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