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.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.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=)

Number of alleles fetched