| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94298411G>A | CA211599559 | PLCE1 | c.4276G>A (p.Glu1426Lys) c.*1743G>A (n.*1743G>A) n.1935G>A n.619G>A c.*484G>A (n.*484G>A) c.4228G>A (p.Glu1410Lys) n.9408G>A n.2873G>A c.5068G>A (p.Glu1690Lys) c.5152G>A (p.Glu1718Lys) c.5200G>A (p.Glu1734Lys) c.4174G>A (p.Glu1392Lys) c.3755G>A c.3316G>A (p.Glu1106Lys) c.*1133G>A (n.*1133G>A) c.4469G>A c.4045G>A (p.Glu1349Lys) c.5242G>A (p.Glu1748Lys) c.5239G>A (p.Glu1747Lys) c.5194G>A (p.Glu1732Lys) c.4318G>A (p.Glu1440Lys) c.4087G>A (p.Glu1363Lys) | dbSNP |
| 10 | g.94298411G>C | CA377641720 | PLCE1 | c.4276G>C (p.Glu1426Gln) c.*1743G>C (n.*1743G>C) n.1935G>C n.619G>C c.*484G>C (n.*484G>C) c.4228G>C (p.Glu1410Gln) n.9408G>C n.2873G>C c.5068G>C (p.Glu1690Gln) c.5152G>C (p.Glu1718Gln) c.5200G>C (p.Glu1734Gln) c.4174G>C (p.Glu1392Gln) c.3755G>C c.3316G>C (p.Glu1106Gln) c.*1133G>C (n.*1133G>C) c.4469G>C c.4045G>C (p.Glu1349Gln) c.5242G>C (p.Glu1748Gln) c.5239G>C (p.Glu1747Gln) c.5194G>C (p.Glu1732Gln) c.4318G>C (p.Glu1440Gln) c.4087G>C (p.Glu1363Gln) | |
| 10 | g.94298411G= | CA1928998379 | PLCE1 | c.4276G= (p.Glu1426=) c.*1743G= (n.*1743G=) n.1935G= n.619G= c.*484G= (n.*484G=) c.4228G= (p.Glu1410=) n.9408G= n.2873G= c.5068G= (p.Glu1690=) c.5152G= (p.Glu1718=) c.5200G= (p.Glu1734=) c.4174G= (p.Glu1392=) c.3755G= c.3316G= (p.Glu1106=) c.*1133G= (n.*1133G=) c.4469G= c.4045G= (p.Glu1349=) c.5242G= (p.Glu1748=) c.5239G= (p.Glu1747=) c.5194G= (p.Glu1732=) c.4318G= (p.Glu1440=) c.4087G= (p.Glu1363=) | |
| 10 | g.94298411G>T | CA377641721 | PLCE1 | c.4276G>T (p.Glu1426Ter) c.*1743G>T (n.*1743G>T) n.1935G>T n.619G>T c.*484G>T (n.*484G>T) c.4228G>T (p.Glu1410Ter) n.9408G>T n.2873G>T c.5068G>T (p.Glu1690Ter) c.5152G>T (p.Glu1718Ter) c.5200G>T (p.Glu1734Ter) c.4174G>T (p.Glu1392Ter) c.3755G>T c.3316G>T (p.Glu1106Ter) c.*1133G>T (n.*1133G>T) c.4469G>T c.4045G>T (p.Glu1349Ter) c.5242G>T (p.Glu1748Ter) c.5239G>T (p.Glu1747Ter) c.5194G>T (p.Glu1732Ter) c.4318G>T (p.Glu1440Ter) c.4087G>T (p.Glu1363Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94298412A= | CA1928998380 | PLCE1 | c.4277A= (p.Glu1426=) c.*1744A= (n.*1744A=) n.1936A= n.620A= c.*485A= (n.*485A=) c.4229A= (p.Glu1410=) n.9409A= n.2874A= c.5069A= (p.Glu1690=) c.5153A= (p.Glu1718=) c.5201A= (p.Glu1734=) c.4175A= (p.Glu1392=) c.3756A= c.3317A= (p.Glu1106=) c.*1134A= (n.*1134A=) c.4470A= c.4046A= (p.Glu1349=) c.5243A= (p.Glu1748=) c.5240A= (p.Glu1747=) c.5195A= (p.Glu1732=) c.4319A= (p.Glu1440=) c.4088A= (p.Glu1363=) | |
| 10 | g.94298412A>C | CA377641722 | PLCE1 | c.4277A>C (p.Glu1426Ala) c.*1744A>C (n.*1744A>C) n.1936A>C n.620A>C c.*485A>C (n.*485A>C) c.4229A>C (p.Glu1410Ala) n.9409A>C n.2874A>C c.5069A>C (p.Glu1690Ala) c.5153A>C (p.Glu1718Ala) c.5201A>C (p.Glu1734Ala) c.4175A>C (p.Glu1392Ala) c.3756A>C c.3317A>C (p.Glu1106Ala) c.*1134A>C (n.*1134A>C) c.4470A>C c.4046A>C (p.Glu1349Ala) c.5243A>C (p.Glu1748Ala) c.5240A>C (p.Glu1747Ala) c.5195A>C (p.Glu1732Ala) c.4319A>C (p.Glu1440Ala) c.4088A>C (p.Glu1363Ala) | |
| 10 | g.94298412A>G | CA377641723 | PLCE1 | c.4277A>G (p.Glu1426Gly) c.*1744A>G (n.*1744A>G) n.1936A>G n.620A>G c.*485A>G (n.*485A>G) c.4229A>G (p.Glu1410Gly) n.9409A>G n.2874A>G c.5069A>G (p.Glu1690Gly) c.5153A>G (p.Glu1718Gly) c.5201A>G (p.Glu1734Gly) c.4175A>G (p.Glu1392Gly) c.3756A>G c.3317A>G (p.Glu1106Gly) c.*1134A>G (n.*1134A>G) c.4470A>G c.4046A>G (p.Glu1349Gly) c.5243A>G (p.Glu1748Gly) c.5240A>G (p.Glu1747Gly) c.5195A>G (p.Glu1732Gly) c.4319A>G (p.Glu1440Gly) c.4088A>G (p.Glu1363Gly) | |
| 10 | g.94298412A>T | CA377641724 | PLCE1 | c.4277A>T (p.Glu1426Val) c.*1744A>T (n.*1744A>T) n.1936A>T n.620A>T c.*485A>T (n.*485A>T) c.4229A>T (p.Glu1410Val) n.9409A>T n.2874A>T c.5069A>T (p.Glu1690Val) c.5153A>T (p.Glu1718Val) c.5201A>T (p.Glu1734Val) c.4175A>T (p.Glu1392Val) c.3756A>T c.3317A>T (p.Glu1106Val) c.*1134A>T (n.*1134A>T) c.4470A>T c.4046A>T (p.Glu1349Val) c.5243A>T (p.Glu1748Val) c.5240A>T (p.Glu1747Val) c.5195A>T (p.Glu1732Val) c.4319A>T (p.Glu1440Val) c.4088A>T (p.Glu1363Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94298413A>C | CA377641725 | PLCE1 | c.4278A>C (p.Glu1426Asp) c.*1745A>C (n.*1745A>C) n.1937A>C n.621A>C c.*486A>C (n.*486A>C) c.4230A>C (p.Glu1410Asp) n.9410A>C n.2875A>C c.5070A>C (p.Glu1690Asp) c.5154A>C (p.Glu1718Asp) c.5202A>C (p.Glu1734Asp) c.4176A>C (p.Glu1392Asp) c.3757A>C c.3318A>C (p.Glu1106Asp) c.*1135A>C (n.*1135A>C) c.4471A>C c.4047A>C (p.Glu1349Asp) c.5244A>C (p.Glu1748Asp) c.5241A>C (p.Glu1747Asp) c.5196A>C (p.Glu1732Asp) c.4320A>C (p.Glu1440Asp) c.4089A>C (p.Glu1363Asp) | |
| 10 | g.94298413A>G | CA470986415 | PLCE1 | c.4278A>G (p.Glu1426=) c.*1745A>G (n.*1745A>G) n.1937A>G n.621A>G c.*486A>G (n.*486A>G) c.4230A>G (p.Glu1410=) n.9410A>G n.2875A>G c.5070A>G (p.Glu1690=) c.5154A>G (p.Glu1718=) c.5202A>G (p.Glu1734=) c.4176A>G (p.Glu1392=) c.3757A>G c.3318A>G (p.Glu1106=) c.*1135A>G (n.*1135A>G) c.4471A>G c.4047A>G (p.Glu1349=) c.5244A>G (p.Glu1748=) c.5241A>G (p.Glu1747=) c.5196A>G (p.Glu1732=) c.4320A>G (p.Glu1440=) c.4089A>G (p.Glu1363=) | |
| 10 | g.94298413A>T | CA377641726 | PLCE1 | c.4278A>T (p.Glu1426Asp) c.*1745A>T (n.*1745A>T) n.1937A>T n.621A>T c.*486A>T (n.*486A>T) c.4230A>T (p.Glu1410Asp) n.9410A>T n.2875A>T c.5070A>T (p.Glu1690Asp) c.5154A>T (p.Glu1718Asp) c.5202A>T (p.Glu1734Asp) c.4176A>T (p.Glu1392Asp) c.3757A>T c.3318A>T (p.Glu1106Asp) c.*1135A>T (n.*1135A>T) c.4471A>T c.4047A>T (p.Glu1349Asp) c.5244A>T (p.Glu1748Asp) c.5241A>T (p.Glu1747Asp) c.5196A>T (p.Glu1732Asp) c.4320A>T (p.Glu1440Asp) c.4089A>T (p.Glu1363Asp) | |
| 10 | g.94298414T>A | CA377641729 | PLCE1 | c.4279T>A (p.Ser1427Thr) c.*1746T>A (n.*1746T>A) n.1938T>A n.622T>A c.*487T>A (n.*487T>A) c.4231T>A (p.Ser1411Thr) n.9411T>A n.2876T>A c.5071T>A (p.Ser1691Thr) c.5155T>A (p.Ser1719Thr) c.5203T>A (p.Ser1735Thr) c.4177T>A (p.Ser1393Thr) c.3758T>A c.3319T>A (p.Ser1107Thr) c.*1136T>A (n.*1136T>A) c.4472T>A c.4048T>A (p.Ser1350Thr) c.5245T>A (p.Ser1749Thr) c.5242T>A (p.Ser1748Thr) c.5197T>A (p.Ser1733Thr) c.4321T>A (p.Ser1441Thr) c.4090T>A (p.Ser1364Thr) | COSMIC COSMIC COSMIC COSMIC |
| 10 | g.94298414T>C | CA377641727 | PLCE1 | c.4279T>C (p.Ser1427Pro) c.*1746T>C (n.*1746T>C) n.1938T>C n.622T>C c.*487T>C (n.*487T>C) c.4231T>C (p.Ser1411Pro) n.9411T>C n.2876T>C c.5071T>C (p.Ser1691Pro) c.5155T>C (p.Ser1719Pro) c.5203T>C (p.Ser1735Pro) c.4177T>C (p.Ser1393Pro) c.3758T>C c.3319T>C (p.Ser1107Pro) c.*1136T>C (n.*1136T>C) c.4472T>C c.4048T>C (p.Ser1350Pro) c.5245T>C (p.Ser1749Pro) c.5242T>C (p.Ser1748Pro) c.5197T>C (p.Ser1733Pro) c.4321T>C (p.Ser1441Pro) c.4090T>C (p.Ser1364Pro) | |
| 10 | g.94298414T>G | CA377641728 | PLCE1 | c.4279T>G (p.Ser1427Ala) c.*1746T>G (n.*1746T>G) n.1938T>G n.622T>G c.*487T>G (n.*487T>G) c.4231T>G (p.Ser1411Ala) n.9411T>G n.2876T>G c.5071T>G (p.Ser1691Ala) c.5155T>G (p.Ser1719Ala) c.5203T>G (p.Ser1735Ala) c.4177T>G (p.Ser1393Ala) c.3758T>G c.3319T>G (p.Ser1107Ala) c.*1136T>G (n.*1136T>G) c.4472T>G c.4048T>G (p.Ser1350Ala) c.5245T>G (p.Ser1749Ala) c.5242T>G (p.Ser1748Ala) c.5197T>G (p.Ser1733Ala) c.4321T>G (p.Ser1441Ala) c.4090T>G (p.Ser1364Ala) | |
| 10 | g.94298415C>A | CA377641730 | PLCE1 | c.4280C>A (p.Ser1427Tyr) c.*1747C>A (n.*1747C>A) n.1939C>A n.623C>A c.*488C>A (n.*488C>A) c.4232C>A (p.Ser1411Tyr) n.9412C>A n.2877C>A c.5072C>A (p.Ser1691Tyr) c.5156C>A (p.Ser1719Tyr) c.5204C>A (p.Ser1735Tyr) c.4178C>A (p.Ser1393Tyr) c.3759C>A c.3320C>A (p.Ser1107Tyr) c.*1137C>A (n.*1137C>A) c.4473C>A c.4049C>A (p.Ser1350Tyr) c.5246C>A (p.Ser1749Tyr) c.5243C>A (p.Ser1748Tyr) c.5198C>A (p.Ser1733Tyr) c.4322C>A (p.Ser1441Tyr) c.4091C>A (p.Ser1364Tyr) | COSMIC COSMIC COSMIC COSMIC |
| 10 | g.94298415C>G | CA377641731 | PLCE1 | c.4280C>G (p.Ser1427Cys) c.*1747C>G (n.*1747C>G) n.1939C>G n.623C>G c.*488C>G (n.*488C>G) c.4232C>G (p.Ser1411Cys) n.9412C>G n.2877C>G c.5072C>G (p.Ser1691Cys) c.5156C>G (p.Ser1719Cys) c.5204C>G (p.Ser1735Cys) c.4178C>G (p.Ser1393Cys) c.3759C>G c.3320C>G (p.Ser1107Cys) c.*1137C>G (n.*1137C>G) c.4473C>G c.4049C>G (p.Ser1350Cys) c.5246C>G (p.Ser1749Cys) c.5243C>G (p.Ser1748Cys) c.5198C>G (p.Ser1733Cys) c.4322C>G (p.Ser1441Cys) c.4091C>G (p.Ser1364Cys) | |
| 10 | g.94298415C>T | CA377641732 | PLCE1 | c.4280C>T (p.Ser1427Phe) c.*1747C>T (n.*1747C>T) n.1939C>T n.623C>T c.*488C>T (n.*488C>T) c.4232C>T (p.Ser1411Phe) n.9412C>T n.2877C>T c.5072C>T (p.Ser1691Phe) c.5156C>T (p.Ser1719Phe) c.5204C>T (p.Ser1735Phe) c.4178C>T (p.Ser1393Phe) c.3759C>T c.3320C>T (p.Ser1107Phe) c.*1137C>T (n.*1137C>T) c.4473C>T c.4049C>T (p.Ser1350Phe) c.5246C>T (p.Ser1749Phe) c.5243C>T (p.Ser1748Phe) c.5198C>T (p.Ser1733Phe) c.4322C>T (p.Ser1441Phe) c.4091C>T (p.Ser1364Phe) | |
| 10 | g.94298416T>A | CA5613317 | PLCE1 | c.4281T>A (p.Ser1427=) c.*1748T>A (n.*1748T>A) n.1940T>A n.624T>A c.*489T>A (n.*489T>A) c.4233T>A (p.Ser1411=) n.9413T>A n.2878T>A c.5073T>A (p.Ser1691=) c.5157T>A (p.Ser1719=) c.5205T>A (p.Ser1735=) c.4179T>A (p.Ser1393=) c.3760T>A c.3321T>A (p.Ser1107=) c.*1138T>A (n.*1138T>A) c.4474T>A c.4050T>A (p.Ser1350=) c.5247T>A (p.Ser1749=) c.5244T>A (p.Ser1748=) c.5199T>A (p.Ser1733=) c.4323T>A (p.Ser1441=) c.4092T>A (p.Ser1364=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.94298416T>C | CA5613316 | PLCE1 | c.4281T>C (p.Ser1427=) c.*1748T>C (n.*1748T>C) n.1940T>C n.624T>C c.*489T>C (n.*489T>C) c.4233T>C (p.Ser1411=) n.9413T>C n.2878T>C c.5073T>C (p.Ser1691=) c.5157T>C (p.Ser1719=) c.5205T>C (p.Ser1735=) c.4179T>C (p.Ser1393=) c.3760T>C c.3321T>C (p.Ser1107=) c.*1138T>C (n.*1138T>C) c.4474T>C c.4050T>C (p.Ser1350=) c.5247T>C (p.Ser1749=) c.5244T>C (p.Ser1748=) c.5199T>C (p.Ser1733=) c.4323T>C (p.Ser1441=) c.4092T>C (p.Ser1364=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94298416T>G | CA470986416 | PLCE1 | c.4281T>G (p.Ser1427=) c.*1748T>G (n.*1748T>G) n.1940T>G n.624T>G c.*489T>G (n.*489T>G) c.4233T>G (p.Ser1411=) n.9413T>G n.2878T>G c.5073T>G (p.Ser1691=) c.5157T>G (p.Ser1719=) c.5205T>G (p.Ser1735=) c.4179T>G (p.Ser1393=) c.3760T>G c.3321T>G (p.Ser1107=) c.*1138T>G (n.*1138T>G) c.4474T>G c.4050T>G (p.Ser1350=) c.5247T>G (p.Ser1749=) c.5244T>G (p.Ser1748=) c.5199T>G (p.Ser1733=) c.4323T>G (p.Ser1441=) c.4092T>G (p.Ser1364=) | |
| 10 | g.94298416T= | CA1928998381 | PLCE1 | c.4281T= (p.Ser1427=) c.*1748T= (n.*1748T=) n.1940T= n.624T= c.*489T= (n.*489T=) c.4233T= (p.Ser1411=) n.9413T= n.2878T= c.5073T= (p.Ser1691=) c.5157T= (p.Ser1719=) c.5205T= (p.Ser1735=) c.4179T= (p.Ser1393=) c.3760T= c.3321T= (p.Ser1107=) c.*1138T= (n.*1138T=) c.4474T= c.4050T= (p.Ser1350=) c.5247T= (p.Ser1749=) c.5244T= (p.Ser1748=) c.5199T= (p.Ser1733=) c.4323T= (p.Ser1441=) c.4092T= (p.Ser1364=) | |
| 10 | g.94298417T>A | CA377641733 | PLCE1 | c.4282T>A (p.Ser1428Thr) c.*1749T>A (n.*1749T>A) n.1941T>A n.625T>A c.*490T>A (n.*490T>A) c.4234T>A (p.Ser1412Thr) n.9414T>A n.2879T>A c.5074T>A (p.Ser1692Thr) c.5158T>A (p.Ser1720Thr) c.5206T>A (p.Ser1736Thr) c.4180T>A (p.Ser1394Thr) c.3761T>A c.3322T>A (p.Ser1108Thr) c.*1139T>A (n.*1139T>A) c.4475T>A c.4051T>A (p.Ser1351Thr) c.5248T>A (p.Ser1750Thr) c.5245T>A (p.Ser1749Thr) c.5200T>A (p.Ser1734Thr) c.4324T>A (p.Ser1442Thr) c.4093T>A (p.Ser1365Thr) | |
| 10 | g.94298417T>C | CA377641734 | PLCE1 | c.4282T>C (p.Ser1428Pro) c.*1749T>C (n.*1749T>C) n.1941T>C n.625T>C c.*490T>C (n.*490T>C) c.4234T>C (p.Ser1412Pro) n.9414T>C n.2879T>C c.5074T>C (p.Ser1692Pro) c.5158T>C (p.Ser1720Pro) c.5206T>C (p.Ser1736Pro) c.4180T>C (p.Ser1394Pro) c.3761T>C c.3322T>C (p.Ser1108Pro) c.*1139T>C (n.*1139T>C) c.4475T>C c.4051T>C (p.Ser1351Pro) c.5248T>C (p.Ser1750Pro) c.5245T>C (p.Ser1749Pro) c.5200T>C (p.Ser1734Pro) c.4324T>C (p.Ser1442Pro) c.4093T>C (p.Ser1365Pro) | |
| 10 | g.94298417T>G | CA5613318 | PLCE1 | c.4282T>G (p.Ser1428Ala) c.*1749T>G (n.*1749T>G) n.1941T>G n.625T>G c.*490T>G (n.*490T>G) c.4234T>G (p.Ser1412Ala) n.9414T>G n.2879T>G c.5074T>G (p.Ser1692Ala) c.5158T>G (p.Ser1720Ala) c.5206T>G (p.Ser1736Ala) c.4180T>G (p.Ser1394Ala) c.3761T>G c.3322T>G (p.Ser1108Ala) c.*1139T>G (n.*1139T>G) c.4475T>G c.4051T>G (p.Ser1351Ala) c.5248T>G (p.Ser1750Ala) c.5245T>G (p.Ser1749Ala) c.5200T>G (p.Ser1734Ala) c.4324T>G (p.Ser1442Ala) c.4093T>G (p.Ser1365Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.94298417T= | CA1928998382 | PLCE1 | c.4282T= (p.Ser1428=) c.*1749T= (n.*1749T=) n.1941T= n.625T= c.*490T= (n.*490T=) c.4234T= (p.Ser1412=) n.9414T= n.2879T= c.5074T= (p.Ser1692=) c.5158T= (p.Ser1720=) c.5206T= (p.Ser1736=) c.4180T= (p.Ser1394=) c.3761T= c.3322T= (p.Ser1108=) c.*1139T= (n.*1139T=) c.4475T= c.4051T= (p.Ser1351=) c.5248T= (p.Ser1750=) c.5245T= (p.Ser1749=) c.5200T= (p.Ser1734=) c.4324T= (p.Ser1442=) c.4093T= (p.Ser1365=) | |
| 10 | g.94298418C>A | CA377641735 | PLCE1 | c.4283C>A (p.Ser1428Tyr) c.*1750C>A (n.*1750C>A) n.1942C>A n.626C>A c.*491C>A (n.*491C>A) c.4235C>A (p.Ser1412Tyr) n.9415C>A n.2880C>A c.5075C>A (p.Ser1692Tyr) c.5159C>A (p.Ser1720Tyr) c.5207C>A (p.Ser1736Tyr) c.4181C>A (p.Ser1394Tyr) c.3762C>A c.3323C>A (p.Ser1108Tyr) c.*1140C>A (n.*1140C>A) c.4476C>A c.4052C>A (p.Ser1351Tyr) c.5249C>A (p.Ser1750Tyr) c.5246C>A (p.Ser1749Tyr) c.5201C>A (p.Ser1734Tyr) c.4325C>A (p.Ser1442Tyr) c.4094C>A (p.Ser1365Tyr) | |
| 10 | g.94298418C= | CA1928998383 | PLCE1 | c.4283C= (p.Ser1428=) c.*1750C= (n.*1750C=) n.1942C= n.626C= c.*491C= (n.*491C=) c.4235C= (p.Ser1412=) n.9415C= n.2880C= c.5075C= (p.Ser1692=) c.5159C= (p.Ser1720=) c.5207C= (p.Ser1736=) c.4181C= (p.Ser1394=) c.3762C= c.3323C= (p.Ser1108=) c.*1140C= (n.*1140C=) c.4476C= c.4052C= (p.Ser1351=) c.5249C= (p.Ser1750=) c.5246C= (p.Ser1749=) c.5201C= (p.Ser1734=) c.4325C= (p.Ser1442=) c.4094C= (p.Ser1365=) | |
| 10 | g.94298418C>G | CA377641736 | PLCE1 | c.4283C>G (p.Ser1428Cys) c.*1750C>G (n.*1750C>G) n.1942C>G n.626C>G c.*491C>G (n.*491C>G) c.4235C>G (p.Ser1412Cys) n.9415C>G n.2880C>G c.5075C>G (p.Ser1692Cys) c.5159C>G (p.Ser1720Cys) c.5207C>G (p.Ser1736Cys) c.4181C>G (p.Ser1394Cys) c.3762C>G c.3323C>G (p.Ser1108Cys) c.*1140C>G (n.*1140C>G) c.4476C>G c.4052C>G (p.Ser1351Cys) c.5249C>G (p.Ser1750Cys) c.5246C>G (p.Ser1749Cys) c.5201C>G (p.Ser1734Cys) c.4325C>G (p.Ser1442Cys) c.4094C>G (p.Ser1365Cys) | |
| 10 | g.94298418C>T | CA377641737 | PLCE1 | c.4283C>T (p.Ser1428Phe) c.*1750C>T (n.*1750C>T) n.1942C>T n.626C>T c.*491C>T (n.*491C>T) c.4235C>T (p.Ser1412Phe) n.9415C>T n.2880C>T c.5075C>T (p.Ser1692Phe) c.5159C>T (p.Ser1720Phe) c.5207C>T (p.Ser1736Phe) c.4181C>T (p.Ser1394Phe) c.3762C>T c.3323C>T (p.Ser1108Phe) c.*1140C>T (n.*1140C>T) c.4476C>T c.4052C>T (p.Ser1351Phe) c.5249C>T (p.Ser1750Phe) c.5246C>T (p.Ser1749Phe) c.5201C>T (p.Ser1734Phe) c.4325C>T (p.Ser1442Phe) c.4094C>T (p.Ser1365Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94298419T>A | CA470986420 | PLCE1 | c.4284T>A (p.Ser1428=) c.*1751T>A (n.*1751T>A) n.1943T>A n.627T>A c.*492T>A (n.*492T>A) c.4236T>A (p.Ser1412=) n.9416T>A n.2881T>A c.5076T>A (p.Ser1692=) c.5160T>A (p.Ser1720=) c.5208T>A (p.Ser1736=) c.4182T>A (p.Ser1394=) c.3763T>A c.3324T>A (p.Ser1108=) c.*1141T>A (n.*1141T>A) c.4477T>A c.4053T>A (p.Ser1351=) c.5250T>A (p.Ser1750=) c.5247T>A (p.Ser1749=) c.5202T>A (p.Ser1734=) c.4326T>A (p.Ser1442=) c.4095T>A (p.Ser1365=) | |
| 10 | g.94298419T>C | CA470986421 | PLCE1 | c.4284T>C (p.Ser1428=) c.*1751T>C (n.*1751T>C) n.1943T>C n.627T>C c.*492T>C (n.*492T>C) c.4236T>C (p.Ser1412=) n.9416T>C n.2881T>C c.5076T>C (p.Ser1692=) c.5160T>C (p.Ser1720=) c.5208T>C (p.Ser1736=) c.4182T>C (p.Ser1394=) c.3763T>C c.3324T>C (p.Ser1108=) c.*1141T>C (n.*1141T>C) c.4477T>C c.4053T>C (p.Ser1351=) c.5250T>C (p.Ser1750=) c.5247T>C (p.Ser1749=) c.5202T>C (p.Ser1734=) c.4326T>C (p.Ser1442=) c.4095T>C (p.Ser1365=) | dbSNP gnomAD v4 |
| 10 | g.94298419T>G | CA5613319 | PLCE1 | c.4284T>G (p.Ser1428=) c.*1751T>G (n.*1751T>G) n.1943T>G n.627T>G c.*492T>G (n.*492T>G) c.4236T>G (p.Ser1412=) n.9416T>G n.2881T>G c.5076T>G (p.Ser1692=) c.5160T>G (p.Ser1720=) c.5208T>G (p.Ser1736=) c.4182T>G (p.Ser1394=) c.3763T>G c.3324T>G (p.Ser1108=) c.*1141T>G (n.*1141T>G) c.4477T>G c.4053T>G (p.Ser1351=) c.5250T>G (p.Ser1750=) c.5247T>G (p.Ser1749=) c.5202T>G (p.Ser1734=) c.4326T>G (p.Ser1442=) c.4095T>G (p.Ser1365=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 10 | g.94298419T= | CA1928998384 | PLCE1 | c.4284T= (p.Ser1428=) c.*1751T= (n.*1751T=) n.1943T= n.627T= c.*492T= (n.*492T=) c.4236T= (p.Ser1412=) n.9416T= n.2881T= c.5076T= (p.Ser1692=) c.5160T= (p.Ser1720=) c.5208T= (p.Ser1736=) c.4182T= (p.Ser1394=) c.3763T= c.3324T= (p.Ser1108=) c.*1141T= (n.*1141T=) c.4477T= c.4053T= (p.Ser1351=) c.5250T= (p.Ser1750=) c.5247T= (p.Ser1749=) c.5202T= (p.Ser1734=) c.4326T= (p.Ser1442=) c.4095T= (p.Ser1365=) | |
| 10 | g.94298420T>A | CA377641738 | PLCE1 | c.4285T>A (p.Ser1429Thr) c.*1752T>A (n.*1752T>A) n.1944T>A n.628T>A c.*493T>A (n.*493T>A) c.4237T>A (p.Ser1413Thr) n.9417T>A n.2882T>A c.5077T>A (p.Ser1693Thr) c.5161T>A (p.Ser1721Thr) c.5209T>A (p.Ser1737Thr) c.4183T>A (p.Ser1395Thr) c.3764T>A c.3325T>A (p.Ser1109Thr) c.*1142T>A (n.*1142T>A) c.4478T>A c.4054T>A (p.Ser1352Thr) c.5251T>A (p.Ser1751Thr) c.5248T>A (p.Ser1750Thr) c.5203T>A (p.Ser1735Thr) c.4327T>A (p.Ser1443Thr) c.4096T>A (p.Ser1366Thr) | |
| 10 | g.94298420T>C | CA377641740 | PLCE1 | c.4285T>C (p.Ser1429Pro) c.*1752T>C (n.*1752T>C) n.1944T>C n.628T>C c.*493T>C (n.*493T>C) c.4237T>C (p.Ser1413Pro) n.9417T>C n.2882T>C c.5077T>C (p.Ser1693Pro) c.5161T>C (p.Ser1721Pro) c.5209T>C (p.Ser1737Pro) c.4183T>C (p.Ser1395Pro) c.3764T>C c.3325T>C (p.Ser1109Pro) c.*1142T>C (n.*1142T>C) c.4478T>C c.4054T>C (p.Ser1352Pro) c.5251T>C (p.Ser1751Pro) c.5248T>C (p.Ser1750Pro) c.5203T>C (p.Ser1735Pro) c.4327T>C (p.Ser1443Pro) c.4096T>C (p.Ser1366Pro) | |
| 10 | g.94298420T>G | CA377641739 | PLCE1 | c.4285T>G (p.Ser1429Ala) c.*1752T>G (n.*1752T>G) n.1944T>G n.628T>G c.*493T>G (n.*493T>G) c.4237T>G (p.Ser1413Ala) n.9417T>G n.2882T>G c.5077T>G (p.Ser1693Ala) c.5161T>G (p.Ser1721Ala) c.5209T>G (p.Ser1737Ala) c.4183T>G (p.Ser1395Ala) c.3764T>G c.3325T>G (p.Ser1109Ala) c.*1142T>G (n.*1142T>G) c.4478T>G c.4054T>G (p.Ser1352Ala) c.5251T>G (p.Ser1751Ala) c.5248T>G (p.Ser1750Ala) c.5203T>G (p.Ser1735Ala) c.4327T>G (p.Ser1443Ala) c.4096T>G (p.Ser1366Ala) | |
| 10 | g.94298421C>A | CA377641741 | PLCE1 | c.4286C>A (p.Ser1429Tyr) c.*1753C>A (n.*1753C>A) n.1945C>A n.629C>A c.*494C>A (n.*494C>A) c.4238C>A (p.Ser1413Tyr) n.9418C>A n.2883C>A c.5078C>A (p.Ser1693Tyr) c.5162C>A (p.Ser1721Tyr) c.5210C>A (p.Ser1737Tyr) c.4184C>A (p.Ser1395Tyr) c.3765C>A c.3326C>A (p.Ser1109Tyr) c.*1143C>A (n.*1143C>A) c.4479C>A c.4055C>A (p.Ser1352Tyr) c.5252C>A (p.Ser1751Tyr) c.5249C>A (p.Ser1750Tyr) c.5204C>A (p.Ser1735Tyr) c.4328C>A (p.Ser1443Tyr) c.4097C>A (p.Ser1366Tyr) | |
| 10 | g.94298421C= | CA1928998385 | PLCE1 | c.4286C= (p.Ser1429=) c.*1753C= (n.*1753C=) n.1945C= n.629C= c.*494C= (n.*494C=) c.4238C= (p.Ser1413=) n.9418C= n.2883C= c.5078C= (p.Ser1693=) c.5162C= (p.Ser1721=) c.5210C= (p.Ser1737=) c.4184C= (p.Ser1395=) c.3765C= c.3326C= (p.Ser1109=) c.*1143C= (n.*1143C=) c.4479C= c.4055C= (p.Ser1352=) c.5252C= (p.Ser1751=) c.5249C= (p.Ser1750=) c.5204C= (p.Ser1735=) c.4328C= (p.Ser1443=) c.4097C= (p.Ser1366=) | |
| 10 | g.94298421C>G | CA377641742 | PLCE1 | c.4286C>G (p.Ser1429Cys) c.*1753C>G (n.*1753C>G) n.1945C>G n.629C>G c.*494C>G (n.*494C>G) c.4238C>G (p.Ser1413Cys) n.9418C>G n.2883C>G c.5078C>G (p.Ser1693Cys) c.5162C>G (p.Ser1721Cys) c.5210C>G (p.Ser1737Cys) c.4184C>G (p.Ser1395Cys) c.3765C>G c.3326C>G (p.Ser1109Cys) c.*1143C>G (n.*1143C>G) c.4479C>G c.4055C>G (p.Ser1352Cys) c.5252C>G (p.Ser1751Cys) c.5249C>G (p.Ser1750Cys) c.5204C>G (p.Ser1735Cys) c.4328C>G (p.Ser1443Cys) c.4097C>G (p.Ser1366Cys) | |
| 10 | g.94298421C>T | CA5613320 | PLCE1 | c.4286C>T (p.Ser1429Phe) c.*1753C>T (n.*1753C>T) n.1945C>T n.629C>T c.*494C>T (n.*494C>T) c.4238C>T (p.Ser1413Phe) n.9418C>T n.2883C>T c.5078C>T (p.Ser1693Phe) c.5162C>T (p.Ser1721Phe) c.5210C>T (p.Ser1737Phe) c.4184C>T (p.Ser1395Phe) c.3765C>T c.3326C>T (p.Ser1109Phe) c.*1143C>T (n.*1143C>T) c.4479C>T c.4055C>T (p.Ser1352Phe) c.5252C>T (p.Ser1751Phe) c.5249C>T (p.Ser1750Phe) c.5204C>T (p.Ser1735Phe) c.4328C>T (p.Ser1443Phe) c.4097C>T (p.Ser1366Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 10 | g.94298422C>A | CA470986423 | PLCE1 | c.4287C>A (p.Ser1429=) c.*1754C>A (n.*1754C>A) n.1946C>A n.630C>A c.*495C>A (n.*495C>A) c.4239C>A (p.Ser1413=) n.9419C>A n.2884C>A c.5079C>A (p.Ser1693=) c.5163C>A (p.Ser1721=) c.5211C>A (p.Ser1737=) c.4185C>A (p.Ser1395=) c.3766C>A c.3327C>A (p.Ser1109=) c.*1144C>A (n.*1144C>A) c.4480C>A c.4056C>A (p.Ser1352=) c.5253C>A (p.Ser1751=) c.5250C>A (p.Ser1750=) c.5205C>A (p.Ser1735=) c.4329C>A (p.Ser1443=) c.4098C>A (p.Ser1366=) | |
| 10 | g.94298422C>G | CA470986425 | PLCE1 | c.4287C>G (p.Ser1429=) c.*1754C>G (n.*1754C>G) n.1946C>G n.630C>G c.*495C>G (n.*495C>G) c.4239C>G (p.Ser1413=) n.9419C>G n.2884C>G c.5079C>G (p.Ser1693=) c.5163C>G (p.Ser1721=) c.5211C>G (p.Ser1737=) c.4185C>G (p.Ser1395=) c.3766C>G c.3327C>G (p.Ser1109=) c.*1144C>G (n.*1144C>G) c.4480C>G c.4056C>G (p.Ser1352=) c.5253C>G (p.Ser1751=) c.5250C>G (p.Ser1750=) c.5205C>G (p.Ser1735=) c.4329C>G (p.Ser1443=) c.4098C>G (p.Ser1366=) | gnomAD v4 |
| 10 | g.94298422C>T | CA470986427 | PLCE1 | c.4287C>T (p.Ser1429=) c.*1754C>T (n.*1754C>T) n.1946C>T n.630C>T c.*495C>T (n.*495C>T) c.4239C>T (p.Ser1413=) n.9419C>T n.2884C>T c.5079C>T (p.Ser1693=) c.5163C>T (p.Ser1721=) c.5211C>T (p.Ser1737=) c.4185C>T (p.Ser1395=) c.3766C>T c.3327C>T (p.Ser1109=) c.*1144C>T (n.*1144C>T) c.4480C>T c.4056C>T (p.Ser1352=) c.5253C>T (p.Ser1751=) c.5250C>T (p.Ser1750=) c.5205C>T (p.Ser1735=) c.4329C>T (p.Ser1443=) c.4098C>T (p.Ser1366=) | |
| 10 | g.94298423C>A | CA377641743 | PLCE1 | c.4288C>A (p.Pro1430Thr) c.*1755C>A (n.*1755C>A) n.1947C>A n.631C>A c.*496C>A (n.*496C>A) c.4240C>A (p.Pro1414Thr) n.9420C>A n.2885C>A c.5080C>A (p.Pro1694Thr) c.5164C>A (p.Pro1722Thr) c.5212C>A (p.Pro1738Thr) c.4186C>A (p.Pro1396Thr) c.3767C>A c.3328C>A (p.Pro1110Thr) c.*1145C>A (n.*1145C>A) c.4481C>A c.4057C>A (p.Pro1353Thr) c.5254C>A (p.Pro1752Thr) c.5251C>A (p.Pro1751Thr) c.5206C>A (p.Pro1736Thr) c.4330C>A (p.Pro1444Thr) c.4099C>A (p.Pro1367Thr) | |
| 10 | g.94298423C= | CA1928998386 | PLCE1 | c.4288C= (p.Pro1430=) c.*1755C= (n.*1755C=) n.1947C= n.631C= c.*496C= (n.*496C=) c.4240C= (p.Pro1414=) n.9420C= n.2885C= c.5080C= (p.Pro1694=) c.5164C= (p.Pro1722=) c.5212C= (p.Pro1738=) c.4186C= (p.Pro1396=) c.3767C= c.3328C= (p.Pro1110=) c.*1145C= (n.*1145C=) c.4481C= c.4057C= (p.Pro1353=) c.5254C= (p.Pro1752=) c.5251C= (p.Pro1751=) c.5206C= (p.Pro1736=) c.4330C= (p.Pro1444=) c.4099C= (p.Pro1367=) | |
| 10 | g.94298423C>G | CA211599594 | PLCE1 | c.4288C>G (p.Pro1430Ala) c.*1755C>G (n.*1755C>G) n.1947C>G n.631C>G c.*496C>G (n.*496C>G) c.4240C>G (p.Pro1414Ala) n.9420C>G n.2885C>G c.5080C>G (p.Pro1694Ala) c.5164C>G (p.Pro1722Ala) c.5212C>G (p.Pro1738Ala) c.4186C>G (p.Pro1396Ala) c.3767C>G c.3328C>G (p.Pro1110Ala) c.*1145C>G (n.*1145C>G) c.4481C>G c.4057C>G (p.Pro1353Ala) c.5254C>G (p.Pro1752Ala) c.5251C>G (p.Pro1751Ala) c.5206C>G (p.Pro1736Ala) c.4330C>G (p.Pro1444Ala) c.4099C>G (p.Pro1367Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.94298423C>T | CA377641744 | PLCE1 | c.4288C>T (p.Pro1430Ser) c.*1755C>T (n.*1755C>T) n.1947C>T n.631C>T c.*496C>T (n.*496C>T) c.4240C>T (p.Pro1414Ser) n.9420C>T n.2885C>T c.5080C>T (p.Pro1694Ser) c.5164C>T (p.Pro1722Ser) c.5212C>T (p.Pro1738Ser) c.4186C>T (p.Pro1396Ser) c.3767C>T c.3328C>T (p.Pro1110Ser) c.*1145C>T (n.*1145C>T) c.4481C>T c.4057C>T (p.Pro1353Ser) c.5254C>T (p.Pro1752Ser) c.5251C>T (p.Pro1751Ser) c.5206C>T (p.Pro1736Ser) c.4330C>T (p.Pro1444Ser) c.4099C>T (p.Pro1367Ser) | gnomAD v4 COSMIC COSMIC COSMIC |
| 10 | g.94298424C>A | CA377641745 | PLCE1 | c.4289C>A (p.Pro1430His) c.*1756C>A (n.*1756C>A) n.1948C>A n.632C>A c.*497C>A (n.*497C>A) c.4241C>A (p.Pro1414His) n.9421C>A n.2886C>A c.5081C>A (p.Pro1694His) c.5165C>A (p.Pro1722His) c.5213C>A (p.Pro1738His) c.4187C>A (p.Pro1396His) c.3768C>A c.3329C>A (p.Pro1110His) c.*1146C>A (n.*1146C>A) c.4482C>A c.4058C>A (p.Pro1353His) c.5255C>A (p.Pro1752His) c.5252C>A (p.Pro1751His) c.5207C>A (p.Pro1736His) c.4331C>A (p.Pro1444His) c.4100C>A (p.Pro1367His) | |
| 10 | g.94298424C= | CA1928998387 | PLCE1 | c.4289C= (p.Pro1430=) c.*1756C= (n.*1756C=) n.1948C= n.632C= c.*497C= (n.*497C=) c.4241C= (p.Pro1414=) n.9421C= n.2886C= c.5081C= (p.Pro1694=) c.5165C= (p.Pro1722=) c.5213C= (p.Pro1738=) c.4187C= (p.Pro1396=) c.3768C= c.3329C= (p.Pro1110=) c.*1146C= (n.*1146C=) c.4482C= c.4058C= (p.Pro1353=) c.5255C= (p.Pro1752=) c.5252C= (p.Pro1751=) c.5207C= (p.Pro1736=) c.4331C= (p.Pro1444=) c.4100C= (p.Pro1367=) | |
| 10 | g.94298424C>G | CA5613321 | PLCE1 | c.4289C>G (p.Pro1430Arg) c.*1756C>G (n.*1756C>G) n.1948C>G n.632C>G c.*497C>G (n.*497C>G) c.4241C>G (p.Pro1414Arg) n.9421C>G n.2886C>G c.5081C>G (p.Pro1694Arg) c.5165C>G (p.Pro1722Arg) c.5213C>G (p.Pro1738Arg) c.4187C>G (p.Pro1396Arg) c.3768C>G c.3329C>G (p.Pro1110Arg) c.*1146C>G (n.*1146C>G) c.4482C>G c.4058C>G (p.Pro1353Arg) c.5255C>G (p.Pro1752Arg) c.5252C>G (p.Pro1751Arg) c.5207C>G (p.Pro1736Arg) c.4331C>G (p.Pro1444Arg) c.4100C>G (p.Pro1367Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |