Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched