Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.94298381_94298382delinsTC | CA1928998365 | PLCE1 | c.4246_4247delinsTC (p.Ser1416=) c.*1713_*1714delinsTC (n.*1713_*1714delinsTC) n.1905_1906delinsTC n.589_590delinsTC c.*454_*455delinsTC (n.*454_*455delinsTC) c.4198_4199delinsTC (p.Ser1400=) n.9378_9379delinsTC n.2843_2844delinsTC c.5038_5039delinsTC (p.Ser1680=) c.5122_5123delinsTC (p.Ser1708=) c.5170_5171delinsTC (p.Ser1724=) c.4144_4145delinsTC (p.Ser1382=) c.3725_3726delinsTC c.3286_3287delinsTC (p.Ser1096=) c.*1103_*1104delinsTC (n.*1103_*1104delinsTC) c.4439_4440delinsTC c.4015_4016delinsTC (p.Ser1339=) c.5212_5213delinsTC (p.Ser1738=) c.5209_5210delinsTC (p.Ser1737=) c.5164_5165delinsTC (p.Ser1722=) c.4288_4289delinsTC (p.Ser1430=) c.4057_4058delinsTC (p.Ser1353=) | |
10 | g.94298382C>A | CA377641658 | PLCE1 | c.4247C>A (p.Ser1416Tyr) c.*1714C>A (n.*1714C>A) n.1906C>A n.590C>A c.*455C>A (n.*455C>A) c.4199C>A (p.Ser1400Tyr) n.9379C>A n.2844C>A c.5039C>A (p.Ser1680Tyr) c.5123C>A (p.Ser1708Tyr) c.5171C>A (p.Ser1724Tyr) c.4145C>A (p.Ser1382Tyr) c.3726C>A c.3287C>A (p.Ser1096Tyr) c.*1104C>A (n.*1104C>A) c.4440C>A c.4016C>A (p.Ser1339Tyr) c.5213C>A (p.Ser1738Tyr) c.5210C>A (p.Ser1737Tyr) c.5165C>A (p.Ser1722Tyr) c.4289C>A (p.Ser1430Tyr) c.4058C>A (p.Ser1353Tyr) | |
10 | g.94298382C>G | CA377641659 | PLCE1 | c.4247C>G (p.Ser1416Cys) c.*1714C>G (n.*1714C>G) n.1906C>G n.590C>G c.*455C>G (n.*455C>G) c.4199C>G (p.Ser1400Cys) n.9379C>G n.2844C>G c.5039C>G (p.Ser1680Cys) c.5123C>G (p.Ser1708Cys) c.5171C>G (p.Ser1724Cys) c.4145C>G (p.Ser1382Cys) c.3726C>G c.3287C>G (p.Ser1096Cys) c.*1104C>G (n.*1104C>G) c.4440C>G c.4016C>G (p.Ser1339Cys) c.5213C>G (p.Ser1738Cys) c.5210C>G (p.Ser1737Cys) c.5165C>G (p.Ser1722Cys) c.4289C>G (p.Ser1430Cys) c.4058C>G (p.Ser1353Cys) | |
10 | g.94298382C>T | CA377641660 | PLCE1 | c.4247C>T (p.Ser1416Phe) c.*1714C>T (n.*1714C>T) n.1906C>T n.590C>T c.*455C>T (n.*455C>T) c.4199C>T (p.Ser1400Phe) n.9379C>T n.2844C>T c.5039C>T (p.Ser1680Phe) c.5123C>T (p.Ser1708Phe) c.5171C>T (p.Ser1724Phe) c.4145C>T (p.Ser1382Phe) c.3726C>T c.3287C>T (p.Ser1096Phe) c.*1104C>T (n.*1104C>T) c.4440C>T c.4016C>T (p.Ser1339Phe) c.5213C>T (p.Ser1738Phe) c.5210C>T (p.Ser1737Phe) c.5165C>T (p.Ser1722Phe) c.4289C>T (p.Ser1430Phe) c.4058C>T (p.Ser1353Phe) | |
10 | g.94298383del | CA891862859 | PLCE1 | c.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 |
10 | g.94298383C>A | CA470807917 | PLCE1 | c.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=) | |
10 | g.94298383C>G | CA470807919 | PLCE1 | c.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=) | |
10 | g.94298383C>T | CA470807918 | PLCE1 | c.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=) | |
10 | g.94298384T>A | CA377641661 | PLCE1 | c.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) | |
10 | g.94298384T>C | CA377641662 | PLCE1 | c.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) | |
10 | g.94298384T>G | CA377641663 | PLCE1 | c.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) | |
10 | g.94298385G>A | CA377641665 | PLCE1 | c.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) | |
10 | g.94298385G>C | CA377641664 | PLCE1 | c.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) | |
10 | g.94298385G= | CA1928998366 | PLCE1 | c.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=) | |
10 | g.94298385G>T | CA5613310 | PLCE1 | c.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 |
10 | g.94298386T>A | CA377641666 | PLCE1 | c.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) | |
10 | g.94298386T>C | CA5613312 | PLCE1 | c.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 |
10 | g.94298386T>G | CA5613311 | PLCE1 | c.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 |
10 | g.94298386T= | CA1928998367 | PLCE1 | c.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=) | |
10 | g.94298387G>A | CA377641667 | PLCE1 | c.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) | |
10 | g.94298387G>C | CA377641668 | PLCE1 | c.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) | |
10 | g.94298387G>T | CA377641669 | PLCE1 | c.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) | |
10 | g.94298388A>C | CA377641670 | PLCE1 | c.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) | |
10 | g.94298388A>G | CA377641672 | PLCE1 | c.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) | |
10 | g.94298388A>T | CA377641671 | PLCE1 | c.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) | |
10 | g.94298389A= | CA1928998368 | PLCE1 | c.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=) | |
10 | g.94298389A>C | CA377641673 | PLCE1 | c.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) | |
10 | g.94298389A>G | CA470807920 | PLCE1 | c.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 |
10 | g.94298389A>T | CA377641674 | PLCE1 | c.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) | |
10 | g.94298389_94298390insCA | CA645550158 | PLCE1 | c.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 |
10 | g.94298390G>A | CA377641675 | PLCE1 | c.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 |
10 | g.94298390G>C | CA377641676 | PLCE1 | c.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) | |
10 | g.94298390G= | CA1928998369 | PLCE1 | c.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=) | |
10 | g.94298390G>T | CA377641677 | PLCE1 | c.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) | |
10 | g.94298391G>A | CA377641678 | PLCE1 | c.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 |
10 | g.94298391G>C | CA377641679 | PLCE1 | c.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) | |
10 | g.94298391G= | CA1928998370 | PLCE1 | c.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=) | |
10 | g.94298391G>T | CA377641680 | PLCE1 | c.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) | |
10 | g.94298392C>A | CA470986397 | PLCE1 | c.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=) | |
10 | g.94298392C>G | CA470986398 | PLCE1 | c.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=) | |
10 | g.94298392C>T | CA470986399 | PLCE1 | c.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 |
10 | g.94298393A>C | CA377641681 | PLCE1 | c.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) | |
10 | g.94298393A>G | CA377641682 | PLCE1 | c.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 |
10 | g.94298393A>T | CA377641683 | PLCE1 | c.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) | |
10 | g.94298394T>A | CA377641684 | PLCE1 | c.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) | |
10 | g.94298394T>C | CA377641686 | PLCE1 | c.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) | |
10 | g.94298394T>G | CA377641685 | PLCE1 | c.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) | |
10 | g.94298395T>A | CA470986401 | PLCE1 | c.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=) | |
10 | g.94298395T>C | CA470986402 | PLCE1 | c.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=) | |
10 | g.94298395T>G | CA377641687 | PLCE1 | c.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) | |
10 | g.94298396C>A | CA470986403 | PLCE1 | c.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=) | |
10 | g.94298396C= | CA1928998371 | PLCE1 | c.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=) | |
10 | g.94298396C>G | CA377641688 | PLCE1 | c.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) | |
10 | g.94298396C>T | CA5613313 | PLCE1 | c.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 |
10 | g.94298397G>A | CA5613314 | PLCE1 | c.4262G>A (p.Arg1421Gln) c.*1729G>A (n.*1729G>A) n.1921G>A n.605G>A c.*470G>A (n.*470G>A) c.4214G>A (p.Arg1405Gln) n.9394G>A n.2859G>A c.5054G>A (p.Arg1685Gln) c.5138G>A (p.Arg1713Gln) c.5186G>A (p.Arg1729Gln) c.4160G>A (p.Arg1387Gln) c.3741G>A c.3302G>A (p.Arg1101Gln) c.*1119G>A (n.*1119G>A) c.4455G>A c.4031G>A (p.Arg1344Gln) c.5228G>A (p.Arg1743Gln) c.5225G>A (p.Arg1742Gln) c.5180G>A (p.Arg1727Gln) c.4304G>A (p.Arg1435Gln) c.4073G>A (p.Arg1358Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298397G>C | CA377641689 | PLCE1 | c.4262G>C (p.Arg1421Pro) c.*1729G>C (n.*1729G>C) n.1921G>C n.605G>C c.*470G>C (n.*470G>C) c.4214G>C (p.Arg1405Pro) n.9394G>C n.2859G>C c.5054G>C (p.Arg1685Pro) c.5138G>C (p.Arg1713Pro) c.5186G>C (p.Arg1729Pro) c.4160G>C (p.Arg1387Pro) c.3741G>C c.3302G>C (p.Arg1101Pro) c.*1119G>C (n.*1119G>C) c.4455G>C c.4031G>C (p.Arg1344Pro) c.5228G>C (p.Arg1743Pro) c.5225G>C (p.Arg1742Pro) c.5180G>C (p.Arg1727Pro) c.4304G>C (p.Arg1435Pro) c.4073G>C (p.Arg1358Pro) | |
10 | g.94298397G= | CA1928998372 | PLCE1 | c.4262G= (p.Arg1421=) c.*1729G= (n.*1729G=) n.1921G= n.605G= c.*470G= (n.*470G=) c.4214G= (p.Arg1405=) n.9394G= n.2859G= c.5054G= (p.Arg1685=) c.5138G= (p.Arg1713=) c.5186G= (p.Arg1729=) c.4160G= (p.Arg1387=) c.3741G= c.3302G= (p.Arg1101=) c.*1119G= (n.*1119G=) c.4455G= c.4031G= (p.Arg1344=) c.5228G= (p.Arg1743=) c.5225G= (p.Arg1742=) c.5180G= (p.Arg1727=) c.4304G= (p.Arg1435=) c.4073G= (p.Arg1358=) | |
10 | g.94298397G>T | CA377641690 | PLCE1 | c.4262G>T (p.Arg1421Leu) c.*1729G>T (n.*1729G>T) n.1921G>T n.605G>T c.*470G>T (n.*470G>T) c.4214G>T (p.Arg1405Leu) n.9394G>T n.2859G>T c.5054G>T (p.Arg1685Leu) c.5138G>T (p.Arg1713Leu) c.5186G>T (p.Arg1729Leu) c.4160G>T (p.Arg1387Leu) c.3741G>T c.3302G>T (p.Arg1101Leu) c.*1119G>T (n.*1119G>T) c.4455G>T c.4031G>T (p.Arg1344Leu) c.5228G>T (p.Arg1743Leu) c.5225G>T (p.Arg1742Leu) c.5180G>T (p.Arg1727Leu) c.4304G>T (p.Arg1435Leu) c.4073G>T (p.Arg1358Leu) | |
10 | g.94298398A>C | CA470986406 | PLCE1 | c.4263A>C (p.Arg1421=) c.*1730A>C (n.*1730A>C) n.1922A>C n.606A>C c.*471A>C (n.*471A>C) c.4215A>C (p.Arg1405=) n.9395A>C n.2860A>C c.5055A>C (p.Arg1685=) c.5139A>C (p.Arg1713=) c.5187A>C (p.Arg1729=) c.4161A>C (p.Arg1387=) c.3742A>C c.3303A>C (p.Arg1101=) c.*1120A>C (n.*1120A>C) c.4456A>C c.4032A>C (p.Arg1344=) c.5229A>C (p.Arg1743=) c.5226A>C (p.Arg1742=) c.5181A>C (p.Arg1727=) c.4305A>C (p.Arg1435=) c.4074A>C (p.Arg1358=) | |
10 | g.94298398A>G | CA470986407 | PLCE1 | c.4263A>G (p.Arg1421=) c.*1730A>G (n.*1730A>G) n.1922A>G n.606A>G c.*471A>G (n.*471A>G) c.4215A>G (p.Arg1405=) n.9395A>G n.2860A>G c.5055A>G (p.Arg1685=) c.5139A>G (p.Arg1713=) c.5187A>G (p.Arg1729=) c.4161A>G (p.Arg1387=) c.3742A>G c.3303A>G (p.Arg1101=) c.*1120A>G (n.*1120A>G) c.4456A>G c.4032A>G (p.Arg1344=) c.5229A>G (p.Arg1743=) c.5226A>G (p.Arg1742=) c.5181A>G (p.Arg1727=) c.4305A>G (p.Arg1435=) c.4074A>G (p.Arg1358=) | gnomAD v4 |
10 | g.94298398A>T | CA470986404 | PLCE1 | c.4263A>T (p.Arg1421=) c.*1730A>T (n.*1730A>T) n.1922A>T n.606A>T c.*471A>T (n.*471A>T) c.4215A>T (p.Arg1405=) n.9395A>T n.2860A>T c.5055A>T (p.Arg1685=) c.5139A>T (p.Arg1713=) c.5187A>T (p.Arg1729=) c.4161A>T (p.Arg1387=) c.3742A>T c.3303A>T (p.Arg1101=) c.*1120A>T (n.*1120A>T) c.4456A>T c.4032A>T (p.Arg1344=) c.5229A>T (p.Arg1743=) c.5226A>T (p.Arg1742=) c.5181A>T (p.Arg1727=) c.4305A>T (p.Arg1435=) c.4074A>T (p.Arg1358=) | |
10 | g.94298399C>A | CA377641691 | PLCE1 | c.4264C>A (p.Gln1422Lys) c.*1731C>A (n.*1731C>A) n.1923C>A n.607C>A c.*472C>A (n.*472C>A) c.4216C>A (p.Gln1406Lys) n.9396C>A n.2861C>A c.5056C>A (p.Gln1686Lys) c.5140C>A (p.Gln1714Lys) c.5188C>A (p.Gln1730Lys) c.4162C>A (p.Gln1388Lys) c.3743C>A c.3304C>A (p.Gln1102Lys) c.*1121C>A (n.*1121C>A) c.4457C>A c.4033C>A (p.Gln1345Lys) c.5230C>A (p.Gln1744Lys) c.5227C>A (p.Gln1743Lys) c.5182C>A (p.Gln1728Lys) c.4306C>A (p.Gln1436Lys) c.4075C>A (p.Gln1359Lys) | |
10 | g.94298399C= | CA1928998373 | PLCE1 | c.4264C= (p.Gln1422=) c.*1731C= (n.*1731C=) n.1923C= n.607C= c.*472C= (n.*472C=) c.4216C= (p.Gln1406=) n.9396C= n.2861C= c.5056C= (p.Gln1686=) c.5140C= (p.Gln1714=) c.5188C= (p.Gln1730=) c.4162C= (p.Gln1388=) c.3743C= c.3304C= (p.Gln1102=) c.*1121C= (n.*1121C=) c.4457C= c.4033C= (p.Gln1345=) c.5230C= (p.Gln1744=) c.5227C= (p.Gln1743=) c.5182C= (p.Gln1728=) c.4306C= (p.Gln1436=) c.4075C= (p.Gln1359=) | |
10 | g.94298399C>G | CA211599558 | PLCE1 | c.4264C>G (p.Gln1422Glu) c.*1731C>G (n.*1731C>G) n.1923C>G n.607C>G c.*472C>G (n.*472C>G) c.4216C>G (p.Gln1406Glu) n.9396C>G n.2861C>G c.5056C>G (p.Gln1686Glu) c.5140C>G (p.Gln1714Glu) c.5188C>G (p.Gln1730Glu) c.4162C>G (p.Gln1388Glu) c.3743C>G c.3304C>G (p.Gln1102Glu) c.*1121C>G (n.*1121C>G) c.4457C>G c.4033C>G (p.Gln1345Glu) c.5230C>G (p.Gln1744Glu) c.5227C>G (p.Gln1743Glu) c.5182C>G (p.Gln1728Glu) c.4306C>G (p.Gln1436Glu) c.4075C>G (p.Gln1359Glu) | dbSNP |
10 | g.94298399C>T | CA377641692 | PLCE1 | c.4264C>T (p.Gln1422Ter) c.*1731C>T (n.*1731C>T) n.1923C>T n.607C>T c.*472C>T (n.*472C>T) c.4216C>T (p.Gln1406Ter) n.9396C>T n.2861C>T c.5056C>T (p.Gln1686Ter) c.5140C>T (p.Gln1714Ter) c.5188C>T (p.Gln1730Ter) c.4162C>T (p.Gln1388Ter) c.3743C>T c.3304C>T (p.Gln1102Ter) c.*1121C>T (n.*1121C>T) c.4457C>T c.4033C>T (p.Gln1345Ter) c.5230C>T (p.Gln1744Ter) c.5227C>T (p.Gln1743Ter) c.5182C>T (p.Gln1728Ter) c.4306C>T (p.Gln1436Ter) c.4075C>T (p.Gln1359Ter) | |
10 | g.94298400A>C | CA377641693 | PLCE1 | c.4265A>C (p.Gln1422Pro) c.*1732A>C (n.*1732A>C) n.1924A>C n.608A>C c.*473A>C (n.*473A>C) c.4217A>C (p.Gln1406Pro) n.9397A>C n.2862A>C c.5057A>C (p.Gln1686Pro) c.5141A>C (p.Gln1714Pro) c.5189A>C (p.Gln1730Pro) c.4163A>C (p.Gln1388Pro) c.3744A>C c.3305A>C (p.Gln1102Pro) c.*1122A>C (n.*1122A>C) c.4458A>C c.4034A>C (p.Gln1345Pro) c.5231A>C (p.Gln1744Pro) c.5228A>C (p.Gln1743Pro) c.5183A>C (p.Gln1728Pro) c.4307A>C (p.Gln1436Pro) c.4076A>C (p.Gln1359Pro) | |
10 | g.94298400A>G | CA377641694 | PLCE1 | c.4265A>G (p.Gln1422Arg) c.*1732A>G (n.*1732A>G) n.1924A>G n.608A>G c.*473A>G (n.*473A>G) c.4217A>G (p.Gln1406Arg) n.9397A>G n.2862A>G c.5057A>G (p.Gln1686Arg) c.5141A>G (p.Gln1714Arg) c.5189A>G (p.Gln1730Arg) c.4163A>G (p.Gln1388Arg) c.3744A>G c.3305A>G (p.Gln1102Arg) c.*1122A>G (n.*1122A>G) c.4458A>G c.4034A>G (p.Gln1345Arg) c.5231A>G (p.Gln1744Arg) c.5228A>G (p.Gln1743Arg) c.5183A>G (p.Gln1728Arg) c.4307A>G (p.Gln1436Arg) c.4076A>G (p.Gln1359Arg) | |
10 | g.94298400A>T | CA377641695 | PLCE1 | c.4265A>T (p.Gln1422Leu) c.*1732A>T (n.*1732A>T) n.1924A>T n.608A>T c.*473A>T (n.*473A>T) c.4217A>T (p.Gln1406Leu) n.9397A>T n.2862A>T c.5057A>T (p.Gln1686Leu) c.5141A>T (p.Gln1714Leu) c.5189A>T (p.Gln1730Leu) c.4163A>T (p.Gln1388Leu) c.3744A>T c.3305A>T (p.Gln1102Leu) c.*1122A>T (n.*1122A>T) c.4458A>T c.4034A>T (p.Gln1345Leu) c.5231A>T (p.Gln1744Leu) c.5228A>T (p.Gln1743Leu) c.5183A>T (p.Gln1728Leu) c.4307A>T (p.Gln1436Leu) c.4076A>T (p.Gln1359Leu) | |
10 | g.94298401G>A | CA470986409 | PLCE1 | c.4266G>A (p.Gln1422=) c.*1733G>A (n.*1733G>A) n.1925G>A n.609G>A c.*474G>A (n.*474G>A) c.4218G>A (p.Gln1406=) n.9398G>A n.2863G>A c.5058G>A (p.Gln1686=) c.5142G>A (p.Gln1714=) c.5190G>A (p.Gln1730=) c.4164G>A (p.Gln1388=) c.3745G>A c.3306G>A (p.Gln1102=) c.*1123G>A (n.*1123G>A) c.4459G>A c.4035G>A (p.Gln1345=) c.5232G>A (p.Gln1744=) c.5229G>A (p.Gln1743=) c.5184G>A (p.Gln1728=) c.4308G>A (p.Gln1436=) c.4077G>A (p.Gln1359=) | |
10 | g.94298401G>C | CA377641697 | PLCE1 | c.4266G>C (p.Gln1422His) c.*1733G>C (n.*1733G>C) n.1925G>C n.609G>C c.*474G>C (n.*474G>C) c.4218G>C (p.Gln1406His) n.9398G>C n.2863G>C c.5058G>C (p.Gln1686His) c.5142G>C (p.Gln1714His) c.5190G>C (p.Gln1730His) c.4164G>C (p.Gln1388His) c.3745G>C c.3306G>C (p.Gln1102His) c.*1123G>C (n.*1123G>C) c.4459G>C c.4035G>C (p.Gln1345His) c.5232G>C (p.Gln1744His) c.5229G>C (p.Gln1743His) c.5184G>C (p.Gln1728His) c.4308G>C (p.Gln1436His) c.4077G>C (p.Gln1359His) | |
10 | g.94298401G>T | CA377641696 | PLCE1 | c.4266G>T (p.Gln1422His) c.*1733G>T (n.*1733G>T) n.1925G>T n.609G>T c.*474G>T (n.*474G>T) c.4218G>T (p.Gln1406His) n.9398G>T n.2863G>T c.5058G>T (p.Gln1686His) c.5142G>T (p.Gln1714His) c.5190G>T (p.Gln1730His) c.4164G>T (p.Gln1388His) c.3745G>T c.3306G>T (p.Gln1102His) c.*1123G>T (n.*1123G>T) c.4459G>T c.4035G>T (p.Gln1345His) c.5232G>T (p.Gln1744His) c.5229G>T (p.Gln1743His) c.5184G>T (p.Gln1728His) c.4308G>T (p.Gln1436His) c.4077G>T (p.Gln1359His) | |
10 | g.94298402A>C | CA377641698 | PLCE1 | c.4267A>C (p.Thr1423Pro) c.*1734A>C (n.*1734A>C) n.1926A>C n.610A>C c.*475A>C (n.*475A>C) c.4219A>C (p.Thr1407Pro) n.9399A>C n.2864A>C c.5059A>C (p.Thr1687Pro) c.5143A>C (p.Thr1715Pro) c.5191A>C (p.Thr1731Pro) c.4165A>C (p.Thr1389Pro) c.3746A>C c.3307A>C (p.Thr1103Pro) c.*1124A>C (n.*1124A>C) c.4460A>C c.4036A>C (p.Thr1346Pro) c.5233A>C (p.Thr1745Pro) c.5230A>C (p.Thr1744Pro) c.5185A>C (p.Thr1729Pro) c.4309A>C (p.Thr1437Pro) c.4078A>C (p.Thr1360Pro) | |
10 | g.94298402A>G | CA377641699 | PLCE1 | c.4267A>G (p.Thr1423Ala) c.*1734A>G (n.*1734A>G) n.1926A>G n.610A>G c.*475A>G (n.*475A>G) c.4219A>G (p.Thr1407Ala) n.9399A>G n.2864A>G c.5059A>G (p.Thr1687Ala) c.5143A>G (p.Thr1715Ala) c.5191A>G (p.Thr1731Ala) c.4165A>G (p.Thr1389Ala) c.3746A>G c.3307A>G (p.Thr1103Ala) c.*1124A>G (n.*1124A>G) c.4460A>G c.4036A>G (p.Thr1346Ala) c.5233A>G (p.Thr1745Ala) c.5230A>G (p.Thr1744Ala) c.5185A>G (p.Thr1729Ala) c.4309A>G (p.Thr1437Ala) c.4078A>G (p.Thr1360Ala) | |
10 | g.94298402A>T | CA377641700 | PLCE1 | c.4267A>T (p.Thr1423Ser) c.*1734A>T (n.*1734A>T) n.1926A>T n.610A>T c.*475A>T (n.*475A>T) c.4219A>T (p.Thr1407Ser) n.9399A>T n.2864A>T c.5059A>T (p.Thr1687Ser) c.5143A>T (p.Thr1715Ser) c.5191A>T (p.Thr1731Ser) c.4165A>T (p.Thr1389Ser) c.3746A>T c.3307A>T (p.Thr1103Ser) c.*1124A>T (n.*1124A>T) c.4460A>T c.4036A>T (p.Thr1346Ser) c.5233A>T (p.Thr1745Ser) c.5230A>T (p.Thr1744Ser) c.5185A>T (p.Thr1729Ser) c.4309A>T (p.Thr1437Ser) c.4078A>T (p.Thr1360Ser) | |
10 | g.94298403C>A | CA377641701 | PLCE1 | c.4268C>A (p.Thr1423Asn) c.*1735C>A (n.*1735C>A) n.1927C>A n.611C>A c.*476C>A (n.*476C>A) c.4220C>A (p.Thr1407Asn) n.9400C>A n.2865C>A c.5060C>A (p.Thr1687Asn) c.5144C>A (p.Thr1715Asn) c.5192C>A (p.Thr1731Asn) c.4166C>A (p.Thr1389Asn) c.3747C>A c.3308C>A (p.Thr1103Asn) c.*1125C>A (n.*1125C>A) c.4461C>A c.4037C>A (p.Thr1346Asn) c.5234C>A (p.Thr1745Asn) c.5231C>A (p.Thr1744Asn) c.5186C>A (p.Thr1729Asn) c.4310C>A (p.Thr1437Asn) c.4079C>A (p.Thr1360Asn) | gnomAD v4 |
10 | g.94298403C= | CA1928998374 | PLCE1 | c.4268C= (p.Thr1423=) c.*1735C= (n.*1735C=) n.1927C= n.611C= c.*476C= (n.*476C=) c.4220C= (p.Thr1407=) n.9400C= n.2865C= c.5060C= (p.Thr1687=) c.5144C= (p.Thr1715=) c.5192C= (p.Thr1731=) c.4166C= (p.Thr1389=) c.3747C= c.3308C= (p.Thr1103=) c.*1125C= (n.*1125C=) c.4461C= c.4037C= (p.Thr1346=) c.5234C= (p.Thr1745=) c.5231C= (p.Thr1744=) c.5186C= (p.Thr1729=) c.4310C= (p.Thr1437=) c.4079C= (p.Thr1360=) | |
10 | g.94298403C>G | CA377641702 | PLCE1 | c.4268C>G (p.Thr1423Ser) c.*1735C>G (n.*1735C>G) n.1927C>G n.611C>G c.*476C>G (n.*476C>G) c.4220C>G (p.Thr1407Ser) n.9400C>G n.2865C>G c.5060C>G (p.Thr1687Ser) c.5144C>G (p.Thr1715Ser) c.5192C>G (p.Thr1731Ser) c.4166C>G (p.Thr1389Ser) c.3747C>G c.3308C>G (p.Thr1103Ser) c.*1125C>G (n.*1125C>G) c.4461C>G c.4037C>G (p.Thr1346Ser) c.5234C>G (p.Thr1745Ser) c.5231C>G (p.Thr1744Ser) c.5186C>G (p.Thr1729Ser) c.4310C>G (p.Thr1437Ser) c.4079C>G (p.Thr1360Ser) | |
10 | g.94298403C>T | CA377641703 | PLCE1 | c.4268C>T (p.Thr1423Ile) c.*1735C>T (n.*1735C>T) n.1927C>T n.611C>T c.*476C>T (n.*476C>T) c.4220C>T (p.Thr1407Ile) n.9400C>T n.2865C>T c.5060C>T (p.Thr1687Ile) c.5144C>T (p.Thr1715Ile) c.5192C>T (p.Thr1731Ile) c.4166C>T (p.Thr1389Ile) c.3747C>T c.3308C>T (p.Thr1103Ile) c.*1125C>T (n.*1125C>T) c.4461C>T c.4037C>T (p.Thr1346Ile) c.5234C>T (p.Thr1745Ile) c.5231C>T (p.Thr1744Ile) c.5186C>T (p.Thr1729Ile) c.4310C>T (p.Thr1437Ile) c.4079C>T (p.Thr1360Ile) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298404C>A | CA470986411 | PLCE1 | c.4269C>A (p.Thr1423=) c.*1736C>A (n.*1736C>A) n.1928C>A n.612C>A c.*477C>A (n.*477C>A) c.4221C>A (p.Thr1407=) n.9401C>A n.2866C>A c.5061C>A (p.Thr1687=) c.5145C>A (p.Thr1715=) c.5193C>A (p.Thr1731=) c.4167C>A (p.Thr1389=) c.3748C>A c.3309C>A (p.Thr1103=) c.*1126C>A (n.*1126C>A) c.4462C>A c.4038C>A (p.Thr1346=) c.5235C>A (p.Thr1745=) c.5232C>A (p.Thr1744=) c.5187C>A (p.Thr1729=) c.4311C>A (p.Thr1437=) c.4080C>A (p.Thr1360=) | |
10 | g.94298404C= | CA1928998375 | PLCE1 | c.4269C= (p.Thr1423=) c.*1736C= (n.*1736C=) n.1928C= n.612C= c.*477C= (n.*477C=) c.4221C= (p.Thr1407=) n.9401C= n.2866C= c.5061C= (p.Thr1687=) c.5145C= (p.Thr1715=) c.5193C= (p.Thr1731=) c.4167C= (p.Thr1389=) c.3748C= c.3309C= (p.Thr1103=) c.*1126C= (n.*1126C=) c.4462C= c.4038C= (p.Thr1346=) c.5235C= (p.Thr1745=) c.5232C= (p.Thr1744=) c.5187C= (p.Thr1729=) c.4311C= (p.Thr1437=) c.4080C= (p.Thr1360=) | |
10 | g.94298404C>G | CA470986413 | PLCE1 | c.4269C>G (p.Thr1423=) c.*1736C>G (n.*1736C>G) n.1928C>G n.612C>G c.*477C>G (n.*477C>G) c.4221C>G (p.Thr1407=) n.9401C>G n.2866C>G c.5061C>G (p.Thr1687=) c.5145C>G (p.Thr1715=) c.5193C>G (p.Thr1731=) c.4167C>G (p.Thr1389=) c.3748C>G c.3309C>G (p.Thr1103=) c.*1126C>G (n.*1126C>G) c.4462C>G c.4038C>G (p.Thr1346=) c.5235C>G (p.Thr1745=) c.5232C>G (p.Thr1744=) c.5187C>G (p.Thr1729=) c.4311C>G (p.Thr1437=) c.4080C>G (p.Thr1360=) | dbSNP gnomAD v2 |
10 | g.94298404C>T | CA470986412 | PLCE1 | c.4269C>T (p.Thr1423=) c.*1736C>T (n.*1736C>T) n.1928C>T n.612C>T c.*477C>T (n.*477C>T) c.4221C>T (p.Thr1407=) n.9401C>T n.2866C>T c.5061C>T (p.Thr1687=) c.5145C>T (p.Thr1715=) c.5193C>T (p.Thr1731=) c.4167C>T (p.Thr1389=) c.3748C>T c.3309C>T (p.Thr1103=) c.*1126C>T (n.*1126C>T) c.4462C>T c.4038C>T (p.Thr1346=) c.5235C>T (p.Thr1745=) c.5232C>T (p.Thr1744=) c.5187C>T (p.Thr1729=) c.4311C>T (p.Thr1437=) c.4080C>T (p.Thr1360=) | |
10 | g.94298405T>A | CA377641704 | PLCE1 | c.4270T>A (p.Trp1424Arg) c.*1737T>A (n.*1737T>A) n.1929T>A n.613T>A c.*478T>A (n.*478T>A) c.4222T>A (p.Trp1408Arg) n.9402T>A n.2867T>A c.5062T>A (p.Trp1688Arg) c.5146T>A (p.Trp1716Arg) c.5194T>A (p.Trp1732Arg) c.4168T>A (p.Trp1390Arg) c.3749T>A c.3310T>A (p.Trp1104Arg) c.*1127T>A (n.*1127T>A) c.4463T>A c.4039T>A (p.Trp1347Arg) c.5236T>A (p.Trp1746Arg) c.5233T>A (p.Trp1745Arg) c.5188T>A (p.Trp1730Arg) c.4312T>A (p.Trp1438Arg) c.4081T>A (p.Trp1361Arg) | |
10 | g.94298405T>C | CA5613315 | PLCE1 | c.4270T>C (p.Trp1424Arg) c.*1737T>C (n.*1737T>C) n.1929T>C n.613T>C c.*478T>C (n.*478T>C) c.4222T>C (p.Trp1408Arg) n.9402T>C n.2867T>C c.5062T>C (p.Trp1688Arg) c.5146T>C (p.Trp1716Arg) c.5194T>C (p.Trp1732Arg) c.4168T>C (p.Trp1390Arg) c.3749T>C c.3310T>C (p.Trp1104Arg) c.*1127T>C (n.*1127T>C) c.4463T>C c.4039T>C (p.Trp1347Arg) c.5236T>C (p.Trp1746Arg) c.5233T>C (p.Trp1745Arg) c.5188T>C (p.Trp1730Arg) c.4312T>C (p.Trp1438Arg) c.4081T>C (p.Trp1361Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298405T>G | CA377641705 | PLCE1 | c.4270T>G (p.Trp1424Gly) c.*1737T>G (n.*1737T>G) n.1929T>G n.613T>G c.*478T>G (n.*478T>G) c.4222T>G (p.Trp1408Gly) n.9402T>G n.2867T>G c.5062T>G (p.Trp1688Gly) c.5146T>G (p.Trp1716Gly) c.5194T>G (p.Trp1732Gly) c.4168T>G (p.Trp1390Gly) c.3749T>G c.3310T>G (p.Trp1104Gly) c.*1127T>G (n.*1127T>G) c.4463T>G c.4039T>G (p.Trp1347Gly) c.5236T>G (p.Trp1746Gly) c.5233T>G (p.Trp1745Gly) c.5188T>G (p.Trp1730Gly) c.4312T>G (p.Trp1438Gly) c.4081T>G (p.Trp1361Gly) | |
10 | g.94298405T= | CA1928998376 | PLCE1 | c.4270T= (p.Trp1424=) c.*1737T= (n.*1737T=) n.1929T= n.613T= c.*478T= (n.*478T=) c.4222T= (p.Trp1408=) n.9402T= n.2867T= c.5062T= (p.Trp1688=) c.5146T= (p.Trp1716=) c.5194T= (p.Trp1732=) c.4168T= (p.Trp1390=) c.3749T= c.3310T= (p.Trp1104=) c.*1127T= (n.*1127T=) c.4463T= c.4039T= (p.Trp1347=) c.5236T= (p.Trp1746=) c.5233T= (p.Trp1745=) c.5188T= (p.Trp1730=) c.4312T= (p.Trp1438=) c.4081T= (p.Trp1361=) | |
10 | g.94298406G>A | CA377641706 | PLCE1 | c.4271G>A (p.Trp1424Ter) c.*1738G>A (n.*1738G>A) n.1930G>A n.614G>A c.*479G>A (n.*479G>A) c.4223G>A (p.Trp1408Ter) n.9403G>A n.2868G>A c.5063G>A (p.Trp1688Ter) c.5147G>A (p.Trp1716Ter) c.5195G>A (p.Trp1732Ter) c.4169G>A (p.Trp1390Ter) c.3750G>A c.3311G>A (p.Trp1104Ter) c.*1128G>A (n.*1128G>A) c.4464G>A c.4040G>A (p.Trp1347Ter) c.5237G>A (p.Trp1746Ter) c.5234G>A (p.Trp1745Ter) c.5189G>A (p.Trp1730Ter) c.4313G>A (p.Trp1438Ter) c.4082G>A (p.Trp1361Ter) | |
10 | g.94298406G>C | CA377641707 | PLCE1 | c.4271G>C (p.Trp1424Ser) c.*1738G>C (n.*1738G>C) n.1930G>C n.614G>C c.*479G>C (n.*479G>C) c.4223G>C (p.Trp1408Ser) n.9403G>C n.2868G>C c.5063G>C (p.Trp1688Ser) c.5147G>C (p.Trp1716Ser) c.5195G>C (p.Trp1732Ser) c.4169G>C (p.Trp1390Ser) c.3750G>C c.3311G>C (p.Trp1104Ser) c.*1128G>C (n.*1128G>C) c.4464G>C c.4040G>C (p.Trp1347Ser) c.5237G>C (p.Trp1746Ser) c.5234G>C (p.Trp1745Ser) c.5189G>C (p.Trp1730Ser) c.4313G>C (p.Trp1438Ser) c.4082G>C (p.Trp1361Ser) | |
10 | g.94298406G>T | CA377641708 | PLCE1 | c.4271G>T (p.Trp1424Leu) c.*1738G>T (n.*1738G>T) n.1930G>T n.614G>T c.*479G>T (n.*479G>T) c.4223G>T (p.Trp1408Leu) n.9403G>T n.2868G>T c.5063G>T (p.Trp1688Leu) c.5147G>T (p.Trp1716Leu) c.5195G>T (p.Trp1732Leu) c.4169G>T (p.Trp1390Leu) c.3750G>T c.3311G>T (p.Trp1104Leu) c.*1128G>T (n.*1128G>T) c.4464G>T c.4040G>T (p.Trp1347Leu) c.5237G>T (p.Trp1746Leu) c.5234G>T (p.Trp1745Leu) c.5189G>T (p.Trp1730Leu) c.4313G>T (p.Trp1438Leu) c.4082G>T (p.Trp1361Leu) | |
10 | g.94298407G>A | CA377641711 | PLCE1 | c.4272G>A (p.Trp1424Ter) c.*1739G>A (n.*1739G>A) n.1931G>A n.615G>A c.*480G>A (n.*480G>A) c.4224G>A (p.Trp1408Ter) n.9404G>A n.2869G>A c.5064G>A (p.Trp1688Ter) c.5148G>A (p.Trp1716Ter) c.5196G>A (p.Trp1732Ter) c.4170G>A (p.Trp1390Ter) c.3751G>A c.3312G>A (p.Trp1104Ter) c.*1129G>A (n.*1129G>A) c.4465G>A c.4041G>A (p.Trp1347Ter) c.5238G>A (p.Trp1746Ter) c.5235G>A (p.Trp1745Ter) c.5190G>A (p.Trp1730Ter) c.4314G>A (p.Trp1438Ter) c.4083G>A (p.Trp1361Ter) | |
10 | g.94298407G>C | CA377641710 | PLCE1 | c.4272G>C (p.Trp1424Cys) c.*1739G>C (n.*1739G>C) n.1931G>C n.615G>C c.*480G>C (n.*480G>C) c.4224G>C (p.Trp1408Cys) n.9404G>C n.2869G>C c.5064G>C (p.Trp1688Cys) c.5148G>C (p.Trp1716Cys) c.5196G>C (p.Trp1732Cys) c.4170G>C (p.Trp1390Cys) c.3751G>C c.3312G>C (p.Trp1104Cys) c.*1129G>C (n.*1129G>C) c.4465G>C c.4041G>C (p.Trp1347Cys) c.5238G>C (p.Trp1746Cys) c.5235G>C (p.Trp1745Cys) c.5190G>C (p.Trp1730Cys) c.4314G>C (p.Trp1438Cys) c.4083G>C (p.Trp1361Cys) | |
10 | g.94298407G>T | CA377641709 | PLCE1 | c.4272G>T (p.Trp1424Cys) c.*1739G>T (n.*1739G>T) n.1931G>T n.615G>T c.*480G>T (n.*480G>T) c.4224G>T (p.Trp1408Cys) n.9404G>T n.2869G>T c.5064G>T (p.Trp1688Cys) c.5148G>T (p.Trp1716Cys) c.5196G>T (p.Trp1732Cys) c.4170G>T (p.Trp1390Cys) c.3751G>T c.3312G>T (p.Trp1104Cys) c.*1129G>T (n.*1129G>T) c.4465G>T c.4041G>T (p.Trp1347Cys) c.5238G>T (p.Trp1746Cys) c.5235G>T (p.Trp1745Cys) c.5190G>T (p.Trp1730Cys) c.4314G>T (p.Trp1438Cys) c.4083G>T (p.Trp1361Cys) | |
10 | g.94298408G>A | CA377641712 | PLCE1 | c.4273G>A (p.Glu1425Lys) c.*1740G>A (n.*1740G>A) n.1932G>A n.616G>A c.*481G>A (n.*481G>A) c.4225G>A (p.Glu1409Lys) n.9405G>A n.2870G>A c.5065G>A (p.Glu1689Lys) c.5149G>A (p.Glu1717Lys) c.5197G>A (p.Glu1733Lys) c.4171G>A (p.Glu1391Lys) c.3752G>A c.3313G>A (p.Glu1105Lys) c.*1130G>A (n.*1130G>A) c.4466G>A c.4042G>A (p.Glu1348Lys) c.5239G>A (p.Glu1747Lys) c.5236G>A (p.Glu1746Lys) c.5191G>A (p.Glu1731Lys) c.4315G>A (p.Glu1439Lys) c.4084G>A (p.Glu1362Lys) | dbSNP |
10 | g.94298408G>C | CA377641714 | PLCE1 | c.4273G>C (p.Glu1425Gln) c.*1740G>C (n.*1740G>C) n.1932G>C n.616G>C c.*481G>C (n.*481G>C) c.4225G>C (p.Glu1409Gln) n.9405G>C n.2870G>C c.5065G>C (p.Glu1689Gln) c.5149G>C (p.Glu1717Gln) c.5197G>C (p.Glu1733Gln) c.4171G>C (p.Glu1391Gln) c.3752G>C c.3313G>C (p.Glu1105Gln) c.*1130G>C (n.*1130G>C) c.4466G>C c.4042G>C (p.Glu1348Gln) c.5239G>C (p.Glu1747Gln) c.5236G>C (p.Glu1746Gln) c.5191G>C (p.Glu1731Gln) c.4315G>C (p.Glu1439Gln) c.4084G>C (p.Glu1362Gln) | gnomAD v4 |
10 | g.94298408G= | CA1928998377 | PLCE1 | c.4273G= (p.Glu1425=) c.*1740G= (n.*1740G=) n.1932G= n.616G= c.*481G= (n.*481G=) c.4225G= (p.Glu1409=) n.9405G= n.2870G= c.5065G= (p.Glu1689=) c.5149G= (p.Glu1717=) c.5197G= (p.Glu1733=) c.4171G= (p.Glu1391=) c.3752G= c.3313G= (p.Glu1105=) c.*1130G= (n.*1130G=) c.4466G= c.4042G= (p.Glu1348=) c.5239G= (p.Glu1747=) c.5236G= (p.Glu1746=) c.5191G= (p.Glu1731=) c.4315G= (p.Glu1439=) c.4084G= (p.Glu1362=) | |
10 | g.94298408G>T | CA377641713 | PLCE1 | c.4273G>T (p.Glu1425Ter) c.*1740G>T (n.*1740G>T) n.1932G>T n.616G>T c.*481G>T (n.*481G>T) c.4225G>T (p.Glu1409Ter) n.9405G>T n.2870G>T c.5065G>T (p.Glu1689Ter) c.5149G>T (p.Glu1717Ter) c.5197G>T (p.Glu1733Ter) c.4171G>T (p.Glu1391Ter) c.3752G>T c.3313G>T (p.Glu1105Ter) c.*1130G>T (n.*1130G>T) c.4466G>T c.4042G>T (p.Glu1348Ter) c.5239G>T (p.Glu1747Ter) c.5236G>T (p.Glu1746Ter) c.5191G>T (p.Glu1731Ter) c.4315G>T (p.Glu1439Ter) c.4084G>T (p.Glu1362Ter) | |
10 | g.94298409A= | CA1928998378 | PLCE1 | c.4274A= (p.Glu1425=) c.*1741A= (n.*1741A=) n.1933A= n.617A= c.*482A= (n.*482A=) c.4226A= (p.Glu1409=) n.9406A= n.2871A= c.5066A= (p.Glu1689=) c.5150A= (p.Glu1717=) c.5198A= (p.Glu1733=) c.4172A= (p.Glu1391=) c.3753A= c.3314A= (p.Glu1105=) c.*1131A= (n.*1131A=) c.4467A= c.4043A= (p.Glu1348=) c.5240A= (p.Glu1747=) c.5237A= (p.Glu1746=) c.5192A= (p.Glu1731=) c.4316A= (p.Glu1439=) c.4085A= (p.Glu1362=) | |
10 | g.94298409A>C | CA377641715 | PLCE1 | c.4274A>C (p.Glu1425Ala) c.*1741A>C (n.*1741A>C) n.1933A>C n.617A>C c.*482A>C (n.*482A>C) c.4226A>C (p.Glu1409Ala) n.9406A>C n.2871A>C c.5066A>C (p.Glu1689Ala) c.5150A>C (p.Glu1717Ala) c.5198A>C (p.Glu1733Ala) c.4172A>C (p.Glu1391Ala) c.3753A>C c.3314A>C (p.Glu1105Ala) c.*1131A>C (n.*1131A>C) c.4467A>C c.4043A>C (p.Glu1348Ala) c.5240A>C (p.Glu1747Ala) c.5237A>C (p.Glu1746Ala) c.5192A>C (p.Glu1731Ala) c.4316A>C (p.Glu1439Ala) c.4085A>C (p.Glu1362Ala) | |
10 | g.94298409A>G | CA377641716 | PLCE1 | c.4274A>G (p.Glu1425Gly) c.*1741A>G (n.*1741A>G) n.1933A>G n.617A>G c.*482A>G (n.*482A>G) c.4226A>G (p.Glu1409Gly) n.9406A>G n.2871A>G c.5066A>G (p.Glu1689Gly) c.5150A>G (p.Glu1717Gly) c.5198A>G (p.Glu1733Gly) c.4172A>G (p.Glu1391Gly) c.3753A>G c.3314A>G (p.Glu1105Gly) c.*1131A>G (n.*1131A>G) c.4467A>G c.4043A>G (p.Glu1348Gly) c.5240A>G (p.Glu1747Gly) c.5237A>G (p.Glu1746Gly) c.5192A>G (p.Glu1731Gly) c.4316A>G (p.Glu1439Gly) c.4085A>G (p.Glu1362Gly) | dbSNP |
10 | g.94298409A>T | CA377641717 | PLCE1 | c.4274A>T (p.Glu1425Val) c.*1741A>T (n.*1741A>T) n.1933A>T n.617A>T c.*482A>T (n.*482A>T) c.4226A>T (p.Glu1409Val) n.9406A>T n.2871A>T c.5066A>T (p.Glu1689Val) c.5150A>T (p.Glu1717Val) c.5198A>T (p.Glu1733Val) c.4172A>T (p.Glu1391Val) c.3753A>T c.3314A>T (p.Glu1105Val) c.*1131A>T (n.*1131A>T) c.4467A>T c.4043A>T (p.Glu1348Val) c.5240A>T (p.Glu1747Val) c.5237A>T (p.Glu1746Val) c.5192A>T (p.Glu1731Val) c.4316A>T (p.Glu1439Val) c.4085A>T (p.Glu1362Val) | |
10 | g.94298410G>A | CA470986414 | PLCE1 | c.4275G>A (p.Glu1425=) c.*1742G>A (n.*1742G>A) n.1934G>A n.618G>A c.*483G>A (n.*483G>A) c.4227G>A (p.Glu1409=) n.9407G>A n.2872G>A c.5067G>A (p.Glu1689=) c.5151G>A (p.Glu1717=) c.5199G>A (p.Glu1733=) c.4173G>A (p.Glu1391=) c.3754G>A c.3315G>A (p.Glu1105=) c.*1132G>A (n.*1132G>A) c.4468G>A c.4044G>A (p.Glu1348=) c.5241G>A (p.Glu1747=) c.5238G>A (p.Glu1746=) c.5193G>A (p.Glu1731=) c.4317G>A (p.Glu1439=) c.4086G>A (p.Glu1362=) | |
10 | g.94298410G>C | CA377641718 | PLCE1 | c.4275G>C (p.Glu1425Asp) c.*1742G>C (n.*1742G>C) n.1934G>C n.618G>C c.*483G>C (n.*483G>C) c.4227G>C (p.Glu1409Asp) n.9407G>C n.2872G>C c.5067G>C (p.Glu1689Asp) c.5151G>C (p.Glu1717Asp) c.5199G>C (p.Glu1733Asp) c.4173G>C (p.Glu1391Asp) c.3754G>C c.3315G>C (p.Glu1105Asp) c.*1132G>C (n.*1132G>C) c.4468G>C c.4044G>C (p.Glu1348Asp) c.5241G>C (p.Glu1747Asp) c.5238G>C (p.Glu1746Asp) c.5193G>C (p.Glu1731Asp) c.4317G>C (p.Glu1439Asp) c.4086G>C (p.Glu1362Asp) | |
10 | g.94298410G>T | CA377641719 | PLCE1 | c.4275G>T (p.Glu1425Asp) c.*1742G>T (n.*1742G>T) n.1934G>T n.618G>T c.*483G>T (n.*483G>T) c.4227G>T (p.Glu1409Asp) n.9407G>T n.2872G>T c.5067G>T (p.Glu1689Asp) c.5151G>T (p.Glu1717Asp) c.5199G>T (p.Glu1733Asp) c.4173G>T (p.Glu1391Asp) c.3754G>T c.3315G>T (p.Glu1105Asp) c.*1132G>T (n.*1132G>T) c.4468G>T c.4044G>T (p.Glu1348Asp) c.5241G>T (p.Glu1747Asp) c.5238G>T (p.Glu1746Asp) c.5193G>T (p.Glu1731Asp) c.4317G>T (p.Glu1439Asp) c.4086G>T (p.Glu1362Asp) | |
10 | g.94298411G>A | CA211599559 | PLCE1 | c.4276G>A (p.Glu1426Lys) c.*1743G>A (n.*1743G>A) n.1935G>A n.619G>A c.*484G>A (n.*484G>A) c.4228G>A (p.Glu1410Lys) n.9408G>A n.2873G>A c.5068G>A (p.Glu1690Lys) c.5152G>A (p.Glu1718Lys) c.5200G>A (p.Glu1734Lys) c.4174G>A (p.Glu1392Lys) c.3755G>A c.3316G>A (p.Glu1106Lys) c.*1133G>A (n.*1133G>A) c.4469G>A c.4045G>A (p.Glu1349Lys) c.5242G>A (p.Glu1748Lys) c.5239G>A (p.Glu1747Lys) c.5194G>A (p.Glu1732Lys) c.4318G>A (p.Glu1440Lys) c.4087G>A (p.Glu1363Lys) | dbSNP |
10 | g.94298411G>C | CA377641720 | PLCE1 | c.4276G>C (p.Glu1426Gln) c.*1743G>C (n.*1743G>C) n.1935G>C n.619G>C c.*484G>C (n.*484G>C) c.4228G>C (p.Glu1410Gln) n.9408G>C n.2873G>C c.5068G>C (p.Glu1690Gln) c.5152G>C (p.Glu1718Gln) c.5200G>C (p.Glu1734Gln) c.4174G>C (p.Glu1392Gln) c.3755G>C c.3316G>C (p.Glu1106Gln) c.*1133G>C (n.*1133G>C) c.4469G>C c.4045G>C (p.Glu1349Gln) c.5242G>C (p.Glu1748Gln) c.5239G>C (p.Glu1747Gln) c.5194G>C (p.Glu1732Gln) c.4318G>C (p.Glu1440Gln) c.4087G>C (p.Glu1363Gln) | |
10 | g.94298411G= | CA1928998379 | PLCE1 | c.4276G= (p.Glu1426=) c.*1743G= (n.*1743G=) n.1935G= n.619G= c.*484G= (n.*484G=) c.4228G= (p.Glu1410=) n.9408G= n.2873G= c.5068G= (p.Glu1690=) c.5152G= (p.Glu1718=) c.5200G= (p.Glu1734=) c.4174G= (p.Glu1392=) c.3755G= c.3316G= (p.Glu1106=) c.*1133G= (n.*1133G=) c.4469G= c.4045G= (p.Glu1349=) c.5242G= (p.Glu1748=) c.5239G= (p.Glu1747=) c.5194G= (p.Glu1732=) c.4318G= (p.Glu1440=) c.4087G= (p.Glu1363=) | |
10 | g.94298411G>T | CA377641721 | PLCE1 | c.4276G>T (p.Glu1426Ter) c.*1743G>T (n.*1743G>T) n.1935G>T n.619G>T c.*484G>T (n.*484G>T) c.4228G>T (p.Glu1410Ter) n.9408G>T n.2873G>T c.5068G>T (p.Glu1690Ter) c.5152G>T (p.Glu1718Ter) c.5200G>T (p.Glu1734Ter) c.4174G>T (p.Glu1392Ter) c.3755G>T c.3316G>T (p.Glu1106Ter) c.*1133G>T (n.*1133G>T) c.4469G>T c.4045G>T (p.Glu1349Ter) c.5242G>T (p.Glu1748Ter) c.5239G>T (p.Glu1747Ter) c.5194G>T (p.Glu1732Ter) c.4318G>T (p.Glu1440Ter) c.4087G>T (p.Glu1363Ter) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298412A= | CA1928998380 | PLCE1 | c.4277A= (p.Glu1426=) c.*1744A= (n.*1744A=) n.1936A= n.620A= c.*485A= (n.*485A=) c.4229A= (p.Glu1410=) n.9409A= n.2874A= c.5069A= (p.Glu1690=) c.5153A= (p.Glu1718=) c.5201A= (p.Glu1734=) c.4175A= (p.Glu1392=) c.3756A= c.3317A= (p.Glu1106=) c.*1134A= (n.*1134A=) c.4470A= c.4046A= (p.Glu1349=) c.5243A= (p.Glu1748=) c.5240A= (p.Glu1747=) c.5195A= (p.Glu1732=) c.4319A= (p.Glu1440=) c.4088A= (p.Glu1363=) | |
10 | g.94298412A>C | CA377641722 | PLCE1 | c.4277A>C (p.Glu1426Ala) c.*1744A>C (n.*1744A>C) n.1936A>C n.620A>C c.*485A>C (n.*485A>C) c.4229A>C (p.Glu1410Ala) n.9409A>C n.2874A>C c.5069A>C (p.Glu1690Ala) c.5153A>C (p.Glu1718Ala) c.5201A>C (p.Glu1734Ala) c.4175A>C (p.Glu1392Ala) c.3756A>C c.3317A>C (p.Glu1106Ala) c.*1134A>C (n.*1134A>C) c.4470A>C c.4046A>C (p.Glu1349Ala) c.5243A>C (p.Glu1748Ala) c.5240A>C (p.Glu1747Ala) c.5195A>C (p.Glu1732Ala) c.4319A>C (p.Glu1440Ala) c.4088A>C (p.Glu1363Ala) | |
10 | g.94298412A>G | CA377641723 | PLCE1 | c.4277A>G (p.Glu1426Gly) c.*1744A>G (n.*1744A>G) n.1936A>G n.620A>G c.*485A>G (n.*485A>G) c.4229A>G (p.Glu1410Gly) n.9409A>G n.2874A>G c.5069A>G (p.Glu1690Gly) c.5153A>G (p.Glu1718Gly) c.5201A>G (p.Glu1734Gly) c.4175A>G (p.Glu1392Gly) c.3756A>G c.3317A>G (p.Glu1106Gly) c.*1134A>G (n.*1134A>G) c.4470A>G c.4046A>G (p.Glu1349Gly) c.5243A>G (p.Glu1748Gly) c.5240A>G (p.Glu1747Gly) c.5195A>G (p.Glu1732Gly) c.4319A>G (p.Glu1440Gly) c.4088A>G (p.Glu1363Gly) | |
10 | g.94298412A>T | CA377641724 | PLCE1 | c.4277A>T (p.Glu1426Val) c.*1744A>T (n.*1744A>T) n.1936A>T n.620A>T c.*485A>T (n.*485A>T) c.4229A>T (p.Glu1410Val) n.9409A>T n.2874A>T c.5069A>T (p.Glu1690Val) c.5153A>T (p.Glu1718Val) c.5201A>T (p.Glu1734Val) c.4175A>T (p.Glu1392Val) c.3756A>T c.3317A>T (p.Glu1106Val) c.*1134A>T (n.*1134A>T) c.4470A>T c.4046A>T (p.Glu1349Val) c.5243A>T (p.Glu1748Val) c.5240A>T (p.Glu1747Val) c.5195A>T (p.Glu1732Val) c.4319A>T (p.Glu1440Val) c.4088A>T (p.Glu1363Val) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298413A>C | CA377641725 | PLCE1 | c.4278A>C (p.Glu1426Asp) c.*1745A>C (n.*1745A>C) n.1937A>C n.621A>C c.*486A>C (n.*486A>C) c.4230A>C (p.Glu1410Asp) n.9410A>C n.2875A>C c.5070A>C (p.Glu1690Asp) c.5154A>C (p.Glu1718Asp) c.5202A>C (p.Glu1734Asp) c.4176A>C (p.Glu1392Asp) c.3757A>C c.3318A>C (p.Glu1106Asp) c.*1135A>C (n.*1135A>C) c.4471A>C c.4047A>C (p.Glu1349Asp) c.5244A>C (p.Glu1748Asp) c.5241A>C (p.Glu1747Asp) c.5196A>C (p.Glu1732Asp) c.4320A>C (p.Glu1440Asp) c.4089A>C (p.Glu1363Asp) | |
10 | g.94298413A>G | CA470986415 | PLCE1 | c.4278A>G (p.Glu1426=) c.*1745A>G (n.*1745A>G) n.1937A>G n.621A>G c.*486A>G (n.*486A>G) c.4230A>G (p.Glu1410=) n.9410A>G n.2875A>G c.5070A>G (p.Glu1690=) c.5154A>G (p.Glu1718=) c.5202A>G (p.Glu1734=) c.4176A>G (p.Glu1392=) c.3757A>G c.3318A>G (p.Glu1106=) c.*1135A>G (n.*1135A>G) c.4471A>G c.4047A>G (p.Glu1349=) c.5244A>G (p.Glu1748=) c.5241A>G (p.Glu1747=) c.5196A>G (p.Glu1732=) c.4320A>G (p.Glu1440=) c.4089A>G (p.Glu1363=) | |
10 | g.94298413A>T | CA377641726 | PLCE1 | c.4278A>T (p.Glu1426Asp) c.*1745A>T (n.*1745A>T) n.1937A>T n.621A>T c.*486A>T (n.*486A>T) c.4230A>T (p.Glu1410Asp) n.9410A>T n.2875A>T c.5070A>T (p.Glu1690Asp) c.5154A>T (p.Glu1718Asp) c.5202A>T (p.Glu1734Asp) c.4176A>T (p.Glu1392Asp) c.3757A>T c.3318A>T (p.Glu1106Asp) c.*1135A>T (n.*1135A>T) c.4471A>T c.4047A>T (p.Glu1349Asp) c.5244A>T (p.Glu1748Asp) c.5241A>T (p.Glu1747Asp) c.5196A>T (p.Glu1732Asp) c.4320A>T (p.Glu1440Asp) c.4089A>T (p.Glu1363Asp) | |
10 | g.94298414T>A | CA377641729 | PLCE1 | c.4279T>A (p.Ser1427Thr) c.*1746T>A (n.*1746T>A) n.1938T>A n.622T>A c.*487T>A (n.*487T>A) c.4231T>A (p.Ser1411Thr) n.9411T>A n.2876T>A c.5071T>A (p.Ser1691Thr) c.5155T>A (p.Ser1719Thr) c.5203T>A (p.Ser1735Thr) c.4177T>A (p.Ser1393Thr) c.3758T>A c.3319T>A (p.Ser1107Thr) c.*1136T>A (n.*1136T>A) c.4472T>A c.4048T>A (p.Ser1350Thr) c.5245T>A (p.Ser1749Thr) c.5242T>A (p.Ser1748Thr) c.5197T>A (p.Ser1733Thr) c.4321T>A (p.Ser1441Thr) c.4090T>A (p.Ser1364Thr) | COSMIC COSMIC COSMIC COSMIC |
10 | g.94298414T>C | CA377641727 | PLCE1 | c.4279T>C (p.Ser1427Pro) c.*1746T>C (n.*1746T>C) n.1938T>C n.622T>C c.*487T>C (n.*487T>C) c.4231T>C (p.Ser1411Pro) n.9411T>C n.2876T>C c.5071T>C (p.Ser1691Pro) c.5155T>C (p.Ser1719Pro) c.5203T>C (p.Ser1735Pro) c.4177T>C (p.Ser1393Pro) c.3758T>C c.3319T>C (p.Ser1107Pro) c.*1136T>C (n.*1136T>C) c.4472T>C c.4048T>C (p.Ser1350Pro) c.5245T>C (p.Ser1749Pro) c.5242T>C (p.Ser1748Pro) c.5197T>C (p.Ser1733Pro) c.4321T>C (p.Ser1441Pro) c.4090T>C (p.Ser1364Pro) | |
10 | g.94298414T>G | CA377641728 | PLCE1 | c.4279T>G (p.Ser1427Ala) c.*1746T>G (n.*1746T>G) n.1938T>G n.622T>G c.*487T>G (n.*487T>G) c.4231T>G (p.Ser1411Ala) n.9411T>G n.2876T>G c.5071T>G (p.Ser1691Ala) c.5155T>G (p.Ser1719Ala) c.5203T>G (p.Ser1735Ala) c.4177T>G (p.Ser1393Ala) c.3758T>G c.3319T>G (p.Ser1107Ala) c.*1136T>G (n.*1136T>G) c.4472T>G c.4048T>G (p.Ser1350Ala) c.5245T>G (p.Ser1749Ala) c.5242T>G (p.Ser1748Ala) c.5197T>G (p.Ser1733Ala) c.4321T>G (p.Ser1441Ala) c.4090T>G (p.Ser1364Ala) | |
10 | g.94298415C>A | CA377641730 | PLCE1 | c.4280C>A (p.Ser1427Tyr) c.*1747C>A (n.*1747C>A) n.1939C>A n.623C>A c.*488C>A (n.*488C>A) c.4232C>A (p.Ser1411Tyr) n.9412C>A n.2877C>A c.5072C>A (p.Ser1691Tyr) c.5156C>A (p.Ser1719Tyr) c.5204C>A (p.Ser1735Tyr) c.4178C>A (p.Ser1393Tyr) c.3759C>A c.3320C>A (p.Ser1107Tyr) c.*1137C>A (n.*1137C>A) c.4473C>A c.4049C>A (p.Ser1350Tyr) c.5246C>A (p.Ser1749Tyr) c.5243C>A (p.Ser1748Tyr) c.5198C>A (p.Ser1733Tyr) c.4322C>A (p.Ser1441Tyr) c.4091C>A (p.Ser1364Tyr) | COSMIC COSMIC COSMIC COSMIC |
10 | g.94298415C>G | CA377641731 | PLCE1 | c.4280C>G (p.Ser1427Cys) c.*1747C>G (n.*1747C>G) n.1939C>G n.623C>G c.*488C>G (n.*488C>G) c.4232C>G (p.Ser1411Cys) n.9412C>G n.2877C>G c.5072C>G (p.Ser1691Cys) c.5156C>G (p.Ser1719Cys) c.5204C>G (p.Ser1735Cys) c.4178C>G (p.Ser1393Cys) c.3759C>G c.3320C>G (p.Ser1107Cys) c.*1137C>G (n.*1137C>G) c.4473C>G c.4049C>G (p.Ser1350Cys) c.5246C>G (p.Ser1749Cys) c.5243C>G (p.Ser1748Cys) c.5198C>G (p.Ser1733Cys) c.4322C>G (p.Ser1441Cys) c.4091C>G (p.Ser1364Cys) | |
10 | g.94298415C>T | CA377641732 | PLCE1 | c.4280C>T (p.Ser1427Phe) c.*1747C>T (n.*1747C>T) n.1939C>T n.623C>T c.*488C>T (n.*488C>T) c.4232C>T (p.Ser1411Phe) n.9412C>T n.2877C>T c.5072C>T (p.Ser1691Phe) c.5156C>T (p.Ser1719Phe) c.5204C>T (p.Ser1735Phe) c.4178C>T (p.Ser1393Phe) c.3759C>T c.3320C>T (p.Ser1107Phe) c.*1137C>T (n.*1137C>T) c.4473C>T c.4049C>T (p.Ser1350Phe) c.5246C>T (p.Ser1749Phe) c.5243C>T (p.Ser1748Phe) c.5198C>T (p.Ser1733Phe) c.4322C>T (p.Ser1441Phe) c.4091C>T (p.Ser1364Phe) | |
10 | g.94298416T>A | CA5613317 | PLCE1 | c.4281T>A (p.Ser1427=) c.*1748T>A (n.*1748T>A) n.1940T>A n.624T>A c.*489T>A (n.*489T>A) c.4233T>A (p.Ser1411=) n.9413T>A n.2878T>A c.5073T>A (p.Ser1691=) c.5157T>A (p.Ser1719=) c.5205T>A (p.Ser1735=) c.4179T>A (p.Ser1393=) c.3760T>A c.3321T>A (p.Ser1107=) c.*1138T>A (n.*1138T>A) c.4474T>A c.4050T>A (p.Ser1350=) c.5247T>A (p.Ser1749=) c.5244T>A (p.Ser1748=) c.5199T>A (p.Ser1733=) c.4323T>A (p.Ser1441=) c.4092T>A (p.Ser1364=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298416T>C | CA5613316 | PLCE1 | c.4281T>C (p.Ser1427=) c.*1748T>C (n.*1748T>C) n.1940T>C n.624T>C c.*489T>C (n.*489T>C) c.4233T>C (p.Ser1411=) n.9413T>C n.2878T>C c.5073T>C (p.Ser1691=) c.5157T>C (p.Ser1719=) c.5205T>C (p.Ser1735=) c.4179T>C (p.Ser1393=) c.3760T>C c.3321T>C (p.Ser1107=) c.*1138T>C (n.*1138T>C) c.4474T>C c.4050T>C (p.Ser1350=) c.5247T>C (p.Ser1749=) c.5244T>C (p.Ser1748=) c.5199T>C (p.Ser1733=) c.4323T>C (p.Ser1441=) c.4092T>C (p.Ser1364=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298416T>G | CA470986416 | PLCE1 | c.4281T>G (p.Ser1427=) c.*1748T>G (n.*1748T>G) n.1940T>G n.624T>G c.*489T>G (n.*489T>G) c.4233T>G (p.Ser1411=) n.9413T>G n.2878T>G c.5073T>G (p.Ser1691=) c.5157T>G (p.Ser1719=) c.5205T>G (p.Ser1735=) c.4179T>G (p.Ser1393=) c.3760T>G c.3321T>G (p.Ser1107=) c.*1138T>G (n.*1138T>G) c.4474T>G c.4050T>G (p.Ser1350=) c.5247T>G (p.Ser1749=) c.5244T>G (p.Ser1748=) c.5199T>G (p.Ser1733=) c.4323T>G (p.Ser1441=) c.4092T>G (p.Ser1364=) | |
10 | g.94298416T= | CA1928998381 | PLCE1 | c.4281T= (p.Ser1427=) c.*1748T= (n.*1748T=) n.1940T= n.624T= c.*489T= (n.*489T=) c.4233T= (p.Ser1411=) n.9413T= n.2878T= c.5073T= (p.Ser1691=) c.5157T= (p.Ser1719=) c.5205T= (p.Ser1735=) c.4179T= (p.Ser1393=) c.3760T= c.3321T= (p.Ser1107=) c.*1138T= (n.*1138T=) c.4474T= c.4050T= (p.Ser1350=) c.5247T= (p.Ser1749=) c.5244T= (p.Ser1748=) c.5199T= (p.Ser1733=) c.4323T= (p.Ser1441=) c.4092T= (p.Ser1364=) | |
10 | g.94298417T>A | CA377641733 | PLCE1 | c.4282T>A (p.Ser1428Thr) c.*1749T>A (n.*1749T>A) n.1941T>A n.625T>A c.*490T>A (n.*490T>A) c.4234T>A (p.Ser1412Thr) n.9414T>A n.2879T>A c.5074T>A (p.Ser1692Thr) c.5158T>A (p.Ser1720Thr) c.5206T>A (p.Ser1736Thr) c.4180T>A (p.Ser1394Thr) c.3761T>A c.3322T>A (p.Ser1108Thr) c.*1139T>A (n.*1139T>A) c.4475T>A c.4051T>A (p.Ser1351Thr) c.5248T>A (p.Ser1750Thr) c.5245T>A (p.Ser1749Thr) c.5200T>A (p.Ser1734Thr) c.4324T>A (p.Ser1442Thr) c.4093T>A (p.Ser1365Thr) | |
10 | g.94298417T>C | CA377641734 | PLCE1 | c.4282T>C (p.Ser1428Pro) c.*1749T>C (n.*1749T>C) n.1941T>C n.625T>C c.*490T>C (n.*490T>C) c.4234T>C (p.Ser1412Pro) n.9414T>C n.2879T>C c.5074T>C (p.Ser1692Pro) c.5158T>C (p.Ser1720Pro) c.5206T>C (p.Ser1736Pro) c.4180T>C (p.Ser1394Pro) c.3761T>C c.3322T>C (p.Ser1108Pro) c.*1139T>C (n.*1139T>C) c.4475T>C c.4051T>C (p.Ser1351Pro) c.5248T>C (p.Ser1750Pro) c.5245T>C (p.Ser1749Pro) c.5200T>C (p.Ser1734Pro) c.4324T>C (p.Ser1442Pro) c.4093T>C (p.Ser1365Pro) | |
10 | g.94298417T>G | CA5613318 | PLCE1 | c.4282T>G (p.Ser1428Ala) c.*1749T>G (n.*1749T>G) n.1941T>G n.625T>G c.*490T>G (n.*490T>G) c.4234T>G (p.Ser1412Ala) n.9414T>G n.2879T>G c.5074T>G (p.Ser1692Ala) c.5158T>G (p.Ser1720Ala) c.5206T>G (p.Ser1736Ala) c.4180T>G (p.Ser1394Ala) c.3761T>G c.3322T>G (p.Ser1108Ala) c.*1139T>G (n.*1139T>G) c.4475T>G c.4051T>G (p.Ser1351Ala) c.5248T>G (p.Ser1750Ala) c.5245T>G (p.Ser1749Ala) c.5200T>G (p.Ser1734Ala) c.4324T>G (p.Ser1442Ala) c.4093T>G (p.Ser1365Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298417T= | CA1928998382 | PLCE1 | c.4282T= (p.Ser1428=) c.*1749T= (n.*1749T=) n.1941T= n.625T= c.*490T= (n.*490T=) c.4234T= (p.Ser1412=) n.9414T= n.2879T= c.5074T= (p.Ser1692=) c.5158T= (p.Ser1720=) c.5206T= (p.Ser1736=) c.4180T= (p.Ser1394=) c.3761T= c.3322T= (p.Ser1108=) c.*1139T= (n.*1139T=) c.4475T= c.4051T= (p.Ser1351=) c.5248T= (p.Ser1750=) c.5245T= (p.Ser1749=) c.5200T= (p.Ser1734=) c.4324T= (p.Ser1442=) c.4093T= (p.Ser1365=) | |
10 | g.94298418C>A | CA377641735 | PLCE1 | c.4283C>A (p.Ser1428Tyr) c.*1750C>A (n.*1750C>A) n.1942C>A n.626C>A c.*491C>A (n.*491C>A) c.4235C>A (p.Ser1412Tyr) n.9415C>A n.2880C>A c.5075C>A (p.Ser1692Tyr) c.5159C>A (p.Ser1720Tyr) c.5207C>A (p.Ser1736Tyr) c.4181C>A (p.Ser1394Tyr) c.3762C>A c.3323C>A (p.Ser1108Tyr) c.*1140C>A (n.*1140C>A) c.4476C>A c.4052C>A (p.Ser1351Tyr) c.5249C>A (p.Ser1750Tyr) c.5246C>A (p.Ser1749Tyr) c.5201C>A (p.Ser1734Tyr) c.4325C>A (p.Ser1442Tyr) c.4094C>A (p.Ser1365Tyr) | |
10 | g.94298418C= | CA1928998383 | PLCE1 | c.4283C= (p.Ser1428=) c.*1750C= (n.*1750C=) n.1942C= n.626C= c.*491C= (n.*491C=) c.4235C= (p.Ser1412=) n.9415C= n.2880C= c.5075C= (p.Ser1692=) c.5159C= (p.Ser1720=) c.5207C= (p.Ser1736=) c.4181C= (p.Ser1394=) c.3762C= c.3323C= (p.Ser1108=) c.*1140C= (n.*1140C=) c.4476C= c.4052C= (p.Ser1351=) c.5249C= (p.Ser1750=) c.5246C= (p.Ser1749=) c.5201C= (p.Ser1734=) c.4325C= (p.Ser1442=) c.4094C= (p.Ser1365=) | |
10 | g.94298418C>G | CA377641736 | PLCE1 | c.4283C>G (p.Ser1428Cys) c.*1750C>G (n.*1750C>G) n.1942C>G n.626C>G c.*491C>G (n.*491C>G) c.4235C>G (p.Ser1412Cys) n.9415C>G n.2880C>G c.5075C>G (p.Ser1692Cys) c.5159C>G (p.Ser1720Cys) c.5207C>G (p.Ser1736Cys) c.4181C>G (p.Ser1394Cys) c.3762C>G c.3323C>G (p.Ser1108Cys) c.*1140C>G (n.*1140C>G) c.4476C>G c.4052C>G (p.Ser1351Cys) c.5249C>G (p.Ser1750Cys) c.5246C>G (p.Ser1749Cys) c.5201C>G (p.Ser1734Cys) c.4325C>G (p.Ser1442Cys) c.4094C>G (p.Ser1365Cys) | |
10 | g.94298418C>T | CA377641737 | PLCE1 | c.4283C>T (p.Ser1428Phe) c.*1750C>T (n.*1750C>T) n.1942C>T n.626C>T c.*491C>T (n.*491C>T) c.4235C>T (p.Ser1412Phe) n.9415C>T n.2880C>T c.5075C>T (p.Ser1692Phe) c.5159C>T (p.Ser1720Phe) c.5207C>T (p.Ser1736Phe) c.4181C>T (p.Ser1394Phe) c.3762C>T c.3323C>T (p.Ser1108Phe) c.*1140C>T (n.*1140C>T) c.4476C>T c.4052C>T (p.Ser1351Phe) c.5249C>T (p.Ser1750Phe) c.5246C>T (p.Ser1749Phe) c.5201C>T (p.Ser1734Phe) c.4325C>T (p.Ser1442Phe) c.4094C>T (p.Ser1365Phe) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298419T>A | CA470986420 | PLCE1 | c.4284T>A (p.Ser1428=) c.*1751T>A (n.*1751T>A) n.1943T>A n.627T>A c.*492T>A (n.*492T>A) c.4236T>A (p.Ser1412=) n.9416T>A n.2881T>A c.5076T>A (p.Ser1692=) c.5160T>A (p.Ser1720=) c.5208T>A (p.Ser1736=) c.4182T>A (p.Ser1394=) c.3763T>A c.3324T>A (p.Ser1108=) c.*1141T>A (n.*1141T>A) c.4477T>A c.4053T>A (p.Ser1351=) c.5250T>A (p.Ser1750=) c.5247T>A (p.Ser1749=) c.5202T>A (p.Ser1734=) c.4326T>A (p.Ser1442=) c.4095T>A (p.Ser1365=) | |
10 | g.94298419T>C | CA470986421 | PLCE1 | c.4284T>C (p.Ser1428=) c.*1751T>C (n.*1751T>C) n.1943T>C n.627T>C c.*492T>C (n.*492T>C) c.4236T>C (p.Ser1412=) n.9416T>C n.2881T>C c.5076T>C (p.Ser1692=) c.5160T>C (p.Ser1720=) c.5208T>C (p.Ser1736=) c.4182T>C (p.Ser1394=) c.3763T>C c.3324T>C (p.Ser1108=) c.*1141T>C (n.*1141T>C) c.4477T>C c.4053T>C (p.Ser1351=) c.5250T>C (p.Ser1750=) c.5247T>C (p.Ser1749=) c.5202T>C (p.Ser1734=) c.4326T>C (p.Ser1442=) c.4095T>C (p.Ser1365=) | dbSNP gnomAD v4 |
10 | g.94298419T>G | CA5613319 | PLCE1 | c.4284T>G (p.Ser1428=) c.*1751T>G (n.*1751T>G) n.1943T>G n.627T>G c.*492T>G (n.*492T>G) c.4236T>G (p.Ser1412=) n.9416T>G n.2881T>G c.5076T>G (p.Ser1692=) c.5160T>G (p.Ser1720=) c.5208T>G (p.Ser1736=) c.4182T>G (p.Ser1394=) c.3763T>G c.3324T>G (p.Ser1108=) c.*1141T>G (n.*1141T>G) c.4477T>G c.4053T>G (p.Ser1351=) c.5250T>G (p.Ser1750=) c.5247T>G (p.Ser1749=) c.5202T>G (p.Ser1734=) c.4326T>G (p.Ser1442=) c.4095T>G (p.Ser1365=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298419T= | CA1928998384 | PLCE1 | c.4284T= (p.Ser1428=) c.*1751T= (n.*1751T=) n.1943T= n.627T= c.*492T= (n.*492T=) c.4236T= (p.Ser1412=) n.9416T= n.2881T= c.5076T= (p.Ser1692=) c.5160T= (p.Ser1720=) c.5208T= (p.Ser1736=) c.4182T= (p.Ser1394=) c.3763T= c.3324T= (p.Ser1108=) c.*1141T= (n.*1141T=) c.4477T= c.4053T= (p.Ser1351=) c.5250T= (p.Ser1750=) c.5247T= (p.Ser1749=) c.5202T= (p.Ser1734=) c.4326T= (p.Ser1442=) c.4095T= (p.Ser1365=) | |
10 | g.94298420T>A | CA377641738 | PLCE1 | c.4285T>A (p.Ser1429Thr) c.*1752T>A (n.*1752T>A) n.1944T>A n.628T>A c.*493T>A (n.*493T>A) c.4237T>A (p.Ser1413Thr) n.9417T>A n.2882T>A c.5077T>A (p.Ser1693Thr) c.5161T>A (p.Ser1721Thr) c.5209T>A (p.Ser1737Thr) c.4183T>A (p.Ser1395Thr) c.3764T>A c.3325T>A (p.Ser1109Thr) c.*1142T>A (n.*1142T>A) c.4478T>A c.4054T>A (p.Ser1352Thr) c.5251T>A (p.Ser1751Thr) c.5248T>A (p.Ser1750Thr) c.5203T>A (p.Ser1735Thr) c.4327T>A (p.Ser1443Thr) c.4096T>A (p.Ser1366Thr) | |
10 | g.94298420T>C | CA377641740 | PLCE1 | c.4285T>C (p.Ser1429Pro) c.*1752T>C (n.*1752T>C) n.1944T>C n.628T>C c.*493T>C (n.*493T>C) c.4237T>C (p.Ser1413Pro) n.9417T>C n.2882T>C c.5077T>C (p.Ser1693Pro) c.5161T>C (p.Ser1721Pro) c.5209T>C (p.Ser1737Pro) c.4183T>C (p.Ser1395Pro) c.3764T>C c.3325T>C (p.Ser1109Pro) c.*1142T>C (n.*1142T>C) c.4478T>C c.4054T>C (p.Ser1352Pro) c.5251T>C (p.Ser1751Pro) c.5248T>C (p.Ser1750Pro) c.5203T>C (p.Ser1735Pro) c.4327T>C (p.Ser1443Pro) c.4096T>C (p.Ser1366Pro) | |
10 | g.94298420T>G | CA377641739 | PLCE1 | c.4285T>G (p.Ser1429Ala) c.*1752T>G (n.*1752T>G) n.1944T>G n.628T>G c.*493T>G (n.*493T>G) c.4237T>G (p.Ser1413Ala) n.9417T>G n.2882T>G c.5077T>G (p.Ser1693Ala) c.5161T>G (p.Ser1721Ala) c.5209T>G (p.Ser1737Ala) c.4183T>G (p.Ser1395Ala) c.3764T>G c.3325T>G (p.Ser1109Ala) c.*1142T>G (n.*1142T>G) c.4478T>G c.4054T>G (p.Ser1352Ala) c.5251T>G (p.Ser1751Ala) c.5248T>G (p.Ser1750Ala) c.5203T>G (p.Ser1735Ala) c.4327T>G (p.Ser1443Ala) c.4096T>G (p.Ser1366Ala) | |
10 | g.94298421C>A | CA377641741 | PLCE1 | c.4286C>A (p.Ser1429Tyr) c.*1753C>A (n.*1753C>A) n.1945C>A n.629C>A c.*494C>A (n.*494C>A) c.4238C>A (p.Ser1413Tyr) n.9418C>A n.2883C>A c.5078C>A (p.Ser1693Tyr) c.5162C>A (p.Ser1721Tyr) c.5210C>A (p.Ser1737Tyr) c.4184C>A (p.Ser1395Tyr) c.3765C>A c.3326C>A (p.Ser1109Tyr) c.*1143C>A (n.*1143C>A) c.4479C>A c.4055C>A (p.Ser1352Tyr) c.5252C>A (p.Ser1751Tyr) c.5249C>A (p.Ser1750Tyr) c.5204C>A (p.Ser1735Tyr) c.4328C>A (p.Ser1443Tyr) c.4097C>A (p.Ser1366Tyr) | |
10 | g.94298421C= | CA1928998385 | PLCE1 | c.4286C= (p.Ser1429=) c.*1753C= (n.*1753C=) n.1945C= n.629C= c.*494C= (n.*494C=) c.4238C= (p.Ser1413=) n.9418C= n.2883C= c.5078C= (p.Ser1693=) c.5162C= (p.Ser1721=) c.5210C= (p.Ser1737=) c.4184C= (p.Ser1395=) c.3765C= c.3326C= (p.Ser1109=) c.*1143C= (n.*1143C=) c.4479C= c.4055C= (p.Ser1352=) c.5252C= (p.Ser1751=) c.5249C= (p.Ser1750=) c.5204C= (p.Ser1735=) c.4328C= (p.Ser1443=) c.4097C= (p.Ser1366=) | |
10 | g.94298421C>G | CA377641742 | PLCE1 | c.4286C>G (p.Ser1429Cys) c.*1753C>G (n.*1753C>G) n.1945C>G n.629C>G c.*494C>G (n.*494C>G) c.4238C>G (p.Ser1413Cys) n.9418C>G n.2883C>G c.5078C>G (p.Ser1693Cys) c.5162C>G (p.Ser1721Cys) c.5210C>G (p.Ser1737Cys) c.4184C>G (p.Ser1395Cys) c.3765C>G c.3326C>G (p.Ser1109Cys) c.*1143C>G (n.*1143C>G) c.4479C>G c.4055C>G (p.Ser1352Cys) c.5252C>G (p.Ser1751Cys) c.5249C>G (p.Ser1750Cys) c.5204C>G (p.Ser1735Cys) c.4328C>G (p.Ser1443Cys) c.4097C>G (p.Ser1366Cys) | |
10 | g.94298421C>T | CA5613320 | PLCE1 | c.4286C>T (p.Ser1429Phe) c.*1753C>T (n.*1753C>T) n.1945C>T n.629C>T c.*494C>T (n.*494C>T) c.4238C>T (p.Ser1413Phe) n.9418C>T n.2883C>T c.5078C>T (p.Ser1693Phe) c.5162C>T (p.Ser1721Phe) c.5210C>T (p.Ser1737Phe) c.4184C>T (p.Ser1395Phe) c.3765C>T c.3326C>T (p.Ser1109Phe) c.*1143C>T (n.*1143C>T) c.4479C>T c.4055C>T (p.Ser1352Phe) c.5252C>T (p.Ser1751Phe) c.5249C>T (p.Ser1750Phe) c.5204C>T (p.Ser1735Phe) c.4328C>T (p.Ser1443Phe) c.4097C>T (p.Ser1366Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298422C>A | CA470986423 | PLCE1 | c.4287C>A (p.Ser1429=) c.*1754C>A (n.*1754C>A) n.1946C>A n.630C>A c.*495C>A (n.*495C>A) c.4239C>A (p.Ser1413=) n.9419C>A n.2884C>A c.5079C>A (p.Ser1693=) c.5163C>A (p.Ser1721=) c.5211C>A (p.Ser1737=) c.4185C>A (p.Ser1395=) c.3766C>A c.3327C>A (p.Ser1109=) c.*1144C>A (n.*1144C>A) c.4480C>A c.4056C>A (p.Ser1352=) c.5253C>A (p.Ser1751=) c.5250C>A (p.Ser1750=) c.5205C>A (p.Ser1735=) c.4329C>A (p.Ser1443=) c.4098C>A (p.Ser1366=) | |
10 | g.94298422C>G | CA470986425 | PLCE1 | c.4287C>G (p.Ser1429=) c.*1754C>G (n.*1754C>G) n.1946C>G n.630C>G c.*495C>G (n.*495C>G) c.4239C>G (p.Ser1413=) n.9419C>G n.2884C>G c.5079C>G (p.Ser1693=) c.5163C>G (p.Ser1721=) c.5211C>G (p.Ser1737=) c.4185C>G (p.Ser1395=) c.3766C>G c.3327C>G (p.Ser1109=) c.*1144C>G (n.*1144C>G) c.4480C>G c.4056C>G (p.Ser1352=) c.5253C>G (p.Ser1751=) c.5250C>G (p.Ser1750=) c.5205C>G (p.Ser1735=) c.4329C>G (p.Ser1443=) c.4098C>G (p.Ser1366=) | gnomAD v4 |
10 | g.94298422C>T | CA470986427 | PLCE1 | c.4287C>T (p.Ser1429=) c.*1754C>T (n.*1754C>T) n.1946C>T n.630C>T c.*495C>T (n.*495C>T) c.4239C>T (p.Ser1413=) n.9419C>T n.2884C>T c.5079C>T (p.Ser1693=) c.5163C>T (p.Ser1721=) c.5211C>T (p.Ser1737=) c.4185C>T (p.Ser1395=) c.3766C>T c.3327C>T (p.Ser1109=) c.*1144C>T (n.*1144C>T) c.4480C>T c.4056C>T (p.Ser1352=) c.5253C>T (p.Ser1751=) c.5250C>T (p.Ser1750=) c.5205C>T (p.Ser1735=) c.4329C>T (p.Ser1443=) c.4098C>T (p.Ser1366=) | |
10 | g.94298423C>A | CA377641743 | PLCE1 | c.4288C>A (p.Pro1430Thr) c.*1755C>A (n.*1755C>A) n.1947C>A n.631C>A c.*496C>A (n.*496C>A) c.4240C>A (p.Pro1414Thr) n.9420C>A n.2885C>A c.5080C>A (p.Pro1694Thr) c.5164C>A (p.Pro1722Thr) c.5212C>A (p.Pro1738Thr) c.4186C>A (p.Pro1396Thr) c.3767C>A c.3328C>A (p.Pro1110Thr) c.*1145C>A (n.*1145C>A) c.4481C>A c.4057C>A (p.Pro1353Thr) c.5254C>A (p.Pro1752Thr) c.5251C>A (p.Pro1751Thr) c.5206C>A (p.Pro1736Thr) c.4330C>A (p.Pro1444Thr) c.4099C>A (p.Pro1367Thr) | |
10 | g.94298423C= | CA1928998386 | PLCE1 | c.4288C= (p.Pro1430=) c.*1755C= (n.*1755C=) n.1947C= n.631C= c.*496C= (n.*496C=) c.4240C= (p.Pro1414=) n.9420C= n.2885C= c.5080C= (p.Pro1694=) c.5164C= (p.Pro1722=) c.5212C= (p.Pro1738=) c.4186C= (p.Pro1396=) c.3767C= c.3328C= (p.Pro1110=) c.*1145C= (n.*1145C=) c.4481C= c.4057C= (p.Pro1353=) c.5254C= (p.Pro1752=) c.5251C= (p.Pro1751=) c.5206C= (p.Pro1736=) c.4330C= (p.Pro1444=) c.4099C= (p.Pro1367=) | |
10 | g.94298423C>G | CA211599594 | PLCE1 | c.4288C>G (p.Pro1430Ala) c.*1755C>G (n.*1755C>G) n.1947C>G n.631C>G c.*496C>G (n.*496C>G) c.4240C>G (p.Pro1414Ala) n.9420C>G n.2885C>G c.5080C>G (p.Pro1694Ala) c.5164C>G (p.Pro1722Ala) c.5212C>G (p.Pro1738Ala) c.4186C>G (p.Pro1396Ala) c.3767C>G c.3328C>G (p.Pro1110Ala) c.*1145C>G (n.*1145C>G) c.4481C>G c.4057C>G (p.Pro1353Ala) c.5254C>G (p.Pro1752Ala) c.5251C>G (p.Pro1751Ala) c.5206C>G (p.Pro1736Ala) c.4330C>G (p.Pro1444Ala) c.4099C>G (p.Pro1367Ala) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298423C>T | CA377641744 | PLCE1 | c.4288C>T (p.Pro1430Ser) c.*1755C>T (n.*1755C>T) n.1947C>T n.631C>T c.*496C>T (n.*496C>T) c.4240C>T (p.Pro1414Ser) n.9420C>T n.2885C>T c.5080C>T (p.Pro1694Ser) c.5164C>T (p.Pro1722Ser) c.5212C>T (p.Pro1738Ser) c.4186C>T (p.Pro1396Ser) c.3767C>T c.3328C>T (p.Pro1110Ser) c.*1145C>T (n.*1145C>T) c.4481C>T c.4057C>T (p.Pro1353Ser) c.5254C>T (p.Pro1752Ser) c.5251C>T (p.Pro1751Ser) c.5206C>T (p.Pro1736Ser) c.4330C>T (p.Pro1444Ser) c.4099C>T (p.Pro1367Ser) | gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298424C>A | CA377641745 | PLCE1 | c.4289C>A (p.Pro1430His) c.*1756C>A (n.*1756C>A) n.1948C>A n.632C>A c.*497C>A (n.*497C>A) c.4241C>A (p.Pro1414His) n.9421C>A n.2886C>A c.5081C>A (p.Pro1694His) c.5165C>A (p.Pro1722His) c.5213C>A (p.Pro1738His) c.4187C>A (p.Pro1396His) c.3768C>A c.3329C>A (p.Pro1110His) c.*1146C>A (n.*1146C>A) c.4482C>A c.4058C>A (p.Pro1353His) c.5255C>A (p.Pro1752His) c.5252C>A (p.Pro1751His) c.5207C>A (p.Pro1736His) c.4331C>A (p.Pro1444His) c.4100C>A (p.Pro1367His) | |
10 | g.94298424C= | CA1928998387 | PLCE1 | c.4289C= (p.Pro1430=) c.*1756C= (n.*1756C=) n.1948C= n.632C= c.*497C= (n.*497C=) c.4241C= (p.Pro1414=) n.9421C= n.2886C= c.5081C= (p.Pro1694=) c.5165C= (p.Pro1722=) c.5213C= (p.Pro1738=) c.4187C= (p.Pro1396=) c.3768C= c.3329C= (p.Pro1110=) c.*1146C= (n.*1146C=) c.4482C= c.4058C= (p.Pro1353=) c.5255C= (p.Pro1752=) c.5252C= (p.Pro1751=) c.5207C= (p.Pro1736=) c.4331C= (p.Pro1444=) c.4100C= (p.Pro1367=) | |
10 | g.94298424C>G | CA5613321 | PLCE1 | c.4289C>G (p.Pro1430Arg) c.*1756C>G (n.*1756C>G) n.1948C>G n.632C>G c.*497C>G (n.*497C>G) c.4241C>G (p.Pro1414Arg) n.9421C>G n.2886C>G c.5081C>G (p.Pro1694Arg) c.5165C>G (p.Pro1722Arg) c.5213C>G (p.Pro1738Arg) c.4187C>G (p.Pro1396Arg) c.3768C>G c.3329C>G (p.Pro1110Arg) c.*1146C>G (n.*1146C>G) c.4482C>G c.4058C>G (p.Pro1353Arg) c.5255C>G (p.Pro1752Arg) c.5252C>G (p.Pro1751Arg) c.5207C>G (p.Pro1736Arg) c.4331C>G (p.Pro1444Arg) c.4100C>G (p.Pro1367Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298424C>T | CA377641746 | PLCE1 | c.4289C>T (p.Pro1430Leu) c.*1756C>T (n.*1756C>T) n.1948C>T n.632C>T c.*497C>T (n.*497C>T) c.4241C>T (p.Pro1414Leu) n.9421C>T n.2886C>T c.5081C>T (p.Pro1694Leu) c.5165C>T (p.Pro1722Leu) c.5213C>T (p.Pro1738Leu) c.4187C>T (p.Pro1396Leu) c.3768C>T c.3329C>T (p.Pro1110Leu) c.*1146C>T (n.*1146C>T) c.4482C>T c.4058C>T (p.Pro1353Leu) c.5255C>T (p.Pro1752Leu) c.5252C>T (p.Pro1751Leu) c.5207C>T (p.Pro1736Leu) c.4331C>T (p.Pro1444Leu) c.4100C>T (p.Pro1367Leu) | |
10 | g.94298425T>A | CA470986428 | PLCE1 | c.4290T>A (p.Pro1430=) c.*1757T>A (n.*1757T>A) n.1949T>A n.633T>A c.*498T>A (n.*498T>A) c.4242T>A (p.Pro1414=) n.9422T>A n.2887T>A c.5082T>A (p.Pro1694=) c.5166T>A (p.Pro1722=) c.5214T>A (p.Pro1738=) c.4188T>A (p.Pro1396=) c.3769T>A c.3330T>A (p.Pro1110=) c.*1147T>A (n.*1147T>A) c.4483T>A c.4059T>A (p.Pro1353=) c.5256T>A (p.Pro1752=) c.5253T>A (p.Pro1751=) c.5208T>A (p.Pro1736=) c.4332T>A (p.Pro1444=) c.4101T>A (p.Pro1367=) | |
10 | g.94298425T>C | CA470986429 | PLCE1 | c.4290T>C (p.Pro1430=) c.*1757T>C (n.*1757T>C) n.1949T>C n.633T>C c.*498T>C (n.*498T>C) c.4242T>C (p.Pro1414=) n.9422T>C n.2887T>C c.5082T>C (p.Pro1694=) c.5166T>C (p.Pro1722=) c.5214T>C (p.Pro1738=) c.4188T>C (p.Pro1396=) c.3769T>C c.3330T>C (p.Pro1110=) c.*1147T>C (n.*1147T>C) c.4483T>C c.4059T>C (p.Pro1353=) c.5256T>C (p.Pro1752=) c.5253T>C (p.Pro1751=) c.5208T>C (p.Pro1736=) c.4332T>C (p.Pro1444=) c.4101T>C (p.Pro1367=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298425T>G | CA470986430 | PLCE1 | c.4290T>G (p.Pro1430=) c.*1757T>G (n.*1757T>G) n.1949T>G n.633T>G c.*498T>G (n.*498T>G) c.4242T>G (p.Pro1414=) n.9422T>G n.2887T>G c.5082T>G (p.Pro1694=) c.5166T>G (p.Pro1722=) c.5214T>G (p.Pro1738=) c.4188T>G (p.Pro1396=) c.3769T>G c.3330T>G (p.Pro1110=) c.*1147T>G (n.*1147T>G) c.4483T>G c.4059T>G (p.Pro1353=) c.5256T>G (p.Pro1752=) c.5253T>G (p.Pro1751=) c.5208T>G (p.Pro1736=) c.4332T>G (p.Pro1444=) c.4101T>G (p.Pro1367=) | COSMIC COSMIC COSMIC |
10 | g.94298425T= | CA1928998388 | PLCE1 | c.4290T= (p.Pro1430=) c.*1757T= (n.*1757T=) n.1949T= n.633T= c.*498T= (n.*498T=) c.4242T= (p.Pro1414=) n.9422T= n.2887T= c.5082T= (p.Pro1694=) c.5166T= (p.Pro1722=) c.5214T= (p.Pro1738=) c.4188T= (p.Pro1396=) c.3769T= c.3330T= (p.Pro1110=) c.*1147T= (n.*1147T=) c.4483T= c.4059T= (p.Pro1353=) c.5256T= (p.Pro1752=) c.5253T= (p.Pro1751=) c.5208T= (p.Pro1736=) c.4332T= (p.Pro1444=) c.4101T= (p.Pro1367=) | |
10 | g.94298426C>A | CA377641747 | PLCE1 | c.4291C>A (p.Leu1431Ile) c.*1758C>A (n.*1758C>A) n.1950C>A n.634C>A c.*499C>A (n.*499C>A) c.4243C>A (p.Leu1415Ile) n.9423C>A n.2888C>A c.5083C>A (p.Leu1695Ile) c.5167C>A (p.Leu1723Ile) c.5215C>A (p.Leu1739Ile) c.4189C>A (p.Leu1397Ile) c.3770C>A c.3331C>A (p.Leu1111Ile) c.*1148C>A (n.*1148C>A) c.4484C>A c.4060C>A (p.Leu1354Ile) c.5257C>A (p.Leu1753Ile) c.5254C>A (p.Leu1752Ile) c.5209C>A (p.Leu1737Ile) c.4333C>A (p.Leu1445Ile) c.4102C>A (p.Leu1368Ile) | |
10 | g.94298426C= | CA1928998389 | PLCE1 | c.4291C= (p.Leu1431=) c.*1758C= (n.*1758C=) n.1950C= n.634C= c.*499C= (n.*499C=) c.4243C= (p.Leu1415=) n.9423C= n.2888C= c.5083C= (p.Leu1695=) c.5167C= (p.Leu1723=) c.5215C= (p.Leu1739=) c.4189C= (p.Leu1397=) c.3770C= c.3331C= (p.Leu1111=) c.*1148C= (n.*1148C=) c.4484C= c.4060C= (p.Leu1354=) c.5257C= (p.Leu1753=) c.5254C= (p.Leu1752=) c.5209C= (p.Leu1737=) c.4333C= (p.Leu1445=) c.4102C= (p.Leu1368=) | |
10 | g.94298426C>G | CA377641748 | PLCE1 | c.4291C>G (p.Leu1431Val) c.*1758C>G (n.*1758C>G) n.1950C>G n.634C>G c.*499C>G (n.*499C>G) c.4243C>G (p.Leu1415Val) n.9423C>G n.2888C>G c.5083C>G (p.Leu1695Val) c.5167C>G (p.Leu1723Val) c.5215C>G (p.Leu1739Val) c.4189C>G (p.Leu1397Val) c.3770C>G c.3331C>G (p.Leu1111Val) c.*1148C>G (n.*1148C>G) c.4484C>G c.4060C>G (p.Leu1354Val) c.5257C>G (p.Leu1753Val) c.5254C>G (p.Leu1752Val) c.5209C>G (p.Leu1737Val) c.4333C>G (p.Leu1445Val) c.4102C>G (p.Leu1368Val) | |
10 | g.94298426C>T | CA377641749 | PLCE1 | c.4291C>T (p.Leu1431Phe) c.*1758C>T (n.*1758C>T) n.1950C>T n.634C>T c.*499C>T (n.*499C>T) c.4243C>T (p.Leu1415Phe) n.9423C>T n.2888C>T c.5083C>T (p.Leu1695Phe) c.5167C>T (p.Leu1723Phe) c.5215C>T (p.Leu1739Phe) c.4189C>T (p.Leu1397Phe) c.3770C>T c.3331C>T (p.Leu1111Phe) c.*1148C>T (n.*1148C>T) c.4484C>T c.4060C>T (p.Leu1354Phe) c.5257C>T (p.Leu1753Phe) c.5254C>T (p.Leu1752Phe) c.5209C>T (p.Leu1737Phe) c.4333C>T (p.Leu1445Phe) c.4102C>T (p.Leu1368Phe) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298427T>A | CA377641752 | PLCE1 | c.4292T>A (p.Leu1431His) c.*1759T>A (n.*1759T>A) n.1951T>A n.635T>A c.*500T>A (n.*500T>A) c.4244T>A (p.Leu1415His) n.9424T>A n.2889T>A c.5084T>A (p.Leu1695His) c.5168T>A (p.Leu1723His) c.5216T>A (p.Leu1739His) c.4190T>A (p.Leu1397His) c.3771T>A c.3332T>A (p.Leu1111His) c.*1149T>A (n.*1149T>A) c.4485T>A c.4061T>A (p.Leu1354His) c.5258T>A (p.Leu1753His) c.5255T>A (p.Leu1752His) c.5210T>A (p.Leu1737His) c.4334T>A (p.Leu1445His) c.4103T>A (p.Leu1368His) | |
10 | g.94298427T>C | CA377641750 | PLCE1 | c.4292T>C (p.Leu1431Pro) c.*1759T>C (n.*1759T>C) n.1951T>C n.635T>C c.*500T>C (n.*500T>C) c.4244T>C (p.Leu1415Pro) n.9424T>C n.2889T>C c.5084T>C (p.Leu1695Pro) c.5168T>C (p.Leu1723Pro) c.5216T>C (p.Leu1739Pro) c.4190T>C (p.Leu1397Pro) c.3771T>C c.3332T>C (p.Leu1111Pro) c.*1149T>C (n.*1149T>C) c.4485T>C c.4061T>C (p.Leu1354Pro) c.5258T>C (p.Leu1753Pro) c.5255T>C (p.Leu1752Pro) c.5210T>C (p.Leu1737Pro) c.4334T>C (p.Leu1445Pro) c.4103T>C (p.Leu1368Pro) | |
10 | g.94298427T>G | CA377641751 | PLCE1 | c.4292T>G (p.Leu1431Arg) c.*1759T>G (n.*1759T>G) n.1951T>G n.635T>G c.*500T>G (n.*500T>G) c.4244T>G (p.Leu1415Arg) n.9424T>G n.2889T>G c.5084T>G (p.Leu1695Arg) c.5168T>G (p.Leu1723Arg) c.5216T>G (p.Leu1739Arg) c.4190T>G (p.Leu1397Arg) c.3771T>G c.3332T>G (p.Leu1111Arg) c.*1149T>G (n.*1149T>G) c.4485T>G c.4061T>G (p.Leu1354Arg) c.5258T>G (p.Leu1753Arg) c.5255T>G (p.Leu1752Arg) c.5210T>G (p.Leu1737Arg) c.4334T>G (p.Leu1445Arg) c.4103T>G (p.Leu1368Arg) | |
10 | g.94298428C>A | CA470986434 | PLCE1 | c.4293C>A (p.Leu1431=) c.*1760C>A (n.*1760C>A) n.1952C>A n.636C>A c.*501C>A (n.*501C>A) c.4245C>A (p.Leu1415=) n.9425C>A n.2890C>A c.5085C>A (p.Leu1695=) c.5169C>A (p.Leu1723=) c.5217C>A (p.Leu1739=) c.4191C>A (p.Leu1397=) c.3772C>A c.3333C>A (p.Leu1111=) c.*1150C>A (n.*1150C>A) c.4486C>A c.4062C>A (p.Leu1354=) c.5259C>A (p.Leu1753=) c.5256C>A (p.Leu1752=) c.5211C>A (p.Leu1737=) c.4335C>A (p.Leu1445=) c.4104C>A (p.Leu1368=) | |
10 | g.94298428C>G | CA470986435 | PLCE1 | c.4293C>G (p.Leu1431=) c.*1760C>G (n.*1760C>G) n.1952C>G n.636C>G c.*501C>G (n.*501C>G) c.4245C>G (p.Leu1415=) n.9425C>G n.2890C>G c.5085C>G (p.Leu1695=) c.5169C>G (p.Leu1723=) c.5217C>G (p.Leu1739=) c.4191C>G (p.Leu1397=) c.3772C>G c.3333C>G (p.Leu1111=) c.*1150C>G (n.*1150C>G) c.4486C>G c.4062C>G (p.Leu1354=) c.5259C>G (p.Leu1753=) c.5256C>G (p.Leu1752=) c.5211C>G (p.Leu1737=) c.4335C>G (p.Leu1445=) c.4104C>G (p.Leu1368=) | |
10 | g.94298428C>T | CA470986436 | PLCE1 | c.4293C>T (p.Leu1431=) c.*1760C>T (n.*1760C>T) n.1952C>T n.636C>T c.*501C>T (n.*501C>T) c.4245C>T (p.Leu1415=) n.9425C>T n.2890C>T c.5085C>T (p.Leu1695=) c.5169C>T (p.Leu1723=) c.5217C>T (p.Leu1739=) c.4191C>T (p.Leu1397=) c.3772C>T c.3333C>T (p.Leu1111=) c.*1150C>T (n.*1150C>T) c.4486C>T c.4062C>T (p.Leu1354=) c.5259C>T (p.Leu1753=) c.5256C>T (p.Leu1752=) c.5211C>T (p.Leu1737=) c.4335C>T (p.Leu1445=) c.4104C>T (p.Leu1368=) | |
10 | g.94298429A>C | CA377641753 | PLCE1 | c.4294A>C (p.Asn1432His) c.*1761A>C (n.*1761A>C) n.1953A>C n.637A>C c.*502A>C (n.*502A>C) c.4246A>C (p.Asn1416His) n.9426A>C n.2891A>C c.5086A>C (p.Asn1696His) c.5170A>C (p.Asn1724His) c.5218A>C (p.Asn1740His) c.4192A>C (p.Asn1398His) c.3773A>C c.3334A>C (p.Asn1112His) c.*1151A>C (n.*1151A>C) c.4487A>C c.4063A>C (p.Asn1355His) c.5260A>C (p.Asn1754His) c.5257A>C (p.Asn1753His) c.5212A>C (p.Asn1738His) c.4336A>C (p.Asn1446His) c.4105A>C (p.Asn1369His) | |
10 | g.94298429A>G | CA377641754 | PLCE1 | c.4294A>G (p.Asn1432Asp) c.*1761A>G (n.*1761A>G) n.1953A>G n.637A>G c.*502A>G (n.*502A>G) c.4246A>G (p.Asn1416Asp) n.9426A>G n.2891A>G c.5086A>G (p.Asn1696Asp) c.5170A>G (p.Asn1724Asp) c.5218A>G (p.Asn1740Asp) c.4192A>G (p.Asn1398Asp) c.3773A>G c.3334A>G (p.Asn1112Asp) c.*1151A>G (n.*1151A>G) c.4487A>G c.4063A>G (p.Asn1355Asp) c.5260A>G (p.Asn1754Asp) c.5257A>G (p.Asn1753Asp) c.5212A>G (p.Asn1738Asp) c.4336A>G (p.Asn1446Asp) c.4105A>G (p.Asn1369Asp) | |
10 | g.94298429A>T | CA377641755 | PLCE1 | c.4294A>T (p.Asn1432Tyr) c.*1761A>T (n.*1761A>T) n.1953A>T n.637A>T c.*502A>T (n.*502A>T) c.4246A>T (p.Asn1416Tyr) n.9426A>T n.2891A>T c.5086A>T (p.Asn1696Tyr) c.5170A>T (p.Asn1724Tyr) c.5218A>T (p.Asn1740Tyr) c.4192A>T (p.Asn1398Tyr) c.3773A>T c.3334A>T (p.Asn1112Tyr) c.*1151A>T (n.*1151A>T) c.4487A>T c.4063A>T (p.Asn1355Tyr) c.5260A>T (p.Asn1754Tyr) c.5257A>T (p.Asn1753Tyr) c.5212A>T (p.Asn1738Tyr) c.4336A>T (p.Asn1446Tyr) c.4105A>T (p.Asn1369Tyr) | |
10 | g.94298430A>C | CA377641756 | PLCE1 | c.4295A>C (p.Asn1432Thr) c.*1762A>C (n.*1762A>C) n.1954A>C n.638A>C c.*503A>C (n.*503A>C) c.4247A>C (p.Asn1416Thr) n.9427A>C n.2892A>C c.5087A>C (p.Asn1696Thr) c.5171A>C (p.Asn1724Thr) c.5219A>C (p.Asn1740Thr) c.4193A>C (p.Asn1398Thr) c.3774A>C c.3335A>C (p.Asn1112Thr) c.*1152A>C (n.*1152A>C) c.4488A>C c.4064A>C (p.Asn1355Thr) c.5261A>C (p.Asn1754Thr) c.5258A>C (p.Asn1753Thr) c.5213A>C (p.Asn1738Thr) c.4337A>C (p.Asn1446Thr) c.4106A>C (p.Asn1369Thr) | |
10 | g.94298430A>G | CA377641757 | PLCE1 | c.4295A>G (p.Asn1432Ser) c.*1762A>G (n.*1762A>G) n.1954A>G n.638A>G c.*503A>G (n.*503A>G) c.4247A>G (p.Asn1416Ser) n.9427A>G n.2892A>G c.5087A>G (p.Asn1696Ser) c.5171A>G (p.Asn1724Ser) c.5219A>G (p.Asn1740Ser) c.4193A>G (p.Asn1398Ser) c.3774A>G c.3335A>G (p.Asn1112Ser) c.*1152A>G (n.*1152A>G) c.4488A>G c.4064A>G (p.Asn1355Ser) c.5261A>G (p.Asn1754Ser) c.5258A>G (p.Asn1753Ser) c.5213A>G (p.Asn1738Ser) c.4337A>G (p.Asn1446Ser) c.4106A>G (p.Asn1369Ser) | |
10 | g.94298430A>T | CA377641758 | PLCE1 | c.4295A>T (p.Asn1432Ile) c.*1762A>T (n.*1762A>T) n.1954A>T n.638A>T c.*503A>T (n.*503A>T) c.4247A>T (p.Asn1416Ile) n.9427A>T n.2892A>T c.5087A>T (p.Asn1696Ile) c.5171A>T (p.Asn1724Ile) c.5219A>T (p.Asn1740Ile) c.4193A>T (p.Asn1398Ile) c.3774A>T c.3335A>T (p.Asn1112Ile) c.*1152A>T (n.*1152A>T) c.4488A>T c.4064A>T (p.Asn1355Ile) c.5261A>T (p.Asn1754Ile) c.5258A>T (p.Asn1753Ile) c.5213A>T (p.Asn1738Ile) c.4337A>T (p.Asn1446Ile) c.4106A>T (p.Asn1369Ile) | |
10 | g.94298431C>A | CA377641759 | PLCE1 | c.4296C>A (p.Asn1432Lys) c.*1763C>A (n.*1763C>A) n.1955C>A n.639C>A c.*504C>A (n.*504C>A) c.4248C>A (p.Asn1416Lys) n.9428C>A n.2893C>A c.5088C>A (p.Asn1696Lys) c.5172C>A (p.Asn1724Lys) c.5220C>A (p.Asn1740Lys) c.4194C>A (p.Asn1398Lys) c.3775C>A c.3336C>A (p.Asn1112Lys) c.*1153C>A (n.*1153C>A) c.4489C>A c.4065C>A (p.Asn1355Lys) c.5262C>A (p.Asn1754Lys) c.5259C>A (p.Asn1753Lys) c.5214C>A (p.Asn1738Lys) c.4338C>A (p.Asn1446Lys) c.4107C>A (p.Asn1369Lys) | |
10 | g.94298431C>G | CA377641760 | PLCE1 | c.4296C>G (p.Asn1432Lys) c.*1763C>G (n.*1763C>G) n.1955C>G n.639C>G c.*504C>G (n.*504C>G) c.4248C>G (p.Asn1416Lys) n.9428C>G n.2893C>G c.5088C>G (p.Asn1696Lys) c.5172C>G (p.Asn1724Lys) c.5220C>G (p.Asn1740Lys) c.4194C>G (p.Asn1398Lys) c.3775C>G c.3336C>G (p.Asn1112Lys) c.*1153C>G (n.*1153C>G) c.4489C>G c.4065C>G (p.Asn1355Lys) c.5262C>G (p.Asn1754Lys) c.5259C>G (p.Asn1753Lys) c.5214C>G (p.Asn1738Lys) c.4338C>G (p.Asn1446Lys) c.4107C>G (p.Asn1369Lys) | |
10 | g.94298431C>T | CA470986437 | PLCE1 | c.4296C>T (p.Asn1432=) c.*1763C>T (n.*1763C>T) n.1955C>T n.639C>T c.*504C>T (n.*504C>T) c.4248C>T (p.Asn1416=) n.9428C>T n.2893C>T c.5088C>T (p.Asn1696=) c.5172C>T (p.Asn1724=) c.5220C>T (p.Asn1740=) c.4194C>T (p.Asn1398=) c.3775C>T c.3336C>T (p.Asn1112=) c.*1153C>T (n.*1153C>T) c.4489C>T c.4065C>T (p.Asn1355=) c.5262C>T (p.Asn1754=) c.5259C>T (p.Asn1753=) c.5214C>T (p.Asn1738=) c.4338C>T (p.Asn1446=) c.4107C>T (p.Asn1369=) | |
10 | g.94298432C>A | CA377641761 | PLCE1 | c.4297C>A (p.Pro1433Thr) c.*1764C>A (n.*1764C>A) n.1956C>A n.640C>A c.*505C>A (n.*505C>A) c.4249C>A (p.Pro1417Thr) n.9429C>A n.2894C>A c.5089C>A (p.Pro1697Thr) c.5173C>A (p.Pro1725Thr) c.5221C>A (p.Pro1741Thr) c.4195C>A (p.Pro1399Thr) c.3776C>A c.3337C>A (p.Pro1113Thr) c.*1154C>A (n.*1154C>A) c.4490C>A c.4066C>A (p.Pro1356Thr) c.5263C>A (p.Pro1755Thr) c.5260C>A (p.Pro1754Thr) c.5215C>A (p.Pro1739Thr) c.4339C>A (p.Pro1447Thr) c.4108C>A (p.Pro1370Thr) | |
10 | g.94298432C>G | CA377641762 | PLCE1 | c.4297C>G (p.Pro1433Ala) c.*1764C>G (n.*1764C>G) n.1956C>G n.640C>G c.*505C>G (n.*505C>G) c.4249C>G (p.Pro1417Ala) n.9429C>G n.2894C>G c.5089C>G (p.Pro1697Ala) c.5173C>G (p.Pro1725Ala) c.5221C>G (p.Pro1741Ala) c.4195C>G (p.Pro1399Ala) c.3776C>G c.3337C>G (p.Pro1113Ala) c.*1154C>G (n.*1154C>G) c.4490C>G c.4066C>G (p.Pro1356Ala) c.5263C>G (p.Pro1755Ala) c.5260C>G (p.Pro1754Ala) c.5215C>G (p.Pro1739Ala) c.4339C>G (p.Pro1447Ala) c.4108C>G (p.Pro1370Ala) | |
10 | g.94298432C>T | CA377641763 | PLCE1 | c.4297C>T (p.Pro1433Ser) c.*1764C>T (n.*1764C>T) n.1956C>T n.640C>T c.*505C>T (n.*505C>T) c.4249C>T (p.Pro1417Ser) n.9429C>T n.2894C>T c.5089C>T (p.Pro1697Ser) c.5173C>T (p.Pro1725Ser) c.5221C>T (p.Pro1741Ser) c.4195C>T (p.Pro1399Ser) c.3776C>T c.3337C>T (p.Pro1113Ser) c.*1154C>T (n.*1154C>T) c.4490C>T c.4066C>T (p.Pro1356Ser) c.5263C>T (p.Pro1755Ser) c.5260C>T (p.Pro1754Ser) c.5215C>T (p.Pro1739Ser) c.4339C>T (p.Pro1447Ser) c.4108C>T (p.Pro1370Ser) | |
10 | g.94298433C>A | CA377641765 | PLCE1 | c.4298C>A (p.Pro1433Gln) c.*1765C>A (n.*1765C>A) n.1957C>A n.641C>A c.*506C>A (n.*506C>A) c.4250C>A (p.Pro1417Gln) n.9430C>A n.2895C>A c.5090C>A (p.Pro1697Gln) c.5174C>A (p.Pro1725Gln) c.5222C>A (p.Pro1741Gln) c.4196C>A (p.Pro1399Gln) c.3777C>A c.3338C>A (p.Pro1113Gln) c.*1155C>A (n.*1155C>A) c.4491C>A c.4067C>A (p.Pro1356Gln) c.5264C>A (p.Pro1755Gln) c.5261C>A (p.Pro1754Gln) c.5216C>A (p.Pro1739Gln) c.4340C>A (p.Pro1447Gln) c.4109C>A (p.Pro1370Gln) | gnomAD v4 |
10 | g.94298433C>G | CA377641766 | PLCE1 | c.4298C>G (p.Pro1433Arg) c.*1765C>G (n.*1765C>G) n.1957C>G n.641C>G c.*506C>G (n.*506C>G) c.4250C>G (p.Pro1417Arg) n.9430C>G n.2895C>G c.5090C>G (p.Pro1697Arg) c.5174C>G (p.Pro1725Arg) c.5222C>G (p.Pro1741Arg) c.4196C>G (p.Pro1399Arg) c.3777C>G c.3338C>G (p.Pro1113Arg) c.*1155C>G (n.*1155C>G) c.4491C>G c.4067C>G (p.Pro1356Arg) c.5264C>G (p.Pro1755Arg) c.5261C>G (p.Pro1754Arg) c.5216C>G (p.Pro1739Arg) c.4340C>G (p.Pro1447Arg) c.4109C>G (p.Pro1370Arg) | |
10 | g.94298433C>T | CA377641764 | PLCE1 | c.4298C>T (p.Pro1433Leu) c.*1765C>T (n.*1765C>T) n.1957C>T n.641C>T c.*506C>T (n.*506C>T) c.4250C>T (p.Pro1417Leu) n.9430C>T n.2895C>T c.5090C>T (p.Pro1697Leu) c.5174C>T (p.Pro1725Leu) c.5222C>T (p.Pro1741Leu) c.4196C>T (p.Pro1399Leu) c.3777C>T c.3338C>T (p.Pro1113Leu) c.*1155C>T (n.*1155C>T) c.4491C>T c.4067C>T (p.Pro1356Leu) c.5264C>T (p.Pro1755Leu) c.5261C>T (p.Pro1754Leu) c.5216C>T (p.Pro1739Leu) c.4340C>T (p.Pro1447Leu) c.4109C>T (p.Pro1370Leu) | |
10 | g.94298434A>C | CA470986439 | PLCE1 | c.4299A>C (p.Pro1433=) c.*1766A>C (n.*1766A>C) n.1958A>C n.642A>C c.*507A>C (n.*507A>C) c.4251A>C (p.Pro1417=) n.9431A>C n.2896A>C c.5091A>C (p.Pro1697=) c.5175A>C (p.Pro1725=) c.5223A>C (p.Pro1741=) c.4197A>C (p.Pro1399=) c.3778A>C c.3339A>C (p.Pro1113=) c.*1156A>C (n.*1156A>C) c.4492A>C c.4068A>C (p.Pro1356=) c.5265A>C (p.Pro1755=) c.5262A>C (p.Pro1754=) c.5217A>C (p.Pro1739=) c.4341A>C (p.Pro1447=) c.4110A>C (p.Pro1370=) | |
10 | g.94298434A>G | CA470986440 | PLCE1 | c.4299A>G (p.Pro1433=) c.*1766A>G (n.*1766A>G) n.1958A>G n.642A>G c.*507A>G (n.*507A>G) c.4251A>G (p.Pro1417=) n.9431A>G n.2896A>G c.5091A>G (p.Pro1697=) c.5175A>G (p.Pro1725=) c.5223A>G (p.Pro1741=) c.4197A>G (p.Pro1399=) c.3778A>G c.3339A>G (p.Pro1113=) c.*1156A>G (n.*1156A>G) c.4492A>G c.4068A>G (p.Pro1356=) c.5265A>G (p.Pro1755=) c.5262A>G (p.Pro1754=) c.5217A>G (p.Pro1739=) c.4341A>G (p.Pro1447=) c.4110A>G (p.Pro1370=) | |
10 | g.94298434A>T | CA470986441 | PLCE1 | c.4299A>T (p.Pro1433=) c.*1766A>T (n.*1766A>T) n.1958A>T n.642A>T c.*507A>T (n.*507A>T) c.4251A>T (p.Pro1417=) n.9431A>T n.2896A>T c.5091A>T (p.Pro1697=) c.5175A>T (p.Pro1725=) c.5223A>T (p.Pro1741=) c.4197A>T (p.Pro1399=) c.3778A>T c.3339A>T (p.Pro1113=) c.*1156A>T (n.*1156A>T) c.4492A>T c.4068A>T (p.Pro1356=) c.5265A>T (p.Pro1755=) c.5262A>T (p.Pro1754=) c.5217A>T (p.Pro1739=) c.4341A>T (p.Pro1447=) c.4110A>T (p.Pro1370=) | |
10 | g.94298435A= | CA1928998390 | PLCE1 | c.4300A= (p.Thr1434=) c.*1767A= (n.*1767A=) n.1959A= n.643A= c.*508A= (n.*508A=) c.4252A= (p.Thr1418=) n.9432A= n.2897A= c.5092A= (p.Thr1698=) c.5176A= (p.Thr1726=) c.5224A= (p.Thr1742=) c.4198A= (p.Thr1400=) c.3779A= c.3340A= (p.Thr1114=) c.*1157A= (n.*1157A=) c.4493A= c.4069A= (p.Thr1357=) c.5266A= (p.Thr1756=) c.5263A= (p.Thr1755=) c.5218A= (p.Thr1740=) c.4342A= (p.Thr1448=) c.4111A= (p.Thr1371=) | |
10 | g.94298435A>C | CA377641768 | PLCE1 | c.4300A>C (p.Thr1434Pro) c.*1767A>C (n.*1767A>C) n.1959A>C n.643A>C c.*508A>C (n.*508A>C) c.4252A>C (p.Thr1418Pro) n.9432A>C n.2897A>C c.5092A>C (p.Thr1698Pro) c.5176A>C (p.Thr1726Pro) c.5224A>C (p.Thr1742Pro) c.4198A>C (p.Thr1400Pro) c.3779A>C c.3340A>C (p.Thr1114Pro) c.*1157A>C (n.*1157A>C) c.4493A>C c.4069A>C (p.Thr1357Pro) c.5266A>C (p.Thr1756Pro) c.5263A>C (p.Thr1755Pro) c.5218A>C (p.Thr1740Pro) c.4342A>C (p.Thr1448Pro) c.4111A>C (p.Thr1371Pro) | |
10 | g.94298435A>G | CA211599611 | PLCE1 | c.4300A>G (p.Thr1434Ala) c.*1767A>G (n.*1767A>G) n.1959A>G n.643A>G c.*508A>G (n.*508A>G) c.4252A>G (p.Thr1418Ala) n.9432A>G n.2897A>G c.5092A>G (p.Thr1698Ala) c.5176A>G (p.Thr1726Ala) c.5224A>G (p.Thr1742Ala) c.4198A>G (p.Thr1400Ala) c.3779A>G c.3340A>G (p.Thr1114Ala) c.*1157A>G (n.*1157A>G) c.4493A>G c.4069A>G (p.Thr1357Ala) c.5266A>G (p.Thr1756Ala) c.5263A>G (p.Thr1755Ala) c.5218A>G (p.Thr1740Ala) c.4342A>G (p.Thr1448Ala) c.4111A>G (p.Thr1371Ala) | dbSNP gnomAD v4 |
10 | g.94298435A>T | CA377641767 | PLCE1 | c.4300A>T (p.Thr1434Ser) c.*1767A>T (n.*1767A>T) n.1959A>T n.643A>T c.*508A>T (n.*508A>T) c.4252A>T (p.Thr1418Ser) n.9432A>T n.2897A>T c.5092A>T (p.Thr1698Ser) c.5176A>T (p.Thr1726Ser) c.5224A>T (p.Thr1742Ser) c.4198A>T (p.Thr1400Ser) c.3779A>T c.3340A>T (p.Thr1114Ser) c.*1157A>T (n.*1157A>T) c.4493A>T c.4069A>T (p.Thr1357Ser) c.5266A>T (p.Thr1756Ser) c.5263A>T (p.Thr1755Ser) c.5218A>T (p.Thr1740Ser) c.4342A>T (p.Thr1448Ser) c.4111A>T (p.Thr1371Ser) | |
10 | g.94298436C>A | CA377641769 | PLCE1 | c.4301C>A (p.Thr1434Asn) c.*1768C>A (n.*1768C>A) n.1960C>A n.644C>A c.*509C>A (n.*509C>A) c.4253C>A (p.Thr1418Asn) n.9433C>A n.2898C>A c.5093C>A (p.Thr1698Asn) c.5177C>A (p.Thr1726Asn) c.5225C>A (p.Thr1742Asn) c.4199C>A (p.Thr1400Asn) c.3780C>A c.3341C>A (p.Thr1114Asn) c.*1158C>A (n.*1158C>A) c.4494C>A c.4070C>A (p.Thr1357Asn) c.5267C>A (p.Thr1756Asn) c.5264C>A (p.Thr1755Asn) c.5219C>A (p.Thr1740Asn) c.4343C>A (p.Thr1448Asn) c.4112C>A (p.Thr1371Asn) | gnomAD v4 |
10 | g.94298436C= | CA1928998391 | PLCE1 | c.4301C= (p.Thr1434=) c.*1768C= (n.*1768C=) n.1960C= n.644C= c.*509C= (n.*509C=) c.4253C= (p.Thr1418=) n.9433C= n.2898C= c.5093C= (p.Thr1698=) c.5177C= (p.Thr1726=) c.5225C= (p.Thr1742=) c.4199C= (p.Thr1400=) c.3780C= c.3341C= (p.Thr1114=) c.*1158C= (n.*1158C=) c.4494C= c.4070C= (p.Thr1357=) c.5267C= (p.Thr1756=) c.5264C= (p.Thr1755=) c.5219C= (p.Thr1740=) c.4343C= (p.Thr1448=) c.4112C= (p.Thr1371=) | |
10 | g.94298436C>G | CA377641770 | PLCE1 | c.4301C>G (p.Thr1434Ser) c.*1768C>G (n.*1768C>G) n.1960C>G n.644C>G c.*509C>G (n.*509C>G) c.4253C>G (p.Thr1418Ser) n.9433C>G n.2898C>G c.5093C>G (p.Thr1698Ser) c.5177C>G (p.Thr1726Ser) c.5225C>G (p.Thr1742Ser) c.4199C>G (p.Thr1400Ser) c.3780C>G c.3341C>G (p.Thr1114Ser) c.*1158C>G (n.*1158C>G) c.4494C>G c.4070C>G (p.Thr1357Ser) c.5267C>G (p.Thr1756Ser) c.5264C>G (p.Thr1755Ser) c.5219C>G (p.Thr1740Ser) c.4343C>G (p.Thr1448Ser) c.4112C>G (p.Thr1371Ser) | |
10 | g.94298436C>T | CA377641771 | PLCE1 | c.4301C>T (p.Thr1434Ile) c.*1768C>T (n.*1768C>T) n.1960C>T n.644C>T c.*509C>T (n.*509C>T) c.4253C>T (p.Thr1418Ile) n.9433C>T n.2898C>T c.5093C>T (p.Thr1698Ile) c.5177C>T (p.Thr1726Ile) c.5225C>T (p.Thr1742Ile) c.4199C>T (p.Thr1400Ile) c.3780C>T c.3341C>T (p.Thr1114Ile) c.*1158C>T (n.*1158C>T) c.4494C>T c.4070C>T (p.Thr1357Ile) c.5267C>T (p.Thr1756Ile) c.5264C>T (p.Thr1755Ile) c.5219C>T (p.Thr1740Ile) c.4343C>T (p.Thr1448Ile) c.4112C>T (p.Thr1371Ile) | dbSNP gnomAD v4 |
10 | g.94298437C>A | CA470986442 | PLCE1 | c.4302C>A (p.Thr1434=) c.*1769C>A (n.*1769C>A) n.1961C>A n.645C>A c.*510C>A (n.*510C>A) c.4254C>A (p.Thr1418=) n.9434C>A n.2899C>A c.5094C>A (p.Thr1698=) c.5178C>A (p.Thr1726=) c.5226C>A (p.Thr1742=) c.4200C>A (p.Thr1400=) c.3781C>A c.3342C>A (p.Thr1114=) c.*1159C>A (n.*1159C>A) c.4495C>A c.4071C>A (p.Thr1357=) c.5268C>A (p.Thr1756=) c.5265C>A (p.Thr1755=) c.5220C>A (p.Thr1740=) c.4344C>A (p.Thr1448=) c.4113C>A (p.Thr1371=) | |
10 | g.94298437C= | CA1928998392 | PLCE1 | c.4302C= (p.Thr1434=) c.*1769C= (n.*1769C=) n.1961C= n.645C= c.*510C= (n.*510C=) c.4254C= (p.Thr1418=) n.9434C= n.2899C= c.5094C= (p.Thr1698=) c.5178C= (p.Thr1726=) c.5226C= (p.Thr1742=) c.4200C= (p.Thr1400=) c.3781C= c.3342C= (p.Thr1114=) c.*1159C= (n.*1159C=) c.4495C= c.4071C= (p.Thr1357=) c.5268C= (p.Thr1756=) c.5265C= (p.Thr1755=) c.5220C= (p.Thr1740=) c.4344C= (p.Thr1448=) c.4113C= (p.Thr1371=) | |
10 | g.94298437C>G | CA470986443 | PLCE1 | c.4302C>G (p.Thr1434=) c.*1769C>G (n.*1769C>G) n.1961C>G n.645C>G c.*510C>G (n.*510C>G) c.4254C>G (p.Thr1418=) n.9434C>G n.2899C>G c.5094C>G (p.Thr1698=) c.5178C>G (p.Thr1726=) c.5226C>G (p.Thr1742=) c.4200C>G (p.Thr1400=) c.3781C>G c.3342C>G (p.Thr1114=) c.*1159C>G (n.*1159C>G) c.4495C>G c.4071C>G (p.Thr1357=) c.5268C>G (p.Thr1756=) c.5265C>G (p.Thr1755=) c.5220C>G (p.Thr1740=) c.4344C>G (p.Thr1448=) c.4113C>G (p.Thr1371=) | |
10 | g.94298437C>T | CA470986444 | PLCE1 | c.4302C>T (p.Thr1434=) c.*1769C>T (n.*1769C>T) n.1961C>T n.645C>T c.*510C>T (n.*510C>T) c.4254C>T (p.Thr1418=) n.9434C>T n.2899C>T c.5094C>T (p.Thr1698=) c.5178C>T (p.Thr1726=) c.5226C>T (p.Thr1742=) c.4200C>T (p.Thr1400=) c.3781C>T c.3342C>T (p.Thr1114=) c.*1159C>T (n.*1159C>T) c.4495C>T c.4071C>T (p.Thr1357=) c.5268C>T (p.Thr1756=) c.5265C>T (p.Thr1755=) c.5220C>T (p.Thr1740=) c.4344C>T (p.Thr1448=) c.4113C>T (p.Thr1371=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298438A>C | CA377641772 | PLCE1 | c.4303A>C (p.Thr1435Pro) c.*1770A>C (n.*1770A>C) n.1962A>C n.646A>C c.*511A>C (n.*511A>C) c.4255A>C (p.Thr1419Pro) n.9435A>C n.2900A>C c.5095A>C (p.Thr1699Pro) c.5179A>C (p.Thr1727Pro) c.5227A>C (p.Thr1743Pro) c.4201A>C (p.Thr1401Pro) c.3782A>C c.3343A>C (p.Thr1115Pro) c.*1160A>C (n.*1160A>C) c.4496A>C c.4072A>C (p.Thr1358Pro) c.5269A>C (p.Thr1757Pro) c.5266A>C (p.Thr1756Pro) c.5221A>C (p.Thr1741Pro) c.4345A>C (p.Thr1449Pro) c.4114A>C (p.Thr1372Pro) | |
10 | g.94298438A>G | CA377641773 | PLCE1 | c.4303A>G (p.Thr1435Ala) c.*1770A>G (n.*1770A>G) n.1962A>G n.646A>G c.*511A>G (n.*511A>G) c.4255A>G (p.Thr1419Ala) n.9435A>G n.2900A>G c.5095A>G (p.Thr1699Ala) c.5179A>G (p.Thr1727Ala) c.5227A>G (p.Thr1743Ala) c.4201A>G (p.Thr1401Ala) c.3782A>G c.3343A>G (p.Thr1115Ala) c.*1160A>G (n.*1160A>G) c.4496A>G c.4072A>G (p.Thr1358Ala) c.5269A>G (p.Thr1757Ala) c.5266A>G (p.Thr1756Ala) c.5221A>G (p.Thr1741Ala) c.4345A>G (p.Thr1449Ala) c.4114A>G (p.Thr1372Ala) | gnomAD v4 |
10 | g.94298438A>T | CA377641774 | PLCE1 | c.4303A>T (p.Thr1435Ser) c.*1770A>T (n.*1770A>T) n.1962A>T n.646A>T c.*511A>T (n.*511A>T) c.4255A>T (p.Thr1419Ser) n.9435A>T n.2900A>T c.5095A>T (p.Thr1699Ser) c.5179A>T (p.Thr1727Ser) c.5227A>T (p.Thr1743Ser) c.4201A>T (p.Thr1401Ser) c.3782A>T c.3343A>T (p.Thr1115Ser) c.*1160A>T (n.*1160A>T) c.4496A>T c.4072A>T (p.Thr1358Ser) c.5269A>T (p.Thr1757Ser) c.5266A>T (p.Thr1756Ser) c.5221A>T (p.Thr1741Ser) c.4345A>T (p.Thr1449Ser) c.4114A>T (p.Thr1372Ser) | |
10 | g.94298439C>A | CA377641775 | PLCE1 | c.4304C>A (p.Thr1435Lys) c.*1771C>A (n.*1771C>A) n.1963C>A n.647C>A c.*512C>A (n.*512C>A) c.4256C>A (p.Thr1419Lys) n.9436C>A n.2901C>A c.5096C>A (p.Thr1699Lys) c.5180C>A (p.Thr1727Lys) c.5228C>A (p.Thr1743Lys) c.4202C>A (p.Thr1401Lys) c.3783C>A c.3344C>A (p.Thr1115Lys) c.*1161C>A (n.*1161C>A) c.4497C>A c.4073C>A (p.Thr1358Lys) c.5270C>A (p.Thr1757Lys) c.5267C>A (p.Thr1756Lys) c.5222C>A (p.Thr1741Lys) c.4346C>A (p.Thr1449Lys) c.4115C>A (p.Thr1372Lys) | |
10 | g.94298439C= | CA1928998393 | PLCE1 | c.4304C= (p.Thr1435=) c.*1771C= (n.*1771C=) n.1963C= n.647C= c.*512C= (n.*512C=) c.4256C= (p.Thr1419=) n.9436C= n.2901C= c.5096C= (p.Thr1699=) c.5180C= (p.Thr1727=) c.5228C= (p.Thr1743=) c.4202C= (p.Thr1401=) c.3783C= c.3344C= (p.Thr1115=) c.*1161C= (n.*1161C=) c.4497C= c.4073C= (p.Thr1358=) c.5270C= (p.Thr1757=) c.5267C= (p.Thr1756=) c.5222C= (p.Thr1741=) c.4346C= (p.Thr1449=) c.4115C= (p.Thr1372=) | |
10 | g.94298439C>G | CA377641776 | PLCE1 | c.4304C>G (p.Thr1435Arg) c.*1771C>G (n.*1771C>G) n.1963C>G n.647C>G c.*512C>G (n.*512C>G) c.4256C>G (p.Thr1419Arg) n.9436C>G n.2901C>G c.5096C>G (p.Thr1699Arg) c.5180C>G (p.Thr1727Arg) c.5228C>G (p.Thr1743Arg) c.4202C>G (p.Thr1401Arg) c.3783C>G c.3344C>G (p.Thr1115Arg) c.*1161C>G (n.*1161C>G) c.4497C>G c.4073C>G (p.Thr1358Arg) c.5270C>G (p.Thr1757Arg) c.5267C>G (p.Thr1756Arg) c.5222C>G (p.Thr1741Arg) c.4346C>G (p.Thr1449Arg) c.4115C>G (p.Thr1372Arg) | |
10 | g.94298439C>T | CA5613322 | PLCE1 | c.4304C>T (p.Thr1435Met) c.*1771C>T (n.*1771C>T) n.1963C>T n.647C>T c.*512C>T (n.*512C>T) c.4256C>T (p.Thr1419Met) n.9436C>T n.2901C>T c.5096C>T (p.Thr1699Met) c.5180C>T (p.Thr1727Met) c.5228C>T (p.Thr1743Met) c.4202C>T (p.Thr1401Met) c.3783C>T c.3344C>T (p.Thr1115Met) c.*1161C>T (n.*1161C>T) c.4497C>T c.4073C>T (p.Thr1358Met) c.5270C>T (p.Thr1757Met) c.5267C>T (p.Thr1756Met) c.5222C>T (p.Thr1741Met) c.4346C>T (p.Thr1449Met) c.4115C>T (p.Thr1372Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298440G>A | CA5613323 | PLCE1 | c.4305G>A (p.Thr1435=) c.*1772G>A (n.*1772G>A) n.1964G>A n.648G>A c.*513G>A (n.*513G>A) c.4257G>A (p.Thr1419=) n.9437G>A n.2902G>A c.5097G>A (p.Thr1699=) c.5181G>A (p.Thr1727=) c.5229G>A (p.Thr1743=) c.4203G>A (p.Thr1401=) c.3784G>A c.3345G>A (p.Thr1115=) c.*1162G>A (n.*1162G>A) c.4498G>A c.4074G>A (p.Thr1358=) c.5271G>A (p.Thr1757=) c.5268G>A (p.Thr1756=) c.5223G>A (p.Thr1741=) c.4347G>A (p.Thr1449=) c.4116G>A (p.Thr1372=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298440G>C | CA470986446 | PLCE1 | c.4305G>C (p.Thr1435=) c.*1772G>C (n.*1772G>C) n.1964G>C n.648G>C c.*513G>C (n.*513G>C) c.4257G>C (p.Thr1419=) n.9437G>C n.2902G>C c.5097G>C (p.Thr1699=) c.5181G>C (p.Thr1727=) c.5229G>C (p.Thr1743=) c.4203G>C (p.Thr1401=) c.3784G>C c.3345G>C (p.Thr1115=) c.*1162G>C (n.*1162G>C) c.4498G>C c.4074G>C (p.Thr1358=) c.5271G>C (p.Thr1757=) c.5268G>C (p.Thr1756=) c.5223G>C (p.Thr1741=) c.4347G>C (p.Thr1449=) c.4116G>C (p.Thr1372=) | |
10 | g.94298440G= | CA1928998394 | PLCE1 | c.4305G= (p.Thr1435=) c.*1772G= (n.*1772G=) n.1964G= n.648G= c.*513G= (n.*513G=) c.4257G= (p.Thr1419=) n.9437G= n.2902G= c.5097G= (p.Thr1699=) c.5181G= (p.Thr1727=) c.5229G= (p.Thr1743=) c.4203G= (p.Thr1401=) c.3784G= c.3345G= (p.Thr1115=) c.*1162G= (n.*1162G=) c.4498G= c.4074G= (p.Thr1358=) c.5271G= (p.Thr1757=) c.5268G= (p.Thr1756=) c.5223G= (p.Thr1741=) c.4347G= (p.Thr1449=) c.4116G= (p.Thr1372=) | |
10 | g.94298440G>T | CA470986447 | PLCE1 | c.4305G>T (p.Thr1435=) c.*1772G>T (n.*1772G>T) n.1964G>T n.648G>T c.*513G>T (n.*513G>T) c.4257G>T (p.Thr1419=) n.9437G>T n.2902G>T c.5097G>T (p.Thr1699=) c.5181G>T (p.Thr1727=) c.5229G>T (p.Thr1743=) c.4203G>T (p.Thr1401=) c.3784G>T c.3345G>T (p.Thr1115=) c.*1162G>T (n.*1162G>T) c.4498G>T c.4074G>T (p.Thr1358=) c.5271G>T (p.Thr1757=) c.5268G>T (p.Thr1756=) c.5223G>T (p.Thr1741=) c.4347G>T (p.Thr1449=) c.4116G>T (p.Thr1372=) | |
10 | g.94298441T>A | CA377641779 | PLCE1 | c.4306T>A (p.Ser1436Thr) c.*1773T>A (n.*1773T>A) n.1965T>A n.649T>A c.*514T>A (n.*514T>A) c.4258T>A (p.Ser1420Thr) n.9438T>A n.2903T>A c.5098T>A (p.Ser1700Thr) c.5182T>A (p.Ser1728Thr) c.5230T>A (p.Ser1744Thr) c.4204T>A (p.Ser1402Thr) c.3785T>A c.3346T>A (p.Ser1116Thr) c.*1163T>A (n.*1163T>A) c.4499T>A c.4075T>A (p.Ser1359Thr) c.5272T>A (p.Ser1758Thr) c.5269T>A (p.Ser1757Thr) c.5224T>A (p.Ser1742Thr) c.4348T>A (p.Ser1450Thr) c.4117T>A (p.Ser1373Thr) | |
10 | g.94298441T>C | CA377641777 | PLCE1 | c.4306T>C (p.Ser1436Pro) c.*1773T>C (n.*1773T>C) n.1965T>C n.649T>C c.*514T>C (n.*514T>C) c.4258T>C (p.Ser1420Pro) n.9438T>C n.2903T>C c.5098T>C (p.Ser1700Pro) c.5182T>C (p.Ser1728Pro) c.5230T>C (p.Ser1744Pro) c.4204T>C (p.Ser1402Pro) c.3785T>C c.3346T>C (p.Ser1116Pro) c.*1163T>C (n.*1163T>C) c.4499T>C c.4075T>C (p.Ser1359Pro) c.5272T>C (p.Ser1758Pro) c.5269T>C (p.Ser1757Pro) c.5224T>C (p.Ser1742Pro) c.4348T>C (p.Ser1450Pro) c.4117T>C (p.Ser1373Pro) | |
10 | g.94298441T>G | CA377641778 | PLCE1 | c.4306T>G (p.Ser1436Ala) c.*1773T>G (n.*1773T>G) n.1965T>G n.649T>G c.*514T>G (n.*514T>G) c.4258T>G (p.Ser1420Ala) n.9438T>G n.2903T>G c.5098T>G (p.Ser1700Ala) c.5182T>G (p.Ser1728Ala) c.5230T>G (p.Ser1744Ala) c.4204T>G (p.Ser1402Ala) c.3785T>G c.3346T>G (p.Ser1116Ala) c.*1163T>G (n.*1163T>G) c.4499T>G c.4075T>G (p.Ser1359Ala) c.5272T>G (p.Ser1758Ala) c.5269T>G (p.Ser1757Ala) c.5224T>G (p.Ser1742Ala) c.4348T>G (p.Ser1450Ala) c.4117T>G (p.Ser1373Ala) | |
10 | g.94298441_94298450delinsTCCCTCAGTG | CA1928998395 | PLCE1 | c.4306_4315delinsTCCCTCAGTG (p.Ser1436=) c.*1773_*1782delinsTCCCTCAGTG (n.*1773_*1782delinsTCCCTCAGTG) n.1965_1974delinsTCCCTCAGTG n.649_658delinsTCCCTCAGTG c.*514_*523delinsTCCCTCAGTG (n.*514_*523delinsTCCCTCAGTG) c.4258_4267delinsTCCCTCAGTG (p.Ser1420=) n.9438_9447delinsTCCCTCAGTG n.2903_2912delinsTCCCTCAGTG c.5098_5107delinsTCCCTCAGTG (p.Ser1700=) c.5182_5191delinsTCCCTCAGTG (p.Ser1728=) c.5230_5239delinsTCCCTCAGTG (p.Ser1744=) c.4204_4213delinsTCCCTCAGTG (p.Ser1402=) c.3785_3794delinsTCCCTCAGTG c.3346_3355delinsTCCCTCAGTG (p.Ser1116=) c.*1163_*1172delinsTCCCTCAGTG (n.*1163_*1172delinsTCCCTCAGTG) c.4499_4508delinsTCCCTCAGTG c.4075_4084delinsTCCCTCAGTG (p.Ser1359=) c.5272_5281delinsTCCCTCAGTG (p.Ser1758=) c.5269_5278delinsTCCCTCAGTG (p.Ser1757=) c.5224_5233delinsTCCCTCAGTG (p.Ser1742=) c.4348_4357delinsTCCCTCAGTG (p.Ser1450=) c.4117_4126delinsTCCCTCAGTG (p.Ser1373=) | |
10 | g.94298442C>A | CA377641780 | PLCE1 | c.4307C>A (p.Ser1436Tyr) c.*1774C>A (n.*1774C>A) n.1966C>A n.650C>A c.*515C>A (n.*515C>A) c.4259C>A (p.Ser1420Tyr) n.9439C>A n.2904C>A c.5099C>A (p.Ser1700Tyr) c.5183C>A (p.Ser1728Tyr) c.5231C>A (p.Ser1744Tyr) c.4205C>A (p.Ser1402Tyr) c.3786C>A c.3347C>A (p.Ser1116Tyr) c.*1164C>A (n.*1164C>A) c.4500C>A c.4076C>A (p.Ser1359Tyr) c.5273C>A (p.Ser1758Tyr) c.5270C>A (p.Ser1757Tyr) c.5225C>A (p.Ser1742Tyr) c.4349C>A (p.Ser1450Tyr) c.4118C>A (p.Ser1373Tyr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298442C= | CA1928998397 | PLCE1 | c.4307C= (p.Ser1436=) c.*1774C= (n.*1774C=) n.1966C= n.650C= c.*515C= (n.*515C=) c.4259C= (p.Ser1420=) n.9439C= n.2904C= c.5099C= (p.Ser1700=) c.5183C= (p.Ser1728=) c.5231C= (p.Ser1744=) c.4205C= (p.Ser1402=) c.3786C= c.3347C= (p.Ser1116=) c.*1164C= (n.*1164C=) c.4500C= c.4076C= (p.Ser1359=) c.5273C= (p.Ser1758=) c.5270C= (p.Ser1757=) c.5225C= (p.Ser1742=) c.4349C= (p.Ser1450=) c.4118C= (p.Ser1373=) | |
10 | g.94298442C>G | CA377641781 | PLCE1 | c.4307C>G (p.Ser1436Cys) c.*1774C>G (n.*1774C>G) n.1966C>G n.650C>G c.*515C>G (n.*515C>G) c.4259C>G (p.Ser1420Cys) n.9439C>G n.2904C>G c.5099C>G (p.Ser1700Cys) c.5183C>G (p.Ser1728Cys) c.5231C>G (p.Ser1744Cys) c.4205C>G (p.Ser1402Cys) c.3786C>G c.3347C>G (p.Ser1116Cys) c.*1164C>G (n.*1164C>G) c.4500C>G c.4076C>G (p.Ser1359Cys) c.5273C>G (p.Ser1758Cys) c.5270C>G (p.Ser1757Cys) c.5225C>G (p.Ser1742Cys) c.4349C>G (p.Ser1450Cys) c.4118C>G (p.Ser1373Cys) | |
10 | g.94298442C>T | CA377641782 | PLCE1 | c.4307C>T (p.Ser1436Phe) c.*1774C>T (n.*1774C>T) n.1966C>T n.650C>T c.*515C>T (n.*515C>T) c.4259C>T (p.Ser1420Phe) n.9439C>T n.2904C>T c.5099C>T (p.Ser1700Phe) c.5183C>T (p.Ser1728Phe) c.5231C>T (p.Ser1744Phe) c.4205C>T (p.Ser1402Phe) c.3786C>T c.3347C>T (p.Ser1116Phe) c.*1164C>T (n.*1164C>T) c.4500C>T c.4076C>T (p.Ser1359Phe) c.5273C>T (p.Ser1758Phe) c.5270C>T (p.Ser1757Phe) c.5225C>T (p.Ser1742Phe) c.4349C>T (p.Ser1450Phe) c.4118C>T (p.Ser1373Phe) | |
10 | g.94298443_94298451del | CA1928998396 | PLCE1 | c.4308_4316del (p.Leu1437_Ala1439del) c.*1775_*1783del (n.*1775_*1783del) n.1967_1975del n.651_659del c.*516_*524del (n.*516_*524del) c.4260_4268del (p.Leu1421_Ala1423del) n.9440_9448del n.2905_2913del c.5100_5108del (p.Leu1701_Ala1703del) c.5184_5192del (p.Leu1729_Ala1731del) c.5232_5240del (p.Leu1745_Ala1747del) c.4206_4214del (p.Leu1403_Ala1405del) c.3787_3795del c.3348_3356del (p.Leu1117_Ala1119del) c.*1165_*1173del (n.*1165_*1173del) c.4501_4509del c.4077_4085del (p.Leu1360_Ala1362del) c.5274_5282del (p.Leu1759_Ala1761del) c.5271_5279del (p.Leu1758_Ala1760del) c.5226_5234del (p.Leu1743_Ala1745del) c.4350_4358del (p.Leu1451_Ala1453del) c.4119_4127del (p.Leu1374_Ala1376del) | dbSNP |
10 | g.94298443C>A | CA470986451 | PLCE1 | c.4308C>A (p.Ser1436=) c.*1775C>A (n.*1775C>A) n.1967C>A n.651C>A c.*516C>A (n.*516C>A) c.4260C>A (p.Ser1420=) n.9440C>A n.2905C>A c.5100C>A (p.Ser1700=) c.5184C>A (p.Ser1728=) c.5232C>A (p.Ser1744=) c.4206C>A (p.Ser1402=) c.3787C>A c.3348C>A (p.Ser1116=) c.*1165C>A (n.*1165C>A) c.4501C>A c.4077C>A (p.Ser1359=) c.5274C>A (p.Ser1758=) c.5271C>A (p.Ser1757=) c.5226C>A (p.Ser1742=) c.4350C>A (p.Ser1450=) c.4119C>A (p.Ser1373=) | |
10 | g.94298443C= | CA1928998398 | PLCE1 | c.4308C= (p.Ser1436=) c.*1775C= (n.*1775C=) n.1967C= n.651C= c.*516C= (n.*516C=) c.4260C= (p.Ser1420=) n.9440C= n.2905C= c.5100C= (p.Ser1700=) c.5184C= (p.Ser1728=) c.5232C= (p.Ser1744=) c.4206C= (p.Ser1402=) c.3787C= c.3348C= (p.Ser1116=) c.*1165C= (n.*1165C=) c.4501C= c.4077C= (p.Ser1359=) c.5274C= (p.Ser1758=) c.5271C= (p.Ser1757=) c.5226C= (p.Ser1742=) c.4350C= (p.Ser1450=) c.4119C= (p.Ser1373=) | |
10 | g.94298443C>G | CA470986453 | PLCE1 | c.4308C>G (p.Ser1436=) c.*1775C>G (n.*1775C>G) n.1967C>G n.651C>G c.*516C>G (n.*516C>G) c.4260C>G (p.Ser1420=) n.9440C>G n.2905C>G c.5100C>G (p.Ser1700=) c.5184C>G (p.Ser1728=) c.5232C>G (p.Ser1744=) c.4206C>G (p.Ser1402=) c.3787C>G c.3348C>G (p.Ser1116=) c.*1165C>G (n.*1165C>G) c.4501C>G c.4077C>G (p.Ser1359=) c.5274C>G (p.Ser1758=) c.5271C>G (p.Ser1757=) c.5226C>G (p.Ser1742=) c.4350C>G (p.Ser1450=) c.4119C>G (p.Ser1373=) | |
10 | g.94298443C>T | CA470986452 | PLCE1 | c.4308C>T (p.Ser1436=) c.*1775C>T (n.*1775C>T) n.1967C>T n.651C>T c.*516C>T (n.*516C>T) c.4260C>T (p.Ser1420=) n.9440C>T n.2905C>T c.5100C>T (p.Ser1700=) c.5184C>T (p.Ser1728=) c.5232C>T (p.Ser1744=) c.4206C>T (p.Ser1402=) c.3787C>T c.3348C>T (p.Ser1116=) c.*1165C>T (n.*1165C>T) c.4501C>T c.4077C>T (p.Ser1359=) c.5274C>T (p.Ser1758=) c.5271C>T (p.Ser1757=) c.5226C>T (p.Ser1742=) c.4350C>T (p.Ser1450=) c.4119C>T (p.Ser1373=) | dbSNP |
10 | g.94298444C>A | CA377641783 | PLCE1 | c.4309C>A (p.Leu1437Ile) c.*1776C>A (n.*1776C>A) n.1968C>A n.652C>A c.*517C>A (n.*517C>A) c.4261C>A (p.Leu1421Ile) n.9441C>A n.2906C>A c.5101C>A (p.Leu1701Ile) c.5185C>A (p.Leu1729Ile) c.5233C>A (p.Leu1745Ile) c.4207C>A (p.Leu1403Ile) c.3788C>A c.3349C>A (p.Leu1117Ile) c.*1166C>A (n.*1166C>A) c.4502C>A c.4078C>A (p.Leu1360Ile) c.5275C>A (p.Leu1759Ile) c.5272C>A (p.Leu1758Ile) c.5227C>A (p.Leu1743Ile) c.4351C>A (p.Leu1451Ile) c.4120C>A (p.Leu1374Ile) | COSMIC COSMIC COSMIC COSMIC |
10 | g.94298444C= | CA1928998399 | PLCE1 | c.4309C= (p.Leu1437=) c.*1776C= (n.*1776C=) n.1968C= n.652C= c.*517C= (n.*517C=) c.4261C= (p.Leu1421=) n.9441C= n.2906C= c.5101C= (p.Leu1701=) c.5185C= (p.Leu1729=) c.5233C= (p.Leu1745=) c.4207C= (p.Leu1403=) c.3788C= c.3349C= (p.Leu1117=) c.*1166C= (n.*1166C=) c.4502C= c.4078C= (p.Leu1360=) c.5275C= (p.Leu1759=) c.5272C= (p.Leu1758=) c.5227C= (p.Leu1743=) c.4351C= (p.Leu1451=) c.4120C= (p.Leu1374=) | |
10 | g.94298444C>G | CA377641784 | PLCE1 | c.4309C>G (p.Leu1437Val) c.*1776C>G (n.*1776C>G) n.1968C>G n.652C>G c.*517C>G (n.*517C>G) c.4261C>G (p.Leu1421Val) n.9441C>G n.2906C>G c.5101C>G (p.Leu1701Val) c.5185C>G (p.Leu1729Val) c.5233C>G (p.Leu1745Val) c.4207C>G (p.Leu1403Val) c.3788C>G c.3349C>G (p.Leu1117Val) c.*1166C>G (n.*1166C>G) c.4502C>G c.4078C>G (p.Leu1360Val) c.5275C>G (p.Leu1759Val) c.5272C>G (p.Leu1758Val) c.5227C>G (p.Leu1743Val) c.4351C>G (p.Leu1451Val) c.4120C>G (p.Leu1374Val) | |
10 | g.94298444C>T | CA377641785 | PLCE1 | c.4309C>T (p.Leu1437Phe) c.*1776C>T (n.*1776C>T) n.1968C>T n.652C>T c.*517C>T (n.*517C>T) c.4261C>T (p.Leu1421Phe) n.9441C>T n.2906C>T c.5101C>T (p.Leu1701Phe) c.5185C>T (p.Leu1729Phe) c.5233C>T (p.Leu1745Phe) c.4207C>T (p.Leu1403Phe) c.3788C>T c.3349C>T (p.Leu1117Phe) c.*1166C>T (n.*1166C>T) c.4502C>T c.4078C>T (p.Leu1360Phe) c.5275C>T (p.Leu1759Phe) c.5272C>T (p.Leu1758Phe) c.5227C>T (p.Leu1743Phe) c.4351C>T (p.Leu1451Phe) c.4120C>T (p.Leu1374Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298445T>A | CA377641786 | PLCE1 | c.4310T>A (p.Leu1437His) c.*1777T>A (n.*1777T>A) n.1969T>A n.653T>A c.*518T>A (n.*518T>A) c.4262T>A (p.Leu1421His) n.9442T>A n.2907T>A c.5102T>A (p.Leu1701His) c.5186T>A (p.Leu1729His) c.5234T>A (p.Leu1745His) c.4208T>A (p.Leu1403His) c.3789T>A c.3350T>A (p.Leu1117His) c.*1167T>A (n.*1167T>A) c.4503T>A c.4079T>A (p.Leu1360His) c.5276T>A (p.Leu1759His) c.5273T>A (p.Leu1758His) c.5228T>A (p.Leu1743His) c.4352T>A (p.Leu1451His) c.4121T>A (p.Leu1374His) | |
10 | g.94298445T>C | CA377641787 | PLCE1 | c.4310T>C (p.Leu1437Pro) c.*1777T>C (n.*1777T>C) n.1969T>C n.653T>C c.*518T>C (n.*518T>C) c.4262T>C (p.Leu1421Pro) n.9442T>C n.2907T>C c.5102T>C (p.Leu1701Pro) c.5186T>C (p.Leu1729Pro) c.5234T>C (p.Leu1745Pro) c.4208T>C (p.Leu1403Pro) c.3789T>C c.3350T>C (p.Leu1117Pro) c.*1167T>C (n.*1167T>C) c.4503T>C c.4079T>C (p.Leu1360Pro) c.5276T>C (p.Leu1759Pro) c.5273T>C (p.Leu1758Pro) c.5228T>C (p.Leu1743Pro) c.4352T>C (p.Leu1451Pro) c.4121T>C (p.Leu1374Pro) | |
10 | g.94298445T>G | CA377641788 | PLCE1 | c.4310T>G (p.Leu1437Arg) c.*1777T>G (n.*1777T>G) n.1969T>G n.653T>G c.*518T>G (n.*518T>G) c.4262T>G (p.Leu1421Arg) n.9442T>G n.2907T>G c.5102T>G (p.Leu1701Arg) c.5186T>G (p.Leu1729Arg) c.5234T>G (p.Leu1745Arg) c.4208T>G (p.Leu1403Arg) c.3789T>G c.3350T>G (p.Leu1117Arg) c.*1167T>G (n.*1167T>G) c.4503T>G c.4079T>G (p.Leu1360Arg) c.5276T>G (p.Leu1759Arg) c.5273T>G (p.Leu1758Arg) c.5228T>G (p.Leu1743Arg) c.4352T>G (p.Leu1451Arg) c.4121T>G (p.Leu1374Arg) | |
10 | g.94298446C>A | CA470986454 | PLCE1 | c.4311C>A (p.Leu1437=) c.*1778C>A (n.*1778C>A) n.1970C>A n.654C>A c.*519C>A (n.*519C>A) c.4263C>A (p.Leu1421=) n.9443C>A n.2908C>A c.5103C>A (p.Leu1701=) c.5187C>A (p.Leu1729=) c.5235C>A (p.Leu1745=) c.4209C>A (p.Leu1403=) c.3790C>A c.3351C>A (p.Leu1117=) c.*1168C>A (n.*1168C>A) c.4504C>A c.4080C>A (p.Leu1360=) c.5277C>A (p.Leu1759=) c.5274C>A (p.Leu1758=) c.5229C>A (p.Leu1743=) c.4353C>A (p.Leu1451=) c.4122C>A (p.Leu1374=) | |
10 | g.94298446C>G | CA470986455 | PLCE1 | c.4311C>G (p.Leu1437=) c.*1778C>G (n.*1778C>G) n.1970C>G n.654C>G c.*519C>G (n.*519C>G) c.4263C>G (p.Leu1421=) n.9443C>G n.2908C>G c.5103C>G (p.Leu1701=) c.5187C>G (p.Leu1729=) c.5235C>G (p.Leu1745=) c.4209C>G (p.Leu1403=) c.3790C>G c.3351C>G (p.Leu1117=) c.*1168C>G (n.*1168C>G) c.4504C>G c.4080C>G (p.Leu1360=) c.5277C>G (p.Leu1759=) c.5274C>G (p.Leu1758=) c.5229C>G (p.Leu1743=) c.4353C>G (p.Leu1451=) c.4122C>G (p.Leu1374=) | |
10 | g.94298446C>T | CA470986456 | PLCE1 | c.4311C>T (p.Leu1437=) c.*1778C>T (n.*1778C>T) n.1970C>T n.654C>T c.*519C>T (n.*519C>T) c.4263C>T (p.Leu1421=) n.9443C>T n.2908C>T c.5103C>T (p.Leu1701=) c.5187C>T (p.Leu1729=) c.5235C>T (p.Leu1745=) c.4209C>T (p.Leu1403=) c.3790C>T c.3351C>T (p.Leu1117=) c.*1168C>T (n.*1168C>T) c.4504C>T c.4080C>T (p.Leu1360=) c.5277C>T (p.Leu1759=) c.5274C>T (p.Leu1758=) c.5229C>T (p.Leu1743=) c.4353C>T (p.Leu1451=) c.4122C>T (p.Leu1374=) | |
10 | g.94298447A>C | CA377641789 | PLCE1 | c.4312A>C (p.Ser1438Arg) c.*1779A>C (n.*1779A>C) n.1971A>C n.655A>C c.*520A>C (n.*520A>C) c.4264A>C (p.Ser1422Arg) n.9444A>C n.2909A>C c.5104A>C (p.Ser1702Arg) c.5188A>C (p.Ser1730Arg) c.5236A>C (p.Ser1746Arg) c.4210A>C (p.Ser1404Arg) c.3791A>C c.3352A>C (p.Ser1118Arg) c.*1169A>C (n.*1169A>C) c.4505A>C c.4081A>C (p.Ser1361Arg) c.5278A>C (p.Ser1760Arg) c.5275A>C (p.Ser1759Arg) c.5230A>C (p.Ser1744Arg) c.4354A>C (p.Ser1452Arg) c.4123A>C (p.Ser1375Arg) | |
10 | g.94298447A>G | CA377641790 | PLCE1 | c.4312A>G (p.Ser1438Gly) c.*1779A>G (n.*1779A>G) n.1971A>G n.655A>G c.*520A>G (n.*520A>G) c.4264A>G (p.Ser1422Gly) n.9444A>G n.2909A>G c.5104A>G (p.Ser1702Gly) c.5188A>G (p.Ser1730Gly) c.5236A>G (p.Ser1746Gly) c.4210A>G (p.Ser1404Gly) c.3791A>G c.3352A>G (p.Ser1118Gly) c.*1169A>G (n.*1169A>G) c.4505A>G c.4081A>G (p.Ser1361Gly) c.5278A>G (p.Ser1760Gly) c.5275A>G (p.Ser1759Gly) c.5230A>G (p.Ser1744Gly) c.4354A>G (p.Ser1452Gly) c.4123A>G (p.Ser1375Gly) | |
10 | g.94298447A>T | CA377641791 | PLCE1 | c.4312A>T (p.Ser1438Cys) c.*1779A>T (n.*1779A>T) n.1971A>T n.655A>T c.*520A>T (n.*520A>T) c.4264A>T (p.Ser1422Cys) n.9444A>T n.2909A>T c.5104A>T (p.Ser1702Cys) c.5188A>T (p.Ser1730Cys) c.5236A>T (p.Ser1746Cys) c.4210A>T (p.Ser1404Cys) c.3791A>T c.3352A>T (p.Ser1118Cys) c.*1169A>T (n.*1169A>T) c.4505A>T c.4081A>T (p.Ser1361Cys) c.5278A>T (p.Ser1760Cys) c.5275A>T (p.Ser1759Cys) c.5230A>T (p.Ser1744Cys) c.4354A>T (p.Ser1452Cys) c.4123A>T (p.Ser1375Cys) | |
10 | g.94298448G>A | CA377641793 | PLCE1 | c.4313G>A (p.Ser1438Asn) c.*1780G>A (n.*1780G>A) n.1972G>A n.656G>A c.*521G>A (n.*521G>A) c.4265G>A (p.Ser1422Asn) n.9445G>A n.2910G>A c.5105G>A (p.Ser1702Asn) c.5189G>A (p.Ser1730Asn) c.5237G>A (p.Ser1746Asn) c.4211G>A (p.Ser1404Asn) c.3792G>A c.3353G>A (p.Ser1118Asn) c.*1170G>A (n.*1170G>A) c.4506G>A c.4082G>A (p.Ser1361Asn) c.5279G>A (p.Ser1760Asn) c.5276G>A (p.Ser1759Asn) c.5231G>A (p.Ser1744Asn) c.4355G>A (p.Ser1452Asn) c.4124G>A (p.Ser1375Asn) | |
10 | g.94298448G>C | CA377641794 | PLCE1 | c.4313G>C (p.Ser1438Thr) c.*1780G>C (n.*1780G>C) n.1972G>C n.656G>C c.*521G>C (n.*521G>C) c.4265G>C (p.Ser1422Thr) n.9445G>C n.2910G>C c.5105G>C (p.Ser1702Thr) c.5189G>C (p.Ser1730Thr) c.5237G>C (p.Ser1746Thr) c.4211G>C (p.Ser1404Thr) c.3792G>C c.3353G>C (p.Ser1118Thr) c.*1170G>C (n.*1170G>C) c.4506G>C c.4082G>C (p.Ser1361Thr) c.5279G>C (p.Ser1760Thr) c.5276G>C (p.Ser1759Thr) c.5231G>C (p.Ser1744Thr) c.4355G>C (p.Ser1452Thr) c.4124G>C (p.Ser1375Thr) | |
10 | g.94298448G>T | CA377641792 | PLCE1 | c.4313G>T (p.Ser1438Ile) c.*1780G>T (n.*1780G>T) n.1972G>T n.656G>T c.*521G>T (n.*521G>T) c.4265G>T (p.Ser1422Ile) n.9445G>T n.2910G>T c.5105G>T (p.Ser1702Ile) c.5189G>T (p.Ser1730Ile) c.5237G>T (p.Ser1746Ile) c.4211G>T (p.Ser1404Ile) c.3792G>T c.3353G>T (p.Ser1118Ile) c.*1170G>T (n.*1170G>T) c.4506G>T c.4082G>T (p.Ser1361Ile) c.5279G>T (p.Ser1760Ile) c.5276G>T (p.Ser1759Ile) c.5231G>T (p.Ser1744Ile) c.4355G>T (p.Ser1452Ile) c.4124G>T (p.Ser1375Ile) | |
10 | g.94298449T>A | CA377641795 | PLCE1 | c.4314T>A (p.Ser1438Arg) c.*1781T>A (n.*1781T>A) n.1973T>A n.657T>A c.*522T>A (n.*522T>A) c.4266T>A (p.Ser1422Arg) n.9446T>A n.2911T>A c.5106T>A (p.Ser1702Arg) c.5190T>A (p.Ser1730Arg) c.5238T>A (p.Ser1746Arg) c.4212T>A (p.Ser1404Arg) c.3793T>A c.3354T>A (p.Ser1118Arg) c.*1171T>A (n.*1171T>A) c.4507T>A c.4083T>A (p.Ser1361Arg) c.5280T>A (p.Ser1760Arg) c.5277T>A (p.Ser1759Arg) c.5232T>A (p.Ser1744Arg) c.4356T>A (p.Ser1452Arg) c.4125T>A (p.Ser1375Arg) | |
10 | g.94298449T>C | CA470986460 | PLCE1 | c.4314T>C (p.Ser1438=) c.*1781T>C (n.*1781T>C) n.1973T>C n.657T>C c.*522T>C (n.*522T>C) c.4266T>C (p.Ser1422=) n.9446T>C n.2911T>C c.5106T>C (p.Ser1702=) c.5190T>C (p.Ser1730=) c.5238T>C (p.Ser1746=) c.4212T>C (p.Ser1404=) c.3793T>C c.3354T>C (p.Ser1118=) c.*1171T>C (n.*1171T>C) c.4507T>C c.4083T>C (p.Ser1361=) c.5280T>C (p.Ser1760=) c.5277T>C (p.Ser1759=) c.5232T>C (p.Ser1744=) c.4356T>C (p.Ser1452=) c.4125T>C (p.Ser1375=) | |
10 | g.94298449T>G | CA377641796 | PLCE1 | c.4314T>G (p.Ser1438Arg) c.*1781T>G (n.*1781T>G) n.1973T>G n.657T>G c.*522T>G (n.*522T>G) c.4266T>G (p.Ser1422Arg) n.9446T>G n.2911T>G c.5106T>G (p.Ser1702Arg) c.5190T>G (p.Ser1730Arg) c.5238T>G (p.Ser1746Arg) c.4212T>G (p.Ser1404Arg) c.3793T>G c.3354T>G (p.Ser1118Arg) c.*1171T>G (n.*1171T>G) c.4507T>G c.4083T>G (p.Ser1361Arg) c.5280T>G (p.Ser1760Arg) c.5277T>G (p.Ser1759Arg) c.5232T>G (p.Ser1744Arg) c.4356T>G (p.Ser1452Arg) c.4125T>G (p.Ser1375Arg) | |
10 | g.94298450G>A | CA377641797 | PLCE1 | c.4315G>A (p.Ala1439Thr) c.*1782G>A (n.*1782G>A) n.1974G>A n.658G>A c.*523G>A (n.*523G>A) c.4267G>A (p.Ala1423Thr) n.9447G>A n.2912G>A c.5107G>A (p.Ala1703Thr) c.5191G>A (p.Ala1731Thr) c.5239G>A (p.Ala1747Thr) c.4213G>A (p.Ala1405Thr) c.3794G>A c.3355G>A (p.Ala1119Thr) c.*1172G>A (n.*1172G>A) c.4508G>A c.4084G>A (p.Ala1362Thr) c.5281G>A (p.Ala1761Thr) c.5278G>A (p.Ala1760Thr) c.5233G>A (p.Ala1745Thr) c.4357G>A (p.Ala1453Thr) c.4126G>A (p.Ala1376Thr) | |
10 | g.94298450G>C | CA377641798 | PLCE1 | c.4315G>C (p.Ala1439Pro) c.*1782G>C (n.*1782G>C) n.1974G>C n.658G>C c.*523G>C (n.*523G>C) c.4267G>C (p.Ala1423Pro) n.9447G>C n.2912G>C c.5107G>C (p.Ala1703Pro) c.5191G>C (p.Ala1731Pro) c.5239G>C (p.Ala1747Pro) c.4213G>C (p.Ala1405Pro) c.3794G>C c.3355G>C (p.Ala1119Pro) c.*1172G>C (n.*1172G>C) c.4508G>C c.4084G>C (p.Ala1362Pro) c.5281G>C (p.Ala1761Pro) c.5278G>C (p.Ala1760Pro) c.5233G>C (p.Ala1745Pro) c.4357G>C (p.Ala1453Pro) c.4126G>C (p.Ala1376Pro) | |
10 | g.94298450G>T | CA377641799 | PLCE1 | c.4315G>T (p.Ala1439Ser) c.*1782G>T (n.*1782G>T) n.1974G>T n.658G>T c.*523G>T (n.*523G>T) c.4267G>T (p.Ala1423Ser) n.9447G>T n.2912G>T c.5107G>T (p.Ala1703Ser) c.5191G>T (p.Ala1731Ser) c.5239G>T (p.Ala1747Ser) c.4213G>T (p.Ala1405Ser) c.3794G>T c.3355G>T (p.Ala1119Ser) c.*1172G>T (n.*1172G>T) c.4508G>T c.4084G>T (p.Ala1362Ser) c.5281G>T (p.Ala1761Ser) c.5278G>T (p.Ala1760Ser) c.5233G>T (p.Ala1745Ser) c.4357G>T (p.Ala1453Ser) c.4126G>T (p.Ala1376Ser) | |
10 | g.94298451C>A | CA377641800 | PLCE1 | c.4316C>A (p.Ala1439Asp) c.*1783C>A (n.*1783C>A) n.1975C>A n.659C>A c.*524C>A (n.*524C>A) c.4268C>A (p.Ala1423Asp) n.9448C>A n.2913C>A c.5108C>A (p.Ala1703Asp) c.5192C>A (p.Ala1731Asp) c.5240C>A (p.Ala1747Asp) c.4214C>A (p.Ala1405Asp) c.3795C>A c.3356C>A (p.Ala1119Asp) c.*1173C>A (n.*1173C>A) c.4509C>A c.4085C>A (p.Ala1362Asp) c.5282C>A (p.Ala1761Asp) c.5279C>A (p.Ala1760Asp) c.5234C>A (p.Ala1745Asp) c.4358C>A (p.Ala1453Asp) c.4127C>A (p.Ala1376Asp) | |
10 | g.94298451C= | CA1928998400 | PLCE1 | c.4316C= (p.Ala1439=) c.*1783C= (n.*1783C=) n.1975C= n.659C= c.*524C= (n.*524C=) c.4268C= (p.Ala1423=) n.9448C= n.2913C= c.5108C= (p.Ala1703=) c.5192C= (p.Ala1731=) c.5240C= (p.Ala1747=) c.4214C= (p.Ala1405=) c.3795C= c.3356C= (p.Ala1119=) c.*1173C= (n.*1173C=) c.4509C= c.4085C= (p.Ala1362=) c.5282C= (p.Ala1761=) c.5279C= (p.Ala1760=) c.5234C= (p.Ala1745=) c.4358C= (p.Ala1453=) c.4127C= (p.Ala1376=) | |
10 | g.94298451C>G | CA377641801 | PLCE1 | c.4316C>G (p.Ala1439Gly) c.*1783C>G (n.*1783C>G) n.1975C>G n.659C>G c.*524C>G (n.*524C>G) c.4268C>G (p.Ala1423Gly) n.9448C>G n.2913C>G c.5108C>G (p.Ala1703Gly) c.5192C>G (p.Ala1731Gly) c.5240C>G (p.Ala1747Gly) c.4214C>G (p.Ala1405Gly) c.3795C>G c.3356C>G (p.Ala1119Gly) c.*1173C>G (n.*1173C>G) c.4509C>G c.4085C>G (p.Ala1362Gly) c.5282C>G (p.Ala1761Gly) c.5279C>G (p.Ala1760Gly) c.5234C>G (p.Ala1745Gly) c.4358C>G (p.Ala1453Gly) c.4127C>G (p.Ala1376Gly) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298451C>T | CA377641802 | PLCE1 | c.4316C>T (p.Ala1439Val) c.*1783C>T (n.*1783C>T) n.1975C>T n.659C>T c.*524C>T (n.*524C>T) c.4268C>T (p.Ala1423Val) n.9448C>T n.2913C>T c.5108C>T (p.Ala1703Val) c.5192C>T (p.Ala1731Val) c.5240C>T (p.Ala1747Val) c.4214C>T (p.Ala1405Val) c.3795C>T c.3356C>T (p.Ala1119Val) c.*1173C>T (n.*1173C>T) c.4509C>T c.4085C>T (p.Ala1362Val) c.5282C>T (p.Ala1761Val) c.5279C>T (p.Ala1760Val) c.5234C>T (p.Ala1745Val) c.4358C>T (p.Ala1453Val) c.4127C>T (p.Ala1376Val) | dbSNP gnomAD v4 |
10 | g.94298452T>A | CA211599625 | PLCE1 | c.4317T>A (p.Ala1439=) c.*1784T>A (n.*1784T>A) n.1976T>A n.660T>A c.*525T>A (n.*525T>A) c.4269T>A (p.Ala1423=) n.9449T>A n.2914T>A c.5109T>A (p.Ala1703=) c.5193T>A (p.Ala1731=) c.5241T>A (p.Ala1747=) c.4215T>A (p.Ala1405=) c.3796T>A c.3357T>A (p.Ala1119=) c.*1174T>A (n.*1174T>A) c.4510T>A c.4086T>A (p.Ala1362=) c.5283T>A (p.Ala1761=) c.5280T>A (p.Ala1760=) c.5235T>A (p.Ala1745=) c.4359T>A (p.Ala1453=) c.4128T>A (p.Ala1376=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298452T>C | CA470986462 | PLCE1 | c.4317T>C (p.Ala1439=) c.*1784T>C (n.*1784T>C) n.1976T>C n.660T>C c.*525T>C (n.*525T>C) c.4269T>C (p.Ala1423=) n.9449T>C n.2914T>C c.5109T>C (p.Ala1703=) c.5193T>C (p.Ala1731=) c.5241T>C (p.Ala1747=) c.4215T>C (p.Ala1405=) c.3796T>C c.3357T>C (p.Ala1119=) c.*1174T>C (n.*1174T>C) c.4510T>C c.4086T>C (p.Ala1362=) c.5283T>C (p.Ala1761=) c.5280T>C (p.Ala1760=) c.5235T>C (p.Ala1745=) c.4359T>C (p.Ala1453=) c.4128T>C (p.Ala1376=) | |
10 | g.94298452T>G | CA470986461 | PLCE1 | c.4317T>G (p.Ala1439=) c.*1784T>G (n.*1784T>G) n.1976T>G n.660T>G c.*525T>G (n.*525T>G) c.4269T>G (p.Ala1423=) n.9449T>G n.2914T>G c.5109T>G (p.Ala1703=) c.5193T>G (p.Ala1731=) c.5241T>G (p.Ala1747=) c.4215T>G (p.Ala1405=) c.3796T>G c.3357T>G (p.Ala1119=) c.*1174T>G (n.*1174T>G) c.4510T>G c.4086T>G (p.Ala1362=) c.5283T>G (p.Ala1761=) c.5280T>G (p.Ala1760=) c.5235T>G (p.Ala1745=) c.4359T>G (p.Ala1453=) c.4128T>G (p.Ala1376=) | |
10 | g.94298452T= | CA1928998401 | PLCE1 | c.4317T= (p.Ala1439=) c.*1784T= (n.*1784T=) n.1976T= n.660T= c.*525T= (n.*525T=) c.4269T= (p.Ala1423=) n.9449T= n.2914T= c.5109T= (p.Ala1703=) c.5193T= (p.Ala1731=) c.5241T= (p.Ala1747=) c.4215T= (p.Ala1405=) c.3796T= c.3357T= (p.Ala1119=) c.*1174T= (n.*1174T=) c.4510T= c.4086T= (p.Ala1362=) c.5283T= (p.Ala1761=) c.5280T= (p.Ala1760=) c.5235T= (p.Ala1745=) c.4359T= (p.Ala1453=) c.4128T= (p.Ala1376=) | |
10 | g.94298453A>C | CA377641803 | PLCE1 | c.4318A>C (p.Ile1440Leu) c.*1785A>C (n.*1785A>C) n.1977A>C n.661A>C c.*526A>C (n.*526A>C) c.4270A>C (p.Ile1424Leu) n.9450A>C n.2915A>C c.5110A>C (p.Ile1704Leu) c.5194A>C (p.Ile1732Leu) c.5242A>C (p.Ile1748Leu) c.4216A>C (p.Ile1406Leu) c.3797A>C c.3358A>C (p.Ile1120Leu) c.*1175A>C (n.*1175A>C) c.4511A>C c.4087A>C (p.Ile1363Leu) c.5284A>C (p.Ile1762Leu) c.5281A>C (p.Ile1761Leu) c.5236A>C (p.Ile1746Leu) c.4360A>C (p.Ile1454Leu) c.4129A>C (p.Ile1377Leu) | |
10 | g.94298453A>G | CA377641804 | PLCE1 | c.4318A>G (p.Ile1440Val) c.*1785A>G (n.*1785A>G) n.1977A>G n.661A>G c.*526A>G (n.*526A>G) c.4270A>G (p.Ile1424Val) n.9450A>G n.2915A>G c.5110A>G (p.Ile1704Val) c.5194A>G (p.Ile1732Val) c.5242A>G (p.Ile1748Val) c.4216A>G (p.Ile1406Val) c.3797A>G c.3358A>G (p.Ile1120Val) c.*1175A>G (n.*1175A>G) c.4511A>G c.4087A>G (p.Ile1363Val) c.5284A>G (p.Ile1762Val) c.5281A>G (p.Ile1761Val) c.5236A>G (p.Ile1746Val) c.4360A>G (p.Ile1454Val) c.4129A>G (p.Ile1377Val) | gnomAD v4 |
10 | g.94298453A>T | CA377641805 | PLCE1 | c.4318A>T (p.Ile1440Phe) c.*1785A>T (n.*1785A>T) n.1977A>T n.661A>T c.*526A>T (n.*526A>T) c.4270A>T (p.Ile1424Phe) n.9450A>T n.2915A>T c.5110A>T (p.Ile1704Phe) c.5194A>T (p.Ile1732Phe) c.5242A>T (p.Ile1748Phe) c.4216A>T (p.Ile1406Phe) c.3797A>T c.3358A>T (p.Ile1120Phe) c.*1175A>T (n.*1175A>T) c.4511A>T c.4087A>T (p.Ile1363Phe) c.5284A>T (p.Ile1762Phe) c.5281A>T (p.Ile1761Phe) c.5236A>T (p.Ile1746Phe) c.4360A>T (p.Ile1454Phe) c.4129A>T (p.Ile1377Phe) | |
10 | g.94298454T>A | CA377641806 | PLCE1 | c.4319T>A (p.Ile1440Asn) c.*1786T>A (n.*1786T>A) n.1978T>A n.662T>A c.*527T>A (n.*527T>A) c.4271T>A (p.Ile1424Asn) n.9451T>A n.2916T>A c.5111T>A (p.Ile1704Asn) c.5195T>A (p.Ile1732Asn) c.5243T>A (p.Ile1748Asn) c.4217T>A (p.Ile1406Asn) c.3798T>A c.3359T>A (p.Ile1120Asn) c.*1176T>A (n.*1176T>A) c.4512T>A c.4088T>A (p.Ile1363Asn) c.5285T>A (p.Ile1762Asn) c.5282T>A (p.Ile1761Asn) c.5237T>A (p.Ile1746Asn) c.4361T>A (p.Ile1454Asn) c.4130T>A (p.Ile1377Asn) | gnomAD v4 |
10 | g.94298454T>C | CA377641807 | PLCE1 | c.4319T>C (p.Ile1440Thr) c.*1786T>C (n.*1786T>C) n.1978T>C n.662T>C c.*527T>C (n.*527T>C) c.4271T>C (p.Ile1424Thr) n.9451T>C n.2916T>C c.5111T>C (p.Ile1704Thr) c.5195T>C (p.Ile1732Thr) c.5243T>C (p.Ile1748Thr) c.4217T>C (p.Ile1406Thr) c.3798T>C c.3359T>C (p.Ile1120Thr) c.*1176T>C (n.*1176T>C) c.4512T>C c.4088T>C (p.Ile1363Thr) c.5285T>C (p.Ile1762Thr) c.5282T>C (p.Ile1761Thr) c.5237T>C (p.Ile1746Thr) c.4361T>C (p.Ile1454Thr) c.4130T>C (p.Ile1377Thr) | |
10 | g.94298454T>G | CA377641808 | PLCE1 | c.4319T>G (p.Ile1440Ser) c.*1786T>G (n.*1786T>G) n.1978T>G n.662T>G c.*527T>G (n.*527T>G) c.4271T>G (p.Ile1424Ser) n.9451T>G n.2916T>G c.5111T>G (p.Ile1704Ser) c.5195T>G (p.Ile1732Ser) c.5243T>G (p.Ile1748Ser) c.4217T>G (p.Ile1406Ser) c.3798T>G c.3359T>G (p.Ile1120Ser) c.*1176T>G (n.*1176T>G) c.4512T>G c.4088T>G (p.Ile1363Ser) c.5285T>G (p.Ile1762Ser) c.5282T>G (p.Ile1761Ser) c.5237T>G (p.Ile1746Ser) c.4361T>G (p.Ile1454Ser) c.4130T>G (p.Ile1377Ser) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298454T= | CA1928998402 | PLCE1 | c.4319T= (p.Ile1440=) c.*1786T= (n.*1786T=) n.1978T= n.662T= c.*527T= (n.*527T=) c.4271T= (p.Ile1424=) n.9451T= n.2916T= c.5111T= (p.Ile1704=) c.5195T= (p.Ile1732=) c.5243T= (p.Ile1748=) c.4217T= (p.Ile1406=) c.3798T= c.3359T= (p.Ile1120=) c.*1176T= (n.*1176T=) c.4512T= c.4088T= (p.Ile1363=) c.5285T= (p.Ile1762=) c.5282T= (p.Ile1761=) c.5237T= (p.Ile1746=) c.4361T= (p.Ile1454=) c.4130T= (p.Ile1377=) | |
10 | g.94298455C>A | CA470986463 | PLCE1 | c.4320C>A (p.Ile1440=) c.*1787C>A (n.*1787C>A) n.1979C>A n.663C>A c.*528C>A (n.*528C>A) c.4272C>A (p.Ile1424=) n.9452C>A n.2917C>A c.5112C>A (p.Ile1704=) c.5196C>A (p.Ile1732=) c.5244C>A (p.Ile1748=) c.4218C>A (p.Ile1406=) c.3799C>A c.3360C>A (p.Ile1120=) c.*1177C>A (n.*1177C>A) c.4513C>A c.4089C>A (p.Ile1363=) c.5286C>A (p.Ile1762=) c.5283C>A (p.Ile1761=) c.5238C>A (p.Ile1746=) c.4362C>A (p.Ile1454=) c.4131C>A (p.Ile1377=) | |
10 | g.94298455C>G | CA377641809 | PLCE1 | c.4320C>G (p.Ile1440Met) c.*1787C>G (n.*1787C>G) n.1979C>G n.663C>G c.*528C>G (n.*528C>G) c.4272C>G (p.Ile1424Met) n.9452C>G n.2917C>G c.5112C>G (p.Ile1704Met) c.5196C>G (p.Ile1732Met) c.5244C>G (p.Ile1748Met) c.4218C>G (p.Ile1406Met) c.3799C>G c.3360C>G (p.Ile1120Met) c.*1177C>G (n.*1177C>G) c.4513C>G c.4089C>G (p.Ile1363Met) c.5286C>G (p.Ile1762Met) c.5283C>G (p.Ile1761Met) c.5238C>G (p.Ile1746Met) c.4362C>G (p.Ile1454Met) c.4131C>G (p.Ile1377Met) | |
10 | g.94298455C>T | CA470986464 | PLCE1 | c.4320C>T (p.Ile1440=) c.*1787C>T (n.*1787C>T) n.1979C>T n.663C>T c.*528C>T (n.*528C>T) c.4272C>T (p.Ile1424=) n.9452C>T n.2917C>T c.5112C>T (p.Ile1704=) c.5196C>T (p.Ile1732=) c.5244C>T (p.Ile1748=) c.4218C>T (p.Ile1406=) c.3799C>T c.3360C>T (p.Ile1120=) c.*1177C>T (n.*1177C>T) c.4513C>T c.4089C>T (p.Ile1363=) c.5286C>T (p.Ile1762=) c.5283C>T (p.Ile1761=) c.5238C>T (p.Ile1746=) c.4362C>T (p.Ile1454=) c.4131C>T (p.Ile1377=) | |
10 | g.94298456A>C | CA377641810 | PLCE1 | c.4321A>C (p.Ile1441Leu) c.*1788A>C (n.*1788A>C) n.1980A>C n.664A>C c.*529A>C (n.*529A>C) c.4273A>C (p.Ile1425Leu) n.9453A>C n.2918A>C c.5113A>C (p.Ile1705Leu) c.5197A>C (p.Ile1733Leu) c.5245A>C (p.Ile1749Leu) c.4219A>C (p.Ile1407Leu) c.3800A>C c.3361A>C (p.Ile1121Leu) c.*1178A>C (n.*1178A>C) c.4514A>C c.4090A>C (p.Ile1364Leu) c.5287A>C (p.Ile1763Leu) c.5284A>C (p.Ile1762Leu) c.5239A>C (p.Ile1747Leu) c.4363A>C (p.Ile1455Leu) c.4132A>C (p.Ile1378Leu) | |
10 | g.94298456A>G | CA377641811 | PLCE1 | c.4321A>G (p.Ile1441Val) c.*1788A>G (n.*1788A>G) n.1980A>G n.664A>G c.*529A>G (n.*529A>G) c.4273A>G (p.Ile1425Val) n.9453A>G n.2918A>G c.5113A>G (p.Ile1705Val) c.5197A>G (p.Ile1733Val) c.5245A>G (p.Ile1749Val) c.4219A>G (p.Ile1407Val) c.3800A>G c.3361A>G (p.Ile1121Val) c.*1178A>G (n.*1178A>G) c.4514A>G c.4090A>G (p.Ile1364Val) c.5287A>G (p.Ile1763Val) c.5284A>G (p.Ile1762Val) c.5239A>G (p.Ile1747Val) c.4363A>G (p.Ile1455Val) c.4132A>G (p.Ile1378Val) | |
10 | g.94298456A>T | CA377641812 | PLCE1 | c.4321A>T (p.Ile1441Phe) c.*1788A>T (n.*1788A>T) n.1980A>T n.664A>T c.*529A>T (n.*529A>T) c.4273A>T (p.Ile1425Phe) n.9453A>T n.2918A>T c.5113A>T (p.Ile1705Phe) c.5197A>T (p.Ile1733Phe) c.5245A>T (p.Ile1749Phe) c.4219A>T (p.Ile1407Phe) c.3800A>T c.3361A>T (p.Ile1121Phe) c.*1178A>T (n.*1178A>T) c.4514A>T c.4090A>T (p.Ile1364Phe) c.5287A>T (p.Ile1763Phe) c.5284A>T (p.Ile1762Phe) c.5239A>T (p.Ile1747Phe) c.4363A>T (p.Ile1455Phe) c.4132A>T (p.Ile1378Phe) | |
10 | g.94298457T>A | CA377641813 | PLCE1 | c.4322T>A (p.Ile1441Asn) c.*1789T>A (n.*1789T>A) n.1981T>A n.665T>A c.*530T>A (n.*530T>A) c.4274T>A (p.Ile1425Asn) n.9454T>A n.2919T>A c.5114T>A (p.Ile1705Asn) c.5198T>A (p.Ile1733Asn) c.5246T>A (p.Ile1749Asn) c.4220T>A (p.Ile1407Asn) c.3801T>A c.3362T>A (p.Ile1121Asn) c.*1179T>A (n.*1179T>A) c.4515T>A c.4091T>A (p.Ile1364Asn) c.5288T>A (p.Ile1763Asn) c.5285T>A (p.Ile1762Asn) c.5240T>A (p.Ile1747Asn) c.4364T>A (p.Ile1455Asn) c.4133T>A (p.Ile1378Asn) | |
10 | g.94298457T>C | CA377641814 | PLCE1 | c.4322T>C (p.Ile1441Thr) c.*1789T>C (n.*1789T>C) n.1981T>C n.665T>C c.*530T>C (n.*530T>C) c.4274T>C (p.Ile1425Thr) n.9454T>C n.2919T>C c.5114T>C (p.Ile1705Thr) c.5198T>C (p.Ile1733Thr) c.5246T>C (p.Ile1749Thr) c.4220T>C (p.Ile1407Thr) c.3801T>C c.3362T>C (p.Ile1121Thr) c.*1179T>C (n.*1179T>C) c.4515T>C c.4091T>C (p.Ile1364Thr) c.5288T>C (p.Ile1763Thr) c.5285T>C (p.Ile1762Thr) c.5240T>C (p.Ile1747Thr) c.4364T>C (p.Ile1455Thr) c.4133T>C (p.Ile1378Thr) | |
10 | g.94298457T>G | CA377641815 | PLCE1 | c.4322T>G (p.Ile1441Ser) c.*1789T>G (n.*1789T>G) n.1981T>G n.665T>G c.*530T>G (n.*530T>G) c.4274T>G (p.Ile1425Ser) n.9454T>G n.2919T>G c.5114T>G (p.Ile1705Ser) c.5198T>G (p.Ile1733Ser) c.5246T>G (p.Ile1749Ser) c.4220T>G (p.Ile1407Ser) c.3801T>G c.3362T>G (p.Ile1121Ser) c.*1179T>G (n.*1179T>G) c.4515T>G c.4091T>G (p.Ile1364Ser) c.5288T>G (p.Ile1763Ser) c.5285T>G (p.Ile1762Ser) c.5240T>G (p.Ile1747Ser) c.4364T>G (p.Ile1455Ser) c.4133T>G (p.Ile1378Ser) | |
10 | g.94298458T>A | CA470986465 | PLCE1 | c.4323T>A (p.Ile1441=) c.*1790T>A (n.*1790T>A) n.1982T>A n.666T>A c.*531T>A (n.*531T>A) c.4275T>A (p.Ile1425=) n.9455T>A n.2920T>A c.5115T>A (p.Ile1705=) c.5199T>A (p.Ile1733=) c.5247T>A (p.Ile1749=) c.4221T>A (p.Ile1407=) c.3802T>A c.3363T>A (p.Ile1121=) c.*1180T>A (n.*1180T>A) c.4516T>A c.4092T>A (p.Ile1364=) c.5289T>A (p.Ile1763=) c.5286T>A (p.Ile1762=) c.5241T>A (p.Ile1747=) c.4365T>A (p.Ile1455=) c.4134T>A (p.Ile1378=) | |
10 | g.94298458T>C | CA470986466 | PLCE1 | c.4323T>C (p.Ile1441=) c.*1790T>C (n.*1790T>C) n.1982T>C n.666T>C c.*531T>C (n.*531T>C) c.4275T>C (p.Ile1425=) n.9455T>C n.2920T>C c.5115T>C (p.Ile1705=) c.5199T>C (p.Ile1733=) c.5247T>C (p.Ile1749=) c.4221T>C (p.Ile1407=) c.3802T>C c.3363T>C (p.Ile1121=) c.*1180T>C (n.*1180T>C) c.4516T>C c.4092T>C (p.Ile1364=) c.5289T>C (p.Ile1763=) c.5286T>C (p.Ile1762=) c.5241T>C (p.Ile1747=) c.4365T>C (p.Ile1455=) c.4134T>C (p.Ile1378=) | |
10 | g.94298458T>G | CA377641816 | PLCE1 | c.4323T>G (p.Ile1441Met) c.*1790T>G (n.*1790T>G) n.1982T>G n.666T>G c.*531T>G (n.*531T>G) c.4275T>G (p.Ile1425Met) n.9455T>G n.2920T>G c.5115T>G (p.Ile1705Met) c.5199T>G (p.Ile1733Met) c.5247T>G (p.Ile1749Met) c.4221T>G (p.Ile1407Met) c.3802T>G c.3363T>G (p.Ile1121Met) c.*1180T>G (n.*1180T>G) c.4516T>G c.4092T>G (p.Ile1364Met) c.5289T>G (p.Ile1763Met) c.5286T>G (p.Ile1762Met) c.5241T>G (p.Ile1747Met) c.4365T>G (p.Ile1455Met) c.4134T>G (p.Ile1378Met) | |
10 | g.94298459A>C | CA470986467 | PLCE1 | c.4324A>C (p.Arg1442=) c.*1791A>C (n.*1791A>C) n.1983A>C n.667A>C c.*532A>C (n.*532A>C) c.4276A>C (p.Arg1426=) n.9456A>C n.2921A>C c.5116A>C (p.Arg1706=) c.5200A>C (p.Arg1734=) c.5248A>C (p.Arg1750=) c.4222A>C (p.Arg1408=) c.3803A>C c.3364A>C (p.Arg1122=) c.*1181A>C (n.*1181A>C) c.4517A>C c.4093A>C (p.Arg1365=) c.5290A>C (p.Arg1764=) c.5287A>C (p.Arg1763=) c.5242A>C (p.Arg1748=) c.4366A>C (p.Arg1456=) c.4135A>C (p.Arg1379=) | |
10 | g.94298459A>G | CA377641817 | PLCE1 | c.4324A>G (p.Arg1442Gly) c.*1791A>G (n.*1791A>G) n.1983A>G n.667A>G c.*532A>G (n.*532A>G) c.4276A>G (p.Arg1426Gly) n.9456A>G n.2921A>G c.5116A>G (p.Arg1706Gly) c.5200A>G (p.Arg1734Gly) c.5248A>G (p.Arg1750Gly) c.4222A>G (p.Arg1408Gly) c.3803A>G c.3364A>G (p.Arg1122Gly) c.*1181A>G (n.*1181A>G) c.4517A>G c.4093A>G (p.Arg1365Gly) c.5290A>G (p.Arg1764Gly) c.5287A>G (p.Arg1763Gly) c.5242A>G (p.Arg1748Gly) c.4366A>G (p.Arg1456Gly) c.4135A>G (p.Arg1379Gly) | |
10 | g.94298459A>T | CA377641818 | PLCE1 | c.4324A>T (p.Arg1442Ter) c.*1791A>T (n.*1791A>T) n.1983A>T n.667A>T c.*532A>T (n.*532A>T) c.4276A>T (p.Arg1426Ter) n.9456A>T n.2921A>T c.5116A>T (p.Arg1706Ter) c.5200A>T (p.Arg1734Ter) c.5248A>T (p.Arg1750Ter) c.4222A>T (p.Arg1408Ter) c.3803A>T c.3364A>T (p.Arg1122Ter) c.*1181A>T (n.*1181A>T) c.4517A>T c.4093A>T (p.Arg1365Ter) c.5290A>T (p.Arg1764Ter) c.5287A>T (p.Arg1763Ter) c.5242A>T (p.Arg1748Ter) c.4366A>T (p.Arg1456Ter) c.4135A>T (p.Arg1379Ter) | |
10 | g.94298460G>A | CA377641819 | PLCE1 | c.4325G>A (p.Arg1442Lys) c.*1792G>A (n.*1792G>A) n.1984G>A n.668G>A c.*533G>A (n.*533G>A) c.4277G>A (p.Arg1426Lys) n.9457G>A n.2922G>A c.5117G>A (p.Arg1706Lys) c.5201G>A (p.Arg1734Lys) c.5249G>A (p.Arg1750Lys) c.4223G>A (p.Arg1408Lys) c.3804G>A c.3365G>A (p.Arg1122Lys) c.*1182G>A (n.*1182G>A) c.4518G>A c.4094G>A (p.Arg1365Lys) c.5291G>A (p.Arg1764Lys) c.5288G>A (p.Arg1763Lys) c.5243G>A (p.Arg1748Lys) c.4367G>A (p.Arg1456Lys) c.4136G>A (p.Arg1379Lys) | |
10 | g.94298460G>C | CA377641820 | PLCE1 | c.4325G>C (p.Arg1442Thr) c.*1792G>C (n.*1792G>C) n.1984G>C n.668G>C c.*533G>C (n.*533G>C) c.4277G>C (p.Arg1426Thr) n.9457G>C n.2922G>C c.5117G>C (p.Arg1706Thr) c.5201G>C (p.Arg1734Thr) c.5249G>C (p.Arg1750Thr) c.4223G>C (p.Arg1408Thr) c.3804G>C c.3365G>C (p.Arg1122Thr) c.*1182G>C (n.*1182G>C) c.4518G>C c.4094G>C (p.Arg1365Thr) c.5291G>C (p.Arg1764Thr) c.5288G>C (p.Arg1763Thr) c.5243G>C (p.Arg1748Thr) c.4367G>C (p.Arg1456Thr) c.4136G>C (p.Arg1379Thr) | |
10 | g.94298460G>T | CA377641821 | PLCE1 | c.4325G>T (p.Arg1442Ile) c.*1792G>T (n.*1792G>T) n.1984G>T n.668G>T c.*533G>T (n.*533G>T) c.4277G>T (p.Arg1426Ile) n.9457G>T n.2922G>T c.5117G>T (p.Arg1706Ile) c.5201G>T (p.Arg1734Ile) c.5249G>T (p.Arg1750Ile) c.4223G>T (p.Arg1408Ile) c.3804G>T c.3365G>T (p.Arg1122Ile) c.*1182G>T (n.*1182G>T) c.4518G>T c.4094G>T (p.Arg1365Ile) c.5291G>T (p.Arg1764Ile) c.5288G>T (p.Arg1763Ile) c.5243G>T (p.Arg1748Ile) c.4367G>T (p.Arg1456Ile) c.4136G>T (p.Arg1379Ile) | |
10 | g.94298461A>C | CA377641822 | PLCE1 | c.4326A>C (p.Arg1442Ser) c.*1793A>C (n.*1793A>C) n.1985A>C n.669A>C c.*534A>C (n.*534A>C) c.4278A>C (p.Arg1426Ser) n.9458A>C n.2923A>C c.5118A>C (p.Arg1706Ser) c.5202A>C (p.Arg1734Ser) c.5250A>C (p.Arg1750Ser) c.4224A>C (p.Arg1408Ser) c.3805A>C c.3366A>C (p.Arg1122Ser) c.*1183A>C (n.*1183A>C) c.4519A>C c.4095A>C (p.Arg1365Ser) c.5292A>C (p.Arg1764Ser) c.5289A>C (p.Arg1763Ser) c.5244A>C (p.Arg1748Ser) c.4368A>C (p.Arg1456Ser) c.4137A>C (p.Arg1379Ser) | |
10 | g.94298461A>G | CA470986468 | PLCE1 | c.4326A>G (p.Arg1442=) c.*1793A>G (n.*1793A>G) n.1985A>G n.669A>G c.*534A>G (n.*534A>G) c.4278A>G (p.Arg1426=) n.9458A>G n.2923A>G c.5118A>G (p.Arg1706=) c.5202A>G (p.Arg1734=) c.5250A>G (p.Arg1750=) c.4224A>G (p.Arg1408=) c.3805A>G c.3366A>G (p.Arg1122=) c.*1183A>G (n.*1183A>G) c.4519A>G c.4095A>G (p.Arg1365=) c.5292A>G (p.Arg1764=) c.5289A>G (p.Arg1763=) c.5244A>G (p.Arg1748=) c.4368A>G (p.Arg1456=) c.4137A>G (p.Arg1379=) | |
10 | g.94298461A>T | CA377641823 | PLCE1 | c.4326A>T (p.Arg1442Ser) c.*1793A>T (n.*1793A>T) n.1985A>T n.669A>T c.*534A>T (n.*534A>T) c.4278A>T (p.Arg1426Ser) n.9458A>T n.2923A>T c.5118A>T (p.Arg1706Ser) c.5202A>T (p.Arg1734Ser) c.5250A>T (p.Arg1750Ser) c.4224A>T (p.Arg1408Ser) c.3805A>T c.3366A>T (p.Arg1122Ser) c.*1183A>T (n.*1183A>T) c.4519A>T c.4095A>T (p.Arg1365Ser) c.5292A>T (p.Arg1764Ser) c.5289A>T (p.Arg1763Ser) c.5244A>T (p.Arg1748Ser) c.4368A>T (p.Arg1456Ser) c.4137A>T (p.Arg1379Ser) | |
10 | g.94298462A>C | CA377641826 | PLCE1 | c.4327A>C (p.Thr1443Pro) c.*1794A>C (n.*1794A>C) n.1986A>C n.670A>C c.*535A>C (n.*535A>C) c.4279A>C (p.Thr1427Pro) n.9459A>C n.2924A>C c.5119A>C (p.Thr1707Pro) c.5203A>C (p.Thr1735Pro) c.5251A>C (p.Thr1751Pro) c.4225A>C (p.Thr1409Pro) c.3806A>C c.3367A>C (p.Thr1123Pro) c.*1184A>C (n.*1184A>C) c.4520A>C c.4096A>C (p.Thr1366Pro) c.5293A>C (p.Thr1765Pro) c.5290A>C (p.Thr1764Pro) c.5245A>C (p.Thr1749Pro) c.4369A>C (p.Thr1457Pro) c.4138A>C (p.Thr1380Pro) | |
10 | g.94298462A>G | CA377641825 | PLCE1 | c.4327A>G (p.Thr1443Ala) c.*1794A>G (n.*1794A>G) n.1986A>G n.670A>G c.*535A>G (n.*535A>G) c.4279A>G (p.Thr1427Ala) n.9459A>G n.2924A>G c.5119A>G (p.Thr1707Ala) c.5203A>G (p.Thr1735Ala) c.5251A>G (p.Thr1751Ala) c.4225A>G (p.Thr1409Ala) c.3806A>G c.3367A>G (p.Thr1123Ala) c.*1184A>G (n.*1184A>G) c.4520A>G c.4096A>G (p.Thr1366Ala) c.5293A>G (p.Thr1765Ala) c.5290A>G (p.Thr1764Ala) c.5245A>G (p.Thr1749Ala) c.4369A>G (p.Thr1457Ala) c.4138A>G (p.Thr1380Ala) | |
10 | g.94298462A>T | CA377641824 | PLCE1 | c.4327A>T (p.Thr1443Ser) c.*1794A>T (n.*1794A>T) n.1986A>T n.670A>T c.*535A>T (n.*535A>T) c.4279A>T (p.Thr1427Ser) n.9459A>T n.2924A>T c.5119A>T (p.Thr1707Ser) c.5203A>T (p.Thr1735Ser) c.5251A>T (p.Thr1751Ser) c.4225A>T (p.Thr1409Ser) c.3806A>T c.3367A>T (p.Thr1123Ser) c.*1184A>T (n.*1184A>T) c.4520A>T c.4096A>T (p.Thr1366Ser) c.5293A>T (p.Thr1765Ser) c.5290A>T (p.Thr1764Ser) c.5245A>T (p.Thr1749Ser) c.4369A>T (p.Thr1457Ser) c.4138A>T (p.Thr1380Ser) | |
10 | g.94298463C>A | CA377641827 | PLCE1 | c.4328C>A (p.Thr1443Asn) c.*1795C>A (n.*1795C>A) n.1987C>A n.671C>A c.*536C>A (n.*536C>A) c.4280C>A (p.Thr1427Asn) n.9460C>A n.2925C>A c.5120C>A (p.Thr1707Asn) c.5204C>A (p.Thr1735Asn) c.5252C>A (p.Thr1751Asn) c.4226C>A (p.Thr1409Asn) c.3807C>A c.3368C>A (p.Thr1123Asn) c.*1185C>A (n.*1185C>A) c.4521C>A c.4097C>A (p.Thr1366Asn) c.5294C>A (p.Thr1765Asn) c.5291C>A (p.Thr1764Asn) c.5246C>A (p.Thr1749Asn) c.4370C>A (p.Thr1457Asn) c.4139C>A (p.Thr1380Asn) | |
10 | g.94298463C= | CA1928998403 | PLCE1 | c.4328C= (p.Thr1443=) c.*1795C= (n.*1795C=) n.1987C= n.671C= c.*536C= (n.*536C=) c.4280C= (p.Thr1427=) n.9460C= n.2925C= c.5120C= (p.Thr1707=) c.5204C= (p.Thr1735=) c.5252C= (p.Thr1751=) c.4226C= (p.Thr1409=) c.3807C= c.3368C= (p.Thr1123=) c.*1185C= (n.*1185C=) c.4521C= c.4097C= (p.Thr1366=) c.5294C= (p.Thr1765=) c.5291C= (p.Thr1764=) c.5246C= (p.Thr1749=) c.4370C= (p.Thr1457=) c.4139C= (p.Thr1380=) | |
10 | g.94298463C>G | CA377641829 | PLCE1 | c.4328C>G (p.Thr1443Ser) c.*1795C>G (n.*1795C>G) n.1987C>G n.671C>G c.*536C>G (n.*536C>G) c.4280C>G (p.Thr1427Ser) n.9460C>G n.2925C>G c.5120C>G (p.Thr1707Ser) c.5204C>G (p.Thr1735Ser) c.5252C>G (p.Thr1751Ser) c.4226C>G (p.Thr1409Ser) c.3807C>G c.3368C>G (p.Thr1123Ser) c.*1185C>G (n.*1185C>G) c.4521C>G c.4097C>G (p.Thr1366Ser) c.5294C>G (p.Thr1765Ser) c.5291C>G (p.Thr1764Ser) c.5246C>G (p.Thr1749Ser) c.4370C>G (p.Thr1457Ser) c.4139C>G (p.Thr1380Ser) | |
10 | g.94298463C>T | CA377641828 | PLCE1 | c.4328C>T (p.Thr1443Ile) c.*1795C>T (n.*1795C>T) n.1987C>T n.671C>T c.*536C>T (n.*536C>T) c.4280C>T (p.Thr1427Ile) n.9460C>T n.2925C>T c.5120C>T (p.Thr1707Ile) c.5204C>T (p.Thr1735Ile) c.5252C>T (p.Thr1751Ile) c.4226C>T (p.Thr1409Ile) c.3807C>T c.3368C>T (p.Thr1123Ile) c.*1185C>T (n.*1185C>T) c.4521C>T c.4097C>T (p.Thr1366Ile) c.5294C>T (p.Thr1765Ile) c.5291C>T (p.Thr1764Ile) c.5246C>T (p.Thr1749Ile) c.4370C>T (p.Thr1457Ile) c.4139C>T (p.Thr1380Ile) | dbSNP |
10 | g.94298464T>A | CA470986472 | PLCE1 | c.4329T>A (p.Thr1443=) c.*1796T>A (n.*1796T>A) n.1988T>A n.672T>A c.*537T>A (n.*537T>A) c.4281T>A (p.Thr1427=) n.9461T>A n.2926T>A c.5121T>A (p.Thr1707=) c.5205T>A (p.Thr1735=) c.5253T>A (p.Thr1751=) c.4227T>A (p.Thr1409=) c.3808T>A c.3369T>A (p.Thr1123=) c.*1186T>A (n.*1186T>A) c.4522T>A c.4098T>A (p.Thr1366=) c.5295T>A (p.Thr1765=) c.5292T>A (p.Thr1764=) c.5247T>A (p.Thr1749=) c.4371T>A (p.Thr1457=) c.4140T>A (p.Thr1380=) | |
10 | g.94298464T>C | CA470986473 | PLCE1 | c.4329T>C (p.Thr1443=) c.*1796T>C (n.*1796T>C) n.1988T>C n.672T>C c.*537T>C (n.*537T>C) c.4281T>C (p.Thr1427=) n.9461T>C n.2926T>C c.5121T>C (p.Thr1707=) c.5205T>C (p.Thr1735=) c.5253T>C (p.Thr1751=) c.4227T>C (p.Thr1409=) c.3808T>C c.3369T>C (p.Thr1123=) c.*1186T>C (n.*1186T>C) c.4522T>C c.4098T>C (p.Thr1366=) c.5295T>C (p.Thr1765=) c.5292T>C (p.Thr1764=) c.5247T>C (p.Thr1749=) c.4371T>C (p.Thr1457=) c.4140T>C (p.Thr1380=) | dbSNP |
10 | g.94298464T>G | CA470986474 | PLCE1 | c.4329T>G (p.Thr1443=) c.*1796T>G (n.*1796T>G) n.1988T>G n.672T>G c.*537T>G (n.*537T>G) c.4281T>G (p.Thr1427=) n.9461T>G n.2926T>G c.5121T>G (p.Thr1707=) c.5205T>G (p.Thr1735=) c.5253T>G (p.Thr1751=) c.4227T>G (p.Thr1409=) c.3808T>G c.3369T>G (p.Thr1123=) c.*1186T>G (n.*1186T>G) c.4522T>G c.4098T>G (p.Thr1366=) c.5295T>G (p.Thr1765=) c.5292T>G (p.Thr1764=) c.5247T>G (p.Thr1749=) c.4371T>G (p.Thr1457=) c.4140T>G (p.Thr1380=) | |
10 | g.94298464T= | CA1928998404 | PLCE1 | c.4329T= (p.Thr1443=) c.*1796T= (n.*1796T=) n.1988T= n.672T= c.*537T= (n.*537T=) c.4281T= (p.Thr1427=) n.9461T= n.2926T= c.5121T= (p.Thr1707=) c.5205T= (p.Thr1735=) c.5253T= (p.Thr1751=) c.4227T= (p.Thr1409=) c.3808T= c.3369T= (p.Thr1123=) c.*1186T= (n.*1186T=) c.4522T= c.4098T= (p.Thr1366=) c.5295T= (p.Thr1765=) c.5292T= (p.Thr1764=) c.5247T= (p.Thr1749=) c.4371T= (p.Thr1457=) c.4140T= (p.Thr1380=) | |
10 | g.94298465C>A | CA377641830 | PLCE1 | c.4330C>A (p.Pro1444Thr) c.*1797C>A (n.*1797C>A) n.1989C>A n.673C>A c.*538C>A (n.*538C>A) c.4282C>A (p.Pro1428Thr) n.9462C>A n.2927C>A c.5122C>A (p.Pro1708Thr) c.5206C>A (p.Pro1736Thr) c.5254C>A (p.Pro1752Thr) c.4228C>A (p.Pro1410Thr) c.3809C>A c.3370C>A (p.Pro1124Thr) c.*1187C>A (n.*1187C>A) c.4523C>A c.4099C>A (p.Pro1367Thr) c.5296C>A (p.Pro1766Thr) c.5293C>A (p.Pro1765Thr) c.5248C>A (p.Pro1750Thr) c.4372C>A (p.Pro1458Thr) c.4141C>A (p.Pro1381Thr) | |
10 | g.94298465C>G | CA377641831 | PLCE1 | c.4330C>G (p.Pro1444Ala) c.*1797C>G (n.*1797C>G) n.1989C>G n.673C>G c.*538C>G (n.*538C>G) c.4282C>G (p.Pro1428Ala) n.9462C>G n.2927C>G c.5122C>G (p.Pro1708Ala) c.5206C>G (p.Pro1736Ala) c.5254C>G (p.Pro1752Ala) c.4228C>G (p.Pro1410Ala) c.3809C>G c.3370C>G (p.Pro1124Ala) c.*1187C>G (n.*1187C>G) c.4523C>G c.4099C>G (p.Pro1367Ala) c.5296C>G (p.Pro1766Ala) c.5293C>G (p.Pro1765Ala) c.5248C>G (p.Pro1750Ala) c.4372C>G (p.Pro1458Ala) c.4141C>G (p.Pro1381Ala) | |
10 | g.94298465C>T | CA377641832 | PLCE1 | c.4330C>T (p.Pro1444Ser) c.*1797C>T (n.*1797C>T) n.1989C>T n.673C>T c.*538C>T (n.*538C>T) c.4282C>T (p.Pro1428Ser) n.9462C>T n.2927C>T c.5122C>T (p.Pro1708Ser) c.5206C>T (p.Pro1736Ser) c.5254C>T (p.Pro1752Ser) c.4228C>T (p.Pro1410Ser) c.3809C>T c.3370C>T (p.Pro1124Ser) c.*1187C>T (n.*1187C>T) c.4523C>T c.4099C>T (p.Pro1367Ser) c.5296C>T (p.Pro1766Ser) c.5293C>T (p.Pro1765Ser) c.5248C>T (p.Pro1750Ser) c.4372C>T (p.Pro1458Ser) c.4141C>T (p.Pro1381Ser) | |
10 | g.94298466C>A | CA377641833 | PLCE1 | c.4331C>A (p.Pro1444His) c.*1798C>A (n.*1798C>A) n.1990C>A n.674C>A c.*539C>A (n.*539C>A) c.4283C>A (p.Pro1428His) n.9463C>A n.2928C>A c.5123C>A (p.Pro1708His) c.5207C>A (p.Pro1736His) c.5255C>A (p.Pro1752His) c.4229C>A (p.Pro1410His) c.3810C>A c.3371C>A (p.Pro1124His) c.*1188C>A (n.*1188C>A) c.4524C>A c.4100C>A (p.Pro1367His) c.5297C>A (p.Pro1766His) c.5294C>A (p.Pro1765His) c.5249C>A (p.Pro1750His) c.4373C>A (p.Pro1458His) c.4142C>A (p.Pro1381His) | |
10 | g.94298466C>G | CA377641834 | PLCE1 | c.4331C>G (p.Pro1444Arg) c.*1798C>G (n.*1798C>G) n.1990C>G n.674C>G c.*539C>G (n.*539C>G) c.4283C>G (p.Pro1428Arg) n.9463C>G n.2928C>G c.5123C>G (p.Pro1708Arg) c.5207C>G (p.Pro1736Arg) c.5255C>G (p.Pro1752Arg) c.4229C>G (p.Pro1410Arg) c.3810C>G c.3371C>G (p.Pro1124Arg) c.*1188C>G (n.*1188C>G) c.4524C>G c.4100C>G (p.Pro1367Arg) c.5297C>G (p.Pro1766Arg) c.5294C>G (p.Pro1765Arg) c.5249C>G (p.Pro1750Arg) c.4373C>G (p.Pro1458Arg) c.4142C>G (p.Pro1381Arg) | |
10 | g.94298466C>T | CA377641835 | PLCE1 | c.4331C>T (p.Pro1444Leu) c.*1798C>T (n.*1798C>T) n.1990C>T n.674C>T c.*539C>T (n.*539C>T) c.4283C>T (p.Pro1428Leu) n.9463C>T n.2928C>T c.5123C>T (p.Pro1708Leu) c.5207C>T (p.Pro1736Leu) c.5255C>T (p.Pro1752Leu) c.4229C>T (p.Pro1410Leu) c.3810C>T c.3371C>T (p.Pro1124Leu) c.*1188C>T (n.*1188C>T) c.4524C>T c.4100C>T (p.Pro1367Leu) c.5297C>T (p.Pro1766Leu) c.5294C>T (p.Pro1765Leu) c.5249C>T (p.Pro1750Leu) c.4373C>T (p.Pro1458Leu) c.4142C>T (p.Pro1381Leu) | |
10 | g.94298467C>A | CA470986475 | PLCE1 | c.4332C>A (p.Pro1444=) c.*1799C>A (n.*1799C>A) n.1991C>A n.675C>A c.*540C>A (n.*540C>A) c.4284C>A (p.Pro1428=) n.9464C>A n.2929C>A c.5124C>A (p.Pro1708=) c.5208C>A (p.Pro1736=) c.5256C>A (p.Pro1752=) c.4230C>A (p.Pro1410=) c.3811C>A c.3372C>A (p.Pro1124=) c.*1189C>A (n.*1189C>A) c.4525C>A c.4101C>A (p.Pro1367=) c.5298C>A (p.Pro1766=) c.5295C>A (p.Pro1765=) c.5250C>A (p.Pro1750=) c.4374C>A (p.Pro1458=) c.4143C>A (p.Pro1381=) | |
10 | g.94298467C>G | CA470986476 | PLCE1 | c.4332C>G (p.Pro1444=) c.*1799C>G (n.*1799C>G) n.1991C>G n.675C>G c.*540C>G (n.*540C>G) c.4284C>G (p.Pro1428=) n.9464C>G n.2929C>G c.5124C>G (p.Pro1708=) c.5208C>G (p.Pro1736=) c.5256C>G (p.Pro1752=) c.4230C>G (p.Pro1410=) c.3811C>G c.3372C>G (p.Pro1124=) c.*1189C>G (n.*1189C>G) c.4525C>G c.4101C>G (p.Pro1367=) c.5298C>G (p.Pro1766=) c.5295C>G (p.Pro1765=) c.5250C>G (p.Pro1750=) c.4374C>G (p.Pro1458=) c.4143C>G (p.Pro1381=) | |
10 | g.94298467C>T | CA470986477 | PLCE1 | c.4332C>T (p.Pro1444=) c.*1799C>T (n.*1799C>T) n.1991C>T n.675C>T c.*540C>T (n.*540C>T) c.4284C>T (p.Pro1428=) n.9464C>T n.2929C>T c.5124C>T (p.Pro1708=) c.5208C>T (p.Pro1736=) c.5256C>T (p.Pro1752=) c.4230C>T (p.Pro1410=) c.3811C>T c.3372C>T (p.Pro1124=) c.*1189C>T (n.*1189C>T) c.4525C>T c.4101C>T (p.Pro1367=) c.5298C>T (p.Pro1766=) c.5295C>T (p.Pro1765=) c.5250C>T (p.Pro1750=) c.4374C>T (p.Pro1458=) c.4143C>T (p.Pro1381=) | |
10 | g.94298468A>C | CA377641838 | PLCE1 | c.4333A>C (p.Lys1445Gln) c.*1800A>C (n.*1800A>C) n.1992A>C n.676A>C c.*541A>C (n.*541A>C) c.4285A>C (p.Lys1429Gln) n.9465A>C n.2930A>C c.5125A>C (p.Lys1709Gln) c.5209A>C (p.Lys1737Gln) c.5257A>C (p.Lys1753Gln) c.4231A>C (p.Lys1411Gln) c.3812A>C c.3373A>C (p.Lys1125Gln) c.*1190A>C (n.*1190A>C) c.4526A>C c.4102A>C (p.Lys1368Gln) c.5299A>C (p.Lys1767Gln) c.5296A>C (p.Lys1766Gln) c.5251A>C (p.Lys1751Gln) c.4375A>C (p.Lys1459Gln) c.4144A>C (p.Lys1382Gln) | |
10 | g.94298468A>G | CA377641836 | PLCE1 | c.4333A>G (p.Lys1445Glu) c.*1800A>G (n.*1800A>G) n.1992A>G n.676A>G c.*541A>G (n.*541A>G) c.4285A>G (p.Lys1429Glu) n.9465A>G n.2930A>G c.5125A>G (p.Lys1709Glu) c.5209A>G (p.Lys1737Glu) c.5257A>G (p.Lys1753Glu) c.4231A>G (p.Lys1411Glu) c.3812A>G c.3373A>G (p.Lys1125Glu) c.*1190A>G (n.*1190A>G) c.4526A>G c.4102A>G (p.Lys1368Glu) c.5299A>G (p.Lys1767Glu) c.5296A>G (p.Lys1766Glu) c.5251A>G (p.Lys1751Glu) c.4375A>G (p.Lys1459Glu) c.4144A>G (p.Lys1382Glu) | |
10 | g.94298468A>T | CA377641837 | PLCE1 | c.4333A>T (p.Lys1445Ter) c.*1800A>T (n.*1800A>T) n.1992A>T n.676A>T c.*541A>T (n.*541A>T) c.4285A>T (p.Lys1429Ter) n.9465A>T n.2930A>T c.5125A>T (p.Lys1709Ter) c.5209A>T (p.Lys1737Ter) c.5257A>T (p.Lys1753Ter) c.4231A>T (p.Lys1411Ter) c.3812A>T c.3373A>T (p.Lys1125Ter) c.*1190A>T (n.*1190A>T) c.4526A>T c.4102A>T (p.Lys1368Ter) c.5299A>T (p.Lys1767Ter) c.5296A>T (p.Lys1766Ter) c.5251A>T (p.Lys1751Ter) c.4375A>T (p.Lys1459Ter) c.4144A>T (p.Lys1382Ter) | |
10 | g.94298469A= | CA1928998405 | PLCE1 | c.4334A= (p.Lys1445=) c.*1801A= (n.*1801A=) n.1993A= n.677A= c.*542A= (n.*542A=) c.4286A= (p.Lys1429=) n.9466A= n.2931A= c.5126A= (p.Lys1709=) c.5210A= (p.Lys1737=) c.5258A= (p.Lys1753=) c.4232A= (p.Lys1411=) c.3813A= c.3374A= (p.Lys1125=) c.*1191A= (n.*1191A=) c.4527A= c.4103A= (p.Lys1368=) c.5300A= (p.Lys1767=) c.5297A= (p.Lys1766=) c.5252A= (p.Lys1751=) c.4376A= (p.Lys1459=) c.4145A= (p.Lys1382=) | |
10 | g.94298469A>C | CA377641839 | PLCE1 | c.4334A>C (p.Lys1445Thr) c.*1801A>C (n.*1801A>C) n.1993A>C n.677A>C c.*542A>C (n.*542A>C) c.4286A>C (p.Lys1429Thr) n.9466A>C n.2931A>C c.5126A>C (p.Lys1709Thr) c.5210A>C (p.Lys1737Thr) c.5258A>C (p.Lys1753Thr) c.4232A>C (p.Lys1411Thr) c.3813A>C c.3374A>C (p.Lys1125Thr) c.*1191A>C (n.*1191A>C) c.4527A>C c.4103A>C (p.Lys1368Thr) c.5300A>C (p.Lys1767Thr) c.5297A>C (p.Lys1766Thr) c.5252A>C (p.Lys1751Thr) c.4376A>C (p.Lys1459Thr) c.4145A>C (p.Lys1382Thr) | |
10 | g.94298469A>G | CA377641840 | PLCE1 | c.4334A>G (p.Lys1445Arg) c.*1801A>G (n.*1801A>G) n.1993A>G n.677A>G c.*542A>G (n.*542A>G) c.4286A>G (p.Lys1429Arg) n.9466A>G n.2931A>G c.5126A>G (p.Lys1709Arg) c.5210A>G (p.Lys1737Arg) c.5258A>G (p.Lys1753Arg) c.4232A>G (p.Lys1411Arg) c.3813A>G c.3374A>G (p.Lys1125Arg) c.*1191A>G (n.*1191A>G) c.4527A>G c.4103A>G (p.Lys1368Arg) c.5300A>G (p.Lys1767Arg) c.5297A>G (p.Lys1766Arg) c.5252A>G (p.Lys1751Arg) c.4376A>G (p.Lys1459Arg) c.4145A>G (p.Lys1382Arg) | dbSNP COSMIC COSMIC |
10 | g.94298469A>T | CA377641841 | PLCE1 | c.4334A>T (p.Lys1445Ile) c.*1801A>T (n.*1801A>T) n.1993A>T n.677A>T c.*542A>T (n.*542A>T) c.4286A>T (p.Lys1429Ile) n.9466A>T n.2931A>T c.5126A>T (p.Lys1709Ile) c.5210A>T (p.Lys1737Ile) c.5258A>T (p.Lys1753Ile) c.4232A>T (p.Lys1411Ile) c.3813A>T c.3374A>T (p.Lys1125Ile) c.*1191A>T (n.*1191A>T) c.4527A>T c.4103A>T (p.Lys1368Ile) c.5300A>T (p.Lys1767Ile) c.5297A>T (p.Lys1766Ile) c.5252A>T (p.Lys1751Ile) c.4376A>T (p.Lys1459Ile) c.4145A>T (p.Lys1382Ile) | |
10 | g.94298470A>C | CA377641842 | PLCE1 | c.4335A>C (p.Lys1445Asn) c.*1802A>C (n.*1802A>C) n.1994A>C n.678A>C c.*543A>C (n.*543A>C) c.4287A>C (p.Lys1429Asn) n.9467A>C n.2932A>C c.5127A>C (p.Lys1709Asn) c.5211A>C (p.Lys1737Asn) c.5259A>C (p.Lys1753Asn) c.4233A>C (p.Lys1411Asn) c.3814A>C c.3375A>C (p.Lys1125Asn) c.*1192A>C (n.*1192A>C) c.4528A>C c.4104A>C (p.Lys1368Asn) c.5301A>C (p.Lys1767Asn) c.5298A>C (p.Lys1766Asn) c.5253A>C (p.Lys1751Asn) c.4377A>C (p.Lys1459Asn) c.4146A>C (p.Lys1382Asn) | |
10 | g.94298470A>G | CA470986479 | PLCE1 | c.4335A>G (p.Lys1445=) c.*1802A>G (n.*1802A>G) n.1994A>G n.678A>G c.*543A>G (n.*543A>G) c.4287A>G (p.Lys1429=) n.9467A>G n.2932A>G c.5127A>G (p.Lys1709=) c.5211A>G (p.Lys1737=) c.5259A>G (p.Lys1753=) c.4233A>G (p.Lys1411=) c.3814A>G c.3375A>G (p.Lys1125=) c.*1192A>G (n.*1192A>G) c.4528A>G c.4104A>G (p.Lys1368=) c.5301A>G (p.Lys1767=) c.5298A>G (p.Lys1766=) c.5253A>G (p.Lys1751=) c.4377A>G (p.Lys1459=) c.4146A>G (p.Lys1382=) | |
10 | g.94298470A>T | CA377641843 | PLCE1 | c.4335A>T (p.Lys1445Asn) c.*1802A>T (n.*1802A>T) n.1994A>T n.678A>T c.*543A>T (n.*543A>T) c.4287A>T (p.Lys1429Asn) n.9467A>T n.2932A>T c.5127A>T (p.Lys1709Asn) c.5211A>T (p.Lys1737Asn) c.5259A>T (p.Lys1753Asn) c.4233A>T (p.Lys1411Asn) c.3814A>T c.3375A>T (p.Lys1125Asn) c.*1192A>T (n.*1192A>T) c.4528A>T c.4104A>T (p.Lys1368Asn) c.5301A>T (p.Lys1767Asn) c.5298A>T (p.Lys1766Asn) c.5253A>T (p.Lys1751Asn) c.4377A>T (p.Lys1459Asn) c.4146A>T (p.Lys1382Asn) | |
10 | g.94298471T>A | CA377641846 | PLCE1 | c.4336T>A (p.Cys1446Ser) c.*1803T>A (n.*1803T>A) n.1995T>A n.679T>A c.*544T>A (n.*544T>A) c.4288T>A (p.Cys1430Ser) n.9468T>A n.2933T>A c.5128T>A (p.Cys1710Ser) c.5212T>A (p.Cys1738Ser) c.5260T>A (p.Cys1754Ser) c.4234T>A (p.Cys1412Ser) c.3815T>A c.3376T>A (p.Cys1126Ser) c.*1193T>A (n.*1193T>A) c.4529T>A c.4105T>A (p.Cys1369Ser) c.5302T>A (p.Cys1768Ser) c.5299T>A (p.Cys1767Ser) c.5254T>A (p.Cys1752Ser) c.4378T>A (p.Cys1460Ser) c.4147T>A (p.Cys1383Ser) | |
10 | g.94298471T>C | CA377641844 | PLCE1 | c.4336T>C (p.Cys1446Arg) c.*1803T>C (n.*1803T>C) n.1995T>C n.679T>C c.*544T>C (n.*544T>C) c.4288T>C (p.Cys1430Arg) n.9468T>C n.2933T>C c.5128T>C (p.Cys1710Arg) c.5212T>C (p.Cys1738Arg) c.5260T>C (p.Cys1754Arg) c.4234T>C (p.Cys1412Arg) c.3815T>C c.3376T>C (p.Cys1126Arg) c.*1193T>C (n.*1193T>C) c.4529T>C c.4105T>C (p.Cys1369Arg) c.5302T>C (p.Cys1768Arg) c.5299T>C (p.Cys1767Arg) c.5254T>C (p.Cys1752Arg) c.4378T>C (p.Cys1460Arg) c.4147T>C (p.Cys1383Arg) | |
10 | g.94298471T>G | CA377641845 | PLCE1 | c.4336T>G (p.Cys1446Gly) c.*1803T>G (n.*1803T>G) n.1995T>G n.679T>G c.*544T>G (n.*544T>G) c.4288T>G (p.Cys1430Gly) n.9468T>G n.2933T>G c.5128T>G (p.Cys1710Gly) c.5212T>G (p.Cys1738Gly) c.5260T>G (p.Cys1754Gly) c.4234T>G (p.Cys1412Gly) c.3815T>G c.3376T>G (p.Cys1126Gly) c.*1193T>G (n.*1193T>G) c.4529T>G c.4105T>G (p.Cys1369Gly) c.5302T>G (p.Cys1768Gly) c.5299T>G (p.Cys1767Gly) c.5254T>G (p.Cys1752Gly) c.4378T>G (p.Cys1460Gly) c.4147T>G (p.Cys1383Gly) | |
10 | g.94298472G>A | CA377641847 | PLCE1 | c.4337G>A (p.Cys1446Tyr) c.*1804G>A (n.*1804G>A) n.1996G>A n.680G>A c.*545G>A (n.*545G>A) c.4289G>A (p.Cys1430Tyr) n.9469G>A n.2934G>A c.5129G>A (p.Cys1710Tyr) c.5213G>A (p.Cys1738Tyr) c.5261G>A (p.Cys1754Tyr) c.4235G>A (p.Cys1412Tyr) c.3816G>A c.3377G>A (p.Cys1126Tyr) c.*1194G>A (n.*1194G>A) c.4530G>A c.4106G>A (p.Cys1369Tyr) c.5303G>A (p.Cys1768Tyr) c.5300G>A (p.Cys1767Tyr) c.5255G>A (p.Cys1752Tyr) c.4379G>A (p.Cys1460Tyr) c.4148G>A (p.Cys1383Tyr) | dbSNP |
10 | g.94298472G>C | CA377641848 | PLCE1 | c.4337G>C (p.Cys1446Ser) c.*1804G>C (n.*1804G>C) n.1996G>C n.680G>C c.*545G>C (n.*545G>C) c.4289G>C (p.Cys1430Ser) n.9469G>C n.2934G>C c.5129G>C (p.Cys1710Ser) c.5213G>C (p.Cys1738Ser) c.5261G>C (p.Cys1754Ser) c.4235G>C (p.Cys1412Ser) c.3816G>C c.3377G>C (p.Cys1126Ser) c.*1194G>C (n.*1194G>C) c.4530G>C c.4106G>C (p.Cys1369Ser) c.5303G>C (p.Cys1768Ser) c.5300G>C (p.Cys1767Ser) c.5255G>C (p.Cys1752Ser) c.4379G>C (p.Cys1460Ser) c.4148G>C (p.Cys1383Ser) | gnomAD v4 |
10 | g.94298472G= | CA1928998406 | PLCE1 | c.4337G= (p.Cys1446=) c.*1804G= (n.*1804G=) n.1996G= n.680G= c.*545G= (n.*545G=) c.4289G= (p.Cys1430=) n.9469G= n.2934G= c.5129G= (p.Cys1710=) c.5213G= (p.Cys1738=) c.5261G= (p.Cys1754=) c.4235G= (p.Cys1412=) c.3816G= c.3377G= (p.Cys1126=) c.*1194G= (n.*1194G=) c.4530G= c.4106G= (p.Cys1369=) c.5303G= (p.Cys1768=) c.5300G= (p.Cys1767=) c.5255G= (p.Cys1752=) c.4379G= (p.Cys1460=) c.4148G= (p.Cys1383=) | |
10 | g.94298472G>T | CA377641849 | PLCE1 | c.4337G>T (p.Cys1446Phe) c.*1804G>T (n.*1804G>T) n.1996G>T n.680G>T c.*545G>T (n.*545G>T) c.4289G>T (p.Cys1430Phe) n.9469G>T n.2934G>T c.5129G>T (p.Cys1710Phe) c.5213G>T (p.Cys1738Phe) c.5261G>T (p.Cys1754Phe) c.4235G>T (p.Cys1412Phe) c.3816G>T c.3377G>T (p.Cys1126Phe) c.*1194G>T (n.*1194G>T) c.4530G>T c.4106G>T (p.Cys1369Phe) c.5303G>T (p.Cys1768Phe) c.5300G>T (p.Cys1767Phe) c.5255G>T (p.Cys1752Phe) c.4379G>T (p.Cys1460Phe) c.4148G>T (p.Cys1383Phe) | |
10 | g.94298473T>A | CA377641850 | PLCE1 | c.4338T>A (p.Cys1446Ter) c.*1805T>A (n.*1805T>A) n.1997T>A n.681T>A c.*546T>A (n.*546T>A) c.4290T>A (p.Cys1430Ter) n.9470T>A n.2935T>A c.5130T>A (p.Cys1710Ter) c.5214T>A (p.Cys1738Ter) c.5262T>A (p.Cys1754Ter) c.4236T>A (p.Cys1412Ter) c.3817T>A c.3378T>A (p.Cys1126Ter) c.*1195T>A (n.*1195T>A) c.4531T>A c.4107T>A (p.Cys1369Ter) c.5304T>A (p.Cys1768Ter) c.5301T>A (p.Cys1767Ter) c.5256T>A (p.Cys1752Ter) c.4380T>A (p.Cys1460Ter) c.4149T>A (p.Cys1383Ter) | |
10 | g.94298473T>C | CA470986480 | PLCE1 | c.4338T>C (p.Cys1446=) c.*1805T>C (n.*1805T>C) n.1997T>C n.681T>C c.*546T>C (n.*546T>C) c.4290T>C (p.Cys1430=) n.9470T>C n.2935T>C c.5130T>C (p.Cys1710=) c.5214T>C (p.Cys1738=) c.5262T>C (p.Cys1754=) c.4236T>C (p.Cys1412=) c.3817T>C c.3378T>C (p.Cys1126=) c.*1195T>C (n.*1195T>C) c.4531T>C c.4107T>C (p.Cys1369=) c.5304T>C (p.Cys1768=) c.5301T>C (p.Cys1767=) c.5256T>C (p.Cys1752=) c.4380T>C (p.Cys1460=) c.4149T>C (p.Cys1383=) | |
10 | g.94298473T>G | CA377641851 | PLCE1 | c.4338T>G (p.Cys1446Trp) c.*1805T>G (n.*1805T>G) n.1997T>G n.681T>G c.*546T>G (n.*546T>G) c.4290T>G (p.Cys1430Trp) n.9470T>G n.2935T>G c.5130T>G (p.Cys1710Trp) c.5214T>G (p.Cys1738Trp) c.5262T>G (p.Cys1754Trp) c.4236T>G (p.Cys1412Trp) c.3817T>G c.3378T>G (p.Cys1126Trp) c.*1195T>G (n.*1195T>G) c.4531T>G c.4107T>G (p.Cys1369Trp) c.5304T>G (p.Cys1768Trp) c.5301T>G (p.Cys1767Trp) c.5256T>G (p.Cys1752Trp) c.4380T>G (p.Cys1460Trp) c.4149T>G (p.Cys1383Trp) | |
10 | g.94298474T>A | CA377641852 | PLCE1 | c.4339T>A (p.Tyr1447Asn) c.*1806T>A (n.*1806T>A) n.1998T>A n.682T>A c.*547T>A (n.*547T>A) c.4291T>A (p.Tyr1431Asn) n.9471T>A n.2936T>A c.5131T>A (p.Tyr1711Asn) c.5215T>A (p.Tyr1739Asn) c.5263T>A (p.Tyr1755Asn) c.4237T>A (p.Tyr1413Asn) c.3818T>A c.3379T>A (p.Tyr1127Asn) c.*1196T>A (n.*1196T>A) c.4532T>A c.4108T>A (p.Tyr1370Asn) c.5305T>A (p.Tyr1769Asn) c.5302T>A (p.Tyr1768Asn) c.5257T>A (p.Tyr1753Asn) c.4381T>A (p.Tyr1461Asn) c.4150T>A (p.Tyr1384Asn) | |
10 | g.94298474T>C | CA377641853 | PLCE1 | c.4339T>C (p.Tyr1447His) c.*1806T>C (n.*1806T>C) n.1998T>C n.682T>C c.*547T>C (n.*547T>C) c.4291T>C (p.Tyr1431His) n.9471T>C n.2936T>C c.5131T>C (p.Tyr1711His) c.5215T>C (p.Tyr1739His) c.5263T>C (p.Tyr1755His) c.4237T>C (p.Tyr1413His) c.3818T>C c.3379T>C (p.Tyr1127His) c.*1196T>C (n.*1196T>C) c.4532T>C c.4108T>C (p.Tyr1370His) c.5305T>C (p.Tyr1769His) c.5302T>C (p.Tyr1768His) c.5257T>C (p.Tyr1753His) c.4381T>C (p.Tyr1461His) c.4150T>C (p.Tyr1384His) | |
10 | g.94298474T>G | CA377641854 | PLCE1 | c.4339T>G (p.Tyr1447Asp) c.*1806T>G (n.*1806T>G) n.1998T>G n.682T>G c.*547T>G (n.*547T>G) c.4291T>G (p.Tyr1431Asp) n.9471T>G n.2936T>G c.5131T>G (p.Tyr1711Asp) c.5215T>G (p.Tyr1739Asp) c.5263T>G (p.Tyr1755Asp) c.4237T>G (p.Tyr1413Asp) c.3818T>G c.3379T>G (p.Tyr1127Asp) c.*1196T>G (n.*1196T>G) c.4532T>G c.4108T>G (p.Tyr1370Asp) c.5305T>G (p.Tyr1769Asp) c.5302T>G (p.Tyr1768Asp) c.5257T>G (p.Tyr1753Asp) c.4381T>G (p.Tyr1461Asp) c.4150T>G (p.Tyr1384Asp) | |
10 | g.94298475A>C | CA377641855 | PLCE1 | c.4340A>C (p.Tyr1447Ser) c.*1807A>C (n.*1807A>C) n.1999A>C n.683A>C c.*548A>C (n.*548A>C) c.4292A>C (p.Tyr1431Ser) n.9472A>C n.2937A>C c.5132A>C (p.Tyr1711Ser) c.5216A>C (p.Tyr1739Ser) c.5264A>C (p.Tyr1755Ser) c.4238A>C (p.Tyr1413Ser) c.3819A>C c.3380A>C (p.Tyr1127Ser) c.*1197A>C (n.*1197A>C) c.4533A>C c.4109A>C (p.Tyr1370Ser) c.5306A>C (p.Tyr1769Ser) c.5303A>C (p.Tyr1768Ser) c.5258A>C (p.Tyr1753Ser) c.4382A>C (p.Tyr1461Ser) c.4151A>C (p.Tyr1384Ser) | |
10 | g.94298475A>G | CA377641856 | PLCE1 | c.4340A>G (p.Tyr1447Cys) c.*1807A>G (n.*1807A>G) n.1999A>G n.683A>G c.*548A>G (n.*548A>G) c.4292A>G (p.Tyr1431Cys) n.9472A>G n.2937A>G c.5132A>G (p.Tyr1711Cys) c.5216A>G (p.Tyr1739Cys) c.5264A>G (p.Tyr1755Cys) c.4238A>G (p.Tyr1413Cys) c.3819A>G c.3380A>G (p.Tyr1127Cys) c.*1197A>G (n.*1197A>G) c.4533A>G c.4109A>G (p.Tyr1370Cys) c.5306A>G (p.Tyr1769Cys) c.5303A>G (p.Tyr1768Cys) c.5258A>G (p.Tyr1753Cys) c.4382A>G (p.Tyr1461Cys) c.4151A>G (p.Tyr1384Cys) | gnomAD v4 |
10 | g.94298475A>T | CA377641857 | PLCE1 | c.4340A>T (p.Tyr1447Phe) c.*1807A>T (n.*1807A>T) n.1999A>T n.683A>T c.*548A>T (n.*548A>T) c.4292A>T (p.Tyr1431Phe) n.9472A>T n.2937A>T c.5132A>T (p.Tyr1711Phe) c.5216A>T (p.Tyr1739Phe) c.5264A>T (p.Tyr1755Phe) c.4238A>T (p.Tyr1413Phe) c.3819A>T c.3380A>T (p.Tyr1127Phe) c.*1197A>T (n.*1197A>T) c.4533A>T c.4109A>T (p.Tyr1370Phe) c.5306A>T (p.Tyr1769Phe) c.5303A>T (p.Tyr1768Phe) c.5258A>T (p.Tyr1753Phe) c.4382A>T (p.Tyr1461Phe) c.4151A>T (p.Tyr1384Phe) | |
10 | g.94298476T>A | CA377641858 | PLCE1 | c.4341T>A (p.Tyr1447Ter) c.*1808T>A (n.*1808T>A) n.2000T>A n.684T>A c.*549T>A (n.*549T>A) c.4293T>A (p.Tyr1431Ter) n.9473T>A n.2938T>A c.5133T>A (p.Tyr1711Ter) c.5217T>A (p.Tyr1739Ter) c.5265T>A (p.Tyr1755Ter) c.4239T>A (p.Tyr1413Ter) c.3820T>A c.3381T>A (p.Tyr1127Ter) c.*1198T>A (n.*1198T>A) c.4534T>A c.4110T>A (p.Tyr1370Ter) c.5307T>A (p.Tyr1769Ter) c.5304T>A (p.Tyr1768Ter) c.5259T>A (p.Tyr1753Ter) c.4383T>A (p.Tyr1461Ter) c.4152T>A (p.Tyr1384Ter) | |
10 | g.94298476T>C | CA470986481 | PLCE1 | c.4341T>C (p.Tyr1447=) c.*1808T>C (n.*1808T>C) n.2000T>C n.684T>C c.*549T>C (n.*549T>C) c.4293T>C (p.Tyr1431=) n.9473T>C n.2938T>C c.5133T>C (p.Tyr1711=) c.5217T>C (p.Tyr1739=) c.5265T>C (p.Tyr1755=) c.4239T>C (p.Tyr1413=) c.3820T>C c.3381T>C (p.Tyr1127=) c.*1198T>C (n.*1198T>C) c.4534T>C c.4110T>C (p.Tyr1370=) c.5307T>C (p.Tyr1769=) c.5304T>C (p.Tyr1768=) c.5259T>C (p.Tyr1753=) c.4383T>C (p.Tyr1461=) c.4152T>C (p.Tyr1384=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298476T>G | CA377641859 | PLCE1 | c.4341T>G (p.Tyr1447Ter) c.*1808T>G (n.*1808T>G) n.2000T>G n.684T>G c.*549T>G (n.*549T>G) c.4293T>G (p.Tyr1431Ter) n.9473T>G n.2938T>G c.5133T>G (p.Tyr1711Ter) c.5217T>G (p.Tyr1739Ter) c.5265T>G (p.Tyr1755Ter) c.4239T>G (p.Tyr1413Ter) c.3820T>G c.3381T>G (p.Tyr1127Ter) c.*1198T>G (n.*1198T>G) c.4534T>G c.4110T>G (p.Tyr1370Ter) c.5307T>G (p.Tyr1769Ter) c.5304T>G (p.Tyr1768Ter) c.5259T>G (p.Tyr1753Ter) c.4383T>G (p.Tyr1461Ter) c.4152T>G (p.Tyr1384Ter) | |
10 | g.94298476T= | CA1928998407 | PLCE1 | c.4341T= (p.Tyr1447=) c.*1808T= (n.*1808T=) n.2000T= n.684T= c.*549T= (n.*549T=) c.4293T= (p.Tyr1431=) n.9473T= n.2938T= c.5133T= (p.Tyr1711=) c.5217T= (p.Tyr1739=) c.5265T= (p.Tyr1755=) c.4239T= (p.Tyr1413=) c.3820T= c.3381T= (p.Tyr1127=) c.*1198T= (n.*1198T=) c.4534T= c.4110T= (p.Tyr1370=) c.5307T= (p.Tyr1769=) c.5304T= (p.Tyr1768=) c.5259T= (p.Tyr1753=) c.4383T= (p.Tyr1461=) c.4152T= (p.Tyr1384=) | |
10 | g.94298477C>A | CA377641860 | PLCE1 | c.4342C>A (p.His1448Asn) c.*1809C>A (n.*1809C>A) n.2001C>A n.685C>A c.*550C>A (n.*550C>A) c.4294C>A (p.His1432Asn) n.9474C>A n.2939C>A c.5134C>A (p.His1712Asn) c.5218C>A (p.His1740Asn) c.5266C>A (p.His1756Asn) c.4240C>A (p.His1414Asn) c.3821C>A c.3382C>A (p.His1128Asn) c.*1199C>A (n.*1199C>A) c.4535C>A c.4111C>A c.5308C>A (p.His1770Asn) c.5305C>A (p.His1769Asn) c.5260C>A (p.His1754Asn) c.4384C>A (p.His1462Asn) c.4153C>A (p.His1385Asn) | COSMIC COSMIC COSMIC COSMIC |
10 | g.94298477C>G | CA377641862 | PLCE1 | c.4342C>G (p.His1448Asp) c.*1809C>G (n.*1809C>G) n.2001C>G n.685C>G c.*550C>G (n.*550C>G) c.4294C>G (p.His1432Asp) n.9474C>G n.2939C>G c.5134C>G (p.His1712Asp) c.5218C>G (p.His1740Asp) c.5266C>G (p.His1756Asp) c.4240C>G (p.His1414Asp) c.3821C>G c.3382C>G (p.His1128Asp) c.*1199C>G (n.*1199C>G) c.4535C>G c.4111C>G c.5308C>G (p.His1770Asp) c.5305C>G (p.His1769Asp) c.5260C>G (p.His1754Asp) c.4384C>G (p.His1462Asp) c.4153C>G (p.His1385Asp) | |
10 | g.94298477C>T | CA377641861 | PLCE1 | c.4342C>T (p.His1448Tyr) c.*1809C>T (n.*1809C>T) n.2001C>T n.685C>T c.*550C>T (n.*550C>T) c.4294C>T (p.His1432Tyr) n.9474C>T n.2939C>T c.5134C>T (p.His1712Tyr) c.5218C>T (p.His1740Tyr) c.5266C>T (p.His1756Tyr) c.4240C>T (p.His1414Tyr) c.3821C>T c.3382C>T (p.His1128Tyr) c.*1199C>T (n.*1199C>T) c.4535C>T c.4111C>T c.5308C>T (p.His1770Tyr) c.5305C>T (p.His1769Tyr) c.5260C>T (p.His1754Tyr) c.4384C>T (p.His1462Tyr) c.4153C>T (p.His1385Tyr) | |
10 | g.94298478A= | CA1928998408 | PLCE1 | c.4343A= (p.His1448=) c.*1810A= (n.*1810A=) n.2002A= n.686A= c.*551A= (n.*551A=) c.4295A= (p.His1432=) n.9475A= n.2940A= c.5135A= (p.His1712=) c.5219A= (p.His1740=) c.5267A= (p.His1756=) c.4241A= (p.His1414=) c.3822A= c.3383A= (p.His1128=) c.*1200A= (n.*1200A=) c.4536A= c.5309A= (p.His1770=) c.5306A= (p.His1769=) c.5261A= (p.His1754=) c.4385A= (p.His1462=) c.4154A= (p.His1385=) | |
10 | g.94298478A>C | CA377641863 | PLCE1 | c.4343A>C (p.His1448Pro) c.*1810A>C (n.*1810A>C) n.2002A>C n.686A>C c.*551A>C (n.*551A>C) c.4295A>C (p.His1432Pro) n.9475A>C n.2940A>C c.5135A>C (p.His1712Pro) c.5219A>C (p.His1740Pro) c.5267A>C (p.His1756Pro) c.4241A>C (p.His1414Pro) c.3822A>C c.3383A>C (p.His1128Pro) c.*1200A>C (n.*1200A>C) c.4536A>C c.5309A>C (p.His1770Pro) c.5306A>C (p.His1769Pro) c.5261A>C (p.His1754Pro) c.4385A>C (p.His1462Pro) c.4154A>C (p.His1385Pro) | |
10 | g.94298478A>G | CA5613324 | PLCE1 | c.4343A>G (p.His1448Arg) c.*1810A>G (n.*1810A>G) n.2002A>G n.686A>G c.*551A>G (n.*551A>G) c.4295A>G (p.His1432Arg) n.9475A>G n.2940A>G c.5135A>G (p.His1712Arg) c.5219A>G (p.His1740Arg) c.5267A>G (p.His1756Arg) c.4241A>G (p.His1414Arg) c.3822A>G c.3383A>G (p.His1128Arg) c.*1200A>G (n.*1200A>G) c.4536A>G c.5309A>G (p.His1770Arg) c.5306A>G (p.His1769Arg) c.5261A>G (p.His1754Arg) c.4385A>G (p.His1462Arg) c.4154A>G (p.His1385Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298478A>T | CA377641864 | PLCE1 | c.4343A>T (p.His1448Leu) c.*1810A>T (n.*1810A>T) n.2002A>T n.686A>T c.*551A>T (n.*551A>T) c.4295A>T (p.His1432Leu) n.9475A>T n.2940A>T c.5135A>T (p.His1712Leu) c.5219A>T (p.His1740Leu) c.5267A>T (p.His1756Leu) c.4241A>T (p.His1414Leu) c.3822A>T c.3383A>T (p.His1128Leu) c.*1200A>T (n.*1200A>T) c.4536A>T c.5309A>T (p.His1770Leu) c.5306A>T (p.His1769Leu) c.5261A>T (p.His1754Leu) c.4385A>T (p.His1462Leu) c.4154A>T (p.His1385Leu) | |
10 | g.94298479T>A | CA377641865 | PLCE1 | c.4344T>A (p.His1448Gln) c.*1811T>A (n.*1811T>A) n.2003T>A n.687T>A c.*552T>A (n.*552T>A) c.4296T>A (p.His1432Gln) n.9476T>A n.2941T>A c.5136T>A (p.His1712Gln) c.5220T>A (p.His1740Gln) c.5268T>A (p.His1756Gln) c.4242T>A (p.His1414Gln) c.3823T>A c.3384T>A (p.His1128Gln) c.*1201T>A (n.*1201T>A) c.4537T>A c.5310T>A (p.His1770Gln) c.5307T>A (p.His1769Gln) c.5262T>A (p.His1754Gln) c.4386T>A (p.His1462Gln) c.4155T>A (p.His1385Gln) | |
10 | g.94298479T>C | CA470986482 | PLCE1 | c.4344T>C (p.His1448=) c.*1811T>C (n.*1811T>C) n.2003T>C n.687T>C c.*552T>C (n.*552T>C) c.4296T>C (p.His1432=) n.9476T>C n.2941T>C c.5136T>C (p.His1712=) c.5220T>C (p.His1740=) c.5268T>C (p.His1756=) c.4242T>C (p.His1414=) c.3823T>C c.3384T>C (p.His1128=) c.*1201T>C (n.*1201T>C) c.4537T>C c.5310T>C (p.His1770=) c.5307T>C (p.His1769=) c.5262T>C (p.His1754=) c.4386T>C (p.His1462=) c.4155T>C (p.His1385=) | dbSNP gnomAD v4 |
10 | g.94298479T>G | CA377641866 | PLCE1 | c.4344T>G (p.His1448Gln) c.*1811T>G (n.*1811T>G) n.2003T>G n.687T>G c.*552T>G (n.*552T>G) c.4296T>G (p.His1432Gln) n.9476T>G n.2941T>G c.5136T>G (p.His1712Gln) c.5220T>G (p.His1740Gln) c.5268T>G (p.His1756Gln) c.4242T>G (p.His1414Gln) c.3823T>G c.3384T>G (p.His1128Gln) c.*1201T>G (n.*1201T>G) c.4537T>G c.5310T>G (p.His1770Gln) c.5307T>G (p.His1769Gln) c.5262T>G (p.His1754Gln) c.4386T>G (p.His1462Gln) c.4155T>G (p.His1385Gln) | |
10 | g.94298479T= | CA1928998409 | PLCE1 | c.4344T= (p.His1448=) c.*1811T= (n.*1811T=) n.2003T= n.687T= c.*552T= (n.*552T=) c.4296T= (p.His1432=) n.9476T= n.2941T= c.5136T= (p.His1712=) c.5220T= (p.His1740=) c.5268T= (p.His1756=) c.4242T= (p.His1414=) c.3823T= c.3384T= (p.His1128=) c.*1201T= (n.*1201T=) c.4537T= c.5310T= (p.His1770=) c.5307T= (p.His1769=) c.5262T= (p.His1754=) c.4386T= (p.His1462=) c.4155T= (p.His1385=) | |
10 | g.94298479dup | CA2610239639 | PLCE1 | c.4344dup (p.Ile1449TyrfsTer6) c.*1811dup (n.*1811dup) n.2003dup n.687dup c.*552dup (n.*552dup) c.4296dup (p.Ile1433TyrfsTer6) n.9476dup n.2941dup c.5136dup (p.Ile1713TyrfsTer6) c.5220dup (p.Ile1741TyrfsTer6) c.5268dup (p.Ile1757TyrfsTer6) c.4242dup (p.Ile1415TyrfsTer6) c.3823dup c.3384dup (p.Ile1129TyrfsTer6) c.*1201dup (n.*1201dup) c.4537dup c.5310dup (p.Ile1771TyrfsTer6) c.5307dup (p.Ile1770TyrfsTer6) c.5262dup (p.Ile1755TyrfsTer6) c.4386dup (p.Ile1463TyrfsTer6) c.4155dup (p.Ile1386TyrfsTer6) | gnomAD v4 |
10 | g.94298480A>C | CA377641867 | PLCE1 | c.4345A>C (p.Ile1449Leu) c.*1812A>C (n.*1812A>C) n.2004A>C n.688A>C c.*553A>C (n.*553A>C) c.4297A>C (p.Ile1433Leu) n.9477A>C n.2942A>C c.5137A>C (p.Ile1713Leu) c.5221A>C (p.Ile1741Leu) c.5269A>C (p.Ile1757Leu) c.4243A>C (p.Ile1415Leu) c.3824A>C c.3385A>C (p.Ile1129Leu) c.*1202A>C (n.*1202A>C) c.4538A>C c.5311A>C (p.Ile1771Leu) c.5308A>C (p.Ile1770Leu) c.5263A>C (p.Ile1755Leu) c.4387A>C (p.Ile1463Leu) c.4156A>C (p.Ile1386Leu) | |
10 | g.94298480A>G | CA377641868 | PLCE1 | c.4345A>G (p.Ile1449Val) c.*1812A>G (n.*1812A>G) n.2004A>G n.688A>G c.*553A>G (n.*553A>G) c.4297A>G (p.Ile1433Val) n.9477A>G n.2942A>G c.5137A>G (p.Ile1713Val) c.5221A>G (p.Ile1741Val) c.5269A>G (p.Ile1757Val) c.4243A>G (p.Ile1415Val) c.3824A>G c.3385A>G (p.Ile1129Val) c.*1202A>G (n.*1202A>G) c.4538A>G c.5311A>G (p.Ile1771Val) c.5308A>G (p.Ile1770Val) c.5263A>G (p.Ile1755Val) c.4387A>G (p.Ile1463Val) c.4156A>G (p.Ile1386Val) | gnomAD v4 |
10 | g.94298480A>T | CA377641869 | PLCE1 | c.4345A>T (p.Ile1449Phe) c.*1812A>T (n.*1812A>T) n.2004A>T n.688A>T c.*553A>T (n.*553A>T) c.4297A>T (p.Ile1433Phe) n.9477A>T n.2942A>T c.5137A>T (p.Ile1713Phe) c.5221A>T (p.Ile1741Phe) c.5269A>T (p.Ile1757Phe) c.4243A>T (p.Ile1415Phe) c.3824A>T c.3385A>T (p.Ile1129Phe) c.*1202A>T (n.*1202A>T) c.4538A>T c.5311A>T (p.Ile1771Phe) c.5308A>T (p.Ile1770Phe) c.5263A>T (p.Ile1755Phe) c.4387A>T (p.Ile1463Phe) c.4156A>T (p.Ile1386Phe) | |
10 | g.94298481T>A | CA377641870 | PLCE1 | c.4346T>A (p.Ile1449Asn) c.*1813T>A (n.*1813T>A) n.2005T>A n.689T>A c.*554T>A (n.*554T>A) c.4298T>A (p.Ile1433Asn) n.9478T>A n.2943T>A c.5138T>A (p.Ile1713Asn) c.5222T>A (p.Ile1741Asn) c.5270T>A (p.Ile1757Asn) c.4244T>A (p.Ile1415Asn) c.3825T>A c.3386T>A (p.Ile1129Asn) c.*1203T>A (n.*1203T>A) c.4539T>A c.5312T>A (p.Ile1771Asn) c.5309T>A (p.Ile1770Asn) c.5264T>A (p.Ile1755Asn) c.4388T>A (p.Ile1463Asn) c.4157T>A (p.Ile1386Asn) | gnomAD v4 |
10 | g.94298481T>C | CA377641871 | PLCE1 | c.4346T>C (p.Ile1449Thr) c.*1813T>C (n.*1813T>C) n.2005T>C n.689T>C c.*554T>C (n.*554T>C) c.4298T>C (p.Ile1433Thr) n.9478T>C n.2943T>C c.5138T>C (p.Ile1713Thr) c.5222T>C (p.Ile1741Thr) c.5270T>C (p.Ile1757Thr) c.4244T>C (p.Ile1415Thr) c.3825T>C c.3386T>C (p.Ile1129Thr) c.*1203T>C (n.*1203T>C) c.4539T>C c.5312T>C (p.Ile1771Thr) c.5309T>C (p.Ile1770Thr) c.5264T>C (p.Ile1755Thr) c.4388T>C (p.Ile1463Thr) c.4157T>C (p.Ile1386Thr) | |
10 | g.94298481T>G | CA377641872 | PLCE1 | c.4346T>G (p.Ile1449Ser) c.*1813T>G (n.*1813T>G) n.2005T>G n.689T>G c.*554T>G (n.*554T>G) c.4298T>G (p.Ile1433Ser) n.9478T>G n.2943T>G c.5138T>G (p.Ile1713Ser) c.5222T>G (p.Ile1741Ser) c.5270T>G (p.Ile1757Ser) c.4244T>G (p.Ile1415Ser) c.3825T>G c.3386T>G (p.Ile1129Ser) c.*1203T>G (n.*1203T>G) c.4539T>G c.5312T>G (p.Ile1771Ser) c.5309T>G (p.Ile1770Ser) c.5264T>G (p.Ile1755Ser) c.4388T>G (p.Ile1463Ser) c.4157T>G (p.Ile1386Ser) | |
10 | g.94298482C>A | CA470986483 | PLCE1 | c.4347C>A (p.Ile1449=) c.*1814C>A (n.*1814C>A) n.2006C>A n.690C>A c.*555C>A (n.*555C>A) c.4299C>A (p.Ile1433=) n.9479C>A n.2944C>A c.5139C>A (p.Ile1713=) c.5223C>A (p.Ile1741=) c.5271C>A (p.Ile1757=) c.4245C>A (p.Ile1415=) c.3826C>A c.3387C>A (p.Ile1129=) c.*1204C>A (n.*1204C>A) c.4540C>A c.5313C>A (p.Ile1771=) c.5310C>A (p.Ile1770=) c.5265C>A (p.Ile1755=) c.4389C>A (p.Ile1463=) c.4158C>A (p.Ile1386=) | |
10 | g.94298482C= | CA1928998410 | PLCE1 | c.4347C= (p.Ile1449=) c.*1814C= (n.*1814C=) n.2006C= n.690C= c.*555C= (n.*555C=) c.4299C= (p.Ile1433=) n.9479C= n.2944C= c.5139C= (p.Ile1713=) c.5223C= (p.Ile1741=) c.5271C= (p.Ile1757=) c.4245C= (p.Ile1415=) c.3826C= c.3387C= (p.Ile1129=) c.*1204C= (n.*1204C=) c.4540C= c.5313C= (p.Ile1771=) c.5310C= (p.Ile1770=) c.5265C= (p.Ile1755=) c.4389C= (p.Ile1463=) c.4158C= (p.Ile1386=) | |
10 | g.94298482C>G | CA377641873 | PLCE1 | c.4347C>G (p.Ile1449Met) c.*1814C>G (n.*1814C>G) n.2006C>G n.690C>G c.*555C>G (n.*555C>G) c.4299C>G (p.Ile1433Met) n.9479C>G n.2944C>G c.5139C>G (p.Ile1713Met) c.5223C>G (p.Ile1741Met) c.5271C>G (p.Ile1757Met) c.4245C>G (p.Ile1415Met) c.3826C>G c.3387C>G (p.Ile1129Met) c.*1204C>G (n.*1204C>G) c.4540C>G c.5313C>G (p.Ile1771Met) c.5310C>G (p.Ile1770Met) c.5265C>G (p.Ile1755Met) c.4389C>G (p.Ile1463Met) c.4158C>G (p.Ile1386Met) | |
10 | g.94298482C>T | CA211599649 | PLCE1 | c.4347C>T (p.Ile1449=) c.*1814C>T (n.*1814C>T) n.2006C>T n.690C>T c.*555C>T (n.*555C>T) c.4299C>T (p.Ile1433=) n.9479C>T n.2944C>T c.5139C>T (p.Ile1713=) c.5223C>T (p.Ile1741=) c.5271C>T (p.Ile1757=) c.4245C>T (p.Ile1415=) c.3826C>T c.3387C>T (p.Ile1129=) c.*1204C>T (n.*1204C>T) c.4540C>T c.5313C>T (p.Ile1771=) c.5310C>T (p.Ile1770=) c.5265C>T (p.Ile1755=) c.4389C>T (p.Ile1463=) c.4158C>T (p.Ile1386=) | dbSNP |