Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.94298576C>A | CA377642070 | PLCE1 | c.4441C>A (p.Pro1481Thr) c.*1908C>A (n.*1908C>A) n.2100C>A n.784C>A c.*649C>A (n.*649C>A) c.4393C>A (p.Pro1465Thr) n.9573C>A n.3038C>A c.5233C>A (p.Pro1745Thr) c.5317C>A (p.Pro1773Thr) c.5365C>A (p.Pro1789Thr) c.4339C>A (p.Pro1447Thr) c.3920C>A c.3481C>A (p.Pro1161Thr) c.*1298C>A (n.*1298C>A) c.4634C>A c.5407C>A (p.Pro1803Thr) c.5404C>A (p.Pro1802Thr) c.5359C>A (p.Pro1787Thr) c.4483C>A (p.Pro1495Thr) c.4252C>A (p.Pro1418Thr) | |
10 | g.94298576C= | CA1928998445 | PLCE1 | c.4441C= (p.Pro1481=) c.*1908C= (n.*1908C=) n.2100C= n.784C= c.*649C= (n.*649C=) c.4393C= (p.Pro1465=) n.9573C= n.3038C= c.5233C= (p.Pro1745=) c.5317C= (p.Pro1773=) c.5365C= (p.Pro1789=) c.4339C= (p.Pro1447=) c.3920C= c.3481C= (p.Pro1161=) c.*1298C= (n.*1298C=) c.4634C= c.5407C= (p.Pro1803=) c.5404C= (p.Pro1802=) c.5359C= (p.Pro1787=) c.4483C= (p.Pro1495=) c.4252C= (p.Pro1418=) | |
10 | g.94298576C>G | CA377642071 | PLCE1 | c.4441C>G (p.Pro1481Ala) c.*1908C>G (n.*1908C>G) n.2100C>G n.784C>G c.*649C>G (n.*649C>G) c.4393C>G (p.Pro1465Ala) n.9573C>G n.3038C>G c.5233C>G (p.Pro1745Ala) c.5317C>G (p.Pro1773Ala) c.5365C>G (p.Pro1789Ala) c.4339C>G (p.Pro1447Ala) c.3920C>G c.3481C>G (p.Pro1161Ala) c.*1298C>G (n.*1298C>G) c.4634C>G c.5407C>G (p.Pro1803Ala) c.5404C>G (p.Pro1802Ala) c.5359C>G (p.Pro1787Ala) c.4483C>G (p.Pro1495Ala) c.4252C>G (p.Pro1418Ala) | gnomAD v4 |
10 | g.94298576C>T | CA5613347 | PLCE1 | c.4441C>T (p.Pro1481Ser) c.*1908C>T (n.*1908C>T) n.2100C>T n.784C>T c.*649C>T (n.*649C>T) c.4393C>T (p.Pro1465Ser) n.9573C>T n.3038C>T c.5233C>T (p.Pro1745Ser) c.5317C>T (p.Pro1773Ser) c.5365C>T (p.Pro1789Ser) c.4339C>T (p.Pro1447Ser) c.3920C>T c.3481C>T (p.Pro1161Ser) c.*1298C>T (n.*1298C>T) c.4634C>T c.5407C>T (p.Pro1803Ser) c.5404C>T (p.Pro1802Ser) c.5359C>T (p.Pro1787Ser) c.4483C>T (p.Pro1495Ser) c.4252C>T (p.Pro1418Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298577C>A | CA377642072 | PLCE1 | c.4442C>A (p.Pro1481His) c.*1909C>A (n.*1909C>A) n.2101C>A n.785C>A c.*650C>A (n.*650C>A) c.4394C>A (p.Pro1465His) n.9574C>A n.3039C>A c.5234C>A (p.Pro1745His) c.5318C>A (p.Pro1773His) c.5366C>A (p.Pro1789His) c.4340C>A (p.Pro1447His) c.3921C>A c.3482C>A (p.Pro1161His) c.*1299C>A (n.*1299C>A) c.4635C>A c.5408C>A (p.Pro1803His) c.5405C>A (p.Pro1802His) c.5360C>A (p.Pro1787His) c.4484C>A (p.Pro1495His) c.4253C>A (p.Pro1418His) | |
10 | g.94298577C>G | CA377642073 | PLCE1 | c.4442C>G (p.Pro1481Arg) c.*1909C>G (n.*1909C>G) n.2101C>G n.785C>G c.*650C>G (n.*650C>G) c.4394C>G (p.Pro1465Arg) n.9574C>G n.3039C>G c.5234C>G (p.Pro1745Arg) c.5318C>G (p.Pro1773Arg) c.5366C>G (p.Pro1789Arg) c.4340C>G (p.Pro1447Arg) c.3921C>G c.3482C>G (p.Pro1161Arg) c.*1299C>G (n.*1299C>G) c.4635C>G c.5408C>G (p.Pro1803Arg) c.5405C>G (p.Pro1802Arg) c.5360C>G (p.Pro1787Arg) c.4484C>G (p.Pro1495Arg) c.4253C>G (p.Pro1418Arg) | |
10 | g.94298577C>T | CA377642074 | PLCE1 | c.4442C>T (p.Pro1481Leu) c.*1909C>T (n.*1909C>T) n.2101C>T n.785C>T c.*650C>T (n.*650C>T) c.4394C>T (p.Pro1465Leu) n.9574C>T n.3039C>T c.5234C>T (p.Pro1745Leu) c.5318C>T (p.Pro1773Leu) c.5366C>T (p.Pro1789Leu) c.4340C>T (p.Pro1447Leu) c.3921C>T c.3482C>T (p.Pro1161Leu) c.*1299C>T (n.*1299C>T) c.4635C>T c.5408C>T (p.Pro1803Leu) c.5405C>T (p.Pro1802Leu) c.5360C>T (p.Pro1787Leu) c.4484C>T (p.Pro1495Leu) c.4253C>T (p.Pro1418Leu) | |
10 | g.94298578T>A | CA470986586 | PLCE1 | c.4443T>A (p.Pro1481=) c.*1910T>A (n.*1910T>A) n.2102T>A n.786T>A c.*651T>A (n.*651T>A) c.4395T>A (p.Pro1465=) n.9575T>A n.3040T>A c.5235T>A (p.Pro1745=) c.5319T>A (p.Pro1773=) c.5367T>A (p.Pro1789=) c.4341T>A (p.Pro1447=) c.3922T>A c.3483T>A (p.Pro1161=) c.*1300T>A (n.*1300T>A) c.4636T>A c.5409T>A (p.Pro1803=) c.5406T>A (p.Pro1802=) c.5361T>A (p.Pro1787=) c.4485T>A (p.Pro1495=) c.4254T>A (p.Pro1418=) | |
10 | g.94298578T>C | CA470986587 | PLCE1 | c.4443T>C (p.Pro1481=) c.*1910T>C (n.*1910T>C) n.2102T>C n.786T>C c.*651T>C (n.*651T>C) c.4395T>C (p.Pro1465=) n.9575T>C n.3040T>C c.5235T>C (p.Pro1745=) c.5319T>C (p.Pro1773=) c.5367T>C (p.Pro1789=) c.4341T>C (p.Pro1447=) c.3922T>C c.3483T>C (p.Pro1161=) c.*1300T>C (n.*1300T>C) c.4636T>C c.5409T>C (p.Pro1803=) c.5406T>C (p.Pro1802=) c.5361T>C (p.Pro1787=) c.4485T>C (p.Pro1495=) c.4254T>C (p.Pro1418=) | |
10 | g.94298578T>G | CA470986588 | PLCE1 | c.4443T>G (p.Pro1481=) c.*1910T>G (n.*1910T>G) n.2102T>G n.786T>G c.*651T>G (n.*651T>G) c.4395T>G (p.Pro1465=) n.9575T>G n.3040T>G c.5235T>G (p.Pro1745=) c.5319T>G (p.Pro1773=) c.5367T>G (p.Pro1789=) c.4341T>G (p.Pro1447=) c.3922T>G c.3483T>G (p.Pro1161=) c.*1300T>G (n.*1300T>G) c.4636T>G c.5409T>G (p.Pro1803=) c.5406T>G (p.Pro1802=) c.5361T>G (p.Pro1787=) c.4485T>G (p.Pro1495=) c.4254T>G (p.Pro1418=) | |
10 | g.94298579G>A | CA377642075 | PLCE1 | c.4444G>A (p.Ala1482Thr) c.*1911G>A (n.*1911G>A) n.2103G>A n.787G>A c.*652G>A (n.*652G>A) c.4396G>A (p.Ala1466Thr) n.9576G>A n.3041G>A c.5236G>A (p.Ala1746Thr) c.5320G>A (p.Ala1774Thr) c.5368G>A (p.Ala1790Thr) c.4342G>A (p.Ala1448Thr) c.3923G>A c.3484G>A (p.Ala1162Thr) c.*1301G>A (n.*1301G>A) c.4637G>A c.5410G>A (p.Ala1804Thr) c.5407G>A (p.Ala1803Thr) c.5362G>A (p.Ala1788Thr) c.4486G>A (p.Ala1496Thr) c.4255G>A (p.Ala1419Thr) | |
10 | g.94298579G>C | CA377642076 | PLCE1 | c.4444G>C (p.Ala1482Pro) c.*1911G>C (n.*1911G>C) n.2103G>C n.787G>C c.*652G>C (n.*652G>C) c.4396G>C (p.Ala1466Pro) n.9576G>C n.3041G>C c.5236G>C (p.Ala1746Pro) c.5320G>C (p.Ala1774Pro) c.5368G>C (p.Ala1790Pro) c.4342G>C (p.Ala1448Pro) c.3923G>C c.3484G>C (p.Ala1162Pro) c.*1301G>C (n.*1301G>C) c.4637G>C c.5410G>C (p.Ala1804Pro) c.5407G>C (p.Ala1803Pro) c.5362G>C (p.Ala1788Pro) c.4486G>C (p.Ala1496Pro) c.4255G>C (p.Ala1419Pro) | |
10 | g.94298579G>T | CA377642077 | PLCE1 | c.4444G>T (p.Ala1482Ser) c.*1911G>T (n.*1911G>T) n.2103G>T n.787G>T c.*652G>T (n.*652G>T) c.4396G>T (p.Ala1466Ser) n.9576G>T n.3041G>T c.5236G>T (p.Ala1746Ser) c.5320G>T (p.Ala1774Ser) c.5368G>T (p.Ala1790Ser) c.4342G>T (p.Ala1448Ser) c.3923G>T c.3484G>T (p.Ala1162Ser) c.*1301G>T (n.*1301G>T) c.4637G>T c.5410G>T (p.Ala1804Ser) c.5407G>T (p.Ala1803Ser) c.5362G>T (p.Ala1788Ser) c.4486G>T (p.Ala1496Ser) c.4255G>T (p.Ala1419Ser) | |
10 | g.94298580C>A | CA377642078 | PLCE1 | c.4445C>A (p.Ala1482Asp) c.*1912C>A (n.*1912C>A) n.2104C>A n.788C>A c.*653C>A (n.*653C>A) c.4397C>A (p.Ala1466Asp) n.9577C>A n.3042C>A c.5237C>A (p.Ala1746Asp) c.5321C>A (p.Ala1774Asp) c.5369C>A (p.Ala1790Asp) c.4343C>A (p.Ala1448Asp) c.3924C>A c.3485C>A (p.Ala1162Asp) c.*1302C>A (n.*1302C>A) c.4638C>A c.5411C>A (p.Ala1804Asp) c.5408C>A (p.Ala1803Asp) c.5363C>A (p.Ala1788Asp) c.4487C>A (p.Ala1496Asp) c.4256C>A (p.Ala1419Asp) | |
10 | g.94298580C>G | CA377642079 | PLCE1 | c.4445C>G (p.Ala1482Gly) c.*1912C>G (n.*1912C>G) n.2104C>G n.788C>G c.*653C>G (n.*653C>G) c.4397C>G (p.Ala1466Gly) n.9577C>G n.3042C>G c.5237C>G (p.Ala1746Gly) c.5321C>G (p.Ala1774Gly) c.5369C>G (p.Ala1790Gly) c.4343C>G (p.Ala1448Gly) c.3924C>G c.3485C>G (p.Ala1162Gly) c.*1302C>G (n.*1302C>G) c.4638C>G c.5411C>G (p.Ala1804Gly) c.5408C>G (p.Ala1803Gly) c.5363C>G (p.Ala1788Gly) c.4487C>G (p.Ala1496Gly) c.4256C>G (p.Ala1419Gly) | |
10 | g.94298580C>T | CA377642080 | PLCE1 | c.4445C>T (p.Ala1482Val) c.*1912C>T (n.*1912C>T) n.2104C>T n.788C>T c.*653C>T (n.*653C>T) c.4397C>T (p.Ala1466Val) n.9577C>T n.3042C>T c.5237C>T (p.Ala1746Val) c.5321C>T (p.Ala1774Val) c.5369C>T (p.Ala1790Val) c.4343C>T (p.Ala1448Val) c.3924C>T c.3485C>T (p.Ala1162Val) c.*1302C>T (n.*1302C>T) c.4638C>T c.5411C>T (p.Ala1804Val) c.5408C>T (p.Ala1803Val) c.5363C>T (p.Ala1788Val) c.4487C>T (p.Ala1496Val) c.4256C>T (p.Ala1419Val) | |
10 | g.94298581T>A | CA470986589 | PLCE1 | c.4446T>A (p.Ala1482=) c.*1913T>A (n.*1913T>A) n.2105T>A n.789T>A c.*654T>A (n.*654T>A) c.4398T>A (p.Ala1466=) n.9578T>A n.3043T>A c.5238T>A (p.Ala1746=) c.5322T>A (p.Ala1774=) c.5370T>A (p.Ala1790=) c.4344T>A (p.Ala1448=) c.3925T>A c.3486T>A (p.Ala1162=) c.*1303T>A (n.*1303T>A) c.4639T>A c.5412T>A (p.Ala1804=) c.5409T>A (p.Ala1803=) c.5364T>A (p.Ala1788=) c.4488T>A (p.Ala1496=) c.4257T>A (p.Ala1419=) | |
10 | g.94298581T>C | CA470986591 | PLCE1 | c.4446T>C (p.Ala1482=) c.*1913T>C (n.*1913T>C) n.2105T>C n.789T>C c.*654T>C (n.*654T>C) c.4398T>C (p.Ala1466=) n.9578T>C n.3043T>C c.5238T>C (p.Ala1746=) c.5322T>C (p.Ala1774=) c.5370T>C (p.Ala1790=) c.4344T>C (p.Ala1448=) c.3925T>C c.3486T>C (p.Ala1162=) c.*1303T>C (n.*1303T>C) c.4639T>C c.5412T>C (p.Ala1804=) c.5409T>C (p.Ala1803=) c.5364T>C (p.Ala1788=) c.4488T>C (p.Ala1496=) c.4257T>C (p.Ala1419=) | gnomAD v4 |
10 | g.94298581T>G | CA470986592 | PLCE1 | c.4446T>G (p.Ala1482=) c.*1913T>G (n.*1913T>G) n.2105T>G n.789T>G c.*654T>G (n.*654T>G) c.4398T>G (p.Ala1466=) n.9578T>G n.3043T>G c.5238T>G (p.Ala1746=) c.5322T>G (p.Ala1774=) c.5370T>G (p.Ala1790=) c.4344T>G (p.Ala1448=) c.3925T>G c.3486T>G (p.Ala1162=) c.*1303T>G (n.*1303T>G) c.4639T>G c.5412T>G (p.Ala1804=) c.5409T>G (p.Ala1803=) c.5364T>G (p.Ala1788=) c.4488T>G (p.Ala1496=) c.4257T>G (p.Ala1419=) | |
10 | g.94298582G>A | CA377642083 | PLCE1 | c.4447G>A (p.Ala1483Thr) c.*1914G>A (n.*1914G>A) n.2106G>A n.790G>A c.*655G>A (n.*655G>A) c.4399G>A (p.Ala1467Thr) n.9579G>A n.3044G>A c.5239G>A (p.Ala1747Thr) c.5323G>A (p.Ala1775Thr) c.5371G>A (p.Ala1791Thr) c.4345G>A (p.Ala1449Thr) c.3926G>A c.3487G>A (p.Ala1163Thr) c.*1304G>A (n.*1304G>A) c.4640G>A c.5413G>A (p.Ala1805Thr) c.5410G>A (p.Ala1804Thr) c.5365G>A (p.Ala1789Thr) c.4489G>A (p.Ala1497Thr) c.4258G>A (p.Ala1420Thr) | |
10 | g.94298582G>C | CA377642081 | PLCE1 | c.4447G>C (p.Ala1483Pro) c.*1914G>C (n.*1914G>C) n.2106G>C n.790G>C c.*655G>C (n.*655G>C) c.4399G>C (p.Ala1467Pro) n.9579G>C n.3044G>C c.5239G>C (p.Ala1747Pro) c.5323G>C (p.Ala1775Pro) c.5371G>C (p.Ala1791Pro) c.4345G>C (p.Ala1449Pro) c.3926G>C c.3487G>C (p.Ala1163Pro) c.*1304G>C (n.*1304G>C) c.4640G>C c.5413G>C (p.Ala1805Pro) c.5410G>C (p.Ala1804Pro) c.5365G>C (p.Ala1789Pro) c.4489G>C (p.Ala1497Pro) c.4258G>C (p.Ala1420Pro) | |
10 | g.94298582G>T | CA377642082 | PLCE1 | c.4447G>T (p.Ala1483Ser) c.*1914G>T (n.*1914G>T) n.2106G>T n.790G>T c.*655G>T (n.*655G>T) c.4399G>T (p.Ala1467Ser) n.9579G>T n.3044G>T c.5239G>T (p.Ala1747Ser) c.5323G>T (p.Ala1775Ser) c.5371G>T (p.Ala1791Ser) c.4345G>T (p.Ala1449Ser) c.3926G>T c.3487G>T (p.Ala1163Ser) c.*1304G>T (n.*1304G>T) c.4640G>T c.5413G>T (p.Ala1805Ser) c.5410G>T (p.Ala1804Ser) c.5365G>T (p.Ala1789Ser) c.4489G>T (p.Ala1497Ser) c.4258G>T (p.Ala1420Ser) | |
10 | g.94298583C>A | CA377642084 | PLCE1 | c.4448C>A (p.Ala1483Asp) c.*1915C>A (n.*1915C>A) n.2107C>A n.791C>A c.*656C>A (n.*656C>A) c.4400C>A (p.Ala1467Asp) n.9580C>A n.3045C>A c.5240C>A (p.Ala1747Asp) c.5324C>A (p.Ala1775Asp) c.5372C>A (p.Ala1791Asp) c.4346C>A (p.Ala1449Asp) c.3927C>A c.3488C>A (p.Ala1163Asp) c.*1305C>A (n.*1305C>A) c.4641C>A c.5414C>A (p.Ala1805Asp) c.5411C>A (p.Ala1804Asp) c.5366C>A (p.Ala1789Asp) c.4490C>A (p.Ala1497Asp) c.4259C>A (p.Ala1420Asp) | |
10 | g.94298583C>G | CA377642085 | PLCE1 | c.4448C>G (p.Ala1483Gly) c.*1915C>G (n.*1915C>G) n.2107C>G n.791C>G c.*656C>G (n.*656C>G) c.4400C>G (p.Ala1467Gly) n.9580C>G n.3045C>G c.5240C>G (p.Ala1747Gly) c.5324C>G (p.Ala1775Gly) c.5372C>G (p.Ala1791Gly) c.4346C>G (p.Ala1449Gly) c.3927C>G c.3488C>G (p.Ala1163Gly) c.*1305C>G (n.*1305C>G) c.4641C>G c.5414C>G (p.Ala1805Gly) c.5411C>G (p.Ala1804Gly) c.5366C>G (p.Ala1789Gly) c.4490C>G (p.Ala1497Gly) c.4259C>G (p.Ala1420Gly) | |
10 | g.94298583C>T | CA377642086 | PLCE1 | c.4448C>T (p.Ala1483Val) c.*1915C>T (n.*1915C>T) n.2107C>T n.791C>T c.*656C>T (n.*656C>T) c.4400C>T (p.Ala1467Val) n.9580C>T n.3045C>T c.5240C>T (p.Ala1747Val) c.5324C>T (p.Ala1775Val) c.5372C>T (p.Ala1791Val) c.4346C>T (p.Ala1449Val) c.3927C>T c.3488C>T (p.Ala1163Val) c.*1305C>T (n.*1305C>T) c.4641C>T c.5414C>T (p.Ala1805Val) c.5411C>T (p.Ala1804Val) c.5366C>T (p.Ala1789Val) c.4490C>T (p.Ala1497Val) c.4259C>T (p.Ala1420Val) | |
10 | g.94298584C>A | CA470986594 | PLCE1 | c.4449C>A (p.Ala1483=) c.*1916C>A (n.*1916C>A) n.2108C>A n.792C>A c.*657C>A (n.*657C>A) c.4401C>A (p.Ala1467=) n.9581C>A n.3046C>A c.5241C>A (p.Ala1747=) c.5325C>A (p.Ala1775=) c.5373C>A (p.Ala1791=) c.4347C>A (p.Ala1449=) c.3928C>A c.3489C>A (p.Ala1163=) c.*1306C>A (n.*1306C>A) c.4642C>A c.5415C>A (p.Ala1805=) c.5412C>A (p.Ala1804=) c.5367C>A (p.Ala1789=) c.4491C>A (p.Ala1497=) c.4260C>A (p.Ala1420=) | |
10 | g.94298584C>G | CA470986595 | PLCE1 | c.4449C>G (p.Ala1483=) c.*1916C>G (n.*1916C>G) n.2108C>G n.792C>G c.*657C>G (n.*657C>G) c.4401C>G (p.Ala1467=) n.9581C>G n.3046C>G c.5241C>G (p.Ala1747=) c.5325C>G (p.Ala1775=) c.5373C>G (p.Ala1791=) c.4347C>G (p.Ala1449=) c.3928C>G c.3489C>G (p.Ala1163=) c.*1306C>G (n.*1306C>G) c.4642C>G c.5415C>G (p.Ala1805=) c.5412C>G (p.Ala1804=) c.5367C>G (p.Ala1789=) c.4491C>G (p.Ala1497=) c.4260C>G (p.Ala1420=) | |
10 | g.94298584C>T | CA470986597 | PLCE1 | c.4449C>T (p.Ala1483=) c.*1916C>T (n.*1916C>T) n.2108C>T n.792C>T c.*657C>T (n.*657C>T) c.4401C>T (p.Ala1467=) n.9581C>T n.3046C>T c.5241C>T (p.Ala1747=) c.5325C>T (p.Ala1775=) c.5373C>T (p.Ala1791=) c.4347C>T (p.Ala1449=) c.3928C>T c.3489C>T (p.Ala1163=) c.*1306C>T (n.*1306C>T) c.4642C>T c.5415C>T (p.Ala1805=) c.5412C>T (p.Ala1804=) c.5367C>T (p.Ala1789=) c.4491C>T (p.Ala1497=) c.4260C>T (p.Ala1420=) | |
10 | g.94298585A>C | CA377642087 | PLCE1 | c.4450A>C (p.Thr1484Pro) c.*1917A>C (n.*1917A>C) n.2109A>C n.793A>C c.*658A>C (n.*658A>C) c.4402A>C (p.Thr1468Pro) n.9582A>C n.3047A>C c.5242A>C (p.Thr1748Pro) c.5326A>C (p.Thr1776Pro) c.5374A>C (p.Thr1792Pro) c.4348A>C (p.Thr1450Pro) c.3929A>C c.3490A>C (p.Thr1164Pro) c.*1307A>C (n.*1307A>C) c.4643A>C c.5416A>C (p.Thr1806Pro) c.5413A>C (p.Thr1805Pro) c.5368A>C (p.Thr1790Pro) c.4492A>C (p.Thr1498Pro) c.4261A>C (p.Thr1421Pro) | |
10 | g.94298585A>G | CA377642088 | PLCE1 | c.4450A>G (p.Thr1484Ala) c.*1917A>G (n.*1917A>G) n.2109A>G n.793A>G c.*658A>G (n.*658A>G) c.4402A>G (p.Thr1468Ala) n.9582A>G n.3047A>G c.5242A>G (p.Thr1748Ala) c.5326A>G (p.Thr1776Ala) c.5374A>G (p.Thr1792Ala) c.4348A>G (p.Thr1450Ala) c.3929A>G c.3490A>G (p.Thr1164Ala) c.*1307A>G (n.*1307A>G) c.4643A>G c.5416A>G (p.Thr1806Ala) c.5413A>G (p.Thr1805Ala) c.5368A>G (p.Thr1790Ala) c.4492A>G (p.Thr1498Ala) c.4261A>G (p.Thr1421Ala) | |
10 | g.94298585A>T | CA377642089 | PLCE1 | c.4450A>T (p.Thr1484Ser) c.*1917A>T (n.*1917A>T) n.2109A>T n.793A>T c.*658A>T (n.*658A>T) c.4402A>T (p.Thr1468Ser) n.9582A>T n.3047A>T c.5242A>T (p.Thr1748Ser) c.5326A>T (p.Thr1776Ser) c.5374A>T (p.Thr1792Ser) c.4348A>T (p.Thr1450Ser) c.3929A>T c.3490A>T (p.Thr1164Ser) c.*1307A>T (n.*1307A>T) c.4643A>T c.5416A>T (p.Thr1806Ser) c.5413A>T (p.Thr1805Ser) c.5368A>T (p.Thr1790Ser) c.4492A>T (p.Thr1498Ser) c.4261A>T (p.Thr1421Ser) | |
10 | g.94298586C>A | CA377642090 | PLCE1 | c.4451C>A (p.Thr1484Asn) c.*1918C>A (n.*1918C>A) n.2110C>A n.794C>A c.*659C>A (n.*659C>A) c.4403C>A (p.Thr1468Asn) n.9583C>A n.3048C>A c.5243C>A (p.Thr1748Asn) c.5327C>A (p.Thr1776Asn) c.5375C>A (p.Thr1792Asn) c.4349C>A (p.Thr1450Asn) c.3930C>A c.3491C>A (p.Thr1164Asn) c.*1308C>A (n.*1308C>A) c.4644C>A c.5417C>A (p.Thr1806Asn) c.5414C>A (p.Thr1805Asn) c.5369C>A (p.Thr1790Asn) c.4493C>A (p.Thr1498Asn) c.4262C>A (p.Thr1421Asn) | |
10 | g.94298586C>G | CA377642091 | PLCE1 | c.4451C>G (p.Thr1484Ser) c.*1918C>G (n.*1918C>G) n.2110C>G n.794C>G c.*659C>G (n.*659C>G) c.4403C>G (p.Thr1468Ser) n.9583C>G n.3048C>G c.5243C>G (p.Thr1748Ser) c.5327C>G (p.Thr1776Ser) c.5375C>G (p.Thr1792Ser) c.4349C>G (p.Thr1450Ser) c.3930C>G c.3491C>G (p.Thr1164Ser) c.*1308C>G (n.*1308C>G) c.4644C>G c.5417C>G (p.Thr1806Ser) c.5414C>G (p.Thr1805Ser) c.5369C>G (p.Thr1790Ser) c.4493C>G (p.Thr1498Ser) c.4262C>G (p.Thr1421Ser) | |
10 | g.94298586C>T | CA377642092 | PLCE1 | c.4451C>T (p.Thr1484Ile) c.*1918C>T (n.*1918C>T) n.2110C>T n.794C>T c.*659C>T (n.*659C>T) c.4403C>T (p.Thr1468Ile) n.9583C>T n.3048C>T c.5243C>T (p.Thr1748Ile) c.5327C>T (p.Thr1776Ile) c.5375C>T (p.Thr1792Ile) c.4349C>T (p.Thr1450Ile) c.3930C>T c.3491C>T (p.Thr1164Ile) c.*1308C>T (n.*1308C>T) c.4644C>T c.5417C>T (p.Thr1806Ile) c.5414C>T (p.Thr1805Ile) c.5369C>T (p.Thr1790Ile) c.4493C>T (p.Thr1498Ile) c.4262C>T (p.Thr1421Ile) | |
10 | g.94298587C>A | CA470986599 | PLCE1 | c.4452C>A (p.Thr1484=) c.*1919C>A (n.*1919C>A) n.2111C>A n.795C>A c.*660C>A (n.*660C>A) c.4404C>A (p.Thr1468=) n.9584C>A n.3049C>A c.5244C>A (p.Thr1748=) c.5328C>A (p.Thr1776=) c.5376C>A (p.Thr1792=) c.4350C>A (p.Thr1450=) c.3931C>A c.3492C>A (p.Thr1164=) c.*1309C>A (n.*1309C>A) c.4645C>A c.5418C>A (p.Thr1806=) c.5415C>A (p.Thr1805=) c.5370C>A (p.Thr1790=) c.4494C>A (p.Thr1498=) c.4263C>A (p.Thr1421=) | |
10 | g.94298587C= | CA1928998446 | PLCE1 | c.4452C= (p.Thr1484=) c.*1919C= (n.*1919C=) n.2111C= n.795C= c.*660C= (n.*660C=) c.4404C= (p.Thr1468=) n.9584C= n.3049C= c.5244C= (p.Thr1748=) c.5328C= (p.Thr1776=) c.5376C= (p.Thr1792=) c.4350C= (p.Thr1450=) c.3931C= c.3492C= (p.Thr1164=) c.*1309C= (n.*1309C=) c.4645C= c.5418C= (p.Thr1806=) c.5415C= (p.Thr1805=) c.5370C= (p.Thr1790=) c.4494C= (p.Thr1498=) c.4263C= (p.Thr1421=) | |
10 | g.94298587C>G | CA470986600 | PLCE1 | c.4452C>G (p.Thr1484=) c.*1919C>G (n.*1919C>G) n.2111C>G n.795C>G c.*660C>G (n.*660C>G) c.4404C>G (p.Thr1468=) n.9584C>G n.3049C>G c.5244C>G (p.Thr1748=) c.5328C>G (p.Thr1776=) c.5376C>G (p.Thr1792=) c.4350C>G (p.Thr1450=) c.3931C>G c.3492C>G (p.Thr1164=) c.*1309C>G (n.*1309C>G) c.4645C>G c.5418C>G (p.Thr1806=) c.5415C>G (p.Thr1805=) c.5370C>G (p.Thr1790=) c.4494C>G (p.Thr1498=) c.4263C>G (p.Thr1421=) | |
10 | g.94298587C>T | CA5613348 | PLCE1 | c.4452C>T (p.Thr1484=) c.*1919C>T (n.*1919C>T) n.2111C>T n.795C>T c.*660C>T (n.*660C>T) c.4404C>T (p.Thr1468=) n.9584C>T n.3049C>T c.5244C>T (p.Thr1748=) c.5328C>T (p.Thr1776=) c.5376C>T (p.Thr1792=) c.4350C>T (p.Thr1450=) c.3931C>T c.3492C>T (p.Thr1164=) c.*1309C>T (n.*1309C>T) c.4645C>T c.5418C>T (p.Thr1806=) c.5415C>T (p.Thr1805=) c.5370C>T (p.Thr1790=) c.4494C>T (p.Thr1498=) c.4263C>T (p.Thr1421=) | dbSNP ExAC gnomAD v2 |
10 | g.94298588C>A | CA377642095 | PLCE1 | c.4453C>A (p.Arg1485Ser) c.*1920C>A (n.*1920C>A) n.2112C>A n.796C>A c.*661C>A (n.*661C>A) c.4405C>A (p.Arg1469Ser) n.9585C>A n.3050C>A c.5245C>A (p.Arg1749Ser) c.5329C>A (p.Arg1777Ser) c.5377C>A (p.Arg1793Ser) c.4351C>A (p.Arg1451Ser) c.3932C>A c.3493C>A (p.Arg1165Ser) c.*1310C>A (n.*1310C>A) c.4646C>A c.5419C>A (p.Arg1807Ser) c.5416C>A (p.Arg1806Ser) c.5371C>A (p.Arg1791Ser) c.4495C>A (p.Arg1499Ser) c.4264C>A (p.Arg1422Ser) | |
10 | g.94298588C= | CA1928998447 | PLCE1 | c.4453C= (p.Arg1485=) c.*1920C= (n.*1920C=) n.2112C= n.796C= c.*661C= (n.*661C=) c.4405C= (p.Arg1469=) n.9585C= n.3050C= c.5245C= (p.Arg1749=) c.5329C= (p.Arg1777=) c.5377C= (p.Arg1793=) c.4351C= (p.Arg1451=) c.3932C= c.3493C= (p.Arg1165=) c.*1310C= (n.*1310C=) c.4646C= c.5419C= (p.Arg1807=) c.5416C= (p.Arg1806=) c.5371C= (p.Arg1791=) c.4495C= (p.Arg1499=) c.4264C= (p.Arg1422=) | |
10 | g.94298588C>G | CA377642094 | PLCE1 | c.4453C>G (p.Arg1485Gly) c.*1920C>G (n.*1920C>G) n.2112C>G n.796C>G c.*661C>G (n.*661C>G) c.4405C>G (p.Arg1469Gly) n.9585C>G n.3050C>G c.5245C>G (p.Arg1749Gly) c.5329C>G (p.Arg1777Gly) c.5377C>G (p.Arg1793Gly) c.4351C>G (p.Arg1451Gly) c.3932C>G c.3493C>G (p.Arg1165Gly) c.*1310C>G (n.*1310C>G) c.4646C>G c.5419C>G (p.Arg1807Gly) c.5416C>G (p.Arg1806Gly) c.5371C>G (p.Arg1791Gly) c.4495C>G (p.Arg1499Gly) c.4264C>G (p.Arg1422Gly) | gnomAD v4 |
10 | g.94298588C>T | CA377642093 | PLCE1 | c.4453C>T (p.Arg1485Cys) c.*1920C>T (n.*1920C>T) n.2112C>T n.796C>T c.*661C>T (n.*661C>T) c.4405C>T (p.Arg1469Cys) n.9585C>T n.3050C>T c.5245C>T (p.Arg1749Cys) c.5329C>T (p.Arg1777Cys) c.5377C>T (p.Arg1793Cys) c.4351C>T (p.Arg1451Cys) c.3932C>T c.3493C>T (p.Arg1165Cys) c.*1310C>T (n.*1310C>T) c.4646C>T c.5419C>T (p.Arg1807Cys) c.5416C>T (p.Arg1806Cys) c.5371C>T (p.Arg1791Cys) c.4495C>T (p.Arg1499Cys) c.4264C>T (p.Arg1422Cys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298589G>A | CA377642096 | PLCE1 | c.4454G>A (p.Arg1485His) c.*1921G>A (n.*1921G>A) n.2113G>A n.797G>A c.*662G>A (n.*662G>A) c.4406G>A (p.Arg1469His) n.9586G>A n.3051G>A c.5246G>A (p.Arg1749His) c.5330G>A (p.Arg1777His) c.5378G>A (p.Arg1793His) c.4352G>A (p.Arg1451His) c.3933G>A c.3494G>A (p.Arg1165His) c.*1311G>A (n.*1311G>A) c.4647G>A c.5420G>A (p.Arg1807His) c.5417G>A (p.Arg1806His) c.5372G>A (p.Arg1791His) c.4496G>A (p.Arg1499His) c.4265G>A (p.Arg1422His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298589G>C | CA377642097 | PLCE1 | c.4454G>C (p.Arg1485Pro) c.*1921G>C (n.*1921G>C) n.2113G>C n.797G>C c.*662G>C (n.*662G>C) c.4406G>C (p.Arg1469Pro) n.9586G>C n.3051G>C c.5246G>C (p.Arg1749Pro) c.5330G>C (p.Arg1777Pro) c.5378G>C (p.Arg1793Pro) c.4352G>C (p.Arg1451Pro) c.3933G>C c.3494G>C (p.Arg1165Pro) c.*1311G>C (n.*1311G>C) c.4647G>C c.5420G>C (p.Arg1807Pro) c.5417G>C (p.Arg1806Pro) c.5372G>C (p.Arg1791Pro) c.4496G>C (p.Arg1499Pro) c.4265G>C (p.Arg1422Pro) | |
10 | g.94298589G= | CA1928998448 | PLCE1 | c.4454G= (p.Arg1485=) c.*1921G= (n.*1921G=) n.2113G= n.797G= c.*662G= (n.*662G=) c.4406G= (p.Arg1469=) n.9586G= n.3051G= c.5246G= (p.Arg1749=) c.5330G= (p.Arg1777=) c.5378G= (p.Arg1793=) c.4352G= (p.Arg1451=) c.3933G= c.3494G= (p.Arg1165=) c.*1311G= (n.*1311G=) c.4647G= c.5420G= (p.Arg1807=) c.5417G= (p.Arg1806=) c.5372G= (p.Arg1791=) c.4496G= (p.Arg1499=) c.4265G= (p.Arg1422=) | |
10 | g.94298589G>T | CA377642098 | PLCE1 | c.4454G>T (p.Arg1485Leu) c.*1921G>T (n.*1921G>T) n.2113G>T n.797G>T c.*662G>T (n.*662G>T) c.4406G>T (p.Arg1469Leu) n.9586G>T n.3051G>T c.5246G>T (p.Arg1749Leu) c.5330G>T (p.Arg1777Leu) c.5378G>T (p.Arg1793Leu) c.4352G>T (p.Arg1451Leu) c.3933G>T c.3494G>T (p.Arg1165Leu) c.*1311G>T (n.*1311G>T) c.4647G>T c.5420G>T (p.Arg1807Leu) c.5417G>T (p.Arg1806Leu) c.5372G>T (p.Arg1791Leu) c.4496G>T (p.Arg1499Leu) c.4265G>T (p.Arg1422Leu) | |
10 | g.94298590C>A | CA470986604 | PLCE1 | c.4455C>A (p.Arg1485=) c.*1922C>A (n.*1922C>A) n.2114C>A n.798C>A c.*663C>A (n.*663C>A) c.4407C>A (p.Arg1469=) n.9587C>A n.3052C>A c.5247C>A (p.Arg1749=) c.5331C>A (p.Arg1777=) c.5379C>A (p.Arg1793=) c.4353C>A (p.Arg1451=) c.3934C>A c.3495C>A (p.Arg1165=) c.*1312C>A (n.*1312C>A) c.4648C>A c.5421C>A (p.Arg1807=) c.5418C>A (p.Arg1806=) c.5373C>A (p.Arg1791=) c.4497C>A (p.Arg1499=) c.4266C>A (p.Arg1422=) | |
10 | g.94298590C>G | CA470986603 | PLCE1 | c.4455C>G (p.Arg1485=) c.*1922C>G (n.*1922C>G) n.2114C>G n.798C>G c.*663C>G (n.*663C>G) c.4407C>G (p.Arg1469=) n.9587C>G n.3052C>G c.5247C>G (p.Arg1749=) c.5331C>G (p.Arg1777=) c.5379C>G (p.Arg1793=) c.4353C>G (p.Arg1451=) c.3934C>G c.3495C>G (p.Arg1165=) c.*1312C>G (n.*1312C>G) c.4648C>G c.5421C>G (p.Arg1807=) c.5418C>G (p.Arg1806=) c.5373C>G (p.Arg1791=) c.4497C>G (p.Arg1499=) c.4266C>G (p.Arg1422=) | |
10 | g.94298590C>T | CA470986602 | PLCE1 | c.4455C>T (p.Arg1485=) c.*1922C>T (n.*1922C>T) n.2114C>T n.798C>T c.*663C>T (n.*663C>T) c.4407C>T (p.Arg1469=) n.9587C>T n.3052C>T c.5247C>T (p.Arg1749=) c.5331C>T (p.Arg1777=) c.5379C>T (p.Arg1793=) c.4353C>T (p.Arg1451=) c.3934C>T c.3495C>T (p.Arg1165=) c.*1312C>T (n.*1312C>T) c.4648C>T c.5421C>T (p.Arg1807=) c.5418C>T (p.Arg1806=) c.5373C>T (p.Arg1791=) c.4497C>T (p.Arg1499=) c.4266C>T (p.Arg1422=) | |
10 | g.94298591A>C | CA377642099 | PLCE1 | c.4456A>C (p.Ile1486Leu) c.*1923A>C (n.*1923A>C) n.2115A>C n.799A>C c.*664A>C (n.*664A>C) c.4408A>C (p.Ile1470Leu) n.9588A>C n.3053A>C c.5248A>C (p.Ile1750Leu) c.5332A>C (p.Ile1778Leu) c.5380A>C (p.Ile1794Leu) c.4354A>C (p.Ile1452Leu) c.3935A>C c.3496A>C (p.Ile1166Leu) c.*1313A>C (n.*1313A>C) c.4649A>C c.5422A>C (p.Ile1808Leu) c.5419A>C (p.Ile1807Leu) c.5374A>C (p.Ile1792Leu) c.4498A>C (p.Ile1500Leu) c.4267A>C (p.Ile1423Leu) |