trp1481Arg)
n.9621T>C
n.3086T>C
c.5281T>C (p.Trp1761Arg)
c.5365T>C (p.Trp1789Arg)
c.5413T>C (p.Trp1805Arg)
c.4387T>C (p.Trp1463Arg)
c.3968T>C
c.3529T>C (p.Trp1177Arg)
c.*1346T>C (n.*1346T>C)
c.4682T>C
c.5455T>C (p.Trp1819Arg)
c.5452T>C (p.Trp1818Arg)
c.5407T>C (p.Trp1803Arg)
c.4531T>C (p.Trp1511Arg)
c.4300T>C (p.Trp1434Arg)
dbSNP gnomAD v3 gnomAD v4
10g.94298624T>GCA377642193PLCE1c.4489T>G (p.Trp1497Gly)
c.*1956T>G (n.*1956T>G)
n.2148T>G
n.832T>G
c.*697T>G (n.*697T>G)
c.4441T>G (p.Trp1481Gly)
n.9621T>G
n.3086T>G
c.5281T>G (p.Trp1761Gly)
c.5365T>G (p.Trp1789Gly)
c.5413T>G (p.Trp1805Gly)
c.4387T>G (p.Trp1463Gly)
c.3968T>G
c.3529T>G (p.Trp1177Gly)
c.*1346T>G (n.*1346T>G)
c.4682T>G
c.5455T>G (p.Trp1819Gly)
c.5452T>G (p.Trp1818Gly)
c.5407T>G (p.Trp1803Gly)
c.4531T>G (p.Trp1511Gly)
c.4300T>G (p.Trp1434Gly)
10g.94298624T=CA1928998461PLCE1c.4489T= (p.Trp1497=)
c.*1956T= (n.*1956T=)
n.2148T=
n.832T=
c.*697T= (n.*697T=)
c.4441T= (p.Trp1481=)
n.9621T=
n.3086T=
c.5281T= (p.Trp1761=)
c.5365T= (p.Trp1789=)
c.5413T= (p.Trp1805=)
c.4387T= (p.Trp1463=)
c.3968T=
c.3529T= (p.Trp1177=)
c.*1346T= (n.*1346T=)
c.4682T=
c.5455T= (p.Trp1819=)
c.5452T= (p.Trp1818=)
c.5407T= (p.Trp1803=)
c.4531T= (p.Trp1511=)
c.4300T= (p.Trp1434=)
10g.94298625G>ACA377642199PLCE1c.4490G>A (p.Trp1497Ter)
c.*1957G>A (n.*1957G>A)
n.2149G>A
n.833G>A
c.*698G>A (n.*698G>A)
c.4442G>A (p.Trp1481Ter)
n.9622G>A
n.3087G>A
c.5282G>A (p.Trp1761Ter)
c.5366G>A (p.Trp1789Ter)
c.5414G>A (p.Trp1805Ter)
c.4388G>A (p.Trp1463Ter)
c.3969G>A
c.3530G>A (p.Trp1177Ter)
c.*1347G>A (n.*1347G>A)
c.4683G>A
c.5456G>A (p.Trp1819Ter)
c.5453G>A (p.Trp1818Ter)
c.5408G>A (p.Trp1803Ter)
c.4532G>A (p.Trp1511Ter)
c.4301G>A (p.Trp1434Ter)
10g.94298625G>CCA377642196PLCE1c.4490G>C (p.Trp1497Ser)
c.*1957G>C (n.*1957G>C)
n.2149G>C
n.833G>C
c.*698G>C (n.*698G>C)
c.4442G>C (p.Trp1481Ser)
n.9622G>C
n.3087G>C
c.5282G>C (p.Trp1761Ser)
c.5366G>C (p.Trp1789Ser)
c.5414G>C (p.Trp1805Ser)
c.4388G>C (p.Trp1463Ser)
c.3969G>C
c.3530G>C (p.Trp1177Ser)
c.*1347G>C (n.*1347G>C)
c.4683G>C
c.5456G>C (p.Trp1819Ser)
c.5453G>C (p.Trp1818Ser)
c.5408G>C (p.Trp1803Ser)
c.4532G>C (p.Trp1511Ser)
c.4301G>C (p.Trp1434Ser)
10g.94298625G>TCA377642194PLCE1c.4490G>T (p.Trp1497Leu)
c.*1957G>T (n.*1957G>T)
n.2149G>T
n.833G>T
c.*698G>T (n.*698G>T)
c.4442G>T (p.Trp1481Leu)
n.9622G>T
n.3087G>T
c.5282G>T (p.Trp1761Leu)
c.5366G>T (p.Trp1789Leu)
c.5414G>T (p.Trp1805Leu)
c.4388G>T (p.Trp1463Leu)
c.3969G>T
c.3530G>T (p.Trp1177Leu)
c.*1347G>T (n.*1347G>T)
c.4683G>T
c.5456G>T (p.Trp1819Leu)
c.5453G>T (p.Trp1818Leu)
c.5408G>T (p.Trp1803Leu)
c.4532G>T (p.Trp1511Leu)
c.4301G>T (p.Trp1434Leu)
10g.94298626G>ACA377642201PLCE1c.4491G>A (p.Trp1497Ter)
c.*1958G>A (n.*1958G>A)
n.2150G>A
n.834G>A
c.*699G>A (n.*699G>A)
c.4443G>A (p.Trp1481Ter)
n.9623G>A
n.3088G>A
c.5283G>A (p.Trp1761Ter)
c.5367G>A (p.Trp1789Ter)
c.5415G>A (p.Trp1805Ter)
c.4389G>A (p.Trp1463Ter)
c.3970G>A
c.3531G>A (p.Trp1177Ter)
c.*1348G>A (n.*1348G>A)
c.4684G>A
c.5457G>A (p.Trp1819Ter)
c.5454G>A (p.Trp1818Ter)
c.5409G>A (p.Trp1803Ter)
c.4533G>A (p.Trp1511Ter)
c.4302G>A (p.Trp1434Ter)
10g.94298626G>CCA377642205PLCE1c.4491G>C (p.Trp1497Cys)
c.*1958G>C (n.*1958G>C)
n.2150G>C
n.834G>C
c.*699G>C (n.*699G>C)
c.4443G>C (p.Trp1481Cys)
n.9623G>C
n.3088G>C
c.5283G>C (p.Trp1761Cys)
c.5367G>C (p.Trp1789Cys)
c.5415G>C (p.Trp1805Cys)
c.4389G>C (p.Trp1463Cys)
c.3970G>C
c.3531G>C (p.Trp1177Cys)
c.*1348G>C (n.*1348G>C)
c.4684G>C
c.5457G>C (p.Trp1819Cys)
c.5454G>C (p.Trp1818Cys)
c.5409G>C (p.Trp1803Cys)
c.4533G>C (p.Trp1511Cys)
c.4302G>C (p.Trp1434Cys)
10g.94298626G>TCA377642203PLCE1c.4491G>T (p.Trp1497Cys)
c.*1958G>T (n.*1958G>T)
n.2150G>T
n.834G>T
c.*699G>T (n.*699G>T)
c.4443G>T (p.Trp1481Cys)
n.9623G>T
n.3088G>T
c.5283G>T (p.Trp1761Cys)
c.5367G>T (p.Trp1789Cys)
c.5415G>T (p.Trp1805Cys)
c.4389G>T (p.Trp1463Cys)
c.3970G>T
c.3531G>T (p.Trp1177Cys)
c.*1348G>T (n.*1348G>T)
c.4684G>T
c.5457G>T (p.Trp1819Cys)
c.5454G>T (p.Trp1818Cys)
c.5409G>T (p.Trp1803Cys)
c.4533G>T (p.Trp1511Cys)
c.4302G>T (p.Trp1434Cys)
gnomAD v4
10g.94298627C>ACA377642207PLCE1c.4492C>A (p.Leu1498Ile)
c.*1959C>A (n.*1959C>A)
n.2151C>A
n.835C>A
c.*700C>A (n.*700C>A)
c.4444C>A (p.Leu1482Ile)
n.9624C>A
n.3089C>A
c.5284C>A (p.Leu1762Ile)
c.5368C>A (p.Leu1790Ile)
c.5416C>A (p.Leu1806Ile)
c.4390C>A (p.Leu1464Ile)
c.3971C>A
c.3532C>A (p.Leu1178Ile)
c.*1349C>A (n.*1349C>A)
c.4685C>A
c.5458C>A (p.Leu1820Ile)
c.5455C>A (p.Leu1819Ile)
c.5410C>A (p.Leu1804Ile)
c.4534C>A (p.Leu1512Ile)
c.4303C>A (p.Leu1435Ile)
10g.94298627C=CA1928998462PLCE1c.4492C= (p.Leu1498=)
c.*1959C= (n.*1959C=)
n.2151C=
n.835C=
c.*700C= (n.*700C=)
c.4444C= (p.Leu1482=)
n.9624C=
n.3089C=
c.5284C= (p.Leu1762=)
c.5368C= (p.Leu1790=)
c.5416C= (p.Leu1806=)
c.4390C= (p.Leu1464=)
c.3971C=
c.3532C= (p.Leu1178=)
c.*1349C= (n.*1349C=)
c.4685C=
c.5458C= (p.Leu1820=)
c.5455C= (p.Leu1819=)
c.5410C= (p.Leu1804=)
c.4534C= (p.Leu1512=)
c.4303C= (p.Leu1435=)
10g.94298627C>GCA377642209PLCE1c.4492C>G (p.Leu1498Val)
c.*1959C>G (n.*1959C>G)
n.2151C>G
n.835C>G
c.*700C>G (n.*700C>G)
c.4444C>G (p.Leu1482Val)
n.9624C>G
n.3089C>G
c.5284C>G (p.Leu1762Val)
c.5368C>G (p.Leu1790Val)
c.5416C>G (p.Leu1806Val)
c.4390C>G (p.Leu1464Val)
c.3971C>G
c.3532C>G (p.Leu1178Val)
c.*1349C>G (n.*1349C>G)
c.4685C>G
c.5458C>G (p.Leu1820Val)
c.5455C>G (p.Leu1819Val)
c.5410C>G (p.Leu1804Val)
c.4534C>G (p.Leu1512Val)
c.4303C>G (p.Leu1435Val)
dbSNP
10g.94298627C>TCA211599825PLCE1c.4492C>T (p.Leu1498Phe)
c.*1959C>T (n.*1959C>T)
n.2151C>T
n.835C>T
c.*700C>T (n.*700C>T)
c.4444C>T (p.Leu1482Phe)
n.9624C>T
n.3089C>T
c.5284C>T (p.Leu1762Phe)
c.5368C>T (p.Leu1790Phe)
c.5416C>T (p.Leu1806Phe)
c.4390C>T (p.Leu1464Phe)
c.3971C>T
c.3532C>T (p.Leu1178Phe)
c.*1349C>T (n.*1349C>T)
c.4685C>T
c.5458C>T (p.Leu1820Phe)
c.5455C>T (p.Leu1819Phe)
c.5410C>T (p.Leu1804Phe)
c.4534C>T (p.Leu1512Phe)
c.4303C>T (p.Leu1435Phe)
dbSNP gnomAD v2 gnomAD v4
10g.94298628T>ACA377642212PLCE1c.4493T>A (p.Leu1498His)
c.*1960T>A (n.*1960T>A)
n.2152T>A
n.836T>A
c.*701T>A (n.*701T>A)
c.4445T>A (p.Leu1482His)
n.9625T>A
n.3090T>A
c.5285T>A (p.Leu1762His)
c.5369T>A (p.Leu1790His)
c.5417T>A (p.Leu1806His)
c.4391T>A (p.Leu1464His)
c.3972T>A
c.3533T>A (p.Leu1178His)
c.*1350T>A (n.*1350T>A)
c.4686T>A
c.5459T>A (p.Leu1820His)
c.5456T>A (p.Leu1819His)
c.5411T>A (p.Leu1804His)
c.4535T>A (p.Leu1512His)
c.4304T>A (p.Leu1435His)
10g.94298628T>CCA5613353PLCE1c.4493T>C (p.Leu1498Pro)
c.*1960T>C (n.*1960T>C)
n.2152T>C
n.836T>C
c.*701T>C (n.*701T>C)
c.4445T>C (p.Leu1482Pro)
n.9625T>C
n.3090T>C
c.5285T>C (p.Leu1762Pro)
c.5369T>C (p.Leu1790Pro)
c.5417T>C (p.Leu1806Pro)
c.4391T>C (p.Leu1464Pro)
c.3972T>C
c.3533T>C (p.Leu1178Pro)
c.*1350T>C (n.*1350T>C)
c.4686T>C
c.5459T>C (p.Leu1820Pro)
c.5456T>C (p.Leu1819Pro)
c.5411T>C (p.Leu1804Pro)
c.4535T>C (p.Leu1512Pro)
c.4304T>C (p.Leu1435Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298628T>GCA377642213PLCE1c.4493T>G (p.Leu1498Arg)
c.*1960T>G (n.*1960T>G)
n.2152T>G
n.836T>G
c.*701T>G (n.*701T>G)
c.4445T>G (p.Leu1482Arg)
n.9625T>G
n.3090T>G
c.5285T>G (p.Leu1762Arg)
c.5369T>G (p.Leu1790Arg)
c.5417T>G (p.Leu1806Arg)
c.4391T>G (p.Leu1464Arg)
c.3972T>G
c.3533T>G (p.Leu1178Arg)
c.*1350T>G (n.*1350T>G)
c.4686T>G
c.5459T>G (p.Leu1820Arg)
c.5456T>G (p.Leu1819Arg)
c.5411T>G (p.Leu1804Arg)
c.4535T>G (p.Leu1512Arg)
c.4304T>G (p.Leu1435Arg)
10g.94298628T=CA1928998463PLCE1c.4493T= (p.Leu1498=)
c.*1960T= (n.*1960T=)
n.2152T=
n.836T=
c.*701T= (n.*701T=)
c.4445T= (p.Leu1482=)
n.9625T=
n.3090T=
c.5285T= (p.Leu1762=)
c.5369T= (p.Leu1790=)
c.5417T= (p.Leu1806=)
c.4391T= (p.Leu1464=)
c.3972T=
c.3533T= (p.Leu1178=)
c.*1350T= (n.*1350T=)
c.4686T=
c.5459T= (p.Leu1820=)
c.5456T= (p.Leu1819=)
c.5411T= (p.Leu1804=)
c.4535T= (p.Leu1512=)
c.4304T= (p.Leu1435=)
10g.94298629C>ACA470986627PLCE1c.4494C>A (p.Leu1498=)
c.*1961C>A (n.*1961C>A)
n.2153C>A
n.837C>A
c.*702C>A (n.*702C>A)
c.4446C>A (p.Leu1482=)
n.9626C>A
n.3091C>A
c.5286C>A (p.Leu1762=)
c.5370C>A (p.Leu1790=)
c.5418C>A (p.Leu1806=)
c.4392C>A (p.Leu1464=)
c.3973C>A
c.3534C>A (p.Leu1178=)
c.*1351C>A (n.*1351C>A)
c.4687C>A
c.5460C>A (p.Leu1820=)
c.5457C>A (p.Leu1819=)
c.5412C>A (p.Leu1804=)
c.4536C>A (p.Leu1512=)
c.4305C>A (p.Leu1435=)
10g.94298629C>GCA470986628PLCE1c.4494C>G (p.Leu1498=)
c.*1961C>G (n.*1961C>G)
n.2153C>G
n.837C>G
c.*702C>G (n.*702C>G)
c.4446C>G (p.Leu1482=)
n.9626C>G
n.3091C>G
c.5286C>G (p.Leu1762=)
c.5370C>G (p.Leu1790=)
c.5418C>G (p.Leu1806=)
c.4392C>G (p.Leu1464=)
c.3973C>G
c.3534C>G (p.Leu1178=)
c.*1351C>G (n.*1351C>G)
c.4687C>G
c.5460C>G (p.Leu1820=)
c.5457C>G (p.Leu1819=)
c.5412C>G (p.Leu1804=)
c.4536C>G (p.Leu1512=)
c.4305C>G (p.Leu1435=)
10g.94298629C>TCA470986629PLCE1c.4494C>T (p.Leu1498=)
c.*1961C>T (n.*1961C>T)
n.2153C>T
n.837C>T
c.*702C>T (n.*702C>T)
c.4446C>T (p.Leu1482=)
n.9626C>T
n.3091C>T
c.5286C>T (p.Leu1762=)
c.5370C>T (p.Leu1790=)
c.5418C>T (p.Leu1806=)
c.4392C>T (p.Leu1464=)
c.3973C>T
c.3534C>T (p.Leu1178=)
c.*1351C>T (n.*1351C>T)
c.4687C>T
c.5460C>T (p.Leu1820=)
c.5457C>T (p.Leu1819=)
c.5412C>T (p.Leu1804=)
c.4536C>T (p.Leu1512=)
c.4305C>T (p.Leu1435=)
10g.94298630C>ACA377642214PLCE1c.4495C>A (p.His1499Asn)
c.*1962C>A (n.*1962C>A)
n.2154C>A
n.838C>A
c.*703C>A (n.*703C>A)
c.4447C>A (p.His1483Asn)
n.9627C>A
n.3092C>A
c.5287C>A (p.His1763Asn)
c.5371C>A (p.His1791Asn)
c.5419C>A (p.His1807Asn)
c.4393C>A (p.His1465Asn)
c.3974C>A
c.3535C>A (p.His1179Asn)
c.*1352C>A (n.*1352C>A)
c.4688C>A
c.5461C>A (p.His1821Asn)
c.5458C>A (p.His1820Asn)
c.5413C>A (p.His1805Asn)
c.4537C>A (p.His1513Asn)
c.4306C>A (p.His1436Asn)
10g.94298630C=CA1928998464PLCE1c.4495C= (p.His1499=)
c.*1962C= (n.*1962C=)
n.2154C=
n.838C=
c.*703C= (n.*703C=)
c.4447C= (p.His1483=)
n.9627C=
n.3092C=
c.5287C= (p.His1763=)
c.5371C= (p.His1791=)
c.5419C= (p.His1807=)
c.4393C= (p.His1465=)
c.3974C=
c.3535C= (p.His1179=)
c.*1352C= (n.*1352C=)
c.4688C=
c.5461C= (p.His1821=)
c.5458C= (p.His1820=)
c.5413C= (p.His1805=)
c.4537C= (p.His1513=)
c.4306C= (p.His1436=)
10g.94298630C>GCA377642216PLCE1c.4495C>G (p.His1499Asp)
c.*1962C>G (n.*1962C>G)
n.2154C>G
n.838C>G
c.*703C>G (n.*703C>G)
c.4447C>G (p.His1483Asp)
n.9627C>G
n.3092C>G
c.5287C>G (p.His1763Asp)
c.5371C>G (p.His1791Asp)
c.5419C>G (p.His1807Asp)
c.4393C>G (p.His1465Asp)
c.3974C>G
c.3535C>G (p.His1179Asp)
c.*1352C>G (n.*1352C>G)
c.4688C>G
c.5461C>G (p.His1821Asp)
c.5458C>G (p.His1820Asp)
c.5413C>G (p.His1805Asp)
c.4537C>G (p.His1513Asp)
c.4306C>G (p.His1436Asp)
10g.94298630C>TCA377642218PLCE1c.4495C>T (p.His1499Tyr)
c.*1962C>T (n.*1962C>T)
n.2154C>T
n.838C>T
c.*703C>T (n.*703C>T)
c.4447C>T (p.His1483Tyr)
n.9627C>T
n.3092C>T
c.5287C>T (p.His1763Tyr)
c.5371C>T (p.His1791Tyr)
c.5419C>T (p.His1807Tyr)
c.4393C>T (p.His1465Tyr)
c.3974C>T
c.3535C>T (p.His1179Tyr)
c.*1352C>T (n.*1352C>T)
c.4688C>T
c.5461C>T (p.His1821Tyr)
c.5458C>T (p.His1820Tyr)
c.5413C>T (p.His1805Tyr)
c.4537C>T (p.His1513Tyr)
c.4306C>T (p.His1436Tyr)
dbSNP gnomAD v2 gnomAD v4
10g.94298631A>CCA377642221PLCE1c.4496A>C (p.His1499Pro)
c.*1963A>C (n.*1963A>C)
n.2155A>C
n.839A>C
c.*704A>C (n.*704A>C)
c.4448A>C (p.His1483Pro)
n.9628A>C
n.3093A>C
c.5288A>C (p.His1763Pro)
c.5372A>C (p.His1791Pro)
c.5420A>C (p.His1807Pro)
c.4394A>C (p.His1465Pro)
c.3975A>C
c.3536A>C (p.His1179Pro)
c.*1353A>C (n.*1353A>C)
c.4689A>C
c.5462A>C (p.His1821Pro)
c.5459A>C (p.His1820Pro)
c.5414A>C (p.His1805Pro)
c.4538A>C (p.His1513Pro)
c.4307A>C (p.His1436Pro)
10g.94298631A>GCA377642222PLCE1c.4496A>G (p.His1499Arg)
c.*1963A>G (n.*1963A>G)
n.2155A>G
n.839A>G
c.*704A>G (n.*704A>G)
c.4448A>G (p.His1483Arg)
n.9628A>G
n.3093A>G
c.5288A>G (p.His1763Arg)
c.5372A>G (p.His1791Arg)
c.5420A>G (p.His1807Arg)
c.4394A>G (p.His1465Arg)
c.3975A>G
c.3536A>G (p.His1179Arg)
c.*1353A>G (n.*1353A>G)
c.4689A>G
c.5462A>G (p.His1821Arg)
c.5459A>G (p.His1820Arg)
c.5414A>G (p.His1805Arg)
c.4538A>G (p.His1513Arg)
c.4307A>G (p.His1436Arg)
10g.94298631A>TCA377642224PLCE1c.4496A>T (p.His1499Leu)
c.*1963A>T (n.*1963A>T)
n.2155A>T
n.839A>T
c.*704A>T (n.*704A>T)
c.4448A>T (p.His1483Leu)
n.9628A>T
n.3093A>T
c.5288A>T (p.His1763Leu)
c.5372A>T (p.His1791Leu)
c.5420A>T (p.His1807Leu)
c.4394A>T (p.His1465Leu)
c.3975A>T
c.3536A>T (p.His1179Leu)
c.*1353A>T (n.*1353A>T)
c.4689A>T
c.5462A>T (p.His1821Leu)
c.5459A>T (p.His1820Leu)
c.5414A>T (p.His1805Leu)
c.4538A>T (p.His1513Leu)
c.4307A>T (p.His1436Leu)
10g.94298632T>ACA377642227PLCE1c.4497T>A (p.His1499Gln)
c.*1964T>A (n.*1964T>A)
n.2156T>A
n.840T>A
c.*705T>A (n.*705T>A)
c.4449T>A (p.His1483Gln)
n.9629T>A
n.3094T>A
c.5289T>A (p.His1763Gln)
c.5373T>A (p.His1791Gln)
c.5421T>A (p.His1807Gln)
c.4395T>A (p.His1465Gln)
c.3976T>A
c.3537T>A (p.His1179Gln)
c.*1354T>A (n.*1354T>A)
c.4690T>A
c.5463T>A (p.His1821Gln)
c.5460T>A (p.His1820Gln)
c.5415T>A (p.His1805Gln)
c.4539T>A (p.His1513Gln)
c.4308T>A (p.His1436Gln)
10g.94298632T>CCA470986630PLCE1c.4497T>C (p.His1499=)
c.*1964T>C (n.*1964T>C)
n.2156T>C
n.840T>C
c.*705T>C (n.*705T>C)
c.4449T>C (p.His1483=)
n.9629T>C
n.3094T>C
c.5289T>C (p.His1763=)
c.5373T>C (p.His1791=)
c.5421T>C (p.His1807=)
c.4395T>C (p.His1465=)
c.3976T>C
c.3537T>C (p.His1179=)
c.*1354T>C (n.*1354T>C)
c.4690T>C
c.5463T>C (p.His1821=)
c.5460T>C (p.His1820=)
c.5415T>C (p.His1805=)
c.4539T>C (p.His1513=)
c.4308T>C (p.His1436=)
10g.94298632T>GCA377642225PLCE1c.4497T>G (p.His1499Gln)
c.*1964T>G (n.*1964T>G)
n.2156T>G
n.840T>G
c.*705T>G (n.*705T>G)
c.4449T>G (p.His1483Gln)
n.9629T>G
n.3094T>G
c.5289T>G (p.His1763Gln)
c.5373T>G (p.His1791Gln)
c.5421T>G (p.His1807Gln)
c.4395T>G (p.His1465Gln)
c.3976T>G
c.3537T>G (p.His1179Gln)
c.*1354T>G (n.*1354T>G)
c.4690T>G
c.5463T>G (p.His1821Gln)
c.5460T>G (p.His1820Gln)
c.5415T>G (p.His1805Gln)
c.4539T>G (p.His1513Gln)
c.4308T>G (p.His1436Gln)
10g.94298633G>ACA377642229PLCE1c.4498G>A (p.Gly1500Arg)
c.*1965G>A (n.*1965G>A)
n.2157G>A
n.841G>A
c.*706G>A (n.*706G>A)
c.4450G>A (p.Gly1484Arg)
n.9630G>A
n.3095G>A
c.5290G>A (p.Gly1764Arg)
c.5374G>A (p.Gly1792Arg)
c.5422G>A (p.Gly1808Arg)
c.4396G>A (p.Gly1466Arg)
c.3977G>A
c.3538G>A (p.Gly1180Arg)
c.*1355G>A (n.*1355G>A)
c.4691G>A
c.5464G>A (p.Gly1822Arg)
c.5461G>A (p.Gly1821Arg)
c.5416G>A (p.Gly1806Arg)
c.4540G>A (p.Gly1514Arg)
c.4309G>A (p.Gly1437Arg)
10g.94298633G>CCA377642231PLCE1c.4498G>C (p.Gly1500Arg)
c.*1965G>C (n.*1965G>C)
n.2157G>C
n.841G>C
c.*706G>C (n.*706G>C)
c.4450G>C (p.Gly1484Arg)
n.9630G>C
n.3095G>C
c.5290G>C (p.Gly1764Arg)
c.5374G>C (p.Gly1792Arg)
c.5422G>C (p.Gly1808Arg)
c.4396G>C (p.Gly1466Arg)
c.3977G>C
c.3538G>C (p.Gly1180Arg)
c.*1355G>C (n.*1355G>C)
c.4691G>C
c.5464G>C (p.Gly1822Arg)
c.5461G>C (p.Gly1821Arg)
c.5416G>C (p.Gly1806Arg)
c.4540G>C (p.Gly1514Arg)
c.4309G>C (p.Gly1437Arg)
10g.94298633G=CA1928998465PLCE1c.4498G= (p.Gly1500=)
c.*1965G= (n.*1965G=)
n.2157G=
n.841G=
c.*706G= (n.*706G=)
c.4450G= (p.Gly1484=)
n.9630G=
n.3095G=
c.5290G= (p.Gly1764=)
c.5374G= (p.Gly1792=)
c.5422G= (p.Gly1808=)
c.4396G= (p.Gly1466=)
c.3977G=
c.3538G= (p.Gly1180=)
c.*1355G= (n.*1355G=)
c.4691G=
c.5464G= (p.Gly1822=)
c.5461G= (p.Gly1821=)
c.5416G= (p.Gly1806=)
c.4540G= (p.Gly1514=)
c.4309G= (p.Gly1437=)
10g.94298633G>TCA377642233PLCE1c.4498G>T (p.Gly1500Trp)
c.*1965G>T (n.*1965G>T)
n.2157G>T
n.841G>T
c.*706G>T (n.*706G>T)
c.4450G>T (p.Gly1484Trp)
n.9630G>T
n.3095G>T
c.5290G>T (p.Gly1764Trp)
c.5374G>T (p.Gly1792Trp)
c.5422G>T (p.Gly1808Trp)
c.4396G>T (p.Gly1466Trp)
c.3977G>T
c.3538G>T (p.Gly1180Trp)
c.*1355G>T (n.*1355G>T)
c.4691G>T
c.5464G>T (p.Gly1822Trp)
c.5461G>T (p.Gly1821Trp)
c.5416G>T (p.Gly1806Trp)
c.4540G>T (p.Gly1514Trp)
c.4309G>T (p.Gly1437Trp)
dbSNP gnomAD v2 gnomAD v4
10g.94298634G>ACA377642236PLCE1c.4499G>A (p.Gly1500Glu)
c.*1966G>A (n.*1966G>A)
n.2158G>A
n.842G>A
c.*707G>A (n.*707G>A)
c.4451G>A (p.Gly1484Glu)
n.9631G>A
n.3096G>A
c.5291G>A (p.Gly1764Glu)
c.5375G>A (p.Gly1792Glu)
c.5423G>A (p.Gly1808Glu)
c.4397G>A (p.Gly1466Glu)
c.3978G>A
c.3539G>A (p.Gly1180Glu)
c.*1356G>A (n.*1356G>A)
c.4692G>A
c.5465G>A (p.Gly1822Glu)
c.5462G>A (p.Gly1821Glu)
c.5417G>A (p.Gly1806Glu)
c.4541G>A (p.Gly1514Glu)
c.4310G>A (p.Gly1437Glu)
10g.94298634G>CCA377642237PLCE1c.4499G>C (p.Gly1500Ala)
c.*1966G>C (n.*1966G>C)
n.2158G>C
n.842G>C
c.*707G>C (n.*707G>C)
c.4451G>C (p.Gly1484Ala)
n.9631G>C
n.3096G>C
c.5291G>C (p.Gly1764Ala)
c.5375G>C (p.Gly1792Ala)
c.5423G>C (p.Gly1808Ala)
c.4397G>C (p.Gly1466Ala)
c.3978G>C
c.3539G>C (p.Gly1180Ala)
c.*1356G>C (n.*1356G>C)
c.4692G>C
c.5465G>C (p.Gly1822Ala)
c.5462G>C (p.Gly1821Ala)
c.5417G>C (p.Gly1806Ala)
c.4541G>C (p.Gly1514Ala)
c.4310G>C (p.Gly1437Ala)
10g.94298634G>TCA377642239PLCE1c.4499G>T (p.Gly1500Val)
c.*1966G>T (n.*1966G>T)
n.2158G>T
n.842G>T
c.*707G>T (n.*707G>T)
c.4451G>T (p.Gly1484Val)
n.9631G>T
n.3096G>T
c.5291G>T (p.Gly1764Val)
c.5375G>T (p.Gly1792Val)
c.5423G>T (p.Gly1808Val)
c.4397G>T (p.Gly1466Val)
c.3978G>T
c.3539G>T (p.Gly1180Val)
c.*1356G>T (n.*1356G>T)
c.4692G>T
c.5465G>T (p.Gly1822Val)
c.5462G>T (p.Gly1821Val)
c.5417G>T (p.Gly1806Val)
c.4541G>T (p.Gly1514Val)
c.4310G>T (p.Gly1437Val)
10g.94298635G>ACA470986631PLCE1c.4500G>A (p.Gly1500=)
c.*1967G>A (n.*1967G>A)
n.2159G>A
n.843G>A
c.*708G>A (n.*708G>A)
c.4452G>A (p.Gly1484=)
n.9632G>A
n.3097G>A
c.5292G>A (p.Gly1764=)
c.5376G>A (p.Gly1792=)
c.5424G>A (p.Gly1808=)
c.4398G>A (p.Gly1466=)
c.3979G>A
c.3540G>A (p.Gly1180=)
c.*1357G>A (n.*1357G>A)
c.4693G>A
c.5466G>A (p.Gly1822=)
c.5463G>A (p.Gly1821=)
c.5418G>A (p.Gly1806=)
c.4542G>A (p.Gly1514=)
c.4311G>A (p.Gly1437=)
gnomAD v4
10g.94298635G>CCA5613354PLCE1c.4500G>C (p.Gly1500=)
c.*1967G>C (n.*1967G>C)
n.2159G>C
n.843G>C
c.*708G>C (n.*708G>C)
c.4452G>C (p.Gly1484=)
n.9632G>C
n.3097G>C
c.5292G>C (p.Gly1764=)
c.5376G>C (p.Gly1792=)
c.5424G>C (p.Gly1808=)
c.4398G>C (p.Gly1466=)
c.3979G>C
c.3540G>C (p.Gly1180=)
c.*1357G>C (n.*1357G>C)
c.4693G>C
c.5466G>C (p.Gly1822=)
c.5463G>C (p.Gly1821=)
c.5418G>C (p.Gly1806=)
c.4542G>C (p.Gly1514=)
c.4311G>C (p.Gly1437=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298635G=CA1928998466PLCE1c.4500G= (p.Gly1500=)
c.*1967G= (n.*1967G=)
n.2159G=
n.843G=
c.*708G= (n.*708G=)
c.4452G= (p.Gly1484=)
n.9632G=
n.3097G=
c.5292G= (p.Gly1764=)
c.5376G= (p.Gly1792=)
c.5424G= (p.Gly1808=)
c.4398G= (p.Gly1466=)
c.3979G=
c.3540G= (p.Gly1180=)
c.*1357G= (n.*1357G=)
c.4693G=
c.5466G= (p.Gly1822=)
c.5463G= (p.Gly1821=)
c.5418G= (p.Gly1806=)
c.4542G= (p.Gly1514=)
c.4311G= (p.Gly1437=)
10g.94298635G>TCA470986632PLCE1c.4500G>T (p.Gly1500=)
c.*1967G>T (n.*1967G>T)
n.2159G>T
n.843G>T
c.*708G>T (n.*708G>T)
c.4452G>T (p.Gly1484=)
n.9632G>T
n.3097G>T
c.5292G>T (p.Gly1764=)
c.5376G>T (p.Gly1792=)
c.5424G>T (p.Gly1808=)
c.4398G>T (p.Gly1466=)
c.3979G>T
c.3540G>T (p.Gly1180=)
c.*1357G>T (n.*1357G>T)
c.4693G>T
c.5466G>T (p.Gly1822=)
c.5463G>T (p.Gly1821=)
c.5418G>T (p.Gly1806=)
c.4542G>T (p.Gly1514=)
c.4311G>T (p.Gly1437=)
10g.94298636A>CCA377642242PLCE1c.4501A>C (p.Ile1501Leu)
c.*1968A>C (n.*1968A>C)
n.2160A>C
n.844A>C
c.*709A>C (n.*709A>C)
c.4453A>C (p.Ile1485Leu)
n.9633A>C
n.3098A>C
c.5293A>C (p.Ile1765Leu)
c.5377A>C (p.Ile1793Leu)
c.5425A>C (p.Ile1809Leu)
c.4399A>C (p.Ile1467Leu)
c.3980A>C
c.3541A>C (p.Ile1181Leu)
c.*1358A>C (n.*1358A>C)
c.4694A>C
c.5467A>C (p.Ile1823Leu)
c.5464A>C (p.Ile1822Leu)
c.5419A>C (p.Ile1807Leu)
c.4543A>C (p.Ile1515Leu)
c.4312A>C (p.Ile1438Leu)
10g.94298636A>GCA377642246PLCE1c.4501A>G (p.Ile1501Val)
c.*1968A>G (n.*1968A>G)
n.2160A>G
n.844A>G
c.*709A>G (n.*709A>G)
c.4453A>G (p.Ile1485Val)
n.9633A>G
n.3098A>G
c.5293A>G (p.Ile1765Val)
c.5377A>G (p.Ile1793Val)
c.5425A>G (p.Ile1809Val)
c.4399A>G (p.Ile1467Val)
c.3980A>G
c.3541A>G (p.Ile1181Val)
c.*1358A>G (n.*1358A>G)
c.4694A>G
c.5467A>G (p.Ile1823Val)
c.5464A>G (p.Ile1822Val)
c.5419A>G (p.Ile1807Val)
c.4543A>G (p.Ile1515Val)
c.4312A>G (p.Ile1438Val)
10g.94298636A>TCA377642244PLCE1c.4501A>T (p.Ile1501Leu)
c.*1968A>T (n.*1968A>T)
n.2160A>T
n.844A>T
c.*709A>T (n.*709A>T)
c.4453A>T (p.Ile1485Leu)
n.9633A>T
n.3098A>T
c.5293A>T (p.Ile1765Leu)
c.5377A>T (p.Ile1793Leu)
c.5425A>T (p.Ile1809Leu)
c.4399A>T (p.Ile1467Leu)
c.3980A>T
c.3541A>T (p.Ile1181Leu)
c.*1358A>T (n.*1358A>T)
c.4694A>T
c.5467A>T (p.Ile1823Leu)
c.5464A>T (p.Ile1822Leu)
c.5419A>T (p.Ile1807Leu)
c.4543A>T (p.Ile1515Leu)
c.4312A>T (p.Ile1438Leu)
10g.94298637_94298640dupCA2610239651PLCE1c.4502_4505dup (p.Gln1502HisfsTer11)
c.*1969_*1972dup (n.*1969_*1972dup)
n.2161_2164dup
n.845_848dup
c.*710_*713dup (n.*710_*713dup)
c.4454_4457dup (p.Gln1486HisfsTer11)
n.9634_9637dup
n.3099_3102dup
c.5294_5297dup (p.Gln1766HisfsTer11)
c.5378_5381dup (p.Gln1794HisfsTer11)
c.5426_5429dup (p.Gln1810HisfsTer11)
c.4400_4403dup (p.Gln1468HisfsTer11)
c.3981_3984dup
c.3542_3545dup (p.Gln1182HisfsTer11)
c.*1359_*1362dup (n.*1359_*1362dup)
c.4695_4698dup
c.5468_5471dup (p.Gln1824HisfsTer11)
c.5465_5468dup (p.Gln1823HisfsTer11)
c.5420_5423dup (p.Gln1808HisfsTer11)
c.4544_4547dup (p.Gln1516HisfsTer11)
c.4313_4316dup (p.Gln1439HisfsTer11)
gnomAD v4
10g.94298637T>ACA377642249PLCE1c.4502T>A (p.Ile1501Lys)
c.*1969T>A (n.*1969T>A)
n.2161T>A
n.845T>A
c.*710T>A (n.*710T>A)
c.4454T>A (p.Ile1485Lys)
n.9634T>A
n.3099T>A
c.5294T>A (p.Ile1765Lys)
c.5378T>A (p.Ile1793Lys)
c.5426T>A (p.Ile1809Lys)
c.4400T>A (p.Ile1467Lys)
c.3981T>A
c.3542T>A (p.Ile1181Lys)
c.*1359T>A (n.*1359T>A)
c.4695T>A
c.5468T>A (p.Ile1823Lys)
c.5465T>A (p.Ile1822Lys)
c.5420T>A (p.Ile1807Lys)
c.4544T>A (p.Ile1515Lys)
c.4313T>A (p.Ile1438Lys)
10g.94298637T>CCA377642251PLCE1c.4502T>C (p.Ile1501Thr)
c.*1969T>C (n.*1969T>C)
n.2161T>C
n.845T>C
c.*710T>C (n.*710T>C)
c.4454T>C (p.Ile1485Thr)
n.9634T>C
n.3099T>C
c.5294T>C (p.Ile1765Thr)
c.5378T>C (p.Ile1793Thr)
c.5426T>C (p.Ile1809Thr)
c.4400T>C (p.Ile1467Thr)
c.3981T>C
c.3542T>C (p.Ile1181Thr)
c.*1359T>C (n.*1359T>C)
c.4695T>C
c.5468T>C (p.Ile1823Thr)
c.5465T>C (p.Ile1822Thr)
c.5420T>C (p.Ile1807Thr)
c.4544T>C (p.Ile1515Thr)
c.4313T>C (p.Ile1438Thr)
10g.94298637T>GCA377642253PLCE1c.4502T>G (p.Ile1501Arg)
c.*1969T>G (n.*1969T>G)
n.2161T>G
n.845T>G
c.*710T>G (n.*710T>G)
c.4454T>G (p.Ile1485Arg)
n.9634T>G
n.3099T>G
c.5294T>G (p.Ile1765Arg)
c.5378T>G (p.Ile1793Arg)
c.5426T>G (p.Ile1809Arg)
c.4400T>G (p.Ile1467Arg)
c.3981T>G
c.3542T>G (p.Ile1181Arg)
c.*1359T>G (n.*1359T>G)
c.4695T>G
c.5468T>G (p.Ile1823Arg)
c.5465T>G (p.Ile1822Arg)
c.5420T>G (p.Ile1807Arg)
c.4544T>G (p.Ile1515Arg)
c.4313T>G (p.Ile1438Arg)
10g.94298638A>CCA470986633PLCE1c.4503A>C (p.Ile1501=)
c.*1970A>C (n.*1970A>C)
n.2162A>C
n.846A>C
c.*711A>C (n.*711A>C)
c.4455A>C (p.Ile1485=)
n.9635A>C
n.3100A>C
c.5295A>C (p.Ile1765=)
c.5379A>C (p.Ile1793=)
c.5427A>C (p.Ile1809=)
c.4401A>C (p.Ile1467=)
c.3982A>C
c.3543A>C (p.Ile1181=)
c.*1360A>C (n.*1360A>C)
c.4696A>C
c.5469A>C (p.Ile1823=)
c.5466A>C (p.Ile1822=)
c.5421A>C (p.Ile1807=)
c.4545A>C (p.Ile1515=)
c.4314A>C (p.Ile1438=)
10g.94298638A>GCA377642255PLCE1c.4503A>G (p.Ile1501Met)
c.*1970A>G (n.*1970A>G)
n.2162A>G
n.846A>G
c.*711A>G (n.*711A>G)
c.4455A>G (p.Ile1485Met)
n.9635A>G
n.3100A>G
c.5295A>G (p.Ile1765Met)
c.5379A>G (p.Ile1793Met)
c.5427A>G (p.Ile1809Met)
c.4401A>G (p.Ile1467Met)
c.3982A>G
c.3543A>G (p.Ile1181Met)
c.*1360A>G (n.*1360A>G)
c.4696A>G
c.5469A>G (p.Ile1823Met)
c.5466A>G (p.Ile1822Met)
c.5421A>G (p.Ile1807Met)
c.4545A>G (p.Ile1515Met)
c.4314A>G (p.Ile1438Met)
10g.94298638A>TCA470986634PLCE1c.4503A>T (p.Ile1501=)
c.*1970A>T (n.*1970A>T)
n.2162A>T
n.846A>T
c.*711A>T (n.*711A>T)
c.4455A>T (p.Ile1485=)
n.9635A>T
n.3100A>T
c.5295A>T (p.Ile1765=)
c.5379A>T (p.Ile1793=)
c.5427A>T (p.Ile1809=)
c.4401A>T (p.Ile1467=)
c.3982A>T
c.3543A>T (p.Ile1181=)
c.*1360A>T (n.*1360A>T)
c.4696A>T
c.5469A>T (p.Ile1823=)
c.5466A>T (p.Ile1822=)
c.5421A>T (p.Ile1807=)
c.4545A>T (p.Ile1515=)
c.4314A>T (p.Ile1438=)
10g.94298639C>ACA377642257PLCE1c.4504C>A (p.Gln1502Lys)
c.*1971C>A (n.*1971C>A)
n.2163C>A
n.847C>A
c.*712C>A (n.*712C>A)
c.4456C>A (p.Gln1486Lys)
n.9636C>A
n.3101C>A
c.5296C>A (p.Gln1766Lys)
c.5380C>A (p.Gln1794Lys)
c.5428C>A (p.Gln1810Lys)
c.4402C>A (p.Gln1468Lys)
c.3983C>A
c.3544C>A (p.Gln1182Lys)
c.*1361C>A (n.*1361C>A)
c.4697C>A
c.5470C>A (p.Gln1824Lys)
c.5467C>A (p.Gln1823Lys)
c.5422C>A (p.Gln1808Lys)
c.4546C>A (p.Gln1516Lys)
c.4315C>A (p.Gln1439Lys)
10g.94298639C>GCA377642259PLCE1c.4504C>G (p.Gln1502Glu)
c.*1971C>G (n.*1971C>G)
n.2163C>G
n.847C>G
c.*712C>G (n.*712C>G)
c.4456C>G (p.Gln1486Glu)
n.9636C>G
n.3101C>G
c.5296C>G (p.Gln1766Glu)
c.5380C>G (p.Gln1794Glu)
c.5428C>G (p.Gln1810Glu)
c.4402C>G (p.Gln1468Glu)
c.3983C>G
c.3544C>G (p.Gln1182Glu)
c.*1361C>G (n.*1361C>G)
c.4697C>G
c.5470C>G (p.Gln1824Glu)
c.5467C>G (p.Gln1823Glu)
c.5422C>G (p.Gln1808Glu)
c.4546C>G (p.Gln1516Glu)
c.4315C>G (p.Gln1439Glu)
10g.94298639C>TCA377642258PLCE1c.4504C>T (p.Gln1502Ter)
c.*1971C>T (n.*1971C>T)
n.2163C>T
n.847C>T
c.*712C>T (n.*712C>T)
c.4456C>T (p.Gln1486Ter)
n.9636C>T
n.3101C>T
c.5296C>T (p.Gln1766Ter)
c.5380C>T (p.Gln1794Ter)
c.5428C>T (p.Gln1810Ter)
c.4402C>T (p.Gln1468Ter)
c.3983C>T
c.3544C>T (p.Gln1182Ter)
c.*1361C>T (n.*1361C>T)
c.4697C>T
c.5470C>T (p.Gln1824Ter)
c.5467C>T (p.Gln1823Ter)
c.5422C>T (p.Gln1808Ter)
c.4546C>T (p.Gln1516Ter)
c.4315C>T (p.Gln1439Ter)
10g.94298640A>CCA377642262PLCE1c.4505A>C (p.Gln1502Pro)
c.*1972A>C (n.*1972A>C)
n.2164A>C
n.848A>C
c.*713A>C (n.*713A>C)
c.4457A>C (p.Gln1486Pro)
n.9637A>C
n.3102A>C
c.5297A>C (p.Gln1766Pro)
c.5381A>C (p.Gln1794Pro)
c.5429A>C (p.Gln1810Pro)
c.4403A>C (p.Gln1468Pro)
c.3984A>C
c.3545A>C (p.Gln1182Pro)
c.*1362A>C (n.*1362A>C)
c.4698A>C
c.5471A>C (p.Gln1824Pro)
c.5468A>C (p.Gln1823Pro)
c.5423A>C (p.Gln1808Pro)
c.4547A>C (p.Gln1516Pro)
c.4316A>C (p.Gln1439Pro)
10g.94298640A>GCA377642264PLCE1c.4505A>G (p.Gln1502Arg)
c.*1972A>G (n.*1972A>G)
n.2164A>G
n.848A>G
c.*713A>G (n.*713A>G)
c.4457A>G (p.Gln1486Arg)
n.9637A>G
n.3102A>G
c.5297A>G (p.Gln1766Arg)
c.5381A>G (p.Gln1794Arg)
c.5429A>G (p.Gln1810Arg)
c.4403A>G (p.Gln1468Arg)
c.3984A>G
c.3545A>G (p.Gln1182Arg)
c.*1362A>G (n.*1362A>G)
c.4698A>G
c.5471A>G (p.Gln1824Arg)
c.5468A>G (p.Gln1823Arg)
c.5423A>G (p.Gln1808Arg)
c.4547A>G (p.Gln1516Arg)
c.4316A>G (p.Gln1439Arg)
10g.94298640A>TCA377642265PLCE1c.4505A>T (p.Gln1502Leu)
c.*1972A>T (n.*1972A>T)
n.2164A>T
n.848A>T
c.*713A>T (n.*713A>T)
c.4457A>T (p.Gln1486Leu)
n.9637A>T
n.3102A>T
c.5297A>T (p.Gln1766Leu)
c.5381A>T (p.Gln1794Leu)
c.5429A>T (p.Gln1810Leu)
c.4403A>T (p.Gln1468Leu)
c.3984A>T
c.3545A>T (p.Gln1182Leu)
c.*1362A>T (n.*1362A>T)
c.4698A>T
c.5471A>T (p.Gln1824Leu)
c.5468A>T (p.Gln1823Leu)
c.5423A>T (p.Gln1808Leu)
c.4547A>T (p.Gln1516Leu)
c.4316A>T (p.Gln1439Leu)
10g.94298641G>ACA470986635PLCE1c.4506G>A (p.Gln1502=)
c.*1973G>A (n.*1973G>A)
n.2165G>A
n.849G>A
c.*714G>A (n.*714G>A)
c.4458G>A (p.Gln1486=)
n.9638G>A
n.3103G>A
c.5298G>A (p.Gln1766=)
c.5382G>A (p.Gln1794=)
c.5430G>A (p.Gln1810=)
c.4404G>A (p.Gln1468=)
c.3985G>A
c.3546G>A (p.Gln1182=)
c.*1363G>A (n.*1363G>A)
c.4699G>A
c.5472G>A (p.Gln1824=)
c.5469G>A (p.Gln1823=)
c.5424G>A (p.Gln1808=)
c.4548G>A (p.Gln1516=)
c.4317G>A (p.Gln1439=)
10g.94298641G>CCA377642268PLCE1c.4506G>C (p.Gln1502His)
c.*1973G>C (n.*1973G>C)
n.2165G>C
n.849G>C
c.*714G>C (n.*714G>C)
c.4458G>C (p.Gln1486His)
n.9638G>C
n.3103G>C
c.5298G>C (p.Gln1766His)
c.5382G>C (p.Gln1794His)
c.5430G>C (p.Gln1810His)
c.4404G>C (p.Gln1468His)
c.3985G>C
c.3546G>C (p.Gln1182His)
c.*1363G>C (n.*1363G>C)
c.4699G>C
c.5472G>C (p.Gln1824His)
c.5469G>C (p.Gln1823His)
c.5424G>C (p.Gln1808His)
c.4548G>C (p.Gln1516His)
c.4317G>C (p.Gln1439His)
10g.94298641G>TCA377642270PLCE1c.4506G>T (p.Gln1502His)
c.*1973G>T (n.*1973G>T)
n.2165G>T
n.849G>T
c.*714G>T (n.*714G>T)
c.4458G>T (p.Gln1486His)
n.9638G>T
n.3103G>T
c.5298G>T (p.Gln1766His)
c.5382G>T (p.Gln1794His)
c.5430G>T (p.Gln1810His)
c.4404G>T (p.Gln1468His)
c.3985G>T
c.3546G>T (p.Gln1182His)
c.*1363G>T (n.*1363G>T)
c.4699G>T
c.5472G>T (p.Gln1824His)
c.5469G>T (p.Gln1823His)
c.5424G>T (p.Gln1808His)
c.4548G>T (p.Gln1516His)
c.4317G>T (p.Gln1439His)

Number of alleles fetched