Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.94298383delCA891862859PLCE1c.4248del (p.Cys1417ValfsTer?)
c.*1715del (n.*1715del)
n.1907del
n.591del
c.*456del (n.*456del)
c.4200del (p.Cys1401ValfsTer?)
n.9380del
n.2845del
c.5040del (p.Cys1681ValfsTer?)
c.5124del (p.Cys1709ValfsTer?)
c.5172del (p.Cys1725ValfsTer?)
c.4146del (p.Cys1383ValfsTer?)
c.3727del
c.3288del (p.Cys1097ValfsTer?)
c.*1105del (n.*1105del)
c.4441del
c.4017del (p.Cys1340ValfsTer?)
c.5214del (p.Cys1739ValfsTer?)
c.5211del (p.Cys1738ValfsTer?)
c.5166del (p.Cys1723ValfsTer?)
c.4290del (p.Cys1431ValfsTer?)
c.4059del (p.Cys1354ValfsTer?)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.94298383C>ACA470807917PLCE1c.4248C>A (p.Ser1416=)
c.*1715C>A (n.*1715C>A)
n.1907C>A
n.591C>A
c.*456C>A (n.*456C>A)
c.4200C>A (p.Ser1400=)
n.9380C>A
n.2845C>A
c.5040C>A (p.Ser1680=)
c.5124C>A (p.Ser1708=)
c.5172C>A (p.Ser1724=)
c.4146C>A (p.Ser1382=)
c.3727C>A
c.3288C>A (p.Ser1096=)
c.*1105C>A (n.*1105C>A)
c.4441C>A
c.4017C>A (p.Ser1339=)
c.5214C>A (p.Ser1738=)
c.5211C>A (p.Ser1737=)
c.5166C>A (p.Ser1722=)
c.4290C>A (p.Ser1430=)
c.4059C>A (p.Ser1353=)
10g.94298383C>GCA470807919PLCE1c.4248C>G (p.Ser1416=)
c.*1715C>G (n.*1715C>G)
n.1907C>G
n.591C>G
c.*456C>G (n.*456C>G)
c.4200C>G (p.Ser1400=)
n.9380C>G
n.2845C>G
c.5040C>G (p.Ser1680=)
c.5124C>G (p.Ser1708=)
c.5172C>G (p.Ser1724=)
c.4146C>G (p.Ser1382=)
c.3727C>G
c.3288C>G (p.Ser1096=)
c.*1105C>G (n.*1105C>G)
c.4441C>G
c.4017C>G (p.Ser1339=)
c.5214C>G (p.Ser1738=)
c.5211C>G (p.Ser1737=)
c.5166C>G (p.Ser1722=)
c.4290C>G (p.Ser1430=)
c.4059C>G (p.Ser1353=)
10g.94298383C>TCA470807918PLCE1c.4248C>T (p.Ser1416=)
c.*1715C>T (n.*1715C>T)
n.1907C>T
n.591C>T
c.*456C>T (n.*456C>T)
c.4200C>T (p.Ser1400=)
n.9380C>T
n.2845C>T
c.5040C>T (p.Ser1680=)
c.5124C>T (p.Ser1708=)
c.5172C>T (p.Ser1724=)
c.4146C>T (p.Ser1382=)
c.3727C>T
c.3288C>T (p.Ser1096=)
c.*1105C>T (n.*1105C>T)
c.4441C>T
c.4017C>T (p.Ser1339=)
c.5214C>T (p.Ser1738=)
c.5211C>T (p.Ser1737=)
c.5166C>T (p.Ser1722=)
c.4290C>T (p.Ser1430=)
c.4059C>T (p.Ser1353=)
10g.94298384T>ACA377641661PLCE1c.4249T>A (p.Cys1417Ser)
c.*1716T>A (n.*1716T>A)
n.1908T>A
n.592T>A
c.*457T>A (n.*457T>A)
c.4201T>A (p.Cys1401Ser)
n.9381T>A
n.2846T>A
c.5041T>A (p.Cys1681Ser)
c.5125T>A (p.Cys1709Ser)
c.5173T>A (p.Cys1725Ser)
c.4147T>A (p.Cys1383Ser)
c.3728T>A
c.3289T>A (p.Cys1097Ser)
c.*1106T>A (n.*1106T>A)
c.4442T>A
c.4018T>A (p.Cys1340Ser)
c.5215T>A (p.Cys1739Ser)
c.5212T>A (p.Cys1738Ser)
c.5167T>A (p.Cys1723Ser)
c.4291T>A (p.Cys1431Ser)
c.4060T>A (p.Cys1354Ser)
10g.94298384T>CCA377641662PLCE1c.4249T>C (p.Cys1417Arg)
c.*1716T>C (n.*1716T>C)
n.1908T>C
n.592T>C
c.*457T>C (n.*457T>C)
c.4201T>C (p.Cys1401Arg)
n.9381T>C
n.2846T>C
c.5041T>C (p.Cys1681Arg)
c.5125T>C (p.Cys1709Arg)
c.5173T>C (p.Cys1725Arg)
c.4147T>C (p.Cys1383Arg)
c.3728T>C
c.3289T>C (p.Cys1097Arg)
c.*1106T>C (n.*1106T>C)
c.4442T>C
c.4018T>C (p.Cys1340Arg)
c.5215T>C (p.Cys1739Arg)
c.5212T>C (p.Cys1738Arg)
c.5167T>C (p.Cys1723Arg)
c.4291T>C (p.Cys1431Arg)
c.4060T>C (p.Cys1354Arg)
10g.94298384T>GCA377641663PLCE1c.4249T>G (p.Cys1417Gly)
c.*1716T>G (n.*1716T>G)
n.1908T>G
n.592T>G
c.*457T>G (n.*457T>G)
c.4201T>G (p.Cys1401Gly)
n.9381T>G
n.2846T>G
c.5041T>G (p.Cys1681Gly)
c.5125T>G (p.Cys1709Gly)
c.5173T>G (p.Cys1725Gly)
c.4147T>G (p.Cys1383Gly)
c.3728T>G
c.3289T>G (p.Cys1097Gly)
c.*1106T>G (n.*1106T>G)
c.4442T>G
c.4018T>G (p.Cys1340Gly)
c.5215T>G (p.Cys1739Gly)
c.5212T>G (p.Cys1738Gly)
c.5167T>G (p.Cys1723Gly)
c.4291T>G (p.Cys1431Gly)
c.4060T>G (p.Cys1354Gly)
10g.94298385G>ACA377641665PLCE1c.4250G>A (p.Cys1417Tyr)
c.*1717G>A (n.*1717G>A)
n.1909G>A
n.593G>A
c.*458G>A (n.*458G>A)
c.4202G>A (p.Cys1401Tyr)
n.9382G>A
n.2847G>A
c.5042G>A (p.Cys1681Tyr)
c.5126G>A (p.Cys1709Tyr)
c.5174G>A (p.Cys1725Tyr)
c.4148G>A (p.Cys1383Tyr)
c.3729G>A
c.3290G>A (p.Cys1097Tyr)
c.*1107G>A (n.*1107G>A)
c.4443G>A
c.4019G>A (p.Cys1340Tyr)
c.5216G>A (p.Cys1739Tyr)
c.5213G>A (p.Cys1738Tyr)
c.5168G>A (p.Cys1723Tyr)
c.4292G>A (p.Cys1431Tyr)
c.4061G>A (p.Cys1354Tyr)
10g.94298385G>CCA377641664PLCE1c.4250G>C (p.Cys1417Ser)
c.*1717G>C (n.*1717G>C)
n.1909G>C
n.593G>C
c.*458G>C (n.*458G>C)
c.4202G>C (p.Cys1401Ser)
n.9382G>C
n.2847G>C
c.5042G>C (p.Cys1681Ser)
c.5126G>C (p.Cys1709Ser)
c.5174G>C (p.Cys1725Ser)
c.4148G>C (p.Cys1383Ser)
c.3729G>C
c.3290G>C (p.Cys1097Ser)
c.*1107G>C (n.*1107G>C)
c.4443G>C
c.4019G>C (p.Cys1340Ser)
c.5216G>C (p.Cys1739Ser)
c.5213G>C (p.Cys1738Ser)
c.5168G>C (p.Cys1723Ser)
c.4292G>C (p.Cys1431Ser)
c.4061G>C (p.Cys1354Ser)
10g.94298385G=CA1928998366PLCE1c.4250G= (p.Cys1417=)
c.*1717G= (n.*1717G=)
n.1909G=
n.593G=
c.*458G= (n.*458G=)
c.4202G= (p.Cys1401=)
n.9382G=
n.2847G=
c.5042G= (p.Cys1681=)
c.5126G= (p.Cys1709=)
c.5174G= (p.Cys1725=)
c.4148G= (p.Cys1383=)
c.3729G=
c.3290G= (p.Cys1097=)
c.*1107G= (n.*1107G=)
c.4443G=
c.4019G= (p.Cys1340=)
c.5216G= (p.Cys1739=)
c.5213G= (p.Cys1738=)
c.5168G= (p.Cys1723=)
c.4292G= (p.Cys1431=)
c.4061G= (p.Cys1354=)
10g.94298385G>TCA5613310PLCE1c.4250G>T (p.Cys1417Phe)
c.*1717G>T (n.*1717G>T)
n.1909G>T
n.593G>T
c.*458G>T (n.*458G>T)
c.4202G>T (p.Cys1401Phe)
n.9382G>T
n.2847G>T
c.5042G>T (p.Cys1681Phe)
c.5126G>T (p.Cys1709Phe)
c.5174G>T (p.Cys1725Phe)
c.4148G>T (p.Cys1383Phe)
c.3729G>T
c.3290G>T (p.Cys1097Phe)
c.*1107G>T (n.*1107G>T)
c.4443G>T
c.4019G>T (p.Cys1340Phe)
c.5216G>T (p.Cys1739Phe)
c.5213G>T (p.Cys1738Phe)
c.5168G>T (p.Cys1723Phe)
c.4292G>T (p.Cys1431Phe)
c.4061G>T (p.Cys1354Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298386T>ACA377641666PLCE1c.4251T>A (p.Cys1417Ter)
c.*1718T>A (n.*1718T>A)
n.1910T>A
n.594T>A
c.*459T>A (n.*459T>A)
c.4203T>A (p.Cys1401Ter)
n.9383T>A
n.2848T>A
c.5043T>A (p.Cys1681Ter)
c.5127T>A (p.Cys1709Ter)
c.5175T>A (p.Cys1725Ter)
c.4149T>A (p.Cys1383Ter)
c.3730T>A
c.3291T>A (p.Cys1097Ter)
c.*1108T>A (n.*1108T>A)
c.4444T>A
c.4020T>A (p.Cys1340Ter)
c.5217T>A (p.Cys1739Ter)
c.5214T>A (p.Cys1738Ter)
c.5169T>A (p.Cys1723Ter)
c.4293T>A (p.Cys1431Ter)
c.4062T>A (p.Cys1354Ter)
10g.94298386T>CCA5613312PLCE1c.4251T>C (p.Cys1417=)
c.*1718T>C (n.*1718T>C)
n.1910T>C
n.594T>C
c.*459T>C (n.*459T>C)
c.4203T>C (p.Cys1401=)
n.9383T>C
n.2848T>C
c.5043T>C (p.Cys1681=)
c.5127T>C (p.Cys1709=)
c.5175T>C (p.Cys1725=)
c.4149T>C (p.Cys1383=)
c.3730T>C
c.3291T>C (p.Cys1097=)
c.*1108T>C (n.*1108T>C)
c.4444T>C
c.4020T>C (p.Cys1340=)
c.5217T>C (p.Cys1739=)
c.5214T>C (p.Cys1738=)
c.5169T>C (p.Cys1723=)
c.4293T>C (p.Cys1431=)
c.4062T>C (p.Cys1354=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298386T>GCA5613311PLCE1c.4251T>G (p.Cys1417Trp)
c.*1718T>G (n.*1718T>G)
n.1910T>G
n.594T>G
c.*459T>G (n.*459T>G)
c.4203T>G (p.Cys1401Trp)
n.9383T>G
n.2848T>G
c.5043T>G (p.Cys1681Trp)
c.5127T>G (p.Cys1709Trp)
c.5175T>G (p.Cys1725Trp)
c.4149T>G (p.Cys1383Trp)
c.3730T>G
c.3291T>G (p.Cys1097Trp)
c.*1108T>G (n.*1108T>G)
c.4444T>G
c.4020T>G (p.Cys1340Trp)
c.5217T>G (p.Cys1739Trp)
c.5214T>G (p.Cys1738Trp)
c.5169T>G (p.Cys1723Trp)
c.4293T>G (p.Cys1431Trp)
c.4062T>G (p.Cys1354Trp)
dbSNP ExAC gnomAD v2
10g.94298386T=CA1928998367PLCE1c.4251T= (p.Cys1417=)
c.*1718T= (n.*1718T=)
n.1910T=
n.594T=
c.*459T= (n.*459T=)
c.4203T= (p.Cys1401=)
n.9383T=
n.2848T=
c.5043T= (p.Cys1681=)
c.5127T= (p.Cys1709=)
c.5175T= (p.Cys1725=)
c.4149T= (p.Cys1383=)
c.3730T=
c.3291T= (p.Cys1097=)
c.*1108T= (n.*1108T=)
c.4444T=
c.4020T= (p.Cys1340=)
c.5217T= (p.Cys1739=)
c.5214T= (p.Cys1738=)
c.5169T= (p.Cys1723=)
c.4293T= (p.Cys1431=)
c.4062T= (p.Cys1354=)
10g.94298387G>ACA377641667PLCE1c.4252G>A (p.Glu1418Lys)
c.*1719G>A (n.*1719G>A)
n.1911G>A
n.595G>A
c.*460G>A (n.*460G>A)
c.4204G>A (p.Glu1402Lys)
n.9384G>A
n.2849G>A
c.5044G>A (p.Glu1682Lys)
c.5128G>A (p.Glu1710Lys)
c.5176G>A (p.Glu1726Lys)
c.4150G>A (p.Glu1384Lys)
c.3731G>A
c.3292G>A (p.Glu1098Lys)
c.*1109G>A (n.*1109G>A)
c.4445G>A
c.4021G>A (p.Glu1341Lys)
c.5218G>A (p.Glu1740Lys)
c.5215G>A (p.Glu1739Lys)
c.5170G>A (p.Glu1724Lys)
c.4294G>A (p.Glu1432Lys)
c.4063G>A (p.Glu1355Lys)
10g.94298387G>CCA377641668PLCE1c.4252G>C (p.Glu1418Gln)
c.*1719G>C (n.*1719G>C)
n.1911G>C
n.595G>C
c.*460G>C (n.*460G>C)
c.4204G>C (p.Glu1402Gln)
n.9384G>C
n.2849G>C
c.5044G>C (p.Glu1682Gln)
c.5128G>C (p.Glu1710Gln)
c.5176G>C (p.Glu1726Gln)
c.4150G>C (p.Glu1384Gln)
c.3731G>C
c.3292G>C (p.Glu1098Gln)
c.*1109G>C (n.*1109G>C)
c.4445G>C
c.4021G>C (p.Glu1341Gln)
c.5218G>C (p.Glu1740Gln)
c.5215G>C (p.Glu1739Gln)
c.5170G>C (p.Glu1724Gln)
c.4294G>C (p.Glu1432Gln)
c.4063G>C (p.Glu1355Gln)
10g.94298387G>TCA377641669PLCE1c.4252G>T (p.Glu1418Ter)
c.*1719G>T (n.*1719G>T)
n.1911G>T
n.595G>T
c.*460G>T (n.*460G>T)
c.4204G>T (p.Glu1402Ter)
n.9384G>T
n.2849G>T
c.5044G>T (p.Glu1682Ter)
c.5128G>T (p.Glu1710Ter)
c.5176G>T (p.Glu1726Ter)
c.4150G>T (p.Glu1384Ter)
c.3731G>T
c.3292G>T (p.Glu1098Ter)
c.*1109G>T (n.*1109G>T)
c.4445G>T
c.4021G>T (p.Glu1341Ter)
c.5218G>T (p.Glu1740Ter)
c.5215G>T (p.Glu1739Ter)
c.5170G>T (p.Glu1724Ter)
c.4294G>T (p.Glu1432Ter)
c.4063G>T (p.Glu1355Ter)
10g.94298388A>CCA377641670PLCE1c.4253A>C (p.Glu1418Ala)
c.*1720A>C (n.*1720A>C)
n.1912A>C
n.596A>C
c.*461A>C (n.*461A>C)
c.4205A>C (p.Glu1402Ala)
n.9385A>C
n.2850A>C
c.5045A>C (p.Glu1682Ala)
c.5129A>C (p.Glu1710Ala)
c.5177A>C (p.Glu1726Ala)
c.4151A>C (p.Glu1384Ala)
c.3732A>C
c.3293A>C (p.Glu1098Ala)
c.*1110A>C (n.*1110A>C)
c.4446A>C
c.4022A>C (p.Glu1341Ala)
c.5219A>C (p.Glu1740Ala)
c.5216A>C (p.Glu1739Ala)
c.5171A>C (p.Glu1724Ala)
c.4295A>C (p.Glu1432Ala)
c.4064A>C (p.Glu1355Ala)
10g.94298388A>GCA377641672PLCE1c.4253A>G (p.Glu1418Gly)
c.*1720A>G (n.*1720A>G)
n.1912A>G
n.596A>G
c.*461A>G (n.*461A>G)
c.4205A>G (p.Glu1402Gly)
n.9385A>G
n.2850A>G
c.5045A>G (p.Glu1682Gly)
c.5129A>G (p.Glu1710Gly)
c.5177A>G (p.Glu1726Gly)
c.4151A>G (p.Glu1384Gly)
c.3732A>G
c.3293A>G (p.Glu1098Gly)
c.*1110A>G (n.*1110A>G)
c.4446A>G
c.4022A>G (p.Glu1341Gly)
c.5219A>G (p.Glu1740Gly)
c.5216A>G (p.Glu1739Gly)
c.5171A>G (p.Glu1724Gly)
c.4295A>G (p.Glu1432Gly)
c.4064A>G (p.Glu1355Gly)
10g.94298388A>TCA377641671PLCE1c.4253A>T (p.Glu1418Val)
c.*1720A>T (n.*1720A>T)
n.1912A>T
n.596A>T
c.*461A>T (n.*461A>T)
c.4205A>T (p.Glu1402Val)
n.9385A>T
n.2850A>T
c.5045A>T (p.Glu1682Val)
c.5129A>T (p.Glu1710Val)
c.5177A>T (p.Glu1726Val)
c.4151A>T (p.Glu1384Val)
c.3732A>T
c.3293A>T (p.Glu1098Val)
c.*1110A>T (n.*1110A>T)
c.4446A>T
c.4022A>T (p.Glu1341Val)
c.5219A>T (p.Glu1740Val)
c.5216A>T (p.Glu1739Val)
c.5171A>T (p.Glu1724Val)
c.4295A>T (p.Glu1432Val)
c.4064A>T (p.Glu1355Val)
10g.94298389A=CA1928998368PLCE1c.4254A= (p.Glu1418=)
c.*1721A= (n.*1721A=)
n.1913A=
n.597A=
c.*462A= (n.*462A=)
c.4206A= (p.Glu1402=)
n.9386A=
n.2851A=
c.5046A= (p.Glu1682=)
c.5130A= (p.Glu1710=)
c.5178A= (p.Glu1726=)
c.4152A= (p.Glu1384=)
c.3733A=
c.3294A= (p.Glu1098=)
c.*1111A= (n.*1111A=)
c.4447A=
c.4023A= (p.Glu1341=)
c.5220A= (p.Glu1740=)
c.5217A= (p.Glu1739=)
c.5172A= (p.Glu1724=)
c.4296A= (p.Glu1432=)
c.4065A= (p.Glu1355=)
10g.94298389A>CCA377641673PLCE1c.4254A>C (p.Glu1418Asp)
c.*1721A>C (n.*1721A>C)
n.1913A>C
n.597A>C
c.*462A>C (n.*462A>C)
c.4206A>C (p.Glu1402Asp)
n.9386A>C
n.2851A>C
c.5046A>C (p.Glu1682Asp)
c.5130A>C (p.Glu1710Asp)
c.5178A>C (p.Glu1726Asp)
c.4152A>C (p.Glu1384Asp)
c.3733A>C
c.3294A>C (p.Glu1098Asp)
c.*1111A>C (n.*1111A>C)
c.4447A>C
c.4023A>C (p.Glu1341Asp)
c.5220A>C (p.Glu1740Asp)
c.5217A>C (p.Glu1739Asp)
c.5172A>C (p.Glu1724Asp)
c.4296A>C (p.Glu1432Asp)
c.4065A>C (p.Glu1355Asp)
10g.94298389A>GCA470807920PLCE1c.4254A>G (p.Glu1418=)
c.*1721A>G (n.*1721A>G)
n.1913A>G
n.597A>G
c.*462A>G (n.*462A>G)
c.4206A>G (p.Glu1402=)
n.9386A>G
n.2851A>G
c.5046A>G (p.Glu1682=)
c.5130A>G (p.Glu1710=)
c.5178A>G (p.Glu1726=)
c.4152A>G (p.Glu1384=)
c.3733A>G
c.3294A>G (p.Glu1098=)
c.*1111A>G (n.*1111A>G)
c.4447A>G
c.4023A>G (p.Glu1341=)
c.5220A>G (p.Glu1740=)
c.5217A>G (p.Glu1739=)
c.5172A>G (p.Glu1724=)
c.4296A>G (p.Glu1432=)
c.4065A>G (p.Glu1355=)
dbSNP gnomAD v3 gnomAD v4
10g.94298389A>TCA377641674PLCE1c.4254A>T (p.Glu1418Asp)
c.*1721A>T (n.*1721A>T)
n.1913A>T
n.597A>T
c.*462A>T (n.*462A>T)
c.4206A>T (p.Glu1402Asp)
n.9386A>T
n.2851A>T
c.5046A>T (p.Glu1682Asp)
c.5130A>T (p.Glu1710Asp)
c.5178A>T (p.Glu1726Asp)
c.4152A>T (p.Glu1384Asp)
c.3733A>T
c.3294A>T (p.Glu1098Asp)
c.*1111A>T (n.*1111A>T)
c.4447A>T
c.4023A>T (p.Glu1341Asp)
c.5220A>T (p.Glu1740Asp)
c.5217A>T (p.Glu1739Asp)
c.5172A>T (p.Glu1724Asp)
c.4296A>T (p.Glu1432Asp)
c.4065A>T (p.Glu1355Asp)
10g.94298389_94298390insCACA645550158PLCE1c.4254_4255insCA (p.Gly1419GlnfsTer?)
c.*1721_*1722insCA (n.*1721_*1722insCA)
n.1913_1914insCA
n.597_598insCA
c.*462_*463insCA (n.*462_*463insCA)
c.4206_4207insCA (p.Gly1403GlnfsTer?)
n.9386_9387insCA
n.2851_2852insCA
c.5046_5047insCA (p.Gly1683GlnfsTer?)
c.5130_5131insCA (p.Gly1711GlnfsTer?)
c.5178_5179insCA (p.Gly1727GlnfsTer?)
c.4152_4153insCA (p.Gly1385GlnfsTer?)
c.3733_3734insCA
c.3294_3295insCA (p.Gly1099GlnfsTer?)
c.*1111_*1112insCA (n.*1111_*1112insCA)
c.4447_4448insCA
c.4023_4024insCA (p.Gly1342GlnfsTer?)
c.5220_5221insCA (p.Gly1741GlnfsTer?)
c.5217_5218insCA (p.Gly1740GlnfsTer?)
c.5172_5173insCA (p.Gly1725GlnfsTer?)
c.4296_4297insCA (p.Gly1433GlnfsTer?)
c.4065_4066insCA (p.Gly1356GlnfsTer?)
COSMIC COSMIC COSMIC COSMIC
10g.94298390G>ACA377641675PLCE1c.4255G>A (p.Gly1419Ser)
c.*1722G>A (n.*1722G>A)
n.1914G>A
n.598G>A
c.*463G>A (n.*463G>A)
c.4207G>A (p.Gly1403Ser)
n.9387G>A
n.2852G>A
c.5047G>A (p.Gly1683Ser)
c.5131G>A (p.Gly1711Ser)
c.5179G>A (p.Gly1727Ser)
c.4153G>A (p.Gly1385Ser)
c.3734G>A
c.3295G>A (p.Gly1099Ser)
c.*1112G>A (n.*1112G>A)
c.4448G>A
c.4024G>A (p.Gly1342Ser)
c.5221G>A (p.Gly1741Ser)
c.5218G>A (p.Gly1740Ser)
c.5173G>A (p.Gly1725Ser)
c.4297G>A (p.Gly1433Ser)
c.4066G>A (p.Gly1356Ser)
dbSNP gnomAD v4
10g.94298390G>CCA377641676PLCE1c.4255G>C (p.Gly1419Arg)
c.*1722G>C (n.*1722G>C)
n.1914G>C
n.598G>C
c.*463G>C (n.*463G>C)
c.4207G>C (p.Gly1403Arg)
n.9387G>C
n.2852G>C
c.5047G>C (p.Gly1683Arg)
c.5131G>C (p.Gly1711Arg)
c.5179G>C (p.Gly1727Arg)
c.4153G>C (p.Gly1385Arg)
c.3734G>C
c.3295G>C (p.Gly1099Arg)
c.*1112G>C (n.*1112G>C)
c.4448G>C
c.4024G>C (p.Gly1342Arg)
c.5221G>C (p.Gly1741Arg)
c.5218G>C (p.Gly1740Arg)
c.5173G>C (p.Gly1725Arg)
c.4297G>C (p.Gly1433Arg)
c.4066G>C (p.Gly1356Arg)
10g.94298390G=CA1928998369PLCE1c.4255G= (p.Gly1419=)
c.*1722G= (n.*1722G=)
n.1914G=
n.598G=
c.*463G= (n.*463G=)
c.4207G= (p.Gly1403=)
n.9387G=
n.2852G=
c.5047G= (p.Gly1683=)
c.5131G= (p.Gly1711=)
c.5179G= (p.Gly1727=)
c.4153G= (p.Gly1385=)
c.3734G=
c.3295G= (p.Gly1099=)
c.*1112G= (n.*1112G=)
c.4448G=
c.4024G= (p.Gly1342=)
c.5221G= (p.Gly1741=)
c.5218G= (p.Gly1740=)
c.5173G= (p.Gly1725=)
c.4297G= (p.Gly1433=)
c.4066G= (p.Gly1356=)
10g.94298390G>TCA377641677PLCE1c.4255G>T (p.Gly1419Cys)
c.*1722G>T (n.*1722G>T)
n.1914G>T
n.598G>T
c.*463G>T (n.*463G>T)
c.4207G>T (p.Gly1403Cys)
n.9387G>T
n.2852G>T
c.5047G>T (p.Gly1683Cys)
c.5131G>T (p.Gly1711Cys)
c.5179G>T (p.Gly1727Cys)
c.4153G>T (p.Gly1385Cys)
c.3734G>T
c.3295G>T (p.Gly1099Cys)
c.*1112G>T (n.*1112G>T)
c.4448G>T
c.4024G>T (p.Gly1342Cys)
c.5221G>T (p.Gly1741Cys)
c.5218G>T (p.Gly1740Cys)
c.5173G>T (p.Gly1725Cys)
c.4297G>T (p.Gly1433Cys)
c.4066G>T (p.Gly1356Cys)
10g.94298391G>ACA377641678PLCE1c.4256G>A (p.Gly1419Asp)
c.*1723G>A (n.*1723G>A)
n.1915G>A
n.599G>A
c.*464G>A (n.*464G>A)
c.4208G>A (p.Gly1403Asp)
n.9388G>A
n.2853G>A
c.5048G>A (p.Gly1683Asp)
c.5132G>A (p.Gly1711Asp)
c.5180G>A (p.Gly1727Asp)
c.4154G>A (p.Gly1385Asp)
c.3735G>A
c.3296G>A (p.Gly1099Asp)
c.*1113G>A (n.*1113G>A)
c.4449G>A
c.4025G>A (p.Gly1342Asp)
c.5222G>A (p.Gly1741Asp)
c.5219G>A (p.Gly1740Asp)
c.5174G>A (p.Gly1725Asp)
c.4298G>A (p.Gly1433Asp)
c.4067G>A (p.Gly1356Asp)
dbSNP gnomAD v4
10g.94298391G>CCA377641679PLCE1c.4256G>C (p.Gly1419Ala)
c.*1723G>C (n.*1723G>C)
n.1915G>C
n.599G>C
c.*464G>C (n.*464G>C)
c.4208G>C (p.Gly1403Ala)
n.9388G>C
n.2853G>C
c.5048G>C (p.Gly1683Ala)
c.5132G>C (p.Gly1711Ala)
c.5180G>C (p.Gly1727Ala)
c.4154G>C (p.Gly1385Ala)
c.3735G>C
c.3296G>C (p.Gly1099Ala)
c.*1113G>C (n.*1113G>C)
c.4449G>C
c.4025G>C (p.Gly1342Ala)
c.5222G>C (p.Gly1741Ala)
c.5219G>C (p.Gly1740Ala)
c.5174G>C (p.Gly1725Ala)
c.4298G>C (p.Gly1433Ala)
c.4067G>C (p.Gly1356Ala)
10g.94298391G=CA1928998370PLCE1c.4256G= (p.Gly1419=)
c.*1723G= (n.*1723G=)
n.1915G=
n.599G=
c.*464G= (n.*464G=)
c.4208G= (p.Gly1403=)
n.9388G=
n.2853G=
c.5048G= (p.Gly1683=)
c.5132G= (p.Gly1711=)
c.5180G= (p.Gly1727=)
c.4154G= (p.Gly1385=)
c.3735G=
c.3296G= (p.Gly1099=)
c.*1113G= (n.*1113G=)
c.4449G=
c.4025G= (p.Gly1342=)
c.5222G= (p.Gly1741=)
c.5219G= (p.Gly1740=)
c.5174G= (p.Gly1725=)
c.4298G= (p.Gly1433=)
c.4067G= (p.Gly1356=)
10g.94298391G>TCA377641680PLCE1c.4256G>T (p.Gly1419Val)
c.*1723G>T (n.*1723G>T)
n.1915G>T
n.599G>T
c.*464G>T (n.*464G>T)
c.4208G>T (p.Gly1403Val)
n.9388G>T
n.2853G>T
c.5048G>T (p.Gly1683Val)
c.5132G>T (p.Gly1711Val)
c.5180G>T (p.Gly1727Val)
c.4154G>T (p.Gly1385Val)
c.3735G>T
c.3296G>T (p.Gly1099Val)
c.*1113G>T (n.*1113G>T)
c.4449G>T
c.4025G>T (p.Gly1342Val)
c.5222G>T (p.Gly1741Val)
c.5219G>T (p.Gly1740Val)
c.5174G>T (p.Gly1725Val)
c.4298G>T (p.Gly1433Val)
c.4067G>T (p.Gly1356Val)
10g.94298392C>ACA470986397PLCE1c.4257C>A (p.Gly1419=)
c.*1724C>A (n.*1724C>A)
n.1916C>A
n.600C>A
c.*465C>A (n.*465C>A)
c.4209C>A (p.Gly1403=)
n.9389C>A
n.2854C>A
c.5049C>A (p.Gly1683=)
c.5133C>A (p.Gly1711=)
c.5181C>A (p.Gly1727=)
c.4155C>A (p.Gly1385=)
c.3736C>A
c.3297C>A (p.Gly1099=)
c.*1114C>A (n.*1114C>A)
c.4450C>A
c.4026C>A (p.Gly1342=)
c.5223C>A (p.Gly1741=)
c.5220C>A (p.Gly1740=)
c.5175C>A (p.Gly1725=)
c.4299C>A (p.Gly1433=)
c.4068C>A (p.Gly1356=)
10g.94298392C>GCA470986398PLCE1c.4257C>G (p.Gly1419=)
c.*1724C>G (n.*1724C>G)
n.1916C>G
n.600C>G
c.*465C>G (n.*465C>G)
c.4209C>G (p.Gly1403=)
n.9389C>G
n.2854C>G
c.5049C>G (p.Gly1683=)
c.5133C>G (p.Gly1711=)
c.5181C>G (p.Gly1727=)
c.4155C>G (p.Gly1385=)
c.3736C>G
c.3297C>G (p.Gly1099=)
c.*1114C>G (n.*1114C>G)
c.4450C>G
c.4026C>G (p.Gly1342=)
c.5223C>G (p.Gly1741=)
c.5220C>G (p.Gly1740=)
c.5175C>G (p.Gly1725=)
c.4299C>G (p.Gly1433=)
c.4068C>G (p.Gly1356=)
10g.94298392C>TCA470986399PLCE1c.4257C>T (p.Gly1419=)
c.*1724C>T (n.*1724C>T)
n.1916C>T
n.600C>T
c.*465C>T (n.*465C>T)
c.4209C>T (p.Gly1403=)
n.9389C>T
n.2854C>T
c.5049C>T (p.Gly1683=)
c.5133C>T (p.Gly1711=)
c.5181C>T (p.Gly1727=)
c.4155C>T (p.Gly1385=)
c.3736C>T
c.3297C>T (p.Gly1099=)
c.*1114C>T (n.*1114C>T)
c.4450C>T
c.4026C>T (p.Gly1342=)
c.5223C>T (p.Gly1741=)
c.5220C>T (p.Gly1740=)
c.5175C>T (p.Gly1725=)
c.4299C>T (p.Gly1433=)
c.4068C>T (p.Gly1356=)
gnomAD v4
10g.94298393A>CCA377641681PLCE1c.4258A>C (p.Ile1420Leu)
c.*1725A>C (n.*1725A>C)
n.1917A>C
n.601A>C
c.*466A>C (n.*466A>C)
c.4210A>C (p.Ile1404Leu)
n.9390A>C
n.2855A>C
c.5050A>C (p.Ile1684Leu)
c.5134A>C (p.Ile1712Leu)
c.5182A>C (p.Ile1728Leu)
c.4156A>C (p.Ile1386Leu)
c.3737A>C
c.3298A>C (p.Ile1100Leu)
c.*1115A>C (n.*1115A>C)
c.4451A>C
c.4027A>C (p.Ile1343Leu)
c.5224A>C (p.Ile1742Leu)
c.5221A>C (p.Ile1741Leu)
c.5176A>C (p.Ile1726Leu)
c.4300A>C (p.Ile1434Leu)
c.4069A>C (p.Ile1357Leu)
10g.94298393A>GCA377641682PLCE1c.4258A>G (p.Ile1420Val)
c.*1725A>G (n.*1725A>G)
n.1917A>G
n.601A>G
c.*466A>G (n.*466A>G)
c.4210A>G (p.Ile1404Val)
n.9390A>G
n.2855A>G
c.5050A>G (p.Ile1684Val)
c.5134A>G (p.Ile1712Val)
c.5182A>G (p.Ile1728Val)
c.4156A>G (p.Ile1386Val)
c.3737A>G
c.3298A>G (p.Ile1100Val)
c.*1115A>G (n.*1115A>G)
c.4451A>G
c.4027A>G (p.Ile1343Val)
c.5224A>G (p.Ile1742Val)
c.5221A>G (p.Ile1741Val)
c.5176A>G (p.Ile1726Val)
c.4300A>G (p.Ile1434Val)
c.4069A>G (p.Ile1357Val)
gnomAD v4
10g.94298393A>TCA377641683PLCE1c.4258A>T (p.Ile1420Phe)
c.*1725A>T (n.*1725A>T)
n.1917A>T
n.601A>T
c.*466A>T (n.*466A>T)
c.4210A>T (p.Ile1404Phe)
n.9390A>T
n.2855A>T
c.5050A>T (p.Ile1684Phe)
c.5134A>T (p.Ile1712Phe)
c.5182A>T (p.Ile1728Phe)
c.4156A>T (p.Ile1386Phe)
c.3737A>T
c.3298A>T (p.Ile1100Phe)
c.*1115A>T (n.*1115A>T)
c.4451A>T
c.4027A>T (p.Ile1343Phe)
c.5224A>T (p.Ile1742Phe)
c.5221A>T (p.Ile1741Phe)
c.5176A>T (p.Ile1726Phe)
c.4300A>T (p.Ile1434Phe)
c.4069A>T (p.Ile1357Phe)
10g.94298394T>ACA377641684PLCE1c.4259T>A (p.Ile1420Asn)
c.*1726T>A (n.*1726T>A)
n.1918T>A
n.602T>A
c.*467T>A (n.*467T>A)
c.4211T>A (p.Ile1404Asn)
n.9391T>A
n.2856T>A
c.5051T>A (p.Ile1684Asn)
c.5135T>A (p.Ile1712Asn)
c.5183T>A (p.Ile1728Asn)
c.4157T>A (p.Ile1386Asn)
c.3738T>A
c.3299T>A (p.Ile1100Asn)
c.*1116T>A (n.*1116T>A)
c.4452T>A
c.4028T>A (p.Ile1343Asn)
c.5225T>A (p.Ile1742Asn)
c.5222T>A (p.Ile1741Asn)
c.5177T>A (p.Ile1726Asn)
c.4301T>A (p.Ile1434Asn)
c.4070T>A (p.Ile1357Asn)
10g.94298394T>CCA377641686PLCE1c.4259T>C (p.Ile1420Thr)
c.*1726T>C (n.*1726T>C)
n.1918T>C
n.602T>C
c.*467T>C (n.*467T>C)
c.4211T>C (p.Ile1404Thr)
n.9391T>C
n.2856T>C
c.5051T>C (p.Ile1684Thr)
c.5135T>C (p.Ile1712Thr)
c.5183T>C (p.Ile1728Thr)
c.4157T>C (p.Ile1386Thr)
c.3738T>C
c.3299T>C (p.Ile1100Thr)
c.*1116T>C (n.*1116T>C)
c.4452T>C
c.4028T>C (p.Ile1343Thr)
c.5225T>C (p.Ile1742Thr)
c.5222T>C (p.Ile1741Thr)
c.5177T>C (p.Ile1726Thr)
c.4301T>C (p.Ile1434Thr)
c.4070T>C (p.Ile1357Thr)
10g.94298394T>GCA377641685PLCE1c.4259T>G (p.Ile1420Ser)
c.*1726T>G (n.*1726T>G)
n.1918T>G
n.602T>G
c.*467T>G (n.*467T>G)
c.4211T>G (p.Ile1404Ser)
n.9391T>G
n.2856T>G
c.5051T>G (p.Ile1684Ser)
c.5135T>G (p.Ile1712Ser)
c.5183T>G (p.Ile1728Ser)
c.4157T>G (p.Ile1386Ser)
c.3738T>G
c.3299T>G (p.Ile1100Ser)
c.*1116T>G (n.*1116T>G)
c.4452T>G
c.4028T>G (p.Ile1343Ser)
c.5225T>G (p.Ile1742Ser)
c.5222T>G (p.Ile1741Ser)
c.5177T>G (p.Ile1726Ser)
c.4301T>G (p.Ile1434Ser)
c.4070T>G (p.Ile1357Ser)
10g.94298395T>ACA470986401PLCE1c.4260T>A (p.Ile1420=)
c.*1727T>A (n.*1727T>A)
n.1919T>A
n.603T>A
c.*468T>A (n.*468T>A)
c.4212T>A (p.Ile1404=)
n.9392T>A
n.2857T>A
c.5052T>A (p.Ile1684=)
c.5136T>A (p.Ile1712=)
c.5184T>A (p.Ile1728=)
c.4158T>A (p.Ile1386=)
c.3739T>A
c.3300T>A (p.Ile1100=)
c.*1117T>A (n.*1117T>A)
c.4453T>A
c.4029T>A (p.Ile1343=)
c.5226T>A (p.Ile1742=)
c.5223T>A (p.Ile1741=)
c.5178T>A (p.Ile1726=)
c.4302T>A (p.Ile1434=)
c.4071T>A (p.Ile1357=)
10g.94298395T>CCA470986402PLCE1c.4260T>C (p.Ile1420=)
c.*1727T>C (n.*1727T>C)
n.1919T>C
n.603T>C
c.*468T>C (n.*468T>C)
c.4212T>C (p.Ile1404=)
n.9392T>C
n.2857T>C
c.5052T>C (p.Ile1684=)
c.5136T>C (p.Ile1712=)
c.5184T>C (p.Ile1728=)
c.4158T>C (p.Ile1386=)
c.3739T>C
c.3300T>C (p.Ile1100=)
c.*1117T>C (n.*1117T>C)
c.4453T>C
c.4029T>C (p.Ile1343=)
c.5226T>C (p.Ile1742=)
c.5223T>C (p.Ile1741=)
c.5178T>C (p.Ile1726=)
c.4302T>C (p.Ile1434=)
c.4071T>C (p.Ile1357=)
10g.94298395T>GCA377641687PLCE1c.4260T>G (p.Ile1420Met)
c.*1727T>G (n.*1727T>G)
n.1919T>G
n.603T>G
c.*468T>G (n.*468T>G)
c.4212T>G (p.Ile1404Met)
n.9392T>G
n.2857T>G
c.5052T>G (p.Ile1684Met)
c.5136T>G (p.Ile1712Met)
c.5184T>G (p.Ile1728Met)
c.4158T>G (p.Ile1386Met)
c.3739T>G
c.3300T>G (p.Ile1100Met)
c.*1117T>G (n.*1117T>G)
c.4453T>G
c.4029T>G (p.Ile1343Met)
c.5226T>G (p.Ile1742Met)
c.5223T>G (p.Ile1741Met)
c.5178T>G (p.Ile1726Met)
c.4302T>G (p.Ile1434Met)
c.4071T>G (p.Ile1357Met)
10g.94298396C>ACA470986403PLCE1c.4261C>A (p.Arg1421=)
c.*1728C>A (n.*1728C>A)
n.1920C>A
n.604C>A
c.*469C>A (n.*469C>A)
c.4213C>A (p.Arg1405=)
n.9393C>A
n.2858C>A
c.5053C>A (p.Arg1685=)
c.5137C>A (p.Arg1713=)
c.5185C>A (p.Arg1729=)
c.4159C>A (p.Arg1387=)
c.3740C>A
c.3301C>A (p.Arg1101=)
c.*1118C>A (n.*1118C>A)
c.4454C>A
c.4030C>A (p.Arg1344=)
c.5227C>A (p.Arg1743=)
c.5224C>A (p.Arg1742=)
c.5179C>A (p.Arg1727=)
c.4303C>A (p.Arg1435=)
c.4072C>A (p.Arg1358=)
10g.94298396C=CA1928998371PLCE1c.4261C= (p.Arg1421=)
c.*1728C= (n.*1728C=)
n.1920C=
n.604C=
c.*469C= (n.*469C=)
c.4213C= (p.Arg1405=)
n.9393C=
n.2858C=
c.5053C= (p.Arg1685=)
c.5137C= (p.Arg1713=)
c.5185C= (p.Arg1729=)
c.4159C= (p.Arg1387=)
c.3740C=
c.3301C= (p.Arg1101=)
c.*1118C= (n.*1118C=)
c.4454C=
c.4030C= (p.Arg1344=)
c.5227C= (p.Arg1743=)
c.5224C= (p.Arg1742=)
c.5179C= (p.Arg1727=)
c.4303C= (p.Arg1435=)
c.4072C= (p.Arg1358=)
10g.94298396C>GCA377641688PLCE1c.4261C>G (p.Arg1421Gly)
c.*1728C>G (n.*1728C>G)
n.1920C>G
n.604C>G
c.*469C>G (n.*469C>G)
c.4213C>G (p.Arg1405Gly)
n.9393C>G
n.2858C>G
c.5053C>G (p.Arg1685Gly)
c.5137C>G (p.Arg1713Gly)
c.5185C>G (p.Arg1729Gly)
c.4159C>G (p.Arg1387Gly)
c.3740C>G
c.3301C>G (p.Arg1101Gly)
c.*1118C>G (n.*1118C>G)
c.4454C>G
c.4030C>G (p.Arg1344Gly)
c.5227C>G (p.Arg1743Gly)
c.5224C>G (p.Arg1742Gly)
c.5179C>G (p.Arg1727Gly)
c.4303C>G (p.Arg1435Gly)
c.4072C>G (p.Arg1358Gly)
10g.94298396C>TCA5613313PLCE1c.4261C>T (p.Arg1421Ter)
c.*1728C>T (n.*1728C>T)
n.1920C>T
n.604C>T
c.*469C>T (n.*469C>T)
c.4213C>T (p.Arg1405Ter)
n.9393C>T
n.2858C>T
c.5053C>T (p.Arg1685Ter)
c.5137C>T (p.Arg1713Ter)
c.5185C>T (p.Arg1729Ter)
c.4159C>T (p.Arg1387Ter)
c.3740C>T
c.3301C>T (p.Arg1101Ter)
c.*1118C>T (n.*1118C>T)
c.4454C>T
c.4030C>T (p.Arg1344Ter)
c.5227C>T (p.Arg1743Ter)
c.5224C>T (p.Arg1742Ter)
c.5179C>T (p.Arg1727Ter)
c.4303C>T (p.Arg1435Ter)
c.4072C>T (p.Arg1358Ter)
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched