Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.94298416T>A | CA5613317 | PLCE1 | c.4281T>A (p.Ser1427=) c.*1748T>A (n.*1748T>A) n.1940T>A n.624T>A c.*489T>A (n.*489T>A) c.4233T>A (p.Ser1411=) n.9413T>A n.2878T>A c.5073T>A (p.Ser1691=) c.5157T>A (p.Ser1719=) c.5205T>A (p.Ser1735=) c.4179T>A (p.Ser1393=) c.3760T>A c.3321T>A (p.Ser1107=) c.*1138T>A (n.*1138T>A) c.4474T>A c.4050T>A (p.Ser1350=) c.5247T>A (p.Ser1749=) c.5244T>A (p.Ser1748=) c.5199T>A (p.Ser1733=) c.4323T>A (p.Ser1441=) c.4092T>A (p.Ser1364=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298416T>C | CA5613316 | PLCE1 | c.4281T>C (p.Ser1427=) c.*1748T>C (n.*1748T>C) n.1940T>C n.624T>C c.*489T>C (n.*489T>C) c.4233T>C (p.Ser1411=) n.9413T>C n.2878T>C c.5073T>C (p.Ser1691=) c.5157T>C (p.Ser1719=) c.5205T>C (p.Ser1735=) c.4179T>C (p.Ser1393=) c.3760T>C c.3321T>C (p.Ser1107=) c.*1138T>C (n.*1138T>C) c.4474T>C c.4050T>C (p.Ser1350=) c.5247T>C (p.Ser1749=) c.5244T>C (p.Ser1748=) c.5199T>C (p.Ser1733=) c.4323T>C (p.Ser1441=) c.4092T>C (p.Ser1364=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298416T>G | CA470986416 | PLCE1 | c.4281T>G (p.Ser1427=) c.*1748T>G (n.*1748T>G) n.1940T>G n.624T>G c.*489T>G (n.*489T>G) c.4233T>G (p.Ser1411=) n.9413T>G n.2878T>G c.5073T>G (p.Ser1691=) c.5157T>G (p.Ser1719=) c.5205T>G (p.Ser1735=) c.4179T>G (p.Ser1393=) c.3760T>G c.3321T>G (p.Ser1107=) c.*1138T>G (n.*1138T>G) c.4474T>G c.4050T>G (p.Ser1350=) c.5247T>G (p.Ser1749=) c.5244T>G (p.Ser1748=) c.5199T>G (p.Ser1733=) c.4323T>G (p.Ser1441=) c.4092T>G (p.Ser1364=) | |
10 | g.94298416T= | CA1928998381 | PLCE1 | c.4281T= (p.Ser1427=) c.*1748T= (n.*1748T=) n.1940T= n.624T= c.*489T= (n.*489T=) c.4233T= (p.Ser1411=) n.9413T= n.2878T= c.5073T= (p.Ser1691=) c.5157T= (p.Ser1719=) c.5205T= (p.Ser1735=) c.4179T= (p.Ser1393=) c.3760T= c.3321T= (p.Ser1107=) c.*1138T= (n.*1138T=) c.4474T= c.4050T= (p.Ser1350=) c.5247T= (p.Ser1749=) c.5244T= (p.Ser1748=) c.5199T= (p.Ser1733=) c.4323T= (p.Ser1441=) c.4092T= (p.Ser1364=) | |
10 | g.94298417T>A | CA377641733 | PLCE1 | c.4282T>A (p.Ser1428Thr) c.*1749T>A (n.*1749T>A) n.1941T>A n.625T>A c.*490T>A (n.*490T>A) c.4234T>A (p.Ser1412Thr) n.9414T>A n.2879T>A c.5074T>A (p.Ser1692Thr) c.5158T>A (p.Ser1720Thr) c.5206T>A (p.Ser1736Thr) c.4180T>A (p.Ser1394Thr) c.3761T>A c.3322T>A (p.Ser1108Thr) c.*1139T>A (n.*1139T>A) c.4475T>A c.4051T>A (p.Ser1351Thr) c.5248T>A (p.Ser1750Thr) c.5245T>A (p.Ser1749Thr) c.5200T>A (p.Ser1734Thr) c.4324T>A (p.Ser1442Thr) c.4093T>A (p.Ser1365Thr) | |
10 | g.94298417T>C | CA377641734 | PLCE1 | c.4282T>C (p.Ser1428Pro) c.*1749T>C (n.*1749T>C) n.1941T>C n.625T>C c.*490T>C (n.*490T>C) c.4234T>C (p.Ser1412Pro) n.9414T>C n.2879T>C c.5074T>C (p.Ser1692Pro) c.5158T>C (p.Ser1720Pro) c.5206T>C (p.Ser1736Pro) c.4180T>C (p.Ser1394Pro) c.3761T>C c.3322T>C (p.Ser1108Pro) c.*1139T>C (n.*1139T>C) c.4475T>C c.4051T>C (p.Ser1351Pro) c.5248T>C (p.Ser1750Pro) c.5245T>C (p.Ser1749Pro) c.5200T>C (p.Ser1734Pro) c.4324T>C (p.Ser1442Pro) c.4093T>C (p.Ser1365Pro) | |
10 | g.94298417T>G | CA5613318 | PLCE1 | c.4282T>G (p.Ser1428Ala) c.*1749T>G (n.*1749T>G) n.1941T>G n.625T>G c.*490T>G (n.*490T>G) c.4234T>G (p.Ser1412Ala) n.9414T>G n.2879T>G c.5074T>G (p.Ser1692Ala) c.5158T>G (p.Ser1720Ala) c.5206T>G (p.Ser1736Ala) c.4180T>G (p.Ser1394Ala) c.3761T>G c.3322T>G (p.Ser1108Ala) c.*1139T>G (n.*1139T>G) c.4475T>G c.4051T>G (p.Ser1351Ala) c.5248T>G (p.Ser1750Ala) c.5245T>G (p.Ser1749Ala) c.5200T>G (p.Ser1734Ala) c.4324T>G (p.Ser1442Ala) c.4093T>G (p.Ser1365Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298417T= | CA1928998382 | PLCE1 | c.4282T= (p.Ser1428=) c.*1749T= (n.*1749T=) n.1941T= n.625T= c.*490T= (n.*490T=) c.4234T= (p.Ser1412=) n.9414T= n.2879T= c.5074T= (p.Ser1692=) c.5158T= (p.Ser1720=) c.5206T= (p.Ser1736=) c.4180T= (p.Ser1394=) c.3761T= c.3322T= (p.Ser1108=) c.*1139T= (n.*1139T=) c.4475T= c.4051T= (p.Ser1351=) c.5248T= (p.Ser1750=) c.5245T= (p.Ser1749=) c.5200T= (p.Ser1734=) c.4324T= (p.Ser1442=) c.4093T= (p.Ser1365=) | |
10 | g.94298418C>A | CA377641735 | PLCE1 | c.4283C>A (p.Ser1428Tyr) c.*1750C>A (n.*1750C>A) n.1942C>A n.626C>A c.*491C>A (n.*491C>A) c.4235C>A (p.Ser1412Tyr) n.9415C>A n.2880C>A c.5075C>A (p.Ser1692Tyr) c.5159C>A (p.Ser1720Tyr) c.5207C>A (p.Ser1736Tyr) c.4181C>A (p.Ser1394Tyr) c.3762C>A c.3323C>A (p.Ser1108Tyr) c.*1140C>A (n.*1140C>A) c.4476C>A c.4052C>A (p.Ser1351Tyr) c.5249C>A (p.Ser1750Tyr) c.5246C>A (p.Ser1749Tyr) c.5201C>A (p.Ser1734Tyr) c.4325C>A (p.Ser1442Tyr) c.4094C>A (p.Ser1365Tyr) | |
10 | g.94298418C= | CA1928998383 | PLCE1 | c.4283C= (p.Ser1428=) c.*1750C= (n.*1750C=) n.1942C= n.626C= c.*491C= (n.*491C=) c.4235C= (p.Ser1412=) n.9415C= n.2880C= c.5075C= (p.Ser1692=) c.5159C= (p.Ser1720=) c.5207C= (p.Ser1736=) c.4181C= (p.Ser1394=) c.3762C= c.3323C= (p.Ser1108=) c.*1140C= (n.*1140C=) c.4476C= c.4052C= (p.Ser1351=) c.5249C= (p.Ser1750=) c.5246C= (p.Ser1749=) c.5201C= (p.Ser1734=) c.4325C= (p.Ser1442=) c.4094C= (p.Ser1365=) | |
10 | g.94298418C>G | CA377641736 | PLCE1 | c.4283C>G (p.Ser1428Cys) c.*1750C>G (n.*1750C>G) n.1942C>G n.626C>G c.*491C>G (n.*491C>G) c.4235C>G (p.Ser1412Cys) n.9415C>G n.2880C>G c.5075C>G (p.Ser1692Cys) c.5159C>G (p.Ser1720Cys) c.5207C>G (p.Ser1736Cys) c.4181C>G (p.Ser1394Cys) c.3762C>G c.3323C>G (p.Ser1108Cys) c.*1140C>G (n.*1140C>G) c.4476C>G c.4052C>G (p.Ser1351Cys) c.5249C>G (p.Ser1750Cys) c.5246C>G (p.Ser1749Cys) c.5201C>G (p.Ser1734Cys) c.4325C>G (p.Ser1442Cys) c.4094C>G (p.Ser1365Cys) | |
10 | g.94298418C>T | CA377641737 | PLCE1 | c.4283C>T (p.Ser1428Phe) c.*1750C>T (n.*1750C>T) n.1942C>T n.626C>T c.*491C>T (n.*491C>T) c.4235C>T (p.Ser1412Phe) n.9415C>T n.2880C>T c.5075C>T (p.Ser1692Phe) c.5159C>T (p.Ser1720Phe) c.5207C>T (p.Ser1736Phe) c.4181C>T (p.Ser1394Phe) c.3762C>T c.3323C>T (p.Ser1108Phe) c.*1140C>T (n.*1140C>T) c.4476C>T c.4052C>T (p.Ser1351Phe) c.5249C>T (p.Ser1750Phe) c.5246C>T (p.Ser1749Phe) c.5201C>T (p.Ser1734Phe) c.4325C>T (p.Ser1442Phe) c.4094C>T (p.Ser1365Phe) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298419T>A | CA470986420 | PLCE1 | c.4284T>A (p.Ser1428=) c.*1751T>A (n.*1751T>A) n.1943T>A n.627T>A c.*492T>A (n.*492T>A) c.4236T>A (p.Ser1412=) n.9416T>A n.2881T>A c.5076T>A (p.Ser1692=) c.5160T>A (p.Ser1720=) c.5208T>A (p.Ser1736=) c.4182T>A (p.Ser1394=) c.3763T>A c.3324T>A (p.Ser1108=) c.*1141T>A (n.*1141T>A) c.4477T>A c.4053T>A (p.Ser1351=) c.5250T>A (p.Ser1750=) c.5247T>A (p.Ser1749=) c.5202T>A (p.Ser1734=) c.4326T>A (p.Ser1442=) c.4095T>A (p.Ser1365=) | |
10 | g.94298419T>C | CA470986421 | PLCE1 | c.4284T>C (p.Ser1428=) c.*1751T>C (n.*1751T>C) n.1943T>C n.627T>C c.*492T>C (n.*492T>C) c.4236T>C (p.Ser1412=) n.9416T>C n.2881T>C c.5076T>C (p.Ser1692=) c.5160T>C (p.Ser1720=) c.5208T>C (p.Ser1736=) c.4182T>C (p.Ser1394=) c.3763T>C c.3324T>C (p.Ser1108=) c.*1141T>C (n.*1141T>C) c.4477T>C c.4053T>C (p.Ser1351=) c.5250T>C (p.Ser1750=) c.5247T>C (p.Ser1749=) c.5202T>C (p.Ser1734=) c.4326T>C (p.Ser1442=) c.4095T>C (p.Ser1365=) | dbSNP gnomAD v4 |
10 | g.94298419T>G | CA5613319 | PLCE1 | c.4284T>G (p.Ser1428=) c.*1751T>G (n.*1751T>G) n.1943T>G n.627T>G c.*492T>G (n.*492T>G) c.4236T>G (p.Ser1412=) n.9416T>G n.2881T>G c.5076T>G (p.Ser1692=) c.5160T>G (p.Ser1720=) c.5208T>G (p.Ser1736=) c.4182T>G (p.Ser1394=) c.3763T>G c.3324T>G (p.Ser1108=) c.*1141T>G (n.*1141T>G) c.4477T>G c.4053T>G (p.Ser1351=) c.5250T>G (p.Ser1750=) c.5247T>G (p.Ser1749=) c.5202T>G (p.Ser1734=) c.4326T>G (p.Ser1442=) c.4095T>G (p.Ser1365=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298419T= | CA1928998384 | PLCE1 | c.4284T= (p.Ser1428=) c.*1751T= (n.*1751T=) n.1943T= n.627T= c.*492T= (n.*492T=) c.4236T= (p.Ser1412=) n.9416T= n.2881T= c.5076T= (p.Ser1692=) c.5160T= (p.Ser1720=) c.5208T= (p.Ser1736=) c.4182T= (p.Ser1394=) c.3763T= c.3324T= (p.Ser1108=) c.*1141T= (n.*1141T=) c.4477T= c.4053T= (p.Ser1351=) c.5250T= (p.Ser1750=) c.5247T= (p.Ser1749=) c.5202T= (p.Ser1734=) c.4326T= (p.Ser1442=) c.4095T= (p.Ser1365=) | |
10 | g.94298420T>A | CA377641738 | PLCE1 | c.4285T>A (p.Ser1429Thr) c.*1752T>A (n.*1752T>A) n.1944T>A n.628T>A c.*493T>A (n.*493T>A) c.4237T>A (p.Ser1413Thr) n.9417T>A n.2882T>A c.5077T>A (p.Ser1693Thr) c.5161T>A (p.Ser1721Thr) c.5209T>A (p.Ser1737Thr) c.4183T>A (p.Ser1395Thr) c.3764T>A c.3325T>A (p.Ser1109Thr) c.*1142T>A (n.*1142T>A) c.4478T>A c.4054T>A (p.Ser1352Thr) c.5251T>A (p.Ser1751Thr) c.5248T>A (p.Ser1750Thr) c.5203T>A (p.Ser1735Thr) c.4327T>A (p.Ser1443Thr) c.4096T>A (p.Ser1366Thr) | |
10 | g.94298420T>C | CA377641740 | PLCE1 | c.4285T>C (p.Ser1429Pro) c.*1752T>C (n.*1752T>C) n.1944T>C n.628T>C c.*493T>C (n.*493T>C) c.4237T>C (p.Ser1413Pro) n.9417T>C n.2882T>C c.5077T>C (p.Ser1693Pro) c.5161T>C (p.Ser1721Pro) c.5209T>C (p.Ser1737Pro) c.4183T>C (p.Ser1395Pro) c.3764T>C c.3325T>C (p.Ser1109Pro) c.*1142T>C (n.*1142T>C) c.4478T>C c.4054T>C (p.Ser1352Pro) c.5251T>C (p.Ser1751Pro) c.5248T>C (p.Ser1750Pro) c.5203T>C (p.Ser1735Pro) c.4327T>C (p.Ser1443Pro) c.4096T>C (p.Ser1366Pro) | |
10 | g.94298420T>G | CA377641739 | PLCE1 | c.4285T>G (p.Ser1429Ala) c.*1752T>G (n.*1752T>G) n.1944T>G n.628T>G c.*493T>G (n.*493T>G) c.4237T>G (p.Ser1413Ala) n.9417T>G n.2882T>G c.5077T>G (p.Ser1693Ala) c.5161T>G (p.Ser1721Ala) c.5209T>G (p.Ser1737Ala) c.4183T>G (p.Ser1395Ala) c.3764T>G c.3325T>G (p.Ser1109Ala) c.*1142T>G (n.*1142T>G) c.4478T>G c.4054T>G (p.Ser1352Ala) c.5251T>G (p.Ser1751Ala) c.5248T>G (p.Ser1750Ala) c.5203T>G (p.Ser1735Ala) c.4327T>G (p.Ser1443Ala) c.4096T>G (p.Ser1366Ala) | |
10 | g.94298421C>A | CA377641741 | PLCE1 | c.4286C>A (p.Ser1429Tyr) c.*1753C>A (n.*1753C>A) n.1945C>A n.629C>A c.*494C>A (n.*494C>A) c.4238C>A (p.Ser1413Tyr) n.9418C>A n.2883C>A c.5078C>A (p.Ser1693Tyr) c.5162C>A (p.Ser1721Tyr) c.5210C>A (p.Ser1737Tyr) c.4184C>A (p.Ser1395Tyr) c.3765C>A c.3326C>A (p.Ser1109Tyr) c.*1143C>A (n.*1143C>A) c.4479C>A c.4055C>A (p.Ser1352Tyr) c.5252C>A (p.Ser1751Tyr) c.5249C>A (p.Ser1750Tyr) c.5204C>A (p.Ser1735Tyr) c.4328C>A (p.Ser1443Tyr) c.4097C>A (p.Ser1366Tyr) | |
10 | g.94298421C= | CA1928998385 | PLCE1 | c.4286C= (p.Ser1429=) c.*1753C= (n.*1753C=) n.1945C= n.629C= c.*494C= (n.*494C=) c.4238C= (p.Ser1413=) n.9418C= n.2883C= c.5078C= (p.Ser1693=) c.5162C= (p.Ser1721=) c.5210C= (p.Ser1737=) c.4184C= (p.Ser1395=) c.3765C= c.3326C= (p.Ser1109=) c.*1143C= (n.*1143C=) c.4479C= c.4055C= (p.Ser1352=) c.5252C= (p.Ser1751=) c.5249C= (p.Ser1750=) c.5204C= (p.Ser1735=) c.4328C= (p.Ser1443=) c.4097C= (p.Ser1366=) | |
10 | g.94298421C>G | CA377641742 | PLCE1 | c.4286C>G (p.Ser1429Cys) c.*1753C>G (n.*1753C>G) n.1945C>G n.629C>G c.*494C>G (n.*494C>G) c.4238C>G (p.Ser1413Cys) n.9418C>G n.2883C>G c.5078C>G (p.Ser1693Cys) c.5162C>G (p.Ser1721Cys) c.5210C>G (p.Ser1737Cys) c.4184C>G (p.Ser1395Cys) c.3765C>G c.3326C>G (p.Ser1109Cys) c.*1143C>G (n.*1143C>G) c.4479C>G c.4055C>G (p.Ser1352Cys) c.5252C>G (p.Ser1751Cys) c.5249C>G (p.Ser1750Cys) c.5204C>G (p.Ser1735Cys) c.4328C>G (p.Ser1443Cys) c.4097C>G (p.Ser1366Cys) | |
10 | g.94298421C>T | CA5613320 | PLCE1 | c.4286C>T (p.Ser1429Phe) c.*1753C>T (n.*1753C>T) n.1945C>T n.629C>T c.*494C>T (n.*494C>T) c.4238C>T (p.Ser1413Phe) n.9418C>T n.2883C>T c.5078C>T (p.Ser1693Phe) c.5162C>T (p.Ser1721Phe) c.5210C>T (p.Ser1737Phe) c.4184C>T (p.Ser1395Phe) c.3765C>T c.3326C>T (p.Ser1109Phe) c.*1143C>T (n.*1143C>T) c.4479C>T c.4055C>T (p.Ser1352Phe) c.5252C>T (p.Ser1751Phe) c.5249C>T (p.Ser1750Phe) c.5204C>T (p.Ser1735Phe) c.4328C>T (p.Ser1443Phe) c.4097C>T (p.Ser1366Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298422C>A | CA470986423 | PLCE1 | c.4287C>A (p.Ser1429=) c.*1754C>A (n.*1754C>A) n.1946C>A n.630C>A c.*495C>A (n.*495C>A) c.4239C>A (p.Ser1413=) n.9419C>A n.2884C>A c.5079C>A (p.Ser1693=) c.5163C>A (p.Ser1721=) c.5211C>A (p.Ser1737=) c.4185C>A (p.Ser1395=) c.3766C>A c.3327C>A (p.Ser1109=) c.*1144C>A (n.*1144C>A) c.4480C>A c.4056C>A (p.Ser1352=) c.5253C>A (p.Ser1751=) c.5250C>A (p.Ser1750=) c.5205C>A (p.Ser1735=) c.4329C>A (p.Ser1443=) c.4098C>A (p.Ser1366=) | |
10 | g.94298422C>G | CA470986425 | PLCE1 | c.4287C>G (p.Ser1429=) c.*1754C>G (n.*1754C>G) n.1946C>G n.630C>G c.*495C>G (n.*495C>G) c.4239C>G (p.Ser1413=) n.9419C>G n.2884C>G c.5079C>G (p.Ser1693=) c.5163C>G (p.Ser1721=) c.5211C>G (p.Ser1737=) c.4185C>G (p.Ser1395=) c.3766C>G c.3327C>G (p.Ser1109=) c.*1144C>G (n.*1144C>G) c.4480C>G c.4056C>G (p.Ser1352=) c.5253C>G (p.Ser1751=) c.5250C>G (p.Ser1750=) c.5205C>G (p.Ser1735=) c.4329C>G (p.Ser1443=) c.4098C>G (p.Ser1366=) | gnomAD v4 |
10 | g.94298422C>T | CA470986427 | PLCE1 | c.4287C>T (p.Ser1429=) c.*1754C>T (n.*1754C>T) n.1946C>T n.630C>T c.*495C>T (n.*495C>T) c.4239C>T (p.Ser1413=) n.9419C>T n.2884C>T c.5079C>T (p.Ser1693=) c.5163C>T (p.Ser1721=) c.5211C>T (p.Ser1737=) c.4185C>T (p.Ser1395=) c.3766C>T c.3327C>T (p.Ser1109=) c.*1144C>T (n.*1144C>T) c.4480C>T c.4056C>T (p.Ser1352=) c.5253C>T (p.Ser1751=) c.5250C>T (p.Ser1750=) c.5205C>T (p.Ser1735=) c.4329C>T (p.Ser1443=) c.4098C>T (p.Ser1366=) | |
10 | g.94298423C>A | CA377641743 | PLCE1 | c.4288C>A (p.Pro1430Thr) c.*1755C>A (n.*1755C>A) n.1947C>A n.631C>A c.*496C>A (n.*496C>A) c.4240C>A (p.Pro1414Thr) n.9420C>A n.2885C>A c.5080C>A (p.Pro1694Thr) c.5164C>A (p.Pro1722Thr) c.5212C>A (p.Pro1738Thr) c.4186C>A (p.Pro1396Thr) c.3767C>A c.3328C>A (p.Pro1110Thr) c.*1145C>A (n.*1145C>A) c.4481C>A c.4057C>A (p.Pro1353Thr) c.5254C>A (p.Pro1752Thr) c.5251C>A (p.Pro1751Thr) c.5206C>A (p.Pro1736Thr) c.4330C>A (p.Pro1444Thr) c.4099C>A (p.Pro1367Thr) | |
10 | g.94298423C= | CA1928998386 | PLCE1 | c.4288C= (p.Pro1430=) c.*1755C= (n.*1755C=) n.1947C= n.631C= c.*496C= (n.*496C=) c.4240C= (p.Pro1414=) n.9420C= n.2885C= c.5080C= (p.Pro1694=) c.5164C= (p.Pro1722=) c.5212C= (p.Pro1738=) c.4186C= (p.Pro1396=) c.3767C= c.3328C= (p.Pro1110=) c.*1145C= (n.*1145C=) c.4481C= c.4057C= (p.Pro1353=) c.5254C= (p.Pro1752=) c.5251C= (p.Pro1751=) c.5206C= (p.Pro1736=) c.4330C= (p.Pro1444=) c.4099C= (p.Pro1367=) | |
10 | g.94298423C>G | CA211599594 | PLCE1 | c.4288C>G (p.Pro1430Ala) c.*1755C>G (n.*1755C>G) n.1947C>G n.631C>G c.*496C>G (n.*496C>G) c.4240C>G (p.Pro1414Ala) n.9420C>G n.2885C>G c.5080C>G (p.Pro1694Ala) c.5164C>G (p.Pro1722Ala) c.5212C>G (p.Pro1738Ala) c.4186C>G (p.Pro1396Ala) c.3767C>G c.3328C>G (p.Pro1110Ala) c.*1145C>G (n.*1145C>G) c.4481C>G c.4057C>G (p.Pro1353Ala) c.5254C>G (p.Pro1752Ala) c.5251C>G (p.Pro1751Ala) c.5206C>G (p.Pro1736Ala) c.4330C>G (p.Pro1444Ala) c.4099C>G (p.Pro1367Ala) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298423C>T | CA377641744 | PLCE1 | c.4288C>T (p.Pro1430Ser) c.*1755C>T (n.*1755C>T) n.1947C>T n.631C>T c.*496C>T (n.*496C>T) c.4240C>T (p.Pro1414Ser) n.9420C>T n.2885C>T c.5080C>T (p.Pro1694Ser) c.5164C>T (p.Pro1722Ser) c.5212C>T (p.Pro1738Ser) c.4186C>T (p.Pro1396Ser) c.3767C>T c.3328C>T (p.Pro1110Ser) c.*1145C>T (n.*1145C>T) c.4481C>T c.4057C>T (p.Pro1353Ser) c.5254C>T (p.Pro1752Ser) c.5251C>T (p.Pro1751Ser) c.5206C>T (p.Pro1736Ser) c.4330C>T (p.Pro1444Ser) c.4099C>T (p.Pro1367Ser) | gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298424C>A | CA377641745 | PLCE1 | c.4289C>A (p.Pro1430His) c.*1756C>A (n.*1756C>A) n.1948C>A n.632C>A c.*497C>A (n.*497C>A) c.4241C>A (p.Pro1414His) n.9421C>A n.2886C>A c.5081C>A (p.Pro1694His) c.5165C>A (p.Pro1722His) c.5213C>A (p.Pro1738His) c.4187C>A (p.Pro1396His) c.3768C>A c.3329C>A (p.Pro1110His) c.*1146C>A (n.*1146C>A) c.4482C>A c.4058C>A (p.Pro1353His) c.5255C>A (p.Pro1752His) c.5252C>A (p.Pro1751His) c.5207C>A (p.Pro1736His) c.4331C>A (p.Pro1444His) c.4100C>A (p.Pro1367His) | |
10 | g.94298424C= | CA1928998387 | PLCE1 | c.4289C= (p.Pro1430=) c.*1756C= (n.*1756C=) n.1948C= n.632C= c.*497C= (n.*497C=) c.4241C= (p.Pro1414=) n.9421C= n.2886C= c.5081C= (p.Pro1694=) c.5165C= (p.Pro1722=) c.5213C= (p.Pro1738=) c.4187C= (p.Pro1396=) c.3768C= c.3329C= (p.Pro1110=) c.*1146C= (n.*1146C=) c.4482C= c.4058C= (p.Pro1353=) c.5255C= (p.Pro1752=) c.5252C= (p.Pro1751=) c.5207C= (p.Pro1736=) c.4331C= (p.Pro1444=) c.4100C= (p.Pro1367=) | |
10 | g.94298424C>G | CA5613321 | PLCE1 | c.4289C>G (p.Pro1430Arg) c.*1756C>G (n.*1756C>G) n.1948C>G n.632C>G c.*497C>G (n.*497C>G) c.4241C>G (p.Pro1414Arg) n.9421C>G n.2886C>G c.5081C>G (p.Pro1694Arg) c.5165C>G (p.Pro1722Arg) c.5213C>G (p.Pro1738Arg) c.4187C>G (p.Pro1396Arg) c.3768C>G c.3329C>G (p.Pro1110Arg) c.*1146C>G (n.*1146C>G) c.4482C>G c.4058C>G (p.Pro1353Arg) c.5255C>G (p.Pro1752Arg) c.5252C>G (p.Pro1751Arg) c.5207C>G (p.Pro1736Arg) c.4331C>G (p.Pro1444Arg) c.4100C>G (p.Pro1367Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298424C>T | CA377641746 | PLCE1 | c.4289C>T (p.Pro1430Leu) c.*1756C>T (n.*1756C>T) n.1948C>T n.632C>T c.*497C>T (n.*497C>T) c.4241C>T (p.Pro1414Leu) n.9421C>T n.2886C>T c.5081C>T (p.Pro1694Leu) c.5165C>T (p.Pro1722Leu) c.5213C>T (p.Pro1738Leu) c.4187C>T (p.Pro1396Leu) c.3768C>T c.3329C>T (p.Pro1110Leu) c.*1146C>T (n.*1146C>T) c.4482C>T c.4058C>T (p.Pro1353Leu) c.5255C>T (p.Pro1752Leu) c.5252C>T (p.Pro1751Leu) c.5207C>T (p.Pro1736Leu) c.4331C>T (p.Pro1444Leu) c.4100C>T (p.Pro1367Leu) | |
10 | g.94298425T>A | CA470986428 | PLCE1 | c.4290T>A (p.Pro1430=) c.*1757T>A (n.*1757T>A) n.1949T>A n.633T>A c.*498T>A (n.*498T>A) c.4242T>A (p.Pro1414=) n.9422T>A n.2887T>A c.5082T>A (p.Pro1694=) c.5166T>A (p.Pro1722=) c.5214T>A (p.Pro1738=) c.4188T>A (p.Pro1396=) c.3769T>A c.3330T>A (p.Pro1110=) c.*1147T>A (n.*1147T>A) c.4483T>A c.4059T>A (p.Pro1353=) c.5256T>A (p.Pro1752=) c.5253T>A (p.Pro1751=) c.5208T>A (p.Pro1736=) c.4332T>A (p.Pro1444=) c.4101T>A (p.Pro1367=) | |
10 | g.94298425T>C | CA470986429 | PLCE1 | c.4290T>C (p.Pro1430=) c.*1757T>C (n.*1757T>C) n.1949T>C n.633T>C c.*498T>C (n.*498T>C) c.4242T>C (p.Pro1414=) n.9422T>C n.2887T>C c.5082T>C (p.Pro1694=) c.5166T>C (p.Pro1722=) c.5214T>C (p.Pro1738=) c.4188T>C (p.Pro1396=) c.3769T>C c.3330T>C (p.Pro1110=) c.*1147T>C (n.*1147T>C) c.4483T>C c.4059T>C (p.Pro1353=) c.5256T>C (p.Pro1752=) c.5253T>C (p.Pro1751=) c.5208T>C (p.Pro1736=) c.4332T>C (p.Pro1444=) c.4101T>C (p.Pro1367=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298425T>G | CA470986430 | PLCE1 | c.4290T>G (p.Pro1430=) c.*1757T>G (n.*1757T>G) n.1949T>G n.633T>G c.*498T>G (n.*498T>G) c.4242T>G (p.Pro1414=) n.9422T>G n.2887T>G c.5082T>G (p.Pro1694=) c.5166T>G (p.Pro1722=) c.5214T>G (p.Pro1738=) c.4188T>G (p.Pro1396=) c.3769T>G c.3330T>G (p.Pro1110=) c.*1147T>G (n.*1147T>G) c.4483T>G c.4059T>G (p.Pro1353=) c.5256T>G (p.Pro1752=) c.5253T>G (p.Pro1751=) c.5208T>G (p.Pro1736=) c.4332T>G (p.Pro1444=) c.4101T>G (p.Pro1367=) | COSMIC COSMIC COSMIC |
10 | g.94298425T= | CA1928998388 | PLCE1 | c.4290T= (p.Pro1430=) c.*1757T= (n.*1757T=) n.1949T= n.633T= c.*498T= (n.*498T=) c.4242T= (p.Pro1414=) n.9422T= n.2887T= c.5082T= (p.Pro1694=) c.5166T= (p.Pro1722=) c.5214T= (p.Pro1738=) c.4188T= (p.Pro1396=) c.3769T= c.3330T= (p.Pro1110=) c.*1147T= (n.*1147T=) c.4483T= c.4059T= (p.Pro1353=) c.5256T= (p.Pro1752=) c.5253T= (p.Pro1751=) c.5208T= (p.Pro1736=) c.4332T= (p.Pro1444=) c.4101T= (p.Pro1367=) | |
10 | g.94298426C>A | CA377641747 | PLCE1 | c.4291C>A (p.Leu1431Ile) c.*1758C>A (n.*1758C>A) n.1950C>A n.634C>A c.*499C>A (n.*499C>A) c.4243C>A (p.Leu1415Ile) n.9423C>A n.2888C>A c.5083C>A (p.Leu1695Ile) c.5167C>A (p.Leu1723Ile) c.5215C>A (p.Leu1739Ile) c.4189C>A (p.Leu1397Ile) c.3770C>A c.3331C>A (p.Leu1111Ile) c.*1148C>A (n.*1148C>A) c.4484C>A c.4060C>A (p.Leu1354Ile) c.5257C>A (p.Leu1753Ile) c.5254C>A (p.Leu1752Ile) c.5209C>A (p.Leu1737Ile) c.4333C>A (p.Leu1445Ile) c.4102C>A (p.Leu1368Ile) | |
10 | g.94298426C= | CA1928998389 | PLCE1 | c.4291C= (p.Leu1431=) c.*1758C= (n.*1758C=) n.1950C= n.634C= c.*499C= (n.*499C=) c.4243C= (p.Leu1415=) n.9423C= n.2888C= c.5083C= (p.Leu1695=) c.5167C= (p.Leu1723=) c.5215C= (p.Leu1739=) c.4189C= (p.Leu1397=) c.3770C= c.3331C= (p.Leu1111=) c.*1148C= (n.*1148C=) c.4484C= c.4060C= (p.Leu1354=) c.5257C= (p.Leu1753=) c.5254C= (p.Leu1752=) c.5209C= (p.Leu1737=) c.4333C= (p.Leu1445=) c.4102C= (p.Leu1368=) | |
10 | g.94298426C>G | CA377641748 | PLCE1 | c.4291C>G (p.Leu1431Val) c.*1758C>G (n.*1758C>G) n.1950C>G n.634C>G c.*499C>G (n.*499C>G) c.4243C>G (p.Leu1415Val) n.9423C>G n.2888C>G c.5083C>G (p.Leu1695Val) c.5167C>G (p.Leu1723Val) c.5215C>G (p.Leu1739Val) c.4189C>G (p.Leu1397Val) c.3770C>G c.3331C>G (p.Leu1111Val) c.*1148C>G (n.*1148C>G) c.4484C>G c.4060C>G (p.Leu1354Val) c.5257C>G (p.Leu1753Val) c.5254C>G (p.Leu1752Val) c.5209C>G (p.Leu1737Val) c.4333C>G (p.Leu1445Val) c.4102C>G (p.Leu1368Val) | |
10 | g.94298426C>T | CA377641749 | PLCE1 | c.4291C>T (p.Leu1431Phe) c.*1758C>T (n.*1758C>T) n.1950C>T n.634C>T c.*499C>T (n.*499C>T) c.4243C>T (p.Leu1415Phe) n.9423C>T n.2888C>T c.5083C>T (p.Leu1695Phe) c.5167C>T (p.Leu1723Phe) c.5215C>T (p.Leu1739Phe) c.4189C>T (p.Leu1397Phe) c.3770C>T c.3331C>T (p.Leu1111Phe) c.*1148C>T (n.*1148C>T) c.4484C>T c.4060C>T (p.Leu1354Phe) c.5257C>T (p.Leu1753Phe) c.5254C>T (p.Leu1752Phe) c.5209C>T (p.Leu1737Phe) c.4333C>T (p.Leu1445Phe) c.4102C>T (p.Leu1368Phe) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298427T>A | CA377641752 | PLCE1 | c.4292T>A (p.Leu1431His) c.*1759T>A (n.*1759T>A) n.1951T>A n.635T>A c.*500T>A (n.*500T>A) c.4244T>A (p.Leu1415His) n.9424T>A n.2889T>A c.5084T>A (p.Leu1695His) c.5168T>A (p.Leu1723His) c.5216T>A (p.Leu1739His) c.4190T>A (p.Leu1397His) c.3771T>A c.3332T>A (p.Leu1111His) c.*1149T>A (n.*1149T>A) c.4485T>A c.4061T>A (p.Leu1354His) c.5258T>A (p.Leu1753His) c.5255T>A (p.Leu1752His) c.5210T>A (p.Leu1737His) c.4334T>A (p.Leu1445His) c.4103T>A (p.Leu1368His) | |
10 | g.94298427T>C | CA377641750 | PLCE1 | c.4292T>C (p.Leu1431Pro) c.*1759T>C (n.*1759T>C) n.1951T>C n.635T>C c.*500T>C (n.*500T>C) c.4244T>C (p.Leu1415Pro) n.9424T>C n.2889T>C c.5084T>C (p.Leu1695Pro) c.5168T>C (p.Leu1723Pro) c.5216T>C (p.Leu1739Pro) c.4190T>C (p.Leu1397Pro) c.3771T>C c.3332T>C (p.Leu1111Pro) c.*1149T>C (n.*1149T>C) c.4485T>C c.4061T>C (p.Leu1354Pro) c.5258T>C (p.Leu1753Pro) c.5255T>C (p.Leu1752Pro) c.5210T>C (p.Leu1737Pro) c.4334T>C (p.Leu1445Pro) c.4103T>C (p.Leu1368Pro) | |
10 | g.94298427T>G | CA377641751 | PLCE1 | c.4292T>G (p.Leu1431Arg) c.*1759T>G (n.*1759T>G) n.1951T>G n.635T>G c.*500T>G (n.*500T>G) c.4244T>G (p.Leu1415Arg) n.9424T>G n.2889T>G c.5084T>G (p.Leu1695Arg) c.5168T>G (p.Leu1723Arg) c.5216T>G (p.Leu1739Arg) c.4190T>G (p.Leu1397Arg) c.3771T>G c.3332T>G (p.Leu1111Arg) c.*1149T>G (n.*1149T>G) c.4485T>G c.4061T>G (p.Leu1354Arg) c.5258T>G (p.Leu1753Arg) c.5255T>G (p.Leu1752Arg) c.5210T>G (p.Leu1737Arg) c.4334T>G (p.Leu1445Arg) c.4103T>G (p.Leu1368Arg) | |
10 | g.94298428C>A | CA470986434 | PLCE1 | c.4293C>A (p.Leu1431=) c.*1760C>A (n.*1760C>A) n.1952C>A n.636C>A c.*501C>A (n.*501C>A) c.4245C>A (p.Leu1415=) n.9425C>A n.2890C>A c.5085C>A (p.Leu1695=) c.5169C>A (p.Leu1723=) c.5217C>A (p.Leu1739=) c.4191C>A (p.Leu1397=) c.3772C>A c.3333C>A (p.Leu1111=) c.*1150C>A (n.*1150C>A) c.4486C>A c.4062C>A (p.Leu1354=) c.5259C>A (p.Leu1753=) c.5256C>A (p.Leu1752=) c.5211C>A (p.Leu1737=) c.4335C>A (p.Leu1445=) c.4104C>A (p.Leu1368=) | |
10 | g.94298428C>G | CA470986435 | PLCE1 | c.4293C>G (p.Leu1431=) c.*1760C>G (n.*1760C>G) n.1952C>G n.636C>G c.*501C>G (n.*501C>G) c.4245C>G (p.Leu1415=) n.9425C>G n.2890C>G c.5085C>G (p.Leu1695=) c.5169C>G (p.Leu1723=) c.5217C>G (p.Leu1739=) c.4191C>G (p.Leu1397=) c.3772C>G c.3333C>G (p.Leu1111=) c.*1150C>G (n.*1150C>G) c.4486C>G c.4062C>G (p.Leu1354=) c.5259C>G (p.Leu1753=) c.5256C>G (p.Leu1752=) c.5211C>G (p.Leu1737=) c.4335C>G (p.Leu1445=) c.4104C>G (p.Leu1368=) | |
10 | g.94298428C>T | CA470986436 | PLCE1 | c.4293C>T (p.Leu1431=) c.*1760C>T (n.*1760C>T) n.1952C>T n.636C>T c.*501C>T (n.*501C>T) c.4245C>T (p.Leu1415=) n.9425C>T n.2890C>T c.5085C>T (p.Leu1695=) c.5169C>T (p.Leu1723=) c.5217C>T (p.Leu1739=) c.4191C>T (p.Leu1397=) c.3772C>T c.3333C>T (p.Leu1111=) c.*1150C>T (n.*1150C>T) c.4486C>T c.4062C>T (p.Leu1354=) c.5259C>T (p.Leu1753=) c.5256C>T (p.Leu1752=) c.5211C>T (p.Leu1737=) c.4335C>T (p.Leu1445=) c.4104C>T (p.Leu1368=) | |
10 | g.94298429A>C | CA377641753 | PLCE1 | c.4294A>C (p.Asn1432His) c.*1761A>C (n.*1761A>C) n.1953A>C n.637A>C c.*502A>C (n.*502A>C) c.4246A>C (p.Asn1416His) n.9426A>C n.2891A>C c.5086A>C (p.Asn1696His) c.5170A>C (p.Asn1724His) c.5218A>C (p.Asn1740His) c.4192A>C (p.Asn1398His) c.3773A>C c.3334A>C (p.Asn1112His) c.*1151A>C (n.*1151A>C) c.4487A>C c.4063A>C (p.Asn1355His) c.5260A>C (p.Asn1754His) c.5257A>C (p.Asn1753His) c.5212A>C (p.Asn1738His) c.4336A>C (p.Asn1446His) c.4105A>C (p.Asn1369His) | |
10 | g.94298429A>G | CA377641754 | PLCE1 | c.4294A>G (p.Asn1432Asp) c.*1761A>G (n.*1761A>G) n.1953A>G n.637A>G c.*502A>G (n.*502A>G) c.4246A>G (p.Asn1416Asp) n.9426A>G n.2891A>G c.5086A>G (p.Asn1696Asp) c.5170A>G (p.Asn1724Asp) c.5218A>G (p.Asn1740Asp) c.4192A>G (p.Asn1398Asp) c.3773A>G c.3334A>G (p.Asn1112Asp) c.*1151A>G (n.*1151A>G) c.4487A>G c.4063A>G (p.Asn1355Asp) c.5260A>G (p.Asn1754Asp) c.5257A>G (p.Asn1753Asp) c.5212A>G (p.Asn1738Asp) c.4336A>G (p.Asn1446Asp) c.4105A>G (p.Asn1369Asp) |