| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |