Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.94298553C>A | CA377642022 | PLCE1 | c.4418C>A (p.Ala1473Asp) c.*1885C>A (n.*1885C>A) n.2077C>A n.761C>A c.*626C>A (n.*626C>A) c.4370C>A (p.Ala1457Asp) n.9550C>A n.3015C>A c.5210C>A (p.Ala1737Asp) c.5294C>A (p.Ala1765Asp) c.5342C>A (p.Ala1781Asp) c.4316C>A (p.Ala1439Asp) c.3897C>A c.3458C>A (p.Ala1153Asp) c.*1275C>A (n.*1275C>A) c.4611C>A c.5384C>A (p.Ala1795Asp) c.5381C>A (p.Ala1794Asp) c.5336C>A (p.Ala1779Asp) c.4460C>A (p.Ala1487Asp) c.4229C>A (p.Ala1410Asp) | |
10 | g.94298553C= | CA1928998437 | PLCE1 | c.4418C= (p.Ala1473=) c.*1885C= (n.*1885C=) n.2077C= n.761C= c.*626C= (n.*626C=) c.4370C= (p.Ala1457=) n.9550C= n.3015C= c.5210C= (p.Ala1737=) c.5294C= (p.Ala1765=) c.5342C= (p.Ala1781=) c.4316C= (p.Ala1439=) c.3897C= c.3458C= (p.Ala1153=) c.*1275C= (n.*1275C=) c.4611C= c.5384C= (p.Ala1795=) c.5381C= (p.Ala1794=) c.5336C= (p.Ala1779=) c.4460C= (p.Ala1487=) c.4229C= (p.Ala1410=) | |
10 | g.94298553C>G | CA377642023 | PLCE1 | c.4418C>G (p.Ala1473Gly) c.*1885C>G (n.*1885C>G) n.2077C>G n.761C>G c.*626C>G (n.*626C>G) c.4370C>G (p.Ala1457Gly) n.9550C>G n.3015C>G c.5210C>G (p.Ala1737Gly) c.5294C>G (p.Ala1765Gly) c.5342C>G (p.Ala1781Gly) c.4316C>G (p.Ala1439Gly) c.3897C>G c.3458C>G (p.Ala1153Gly) c.*1275C>G (n.*1275C>G) c.4611C>G c.5384C>G (p.Ala1795Gly) c.5381C>G (p.Ala1794Gly) c.5336C>G (p.Ala1779Gly) c.4460C>G (p.Ala1487Gly) c.4229C>G (p.Ala1410Gly) | |
10 | g.94298553C>T | CA377642024 | PLCE1 | c.4418C>T (p.Ala1473Val) c.*1885C>T (n.*1885C>T) n.2077C>T n.761C>T c.*626C>T (n.*626C>T) c.4370C>T (p.Ala1457Val) n.9550C>T n.3015C>T c.5210C>T (p.Ala1737Val) c.5294C>T (p.Ala1765Val) c.5342C>T (p.Ala1781Val) c.4316C>T (p.Ala1439Val) c.3897C>T c.3458C>T (p.Ala1153Val) c.*1275C>T (n.*1275C>T) c.4611C>T c.5384C>T (p.Ala1795Val) c.5381C>T (p.Ala1794Val) c.5336C>T (p.Ala1779Val) c.4460C>T (p.Ala1487Val) c.4229C>T (p.Ala1410Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298554C>A | CA470986561 | PLCE1 | c.4419C>A (p.Ala1473=) c.*1886C>A (n.*1886C>A) n.2078C>A n.762C>A c.*627C>A (n.*627C>A) c.4371C>A (p.Ala1457=) n.9551C>A n.3016C>A c.5211C>A (p.Ala1737=) c.5295C>A (p.Ala1765=) c.5343C>A (p.Ala1781=) c.4317C>A (p.Ala1439=) c.3898C>A c.3459C>A (p.Ala1153=) c.*1276C>A (n.*1276C>A) c.4612C>A c.5385C>A (p.Ala1795=) c.5382C>A (p.Ala1794=) c.5337C>A (p.Ala1779=) c.4461C>A (p.Ala1487=) c.4230C>A (p.Ala1410=) | |
10 | g.94298554C>G | CA470986562 | PLCE1 | c.4419C>G (p.Ala1473=) c.*1886C>G (n.*1886C>G) n.2078C>G n.762C>G c.*627C>G (n.*627C>G) c.4371C>G (p.Ala1457=) n.9551C>G n.3016C>G c.5211C>G (p.Ala1737=) c.5295C>G (p.Ala1765=) c.5343C>G (p.Ala1781=) c.4317C>G (p.Ala1439=) c.3898C>G c.3459C>G (p.Ala1153=) c.*1276C>G (n.*1276C>G) c.4612C>G c.5385C>G (p.Ala1795=) c.5382C>G (p.Ala1794=) c.5337C>G (p.Ala1779=) c.4461C>G (p.Ala1487=) c.4230C>G (p.Ala1410=) | |
10 | g.94298554C>T | CA470986563 | PLCE1 | c.4419C>T (p.Ala1473=) c.*1886C>T (n.*1886C>T) n.2078C>T n.762C>T c.*627C>T (n.*627C>T) c.4371C>T (p.Ala1457=) n.9551C>T n.3016C>T c.5211C>T (p.Ala1737=) c.5295C>T (p.Ala1765=) c.5343C>T (p.Ala1781=) c.4317C>T (p.Ala1439=) c.3898C>T c.3459C>T (p.Ala1153=) c.*1276C>T (n.*1276C>T) c.4612C>T c.5385C>T (p.Ala1795=) c.5382C>T (p.Ala1794=) c.5337C>T (p.Ala1779=) c.4461C>T (p.Ala1487=) c.4230C>T (p.Ala1410=) | |
10 | g.94298555T>A | CA377642025 | PLCE1 | c.4420T>A (p.Cys1474Ser) c.*1887T>A (n.*1887T>A) n.2079T>A n.763T>A c.*628T>A (n.*628T>A) c.4372T>A (p.Cys1458Ser) n.9552T>A n.3017T>A c.5212T>A (p.Cys1738Ser) c.5296T>A (p.Cys1766Ser) c.5344T>A (p.Cys1782Ser) c.4318T>A (p.Cys1440Ser) c.3899T>A c.3460T>A (p.Cys1154Ser) c.*1277T>A (n.*1277T>A) c.4613T>A c.5386T>A (p.Cys1796Ser) c.5383T>A (p.Cys1795Ser) c.5338T>A (p.Cys1780Ser) c.4462T>A (p.Cys1488Ser) c.4231T>A (p.Cys1411Ser) | |
10 | g.94298555T>C | CA377642027 | PLCE1 | c.4420T>C (p.Cys1474Arg) c.*1887T>C (n.*1887T>C) n.2079T>C n.763T>C c.*628T>C (n.*628T>C) c.4372T>C (p.Cys1458Arg) n.9552T>C n.3017T>C c.5212T>C (p.Cys1738Arg) c.5296T>C (p.Cys1766Arg) c.5344T>C (p.Cys1782Arg) c.4318T>C (p.Cys1440Arg) c.3899T>C c.3460T>C (p.Cys1154Arg) c.*1277T>C (n.*1277T>C) c.4613T>C c.5386T>C (p.Cys1796Arg) c.5383T>C (p.Cys1795Arg) c.5338T>C (p.Cys1780Arg) c.4462T>C (p.Cys1488Arg) c.4231T>C (p.Cys1411Arg) | |
10 | g.94298555T>G | CA377642026 | PLCE1 | c.4420T>G (p.Cys1474Gly) c.*1887T>G (n.*1887T>G) n.2079T>G n.763T>G c.*628T>G (n.*628T>G) c.4372T>G (p.Cys1458Gly) n.9552T>G n.3017T>G c.5212T>G (p.Cys1738Gly) c.5296T>G (p.Cys1766Gly) c.5344T>G (p.Cys1782Gly) c.4318T>G (p.Cys1440Gly) c.3899T>G c.3460T>G (p.Cys1154Gly) c.*1277T>G (n.*1277T>G) c.4613T>G c.5386T>G (p.Cys1796Gly) c.5383T>G (p.Cys1795Gly) c.5338T>G (p.Cys1780Gly) c.4462T>G (p.Cys1488Gly) c.4231T>G (p.Cys1411Gly) | |
10 | g.94298556G>A | CA377642028 | PLCE1 | c.4421G>A (p.Cys1474Tyr) c.*1888G>A (n.*1888G>A) n.2080G>A n.764G>A c.*629G>A (n.*629G>A) c.4373G>A (p.Cys1458Tyr) n.9553G>A n.3018G>A c.5213G>A (p.Cys1738Tyr) c.5297G>A (p.Cys1766Tyr) c.5345G>A (p.Cys1782Tyr) c.4319G>A (p.Cys1440Tyr) c.3900G>A c.3461G>A (p.Cys1154Tyr) c.*1278G>A (n.*1278G>A) c.4614G>A c.5387G>A (p.Cys1796Tyr) c.5384G>A (p.Cys1795Tyr) c.5339G>A (p.Cys1780Tyr) c.4463G>A (p.Cys1488Tyr) c.4232G>A (p.Cys1411Tyr) | gnomAD v4 |
10 | g.94298556G>C | CA377642029 | PLCE1 | c.4421G>C (p.Cys1474Ser) c.*1888G>C (n.*1888G>C) n.2080G>C n.764G>C c.*629G>C (n.*629G>C) c.4373G>C (p.Cys1458Ser) n.9553G>C n.3018G>C c.5213G>C (p.Cys1738Ser) c.5297G>C (p.Cys1766Ser) c.5345G>C (p.Cys1782Ser) c.4319G>C (p.Cys1440Ser) c.3900G>C c.3461G>C (p.Cys1154Ser) c.*1278G>C (n.*1278G>C) c.4614G>C c.5387G>C (p.Cys1796Ser) c.5384G>C (p.Cys1795Ser) c.5339G>C (p.Cys1780Ser) c.4463G>C (p.Cys1488Ser) c.4232G>C (p.Cys1411Ser) | |
10 | g.94298556G>T | CA377642030 | PLCE1 | c.4421G>T (p.Cys1474Phe) c.*1888G>T (n.*1888G>T) n.2080G>T n.764G>T c.*629G>T (n.*629G>T) c.4373G>T (p.Cys1458Phe) n.9553G>T n.3018G>T c.5213G>T (p.Cys1738Phe) c.5297G>T (p.Cys1766Phe) c.5345G>T (p.Cys1782Phe) c.4319G>T (p.Cys1440Phe) c.3900G>T c.3461G>T (p.Cys1154Phe) c.*1278G>T (n.*1278G>T) c.4614G>T c.5387G>T (p.Cys1796Phe) c.5384G>T (p.Cys1795Phe) c.5339G>T (p.Cys1780Phe) c.4463G>T (p.Cys1488Phe) c.4232G>T (p.Cys1411Phe) | |
10 | g.94298556_94298557insGG | CA2789048722 | PLCE1 | c.4421_4422insGG (p.Cys1474TrpfsTer5) c.*1888_*1889insGG (n.*1888_*1889insGG) n.2080_2081insGG n.764_765insGG c.*629_*630insGG (n.*629_*630insGG) c.4373_4374insGG (p.Cys1458TrpfsTer5) n.9553_9554insGG n.3018_3019insGG c.5213_5214insGG (p.Cys1738TrpfsTer5) c.5297_5298insGG (p.Cys1766TrpfsTer5) c.5345_5346insGG (p.Cys1782TrpfsTer5) c.4319_4320insGG (p.Cys1440TrpfsTer5) c.3900_3901insGG c.3461_3462insGG (p.Cys1154TrpfsTer5) c.*1278_*1279insGG (n.*1278_*1279insGG) c.4614_4615insGG c.5387_5388insGG (p.Cys1796TrpfsTer5) c.5384_5385insGG (p.Cys1795TrpfsTer5) c.5339_5340insGG (p.Cys1780TrpfsTer5) c.4463_4464insGG (p.Cys1488TrpfsTer5) c.4232_4233insGG (p.Cys1411TrpfsTer5) | |
10 | g.94298557T>A | CA377642031 | PLCE1 | c.4422T>A (p.Cys1474Ter) c.*1889T>A (n.*1889T>A) n.2081T>A n.765T>A c.*630T>A (n.*630T>A) c.4374T>A (p.Cys1458Ter) n.9554T>A n.3019T>A c.5214T>A (p.Cys1738Ter) c.5298T>A (p.Cys1766Ter) c.5346T>A (p.Cys1782Ter) c.4320T>A (p.Cys1440Ter) c.3901T>A c.3462T>A (p.Cys1154Ter) c.*1279T>A (n.*1279T>A) c.4615T>A c.5388T>A (p.Cys1796Ter) c.5385T>A (p.Cys1795Ter) c.5340T>A (p.Cys1780Ter) c.4464T>A (p.Cys1488Ter) c.4233T>A (p.Cys1411Ter) | |
10 | g.94298557T>C | CA470986564 | PLCE1 | c.4422T>C (p.Cys1474=) c.*1889T>C (n.*1889T>C) n.2081T>C n.765T>C c.*630T>C (n.*630T>C) c.4374T>C (p.Cys1458=) n.9554T>C n.3019T>C c.5214T>C (p.Cys1738=) c.5298T>C (p.Cys1766=) c.5346T>C (p.Cys1782=) c.4320T>C (p.Cys1440=) c.3901T>C c.3462T>C (p.Cys1154=) c.*1279T>C (n.*1279T>C) c.4615T>C c.5388T>C (p.Cys1796=) c.5385T>C (p.Cys1795=) c.5340T>C (p.Cys1780=) c.4464T>C (p.Cys1488=) c.4233T>C (p.Cys1411=) | |
10 | g.94298557T>G | CA377642032 | PLCE1 | c.4422T>G (p.Cys1474Trp) c.*1889T>G (n.*1889T>G) n.2081T>G n.765T>G c.*630T>G (n.*630T>G) c.4374T>G (p.Cys1458Trp) n.9554T>G n.3019T>G c.5214T>G (p.Cys1738Trp) c.5298T>G (p.Cys1766Trp) c.5346T>G (p.Cys1782Trp) c.4320T>G (p.Cys1440Trp) c.3901T>G c.3462T>G (p.Cys1154Trp) c.*1279T>G (n.*1279T>G) c.4615T>G c.5388T>G (p.Cys1796Trp) c.5385T>G (p.Cys1795Trp) c.5340T>G (p.Cys1780Trp) c.4464T>G (p.Cys1488Trp) c.4233T>G (p.Cys1411Trp) | |
10 | g.94298558C>A | CA377642033 | PLCE1 | c.4423C>A (p.Gln1475Lys) c.*1890C>A (n.*1890C>A) n.2082C>A n.766C>A c.*631C>A (n.*631C>A) c.4375C>A (p.Gln1459Lys) n.9555C>A n.3020C>A c.5215C>A (p.Gln1739Lys) c.5299C>A (p.Gln1767Lys) c.5347C>A (p.Gln1783Lys) c.4321C>A (p.Gln1441Lys) c.3902C>A c.3463C>A (p.Gln1155Lys) c.*1280C>A (n.*1280C>A) c.4616C>A c.5389C>A (p.Gln1797Lys) c.5386C>A (p.Gln1796Lys) c.5341C>A (p.Gln1781Lys) c.4465C>A (p.Gln1489Lys) c.4234C>A (p.Gln1412Lys) | |
10 | g.94298558C>G | CA377642034 | PLCE1 | c.4423C>G (p.Gln1475Glu) c.*1890C>G (n.*1890C>G) n.2082C>G n.766C>G c.*631C>G (n.*631C>G) c.4375C>G (p.Gln1459Glu) n.9555C>G n.3020C>G c.5215C>G (p.Gln1739Glu) c.5299C>G (p.Gln1767Glu) c.5347C>G (p.Gln1783Glu) c.4321C>G (p.Gln1441Glu) c.3902C>G c.3463C>G (p.Gln1155Glu) c.*1280C>G (n.*1280C>G) c.4616C>G c.5389C>G (p.Gln1797Glu) c.5386C>G (p.Gln1796Glu) c.5341C>G (p.Gln1781Glu) c.4465C>G (p.Gln1489Glu) c.4234C>G (p.Gln1412Glu) | gnomAD v4 |
10 | g.94298558C>T | CA377642035 | PLCE1 | c.4423C>T (p.Gln1475Ter) c.*1890C>T (n.*1890C>T) n.2082C>T n.766C>T c.*631C>T (n.*631C>T) c.4375C>T (p.Gln1459Ter) n.9555C>T n.3020C>T c.5215C>T (p.Gln1739Ter) c.5299C>T (p.Gln1767Ter) c.5347C>T (p.Gln1783Ter) c.4321C>T (p.Gln1441Ter) c.3902C>T c.3463C>T (p.Gln1155Ter) c.*1280C>T (n.*1280C>T) c.4616C>T c.5389C>T (p.Gln1797Ter) c.5386C>T (p.Gln1796Ter) c.5341C>T (p.Gln1781Ter) c.4465C>T (p.Gln1489Ter) c.4234C>T (p.Gln1412Ter) | |
10 | g.94298559A= | CA1928998438 | PLCE1 | c.4424A= (p.Gln1475=) c.*1891A= (n.*1891A=) n.2083A= n.767A= c.*632A= (n.*632A=) c.4376A= (p.Gln1459=) n.9556A= n.3021A= c.5216A= (p.Gln1739=) c.5300A= (p.Gln1767=) c.5348A= (p.Gln1783=) c.4322A= (p.Gln1441=) c.3903A= c.3464A= (p.Gln1155=) c.*1281A= (n.*1281A=) c.4617A= c.5390A= (p.Gln1797=) c.5387A= (p.Gln1796=) c.5342A= (p.Gln1781=) c.4466A= (p.Gln1489=) c.4235A= (p.Gln1412=) | |
10 | g.94298559A>C | CA377642036 | PLCE1 | c.4424A>C (p.Gln1475Pro) c.*1891A>C (n.*1891A>C) n.2083A>C n.767A>C c.*632A>C (n.*632A>C) c.4376A>C (p.Gln1459Pro) n.9556A>C n.3021A>C c.5216A>C (p.Gln1739Pro) c.5300A>C (p.Gln1767Pro) c.5348A>C (p.Gln1783Pro) c.4322A>C (p.Gln1441Pro) c.3903A>C c.3464A>C (p.Gln1155Pro) c.*1281A>C (n.*1281A>C) c.4617A>C c.5390A>C (p.Gln1797Pro) c.5387A>C (p.Gln1796Pro) c.5342A>C (p.Gln1781Pro) c.4466A>C (p.Gln1489Pro) c.4235A>C (p.Gln1412Pro) | |
10 | g.94298559A>G | CA5613343 | PLCE1 | c.4424A>G (p.Gln1475Arg) c.*1891A>G (n.*1891A>G) n.2083A>G n.767A>G c.*632A>G (n.*632A>G) c.4376A>G (p.Gln1459Arg) n.9556A>G n.3021A>G c.5216A>G (p.Gln1739Arg) c.5300A>G (p.Gln1767Arg) c.5348A>G (p.Gln1783Arg) c.4322A>G (p.Gln1441Arg) c.3903A>G c.3464A>G (p.Gln1155Arg) c.*1281A>G (n.*1281A>G) c.4617A>G c.5390A>G (p.Gln1797Arg) c.5387A>G (p.Gln1796Arg) c.5342A>G (p.Gln1781Arg) c.4466A>G (p.Gln1489Arg) c.4235A>G (p.Gln1412Arg) | dbSNP ExAC gnomAD v2 |
10 | g.94298559A>T | CA377642037 | PLCE1 | c.4424A>T (p.Gln1475Leu) c.*1891A>T (n.*1891A>T) n.2083A>T n.767A>T c.*632A>T (n.*632A>T) c.4376A>T (p.Gln1459Leu) n.9556A>T n.3021A>T c.5216A>T (p.Gln1739Leu) c.5300A>T (p.Gln1767Leu) c.5348A>T (p.Gln1783Leu) c.4322A>T (p.Gln1441Leu) c.3903A>T c.3464A>T (p.Gln1155Leu) c.*1281A>T (n.*1281A>T) c.4617A>T c.5390A>T (p.Gln1797Leu) c.5387A>T (p.Gln1796Leu) c.5342A>T (p.Gln1781Leu) c.4466A>T (p.Gln1489Leu) c.4235A>T (p.Gln1412Leu) | |
10 | g.94298560G>A | CA470986567 | PLCE1 | c.4425G>A (p.Gln1475=) c.*1892G>A (n.*1892G>A) n.2084G>A n.768G>A c.*633G>A (n.*633G>A) c.4377G>A (p.Gln1459=) n.9557G>A n.3022G>A c.5217G>A (p.Gln1739=) c.5301G>A (p.Gln1767=) c.5349G>A (p.Gln1783=) c.4323G>A (p.Gln1441=) c.3904G>A c.3465G>A (p.Gln1155=) c.*1282G>A (n.*1282G>A) c.4618G>A c.5391G>A (p.Gln1797=) c.5388G>A (p.Gln1796=) c.5343G>A (p.Gln1781=) c.4467G>A (p.Gln1489=) c.4236G>A (p.Gln1412=) | dbSNP |
10 | g.94298560G>C | CA377642038 | PLCE1 | c.4425G>C (p.Gln1475His) c.*1892G>C (n.*1892G>C) n.2084G>C n.768G>C c.*633G>C (n.*633G>C) c.4377G>C (p.Gln1459His) n.9557G>C n.3022G>C c.5217G>C (p.Gln1739His) c.5301G>C (p.Gln1767His) c.5349G>C (p.Gln1783His) c.4323G>C (p.Gln1441His) c.3904G>C c.3465G>C (p.Gln1155His) c.*1282G>C (n.*1282G>C) c.4618G>C c.5391G>C (p.Gln1797His) c.5388G>C (p.Gln1796His) c.5343G>C (p.Gln1781His) c.4467G>C (p.Gln1489His) c.4236G>C (p.Gln1412His) | |
10 | g.94298560G= | CA1928998439 | PLCE1 | c.4425G= (p.Gln1475=) c.*1892G= (n.*1892G=) n.2084G= n.768G= c.*633G= (n.*633G=) c.4377G= (p.Gln1459=) n.9557G= n.3022G= c.5217G= (p.Gln1739=) c.5301G= (p.Gln1767=) c.5349G= (p.Gln1783=) c.4323G= (p.Gln1441=) c.3904G= c.3465G= (p.Gln1155=) c.*1282G= (n.*1282G=) c.4618G= c.5391G= (p.Gln1797=) c.5388G= (p.Gln1796=) c.5343G= (p.Gln1781=) c.4467G= (p.Gln1489=) c.4236G= (p.Gln1412=) | |
10 | g.94298560G>T | CA377642039 | PLCE1 | c.4425G>T (p.Gln1475His) c.*1892G>T (n.*1892G>T) n.2084G>T n.768G>T c.*633G>T (n.*633G>T) c.4377G>T (p.Gln1459His) n.9557G>T n.3022G>T c.5217G>T (p.Gln1739His) c.5301G>T (p.Gln1767His) c.5349G>T (p.Gln1783His) c.4323G>T (p.Gln1441His) c.3904G>T c.3465G>T (p.Gln1155His) c.*1282G>T (n.*1282G>T) c.4618G>T c.5391G>T (p.Gln1797His) c.5388G>T (p.Gln1796His) c.5343G>T (p.Gln1781His) c.4467G>T (p.Gln1489His) c.4236G>T (p.Gln1412His) | gnomAD v4 |
10 | g.94298561C>A | CA377642041 | PLCE1 | c.4426C>A (p.Leu1476Met) c.*1893C>A (n.*1893C>A) n.2085C>A n.769C>A c.*634C>A (n.*634C>A) c.4378C>A (p.Leu1460Met) n.9558C>A n.3023C>A c.5218C>A (p.Leu1740Met) c.5302C>A (p.Leu1768Met) c.5350C>A (p.Leu1784Met) c.4324C>A (p.Leu1442Met) c.3905C>A c.3466C>A (p.Leu1156Met) c.*1283C>A (n.*1283C>A) c.4619C>A c.5392C>A (p.Leu1798Met) c.5389C>A (p.Leu1797Met) c.5344C>A (p.Leu1782Met) c.4468C>A (p.Leu1490Met) c.4237C>A (p.Leu1413Met) | |
10 | g.94298561C>G | CA377642040 | PLCE1 | c.4426C>G (p.Leu1476Val) c.*1893C>G (n.*1893C>G) n.2085C>G n.769C>G c.*634C>G (n.*634C>G) c.4378C>G (p.Leu1460Val) n.9558C>G n.3023C>G c.5218C>G (p.Leu1740Val) c.5302C>G (p.Leu1768Val) c.5350C>G (p.Leu1784Val) c.4324C>G (p.Leu1442Val) c.3905C>G c.3466C>G (p.Leu1156Val) c.*1283C>G (n.*1283C>G) c.4619C>G c.5392C>G (p.Leu1798Val) c.5389C>G (p.Leu1797Val) c.5344C>G (p.Leu1782Val) c.4468C>G (p.Leu1490Val) c.4237C>G (p.Leu1413Val) | |
10 | g.94298561C>T | CA470986569 | PLCE1 | c.4426C>T (p.Leu1476=) c.*1893C>T (n.*1893C>T) n.2085C>T n.769C>T c.*634C>T (n.*634C>T) c.4378C>T (p.Leu1460=) n.9558C>T n.3023C>T c.5218C>T (p.Leu1740=) c.5302C>T (p.Leu1768=) c.5350C>T (p.Leu1784=) c.4324C>T (p.Leu1442=) c.3905C>T c.3466C>T (p.Leu1156=) c.*1283C>T (n.*1283C>T) c.4619C>T c.5392C>T (p.Leu1798=) c.5389C>T (p.Leu1797=) c.5344C>T (p.Leu1782=) c.4468C>T (p.Leu1490=) c.4237C>T (p.Leu1413=) | |
10 | g.94298562T>A | CA377642042 | PLCE1 | c.4427T>A (p.Leu1476Gln) c.*1894T>A (n.*1894T>A) n.2086T>A n.770T>A c.*635T>A (n.*635T>A) c.4379T>A (p.Leu1460Gln) n.9559T>A n.3024T>A c.5219T>A (p.Leu1740Gln) c.5303T>A (p.Leu1768Gln) c.5351T>A (p.Leu1784Gln) c.4325T>A (p.Leu1442Gln) c.3906T>A c.3467T>A (p.Leu1156Gln) c.*1284T>A (n.*1284T>A) c.4620T>A c.5393T>A (p.Leu1798Gln) c.5390T>A (p.Leu1797Gln) c.5345T>A (p.Leu1782Gln) c.4469T>A (p.Leu1490Gln) c.4238T>A (p.Leu1413Gln) | |
10 | g.94298562T>C | CA377642043 | PLCE1 | c.4427T>C (p.Leu1476Pro) c.*1894T>C (n.*1894T>C) n.2086T>C n.770T>C c.*635T>C (n.*635T>C) c.4379T>C (p.Leu1460Pro) n.9559T>C n.3024T>C c.5219T>C (p.Leu1740Pro) c.5303T>C (p.Leu1768Pro) c.5351T>C (p.Leu1784Pro) c.4325T>C (p.Leu1442Pro) c.3906T>C c.3467T>C (p.Leu1156Pro) c.*1284T>C (n.*1284T>C) c.4620T>C c.5393T>C (p.Leu1798Pro) c.5390T>C (p.Leu1797Pro) c.5345T>C (p.Leu1782Pro) c.4469T>C (p.Leu1490Pro) c.4238T>C (p.Leu1413Pro) | |
10 | g.94298562T>G | CA377642044 | PLCE1 | c.4427T>G (p.Leu1476Arg) c.*1894T>G (n.*1894T>G) n.2086T>G n.770T>G c.*635T>G (n.*635T>G) c.4379T>G (p.Leu1460Arg) n.9559T>G n.3024T>G c.5219T>G (p.Leu1740Arg) c.5303T>G (p.Leu1768Arg) c.5351T>G (p.Leu1784Arg) c.4325T>G (p.Leu1442Arg) c.3906T>G c.3467T>G (p.Leu1156Arg) c.*1284T>G (n.*1284T>G) c.4620T>G c.5393T>G (p.Leu1798Arg) c.5390T>G (p.Leu1797Arg) c.5345T>G (p.Leu1782Arg) c.4469T>G (p.Leu1490Arg) c.4238T>G (p.Leu1413Arg) | |
10 | g.94298563G>A | CA470986570 | PLCE1 | c.4428G>A (p.Leu1476=) c.*1895G>A (n.*1895G>A) n.2087G>A n.771G>A c.*636G>A (n.*636G>A) c.4380G>A (p.Leu1460=) n.9560G>A n.3025G>A c.5220G>A (p.Leu1740=) c.5304G>A (p.Leu1768=) c.5352G>A (p.Leu1784=) c.4326G>A (p.Leu1442=) c.3907G>A c.3468G>A (p.Leu1156=) c.*1285G>A (n.*1285G>A) c.4621G>A c.5394G>A (p.Leu1798=) c.5391G>A (p.Leu1797=) c.5346G>A (p.Leu1782=) c.4470G>A (p.Leu1490=) c.4239G>A (p.Leu1413=) | |
10 | g.94298563G>C | CA470986572 | PLCE1 | c.4428G>C (p.Leu1476=) c.*1895G>C (n.*1895G>C) n.2087G>C n.771G>C c.*636G>C (n.*636G>C) c.4380G>C (p.Leu1460=) n.9560G>C n.3025G>C c.5220G>C (p.Leu1740=) c.5304G>C (p.Leu1768=) c.5352G>C (p.Leu1784=) c.4326G>C (p.Leu1442=) c.3907G>C c.3468G>C (p.Leu1156=) c.*1285G>C (n.*1285G>C) c.4621G>C c.5394G>C (p.Leu1798=) c.5391G>C (p.Leu1797=) c.5346G>C (p.Leu1782=) c.4470G>C (p.Leu1490=) c.4239G>C (p.Leu1413=) | |
10 | g.94298563G>T | CA470986571 | PLCE1 | c.4428G>T (p.Leu1476=) c.*1895G>T (n.*1895G>T) n.2087G>T n.771G>T c.*636G>T (n.*636G>T) c.4380G>T (p.Leu1460=) n.9560G>T n.3025G>T c.5220G>T (p.Leu1740=) c.5304G>T (p.Leu1768=) c.5352G>T (p.Leu1784=) c.4326G>T (p.Leu1442=) c.3907G>T c.3468G>T (p.Leu1156=) c.*1285G>T (n.*1285G>T) c.4621G>T c.5394G>T (p.Leu1798=) c.5391G>T (p.Leu1797=) c.5346G>T (p.Leu1782=) c.4470G>T (p.Leu1490=) c.4239G>T (p.Leu1413=) | |
10 | g.94298564C>A | CA377642045 | PLCE1 | c.4429C>A (p.Leu1477Met) c.*1896C>A (n.*1896C>A) n.2088C>A n.772C>A c.*637C>A (n.*637C>A) c.4381C>A (p.Leu1461Met) n.9561C>A n.3026C>A c.5221C>A (p.Leu1741Met) c.5305C>A (p.Leu1769Met) c.5353C>A (p.Leu1785Met) c.4327C>A (p.Leu1443Met) c.3908C>A c.3469C>A (p.Leu1157Met) c.*1286C>A (n.*1286C>A) c.4622C>A c.5395C>A (p.Leu1799Met) c.5392C>A (p.Leu1798Met) c.5347C>A (p.Leu1783Met) c.4471C>A (p.Leu1491Met) c.4240C>A (p.Leu1414Met) | |
10 | g.94298564C>G | CA377642046 | PLCE1 | c.4429C>G (p.Leu1477Val) c.*1896C>G (n.*1896C>G) n.2088C>G n.772C>G c.*637C>G (n.*637C>G) c.4381C>G (p.Leu1461Val) n.9561C>G n.3026C>G c.5221C>G (p.Leu1741Val) c.5305C>G (p.Leu1769Val) c.5353C>G (p.Leu1785Val) c.4327C>G (p.Leu1443Val) c.3908C>G c.3469C>G (p.Leu1157Val) c.*1286C>G (n.*1286C>G) c.4622C>G c.5395C>G (p.Leu1799Val) c.5392C>G (p.Leu1798Val) c.5347C>G (p.Leu1783Val) c.4471C>G (p.Leu1491Val) c.4240C>G (p.Leu1414Val) | |
10 | g.94298564C>T | CA470986574 | PLCE1 | c.4429C>T (p.Leu1477=) c.*1896C>T (n.*1896C>T) n.2088C>T n.772C>T c.*637C>T (n.*637C>T) c.4381C>T (p.Leu1461=) n.9561C>T n.3026C>T c.5221C>T (p.Leu1741=) c.5305C>T (p.Leu1769=) c.5353C>T (p.Leu1785=) c.4327C>T (p.Leu1443=) c.3908C>T c.3469C>T (p.Leu1157=) c.*1286C>T (n.*1286C>T) c.4622C>T c.5395C>T (p.Leu1799=) c.5392C>T (p.Leu1798=) c.5347C>T (p.Leu1783=) c.4471C>T (p.Leu1491=) c.4240C>T (p.Leu1414=) | |
10 | g.94298565T>A | CA377642047 | PLCE1 | c.4430T>A (p.Leu1477Gln) c.*1897T>A (n.*1897T>A) n.2089T>A n.773T>A c.*638T>A (n.*638T>A) c.4382T>A (p.Leu1461Gln) n.9562T>A n.3027T>A c.5222T>A (p.Leu1741Gln) c.5306T>A (p.Leu1769Gln) c.5354T>A (p.Leu1785Gln) c.4328T>A (p.Leu1443Gln) c.3909T>A c.3470T>A (p.Leu1157Gln) c.*1287T>A (n.*1287T>A) c.4623T>A c.5396T>A (p.Leu1799Gln) c.5393T>A (p.Leu1798Gln) c.5348T>A (p.Leu1783Gln) c.4472T>A (p.Leu1491Gln) c.4241T>A (p.Leu1414Gln) | |
10 | g.94298565T>C | CA377642048 | PLCE1 | c.4430T>C (p.Leu1477Pro) c.*1897T>C (n.*1897T>C) n.2089T>C n.773T>C c.*638T>C (n.*638T>C) c.4382T>C (p.Leu1461Pro) n.9562T>C n.3027T>C c.5222T>C (p.Leu1741Pro) c.5306T>C (p.Leu1769Pro) c.5354T>C (p.Leu1785Pro) c.4328T>C (p.Leu1443Pro) c.3909T>C c.3470T>C (p.Leu1157Pro) c.*1287T>C (n.*1287T>C) c.4623T>C c.5396T>C (p.Leu1799Pro) c.5393T>C (p.Leu1798Pro) c.5348T>C (p.Leu1783Pro) c.4472T>C (p.Leu1491Pro) c.4241T>C (p.Leu1414Pro) | |
10 | g.94298565T>G | CA377642049 | PLCE1 | c.4430T>G (p.Leu1477Arg) c.*1897T>G (n.*1897T>G) n.2089T>G n.773T>G c.*638T>G (n.*638T>G) c.4382T>G (p.Leu1461Arg) n.9562T>G n.3027T>G c.5222T>G (p.Leu1741Arg) c.5306T>G (p.Leu1769Arg) c.5354T>G (p.Leu1785Arg) c.4328T>G (p.Leu1443Arg) c.3909T>G c.3470T>G (p.Leu1157Arg) c.*1287T>G (n.*1287T>G) c.4623T>G c.5396T>G (p.Leu1799Arg) c.5393T>G (p.Leu1798Arg) c.5348T>G (p.Leu1783Arg) c.4472T>G (p.Leu1491Arg) c.4241T>G (p.Leu1414Arg) | |
10 | g.94298566G>A | CA470986577 | PLCE1 | c.4431G>A (p.Leu1477=) c.*1898G>A (n.*1898G>A) n.2090G>A n.774G>A c.*639G>A (n.*639G>A) c.4383G>A (p.Leu1461=) n.9563G>A n.3028G>A c.5223G>A (p.Leu1741=) c.5307G>A (p.Leu1769=) c.5355G>A (p.Leu1785=) c.4329G>A (p.Leu1443=) c.3910G>A c.3471G>A (p.Leu1157=) c.*1288G>A (n.*1288G>A) c.4624G>A c.5397G>A (p.Leu1799=) c.5394G>A (p.Leu1798=) c.5349G>A (p.Leu1783=) c.4473G>A (p.Leu1491=) c.4242G>A (p.Leu1414=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298566G>C | CA470986578 | PLCE1 | c.4431G>C (p.Leu1477=) c.*1898G>C (n.*1898G>C) n.2090G>C n.774G>C c.*639G>C (n.*639G>C) c.4383G>C (p.Leu1461=) n.9563G>C n.3028G>C c.5223G>C (p.Leu1741=) c.5307G>C (p.Leu1769=) c.5355G>C (p.Leu1785=) c.4329G>C (p.Leu1443=) c.3910G>C c.3471G>C (p.Leu1157=) c.*1288G>C (n.*1288G>C) c.4624G>C c.5397G>C (p.Leu1799=) c.5394G>C (p.Leu1798=) c.5349G>C (p.Leu1783=) c.4473G>C (p.Leu1491=) c.4242G>C (p.Leu1414=) | |
10 | g.94298566G= | CA1928998440 | PLCE1 | c.4431G= (p.Leu1477=) c.*1898G= (n.*1898G=) n.2090G= n.774G= c.*639G= (n.*639G=) c.4383G= (p.Leu1461=) n.9563G= n.3028G= c.5223G= (p.Leu1741=) c.5307G= (p.Leu1769=) c.5355G= (p.Leu1785=) c.4329G= (p.Leu1443=) c.3910G= c.3471G= (p.Leu1157=) c.*1288G= (n.*1288G=) c.4624G= c.5397G= (p.Leu1799=) c.5394G= (p.Leu1798=) c.5349G= (p.Leu1783=) c.4473G= (p.Leu1491=) c.4242G= (p.Leu1414=) | |
10 | g.94298566G>T | CA470986579 | PLCE1 | c.4431G>T (p.Leu1477=) c.*1898G>T (n.*1898G>T) n.2090G>T n.774G>T c.*639G>T (n.*639G>T) c.4383G>T (p.Leu1461=) n.9563G>T n.3028G>T c.5223G>T (p.Leu1741=) c.5307G>T (p.Leu1769=) c.5355G>T (p.Leu1785=) c.4329G>T (p.Leu1443=) c.3910G>T c.3471G>T (p.Leu1157=) c.*1288G>T (n.*1288G>T) c.4624G>T c.5397G>T (p.Leu1799=) c.5394G>T (p.Leu1798=) c.5349G>T (p.Leu1783=) c.4473G>T (p.Leu1491=) c.4242G>T (p.Leu1414=) | |
10 | g.94298567A>C | CA470986580 | PLCE1 | c.4432A>C (p.Arg1478=) c.*1899A>C (n.*1899A>C) n.2091A>C n.775A>C c.*640A>C (n.*640A>C) c.4384A>C (p.Arg1462=) n.9564A>C n.3029A>C c.5224A>C (p.Arg1742=) c.5308A>C (p.Arg1770=) c.5356A>C (p.Arg1786=) c.4330A>C (p.Arg1444=) c.3911A>C c.3472A>C (p.Arg1158=) c.*1289A>C (n.*1289A>C) c.4625A>C c.5398A>C (p.Arg1800=) c.5395A>C (p.Arg1799=) c.5350A>C (p.Arg1784=) c.4474A>C (p.Arg1492=) c.4243A>C (p.Arg1415=) | |
10 | g.94298567A>G | CA377642050 | PLCE1 | c.4432A>G (p.Arg1478Gly) c.*1899A>G (n.*1899A>G) n.2091A>G n.775A>G c.*640A>G (n.*640A>G) c.4384A>G (p.Arg1462Gly) n.9564A>G n.3029A>G c.5224A>G (p.Arg1742Gly) c.5308A>G (p.Arg1770Gly) c.5356A>G (p.Arg1786Gly) c.4330A>G (p.Arg1444Gly) c.3911A>G c.3472A>G (p.Arg1158Gly) c.*1289A>G (n.*1289A>G) c.4625A>G c.5398A>G (p.Arg1800Gly) c.5395A>G (p.Arg1799Gly) c.5350A>G (p.Arg1784Gly) c.4474A>G (p.Arg1492Gly) c.4243A>G (p.Arg1415Gly) | |
10 | g.94298567A>T | CA377642051 | PLCE1 | c.4432A>T (p.Arg1478Ter) c.*1899A>T (n.*1899A>T) n.2091A>T n.775A>T c.*640A>T (n.*640A>T) c.4384A>T (p.Arg1462Ter) n.9564A>T n.3029A>T c.5224A>T (p.Arg1742Ter) c.5308A>T (p.Arg1770Ter) c.5356A>T (p.Arg1786Ter) c.4330A>T (p.Arg1444Ter) c.3911A>T c.3472A>T (p.Arg1158Ter) c.*1289A>T (n.*1289A>T) c.4625A>T c.5398A>T (p.Arg1800Ter) c.5395A>T (p.Arg1799Ter) c.5350A>T (p.Arg1784Ter) c.4474A>T (p.Arg1492Ter) c.4243A>T (p.Arg1415Ter) | |
10 | g.94298568G>A | CA377642052 | PLCE1 | c.4433G>A (p.Arg1478Lys) c.*1900G>A (n.*1900G>A) n.2092G>A n.776G>A c.*641G>A (n.*641G>A) c.4385G>A (p.Arg1462Lys) n.9565G>A n.3030G>A c.5225G>A (p.Arg1742Lys) c.5309G>A (p.Arg1770Lys) c.5357G>A (p.Arg1786Lys) c.4331G>A (p.Arg1444Lys) c.3912G>A c.3473G>A (p.Arg1158Lys) c.*1290G>A (n.*1290G>A) c.4626G>A c.5399G>A (p.Arg1800Lys) c.5396G>A (p.Arg1799Lys) c.5351G>A (p.Arg1784Lys) c.4475G>A (p.Arg1492Lys) c.4244G>A (p.Arg1415Lys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298568G>C | CA377642053 | PLCE1 | c.4433G>C (p.Arg1478Thr) c.*1900G>C (n.*1900G>C) n.2092G>C n.776G>C c.*641G>C (n.*641G>C) c.4385G>C (p.Arg1462Thr) n.9565G>C n.3030G>C c.5225G>C (p.Arg1742Thr) c.5309G>C (p.Arg1770Thr) c.5357G>C (p.Arg1786Thr) c.4331G>C (p.Arg1444Thr) c.3912G>C c.3473G>C (p.Arg1158Thr) c.*1290G>C (n.*1290G>C) c.4626G>C c.5399G>C (p.Arg1800Thr) c.5396G>C (p.Arg1799Thr) c.5351G>C (p.Arg1784Thr) c.4475G>C (p.Arg1492Thr) c.4244G>C (p.Arg1415Thr) | |
10 | g.94298568G= | CA1928998441 | PLCE1 | c.4433G= (p.Arg1478=) c.*1900G= (n.*1900G=) n.2092G= n.776G= c.*641G= (n.*641G=) c.4385G= (p.Arg1462=) n.9565G= n.3030G= c.5225G= (p.Arg1742=) c.5309G= (p.Arg1770=) c.5357G= (p.Arg1786=) c.4331G= (p.Arg1444=) c.3912G= c.3473G= (p.Arg1158=) c.*1290G= (n.*1290G=) c.4626G= c.5399G= (p.Arg1800=) c.5396G= (p.Arg1799=) c.5351G= (p.Arg1784=) c.4475G= (p.Arg1492=) c.4244G= (p.Arg1415=) | |
10 | g.94298568G>T | CA377642054 | PLCE1 | c.4433G>T (p.Arg1478Ile) c.*1900G>T (n.*1900G>T) n.2092G>T n.776G>T c.*641G>T (n.*641G>T) c.4385G>T (p.Arg1462Ile) n.9565G>T n.3030G>T c.5225G>T (p.Arg1742Ile) c.5309G>T (p.Arg1770Ile) c.5357G>T (p.Arg1786Ile) c.4331G>T (p.Arg1444Ile) c.3912G>T c.3473G>T (p.Arg1158Ile) c.*1290G>T (n.*1290G>T) c.4626G>T c.5399G>T (p.Arg1800Ile) c.5396G>T (p.Arg1799Ile) c.5351G>T (p.Arg1784Ile) c.4475G>T (p.Arg1492Ile) c.4244G>T (p.Arg1415Ile) | |
10 | g.94298569A= | CA1928998442 | PLCE1 | c.4434A= (p.Arg1478=) c.*1901A= (n.*1901A=) n.2093A= n.777A= c.*642A= (n.*642A=) c.4386A= (p.Arg1462=) n.9566A= n.3031A= c.5226A= (p.Arg1742=) c.5310A= (p.Arg1770=) c.5358A= (p.Arg1786=) c.4332A= (p.Arg1444=) c.3913A= c.3474A= (p.Arg1158=) c.*1291A= (n.*1291A=) c.4627A= c.5400A= (p.Arg1800=) c.5397A= (p.Arg1799=) c.5352A= (p.Arg1784=) c.4476A= (p.Arg1492=) c.4245A= (p.Arg1415=) | |
10 | g.94298569A>C | CA377642055 | PLCE1 | c.4434A>C (p.Arg1478Ser) c.*1901A>C (n.*1901A>C) n.2093A>C n.777A>C c.*642A>C (n.*642A>C) c.4386A>C (p.Arg1462Ser) n.9566A>C n.3031A>C c.5226A>C (p.Arg1742Ser) c.5310A>C (p.Arg1770Ser) c.5358A>C (p.Arg1786Ser) c.4332A>C (p.Arg1444Ser) c.3913A>C c.3474A>C (p.Arg1158Ser) c.*1291A>C (n.*1291A>C) c.4627A>C c.5400A>C (p.Arg1800Ser) c.5397A>C (p.Arg1799Ser) c.5352A>C (p.Arg1784Ser) c.4476A>C (p.Arg1492Ser) c.4245A>C (p.Arg1415Ser) | |
10 | g.94298569A>G | CA5613345 | PLCE1 | c.4434A>G (p.Arg1478=) c.*1901A>G (n.*1901A>G) n.2093A>G n.777A>G c.*642A>G (n.*642A>G) c.4386A>G (p.Arg1462=) n.9566A>G n.3031A>G c.5226A>G (p.Arg1742=) c.5310A>G (p.Arg1770=) c.5358A>G (p.Arg1786=) c.4332A>G (p.Arg1444=) c.3913A>G c.3474A>G (p.Arg1158=) c.*1291A>G (n.*1291A>G) c.4627A>G c.5400A>G (p.Arg1800=) c.5397A>G (p.Arg1799=) c.5352A>G (p.Arg1784=) c.4476A>G (p.Arg1492=) c.4245A>G (p.Arg1415=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298569A>T | CA5613344 | PLCE1 | c.4434A>T (p.Arg1478Ser) c.*1901A>T (n.*1901A>T) n.2093A>T n.777A>T c.*642A>T (n.*642A>T) c.4386A>T (p.Arg1462Ser) n.9566A>T n.3031A>T c.5226A>T (p.Arg1742Ser) c.5310A>T (p.Arg1770Ser) c.5358A>T (p.Arg1786Ser) c.4332A>T (p.Arg1444Ser) c.3913A>T c.3474A>T (p.Arg1158Ser) c.*1291A>T (n.*1291A>T) c.4627A>T c.5400A>T (p.Arg1800Ser) c.5397A>T (p.Arg1799Ser) c.5352A>T (p.Arg1784Ser) c.4476A>T (p.Arg1492Ser) c.4245A>T (p.Arg1415Ser) | dbSNP ExAC |
10 | g.94298570A>C | CA377642056 | PLCE1 | c.4435A>C (p.Thr1479Pro) c.*1902A>C (n.*1902A>C) n.2094A>C n.778A>C c.*643A>C (n.*643A>C) c.4387A>C (p.Thr1463Pro) n.9567A>C n.3032A>C c.5227A>C (p.Thr1743Pro) c.5311A>C (p.Thr1771Pro) c.5359A>C (p.Thr1787Pro) c.4333A>C (p.Thr1445Pro) c.3914A>C c.3475A>C (p.Thr1159Pro) c.*1292A>C (n.*1292A>C) c.4628A>C c.5401A>C (p.Thr1801Pro) c.5398A>C (p.Thr1800Pro) c.5353A>C (p.Thr1785Pro) c.4477A>C (p.Thr1493Pro) c.4246A>C (p.Thr1416Pro) | gnomAD v4 |
10 | g.94298570A>G | CA377642058 | PLCE1 | c.4435A>G (p.Thr1479Ala) c.*1902A>G (n.*1902A>G) n.2094A>G n.778A>G c.*643A>G (n.*643A>G) c.4387A>G (p.Thr1463Ala) n.9567A>G n.3032A>G c.5227A>G (p.Thr1743Ala) c.5311A>G (p.Thr1771Ala) c.5359A>G (p.Thr1787Ala) c.4333A>G (p.Thr1445Ala) c.3914A>G c.3475A>G (p.Thr1159Ala) c.*1292A>G (n.*1292A>G) c.4628A>G c.5401A>G (p.Thr1801Ala) c.5398A>G (p.Thr1800Ala) c.5353A>G (p.Thr1785Ala) c.4477A>G (p.Thr1493Ala) c.4246A>G (p.Thr1416Ala) | |
10 | g.94298570A>T | CA377642057 | PLCE1 | c.4435A>T (p.Thr1479Ser) c.*1902A>T (n.*1902A>T) n.2094A>T n.778A>T c.*643A>T (n.*643A>T) c.4387A>T (p.Thr1463Ser) n.9567A>T n.3032A>T c.5227A>T (p.Thr1743Ser) c.5311A>T (p.Thr1771Ser) c.5359A>T (p.Thr1787Ser) c.4333A>T (p.Thr1445Ser) c.3914A>T c.3475A>T (p.Thr1159Ser) c.*1292A>T (n.*1292A>T) c.4628A>T c.5401A>T (p.Thr1801Ser) c.5398A>T (p.Thr1800Ser) c.5353A>T (p.Thr1785Ser) c.4477A>T (p.Thr1493Ser) c.4246A>T (p.Thr1416Ser) | |
10 | g.94298571C>A | CA377642059 | PLCE1 | c.4436C>A (p.Thr1479Asn) c.*1903C>A (n.*1903C>A) n.2095C>A n.779C>A c.*644C>A (n.*644C>A) c.4388C>A (p.Thr1463Asn) n.9568C>A n.3033C>A c.5228C>A (p.Thr1743Asn) c.5312C>A (p.Thr1771Asn) c.5360C>A (p.Thr1787Asn) c.4334C>A (p.Thr1445Asn) c.3915C>A c.3476C>A (p.Thr1159Asn) c.*1293C>A (n.*1293C>A) c.4629C>A c.5402C>A (p.Thr1801Asn) c.5399C>A (p.Thr1800Asn) c.5354C>A (p.Thr1785Asn) c.4478C>A (p.Thr1493Asn) c.4247C>A (p.Thr1416Asn) | |
10 | g.94298571C>G | CA377642061 | PLCE1 | c.4436C>G (p.Thr1479Ser) c.*1903C>G (n.*1903C>G) n.2095C>G n.779C>G c.*644C>G (n.*644C>G) c.4388C>G (p.Thr1463Ser) n.9568C>G n.3033C>G c.5228C>G (p.Thr1743Ser) c.5312C>G (p.Thr1771Ser) c.5360C>G (p.Thr1787Ser) c.4334C>G (p.Thr1445Ser) c.3915C>G c.3476C>G (p.Thr1159Ser) c.*1293C>G (n.*1293C>G) c.4629C>G c.5402C>G (p.Thr1801Ser) c.5399C>G (p.Thr1800Ser) c.5354C>G (p.Thr1785Ser) c.4478C>G (p.Thr1493Ser) c.4247C>G (p.Thr1416Ser) | |
10 | g.94298571C>T | CA377642060 | PLCE1 | c.4436C>T (p.Thr1479Ile) c.*1903C>T (n.*1903C>T) n.2095C>T n.779C>T c.*644C>T (n.*644C>T) c.4388C>T (p.Thr1463Ile) n.9568C>T n.3033C>T c.5228C>T (p.Thr1743Ile) c.5312C>T (p.Thr1771Ile) c.5360C>T (p.Thr1787Ile) c.4334C>T (p.Thr1445Ile) c.3915C>T c.3476C>T (p.Thr1159Ile) c.*1293C>T (n.*1293C>T) c.4629C>T c.5402C>T (p.Thr1801Ile) c.5399C>T (p.Thr1800Ile) c.5354C>T (p.Thr1785Ile) c.4478C>T (p.Thr1493Ile) c.4247C>T (p.Thr1416Ile) | |
10 | g.94298572T>A | CA470986582 | PLCE1 | c.4437T>A (p.Thr1479=) c.*1904T>A (n.*1904T>A) n.2096T>A n.780T>A c.*645T>A (n.*645T>A) c.4389T>A (p.Thr1463=) n.9569T>A n.3034T>A c.5229T>A (p.Thr1743=) c.5313T>A (p.Thr1771=) c.5361T>A (p.Thr1787=) c.4335T>A (p.Thr1445=) c.3916T>A c.3477T>A (p.Thr1159=) c.*1294T>A (n.*1294T>A) c.4630T>A c.5403T>A (p.Thr1801=) c.5400T>A (p.Thr1800=) c.5355T>A (p.Thr1785=) c.4479T>A (p.Thr1493=) c.4248T>A (p.Thr1416=) | |
10 | g.94298572T>C | CA470986583 | PLCE1 | c.4437T>C (p.Thr1479=) c.*1904T>C (n.*1904T>C) n.2096T>C n.780T>C c.*645T>C (n.*645T>C) c.4389T>C (p.Thr1463=) n.9569T>C n.3034T>C c.5229T>C (p.Thr1743=) c.5313T>C (p.Thr1771=) c.5361T>C (p.Thr1787=) c.4335T>C (p.Thr1445=) c.3916T>C c.3477T>C (p.Thr1159=) c.*1294T>C (n.*1294T>C) c.4630T>C c.5403T>C (p.Thr1801=) c.5400T>C (p.Thr1800=) c.5355T>C (p.Thr1785=) c.4479T>C (p.Thr1493=) c.4248T>C (p.Thr1416=) | dbSNP |
10 | g.94298572T>G | CA470986584 | PLCE1 | c.4437T>G (p.Thr1479=) c.*1904T>G (n.*1904T>G) n.2096T>G n.780T>G c.*645T>G (n.*645T>G) c.4389T>G (p.Thr1463=) n.9569T>G n.3034T>G c.5229T>G (p.Thr1743=) c.5313T>G (p.Thr1771=) c.5361T>G (p.Thr1787=) c.4335T>G (p.Thr1445=) c.3916T>G c.3477T>G (p.Thr1159=) c.*1294T>G (n.*1294T>G) c.4630T>G c.5403T>G (p.Thr1801=) c.5400T>G (p.Thr1800=) c.5355T>G (p.Thr1785=) c.4479T>G (p.Thr1493=) c.4248T>G (p.Thr1416=) | |
10 | g.94298572T= | CA1928998443 | PLCE1 | c.4437T= (p.Thr1479=) c.*1904T= (n.*1904T=) n.2096T= n.780T= c.*645T= (n.*645T=) c.4389T= (p.Thr1463=) n.9569T= n.3034T= c.5229T= (p.Thr1743=) c.5313T= (p.Thr1771=) c.5361T= (p.Thr1787=) c.4335T= (p.Thr1445=) c.3916T= c.3477T= (p.Thr1159=) c.*1294T= (n.*1294T=) c.4630T= c.5403T= (p.Thr1801=) c.5400T= (p.Thr1800=) c.5355T= (p.Thr1785=) c.4479T= (p.Thr1493=) c.4248T= (p.Thr1416=) | |
10 | g.94298573T>A | CA377642062 | PLCE1 | c.4438T>A (p.Tyr1480Asn) c.*1905T>A (n.*1905T>A) n.2097T>A n.781T>A c.*646T>A (n.*646T>A) c.4390T>A (p.Tyr1464Asn) n.9570T>A n.3035T>A c.5230T>A (p.Tyr1744Asn) c.5314T>A (p.Tyr1772Asn) c.5362T>A (p.Tyr1788Asn) c.4336T>A (p.Tyr1446Asn) c.3917T>A c.3478T>A (p.Tyr1160Asn) c.*1295T>A (n.*1295T>A) c.4631T>A c.5404T>A (p.Tyr1802Asn) c.5401T>A (p.Tyr1801Asn) c.5356T>A (p.Tyr1786Asn) c.4480T>A (p.Tyr1494Asn) c.4249T>A (p.Tyr1417Asn) | |
10 | g.94298573T>C | CA377642064 | PLCE1 | c.4438T>C (p.Tyr1480His) c.*1905T>C (n.*1905T>C) n.2097T>C n.781T>C c.*646T>C (n.*646T>C) c.4390T>C (p.Tyr1464His) n.9570T>C n.3035T>C c.5230T>C (p.Tyr1744His) c.5314T>C (p.Tyr1772His) c.5362T>C (p.Tyr1788His) c.4336T>C (p.Tyr1446His) c.3917T>C c.3478T>C (p.Tyr1160His) c.*1295T>C (n.*1295T>C) c.4631T>C c.5404T>C (p.Tyr1802His) c.5401T>C (p.Tyr1801His) c.5356T>C (p.Tyr1786His) c.4480T>C (p.Tyr1494His) c.4249T>C (p.Tyr1417His) | |
10 | g.94298573T>G | CA377642063 | PLCE1 | c.4438T>G (p.Tyr1480Asp) c.*1905T>G (n.*1905T>G) n.2097T>G n.781T>G c.*646T>G (n.*646T>G) c.4390T>G (p.Tyr1464Asp) n.9570T>G n.3035T>G c.5230T>G (p.Tyr1744Asp) c.5314T>G (p.Tyr1772Asp) c.5362T>G (p.Tyr1788Asp) c.4336T>G (p.Tyr1446Asp) c.3917T>G c.3478T>G (p.Tyr1160Asp) c.*1295T>G (n.*1295T>G) c.4631T>G c.5404T>G (p.Tyr1802Asp) c.5401T>G (p.Tyr1801Asp) c.5356T>G (p.Tyr1786Asp) c.4480T>G (p.Tyr1494Asp) c.4249T>G (p.Tyr1417Asp) | |
10 | g.94298574A>C | CA377642065 | PLCE1 | c.4439A>C (p.Tyr1480Ser) c.*1906A>C (n.*1906A>C) n.2098A>C n.782A>C c.*647A>C (n.*647A>C) c.4391A>C (p.Tyr1464Ser) n.9571A>C n.3036A>C c.5231A>C (p.Tyr1744Ser) c.5315A>C (p.Tyr1772Ser) c.5363A>C (p.Tyr1788Ser) c.4337A>C (p.Tyr1446Ser) c.3918A>C c.3479A>C (p.Tyr1160Ser) c.*1296A>C (n.*1296A>C) c.4632A>C c.5405A>C (p.Tyr1802Ser) c.5402A>C (p.Tyr1801Ser) c.5357A>C (p.Tyr1786Ser) c.4481A>C (p.Tyr1494Ser) c.4250A>C (p.Tyr1417Ser) | |
10 | g.94298574A>G | CA377642067 | PLCE1 | c.4439A>G (p.Tyr1480Cys) c.*1906A>G (n.*1906A>G) n.2098A>G n.782A>G c.*647A>G (n.*647A>G) c.4391A>G (p.Tyr1464Cys) n.9571A>G n.3036A>G c.5231A>G (p.Tyr1744Cys) c.5315A>G (p.Tyr1772Cys) c.5363A>G (p.Tyr1788Cys) c.4337A>G (p.Tyr1446Cys) c.3918A>G c.3479A>G (p.Tyr1160Cys) c.*1296A>G (n.*1296A>G) c.4632A>G c.5405A>G (p.Tyr1802Cys) c.5402A>G (p.Tyr1801Cys) c.5357A>G (p.Tyr1786Cys) c.4481A>G (p.Tyr1494Cys) c.4250A>G (p.Tyr1417Cys) | |
10 | g.94298574A>T | CA377642066 | PLCE1 | c.4439A>T (p.Tyr1480Phe) c.*1906A>T (n.*1906A>T) n.2098A>T n.782A>T c.*647A>T (n.*647A>T) c.4391A>T (p.Tyr1464Phe) n.9571A>T n.3036A>T c.5231A>T (p.Tyr1744Phe) c.5315A>T (p.Tyr1772Phe) c.5363A>T (p.Tyr1788Phe) c.4337A>T (p.Tyr1446Phe) c.3918A>T c.3479A>T (p.Tyr1160Phe) c.*1296A>T (n.*1296A>T) c.4632A>T c.5405A>T (p.Tyr1802Phe) c.5402A>T (p.Tyr1801Phe) c.5357A>T (p.Tyr1786Phe) c.4481A>T (p.Tyr1494Phe) c.4250A>T (p.Tyr1417Phe) | |
10 | g.94298574dup | CA2573145877 | PLCE1 | c.4439dup (p.Tyr1480Ter) c.*1906dup (n.*1906dup) n.2098dup n.782dup c.*647dup (n.*647dup) c.4391dup (p.Tyr1464Ter) n.9571dup n.3036dup c.5231dup (p.Tyr1744Ter) c.5315dup (p.Tyr1772Ter) c.5363dup (p.Tyr1788Ter) c.4337dup (p.Tyr1446Ter) c.3918dup c.3479dup (p.Tyr1160Ter) c.*1296dup (n.*1296dup) c.4632dup c.5405dup (p.Tyr1802Ter) c.5402dup (p.Tyr1801Ter) c.5357dup (p.Tyr1786Ter) c.4481dup (p.Tyr1494Ter) c.4250dup (p.Tyr1417Ter) | ClinVar dbSNP |
10 | g.94298575C>A | CA377642068 | PLCE1 | c.4440C>A (p.Tyr1480Ter) c.*1907C>A (n.*1907C>A) n.2099C>A n.783C>A c.*648C>A (n.*648C>A) c.4392C>A (p.Tyr1464Ter) n.9572C>A n.3037C>A c.5232C>A (p.Tyr1744Ter) c.5316C>A (p.Tyr1772Ter) c.5364C>A (p.Tyr1788Ter) c.4338C>A (p.Tyr1446Ter) c.3919C>A c.3480C>A (p.Tyr1160Ter) c.*1297C>A (n.*1297C>A) c.4633C>A c.5406C>A (p.Tyr1802Ter) c.5403C>A (p.Tyr1801Ter) c.5358C>A (p.Tyr1786Ter) c.4482C>A (p.Tyr1494Ter) c.4251C>A (p.Tyr1417Ter) | gnomAD v4 |
10 | g.94298575C= | CA1928998444 | PLCE1 | c.4440C= (p.Tyr1480=) c.*1907C= (n.*1907C=) n.2099C= n.783C= c.*648C= (n.*648C=) c.4392C= (p.Tyr1464=) n.9572C= n.3037C= c.5232C= (p.Tyr1744=) c.5316C= (p.Tyr1772=) c.5364C= (p.Tyr1788=) c.4338C= (p.Tyr1446=) c.3919C= c.3480C= (p.Tyr1160=) c.*1297C= (n.*1297C=) c.4633C= c.5406C= (p.Tyr1802=) c.5403C= (p.Tyr1801=) c.5358C= (p.Tyr1786=) c.4482C= (p.Tyr1494=) c.4251C= (p.Tyr1417=) | |
10 | g.94298575C>G | CA377642069 | PLCE1 | c.4440C>G (p.Tyr1480Ter) c.*1907C>G (n.*1907C>G) n.2099C>G n.783C>G c.*648C>G (n.*648C>G) c.4392C>G (p.Tyr1464Ter) n.9572C>G n.3037C>G c.5232C>G (p.Tyr1744Ter) c.5316C>G (p.Tyr1772Ter) c.5364C>G (p.Tyr1788Ter) c.4338C>G (p.Tyr1446Ter) c.3919C>G c.3480C>G (p.Tyr1160Ter) c.*1297C>G (n.*1297C>G) c.4633C>G c.5406C>G (p.Tyr1802Ter) c.5403C>G (p.Tyr1801Ter) c.5358C>G (p.Tyr1786Ter) c.4482C>G (p.Tyr1494Ter) c.4251C>G (p.Tyr1417Ter) | |
10 | g.94298575C>T | CA5613346 | PLCE1 | c.4440C>T (p.Tyr1480=) c.*1907C>T (n.*1907C>T) n.2099C>T n.783C>T c.*648C>T (n.*648C>T) c.4392C>T (p.Tyr1464=) n.9572C>T n.3037C>T c.5232C>T (p.Tyr1744=) c.5316C>T (p.Tyr1772=) c.5364C>T (p.Tyr1788=) c.4338C>T (p.Tyr1446=) c.3919C>T c.3480C>T (p.Tyr1160=) c.*1297C>T (n.*1297C>T) c.4633C>T c.5406C>T (p.Tyr1802=) c.5403C>T (p.Tyr1801=) c.5358C>T (p.Tyr1786=) c.4482C>T (p.Tyr1494=) c.4251C>T (p.Tyr1417=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298576C>A | CA377642070 | PLCE1 | c.4441C>A (p.Pro1481Thr) c.*1908C>A (n.*1908C>A) n.2100C>A n.784C>A c.*649C>A (n.*649C>A) c.4393C>A (p.Pro1465Thr) n.9573C>A n.3038C>A c.5233C>A (p.Pro1745Thr) c.5317C>A (p.Pro1773Thr) c.5365C>A (p.Pro1789Thr) c.4339C>A (p.Pro1447Thr) c.3920C>A c.3481C>A (p.Pro1161Thr) c.*1298C>A (n.*1298C>A) c.4634C>A c.5407C>A (p.Pro1803Thr) c.5404C>A (p.Pro1802Thr) c.5359C>A (p.Pro1787Thr) c.4483C>A (p.Pro1495Thr) c.4252C>A (p.Pro1418Thr) | |
10 | g.94298576C= | CA1928998445 | PLCE1 | c.4441C= (p.Pro1481=) c.*1908C= (n.*1908C=) n.2100C= n.784C= c.*649C= (n.*649C=) c.4393C= (p.Pro1465=) n.9573C= n.3038C= c.5233C= (p.Pro1745=) c.5317C= (p.Pro1773=) c.5365C= (p.Pro1789=) c.4339C= (p.Pro1447=) c.3920C= c.3481C= (p.Pro1161=) c.*1298C= (n.*1298C=) c.4634C= c.5407C= (p.Pro1803=) c.5404C= (p.Pro1802=) c.5359C= (p.Pro1787=) c.4483C= (p.Pro1495=) c.4252C= (p.Pro1418=) | |
10 | g.94298576C>G | CA377642071 | PLCE1 | c.4441C>G (p.Pro1481Ala) c.*1908C>G (n.*1908C>G) n.2100C>G n.784C>G c.*649C>G (n.*649C>G) c.4393C>G (p.Pro1465Ala) n.9573C>G n.3038C>G c.5233C>G (p.Pro1745Ala) c.5317C>G (p.Pro1773Ala) c.5365C>G (p.Pro1789Ala) c.4339C>G (p.Pro1447Ala) c.3920C>G c.3481C>G (p.Pro1161Ala) c.*1298C>G (n.*1298C>G) c.4634C>G c.5407C>G (p.Pro1803Ala) c.5404C>G (p.Pro1802Ala) c.5359C>G (p.Pro1787Ala) c.4483C>G (p.Pro1495Ala) c.4252C>G (p.Pro1418Ala) | gnomAD v4 |
10 | g.94298576C>T | CA5613347 | PLCE1 | c.4441C>T (p.Pro1481Ser) c.*1908C>T (n.*1908C>T) n.2100C>T n.784C>T c.*649C>T (n.*649C>T) c.4393C>T (p.Pro1465Ser) n.9573C>T n.3038C>T c.5233C>T (p.Pro1745Ser) c.5317C>T (p.Pro1773Ser) c.5365C>T (p.Pro1789Ser) c.4339C>T (p.Pro1447Ser) c.3920C>T c.3481C>T (p.Pro1161Ser) c.*1298C>T (n.*1298C>T) c.4634C>T c.5407C>T (p.Pro1803Ser) c.5404C>T (p.Pro1802Ser) c.5359C>T (p.Pro1787Ser) c.4483C>T (p.Pro1495Ser) c.4252C>T (p.Pro1418Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298577C>A | CA377642072 | PLCE1 | c.4442C>A (p.Pro1481His) c.*1909C>A (n.*1909C>A) n.2101C>A n.785C>A c.*650C>A (n.*650C>A) c.4394C>A (p.Pro1465His) n.9574C>A n.3039C>A c.5234C>A (p.Pro1745His) c.5318C>A (p.Pro1773His) c.5366C>A (p.Pro1789His) c.4340C>A (p.Pro1447His) c.3921C>A c.3482C>A (p.Pro1161His) c.*1299C>A (n.*1299C>A) c.4635C>A c.5408C>A (p.Pro1803His) c.5405C>A (p.Pro1802His) c.5360C>A (p.Pro1787His) c.4484C>A (p.Pro1495His) c.4253C>A (p.Pro1418His) | |
10 | g.94298577C>G | CA377642073 | PLCE1 | c.4442C>G (p.Pro1481Arg) c.*1909C>G (n.*1909C>G) n.2101C>G n.785C>G c.*650C>G (n.*650C>G) c.4394C>G (p.Pro1465Arg) n.9574C>G n.3039C>G c.5234C>G (p.Pro1745Arg) c.5318C>G (p.Pro1773Arg) c.5366C>G (p.Pro1789Arg) c.4340C>G (p.Pro1447Arg) c.3921C>G c.3482C>G (p.Pro1161Arg) c.*1299C>G (n.*1299C>G) c.4635C>G c.5408C>G (p.Pro1803Arg) c.5405C>G (p.Pro1802Arg) c.5360C>G (p.Pro1787Arg) c.4484C>G (p.Pro1495Arg) c.4253C>G (p.Pro1418Arg) | |
10 | g.94298577C>T | CA377642074 | PLCE1 | c.4442C>T (p.Pro1481Leu) c.*1909C>T (n.*1909C>T) n.2101C>T n.785C>T c.*650C>T (n.*650C>T) c.4394C>T (p.Pro1465Leu) n.9574C>T n.3039C>T c.5234C>T (p.Pro1745Leu) c.5318C>T (p.Pro1773Leu) c.5366C>T (p.Pro1789Leu) c.4340C>T (p.Pro1447Leu) c.3921C>T c.3482C>T (p.Pro1161Leu) c.*1299C>T (n.*1299C>T) c.4635C>T c.5408C>T (p.Pro1803Leu) c.5405C>T (p.Pro1802Leu) c.5360C>T (p.Pro1787Leu) c.4484C>T (p.Pro1495Leu) c.4253C>T (p.Pro1418Leu) | |
10 | g.94298578T>A | CA470986586 | PLCE1 | c.4443T>A (p.Pro1481=) c.*1910T>A (n.*1910T>A) n.2102T>A n.786T>A c.*651T>A (n.*651T>A) c.4395T>A (p.Pro1465=) n.9575T>A n.3040T>A c.5235T>A (p.Pro1745=) c.5319T>A (p.Pro1773=) c.5367T>A (p.Pro1789=) c.4341T>A (p.Pro1447=) c.3922T>A c.3483T>A (p.Pro1161=) c.*1300T>A (n.*1300T>A) c.4636T>A c.5409T>A (p.Pro1803=) c.5406T>A (p.Pro1802=) c.5361T>A (p.Pro1787=) c.4485T>A (p.Pro1495=) c.4254T>A (p.Pro1418=) | |
10 | g.94298578T>C | CA470986587 | PLCE1 | c.4443T>C (p.Pro1481=) c.*1910T>C (n.*1910T>C) n.2102T>C n.786T>C c.*651T>C (n.*651T>C) c.4395T>C (p.Pro1465=) n.9575T>C n.3040T>C c.5235T>C (p.Pro1745=) c.5319T>C (p.Pro1773=) c.5367T>C (p.Pro1789=) c.4341T>C (p.Pro1447=) c.3922T>C c.3483T>C (p.Pro1161=) c.*1300T>C (n.*1300T>C) c.4636T>C c.5409T>C (p.Pro1803=) c.5406T>C (p.Pro1802=) c.5361T>C (p.Pro1787=) c.4485T>C (p.Pro1495=) c.4254T>C (p.Pro1418=) | |
10 | g.94298578T>G | CA470986588 | PLCE1 | c.4443T>G (p.Pro1481=) c.*1910T>G (n.*1910T>G) n.2102T>G n.786T>G c.*651T>G (n.*651T>G) c.4395T>G (p.Pro1465=) n.9575T>G n.3040T>G c.5235T>G (p.Pro1745=) c.5319T>G (p.Pro1773=) c.5367T>G (p.Pro1789=) c.4341T>G (p.Pro1447=) c.3922T>G c.3483T>G (p.Pro1161=) c.*1300T>G (n.*1300T>G) c.4636T>G c.5409T>G (p.Pro1803=) c.5406T>G (p.Pro1802=) c.5361T>G (p.Pro1787=) c.4485T>G (p.Pro1495=) c.4254T>G (p.Pro1418=) | |
10 | g.94298579G>A | CA377642075 | PLCE1 | c.4444G>A (p.Ala1482Thr) c.*1911G>A (n.*1911G>A) n.2103G>A n.787G>A c.*652G>A (n.*652G>A) c.4396G>A (p.Ala1466Thr) n.9576G>A n.3041G>A c.5236G>A (p.Ala1746Thr) c.5320G>A (p.Ala1774Thr) c.5368G>A (p.Ala1790Thr) c.4342G>A (p.Ala1448Thr) c.3923G>A c.3484G>A (p.Ala1162Thr) c.*1301G>A (n.*1301G>A) c.4637G>A c.5410G>A (p.Ala1804Thr) c.5407G>A (p.Ala1803Thr) c.5362G>A (p.Ala1788Thr) c.4486G>A (p.Ala1496Thr) c.4255G>A (p.Ala1419Thr) | |
10 | g.94298579G>C | CA377642076 | PLCE1 | c.4444G>C (p.Ala1482Pro) c.*1911G>C (n.*1911G>C) n.2103G>C n.787G>C c.*652G>C (n.*652G>C) c.4396G>C (p.Ala1466Pro) n.9576G>C n.3041G>C c.5236G>C (p.Ala1746Pro) c.5320G>C (p.Ala1774Pro) c.5368G>C (p.Ala1790Pro) c.4342G>C (p.Ala1448Pro) c.3923G>C c.3484G>C (p.Ala1162Pro) c.*1301G>C (n.*1301G>C) c.4637G>C c.5410G>C (p.Ala1804Pro) c.5407G>C (p.Ala1803Pro) c.5362G>C (p.Ala1788Pro) c.4486G>C (p.Ala1496Pro) c.4255G>C (p.Ala1419Pro) | |
10 | g.94298579G>T | CA377642077 | PLCE1 | c.4444G>T (p.Ala1482Ser) c.*1911G>T (n.*1911G>T) n.2103G>T n.787G>T c.*652G>T (n.*652G>T) c.4396G>T (p.Ala1466Ser) n.9576G>T n.3041G>T c.5236G>T (p.Ala1746Ser) c.5320G>T (p.Ala1774Ser) c.5368G>T (p.Ala1790Ser) c.4342G>T (p.Ala1448Ser) c.3923G>T c.3484G>T (p.Ala1162Ser) c.*1301G>T (n.*1301G>T) c.4637G>T c.5410G>T (p.Ala1804Ser) c.5407G>T (p.Ala1803Ser) c.5362G>T (p.Ala1788Ser) c.4486G>T (p.Ala1496Ser) c.4255G>T (p.Ala1419Ser) | |
10 | g.94298580C>A | CA377642078 | PLCE1 | c.4445C>A (p.Ala1482Asp) c.*1912C>A (n.*1912C>A) n.2104C>A n.788C>A c.*653C>A (n.*653C>A) c.4397C>A (p.Ala1466Asp) n.9577C>A n.3042C>A c.5237C>A (p.Ala1746Asp) c.5321C>A (p.Ala1774Asp) c.5369C>A (p.Ala1790Asp) c.4343C>A (p.Ala1448Asp) c.3924C>A c.3485C>A (p.Ala1162Asp) c.*1302C>A (n.*1302C>A) c.4638C>A c.5411C>A (p.Ala1804Asp) c.5408C>A (p.Ala1803Asp) c.5363C>A (p.Ala1788Asp) c.4487C>A (p.Ala1496Asp) c.4256C>A (p.Ala1419Asp) | |
10 | g.94298580C>G | CA377642079 | PLCE1 | c.4445C>G (p.Ala1482Gly) c.*1912C>G (n.*1912C>G) n.2104C>G n.788C>G c.*653C>G (n.*653C>G) c.4397C>G (p.Ala1466Gly) n.9577C>G n.3042C>G c.5237C>G (p.Ala1746Gly) c.5321C>G (p.Ala1774Gly) c.5369C>G (p.Ala1790Gly) c.4343C>G (p.Ala1448Gly) c.3924C>G c.3485C>G (p.Ala1162Gly) c.*1302C>G (n.*1302C>G) c.4638C>G c.5411C>G (p.Ala1804Gly) c.5408C>G (p.Ala1803Gly) c.5363C>G (p.Ala1788Gly) c.4487C>G (p.Ala1496Gly) c.4256C>G (p.Ala1419Gly) | |
10 | g.94298580C>T | CA377642080 | PLCE1 | c.4445C>T (p.Ala1482Val) c.*1912C>T (n.*1912C>T) n.2104C>T n.788C>T c.*653C>T (n.*653C>T) c.4397C>T (p.Ala1466Val) n.9577C>T n.3042C>T c.5237C>T (p.Ala1746Val) c.5321C>T (p.Ala1774Val) c.5369C>T (p.Ala1790Val) c.4343C>T (p.Ala1448Val) c.3924C>T c.3485C>T (p.Ala1162Val) c.*1302C>T (n.*1302C>T) c.4638C>T c.5411C>T (p.Ala1804Val) c.5408C>T (p.Ala1803Val) c.5363C>T (p.Ala1788Val) c.4487C>T (p.Ala1496Val) c.4256C>T (p.Ala1419Val) | |
10 | g.94298581T>A | CA470986589 | PLCE1 | c.4446T>A (p.Ala1482=) c.*1913T>A (n.*1913T>A) n.2105T>A n.789T>A c.*654T>A (n.*654T>A) c.4398T>A (p.Ala1466=) n.9578T>A n.3043T>A c.5238T>A (p.Ala1746=) c.5322T>A (p.Ala1774=) c.5370T>A (p.Ala1790=) c.4344T>A (p.Ala1448=) c.3925T>A c.3486T>A (p.Ala1162=) c.*1303T>A (n.*1303T>A) c.4639T>A c.5412T>A (p.Ala1804=) c.5409T>A (p.Ala1803=) c.5364T>A (p.Ala1788=) c.4488T>A (p.Ala1496=) c.4257T>A (p.Ala1419=) | |
10 | g.94298581T>C | CA470986591 | PLCE1 | c.4446T>C (p.Ala1482=) c.*1913T>C (n.*1913T>C) n.2105T>C n.789T>C c.*654T>C (n.*654T>C) c.4398T>C (p.Ala1466=) n.9578T>C n.3043T>C c.5238T>C (p.Ala1746=) c.5322T>C (p.Ala1774=) c.5370T>C (p.Ala1790=) c.4344T>C (p.Ala1448=) c.3925T>C c.3486T>C (p.Ala1162=) c.*1303T>C (n.*1303T>C) c.4639T>C c.5412T>C (p.Ala1804=) c.5409T>C (p.Ala1803=) c.5364T>C (p.Ala1788=) c.4488T>C (p.Ala1496=) c.4257T>C (p.Ala1419=) | gnomAD v4 |
10 | g.94298581T>G | CA470986592 | PLCE1 | c.4446T>G (p.Ala1482=) c.*1913T>G (n.*1913T>G) n.2105T>G n.789T>G c.*654T>G (n.*654T>G) c.4398T>G (p.Ala1466=) n.9578T>G n.3043T>G c.5238T>G (p.Ala1746=) c.5322T>G (p.Ala1774=) c.5370T>G (p.Ala1790=) c.4344T>G (p.Ala1448=) c.3925T>G c.3486T>G (p.Ala1162=) c.*1303T>G (n.*1303T>G) c.4639T>G c.5412T>G (p.Ala1804=) c.5409T>G (p.Ala1803=) c.5364T>G (p.Ala1788=) c.4488T>G (p.Ala1496=) c.4257T>G (p.Ala1419=) | |
10 | g.94298582G>A | CA377642083 | PLCE1 | c.4447G>A (p.Ala1483Thr) c.*1914G>A (n.*1914G>A) n.2106G>A n.790G>A c.*655G>A (n.*655G>A) c.4399G>A (p.Ala1467Thr) n.9579G>A n.3044G>A c.5239G>A (p.Ala1747Thr) c.5323G>A (p.Ala1775Thr) c.5371G>A (p.Ala1791Thr) c.4345G>A (p.Ala1449Thr) c.3926G>A c.3487G>A (p.Ala1163Thr) c.*1304G>A (n.*1304G>A) c.4640G>A c.5413G>A (p.Ala1805Thr) c.5410G>A (p.Ala1804Thr) c.5365G>A (p.Ala1789Thr) c.4489G>A (p.Ala1497Thr) c.4258G>A (p.Ala1420Thr) | |
10 | g.94298582G>C | CA377642081 | PLCE1 | c.4447G>C (p.Ala1483Pro) c.*1914G>C (n.*1914G>C) n.2106G>C n.790G>C c.*655G>C (n.*655G>C) c.4399G>C (p.Ala1467Pro) n.9579G>C n.3044G>C c.5239G>C (p.Ala1747Pro) c.5323G>C (p.Ala1775Pro) c.5371G>C (p.Ala1791Pro) c.4345G>C (p.Ala1449Pro) c.3926G>C c.3487G>C (p.Ala1163Pro) c.*1304G>C (n.*1304G>C) c.4640G>C c.5413G>C (p.Ala1805Pro) c.5410G>C (p.Ala1804Pro) c.5365G>C (p.Ala1789Pro) c.4489G>C (p.Ala1497Pro) c.4258G>C (p.Ala1420Pro) | |
10 | g.94298582G>T | CA377642082 | PLCE1 | c.4447G>T (p.Ala1483Ser) c.*1914G>T (n.*1914G>T) n.2106G>T n.790G>T c.*655G>T (n.*655G>T) c.4399G>T (p.Ala1467Ser) n.9579G>T n.3044G>T c.5239G>T (p.Ala1747Ser) c.5323G>T (p.Ala1775Ser) c.5371G>T (p.Ala1791Ser) c.4345G>T (p.Ala1449Ser) c.3926G>T c.3487G>T (p.Ala1163Ser) c.*1304G>T (n.*1304G>T) c.4640G>T c.5413G>T (p.Ala1805Ser) c.5410G>T (p.Ala1804Ser) c.5365G>T (p.Ala1789Ser) c.4489G>T (p.Ala1497Ser) c.4258G>T (p.Ala1420Ser) | |
10 | g.94298583C>A | CA377642084 | PLCE1 | c.4448C>A (p.Ala1483Asp) c.*1915C>A (n.*1915C>A) n.2107C>A n.791C>A c.*656C>A (n.*656C>A) c.4400C>A (p.Ala1467Asp) n.9580C>A n.3045C>A c.5240C>A (p.Ala1747Asp) c.5324C>A (p.Ala1775Asp) c.5372C>A (p.Ala1791Asp) c.4346C>A (p.Ala1449Asp) c.3927C>A c.3488C>A (p.Ala1163Asp) c.*1305C>A (n.*1305C>A) c.4641C>A c.5414C>A (p.Ala1805Asp) c.5411C>A (p.Ala1804Asp) c.5366C>A (p.Ala1789Asp) c.4490C>A (p.Ala1497Asp) c.4259C>A (p.Ala1420Asp) | |
10 | g.94298583C>G | CA377642085 | PLCE1 | c.4448C>G (p.Ala1483Gly) c.*1915C>G (n.*1915C>G) n.2107C>G n.791C>G c.*656C>G (n.*656C>G) c.4400C>G (p.Ala1467Gly) n.9580C>G n.3045C>G c.5240C>G (p.Ala1747Gly) c.5324C>G (p.Ala1775Gly) c.5372C>G (p.Ala1791Gly) c.4346C>G (p.Ala1449Gly) c.3927C>G c.3488C>G (p.Ala1163Gly) c.*1305C>G (n.*1305C>G) c.4641C>G c.5414C>G (p.Ala1805Gly) c.5411C>G (p.Ala1804Gly) c.5366C>G (p.Ala1789Gly) c.4490C>G (p.Ala1497Gly) c.4259C>G (p.Ala1420Gly) | |
10 | g.94298583C>T | CA377642086 | PLCE1 | c.4448C>T (p.Ala1483Val) c.*1915C>T (n.*1915C>T) n.2107C>T n.791C>T c.*656C>T (n.*656C>T) c.4400C>T (p.Ala1467Val) n.9580C>T n.3045C>T c.5240C>T (p.Ala1747Val) c.5324C>T (p.Ala1775Val) c.5372C>T (p.Ala1791Val) c.4346C>T (p.Ala1449Val) c.3927C>T c.3488C>T (p.Ala1163Val) c.*1305C>T (n.*1305C>T) c.4641C>T c.5414C>T (p.Ala1805Val) c.5411C>T (p.Ala1804Val) c.5366C>T (p.Ala1789Val) c.4490C>T (p.Ala1497Val) c.4259C>T (p.Ala1420Val) | |
10 | g.94298584C>A | CA470986594 | PLCE1 | c.4449C>A (p.Ala1483=) c.*1916C>A (n.*1916C>A) n.2108C>A n.792C>A c.*657C>A (n.*657C>A) c.4401C>A (p.Ala1467=) n.9581C>A n.3046C>A c.5241C>A (p.Ala1747=) c.5325C>A (p.Ala1775=) c.5373C>A (p.Ala1791=) c.4347C>A (p.Ala1449=) c.3928C>A c.3489C>A (p.Ala1163=) c.*1306C>A (n.*1306C>A) c.4642C>A c.5415C>A (p.Ala1805=) c.5412C>A (p.Ala1804=) c.5367C>A (p.Ala1789=) c.4491C>A (p.Ala1497=) c.4260C>A (p.Ala1420=) | |
10 | g.94298584C>G | CA470986595 | PLCE1 | c.4449C>G (p.Ala1483=) c.*1916C>G (n.*1916C>G) n.2108C>G n.792C>G c.*657C>G (n.*657C>G) c.4401C>G (p.Ala1467=) n.9581C>G n.3046C>G c.5241C>G (p.Ala1747=) c.5325C>G (p.Ala1775=) c.5373C>G (p.Ala1791=) c.4347C>G (p.Ala1449=) c.3928C>G c.3489C>G (p.Ala1163=) c.*1306C>G (n.*1306C>G) c.4642C>G c.5415C>G (p.Ala1805=) c.5412C>G (p.Ala1804=) c.5367C>G (p.Ala1789=) c.4491C>G (p.Ala1497=) c.4260C>G (p.Ala1420=) | |
10 | g.94298584C>T | CA470986597 | PLCE1 | c.4449C>T (p.Ala1483=) c.*1916C>T (n.*1916C>T) n.2108C>T n.792C>T c.*657C>T (n.*657C>T) c.4401C>T (p.Ala1467=) n.9581C>T n.3046C>T c.5241C>T (p.Ala1747=) c.5325C>T (p.Ala1775=) c.5373C>T (p.Ala1791=) c.4347C>T (p.Ala1449=) c.3928C>T c.3489C>T (p.Ala1163=) c.*1306C>T (n.*1306C>T) c.4642C>T c.5415C>T (p.Ala1805=) c.5412C>T (p.Ala1804=) c.5367C>T (p.Ala1789=) c.4491C>T (p.Ala1497=) c.4260C>T (p.Ala1420=) | |
10 | g.94298585A>C | CA377642087 | PLCE1 | c.4450A>C (p.Thr1484Pro) c.*1917A>C (n.*1917A>C) n.2109A>C n.793A>C c.*658A>C (n.*658A>C) c.4402A>C (p.Thr1468Pro) n.9582A>C n.3047A>C c.5242A>C (p.Thr1748Pro) c.5326A>C (p.Thr1776Pro) c.5374A>C (p.Thr1792Pro) c.4348A>C (p.Thr1450Pro) c.3929A>C c.3490A>C (p.Thr1164Pro) c.*1307A>C (n.*1307A>C) c.4643A>C c.5416A>C (p.Thr1806Pro) c.5413A>C (p.Thr1805Pro) c.5368A>C (p.Thr1790Pro) c.4492A>C (p.Thr1498Pro) c.4261A>C (p.Thr1421Pro) | |
10 | g.94298585A>G | CA377642088 | PLCE1 | c.4450A>G (p.Thr1484Ala) c.*1917A>G (n.*1917A>G) n.2109A>G n.793A>G c.*658A>G (n.*658A>G) c.4402A>G (p.Thr1468Ala) n.9582A>G n.3047A>G c.5242A>G (p.Thr1748Ala) c.5326A>G (p.Thr1776Ala) c.5374A>G (p.Thr1792Ala) c.4348A>G (p.Thr1450Ala) c.3929A>G c.3490A>G (p.Thr1164Ala) c.*1307A>G (n.*1307A>G) c.4643A>G c.5416A>G (p.Thr1806Ala) c.5413A>G (p.Thr1805Ala) c.5368A>G (p.Thr1790Ala) c.4492A>G (p.Thr1498Ala) c.4261A>G (p.Thr1421Ala) | |
10 | g.94298585A>T | CA377642089 | PLCE1 | c.4450A>T (p.Thr1484Ser) c.*1917A>T (n.*1917A>T) n.2109A>T n.793A>T c.*658A>T (n.*658A>T) c.4402A>T (p.Thr1468Ser) n.9582A>T n.3047A>T c.5242A>T (p.Thr1748Ser) c.5326A>T (p.Thr1776Ser) c.5374A>T (p.Thr1792Ser) c.4348A>T (p.Thr1450Ser) c.3929A>T c.3490A>T (p.Thr1164Ser) c.*1307A>T (n.*1307A>T) c.4643A>T c.5416A>T (p.Thr1806Ser) c.5413A>T (p.Thr1805Ser) c.5368A>T (p.Thr1790Ser) c.4492A>T (p.Thr1498Ser) c.4261A>T (p.Thr1421Ser) | |
10 | g.94298586C>A | CA377642090 | PLCE1 | c.4451C>A (p.Thr1484Asn) c.*1918C>A (n.*1918C>A) n.2110C>A n.794C>A c.*659C>A (n.*659C>A) c.4403C>A (p.Thr1468Asn) n.9583C>A n.3048C>A c.5243C>A (p.Thr1748Asn) c.5327C>A (p.Thr1776Asn) c.5375C>A (p.Thr1792Asn) c.4349C>A (p.Thr1450Asn) c.3930C>A c.3491C>A (p.Thr1164Asn) c.*1308C>A (n.*1308C>A) c.4644C>A c.5417C>A (p.Thr1806Asn) c.5414C>A (p.Thr1805Asn) c.5369C>A (p.Thr1790Asn) c.4493C>A (p.Thr1498Asn) c.4262C>A (p.Thr1421Asn) | |
10 | g.94298586C>G | CA377642091 | PLCE1 | c.4451C>G (p.Thr1484Ser) c.*1918C>G (n.*1918C>G) n.2110C>G n.794C>G c.*659C>G (n.*659C>G) c.4403C>G (p.Thr1468Ser) n.9583C>G n.3048C>G c.5243C>G (p.Thr1748Ser) c.5327C>G (p.Thr1776Ser) c.5375C>G (p.Thr1792Ser) c.4349C>G (p.Thr1450Ser) c.3930C>G c.3491C>G (p.Thr1164Ser) c.*1308C>G (n.*1308C>G) c.4644C>G c.5417C>G (p.Thr1806Ser) c.5414C>G (p.Thr1805Ser) c.5369C>G (p.Thr1790Ser) c.4493C>G (p.Thr1498Ser) c.4262C>G (p.Thr1421Ser) | |
10 | g.94298586C>T | CA377642092 | PLCE1 | c.4451C>T (p.Thr1484Ile) c.*1918C>T (n.*1918C>T) n.2110C>T n.794C>T c.*659C>T (n.*659C>T) c.4403C>T (p.Thr1468Ile) n.9583C>T n.3048C>T c.5243C>T (p.Thr1748Ile) c.5327C>T (p.Thr1776Ile) c.5375C>T (p.Thr1792Ile) c.4349C>T (p.Thr1450Ile) c.3930C>T c.3491C>T (p.Thr1164Ile) c.*1308C>T (n.*1308C>T) c.4644C>T c.5417C>T (p.Thr1806Ile) c.5414C>T (p.Thr1805Ile) c.5369C>T (p.Thr1790Ile) c.4493C>T (p.Thr1498Ile) c.4262C>T (p.Thr1421Ile) | |
10 | g.94298587C>A | CA470986599 | PLCE1 | c.4452C>A (p.Thr1484=) c.*1919C>A (n.*1919C>A) n.2111C>A n.795C>A c.*660C>A (n.*660C>A) c.4404C>A (p.Thr1468=) n.9584C>A n.3049C>A c.5244C>A (p.Thr1748=) c.5328C>A (p.Thr1776=) c.5376C>A (p.Thr1792=) c.4350C>A (p.Thr1450=) c.3931C>A c.3492C>A (p.Thr1164=) c.*1309C>A (n.*1309C>A) c.4645C>A c.5418C>A (p.Thr1806=) c.5415C>A (p.Thr1805=) c.5370C>A (p.Thr1790=) c.4494C>A (p.Thr1498=) c.4263C>A (p.Thr1421=) | |
10 | g.94298587C= | CA1928998446 | PLCE1 | c.4452C= (p.Thr1484=) c.*1919C= (n.*1919C=) n.2111C= n.795C= c.*660C= (n.*660C=) c.4404C= (p.Thr1468=) n.9584C= n.3049C= c.5244C= (p.Thr1748=) c.5328C= (p.Thr1776=) c.5376C= (p.Thr1792=) c.4350C= (p.Thr1450=) c.3931C= c.3492C= (p.Thr1164=) c.*1309C= (n.*1309C=) c.4645C= c.5418C= (p.Thr1806=) c.5415C= (p.Thr1805=) c.5370C= (p.Thr1790=) c.4494C= (p.Thr1498=) c.4263C= (p.Thr1421=) | |
10 | g.94298587C>G | CA470986600 | PLCE1 | c.4452C>G (p.Thr1484=) c.*1919C>G (n.*1919C>G) n.2111C>G n.795C>G c.*660C>G (n.*660C>G) c.4404C>G (p.Thr1468=) n.9584C>G n.3049C>G c.5244C>G (p.Thr1748=) c.5328C>G (p.Thr1776=) c.5376C>G (p.Thr1792=) c.4350C>G (p.Thr1450=) c.3931C>G c.3492C>G (p.Thr1164=) c.*1309C>G (n.*1309C>G) c.4645C>G c.5418C>G (p.Thr1806=) c.5415C>G (p.Thr1805=) c.5370C>G (p.Thr1790=) c.4494C>G (p.Thr1498=) c.4263C>G (p.Thr1421=) | |
10 | g.94298587C>T | CA5613348 | PLCE1 | c.4452C>T (p.Thr1484=) c.*1919C>T (n.*1919C>T) n.2111C>T n.795C>T c.*660C>T (n.*660C>T) c.4404C>T (p.Thr1468=) n.9584C>T n.3049C>T c.5244C>T (p.Thr1748=) c.5328C>T (p.Thr1776=) c.5376C>T (p.Thr1792=) c.4350C>T (p.Thr1450=) c.3931C>T c.3492C>T (p.Thr1164=) c.*1309C>T (n.*1309C>T) c.4645C>T c.5418C>T (p.Thr1806=) c.5415C>T (p.Thr1805=) c.5370C>T (p.Thr1790=) c.4494C>T (p.Thr1498=) c.4263C>T (p.Thr1421=) | dbSNP ExAC gnomAD v2 |
10 | g.94298588C>A | CA377642095 | PLCE1 | c.4453C>A (p.Arg1485Ser) c.*1920C>A (n.*1920C>A) n.2112C>A n.796C>A c.*661C>A (n.*661C>A) c.4405C>A (p.Arg1469Ser) n.9585C>A n.3050C>A c.5245C>A (p.Arg1749Ser) c.5329C>A (p.Arg1777Ser) c.5377C>A (p.Arg1793Ser) c.4351C>A (p.Arg1451Ser) c.3932C>A c.3493C>A (p.Arg1165Ser) c.*1310C>A (n.*1310C>A) c.4646C>A c.5419C>A (p.Arg1807Ser) c.5416C>A (p.Arg1806Ser) c.5371C>A (p.Arg1791Ser) c.4495C>A (p.Arg1499Ser) c.4264C>A (p.Arg1422Ser) | |
10 | g.94298588C= | CA1928998447 | PLCE1 | c.4453C= (p.Arg1485=) c.*1920C= (n.*1920C=) n.2112C= n.796C= c.*661C= (n.*661C=) c.4405C= (p.Arg1469=) n.9585C= n.3050C= c.5245C= (p.Arg1749=) c.5329C= (p.Arg1777=) c.5377C= (p.Arg1793=) c.4351C= (p.Arg1451=) c.3932C= c.3493C= (p.Arg1165=) c.*1310C= (n.*1310C=) c.4646C= c.5419C= (p.Arg1807=) c.5416C= (p.Arg1806=) c.5371C= (p.Arg1791=) c.4495C= (p.Arg1499=) c.4264C= (p.Arg1422=) | |
10 | g.94298588C>G | CA377642094 | PLCE1 | c.4453C>G (p.Arg1485Gly) c.*1920C>G (n.*1920C>G) n.2112C>G n.796C>G c.*661C>G (n.*661C>G) c.4405C>G (p.Arg1469Gly) n.9585C>G n.3050C>G c.5245C>G (p.Arg1749Gly) c.5329C>G (p.Arg1777Gly) c.5377C>G (p.Arg1793Gly) c.4351C>G (p.Arg1451Gly) c.3932C>G c.3493C>G (p.Arg1165Gly) c.*1310C>G (n.*1310C>G) c.4646C>G c.5419C>G (p.Arg1807Gly) c.5416C>G (p.Arg1806Gly) c.5371C>G (p.Arg1791Gly) c.4495C>G (p.Arg1499Gly) c.4264C>G (p.Arg1422Gly) | gnomAD v4 |
10 | g.94298588C>T | CA377642093 | PLCE1 | c.4453C>T (p.Arg1485Cys) c.*1920C>T (n.*1920C>T) n.2112C>T n.796C>T c.*661C>T (n.*661C>T) c.4405C>T (p.Arg1469Cys) n.9585C>T n.3050C>T c.5245C>T (p.Arg1749Cys) c.5329C>T (p.Arg1777Cys) c.5377C>T (p.Arg1793Cys) c.4351C>T (p.Arg1451Cys) c.3932C>T c.3493C>T (p.Arg1165Cys) c.*1310C>T (n.*1310C>T) c.4646C>T c.5419C>T (p.Arg1807Cys) c.5416C>T (p.Arg1806Cys) c.5371C>T (p.Arg1791Cys) c.4495C>T (p.Arg1499Cys) c.4264C>T (p.Arg1422Cys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298589G>A | CA377642096 | PLCE1 | c.4454G>A (p.Arg1485His) c.*1921G>A (n.*1921G>A) n.2113G>A n.797G>A c.*662G>A (n.*662G>A) c.4406G>A (p.Arg1469His) n.9586G>A n.3051G>A c.5246G>A (p.Arg1749His) c.5330G>A (p.Arg1777His) c.5378G>A (p.Arg1793His) c.4352G>A (p.Arg1451His) c.3933G>A c.3494G>A (p.Arg1165His) c.*1311G>A (n.*1311G>A) c.4647G>A c.5420G>A (p.Arg1807His) c.5417G>A (p.Arg1806His) c.5372G>A (p.Arg1791His) c.4496G>A (p.Arg1499His) c.4265G>A (p.Arg1422His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298589G>C | CA377642097 | PLCE1 | c.4454G>C (p.Arg1485Pro) c.*1921G>C (n.*1921G>C) n.2113G>C n.797G>C c.*662G>C (n.*662G>C) c.4406G>C (p.Arg1469Pro) n.9586G>C n.3051G>C c.5246G>C (p.Arg1749Pro) c.5330G>C (p.Arg1777Pro) c.5378G>C (p.Arg1793Pro) c.4352G>C (p.Arg1451Pro) c.3933G>C c.3494G>C (p.Arg1165Pro) c.*1311G>C (n.*1311G>C) c.4647G>C c.5420G>C (p.Arg1807Pro) c.5417G>C (p.Arg1806Pro) c.5372G>C (p.Arg1791Pro) c.4496G>C (p.Arg1499Pro) c.4265G>C (p.Arg1422Pro) | |
10 | g.94298589G= | CA1928998448 | PLCE1 | c.4454G= (p.Arg1485=) c.*1921G= (n.*1921G=) n.2113G= n.797G= c.*662G= (n.*662G=) c.4406G= (p.Arg1469=) n.9586G= n.3051G= c.5246G= (p.Arg1749=) c.5330G= (p.Arg1777=) c.5378G= (p.Arg1793=) c.4352G= (p.Arg1451=) c.3933G= c.3494G= (p.Arg1165=) c.*1311G= (n.*1311G=) c.4647G= c.5420G= (p.Arg1807=) c.5417G= (p.Arg1806=) c.5372G= (p.Arg1791=) c.4496G= (p.Arg1499=) c.4265G= (p.Arg1422=) | |
10 | g.94298589G>T | CA377642098 | PLCE1 | c.4454G>T (p.Arg1485Leu) c.*1921G>T (n.*1921G>T) n.2113G>T n.797G>T c.*662G>T (n.*662G>T) c.4406G>T (p.Arg1469Leu) n.9586G>T n.3051G>T c.5246G>T (p.Arg1749Leu) c.5330G>T (p.Arg1777Leu) c.5378G>T (p.Arg1793Leu) c.4352G>T (p.Arg1451Leu) c.3933G>T c.3494G>T (p.Arg1165Leu) c.*1311G>T (n.*1311G>T) c.4647G>T c.5420G>T (p.Arg1807Leu) c.5417G>T (p.Arg1806Leu) c.5372G>T (p.Arg1791Leu) c.4496G>T (p.Arg1499Leu) c.4265G>T (p.Arg1422Leu) | |
10 | g.94298590C>A | CA470986604 | PLCE1 | c.4455C>A (p.Arg1485=) c.*1922C>A (n.*1922C>A) n.2114C>A n.798C>A c.*663C>A (n.*663C>A) c.4407C>A (p.Arg1469=) n.9587C>A n.3052C>A c.5247C>A (p.Arg1749=) c.5331C>A (p.Arg1777=) c.5379C>A (p.Arg1793=) c.4353C>A (p.Arg1451=) c.3934C>A c.3495C>A (p.Arg1165=) c.*1312C>A (n.*1312C>A) c.4648C>A c.5421C>A (p.Arg1807=) c.5418C>A (p.Arg1806=) c.5373C>A (p.Arg1791=) c.4497C>A (p.Arg1499=) c.4266C>A (p.Arg1422=) | |
10 | g.94298590C>G | CA470986603 | PLCE1 | c.4455C>G (p.Arg1485=) c.*1922C>G (n.*1922C>G) n.2114C>G n.798C>G c.*663C>G (n.*663C>G) c.4407C>G (p.Arg1469=) n.9587C>G n.3052C>G c.5247C>G (p.Arg1749=) c.5331C>G (p.Arg1777=) c.5379C>G (p.Arg1793=) c.4353C>G (p.Arg1451=) c.3934C>G c.3495C>G (p.Arg1165=) c.*1312C>G (n.*1312C>G) c.4648C>G c.5421C>G (p.Arg1807=) c.5418C>G (p.Arg1806=) c.5373C>G (p.Arg1791=) c.4497C>G (p.Arg1499=) c.4266C>G (p.Arg1422=) | |
10 | g.94298590C>T | CA470986602 | PLCE1 | c.4455C>T (p.Arg1485=) c.*1922C>T (n.*1922C>T) n.2114C>T n.798C>T c.*663C>T (n.*663C>T) c.4407C>T (p.Arg1469=) n.9587C>T n.3052C>T c.5247C>T (p.Arg1749=) c.5331C>T (p.Arg1777=) c.5379C>T (p.Arg1793=) c.4353C>T (p.Arg1451=) c.3934C>T c.3495C>T (p.Arg1165=) c.*1312C>T (n.*1312C>T) c.4648C>T c.5421C>T (p.Arg1807=) c.5418C>T (p.Arg1806=) c.5373C>T (p.Arg1791=) c.4497C>T (p.Arg1499=) c.4266C>T (p.Arg1422=) | |
10 | g.94298591A>C | CA377642099 | PLCE1 | c.4456A>C (p.Ile1486Leu) c.*1923A>C (n.*1923A>C) n.2115A>C n.799A>C c.*664A>C (n.*664A>C) c.4408A>C (p.Ile1470Leu) n.9588A>C n.3053A>C c.5248A>C (p.Ile1750Leu) c.5332A>C (p.Ile1778Leu) c.5380A>C (p.Ile1794Leu) c.4354A>C (p.Ile1452Leu) c.3935A>C c.3496A>C (p.Ile1166Leu) c.*1313A>C (n.*1313A>C) c.4649A>C c.5422A>C (p.Ile1808Leu) c.5419A>C (p.Ile1807Leu) c.5374A>C (p.Ile1792Leu) c.4498A>C (p.Ile1500Leu) c.4267A>C (p.Ile1423Leu) | |
10 | g.94298591A>G | CA377642100 | PLCE1 | c.4456A>G (p.Ile1486Val) c.*1923A>G (n.*1923A>G) n.2115A>G n.799A>G c.*664A>G (n.*664A>G) c.4408A>G (p.Ile1470Val) n.9588A>G n.3053A>G c.5248A>G (p.Ile1750Val) c.5332A>G (p.Ile1778Val) c.5380A>G (p.Ile1794Val) c.4354A>G (p.Ile1452Val) c.3935A>G c.3496A>G (p.Ile1166Val) c.*1313A>G (n.*1313A>G) c.4649A>G c.5422A>G (p.Ile1808Val) c.5419A>G (p.Ile1807Val) c.5374A>G (p.Ile1792Val) c.4498A>G (p.Ile1500Val) c.4267A>G (p.Ile1423Val) | gnomAD v4 |
10 | g.94298591A>T | CA377642101 | PLCE1 | c.4456A>T (p.Ile1486Phe) c.*1923A>T (n.*1923A>T) n.2115A>T n.799A>T c.*664A>T (n.*664A>T) c.4408A>T (p.Ile1470Phe) n.9588A>T n.3053A>T c.5248A>T (p.Ile1750Phe) c.5332A>T (p.Ile1778Phe) c.5380A>T (p.Ile1794Phe) c.4354A>T (p.Ile1452Phe) c.3935A>T c.3496A>T (p.Ile1166Phe) c.*1313A>T (n.*1313A>T) c.4649A>T c.5422A>T (p.Ile1808Phe) c.5419A>T (p.Ile1807Phe) c.5374A>T (p.Ile1792Phe) c.4498A>T (p.Ile1500Phe) c.4267A>T (p.Ile1423Phe) | |
10 | g.94298592T>A | CA377642102 | PLCE1 | c.4457T>A (p.Ile1486Asn) c.*1924T>A (n.*1924T>A) n.2116T>A n.800T>A c.*665T>A (n.*665T>A) c.4409T>A (p.Ile1470Asn) n.9589T>A n.3054T>A c.5249T>A (p.Ile1750Asn) c.5333T>A (p.Ile1778Asn) c.5381T>A (p.Ile1794Asn) c.4355T>A (p.Ile1452Asn) c.3936T>A c.3497T>A (p.Ile1166Asn) c.*1314T>A (n.*1314T>A) c.4650T>A c.5423T>A (p.Ile1808Asn) c.5420T>A (p.Ile1807Asn) c.5375T>A (p.Ile1792Asn) c.4499T>A (p.Ile1500Asn) c.4268T>A (p.Ile1423Asn) | |
10 | g.94298592T>C | CA377642103 | PLCE1 | c.4457T>C (p.Ile1486Thr) c.*1924T>C (n.*1924T>C) n.2116T>C n.800T>C c.*665T>C (n.*665T>C) c.4409T>C (p.Ile1470Thr) n.9589T>C n.3054T>C c.5249T>C (p.Ile1750Thr) c.5333T>C (p.Ile1778Thr) c.5381T>C (p.Ile1794Thr) c.4355T>C (p.Ile1452Thr) c.3936T>C c.3497T>C (p.Ile1166Thr) c.*1314T>C (n.*1314T>C) c.4650T>C c.5423T>C (p.Ile1808Thr) c.5420T>C (p.Ile1807Thr) c.5375T>C (p.Ile1792Thr) c.4499T>C (p.Ile1500Thr) c.4268T>C (p.Ile1423Thr) | |
10 | g.94298592T>G | CA377642104 | PLCE1 | c.4457T>G (p.Ile1486Ser) c.*1924T>G (n.*1924T>G) n.2116T>G n.800T>G c.*665T>G (n.*665T>G) c.4409T>G (p.Ile1470Ser) n.9589T>G n.3054T>G c.5249T>G (p.Ile1750Ser) c.5333T>G (p.Ile1778Ser) c.5381T>G (p.Ile1794Ser) c.4355T>G (p.Ile1452Ser) c.3936T>G c.3497T>G (p.Ile1166Ser) c.*1314T>G (n.*1314T>G) c.4650T>G c.5423T>G (p.Ile1808Ser) c.5420T>G (p.Ile1807Ser) c.5375T>G (p.Ile1792Ser) c.4499T>G (p.Ile1500Ser) c.4268T>G (p.Ile1423Ser) | |
10 | g.94298593C>A | CA211599807 | PLCE1 | c.4458C>A (p.Ile1486=) c.*1925C>A (n.*1925C>A) n.2117C>A n.801C>A c.*666C>A (n.*666C>A) c.4410C>A (p.Ile1470=) n.9590C>A n.3055C>A c.5250C>A (p.Ile1750=) c.5334C>A (p.Ile1778=) c.5382C>A (p.Ile1794=) c.4356C>A (p.Ile1452=) c.3937C>A c.3498C>A (p.Ile1166=) c.*1315C>A (n.*1315C>A) c.4651C>A c.5424C>A (p.Ile1808=) c.5421C>A (p.Ile1807=) c.5376C>A (p.Ile1792=) c.4500C>A (p.Ile1500=) c.4269C>A (p.Ile1423=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298593C= | CA1928998449 | PLCE1 | c.4458C= (p.Ile1486=) c.*1925C= (n.*1925C=) n.2117C= n.801C= c.*666C= (n.*666C=) c.4410C= (p.Ile1470=) n.9590C= n.3055C= c.5250C= (p.Ile1750=) c.5334C= (p.Ile1778=) c.5382C= (p.Ile1794=) c.4356C= (p.Ile1452=) c.3937C= c.3498C= (p.Ile1166=) c.*1315C= (n.*1315C=) c.4651C= c.5424C= (p.Ile1808=) c.5421C= (p.Ile1807=) c.5376C= (p.Ile1792=) c.4500C= (p.Ile1500=) c.4269C= (p.Ile1423=) | |
10 | g.94298593C>G | CA377642105 | PLCE1 | c.4458C>G (p.Ile1486Met) c.*1925C>G (n.*1925C>G) n.2117C>G n.801C>G c.*666C>G (n.*666C>G) c.4410C>G (p.Ile1470Met) n.9590C>G n.3055C>G c.5250C>G (p.Ile1750Met) c.5334C>G (p.Ile1778Met) c.5382C>G (p.Ile1794Met) c.4356C>G (p.Ile1452Met) c.3937C>G c.3498C>G (p.Ile1166Met) c.*1315C>G (n.*1315C>G) c.4651C>G c.5424C>G (p.Ile1808Met) c.5421C>G (p.Ile1807Met) c.5376C>G (p.Ile1792Met) c.4500C>G (p.Ile1500Met) c.4269C>G (p.Ile1423Met) | |
10 | g.94298593C>T | CA5613349 | PLCE1 | c.4458C>T (p.Ile1486=) c.*1925C>T (n.*1925C>T) n.2117C>T n.801C>T c.*666C>T (n.*666C>T) c.4410C>T (p.Ile1470=) n.9590C>T n.3055C>T c.5250C>T (p.Ile1750=) c.5334C>T (p.Ile1778=) c.5382C>T (p.Ile1794=) c.4356C>T (p.Ile1452=) c.3937C>T c.3498C>T (p.Ile1166=) c.*1315C>T (n.*1315C>T) c.4651C>T c.5424C>T (p.Ile1808=) c.5421C>T (p.Ile1807=) c.5376C>T (p.Ile1792=) c.4500C>T (p.Ile1500=) c.4269C>T (p.Ile1423=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298594G>A | CA377642108 | PLCE1 | c.4459G>A (p.Asp1487Asn) c.*1926G>A (n.*1926G>A) n.2118G>A n.802G>A c.*667G>A (n.*667G>A) c.4411G>A (p.Asp1471Asn) n.9591G>A n.3056G>A c.5251G>A (p.Asp1751Asn) c.5335G>A (p.Asp1779Asn) c.5383G>A (p.Asp1795Asn) c.4357G>A (p.Asp1453Asn) c.3938G>A c.3499G>A (p.Asp1167Asn) c.*1316G>A (n.*1316G>A) c.4652G>A c.5425G>A (p.Asp1809Asn) c.5422G>A (p.Asp1808Asn) c.5377G>A (p.Asp1793Asn) c.4501G>A (p.Asp1501Asn) c.4270G>A (p.Asp1424Asn) | dbSNP |
10 | g.94298594G>C | CA377642106 | PLCE1 | c.4459G>C (p.Asp1487His) c.*1926G>C (n.*1926G>C) n.2118G>C n.802G>C c.*667G>C (n.*667G>C) c.4411G>C (p.Asp1471His) n.9591G>C n.3056G>C c.5251G>C (p.Asp1751His) c.5335G>C (p.Asp1779His) c.5383G>C (p.Asp1795His) c.4357G>C (p.Asp1453His) c.3938G>C c.3499G>C (p.Asp1167His) c.*1316G>C (n.*1316G>C) c.4652G>C c.5425G>C (p.Asp1809His) c.5422G>C (p.Asp1808His) c.5377G>C (p.Asp1793His) c.4501G>C (p.Asp1501His) c.4270G>C (p.Asp1424His) | ClinVar |
10 | g.94298594G= | CA1928998450 | PLCE1 | c.4459G= (p.Asp1487=) c.*1926G= (n.*1926G=) n.2118G= n.802G= c.*667G= (n.*667G=) c.4411G= (p.Asp1471=) n.9591G= n.3056G= c.5251G= (p.Asp1751=) c.5335G= (p.Asp1779=) c.5383G= (p.Asp1795=) c.4357G= (p.Asp1453=) c.3938G= c.3499G= (p.Asp1167=) c.*1316G= (n.*1316G=) c.4652G= c.5425G= (p.Asp1809=) c.5422G= (p.Asp1808=) c.5377G= (p.Asp1793=) c.4501G= (p.Asp1501=) c.4270G= (p.Asp1424=) | |
10 | g.94298594G>T | CA377642107 | PLCE1 | c.4459G>T (p.Asp1487Tyr) c.*1926G>T (n.*1926G>T) n.2118G>T n.802G>T c.*667G>T (n.*667G>T) c.4411G>T (p.Asp1471Tyr) n.9591G>T n.3056G>T c.5251G>T (p.Asp1751Tyr) c.5335G>T (p.Asp1779Tyr) c.5383G>T (p.Asp1795Tyr) c.4357G>T (p.Asp1453Tyr) c.3938G>T c.3499G>T (p.Asp1167Tyr) c.*1316G>T (n.*1316G>T) c.4652G>T c.5425G>T (p.Asp1809Tyr) c.5422G>T (p.Asp1808Tyr) c.5377G>T (p.Asp1793Tyr) c.4501G>T (p.Asp1501Tyr) c.4270G>T (p.Asp1424Tyr) | |
10 | g.94298595A>C | CA377642109 | PLCE1 | c.4460A>C (p.Asp1487Ala) c.*1927A>C (n.*1927A>C) n.2119A>C n.803A>C c.*668A>C (n.*668A>C) c.4412A>C (p.Asp1471Ala) n.9592A>C n.3057A>C c.5252A>C (p.Asp1751Ala) c.5336A>C (p.Asp1779Ala) c.5384A>C (p.Asp1795Ala) c.4358A>C (p.Asp1453Ala) c.3939A>C c.3500A>C (p.Asp1167Ala) c.*1317A>C (n.*1317A>C) c.4653A>C c.5426A>C (p.Asp1809Ala) c.5423A>C (p.Asp1808Ala) c.5378A>C (p.Asp1793Ala) c.4502A>C (p.Asp1501Ala) c.4271A>C (p.Asp1424Ala) | |
10 | g.94298595A>G | CA377642110 | PLCE1 | c.4460A>G (p.Asp1487Gly) c.*1927A>G (n.*1927A>G) n.2119A>G n.803A>G c.*668A>G (n.*668A>G) c.4412A>G (p.Asp1471Gly) n.9592A>G n.3057A>G c.5252A>G (p.Asp1751Gly) c.5336A>G (p.Asp1779Gly) c.5384A>G (p.Asp1795Gly) c.4358A>G (p.Asp1453Gly) c.3939A>G c.3500A>G (p.Asp1167Gly) c.*1317A>G (n.*1317A>G) c.4653A>G c.5426A>G (p.Asp1809Gly) c.5423A>G (p.Asp1808Gly) c.5378A>G (p.Asp1793Gly) c.4502A>G (p.Asp1501Gly) c.4271A>G (p.Asp1424Gly) | |
10 | g.94298595A>T | CA377642111 | PLCE1 | c.4460A>T (p.Asp1487Val) c.*1927A>T (n.*1927A>T) n.2119A>T n.803A>T c.*668A>T (n.*668A>T) c.4412A>T (p.Asp1471Val) n.9592A>T n.3057A>T c.5252A>T (p.Asp1751Val) c.5336A>T (p.Asp1779Val) c.5384A>T (p.Asp1795Val) c.4358A>T (p.Asp1453Val) c.3939A>T c.3500A>T (p.Asp1167Val) c.*1317A>T (n.*1317A>T) c.4653A>T c.5426A>T (p.Asp1809Val) c.5423A>T (p.Asp1808Val) c.5378A>T (p.Asp1793Val) c.4502A>T (p.Asp1501Val) c.4271A>T (p.Asp1424Val) | |
10 | g.94298596C>A | CA377642112 | PLCE1 | c.4461C>A (p.Asp1487Glu) c.*1928C>A (n.*1928C>A) n.2120C>A n.804C>A c.*669C>A (n.*669C>A) c.4413C>A (p.Asp1471Glu) n.9593C>A n.3058C>A c.5253C>A (p.Asp1751Glu) c.5337C>A (p.Asp1779Glu) c.5385C>A (p.Asp1795Glu) c.4359C>A (p.Asp1453Glu) c.3940C>A c.3501C>A (p.Asp1167Glu) c.*1318C>A (n.*1318C>A) c.4654C>A c.5427C>A (p.Asp1809Glu) c.5424C>A (p.Asp1808Glu) c.5379C>A (p.Asp1793Glu) c.4503C>A (p.Asp1501Glu) c.4272C>A (p.Asp1424Glu) | dbSNP |
10 | g.94298596C= | CA1928998451 | PLCE1 | c.4461C= (p.Asp1487=) c.*1928C= (n.*1928C=) n.2120C= n.804C= c.*669C= (n.*669C=) c.4413C= (p.Asp1471=) n.9593C= n.3058C= c.5253C= (p.Asp1751=) c.5337C= (p.Asp1779=) c.5385C= (p.Asp1795=) c.4359C= (p.Asp1453=) c.3940C= c.3501C= (p.Asp1167=) c.*1318C= (n.*1318C=) c.4654C= c.5427C= (p.Asp1809=) c.5424C= (p.Asp1808=) c.5379C= (p.Asp1793=) c.4503C= (p.Asp1501=) c.4272C= (p.Asp1424=) | |
10 | g.94298596C>G | CA377642113 | PLCE1 | c.4461C>G (p.Asp1487Glu) c.*1928C>G (n.*1928C>G) n.2120C>G n.804C>G c.*669C>G (n.*669C>G) c.4413C>G (p.Asp1471Glu) n.9593C>G n.3058C>G c.5253C>G (p.Asp1751Glu) c.5337C>G (p.Asp1779Glu) c.5385C>G (p.Asp1795Glu) c.4359C>G (p.Asp1453Glu) c.3940C>G c.3501C>G (p.Asp1167Glu) c.*1318C>G (n.*1318C>G) c.4654C>G c.5427C>G (p.Asp1809Glu) c.5424C>G (p.Asp1808Glu) c.5379C>G (p.Asp1793Glu) c.4503C>G (p.Asp1501Glu) c.4272C>G (p.Asp1424Glu) | gnomAD v4 |
10 | g.94298596C>T | CA470986608 | PLCE1 | c.4461C>T (p.Asp1487=) c.*1928C>T (n.*1928C>T) n.2120C>T n.804C>T c.*669C>T (n.*669C>T) c.4413C>T (p.Asp1471=) n.9593C>T n.3058C>T c.5253C>T (p.Asp1751=) c.5337C>T (p.Asp1779=) c.5385C>T (p.Asp1795=) c.4359C>T (p.Asp1453=) c.3940C>T c.3501C>T (p.Asp1167=) c.*1318C>T (n.*1318C>T) c.4654C>T c.5427C>T (p.Asp1809=) c.5424C>T (p.Asp1808=) c.5379C>T (p.Asp1793=) c.4503C>T (p.Asp1501=) c.4272C>T (p.Asp1424=) | |
10 | g.94298597T>A | CA377642114 | PLCE1 | c.4462T>A (p.Ser1488Thr) c.*1929T>A (n.*1929T>A) n.2121T>A n.805T>A c.*670T>A (n.*670T>A) c.4414T>A (p.Ser1472Thr) n.9594T>A n.3059T>A c.5254T>A (p.Ser1752Thr) c.5338T>A (p.Ser1780Thr) c.5386T>A (p.Ser1796Thr) c.4360T>A (p.Ser1454Thr) c.3941T>A c.3502T>A (p.Ser1168Thr) c.*1319T>A (n.*1319T>A) c.4655T>A c.5428T>A (p.Ser1810Thr) c.5425T>A (p.Ser1809Thr) c.5380T>A (p.Ser1794Thr) c.4504T>A (p.Ser1502Thr) c.4273T>A (p.Ser1425Thr) | |
10 | g.94298597T>C | CA377642115 | PLCE1 | c.4462T>C (p.Ser1488Pro) c.*1929T>C (n.*1929T>C) n.2121T>C n.805T>C c.*670T>C (n.*670T>C) c.4414T>C (p.Ser1472Pro) n.9594T>C n.3059T>C c.5254T>C (p.Ser1752Pro) c.5338T>C (p.Ser1780Pro) c.5386T>C (p.Ser1796Pro) c.4360T>C (p.Ser1454Pro) c.3941T>C c.3502T>C (p.Ser1168Pro) c.*1319T>C (n.*1319T>C) c.4655T>C c.5428T>C (p.Ser1810Pro) c.5425T>C (p.Ser1809Pro) c.5380T>C (p.Ser1794Pro) c.4504T>C (p.Ser1502Pro) c.4273T>C (p.Ser1425Pro) | |
10 | g.94298597T>G | CA377642116 | PLCE1 | c.4462T>G (p.Ser1488Ala) c.*1929T>G (n.*1929T>G) n.2121T>G n.805T>G c.*670T>G (n.*670T>G) c.4414T>G (p.Ser1472Ala) n.9594T>G n.3059T>G c.5254T>G (p.Ser1752Ala) c.5338T>G (p.Ser1780Ala) c.5386T>G (p.Ser1796Ala) c.4360T>G (p.Ser1454Ala) c.3941T>G c.3502T>G (p.Ser1168Ala) c.*1319T>G (n.*1319T>G) c.4655T>G c.5428T>G (p.Ser1810Ala) c.5425T>G (p.Ser1809Ala) c.5380T>G (p.Ser1794Ala) c.4504T>G (p.Ser1502Ala) c.4273T>G (p.Ser1425Ala) | |
10 | g.94298598C>A | CA377642117 | PLCE1 | c.4463C>A (p.Ser1488Tyr) c.*1930C>A (n.*1930C>A) n.2122C>A n.806C>A c.*671C>A (n.*671C>A) c.4415C>A (p.Ser1472Tyr) n.9595C>A n.3060C>A c.5255C>A (p.Ser1752Tyr) c.5339C>A (p.Ser1780Tyr) c.5387C>A (p.Ser1796Tyr) c.4361C>A (p.Ser1454Tyr) c.3942C>A c.3503C>A (p.Ser1168Tyr) c.*1320C>A (n.*1320C>A) c.4656C>A c.5429C>A (p.Ser1810Tyr) c.5426C>A (p.Ser1809Tyr) c.5381C>A (p.Ser1794Tyr) c.4505C>A (p.Ser1502Tyr) c.4274C>A (p.Ser1425Tyr) | |
10 | g.94298598C>G | CA377642118 | PLCE1 | c.4463C>G (p.Ser1488Cys) c.*1930C>G (n.*1930C>G) n.2122C>G n.806C>G c.*671C>G (n.*671C>G) c.4415C>G (p.Ser1472Cys) n.9595C>G n.3060C>G c.5255C>G (p.Ser1752Cys) c.5339C>G (p.Ser1780Cys) c.5387C>G (p.Ser1796Cys) c.4361C>G (p.Ser1454Cys) c.3942C>G c.3503C>G (p.Ser1168Cys) c.*1320C>G (n.*1320C>G) c.4656C>G c.5429C>G (p.Ser1810Cys) c.5426C>G (p.Ser1809Cys) c.5381C>G (p.Ser1794Cys) c.4505C>G (p.Ser1502Cys) c.4274C>G (p.Ser1425Cys) | |
10 | g.94298598C>T | CA377642119 | PLCE1 | c.4463C>T (p.Ser1488Phe) c.*1930C>T (n.*1930C>T) n.2122C>T n.806C>T c.*671C>T (n.*671C>T) c.4415C>T (p.Ser1472Phe) n.9595C>T n.3060C>T c.5255C>T (p.Ser1752Phe) c.5339C>T (p.Ser1780Phe) c.5387C>T (p.Ser1796Phe) c.4361C>T (p.Ser1454Phe) c.3942C>T c.3503C>T (p.Ser1168Phe) c.*1320C>T (n.*1320C>T) c.4656C>T c.5429C>T (p.Ser1810Phe) c.5426C>T (p.Ser1809Phe) c.5381C>T (p.Ser1794Phe) c.4505C>T (p.Ser1502Phe) c.4274C>T (p.Ser1425Phe) | |
10 | g.94298599T>A | CA470986609 | PLCE1 | c.4464T>A (p.Ser1488=) c.*1931T>A (n.*1931T>A) n.2123T>A n.807T>A c.*672T>A (n.*672T>A) c.4416T>A (p.Ser1472=) n.9596T>A n.3061T>A c.5256T>A (p.Ser1752=) c.5340T>A (p.Ser1780=) c.5388T>A (p.Ser1796=) c.4362T>A (p.Ser1454=) c.3943T>A c.3504T>A (p.Ser1168=) c.*1321T>A (n.*1321T>A) c.4657T>A c.5430T>A (p.Ser1810=) c.5427T>A (p.Ser1809=) c.5382T>A (p.Ser1794=) c.4506T>A (p.Ser1502=) c.4275T>A (p.Ser1425=) | |
10 | g.94298599T>C | CA470986611 | PLCE1 | c.4464T>C (p.Ser1488=) c.*1931T>C (n.*1931T>C) n.2123T>C n.807T>C c.*672T>C (n.*672T>C) c.4416T>C (p.Ser1472=) n.9596T>C n.3061T>C c.5256T>C (p.Ser1752=) c.5340T>C (p.Ser1780=) c.5388T>C (p.Ser1796=) c.4362T>C (p.Ser1454=) c.3943T>C c.3504T>C (p.Ser1168=) c.*1321T>C (n.*1321T>C) c.4657T>C c.5430T>C (p.Ser1810=) c.5427T>C (p.Ser1809=) c.5382T>C (p.Ser1794=) c.4506T>C (p.Ser1502=) c.4275T>C (p.Ser1425=) | |
10 | g.94298599T>G | CA470986612 | PLCE1 | c.4464T>G (p.Ser1488=) c.*1931T>G (n.*1931T>G) n.2123T>G n.807T>G c.*672T>G (n.*672T>G) c.4416T>G (p.Ser1472=) n.9596T>G n.3061T>G c.5256T>G (p.Ser1752=) c.5340T>G (p.Ser1780=) c.5388T>G (p.Ser1796=) c.4362T>G (p.Ser1454=) c.3943T>G c.3504T>G (p.Ser1168=) c.*1321T>G (n.*1321T>G) c.4657T>G c.5430T>G (p.Ser1810=) c.5427T>G (p.Ser1809=) c.5382T>G (p.Ser1794=) c.4506T>G (p.Ser1502=) c.4275T>G (p.Ser1425=) | |
10 | g.94298600T>A | CA377642122 | PLCE1 | c.4465T>A (p.Ser1489Thr) c.*1932T>A (n.*1932T>A) n.2124T>A n.808T>A c.*673T>A (n.*673T>A) c.4417T>A (p.Ser1473Thr) n.9597T>A n.3062T>A c.5257T>A (p.Ser1753Thr) c.5341T>A (p.Ser1781Thr) c.5389T>A (p.Ser1797Thr) c.4363T>A (p.Ser1455Thr) c.3944T>A c.3505T>A (p.Ser1169Thr) c.*1322T>A (n.*1322T>A) c.4658T>A c.5431T>A (p.Ser1811Thr) c.5428T>A (p.Ser1810Thr) c.5383T>A (p.Ser1795Thr) c.4507T>A (p.Ser1503Thr) c.4276T>A (p.Ser1426Thr) | |
10 | g.94298600T>C | CA377642121 | PLCE1 | c.4465T>C (p.Ser1489Pro) c.*1932T>C (n.*1932T>C) n.2124T>C n.808T>C c.*673T>C (n.*673T>C) c.4417T>C (p.Ser1473Pro) n.9597T>C n.3062T>C c.5257T>C (p.Ser1753Pro) c.5341T>C (p.Ser1781Pro) c.5389T>C (p.Ser1797Pro) c.4363T>C (p.Ser1455Pro) c.3944T>C c.3505T>C (p.Ser1169Pro) c.*1322T>C (n.*1322T>C) c.4658T>C c.5431T>C (p.Ser1811Pro) c.5428T>C (p.Ser1810Pro) c.5383T>C (p.Ser1795Pro) c.4507T>C (p.Ser1503Pro) c.4276T>C (p.Ser1426Pro) | |
10 | g.94298600T>G | CA377642120 | PLCE1 | c.4465T>G (p.Ser1489Ala) c.*1932T>G (n.*1932T>G) n.2124T>G n.808T>G c.*673T>G (n.*673T>G) c.4417T>G (p.Ser1473Ala) n.9597T>G n.3062T>G c.5257T>G (p.Ser1753Ala) c.5341T>G (p.Ser1781Ala) c.5389T>G (p.Ser1797Ala) c.4363T>G (p.Ser1455Ala) c.3944T>G c.3505T>G (p.Ser1169Ala) c.*1322T>G (n.*1322T>G) c.4658T>G c.5431T>G (p.Ser1811Ala) c.5428T>G (p.Ser1810Ala) c.5383T>G (p.Ser1795Ala) c.4507T>G (p.Ser1503Ala) c.4276T>G (p.Ser1426Ala) | dbSNP |
10 | g.94298600T= | CA1928998452 | PLCE1 | c.4465T= (p.Ser1489=) c.*1932T= (n.*1932T=) n.2124T= n.808T= c.*673T= (n.*673T=) c.4417T= (p.Ser1473=) n.9597T= n.3062T= c.5257T= (p.Ser1753=) c.5341T= (p.Ser1781=) c.5389T= (p.Ser1797=) c.4363T= (p.Ser1455=) c.3944T= c.3505T= (p.Ser1169=) c.*1322T= (n.*1322T=) c.4658T= c.5431T= (p.Ser1811=) c.5428T= (p.Ser1810=) c.5383T= (p.Ser1795=) c.4507T= (p.Ser1503=) c.4276T= (p.Ser1426=) | |
10 | g.94298601C>A | CA377642123 | PLCE1 | c.4466C>A (p.Ser1489Tyr) c.*1933C>A (n.*1933C>A) n.2125C>A n.809C>A c.*674C>A (n.*674C>A) c.4418C>A (p.Ser1473Tyr) n.9598C>A n.3063C>A c.5258C>A (p.Ser1753Tyr) c.5342C>A (p.Ser1781Tyr) c.5390C>A (p.Ser1797Tyr) c.4364C>A (p.Ser1455Tyr) c.3945C>A c.3506C>A (p.Ser1169Tyr) c.*1323C>A (n.*1323C>A) c.4659C>A c.5432C>A (p.Ser1811Tyr) c.5429C>A (p.Ser1810Tyr) c.5384C>A (p.Ser1795Tyr) c.4508C>A (p.Ser1503Tyr) c.4277C>A (p.Ser1426Tyr) | |
10 | g.94298601C= | CA1928998453 | PLCE1 | c.4466C= (p.Ser1489=) c.*1933C= (n.*1933C=) n.2125C= n.809C= c.*674C= (n.*674C=) c.4418C= (p.Ser1473=) n.9598C= n.3063C= c.5258C= (p.Ser1753=) c.5342C= (p.Ser1781=) c.5390C= (p.Ser1797=) c.4364C= (p.Ser1455=) c.3945C= c.3506C= (p.Ser1169=) c.*1323C= (n.*1323C=) c.4659C= c.5432C= (p.Ser1811=) c.5429C= (p.Ser1810=) c.5384C= (p.Ser1795=) c.4508C= (p.Ser1503=) c.4277C= (p.Ser1426=) | |
10 | g.94298601C>G | CA5613350 | PLCE1 | c.4466C>G (p.Ser1489Cys) c.*1933C>G (n.*1933C>G) n.2125C>G n.809C>G c.*674C>G (n.*674C>G) c.4418C>G (p.Ser1473Cys) n.9598C>G n.3063C>G c.5258C>G (p.Ser1753Cys) c.5342C>G (p.Ser1781Cys) c.5390C>G (p.Ser1797Cys) c.4364C>G (p.Ser1455Cys) c.3945C>G c.3506C>G (p.Ser1169Cys) c.*1323C>G (n.*1323C>G) c.4659C>G c.5432C>G (p.Ser1811Cys) c.5429C>G (p.Ser1810Cys) c.5384C>G (p.Ser1795Cys) c.4508C>G (p.Ser1503Cys) c.4277C>G (p.Ser1426Cys) | dbSNP ExAC gnomAD v2 |
10 | g.94298601C>T | CA377642124 | PLCE1 | c.4466C>T (p.Ser1489Phe) c.*1933C>T (n.*1933C>T) n.2125C>T n.809C>T c.*674C>T (n.*674C>T) c.4418C>T (p.Ser1473Phe) n.9598C>T n.3063C>T c.5258C>T (p.Ser1753Phe) c.5342C>T (p.Ser1781Phe) c.5390C>T (p.Ser1797Phe) c.4364C>T (p.Ser1455Phe) c.3945C>T c.3506C>T (p.Ser1169Phe) c.*1323C>T (n.*1323C>T) c.4659C>T c.5432C>T (p.Ser1811Phe) c.5429C>T (p.Ser1810Phe) c.5384C>T (p.Ser1795Phe) c.4508C>T (p.Ser1503Phe) c.4277C>T (p.Ser1426Phe) | |
10 | g.94298602C>A | CA470986613 | PLCE1 | c.4467C>A (p.Ser1489=) c.*1934C>A (n.*1934C>A) n.2126C>A n.810C>A c.*675C>A (n.*675C>A) c.4419C>A (p.Ser1473=) n.9599C>A n.3064C>A c.5259C>A (p.Ser1753=) c.5343C>A (p.Ser1781=) c.5391C>A (p.Ser1797=) c.4365C>A (p.Ser1455=) c.3946C>A c.3507C>A (p.Ser1169=) c.*1324C>A (n.*1324C>A) c.4660C>A c.5433C>A (p.Ser1811=) c.5430C>A (p.Ser1810=) c.5385C>A (p.Ser1795=) c.4509C>A (p.Ser1503=) c.4278C>A (p.Ser1426=) | |
10 | g.94298602C>G | CA470986614 | PLCE1 | c.4467C>G (p.Ser1489=) c.*1934C>G (n.*1934C>G) n.2126C>G n.810C>G c.*675C>G (n.*675C>G) c.4419C>G (p.Ser1473=) n.9599C>G n.3064C>G c.5259C>G (p.Ser1753=) c.5343C>G (p.Ser1781=) c.5391C>G (p.Ser1797=) c.4365C>G (p.Ser1455=) c.3946C>G c.3507C>G (p.Ser1169=) c.*1324C>G (n.*1324C>G) c.4660C>G c.5433C>G (p.Ser1811=) c.5430C>G (p.Ser1810=) c.5385C>G (p.Ser1795=) c.4509C>G (p.Ser1503=) c.4278C>G (p.Ser1426=) | gnomAD v4 |
10 | g.94298602C>T | CA470986615 | PLCE1 | c.4467C>T (p.Ser1489=) c.*1934C>T (n.*1934C>T) n.2126C>T n.810C>T c.*675C>T (n.*675C>T) c.4419C>T (p.Ser1473=) n.9599C>T n.3064C>T c.5259C>T (p.Ser1753=) c.5343C>T (p.Ser1781=) c.5391C>T (p.Ser1797=) c.4365C>T (p.Ser1455=) c.3946C>T c.3507C>T (p.Ser1169=) c.*1324C>T (n.*1324C>T) c.4660C>T c.5433C>T (p.Ser1811=) c.5430C>T (p.Ser1810=) c.5385C>T (p.Ser1795=) c.4509C>T (p.Ser1503=) c.4278C>T (p.Ser1426=) | |
10 | g.94298603A>C | CA377642125 | PLCE1 | c.4468A>C (p.Asn1490His) c.*1935A>C (n.*1935A>C) n.2127A>C n.811A>C c.*676A>C (n.*676A>C) c.4420A>C (p.Asn1474His) n.9600A>C n.3065A>C c.5260A>C (p.Asn1754His) c.5344A>C (p.Asn1782His) c.5392A>C (p.Asn1798His) c.4366A>C (p.Asn1456His) c.3947A>C c.3508A>C (p.Asn1170His) c.*1325A>C (n.*1325A>C) c.4661A>C c.5434A>C (p.Asn1812His) c.5431A>C (p.Asn1811His) c.5386A>C (p.Asn1796His) c.4510A>C (p.Asn1504His) c.4279A>C (p.Asn1427His) | |
10 | g.94298603A>G | CA377642126 | PLCE1 | c.4468A>G (p.Asn1490Asp) c.*1935A>G (n.*1935A>G) n.2127A>G n.811A>G c.*676A>G (n.*676A>G) c.4420A>G (p.Asn1474Asp) n.9600A>G n.3065A>G c.5260A>G (p.Asn1754Asp) c.5344A>G (p.Asn1782Asp) c.5392A>G (p.Asn1798Asp) c.4366A>G (p.Asn1456Asp) c.3947A>G c.3508A>G (p.Asn1170Asp) c.*1325A>G (n.*1325A>G) c.4661A>G c.5434A>G (p.Asn1812Asp) c.5431A>G (p.Asn1811Asp) c.5386A>G (p.Asn1796Asp) c.4510A>G (p.Asn1504Asp) c.4279A>G (p.Asn1427Asp) | |
10 | g.94298603A>T | CA377642127 | PLCE1 | c.4468A>T (p.Asn1490Tyr) c.*1935A>T (n.*1935A>T) n.2127A>T n.811A>T c.*676A>T (n.*676A>T) c.4420A>T (p.Asn1474Tyr) n.9600A>T n.3065A>T c.5260A>T (p.Asn1754Tyr) c.5344A>T (p.Asn1782Tyr) c.5392A>T (p.Asn1798Tyr) c.4366A>T (p.Asn1456Tyr) c.3947A>T c.3508A>T (p.Asn1170Tyr) c.*1325A>T (n.*1325A>T) c.4661A>T c.5434A>T (p.Asn1812Tyr) c.5431A>T (p.Asn1811Tyr) c.5386A>T (p.Asn1796Tyr) c.4510A>T (p.Asn1504Tyr) c.4279A>T (p.Asn1427Tyr) | |
10 | g.94298604A>C | CA377642130 | PLCE1 | c.4469A>C (p.Asn1490Thr) c.*1936A>C (n.*1936A>C) n.2128A>C n.812A>C c.*677A>C (n.*677A>C) c.4421A>C (p.Asn1474Thr) n.9601A>C n.3066A>C c.5261A>C (p.Asn1754Thr) c.5345A>C (p.Asn1782Thr) c.5393A>C (p.Asn1798Thr) c.4367A>C (p.Asn1456Thr) c.3948A>C c.3509A>C (p.Asn1170Thr) c.*1326A>C (n.*1326A>C) c.4662A>C c.5435A>C (p.Asn1812Thr) c.5432A>C (p.Asn1811Thr) c.5387A>C (p.Asn1796Thr) c.4511A>C (p.Asn1504Thr) c.4280A>C (p.Asn1427Thr) | |
10 | g.94298604A>G | CA377642128 | PLCE1 | c.4469A>G (p.Asn1490Ser) c.*1936A>G (n.*1936A>G) n.2128A>G n.812A>G c.*677A>G (n.*677A>G) c.4421A>G (p.Asn1474Ser) n.9601A>G n.3066A>G c.5261A>G (p.Asn1754Ser) c.5345A>G (p.Asn1782Ser) c.5393A>G (p.Asn1798Ser) c.4367A>G (p.Asn1456Ser) c.3948A>G c.3509A>G (p.Asn1170Ser) c.*1326A>G (n.*1326A>G) c.4662A>G c.5435A>G (p.Asn1812Ser) c.5432A>G (p.Asn1811Ser) c.5387A>G (p.Asn1796Ser) c.4511A>G (p.Asn1504Ser) c.4280A>G (p.Asn1427Ser) | COSMIC COSMIC COSMIC |
10 | g.94298604A>T | CA377642129 | PLCE1 | c.4469A>T (p.Asn1490Ile) c.*1936A>T (n.*1936A>T) n.2128A>T n.812A>T c.*677A>T (n.*677A>T) c.4421A>T (p.Asn1474Ile) n.9601A>T n.3066A>T c.5261A>T (p.Asn1754Ile) c.5345A>T (p.Asn1782Ile) c.5393A>T (p.Asn1798Ile) c.4367A>T (p.Asn1456Ile) c.3948A>T c.3509A>T (p.Asn1170Ile) c.*1326A>T (n.*1326A>T) c.4662A>T c.5435A>T (p.Asn1812Ile) c.5432A>T (p.Asn1811Ile) c.5387A>T (p.Asn1796Ile) c.4511A>T (p.Asn1504Ile) c.4280A>T (p.Asn1427Ile) | |
10 | g.94298605C>A | CA377642131 | PLCE1 | c.4470C>A (p.Asn1490Lys) c.*1937C>A (n.*1937C>A) n.2129C>A n.813C>A c.*678C>A (n.*678C>A) c.4422C>A (p.Asn1474Lys) n.9602C>A n.3067C>A c.5262C>A (p.Asn1754Lys) c.5346C>A (p.Asn1782Lys) c.5394C>A (p.Asn1798Lys) c.4368C>A (p.Asn1456Lys) c.3949C>A c.3510C>A (p.Asn1170Lys) c.*1327C>A (n.*1327C>A) c.4663C>A c.5436C>A (p.Asn1812Lys) c.5433C>A (p.Asn1811Lys) c.5388C>A (p.Asn1796Lys) c.4512C>A (p.Asn1504Lys) c.4281C>A (p.Asn1427Lys) | |
10 | g.94298605C>G | CA377642132 | PLCE1 | c.4470C>G (p.Asn1490Lys) c.*1937C>G (n.*1937C>G) n.2129C>G n.813C>G c.*678C>G (n.*678C>G) c.4422C>G (p.Asn1474Lys) n.9602C>G n.3067C>G c.5262C>G (p.Asn1754Lys) c.5346C>G (p.Asn1782Lys) c.5394C>G (p.Asn1798Lys) c.4368C>G (p.Asn1456Lys) c.3949C>G c.3510C>G (p.Asn1170Lys) c.*1327C>G (n.*1327C>G) c.4663C>G c.5436C>G (p.Asn1812Lys) c.5433C>G (p.Asn1811Lys) c.5388C>G (p.Asn1796Lys) c.4512C>G (p.Asn1504Lys) c.4281C>G (p.Asn1427Lys) | |
10 | g.94298605C>T | CA470986617 | PLCE1 | c.4470C>T (p.Asn1490=) c.*1937C>T (n.*1937C>T) n.2129C>T n.813C>T c.*678C>T (n.*678C>T) c.4422C>T (p.Asn1474=) n.9602C>T n.3067C>T c.5262C>T (p.Asn1754=) c.5346C>T (p.Asn1782=) c.5394C>T (p.Asn1798=) c.4368C>T (p.Asn1456=) c.3949C>T c.3510C>T (p.Asn1170=) c.*1327C>T (n.*1327C>T) c.4663C>T c.5436C>T (p.Asn1812=) c.5433C>T (p.Asn1811=) c.5388C>T (p.Asn1796=) c.4512C>T (p.Asn1504=) c.4281C>T (p.Asn1427=) | |
10 | g.94298606C>A | CA377642133 | PLCE1 | c.4471C>A (p.Pro1491Thr) c.*1938C>A (n.*1938C>A) n.2130C>A n.814C>A c.*679C>A (n.*679C>A) c.4423C>A (p.Pro1475Thr) n.9603C>A n.3068C>A c.5263C>A (p.Pro1755Thr) c.5347C>A (p.Pro1783Thr) c.5395C>A (p.Pro1799Thr) c.4369C>A (p.Pro1457Thr) c.3950C>A c.3511C>A (p.Pro1171Thr) c.*1328C>A (n.*1328C>A) c.4664C>A c.5437C>A (p.Pro1813Thr) c.5434C>A (p.Pro1812Thr) c.5389C>A (p.Pro1797Thr) c.4513C>A (p.Pro1505Thr) c.4282C>A (p.Pro1428Thr) | |
10 | g.94298606C= | CA1928998454 | PLCE1 | c.4471C= (p.Pro1491=) c.*1938C= (n.*1938C=) n.2130C= n.814C= c.*679C= (n.*679C=) c.4423C= (p.Pro1475=) n.9603C= n.3068C= c.5263C= (p.Pro1755=) c.5347C= (p.Pro1783=) c.5395C= (p.Pro1799=) c.4369C= (p.Pro1457=) c.3950C= c.3511C= (p.Pro1171=) c.*1328C= (n.*1328C=) c.4664C= c.5437C= (p.Pro1813=) c.5434C= (p.Pro1812=) c.5389C= (p.Pro1797=) c.4513C= (p.Pro1505=) c.4282C= (p.Pro1428=) | |
10 | g.94298606C>G | CA377642134 | PLCE1 | c.4471C>G (p.Pro1491Ala) c.*1938C>G (n.*1938C>G) n.2130C>G n.814C>G c.*679C>G (n.*679C>G) c.4423C>G (p.Pro1475Ala) n.9603C>G n.3068C>G c.5263C>G (p.Pro1755Ala) c.5347C>G (p.Pro1783Ala) c.5395C>G (p.Pro1799Ala) c.4369C>G (p.Pro1457Ala) c.3950C>G c.3511C>G (p.Pro1171Ala) c.*1328C>G (n.*1328C>G) c.4664C>G c.5437C>G (p.Pro1813Ala) c.5434C>G (p.Pro1812Ala) c.5389C>G (p.Pro1797Ala) c.4513C>G (p.Pro1505Ala) c.4282C>G (p.Pro1428Ala) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298606C>T | CA377642135 | PLCE1 | c.4471C>T (p.Pro1491Ser) c.*1938C>T (n.*1938C>T) n.2130C>T n.814C>T c.*679C>T (n.*679C>T) c.4423C>T (p.Pro1475Ser) n.9603C>T n.3068C>T c.5263C>T (p.Pro1755Ser) c.5347C>T (p.Pro1783Ser) c.5395C>T (p.Pro1799Ser) c.4369C>T (p.Pro1457Ser) c.3950C>T c.3511C>T (p.Pro1171Ser) c.*1328C>T (n.*1328C>T) c.4664C>T c.5437C>T (p.Pro1813Ser) c.5434C>T (p.Pro1812Ser) c.5389C>T (p.Pro1797Ser) c.4513C>T (p.Pro1505Ser) c.4282C>T (p.Pro1428Ser) | gnomAD v4 |
10 | g.94298607C>A | CA377642138 | PLCE1 | c.4472C>A (p.Pro1491Gln) c.*1939C>A (n.*1939C>A) n.2131C>A n.815C>A c.*680C>A (n.*680C>A) c.4424C>A (p.Pro1475Gln) n.9604C>A n.3069C>A c.5264C>A (p.Pro1755Gln) c.5348C>A (p.Pro1783Gln) c.5396C>A (p.Pro1799Gln) c.4370C>A (p.Pro1457Gln) c.3951C>A c.3512C>A (p.Pro1171Gln) c.*1329C>A (n.*1329C>A) c.4665C>A c.5438C>A (p.Pro1813Gln) c.5435C>A (p.Pro1812Gln) c.5390C>A (p.Pro1797Gln) c.4514C>A (p.Pro1505Gln) c.4283C>A (p.Pro1428Gln) | gnomAD v4 |
10 | g.94298607C= | CA1928998455 | PLCE1 | c.4472C= (p.Pro1491=) c.*1939C= (n.*1939C=) n.2131C= n.815C= c.*680C= (n.*680C=) c.4424C= (p.Pro1475=) n.9604C= n.3069C= c.5264C= (p.Pro1755=) c.5348C= (p.Pro1783=) c.5396C= (p.Pro1799=) c.4370C= (p.Pro1457=) c.3951C= c.3512C= (p.Pro1171=) c.*1329C= (n.*1329C=) c.4665C= c.5438C= (p.Pro1813=) c.5435C= (p.Pro1812=) c.5390C= (p.Pro1797=) c.4514C= (p.Pro1505=) c.4283C= (p.Pro1428=) | |
10 | g.94298607C>G | CA377642136 | PLCE1 | c.4472C>G (p.Pro1491Arg) c.*1939C>G (n.*1939C>G) n.2131C>G n.815C>G c.*680C>G (n.*680C>G) c.4424C>G (p.Pro1475Arg) n.9604C>G n.3069C>G c.5264C>G (p.Pro1755Arg) c.5348C>G (p.Pro1783Arg) c.5396C>G (p.Pro1799Arg) c.4370C>G (p.Pro1457Arg) c.3951C>G c.3512C>G (p.Pro1171Arg) c.*1329C>G (n.*1329C>G) c.4665C>G c.5438C>G (p.Pro1813Arg) c.5435C>G (p.Pro1812Arg) c.5390C>G (p.Pro1797Arg) c.4514C>G (p.Pro1505Arg) c.4283C>G (p.Pro1428Arg) | |
10 | g.94298607C>T | CA377642137 | PLCE1 | c.4472C>T (p.Pro1491Leu) c.*1939C>T (n.*1939C>T) n.2131C>T n.815C>T c.*680C>T (n.*680C>T) c.4424C>T (p.Pro1475Leu) n.9604C>T n.3069C>T c.5264C>T (p.Pro1755Leu) c.5348C>T (p.Pro1783Leu) c.5396C>T (p.Pro1799Leu) c.4370C>T (p.Pro1457Leu) c.3951C>T c.3512C>T (p.Pro1171Leu) c.*1329C>T (n.*1329C>T) c.4665C>T c.5438C>T (p.Pro1813Leu) c.5435C>T (p.Pro1812Leu) c.5390C>T (p.Pro1797Leu) c.4514C>T (p.Pro1505Leu) c.4283C>T (p.Pro1428Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298608G>A | CA5613351 | PLCE1 | c.4473G>A (p.Pro1491=) c.*1940G>A (n.*1940G>A) n.2132G>A n.816G>A c.*681G>A (n.*681G>A) c.4425G>A (p.Pro1475=) n.9605G>A n.3070G>A c.5265G>A (p.Pro1755=) c.5349G>A (p.Pro1783=) c.5397G>A (p.Pro1799=) c.4371G>A (p.Pro1457=) c.3952G>A c.3513G>A (p.Pro1171=) c.*1330G>A (n.*1330G>A) c.4666G>A c.5439G>A (p.Pro1813=) c.5436G>A (p.Pro1812=) c.5391G>A (p.Pro1797=) c.4515G>A (p.Pro1505=) c.4284G>A (p.Pro1428=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298608G>C | CA470986618 | PLCE1 | c.4473G>C (p.Pro1491=) c.*1940G>C (n.*1940G>C) n.2132G>C n.816G>C c.*681G>C (n.*681G>C) c.4425G>C (p.Pro1475=) n.9605G>C n.3070G>C c.5265G>C (p.Pro1755=) c.5349G>C (p.Pro1783=) c.5397G>C (p.Pro1799=) c.4371G>C (p.Pro1457=) c.3952G>C c.3513G>C (p.Pro1171=) c.*1330G>C (n.*1330G>C) c.4666G>C c.5439G>C (p.Pro1813=) c.5436G>C (p.Pro1812=) c.5391G>C (p.Pro1797=) c.4515G>C (p.Pro1505=) c.4284G>C (p.Pro1428=) | |
10 | g.94298608G= | CA1928998456 | PLCE1 | c.4473G= (p.Pro1491=) c.*1940G= (n.*1940G=) n.2132G= n.816G= c.*681G= (n.*681G=) c.4425G= (p.Pro1475=) n.9605G= n.3070G= c.5265G= (p.Pro1755=) c.5349G= (p.Pro1783=) c.5397G= (p.Pro1799=) c.4371G= (p.Pro1457=) c.3952G= c.3513G= (p.Pro1171=) c.*1330G= (n.*1330G=) c.4666G= c.5439G= (p.Pro1813=) c.5436G= (p.Pro1812=) c.5391G= (p.Pro1797=) c.4515G= (p.Pro1505=) c.4284G= (p.Pro1428=) | |
10 | g.94298608G>T | CA470986619 | PLCE1 | c.4473G>T (p.Pro1491=) c.*1940G>T (n.*1940G>T) n.2132G>T n.816G>T c.*681G>T (n.*681G>T) c.4425G>T (p.Pro1475=) n.9605G>T n.3070G>T c.5265G>T (p.Pro1755=) c.5349G>T (p.Pro1783=) c.5397G>T (p.Pro1799=) c.4371G>T (p.Pro1457=) c.3952G>T c.3513G>T (p.Pro1171=) c.*1330G>T (n.*1330G>T) c.4666G>T c.5439G>T (p.Pro1813=) c.5436G>T (p.Pro1812=) c.5391G>T (p.Pro1797=) c.4515G>T (p.Pro1505=) c.4284G>T (p.Pro1428=) | |
10 | g.94298609A>C | CA377642139 | PLCE1 | c.4474A>C (p.Asn1492His) c.*1941A>C (n.*1941A>C) n.2133A>C n.817A>C c.*682A>C (n.*682A>C) c.4426A>C (p.Asn1476His) n.9606A>C n.3071A>C c.5266A>C (p.Asn1756His) c.5350A>C (p.Asn1784His) c.5398A>C (p.Asn1800His) c.4372A>C (p.Asn1458His) c.3953A>C c.3514A>C (p.Asn1172His) c.*1331A>C (n.*1331A>C) c.4667A>C c.5440A>C (p.Asn1814His) c.5437A>C (p.Asn1813His) c.5392A>C (p.Asn1798His) c.4516A>C (p.Asn1506His) c.4285A>C (p.Asn1429His) | |
10 | g.94298609A>G | CA377642140 | PLCE1 | c.4474A>G (p.Asn1492Asp) c.*1941A>G (n.*1941A>G) n.2133A>G n.817A>G c.*682A>G (n.*682A>G) c.4426A>G (p.Asn1476Asp) n.9606A>G n.3071A>G c.5266A>G (p.Asn1756Asp) c.5350A>G (p.Asn1784Asp) c.5398A>G (p.Asn1800Asp) c.4372A>G (p.Asn1458Asp) c.3953A>G c.3514A>G (p.Asn1172Asp) c.*1331A>G (n.*1331A>G) c.4667A>G c.5440A>G (p.Asn1814Asp) c.5437A>G (p.Asn1813Asp) c.5392A>G (p.Asn1798Asp) c.4516A>G (p.Asn1506Asp) c.4285A>G (p.Asn1429Asp) | |
10 | g.94298609A>T | CA377642141 | PLCE1 | c.4474A>T (p.Asn1492Tyr) c.*1941A>T (n.*1941A>T) n.2133A>T n.817A>T c.*682A>T (n.*682A>T) c.4426A>T (p.Asn1476Tyr) n.9606A>T n.3071A>T c.5266A>T (p.Asn1756Tyr) c.5350A>T (p.Asn1784Tyr) c.5398A>T (p.Asn1800Tyr) c.4372A>T (p.Asn1458Tyr) c.3953A>T c.3514A>T (p.Asn1172Tyr) c.*1331A>T (n.*1331A>T) c.4667A>T c.5440A>T (p.Asn1814Tyr) c.5437A>T (p.Asn1813Tyr) c.5392A>T (p.Asn1798Tyr) c.4516A>T (p.Asn1506Tyr) c.4285A>T (p.Asn1429Tyr) | |
10 | g.94298610A>C | CA377642142 | PLCE1 | c.4475A>C (p.Asn1492Thr) c.*1942A>C (n.*1942A>C) n.2134A>C n.818A>C c.*683A>C (n.*683A>C) c.4427A>C (p.Asn1476Thr) n.9607A>C n.3072A>C c.5267A>C (p.Asn1756Thr) c.5351A>C (p.Asn1784Thr) c.5399A>C (p.Asn1800Thr) c.4373A>C (p.Asn1458Thr) c.3954A>C c.3515A>C (p.Asn1172Thr) c.*1332A>C (n.*1332A>C) c.4668A>C c.5441A>C (p.Asn1814Thr) c.5438A>C (p.Asn1813Thr) c.5393A>C (p.Asn1798Thr) c.4517A>C (p.Asn1506Thr) c.4286A>C (p.Asn1429Thr) | |
10 | g.94298610A>G | CA377642143 | PLCE1 | c.4475A>G (p.Asn1492Ser) c.*1942A>G (n.*1942A>G) n.2134A>G n.818A>G c.*683A>G (n.*683A>G) c.4427A>G (p.Asn1476Ser) n.9607A>G n.3072A>G c.5267A>G (p.Asn1756Ser) c.5351A>G (p.Asn1784Ser) c.5399A>G (p.Asn1800Ser) c.4373A>G (p.Asn1458Ser) c.3954A>G c.3515A>G (p.Asn1172Ser) c.*1332A>G (n.*1332A>G) c.4668A>G c.5441A>G (p.Asn1814Ser) c.5438A>G (p.Asn1813Ser) c.5393A>G (p.Asn1798Ser) c.4517A>G (p.Asn1506Ser) c.4286A>G (p.Asn1429Ser) | ClinVar |
10 | g.94298610A>T | CA377642144 | PLCE1 | c.4475A>T (p.Asn1492Ile) c.*1942A>T (n.*1942A>T) n.2134A>T n.818A>T c.*683A>T (n.*683A>T) c.4427A>T (p.Asn1476Ile) n.9607A>T n.3072A>T c.5267A>T (p.Asn1756Ile) c.5351A>T (p.Asn1784Ile) c.5399A>T (p.Asn1800Ile) c.4373A>T (p.Asn1458Ile) c.3954A>T c.3515A>T (p.Asn1172Ile) c.*1332A>T (n.*1332A>T) c.4668A>T c.5441A>T (p.Asn1814Ile) c.5438A>T (p.Asn1813Ile) c.5393A>T (p.Asn1798Ile) c.4517A>T (p.Asn1506Ile) c.4286A>T (p.Asn1429Ile) | |
10 | g.94298611C>A | CA377642145 | PLCE1 | c.4476C>A (p.Asn1492Lys) c.*1943C>A (n.*1943C>A) n.2135C>A n.819C>A c.*684C>A (n.*684C>A) c.4428C>A (p.Asn1476Lys) n.9608C>A n.3073C>A c.5268C>A (p.Asn1756Lys) c.5352C>A (p.Asn1784Lys) c.5400C>A (p.Asn1800Lys) c.4374C>A (p.Asn1458Lys) c.3955C>A c.3516C>A (p.Asn1172Lys) c.*1333C>A (n.*1333C>A) c.4669C>A c.5442C>A (p.Asn1814Lys) c.5439C>A (p.Asn1813Lys) c.5394C>A (p.Asn1798Lys) c.4518C>A (p.Asn1506Lys) c.4287C>A (p.Asn1429Lys) | |
10 | g.94298611C>G | CA377642146 | PLCE1 | c.4476C>G (p.Asn1492Lys) c.*1943C>G (n.*1943C>G) n.2135C>G n.819C>G c.*684C>G (n.*684C>G) c.4428C>G (p.Asn1476Lys) n.9608C>G n.3073C>G c.5268C>G (p.Asn1756Lys) c.5352C>G (p.Asn1784Lys) c.5400C>G (p.Asn1800Lys) c.4374C>G (p.Asn1458Lys) c.3955C>G c.3516C>G (p.Asn1172Lys) c.*1333C>G (n.*1333C>G) c.4669C>G c.5442C>G (p.Asn1814Lys) c.5439C>G (p.Asn1813Lys) c.5394C>G (p.Asn1798Lys) c.4518C>G (p.Asn1506Lys) c.4287C>G (p.Asn1429Lys) | |
10 | g.94298611C>T | CA470986620 | PLCE1 | c.4476C>T (p.Asn1492=) c.*1943C>T (n.*1943C>T) n.2135C>T n.819C>T c.*684C>T (n.*684C>T) c.4428C>T (p.Asn1476=) n.9608C>T n.3073C>T c.5268C>T (p.Asn1756=) c.5352C>T (p.Asn1784=) c.5400C>T (p.Asn1800=) c.4374C>T (p.Asn1458=) c.3955C>T c.3516C>T (p.Asn1172=) c.*1333C>T (n.*1333C>T) c.4669C>T c.5442C>T (p.Asn1814=) c.5439C>T (p.Asn1813=) c.5394C>T (p.Asn1798=) c.4518C>T (p.Asn1506=) c.4287C>T (p.Asn1429=) | |
10 | g.94298615del | CA2610239649 | PLCE1 | c.4480del (p.Leu1494SerfsTer24) c.*1947del (n.*1947del) n.2139del n.823del c.*688del (n.*688del) c.4432del (p.Leu1478SerfsTer24) n.9612del n.3077del c.5272del (p.Leu1758SerfsTer24) c.5356del (p.Leu1786SerfsTer24) c.5404del (p.Leu1802SerfsTer24) c.4378del (p.Leu1460SerfsTer24) c.3959del c.3520del (p.Leu1174SerfsTer24) c.*1337del (n.*1337del) c.4673del c.5446del (p.Leu1816SerfsTer24) c.5443del (p.Leu1815SerfsTer24) c.5398del (p.Leu1800SerfsTer24) c.4522del (p.Leu1508SerfsTer24) c.4291del (p.Leu1431SerfsTer24) | gnomAD v4 |
10 | g.94298612C>A | CA377642147 | PLCE1 | c.4477C>A (p.Pro1493Thr) c.*1944C>A (n.*1944C>A) n.2136C>A n.820C>A c.*685C>A (n.*685C>A) c.4429C>A (p.Pro1477Thr) n.9609C>A n.3074C>A c.5269C>A (p.Pro1757Thr) c.5353C>A (p.Pro1785Thr) c.5401C>A (p.Pro1801Thr) c.4375C>A (p.Pro1459Thr) c.3956C>A c.3517C>A (p.Pro1173Thr) c.*1334C>A (n.*1334C>A) c.4670C>A c.5443C>A (p.Pro1815Thr) c.5440C>A (p.Pro1814Thr) c.5395C>A (p.Pro1799Thr) c.4519C>A (p.Pro1507Thr) c.4288C>A (p.Pro1430Thr) | |
10 | g.94298612C>G | CA377642148 | PLCE1 | c.4477C>G (p.Pro1493Ala) c.*1944C>G (n.*1944C>G) n.2136C>G n.820C>G c.*685C>G (n.*685C>G) c.4429C>G (p.Pro1477Ala) n.9609C>G n.3074C>G c.5269C>G (p.Pro1757Ala) c.5353C>G (p.Pro1785Ala) c.5401C>G (p.Pro1801Ala) c.4375C>G (p.Pro1459Ala) c.3956C>G c.3517C>G (p.Pro1173Ala) c.*1334C>G (n.*1334C>G) c.4670C>G c.5443C>G (p.Pro1815Ala) c.5440C>G (p.Pro1814Ala) c.5395C>G (p.Pro1799Ala) c.4519C>G (p.Pro1507Ala) c.4288C>G (p.Pro1430Ala) | |
10 | g.94298612C>T | CA377642149 | PLCE1 | c.4477C>T (p.Pro1493Ser) c.*1944C>T (n.*1944C>T) n.2136C>T n.820C>T c.*685C>T (n.*685C>T) c.4429C>T (p.Pro1477Ser) n.9609C>T n.3074C>T c.5269C>T (p.Pro1757Ser) c.5353C>T (p.Pro1785Ser) c.5401C>T (p.Pro1801Ser) c.4375C>T (p.Pro1459Ser) c.3956C>T c.3517C>T (p.Pro1173Ser) c.*1334C>T (n.*1334C>T) c.4670C>T c.5443C>T (p.Pro1815Ser) c.5440C>T (p.Pro1814Ser) c.5395C>T (p.Pro1799Ser) c.4519C>T (p.Pro1507Ser) c.4288C>T (p.Pro1430Ser) | |
10 | g.94298613C>A | CA377642150 | PLCE1 | c.4478C>A (p.Pro1493His) c.*1945C>A (n.*1945C>A) n.2137C>A n.821C>A c.*686C>A (n.*686C>A) c.4430C>A (p.Pro1477His) n.9610C>A n.3075C>A c.5270C>A (p.Pro1757His) c.5354C>A (p.Pro1785His) c.5402C>A (p.Pro1801His) c.4376C>A (p.Pro1459His) c.3957C>A c.3518C>A (p.Pro1173His) c.*1335C>A (n.*1335C>A) c.4671C>A c.5444C>A (p.Pro1815His) c.5441C>A (p.Pro1814His) c.5396C>A (p.Pro1799His) c.4520C>A (p.Pro1507His) c.4289C>A (p.Pro1430His) | |
10 | g.94298613C>G | CA377642152 | PLCE1 | c.4478C>G (p.Pro1493Arg) c.*1945C>G (n.*1945C>G) n.2137C>G n.821C>G c.*686C>G (n.*686C>G) c.4430C>G (p.Pro1477Arg) n.9610C>G n.3075C>G c.5270C>G (p.Pro1757Arg) c.5354C>G (p.Pro1785Arg) c.5402C>G (p.Pro1801Arg) c.4376C>G (p.Pro1459Arg) c.3957C>G c.3518C>G (p.Pro1173Arg) c.*1335C>G (n.*1335C>G) c.4671C>G c.5444C>G (p.Pro1815Arg) c.5441C>G (p.Pro1814Arg) c.5396C>G (p.Pro1799Arg) c.4520C>G (p.Pro1507Arg) c.4289C>G (p.Pro1430Arg) | gnomAD v4 |
10 | g.94298613C>T | CA377642151 | PLCE1 | c.4478C>T (p.Pro1493Leu) c.*1945C>T (n.*1945C>T) n.2137C>T n.821C>T c.*686C>T (n.*686C>T) c.4430C>T (p.Pro1477Leu) n.9610C>T n.3075C>T c.5270C>T (p.Pro1757Leu) c.5354C>T (p.Pro1785Leu) c.5402C>T (p.Pro1801Leu) c.4376C>T (p.Pro1459Leu) c.3957C>T c.3518C>T (p.Pro1173Leu) c.*1335C>T (n.*1335C>T) c.4671C>T c.5444C>T (p.Pro1815Leu) c.5441C>T (p.Pro1814Leu) c.5396C>T (p.Pro1799Leu) c.4520C>T (p.Pro1507Leu) c.4289C>T (p.Pro1430Leu) | |
10 | g.94298614C>A | CA211599812 | PLCE1 | c.4479C>A (p.Pro1493=) c.*1946C>A (n.*1946C>A) n.2138C>A n.822C>A c.*687C>A (n.*687C>A) c.4431C>A (p.Pro1477=) n.9611C>A n.3076C>A c.5271C>A (p.Pro1757=) c.5355C>A (p.Pro1785=) c.5403C>A (p.Pro1801=) c.4377C>A (p.Pro1459=) c.3958C>A c.3519C>A (p.Pro1173=) c.*1336C>A (n.*1336C>A) c.4672C>A c.5445C>A (p.Pro1815=) c.5442C>A (p.Pro1814=) c.5397C>A (p.Pro1799=) c.4521C>A (p.Pro1507=) c.4290C>A (p.Pro1430=) | dbSNP |
10 | g.94298614C= | CA1928998457 | PLCE1 | c.4479C= (p.Pro1493=) c.*1946C= (n.*1946C=) n.2138C= n.822C= c.*687C= (n.*687C=) c.4431C= (p.Pro1477=) n.9611C= n.3076C= c.5271C= (p.Pro1757=) c.5355C= (p.Pro1785=) c.5403C= (p.Pro1801=) c.4377C= (p.Pro1459=) c.3958C= c.3519C= (p.Pro1173=) c.*1336C= (n.*1336C=) c.4672C= c.5445C= (p.Pro1815=) c.5442C= (p.Pro1814=) c.5397C= (p.Pro1799=) c.4521C= (p.Pro1507=) c.4290C= (p.Pro1430=) | |
10 | g.94298614C>G | CA470986621 | PLCE1 | c.4479C>G (p.Pro1493=) c.*1946C>G (n.*1946C>G) n.2138C>G n.822C>G c.*687C>G (n.*687C>G) c.4431C>G (p.Pro1477=) n.9611C>G n.3076C>G c.5271C>G (p.Pro1757=) c.5355C>G (p.Pro1785=) c.5403C>G (p.Pro1801=) c.4377C>G (p.Pro1459=) c.3958C>G c.3519C>G (p.Pro1173=) c.*1336C>G (n.*1336C>G) c.4672C>G c.5445C>G (p.Pro1815=) c.5442C>G (p.Pro1814=) c.5397C>G (p.Pro1799=) c.4521C>G (p.Pro1507=) c.4290C>G (p.Pro1430=) | |
10 | g.94298614C>T | CA470986622 | PLCE1 | c.4479C>T (p.Pro1493=) c.*1946C>T (n.*1946C>T) n.2138C>T n.822C>T c.*687C>T (n.*687C>T) c.4431C>T (p.Pro1477=) n.9611C>T n.3076C>T c.5271C>T (p.Pro1757=) c.5355C>T (p.Pro1785=) c.5403C>T (p.Pro1801=) c.4377C>T (p.Pro1459=) c.3958C>T c.3519C>T (p.Pro1173=) c.*1336C>T (n.*1336C>T) c.4672C>T c.5445C>T (p.Pro1815=) c.5442C>T (p.Pro1814=) c.5397C>T (p.Pro1799=) c.4521C>T (p.Pro1507=) c.4290C>T (p.Pro1430=) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
10 | g.94298615C>A | CA377642153 | PLCE1 | c.4480C>A (p.Leu1494Ile) c.*1947C>A (n.*1947C>A) n.2139C>A n.823C>A c.*688C>A (n.*688C>A) c.4432C>A (p.Leu1478Ile) n.9612C>A n.3077C>A c.5272C>A (p.Leu1758Ile) c.5356C>A (p.Leu1786Ile) c.5404C>A (p.Leu1802Ile) c.4378C>A (p.Leu1460Ile) c.3959C>A c.3520C>A (p.Leu1174Ile) c.*1337C>A (n.*1337C>A) c.4673C>A c.5446C>A (p.Leu1816Ile) c.5443C>A (p.Leu1815Ile) c.5398C>A (p.Leu1800Ile) c.4522C>A (p.Leu1508Ile) c.4291C>A (p.Leu1431Ile) | |
10 | g.94298615C>G | CA377642154 | PLCE1 | c.4480C>G (p.Leu1494Val) c.*1947C>G (n.*1947C>G) n.2139C>G n.823C>G c.*688C>G (n.*688C>G) c.4432C>G (p.Leu1478Val) n.9612C>G n.3077C>G c.5272C>G (p.Leu1758Val) c.5356C>G (p.Leu1786Val) c.5404C>G (p.Leu1802Val) c.4378C>G (p.Leu1460Val) c.3959C>G c.3520C>G (p.Leu1174Val) c.*1337C>G (n.*1337C>G) c.4673C>G c.5446C>G (p.Leu1816Val) c.5443C>G (p.Leu1815Val) c.5398C>G (p.Leu1800Val) c.4522C>G (p.Leu1508Val) c.4291C>G (p.Leu1431Val) | |
10 | g.94298615C>T | CA377642155 | PLCE1 | c.4480C>T (p.Leu1494Phe) c.*1947C>T (n.*1947C>T) n.2139C>T n.823C>T c.*688C>T (n.*688C>T) c.4432C>T (p.Leu1478Phe) n.9612C>T n.3077C>T c.5272C>T (p.Leu1758Phe) c.5356C>T (p.Leu1786Phe) c.5404C>T (p.Leu1802Phe) c.4378C>T (p.Leu1460Phe) c.3959C>T c.3520C>T (p.Leu1174Phe) c.*1337C>T (n.*1337C>T) c.4673C>T c.5446C>T (p.Leu1816Phe) c.5443C>T (p.Leu1815Phe) c.5398C>T (p.Leu1800Phe) c.4522C>T (p.Leu1508Phe) c.4291C>T (p.Leu1431Phe) | gnomAD v4 |
10 | g.94298616T>A | CA377642156 | PLCE1 | c.4481T>A (p.Leu1494His) c.*1948T>A (n.*1948T>A) n.2140T>A n.824T>A c.*689T>A (n.*689T>A) c.4433T>A (p.Leu1478His) n.9613T>A n.3078T>A c.5273T>A (p.Leu1758His) c.5357T>A (p.Leu1786His) c.5405T>A (p.Leu1802His) c.4379T>A (p.Leu1460His) c.3960T>A c.3521T>A (p.Leu1174His) c.*1338T>A (n.*1338T>A) c.4674T>A c.5447T>A (p.Leu1816His) c.5444T>A (p.Leu1815His) c.5399T>A (p.Leu1800His) c.4523T>A (p.Leu1508His) c.4292T>A (p.Leu1431His) | |
10 | g.94298616T>C | CA377642157 | PLCE1 | c.4481T>C (p.Leu1494Pro) c.*1948T>C (n.*1948T>C) n.2140T>C n.824T>C c.*689T>C (n.*689T>C) c.4433T>C (p.Leu1478Pro) n.9613T>C n.3078T>C c.5273T>C (p.Leu1758Pro) c.5357T>C (p.Leu1786Pro) c.5405T>C (p.Leu1802Pro) c.4379T>C (p.Leu1460Pro) c.3960T>C c.3521T>C (p.Leu1174Pro) c.*1338T>C (n.*1338T>C) c.4674T>C c.5447T>C (p.Leu1816Pro) c.5444T>C (p.Leu1815Pro) c.5399T>C (p.Leu1800Pro) c.4523T>C (p.Leu1508Pro) c.4292T>C (p.Leu1431Pro) | |
10 | g.94298616T>G | CA377642158 | PLCE1 | c.4481T>G (p.Leu1494Arg) c.*1948T>G (n.*1948T>G) n.2140T>G n.824T>G c.*689T>G (n.*689T>G) c.4433T>G (p.Leu1478Arg) n.9613T>G n.3078T>G c.5273T>G (p.Leu1758Arg) c.5357T>G (p.Leu1786Arg) c.5405T>G (p.Leu1802Arg) c.4379T>G (p.Leu1460Arg) c.3960T>G c.3521T>G (p.Leu1174Arg) c.*1338T>G (n.*1338T>G) c.4674T>G c.5447T>G (p.Leu1816Arg) c.5444T>G (p.Leu1815Arg) c.5399T>G (p.Leu1800Arg) c.4523T>G (p.Leu1508Arg) c.4292T>G (p.Leu1431Arg) | |
10 | g.94298617C>A | CA470986623 | PLCE1 | c.4482C>A (p.Leu1494=) c.*1949C>A (n.*1949C>A) n.2141C>A n.825C>A c.*690C>A (n.*690C>A) c.4434C>A (p.Leu1478=) n.9614C>A n.3079C>A c.5274C>A (p.Leu1758=) c.5358C>A (p.Leu1786=) c.5406C>A (p.Leu1802=) c.4380C>A (p.Leu1460=) c.3961C>A c.3522C>A (p.Leu1174=) c.*1339C>A (n.*1339C>A) c.4675C>A c.5448C>A (p.Leu1816=) c.5445C>A (p.Leu1815=) c.5400C>A (p.Leu1800=) c.4524C>A (p.Leu1508=) c.4293C>A (p.Leu1431=) | |
10 | g.94298617C= | CA1928998458 | PLCE1 | c.4482C= (p.Leu1494=) c.*1949C= (n.*1949C=) n.2141C= n.825C= c.*690C= (n.*690C=) c.4434C= (p.Leu1478=) n.9614C= n.3079C= c.5274C= (p.Leu1758=) c.5358C= (p.Leu1786=) c.5406C= (p.Leu1802=) c.4380C= (p.Leu1460=) c.3961C= c.3522C= (p.Leu1174=) c.*1339C= (n.*1339C=) c.4675C= c.5448C= (p.Leu1816=) c.5445C= (p.Leu1815=) c.5400C= (p.Leu1800=) c.4524C= (p.Leu1508=) c.4293C= (p.Leu1431=) | |
10 | g.94298617C>G | CA470986625 | PLCE1 | c.4482C>G (p.Leu1494=) c.*1949C>G (n.*1949C>G) n.2141C>G n.825C>G c.*690C>G (n.*690C>G) c.4434C>G (p.Leu1478=) n.9614C>G n.3079C>G c.5274C>G (p.Leu1758=) c.5358C>G (p.Leu1786=) c.5406C>G (p.Leu1802=) c.4380C>G (p.Leu1460=) c.3961C>G c.3522C>G (p.Leu1174=) c.*1339C>G (n.*1339C>G) c.4675C>G c.5448C>G (p.Leu1816=) c.5445C>G (p.Leu1815=) c.5400C>G (p.Leu1800=) c.4524C>G (p.Leu1508=) c.4293C>G (p.Leu1431=) | |
10 | g.94298617C>T | CA470986624 | PLCE1 | c.4482C>T (p.Leu1494=) c.*1949C>T (n.*1949C>T) n.2141C>T n.825C>T c.*690C>T (n.*690C>T) c.4434C>T (p.Leu1478=) n.9614C>T n.3079C>T c.5274C>T (p.Leu1758=) c.5358C>T (p.Leu1786=) c.5406C>T (p.Leu1802=) c.4380C>T (p.Leu1460=) c.3961C>T c.3522C>T (p.Leu1174=) c.*1339C>T (n.*1339C>T) c.4675C>T c.5448C>T (p.Leu1816=) c.5445C>T (p.Leu1815=) c.5400C>T (p.Leu1800=) c.4524C>T (p.Leu1508=) c.4293C>T (p.Leu1431=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298618A>C | CA377642159 | PLCE1 | c.4483A>C (p.Met1495Leu) c.*1950A>C (n.*1950A>C) n.2142A>C n.826A>C c.*691A>C (n.*691A>C) c.4435A>C (p.Met1479Leu) n.9615A>C n.3080A>C c.5275A>C (p.Met1759Leu) c.5359A>C (p.Met1787Leu) c.5407A>C (p.Met1803Leu) c.4381A>C (p.Met1461Leu) c.3962A>C c.3523A>C (p.Met1175Leu) c.*1340A>C (n.*1340A>C) c.4676A>C c.5449A>C (p.Met1817Leu) c.5446A>C (p.Met1816Leu) c.5401A>C (p.Met1801Leu) c.4525A>C (p.Met1509Leu) c.4294A>C (p.Met1432Leu) | |
10 | g.94298618A>G | CA377642160 | PLCE1 | c.4483A>G (p.Met1495Val) c.*1950A>G (n.*1950A>G) n.2142A>G n.826A>G c.*691A>G (n.*691A>G) c.4435A>G (p.Met1479Val) n.9615A>G n.3080A>G c.5275A>G (p.Met1759Val) c.5359A>G (p.Met1787Val) c.5407A>G (p.Met1803Val) c.4381A>G (p.Met1461Val) c.3962A>G c.3523A>G (p.Met1175Val) c.*1340A>G (n.*1340A>G) c.4676A>G c.5449A>G (p.Met1817Val) c.5446A>G (p.Met1816Val) c.5401A>G (p.Met1801Val) c.4525A>G (p.Met1509Val) c.4294A>G (p.Met1432Val) | gnomAD v4 |
10 | g.94298618A>T | CA377642162 | PLCE1 | c.4483A>T (p.Met1495Leu) c.*1950A>T (n.*1950A>T) n.2142A>T n.826A>T c.*691A>T (n.*691A>T) c.4435A>T (p.Met1479Leu) n.9615A>T n.3080A>T c.5275A>T (p.Met1759Leu) c.5359A>T (p.Met1787Leu) c.5407A>T (p.Met1803Leu) c.4381A>T (p.Met1461Leu) c.3962A>T c.3523A>T (p.Met1175Leu) c.*1340A>T (n.*1340A>T) c.4676A>T c.5449A>T (p.Met1817Leu) c.5446A>T (p.Met1816Leu) c.5401A>T (p.Met1801Leu) c.4525A>T (p.Met1509Leu) c.4294A>T (p.Met1432Leu) | |
10 | g.94298619T>A | CA377642165 | PLCE1 | c.4484T>A (p.Met1495Lys) c.*1951T>A (n.*1951T>A) n.2143T>A n.827T>A c.*692T>A (n.*692T>A) c.4436T>A (p.Met1479Lys) n.9616T>A n.3081T>A c.5276T>A (p.Met1759Lys) c.5360T>A (p.Met1787Lys) c.5408T>A (p.Met1803Lys) c.4382T>A (p.Met1461Lys) c.3963T>A c.3524T>A (p.Met1175Lys) c.*1341T>A (n.*1341T>A) c.4677T>A c.5450T>A (p.Met1817Lys) c.5447T>A (p.Met1816Lys) c.5402T>A (p.Met1801Lys) c.4526T>A (p.Met1509Lys) c.4295T>A (p.Met1432Lys) | |
10 | g.94298619T>C | CA377642166 | PLCE1 | c.4484T>C (p.Met1495Thr) c.*1951T>C (n.*1951T>C) n.2143T>C n.827T>C c.*692T>C (n.*692T>C) c.4436T>C (p.Met1479Thr) n.9616T>C n.3081T>C c.5276T>C (p.Met1759Thr) c.5360T>C (p.Met1787Thr) c.5408T>C (p.Met1803Thr) c.4382T>C (p.Met1461Thr) c.3963T>C c.3524T>C (p.Met1175Thr) c.*1341T>C (n.*1341T>C) c.4677T>C c.5450T>C (p.Met1817Thr) c.5447T>C (p.Met1816Thr) c.5402T>C (p.Met1801Thr) c.4526T>C (p.Met1509Thr) c.4295T>C (p.Met1432Thr) | |
10 | g.94298619T>G | CA377642167 | PLCE1 | c.4484T>G (p.Met1495Arg) c.*1951T>G (n.*1951T>G) n.2143T>G n.827T>G c.*692T>G (n.*692T>G) c.4436T>G (p.Met1479Arg) n.9616T>G n.3081T>G c.5276T>G (p.Met1759Arg) c.5360T>G (p.Met1787Arg) c.5408T>G (p.Met1803Arg) c.4382T>G (p.Met1461Arg) c.3963T>G c.3524T>G (p.Met1175Arg) c.*1341T>G (n.*1341T>G) c.4677T>G c.5450T>G (p.Met1817Arg) c.5447T>G (p.Met1816Arg) c.5402T>G (p.Met1801Arg) c.4526T>G (p.Met1509Arg) c.4295T>G (p.Met1432Arg) | |
10 | g.94298620G>A | CA5613352 | PLCE1 | c.4485G>A (p.Met1495Ile) c.*1952G>A (n.*1952G>A) n.2144G>A n.828G>A c.*693G>A (n.*693G>A) c.4437G>A (p.Met1479Ile) n.9617G>A n.3082G>A c.5277G>A (p.Met1759Ile) c.5361G>A (p.Met1787Ile) c.5409G>A (p.Met1803Ile) c.4383G>A (p.Met1461Ile) c.3964G>A c.3525G>A (p.Met1175Ile) c.*1342G>A (n.*1342G>A) c.4678G>A c.5451G>A (p.Met1817Ile) c.5448G>A (p.Met1816Ile) c.5403G>A (p.Met1801Ile) c.4527G>A (p.Met1509Ile) c.4296G>A (p.Met1432Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298620G>C | CA377642170 | PLCE1 | c.4485G>C (p.Met1495Ile) c.*1952G>C (n.*1952G>C) n.2144G>C n.828G>C c.*693G>C (n.*693G>C) c.4437G>C (p.Met1479Ile) n.9617G>C n.3082G>C c.5277G>C (p.Met1759Ile) c.5361G>C (p.Met1787Ile) c.5409G>C (p.Met1803Ile) c.4383G>C (p.Met1461Ile) c.3964G>C c.3525G>C (p.Met1175Ile) c.*1342G>C (n.*1342G>C) c.4678G>C c.5451G>C (p.Met1817Ile) c.5448G>C (p.Met1816Ile) c.5403G>C (p.Met1801Ile) c.4527G>C (p.Met1509Ile) c.4296G>C (p.Met1432Ile) | |
10 | g.94298620G= | CA1928998459 | PLCE1 | c.4485G= (p.Met1495=) c.*1952G= (n.*1952G=) n.2144G= n.828G= c.*693G= (n.*693G=) c.4437G= (p.Met1479=) n.9617G= n.3082G= c.5277G= (p.Met1759=) c.5361G= (p.Met1787=) c.5409G= (p.Met1803=) c.4383G= (p.Met1461=) c.3964G= c.3525G= (p.Met1175=) c.*1342G= (n.*1342G=) c.4678G= c.5451G= (p.Met1817=) c.5448G= (p.Met1816=) c.5403G= (p.Met1801=) c.4527G= (p.Met1509=) c.4296G= (p.Met1432=) | |
10 | g.94298620G>T | CA377642172 | PLCE1 | c.4485G>T (p.Met1495Ile) c.*1952G>T (n.*1952G>T) n.2144G>T n.828G>T c.*693G>T (n.*693G>T) c.4437G>T (p.Met1479Ile) n.9617G>T n.3082G>T c.5277G>T (p.Met1759Ile) c.5361G>T (p.Met1787Ile) c.5409G>T (p.Met1803Ile) c.4383G>T (p.Met1461Ile) c.3964G>T c.3525G>T (p.Met1175Ile) c.*1342G>T (n.*1342G>T) c.4678G>T c.5451G>T (p.Met1817Ile) c.5448G>T (p.Met1816Ile) c.5403G>T (p.Met1801Ile) c.4527G>T (p.Met1509Ile) c.4296G>T (p.Met1432Ile) | |
10 | g.94298621T>A | CA377642175 | PLCE1 | c.4486T>A (p.Phe1496Ile) c.*1953T>A (n.*1953T>A) n.2145T>A n.829T>A c.*694T>A (n.*694T>A) c.4438T>A (p.Phe1480Ile) n.9618T>A n.3083T>A c.5278T>A (p.Phe1760Ile) c.5362T>A (p.Phe1788Ile) c.5410T>A (p.Phe1804Ile) c.4384T>A (p.Phe1462Ile) c.3965T>A c.3526T>A (p.Phe1176Ile) c.*1343T>A (n.*1343T>A) c.4679T>A c.5452T>A (p.Phe1818Ile) c.5449T>A (p.Phe1817Ile) c.5404T>A (p.Phe1802Ile) c.4528T>A (p.Phe1510Ile) c.4297T>A (p.Phe1433Ile) | dbSNP |
10 | g.94298621T>C | CA377642177 | PLCE1 | c.4486T>C (p.Phe1496Leu) c.*1953T>C (n.*1953T>C) n.2145T>C n.829T>C c.*694T>C (n.*694T>C) c.4438T>C (p.Phe1480Leu) n.9618T>C n.3083T>C c.5278T>C (p.Phe1760Leu) c.5362T>C (p.Phe1788Leu) c.5410T>C (p.Phe1804Leu) c.4384T>C (p.Phe1462Leu) c.3965T>C c.3526T>C (p.Phe1176Leu) c.*1343T>C (n.*1343T>C) c.4679T>C c.5452T>C (p.Phe1818Leu) c.5449T>C (p.Phe1817Leu) c.5404T>C (p.Phe1802Leu) c.4528T>C (p.Phe1510Leu) c.4297T>C (p.Phe1433Leu) | |
10 | g.94298621T>G | CA377642179 | PLCE1 | c.4486T>G (p.Phe1496Val) c.*1953T>G (n.*1953T>G) n.2145T>G n.829T>G c.*694T>G (n.*694T>G) c.4438T>G (p.Phe1480Val) n.9618T>G n.3083T>G c.5278T>G (p.Phe1760Val) c.5362T>G (p.Phe1788Val) c.5410T>G (p.Phe1804Val) c.4384T>G (p.Phe1462Val) c.3965T>G c.3526T>G (p.Phe1176Val) c.*1343T>G (n.*1343T>G) c.4679T>G c.5452T>G (p.Phe1818Val) c.5449T>G (p.Phe1817Val) c.5404T>G (p.Phe1802Val) c.4528T>G (p.Phe1510Val) c.4297T>G (p.Phe1433Val) | gnomAD v4 |
10 | g.94298621T= | CA1928998460 | PLCE1 | c.4486T= (p.Phe1496=) c.*1953T= (n.*1953T=) n.2145T= n.829T= c.*694T= (n.*694T=) c.4438T= (p.Phe1480=) n.9618T= n.3083T= c.5278T= (p.Phe1760=) c.5362T= (p.Phe1788=) c.5410T= (p.Phe1804=) c.4384T= (p.Phe1462=) c.3965T= c.3526T= (p.Phe1176=) c.*1343T= (n.*1343T=) c.4679T= c.5452T= (p.Phe1818=) c.5449T= (p.Phe1817=) c.5404T= (p.Phe1802=) c.4528T= (p.Phe1510=) c.4297T= (p.Phe1433=) | |
10 | g.94298621_94298622del | CA2573332764 | PLCE1 | c.4486_4487del (p.Phe1496LeufsTer15) c.*1953_*1954del (n.*1953_*1954del) n.2145_2146del n.829_830del c.*694_*695del (n.*694_*695del) c.4438_4439del (p.Phe1480LeufsTer15) n.9618_9619del n.3083_3084del c.5278_5279del (p.Phe1760LeufsTer15) c.5362_5363del (p.Phe1788LeufsTer15) c.5410_5411del (p.Phe1804LeufsTer15) c.4384_4385del (p.Phe1462LeufsTer15) c.3965_3966del c.3526_3527del (p.Phe1176LeufsTer15) c.*1343_*1344del (n.*1343_*1344del) c.4679_4680del c.5452_5453del (p.Phe1818LeufsTer15) c.5449_5450del (p.Phe1817LeufsTer15) c.5404_5405del (p.Phe1802LeufsTer15) c.4528_4529del (p.Phe1510LeufsTer15) c.4297_4298del (p.Phe1433LeufsTer15) | |
10 | g.94298622T>A | CA377642182 | PLCE1 | c.4487T>A (p.Phe1496Tyr) c.*1954T>A (n.*1954T>A) n.2146T>A n.830T>A c.*695T>A (n.*695T>A) c.4439T>A (p.Phe1480Tyr) n.9619T>A n.3084T>A c.5279T>A (p.Phe1760Tyr) c.5363T>A (p.Phe1788Tyr) c.5411T>A (p.Phe1804Tyr) c.4385T>A (p.Phe1462Tyr) c.3966T>A c.3527T>A (p.Phe1176Tyr) c.*1344T>A (n.*1344T>A) c.4680T>A c.5453T>A (p.Phe1818Tyr) c.5450T>A (p.Phe1817Tyr) c.5405T>A (p.Phe1802Tyr) c.4529T>A (p.Phe1510Tyr) c.4298T>A (p.Phe1433Tyr) | |
10 | g.94298622T>C | CA377642183 | PLCE1 | c.4487T>C (p.Phe1496Ser) c.*1954T>C (n.*1954T>C) n.2146T>C n.830T>C c.*695T>C (n.*695T>C) c.4439T>C (p.Phe1480Ser) n.9619T>C n.3084T>C c.5279T>C (p.Phe1760Ser) c.5363T>C (p.Phe1788Ser) c.5411T>C (p.Phe1804Ser) c.4385T>C (p.Phe1462Ser) c.3966T>C c.3527T>C (p.Phe1176Ser) c.*1344T>C (n.*1344T>C) c.4680T>C c.5453T>C (p.Phe1818Ser) c.5450T>C (p.Phe1817Ser) c.5405T>C (p.Phe1802Ser) c.4529T>C (p.Phe1510Ser) c.4298T>C (p.Phe1433Ser) | |
10 | g.94298622T>G | CA377642185 | PLCE1 | c.4487T>G (p.Phe1496Cys) c.*1954T>G (n.*1954T>G) n.2146T>G n.830T>G c.*695T>G (n.*695T>G) c.4439T>G (p.Phe1480Cys) n.9619T>G n.3084T>G c.5279T>G (p.Phe1760Cys) c.5363T>G (p.Phe1788Cys) c.5411T>G (p.Phe1804Cys) c.4385T>G (p.Phe1462Cys) c.3966T>G c.3527T>G (p.Phe1176Cys) c.*1344T>G (n.*1344T>G) c.4680T>G c.5453T>G (p.Phe1818Cys) c.5450T>G (p.Phe1817Cys) c.5405T>G (p.Phe1802Cys) c.4529T>G (p.Phe1510Cys) c.4298T>G (p.Phe1433Cys) | |
10 | g.94298623C>A | CA377642187 | PLCE1 | c.4488C>A (p.Phe1496Leu) c.*1955C>A (n.*1955C>A) n.2147C>A n.831C>A c.*696C>A (n.*696C>A) c.4440C>A (p.Phe1480Leu) n.9620C>A n.3085C>A c.5280C>A (p.Phe1760Leu) c.5364C>A (p.Phe1788Leu) c.5412C>A (p.Phe1804Leu) c.4386C>A (p.Phe1462Leu) c.3967C>A c.3528C>A (p.Phe1176Leu) c.*1345C>A (n.*1345C>A) c.4681C>A c.5454C>A (p.Phe1818Leu) c.5451C>A (p.Phe1817Leu) c.5406C>A (p.Phe1802Leu) c.4530C>A (p.Phe1510Leu) c.4299C>A (p.Phe1433Leu) | |
10 | g.94298623C>G | CA377642188 | PLCE1 | c.4488C>G (p.Phe1496Leu) c.*1955C>G (n.*1955C>G) n.2147C>G n.831C>G c.*696C>G (n.*696C>G) c.4440C>G (p.Phe1480Leu) n.9620C>G n.3085C>G c.5280C>G (p.Phe1760Leu) c.5364C>G (p.Phe1788Leu) c.5412C>G (p.Phe1804Leu) c.4386C>G (p.Phe1462Leu) c.3967C>G c.3528C>G (p.Phe1176Leu) c.*1345C>G (n.*1345C>G) c.4681C>G c.5454C>G (p.Phe1818Leu) c.5451C>G (p.Phe1817Leu) c.5406C>G (p.Phe1802Leu) c.4530C>G (p.Phe1510Leu) c.4299C>G (p.Phe1433Leu) | |
10 | g.94298623C>T | CA470986626 | PLCE1 | c.4488C>T (p.Phe1496=) c.*1955C>T (n.*1955C>T) n.2147C>T n.831C>T c.*696C>T (n.*696C>T) c.4440C>T (p.Phe1480=) n.9620C>T n.3085C>T c.5280C>T (p.Phe1760=) c.5364C>T (p.Phe1788=) c.5412C>T (p.Phe1804=) c.4386C>T (p.Phe1462=) c.3967C>T c.3528C>T (p.Phe1176=) c.*1345C>T (n.*1345C>T) c.4681C>T c.5454C>T (p.Phe1818=) c.5451C>T (p.Phe1817=) c.5406C>T (p.Phe1802=) c.4530C>T (p.Phe1510=) c.4299C>T (p.Phe1433=) | |
10 | g.94298624T>A | CA377642190 | PLCE1 | c.4489T>A (p.Trp1497Arg) c.*1956T>A (n.*1956T>A) n.2148T>A n.832T>A c.*697T>A (n.*697T>A) c.4441T>A (p.Trp1481Arg) n.9621T>A n.3086T>A c.5281T>A (p.Trp1761Arg) c.5365T>A (p.Trp1789Arg) c.5413T>A (p.Trp1805Arg) c.4387T>A (p.Trp1463Arg) c.3968T>A c.3529T>A (p.Trp1177Arg) c.*1346T>A (n.*1346T>A) c.4682T>A c.5455T>A (p.Trp1819Arg) c.5452T>A (p.Trp1818Arg) c.5407T>A (p.Trp1803Arg) c.4531T>A (p.Trp1511Arg) c.4300T>A (p.Trp1434Arg) | |
10 | g.94298624T>C | CA211599821 | PLCE1 | c.4489T>C (p.Trp1497Arg) c.*1956T>C (n.*1956T>C) n.2148T>C n.832T>C c.*697T>C (n.*697T>C) c.4441T>C (p.Trp1481Arg) n.9621T>C n.3086T>C c.5281T>C (p.Trp1761Arg) c.5365T>C (p.Trp1789Arg) c.5413T>C (p.Trp1805Arg) c.4387T>C (p.Trp1463Arg) c.3968T>C c.3529T>C (p.Trp1177Arg) c.*1346T>C (n.*1346T>C) c.4682T>C c.5455T>C (p.Trp1819Arg) c.5452T>C (p.Trp1818Arg) c.5407T>C (p.Trp1803Arg) c.4531T>C (p.Trp1511Arg) c.4300T>C (p.Trp1434Arg) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298624T>G | CA377642193 | PLCE1 | c.4489T>G (p.Trp1497Gly) c.*1956T>G (n.*1956T>G) n.2148T>G n.832T>G c.*697T>G (n.*697T>G) c.4441T>G (p.Trp1481Gly) n.9621T>G n.3086T>G c.5281T>G (p.Trp1761Gly) c.5365T>G (p.Trp1789Gly) c.5413T>G (p.Trp1805Gly) c.4387T>G (p.Trp1463Gly) c.3968T>G c.3529T>G (p.Trp1177Gly) c.*1346T>G (n.*1346T>G) c.4682T>G c.5455T>G (p.Trp1819Gly) c.5452T>G (p.Trp1818Gly) c.5407T>G (p.Trp1803Gly) c.4531T>G (p.Trp1511Gly) c.4300T>G (p.Trp1434Gly) | |
10 | g.94298624T= | CA1928998461 | PLCE1 | c.4489T= (p.Trp1497=) c.*1956T= (n.*1956T=) n.2148T= n.832T= c.*697T= (n.*697T=) c.4441T= (p.Trp1481=) n.9621T= n.3086T= c.5281T= (p.Trp1761=) c.5365T= (p.Trp1789=) c.5413T= (p.Trp1805=) c.4387T= (p.Trp1463=) c.3968T= c.3529T= (p.Trp1177=) c.*1346T= (n.*1346T=) c.4682T= c.5455T= (p.Trp1819=) c.5452T= (p.Trp1818=) c.5407T= (p.Trp1803=) c.4531T= (p.Trp1511=) c.4300T= (p.Trp1434=) | |
10 | g.94298625G>A | CA377642199 | PLCE1 | c.4490G>A (p.Trp1497Ter) c.*1957G>A (n.*1957G>A) n.2149G>A n.833G>A c.*698G>A (n.*698G>A) c.4442G>A (p.Trp1481Ter) n.9622G>A n.3087G>A c.5282G>A (p.Trp1761Ter) c.5366G>A (p.Trp1789Ter) c.5414G>A (p.Trp1805Ter) c.4388G>A (p.Trp1463Ter) c.3969G>A c.3530G>A (p.Trp1177Ter) c.*1347G>A (n.*1347G>A) c.4683G>A c.5456G>A (p.Trp1819Ter) c.5453G>A (p.Trp1818Ter) c.5408G>A (p.Trp1803Ter) c.4532G>A (p.Trp1511Ter) c.4301G>A (p.Trp1434Ter) | |
10 | g.94298625G>C | CA377642196 | PLCE1 | c.4490G>C (p.Trp1497Ser) c.*1957G>C (n.*1957G>C) n.2149G>C n.833G>C c.*698G>C (n.*698G>C) c.4442G>C (p.Trp1481Ser) n.9622G>C n.3087G>C c.5282G>C (p.Trp1761Ser) c.5366G>C (p.Trp1789Ser) c.5414G>C (p.Trp1805Ser) c.4388G>C (p.Trp1463Ser) c.3969G>C c.3530G>C (p.Trp1177Ser) c.*1347G>C (n.*1347G>C) c.4683G>C c.5456G>C (p.Trp1819Ser) c.5453G>C (p.Trp1818Ser) c.5408G>C (p.Trp1803Ser) c.4532G>C (p.Trp1511Ser) c.4301G>C (p.Trp1434Ser) | |
10 | g.94298625G>T | CA377642194 | PLCE1 | c.4490G>T (p.Trp1497Leu) c.*1957G>T (n.*1957G>T) n.2149G>T n.833G>T c.*698G>T (n.*698G>T) c.4442G>T (p.Trp1481Leu) n.9622G>T n.3087G>T c.5282G>T (p.Trp1761Leu) c.5366G>T (p.Trp1789Leu) c.5414G>T (p.Trp1805Leu) c.4388G>T (p.Trp1463Leu) c.3969G>T c.3530G>T (p.Trp1177Leu) c.*1347G>T (n.*1347G>T) c.4683G>T c.5456G>T (p.Trp1819Leu) c.5453G>T (p.Trp1818Leu) c.5408G>T (p.Trp1803Leu) c.4532G>T (p.Trp1511Leu) c.4301G>T (p.Trp1434Leu) | |
10 | g.94298626G>A | CA377642201 | PLCE1 | c.4491G>A (p.Trp1497Ter) c.*1958G>A (n.*1958G>A) n.2150G>A n.834G>A c.*699G>A (n.*699G>A) c.4443G>A (p.Trp1481Ter) n.9623G>A n.3088G>A c.5283G>A (p.Trp1761Ter) c.5367G>A (p.Trp1789Ter) c.5415G>A (p.Trp1805Ter) c.4389G>A (p.Trp1463Ter) c.3970G>A c.3531G>A (p.Trp1177Ter) c.*1348G>A (n.*1348G>A) c.4684G>A c.5457G>A (p.Trp1819Ter) c.5454G>A (p.Trp1818Ter) c.5409G>A (p.Trp1803Ter) c.4533G>A (p.Trp1511Ter) c.4302G>A (p.Trp1434Ter) | |
10 | g.94298626G>C | CA377642205 | PLCE1 | c.4491G>C (p.Trp1497Cys) c.*1958G>C (n.*1958G>C) n.2150G>C n.834G>C c.*699G>C (n.*699G>C) c.4443G>C (p.Trp1481Cys) n.9623G>C n.3088G>C c.5283G>C (p.Trp1761Cys) c.5367G>C (p.Trp1789Cys) c.5415G>C (p.Trp1805Cys) c.4389G>C (p.Trp1463Cys) c.3970G>C c.3531G>C (p.Trp1177Cys) c.*1348G>C (n.*1348G>C) c.4684G>C c.5457G>C (p.Trp1819Cys) c.5454G>C (p.Trp1818Cys) c.5409G>C (p.Trp1803Cys) c.4533G>C (p.Trp1511Cys) c.4302G>C (p.Trp1434Cys) | |
10 | g.94298626G>T | CA377642203 | PLCE1 | c.4491G>T (p.Trp1497Cys) c.*1958G>T (n.*1958G>T) n.2150G>T n.834G>T c.*699G>T (n.*699G>T) c.4443G>T (p.Trp1481Cys) n.9623G>T n.3088G>T c.5283G>T (p.Trp1761Cys) c.5367G>T (p.Trp1789Cys) c.5415G>T (p.Trp1805Cys) c.4389G>T (p.Trp1463Cys) c.3970G>T c.3531G>T (p.Trp1177Cys) c.*1348G>T (n.*1348G>T) c.4684G>T c.5457G>T (p.Trp1819Cys) c.5454G>T (p.Trp1818Cys) c.5409G>T (p.Trp1803Cys) c.4533G>T (p.Trp1511Cys) c.4302G>T (p.Trp1434Cys) | gnomAD v4 |
10 | g.94298627C>A | CA377642207 | PLCE1 | c.4492C>A (p.Leu1498Ile) c.*1959C>A (n.*1959C>A) n.2151C>A n.835C>A c.*700C>A (n.*700C>A) c.4444C>A (p.Leu1482Ile) n.9624C>A n.3089C>A c.5284C>A (p.Leu1762Ile) c.5368C>A (p.Leu1790Ile) c.5416C>A (p.Leu1806Ile) c.4390C>A (p.Leu1464Ile) c.3971C>A c.3532C>A (p.Leu1178Ile) c.*1349C>A (n.*1349C>A) c.4685C>A c.5458C>A (p.Leu1820Ile) c.5455C>A (p.Leu1819Ile) c.5410C>A (p.Leu1804Ile) c.4534C>A (p.Leu1512Ile) c.4303C>A (p.Leu1435Ile) | |
10 | g.94298627C= | CA1928998462 | PLCE1 | c.4492C= (p.Leu1498=) c.*1959C= (n.*1959C=) n.2151C= n.835C= c.*700C= (n.*700C=) c.4444C= (p.Leu1482=) n.9624C= n.3089C= c.5284C= (p.Leu1762=) c.5368C= (p.Leu1790=) c.5416C= (p.Leu1806=) c.4390C= (p.Leu1464=) c.3971C= c.3532C= (p.Leu1178=) c.*1349C= (n.*1349C=) c.4685C= c.5458C= (p.Leu1820=) c.5455C= (p.Leu1819=) c.5410C= (p.Leu1804=) c.4534C= (p.Leu1512=) c.4303C= (p.Leu1435=) | |
10 | g.94298627C>G | CA377642209 | PLCE1 | c.4492C>G (p.Leu1498Val) c.*1959C>G (n.*1959C>G) n.2151C>G n.835C>G c.*700C>G (n.*700C>G) c.4444C>G (p.Leu1482Val) n.9624C>G n.3089C>G c.5284C>G (p.Leu1762Val) c.5368C>G (p.Leu1790Val) c.5416C>G (p.Leu1806Val) c.4390C>G (p.Leu1464Val) c.3971C>G c.3532C>G (p.Leu1178Val) c.*1349C>G (n.*1349C>G) c.4685C>G c.5458C>G (p.Leu1820Val) c.5455C>G (p.Leu1819Val) c.5410C>G (p.Leu1804Val) c.4534C>G (p.Leu1512Val) c.4303C>G (p.Leu1435Val) | dbSNP |
10 | g.94298627C>T | CA211599825 | PLCE1 | c.4492C>T (p.Leu1498Phe) c.*1959C>T (n.*1959C>T) n.2151C>T n.835C>T c.*700C>T (n.*700C>T) c.4444C>T (p.Leu1482Phe) n.9624C>T n.3089C>T c.5284C>T (p.Leu1762Phe) c.5368C>T (p.Leu1790Phe) c.5416C>T (p.Leu1806Phe) c.4390C>T (p.Leu1464Phe) c.3971C>T c.3532C>T (p.Leu1178Phe) c.*1349C>T (n.*1349C>T) c.4685C>T c.5458C>T (p.Leu1820Phe) c.5455C>T (p.Leu1819Phe) c.5410C>T (p.Leu1804Phe) c.4534C>T (p.Leu1512Phe) c.4303C>T (p.Leu1435Phe) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298628T>A | CA377642212 | PLCE1 | c.4493T>A (p.Leu1498His) c.*1960T>A (n.*1960T>A) n.2152T>A n.836T>A c.*701T>A (n.*701T>A) c.4445T>A (p.Leu1482His) n.9625T>A n.3090T>A c.5285T>A (p.Leu1762His) c.5369T>A (p.Leu1790His) c.5417T>A (p.Leu1806His) c.4391T>A (p.Leu1464His) c.3972T>A c.3533T>A (p.Leu1178His) c.*1350T>A (n.*1350T>A) c.4686T>A c.5459T>A (p.Leu1820His) c.5456T>A (p.Leu1819His) c.5411T>A (p.Leu1804His) c.4535T>A (p.Leu1512His) c.4304T>A (p.Leu1435His) | |
10 | g.94298628T>C | CA5613353 | PLCE1 | c.4493T>C (p.Leu1498Pro) c.*1960T>C (n.*1960T>C) n.2152T>C n.836T>C c.*701T>C (n.*701T>C) c.4445T>C (p.Leu1482Pro) n.9625T>C n.3090T>C c.5285T>C (p.Leu1762Pro) c.5369T>C (p.Leu1790Pro) c.5417T>C (p.Leu1806Pro) c.4391T>C (p.Leu1464Pro) c.3972T>C c.3533T>C (p.Leu1178Pro) c.*1350T>C (n.*1350T>C) c.4686T>C c.5459T>C (p.Leu1820Pro) c.5456T>C (p.Leu1819Pro) c.5411T>C (p.Leu1804Pro) c.4535T>C (p.Leu1512Pro) c.4304T>C (p.Leu1435Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298628T>G | CA377642213 | PLCE1 | c.4493T>G (p.Leu1498Arg) c.*1960T>G (n.*1960T>G) n.2152T>G n.836T>G c.*701T>G (n.*701T>G) c.4445T>G (p.Leu1482Arg) n.9625T>G n.3090T>G c.5285T>G (p.Leu1762Arg) c.5369T>G (p.Leu1790Arg) c.5417T>G (p.Leu1806Arg) c.4391T>G (p.Leu1464Arg) c.3972T>G c.3533T>G (p.Leu1178Arg) c.*1350T>G (n.*1350T>G) c.4686T>G c.5459T>G (p.Leu1820Arg) c.5456T>G (p.Leu1819Arg) c.5411T>G (p.Leu1804Arg) c.4535T>G (p.Leu1512Arg) c.4304T>G (p.Leu1435Arg) | |
10 | g.94298628T= | CA1928998463 | PLCE1 | c.4493T= (p.Leu1498=) c.*1960T= (n.*1960T=) n.2152T= n.836T= c.*701T= (n.*701T=) c.4445T= (p.Leu1482=) n.9625T= n.3090T= c.5285T= (p.Leu1762=) c.5369T= (p.Leu1790=) c.5417T= (p.Leu1806=) c.4391T= (p.Leu1464=) c.3972T= c.3533T= (p.Leu1178=) c.*1350T= (n.*1350T=) c.4686T= c.5459T= (p.Leu1820=) c.5456T= (p.Leu1819=) c.5411T= (p.Leu1804=) c.4535T= (p.Leu1512=) c.4304T= (p.Leu1435=) | |
10 | g.94298629C>A | CA470986627 | PLCE1 | c.4494C>A (p.Leu1498=) c.*1961C>A (n.*1961C>A) n.2153C>A n.837C>A c.*702C>A (n.*702C>A) c.4446C>A (p.Leu1482=) n.9626C>A n.3091C>A c.5286C>A (p.Leu1762=) c.5370C>A (p.Leu1790=) c.5418C>A (p.Leu1806=) c.4392C>A (p.Leu1464=) c.3973C>A c.3534C>A (p.Leu1178=) c.*1351C>A (n.*1351C>A) c.4687C>A c.5460C>A (p.Leu1820=) c.5457C>A (p.Leu1819=) c.5412C>A (p.Leu1804=) c.4536C>A (p.Leu1512=) c.4305C>A (p.Leu1435=) | |
10 | g.94298629C>G | CA470986628 | PLCE1 | c.4494C>G (p.Leu1498=) c.*1961C>G (n.*1961C>G) n.2153C>G n.837C>G c.*702C>G (n.*702C>G) c.4446C>G (p.Leu1482=) n.9626C>G n.3091C>G c.5286C>G (p.Leu1762=) c.5370C>G (p.Leu1790=) c.5418C>G (p.Leu1806=) c.4392C>G (p.Leu1464=) c.3973C>G c.3534C>G (p.Leu1178=) c.*1351C>G (n.*1351C>G) c.4687C>G c.5460C>G (p.Leu1820=) c.5457C>G (p.Leu1819=) c.5412C>G (p.Leu1804=) c.4536C>G (p.Leu1512=) c.4305C>G (p.Leu1435=) | |
10 | g.94298629C>T | CA470986629 | PLCE1 | c.4494C>T (p.Leu1498=) c.*1961C>T (n.*1961C>T) n.2153C>T n.837C>T c.*702C>T (n.*702C>T) c.4446C>T (p.Leu1482=) n.9626C>T n.3091C>T c.5286C>T (p.Leu1762=) c.5370C>T (p.Leu1790=) c.5418C>T (p.Leu1806=) c.4392C>T (p.Leu1464=) c.3973C>T c.3534C>T (p.Leu1178=) c.*1351C>T (n.*1351C>T) c.4687C>T c.5460C>T (p.Leu1820=) c.5457C>T (p.Leu1819=) c.5412C>T (p.Leu1804=) c.4536C>T (p.Leu1512=) c.4305C>T (p.Leu1435=) | |
10 | g.94298630C>A | CA377642214 | PLCE1 | c.4495C>A (p.His1499Asn) c.*1962C>A (n.*1962C>A) n.2154C>A n.838C>A c.*703C>A (n.*703C>A) c.4447C>A (p.His1483Asn) n.9627C>A n.3092C>A c.5287C>A (p.His1763Asn) c.5371C>A (p.His1791Asn) c.5419C>A (p.His1807Asn) c.4393C>A (p.His1465Asn) c.3974C>A c.3535C>A (p.His1179Asn) c.*1352C>A (n.*1352C>A) c.4688C>A c.5461C>A (p.His1821Asn) c.5458C>A (p.His1820Asn) c.5413C>A (p.His1805Asn) c.4537C>A (p.His1513Asn) c.4306C>A (p.His1436Asn) | |
10 | g.94298630C= | CA1928998464 | PLCE1 | c.4495C= (p.His1499=) c.*1962C= (n.*1962C=) n.2154C= n.838C= c.*703C= (n.*703C=) c.4447C= (p.His1483=) n.9627C= n.3092C= c.5287C= (p.His1763=) c.5371C= (p.His1791=) c.5419C= (p.His1807=) c.4393C= (p.His1465=) c.3974C= c.3535C= (p.His1179=) c.*1352C= (n.*1352C=) c.4688C= c.5461C= (p.His1821=) c.5458C= (p.His1820=) c.5413C= (p.His1805=) c.4537C= (p.His1513=) c.4306C= (p.His1436=) | |
10 | g.94298630C>G | CA377642216 | PLCE1 | c.4495C>G (p.His1499Asp) c.*1962C>G (n.*1962C>G) n.2154C>G n.838C>G c.*703C>G (n.*703C>G) c.4447C>G (p.His1483Asp) n.9627C>G n.3092C>G c.5287C>G (p.His1763Asp) c.5371C>G (p.His1791Asp) c.5419C>G (p.His1807Asp) c.4393C>G (p.His1465Asp) c.3974C>G c.3535C>G (p.His1179Asp) c.*1352C>G (n.*1352C>G) c.4688C>G c.5461C>G (p.His1821Asp) c.5458C>G (p.His1820Asp) c.5413C>G (p.His1805Asp) c.4537C>G (p.His1513Asp) c.4306C>G (p.His1436Asp) | |
10 | g.94298630C>T | CA377642218 | PLCE1 | c.4495C>T (p.His1499Tyr) c.*1962C>T (n.*1962C>T) n.2154C>T n.838C>T c.*703C>T (n.*703C>T) c.4447C>T (p.His1483Tyr) n.9627C>T n.3092C>T c.5287C>T (p.His1763Tyr) c.5371C>T (p.His1791Tyr) c.5419C>T (p.His1807Tyr) c.4393C>T (p.His1465Tyr) c.3974C>T c.3535C>T (p.His1179Tyr) c.*1352C>T (n.*1352C>T) c.4688C>T c.5461C>T (p.His1821Tyr) c.5458C>T (p.His1820Tyr) c.5413C>T (p.His1805Tyr) c.4537C>T (p.His1513Tyr) c.4306C>T (p.His1436Tyr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298631A>C | CA377642221 | PLCE1 | c.4496A>C (p.His1499Pro) c.*1963A>C (n.*1963A>C) n.2155A>C n.839A>C c.*704A>C (n.*704A>C) c.4448A>C (p.His1483Pro) n.9628A>C n.3093A>C c.5288A>C (p.His1763Pro) c.5372A>C (p.His1791Pro) c.5420A>C (p.His1807Pro) c.4394A>C (p.His1465Pro) c.3975A>C c.3536A>C (p.His1179Pro) c.*1353A>C (n.*1353A>C) c.4689A>C c.5462A>C (p.His1821Pro) c.5459A>C (p.His1820Pro) c.5414A>C (p.His1805Pro) c.4538A>C (p.His1513Pro) c.4307A>C (p.His1436Pro) | |
10 | g.94298631A>G | CA377642222 | PLCE1 | c.4496A>G (p.His1499Arg) c.*1963A>G (n.*1963A>G) n.2155A>G n.839A>G c.*704A>G (n.*704A>G) c.4448A>G (p.His1483Arg) n.9628A>G n.3093A>G c.5288A>G (p.His1763Arg) c.5372A>G (p.His1791Arg) c.5420A>G (p.His1807Arg) c.4394A>G (p.His1465Arg) c.3975A>G c.3536A>G (p.His1179Arg) c.*1353A>G (n.*1353A>G) c.4689A>G c.5462A>G (p.His1821Arg) c.5459A>G (p.His1820Arg) c.5414A>G (p.His1805Arg) c.4538A>G (p.His1513Arg) c.4307A>G (p.His1436Arg) | |
10 | g.94298631A>T | CA377642224 | PLCE1 | c.4496A>T (p.His1499Leu) c.*1963A>T (n.*1963A>T) n.2155A>T n.839A>T c.*704A>T (n.*704A>T) c.4448A>T (p.His1483Leu) n.9628A>T n.3093A>T c.5288A>T (p.His1763Leu) c.5372A>T (p.His1791Leu) c.5420A>T (p.His1807Leu) c.4394A>T (p.His1465Leu) c.3975A>T c.3536A>T (p.His1179Leu) c.*1353A>T (n.*1353A>T) c.4689A>T c.5462A>T (p.His1821Leu) c.5459A>T (p.His1820Leu) c.5414A>T (p.His1805Leu) c.4538A>T (p.His1513Leu) c.4307A>T (p.His1436Leu) | |
10 | g.94298632T>A | CA377642227 | PLCE1 | c.4497T>A (p.His1499Gln) c.*1964T>A (n.*1964T>A) n.2156T>A n.840T>A c.*705T>A (n.*705T>A) c.4449T>A (p.His1483Gln) n.9629T>A n.3094T>A c.5289T>A (p.His1763Gln) c.5373T>A (p.His1791Gln) c.5421T>A (p.His1807Gln) c.4395T>A (p.His1465Gln) c.3976T>A c.3537T>A (p.His1179Gln) c.*1354T>A (n.*1354T>A) c.4690T>A c.5463T>A (p.His1821Gln) c.5460T>A (p.His1820Gln) c.5415T>A (p.His1805Gln) c.4539T>A (p.His1513Gln) c.4308T>A (p.His1436Gln) | |
10 | g.94298632T>C | CA470986630 | PLCE1 | c.4497T>C (p.His1499=) c.*1964T>C (n.*1964T>C) n.2156T>C n.840T>C c.*705T>C (n.*705T>C) c.4449T>C (p.His1483=) n.9629T>C n.3094T>C c.5289T>C (p.His1763=) c.5373T>C (p.His1791=) c.5421T>C (p.His1807=) c.4395T>C (p.His1465=) c.3976T>C c.3537T>C (p.His1179=) c.*1354T>C (n.*1354T>C) c.4690T>C c.5463T>C (p.His1821=) c.5460T>C (p.His1820=) c.5415T>C (p.His1805=) c.4539T>C (p.His1513=) c.4308T>C (p.His1436=) | |
10 | g.94298632T>G | CA377642225 | PLCE1 | c.4497T>G (p.His1499Gln) c.*1964T>G (n.*1964T>G) n.2156T>G n.840T>G c.*705T>G (n.*705T>G) c.4449T>G (p.His1483Gln) n.9629T>G n.3094T>G c.5289T>G (p.His1763Gln) c.5373T>G (p.His1791Gln) c.5421T>G (p.His1807Gln) c.4395T>G (p.His1465Gln) c.3976T>G c.3537T>G (p.His1179Gln) c.*1354T>G (n.*1354T>G) c.4690T>G c.5463T>G (p.His1821Gln) c.5460T>G (p.His1820Gln) c.5415T>G (p.His1805Gln) c.4539T>G (p.His1513Gln) c.4308T>G (p.His1436Gln) | |
10 | g.94298633G>A | CA377642229 | PLCE1 | c.4498G>A (p.Gly1500Arg) c.*1965G>A (n.*1965G>A) n.2157G>A n.841G>A c.*706G>A (n.*706G>A) c.4450G>A (p.Gly1484Arg) n.9630G>A n.3095G>A c.5290G>A (p.Gly1764Arg) c.5374G>A (p.Gly1792Arg) c.5422G>A (p.Gly1808Arg) c.4396G>A (p.Gly1466Arg) c.3977G>A c.3538G>A (p.Gly1180Arg) c.*1355G>A (n.*1355G>A) c.4691G>A c.5464G>A (p.Gly1822Arg) c.5461G>A (p.Gly1821Arg) c.5416G>A (p.Gly1806Arg) c.4540G>A (p.Gly1514Arg) c.4309G>A (p.Gly1437Arg) | |
10 | g.94298633G>C | CA377642231 | PLCE1 | c.4498G>C (p.Gly1500Arg) c.*1965G>C (n.*1965G>C) n.2157G>C n.841G>C c.*706G>C (n.*706G>C) c.4450G>C (p.Gly1484Arg) n.9630G>C n.3095G>C c.5290G>C (p.Gly1764Arg) c.5374G>C (p.Gly1792Arg) c.5422G>C (p.Gly1808Arg) c.4396G>C (p.Gly1466Arg) c.3977G>C c.3538G>C (p.Gly1180Arg) c.*1355G>C (n.*1355G>C) c.4691G>C c.5464G>C (p.Gly1822Arg) c.5461G>C (p.Gly1821Arg) c.5416G>C (p.Gly1806Arg) c.4540G>C (p.Gly1514Arg) c.4309G>C (p.Gly1437Arg) | |
10 | g.94298633G= | CA1928998465 | PLCE1 | c.4498G= (p.Gly1500=) c.*1965G= (n.*1965G=) n.2157G= n.841G= c.*706G= (n.*706G=) c.4450G= (p.Gly1484=) n.9630G= n.3095G= c.5290G= (p.Gly1764=) c.5374G= (p.Gly1792=) c.5422G= (p.Gly1808=) c.4396G= (p.Gly1466=) c.3977G= c.3538G= (p.Gly1180=) c.*1355G= (n.*1355G=) c.4691G= c.5464G= (p.Gly1822=) c.5461G= (p.Gly1821=) c.5416G= (p.Gly1806=) c.4540G= (p.Gly1514=) c.4309G= (p.Gly1437=) | |
10 | g.94298633G>T | CA377642233 | PLCE1 | c.4498G>T (p.Gly1500Trp) c.*1965G>T (n.*1965G>T) n.2157G>T n.841G>T c.*706G>T (n.*706G>T) c.4450G>T (p.Gly1484Trp) n.9630G>T n.3095G>T c.5290G>T (p.Gly1764Trp) c.5374G>T (p.Gly1792Trp) c.5422G>T (p.Gly1808Trp) c.4396G>T (p.Gly1466Trp) c.3977G>T c.3538G>T (p.Gly1180Trp) c.*1355G>T (n.*1355G>T) c.4691G>T c.5464G>T (p.Gly1822Trp) c.5461G>T (p.Gly1821Trp) c.5416G>T (p.Gly1806Trp) c.4540G>T (p.Gly1514Trp) c.4309G>T (p.Gly1437Trp) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298634G>A | CA377642236 | PLCE1 | c.4499G>A (p.Gly1500Glu) c.*1966G>A (n.*1966G>A) n.2158G>A n.842G>A c.*707G>A (n.*707G>A) c.4451G>A (p.Gly1484Glu) n.9631G>A n.3096G>A c.5291G>A (p.Gly1764Glu) c.5375G>A (p.Gly1792Glu) c.5423G>A (p.Gly1808Glu) c.4397G>A (p.Gly1466Glu) c.3978G>A c.3539G>A (p.Gly1180Glu) c.*1356G>A (n.*1356G>A) c.4692G>A c.5465G>A (p.Gly1822Glu) c.5462G>A (p.Gly1821Glu) c.5417G>A (p.Gly1806Glu) c.4541G>A (p.Gly1514Glu) c.4310G>A (p.Gly1437Glu) | |
10 | g.94298634G>C | CA377642237 | PLCE1 | c.4499G>C (p.Gly1500Ala) c.*1966G>C (n.*1966G>C) n.2158G>C n.842G>C c.*707G>C (n.*707G>C) c.4451G>C (p.Gly1484Ala) n.9631G>C n.3096G>C c.5291G>C (p.Gly1764Ala) c.5375G>C (p.Gly1792Ala) c.5423G>C (p.Gly1808Ala) c.4397G>C (p.Gly1466Ala) c.3978G>C c.3539G>C (p.Gly1180Ala) c.*1356G>C (n.*1356G>C) c.4692G>C c.5465G>C (p.Gly1822Ala) c.5462G>C (p.Gly1821Ala) c.5417G>C (p.Gly1806Ala) c.4541G>C (p.Gly1514Ala) c.4310G>C (p.Gly1437Ala) | |
10 | g.94298634G>T | CA377642239 | PLCE1 | c.4499G>T (p.Gly1500Val) c.*1966G>T (n.*1966G>T) n.2158G>T n.842G>T c.*707G>T (n.*707G>T) c.4451G>T (p.Gly1484Val) n.9631G>T n.3096G>T c.5291G>T (p.Gly1764Val) c.5375G>T (p.Gly1792Val) c.5423G>T (p.Gly1808Val) c.4397G>T (p.Gly1466Val) c.3978G>T c.3539G>T (p.Gly1180Val) c.*1356G>T (n.*1356G>T) c.4692G>T c.5465G>T (p.Gly1822Val) c.5462G>T (p.Gly1821Val) c.5417G>T (p.Gly1806Val) c.4541G>T (p.Gly1514Val) c.4310G>T (p.Gly1437Val) | |
10 | g.94298635G>A | CA470986631 | PLCE1 | c.4500G>A (p.Gly1500=) c.*1967G>A (n.*1967G>A) n.2159G>A n.843G>A c.*708G>A (n.*708G>A) c.4452G>A (p.Gly1484=) n.9632G>A n.3097G>A c.5292G>A (p.Gly1764=) c.5376G>A (p.Gly1792=) c.5424G>A (p.Gly1808=) c.4398G>A (p.Gly1466=) c.3979G>A c.3540G>A (p.Gly1180=) c.*1357G>A (n.*1357G>A) c.4693G>A c.5466G>A (p.Gly1822=) c.5463G>A (p.Gly1821=) c.5418G>A (p.Gly1806=) c.4542G>A (p.Gly1514=) c.4311G>A (p.Gly1437=) | gnomAD v4 |
10 | g.94298635G>C | CA5613354 | PLCE1 | c.4500G>C (p.Gly1500=) c.*1967G>C (n.*1967G>C) n.2159G>C n.843G>C c.*708G>C (n.*708G>C) c.4452G>C (p.Gly1484=) n.9632G>C n.3097G>C c.5292G>C (p.Gly1764=) c.5376G>C (p.Gly1792=) c.5424G>C (p.Gly1808=) c.4398G>C (p.Gly1466=) c.3979G>C c.3540G>C (p.Gly1180=) c.*1357G>C (n.*1357G>C) c.4693G>C c.5466G>C (p.Gly1822=) c.5463G>C (p.Gly1821=) c.5418G>C (p.Gly1806=) c.4542G>C (p.Gly1514=) c.4311G>C (p.Gly1437=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298635G= | CA1928998466 | PLCE1 | c.4500G= (p.Gly1500=) c.*1967G= (n.*1967G=) n.2159G= n.843G= c.*708G= (n.*708G=) c.4452G= (p.Gly1484=) n.9632G= n.3097G= c.5292G= (p.Gly1764=) c.5376G= (p.Gly1792=) c.5424G= (p.Gly1808=) c.4398G= (p.Gly1466=) c.3979G= c.3540G= (p.Gly1180=) c.*1357G= (n.*1357G=) c.4693G= c.5466G= (p.Gly1822=) c.5463G= (p.Gly1821=) c.5418G= (p.Gly1806=) c.4542G= (p.Gly1514=) c.4311G= (p.Gly1437=) | |
10 | g.94298635G>T | CA470986632 | PLCE1 | c.4500G>T (p.Gly1500=) c.*1967G>T (n.*1967G>T) n.2159G>T n.843G>T c.*708G>T (n.*708G>T) c.4452G>T (p.Gly1484=) n.9632G>T n.3097G>T c.5292G>T (p.Gly1764=) c.5376G>T (p.Gly1792=) c.5424G>T (p.Gly1808=) c.4398G>T (p.Gly1466=) c.3979G>T c.3540G>T (p.Gly1180=) c.*1357G>T (n.*1357G>T) c.4693G>T c.5466G>T (p.Gly1822=) c.5463G>T (p.Gly1821=) c.5418G>T (p.Gly1806=) c.4542G>T (p.Gly1514=) c.4311G>T (p.Gly1437=) | |
10 | g.94298636A>C | CA377642242 | PLCE1 | c.4501A>C (p.Ile1501Leu) c.*1968A>C (n.*1968A>C) n.2160A>C n.844A>C c.*709A>C (n.*709A>C) c.4453A>C (p.Ile1485Leu) n.9633A>C n.3098A>C c.5293A>C (p.Ile1765Leu) c.5377A>C (p.Ile1793Leu) c.5425A>C (p.Ile1809Leu) c.4399A>C (p.Ile1467Leu) c.3980A>C c.3541A>C (p.Ile1181Leu) c.*1358A>C (n.*1358A>C) c.4694A>C c.5467A>C (p.Ile1823Leu) c.5464A>C (p.Ile1822Leu) c.5419A>C (p.Ile1807Leu) c.4543A>C (p.Ile1515Leu) c.4312A>C (p.Ile1438Leu) | |
10 | g.94298636A>G | CA377642246 | PLCE1 | c.4501A>G (p.Ile1501Val) c.*1968A>G (n.*1968A>G) n.2160A>G n.844A>G c.*709A>G (n.*709A>G) c.4453A>G (p.Ile1485Val) n.9633A>G n.3098A>G c.5293A>G (p.Ile1765Val) c.5377A>G (p.Ile1793Val) c.5425A>G (p.Ile1809Val) c.4399A>G (p.Ile1467Val) c.3980A>G c.3541A>G (p.Ile1181Val) c.*1358A>G (n.*1358A>G) c.4694A>G c.5467A>G (p.Ile1823Val) c.5464A>G (p.Ile1822Val) c.5419A>G (p.Ile1807Val) c.4543A>G (p.Ile1515Val) c.4312A>G (p.Ile1438Val) | |
10 | g.94298636A>T | CA377642244 | PLCE1 | c.4501A>T (p.Ile1501Leu) c.*1968A>T (n.*1968A>T) n.2160A>T n.844A>T c.*709A>T (n.*709A>T) c.4453A>T (p.Ile1485Leu) n.9633A>T n.3098A>T c.5293A>T (p.Ile1765Leu) c.5377A>T (p.Ile1793Leu) c.5425A>T (p.Ile1809Leu) c.4399A>T (p.Ile1467Leu) c.3980A>T c.3541A>T (p.Ile1181Leu) c.*1358A>T (n.*1358A>T) c.4694A>T c.5467A>T (p.Ile1823Leu) c.5464A>T (p.Ile1822Leu) c.5419A>T (p.Ile1807Leu) c.4543A>T (p.Ile1515Leu) c.4312A>T (p.Ile1438Leu) | |
10 | g.94298637_94298640dup | CA2610239651 | PLCE1 | c.4502_4505dup (p.Gln1502HisfsTer11) c.*1969_*1972dup (n.*1969_*1972dup) n.2161_2164dup n.845_848dup c.*710_*713dup (n.*710_*713dup) c.4454_4457dup (p.Gln1486HisfsTer11) n.9634_9637dup n.3099_3102dup c.5294_5297dup (p.Gln1766HisfsTer11) c.5378_5381dup (p.Gln1794HisfsTer11) c.5426_5429dup (p.Gln1810HisfsTer11) c.4400_4403dup (p.Gln1468HisfsTer11) c.3981_3984dup c.3542_3545dup (p.Gln1182HisfsTer11) c.*1359_*1362dup (n.*1359_*1362dup) c.4695_4698dup c.5468_5471dup (p.Gln1824HisfsTer11) c.5465_5468dup (p.Gln1823HisfsTer11) c.5420_5423dup (p.Gln1808HisfsTer11) c.4544_4547dup (p.Gln1516HisfsTer11) c.4313_4316dup (p.Gln1439HisfsTer11) | gnomAD v4 |
10 | g.94298637T>A | CA377642249 | PLCE1 | c.4502T>A (p.Ile1501Lys) c.*1969T>A (n.*1969T>A) n.2161T>A n.845T>A c.*710T>A (n.*710T>A) c.4454T>A (p.Ile1485Lys) n.9634T>A n.3099T>A c.5294T>A (p.Ile1765Lys) c.5378T>A (p.Ile1793Lys) c.5426T>A (p.Ile1809Lys) c.4400T>A (p.Ile1467Lys) c.3981T>A c.3542T>A (p.Ile1181Lys) c.*1359T>A (n.*1359T>A) c.4695T>A c.5468T>A (p.Ile1823Lys) c.5465T>A (p.Ile1822Lys) c.5420T>A (p.Ile1807Lys) c.4544T>A (p.Ile1515Lys) c.4313T>A (p.Ile1438Lys) | |
10 | g.94298637T>C | CA377642251 | PLCE1 | c.4502T>C (p.Ile1501Thr) c.*1969T>C (n.*1969T>C) n.2161T>C n.845T>C c.*710T>C (n.*710T>C) c.4454T>C (p.Ile1485Thr) n.9634T>C n.3099T>C c.5294T>C (p.Ile1765Thr) c.5378T>C (p.Ile1793Thr) c.5426T>C (p.Ile1809Thr) c.4400T>C (p.Ile1467Thr) c.3981T>C c.3542T>C (p.Ile1181Thr) c.*1359T>C (n.*1359T>C) c.4695T>C c.5468T>C (p.Ile1823Thr) c.5465T>C (p.Ile1822Thr) c.5420T>C (p.Ile1807Thr) c.4544T>C (p.Ile1515Thr) c.4313T>C (p.Ile1438Thr) | |
10 | g.94298637T>G | CA377642253 | PLCE1 | c.4502T>G (p.Ile1501Arg) c.*1969T>G (n.*1969T>G) n.2161T>G n.845T>G c.*710T>G (n.*710T>G) c.4454T>G (p.Ile1485Arg) n.9634T>G n.3099T>G c.5294T>G (p.Ile1765Arg) c.5378T>G (p.Ile1793Arg) c.5426T>G (p.Ile1809Arg) c.4400T>G (p.Ile1467Arg) c.3981T>G c.3542T>G (p.Ile1181Arg) c.*1359T>G (n.*1359T>G) c.4695T>G c.5468T>G (p.Ile1823Arg) c.5465T>G (p.Ile1822Arg) c.5420T>G (p.Ile1807Arg) c.4544T>G (p.Ile1515Arg) c.4313T>G (p.Ile1438Arg) | |
10 | g.94298638A>C | CA470986633 | PLCE1 | c.4503A>C (p.Ile1501=) c.*1970A>C (n.*1970A>C) n.2162A>C n.846A>C c.*711A>C (n.*711A>C) c.4455A>C (p.Ile1485=) n.9635A>C n.3100A>C c.5295A>C (p.Ile1765=) c.5379A>C (p.Ile1793=) c.5427A>C (p.Ile1809=) c.4401A>C (p.Ile1467=) c.3982A>C c.3543A>C (p.Ile1181=) c.*1360A>C (n.*1360A>C) c.4696A>C c.5469A>C (p.Ile1823=) c.5466A>C (p.Ile1822=) c.5421A>C (p.Ile1807=) c.4545A>C (p.Ile1515=) c.4314A>C (p.Ile1438=) | |
10 | g.94298638A>G | CA377642255 | PLCE1 | c.4503A>G (p.Ile1501Met) c.*1970A>G (n.*1970A>G) n.2162A>G n.846A>G c.*711A>G (n.*711A>G) c.4455A>G (p.Ile1485Met) n.9635A>G n.3100A>G c.5295A>G (p.Ile1765Met) c.5379A>G (p.Ile1793Met) c.5427A>G (p.Ile1809Met) c.4401A>G (p.Ile1467Met) c.3982A>G c.3543A>G (p.Ile1181Met) c.*1360A>G (n.*1360A>G) c.4696A>G c.5469A>G (p.Ile1823Met) c.5466A>G (p.Ile1822Met) c.5421A>G (p.Ile1807Met) c.4545A>G (p.Ile1515Met) c.4314A>G (p.Ile1438Met) | |
10 | g.94298638A>T | CA470986634 | PLCE1 | c.4503A>T (p.Ile1501=) c.*1970A>T (n.*1970A>T) n.2162A>T n.846A>T c.*711A>T (n.*711A>T) c.4455A>T (p.Ile1485=) n.9635A>T n.3100A>T c.5295A>T (p.Ile1765=) c.5379A>T (p.Ile1793=) c.5427A>T (p.Ile1809=) c.4401A>T (p.Ile1467=) c.3982A>T c.3543A>T (p.Ile1181=) c.*1360A>T (n.*1360A>T) c.4696A>T c.5469A>T (p.Ile1823=) c.5466A>T (p.Ile1822=) c.5421A>T (p.Ile1807=) c.4545A>T (p.Ile1515=) c.4314A>T (p.Ile1438=) | |
10 | g.94298639C>A | CA377642257 | PLCE1 | c.4504C>A (p.Gln1502Lys) c.*1971C>A (n.*1971C>A) n.2163C>A n.847C>A c.*712C>A (n.*712C>A) c.4456C>A (p.Gln1486Lys) n.9636C>A n.3101C>A c.5296C>A (p.Gln1766Lys) c.5380C>A (p.Gln1794Lys) c.5428C>A (p.Gln1810Lys) c.4402C>A (p.Gln1468Lys) c.3983C>A c.3544C>A (p.Gln1182Lys) c.*1361C>A (n.*1361C>A) c.4697C>A c.5470C>A (p.Gln1824Lys) c.5467C>A (p.Gln1823Lys) c.5422C>A (p.Gln1808Lys) c.4546C>A (p.Gln1516Lys) c.4315C>A (p.Gln1439Lys) | |
10 | g.94298639C>G | CA377642259 | PLCE1 | c.4504C>G (p.Gln1502Glu) c.*1971C>G (n.*1971C>G) n.2163C>G n.847C>G c.*712C>G (n.*712C>G) c.4456C>G (p.Gln1486Glu) n.9636C>G n.3101C>G c.5296C>G (p.Gln1766Glu) c.5380C>G (p.Gln1794Glu) c.5428C>G (p.Gln1810Glu) c.4402C>G (p.Gln1468Glu) c.3983C>G c.3544C>G (p.Gln1182Glu) c.*1361C>G (n.*1361C>G) c.4697C>G c.5470C>G (p.Gln1824Glu) c.5467C>G (p.Gln1823Glu) c.5422C>G (p.Gln1808Glu) c.4546C>G (p.Gln1516Glu) c.4315C>G (p.Gln1439Glu) | |
10 | g.94298639C>T | CA377642258 | PLCE1 | c.4504C>T (p.Gln1502Ter) c.*1971C>T (n.*1971C>T) n.2163C>T n.847C>T c.*712C>T (n.*712C>T) c.4456C>T (p.Gln1486Ter) n.9636C>T n.3101C>T c.5296C>T (p.Gln1766Ter) c.5380C>T (p.Gln1794Ter) c.5428C>T (p.Gln1810Ter) c.4402C>T (p.Gln1468Ter) c.3983C>T c.3544C>T (p.Gln1182Ter) c.*1361C>T (n.*1361C>T) c.4697C>T c.5470C>T (p.Gln1824Ter) c.5467C>T (p.Gln1823Ter) c.5422C>T (p.Gln1808Ter) c.4546C>T (p.Gln1516Ter) c.4315C>T (p.Gln1439Ter) | |
10 | g.94298640A>C | CA377642262 | PLCE1 | c.4505A>C (p.Gln1502Pro) c.*1972A>C (n.*1972A>C) n.2164A>C n.848A>C c.*713A>C (n.*713A>C) c.4457A>C (p.Gln1486Pro) n.9637A>C n.3102A>C c.5297A>C (p.Gln1766Pro) c.5381A>C (p.Gln1794Pro) c.5429A>C (p.Gln1810Pro) c.4403A>C (p.Gln1468Pro) c.3984A>C c.3545A>C (p.Gln1182Pro) c.*1362A>C (n.*1362A>C) c.4698A>C c.5471A>C (p.Gln1824Pro) c.5468A>C (p.Gln1823Pro) c.5423A>C (p.Gln1808Pro) c.4547A>C (p.Gln1516Pro) c.4316A>C (p.Gln1439Pro) | |
10 | g.94298640A>G | CA377642264 | PLCE1 | c.4505A>G (p.Gln1502Arg) c.*1972A>G (n.*1972A>G) n.2164A>G n.848A>G c.*713A>G (n.*713A>G) c.4457A>G (p.Gln1486Arg) n.9637A>G n.3102A>G c.5297A>G (p.Gln1766Arg) c.5381A>G (p.Gln1794Arg) c.5429A>G (p.Gln1810Arg) c.4403A>G (p.Gln1468Arg) c.3984A>G c.3545A>G (p.Gln1182Arg) c.*1362A>G (n.*1362A>G) c.4698A>G c.5471A>G (p.Gln1824Arg) c.5468A>G (p.Gln1823Arg) c.5423A>G (p.Gln1808Arg) c.4547A>G (p.Gln1516Arg) c.4316A>G (p.Gln1439Arg) | |
10 | g.94298640A>T | CA377642265 | PLCE1 | c.4505A>T (p.Gln1502Leu) c.*1972A>T (n.*1972A>T) n.2164A>T n.848A>T c.*713A>T (n.*713A>T) c.4457A>T (p.Gln1486Leu) n.9637A>T n.3102A>T c.5297A>T (p.Gln1766Leu) c.5381A>T (p.Gln1794Leu) c.5429A>T (p.Gln1810Leu) c.4403A>T (p.Gln1468Leu) c.3984A>T c.3545A>T (p.Gln1182Leu) c.*1362A>T (n.*1362A>T) c.4698A>T c.5471A>T (p.Gln1824Leu) c.5468A>T (p.Gln1823Leu) c.5423A>T (p.Gln1808Leu) c.4547A>T (p.Gln1516Leu) c.4316A>T (p.Gln1439Leu) | |
10 | g.94298641G>A | CA470986635 | PLCE1 | c.4506G>A (p.Gln1502=) c.*1973G>A (n.*1973G>A) n.2165G>A n.849G>A c.*714G>A (n.*714G>A) c.4458G>A (p.Gln1486=) n.9638G>A n.3103G>A c.5298G>A (p.Gln1766=) c.5382G>A (p.Gln1794=) c.5430G>A (p.Gln1810=) c.4404G>A (p.Gln1468=) c.3985G>A c.3546G>A (p.Gln1182=) c.*1363G>A (n.*1363G>A) c.4699G>A c.5472G>A (p.Gln1824=) c.5469G>A (p.Gln1823=) c.5424G>A (p.Gln1808=) c.4548G>A (p.Gln1516=) c.4317G>A (p.Gln1439=) | |
10 | g.94298641G>C | CA377642268 | PLCE1 | c.4506G>C (p.Gln1502His) c.*1973G>C (n.*1973G>C) n.2165G>C n.849G>C c.*714G>C (n.*714G>C) c.4458G>C (p.Gln1486His) n.9638G>C n.3103G>C c.5298G>C (p.Gln1766His) c.5382G>C (p.Gln1794His) c.5430G>C (p.Gln1810His) c.4404G>C (p.Gln1468His) c.3985G>C c.3546G>C (p.Gln1182His) c.*1363G>C (n.*1363G>C) c.4699G>C c.5472G>C (p.Gln1824His) c.5469G>C (p.Gln1823His) c.5424G>C (p.Gln1808His) c.4548G>C (p.Gln1516His) c.4317G>C (p.Gln1439His) | |
10 | g.94298641G>T | CA377642270 | PLCE1 | c.4506G>T (p.Gln1502His) c.*1973G>T (n.*1973G>T) n.2165G>T n.849G>T c.*714G>T (n.*714G>T) c.4458G>T (p.Gln1486His) n.9638G>T n.3103G>T c.5298G>T (p.Gln1766His) c.5382G>T (p.Gln1794His) c.5430G>T (p.Gln1810His) c.4404G>T (p.Gln1468His) c.3985G>T c.3546G>T (p.Gln1182His) c.*1363G>T (n.*1363G>T) c.4699G>T c.5472G>T (p.Gln1824His) c.5469G>T (p.Gln1823His) c.5424G>T (p.Gln1808His) c.4548G>T (p.Gln1516His) c.4317G>T (p.Gln1439His) | |
10 | g.94298642del | CA2610239652 | PLCE1 | c.4507del (p.Val1504TrpfsTer14) c.*1974del (n.*1974del) n.2166del n.850del c.*715del (n.*715del) c.4459del (p.Val1488TrpfsTer14) n.9639del n.3104del c.5299del (p.Val1768TrpfsTer14) c.5383del (p.Val1796TrpfsTer14) c.5431del (p.Val1812TrpfsTer14) c.4405del (p.Val1470TrpfsTer14) c.3986del c.3547del (p.Val1184TrpfsTer14) c.*1364del (n.*1364del) c.4700del c.5473del (p.Val1826TrpfsTer14) c.5470del (p.Val1825TrpfsTer14) c.5425del (p.Val1810TrpfsTer14) c.4549del (p.Val1518TrpfsTer14) c.4318del (p.Val1441TrpfsTer14) | gnomAD v4 |
10 | g.94298642C>A | CA377642276 | PLCE1 | c.4507C>A (p.Leu1503Ile) c.*1974C>A (n.*1974C>A) n.2166C>A n.850C>A c.*715C>A (n.*715C>A) c.4459C>A (p.Leu1487Ile) n.9639C>A n.3104C>A c.5299C>A (p.Leu1767Ile) c.5383C>A (p.Leu1795Ile) c.5431C>A (p.Leu1811Ile) c.4405C>A (p.Leu1469Ile) c.3986C>A c.3547C>A (p.Leu1183Ile) c.*1364C>A (n.*1364C>A) c.4700C>A c.5473C>A (p.Leu1825Ile) c.5470C>A (p.Leu1824Ile) c.5425C>A (p.Leu1809Ile) c.4549C>A (p.Leu1517Ile) c.4318C>A (p.Leu1440Ile) | |
10 | g.94298642C>G | CA377642274 | PLCE1 | c.4507C>G (p.Leu1503Val) c.*1974C>G (n.*1974C>G) n.2166C>G n.850C>G c.*715C>G (n.*715C>G) c.4459C>G (p.Leu1487Val) n.9639C>G n.3104C>G c.5299C>G (p.Leu1767Val) c.5383C>G (p.Leu1795Val) c.5431C>G (p.Leu1811Val) c.4405C>G (p.Leu1469Val) c.3986C>G c.3547C>G (p.Leu1183Val) c.*1364C>G (n.*1364C>G) c.4700C>G c.5473C>G (p.Leu1825Val) c.5470C>G (p.Leu1824Val) c.5425C>G (p.Leu1809Val) c.4549C>G (p.Leu1517Val) c.4318C>G (p.Leu1440Val) | |
10 | g.94298642C>T | CA377642272 | PLCE1 | c.4507C>T (p.Leu1503Phe) c.*1974C>T (n.*1974C>T) n.2166C>T n.850C>T c.*715C>T (n.*715C>T) c.4459C>T (p.Leu1487Phe) n.9639C>T n.3104C>T c.5299C>T (p.Leu1767Phe) c.5383C>T (p.Leu1795Phe) c.5431C>T (p.Leu1811Phe) c.4405C>T (p.Leu1469Phe) c.3986C>T c.3547C>T (p.Leu1183Phe) c.*1364C>T (n.*1364C>T) c.4700C>T c.5473C>T (p.Leu1825Phe) c.5470C>T (p.Leu1824Phe) c.5425C>T (p.Leu1809Phe) c.4549C>T (p.Leu1517Phe) c.4318C>T (p.Leu1440Phe) | gnomAD v4 |
10 | g.94298643T>A | CA377642279 | PLCE1 | c.4508T>A (p.Leu1503His) c.*1975T>A (n.*1975T>A) n.2167T>A n.851T>A c.*716T>A (n.*716T>A) c.4460T>A (p.Leu1487His) n.9640T>A n.3105T>A c.5300T>A (p.Leu1767His) c.5384T>A (p.Leu1795His) c.5432T>A (p.Leu1811His) c.4406T>A (p.Leu1469His) c.3987T>A c.3548T>A (p.Leu1183His) c.*1365T>A (n.*1365T>A) c.4701T>A c.5474T>A (p.Leu1825His) c.5471T>A (p.Leu1824His) c.5426T>A (p.Leu1809His) c.4550T>A (p.Leu1517His) c.4319T>A (p.Leu1440His) | |
10 | g.94298643T>C | CA377642281 | PLCE1 | c.4508T>C (p.Leu1503Pro) c.*1975T>C (n.*1975T>C) n.2167T>C n.851T>C c.*716T>C (n.*716T>C) c.4460T>C (p.Leu1487Pro) n.9640T>C n.3105T>C c.5300T>C (p.Leu1767Pro) c.5384T>C (p.Leu1795Pro) c.5432T>C (p.Leu1811Pro) c.4406T>C (p.Leu1469Pro) c.3987T>C c.3548T>C (p.Leu1183Pro) c.*1365T>C (n.*1365T>C) c.4701T>C c.5474T>C (p.Leu1825Pro) c.5471T>C (p.Leu1824Pro) c.5426T>C (p.Leu1809Pro) c.4550T>C (p.Leu1517Pro) c.4319T>C (p.Leu1440Pro) | |
10 | g.94298643T>G | CA377642282 | PLCE1 | c.4508T>G (p.Leu1503Arg) c.*1975T>G (n.*1975T>G) n.2167T>G n.851T>G c.*716T>G (n.*716T>G) c.4460T>G (p.Leu1487Arg) n.9640T>G n.3105T>G c.5300T>G (p.Leu1767Arg) c.5384T>G (p.Leu1795Arg) c.5432T>G (p.Leu1811Arg) c.4406T>G (p.Leu1469Arg) c.3987T>G c.3548T>G (p.Leu1183Arg) c.*1365T>G (n.*1365T>G) c.4701T>G c.5474T>G (p.Leu1825Arg) c.5471T>G (p.Leu1824Arg) c.5426T>G (p.Leu1809Arg) c.4550T>G (p.Leu1517Arg) c.4319T>G (p.Leu1440Arg) | |
10 | g.94298644T>A | CA470986636 | PLCE1 | c.4509T>A (p.Leu1503=) c.*1976T>A (n.*1976T>A) n.2168T>A n.852T>A c.*717T>A (n.*717T>A) c.4461T>A (p.Leu1487=) n.9641T>A n.3106T>A c.5301T>A (p.Leu1767=) c.5385T>A (p.Leu1795=) c.5433T>A (p.Leu1811=) c.4407T>A (p.Leu1469=) c.3988T>A c.3549T>A (p.Leu1183=) c.*1366T>A (n.*1366T>A) c.4702T>A c.5475T>A (p.Leu1825=) c.5472T>A (p.Leu1824=) c.5427T>A (p.Leu1809=) c.4551T>A (p.Leu1517=) c.4320T>A (p.Leu1440=) | |
10 | g.94298644T>C | CA470986637 | PLCE1 | c.4509T>C (p.Leu1503=) c.*1976T>C (n.*1976T>C) n.2168T>C n.852T>C c.*717T>C (n.*717T>C) c.4461T>C (p.Leu1487=) n.9641T>C n.3106T>C c.5301T>C (p.Leu1767=) c.5385T>C (p.Leu1795=) c.5433T>C (p.Leu1811=) c.4407T>C (p.Leu1469=) c.3988T>C c.3549T>C (p.Leu1183=) c.*1366T>C (n.*1366T>C) c.4702T>C c.5475T>C (p.Leu1825=) c.5472T>C (p.Leu1824=) c.5427T>C (p.Leu1809=) c.4551T>C (p.Leu1517=) c.4320T>C (p.Leu1440=) | dbSNP |
10 | g.94298644T>G | CA470986638 | PLCE1 | c.4509T>G (p.Leu1503=) c.*1976T>G (n.*1976T>G) n.2168T>G n.852T>G c.*717T>G (n.*717T>G) c.4461T>G (p.Leu1487=) n.9641T>G n.3106T>G c.5301T>G (p.Leu1767=) c.5385T>G (p.Leu1795=) c.5433T>G (p.Leu1811=) c.4407T>G (p.Leu1469=) c.3988T>G c.3549T>G (p.Leu1183=) c.*1366T>G (n.*1366T>G) c.4702T>G c.5475T>G (p.Leu1825=) c.5472T>G (p.Leu1824=) c.5427T>G (p.Leu1809=) c.4551T>G (p.Leu1517=) c.4320T>G (p.Leu1440=) | |
10 | g.94298645G>A | CA377642283 | PLCE1 | c.4510G>A (p.Val1504Met) c.*1977G>A (n.*1977G>A) n.2169G>A n.853G>A c.*718G>A (n.*718G>A) c.4462G>A (p.Val1488Met) n.9642G>A n.3107G>A c.5302G>A (p.Val1768Met) c.5386G>A (p.Val1796Met) c.5434G>A (p.Val1812Met) c.4408G>A (p.Val1470Met) c.3989G>A c.3550G>A (p.Val1184Met) c.*1367G>A (n.*1367G>A) c.4703G>A c.5476G>A (p.Val1826Met) c.5473G>A (p.Val1825Met) c.5428G>A (p.Val1810Met) c.4552G>A (p.Val1518Met) c.4321G>A (p.Val1441Met) | |
10 | g.94298645G>C | CA377642285 | PLCE1 | c.4510G>C (p.Val1504Leu) c.*1977G>C (n.*1977G>C) n.2169G>C n.853G>C c.*718G>C (n.*718G>C) c.4462G>C (p.Val1488Leu) n.9642G>C n.3107G>C c.5302G>C (p.Val1768Leu) c.5386G>C (p.Val1796Leu) c.5434G>C (p.Val1812Leu) c.4408G>C (p.Val1470Leu) c.3989G>C c.3550G>C (p.Val1184Leu) c.*1367G>C (n.*1367G>C) c.4703G>C c.5476G>C (p.Val1826Leu) c.5473G>C (p.Val1825Leu) c.5428G>C (p.Val1810Leu) c.4552G>C (p.Val1518Leu) c.4321G>C (p.Val1441Leu) | gnomAD v4 |
10 | g.94298645G>T | CA377642286 | PLCE1 | c.4510G>T (p.Val1504Leu) c.*1977G>T (n.*1977G>T) n.2169G>T n.853G>T c.*718G>T (n.*718G>T) c.4462G>T (p.Val1488Leu) n.9642G>T n.3107G>T c.5302G>T (p.Val1768Leu) c.5386G>T (p.Val1796Leu) c.5434G>T (p.Val1812Leu) c.4408G>T (p.Val1470Leu) c.3989G>T c.3550G>T (p.Val1184Leu) c.*1367G>T (n.*1367G>T) c.4703G>T c.5476G>T (p.Val1826Leu) c.5473G>T (p.Val1825Leu) c.5428G>T (p.Val1810Leu) c.4552G>T (p.Val1518Leu) c.4321G>T (p.Val1441Leu) | |
10 | g.94298646T>A | CA377642289 | PLCE1 | c.4511T>A (p.Val1504Glu) c.*1978T>A (n.*1978T>A) n.2170T>A n.854T>A c.*719T>A (n.*719T>A) c.4463T>A (p.Val1488Glu) n.9643T>A n.3108T>A c.5303T>A (p.Val1768Glu) c.5387T>A (p.Val1796Glu) c.5435T>A (p.Val1812Glu) c.4409T>A (p.Val1470Glu) c.3990T>A c.3551T>A (p.Val1184Glu) c.*1368T>A (n.*1368T>A) c.4704T>A c.5477T>A (p.Val1826Glu) c.5474T>A (p.Val1825Glu) c.5429T>A (p.Val1810Glu) c.4553T>A (p.Val1518Glu) c.4322T>A (p.Val1441Glu) | |
10 | g.94298646T>C | CA377642293 | PLCE1 | c.4511T>C (p.Val1504Ala) c.*1978T>C (n.*1978T>C) n.2170T>C n.854T>C c.*719T>C (n.*719T>C) c.4463T>C (p.Val1488Ala) n.9643T>C n.3108T>C c.5303T>C (p.Val1768Ala) c.5387T>C (p.Val1796Ala) c.5435T>C (p.Val1812Ala) c.4409T>C (p.Val1470Ala) c.3990T>C c.3551T>C (p.Val1184Ala) c.*1368T>C (n.*1368T>C) c.4704T>C c.5477T>C (p.Val1826Ala) c.5474T>C (p.Val1825Ala) c.5429T>C (p.Val1810Ala) c.4553T>C (p.Val1518Ala) c.4322T>C (p.Val1441Ala) | |
10 | g.94298646T>G | CA377642291 | PLCE1 | c.4511T>G (p.Val1504Gly) c.*1978T>G (n.*1978T>G) n.2170T>G n.854T>G c.*719T>G (n.*719T>G) c.4463T>G (p.Val1488Gly) n.9643T>G n.3108T>G c.5303T>G (p.Val1768Gly) c.5387T>G (p.Val1796Gly) c.5435T>G (p.Val1812Gly) c.4409T>G (p.Val1470Gly) c.3990T>G c.3551T>G (p.Val1184Gly) c.*1368T>G (n.*1368T>G) c.4704T>G c.5477T>G (p.Val1826Gly) c.5474T>G (p.Val1825Gly) c.5429T>G (p.Val1810Gly) c.4553T>G (p.Val1518Gly) c.4322T>G (p.Val1441Gly) | |
10 | g.94298647G>A | CA5613355 | PLCE1 | c.4512G>A (p.Val1504=) c.*1979G>A (n.*1979G>A) n.2171G>A n.855G>A c.*720G>A (n.*720G>A) c.4464G>A (p.Val1488=) n.9644G>A n.3109G>A c.5304G>A (p.Val1768=) c.5388G>A (p.Val1796=) c.5436G>A (p.Val1812=) c.4410G>A (p.Val1470=) c.3991G>A c.3552G>A (p.Val1184=) c.*1369G>A (n.*1369G>A) c.4705G>A c.5478G>A (p.Val1826=) c.5475G>A (p.Val1825=) c.5430G>A (p.Val1810=) c.4554G>A (p.Val1518=) c.4323G>A (p.Val1441=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298647G>C | CA470986640 | PLCE1 | c.4512G>C (p.Val1504=) c.*1979G>C (n.*1979G>C) n.2171G>C n.855G>C c.*720G>C (n.*720G>C) c.4464G>C (p.Val1488=) n.9644G>C n.3109G>C c.5304G>C (p.Val1768=) c.5388G>C (p.Val1796=) c.5436G>C (p.Val1812=) c.4410G>C (p.Val1470=) c.3991G>C c.3552G>C (p.Val1184=) c.*1369G>C (n.*1369G>C) c.4705G>C c.5478G>C (p.Val1826=) c.5475G>C (p.Val1825=) c.5430G>C (p.Val1810=) c.4554G>C (p.Val1518=) c.4323G>C (p.Val1441=) | |
10 | g.94298647G= | CA1928998467 | PLCE1 | c.4512G= (p.Val1504=) c.*1979G= (n.*1979G=) n.2171G= n.855G= c.*720G= (n.*720G=) c.4464G= (p.Val1488=) n.9644G= n.3109G= c.5304G= (p.Val1768=) c.5388G= (p.Val1796=) c.5436G= (p.Val1812=) c.4410G= (p.Val1470=) c.3991G= c.3552G= (p.Val1184=) c.*1369G= (n.*1369G=) c.4705G= c.5478G= (p.Val1826=) c.5475G= (p.Val1825=) c.5430G= (p.Val1810=) c.4554G= (p.Val1518=) c.4323G= (p.Val1441=) | |
10 | g.94298647G>T | CA470986639 | PLCE1 | c.4512G>T (p.Val1504=) c.*1979G>T (n.*1979G>T) n.2171G>T n.855G>T c.*720G>T (n.*720G>T) c.4464G>T (p.Val1488=) n.9644G>T n.3109G>T c.5304G>T (p.Val1768=) c.5388G>T (p.Val1796=) c.5436G>T (p.Val1812=) c.4410G>T (p.Val1470=) c.3991G>T c.3552G>T (p.Val1184=) c.*1369G>T (n.*1369G>T) c.4705G>T c.5478G>T (p.Val1826=) c.5475G>T (p.Val1825=) c.5430G>T (p.Val1810=) c.4554G>T (p.Val1518=) c.4323G>T (p.Val1441=) | COSMIC COSMIC COSMIC COSMIC |
10 | g.94298648G>A | CA377642296 | PLCE1 | c.4513G>A (p.Ala1505Thr) c.*1980G>A (n.*1980G>A) n.2172G>A n.856G>A c.*721G>A (n.*721G>A) c.4465G>A (p.Ala1489Thr) n.9645G>A n.3110G>A c.5305G>A (p.Ala1769Thr) c.5389G>A (p.Ala1797Thr) c.5437G>A (p.Ala1813Thr) c.4411G>A (p.Ala1471Thr) c.3992G>A c.3553G>A (p.Ala1185Thr) c.*1370G>A (n.*1370G>A) c.4706G>A c.5479G>A (p.Ala1827Thr) c.5476G>A (p.Ala1826Thr) c.5431G>A (p.Ala1811Thr) c.4555G>A (p.Ala1519Thr) c.4324G>A (p.Ala1442Thr) | |
10 | g.94298648G>C | CA377642298 | PLCE1 | c.4513G>C (p.Ala1505Pro) c.*1980G>C (n.*1980G>C) n.2172G>C n.856G>C c.*721G>C (n.*721G>C) c.4465G>C (p.Ala1489Pro) n.9645G>C n.3110G>C c.5305G>C (p.Ala1769Pro) c.5389G>C (p.Ala1797Pro) c.5437G>C (p.Ala1813Pro) c.4411G>C (p.Ala1471Pro) c.3992G>C c.3553G>C (p.Ala1185Pro) c.*1370G>C (n.*1370G>C) c.4706G>C c.5479G>C (p.Ala1827Pro) c.5476G>C (p.Ala1826Pro) c.5431G>C (p.Ala1811Pro) c.4555G>C (p.Ala1519Pro) c.4324G>C (p.Ala1442Pro) | |
10 | g.94298648G>T | CA377642300 | PLCE1 | c.4513G>T (p.Ala1505Ser) c.*1980G>T (n.*1980G>T) n.2172G>T n.856G>T c.*721G>T (n.*721G>T) c.4465G>T (p.Ala1489Ser) n.9645G>T n.3110G>T c.5305G>T (p.Ala1769Ser) c.5389G>T (p.Ala1797Ser) c.5437G>T (p.Ala1813Ser) c.4411G>T (p.Ala1471Ser) c.3992G>T c.3553G>T (p.Ala1185Ser) c.*1370G>T (n.*1370G>T) c.4706G>T c.5479G>T (p.Ala1827Ser) c.5476G>T (p.Ala1826Ser) c.5431G>T (p.Ala1811Ser) c.4555G>T (p.Ala1519Ser) c.4324G>T (p.Ala1442Ser) | |
10 | g.94298649C>A | CA377642302 | PLCE1 | c.4514C>A (p.Ala1505Glu) c.*1981C>A (n.*1981C>A) n.2173C>A n.857C>A c.*722C>A (n.*722C>A) c.4466C>A (p.Ala1489Glu) n.9646C>A n.3111C>A c.5306C>A (p.Ala1769Glu) c.5390C>A (p.Ala1797Glu) c.5438C>A (p.Ala1813Glu) c.4412C>A (p.Ala1471Glu) c.3993C>A c.3554C>A (p.Ala1185Glu) c.*1371C>A (n.*1371C>A) c.4707C>A c.5480C>A (p.Ala1827Glu) c.5477C>A (p.Ala1826Glu) c.5432C>A (p.Ala1811Glu) c.4556C>A (p.Ala1519Glu) c.4325C>A (p.Ala1442Glu) | |
10 | g.94298649C>G | CA377642304 | PLCE1 | c.4514C>G (p.Ala1505Gly) c.*1981C>G (n.*1981C>G) n.2173C>G n.857C>G c.*722C>G (n.*722C>G) c.4466C>G (p.Ala1489Gly) n.9646C>G n.3111C>G c.5306C>G (p.Ala1769Gly) c.5390C>G (p.Ala1797Gly) c.5438C>G (p.Ala1813Gly) c.4412C>G (p.Ala1471Gly) c.3993C>G c.3554C>G (p.Ala1185Gly) c.*1371C>G (n.*1371C>G) c.4707C>G c.5480C>G (p.Ala1827Gly) c.5477C>G (p.Ala1826Gly) c.5432C>G (p.Ala1811Gly) c.4556C>G (p.Ala1519Gly) c.4325C>G (p.Ala1442Gly) | |
10 | g.94298649C>T | CA377642306 | PLCE1 | c.4514C>T (p.Ala1505Val) c.*1981C>T (n.*1981C>T) n.2173C>T n.857C>T c.*722C>T (n.*722C>T) c.4466C>T (p.Ala1489Val) n.9646C>T n.3111C>T c.5306C>T (p.Ala1769Val) c.5390C>T (p.Ala1797Val) c.5438C>T (p.Ala1813Val) c.4412C>T (p.Ala1471Val) c.3993C>T c.3554C>T (p.Ala1185Val) c.*1371C>T (n.*1371C>T) c.4707C>T c.5480C>T (p.Ala1827Val) c.5477C>T (p.Ala1826Val) c.5432C>T (p.Ala1811Val) c.4556C>T (p.Ala1519Val) c.4325C>T (p.Ala1442Val) | |
10 | g.94298650A>C | CA470986196 | PLCE1 | c.4515A>C (p.Ala1505=) c.*1982A>C (n.*1982A>C) n.2174A>C n.858A>C c.*723A>C (n.*723A>C) c.4467A>C (p.Ala1489=) n.9647A>C n.3112A>C c.5307A>C (p.Ala1769=) c.5391A>C (p.Ala1797=) c.5439A>C (p.Ala1813=) c.4413A>C (p.Ala1471=) c.3994A>C c.3555A>C (p.Ala1185=) c.*1372A>C (n.*1372A>C) c.4708A>C c.5481A>C (p.Ala1827=) c.5478A>C (p.Ala1826=) c.5433A>C (p.Ala1811=) c.4557A>C (p.Ala1519=) c.4326A>C (p.Ala1442=) | |
10 | g.94298650A>G | CA470986197 | PLCE1 | c.4515A>G (p.Ala1505=) c.*1982A>G (n.*1982A>G) n.2174A>G n.858A>G c.*723A>G (n.*723A>G) c.4467A>G (p.Ala1489=) n.9647A>G n.3112A>G c.5307A>G (p.Ala1769=) c.5391A>G (p.Ala1797=) c.5439A>G (p.Ala1813=) c.4413A>G (p.Ala1471=) c.3994A>G c.3555A>G (p.Ala1185=) c.*1372A>G (n.*1372A>G) c.4708A>G c.5481A>G (p.Ala1827=) c.5478A>G (p.Ala1826=) c.5433A>G (p.Ala1811=) c.4557A>G (p.Ala1519=) c.4326A>G (p.Ala1442=) | |
10 | g.94298650A>T | CA470986199 | PLCE1 | c.4515A>T (p.Ala1505=) c.*1982A>T (n.*1982A>T) n.2174A>T n.858A>T c.*723A>T (n.*723A>T) c.4467A>T (p.Ala1489=) n.9647A>T n.3112A>T c.5307A>T (p.Ala1769=) c.5391A>T (p.Ala1797=) c.5439A>T (p.Ala1813=) c.4413A>T (p.Ala1471=) c.3994A>T c.3555A>T (p.Ala1185=) c.*1372A>T (n.*1372A>T) c.4708A>T c.5481A>T (p.Ala1827=) c.5478A>T (p.Ala1826=) c.5433A>T (p.Ala1811=) c.4557A>T (p.Ala1519=) c.4326A>T (p.Ala1442=) | |
10 | g.94298651C>A | CA377642309 | PLCE1 | c.4516C>A (p.Leu1506Ile) c.*1983C>A (n.*1983C>A) n.2175C>A n.859C>A c.*724C>A (n.*724C>A) c.4468C>A (p.Leu1490Ile) n.9648C>A n.3113C>A c.5308C>A (p.Leu1770Ile) c.5392C>A (p.Leu1798Ile) c.5440C>A (p.Leu1814Ile) c.4414C>A (p.Leu1472Ile) c.3995C>A c.3556C>A (p.Leu1186Ile) c.*1373C>A (n.*1373C>A) c.4709C>A c.5482C>A (p.Leu1828Ile) c.5479C>A (p.Leu1827Ile) c.5434C>A (p.Leu1812Ile) c.4558C>A (p.Leu1520Ile) c.4327C>A (p.Leu1443Ile) | |
10 | g.94298651C>G | CA377642310 | PLCE1 | c.4516C>G (p.Leu1506Val) c.*1983C>G (n.*1983C>G) n.2175C>G n.859C>G c.*724C>G (n.*724C>G) c.4468C>G (p.Leu1490Val) n.9648C>G n.3113C>G c.5308C>G (p.Leu1770Val) c.5392C>G (p.Leu1798Val) c.5440C>G (p.Leu1814Val) c.4414C>G (p.Leu1472Val) c.3995C>G c.3556C>G (p.Leu1186Val) c.*1373C>G (n.*1373C>G) c.4709C>G c.5482C>G (p.Leu1828Val) c.5479C>G (p.Leu1827Val) c.5434C>G (p.Leu1812Val) c.4558C>G (p.Leu1520Val) c.4327C>G (p.Leu1443Val) | gnomAD v4 |
10 | g.94298651C>T | CA377642311 | PLCE1 | c.4516C>T (p.Leu1506Phe) c.*1983C>T (n.*1983C>T) n.2175C>T n.859C>T c.*724C>T (n.*724C>T) c.4468C>T (p.Leu1490Phe) n.9648C>T n.3113C>T c.5308C>T (p.Leu1770Phe) c.5392C>T (p.Leu1798Phe) c.5440C>T (p.Leu1814Phe) c.4414C>T (p.Leu1472Phe) c.3995C>T c.3556C>T (p.Leu1186Phe) c.*1373C>T (n.*1373C>T) c.4709C>T c.5482C>T (p.Leu1828Phe) c.5479C>T (p.Leu1827Phe) c.5434C>T (p.Leu1812Phe) c.4558C>T (p.Leu1520Phe) c.4327C>T (p.Leu1443Phe) | |
10 | g.94298652T>A | CA377642313 | PLCE1 | c.4517T>A (p.Leu1506His) c.*1984T>A (n.*1984T>A) n.2176T>A n.860T>A c.*725T>A (n.*725T>A) c.4469T>A (p.Leu1490His) n.9649T>A n.3114T>A c.5309T>A (p.Leu1770His) c.5393T>A (p.Leu1798His) c.5441T>A (p.Leu1814His) c.4415T>A (p.Leu1472His) c.3996T>A c.3557T>A (p.Leu1186His) c.*1374T>A (n.*1374T>A) c.4710T>A c.5483T>A (p.Leu1828His) c.5480T>A (p.Leu1827His) c.5435T>A (p.Leu1812His) c.4559T>A (p.Leu1520His) c.4328T>A (p.Leu1443His) | |
10 | g.94298652T>C | CA377642317 | PLCE1 | c.4517T>C (p.Leu1506Pro) c.*1984T>C (n.*1984T>C) n.2176T>C n.860T>C c.*725T>C (n.*725T>C) c.4469T>C (p.Leu1490Pro) n.9649T>C n.3114T>C c.5309T>C (p.Leu1770Pro) c.5393T>C (p.Leu1798Pro) c.5441T>C (p.Leu1814Pro) c.4415T>C (p.Leu1472Pro) c.3996T>C c.3557T>C (p.Leu1186Pro) c.*1374T>C (n.*1374T>C) c.4710T>C c.5483T>C (p.Leu1828Pro) c.5480T>C (p.Leu1827Pro) c.5435T>C (p.Leu1812Pro) c.4559T>C (p.Leu1520Pro) c.4328T>C (p.Leu1443Pro) | |
10 | g.94298652T>G | CA377642315 | PLCE1 | c.4517T>G (p.Leu1506Arg) c.*1984T>G (n.*1984T>G) n.2176T>G n.860T>G c.*725T>G (n.*725T>G) c.4469T>G (p.Leu1490Arg) n.9649T>G n.3114T>G c.5309T>G (p.Leu1770Arg) c.5393T>G (p.Leu1798Arg) c.5441T>G (p.Leu1814Arg) c.4415T>G (p.Leu1472Arg) c.3996T>G c.3557T>G (p.Leu1186Arg) c.*1374T>G (n.*1374T>G) c.4710T>G c.5483T>G (p.Leu1828Arg) c.5480T>G (p.Leu1827Arg) c.5435T>G (p.Leu1812Arg) c.4559T>G (p.Leu1520Arg) c.4328T>G (p.Leu1443Arg) | |
10 | g.94298653C>A | CA470986204 | PLCE1 | c.4518C>A (p.Leu1506=) c.*1985C>A (n.*1985C>A) n.2177C>A n.861C>A c.*726C>A (n.*726C>A) c.4470C>A (p.Leu1490=) n.9650C>A n.3115C>A c.5310C>A (p.Leu1770=) c.5394C>A (p.Leu1798=) c.5442C>A (p.Leu1814=) c.4416C>A (p.Leu1472=) c.3997C>A c.3558C>A (p.Leu1186=) c.*1375C>A (n.*1375C>A) c.4711C>A c.5484C>A (p.Leu1828=) c.5481C>A (p.Leu1827=) c.5436C>A (p.Leu1812=) c.4560C>A (p.Leu1520=) c.4329C>A (p.Leu1443=) | |
10 | g.94298653C>G | CA470986207 | PLCE1 | c.4518C>G (p.Leu1506=) c.*1985C>G (n.*1985C>G) n.2177C>G n.861C>G c.*726C>G (n.*726C>G) c.4470C>G (p.Leu1490=) n.9650C>G n.3115C>G c.5310C>G (p.Leu1770=) c.5394C>G (p.Leu1798=) c.5442C>G (p.Leu1814=) c.4416C>G (p.Leu1472=) c.3997C>G c.3558C>G (p.Leu1186=) c.*1375C>G (n.*1375C>G) c.4711C>G c.5484C>G (p.Leu1828=) c.5481C>G (p.Leu1827=) c.5436C>G (p.Leu1812=) c.4560C>G (p.Leu1520=) c.4329C>G (p.Leu1443=) | |
10 | g.94298653C>T | CA470986209 | PLCE1 | c.4518C>T (p.Leu1506=) c.*1985C>T (n.*1985C>T) n.2177C>T n.861C>T c.*726C>T (n.*726C>T) c.4470C>T (p.Leu1490=) n.9650C>T n.3115C>T c.5310C>T (p.Leu1770=) c.5394C>T (p.Leu1798=) c.5442C>T (p.Leu1814=) c.4416C>T (p.Leu1472=) c.3997C>T c.3558C>T (p.Leu1186=) c.*1375C>T (n.*1375C>T) c.4711C>T c.5484C>T (p.Leu1828=) c.5481C>T (p.Leu1827=) c.5436C>T (p.Leu1812=) c.4560C>T (p.Leu1520=) c.4329C>T (p.Leu1443=) |