Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
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.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=)

Number of alleles fetched