Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.94293539C>ACA377640528PLCE1c.4143C>A (p.Ser1381Arg)
c.*1610C>A (n.*1610C>A)
n.1802C>A
n.486C>A
c.*351C>A (n.*351C>A)
c.4095C>A (p.Ser1365Arg)
n.9275C>A
n.2740C>A
c.5036-4840C>A (n.5036-4840C>A)
c.5019C>A (p.Ser1673Arg)
c.5067C>A (p.Ser1689Arg)
c.4041C>A (p.Ser1347Arg)
c.3622C>A
c.3183C>A (p.Ser1061Arg)
c.*1000C>A (n.*1000C>A)
c.4336C>A
c.3912C>A (p.Ser1304Arg)
c.5109C>A (p.Ser1703Arg)
c.5106C>A (p.Ser1702Arg)
c.5061C>A (p.Ser1687Arg)
c.4185C>A (p.Ser1395Arg)
c.3954C>A (p.Ser1318Arg)
gnomAD v4
10g.94293539C>GCA377640530PLCE1c.4143C>G (p.Ser1381Arg)
c.*1610C>G (n.*1610C>G)
n.1802C>G
n.486C>G
c.*351C>G (n.*351C>G)
c.4095C>G (p.Ser1365Arg)
n.9275C>G
n.2740C>G
c.5036-4840C>G (n.5036-4840C>G)
c.5019C>G (p.Ser1673Arg)
c.5067C>G (p.Ser1689Arg)
c.4041C>G (p.Ser1347Arg)
c.3622C>G
c.3183C>G (p.Ser1061Arg)
c.*1000C>G (n.*1000C>G)
c.4336C>G
c.3912C>G (p.Ser1304Arg)
c.5109C>G (p.Ser1703Arg)
c.5106C>G (p.Ser1702Arg)
c.5061C>G (p.Ser1687Arg)
c.4185C>G (p.Ser1395Arg)
c.3954C>G (p.Ser1318Arg)
10g.94293539C>TCA470807438PLCE1c.4143C>T (p.Ser1381=)
c.*1610C>T (n.*1610C>T)
n.1802C>T
n.486C>T
c.*351C>T (n.*351C>T)
c.4095C>T (p.Ser1365=)
n.9275C>T
n.2740C>T
c.5036-4840C>T (n.5036-4840C>T)
c.5019C>T (p.Ser1673=)
c.5067C>T (p.Ser1689=)
c.4041C>T (p.Ser1347=)
c.3622C>T
c.3183C>T (p.Ser1061=)
c.*1000C>T (n.*1000C>T)
c.4336C>T
c.3912C>T (p.Ser1304=)
c.5109C>T (p.Ser1703=)
c.5106C>T (p.Ser1702=)
c.5061C>T (p.Ser1687=)
c.4185C>T (p.Ser1395=)
c.3954C>T (p.Ser1318=)
10g.94293540A=CA1928996185PLCE1c.4144A= (p.Arg1382=)
c.*1611A= (n.*1611A=)
n.1803A=
n.487A=
c.*352A= (n.*352A=)
c.4096A= (p.Arg1366=)
n.9276A=
n.2741A=
c.5036-4839A= (n.5036-4839A=)
c.5020A= (p.Arg1674=)
c.5068A= (p.Arg1690=)
c.4042A= (p.Arg1348=)
c.3623A=
c.3184A= (p.Arg1062=)
c.*1001A= (n.*1001A=)
c.4337A=
c.3913A= (p.Arg1305=)
c.5110A= (p.Arg1704=)
c.5107A= (p.Arg1703=)
c.5062A= (p.Arg1688=)
c.4186A= (p.Arg1396=)
c.3955A= (p.Arg1319=)
10g.94293540A>CCA5613286PLCE1c.4144A>C (p.Arg1382=)
c.*1611A>C (n.*1611A>C)
n.1803A>C
n.487A>C
c.*352A>C (n.*352A>C)
c.4096A>C (p.Arg1366=)
n.9276A>C
n.2741A>C
c.5036-4839A>C (n.5036-4839A>C)
c.5020A>C (p.Arg1674=)
c.5068A>C (p.Arg1690=)
c.4042A>C (p.Arg1348=)
c.3623A>C
c.3184A>C (p.Arg1062=)
c.*1001A>C (n.*1001A>C)
c.4337A>C
c.3913A>C (p.Arg1305=)
c.5110A>C (p.Arg1704=)
c.5107A>C (p.Arg1703=)
c.5062A>C (p.Arg1688=)
c.4186A>C (p.Arg1396=)
c.3955A>C (p.Arg1319=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94293540A>GCA377640533PLCE1c.4144A>G (p.Arg1382Gly)
c.*1611A>G (n.*1611A>G)
n.1803A>G
n.487A>G
c.*352A>G (n.*352A>G)
c.4096A>G (p.Arg1366Gly)
n.9276A>G
n.2741A>G
c.5036-4839A>G (n.5036-4839A>G)
c.5020A>G (p.Arg1674Gly)
c.5068A>G (p.Arg1690Gly)
c.4042A>G (p.Arg1348Gly)
c.3623A>G
c.3184A>G (p.Arg1062Gly)
c.*1001A>G (n.*1001A>G)
c.4337A>G
c.3913A>G (p.Arg1305Gly)
c.5110A>G (p.Arg1704Gly)
c.5107A>G (p.Arg1703Gly)
c.5062A>G (p.Arg1688Gly)
c.4186A>G (p.Arg1396Gly)
c.3955A>G (p.Arg1319Gly)
gnomAD v4
10g.94293540A>TCA377640535PLCE1c.4144A>T (p.Arg1382Ter)
c.*1611A>T (n.*1611A>T)
n.1803A>T
n.487A>T
c.*352A>T (n.*352A>T)
c.4096A>T (p.Arg1366Ter)
n.9276A>T
n.2741A>T
c.5036-4839A>T (n.5036-4839A>T)
c.5020A>T (p.Arg1674Ter)
c.5068A>T (p.Arg1690Ter)
c.4042A>T (p.Arg1348Ter)
c.3623A>T
c.3184A>T (p.Arg1062Ter)
c.*1001A>T (n.*1001A>T)
c.4337A>T
c.3913A>T (p.Arg1305Ter)
c.5110A>T (p.Arg1704Ter)
c.5107A>T (p.Arg1703Ter)
c.5062A>T (p.Arg1688Ter)
c.4186A>T (p.Arg1396Ter)
c.3955A>T (p.Arg1319Ter)
10g.94293541G>ACA377640541PLCE1c.4145G>A (p.Arg1382Lys)
c.*1612G>A (n.*1612G>A)
n.1804G>A
n.488G>A
c.*353G>A (n.*353G>A)
c.4097G>A (p.Arg1366Lys)
n.9277G>A
n.2742G>A
c.5036-4838G>A (n.5036-4838G>A)
c.5021G>A (p.Arg1674Lys)
c.5069G>A (p.Arg1690Lys)
c.4043G>A (p.Arg1348Lys)
c.3624G>A
c.3185G>A (p.Arg1062Lys)
c.*1002G>A (n.*1002G>A)
c.4338G>A
c.3914G>A (p.Arg1305Lys)
c.5111G>A (p.Arg1704Lys)
c.5108G>A (p.Arg1703Lys)
c.5063G>A (p.Arg1688Lys)
c.4187G>A (p.Arg1396Lys)
c.3956G>A (p.Arg1319Lys)
dbSNP gnomAD v2 gnomAD v4
10g.94293541G>CCA377640539PLCE1c.4145G>C (p.Arg1382Thr)
c.*1612G>C (n.*1612G>C)
n.1804G>C
n.488G>C
c.*353G>C (n.*353G>C)
c.4097G>C (p.Arg1366Thr)
n.9277G>C
n.2742G>C
c.5036-4838G>C (n.5036-4838G>C)
c.5021G>C (p.Arg1674Thr)
c.5069G>C (p.Arg1690Thr)
c.4043G>C (p.Arg1348Thr)
c.3624G>C
c.3185G>C (p.Arg1062Thr)
c.*1002G>C (n.*1002G>C)
c.4338G>C
c.3914G>C (p.Arg1305Thr)
c.5111G>C (p.Arg1704Thr)
c.5108G>C (p.Arg1703Thr)
c.5063G>C (p.Arg1688Thr)
c.4187G>C (p.Arg1396Thr)
c.3956G>C (p.Arg1319Thr)
dbSNP gnomAD v3 gnomAD v4
10g.94293541G=CA1928996186PLCE1c.4145G= (p.Arg1382=)
c.*1612G= (n.*1612G=)
n.1804G=
n.488G=
c.*353G= (n.*353G=)
c.4097G= (p.Arg1366=)
n.9277G=
n.2742G=
c.5036-4838G= (n.5036-4838G=)
c.5021G= (p.Arg1674=)
c.5069G= (p.Arg1690=)
c.4043G= (p.Arg1348=)
c.3624G=
c.3185G= (p.Arg1062=)
c.*1002G= (n.*1002G=)
c.4338G=
c.3914G= (p.Arg1305=)
c.5111G= (p.Arg1704=)
c.5108G= (p.Arg1703=)
c.5063G= (p.Arg1688=)
c.4187G= (p.Arg1396=)
c.3956G= (p.Arg1319=)
10g.94293541G>TCA377640538PLCE1c.4145G>T (p.Arg1382Ile)
c.*1612G>T (n.*1612G>T)
n.1804G>T
n.488G>T
c.*353G>T (n.*353G>T)
c.4097G>T (p.Arg1366Ile)
n.9277G>T
n.2742G>T
c.5036-4838G>T (n.5036-4838G>T)
c.5021G>T (p.Arg1674Ile)
c.5069G>T (p.Arg1690Ile)
c.4043G>T (p.Arg1348Ile)
c.3624G>T
c.3185G>T (p.Arg1062Ile)
c.*1002G>T (n.*1002G>T)
c.4338G>T
c.3914G>T (p.Arg1305Ile)
c.5111G>T (p.Arg1704Ile)
c.5108G>T (p.Arg1703Ile)
c.5063G>T (p.Arg1688Ile)
c.4187G>T (p.Arg1396Ile)
c.3956G>T (p.Arg1319Ile)
10g.94293542A>CCA377640543PLCE1c.4146A>C (p.Arg1382Ser)
c.*1613A>C (n.*1613A>C)
n.1805A>C
n.489A>C
c.*354A>C (n.*354A>C)
c.4098A>C (p.Arg1366Ser)
n.9278A>C
n.2743A>C
c.5036-4837A>C (n.5036-4837A>C)
c.5022A>C (p.Arg1674Ser)
c.5070A>C (p.Arg1690Ser)
c.4044A>C (p.Arg1348Ser)
c.3625A>C
c.3186A>C (p.Arg1062Ser)
c.*1003A>C (n.*1003A>C)
c.4339A>C
c.3915A>C (p.Arg1305Ser)
c.5112A>C (p.Arg1704Ser)
c.5109A>C (p.Arg1703Ser)
c.5064A>C (p.Arg1688Ser)
c.4188A>C (p.Arg1396Ser)
c.3957A>C (p.Arg1319Ser)
10g.94293542A>GCA470807445PLCE1c.4146A>G (p.Arg1382=)
c.*1613A>G (n.*1613A>G)
n.1805A>G
n.489A>G
c.*354A>G (n.*354A>G)
c.4098A>G (p.Arg1366=)
n.9278A>G
n.2743A>G
c.5036-4837A>G (n.5036-4837A>G)
c.5022A>G (p.Arg1674=)
c.5070A>G (p.Arg1690=)
c.4044A>G (p.Arg1348=)
c.3625A>G
c.3186A>G (p.Arg1062=)
c.*1003A>G (n.*1003A>G)
c.4339A>G
c.3915A>G (p.Arg1305=)
c.5112A>G (p.Arg1704=)
c.5109A>G (p.Arg1703=)
c.5064A>G (p.Arg1688=)
c.4188A>G (p.Arg1396=)
c.3957A>G (p.Arg1319=)
10g.94293542A>TCA377640545PLCE1c.4146A>T (p.Arg1382Ser)
c.*1613A>T (n.*1613A>T)
n.1805A>T
n.489A>T
c.*354A>T (n.*354A>T)
c.4098A>T (p.Arg1366Ser)
n.9278A>T
n.2743A>T
c.5036-4837A>T (n.5036-4837A>T)
c.5022A>T (p.Arg1674Ser)
c.5070A>T (p.Arg1690Ser)
c.4044A>T (p.Arg1348Ser)
c.3625A>T
c.3186A>T (p.Arg1062Ser)
c.*1003A>T (n.*1003A>T)
c.4339A>T
c.3915A>T (p.Arg1305Ser)
c.5112A>T (p.Arg1704Ser)
c.5109A>T (p.Arg1703Ser)
c.5064A>T (p.Arg1688Ser)
c.4188A>T (p.Arg1396Ser)
c.3957A>T (p.Arg1319Ser)
10g.94293543G>ACA377640547PLCE1c.4147G>A (p.Gly1383Arg)
c.*1614G>A (n.*1614G>A)
n.1806G>A
n.490G>A
c.*355G>A (n.*355G>A)
c.4099G>A (p.Gly1367Arg)
n.9279G>A
n.2744G>A
c.5036-4836G>A (n.5036-4836G>A)
c.5023G>A (p.Gly1675Arg)
c.5071G>A (p.Gly1691Arg)
c.4045G>A (p.Gly1349Arg)
c.3626G>A
c.3187G>A (p.Gly1063Arg)
c.*1004G>A (n.*1004G>A)
c.4340G>A
c.3916G>A (p.Gly1306Arg)
c.5113G>A (p.Gly1705Arg)
c.5110G>A (p.Gly1704Arg)
c.5065G>A (p.Gly1689Arg)
c.4189G>A (p.Gly1397Arg)
c.3958G>A (p.Gly1320Arg)
dbSNP gnomAD v4
10g.94293543G>CCA377640549PLCE1c.4147G>C (p.Gly1383Arg)
c.*1614G>C (n.*1614G>C)
n.1806G>C
n.490G>C
c.*355G>C (n.*355G>C)
c.4099G>C (p.Gly1367Arg)
n.9279G>C
n.2744G>C
c.5036-4836G>C (n.5036-4836G>C)
c.5023G>C (p.Gly1675Arg)
c.5071G>C (p.Gly1691Arg)
c.4045G>C (p.Gly1349Arg)
c.3626G>C
c.3187G>C (p.Gly1063Arg)
c.*1004G>C (n.*1004G>C)
c.4340G>C
c.3916G>C (p.Gly1306Arg)
c.5113G>C (p.Gly1705Arg)
c.5110G>C (p.Gly1704Arg)
c.5065G>C (p.Gly1689Arg)
c.4189G>C (p.Gly1397Arg)
c.3958G>C (p.Gly1320Arg)
dbSNP gnomAD v3 gnomAD v4
10g.94293543G=CA1928996187PLCE1c.4147G= (p.Gly1383=)
c.*1614G= (n.*1614G=)
n.1806G=
n.490G=
c.*355G= (n.*355G=)
c.4099G= (p.Gly1367=)
n.9279G=
n.2744G=
c.5036-4836G= (n.5036-4836G=)
c.5023G= (p.Gly1675=)
c.5071G= (p.Gly1691=)
c.4045G= (p.Gly1349=)
c.3626G=
c.3187G= (p.Gly1063=)
c.*1004G= (n.*1004G=)
c.4340G=
c.3916G= (p.Gly1306=)
c.5113G= (p.Gly1705=)
c.5110G= (p.Gly1704=)
c.5065G= (p.Gly1689=)
c.4189G= (p.Gly1397=)
c.3958G= (p.Gly1320=)
10g.94293543G>TCA377640551PLCE1c.4147G>T (p.Gly1383Ter)
c.*1614G>T (n.*1614G>T)
n.1806G>T
n.490G>T
c.*355G>T (n.*355G>T)
c.4099G>T (p.Gly1367Ter)
n.9279G>T
n.2744G>T
c.5036-4836G>T (n.5036-4836G>T)
c.5023G>T (p.Gly1675Ter)
c.5071G>T (p.Gly1691Ter)
c.4045G>T (p.Gly1349Ter)
c.3626G>T
c.3187G>T (p.Gly1063Ter)
c.*1004G>T (n.*1004G>T)
c.4340G>T
c.3916G>T (p.Gly1306Ter)
c.5113G>T (p.Gly1705Ter)
c.5110G>T (p.Gly1704Ter)
c.5065G>T (p.Gly1689Ter)
c.4189G>T (p.Gly1397Ter)
c.3958G>T (p.Gly1320Ter)
10g.94293544G>ACA377640553PLCE1c.4148G>A (p.Gly1383Glu)
c.*1615G>A (n.*1615G>A)
n.1807G>A
n.491G>A
c.*356G>A (n.*356G>A)
c.4100G>A (p.Gly1367Glu)
n.9280G>A
n.2745G>A
c.5036-4835G>A (n.5036-4835G>A)
c.5024G>A (p.Gly1675Glu)
c.5072G>A (p.Gly1691Glu)
c.4046G>A (p.Gly1349Glu)
c.3627G>A
c.3188G>A (p.Gly1063Glu)
c.*1005G>A (n.*1005G>A)
c.4341G>A
c.3917G>A (p.Gly1306Glu)
c.5114G>A (p.Gly1705Glu)
c.5111G>A (p.Gly1704Glu)
c.5066G>A (p.Gly1689Glu)
c.4190G>A (p.Gly1397Glu)
c.3959G>A (p.Gly1320Glu)
10g.94293544G>CCA377640555PLCE1c.4148G>C (p.Gly1383Ala)
c.*1615G>C (n.*1615G>C)
n.1807G>C
n.491G>C
c.*356G>C (n.*356G>C)
c.4100G>C (p.Gly1367Ala)
n.9280G>C
n.2745G>C
c.5036-4835G>C (n.5036-4835G>C)
c.5024G>C (p.Gly1675Ala)
c.5072G>C (p.Gly1691Ala)
c.4046G>C (p.Gly1349Ala)
c.3627G>C
c.3188G>C (p.Gly1063Ala)
c.*1005G>C (n.*1005G>C)
c.4341G>C
c.3917G>C (p.Gly1306Ala)
c.5114G>C (p.Gly1705Ala)
c.5111G>C (p.Gly1704Ala)
c.5066G>C (p.Gly1689Ala)
c.4190G>C (p.Gly1397Ala)
c.3959G>C (p.Gly1320Ala)
10g.94293544G>TCA377640557PLCE1c.4148G>T (p.Gly1383Val)
c.*1615G>T (n.*1615G>T)
n.1807G>T
n.491G>T
c.*356G>T (n.*356G>T)
c.4100G>T (p.Gly1367Val)
n.9280G>T
n.2745G>T
c.5036-4835G>T (n.5036-4835G>T)
c.5024G>T (p.Gly1675Val)
c.5072G>T (p.Gly1691Val)
c.4046G>T (p.Gly1349Val)
c.3627G>T
c.3188G>T (p.Gly1063Val)
c.*1005G>T (n.*1005G>T)
c.4341G>T
c.3917G>T (p.Gly1306Val)
c.5114G>T (p.Gly1705Val)
c.5111G>T (p.Gly1704Val)
c.5066G>T (p.Gly1689Val)
c.4190G>T (p.Gly1397Val)
c.3959G>T (p.Gly1320Val)
10g.94293545A>CCA470807452PLCE1c.4149A>C (p.Gly1383=)
c.*1616A>C (n.*1616A>C)
n.1808A>C
n.492A>C
c.*357A>C (n.*357A>C)
c.4101A>C (p.Gly1367=)
n.9281A>C
n.2746A>C
c.5036-4834A>C (n.5036-4834A>C)
c.5025A>C (p.Gly1675=)
c.5073A>C (p.Gly1691=)
c.4047A>C (p.Gly1349=)
c.3628A>C
c.3189A>C (p.Gly1063=)
c.*1006A>C (n.*1006A>C)
c.4342A>C
c.3918A>C (p.Gly1306=)
c.5115A>C (p.Gly1705=)
c.5112A>C (p.Gly1704=)
c.5067A>C (p.Gly1689=)
c.4191A>C (p.Gly1397=)
c.3960A>C (p.Gly1320=)
10g.94293545A>GCA470807453PLCE1c.4149A>G (p.Gly1383=)
c.*1616A>G (n.*1616A>G)
n.1808A>G
n.492A>G
c.*357A>G (n.*357A>G)
c.4101A>G (p.Gly1367=)
n.9281A>G
n.2746A>G
c.5036-4834A>G (n.5036-4834A>G)
c.5025A>G (p.Gly1675=)
c.5073A>G (p.Gly1691=)
c.4047A>G (p.Gly1349=)
c.3628A>G
c.3189A>G (p.Gly1063=)
c.*1006A>G (n.*1006A>G)
c.4342A>G
c.3918A>G (p.Gly1306=)
c.5115A>G (p.Gly1705=)
c.5112A>G (p.Gly1704=)
c.5067A>G (p.Gly1689=)
c.4191A>G (p.Gly1397=)
c.3960A>G (p.Gly1320=)
10g.94293545A>TCA470807455PLCE1c.4149A>T (p.Gly1383=)
c.*1616A>T (n.*1616A>T)
n.1808A>T
n.492A>T
c.*357A>T (n.*357A>T)
c.4101A>T (p.Gly1367=)
n.9281A>T
n.2746A>T
c.5036-4834A>T (n.5036-4834A>T)
c.5025A>T (p.Gly1675=)
c.5073A>T (p.Gly1691=)
c.4047A>T (p.Gly1349=)
c.3628A>T
c.3189A>T (p.Gly1063=)
c.*1006A>T (n.*1006A>T)
c.4342A>T
c.3918A>T (p.Gly1306=)
c.5115A>T (p.Gly1705=)
c.5112A>T (p.Gly1704=)
c.5067A>T (p.Gly1689=)
c.4191A>T (p.Gly1397=)
c.3960A>T (p.Gly1320=)
10g.94293546A>CCA377640559PLCE1c.4150A>C (p.Lys1384Gln)
c.*1617A>C (n.*1617A>C)
n.1809A>C
n.493A>C
c.*358A>C (n.*358A>C)
c.4102A>C (p.Lys1368Gln)
n.9282A>C
n.2747A>C
c.5036-4833A>C (n.5036-4833A>C)
c.5026A>C (p.Lys1676Gln)
c.5074A>C (p.Lys1692Gln)
c.4048A>C (p.Lys1350Gln)
c.3629A>C
c.3190A>C (p.Lys1064Gln)
c.*1007A>C (n.*1007A>C)
c.4343A>C
c.3919A>C (p.Lys1307Gln)
c.5116A>C (p.Lys1706Gln)
c.5113A>C (p.Lys1705Gln)
c.5068A>C (p.Lys1690Gln)
c.4192A>C (p.Lys1398Gln)
c.3961A>C (p.Lys1321Gln)
10g.94293546A>GCA377640561PLCE1c.4150A>G (p.Lys1384Glu)
c.*1617A>G (n.*1617A>G)
n.1809A>G
n.493A>G
c.*358A>G (n.*358A>G)
c.4102A>G (p.Lys1368Glu)
n.9282A>G
n.2747A>G
c.5036-4833A>G (n.5036-4833A>G)
c.5026A>G (p.Lys1676Glu)
c.5074A>G (p.Lys1692Glu)
c.4048A>G (p.Lys1350Glu)
c.3629A>G
c.3190A>G (p.Lys1064Glu)
c.*1007A>G (n.*1007A>G)
c.4343A>G
c.3919A>G (p.Lys1307Glu)
c.5116A>G (p.Lys1706Glu)
c.5113A>G (p.Lys1705Glu)
c.5068A>G (p.Lys1690Glu)
c.4192A>G (p.Lys1398Glu)
c.3961A>G (p.Lys1321Glu)
10g.94293546A>TCA377640563PLCE1c.4150A>T (p.Lys1384Ter)
c.*1617A>T (n.*1617A>T)
n.1809A>T
n.493A>T
c.*358A>T (n.*358A>T)
c.4102A>T (p.Lys1368Ter)
n.9282A>T
n.2747A>T
c.5036-4833A>T (n.5036-4833A>T)
c.5026A>T (p.Lys1676Ter)
c.5074A>T (p.Lys1692Ter)
c.4048A>T (p.Lys1350Ter)
c.3629A>T
c.3190A>T (p.Lys1064Ter)
c.*1007A>T (n.*1007A>T)
c.4343A>T
c.3919A>T (p.Lys1307Ter)
c.5116A>T (p.Lys1706Ter)
c.5113A>T (p.Lys1705Ter)
c.5068A>T (p.Lys1690Ter)
c.4192A>T (p.Lys1398Ter)
c.3961A>T (p.Lys1321Ter)
10g.94293547A>CCA377640564PLCE1c.4151A>C (p.Lys1384Thr)
c.*1618A>C (n.*1618A>C)
n.1810A>C
n.494A>C
c.*359A>C (n.*359A>C)
c.4103A>C (p.Lys1368Thr)
n.9283A>C
n.2748A>C
c.5036-4832A>C (n.5036-4832A>C)
c.5027A>C (p.Lys1676Thr)
c.5075A>C (p.Lys1692Thr)
c.4049A>C (p.Lys1350Thr)
c.3630A>C
c.3191A>C (p.Lys1064Thr)
c.*1008A>C (n.*1008A>C)
c.4344A>C
c.3920A>C (p.Lys1307Thr)
c.5117A>C (p.Lys1706Thr)
c.5114A>C (p.Lys1705Thr)
c.5069A>C (p.Lys1690Thr)
c.4193A>C (p.Lys1398Thr)
c.3962A>C (p.Lys1321Thr)
10g.94293547A>GCA377640566PLCE1c.4151A>G (p.Lys1384Arg)
c.*1618A>G (n.*1618A>G)
n.1810A>G
n.494A>G
c.*359A>G (n.*359A>G)
c.4103A>G (p.Lys1368Arg)
n.9283A>G
n.2748A>G
c.5036-4832A>G (n.5036-4832A>G)
c.5027A>G (p.Lys1676Arg)
c.5075A>G (p.Lys1692Arg)
c.4049A>G (p.Lys1350Arg)
c.3630A>G
c.3191A>G (p.Lys1064Arg)
c.*1008A>G (n.*1008A>G)
c.4344A>G
c.3920A>G (p.Lys1307Arg)
c.5117A>G (p.Lys1706Arg)
c.5114A>G (p.Lys1705Arg)
c.5069A>G (p.Lys1690Arg)
c.4193A>G (p.Lys1398Arg)
c.3962A>G (p.Lys1321Arg)
10g.94293547A>TCA377640568PLCE1c.4151A>T (p.Lys1384Ile)
c.*1618A>T (n.*1618A>T)
n.1810A>T
n.494A>T
c.*359A>T (n.*359A>T)
c.4103A>T (p.Lys1368Ile)
n.9283A>T
n.2748A>T
c.5036-4832A>T (n.5036-4832A>T)
c.5027A>T (p.Lys1676Ile)
c.5075A>T (p.Lys1692Ile)
c.4049A>T (p.Lys1350Ile)
c.3630A>T
c.3191A>T (p.Lys1064Ile)
c.*1008A>T (n.*1008A>T)
c.4344A>T
c.3920A>T (p.Lys1307Ile)
c.5117A>T (p.Lys1706Ile)
c.5114A>T (p.Lys1705Ile)
c.5069A>T (p.Lys1690Ile)
c.4193A>T (p.Lys1398Ile)
c.3962A>T (p.Lys1321Ile)
10g.94293548A>CCA377640570PLCE1c.4152A>C (p.Lys1384Asn)
c.*1619A>C (n.*1619A>C)
n.1811A>C
n.495A>C
c.*360A>C (n.*360A>C)
c.4104A>C (p.Lys1368Asn)
n.9284A>C
n.2749A>C
c.5036-4831A>C (n.5036-4831A>C)
c.5028A>C (p.Lys1676Asn)
c.5076A>C (p.Lys1692Asn)
c.4050A>C (p.Lys1350Asn)
c.3631A>C
c.3192A>C (p.Lys1064Asn)
c.*1009A>C (n.*1009A>C)
c.4345A>C
c.3921A>C (p.Lys1307Asn)
c.5118A>C (p.Lys1706Asn)
c.5115A>C (p.Lys1705Asn)
c.5070A>C (p.Lys1690Asn)
c.4194A>C (p.Lys1398Asn)
c.3963A>C (p.Lys1321Asn)
10g.94293548A>GCA470807461PLCE1c.4152A>G (p.Lys1384=)
c.*1619A>G (n.*1619A>G)
n.1811A>G
n.495A>G
c.*360A>G (n.*360A>G)
c.4104A>G (p.Lys1368=)
n.9284A>G
n.2749A>G
c.5036-4831A>G (n.5036-4831A>G)
c.5028A>G (p.Lys1676=)
c.5076A>G (p.Lys1692=)
c.4050A>G (p.Lys1350=)
c.3631A>G
c.3192A>G (p.Lys1064=)
c.*1009A>G (n.*1009A>G)
c.4345A>G
c.3921A>G (p.Lys1307=)
c.5118A>G (p.Lys1706=)
c.5115A>G (p.Lys1705=)
c.5070A>G (p.Lys1690=)
c.4194A>G (p.Lys1398=)
c.3963A>G (p.Lys1321=)
10g.94293548A>TCA377640572PLCE1c.4152A>T (p.Lys1384Asn)
c.*1619A>T (n.*1619A>T)
n.1811A>T
n.495A>T
c.*360A>T (n.*360A>T)
c.4104A>T (p.Lys1368Asn)
n.9284A>T
n.2749A>T
c.5036-4831A>T (n.5036-4831A>T)
c.5028A>T (p.Lys1676Asn)
c.5076A>T (p.Lys1692Asn)
c.4050A>T (p.Lys1350Asn)
c.3631A>T
c.3192A>T (p.Lys1064Asn)
c.*1009A>T (n.*1009A>T)
c.4345A>T
c.3921A>T (p.Lys1307Asn)
c.5118A>T (p.Lys1706Asn)
c.5115A>T (p.Lys1705Asn)
c.5070A>T (p.Lys1690Asn)
c.4194A>T (p.Lys1398Asn)
c.3963A>T (p.Lys1321Asn)
10g.94293549delCA2610239470PLCE1c.4153del (p.Glu1385LysfsTer16)
c.*1620del (n.*1620del)
n.1812del
n.496del
c.*361del (n.*361del)
c.4105del (p.Glu1369LysfsTer16)
n.9285del
n.2750del
c.5036-4830del (n.5036-4830del)
c.5029del (p.Glu1677LysfsTer16)
c.5077del (p.Glu1693LysfsTer16)
c.4051del (p.Glu1351LysfsTer16)
c.3632del
c.3193del (p.Glu1065LysfsTer16)
c.*1010del (n.*1010del)
c.4346del
c.3922del (p.Glu1308LysfsTer16)
c.5119del (p.Glu1707LysfsTer16)
c.5116del (p.Glu1706LysfsTer16)
c.5071del (p.Glu1691LysfsTer16)
c.4195del (p.Glu1399LysfsTer16)
c.3964del (p.Glu1322LysfsTer16)
gnomAD v4
10g.94293549G>ACA377640574PLCE1c.4153G>A (p.Glu1385Lys)
c.*1620G>A (n.*1620G>A)
n.1812G>A
n.496G>A
c.*361G>A (n.*361G>A)
c.4105G>A (p.Glu1369Lys)
n.9285G>A
n.2750G>A
c.5036-4830G>A (n.5036-4830G>A)
c.5029G>A (p.Glu1677Lys)
c.5077G>A (p.Glu1693Lys)
c.4051G>A (p.Glu1351Lys)
c.3632G>A
c.3193G>A (p.Glu1065Lys)
c.*1010G>A (n.*1010G>A)
c.4346G>A
c.3922G>A (p.Glu1308Lys)
c.5119G>A (p.Glu1707Lys)
c.5116G>A (p.Glu1706Lys)
c.5071G>A (p.Glu1691Lys)
c.4195G>A (p.Glu1399Lys)
c.3964G>A (p.Glu1322Lys)
10g.94293549G>CCA377640576PLCE1c.4153G>C (p.Glu1385Gln)
c.*1620G>C (n.*1620G>C)
n.1812G>C
n.496G>C
c.*361G>C (n.*361G>C)
c.4105G>C (p.Glu1369Gln)
n.9285G>C
n.2750G>C
c.5036-4830G>C (n.5036-4830G>C)
c.5029G>C (p.Glu1677Gln)
c.5077G>C (p.Glu1693Gln)
c.4051G>C (p.Glu1351Gln)
c.3632G>C
c.3193G>C (p.Glu1065Gln)
c.*1010G>C (n.*1010G>C)
c.4346G>C
c.3922G>C (p.Glu1308Gln)
c.5119G>C (p.Glu1707Gln)
c.5116G>C (p.Glu1706Gln)
c.5071G>C (p.Glu1691Gln)
c.4195G>C (p.Glu1399Gln)
c.3964G>C (p.Glu1322Gln)
10g.94293549G>TCA377640578PLCE1c.4153G>T (p.Glu1385Ter)
c.*1620G>T (n.*1620G>T)
n.1812G>T
n.496G>T
c.*361G>T (n.*361G>T)
c.4105G>T (p.Glu1369Ter)
n.9285G>T
n.2750G>T
c.5036-4830G>T (n.5036-4830G>T)
c.5029G>T (p.Glu1677Ter)
c.5077G>T (p.Glu1693Ter)
c.4051G>T (p.Glu1351Ter)
c.3632G>T
c.3193G>T (p.Glu1065Ter)
c.*1010G>T (n.*1010G>T)
c.4346G>T
c.3922G>T (p.Glu1308Ter)
c.5119G>T (p.Glu1707Ter)
c.5116G>T (p.Glu1706Ter)
c.5071G>T (p.Glu1691Ter)
c.4195G>T (p.Glu1399Ter)
c.3964G>T (p.Glu1322Ter)
10g.94293550A>CCA377640580PLCE1c.4154A>C (p.Glu1385Ala)
c.*1621A>C (n.*1621A>C)
n.1813A>C
n.497A>C
c.*362A>C (n.*362A>C)
c.4106A>C (p.Glu1369Ala)
n.9286A>C
n.2751A>C
c.5036-4829A>C (n.5036-4829A>C)
c.5030A>C (p.Glu1677Ala)
c.5078A>C (p.Glu1693Ala)
c.4052A>C (p.Glu1351Ala)
c.3633A>C
c.3194A>C (p.Glu1065Ala)
c.*1011A>C (n.*1011A>C)
c.4347A>C
c.3923A>C (p.Glu1308Ala)
c.5120A>C (p.Glu1707Ala)
c.5117A>C (p.Glu1706Ala)
c.5072A>C (p.Glu1691Ala)
c.4196A>C (p.Glu1399Ala)
c.3965A>C (p.Glu1322Ala)
gnomAD v4
10g.94293550A>GCA377640582PLCE1c.4154A>G (p.Glu1385Gly)
c.*1621A>G (n.*1621A>G)
n.1813A>G
n.497A>G
c.*362A>G (n.*362A>G)
c.4106A>G (p.Glu1369Gly)
n.9286A>G
n.2751A>G
c.5036-4829A>G (n.5036-4829A>G)
c.5030A>G (p.Glu1677Gly)
c.5078A>G (p.Glu1693Gly)
c.4052A>G (p.Glu1351Gly)
c.3633A>G
c.3194A>G (p.Glu1065Gly)
c.*1011A>G (n.*1011A>G)
c.4347A>G
c.3923A>G (p.Glu1308Gly)
c.5120A>G (p.Glu1707Gly)
c.5117A>G (p.Glu1706Gly)
c.5072A>G (p.Glu1691Gly)
c.4196A>G (p.Glu1399Gly)
c.3965A>G (p.Glu1322Gly)
10g.94293550A>TCA377640584PLCE1c.4154A>T (p.Glu1385Val)
c.*1621A>T (n.*1621A>T)
n.1813A>T
n.497A>T
c.*362A>T (n.*362A>T)
c.4106A>T (p.Glu1369Val)
n.9286A>T
n.2751A>T
c.5036-4829A>T (n.5036-4829A>T)
c.5030A>T (p.Glu1677Val)
c.5078A>T (p.Glu1693Val)
c.4052A>T (p.Glu1351Val)
c.3633A>T
c.3194A>T (p.Glu1065Val)
c.*1011A>T (n.*1011A>T)
c.4347A>T
c.3923A>T (p.Glu1308Val)
c.5120A>T (p.Glu1707Val)
c.5117A>T (p.Glu1706Val)
c.5072A>T (p.Glu1691Val)
c.4196A>T (p.Glu1399Val)
c.3965A>T (p.Glu1322Val)
10g.94293552delCA2527787106PLCE1c.4156del (p.Arg1386GlyfsTer15)
c.*1623del (n.*1623del)
n.1815del
n.499del
c.*364del (n.*364del)
c.4108del (p.Arg1370GlyfsTer15)
n.9288del
n.2753del
c.5036-4827del (n.5036-4827del)
c.5032del (p.Arg1678GlyfsTer15)
c.5080del (p.Arg1694GlyfsTer15)
c.4054del (p.Arg1352GlyfsTer15)
c.3635del
c.3196del (p.Arg1066GlyfsTer15)
c.*1013del (n.*1013del)
c.4349del
c.3925del (p.Arg1309GlyfsTer15)
c.5122del (p.Arg1708GlyfsTer15)
c.5119del (p.Arg1707GlyfsTer15)
c.5074del (p.Arg1692GlyfsTer15)
c.4198del (p.Arg1400GlyfsTer15)
c.3967del (p.Arg1323GlyfsTer15)
10g.94293551A>CCA377640586PLCE1c.4155A>C (p.Glu1385Asp)
c.*1622A>C (n.*1622A>C)
n.1814A>C
n.498A>C
c.*363A>C (n.*363A>C)
c.4107A>C (p.Glu1369Asp)
n.9287A>C
n.2752A>C
c.5036-4828A>C (n.5036-4828A>C)
c.5031A>C (p.Glu1677Asp)
c.5079A>C (p.Glu1693Asp)
c.4053A>C (p.Glu1351Asp)
c.3634A>C
c.3195A>C (p.Glu1065Asp)
c.*1012A>C (n.*1012A>C)
c.4348A>C
c.3924A>C (p.Glu1308Asp)
c.5121A>C (p.Glu1707Asp)
c.5118A>C (p.Glu1706Asp)
c.5073A>C (p.Glu1691Asp)
c.4197A>C (p.Glu1399Asp)
c.3966A>C (p.Glu1322Asp)
10g.94293551A>GCA470807468PLCE1c.4155A>G (p.Glu1385=)
c.*1622A>G (n.*1622A>G)
n.1814A>G
n.498A>G
c.*363A>G (n.*363A>G)
c.4107A>G (p.Glu1369=)
n.9287A>G
n.2752A>G
c.5036-4828A>G (n.5036-4828A>G)
c.5031A>G (p.Glu1677=)
c.5079A>G (p.Glu1693=)
c.4053A>G (p.Glu1351=)
c.3634A>G
c.3195A>G (p.Glu1065=)
c.*1012A>G (n.*1012A>G)
c.4348A>G
c.3924A>G (p.Glu1308=)
c.5121A>G (p.Glu1707=)
c.5118A>G (p.Glu1706=)
c.5073A>G (p.Glu1691=)
c.4197A>G (p.Glu1399=)
c.3966A>G (p.Glu1322=)
10g.94293551A>TCA377640588PLCE1c.4155A>T (p.Glu1385Asp)
c.*1622A>T (n.*1622A>T)
n.1814A>T
n.498A>T
c.*363A>T (n.*363A>T)
c.4107A>T (p.Glu1369Asp)
n.9287A>T
n.2752A>T
c.5036-4828A>T (n.5036-4828A>T)
c.5031A>T (p.Glu1677Asp)
c.5079A>T (p.Glu1693Asp)
c.4053A>T (p.Glu1351Asp)
c.3634A>T
c.3195A>T (p.Glu1065Asp)
c.*1012A>T (n.*1012A>T)
c.4348A>T
c.3924A>T (p.Glu1308Asp)
c.5121A>T (p.Glu1707Asp)
c.5118A>T (p.Glu1706Asp)
c.5073A>T (p.Glu1691Asp)
c.4197A>T (p.Glu1399Asp)
c.3966A>T (p.Glu1322Asp)
10g.94293552A>CCA470807472PLCE1c.4156A>C (p.Arg1386=)
c.*1623A>C (n.*1623A>C)
n.1815A>C
n.499A>C
c.*364A>C (n.*364A>C)
c.4108A>C (p.Arg1370=)
n.9288A>C
n.2753A>C
c.5036-4827A>C (n.5036-4827A>C)
c.5032A>C (p.Arg1678=)
c.5080A>C (p.Arg1694=)
c.4054A>C (p.Arg1352=)
c.3635A>C
c.3196A>C (p.Arg1066=)
c.*1013A>C (n.*1013A>C)
c.4349A>C
c.3925A>C (p.Arg1309=)
c.5122A>C (p.Arg1708=)
c.5119A>C (p.Arg1707=)
c.5074A>C (p.Arg1692=)
c.4198A>C (p.Arg1400=)
c.3967A>C (p.Arg1323=)
10g.94293552A>GCA377640590PLCE1c.4156A>G (p.Arg1386Gly)
c.*1623A>G (n.*1623A>G)
n.1815A>G
n.499A>G
c.*364A>G (n.*364A>G)
c.4108A>G (p.Arg1370Gly)
n.9288A>G
n.2753A>G
c.5036-4827A>G (n.5036-4827A>G)
c.5032A>G (p.Arg1678Gly)
c.5080A>G (p.Arg1694Gly)
c.4054A>G (p.Arg1352Gly)
c.3635A>G
c.3196A>G (p.Arg1066Gly)
c.*1013A>G (n.*1013A>G)
c.4349A>G
c.3925A>G (p.Arg1309Gly)
c.5122A>G (p.Arg1708Gly)
c.5119A>G (p.Arg1707Gly)
c.5074A>G (p.Arg1692Gly)
c.4198A>G (p.Arg1400Gly)
c.3967A>G (p.Arg1323Gly)
10g.94293552A>TCA377640591PLCE1c.4156A>T (p.Arg1386Trp)
c.*1623A>T (n.*1623A>T)
n.1815A>T
n.499A>T
c.*364A>T (n.*364A>T)
c.4108A>T (p.Arg1370Trp)
n.9288A>T
n.2753A>T
c.5036-4827A>T (n.5036-4827A>T)
c.5032A>T (p.Arg1678Trp)
c.5080A>T (p.Arg1694Trp)
c.4054A>T (p.Arg1352Trp)
c.3635A>T
c.3196A>T (p.Arg1066Trp)
c.*1013A>T (n.*1013A>T)
c.4349A>T
c.3925A>T (p.Arg1309Trp)
c.5122A>T (p.Arg1708Trp)
c.5119A>T (p.Arg1707Trp)
c.5074A>T (p.Arg1692Trp)
c.4198A>T (p.Arg1400Trp)
c.3967A>T (p.Arg1323Trp)
10g.94293553G>ACA377640594PLCE1c.4157G>A (p.Arg1386Lys)
c.*1624G>A (n.*1624G>A)
n.1816G>A
n.500G>A
c.*365G>A (n.*365G>A)
c.4109G>A (p.Arg1370Lys)
n.9289G>A
n.2754G>A
c.5036-4826G>A (n.5036-4826G>A)
c.5033G>A (p.Arg1678Lys)
c.5081G>A (p.Arg1694Lys)
c.4055G>A (p.Arg1352Lys)
c.3636G>A
c.3197G>A (p.Arg1066Lys)
c.*1014G>A (n.*1014G>A)
c.4350G>A
c.3926G>A (p.Arg1309Lys)
c.5123G>A (p.Arg1708Lys)
c.5120G>A (p.Arg1707Lys)
c.5075G>A (p.Arg1692Lys)
c.4199G>A (p.Arg1400Lys)
c.3968G>A (p.Arg1323Lys)
dbSNP
10g.94293553G>CCA377640595PLCE1c.4157G>C (p.Arg1386Thr)
c.*1624G>C (n.*1624G>C)
n.1816G>C
n.500G>C
c.*365G>C (n.*365G>C)
c.4109G>C (p.Arg1370Thr)
n.9289G>C
n.2754G>C
c.5036-4826G>C (n.5036-4826G>C)
c.5033G>C (p.Arg1678Thr)
c.5081G>C (p.Arg1694Thr)
c.4055G>C (p.Arg1352Thr)
c.3636G>C
c.3197G>C (p.Arg1066Thr)
c.*1014G>C (n.*1014G>C)
c.4350G>C
c.3926G>C (p.Arg1309Thr)
c.5123G>C (p.Arg1708Thr)
c.5120G>C (p.Arg1707Thr)
c.5075G>C (p.Arg1692Thr)
c.4199G>C (p.Arg1400Thr)
c.3968G>C (p.Arg1323Thr)
10g.94293553G>TCA377640597PLCE1c.4157G>T (p.Arg1386Met)
c.*1624G>T (n.*1624G>T)
n.1816G>T
n.500G>T
c.*365G>T (n.*365G>T)
c.4109G>T (p.Arg1370Met)
n.9289G>T
n.2754G>T
c.5036-4826G>T (n.5036-4826G>T)
c.5033G>T (p.Arg1678Met)
c.5081G>T (p.Arg1694Met)
c.4055G>T (p.Arg1352Met)
c.3636G>T
c.3197G>T (p.Arg1066Met)
c.*1014G>T (n.*1014G>T)
c.4350G>T
c.3926G>T (p.Arg1309Met)
c.5123G>T (p.Arg1708Met)
c.5120G>T (p.Arg1707Met)
c.5075G>T (p.Arg1692Met)
c.4199G>T (p.Arg1400Met)
c.3968G>T (p.Arg1323Met)
10g.94293554G>ACA470807476PLCE1c.4158G>A (p.Arg1386=)
c.*1625G>A (n.*1625G>A)
n.1817G>A
n.501G>A
c.*366G>A (n.*366G>A)
c.4110G>A (p.Arg1370=)
n.9290G>A
n.2755G>A
c.5036-4825G>A (n.5036-4825G>A)
c.5034G>A (p.Arg1678=)
c.5082G>A (p.Arg1694=)
c.4056G>A (p.Arg1352=)
c.3637G>A
c.3198G>A (p.Arg1066=)
c.*1015G>A (n.*1015G>A)
c.4351G>A
c.3927G>A (p.Arg1309=)
c.5124G>A (p.Arg1708=)
c.5121G>A (p.Arg1707=)
c.5076G>A (p.Arg1692=)
c.4200G>A (p.Arg1400=)
c.3969G>A (p.Arg1323=)
dbSNP gnomAD v3 gnomAD v4
10g.94293554G>CCA377640599PLCE1c.4158G>C (p.Arg1386Ser)
c.*1625G>C (n.*1625G>C)
n.1817G>C
n.501G>C
c.*366G>C (n.*366G>C)
c.4110G>C (p.Arg1370Ser)
n.9290G>C
n.2755G>C
c.5036-4825G>C (n.5036-4825G>C)
c.5034G>C (p.Arg1678Ser)
c.5082G>C (p.Arg1694Ser)
c.4056G>C (p.Arg1352Ser)
c.3637G>C
c.3198G>C (p.Arg1066Ser)
c.*1015G>C (n.*1015G>C)
c.4351G>C
c.3927G>C (p.Arg1309Ser)
c.5124G>C (p.Arg1708Ser)
c.5121G>C (p.Arg1707Ser)
c.5076G>C (p.Arg1692Ser)
c.4200G>C (p.Arg1400Ser)
c.3969G>C (p.Arg1323Ser)
10g.94293554G=CA1928996188PLCE1c.4158G= (p.Arg1386=)
c.*1625G= (n.*1625G=)
n.1817G=
n.501G=
c.*366G= (n.*366G=)
c.4110G= (p.Arg1370=)
n.9290G=
n.2755G=
c.5036-4825G= (n.5036-4825G=)
c.5034G= (p.Arg1678=)
c.5082G= (p.Arg1694=)
c.4056G= (p.Arg1352=)
c.3637G=
c.3198G= (p.Arg1066=)
c.*1015G= (n.*1015G=)
c.4351G=
c.3927G= (p.Arg1309=)
c.5124G= (p.Arg1708=)
c.5121G= (p.Arg1707=)
c.5076G= (p.Arg1692=)
c.4200G= (p.Arg1400=)
c.3969G= (p.Arg1323=)
10g.94293554G>TCA377640602PLCE1c.4158G>T (p.Arg1386Ser)
c.*1625G>T (n.*1625G>T)
n.1817G>T
n.501G>T
c.*366G>T (n.*366G>T)
c.4110G>T (p.Arg1370Ser)
n.9290G>T
n.2755G>T
c.5036-4825G>T (n.5036-4825G>T)
c.5034G>T (p.Arg1678Ser)
c.5082G>T (p.Arg1694Ser)
c.4056G>T (p.Arg1352Ser)
c.3637G>T
c.3198G>T (p.Arg1066Ser)
c.*1015G>T (n.*1015G>T)
c.4351G>T
c.3927G>T (p.Arg1309Ser)
c.5124G>T (p.Arg1708Ser)
c.5121G>T (p.Arg1707Ser)
c.5076G>T (p.Arg1692Ser)
c.4200G>T (p.Arg1400Ser)
c.3969G>T (p.Arg1323Ser)
10g.94293555A>CCA377640605PLCE1c.4159A>C (p.Lys1387Gln)
c.*1626A>C (n.*1626A>C)
n.1818A>C
n.502A>C
c.*367A>C (n.*367A>C)
c.4111A>C (p.Lys1371Gln)
n.9291A>C
n.2756A>C
c.5036-4824A>C (n.5036-4824A>C)
c.5035A>C (p.Lys1679Gln)
c.5083A>C (p.Lys1695Gln)
c.4057A>C (p.Lys1353Gln)
c.3638A>C
c.3199A>C (p.Lys1067Gln)
c.*1016A>C (n.*1016A>C)
c.4352A>C
c.3928A>C (p.Lys1310Gln)
c.5125A>C (p.Lys1709Gln)
c.5122A>C (p.Lys1708Gln)
c.5077A>C (p.Lys1693Gln)
c.4201A>C (p.Lys1401Gln)
c.3970A>C (p.Lys1324Gln)
10g.94293555A>GCA377640608PLCE1c.4159A>G (p.Lys1387Glu)
c.*1626A>G (n.*1626A>G)
n.1818A>G
n.502A>G
c.*367A>G (n.*367A>G)
c.4111A>G (p.Lys1371Glu)
n.9291A>G
n.2756A>G
c.5036-4824A>G (n.5036-4824A>G)
c.5035A>G (p.Lys1679Glu)
c.5083A>G (p.Lys1695Glu)
c.4057A>G (p.Lys1353Glu)
c.3638A>G
c.3199A>G (p.Lys1067Glu)
c.*1016A>G (n.*1016A>G)
c.4352A>G
c.3928A>G (p.Lys1310Glu)
c.5125A>G (p.Lys1709Glu)
c.5122A>G (p.Lys1708Glu)
c.5077A>G (p.Lys1693Glu)
c.4201A>G (p.Lys1401Glu)
c.3970A>G (p.Lys1324Glu)
10g.94293555A>TCA377640606PLCE1c.4159A>T (p.Lys1387Ter)
c.*1626A>T (n.*1626A>T)
n.1818A>T
n.502A>T
c.*367A>T (n.*367A>T)
c.4111A>T (p.Lys1371Ter)
n.9291A>T
n.2756A>T
c.5036-4824A>T (n.5036-4824A>T)
c.5035A>T (p.Lys1679Ter)
c.5083A>T (p.Lys1695Ter)
c.4057A>T (p.Lys1353Ter)
c.3638A>T
c.3199A>T (p.Lys1067Ter)
c.*1016A>T (n.*1016A>T)
c.4352A>T
c.3928A>T (p.Lys1310Ter)
c.5125A>T (p.Lys1709Ter)
c.5122A>T (p.Lys1708Ter)
c.5077A>T (p.Lys1693Ter)
c.4201A>T (p.Lys1401Ter)
c.3970A>T (p.Lys1324Ter)
10g.94293556A>CCA377640610PLCE1c.4160A>C (p.Lys1387Thr)
c.*1627A>C (n.*1627A>C)
n.1819A>C
n.503A>C
c.*368A>C (n.*368A>C)
c.4112A>C (p.Lys1371Thr)
n.9292A>C
n.2757A>C
c.5036-4823A>C (n.5036-4823A>C)
c.5036A>C (p.Lys1679Thr)
c.5084A>C (p.Lys1695Thr)
c.4058A>C (p.Lys1353Thr)
c.3639A>C
c.3200A>C (p.Lys1067Thr)
c.*1017A>C (n.*1017A>C)
c.4353A>C
c.3929A>C (p.Lys1310Thr)
c.5126A>C (p.Lys1709Thr)
c.5123A>C (p.Lys1708Thr)
c.5078A>C (p.Lys1693Thr)
c.4202A>C (p.Lys1401Thr)
c.3971A>C (p.Lys1324Thr)
10g.94293556A>GCA377640612PLCE1c.4160A>G (p.Lys1387Arg)
c.*1627A>G (n.*1627A>G)
n.1819A>G
n.503A>G
c.*368A>G (n.*368A>G)
c.4112A>G (p.Lys1371Arg)
n.9292A>G
n.2757A>G
c.5036-4823A>G (n.5036-4823A>G)
c.5036A>G (p.Lys1679Arg)
c.5084A>G (p.Lys1695Arg)
c.4058A>G (p.Lys1353Arg)
c.3639A>G
c.3200A>G (p.Lys1067Arg)
c.*1017A>G (n.*1017A>G)
c.4353A>G
c.3929A>G (p.Lys1310Arg)
c.5126A>G (p.Lys1709Arg)
c.5123A>G (p.Lys1708Arg)
c.5078A>G (p.Lys1693Arg)
c.4202A>G (p.Lys1401Arg)
c.3971A>G (p.Lys1324Arg)
10g.94293556A>TCA377640613PLCE1c.4160A>T (p.Lys1387Ile)
c.*1627A>T (n.*1627A>T)
n.1819A>T
n.503A>T
c.*368A>T (n.*368A>T)
c.4112A>T (p.Lys1371Ile)
n.9292A>T
n.2757A>T
c.5036-4823A>T (n.5036-4823A>T)
c.5036A>T (p.Lys1679Ile)
c.5084A>T (p.Lys1695Ile)
c.4058A>T (p.Lys1353Ile)
c.3639A>T
c.3200A>T (p.Lys1067Ile)
c.*1017A>T (n.*1017A>T)
c.4353A>T
c.3929A>T (p.Lys1310Ile)
c.5126A>T (p.Lys1709Ile)
c.5123A>T (p.Lys1708Ile)
c.5078A>T (p.Lys1693Ile)
c.4202A>T (p.Lys1401Ile)
c.3971A>T (p.Lys1324Ile)
10g.94293557A>CCA377640616PLCE1c.4161A>C (p.Lys1387Asn)
c.*1628A>C (n.*1628A>C)
n.1820A>C
n.504A>C
c.*369A>C (n.*369A>C)
c.4113A>C (p.Lys1371Asn)
n.9293A>C
n.2758A>C
c.5036-4822A>C (n.5036-4822A>C)
c.5037A>C (p.Lys1679Asn)
c.5085A>C (p.Lys1695Asn)
c.4059A>C (p.Lys1353Asn)
c.3640A>C
c.3201A>C (p.Lys1067Asn)
c.*1018A>C (n.*1018A>C)
c.4354A>C
c.3930A>C (p.Lys1310Asn)
c.5127A>C (p.Lys1709Asn)
c.5124A>C (p.Lys1708Asn)
c.5079A>C (p.Lys1693Asn)
c.4203A>C (p.Lys1401Asn)
c.3972A>C (p.Lys1324Asn)
10g.94293557A>GCA470807485PLCE1c.4161A>G (p.Lys1387=)
c.*1628A>G (n.*1628A>G)
n.1820A>G
n.504A>G
c.*369A>G (n.*369A>G)
c.4113A>G (p.Lys1371=)
n.9293A>G
n.2758A>G
c.5036-4822A>G (n.5036-4822A>G)
c.5037A>G (p.Lys1679=)
c.5085A>G (p.Lys1695=)
c.4059A>G (p.Lys1353=)
c.3640A>G
c.3201A>G (p.Lys1067=)
c.*1018A>G (n.*1018A>G)
c.4354A>G
c.3930A>G (p.Lys1310=)
c.5127A>G (p.Lys1709=)
c.5124A>G (p.Lys1708=)
c.5079A>G (p.Lys1693=)
c.4203A>G (p.Lys1401=)
c.3972A>G (p.Lys1324=)
10g.94293557A>TCA377640617PLCE1c.4161A>T (p.Lys1387Asn)
c.*1628A>T (n.*1628A>T)
n.1820A>T
n.504A>T
c.*369A>T (n.*369A>T)
c.4113A>T (p.Lys1371Asn)
n.9293A>T
n.2758A>T
c.5036-4822A>T (n.5036-4822A>T)
c.5037A>T (p.Lys1679Asn)
c.5085A>T (p.Lys1695Asn)
c.4059A>T (p.Lys1353Asn)
c.3640A>T
c.3201A>T (p.Lys1067Asn)
c.*1018A>T (n.*1018A>T)
c.4354A>T
c.3930A>T (p.Lys1310Asn)
c.5127A>T (p.Lys1709Asn)
c.5124A>T (p.Lys1708Asn)
c.5079A>T (p.Lys1693Asn)
c.4203A>T (p.Lys1401Asn)
c.3972A>T (p.Lys1324Asn)
10g.94293558A>CCA377640619PLCE1c.4162A>C (p.Ser1388Arg)
c.*1629A>C (n.*1629A>C)
n.1821A>C
n.505A>C
c.*370A>C (n.*370A>C)
c.4114A>C (p.Ser1372Arg)
n.9294A>C
n.2759A>C
c.5036-4821A>C (n.5036-4821A>C)
c.5038A>C (p.Ser1680Arg)
c.5086A>C (p.Ser1696Arg)
c.4060A>C (p.Ser1354Arg)
c.3641A>C
c.3202A>C (p.Ser1068Arg)
c.*1019A>C (n.*1019A>C)
c.4355A>C
c.3931A>C (p.Ser1311Arg)
c.5128A>C (p.Ser1710Arg)
c.5125A>C (p.Ser1709Arg)
c.5080A>C (p.Ser1694Arg)
c.4204A>C (p.Ser1402Arg)
c.3973A>C (p.Ser1325Arg)
10g.94293558A>GCA377640620PLCE1c.4162A>G (p.Ser1388Gly)
c.*1629A>G (n.*1629A>G)
n.1821A>G
n.505A>G
c.*370A>G (n.*370A>G)
c.4114A>G (p.Ser1372Gly)
n.9294A>G
n.2759A>G
c.5036-4821A>G (n.5036-4821A>G)
c.5038A>G (p.Ser1680Gly)
c.5086A>G (p.Ser1696Gly)
c.4060A>G (p.Ser1354Gly)
c.3641A>G
c.3202A>G (p.Ser1068Gly)
c.*1019A>G (n.*1019A>G)
c.4355A>G
c.3931A>G (p.Ser1311Gly)
c.5128A>G (p.Ser1710Gly)
c.5125A>G (p.Ser1709Gly)
c.5080A>G (p.Ser1694Gly)
c.4204A>G (p.Ser1402Gly)
c.3973A>G (p.Ser1325Gly)
10g.94293558A>TCA377640621PLCE1c.4162A>T (p.Ser1388Cys)
c.*1629A>T (n.*1629A>T)
n.1821A>T
n.505A>T
c.*370A>T (n.*370A>T)
c.4114A>T (p.Ser1372Cys)
n.9294A>T
n.2759A>T
c.5036-4821A>T (n.5036-4821A>T)
c.5038A>T (p.Ser1680Cys)
c.5086A>T (p.Ser1696Cys)
c.4060A>T (p.Ser1354Cys)
c.3641A>T
c.3202A>T (p.Ser1068Cys)
c.*1019A>T (n.*1019A>T)
c.4355A>T
c.3931A>T (p.Ser1311Cys)
c.5128A>T (p.Ser1710Cys)
c.5125A>T (p.Ser1709Cys)
c.5080A>T (p.Ser1694Cys)
c.4204A>T (p.Ser1402Cys)
c.3973A>T (p.Ser1325Cys)
10g.94293559G>ACA377640624PLCE1c.4163G>A (p.Ser1388Asn)
c.*1630G>A (n.*1630G>A)
n.1822G>A
n.506G>A
c.*371G>A (n.*371G>A)
c.4115G>A (p.Ser1372Asn)
n.9295G>A
n.2760G>A
c.5036-4820G>A (n.5036-4820G>A)
c.5039G>A (p.Ser1680Asn)
c.5087G>A (p.Ser1696Asn)
c.4061G>A (p.Ser1354Asn)
c.3642G>A
c.3203G>A (p.Ser1068Asn)
c.*1020G>A (n.*1020G>A)
c.4356G>A
c.3932G>A (p.Ser1311Asn)
c.5129G>A (p.Ser1710Asn)
c.5126G>A (p.Ser1709Asn)
c.5081G>A (p.Ser1694Asn)
c.4205G>A (p.Ser1402Asn)
c.3974G>A (p.Ser1325Asn)
10g.94293559G>CCA377640626PLCE1c.4163G>C (p.Ser1388Thr)
c.*1630G>C (n.*1630G>C)
n.1822G>C
n.506G>C
c.*371G>C (n.*371G>C)
c.4115G>C (p.Ser1372Thr)
n.9295G>C
n.2760G>C
c.5036-4820G>C (n.5036-4820G>C)
c.5039G>C (p.Ser1680Thr)
c.5087G>C (p.Ser1696Thr)
c.4061G>C (p.Ser1354Thr)
c.3642G>C
c.3203G>C (p.Ser1068Thr)
c.*1020G>C (n.*1020G>C)
c.4356G>C
c.3932G>C (p.Ser1311Thr)
c.5129G>C (p.Ser1710Thr)
c.5126G>C (p.Ser1709Thr)
c.5081G>C (p.Ser1694Thr)
c.4205G>C (p.Ser1402Thr)
c.3974G>C (p.Ser1325Thr)
10g.94293559G>TCA377640627PLCE1c.4163G>T (p.Ser1388Ile)
c.*1630G>T (n.*1630G>T)
n.1822G>T
n.506G>T
c.*371G>T (n.*371G>T)
c.4115G>T (p.Ser1372Ile)
n.9295G>T
n.2760G>T
c.5036-4820G>T (n.5036-4820G>T)
c.5039G>T (p.Ser1680Ile)
c.5087G>T (p.Ser1696Ile)
c.4061G>T (p.Ser1354Ile)
c.3642G>T
c.3203G>T (p.Ser1068Ile)
c.*1020G>T (n.*1020G>T)
c.4356G>T
c.3932G>T (p.Ser1311Ile)
c.5129G>T (p.Ser1710Ile)
c.5126G>T (p.Ser1709Ile)
c.5081G>T (p.Ser1694Ile)
c.4205G>T (p.Ser1402Ile)
c.3974G>T (p.Ser1325Ile)
10g.94293560C>ACA377640630PLCE1c.4164C>A (p.Ser1388Arg)
c.*1631C>A (n.*1631C>A)
n.1823C>A
n.507C>A
c.*372C>A (n.*372C>A)
c.4116C>A (p.Ser1372Arg)
n.9296C>A
n.2761C>A
c.5036-4819C>A (n.5036-4819C>A)
c.5040C>A (p.Ser1680Arg)
c.5088C>A (p.Ser1696Arg)
c.4062C>A (p.Ser1354Arg)
c.3643C>A
c.3204C>A (p.Ser1068Arg)
c.*1021C>A (n.*1021C>A)
c.4357C>A
c.3933C>A (p.Ser1311Arg)
c.5130C>A (p.Ser1710Arg)
c.5127C>A (p.Ser1709Arg)
c.5082C>A (p.Ser1694Arg)
c.4206C>A (p.Ser1402Arg)
c.3975C>A (p.Ser1325Arg)
10g.94293560C>GCA377640631PLCE1c.4164C>G (p.Ser1388Arg)
c.*1631C>G (n.*1631C>G)
n.1823C>G
n.507C>G
c.*372C>G (n.*372C>G)
c.4116C>G (p.Ser1372Arg)
n.9296C>G
n.2761C>G
c.5036-4819C>G (n.5036-4819C>G)
c.5040C>G (p.Ser1680Arg)
c.5088C>G (p.Ser1696Arg)
c.4062C>G (p.Ser1354Arg)
c.3643C>G
c.3204C>G (p.Ser1068Arg)
c.*1021C>G (n.*1021C>G)
c.4357C>G
c.3933C>G (p.Ser1311Arg)
c.5130C>G (p.Ser1710Arg)
c.5127C>G (p.Ser1709Arg)
c.5082C>G (p.Ser1694Arg)
c.4206C>G (p.Ser1402Arg)
c.3975C>G (p.Ser1325Arg)
10g.94293560C>TCA470807493PLCE1c.4164C>T (p.Ser1388=)
c.*1631C>T (n.*1631C>T)
n.1823C>T
n.507C>T
c.*372C>T (n.*372C>T)
c.4116C>T (p.Ser1372=)
n.9296C>T
n.2761C>T
c.5036-4819C>T (n.5036-4819C>T)
c.5040C>T (p.Ser1680=)
c.5088C>T (p.Ser1696=)
c.4062C>T (p.Ser1354=)
c.3643C>T
c.3204C>T (p.Ser1068=)
c.*1021C>T (n.*1021C>T)
c.4357C>T
c.3933C>T (p.Ser1311=)
c.5130C>T (p.Ser1710=)
c.5127C>T (p.Ser1709=)
c.5082C>T (p.Ser1694=)
c.4206C>T (p.Ser1402=)
c.3975C>T (p.Ser1325=)
10g.94293561A>CCA470807495PLCE1c.4165A>C (p.Arg1389=)
c.*1632A>C (n.*1632A>C)
n.1824A>C
n.508A>C
c.*373A>C (n.*373A>C)
c.4117A>C (p.Arg1373=)
n.9297A>C
n.2762A>C
c.5036-4818A>C (n.5036-4818A>C)
c.5041A>C (p.Arg1681=)
c.5089A>C (p.Arg1697=)
c.4063A>C (p.Arg1355=)
c.3644A>C
c.3205A>C (p.Arg1069=)
c.*1022A>C (n.*1022A>C)
c.4358A>C
c.3934A>C (p.Arg1312=)
c.5131A>C (p.Arg1711=)
c.5128A>C (p.Arg1710=)
c.5083A>C (p.Arg1695=)
c.4207A>C (p.Arg1403=)
c.3976A>C (p.Arg1326=)
10g.94293561A>GCA377640633PLCE1c.4165A>G (p.Arg1389Gly)
c.*1632A>G (n.*1632A>G)
n.1824A>G
n.508A>G
c.*373A>G (n.*373A>G)
c.4117A>G (p.Arg1373Gly)
n.9297A>G
n.2762A>G
c.5036-4818A>G (n.5036-4818A>G)
c.5041A>G (p.Arg1681Gly)
c.5089A>G (p.Arg1697Gly)
c.4063A>G (p.Arg1355Gly)
c.3644A>G
c.3205A>G (p.Arg1069Gly)
c.*1022A>G (n.*1022A>G)
c.4358A>G
c.3934A>G (p.Arg1312Gly)
c.5131A>G (p.Arg1711Gly)
c.5128A>G (p.Arg1710Gly)
c.5083A>G (p.Arg1695Gly)
c.4207A>G (p.Arg1403Gly)
c.3976A>G (p.Arg1326Gly)
10g.94293561A>TCA377640635PLCE1c.4165A>T (p.Arg1389Trp)
c.*1632A>T (n.*1632A>T)
n.1824A>T
n.508A>T
c.*373A>T (n.*373A>T)
c.4117A>T (p.Arg1373Trp)
n.9297A>T
n.2762A>T
c.5036-4818A>T (n.5036-4818A>T)
c.5041A>T (p.Arg1681Trp)
c.5089A>T (p.Arg1697Trp)
c.4063A>T (p.Arg1355Trp)
c.3644A>T
c.3205A>T (p.Arg1069Trp)
c.*1022A>T (n.*1022A>T)
c.4358A>T
c.3934A>T (p.Arg1312Trp)
c.5131A>T (p.Arg1711Trp)
c.5128A>T (p.Arg1710Trp)
c.5083A>T (p.Arg1695Trp)
c.4207A>T (p.Arg1403Trp)
c.3976A>T (p.Arg1326Trp)
10g.94293562G>ACA211596311PLCE1c.4166G>A (p.Arg1389Lys)
c.*1633G>A (n.*1633G>A)
n.1825G>A
n.509G>A
c.*374G>A (n.*374G>A)
c.4118G>A (p.Arg1373Lys)
n.9298G>A
n.2763G>A
c.5036-4817G>A (n.5036-4817G>A)
c.5042G>A (p.Arg1681Lys)
c.5090G>A (p.Arg1697Lys)
c.4064G>A (p.Arg1355Lys)
c.3645G>A
c.3206G>A (p.Arg1069Lys)
c.*1023G>A (n.*1023G>A)
c.4359G>A
c.3935G>A (p.Arg1312Lys)
c.5132G>A (p.Arg1711Lys)
c.5129G>A (p.Arg1710Lys)
c.5084G>A (p.Arg1695Lys)
c.4208G>A (p.Arg1403Lys)
c.3977G>A (p.Arg1326Lys)
dbSNP gnomAD v4
10g.94293562G>CCA377640638PLCE1c.4166G>C (p.Arg1389Thr)
c.*1633G>C (n.*1633G>C)
n.1825G>C
n.509G>C
c.*374G>C (n.*374G>C)
c.4118G>C (p.Arg1373Thr)
n.9298G>C
n.2763G>C
c.5036-4817G>C (n.5036-4817G>C)
c.5042G>C (p.Arg1681Thr)
c.5090G>C (p.Arg1697Thr)
c.4064G>C (p.Arg1355Thr)
c.3645G>C
c.3206G>C (p.Arg1069Thr)
c.*1023G>C (n.*1023G>C)
c.4359G>C
c.3935G>C (p.Arg1312Thr)
c.5132G>C (p.Arg1711Thr)
c.5129G>C (p.Arg1710Thr)
c.5084G>C (p.Arg1695Thr)
c.4208G>C (p.Arg1403Thr)
c.3977G>C (p.Arg1326Thr)
10g.94293562G=CA1928996189PLCE1c.4166G= (p.Arg1389=)
c.*1633G= (n.*1633G=)
n.1825G=
n.509G=
c.*374G= (n.*374G=)
c.4118G= (p.Arg1373=)
n.9298G=
n.2763G=
c.5036-4817G= (n.5036-4817G=)
c.5042G= (p.Arg1681=)
c.5090G= (p.Arg1697=)
c.4064G= (p.Arg1355=)
c.3645G=
c.3206G= (p.Arg1069=)
c.*1023G= (n.*1023G=)
c.4359G=
c.3935G= (p.Arg1312=)
c.5132G= (p.Arg1711=)
c.5129G= (p.Arg1710=)
c.5084G= (p.Arg1695=)
c.4208G= (p.Arg1403=)
c.3977G= (p.Arg1326=)
10g.94293562G>TCA377640640PLCE1c.4166G>T (p.Arg1389Met)
c.*1633G>T (n.*1633G>T)
n.1825G>T
n.509G>T
c.*374G>T (n.*374G>T)
c.4118G>T (p.Arg1373Met)
n.9298G>T
n.2763G>T
c.5036-4817G>T (n.5036-4817G>T)
c.5042G>T (p.Arg1681Met)
c.5090G>T (p.Arg1697Met)
c.4064G>T (p.Arg1355Met)
c.3645G>T
c.3206G>T (p.Arg1069Met)
c.*1023G>T (n.*1023G>T)
c.4359G>T
c.3935G>T (p.Arg1312Met)
c.5132G>T (p.Arg1711Met)
c.5129G>T (p.Arg1710Met)
c.5084G>T (p.Arg1695Met)
c.4208G>T (p.Arg1403Met)
c.3977G>T (p.Arg1326Met)
10g.94293563G>ACA470807501PLCE1c.4167G>A (p.Arg1389=)
c.*1634G>A (n.*1634G>A)
n.1826G>A
n.510G>A
c.*375G>A (n.*375G>A)
c.4119G>A (p.Arg1373=)
n.9299G>A
n.2764G>A
c.5036-4816G>A (n.5036-4816G>A)
c.5043G>A (p.Arg1681=)
c.5091G>A (p.Arg1697=)
c.4065G>A (p.Arg1355=)
c.3646G>A
c.3207G>A (p.Arg1069=)
c.*1024G>A (n.*1024G>A)
c.4360G>A
c.3936G>A (p.Arg1312=)
c.5133G>A (p.Arg1711=)
c.5130G>A (p.Arg1710=)
c.5085G>A (p.Arg1695=)
c.4209G>A (p.Arg1403=)
c.3978G>A (p.Arg1326=)
10g.94293563G>CCA377640642PLCE1c.4167G>C (p.Arg1389Ser)
c.*1634G>C (n.*1634G>C)
n.1826G>C
n.510G>C
c.*375G>C (n.*375G>C)
c.4119G>C (p.Arg1373Ser)
n.9299G>C
n.2764G>C
c.5036-4816G>C (n.5036-4816G>C)
c.5043G>C (p.Arg1681Ser)
c.5091G>C (p.Arg1697Ser)
c.4065G>C (p.Arg1355Ser)
c.3646G>C
c.3207G>C (p.Arg1069Ser)
c.*1024G>C (n.*1024G>C)
c.4360G>C
c.3936G>C (p.Arg1312Ser)
c.5133G>C (p.Arg1711Ser)
c.5130G>C (p.Arg1710Ser)
c.5085G>C (p.Arg1695Ser)
c.4209G>C (p.Arg1403Ser)
c.3978G>C (p.Arg1326Ser)
10g.94293563G>TCA377640643PLCE1c.4167G>T (p.Arg1389Ser)
c.*1634G>T (n.*1634G>T)
n.1826G>T
n.510G>T
c.*375G>T (n.*375G>T)
c.4119G>T (p.Arg1373Ser)
n.9299G>T
n.2764G>T
c.5036-4816G>T (n.5036-4816G>T)
c.5043G>T (p.Arg1681Ser)
c.5091G>T (p.Arg1697Ser)
c.4065G>T (p.Arg1355Ser)
c.3646G>T
c.3207G>T (p.Arg1069Ser)
c.*1024G>T (n.*1024G>T)
c.4360G>T
c.3936G>T (p.Arg1312Ser)
c.5133G>T (p.Arg1711Ser)
c.5130G>T (p.Arg1710Ser)
c.5085G>T (p.Arg1695Ser)
c.4209G>T (p.Arg1403Ser)
c.3978G>T (p.Arg1326Ser)
gnomAD v4
10g.94293564A>CCA377640646PLCE1c.4168A>C (p.Lys1390Gln)
c.*1635A>C (n.*1635A>C)
n.1827A>C
n.511A>C
c.*376A>C (n.*376A>C)
c.4120A>C (p.Lys1374Gln)
n.9300A>C
n.2765A>C
c.5036-4815A>C (n.5036-4815A>C)
c.5044A>C (p.Lys1682Gln)
c.5092A>C (p.Lys1698Gln)
c.4066A>C (p.Lys1356Gln)
c.3647A>C
c.3208A>C (p.Lys1070Gln)
c.*1025A>C (n.*1025A>C)
c.4361A>C
c.3937A>C (p.Lys1313Gln)
c.5134A>C (p.Lys1712Gln)
c.5131A>C (p.Lys1711Gln)
c.5086A>C (p.Lys1696Gln)
c.4210A>C (p.Lys1404Gln)
c.3979A>C (p.Lys1327Gln)
10g.94293564A>GCA377640648PLCE1c.4168A>G (p.Lys1390Glu)
c.*1635A>G (n.*1635A>G)
n.1827A>G
n.511A>G
c.*376A>G (n.*376A>G)
c.4120A>G (p.Lys1374Glu)
n.9300A>G
n.2765A>G
c.5036-4815A>G (n.5036-4815A>G)
c.5044A>G (p.Lys1682Glu)
c.5092A>G (p.Lys1698Glu)
c.4066A>G (p.Lys1356Glu)
c.3647A>G
c.3208A>G (p.Lys1070Glu)
c.*1025A>G (n.*1025A>G)
c.4361A>G
c.3937A>G (p.Lys1313Glu)
c.5134A>G (p.Lys1712Glu)
c.5131A>G (p.Lys1711Glu)
c.5086A>G (p.Lys1696Glu)
c.4210A>G (p.Lys1404Glu)
c.3979A>G (p.Lys1327Glu)
gnomAD v4
10g.94293564A>TCA377640650PLCE1c.4168A>T (p.Lys1390Ter)
c.*1635A>T (n.*1635A>T)
n.1827A>T
n.511A>T
c.*376A>T (n.*376A>T)
c.4120A>T (p.Lys1374Ter)
n.9300A>T
n.2765A>T
c.5036-4815A>T (n.5036-4815A>T)
c.5044A>T (p.Lys1682Ter)
c.5092A>T (p.Lys1698Ter)
c.4066A>T (p.Lys1356Ter)
c.3647A>T
c.3208A>T (p.Lys1070Ter)
c.*1025A>T (n.*1025A>T)
c.4361A>T
c.3937A>T (p.Lys1313Ter)
c.5134A>T (p.Lys1712Ter)
c.5131A>T (p.Lys1711Ter)
c.5086A>T (p.Lys1696Ter)
c.4210A>T (p.Lys1404Ter)
c.3979A>T (p.Lys1327Ter)
10g.94293565A>CCA377640653PLCE1c.4169A>C (p.Lys1390Thr)
c.*1636A>C (n.*1636A>C)
n.1828A>C
n.512A>C
c.*377A>C (n.*377A>C)
c.4121A>C (p.Lys1374Thr)
n.9301A>C
n.2766A>C
c.5036-4814A>C (n.5036-4814A>C)
c.5045A>C (p.Lys1682Thr)
c.5093A>C (p.Lys1698Thr)
c.4067A>C (p.Lys1356Thr)
c.3648A>C
c.3209A>C (p.Lys1070Thr)
c.*1026A>C (n.*1026A>C)
c.4362A>C
c.3938A>C (p.Lys1313Thr)
c.5135A>C (p.Lys1712Thr)
c.5132A>C (p.Lys1711Thr)
c.5087A>C (p.Lys1696Thr)
c.4211A>C (p.Lys1404Thr)
c.3980A>C (p.Lys1327Thr)
10g.94293565A>GCA377640654PLCE1c.4169A>G (p.Lys1390Arg)
c.*1636A>G (n.*1636A>G)
n.1828A>G
n.512A>G
c.*377A>G (n.*377A>G)
c.4121A>G (p.Lys1374Arg)
n.9301A>G
n.2766A>G
c.5036-4814A>G (n.5036-4814A>G)
c.5045A>G (p.Lys1682Arg)
c.5093A>G (p.Lys1698Arg)
c.4067A>G (p.Lys1356Arg)
c.3648A>G
c.3209A>G (p.Lys1070Arg)
c.*1026A>G (n.*1026A>G)
c.4362A>G
c.3938A>G (p.Lys1313Arg)
c.5135A>G (p.Lys1712Arg)
c.5132A>G (p.Lys1711Arg)
c.5087A>G (p.Lys1696Arg)
c.4211A>G (p.Lys1404Arg)
c.3980A>G (p.Lys1327Arg)
10g.94293565A>TCA377640656PLCE1c.4169A>T (p.Lys1390Met)
c.*1636A>T (n.*1636A>T)
n.1828A>T
n.512A>T
c.*377A>T (n.*377A>T)
c.4121A>T (p.Lys1374Met)
n.9301A>T
n.2766A>T
c.5036-4814A>T (n.5036-4814A>T)
c.5045A>T (p.Lys1682Met)
c.5093A>T (p.Lys1698Met)
c.4067A>T (p.Lys1356Met)
c.3648A>T
c.3209A>T (p.Lys1070Met)
c.*1026A>T (n.*1026A>T)
c.4362A>T
c.3938A>T (p.Lys1313Met)
c.5135A>T (p.Lys1712Met)
c.5132A>T (p.Lys1711Met)
c.5087A>T (p.Lys1696Met)
c.4211A>T (p.Lys1404Met)
c.3980A>T (p.Lys1327Met)
10g.94293566G>ACA470807508PLCE1c.4170G>A (p.Lys1390=)
c.*1637G>A (n.*1637G>A)
n.1829G>A
n.513G>A
c.*378G>A (n.*378G>A)
c.4122G>A (p.Lys1374=)
n.9302G>A
n.2767G>A
c.5036-4813G>A (n.5036-4813G>A)
c.5046G>A (p.Lys1682=)
c.5094G>A (p.Lys1698=)
c.4068G>A (p.Lys1356=)
c.3649G>A
c.3210G>A (p.Lys1070=)
c.*1027G>A (n.*1027G>A)
c.4363G>A
c.3939G>A (p.Lys1313=)
c.5136G>A (p.Lys1712=)
c.5133G>A (p.Lys1711=)
c.5088G>A (p.Lys1696=)
c.4212G>A (p.Lys1404=)
c.3981G>A (p.Lys1327=)
10g.94293566G>CCA377640658PLCE1c.4170G>C (p.Lys1390Asn)
c.*1637G>C (n.*1637G>C)
n.1829G>C
n.513G>C
c.*378G>C (n.*378G>C)
c.4122G>C (p.Lys1374Asn)
n.9302G>C
n.2767G>C
c.5036-4813G>C (n.5036-4813G>C)
c.5046G>C (p.Lys1682Asn)
c.5094G>C (p.Lys1698Asn)
c.4068G>C (p.Lys1356Asn)
c.3649G>C
c.3210G>C (p.Lys1070Asn)
c.*1027G>C (n.*1027G>C)
c.4363G>C
c.3939G>C (p.Lys1313Asn)
c.5136G>C (p.Lys1712Asn)
c.5133G>C (p.Lys1711Asn)
c.5088G>C (p.Lys1696Asn)
c.4212G>C (p.Lys1404Asn)
c.3981G>C (p.Lys1327Asn)
10g.94293566G>TCA377640660PLCE1c.4170G>T (p.Lys1390Asn)
c.*1637G>T (n.*1637G>T)
n.1829G>T
n.513G>T
c.*378G>T (n.*378G>T)
c.4122G>T (p.Lys1374Asn)
n.9302G>T
n.2767G>T
c.5036-4813G>T (n.5036-4813G>T)
c.5046G>T (p.Lys1682Asn)
c.5094G>T (p.Lys1698Asn)
c.4068G>T (p.Lys1356Asn)
c.3649G>T
c.3210G>T (p.Lys1070Asn)
c.*1027G>T (n.*1027G>T)
c.4363G>T
c.3939G>T (p.Lys1313Asn)
c.5136G>T (p.Lys1712Asn)
c.5133G>T (p.Lys1711Asn)
c.5088G>T (p.Lys1696Asn)
c.4212G>T (p.Lys1404Asn)
c.3981G>T (p.Lys1327Asn)
10g.94293567T>ACA377640661PLCE1c.4171T>A (p.Ser1391Thr)
c.*1638T>A (n.*1638T>A)
n.1830T>A
n.514T>A
c.*379T>A (n.*379T>A)
c.4123T>A (p.Ser1375Thr)
n.9303T>A
n.2768T>A
c.5036-4812T>A (n.5036-4812T>A)
c.5047T>A (p.Ser1683Thr)
c.5095T>A (p.Ser1699Thr)
c.4069T>A (p.Ser1357Thr)
c.3650T>A
c.3211T>A (p.Ser1071Thr)
c.*1028T>A (n.*1028T>A)
c.4364T>A
c.3940T>A (p.Ser1314Thr)
c.5137T>A (p.Ser1713Thr)
c.5134T>A (p.Ser1712Thr)
c.5089T>A (p.Ser1697Thr)
c.4213T>A (p.Ser1405Thr)
c.3982T>A (p.Ser1328Thr)
10g.94293567T>CCA377640665PLCE1c.4171T>C (p.Ser1391Pro)
c.*1638T>C (n.*1638T>C)
n.1830T>C
n.514T>C
c.*379T>C (n.*379T>C)
c.4123T>C (p.Ser1375Pro)
n.9303T>C
n.2768T>C
c.5036-4812T>C (n.5036-4812T>C)
c.5047T>C (p.Ser1683Pro)
c.5095T>C (p.Ser1699Pro)
c.4069T>C (p.Ser1357Pro)
c.3650T>C
c.3211T>C (p.Ser1071Pro)
c.*1028T>C (n.*1028T>C)
c.4364T>C
c.3940T>C (p.Ser1314Pro)
c.5137T>C (p.Ser1713Pro)
c.5134T>C (p.Ser1712Pro)
c.5089T>C (p.Ser1697Pro)
c.4213T>C (p.Ser1405Pro)
c.3982T>C (p.Ser1328Pro)
10g.94293567T>GCA377640663PLCE1c.4171T>G (p.Ser1391Ala)
c.*1638T>G (n.*1638T>G)
n.1830T>G
n.514T>G
c.*379T>G (n.*379T>G)
c.4123T>G (p.Ser1375Ala)
n.9303T>G
n.2768T>G
c.5036-4812T>G (n.5036-4812T>G)
c.5047T>G (p.Ser1683Ala)
c.5095T>G (p.Ser1699Ala)
c.4069T>G (p.Ser1357Ala)
c.3650T>G
c.3211T>G (p.Ser1071Ala)
c.*1028T>G (n.*1028T>G)
c.4364T>G
c.3940T>G (p.Ser1314Ala)
c.5137T>G (p.Ser1713Ala)
c.5134T>G (p.Ser1712Ala)
c.5089T>G (p.Ser1697Ala)
c.4213T>G (p.Ser1405Ala)
c.3982T>G (p.Ser1328Ala)
10g.94293568C>ACA377640667PLCE1c.4172C>A (p.Ser1391Tyr)
c.*1639C>A (n.*1639C>A)
n.1831C>A
n.515C>A
c.*380C>A (n.*380C>A)
c.4124C>A (p.Ser1375Tyr)
n.9304C>A
n.2769C>A
c.5036-4811C>A (n.5036-4811C>A)
c.5048C>A (p.Ser1683Tyr)
c.5096C>A (p.Ser1699Tyr)
c.4070C>A (p.Ser1357Tyr)
c.3651C>A
c.3212C>A (p.Ser1071Tyr)
c.*1029C>A (n.*1029C>A)
c.4365C>A
c.3941C>A (p.Ser1314Tyr)
c.5138C>A (p.Ser1713Tyr)
c.5135C>A (p.Ser1712Tyr)
c.5090C>A (p.Ser1697Tyr)
c.4214C>A (p.Ser1405Tyr)
c.3983C>A (p.Ser1328Tyr)
10g.94293568C>GCA377640669PLCE1c.4172C>G (p.Ser1391Cys)
c.*1639C>G (n.*1639C>G)
n.1831C>G
n.515C>G
c.*380C>G (n.*380C>G)
c.4124C>G (p.Ser1375Cys)
n.9304C>G
n.2769C>G
c.5036-4811C>G (n.5036-4811C>G)
c.5048C>G (p.Ser1683Cys)
c.5096C>G (p.Ser1699Cys)
c.4070C>G (p.Ser1357Cys)
c.3651C>G
c.3212C>G (p.Ser1071Cys)
c.*1029C>G (n.*1029C>G)
c.4365C>G
c.3941C>G (p.Ser1314Cys)
c.5138C>G (p.Ser1713Cys)
c.5135C>G (p.Ser1712Cys)
c.5090C>G (p.Ser1697Cys)
c.4214C>G (p.Ser1405Cys)
c.3983C>G (p.Ser1328Cys)
10g.94293568C>TCA377640671PLCE1c.4172C>T (p.Ser1391Phe)
c.*1639C>T (n.*1639C>T)
n.1831C>T
n.515C>T
c.*380C>T (n.*380C>T)
c.4124C>T (p.Ser1375Phe)
n.9304C>T
n.2769C>T
c.5036-4811C>T (n.5036-4811C>T)
c.5048C>T (p.Ser1683Phe)
c.5096C>T (p.Ser1699Phe)
c.4070C>T (p.Ser1357Phe)
c.3651C>T
c.3212C>T (p.Ser1071Phe)
c.*1029C>T (n.*1029C>T)
c.4365C>T
c.3941C>T (p.Ser1314Phe)
c.5138C>T (p.Ser1713Phe)
c.5135C>T (p.Ser1712Phe)
c.5090C>T (p.Ser1697Phe)
c.4214C>T (p.Ser1405Phe)
c.3983C>T (p.Ser1328Phe)
10g.94293569C>ACA470807515PLCE1c.4173C>A (p.Ser1391=)
c.*1640C>A (n.*1640C>A)
n.1832C>A
n.516C>A
c.*381C>A (n.*381C>A)
c.4125C>A (p.Ser1375=)
n.9305C>A
n.2770C>A
c.5036-4810C>A (n.5036-4810C>A)
c.5049C>A (p.Ser1683=)
c.5097C>A (p.Ser1699=)
c.4071C>A (p.Ser1357=)
c.3652C>A
c.3213C>A (p.Ser1071=)
c.*1030C>A (n.*1030C>A)
c.4366C>A
c.3942C>A (p.Ser1314=)
c.5139C>A (p.Ser1713=)
c.5136C>A (p.Ser1712=)
c.5091C>A (p.Ser1697=)
c.4215C>A (p.Ser1405=)
c.3984C>A (p.Ser1328=)
10g.94293569C=CA1928996190PLCE1c.4173C= (p.Ser1391=)
c.*1640C= (n.*1640C=)
n.1832C=
n.516C=
c.*381C= (n.*381C=)
c.4125C= (p.Ser1375=)
n.9305C=
n.2770C=
c.5036-4810C= (n.5036-4810C=)
c.5049C= (p.Ser1683=)
c.5097C= (p.Ser1699=)
c.4071C= (p.Ser1357=)
c.3652C=
c.3213C= (p.Ser1071=)
c.*1030C= (n.*1030C=)
c.4366C=
c.3942C= (p.Ser1314=)
c.5139C= (p.Ser1713=)
c.5136C= (p.Ser1712=)
c.5091C= (p.Ser1697=)
c.4215C= (p.Ser1405=)
c.3984C= (p.Ser1328=)
10g.94293569C>GCA470807517PLCE1c.4173C>G (p.Ser1391=)
c.*1640C>G (n.*1640C>G)
n.1832C>G
n.516C>G
c.*381C>G (n.*381C>G)
c.4125C>G (p.Ser1375=)
n.9305C>G
n.2770C>G
c.5036-4810C>G (n.5036-4810C>G)
c.5049C>G (p.Ser1683=)
c.5097C>G (p.Ser1699=)
c.4071C>G (p.Ser1357=)
c.3652C>G
c.3213C>G (p.Ser1071=)
c.*1030C>G (n.*1030C>G)
c.4366C>G
c.3942C>G (p.Ser1314=)
c.5139C>G (p.Ser1713=)
c.5136C>G (p.Ser1712=)
c.5091C>G (p.Ser1697=)
c.4215C>G (p.Ser1405=)
c.3984C>G (p.Ser1328=)
10g.94293569C>TCA470807519PLCE1c.4173C>T (p.Ser1391=)
c.*1640C>T (n.*1640C>T)
n.1832C>T
n.516C>T
c.*381C>T (n.*381C>T)
c.4125C>T (p.Ser1375=)
n.9305C>T
n.2770C>T
c.5036-4810C>T (n.5036-4810C>T)
c.5049C>T (p.Ser1683=)
c.5097C>T (p.Ser1699=)
c.4071C>T (p.Ser1357=)
c.3652C>T
c.3213C>T (p.Ser1071=)
c.*1030C>T (n.*1030C>T)
c.4366C>T
c.3942C>T (p.Ser1314=)
c.5139C>T (p.Ser1713=)
c.5136C>T (p.Ser1712=)
c.5091C>T (p.Ser1697=)
c.4215C>T (p.Ser1405=)
c.3984C>T (p.Ser1328=)
dbSNP
10g.94293570A>CCA377640673PLCE1c.4174A>C (p.Ile1392Leu)
c.*1641A>C (n.*1641A>C)
n.1833A>C
n.517A>C
c.*382A>C (n.*382A>C)
c.4126A>C (p.Ile1376Leu)
n.9306A>C
n.2771A>C
c.5036-4809A>C (n.5036-4809A>C)
c.5050A>C (p.Ile1684Leu)
c.5098A>C (p.Ile1700Leu)
c.4072A>C (p.Ile1358Leu)
c.3653A>C
c.3214A>C (p.Ile1072Leu)
c.*1031A>C (n.*1031A>C)
c.4367A>C
c.3943A>C (p.Ile1315Leu)
c.5140A>C (p.Ile1714Leu)
c.5137A>C (p.Ile1713Leu)
c.5092A>C (p.Ile1698Leu)
c.4216A>C (p.Ile1406Leu)
c.3985A>C (p.Ile1329Leu)
gnomAD v4
10g.94293570A>GCA377640674PLCE1c.4174A>G (p.Ile1392Val)
c.*1641A>G (n.*1641A>G)
n.1833A>G
n.517A>G
c.*382A>G (n.*382A>G)
c.4126A>G (p.Ile1376Val)
n.9306A>G
n.2771A>G
c.5036-4809A>G (n.5036-4809A>G)
c.5050A>G (p.Ile1684Val)
c.5098A>G (p.Ile1700Val)
c.4072A>G (p.Ile1358Val)
c.3653A>G
c.3214A>G (p.Ile1072Val)
c.*1031A>G (n.*1031A>G)
c.4367A>G
c.3943A>G (p.Ile1315Val)
c.5140A>G (p.Ile1714Val)
c.5137A>G (p.Ile1713Val)
c.5092A>G (p.Ile1698Val)
c.4216A>G (p.Ile1406Val)
c.3985A>G (p.Ile1329Val)
10g.94293570A>TCA377640676PLCE1c.4174A>T (p.Ile1392Phe)
c.*1641A>T (n.*1641A>T)
n.1833A>T
n.517A>T
c.*382A>T (n.*382A>T)
c.4126A>T (p.Ile1376Phe)
n.9306A>T
n.2771A>T
c.5036-4809A>T (n.5036-4809A>T)
c.5050A>T (p.Ile1684Phe)
c.5098A>T (p.Ile1700Phe)
c.4072A>T (p.Ile1358Phe)
c.3653A>T
c.3214A>T (p.Ile1072Phe)
c.*1031A>T (n.*1031A>T)
c.4367A>T
c.3943A>T (p.Ile1315Phe)
c.5140A>T (p.Ile1714Phe)
c.5137A>T (p.Ile1713Phe)
c.5092A>T (p.Ile1698Phe)
c.4216A>T (p.Ile1406Phe)
c.3985A>T (p.Ile1329Phe)
10g.94293571T>ACA377640678PLCE1c.4175T>A (p.Ile1392Asn)
c.*1642T>A (n.*1642T>A)
n.1834T>A
n.518T>A
c.*383T>A (n.*383T>A)
c.4127T>A (p.Ile1376Asn)
n.9307T>A
n.2772T>A
c.5036-4808T>A (n.5036-4808T>A)
c.5051T>A (p.Ile1684Asn)
c.5099T>A (p.Ile1700Asn)
c.4073T>A (p.Ile1358Asn)
c.3654T>A
c.3215T>A (p.Ile1072Asn)
c.*1032T>A (n.*1032T>A)
c.4368T>A
c.3944T>A (p.Ile1315Asn)
c.5141T>A (p.Ile1714Asn)
c.5138T>A (p.Ile1713Asn)
c.5093T>A (p.Ile1698Asn)
c.4217T>A (p.Ile1406Asn)
c.3986T>A (p.Ile1329Asn)
10g.94293571T>CCA10632925PLCE1c.4175T>C (p.Ile1392Thr)
c.*1642T>C (n.*1642T>C)
n.1834T>C
n.518T>C
c.*383T>C (n.*383T>C)
c.4127T>C (p.Ile1376Thr)
n.9307T>C
n.2772T>C
c.5036-4808T>C (n.5036-4808T>C)
c.5051T>C (p.Ile1684Thr)
c.5099T>C (p.Ile1700Thr)
c.4073T>C (p.Ile1358Thr)
c.3654T>C
c.3215T>C (p.Ile1072Thr)
c.*1032T>C (n.*1032T>C)
c.4368T>C
c.3944T>C (p.Ile1315Thr)
c.5141T>C (p.Ile1714Thr)
c.5138T>C (p.Ile1713Thr)
c.5093T>C (p.Ile1698Thr)
c.4217T>C (p.Ile1406Thr)
c.3986T>C (p.Ile1329Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.94293571T>GCA377640681PLCE1c.4175T>G (p.Ile1392Ser)
c.*1642T>G (n.*1642T>G)
n.1834T>G
n.518T>G
c.*383T>G (n.*383T>G)
c.4127T>G (p.Ile1376Ser)
n.9307T>G
n.2772T>G
c.5036-4808T>G (n.5036-4808T>G)
c.5051T>G (p.Ile1684Ser)
c.5099T>G (p.Ile1700Ser)
c.4073T>G (p.Ile1358Ser)
c.3654T>G
c.3215T>G (p.Ile1072Ser)
c.*1032T>G (n.*1032T>G)
c.4368T>G
c.3944T>G (p.Ile1315Ser)
c.5141T>G (p.Ile1714Ser)
c.5138T>G (p.Ile1713Ser)
c.5093T>G (p.Ile1698Ser)
c.4217T>G (p.Ile1406Ser)
c.3986T>G (p.Ile1329Ser)
10g.94293571T=CA1928996191PLCE1c.4175T= (p.Ile1392=)
c.*1642T= (n.*1642T=)
n.1834T=
n.518T=
c.*383T= (n.*383T=)
c.4127T= (p.Ile1376=)
n.9307T=
n.2772T=
c.5036-4808T= (n.5036-4808T=)
c.5051T= (p.Ile1684=)
c.5099T= (p.Ile1700=)
c.4073T= (p.Ile1358=)
c.3654T=
c.3215T= (p.Ile1072=)
c.*1032T= (n.*1032T=)
c.4368T=
c.3944T= (p.Ile1315=)
c.5141T= (p.Ile1714=)
c.5138T= (p.Ile1713=)
c.5093T= (p.Ile1698=)
c.4217T= (p.Ile1406=)
c.3986T= (p.Ile1329=)
10g.94293572T>ACA470807525PLCE1c.4176T>A (p.Ile1392=)
c.*1643T>A (n.*1643T>A)
n.1835T>A
n.519T>A
c.*384T>A (n.*384T>A)
c.4128T>A (p.Ile1376=)
n.9308T>A
n.2773T>A
c.5036-4807T>A (n.5036-4807T>A)
c.5052T>A (p.Ile1684=)
c.5100T>A (p.Ile1700=)
c.4074T>A (p.Ile1358=)
c.3655T>A
c.3216T>A (p.Ile1072=)
c.*1033T>A (n.*1033T>A)
c.4369T>A
c.3945T>A (p.Ile1315=)
c.5142T>A (p.Ile1714=)
c.5139T>A (p.Ile1713=)
c.5094T>A (p.Ile1698=)
c.4218T>A (p.Ile1406=)
c.3987T>A (p.Ile1329=)
10g.94293572T>CCA470807527PLCE1c.4176T>C (p.Ile1392=)
c.*1643T>C (n.*1643T>C)
n.1835T>C
n.519T>C
c.*384T>C (n.*384T>C)
c.4128T>C (p.Ile1376=)
n.9308T>C
n.2773T>C
c.5036-4807T>C (n.5036-4807T>C)
c.5052T>C (p.Ile1684=)
c.5100T>C (p.Ile1700=)
c.4074T>C (p.Ile1358=)
c.3655T>C
c.3216T>C (p.Ile1072=)
c.*1033T>C (n.*1033T>C)
c.4369T>C
c.3945T>C (p.Ile1315=)
c.5142T>C (p.Ile1714=)
c.5139T>C (p.Ile1713=)
c.5094T>C (p.Ile1698=)
c.4218T>C (p.Ile1406=)
c.3987T>C (p.Ile1329=)
10g.94293572T>GCA377640683PLCE1c.4176T>G (p.Ile1392Met)
c.*1643T>G (n.*1643T>G)
n.1835T>G
n.519T>G
c.*384T>G (n.*384T>G)
c.4128T>G (p.Ile1376Met)
n.9308T>G
n.2773T>G
c.5036-4807T>G (n.5036-4807T>G)
c.5052T>G (p.Ile1684Met)
c.5100T>G (p.Ile1700Met)
c.4074T>G (p.Ile1358Met)
c.3655T>G
c.3216T>G (p.Ile1072Met)
c.*1033T>G (n.*1033T>G)
c.4369T>G
c.3945T>G (p.Ile1315Met)
c.5142T>G (p.Ile1714Met)
c.5139T>G (p.Ile1713Met)
c.5094T>G (p.Ile1698Met)
c.4218T>G (p.Ile1406Met)
c.3987T>G (p.Ile1329Met)
COSMIC COSMIC COSMIC COSMIC
10g.94293573T>ACA377640685PLCE1c.4177T>A (p.Phe1393Ile)
c.*1644T>A (n.*1644T>A)
n.1836T>A
n.520T>A
c.*385T>A (n.*385T>A)
c.4129T>A (p.Phe1377Ile)
n.9309T>A
n.2774T>A
c.5036-4806T>A (n.5036-4806T>A)
c.5053T>A (p.Phe1685Ile)
c.5101T>A (p.Phe1701Ile)
c.4075T>A (p.Phe1359Ile)
c.3656T>A
c.3217T>A (p.Phe1073Ile)
c.*1034T>A (n.*1034T>A)
c.4370T>A
c.3946T>A (p.Phe1316Ile)
c.5143T>A (p.Phe1715Ile)
c.5140T>A (p.Phe1714Ile)
c.5095T>A (p.Phe1699Ile)
c.4219T>A (p.Phe1407Ile)
c.3988T>A (p.Phe1330Ile)
10g.94293573T>CCA377640687PLCE1c.4177T>C (p.Phe1393Leu)
c.*1644T>C (n.*1644T>C)
n.1836T>C
n.520T>C
c.*385T>C (n.*385T>C)
c.4129T>C (p.Phe1377Leu)
n.9309T>C
n.2774T>C
c.5036-4806T>C (n.5036-4806T>C)
c.5053T>C (p.Phe1685Leu)
c.5101T>C (p.Phe1701Leu)
c.4075T>C (p.Phe1359Leu)
c.3656T>C
c.3217T>C (p.Phe1073Leu)
c.*1034T>C (n.*1034T>C)
c.4370T>C
c.3946T>C (p.Phe1316Leu)
c.5143T>C (p.Phe1715Leu)
c.5140T>C (p.Phe1714Leu)
c.5095T>C (p.Phe1699Leu)
c.4219T>C (p.Phe1407Leu)
c.3988T>C (p.Phe1330Leu)
10g.94293573T>GCA377640689PLCE1c.4177T>G (p.Phe1393Val)
c.*1644T>G (n.*1644T>G)
n.1836T>G
n.520T>G
c.*385T>G (n.*385T>G)
c.4129T>G (p.Phe1377Val)
n.9309T>G
n.2774T>G
c.5036-4806T>G (n.5036-4806T>G)
c.5053T>G (p.Phe1685Val)
c.5101T>G (p.Phe1701Val)
c.4075T>G (p.Phe1359Val)
c.3656T>G
c.3217T>G (p.Phe1073Val)
c.*1034T>G (n.*1034T>G)
c.4370T>G
c.3946T>G (p.Phe1316Val)
c.5143T>G (p.Phe1715Val)
c.5140T>G (p.Phe1714Val)
c.5095T>G (p.Phe1699Val)
c.4219T>G (p.Phe1407Val)
c.3988T>G (p.Phe1330Val)
10g.94293574T>ACA377640695PLCE1c.4178T>A (p.Phe1393Tyr)
c.*1645T>A (n.*1645T>A)
n.1837T>A
n.521T>A
c.*386T>A (n.*386T>A)
c.4130T>A (p.Phe1377Tyr)
n.9310T>A
n.2775T>A
c.5036-4805T>A (n.5036-4805T>A)
c.5054T>A (p.Phe1685Tyr)
c.5102T>A (p.Phe1701Tyr)
c.4076T>A (p.Phe1359Tyr)
c.3657T>A
c.3218T>A (p.Phe1073Tyr)
c.*1035T>A (n.*1035T>A)
c.4371T>A
c.3947T>A (p.Phe1316Tyr)
c.5144T>A (p.Phe1715Tyr)
c.5141T>A (p.Phe1714Tyr)
c.5096T>A (p.Phe1699Tyr)
c.4220T>A (p.Phe1407Tyr)
c.3989T>A (p.Phe1330Tyr)
10g.94293574T>CCA377640691PLCE1c.4178T>C (p.Phe1393Ser)
c.*1645T>C (n.*1645T>C)
n.1837T>C
n.521T>C
c.*386T>C (n.*386T>C)
c.4130T>C (p.Phe1377Ser)
n.9310T>C
n.2775T>C
c.5036-4805T>C (n.5036-4805T>C)
c.5054T>C (p.Phe1685Ser)
c.5102T>C (p.Phe1701Ser)
c.4076T>C (p.Phe1359Ser)
c.3657T>C
c.3218T>C (p.Phe1073Ser)
c.*1035T>C (n.*1035T>C)
c.4371T>C
c.3947T>C (p.Phe1316Ser)
c.5144T>C (p.Phe1715Ser)
c.5141T>C (p.Phe1714Ser)
c.5096T>C (p.Phe1699Ser)
c.4220T>C (p.Phe1407Ser)
c.3989T>C (p.Phe1330Ser)
ClinVar dbSNP
10g.94293574T>GCA377640693PLCE1c.4178T>G (p.Phe1393Cys)
c.*1645T>G (n.*1645T>G)
n.1837T>G
n.521T>G
c.*386T>G (n.*386T>G)
c.4130T>G (p.Phe1377Cys)
n.9310T>G
n.2775T>G
c.5036-4805T>G (n.5036-4805T>G)
c.5054T>G (p.Phe1685Cys)
c.5102T>G (p.Phe1701Cys)
c.4076T>G (p.Phe1359Cys)
c.3657T>G
c.3218T>G (p.Phe1073Cys)
c.*1035T>G (n.*1035T>G)
c.4371T>G
c.3947T>G (p.Phe1316Cys)
c.5144T>G (p.Phe1715Cys)
c.5141T>G (p.Phe1714Cys)
c.5096T>G (p.Phe1699Cys)
c.4220T>G (p.Phe1407Cys)
c.3989T>G (p.Phe1330Cys)
10g.94293575T>ACA377640697PLCE1c.4179T>A (p.Phe1393Leu)
c.*1646T>A (n.*1646T>A)
n.1838T>A
n.522T>A
c.*387T>A (n.*387T>A)
c.4131T>A (p.Phe1377Leu)
n.9311T>A
n.2776T>A
c.5036-4804T>A (n.5036-4804T>A)
c.5055T>A (p.Phe1685Leu)
c.5103T>A (p.Phe1701Leu)
c.4077T>A (p.Phe1359Leu)
c.3658T>A
c.3219T>A (p.Phe1073Leu)
c.*1036T>A (n.*1036T>A)
c.4372T>A
c.3948T>A (p.Phe1316Leu)
c.5145T>A (p.Phe1715Leu)
c.5142T>A (p.Phe1714Leu)
c.5097T>A (p.Phe1699Leu)
c.4221T>A (p.Phe1407Leu)
c.3990T>A (p.Phe1330Leu)
10g.94293575T>CCA470807535PLCE1c.4179T>C (p.Phe1393=)
c.*1646T>C (n.*1646T>C)
n.1838T>C
n.522T>C
c.*387T>C (n.*387T>C)
c.4131T>C (p.Phe1377=)
n.9311T>C
n.2776T>C
c.5036-4804T>C (n.5036-4804T>C)
c.5055T>C (p.Phe1685=)
c.5103T>C (p.Phe1701=)
c.4077T>C (p.Phe1359=)
c.3658T>C
c.3219T>C (p.Phe1073=)
c.*1036T>C (n.*1036T>C)
c.4372T>C
c.3948T>C (p.Phe1316=)
c.5145T>C (p.Phe1715=)
c.5142T>C (p.Phe1714=)
c.5097T>C (p.Phe1699=)
c.4221T>C (p.Phe1407=)
c.3990T>C (p.Phe1330=)
10g.94293575T>GCA377640698PLCE1c.4179T>G (p.Phe1393Leu)
c.*1646T>G (n.*1646T>G)
n.1838T>G
n.522T>G
c.*387T>G (n.*387T>G)
c.4131T>G (p.Phe1377Leu)
n.9311T>G
n.2776T>G
c.5036-4804T>G (n.5036-4804T>G)
c.5055T>G (p.Phe1685Leu)
c.5103T>G (p.Phe1701Leu)
c.4077T>G (p.Phe1359Leu)
c.3658T>G
c.3219T>G (p.Phe1073Leu)
c.*1036T>G (n.*1036T>G)
c.4372T>G
c.3948T>G (p.Phe1316Leu)
c.5145T>G (p.Phe1715Leu)
c.5142T>G (p.Phe1714Leu)
c.5097T>G (p.Phe1699Leu)
c.4221T>G (p.Phe1407Leu)
c.3990T>G (p.Phe1330Leu)
dbSNP gnomAD v2 gnomAD v4
10g.94293575T=CA1928996192PLCE1c.4179T= (p.Phe1393=)
c.*1646T= (n.*1646T=)
n.1838T=
n.522T=
c.*387T= (n.*387T=)
c.4131T= (p.Phe1377=)
n.9311T=
n.2776T=
c.5036-4804T= (n.5036-4804T=)
c.5055T= (p.Phe1685=)
c.5103T= (p.Phe1701=)
c.4077T= (p.Phe1359=)
c.3658T=
c.3219T= (p.Phe1073=)
c.*1036T= (n.*1036T=)
c.4372T=
c.3948T= (p.Phe1316=)
c.5145T= (p.Phe1715=)
c.5142T= (p.Phe1714=)
c.5097T= (p.Phe1699=)
c.4221T= (p.Phe1407=)
c.3990T= (p.Phe1330=)
10g.94293576G>ACA377640702PLCE1c.4180G>A (p.Gly1394Ser)
c.*1647G>A (n.*1647G>A)
n.1839G>A
n.523G>A
c.*388G>A (n.*388G>A)
c.4132G>A (p.Gly1378Ser)
n.9312G>A
n.2777G>A
c.5036-4803G>A (n.5036-4803G>A)
c.5056G>A (p.Gly1686Ser)
c.5104G>A (p.Gly1702Ser)
c.4078G>A (p.Gly1360Ser)
c.3659G>A
c.3220G>A (p.Gly1074Ser)
c.*1037G>A (n.*1037G>A)
c.4373G>A
c.3949G>A (p.Gly1317Ser)
c.5146G>A (p.Gly1716Ser)
c.5143G>A (p.Gly1715Ser)
c.5098G>A (p.Gly1700Ser)
c.4222G>A (p.Gly1408Ser)
c.3991G>A (p.Gly1331Ser)
10g.94293576G>CCA377640703PLCE1c.4180G>C (p.Gly1394Arg)
c.*1647G>C (n.*1647G>C)
n.1839G>C
n.523G>C
c.*388G>C (n.*388G>C)
c.4132G>C (p.Gly1378Arg)
n.9312G>C
n.2777G>C
c.5036-4803G>C (n.5036-4803G>C)
c.5056G>C (p.Gly1686Arg)
c.5104G>C (p.Gly1702Arg)
c.4078G>C (p.Gly1360Arg)
c.3659G>C
c.3220G>C (p.Gly1074Arg)
c.*1037G>C (n.*1037G>C)
c.4373G>C
c.3949G>C (p.Gly1317Arg)
c.5146G>C (p.Gly1716Arg)
c.5143G>C (p.Gly1715Arg)
c.5098G>C (p.Gly1700Arg)
c.4222G>C (p.Gly1408Arg)
c.3991G>C (p.Gly1331Arg)
10g.94293576G>TCA377640705PLCE1c.4180G>T (p.Gly1394Cys)
c.*1647G>T (n.*1647G>T)
n.1839G>T
n.523G>T
c.*388G>T (n.*388G>T)
c.4132G>T (p.Gly1378Cys)
n.9312G>T
n.2777G>T
c.5036-4803G>T (n.5036-4803G>T)
c.5056G>T (p.Gly1686Cys)
c.5104G>T (p.Gly1702Cys)
c.4078G>T (p.Gly1360Cys)
c.3659G>T
c.3220G>T (p.Gly1074Cys)
c.*1037G>T (n.*1037G>T)
c.4373G>T
c.3949G>T (p.Gly1317Cys)
c.5146G>T (p.Gly1716Cys)
c.5143G>T (p.Gly1715Cys)
c.5098G>T (p.Gly1700Cys)
c.4222G>T (p.Gly1408Cys)
c.3991G>T (p.Gly1331Cys)
10g.94293577G>ACA377640707PLCE1c.4181G>A (p.Gly1394Asp)
c.*1648G>A (n.*1648G>A)
n.1840G>A
n.524G>A
c.*389G>A (n.*389G>A)
c.4133G>A (p.Gly1378Asp)
n.9313G>A
n.2778G>A
c.5036-4802G>A (n.5036-4802G>A)
c.5057G>A (p.Gly1686Asp)
c.5105G>A (p.Gly1702Asp)
c.4079G>A (p.Gly1360Asp)
c.3660G>A
c.3221G>A (p.Gly1074Asp)
c.*1038G>A (n.*1038G>A)
c.4374G>A
c.3950G>A (p.Gly1317Asp)
c.5147G>A (p.Gly1716Asp)
c.5144G>A (p.Gly1715Asp)
c.5099G>A (p.Gly1700Asp)
c.4223G>A (p.Gly1408Asp)
c.3992G>A (p.Gly1331Asp)
10g.94293577G>CCA377640709PLCE1c.4181G>C (p.Gly1394Ala)
c.*1648G>C (n.*1648G>C)
n.1840G>C
n.524G>C
c.*389G>C (n.*389G>C)
c.4133G>C (p.Gly1378Ala)
n.9313G>C
n.2778G>C
c.5036-4802G>C (n.5036-4802G>C)
c.5057G>C (p.Gly1686Ala)
c.5105G>C (p.Gly1702Ala)
c.4079G>C (p.Gly1360Ala)
c.3660G>C
c.3221G>C (p.Gly1074Ala)
c.*1038G>C (n.*1038G>C)
c.4374G>C
c.3950G>C (p.Gly1317Ala)
c.5147G>C (p.Gly1716Ala)
c.5144G>C (p.Gly1715Ala)
c.5099G>C (p.Gly1700Ala)
c.4223G>C (p.Gly1408Ala)
c.3992G>C (p.Gly1331Ala)
10g.94293577G>TCA377640710PLCE1c.4181G>T (p.Gly1394Val)
c.*1648G>T (n.*1648G>T)
n.1840G>T
n.524G>T
c.*389G>T (n.*389G>T)
c.4133G>T (p.Gly1378Val)
n.9313G>T
n.2778G>T
c.5036-4802G>T (n.5036-4802G>T)
c.5057G>T (p.Gly1686Val)
c.5105G>T (p.Gly1702Val)
c.4079G>T (p.Gly1360Val)
c.3660G>T
c.3221G>T (p.Gly1074Val)
c.*1038G>T (n.*1038G>T)
c.4374G>T
c.3950G>T (p.Gly1317Val)
c.5147G>T (p.Gly1716Val)
c.5144G>T (p.Gly1715Val)
c.5099G>T (p.Gly1700Val)
c.4223G>T (p.Gly1408Val)
c.3992G>T (p.Gly1331Val)
10g.94293578C>ACA470807541PLCE1c.4182C>A (p.Gly1394=)
c.*1649C>A (n.*1649C>A)
n.1841C>A
n.525C>A
c.*390C>A (n.*390C>A)
c.4134C>A (p.Gly1378=)
n.9314C>A
n.2779C>A
c.5036-4801C>A (n.5036-4801C>A)
c.5058C>A (p.Gly1686=)
c.5106C>A (p.Gly1702=)
c.4080C>A (p.Gly1360=)
c.3661C>A
c.3222C>A (p.Gly1074=)
c.*1039C>A (n.*1039C>A)
c.4375C>A
c.3951C>A (p.Gly1317=)
c.5148C>A (p.Gly1716=)
c.5145C>A (p.Gly1715=)
c.5100C>A (p.Gly1700=)
c.4224C>A (p.Gly1408=)
c.3993C>A (p.Gly1331=)
10g.94293578C>GCA470807543PLCE1c.4182C>G (p.Gly1394=)
c.*1649C>G (n.*1649C>G)
n.1841C>G
n.525C>G
c.*390C>G (n.*390C>G)
c.4134C>G (p.Gly1378=)
n.9314C>G
n.2779C>G
c.5036-4801C>G (n.5036-4801C>G)
c.5058C>G (p.Gly1686=)
c.5106C>G (p.Gly1702=)
c.4080C>G (p.Gly1360=)
c.3661C>G
c.3222C>G (p.Gly1074=)
c.*1039C>G (n.*1039C>G)
c.4375C>G
c.3951C>G (p.Gly1317=)
c.5148C>G (p.Gly1716=)
c.5145C>G (p.Gly1715=)
c.5100C>G (p.Gly1700=)
c.4224C>G (p.Gly1408=)
c.3993C>G (p.Gly1331=)
10g.94293578C>TCA470807544PLCE1c.4182C>T (p.Gly1394=)
c.*1649C>T (n.*1649C>T)
n.1841C>T
n.525C>T
c.*390C>T (n.*390C>T)
c.4134C>T (p.Gly1378=)
n.9314C>T
n.2779C>T
c.5036-4801C>T (n.5036-4801C>T)
c.5058C>T (p.Gly1686=)
c.5106C>T (p.Gly1702=)
c.4080C>T (p.Gly1360=)
c.3661C>T
c.3222C>T (p.Gly1074=)
c.*1039C>T (n.*1039C>T)
c.4375C>T
c.3951C>T (p.Gly1317=)
c.5148C>T (p.Gly1716=)
c.5145C>T (p.Gly1715=)
c.5100C>T (p.Gly1700=)
c.4224C>T (p.Gly1408=)
c.3993C>T (p.Gly1331=)
10g.94293579A>CCA377640713PLCE1c.4183A>C (p.Asn1395His)
c.*1650A>C (n.*1650A>C)
n.1842A>C
n.526A>C
c.*391A>C (n.*391A>C)
c.4135A>C (p.Asn1379His)
n.9315A>C
n.2780A>C
c.5036-4800A>C (n.5036-4800A>C)
c.5059A>C (p.Asn1687His)
c.5107A>C (p.Asn1703His)
c.4081A>C (p.Asn1361His)
c.3662A>C
c.3223A>C (p.Asn1075His)
c.*1040A>C (n.*1040A>C)
c.4376A>C
c.3952A>C (p.Asn1318His)
c.5149A>C (p.Asn1717His)
c.5146A>C (p.Asn1716His)
c.5101A>C (p.Asn1701His)
c.4225A>C (p.Asn1409His)
c.3994A>C (p.Asn1332His)
10g.94293579A>GCA377640715PLCE1c.4183A>G (p.Asn1395Asp)
c.*1650A>G (n.*1650A>G)
n.1842A>G
n.526A>G
c.*391A>G (n.*391A>G)
c.4135A>G (p.Asn1379Asp)
n.9315A>G
n.2780A>G
c.5036-4800A>G (n.5036-4800A>G)
c.5059A>G (p.Asn1687Asp)
c.5107A>G (p.Asn1703Asp)
c.4081A>G (p.Asn1361Asp)
c.3662A>G
c.3223A>G (p.Asn1075Asp)
c.*1040A>G (n.*1040A>G)
c.4376A>G
c.3952A>G (p.Asn1318Asp)
c.5149A>G (p.Asn1717Asp)
c.5146A>G (p.Asn1716Asp)
c.5101A>G (p.Asn1701Asp)
c.4225A>G (p.Asn1409Asp)
c.3994A>G (p.Asn1332Asp)
10g.94293579A>TCA377640716PLCE1c.4183A>T (p.Asn1395Tyr)
c.*1650A>T (n.*1650A>T)
n.1842A>T
n.526A>T
c.*391A>T (n.*391A>T)
c.4135A>T (p.Asn1379Tyr)
n.9315A>T
n.2780A>T
c.5036-4800A>T (n.5036-4800A>T)
c.5059A>T (p.Asn1687Tyr)
c.5107A>T (p.Asn1703Tyr)
c.4081A>T (p.Asn1361Tyr)
c.3662A>T
c.3223A>T (p.Asn1075Tyr)
c.*1040A>T (n.*1040A>T)
c.4376A>T
c.3952A>T (p.Asn1318Tyr)
c.5149A>T (p.Asn1717Tyr)
c.5146A>T (p.Asn1716Tyr)
c.5101A>T (p.Asn1701Tyr)
c.4225A>T (p.Asn1409Tyr)
c.3994A>T (p.Asn1332Tyr)
10g.94293580A>CCA377640719PLCE1c.4184A>C (p.Asn1395Thr)
c.*1651A>C (n.*1651A>C)
n.1843A>C
n.527A>C
c.*392A>C (n.*392A>C)
c.4136A>C (p.Asn1379Thr)
n.9316A>C
n.2781A>C
c.5036-4799A>C (n.5036-4799A>C)
c.5060A>C (p.Asn1687Thr)
c.5108A>C (p.Asn1703Thr)
c.4082A>C (p.Asn1361Thr)
c.3663A>C
c.3224A>C (p.Asn1075Thr)
c.*1041A>C (n.*1041A>C)
c.4377A>C
c.3953A>C (p.Asn1318Thr)
c.5150A>C (p.Asn1717Thr)
c.5147A>C (p.Asn1716Thr)
c.5102A>C (p.Asn1701Thr)
c.4226A>C (p.Asn1409Thr)
c.3995A>C (p.Asn1332Thr)
10g.94293580A>GCA377640722PLCE1c.4184A>G (p.Asn1395Ser)
c.*1651A>G (n.*1651A>G)
n.1843A>G
n.527A>G
c.*392A>G (n.*392A>G)
c.4136A>G (p.Asn1379Ser)
n.9316A>G
n.2781A>G
c.5036-4799A>G (n.5036-4799A>G)
c.5060A>G (p.Asn1687Ser)
c.5108A>G (p.Asn1703Ser)
c.4082A>G (p.Asn1361Ser)
c.3663A>G
c.3224A>G (p.Asn1075Ser)
c.*1041A>G (n.*1041A>G)
c.4377A>G
c.3953A>G (p.Asn1318Ser)
c.5150A>G (p.Asn1717Ser)
c.5147A>G (p.Asn1716Ser)
c.5102A>G (p.Asn1701Ser)
c.4226A>G (p.Asn1409Ser)
c.3995A>G (p.Asn1332Ser)
gnomAD v4
10g.94293580A>TCA377640720PLCE1c.4184A>T (p.Asn1395Ile)
c.*1651A>T (n.*1651A>T)
n.1843A>T
n.527A>T
c.*392A>T (n.*392A>T)
c.4136A>T (p.Asn1379Ile)
n.9316A>T
n.2781A>T
c.5036-4799A>T (n.5036-4799A>T)
c.5060A>T (p.Asn1687Ile)
c.5108A>T (p.Asn1703Ile)
c.4082A>T (p.Asn1361Ile)
c.3663A>T
c.3224A>T (p.Asn1075Ile)
c.*1041A>T (n.*1041A>T)
c.4377A>T
c.3953A>T (p.Asn1318Ile)
c.5150A>T (p.Asn1717Ile)
c.5147A>T (p.Asn1716Ile)
c.5102A>T (p.Asn1701Ile)
c.4226A>T (p.Asn1409Ile)
c.3995A>T (p.Asn1332Ile)
gnomAD v4
10g.94293581C>ACA377640723PLCE1c.4185C>A (p.Asn1395Lys)
c.*1652C>A (n.*1652C>A)
n.1844C>A
n.528C>A
c.*393C>A (n.*393C>A)
c.4137C>A (p.Asn1379Lys)
n.9317C>A
n.2782C>A
c.5036-4798C>A (n.5036-4798C>A)
c.5061C>A (p.Asn1687Lys)
c.5109C>A (p.Asn1703Lys)
c.4083C>A (p.Asn1361Lys)
c.3664C>A
c.3225C>A (p.Asn1075Lys)
c.*1042C>A (n.*1042C>A)
c.4378C>A
c.3954C>A (p.Asn1318Lys)
c.5151C>A (p.Asn1717Lys)
c.5148C>A (p.Asn1716Lys)
c.5103C>A (p.Asn1701Lys)
c.4227C>A (p.Asn1409Lys)
c.3996C>A (p.Asn1332Lys)
10g.94293581C=CA1928996193PLCE1c.4185C= (p.Asn1395=)
c.*1652C= (n.*1652C=)
n.1844C=
n.528C=
c.*393C= (n.*393C=)
c.4137C= (p.Asn1379=)
n.9317C=
n.2782C=
c.5036-4798C= (n.5036-4798C=)
c.5061C= (p.Asn1687=)
c.5109C= (p.Asn1703=)
c.4083C= (p.Asn1361=)
c.3664C=
c.3225C= (p.Asn1075=)
c.*1042C= (n.*1042C=)
c.4378C=
c.3954C= (p.Asn1318=)
c.5151C= (p.Asn1717=)
c.5148C= (p.Asn1716=)
c.5103C= (p.Asn1701=)
c.4227C= (p.Asn1409=)
c.3996C= (p.Asn1332=)
10g.94293581C>GCA377640725PLCE1c.4185C>G (p.Asn1395Lys)
c.*1652C>G (n.*1652C>G)
n.1844C>G
n.528C>G
c.*393C>G (n.*393C>G)
c.4137C>G (p.Asn1379Lys)
n.9317C>G
n.2782C>G
c.5036-4798C>G (n.5036-4798C>G)
c.5061C>G (p.Asn1687Lys)
c.5109C>G (p.Asn1703Lys)
c.4083C>G (p.Asn1361Lys)
c.3664C>G
c.3225C>G (p.Asn1075Lys)
c.*1042C>G (n.*1042C>G)
c.4378C>G
c.3954C>G (p.Asn1318Lys)
c.5151C>G (p.Asn1717Lys)
c.5148C>G (p.Asn1716Lys)
c.5103C>G (p.Asn1701Lys)
c.4227C>G (p.Asn1409Lys)
c.3996C>G (p.Asn1332Lys)
10g.94293581C>TCA470807552PLCE1c.4185C>T (p.Asn1395=)
c.*1652C>T (n.*1652C>T)
n.1844C>T
n.528C>T
c.*393C>T (n.*393C>T)
c.4137C>T (p.Asn1379=)
n.9317C>T
n.2782C>T
c.5036-4798C>T (n.5036-4798C>T)
c.5061C>T (p.Asn1687=)
c.5109C>T (p.Asn1703=)
c.4083C>T (p.Asn1361=)
c.3664C>T
c.3225C>T (p.Asn1075=)
c.*1042C>T (n.*1042C>T)
c.4378C>T
c.3954C>T (p.Asn1318=)
c.5151C>T (p.Asn1717=)
c.5148C>T (p.Asn1716=)
c.5103C>T (p.Asn1701=)
c.4227C>T (p.Asn1409=)
c.3996C>T (p.Asn1332=)
dbSNP gnomAD v3 gnomAD v4
10g.94293582A>CCA377640727PLCE1c.4186A>C (p.Asn1396His)
c.*1653A>C (n.*1653A>C)
n.1845A>C
n.529A>C
c.*394A>C (n.*394A>C)
c.4138A>C (p.Asn1380His)
n.9318A>C
n.2783A>C
c.5036-4797A>C (n.5036-4797A>C)
c.5062A>C (p.Asn1688His)
c.5110A>C (p.Asn1704His)
c.4084A>C (p.Asn1362His)
c.3665A>C
c.3226A>C (p.Asn1076His)
c.*1043A>C (n.*1043A>C)
c.4379A>C
c.3955A>C (p.Asn1319His)
c.5152A>C (p.Asn1718His)
c.5149A>C (p.Asn1717His)
c.5104A>C (p.Asn1702His)
c.4228A>C (p.Asn1410His)
c.3997A>C (p.Asn1333His)
10g.94293582A>GCA377640729PLCE1c.4186A>G (p.Asn1396Asp)
c.*1653A>G (n.*1653A>G)
n.1845A>G
n.529A>G
c.*394A>G (n.*394A>G)
c.4138A>G (p.Asn1380Asp)
n.9318A>G
n.2783A>G
c.5036-4797A>G (n.5036-4797A>G)
c.5062A>G (p.Asn1688Asp)
c.5110A>G (p.Asn1704Asp)
c.4084A>G (p.Asn1362Asp)
c.3665A>G
c.3226A>G (p.Asn1076Asp)
c.*1043A>G (n.*1043A>G)
c.4379A>G
c.3955A>G (p.Asn1319Asp)
c.5152A>G (p.Asn1718Asp)
c.5149A>G (p.Asn1717Asp)
c.5104A>G (p.Asn1702Asp)
c.4228A>G (p.Asn1410Asp)
c.3997A>G (p.Asn1333Asp)
10g.94293582A>TCA377640731PLCE1c.4186A>T (p.Asn1396Tyr)
c.*1653A>T (n.*1653A>T)
n.1845A>T
n.529A>T
c.*394A>T (n.*394A>T)
c.4138A>T (p.Asn1380Tyr)
n.9318A>T
n.2783A>T
c.5036-4797A>T (n.5036-4797A>T)
c.5062A>T (p.Asn1688Tyr)
c.5110A>T (p.Asn1704Tyr)
c.4084A>T (p.Asn1362Tyr)
c.3665A>T
c.3226A>T (p.Asn1076Tyr)
c.*1043A>T (n.*1043A>T)
c.4379A>T
c.3955A>T (p.Asn1319Tyr)
c.5152A>T (p.Asn1718Tyr)
c.5149A>T (p.Asn1717Tyr)
c.5104A>T (p.Asn1702Tyr)
c.4228A>T (p.Asn1410Tyr)
c.3997A>T (p.Asn1333Tyr)
10g.94293583A=CA1928996194PLCE1c.4187A= (p.Asn1396=)
c.*1654A= (n.*1654A=)
n.1846A=
n.530A=
c.*395A= (n.*395A=)
c.4139A= (p.Asn1380=)
n.9319A=
n.2784A=
c.5036-4796A= (n.5036-4796A=)
c.5063A= (p.Asn1688=)
c.5111A= (p.Asn1704=)
c.4085A= (p.Asn1362=)
c.3666A=
c.3227A= (p.Asn1076=)
c.*1044A= (n.*1044A=)
c.4380A=
c.3956A= (p.Asn1319=)
c.5153A= (p.Asn1718=)
c.5150A= (p.Asn1717=)
c.5105A= (p.Asn1702=)
c.4229A= (p.Asn1410=)
c.3998A= (p.Asn1333=)
10g.94293583A>CCA377640733PLCE1c.4187A>C (p.Asn1396Thr)
c.*1654A>C (n.*1654A>C)
n.1846A>C
n.530A>C
c.*395A>C (n.*395A>C)
c.4139A>C (p.Asn1380Thr)
n.9319A>C
n.2784A>C
c.5036-4796A>C (n.5036-4796A>C)
c.5063A>C (p.Asn1688Thr)
c.5111A>C (p.Asn1704Thr)
c.4085A>C (p.Asn1362Thr)
c.3666A>C
c.3227A>C (p.Asn1076Thr)
c.*1044A>C (n.*1044A>C)
c.4380A>C
c.3956A>C (p.Asn1319Thr)
c.5153A>C (p.Asn1718Thr)
c.5150A>C (p.Asn1717Thr)
c.5105A>C (p.Asn1702Thr)
c.4229A>C (p.Asn1410Thr)
c.3998A>C (p.Asn1333Thr)
10g.94293583A>GCA5613287PLCE1c.4187A>G (p.Asn1396Ser)
c.*1654A>G (n.*1654A>G)
n.1846A>G
n.530A>G
c.*395A>G (n.*395A>G)
c.4139A>G (p.Asn1380Ser)
n.9319A>G
n.2784A>G
c.5036-4796A>G (n.5036-4796A>G)
c.5063A>G (p.Asn1688Ser)
c.5111A>G (p.Asn1704Ser)
c.4085A>G (p.Asn1362Ser)
c.3666A>G
c.3227A>G (p.Asn1076Ser)
c.*1044A>G (n.*1044A>G)
c.4380A>G
c.3956A>G (p.Asn1319Ser)
c.5153A>G (p.Asn1718Ser)
c.5150A>G (p.Asn1717Ser)
c.5105A>G (p.Asn1702Ser)
c.4229A>G (p.Asn1410Ser)
c.3998A>G (p.Asn1333Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94293583A>TCA377640736PLCE1c.4187A>T (p.Asn1396Ile)
c.*1654A>T (n.*1654A>T)
n.1846A>T
n.530A>T
c.*395A>T (n.*395A>T)
c.4139A>T (p.Asn1380Ile)
n.9319A>T
n.2784A>T
c.5036-4796A>T (n.5036-4796A>T)
c.5063A>T (p.Asn1688Ile)
c.5111A>T (p.Asn1704Ile)
c.4085A>T (p.Asn1362Ile)
c.3666A>T
c.3227A>T (p.Asn1076Ile)
c.*1044A>T (n.*1044A>T)
c.4380A>T
c.3956A>T (p.Asn1319Ile)
c.5153A>T (p.Asn1718Ile)
c.5150A>T (p.Asn1717Ile)
c.5105A>T (p.Asn1702Ile)
c.4229A>T (p.Asn1410Ile)
c.3998A>T (p.Asn1333Ile)
10g.94293584T>ACA377640738PLCE1c.4188T>A (p.Asn1396Lys)
c.*1655T>A (n.*1655T>A)
n.1847T>A
n.531T>A
c.*396T>A (n.*396T>A)
c.4140T>A (p.Asn1380Lys)
n.9320T>A
n.2785T>A
c.5036-4795T>A (n.5036-4795T>A)
c.5064T>A (p.Asn1688Lys)
c.5112T>A (p.Asn1704Lys)
c.4086T>A (p.Asn1362Lys)
c.3667T>A
c.3228T>A (p.Asn1076Lys)
c.*1045T>A (n.*1045T>A)
c.4381T>A
c.3957T>A (p.Asn1319Lys)
c.5154T>A (p.Asn1718Lys)
c.5151T>A (p.Asn1717Lys)
c.5106T>A (p.Asn1702Lys)
c.4230T>A (p.Asn1410Lys)
c.3999T>A (p.Asn1333Lys)
10g.94293584T>CCA470807560PLCE1c.4188T>C (p.Asn1396=)
c.*1655T>C (n.*1655T>C)
n.1847T>C
n.531T>C
c.*396T>C (n.*396T>C)
c.4140T>C (p.Asn1380=)
n.9320T>C
n.2785T>C
c.5036-4795T>C (n.5036-4795T>C)
c.5064T>C (p.Asn1688=)
c.5112T>C (p.Asn1704=)
c.4086T>C (p.Asn1362=)
c.3667T>C
c.3228T>C (p.Asn1076=)
c.*1045T>C (n.*1045T>C)
c.4381T>C
c.3957T>C (p.Asn1319=)
c.5154T>C (p.Asn1718=)
c.5151T>C (p.Asn1717=)
c.5106T>C (p.Asn1702=)
c.4230T>C (p.Asn1410=)
c.3999T>C (p.Asn1333=)
dbSNP gnomAD v2 gnomAD v4
10g.94293584T>GCA377640740PLCE1c.4188T>G (p.Asn1396Lys)
c.*1655T>G (n.*1655T>G)
n.1847T>G
n.531T>G
c.*396T>G (n.*396T>G)
c.4140T>G (p.Asn1380Lys)
n.9320T>G
n.2785T>G
c.5036-4795T>G (n.5036-4795T>G)
c.5064T>G (p.Asn1688Lys)
c.5112T>G (p.Asn1704Lys)
c.4086T>G (p.Asn1362Lys)
c.3667T>G
c.3228T>G (p.Asn1076Lys)
c.*1045T>G (n.*1045T>G)
c.4381T>G
c.3957T>G (p.Asn1319Lys)
c.5154T>G (p.Asn1718Lys)
c.5151T>G (p.Asn1717Lys)
c.5106T>G (p.Asn1702Lys)
c.4230T>G (p.Asn1410Lys)
c.3999T>G (p.Asn1333Lys)
gnomAD v4
10g.94293584T=CA1928996195PLCE1c.4188T= (p.Asn1396=)
c.*1655T= (n.*1655T=)
n.1847T=
n.531T=
c.*396T= (n.*396T=)
c.4140T= (p.Asn1380=)
n.9320T=
n.2785T=
c.5036-4795T= (n.5036-4795T=)
c.5064T= (p.Asn1688=)
c.5112T= (p.Asn1704=)
c.4086T= (p.Asn1362=)
c.3667T=
c.3228T= (p.Asn1076=)
c.*1045T= (n.*1045T=)
c.4381T=
c.3957T= (p.Asn1319=)
c.5154T= (p.Asn1718=)
c.5151T= (p.Asn1717=)
c.5106T= (p.Asn1702=)
c.4230T= (p.Asn1410=)
c.3999T= (p.Asn1333=)
10g.94293585C>ACA377640742PLCE1c.4189C>A (p.Pro1397Thr)
c.*1656C>A (n.*1656C>A)
n.1848C>A
n.532C>A
c.*397C>A (n.*397C>A)
c.4141C>A (p.Pro1381Thr)
n.9321C>A
n.2786C>A
c.5036-4794C>A (n.5036-4794C>A)
c.5065C>A (p.Pro1689Thr)
c.5113C>A (p.Pro1705Thr)
c.4087C>A (p.Pro1363Thr)
c.3668C>A
c.3229C>A (p.Pro1077Thr)
c.*1046C>A (n.*1046C>A)
c.4382C>A
c.3958C>A (p.Pro1320Thr)
c.5155C>A (p.Pro1719Thr)
c.5152C>A (p.Pro1718Thr)
c.5107C>A (p.Pro1703Thr)
c.4231C>A (p.Pro1411Thr)
c.4000C>A (p.Pro1334Thr)
10g.94293585C=CA1928996196PLCE1c.4189C= (p.Pro1397=)
c.*1656C= (n.*1656C=)
n.1848C=
n.532C=
c.*397C= (n.*397C=)
c.4141C= (p.Pro1381=)
n.9321C=
n.2786C=
c.5036-4794C= (n.5036-4794C=)
c.5065C= (p.Pro1689=)
c.5113C= (p.Pro1705=)
c.4087C= (p.Pro1363=)
c.3668C=
c.3229C= (p.Pro1077=)
c.*1046C= (n.*1046C=)
c.4382C=
c.3958C= (p.Pro1320=)
c.5155C= (p.Pro1719=)
c.5152C= (p.Pro1718=)
c.5107C= (p.Pro1703=)
c.4231C= (p.Pro1411=)
c.4000C= (p.Pro1334=)
10g.94293585C>GCA377640744PLCE1c.4189C>G (p.Pro1397Ala)
c.*1656C>G (n.*1656C>G)
n.1848C>G
n.532C>G
c.*397C>G (n.*397C>G)
c.4141C>G (p.Pro1381Ala)
n.9321C>G
n.2786C>G
c.5036-4794C>G (n.5036-4794C>G)
c.5065C>G (p.Pro1689Ala)
c.5113C>G (p.Pro1705Ala)
c.4087C>G (p.Pro1363Ala)
c.3668C>G
c.3229C>G (p.Pro1077Ala)
c.*1046C>G (n.*1046C>G)
c.4382C>G
c.3958C>G (p.Pro1320Ala)
c.5155C>G (p.Pro1719Ala)
c.5152C>G (p.Pro1718Ala)
c.5107C>G (p.Pro1703Ala)
c.4231C>G (p.Pro1411Ala)
c.4000C>G (p.Pro1334Ala)
dbSNP gnomAD v2 gnomAD v4
10g.94293585C>TCA377640746PLCE1c.4189C>T (p.Pro1397Ser)
c.*1656C>T (n.*1656C>T)
n.1848C>T
n.532C>T
c.*397C>T (n.*397C>T)
c.4141C>T (p.Pro1381Ser)
n.9321C>T
n.2786C>T
c.5036-4794C>T (n.5036-4794C>T)
c.5065C>T (p.Pro1689Ser)
c.5113C>T (p.Pro1705Ser)
c.4087C>T (p.Pro1363Ser)
c.3668C>T
c.3229C>T (p.Pro1077Ser)
c.*1046C>T (n.*1046C>T)
c.4382C>T
c.3958C>T (p.Pro1320Ser)
c.5155C>T (p.Pro1719Ser)
c.5152C>T (p.Pro1718Ser)
c.5107C>T (p.Pro1703Ser)
c.4231C>T (p.Pro1411Ser)
c.4000C>T (p.Pro1334Ser)
10g.94293586C>ACA377640750PLCE1c.4190C>A (p.Pro1397Gln)
c.*1657C>A (n.*1657C>A)
n.1849C>A
n.533C>A
c.*398C>A (n.*398C>A)
c.4142C>A (p.Pro1381Gln)
n.9322C>A
n.2787C>A
c.5036-4793C>A (n.5036-4793C>A)
c.5066C>A (p.Pro1689Gln)
c.5114C>A (p.Pro1705Gln)
c.4088C>A (p.Pro1363Gln)
c.3669C>A
c.3230C>A (p.Pro1077Gln)
c.*1047C>A (n.*1047C>A)
c.4383C>A
c.3959C>A (p.Pro1320Gln)
c.5156C>A (p.Pro1719Gln)
c.5153C>A (p.Pro1718Gln)
c.5108C>A (p.Pro1703Gln)
c.4232C>A (p.Pro1411Gln)
c.4001C>A (p.Pro1334Gln)
dbSNP gnomAD v3 gnomAD v4
10g.94293586C=CA1928996197PLCE1c.4190C= (p.Pro1397=)
c.*1657C= (n.*1657C=)
n.1849C=
n.533C=
c.*398C= (n.*398C=)
c.4142C= (p.Pro1381=)
n.9322C=
n.2787C=
c.5036-4793C= (n.5036-4793C=)
c.5066C= (p.Pro1689=)
c.5114C= (p.Pro1705=)
c.4088C= (p.Pro1363=)
c.3669C=
c.3230C= (p.Pro1077=)
c.*1047C= (n.*1047C=)
c.4383C=
c.3959C= (p.Pro1320=)
c.5156C= (p.Pro1719=)
c.5153C= (p.Pro1718=)
c.5108C= (p.Pro1703=)
c.4232C= (p.Pro1411=)
c.4001C= (p.Pro1334=)
10g.94293586C>GCA377640748PLCE1c.4190C>G (p.Pro1397Arg)
c.*1657C>G (n.*1657C>G)
n.1849C>G
n.533C>G
c.*398C>G (n.*398C>G)
c.4142C>G (p.Pro1381Arg)
n.9322C>G
n.2787C>G
c.5036-4793C>G (n.5036-4793C>G)
c.5066C>G (p.Pro1689Arg)
c.5114C>G (p.Pro1705Arg)
c.4088C>G (p.Pro1363Arg)
c.3669C>G
c.3230C>G (p.Pro1077Arg)
c.*1047C>G (n.*1047C>G)
c.4383C>G
c.3959C>G (p.Pro1320Arg)
c.5156C>G (p.Pro1719Arg)
c.5153C>G (p.Pro1718Arg)
c.5108C>G (p.Pro1703Arg)
c.4232C>G (p.Pro1411Arg)
c.4001C>G (p.Pro1334Arg)
10g.94293586C>TCA5613288PLCE1c.4190C>T (p.Pro1397Leu)
c.*1657C>T (n.*1657C>T)
n.1849C>T
n.533C>T
c.*398C>T (n.*398C>T)
c.4142C>T (p.Pro1381Leu)
n.9322C>T
n.2787C>T
c.5036-4793C>T (n.5036-4793C>T)
c.5066C>T (p.Pro1689Leu)
c.5114C>T (p.Pro1705Leu)
c.4088C>T (p.Pro1363Leu)
c.3669C>T
c.3230C>T (p.Pro1077Leu)
c.*1047C>T (n.*1047C>T)
c.4383C>T
c.3959C>T (p.Pro1320Leu)
c.5156C>T (p.Pro1719Leu)
c.5153C>T (p.Pro1718Leu)
c.5108C>T (p.Pro1703Leu)
c.4232C>T (p.Pro1411Leu)
c.4001C>T (p.Pro1334Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94293587G>ACA5613289PLCE1c.4191G>A (p.Pro1397=)
c.*1658G>A (n.*1658G>A)
n.1850G>A
n.534G>A
c.*399G>A (n.*399G>A)
c.4143G>A (p.Pro1381=)
n.9323G>A
n.2788G>A
c.5036-4792G>A (n.5036-4792G>A)
c.5067G>A (p.Pro1689=)
c.5115G>A (p.Pro1705=)
c.4089G>A (p.Pro1363=)
c.3670G>A
c.3231G>A (p.Pro1077=)
c.*1048G>A (n.*1048G>A)
c.4384G>A
c.3960G>A (p.Pro1320=)
c.5157G>A (p.Pro1719=)
c.5154G>A (p.Pro1718=)
c.5109G>A (p.Pro1703=)
c.4233G>A (p.Pro1411=)
c.4002G>A (p.Pro1334=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
10g.94293587G>CCA470807570PLCE1c.4191G>C (p.Pro1397=)
c.*1658G>C (n.*1658G>C)
n.1850G>C
n.534G>C
c.*399G>C (n.*399G>C)
c.4143G>C (p.Pro1381=)
n.9323G>C
n.2788G>C
c.5036-4792G>C (n.5036-4792G>C)
c.5067G>C (p.Pro1689=)
c.5115G>C (p.Pro1705=)
c.4089G>C (p.Pro1363=)
c.3670G>C
c.3231G>C (p.Pro1077=)
c.*1048G>C (n.*1048G>C)
c.4384G>C
c.3960G>C (p.Pro1320=)
c.5157G>C (p.Pro1719=)
c.5154G>C (p.Pro1718=)
c.5109G>C (p.Pro1703=)
c.4233G>C (p.Pro1411=)
c.4002G>C (p.Pro1334=)
10g.94293587G=CA1928996198PLCE1c.4191G= (p.Pro1397=)
c.*1658G= (n.*1658G=)
n.1850G=
n.534G=
c.*399G= (n.*399G=)
c.4143G= (p.Pro1381=)
n.9323G=
n.2788G=
c.5036-4792G= (n.5036-4792G=)
c.5067G= (p.Pro1689=)
c.5115G= (p.Pro1705=)
c.4089G= (p.Pro1363=)
c.3670G=
c.3231G= (p.Pro1077=)
c.*1048G= (n.*1048G=)
c.4384G=
c.3960G= (p.Pro1320=)
c.5157G= (p.Pro1719=)
c.5154G= (p.Pro1718=)
c.5109G= (p.Pro1703=)
c.4233G= (p.Pro1411=)
c.4002G= (p.Pro1334=)
10g.94293587G>TCA470807568PLCE1c.4191G>T (p.Pro1397=)
c.*1658G>T (n.*1658G>T)
n.1850G>T
n.534G>T
c.*399G>T (n.*399G>T)
c.4143G>T (p.Pro1381=)
n.9323G>T
n.2788G>T
c.5036-4792G>T (n.5036-4792G>T)
c.5067G>T (p.Pro1689=)
c.5115G>T (p.Pro1705=)
c.4089G>T (p.Pro1363=)
c.3670G>T
c.3231G>T (p.Pro1077=)
c.*1048G>T (n.*1048G>T)
c.4384G>T
c.3960G>T (p.Pro1320=)
c.5157G>T (p.Pro1719=)
c.5154G>T (p.Pro1718=)
c.5109G>T (p.Pro1703=)
c.4233G>T (p.Pro1411=)
c.4002G>T (p.Pro1334=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.94293588G>ACA377640754PLCE1c.4192G>A (p.Gly1398Ser)
c.*1659G>A (n.*1659G>A)
n.1851G>A
n.535G>A
c.*400G>A (n.*400G>A)
c.4144G>A (p.Gly1382Ser)
n.9324G>A
n.2789G>A
c.5036-4791G>A (n.5036-4791G>A)
c.5068G>A (p.Gly1690Ser)
c.5116G>A (p.Gly1706Ser)
c.4090G>A (p.Gly1364Ser)
c.3671G>A
c.3232G>A (p.Gly1078Ser)
c.*1049G>A (n.*1049G>A)
c.4385G>A
c.3961G>A (p.Gly1321Ser)
c.5158G>A (p.Gly1720Ser)
c.5155G>A (p.Gly1719Ser)
c.5110G>A (p.Gly1704Ser)
c.4234G>A (p.Gly1412Ser)
c.4003G>A (p.Gly1335Ser)
10g.94293588G>CCA377640756PLCE1c.4192G>C (p.Gly1398Arg)
c.*1659G>C (n.*1659G>C)
n.1851G>C
n.535G>C
c.*400G>C (n.*400G>C)
c.4144G>C (p.Gly1382Arg)
n.9324G>C
n.2789G>C
c.5036-4791G>C (n.5036-4791G>C)
c.5068G>C (p.Gly1690Arg)
c.5116G>C (p.Gly1706Arg)
c.4090G>C (p.Gly1364Arg)
c.3671G>C
c.3232G>C (p.Gly1078Arg)
c.*1049G>C (n.*1049G>C)
c.4385G>C
c.3961G>C (p.Gly1321Arg)
c.5158G>C (p.Gly1720Arg)
c.5155G>C (p.Gly1719Arg)
c.5110G>C (p.Gly1704Arg)
c.4234G>C (p.Gly1412Arg)
c.4003G>C (p.Gly1335Arg)
10g.94293588G>TCA377640757PLCE1c.4192G>T (p.Gly1398Cys)
c.*1659G>T (n.*1659G>T)
n.1851G>T
n.535G>T
c.*400G>T (n.*400G>T)
c.4144G>T (p.Gly1382Cys)
n.9324G>T
n.2789G>T
c.5036-4791G>T (n.5036-4791G>T)
c.5068G>T (p.Gly1690Cys)
c.5116G>T (p.Gly1706Cys)
c.4090G>T (p.Gly1364Cys)
c.3671G>T
c.3232G>T (p.Gly1078Cys)
c.*1049G>T (n.*1049G>T)
c.4385G>T
c.3961G>T (p.Gly1321Cys)
c.5158G>T (p.Gly1720Cys)
c.5155G>T (p.Gly1719Cys)
c.5110G>T (p.Gly1704Cys)
c.4234G>T (p.Gly1412Cys)
c.4003G>T (p.Gly1335Cys)
10g.94293589G>ACA377640760PLCE1c.4193G>A (p.Gly1398Asp)
c.*1660G>A (n.*1660G>A)
n.1852G>A
n.536G>A
c.*401G>A (n.*401G>A)
c.4145G>A (p.Gly1382Asp)
n.9325G>A
n.2790G>A
c.5036-4790G>A (n.5036-4790G>A)
c.5069G>A (p.Gly1690Asp)
c.5117G>A (p.Gly1706Asp)
c.4091G>A (p.Gly1364Asp)
c.3672G>A
c.3233G>A (p.Gly1078Asp)
c.*1050G>A (n.*1050G>A)
c.4386G>A
c.3962G>A (p.Gly1321Asp)
c.5159G>A (p.Gly1720Asp)
c.5156G>A (p.Gly1719Asp)
c.5111G>A (p.Gly1704Asp)
c.4235G>A (p.Gly1412Asp)
c.4004G>A (p.Gly1335Asp)
10g.94293589G>CCA377640762PLCE1c.4193G>C (p.Gly1398Ala)
c.*1660G>C (n.*1660G>C)
n.1852G>C
n.536G>C
c.*401G>C (n.*401G>C)
c.4145G>C (p.Gly1382Ala)
n.9325G>C
n.2790G>C
c.5036-4790G>C (n.5036-4790G>C)
c.5069G>C (p.Gly1690Ala)
c.5117G>C (p.Gly1706Ala)
c.4091G>C (p.Gly1364Ala)
c.3672G>C
c.3233G>C (p.Gly1078Ala)
c.*1050G>C (n.*1050G>C)
c.4386G>C
c.3962G>C (p.Gly1321Ala)
c.5159G>C (p.Gly1720Ala)
c.5156G>C (p.Gly1719Ala)
c.5111G>C (p.Gly1704Ala)
c.4235G>C (p.Gly1412Ala)
c.4004G>C (p.Gly1335Ala)
10g.94293589G>TCA377640763PLCE1c.4193G>T (p.Gly1398Val)
c.*1660G>T (n.*1660G>T)
n.1852G>T
n.536G>T
c.*401G>T (n.*401G>T)
c.4145G>T (p.Gly1382Val)
n.9325G>T
n.2790G>T
c.5036-4790G>T (n.5036-4790G>T)
c.5069G>T (p.Gly1690Val)
c.5117G>T (p.Gly1706Val)
c.4091G>T (p.Gly1364Val)
c.3672G>T
c.3233G>T (p.Gly1078Val)
c.*1050G>T (n.*1050G>T)
c.4386G>T
c.3962G>T (p.Gly1321Val)
c.5159G>T (p.Gly1720Val)
c.5156G>T (p.Gly1719Val)
c.5111G>T (p.Gly1704Val)
c.4235G>T (p.Gly1412Val)
c.4004G>T (p.Gly1335Val)
10g.94293590C>ACA470807580PLCE1c.4194C>A (p.Gly1398=)
c.*1661C>A (n.*1661C>A)
n.1853C>A
n.537C>A
c.*402C>A (n.*402C>A)
c.4146C>A (p.Gly1382=)
n.9326C>A
n.2791C>A
c.5036-4789C>A (n.5036-4789C>A)
c.5070C>A (p.Gly1690=)
c.5118C>A (p.Gly1706=)
c.4092C>A (p.Gly1364=)
c.3673C>A
c.3234C>A (p.Gly1078=)
c.*1051C>A (n.*1051C>A)
c.4387C>A
c.3963C>A (p.Gly1321=)
c.5160C>A (p.Gly1720=)
c.5157C>A (p.Gly1719=)
c.5112C>A (p.Gly1704=)
c.4236C>A (p.Gly1412=)
c.4005C>A (p.Gly1335=)
dbSNP
10g.94293590C=CA1928996199PLCE1c.4194C= (p.Gly1398=)
c.*1661C= (n.*1661C=)
n.1853C=
n.537C=
c.*402C= (n.*402C=)
c.4146C= (p.Gly1382=)
n.9326C=
n.2791C=
c.5036-4789C= (n.5036-4789C=)
c.5070C= (p.Gly1690=)
c.5118C= (p.Gly1706=)
c.4092C= (p.Gly1364=)
c.3673C=
c.3234C= (p.Gly1078=)
c.*1051C= (n.*1051C=)
c.4387C=
c.3963C= (p.Gly1321=)
c.5160C= (p.Gly1720=)
c.5157C= (p.Gly1719=)
c.5112C= (p.Gly1704=)
c.4236C= (p.Gly1412=)
c.4005C= (p.Gly1335=)
10g.94293590C>GCA470807584PLCE1c.4194C>G (p.Gly1398=)
c.*1661C>G (n.*1661C>G)
n.1853C>G
n.537C>G
c.*402C>G (n.*402C>G)
c.4146C>G (p.Gly1382=)
n.9326C>G
n.2791C>G
c.5036-4789C>G (n.5036-4789C>G)
c.5070C>G (p.Gly1690=)
c.5118C>G (p.Gly1706=)
c.4092C>G (p.Gly1364=)
c.3673C>G
c.3234C>G (p.Gly1078=)
c.*1051C>G (n.*1051C>G)
c.4387C>G
c.3963C>G (p.Gly1321=)
c.5160C>G (p.Gly1720=)
c.5157C>G (p.Gly1719=)
c.5112C>G (p.Gly1704=)
c.4236C>G (p.Gly1412=)
c.4005C>G (p.Gly1335=)
10g.94293590C>TCA470807582PLCE1c.4194C>T (p.Gly1398=)
c.*1661C>T (n.*1661C>T)
n.1853C>T
n.537C>T
c.*402C>T (n.*402C>T)
c.4146C>T (p.Gly1382=)
n.9326C>T
n.2791C>T
c.5036-4789C>T (n.5036-4789C>T)
c.5070C>T (p.Gly1690=)
c.5118C>T (p.Gly1706=)
c.4092C>T (p.Gly1364=)
c.3673C>T
c.3234C>T (p.Gly1078=)
c.*1051C>T (n.*1051C>T)
c.4387C>T
c.3963C>T (p.Gly1321=)
c.5160C>T (p.Gly1720=)
c.5157C>T (p.Gly1719=)
c.5112C>T (p.Gly1704=)
c.4236C>T (p.Gly1412=)
c.4005C>T (p.Gly1335=)
dbSNP gnomAD v3 gnomAD v4
10g.94293591A=CA1928996200PLCE1c.4195A= (p.Arg1399=)
c.*1662A= (n.*1662A=)
n.1854A=
n.538A=
c.*403A= (n.*403A=)
c.4147A= (p.Arg1383=)
n.9327A=
n.2792A=
c.5036-4788A= (n.5036-4788A=)
c.5071A= (p.Arg1691=)
c.5119A= (p.Arg1707=)
c.4093A= (p.Arg1365=)
c.3674A=
c.3235A= (p.Arg1079=)
c.*1052A= (n.*1052A=)
c.4388A=
c.3964A= (p.Arg1322=)
c.5161A= (p.Arg1721=)
c.5158A= (p.Arg1720=)
c.5113A= (p.Arg1705=)
c.4237A= (p.Arg1413=)
c.4006A= (p.Arg1336=)
10g.94293591A>CCA470807587PLCE1c.4195A>C (p.Arg1399=)
c.*1662A>C (n.*1662A>C)
n.1854A>C
n.538A>C
c.*403A>C (n.*403A>C)
c.4147A>C (p.Arg1383=)
n.9327A>C
n.2792A>C
c.5036-4788A>C (n.5036-4788A>C)
c.5071A>C (p.Arg1691=)
c.5119A>C (p.Arg1707=)
c.4093A>C (p.Arg1365=)
c.3674A>C
c.3235A>C (p.Arg1079=)
c.*1052A>C (n.*1052A>C)
c.4388A>C
c.3964A>C (p.Arg1322=)
c.5161A>C (p.Arg1721=)
c.5158A>C (p.Arg1720=)
c.5113A>C (p.Arg1705=)
c.4237A>C (p.Arg1413=)
c.4006A>C (p.Arg1336=)
10g.94293591A>GCA5613290PLCE1c.4195A>G (p.Arg1399Gly)
c.*1662A>G (n.*1662A>G)
n.1854A>G
n.538A>G
c.*403A>G (n.*403A>G)
c.4147A>G (p.Arg1383Gly)
n.9327A>G
n.2792A>G
c.5036-4788A>G (n.5036-4788A>G)
c.5071A>G (p.Arg1691Gly)
c.5119A>G (p.Arg1707Gly)
c.4093A>G (p.Arg1365Gly)
c.3674A>G
c.3235A>G (p.Arg1079Gly)
c.*1052A>G (n.*1052A>G)
c.4388A>G
c.3964A>G (p.Arg1322Gly)
c.5161A>G (p.Arg1721Gly)
c.5158A>G (p.Arg1720Gly)
c.5113A>G (p.Arg1705Gly)
c.4237A>G (p.Arg1413Gly)
c.4006A>G (p.Arg1336Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.94293591A>TCA377640765PLCE1c.4195A>T (p.Arg1399Ter)
c.*1662A>T (n.*1662A>T)
n.1854A>T
n.538A>T
c.*403A>T (n.*403A>T)
c.4147A>T (p.Arg1383Ter)
n.9327A>T
n.2792A>T
c.5036-4788A>T (n.5036-4788A>T)
c.5071A>T (p.Arg1691Ter)
c.5119A>T (p.Arg1707Ter)
c.4093A>T (p.Arg1365Ter)
c.3674A>T
c.3235A>T (p.Arg1079Ter)
c.*1052A>T (n.*1052A>T)
c.4388A>T
c.3964A>T (p.Arg1322Ter)
c.5161A>T (p.Arg1721Ter)
c.5158A>T (p.Arg1720Ter)
c.5113A>T (p.Arg1705Ter)
c.4237A>T (p.Arg1413Ter)
c.4006A>T (p.Arg1336Ter)
10g.94293592G>ACA5613291PLCE1c.4196G>A (p.Arg1399Lys)
c.*1663G>A (n.*1663G>A)
n.1855G>A
n.539G>A
c.*404G>A (n.*404G>A)
c.4148G>A (p.Arg1383Lys)
n.9328G>A
n.2793G>A
c.5036-4787G>A (n.5036-4787G>A)
c.5072G>A (p.Arg1691Lys)
c.5120G>A (p.Arg1707Lys)
c.4094G>A (p.Arg1365Lys)
c.3675G>A
c.3236G>A (p.Arg1079Lys)
c.*1053G>A (n.*1053G>A)
c.4389G>A
c.3965G>A (p.Arg1322Lys)
c.5162G>A (p.Arg1721Lys)
c.5159G>A (p.Arg1720Lys)
c.5114G>A (p.Arg1705Lys)
c.4238G>A (p.Arg1413Lys)
c.4007G>A (p.Arg1336Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94293592G>CCA377640768PLCE1c.4196G>C (p.Arg1399Thr)
c.*1663G>C (n.*1663G>C)
n.1855G>C
n.539G>C
c.*404G>C (n.*404G>C)
c.4148G>C (p.Arg1383Thr)
n.9328G>C
n.2793G>C
c.5036-4787G>C (n.5036-4787G>C)
c.5072G>C (p.Arg1691Thr)
c.5120G>C (p.Arg1707Thr)
c.4094G>C (p.Arg1365Thr)
c.3675G>C
c.3236G>C (p.Arg1079Thr)
c.*1053G>C (n.*1053G>C)
c.4389G>C
c.3965G>C (p.Arg1322Thr)
c.5162G>C (p.Arg1721Thr)
c.5159G>C (p.Arg1720Thr)
c.5114G>C (p.Arg1705Thr)
c.4238G>C (p.Arg1413Thr)
c.4007G>C (p.Arg1336Thr)
10g.94293592G=CA1928996201PLCE1c.4196G= (p.Arg1399=)
c.*1663G= (n.*1663G=)
n.1855G=
n.539G=
c.*404G= (n.*404G=)
c.4148G= (p.Arg1383=)
n.9328G=
n.2793G=
c.5036-4787G= (n.5036-4787G=)
c.5072G= (p.Arg1691=)
c.5120G= (p.Arg1707=)
c.4094G= (p.Arg1365=)
c.3675G=
c.3236G= (p.Arg1079=)
c.*1053G= (n.*1053G=)
c.4389G=
c.3965G= (p.Arg1322=)
c.5162G= (p.Arg1721=)
c.5159G= (p.Arg1720=)
c.5114G= (p.Arg1705=)
c.4238G= (p.Arg1413=)
c.4007G= (p.Arg1336=)
10g.94293592G>TCA377640770PLCE1c.4196G>T (p.Arg1399Ile)
c.*1663G>T (n.*1663G>T)
n.1855G>T
n.539G>T
c.*404G>T (n.*404G>T)
c.4148G>T (p.Arg1383Ile)
n.9328G>T
n.2793G>T
c.5036-4787G>T (n.5036-4787G>T)
c.5072G>T (p.Arg1691Ile)
c.5120G>T (p.Arg1707Ile)
c.4094G>T (p.Arg1365Ile)
c.3675G>T
c.3236G>T (p.Arg1079Ile)
c.*1053G>T (n.*1053G>T)
c.4389G>T
c.3965G>T (p.Arg1322Ile)
c.5162G>T (p.Arg1721Ile)
c.5159G>T (p.Arg1720Ile)
c.5114G>T (p.Arg1705Ile)
c.4238G>T (p.Arg1413Ile)
c.4007G>T (p.Arg1336Ile)
10g.94293593A>CCA377640781PLCE1c.4197A>C (p.Arg1399Ser)
c.*1664A>C (n.*1664A>C)
n.1856A>C
n.540A>C
c.*405A>C (n.*405A>C)
c.4149A>C (p.Arg1383Ser)
n.9329A>C
n.2794A>C
c.5036-4786A>C (n.5036-4786A>C)
c.5073A>C (p.Arg1691Ser)
c.5121A>C (p.Arg1707Ser)
c.4095A>C (p.Arg1365Ser)
c.3676A>C
c.3237A>C (p.Arg1079Ser)
c.*1054A>C (n.*1054A>C)
c.4390A>C
c.3966A>C (p.Arg1322Ser)
c.5163A>C (p.Arg1721Ser)
c.5160A>C (p.Arg1720Ser)
c.5115A>C (p.Arg1705Ser)
c.4239A>C (p.Arg1413Ser)
c.4008A>C (p.Arg1336Ser)
10g.94293593A>GCA470807616PLCE1c.4197A>G (p.Arg1399=)
c.*1664A>G (n.*1664A>G)
n.1856A>G
n.540A>G
c.*405A>G (n.*405A>G)
c.4149A>G (p.Arg1383=)
n.9329A>G
n.2794A>G
c.5036-4786A>G (n.5036-4786A>G)
c.5073A>G (p.Arg1691=)
c.5121A>G (p.Arg1707=)
c.4095A>G (p.Arg1365=)
c.3676A>G
c.3237A>G (p.Arg1079=)
c.*1054A>G (n.*1054A>G)
c.4390A>G
c.3966A>G (p.Arg1322=)
c.5163A>G (p.Arg1721=)
c.5160A>G (p.Arg1720=)
c.5115A>G (p.Arg1705=)
c.4239A>G (p.Arg1413=)
c.4008A>G (p.Arg1336=)
10g.94293593A>TCA377640779PLCE1c.4197A>T (p.Arg1399Ser)
c.*1664A>T (n.*1664A>T)
n.1856A>T
n.540A>T
c.*405A>T (n.*405A>T)
c.4149A>T (p.Arg1383Ser)
n.9329A>T
n.2794A>T
c.5036-4786A>T (n.5036-4786A>T)
c.5073A>T (p.Arg1691Ser)
c.5121A>T (p.Arg1707Ser)
c.4095A>T (p.Arg1365Ser)
c.3676A>T
c.3237A>T (p.Arg1079Ser)
c.*1054A>T (n.*1054A>T)
c.4390A>T
c.3966A>T (p.Arg1322Ser)
c.5163A>T (p.Arg1721Ser)
c.5160A>T (p.Arg1720Ser)
c.5115A>T (p.Arg1705Ser)
c.4239A>T (p.Arg1413Ser)
c.4008A>T (p.Arg1336Ser)
10g.94293594A>CCA377640783PLCE1c.4198A>C (p.Met1400Leu)
c.*1665A>C (n.*1665A>C)
n.1857A>C
n.541A>C
c.*406A>C (n.*406A>C)
c.4150A>C (p.Met1384Leu)
n.9330A>C
n.2795A>C
c.5036-4785A>C (n.5036-4785A>C)
c.5074A>C (p.Met1692Leu)
c.5122A>C (p.Met1708Leu)
c.4096A>C (p.Met1366Leu)
c.3677A>C
c.3238A>C (p.Met1080Leu)
c.*1055A>C (n.*1055A>C)
c.4391A>C
c.3967A>C (p.Met1323Leu)
c.5164A>C (p.Met1722Leu)
c.5161A>C (p.Met1721Leu)
c.5116A>C (p.Met1706Leu)
c.4240A>C (p.Met1414Leu)
c.4009A>C (p.Met1337Leu)
10g.94293594A>GCA377640785PLCE1c.4198A>G (p.Met1400Val)
c.*1665A>G (n.*1665A>G)
n.1857A>G
n.541A>G
c.*406A>G (n.*406A>G)
c.4150A>G (p.Met1384Val)
n.9330A>G
n.2795A>G
c.5036-4785A>G (n.5036-4785A>G)
c.5074A>G (p.Met1692Val)
c.5122A>G (p.Met1708Val)
c.4096A>G (p.Met1366Val)
c.3677A>G
c.3238A>G (p.Met1080Val)
c.*1055A>G (n.*1055A>G)
c.4391A>G
c.3967A>G (p.Met1323Val)
c.5164A>G (p.Met1722Val)
c.5161A>G (p.Met1721Val)
c.5116A>G (p.Met1706Val)
c.4240A>G (p.Met1414Val)
c.4009A>G (p.Met1337Val)
10g.94293594A>TCA377640787PLCE1c.4198A>T (p.Met1400Leu)
c.*1665A>T (n.*1665A>T)
n.1857A>T
n.541A>T
c.*406A>T (n.*406A>T)
c.4150A>T (p.Met1384Leu)
n.9330A>T
n.2795A>T
c.5036-4785A>T (n.5036-4785A>T)
c.5074A>T (p.Met1692Leu)
c.5122A>T (p.Met1708Leu)
c.4096A>T (p.Met1366Leu)
c.3677A>T
c.3238A>T (p.Met1080Leu)
c.*1055A>T (n.*1055A>T)
c.4391A>T
c.3967A>T (p.Met1323Leu)
c.5164A>T (p.Met1722Leu)
c.5161A>T (p.Met1721Leu)
c.5116A>T (p.Met1706Leu)
c.4240A>T (p.Met1414Leu)
c.4009A>T (p.Met1337Leu)
gnomAD v4
10g.94293595T>ACA377640789PLCE1c.4199T>A (p.Met1400Lys)
c.*1666T>A (n.*1666T>A)
n.1858T>A
n.542T>A
c.*407T>A (n.*407T>A)
c.4151T>A (p.Met1384Lys)
n.9331T>A
n.2796T>A
c.5036-4784T>A (n.5036-4784T>A)
c.5075T>A (p.Met1692Lys)
c.5123T>A (p.Met1708Lys)
c.4097T>A (p.Met1366Lys)
c.3678T>A
c.3239T>A (p.Met1080Lys)
c.*1056T>A (n.*1056T>A)
c.4392T>A
c.3968T>A (p.Met1323Lys)
c.5165T>A (p.Met1722Lys)
c.5162T>A (p.Met1721Lys)
c.5117T>A (p.Met1706Lys)
c.4241T>A (p.Met1414Lys)
c.4010T>A (p.Met1337Lys)
10g.94293595T>CCA377640791PLCE1c.4199T>C (p.Met1400Thr)
c.*1666T>C (n.*1666T>C)
n.1858T>C
n.542T>C
c.*407T>C (n.*407T>C)
c.4151T>C (p.Met1384Thr)
n.9331T>C
n.2796T>C
c.5036-4784T>C (n.5036-4784T>C)
c.5075T>C (p.Met1692Thr)
c.5123T>C (p.Met1708Thr)
c.4097T>C (p.Met1366Thr)
c.3678T>C
c.3239T>C (p.Met1080Thr)
c.*1056T>C (n.*1056T>C)
c.4392T>C
c.3968T>C (p.Met1323Thr)
c.5165T>C (p.Met1722Thr)
c.5162T>C (p.Met1721Thr)
c.5117T>C (p.Met1706Thr)
c.4241T>C (p.Met1414Thr)
c.4010T>C (p.Met1337Thr)
10g.94293595T>GCA377640793PLCE1c.4199T>G (p.Met1400Arg)
c.*1666T>G (n.*1666T>G)
n.1858T>G
n.542T>G
c.*407T>G (n.*407T>G)
c.4151T>G (p.Met1384Arg)
n.9331T>G
n.2796T>G
c.5036-4784T>G (n.5036-4784T>G)
c.5075T>G (p.Met1692Arg)
c.5123T>G (p.Met1708Arg)
c.4097T>G (p.Met1366Arg)
c.3678T>G
c.3239T>G (p.Met1080Arg)
c.*1056T>G (n.*1056T>G)
c.4392T>G
c.3968T>G (p.Met1323Arg)
c.5165T>G (p.Met1722Arg)
c.5162T>G (p.Met1721Arg)
c.5117T>G (p.Met1706Arg)
c.4241T>G (p.Met1414Arg)
c.4010T>G (p.Met1337Arg)
dbSNP
10g.94293595T=CA1928996202PLCE1c.4199T= (p.Met1400=)
c.*1666T= (n.*1666T=)
n.1858T=
n.542T=
c.*407T= (n.*407T=)
c.4151T= (p.Met1384=)
n.9331T=
n.2796T=
c.5036-4784T= (n.5036-4784T=)
c.5075T= (p.Met1692=)
c.5123T= (p.Met1708=)
c.4097T= (p.Met1366=)
c.3678T=
c.3239T= (p.Met1080=)
c.*1056T= (n.*1056T=)
c.4392T=
c.3968T= (p.Met1323=)
c.5165T= (p.Met1722=)
c.5162T= (p.Met1721=)
c.5117T= (p.Met1706=)
c.4241T= (p.Met1414=)
c.4010T= (p.Met1337=)
10g.94293596G>ACA377640795PLCE1c.4200G>A (p.Met1400Ile)
c.*1667G>A (n.*1667G>A)
n.1859G>A
n.543G>A
c.*408G>A (n.*408G>A)
c.4152G>A (p.Met1384Ile)
n.9332G>A
n.2797G>A
c.5036-4783G>A (n.5036-4783G>A)
c.5076G>A (p.Met1692Ile)
c.5124G>A (p.Met1708Ile)
c.4098G>A (p.Met1366Ile)
c.3679G>A
c.3240G>A (p.Met1080Ile)
c.*1057G>A (n.*1057G>A)
c.4393G>A
c.3969G>A (p.Met1323Ile)
c.5166G>A (p.Met1722Ile)
c.5163G>A (p.Met1721Ile)
c.5118G>A (p.Met1706Ile)
c.4242G>A (p.Met1414Ile)
c.4011G>A (p.Met1337Ile)
10g.94293596G>CCA377640797PLCE1c.4200G>C (p.Met1400Ile)
c.*1667G>C (n.*1667G>C)
n.1859G>C
n.543G>C
c.*408G>C (n.*408G>C)
c.4152G>C (p.Met1384Ile)
n.9332G>C
n.2797G>C
c.5036-4783G>C (n.5036-4783G>C)
c.5076G>C (p.Met1692Ile)
c.5124G>C (p.Met1708Ile)
c.4098G>C (p.Met1366Ile)
c.3679G>C
c.3240G>C (p.Met1080Ile)
c.*1057G>C (n.*1057G>C)
c.4393G>C
c.3969G>C (p.Met1323Ile)
c.5166G>C (p.Met1722Ile)
c.5163G>C (p.Met1721Ile)
c.5118G>C (p.Met1706Ile)
c.4242G>C (p.Met1414Ile)
c.4011G>C (p.Met1337Ile)
10g.94293596G>TCA377640799PLCE1c.4200G>T (p.Met1400Ile)
c.*1667G>T (n.*1667G>T)
n.1859G>T
n.543G>T
c.*408G>T (n.*408G>T)
c.4152G>T (p.Met1384Ile)
n.9332G>T
n.2797G>T
c.5036-4783G>T (n.5036-4783G>T)
c.5076G>T (p.Met1692Ile)
c.5124G>T (p.Met1708Ile)
c.4098G>T (p.Met1366Ile)
c.3679G>T
c.3240G>T (p.Met1080Ile)
c.*1057G>T (n.*1057G>T)
c.4393G>T
c.3969G>T (p.Met1323Ile)
c.5166G>T (p.Met1722Ile)
c.5163G>T (p.Met1721Ile)
c.5118G>T (p.Met1706Ile)
c.4242G>T (p.Met1414Ile)
c.4011G>T (p.Met1337Ile)
gnomAD v4
10g.94293597A>CCA377640802PLCE1c.4201A>C (p.Ser1401Arg)
c.*1668A>C (n.*1668A>C)
n.1860A>C
n.544A>C
c.*409A>C (n.*409A>C)
c.4153A>C (p.Ser1385Arg)
n.9333A>C
n.2798A>C
c.5036-4782A>C (n.5036-4782A>C)
c.5077A>C (p.Ser1693Arg)
c.5125A>C (p.Ser1709Arg)
c.4099A>C (p.Ser1367Arg)
c.3680A>C
c.3241A>C (p.Ser1081Arg)
c.*1058A>C (n.*1058A>C)
c.4394A>C
c.3970A>C (p.Ser1324Arg)
c.5167A>C (p.Ser1723Arg)
c.5164A>C (p.Ser1722Arg)
c.5119A>C (p.Ser1707Arg)
c.4243A>C (p.Ser1415Arg)
c.4012A>C (p.Ser1338Arg)
10g.94293597A>GCA377640804PLCE1c.4201A>G (p.Ser1401Gly)
c.*1668A>G (n.*1668A>G)
n.1860A>G
n.544A>G
c.*409A>G (n.*409A>G)
c.4153A>G (p.Ser1385Gly)
n.9333A>G
n.2798A>G
c.5036-4782A>G (n.5036-4782A>G)
c.5077A>G (p.Ser1693Gly)
c.5125A>G (p.Ser1709Gly)
c.4099A>G (p.Ser1367Gly)
c.3680A>G
c.3241A>G (p.Ser1081Gly)
c.*1058A>G (n.*1058A>G)
c.4394A>G
c.3970A>G (p.Ser1324Gly)
c.5167A>G (p.Ser1723Gly)
c.5164A>G (p.Ser1722Gly)
c.5119A>G (p.Ser1707Gly)
c.4243A>G (p.Ser1415Gly)
c.4012A>G (p.Ser1338Gly)
10g.94293597A>TCA377640805PLCE1c.4201A>T (p.Ser1401Cys)
c.*1668A>T (n.*1668A>T)
n.1860A>T
n.544A>T
c.*409A>T (n.*409A>T)
c.4153A>T (p.Ser1385Cys)
n.9333A>T
n.2798A>T
c.5036-4782A>T (n.5036-4782A>T)
c.5077A>T (p.Ser1693Cys)
c.5125A>T (p.Ser1709Cys)
c.4099A>T (p.Ser1367Cys)
c.3680A>T
c.3241A>T (p.Ser1081Cys)
c.*1058A>T (n.*1058A>T)
c.4394A>T
c.3970A>T (p.Ser1324Cys)
c.5167A>T (p.Ser1723Cys)
c.5164A>T (p.Ser1722Cys)
c.5119A>T (p.Ser1707Cys)
c.4243A>T (p.Ser1415Cys)
c.4012A>T (p.Ser1338Cys)
10g.94293598G>ACA377640809PLCE1c.4202G>A (p.Ser1401Asn)
c.*1669G>A (n.*1669G>A)
n.1861G>A
n.545G>A
c.*410G>A (n.*410G>A)
c.4154G>A (p.Ser1385Asn)
n.9334G>A
n.2799G>A
c.5036-4781G>A (n.5036-4781G>A)
c.5078G>A (p.Ser1693Asn)
c.5126G>A (p.Ser1709Asn)
c.4100G>A (p.Ser1367Asn)
c.3681G>A
c.3242G>A (p.Ser1081Asn)
c.*1059G>A (n.*1059G>A)
c.4395G>A
c.3971G>A (p.Ser1324Asn)
c.5168G>A (p.Ser1723Asn)
c.5165G>A (p.Ser1722Asn)
c.5120G>A (p.Ser1707Asn)
c.4244G>A (p.Ser1415Asn)
c.4013G>A (p.Ser1338Asn)
10g.94293598G>CCA377640811PLCE1c.4202G>C (p.Ser1401Thr)
c.*1669G>C (n.*1669G>C)
n.1861G>C
n.545G>C
c.*410G>C (n.*410G>C)
c.4154G>C (p.Ser1385Thr)
n.9334G>C
n.2799G>C
c.5036-4781G>C (n.5036-4781G>C)
c.5078G>C (p.Ser1693Thr)
c.5126G>C (p.Ser1709Thr)
c.4100G>C (p.Ser1367Thr)
c.3681G>C
c.3242G>C (p.Ser1081Thr)
c.*1059G>C (n.*1059G>C)
c.4395G>C
c.3971G>C (p.Ser1324Thr)
c.5168G>C (p.Ser1723Thr)
c.5165G>C (p.Ser1722Thr)
c.5120G>C (p.Ser1707Thr)
c.4244G>C (p.Ser1415Thr)
c.4013G>C (p.Ser1338Thr)
10g.94293598G>TCA377640807PLCE1c.4202G>T (p.Ser1401Ile)
c.*1669G>T (n.*1669G>T)
n.1861G>T
n.545G>T
c.*410G>T (n.*410G>T)
c.4154G>T (p.Ser1385Ile)
n.9334G>T
n.2799G>T
c.5036-4781G>T (n.5036-4781G>T)
c.5078G>T (p.Ser1693Ile)
c.5126G>T (p.Ser1709Ile)
c.4100G>T (p.Ser1367Ile)
c.3681G>T
c.3242G>T (p.Ser1081Ile)
c.*1059G>T (n.*1059G>T)
c.4395G>T
c.3971G>T (p.Ser1324Ile)
c.5168G>T (p.Ser1723Ile)
c.5165G>T (p.Ser1722Ile)
c.5120G>T (p.Ser1707Ile)
c.4244G>T (p.Ser1415Ile)
c.4013G>T (p.Ser1338Ile)
10g.94293599C>ACA377640813PLCE1c.4203C>A (p.Ser1401Arg)
c.*1670C>A (n.*1670C>A)
n.1862C>A
n.546C>A
c.*411C>A (n.*411C>A)
c.4155C>A (p.Ser1385Arg)
n.9335C>A
n.2800C>A
c.5036-4780C>A (n.5036-4780C>A)
c.5079C>A (p.Ser1693Arg)
c.5127C>A (p.Ser1709Arg)
c.4101C>A (p.Ser1367Arg)
c.3682C>A
c.3243C>A (p.Ser1081Arg)
c.*1060C>A (n.*1060C>A)
c.4396C>A
c.3972C>A (p.Ser1324Arg)
c.5169C>A (p.Ser1723Arg)
c.5166C>A (p.Ser1722Arg)
c.5121C>A (p.Ser1707Arg)
c.4245C>A (p.Ser1415Arg)
c.4014C>A (p.Ser1338Arg)
10g.94293599C>GCA377640815PLCE1c.4203C>G (p.Ser1401Arg)
c.*1670C>G (n.*1670C>G)
n.1862C>G
n.546C>G
c.*411C>G (n.*411C>G)
c.4155C>G (p.Ser1385Arg)
n.9335C>G
n.2800C>G
c.5036-4780C>G (n.5036-4780C>G)
c.5079C>G (p.Ser1693Arg)
c.5127C>G (p.Ser1709Arg)
c.4101C>G (p.Ser1367Arg)
c.3682C>G
c.3243C>G (p.Ser1081Arg)
c.*1060C>G (n.*1060C>G)
c.4396C>G
c.3972C>G (p.Ser1324Arg)
c.5169C>G (p.Ser1723Arg)
c.5166C>G (p.Ser1722Arg)
c.5121C>G (p.Ser1707Arg)
c.4245C>G (p.Ser1415Arg)
c.4014C>G (p.Ser1338Arg)
10g.94293599C>TCA470807634PLCE1c.4203C>T (p.Ser1401=)
c.*1670C>T (n.*1670C>T)
n.1862C>T
n.546C>T
c.*411C>T (n.*411C>T)
c.4155C>T (p.Ser1385=)
n.9335C>T
n.2800C>T
c.5036-4780C>T (n.5036-4780C>T)
c.5079C>T (p.Ser1693=)
c.5127C>T (p.Ser1709=)
c.4101C>T (p.Ser1367=)
c.3682C>T
c.3243C>T (p.Ser1081=)
c.*1060C>T (n.*1060C>T)
c.4396C>T
c.3972C>T (p.Ser1324=)
c.5169C>T (p.Ser1723=)
c.5166C>T (p.Ser1722=)
c.5121C>T (p.Ser1707=)
c.4245C>T (p.Ser1415=)
c.4014C>T (p.Ser1338=)
10g.94293600C>ACA377640817PLCE1c.4204C>A (p.Pro1402Thr)
c.*1671C>A (n.*1671C>A)
n.1863C>A
n.547C>A
c.*412C>A (n.*412C>A)
c.4156C>A (p.Pro1386Thr)
n.9336C>A
n.2801C>A
c.5036-4779C>A (n.5036-4779C>A)
c.5080C>A (p.Pro1694Thr)
c.5128C>A (p.Pro1710Thr)
c.4102C>A (p.Pro1368Thr)
c.3683C>A
c.3244C>A (p.Pro1082Thr)
c.*1061C>A (n.*1061C>A)
c.4397C>A
c.3973C>A (p.Pro1325Thr)
c.5170C>A (p.Pro1724Thr)
c.5167C>A (p.Pro1723Thr)
c.5122C>A (p.Pro1708Thr)
c.4246C>A (p.Pro1416Thr)
c.4015C>A (p.Pro1339Thr)
10g.94293600C>GCA377640819PLCE1c.4204C>G (p.Pro1402Ala)
c.*1671C>G (n.*1671C>G)
n.1863C>G
n.547C>G
c.*412C>G (n.*412C>G)
c.4156C>G (p.Pro1386Ala)
n.9336C>G
n.2801C>G
c.5036-4779C>G (n.5036-4779C>G)
c.5080C>G (p.Pro1694Ala)
c.5128C>G (p.Pro1710Ala)
c.4102C>G (p.Pro1368Ala)
c.3683C>G
c.3244C>G (p.Pro1082Ala)
c.*1061C>G (n.*1061C>G)
c.4397C>G
c.3973C>G (p.Pro1325Ala)
c.5170C>G (p.Pro1724Ala)
c.5167C>G (p.Pro1723Ala)
c.5122C>G (p.Pro1708Ala)
c.4246C>G (p.Pro1416Ala)
c.4015C>G (p.Pro1339Ala)
gnomAD v4
10g.94293600C>TCA377640821PLCE1c.4204C>T (p.Pro1402Ser)
c.*1671C>T (n.*1671C>T)
n.1863C>T
n.547C>T
c.*412C>T (n.*412C>T)
c.4156C>T (p.Pro1386Ser)
n.9336C>T
n.2801C>T
c.5036-4779C>T (n.5036-4779C>T)
c.5080C>T (p.Pro1694Ser)
c.5128C>T (p.Pro1710Ser)
c.4102C>T (p.Pro1368Ser)
c.3683C>T
c.3244C>T (p.Pro1082Ser)
c.*1061C>T (n.*1061C>T)
c.4397C>T
c.3973C>T (p.Pro1325Ser)
c.5170C>T (p.Pro1724Ser)
c.5167C>T (p.Pro1723Ser)
c.5122C>T (p.Pro1708Ser)
c.4246C>T (p.Pro1416Ser)
c.4015C>T (p.Pro1339Ser)
gnomAD v4
10g.94293601C>ACA377640826PLCE1c.4205C>A (p.Pro1402Gln)
c.*1672C>A (n.*1672C>A)
n.1864C>A
n.548C>A
c.*413C>A (n.*413C>A)
c.4157C>A (p.Pro1386Gln)
n.9337C>A
n.2802C>A
c.5036-4778C>A (n.5036-4778C>A)
c.5081C>A (p.Pro1694Gln)
c.5129C>A (p.Pro1710Gln)
c.4103C>A (p.Pro1368Gln)
c.3684C>A
c.3245C>A (p.Pro1082Gln)
c.*1062C>A (n.*1062C>A)
c.4398C>A
c.3974C>A (p.Pro1325Gln)
c.5171C>A (p.Pro1724Gln)
c.5168C>A (p.Pro1723Gln)
c.5123C>A (p.Pro1708Gln)
c.4247C>A (p.Pro1416Gln)
c.4016C>A (p.Pro1339Gln)
10g.94293601C>GCA377640823PLCE1c.4205C>G (p.Pro1402Arg)
c.*1672C>G (n.*1672C>G)
n.1864C>G
n.548C>G
c.*413C>G (n.*413C>G)
c.4157C>G (p.Pro1386Arg)
n.9337C>G
n.2802C>G
c.5036-4778C>G (n.5036-4778C>G)
c.5081C>G (p.Pro1694Arg)
c.5129C>G (p.Pro1710Arg)
c.4103C>G (p.Pro1368Arg)
c.3684C>G
c.3245C>G (p.Pro1082Arg)
c.*1062C>G (n.*1062C>G)
c.4398C>G
c.3974C>G (p.Pro1325Arg)
c.5171C>G (p.Pro1724Arg)
c.5168C>G (p.Pro1723Arg)
c.5123C>G (p.Pro1708Arg)
c.4247C>G (p.Pro1416Arg)
c.4016C>G (p.Pro1339Arg)
10g.94293601C>TCA377640825PLCE1c.4205C>T (p.Pro1402Leu)
c.*1672C>T (n.*1672C>T)
n.1864C>T
n.548C>T
c.*413C>T (n.*413C>T)
c.4157C>T (p.Pro1386Leu)
n.9337C>T
n.2802C>T
c.5036-4778C>T (n.5036-4778C>T)
c.5081C>T (p.Pro1694Leu)
c.5129C>T (p.Pro1710Leu)
c.4103C>T (p.Pro1368Leu)
c.3684C>T
c.3245C>T (p.Pro1082Leu)
c.*1062C>T (n.*1062C>T)
c.4398C>T
c.3974C>T (p.Pro1325Leu)
c.5171C>T (p.Pro1724Leu)
c.5168C>T (p.Pro1723Leu)
c.5123C>T (p.Pro1708Leu)
c.4247C>T (p.Pro1416Leu)
c.4016C>T (p.Pro1339Leu)
10g.94293602A>CCA470807642PLCE1c.4206A>C (p.Pro1402=)
c.*1673A>C (n.*1673A>C)
n.1865A>C
n.549A>C
c.*414A>C (n.*414A>C)
c.4158A>C (p.Pro1386=)
n.9338A>C
n.2803A>C
c.5036-4777A>C (n.5036-4777A>C)
c.5082A>C (p.Pro1694=)
c.5130A>C (p.Pro1710=)
c.4104A>C (p.Pro1368=)
c.3685A>C
c.3246A>C (p.Pro1082=)
c.*1063A>C (n.*1063A>C)
c.4399A>C
c.3975A>C (p.Pro1325=)
c.5172A>C (p.Pro1724=)
c.5169A>C (p.Pro1723=)
c.5124A>C (p.Pro1708=)
c.4248A>C (p.Pro1416=)
c.4017A>C (p.Pro1339=)
10g.94293602A>GCA470807644PLCE1c.4206A>G (p.Pro1402=)
c.*1673A>G (n.*1673A>G)
n.1865A>G
n.549A>G
c.*414A>G (n.*414A>G)
c.4158A>G (p.Pro1386=)
n.9338A>G
n.2803A>G
c.5036-4777A>G (n.5036-4777A>G)
c.5082A>G (p.Pro1694=)
c.5130A>G (p.Pro1710=)
c.4104A>G (p.Pro1368=)
c.3685A>G
c.3246A>G (p.Pro1082=)
c.*1063A>G (n.*1063A>G)
c.4399A>G
c.3975A>G (p.Pro1325=)
c.5172A>G (p.Pro1724=)
c.5169A>G (p.Pro1723=)
c.5124A>G (p.Pro1708=)
c.4248A>G (p.Pro1416=)
c.4017A>G (p.Pro1339=)
gnomAD v4
10g.94293602A>TCA470807646PLCE1c.4206A>T (p.Pro1402=)
c.*1673A>T (n.*1673A>T)
n.1865A>T
n.549A>T
c.*414A>T (n.*414A>T)
c.4158A>T (p.Pro1386=)
n.9338A>T
n.2803A>T
c.5036-4777A>T (n.5036-4777A>T)
c.5082A>T (p.Pro1694=)
c.5130A>T (p.Pro1710=)
c.4104A>T (p.Pro1368=)
c.3685A>T
c.3246A>T (p.Pro1082=)
c.*1063A>T (n.*1063A>T)
c.4399A>T
c.3975A>T (p.Pro1325=)
c.5172A>T (p.Pro1724=)
c.5169A>T (p.Pro1723=)
c.5124A>T (p.Pro1708=)
c.4248A>T (p.Pro1416=)
c.4017A>T (p.Pro1339=)
10g.94293603G>ACA377640829PLCE1c.4207G>A (p.Gly1403Arg)
c.*1674G>A (n.*1674G>A)
n.1866G>A
n.550G>A
c.*415G>A (n.*415G>A)
c.4159G>A (p.Gly1387Arg)
n.9339G>A
n.2804G>A
c.5036-4776G>A (n.5036-4776G>A)
c.5083G>A (p.Gly1695Arg)
c.5131G>A (p.Gly1711Arg)
c.4105G>A (p.Gly1369Arg)
c.3686G>A
c.3247G>A (p.Gly1083Arg)
c.*1064G>A (n.*1064G>A)
c.4400G>A
c.3976G>A (p.Gly1326Arg)
c.5173G>A (p.Gly1725Arg)
c.5170G>A (p.Gly1724Arg)
c.5125G>A (p.Gly1709Arg)
c.4249G>A (p.Gly1417Arg)
c.4018G>A (p.Gly1340Arg)
10g.94293603G>CCA377640831PLCE1c.4207G>C (p.Gly1403Arg)
c.*1674G>C (n.*1674G>C)
n.1866G>C
n.550G>C
c.*415G>C (n.*415G>C)
c.4159G>C (p.Gly1387Arg)
n.9339G>C
n.2804G>C
c.5036-4776G>C (n.5036-4776G>C)
c.5083G>C (p.Gly1695Arg)
c.5131G>C (p.Gly1711Arg)
c.4105G>C (p.Gly1369Arg)
c.3686G>C
c.3247G>C (p.Gly1083Arg)
c.*1064G>C (n.*1064G>C)
c.4400G>C
c.3976G>C (p.Gly1326Arg)
c.5173G>C (p.Gly1725Arg)
c.5170G>C (p.Gly1724Arg)
c.5125G>C (p.Gly1709Arg)
c.4249G>C (p.Gly1417Arg)
c.4018G>C (p.Gly1340Arg)
10g.94293603G=CA1928996203PLCE1c.4207G= (p.Gly1403=)
c.*1674G= (n.*1674G=)
n.1866G=
n.550G=
c.*415G= (n.*415G=)
c.4159G= (p.Gly1387=)
n.9339G=
n.2804G=
c.5036-4776G= (n.5036-4776G=)
c.5083G= (p.Gly1695=)
c.5131G= (p.Gly1711=)
c.4105G= (p.Gly1369=)
c.3686G=
c.3247G= (p.Gly1083=)
c.*1064G= (n.*1064G=)
c.4400G=
c.3976G= (p.Gly1326=)
c.5173G= (p.Gly1725=)
c.5170G= (p.Gly1724=)
c.5125G= (p.Gly1709=)
c.4249G= (p.Gly1417=)
c.4018G= (p.Gly1340=)
10g.94293603G>TCA377640832PLCE1c.4207G>T (p.Gly1403Trp)
c.*1674G>T (n.*1674G>T)
n.1866G>T
n.550G>T
c.*415G>T (n.*415G>T)
c.4159G>T (p.Gly1387Trp)
n.9339G>T
n.2804G>T
c.5036-4776G>T (n.5036-4776G>T)
c.5083G>T (p.Gly1695Trp)
c.5131G>T (p.Gly1711Trp)
c.4105G>T (p.Gly1369Trp)
c.3686G>T
c.3247G>T (p.Gly1083Trp)
c.*1064G>T (n.*1064G>T)
c.4400G>T
c.3976G>T (p.Gly1326Trp)
c.5173G>T (p.Gly1725Trp)
c.5170G>T (p.Gly1724Trp)
c.5125G>T (p.Gly1709Trp)
c.4249G>T (p.Gly1417Trp)
c.4018G>T (p.Gly1340Trp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
10g.94293604G>ACA377640833PLCE1c.4208G>A (p.Gly1403Glu)
c.*1675G>A (n.*1675G>A)
n.1867G>A
n.551G>A
c.*416G>A (n.*416G>A)
c.4160G>A (p.Gly1387Glu)
n.9340G>A
n.2805G>A
c.5036-4775G>A (n.5036-4775G>A)
c.5084G>A (p.Gly1695Glu)
c.5132G>A (p.Gly1711Glu)
c.4106G>A (p.Gly1369Glu)
c.3687G>A
c.3248G>A (p.Gly1083Glu)
c.*1065G>A (n.*1065G>A)
c.4401G>A
c.3977G>A (p.Gly1326Glu)
c.5174G>A (p.Gly1725Glu)
c.5171G>A (p.Gly1724Glu)
c.5126G>A (p.Gly1709Glu)
c.4250G>A (p.Gly1417Glu)
c.4019G>A (p.Gly1340Glu)
dbSNP
10g.94293604G>CCA377640835PLCE1c.4208G>C (p.Gly1403Ala)
c.*1675G>C (n.*1675G>C)
n.1867G>C
n.551G>C
c.*416G>C (n.*416G>C)
c.4160G>C (p.Gly1387Ala)
n.9340G>C
n.2805G>C
c.5036-4775G>C (n.5036-4775G>C)
c.5084G>C (p.Gly1695Ala)
c.5132G>C (p.Gly1711Ala)
c.4106G>C (p.Gly1369Ala)
c.3687G>C
c.3248G>C (p.Gly1083Ala)
c.*1065G>C (n.*1065G>C)
c.4401G>C
c.3977G>C (p.Gly1326Ala)
c.5174G>C (p.Gly1725Ala)
c.5171G>C (p.Gly1724Ala)
c.5126G>C (p.Gly1709Ala)
c.4250G>C (p.Gly1417Ala)
c.4019G>C (p.Gly1340Ala)
10g.94293604G=CA1928996204PLCE1c.4208G= (p.Gly1403=)
c.*1675G= (n.*1675G=)
n.1867G=
n.551G=
c.*416G= (n.*416G=)
c.4160G= (p.Gly1387=)
n.9340G=
n.2805G=
c.5036-4775G= (n.5036-4775G=)
c.5084G= (p.Gly1695=)
c.5132G= (p.Gly1711=)
c.4106G= (p.Gly1369=)
c.3687G=
c.3248G= (p.Gly1083=)
c.*1065G= (n.*1065G=)
c.4401G=
c.3977G= (p.Gly1326=)
c.5174G= (p.Gly1725=)
c.5171G= (p.Gly1724=)
c.5126G= (p.Gly1709=)
c.4250G= (p.Gly1417=)
c.4019G= (p.Gly1340=)
10g.94293604G>TCA377640837PLCE1c.4208G>T (p.Gly1403Val)
c.*1675G>T (n.*1675G>T)
n.1867G>T
n.551G>T
c.*416G>T (n.*416G>T)
c.4160G>T (p.Gly1387Val)
n.9340G>T
n.2805G>T
c.5036-4775G>T (n.5036-4775G>T)
c.5084G>T (p.Gly1695Val)
c.5132G>T (p.Gly1711Val)
c.4106G>T (p.Gly1369Val)
c.3687G>T
c.3248G>T (p.Gly1083Val)
c.*1065G>T (n.*1065G>T)
c.4401G>T
c.3977G>T (p.Gly1326Val)
c.5174G>T (p.Gly1725Val)
c.5171G>T (p.Gly1724Val)
c.5126G>T (p.Gly1709Val)
c.4250G>T (p.Gly1417Val)
c.4019G>T (p.Gly1340Val)
10g.94293605G>ACA470807656PLCE1c.4209G>A (p.Gly1403=)
c.*1676G>A (n.*1676G>A)
n.1868G>A
n.552G>A
c.*417G>A (n.*417G>A)
c.4161G>A (p.Gly1387=)
n.9341G>A
n.2806G>A
c.5036-4774G>A (n.5036-4774G>A)
c.5085G>A (p.Gly1695=)
c.5133G>A (p.Gly1711=)
c.4107G>A (p.Gly1369=)
c.3688G>A
c.3249G>A (p.Gly1083=)
c.*1066G>A (n.*1066G>A)
c.4402G>A
c.3978G>A (p.Gly1326=)
c.5175G>A (p.Gly1725=)
c.5172G>A (p.Gly1724=)
c.5127G>A (p.Gly1709=)
c.4251G>A (p.Gly1417=)
c.4020G>A (p.Gly1340=)
gnomAD v4
10g.94293605G>CCA470807658PLCE1c.4209G>C (p.Gly1403=)
c.*1676G>C (n.*1676G>C)
n.1868G>C
n.552G>C
c.*417G>C (n.*417G>C)
c.4161G>C (p.Gly1387=)
n.9341G>C
n.2806G>C
c.5036-4774G>C (n.5036-4774G>C)
c.5085G>C (p.Gly1695=)
c.5133G>C (p.Gly1711=)
c.4107G>C (p.Gly1369=)
c.3688G>C
c.3249G>C (p.Gly1083=)
c.*1066G>C (n.*1066G>C)
c.4402G>C
c.3978G>C (p.Gly1326=)
c.5175G>C (p.Gly1725=)
c.5172G>C (p.Gly1724=)
c.5127G>C (p.Gly1709=)
c.4251G>C (p.Gly1417=)
c.4020G>C (p.Gly1340=)
10g.94293605G>TCA470807668PLCE1c.4209G>T (p.Gly1403=)
c.*1676G>T (n.*1676G>T)
n.1868G>T
n.552G>T
c.*417G>T (n.*417G>T)
c.4161G>T (p.Gly1387=)
n.9341G>T
n.2806G>T
c.5036-4774G>T (n.5036-4774G>T)
c.5085G>T (p.Gly1695=)
c.5133G>T (p.Gly1711=)
c.4107G>T (p.Gly1369=)
c.3688G>T
c.3249G>T (p.Gly1083=)
c.*1066G>T (n.*1066G>T)
c.4402G>T
c.3978G>T (p.Gly1326=)
c.5175G>T (p.Gly1725=)
c.5172G>T (p.Gly1724=)
c.5127G>T (p.Gly1709=)
c.4251G>T (p.Gly1417=)
c.4020G>T (p.Gly1340=)
10g.94293606G>ACA377640841PLCE1c.4210G>A (p.Glu1404Lys)
c.*1677G>A (n.*1677G>A)
n.1869G>A
n.553G>A
c.*418G>A (n.*418G>A)
c.4162G>A (p.Glu1388Lys)
n.9342G>A
n.2807G>A
c.5036-4773G>A (n.5036-4773G>A)
c.5086G>A (p.Glu1696Lys)
c.5134G>A (p.Glu1712Lys)
c.4108G>A (p.Glu1370Lys)
c.3689G>A
c.3250G>A (p.Glu1084Lys)
c.*1067G>A (n.*1067G>A)
c.4403G>A
c.3979G>A (p.Glu1327Lys)
c.5176G>A (p.Glu1726Lys)
c.5173G>A (p.Glu1725Lys)
c.5128G>A (p.Glu1710Lys)
c.4252G>A (p.Glu1418Lys)
c.4021G>A (p.Glu1341Lys)
10g.94293606G>CCA377640842PLCE1c.4210G>C (p.Glu1404Gln)
c.*1677G>C (n.*1677G>C)
n.1869G>C
n.553G>C
c.*418G>C (n.*418G>C)
c.4162G>C (p.Glu1388Gln)
n.9342G>C
n.2807G>C
c.5036-4773G>C (n.5036-4773G>C)
c.5086G>C (p.Glu1696Gln)
c.5134G>C (p.Glu1712Gln)
c.4108G>C (p.Glu1370Gln)
c.3689G>C
c.3250G>C (p.Glu1084Gln)
c.*1067G>C (n.*1067G>C)
c.4403G>C
c.3979G>C (p.Glu1327Gln)
c.5176G>C (p.Glu1726Gln)
c.5173G>C (p.Glu1725Gln)
c.5128G>C (p.Glu1710Gln)
c.4252G>C (p.Glu1418Gln)
c.4021G>C (p.Glu1341Gln)
10g.94293606G>TCA377640839PLCE1c.4210G>T (p.Glu1404Ter)
c.*1677G>T (n.*1677G>T)
n.1869G>T
n.553G>T
c.*418G>T (n.*418G>T)
c.4162G>T (p.Glu1388Ter)
n.9342G>T
n.2807G>T
c.5036-4773G>T (n.5036-4773G>T)
c.5086G>T (p.Glu1696Ter)
c.5134G>T (p.Glu1712Ter)
c.4108G>T (p.Glu1370Ter)
c.3689G>T
c.3250G>T (p.Glu1084Ter)
c.*1067G>T (n.*1067G>T)
c.4403G>T
c.3979G>T (p.Glu1327Ter)
c.5176G>T (p.Glu1726Ter)
c.5173G>T (p.Glu1725Ter)
c.5128G>T (p.Glu1710Ter)
c.4252G>T (p.Glu1418Ter)
c.4021G>T (p.Glu1341Ter)
10g.94293608_94293609dupCA2610239507PLCE1c.4212_4213dup (p.Thr1405ArgfsTer?)
c.*1679_*1680dup (n.*1679_*1680dup)
n.1871_1872dup
n.555_556dup
c.*420_*421dup (n.*420_*421dup)
c.4164_4165dup (p.Thr1389ArgfsTer?)
n.9344_9345dup
n.2809_2810dup
c.5036-4771_5036-4770dup (n.5036-4771_5036-4770dup)
c.5088_5089dup (p.Thr1697ArgfsTer?)
c.5136_5137dup (p.Thr1713ArgfsTer?)
c.4110_4111dup (p.Thr1371ArgfsTer?)
c.3691_3692dup
c.3252_3253dup (p.Thr1085ArgfsTer?)
c.*1069_*1070dup (n.*1069_*1070dup)
c.4405_4406dup
c.3981_3982dup (p.Thr1328ArgfsTer?)
c.5178_5179dup (p.Thr1727ArgfsTer?)
c.5175_5176dup (p.Thr1726ArgfsTer?)
c.5130_5131dup (p.Thr1711ArgfsTer?)
c.4254_4255dup (p.Thr1419ArgfsTer?)
c.4023_4024dup (p.Thr1342ArgfsTer?)
gnomAD v4
10g.94293607A>CCA377640846PLCE1c.4211A>C (p.Glu1404Ala)
c.*1678A>C (n.*1678A>C)
n.1870A>C
n.554A>C
c.*419A>C (n.*419A>C)
c.4163A>C (p.Glu1388Ala)
n.9343A>C
n.2808A>C
c.5036-4772A>C (n.5036-4772A>C)
c.5087A>C (p.Glu1696Ala)
c.5135A>C (p.Glu1712Ala)
c.4109A>C (p.Glu1370Ala)
c.3690A>C
c.3251A>C (p.Glu1084Ala)
c.*1068A>C (n.*1068A>C)
c.4404A>C
c.3980A>C (p.Glu1327Ala)
c.5177A>C (p.Glu1726Ala)
c.5174A>C (p.Glu1725Ala)
c.5129A>C (p.Glu1710Ala)
c.4253A>C (p.Glu1418Ala)
c.4022A>C (p.Glu1341Ala)
10g.94293607A>GCA377640844PLCE1c.4211A>G (p.Glu1404Gly)
c.*1678A>G (n.*1678A>G)
n.1870A>G
n.554A>G
c.*419A>G (n.*419A>G)
c.4163A>G (p.Glu1388Gly)
n.9343A>G
n.2808A>G
c.5036-4772A>G (n.5036-4772A>G)
c.5087A>G (p.Glu1696Gly)
c.5135A>G (p.Glu1712Gly)
c.4109A>G (p.Glu1370Gly)
c.3690A>G
c.3251A>G (p.Glu1084Gly)
c.*1068A>G (n.*1068A>G)
c.4404A>G
c.3980A>G (p.Glu1327Gly)
c.5177A>G (p.Glu1726Gly)
c.5174A>G (p.Glu1725Gly)
c.5129A>G (p.Glu1710Gly)
c.4253A>G (p.Glu1418Gly)
c.4022A>G (p.Glu1341Gly)
10g.94293607A>TCA377640848PLCE1c.4211A>T (p.Glu1404Val)
c.*1678A>T (n.*1678A>T)
n.1870A>T
n.554A>T
c.*419A>T (n.*419A>T)
c.4163A>T (p.Glu1388Val)
n.9343A>T
n.2808A>T
c.5036-4772A>T (n.5036-4772A>T)
c.5087A>T (p.Glu1696Val)
c.5135A>T (p.Glu1712Val)
c.4109A>T (p.Glu1370Val)
c.3690A>T
c.3251A>T (p.Glu1084Val)
c.*1068A>T (n.*1068A>T)
c.4404A>T
c.3980A>T (p.Glu1327Val)
c.5177A>T (p.Glu1726Val)
c.5174A>T (p.Glu1725Val)
c.5129A>T (p.Glu1710Val)
c.4253A>T (p.Glu1418Val)
c.4022A>T (p.Glu1341Val)
10g.94293608G>ACA470807672PLCE1c.4212G>A (p.Glu1404=)
c.*1679G>A (n.*1679G>A)
n.1871G>A
n.555G>A
c.*420G>A (n.*420G>A)
c.4164G>A (p.Glu1388=)
n.9344G>A
n.2809G>A
c.5036-4771G>A (n.5036-4771G>A)
c.5088G>A (p.Glu1696=)
c.5136G>A (p.Glu1712=)
c.4110G>A (p.Glu1370=)
c.3691G>A
c.3252G>A (p.Glu1084=)
c.*1069G>A (n.*1069G>A)
c.4405G>A
c.3981G>A (p.Glu1327=)
c.5178G>A (p.Glu1726=)
c.5175G>A (p.Glu1725=)
c.5130G>A (p.Glu1710=)
c.4254G>A (p.Glu1418=)
c.4023G>A (p.Glu1341=)
gnomAD v4
10g.94293608G>CCA377640851PLCE1c.4212G>C (p.Glu1404Asp)
c.*1679G>C (n.*1679G>C)
n.1871G>C
n.555G>C
c.*420G>C (n.*420G>C)
c.4164G>C (p.Glu1388Asp)
n.9344G>C
n.2809G>C
c.5036-4771G>C (n.5036-4771G>C)
c.5088G>C (p.Glu1696Asp)
c.5136G>C (p.Glu1712Asp)
c.4110G>C (p.Glu1370Asp)
c.3691G>C
c.3252G>C (p.Glu1084Asp)
c.*1069G>C (n.*1069G>C)
c.4405G>C
c.3981G>C (p.Glu1327Asp)
c.5178G>C (p.Glu1726Asp)
c.5175G>C (p.Glu1725Asp)
c.5130G>C (p.Glu1710Asp)
c.4254G>C (p.Glu1418Asp)
c.4023G>C (p.Glu1341Asp)
10g.94293608G>TCA377640852PLCE1c.4212G>T (p.Glu1404Asp)
c.*1679G>T (n.*1679G>T)
n.1871G>T
n.555G>T
c.*420G>T (n.*420G>T)
c.4164G>T (p.Glu1388Asp)
n.9344G>T
n.2809G>T
c.5036-4771G>T (n.5036-4771G>T)
c.5088G>T (p.Glu1696Asp)
c.5136G>T (p.Glu1712Asp)
c.4110G>T (p.Glu1370Asp)
c.3691G>T
c.3252G>T (p.Glu1084Asp)
c.*1069G>T (n.*1069G>T)
c.4405G>T
c.3981G>T (p.Glu1327Asp)
c.5178G>T (p.Glu1726Asp)
c.5175G>T (p.Glu1725Asp)
c.5130G>T (p.Glu1710Asp)
c.4254G>T (p.Glu1418Asp)
c.4023G>T (p.Glu1341Asp)
10g.94293609A>CCA377640854PLCE1c.4213A>C (p.Thr1405Pro)
c.*1680A>C (n.*1680A>C)
n.1872A>C
n.556A>C
c.*421A>C (n.*421A>C)
c.4165A>C (p.Thr1389Pro)
n.9345A>C
n.2810A>C
c.5036-4770A>C (n.5036-4770A>C)
c.5089A>C (p.Thr1697Pro)
c.5137A>C (p.Thr1713Pro)
c.4111A>C (p.Thr1371Pro)
c.3692A>C
c.3253A>C (p.Thr1085Pro)
c.*1070A>C (n.*1070A>C)
c.4406A>C
c.3982A>C (p.Thr1328Pro)
c.5179A>C (p.Thr1727Pro)
c.5176A>C (p.Thr1726Pro)
c.5131A>C (p.Thr1711Pro)
c.4255A>C (p.Thr1419Pro)
c.4024A>C (p.Thr1342Pro)
10g.94293609A>GCA377640856PLCE1c.4213A>G (p.Thr1405Ala)
c.*1680A>G (n.*1680A>G)
n.1872A>G
n.556A>G
c.*421A>G (n.*421A>G)
c.4165A>G (p.Thr1389Ala)
n.9345A>G
n.2810A>G
c.5036-4770A>G (n.5036-4770A>G)
c.5089A>G (p.Thr1697Ala)
c.5137A>G (p.Thr1713Ala)
c.4111A>G (p.Thr1371Ala)
c.3692A>G
c.3253A>G (p.Thr1085Ala)
c.*1070A>G (n.*1070A>G)
c.4406A>G
c.3982A>G (p.Thr1328Ala)
c.5179A>G (p.Thr1727Ala)
c.5176A>G (p.Thr1726Ala)
c.5131A>G (p.Thr1711Ala)
c.4255A>G (p.Thr1419Ala)
c.4024A>G (p.Thr1342Ala)
10g.94293609A>TCA377640858PLCE1c.4213A>T (p.Thr1405Ser)
c.*1680A>T (n.*1680A>T)
n.1872A>T
n.556A>T
c.*421A>T (n.*421A>T)
c.4165A>T (p.Thr1389Ser)
n.9345A>T
n.2810A>T
c.5036-4770A>T (n.5036-4770A>T)
c.5089A>T (p.Thr1697Ser)
c.5137A>T (p.Thr1713Ser)
c.4111A>T (p.Thr1371Ser)
c.3692A>T
c.3253A>T (p.Thr1085Ser)
c.*1070A>T (n.*1070A>T)
c.4406A>T
c.3982A>T (p.Thr1328Ser)
c.5179A>T (p.Thr1727Ser)
c.5176A>T (p.Thr1726Ser)
c.5131A>T (p.Thr1711Ser)
c.4255A>T (p.Thr1419Ser)
c.4024A>T (p.Thr1342Ser)
10g.94293610C>ACA377640860PLCE1c.4214C>A (p.Thr1405Lys)
c.*1681C>A (n.*1681C>A)
n.1873C>A
n.557C>A
c.*422C>A (n.*422C>A)
c.4166C>A (p.Thr1389Lys)
n.9346C>A
n.2811C>A
c.5036-4769C>A (n.5036-4769C>A)
c.5090C>A (p.Thr1697Lys)
c.5138C>A (p.Thr1713Lys)
c.4112C>A (p.Thr1371Lys)
c.3693C>A
c.3254C>A (p.Thr1085Lys)
c.*1071C>A (n.*1071C>A)
c.4407C>A
c.3983C>A (p.Thr1328Lys)
c.5180C>A (p.Thr1727Lys)
c.5177C>A (p.Thr1726Lys)
c.5132C>A (p.Thr1711Lys)
c.4256C>A (p.Thr1419Lys)
c.4025C>A (p.Thr1342Lys)
10g.94293610C=CA1928996205PLCE1c.4214C= (p.Thr1405=)
c.*1681C= (n.*1681C=)
n.1873C=
n.557C=
c.*422C= (n.*422C=)
c.4166C= (p.Thr1389=)
n.9346C=
n.2811C=
c.5036-4769C= (n.5036-4769C=)
c.5090C= (p.Thr1697=)
c.5138C= (p.Thr1713=)
c.4112C= (p.Thr1371=)
c.3693C=
c.3254C= (p.Thr1085=)
c.*1071C= (n.*1071C=)
c.4407C=
c.3983C= (p.Thr1328=)
c.5180C= (p.Thr1727=)
c.5177C= (p.Thr1726=)
c.5132C= (p.Thr1711=)
c.4256C= (p.Thr1419=)
c.4025C= (p.Thr1342=)
10g.94293610C>GCA377640862PLCE1c.4214C>G (p.Thr1405Arg)
c.*1681C>G (n.*1681C>G)
n.1873C>G
n.557C>G
c.*422C>G (n.*422C>G)
c.4166C>G (p.Thr1389Arg)
n.9346C>G
n.2811C>G
c.5036-4769C>G (n.5036-4769C>G)
c.5090C>G (p.Thr1697Arg)
c.5138C>G (p.Thr1713Arg)
c.4112C>G (p.Thr1371Arg)
c.3693C>G
c.3254C>G (p.Thr1085Arg)
c.*1071C>G (n.*1071C>G)
c.4407C>G
c.3983C>G (p.Thr1328Arg)
c.5180C>G (p.Thr1727Arg)
c.5177C>G (p.Thr1726Arg)
c.5132C>G (p.Thr1711Arg)
c.4256C>G (p.Thr1419Arg)
c.4025C>G (p.Thr1342Arg)
10g.94293610C>TCA377640864PLCE1c.4214C>T (p.Thr1405Ile)
c.*1681C>T (n.*1681C>T)
n.1873C>T
n.557C>T
c.*422C>T (n.*422C>T)
c.4166C>T (p.Thr1389Ile)
n.9346C>T
n.2811C>T
c.5036-4769C>T (n.5036-4769C>T)
c.5090C>T (p.Thr1697Ile)
c.5138C>T (p.Thr1713Ile)
c.4112C>T (p.Thr1371Ile)
c.3693C>T
c.3254C>T (p.Thr1085Ile)
c.*1071C>T (n.*1071C>T)
c.4407C>T
c.3983C>T (p.Thr1328Ile)
c.5180C>T (p.Thr1727Ile)
c.5177C>T (p.Thr1726Ile)
c.5132C>T (p.Thr1711Ile)
c.4256C>T (p.Thr1419Ile)
c.4025C>T (p.Thr1342Ile)
dbSNP gnomAD v3 gnomAD v4
10g.94293611A=CA1928996206PLCE1c.4215A= (p.Thr1405=)
c.*1682A= (n.*1682A=)
n.1874A=
n.558A=
c.*423A= (n.*423A=)
c.4167A= (p.Thr1389=)
n.9347A=
n.2812A=
c.5036-4768A= (n.5036-4768A=)
c.5091A= (p.Thr1697=)
c.5139A= (p.Thr1713=)
c.4113A= (p.Thr1371=)
c.3694A=
c.3255A= (p.Thr1085=)
c.*1072A= (n.*1072A=)
c.4408A=
c.3984A= (p.Thr1328=)
c.5181A= (p.Thr1727=)
c.5178A= (p.Thr1726=)
c.5133A= (p.Thr1711=)
c.4257A= (p.Thr1419=)
c.4026A= (p.Thr1342=)
10g.94293611A>CCA470807682PLCE1c.4215A>C (p.Thr1405=)
c.*1682A>C (n.*1682A>C)
n.1874A>C
n.558A>C
c.*423A>C (n.*423A>C)
c.4167A>C (p.Thr1389=)
n.9347A>C
n.2812A>C
c.5036-4768A>C (n.5036-4768A>C)
c.5091A>C (p.Thr1697=)
c.5139A>C (p.Thr1713=)
c.4113A>C (p.Thr1371=)
c.3694A>C
c.3255A>C (p.Thr1085=)
c.*1072A>C (n.*1072A>C)
c.4408A>C
c.3984A>C (p.Thr1328=)
c.5181A>C (p.Thr1727=)
c.5178A>C (p.Thr1726=)
c.5133A>C (p.Thr1711=)
c.4257A>C (p.Thr1419=)
c.4026A>C (p.Thr1342=)
10g.94293611A>GCA470807681PLCE1c.4215A>G (p.Thr1405=)
c.*1682A>G (n.*1682A>G)
n.1874A>G
n.558A>G
c.*423A>G (n.*423A>G)
c.4167A>G (p.Thr1389=)
n.9347A>G
n.2812A>G
c.5036-4768A>G (n.5036-4768A>G)
c.5091A>G (p.Thr1697=)
c.5139A>G (p.Thr1713=)
c.4113A>G (p.Thr1371=)
c.3694A>G
c.3255A>G (p.Thr1085=)
c.*1072A>G (n.*1072A>G)
c.4408A>G
c.3984A>G (p.Thr1328=)
c.5181A>G (p.Thr1727=)
c.5178A>G (p.Thr1726=)
c.5133A>G (p.Thr1711=)
c.4257A>G (p.Thr1419=)
c.4026A>G (p.Thr1342=)
10g.94293611A>TCA5613292PLCE1c.4215A>T (p.Thr1405=)
c.*1682A>T (n.*1682A>T)
n.1874A>T
n.558A>T
c.*423A>T (n.*423A>T)
c.4167A>T (p.Thr1389=)
n.9347A>T
n.2812A>T
c.5036-4768A>T (n.5036-4768A>T)
c.5091A>T (p.Thr1697=)
c.5139A>T (p.Thr1713=)
c.4113A>T (p.Thr1371=)
c.3694A>T
c.3255A>T (p.Thr1085=)
c.*1072A>T (n.*1072A>T)
c.4408A>T
c.3984A>T (p.Thr1328=)
c.5181A>T (p.Thr1727=)
c.5178A>T (p.Thr1726=)
c.5133A>T (p.Thr1711=)
c.4257A>T (p.Thr1419=)
c.4026A>T (p.Thr1342=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94293612G>ACA377640867PLCE1c.4216G>A (p.Ala1406Thr)
c.*1683G>A (n.*1683G>A)
n.1875G>A
n.559G>A
c.*424G>A (n.*424G>A)
c.4168G>A (p.Ala1390Thr)
n.9348G>A
n.2813G>A
c.5036-4767G>A (n.5036-4767G>A)
c.5092G>A (p.Ala1698Thr)
c.5140G>A (p.Ala1714Thr)
c.4114G>A (p.Ala1372Thr)
c.3695G>A
c.3256G>A (p.Ala1086Thr)
c.*1073G>A (n.*1073G>A)
c.4409G>A
c.3985G>A (p.Ala1329Thr)
c.5182G>A (p.Ala1728Thr)
c.5179G>A (p.Ala1727Thr)
c.5134G>A (p.Ala1712Thr)
c.4258G>A (p.Ala1420Thr)
c.4027G>A (p.Ala1343Thr)
dbSNP gnomAD v4
10g.94293612G>CCA377640868PLCE1c.4216G>C (p.Ala1406Pro)
c.*1683G>C (n.*1683G>C)
n.1875G>C
n.559G>C
c.*424G>C (n.*424G>C)
c.4168G>C (p.Ala1390Pro)
n.9348G>C
n.2813G>C
c.5036-4767G>C (n.5036-4767G>C)
c.5092G>C (p.Ala1698Pro)
c.5140G>C (p.Ala1714Pro)
c.4114G>C (p.Ala1372Pro)
c.3695G>C
c.3256G>C (p.Ala1086Pro)
c.*1073G>C (n.*1073G>C)
c.4409G>C
c.3985G>C (p.Ala1329Pro)
c.5182G>C (p.Ala1728Pro)
c.5179G>C (p.Ala1727Pro)
c.5134G>C (p.Ala1712Pro)
c.4258G>C (p.Ala1420Pro)
c.4027G>C (p.Ala1343Pro)
10g.94293612G=CA1928996207PLCE1c.4216G= (p.Ala1406=)
c.*1683G= (n.*1683G=)
n.1875G=
n.559G=
c.*424G= (n.*424G=)
c.4168G= (p.Ala1390=)
n.9348G=
n.2813G=
c.5036-4767G= (n.5036-4767G=)
c.5092G= (p.Ala1698=)
c.5140G= (p.Ala1714=)
c.4114G= (p.Ala1372=)
c.3695G=
c.3256G= (p.Ala1086=)
c.*1073G= (n.*1073G=)
c.4409G=
c.3985G= (p.Ala1329=)
c.5182G= (p.Ala1728=)
c.5179G= (p.Ala1727=)
c.5134G= (p.Ala1712=)
c.4258G= (p.Ala1420=)
c.4027G= (p.Ala1343=)
10g.94293612G>TCA377640870PLCE1c.4216G>T (p.Ala1406Ser)
c.*1683G>T (n.*1683G>T)
n.1875G>T
n.559G>T
c.*424G>T (n.*424G>T)
c.4168G>T (p.Ala1390Ser)
n.9348G>T
n.2813G>T
c.5036-4767G>T (n.5036-4767G>T)
c.5092G>T (p.Ala1698Ser)
c.5140G>T (p.Ala1714Ser)
c.4114G>T (p.Ala1372Ser)
c.3695G>T
c.3256G>T (p.Ala1086Ser)
c.*1073G>T (n.*1073G>T)
c.4409G>T
c.3985G>T (p.Ala1329Ser)
c.5182G>T (p.Ala1728Ser)
c.5179G>T (p.Ala1727Ser)
c.5134G>T (p.Ala1712Ser)
c.4258G>T (p.Ala1420Ser)
c.4027G>T (p.Ala1343Ser)
gnomAD v4
10g.94293613C>ACA377640872PLCE1c.4217C>A (p.Ala1406Glu)
c.*1684C>A (n.*1684C>A)
n.1876C>A
n.560C>A
c.*425C>A (n.*425C>A)
c.4169C>A (p.Ala1390Glu)
n.9349C>A
n.2814C>A
c.5036-4766C>A (n.5036-4766C>A)
c.5093C>A (p.Ala1698Glu)
c.5141C>A (p.Ala1714Glu)
c.4115C>A (p.Ala1372Glu)
c.3696C>A
c.3257C>A (p.Ala1086Glu)
c.*1074C>A (n.*1074C>A)
c.4410C>A
c.3986C>A (p.Ala1329Glu)
c.5183C>A (p.Ala1728Glu)
c.5180C>A (p.Ala1727Glu)
c.5135C>A (p.Ala1712Glu)
c.4259C>A (p.Ala1420Glu)
c.4028C>A (p.Ala1343Glu)
10g.94293613C>GCA377640874PLCE1c.4217C>G (p.Ala1406Gly)
c.*1684C>G (n.*1684C>G)
n.1876C>G
n.560C>G
c.*425C>G (n.*425C>G)
c.4169C>G (p.Ala1390Gly)
n.9349C>G
n.2814C>G
c.5036-4766C>G (n.5036-4766C>G)
c.5093C>G (p.Ala1698Gly)
c.5141C>G (p.Ala1714Gly)
c.4115C>G (p.Ala1372Gly)
c.3696C>G
c.3257C>G (p.Ala1086Gly)
c.*1074C>G (n.*1074C>G)
c.4410C>G
c.3986C>G (p.Ala1329Gly)
c.5183C>G (p.Ala1728Gly)
c.5180C>G (p.Ala1727Gly)
c.5135C>G (p.Ala1712Gly)
c.4259C>G (p.Ala1420Gly)
c.4028C>G (p.Ala1343Gly)
10g.94293613C>TCA377640876PLCE1c.4217C>T (p.Ala1406Val)
c.*1684C>T (n.*1684C>T)
n.1876C>T
n.560C>T
c.*425C>T (n.*425C>T)
c.4169C>T (p.Ala1390Val)
n.9349C>T
n.2814C>T
c.5036-4766C>T (n.5036-4766C>T)
c.5093C>T (p.Ala1698Val)
c.5141C>T (p.Ala1714Val)
c.4115C>T (p.Ala1372Val)
c.3696C>T
c.3257C>T (p.Ala1086Val)
c.*1074C>T (n.*1074C>T)
c.4410C>T
c.3986C>T (p.Ala1329Val)
c.5183C>T (p.Ala1728Val)
c.5180C>T (p.Ala1727Val)
c.5135C>T (p.Ala1712Val)
c.4259C>T (p.Ala1420Val)
c.4028C>T (p.Ala1343Val)
gnomAD v4
10g.94293614A=CA1928996208PLCE1c.4218A= (p.Ala1406=)
c.*1685A= (n.*1685A=)
n.1877A=
n.561A=
c.*426A= (n.*426A=)
c.4170A= (p.Ala1390=)
n.9350A=
n.2815A=
c.5036-4765A= (n.5036-4765A=)
c.5094A= (p.Ala1698=)
c.5142A= (p.Ala1714=)
c.4116A= (p.Ala1372=)
c.3697A=
c.3258A= (p.Ala1086=)
c.*1075A= (n.*1075A=)
c.4411A=
c.3987A= (p.Ala1329=)
c.5184A= (p.Ala1728=)
c.5181A= (p.Ala1727=)
c.5136A= (p.Ala1712=)
c.4260A= (p.Ala1420=)
c.4029A= (p.Ala1343=)
10g.94293614A>CCA470807693PLCE1c.4218A>C (p.Ala1406=)
c.*1685A>C (n.*1685A>C)
n.1877A>C
n.561A>C
c.*426A>C (n.*426A>C)
c.4170A>C (p.Ala1390=)
n.9350A>C
n.2815A>C
c.5036-4765A>C (n.5036-4765A>C)
c.5094A>C (p.Ala1698=)
c.5142A>C (p.Ala1714=)
c.4116A>C (p.Ala1372=)
c.3697A>C
c.3258A>C (p.Ala1086=)
c.*1075A>C (n.*1075A>C)
c.4411A>C
c.3987A>C (p.Ala1329=)
c.5184A>C (p.Ala1728=)
c.5181A>C (p.Ala1727=)
c.5136A>C (p.Ala1712=)
c.4260A>C (p.Ala1420=)
c.4029A>C (p.Ala1343=)
10g.94293614A>GCA470807695PLCE1c.4218A>G (p.Ala1406=)
c.*1685A>G (n.*1685A>G)
n.1877A>G
n.561A>G
c.*426A>G (n.*426A>G)
c.4170A>G (p.Ala1390=)
n.9350A>G
n.2815A>G
c.5036-4765A>G (n.5036-4765A>G)
c.5094A>G (p.Ala1698=)
c.5142A>G (p.Ala1714=)
c.4116A>G (p.Ala1372=)
c.3697A>G
c.3258A>G (p.Ala1086=)
c.*1075A>G (n.*1075A>G)
c.4411A>G
c.3987A>G (p.Ala1329=)
c.5184A>G (p.Ala1728=)
c.5181A>G (p.Ala1727=)
c.5136A>G (p.Ala1712=)
c.4260A>G (p.Ala1420=)
c.4029A>G (p.Ala1343=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.94293614A>TCA470807697PLCE1c.4218A>T (p.Ala1406=)
c.*1685A>T (n.*1685A>T)
n.1877A>T
n.561A>T
c.*426A>T (n.*426A>T)
c.4170A>T (p.Ala1390=)
n.9350A>T
n.2815A>T
c.5036-4765A>T (n.5036-4765A>T)
c.5094A>T (p.Ala1698=)
c.5142A>T (p.Ala1714=)
c.4116A>T (p.Ala1372=)
c.3697A>T
c.3258A>T (p.Ala1086=)
c.*1075A>T (n.*1075A>T)
c.4411A>T
c.3987A>T (p.Ala1329=)
c.5184A>T (p.Ala1728=)
c.5181A>T (p.Ala1727=)
c.5136A>T (p.Ala1712=)
c.4260A>T (p.Ala1420=)
c.4029A>T (p.Ala1343=)
10g.94293615T>ACA377640879PLCE1c.4219T>A (p.Ser1407Thr)
c.*1686T>A (n.*1686T>A)
n.1878T>A
n.562T>A
c.*427T>A (n.*427T>A)
c.4171T>A (p.Ser1391Thr)
n.9351T>A
n.2816T>A
c.5036-4764T>A (n.5036-4764T>A)
c.5095T>A (p.Ser1699Thr)
c.5143T>A (p.Ser1715Thr)
c.4117T>A (p.Ser1373Thr)
c.3698T>A
c.3259T>A (p.Ser1087Thr)
c.*1076T>A (n.*1076T>A)
c.4412T>A
c.3988T>A (p.Ser1330Thr)
c.5185T>A (p.Ser1729Thr)
c.5182T>A (p.Ser1728Thr)
c.5137T>A (p.Ser1713Thr)
c.4261T>A (p.Ser1421Thr)
c.4030T>A (p.Ser1344Thr)
10g.94293615T>CCA377640882PLCE1c.4219T>C (p.Ser1407Pro)
c.*1686T>C (n.*1686T>C)
n.1878T>C
n.562T>C
c.*427T>C (n.*427T>C)
c.4171T>C (p.Ser1391Pro)
n.9351T>C
n.2816T>C
c.5036-4764T>C (n.5036-4764T>C)
c.5095T>C (p.Ser1699Pro)
c.5143T>C (p.Ser1715Pro)
c.4117T>C (p.Ser1373Pro)
c.3698T>C
c.3259T>C (p.Ser1087Pro)
c.*1076T>C (n.*1076T>C)
c.4412T>C
c.3988T>C (p.Ser1330Pro)
c.5185T>C (p.Ser1729Pro)
c.5182T>C (p.Ser1728Pro)
c.5137T>C (p.Ser1713Pro)
c.4261T>C (p.Ser1421Pro)
c.4030T>C (p.Ser1344Pro)
10g.94293615T>GCA377640880PLCE1c.4219T>G (p.Ser1407Ala)
c.*1686T>G (n.*1686T>G)
n.1878T>G
n.562T>G
c.*427T>G (n.*427T>G)
c.4171T>G (p.Ser1391Ala)
n.9351T>G
n.2816T>G
c.5036-4764T>G (n.5036-4764T>G)
c.5095T>G (p.Ser1699Ala)
c.5143T>G (p.Ser1715Ala)
c.4117T>G (p.Ser1373Ala)
c.3698T>G
c.3259T>G (p.Ser1087Ala)
c.*1076T>G (n.*1076T>G)
c.4412T>G
c.3988T>G (p.Ser1330Ala)
c.5185T>G (p.Ser1729Ala)
c.5182T>G (p.Ser1728Ala)
c.5137T>G (p.Ser1713Ala)
c.4261T>G (p.Ser1421Ala)
c.4030T>G (p.Ser1344Ala)
10g.94293616C>ACA377640884PLCE1c.4220C>A (p.Ser1407Ter)
c.*1687C>A (n.*1687C>A)
n.1879C>A
n.563C>A
c.*428C>A (n.*428C>A)
c.4172C>A (p.Ser1391Ter)
n.9352C>A
n.2817C>A
c.5036-4763C>A (n.5036-4763C>A)
c.5096C>A (p.Ser1699Ter)
c.5144C>A (p.Ser1715Ter)
c.4118C>A (p.Ser1373Ter)
c.3699C>A
c.3260C>A (p.Ser1087Ter)
c.*1077C>A (n.*1077C>A)
c.4413C>A
c.3989C>A (p.Ser1330Ter)
c.5186C>A (p.Ser1729Ter)
c.5183C>A (p.Ser1728Ter)
c.5138C>A (p.Ser1713Ter)
c.4262C>A (p.Ser1421Ter)
c.4031C>A (p.Ser1344Ter)
10g.94293616C>GCA377640886PLCE1c.4220C>G (p.Ser1407Ter)
c.*1687C>G (n.*1687C>G)
n.1879C>G
n.563C>G
c.*428C>G (n.*428C>G)
c.4172C>G (p.Ser1391Ter)
n.9352C>G
n.2817C>G
c.5036-4763C>G (n.5036-4763C>G)
c.5096C>G (p.Ser1699Ter)
c.5144C>G (p.Ser1715Ter)
c.4118C>G (p.Ser1373Ter)
c.3699C>G
c.3260C>G (p.Ser1087Ter)
c.*1077C>G (n.*1077C>G)
c.4413C>G
c.3989C>G (p.Ser1330Ter)
c.5186C>G (p.Ser1729Ter)
c.5183C>G (p.Ser1728Ter)
c.5138C>G (p.Ser1713Ter)
c.4262C>G (p.Ser1421Ter)
c.4031C>G (p.Ser1344Ter)
10g.94293616C>TCA377640888PLCE1c.4220C>T (p.Ser1407Leu)
c.*1687C>T (n.*1687C>T)
n.1879C>T
n.563C>T
c.*428C>T (n.*428C>T)
c.4172C>T (p.Ser1391Leu)
n.9352C>T
n.2817C>T
c.5036-4763C>T (n.5036-4763C>T)
c.5096C>T (p.Ser1699Leu)
c.5144C>T (p.Ser1715Leu)
c.4118C>T (p.Ser1373Leu)
c.3699C>T
c.3260C>T (p.Ser1087Leu)
c.*1077C>T (n.*1077C>T)
c.4413C>T
c.3989C>T (p.Ser1330Leu)
c.5186C>T (p.Ser1729Leu)
c.5183C>T (p.Ser1728Leu)
c.5138C>T (p.Ser1713Leu)
c.4262C>T (p.Ser1421Leu)
c.4031C>T (p.Ser1344Leu)
10g.94293617A=CA1928996209PLCE1c.4221A= (p.Ser1407=)
c.*1688A= (n.*1688A=)
n.1880A=
n.564A=
c.*429A= (n.*429A=)
c.4173A= (p.Ser1391=)
n.9353A=
n.2818A=
c.5036-4762A= (n.5036-4762A=)
c.5097A= (p.Ser1699=)
c.5145A= (p.Ser1715=)
c.4119A= (p.Ser1373=)
c.3700A=
c.3261A= (p.Ser1087=)
c.*1078A= (n.*1078A=)
c.4414A=
c.3990A= (p.Ser1330=)
c.5187A= (p.Ser1729=)
c.5184A= (p.Ser1728=)
c.5139A= (p.Ser1713=)
c.4263A= (p.Ser1421=)
c.4032A= (p.Ser1344=)
10g.94293617A>CCA470807706PLCE1c.4221A>C (p.Ser1407=)
c.*1688A>C (n.*1688A>C)
n.1880A>C
n.564A>C
c.*429A>C (n.*429A>C)
c.4173A>C (p.Ser1391=)
n.9353A>C
n.2818A>C
c.5036-4762A>C (n.5036-4762A>C)
c.5097A>C (p.Ser1699=)
c.5145A>C (p.Ser1715=)
c.4119A>C (p.Ser1373=)
c.3700A>C
c.3261A>C (p.Ser1087=)
c.*1078A>C (n.*1078A>C)
c.4414A>C
c.3990A>C (p.Ser1330=)
c.5187A>C (p.Ser1729=)
c.5184A>C (p.Ser1728=)
c.5139A>C (p.Ser1713=)
c.4263A>C (p.Ser1421=)
c.4032A>C (p.Ser1344=)
10g.94293617A>GCA470807708PLCE1c.4221A>G (p.Ser1407=)
c.*1688A>G (n.*1688A>G)
n.1880A>G
n.564A>G
c.*429A>G (n.*429A>G)
c.4173A>G (p.Ser1391=)
n.9353A>G
n.2818A>G
c.5036-4762A>G (n.5036-4762A>G)
c.5097A>G (p.Ser1699=)
c.5145A>G (p.Ser1715=)
c.4119A>G (p.Ser1373=)
c.3700A>G
c.3261A>G (p.Ser1087=)
c.*1078A>G (n.*1078A>G)
c.4414A>G
c.3990A>G (p.Ser1330=)
c.5187A>G (p.Ser1729=)
c.5184A>G (p.Ser1728=)
c.5139A>G (p.Ser1713=)
c.4263A>G (p.Ser1421=)
c.4032A>G (p.Ser1344=)
dbSNP gnomAD v4
10g.94293617A>TCA470807710PLCE1c.4221A>T (p.Ser1407=)
c.*1688A>T (n.*1688A>T)
n.1880A>T
n.564A>T
c.*429A>T (n.*429A>T)
c.4173A>T (p.Ser1391=)
n.9353A>T
n.2818A>T
c.5036-4762A>T (n.5036-4762A>T)
c.5097A>T (p.Ser1699=)
c.5145A>T (p.Ser1715=)
c.4119A>T (p.Ser1373=)
c.3700A>T
c.3261A>T (p.Ser1087=)
c.*1078A>T (n.*1078A>T)
c.4414A>T
c.3990A>T (p.Ser1330=)
c.5187A>T (p.Ser1729=)
c.5184A>T (p.Ser1728=)
c.5139A>T (p.Ser1713=)
c.4263A>T (p.Ser1421=)
c.4032A>T (p.Ser1344=)
10g.94293618T>ACA377640890PLCE1c.4222T>A (p.Phe1408Ile)
c.*1689T>A (n.*1689T>A)
n.1881T>A
n.565T>A
c.*430T>A (n.*430T>A)
c.4174T>A (p.Phe1392Ile)
n.9354T>A
n.2819T>A
c.5036-4761T>A (n.5036-4761T>A)
c.5098T>A (p.Phe1700Ile)
c.5146T>A (p.Phe1716Ile)
c.4120T>A (p.Phe1374Ile)
c.3701T>A
c.3262T>A (p.Phe1088Ile)
c.*1079T>A (n.*1079T>A)
c.4415T>A
c.3991T>A (p.Phe1331Ile)
c.5188T>A (p.Phe1730Ile)
c.5185T>A (p.Phe1729Ile)
c.5140T>A (p.Phe1714Ile)
c.4264T>A (p.Phe1422Ile)
c.4033T>A (p.Phe1345Ile)
10g.94293618T>CCA377640891PLCE1c.4222T>C (p.Phe1408Leu)
c.*1689T>C (n.*1689T>C)
n.1881T>C
n.565T>C
c.*430T>C (n.*430T>C)
c.4174T>C (p.Phe1392Leu)
n.9354T>C
n.2819T>C
c.5036-4761T>C (n.5036-4761T>C)
c.5098T>C (p.Phe1700Leu)
c.5146T>C (p.Phe1716Leu)
c.4120T>C (p.Phe1374Leu)
c.3701T>C
c.3262T>C (p.Phe1088Leu)
c.*1079T>C (n.*1079T>C)
c.4415T>C
c.3991T>C (p.Phe1331Leu)
c.5188T>C (p.Phe1730Leu)
c.5185T>C (p.Phe1729Leu)
c.5140T>C (p.Phe1714Leu)
c.4264T>C (p.Phe1422Leu)
c.4033T>C (p.Phe1345Leu)
gnomAD v4
10g.94293618T>GCA377640893PLCE1c.4222T>G (p.Phe1408Val)
c.*1689T>G (n.*1689T>G)
n.1881T>G
n.565T>G
c.*430T>G (n.*430T>G)
c.4174T>G (p.Phe1392Val)
n.9354T>G
n.2819T>G
c.5036-4761T>G (n.5036-4761T>G)
c.5098T>G (p.Phe1700Val)
c.5146T>G (p.Phe1716Val)
c.4120T>G (p.Phe1374Val)
c.3701T>G
c.3262T>G (p.Phe1088Val)
c.*1079T>G (n.*1079T>G)
c.4415T>G
c.3991T>G (p.Phe1331Val)
c.5188T>G (p.Phe1730Val)
c.5185T>G (p.Phe1729Val)
c.5140T>G (p.Phe1714Val)
c.4264T>G (p.Phe1422Val)
c.4033T>G (p.Phe1345Val)
10g.94293619T>ACA377640895PLCE1c.4223T>A (p.Phe1408Tyr)
c.*1690T>A (n.*1690T>A)
n.1882T>A
n.566T>A
c.*431T>A (n.*431T>A)
c.4175T>A (p.Phe1392Tyr)
n.9355T>A
n.2820T>A
c.5036-4760T>A (n.5036-4760T>A)
c.5099T>A (p.Phe1700Tyr)
c.5147T>A (p.Phe1716Tyr)
c.4121T>A (p.Phe1374Tyr)
c.3702T>A
c.3263T>A (p.Phe1088Tyr)
c.*1080T>A (n.*1080T>A)
c.4416T>A
c.3992T>A (p.Phe1331Tyr)
c.5189T>A (p.Phe1730Tyr)
c.5186T>A (p.Phe1729Tyr)
c.5141T>A (p.Phe1714Tyr)
c.4265T>A (p.Phe1422Tyr)
c.4034T>A (p.Phe1345Tyr)
10g.94293619T>CCA377640897PLCE1c.4223T>C (p.Phe1408Ser)
c.*1690T>C (n.*1690T>C)
n.1882T>C
n.566T>C
c.*431T>C (n.*431T>C)
c.4175T>C (p.Phe1392Ser)
n.9355T>C
n.2820T>C
c.5036-4760T>C (n.5036-4760T>C)
c.5099T>C (p.Phe1700Ser)
c.5147T>C (p.Phe1716Ser)
c.4121T>C (p.Phe1374Ser)
c.3702T>C
c.3263T>C (p.Phe1088Ser)
c.*1080T>C (n.*1080T>C)
c.4416T>C
c.3992T>C (p.Phe1331Ser)
c.5189T>C (p.Phe1730Ser)
c.5186T>C (p.Phe1729Ser)
c.5141T>C (p.Phe1714Ser)
c.4265T>C (p.Phe1422Ser)
c.4034T>C (p.Phe1345Ser)
gnomAD v4
10g.94293619T>GCA377640899PLCE1c.4223T>G (p.Phe1408Cys)
c.*1690T>G (n.*1690T>G)
n.1882T>G
n.566T>G
c.*431T>G (n.*431T>G)
c.4175T>G (p.Phe1392Cys)
n.9355T>G
n.2820T>G
c.5036-4760T>G (n.5036-4760T>G)
c.5099T>G (p.Phe1700Cys)
c.5147T>G (p.Phe1716Cys)
c.4121T>G (p.Phe1374Cys)
c.3702T>G
c.3263T>G (p.Phe1088Cys)
c.*1080T>G (n.*1080T>G)
c.4416T>G
c.3992T>G (p.Phe1331Cys)
c.5189T>G (p.Phe1730Cys)
c.5186T>G (p.Phe1729Cys)
c.5141T>G (p.Phe1714Cys)
c.4265T>G (p.Phe1422Cys)
c.4034T>G (p.Phe1345Cys)
10g.94293620T>ACA377640900PLCE1c.4224T>A (p.Phe1408Leu)
c.*1691T>A (n.*1691T>A)
n.1883T>A
n.567T>A
c.*432T>A (n.*432T>A)
c.4176T>A (p.Phe1392Leu)
n.9356T>A
n.2821T>A
c.5036-4759T>A (n.5036-4759T>A)
c.5100T>A (p.Phe1700Leu)
c.5148T>A (p.Phe1716Leu)
c.4122T>A (p.Phe1374Leu)
c.3703T>A
c.3264T>A (p.Phe1088Leu)
c.*1081T>A (n.*1081T>A)
c.4417T>A
c.3993T>A (p.Phe1331Leu)
c.5190T>A (p.Phe1730Leu)
c.5187T>A (p.Phe1729Leu)
c.5142T>A (p.Phe1714Leu)
c.4266T>A (p.Phe1422Leu)
c.4035T>A (p.Phe1345Leu)
10g.94293620T>CCA470807719PLCE1c.4224T>C (p.Phe1408=)
c.*1691T>C (n.*1691T>C)
n.1883T>C
n.567T>C
c.*432T>C (n.*432T>C)
c.4176T>C (p.Phe1392=)
n.9356T>C
n.2821T>C
c.5036-4759T>C (n.5036-4759T>C)
c.5100T>C (p.Phe1700=)
c.5148T>C (p.Phe1716=)
c.4122T>C (p.Phe1374=)
c.3703T>C
c.3264T>C (p.Phe1088=)
c.*1081T>C (n.*1081T>C)
c.4417T>C
c.3993T>C (p.Phe1331=)
c.5190T>C (p.Phe1730=)
c.5187T>C (p.Phe1729=)
c.5142T>C (p.Phe1714=)
c.4266T>C (p.Phe1422=)
c.4035T>C (p.Phe1345=)
10g.94293620T>GCA377640902PLCE1c.4224T>G (p.Phe1408Leu)
c.*1691T>G (n.*1691T>G)
n.1883T>G
n.567T>G
c.*432T>G (n.*432T>G)
c.4176T>G (p.Phe1392Leu)
n.9356T>G
n.2821T>G
c.5036-4759T>G (n.5036-4759T>G)
c.5100T>G (p.Phe1700Leu)
c.5148T>G (p.Phe1716Leu)
c.4122T>G (p.Phe1374Leu)
c.3703T>G
c.3264T>G (p.Phe1088Leu)
c.*1081T>G (n.*1081T>G)
c.4417T>G
c.3993T>G (p.Phe1331Leu)
c.5190T>G (p.Phe1730Leu)
c.5187T>G (p.Phe1729Leu)
c.5142T>G (p.Phe1714Leu)
c.4266T>G (p.Phe1422Leu)
c.4035T>G (p.Phe1345Leu)
10g.94293621A>CCA377640904PLCE1c.4225A>C (p.Asn1409His)
c.*1692A>C (n.*1692A>C)
n.1884A>C
n.568A>C
c.*433A>C (n.*433A>C)
c.4177A>C (p.Asn1393His)
n.9357A>C
n.2822A>C
c.5036-4758A>C (n.5036-4758A>C)
c.5101A>C (p.Asn1701His)
c.5149A>C (p.Asn1717His)
c.4123A>C (p.Asn1375His)
c.3704A>C
c.3265A>C (p.Asn1089His)
c.*1082A>C (n.*1082A>C)
c.4418A>C
c.3994A>C (p.Asn1332His)
c.5191A>C (p.Asn1731His)
c.5188A>C (p.Asn1730His)
c.5143A>C (p.Asn1715His)
c.4267A>C (p.Asn1423His)
c.4036A>C (p.Asn1346His)
10g.94293621A>GCA377640907PLCE1c.4225A>G (p.Asn1409Asp)
c.*1692A>G (n.*1692A>G)
n.1884A>G
n.568A>G
c.*433A>G (n.*433A>G)
c.4177A>G (p.Asn1393Asp)
n.9357A>G
n.2822A>G
c.5036-4758A>G (n.5036-4758A>G)
c.5101A>G (p.Asn1701Asp)
c.5149A>G (p.Asn1717Asp)
c.4123A>G (p.Asn1375Asp)
c.3704A>G
c.3265A>G (p.Asn1089Asp)
c.*1082A>G (n.*1082A>G)
c.4418A>G
c.3994A>G (p.Asn1332Asp)
c.5191A>G (p.Asn1731Asp)
c.5188A>G (p.Asn1730Asp)
c.5143A>G (p.Asn1715Asp)
c.4267A>G (p.Asn1423Asp)
c.4036A>G (p.Asn1346Asp)
10g.94293621A>TCA377640905PLCE1c.4225A>T (p.Asn1409Tyr)
c.*1692A>T (n.*1692A>T)
n.1884A>T
n.568A>T
c.*433A>T (n.*433A>T)
c.4177A>T (p.Asn1393Tyr)
n.9357A>T
n.2822A>T
c.5036-4758A>T (n.5036-4758A>T)
c.5101A>T (p.Asn1701Tyr)
c.5149A>T (p.Asn1717Tyr)
c.4123A>T (p.Asn1375Tyr)
c.3704A>T
c.3265A>T (p.Asn1089Tyr)
c.*1082A>T (n.*1082A>T)
c.4418A>T
c.3994A>T (p.Asn1332Tyr)
c.5191A>T (p.Asn1731Tyr)
c.5188A>T (p.Asn1730Tyr)
c.5143A>T (p.Asn1715Tyr)
c.4267A>T (p.Asn1423Tyr)
c.4036A>T (p.Asn1346Tyr)
10g.94293621_94293622insGAGTTGCA2501751156PLCE1c.4225_4226insGAGTTG (p.Asn1409delinsArgValAsp)
c.*1692_*1693insGAGTTG (n.*1692_*1693insGAGTTG)
n.1884_1885insGAGTTG
n.568_569insGAGTTG
c.*433_*434insGAGTTG (n.*433_*434insGAGTTG)
c.4177_4178insGAGTTG (p.Asn1393delinsArgValAsp)
n.9357_9358insGAGTTG
n.2822_2823insGAGTTG
c.5036-4758_5036-4757insGAGTTG (n.5036-4758_5036-4757insGAGTTG)
c.5101_5102insGAGTTG (p.Asn1701delinsArgValAsp)
c.5149_5150insGAGTTG (p.Asn1717delinsArgValAsp)
c.4123_4124insGAGTTG (p.Asn1375delinsArgValAsp)
c.3704_3705insGAGTTG
c.3265_3266insGAGTTG (p.Asn1089delinsArgValAsp)
c.*1082_*1083insGAGTTG (n.*1082_*1083insGAGTTG)
c.4418_4419insGAGTTG
c.3994_3995insGAGTTG (p.Asn1332delinsArgValAsp)
c.5191_5192insGAGTTG (p.Asn1731delinsArgValAsp)
c.5188_5189insGAGTTG (p.Asn1730delinsArgValAsp)
c.5143_5144insGAGTTG (p.Asn1715delinsArgValAsp)
c.4267_4268insGAGTTG (p.Asn1423delinsArgValAsp)
c.4036_4037insGAGTTG (p.Asn1346delinsArgValAsp)
10g.94293622A>CCA377640909PLCE1c.4226A>C (p.Asn1409Thr)
c.*1693A>C (n.*1693A>C)
n.1885A>C
n.569A>C
c.*434A>C (n.*434A>C)
c.4178A>C (p.Asn1393Thr)
n.9358A>C
n.2823A>C
c.5036-4757A>C (n.5036-4757A>C)
c.5102A>C (p.Asn1701Thr)
c.5150A>C (p.Asn1717Thr)
c.4124A>C (p.Asn1375Thr)
c.3705A>C
c.3266A>C (p.Asn1089Thr)
c.*1083A>C (n.*1083A>C)
c.4419A>C
c.3995A>C (p.Asn1332Thr)
c.5192A>C (p.Asn1731Thr)
c.5189A>C (p.Asn1730Thr)
c.5144A>C (p.Asn1715Thr)
c.4268A>C (p.Asn1423Thr)
c.4037A>C (p.Asn1346Thr)
10g.94293622A>GCA377640911PLCE1c.4226A>G (p.Asn1409Ser)
c.*1693A>G (n.*1693A>G)
n.1885A>G
n.569A>G
c.*434A>G (n.*434A>G)
c.4178A>G (p.Asn1393Ser)
n.9358A>G
n.2823A>G
c.5036-4757A>G (n.5036-4757A>G)
c.5102A>G (p.Asn1701Ser)
c.5150A>G (p.Asn1717Ser)
c.4124A>G (p.Asn1375Ser)
c.3705A>G
c.3266A>G (p.Asn1089Ser)
c.*1083A>G (n.*1083A>G)
c.4419A>G
c.3995A>G (p.Asn1332Ser)
c.5192A>G (p.Asn1731Ser)
c.5189A>G (p.Asn1730Ser)
c.5144A>G (p.Asn1715Ser)
c.4268A>G (p.Asn1423Ser)
c.4037A>G (p.Asn1346Ser)
10g.94293622A>TCA377640913PLCE1c.4226A>T (p.Asn1409Ile)
c.*1693A>T (n.*1693A>T)
n.1885A>T
n.569A>T
c.*434A>T (n.*434A>T)
c.4178A>T (p.Asn1393Ile)
n.9358A>T
n.2823A>T
c.5036-4757A>T (n.5036-4757A>T)
c.5102A>T (p.Asn1701Ile)
c.5150A>T (p.Asn1717Ile)
c.4124A>T (p.Asn1375Ile)
c.3705A>T
c.3266A>T (p.Asn1089Ile)
c.*1083A>T (n.*1083A>T)
c.4419A>T
c.3995A>T (p.Asn1332Ile)
c.5192A>T (p.Asn1731Ile)
c.5189A>T (p.Asn1730Ile)
c.5144A>T (p.Asn1715Ile)
c.4268A>T (p.Asn1423Ile)
c.4037A>T (p.Asn1346Ile)
10g.94293623C>ACA377640915PLCE1c.4227C>A (p.Asn1409Lys)
c.*1694C>A (n.*1694C>A)
n.1886C>A
n.570C>A
c.*435C>A (n.*435C>A)
c.4179C>A (p.Asn1393Lys)
n.9359C>A
n.2824C>A
c.5036-4756C>A (n.5036-4756C>A)
c.5103C>A (p.Asn1701Lys)
c.5151C>A (p.Asn1717Lys)
c.4125C>A (p.Asn1375Lys)
c.3706C>A
c.3267C>A (p.Asn1089Lys)
c.*1084C>A (n.*1084C>A)
c.4420C>A
c.3996C>A (p.Asn1332Lys)
c.5193C>A (p.Asn1731Lys)
c.5190C>A (p.Asn1730Lys)
c.5145C>A (p.Asn1715Lys)
c.4269C>A (p.Asn1423Lys)
c.4038C>A (p.Asn1346Lys)
gnomAD v4
10g.94293623C>GCA377640917PLCE1c.4227C>G (p.Asn1409Lys)
c.*1694C>G (n.*1694C>G)
n.1886C>G
n.570C>G
c.*435C>G (n.*435C>G)
c.4179C>G (p.Asn1393Lys)
n.9359C>G
n.2824C>G
c.5036-4756C>G (n.5036-4756C>G)
c.5103C>G (p.Asn1701Lys)
c.5151C>G (p.Asn1717Lys)
c.4125C>G (p.Asn1375Lys)
c.3706C>G
c.3267C>G (p.Asn1089Lys)
c.*1084C>G (n.*1084C>G)
c.4420C>G
c.3996C>G (p.Asn1332Lys)
c.5193C>G (p.Asn1731Lys)
c.5190C>G (p.Asn1730Lys)
c.5145C>G (p.Asn1715Lys)
c.4269C>G (p.Asn1423Lys)
c.4038C>G (p.Asn1346Lys)
10g.94293623C>TCA470807729PLCE1c.4227C>T (p.Asn1409=)
c.*1694C>T (n.*1694C>T)
n.1886C>T
n.570C>T
c.*435C>T (n.*435C>T)
c.4179C>T (p.Asn1393=)
n.9359C>T
n.2824C>T
c.5036-4756C>T (n.5036-4756C>T)
c.5103C>T (p.Asn1701=)
c.5151C>T (p.Asn1717=)
c.4125C>T (p.Asn1375=)
c.3706C>T
c.3267C>T (p.Asn1089=)
c.*1084C>T (n.*1084C>T)
c.4420C>T
c.3996C>T (p.Asn1332=)
c.5193C>T (p.Asn1731=)
c.5190C>T (p.Asn1730=)
c.5145C>T (p.Asn1715=)
c.4269C>T (p.Asn1423=)
c.4038C>T (p.Asn1346=)
10g.94293623_94293624delinsCACA1928996210PLCE1c.4227_4228delinsCA (p.Asn1409=)
c.*1694_*1695delinsCA (n.*1694_*1695delinsCA)
n.1886_1887delinsCA
n.570_571delinsCA
c.*435_*436delinsCA (n.*435_*436delinsCA)
c.4179_4180delinsCA (p.Asn1393=)
n.9359_9360delinsCA
n.2824_2825delinsCA
c.5036-4756_5036-4755delinsCA (n.5036-4756_5036-4755delinsCA)
c.5103_5104delinsCA (p.Asn1701=)
c.5151_5152delinsCA (p.Asn1717=)
c.4125_4126delinsCA (p.Asn1375=)
c.3706_3707delinsCA
c.3267_3268delinsCA (p.Asn1089=)
c.*1084_*1085delinsCA (n.*1084_*1085delinsCA)
c.4420_4421delinsCA
c.3996_3997delinsCA (p.Asn1332=)
c.5193_5194delinsCA (p.Asn1731=)
c.5190_5191delinsCA (p.Asn1730=)
c.5145_5146delinsCA (p.Asn1715=)
c.4269_4270delinsCA (p.Asn1423=)
c.4038_4039delinsCA (p.Asn1346=)
10g.94293624A>CCA377640919PLCE1c.4228A>C (p.Lys1410Gln)
c.*1695A>C (n.*1695A>C)
n.1887A>C
n.571A>C
c.*436A>C (n.*436A>C)
c.4180A>C (p.Lys1394Gln)
n.9360A>C
n.2825A>C
c.5036-4755A>C (n.5036-4755A>C)
c.5104A>C (p.Lys1702Gln)
c.5152A>C (p.Lys1718Gln)
c.4126A>C (p.Lys1376Gln)
c.3707A>C
c.3268A>C (p.Lys1090Gln)
c.*1085A>C (n.*1085A>C)
c.4421A>C
c.3997A>C (p.Lys1333Gln)
c.5194A>C (p.Lys1732Gln)
c.5191A>C (p.Lys1731Gln)
c.5146A>C (p.Lys1716Gln)
c.4270A>C (p.Lys1424Gln)
c.4039A>C (p.Lys1347Gln)
10g.94293624A>GCA377640921PLCE1c.4228A>G (p.Lys1410Glu)
c.*1695A>G (n.*1695A>G)
n.1887A>G
n.571A>G
c.*436A>G (n.*436A>G)
c.4180A>G (p.Lys1394Glu)
n.9360A>G
n.2825A>G
c.5036-4755A>G (n.5036-4755A>G)
c.5104A>G (p.Lys1702Glu)
c.5152A>G (p.Lys1718Glu)
c.4126A>G (p.Lys1376Glu)
c.3707A>G
c.3268A>G (p.Lys1090Glu)
c.*1085A>G (n.*1085A>G)
c.4421A>G
c.3997A>G (p.Lys1333Glu)
c.5194A>G (p.Lys1732Glu)
c.5191A>G (p.Lys1731Glu)
c.5146A>G (p.Lys1716Glu)
c.4270A>G (p.Lys1424Glu)
c.4039A>G (p.Lys1347Glu)
10g.94293624A>TCA377640923PLCE1c.4228A>T (p.Lys1410Ter)
c.*1695A>T (n.*1695A>T)
n.1887A>T
n.571A>T
c.*436A>T (n.*436A>T)
c.4180A>T (p.Lys1394Ter)
n.9360A>T
n.2825A>T
c.5036-4755A>T (n.5036-4755A>T)
c.5104A>T (p.Lys1702Ter)
c.5152A>T (p.Lys1718Ter)
c.4126A>T (p.Lys1376Ter)
c.3707A>T
c.3268A>T (p.Lys1090Ter)
c.*1085A>T (n.*1085A>T)
c.4421A>T
c.3997A>T (p.Lys1333Ter)
c.5194A>T (p.Lys1732Ter)
c.5191A>T (p.Lys1731Ter)
c.5146A>T (p.Lys1716Ter)
c.4270A>T (p.Lys1424Ter)
c.4039A>T (p.Lys1347Ter)
10g.94293627delCA5613293PLCE1c.4231del (p.Thr1411HisfsTer?)
c.*1698del (n.*1698del)
n.1890del
n.574del
c.*439del (n.*439del)
c.4183del (p.Thr1395HisfsTer?)
n.9363del
n.2828del
c.5036-4752del (n.5036-4752del)
c.5107del (p.Thr1703HisfsTer?)
c.5155del (p.Thr1719HisfsTer?)
c.4129del (p.Thr1377HisfsTer?)
c.3710del
c.3271del (p.Thr1091HisfsTer?)
c.*1088del (n.*1088del)
c.4424del
c.4000del (p.Thr1334HisfsTer?)
c.5197del (p.Thr1733HisfsTer?)
c.5194del (p.Thr1732HisfsTer?)
c.5149del (p.Thr1717HisfsTer?)
c.4273del (p.Thr1425HisfsTer?)
c.4042del (p.Thr1348HisfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94293625A>CCA377640925PLCE1c.4229A>C (p.Lys1410Thr)
c.*1696A>C (n.*1696A>C)
n.1888A>C
n.572A>C
c.*437A>C (n.*437A>C)
c.4181A>C (p.Lys1394Thr)
n.9361A>C
n.2826A>C
c.5036-4754A>C (n.5036-4754A>C)
c.5105A>C (p.Lys1702Thr)
c.5153A>C (p.Lys1718Thr)
c.4127A>C (p.Lys1376Thr)
c.3708A>C
c.3269A>C (p.Lys1090Thr)
c.*1086A>C (n.*1086A>C)
c.4422A>C
c.3998A>C (p.Lys1333Thr)
c.5195A>C (p.Lys1732Thr)
c.5192A>C (p.Lys1731Thr)
c.5147A>C (p.Lys1716Thr)
c.4271A>C (p.Lys1424Thr)
c.4040A>C (p.Lys1347Thr)
10g.94293625A>GCA377640927PLCE1c.4229A>G (p.Lys1410Arg)
c.*1696A>G (n.*1696A>G)
n.1888A>G
n.572A>G
c.*437A>G (n.*437A>G)
c.4181A>G (p.Lys1394Arg)
n.9361A>G
n.2826A>G
c.5036-4754A>G (n.5036-4754A>G)
c.5105A>G (p.Lys1702Arg)
c.5153A>G (p.Lys1718Arg)
c.4127A>G (p.Lys1376Arg)
c.3708A>G
c.3269A>G (p.Lys1090Arg)
c.*1086A>G (n.*1086A>G)
c.4422A>G
c.3998A>G (p.Lys1333Arg)
c.5195A>G (p.Lys1732Arg)
c.5192A>G (p.Lys1731Arg)
c.5147A>G (p.Lys1716Arg)
c.4271A>G (p.Lys1424Arg)
c.4040A>G (p.Lys1347Arg)
10g.94293625A>TCA377640929PLCE1c.4229A>T (p.Lys1410Ile)
c.*1696A>T (n.*1696A>T)
n.1888A>T
n.572A>T
c.*437A>T (n.*437A>T)
c.4181A>T (p.Lys1394Ile)
n.9361A>T
n.2826A>T
c.5036-4754A>T (n.5036-4754A>T)
c.5105A>T (p.Lys1702Ile)
c.5153A>T (p.Lys1718Ile)
c.4127A>T (p.Lys1376Ile)
c.3708A>T
c.3269A>T (p.Lys1090Ile)
c.*1086A>T (n.*1086A>T)
c.4422A>T
c.3998A>T (p.Lys1333Ile)
c.5195A>T (p.Lys1732Ile)
c.5192A>T (p.Lys1731Ile)
c.5147A>T (p.Lys1716Ile)
c.4271A>T (p.Lys1424Ile)
c.4040A>T (p.Lys1347Ile)
10g.94293626A>CCA377640933PLCE1c.4230A>C (p.Lys1410Asn)
c.*1697A>C (n.*1697A>C)
n.1889A>C
n.573A>C
c.*438A>C (n.*438A>C)
c.4182A>C (p.Lys1394Asn)
n.9362A>C
n.2827A>C
c.5036-4753A>C (n.5036-4753A>C)
c.5106A>C (p.Lys1702Asn)
c.5154A>C (p.Lys1718Asn)
c.4128A>C (p.Lys1376Asn)
c.3709A>C
c.3270A>C (p.Lys1090Asn)
c.*1087A>C (n.*1087A>C)
c.4423A>C
c.3999A>C (p.Lys1333Asn)
c.5196A>C (p.Lys1732Asn)
c.5193A>C (p.Lys1731Asn)
c.5148A>C (p.Lys1716Asn)
c.4272A>C (p.Lys1424Asn)
c.4041A>C (p.Lys1347Asn)
10g.94293626A>GCA470807742PLCE1c.4230A>G (p.Lys1410=)
c.*1697A>G (n.*1697A>G)
n.1889A>G
n.573A>G
c.*438A>G (n.*438A>G)
c.4182A>G (p.Lys1394=)
n.9362A>G
n.2827A>G
c.5036-4753A>G (n.5036-4753A>G)
c.5106A>G (p.Lys1702=)
c.5154A>G (p.Lys1718=)
c.4128A>G (p.Lys1376=)
c.3709A>G
c.3270A>G (p.Lys1090=)
c.*1087A>G (n.*1087A>G)
c.4423A>G
c.3999A>G (p.Lys1333=)
c.5196A>G (p.Lys1732=)
c.5193A>G (p.Lys1731=)
c.5148A>G (p.Lys1716=)
c.4272A>G (p.Lys1424=)
c.4041A>G (p.Lys1347=)
10g.94293626A>TCA377640932PLCE1c.4230A>T (p.Lys1410Asn)
c.*1697A>T (n.*1697A>T)
n.1889A>T
n.573A>T
c.*438A>T (n.*438A>T)
c.4182A>T (p.Lys1394Asn)
n.9362A>T
n.2827A>T
c.5036-4753A>T (n.5036-4753A>T)
c.5106A>T (p.Lys1702Asn)
c.5154A>T (p.Lys1718Asn)
c.4128A>T (p.Lys1376Asn)
c.3709A>T
c.3270A>T (p.Lys1090Asn)
c.*1087A>T (n.*1087A>T)
c.4423A>T
c.3999A>T (p.Lys1333Asn)
c.5196A>T (p.Lys1732Asn)
c.5193A>T (p.Lys1731Asn)
c.5148A>T (p.Lys1716Asn)
c.4272A>T (p.Lys1424Asn)
c.4041A>T (p.Lys1347Asn)
10g.94293627A>CCA377640936PLCE1c.4231A>C (p.Thr1411Pro)
c.*1698A>C (n.*1698A>C)
n.1890A>C
n.574A>C
c.*439A>C (n.*439A>C)
c.4183A>C (p.Thr1395Pro)
n.9363A>C
n.2828A>C
c.5036-4752A>C (n.5036-4752A>C)
c.5107A>C (p.Thr1703Pro)
c.5155A>C (p.Thr1719Pro)
c.4129A>C (p.Thr1377Pro)
c.3710A>C
c.3271A>C (p.Thr1091Pro)
c.*1088A>C (n.*1088A>C)
c.4424A>C
c.4000A>C (p.Thr1334Pro)
c.5197A>C (p.Thr1733Pro)
c.5194A>C (p.Thr1732Pro)
c.5149A>C (p.Thr1717Pro)
c.4273A>C (p.Thr1425Pro)
c.4042A>C (p.Thr1348Pro)
10g.94293627A>GCA377640938PLCE1c.4231A>G (p.Thr1411Ala)
c.*1698A>G (n.*1698A>G)
n.1890A>G
n.574A>G
c.*439A>G (n.*439A>G)
c.4183A>G (p.Thr1395Ala)
n.9363A>G
n.2828A>G
c.5036-4752A>G (n.5036-4752A>G)
c.5107A>G (p.Thr1703Ala)
c.5155A>G (p.Thr1719Ala)
c.4129A>G (p.Thr1377Ala)
c.3710A>G
c.3271A>G (p.Thr1091Ala)
c.*1088A>G (n.*1088A>G)
c.4424A>G
c.4000A>G (p.Thr1334Ala)
c.5197A>G (p.Thr1733Ala)
c.5194A>G (p.Thr1732Ala)
c.5149A>G (p.Thr1717Ala)
c.4273A>G (p.Thr1425Ala)
c.4042A>G (p.Thr1348Ala)
10g.94293627A>TCA377640940PLCE1c.4231A>T (p.Thr1411Ser)
c.*1698A>T (n.*1698A>T)
n.1890A>T
n.574A>T
c.*439A>T (n.*439A>T)
c.4183A>T (p.Thr1395Ser)
n.9363A>T
n.2828A>T
c.5036-4752A>T (n.5036-4752A>T)
c.5107A>T (p.Thr1703Ser)
c.5155A>T (p.Thr1719Ser)
c.4129A>T (p.Thr1377Ser)
c.3710A>T
c.3271A>T (p.Thr1091Ser)
c.*1088A>T (n.*1088A>T)
c.4424A>T
c.4000A>T (p.Thr1334Ser)
c.5197A>T (p.Thr1733Ser)
c.5194A>T (p.Thr1732Ser)
c.5149A>T (p.Thr1717Ser)
c.4273A>T (p.Thr1425Ser)
c.4042A>T (p.Thr1348Ser)
10g.94293628C>ACA377640942PLCE1c.4232C>A (p.Thr1411Lys)
c.*1699C>A (n.*1699C>A)
n.1891C>A
n.575C>A
c.*440C>A (n.*440C>A)
c.4184C>A (p.Thr1395Lys)
n.9364C>A
n.2829C>A
c.5036-4751C>A (n.5036-4751C>A)
c.5108C>A (p.Thr1703Lys)
c.5156C>A (p.Thr1719Lys)
c.4130C>A (p.Thr1377Lys)
c.3711C>A
c.3272C>A (p.Thr1091Lys)
c.*1089C>A (n.*1089C>A)
c.4425C>A
c.4001C>A (p.Thr1334Lys)
c.5198C>A (p.Thr1733Lys)
c.5195C>A (p.Thr1732Lys)
c.5150C>A (p.Thr1717Lys)
c.4274C>A (p.Thr1425Lys)
c.4043C>A (p.Thr1348Lys)
10g.94293628C>GCA377640943PLCE1c.4232C>G (p.Thr1411Arg)
c.*1699C>G (n.*1699C>G)
n.1891C>G
n.575C>G
c.*440C>G (n.*440C>G)
c.4184C>G (p.Thr1395Arg)
n.9364C>G
n.2829C>G
c.5036-4751C>G (n.5036-4751C>G)
c.5108C>G (p.Thr1703Arg)
c.5156C>G (p.Thr1719Arg)
c.4130C>G (p.Thr1377Arg)
c.3711C>G
c.3272C>G (p.Thr1091Arg)
c.*1089C>G (n.*1089C>G)
c.4425C>G
c.4001C>G (p.Thr1334Arg)
c.5198C>G (p.Thr1733Arg)
c.5195C>G (p.Thr1732Arg)
c.5150C>G (p.Thr1717Arg)
c.4274C>G (p.Thr1425Arg)
c.4043C>G (p.Thr1348Arg)
10g.94293628C>TCA377640944PLCE1c.4232C>T (p.Thr1411Ile)
c.*1699C>T (n.*1699C>T)
n.1891C>T
n.575C>T
c.*440C>T (n.*440C>T)
c.4184C>T (p.Thr1395Ile)
n.9364C>T
n.2829C>T
c.5036-4751C>T (n.5036-4751C>T)
c.5108C>T (p.Thr1703Ile)
c.5156C>T (p.Thr1719Ile)
c.4130C>T (p.Thr1377Ile)
c.3711C>T
c.3272C>T (p.Thr1091Ile)
c.*1089C>T (n.*1089C>T)
c.4425C>T
c.4001C>T (p.Thr1334Ile)
c.5198C>T (p.Thr1733Ile)
c.5195C>T (p.Thr1732Ile)
c.5150C>T (p.Thr1717Ile)
c.4274C>T (p.Thr1425Ile)
c.4043C>T (p.Thr1348Ile)
10g.94293629A>CCA470807750PLCE1c.4233A>C (p.Thr1411=)
c.*1700A>C (n.*1700A>C)
n.1892A>C
n.576A>C
c.*441A>C (n.*441A>C)
c.4185A>C (p.Thr1395=)
n.9365A>C
n.2830A>C
c.5036-4750A>C (n.5036-4750A>C)
c.5109A>C (p.Thr1703=)
c.5157A>C (p.Thr1719=)
c.4131A>C (p.Thr1377=)
c.3712A>C
c.3273A>C (p.Thr1091=)
c.*1090A>C (n.*1090A>C)
c.4426A>C
c.4002A>C (p.Thr1334=)
c.5199A>C (p.Thr1733=)
c.5196A>C (p.Thr1732=)
c.5151A>C (p.Thr1717=)
c.4275A>C (p.Thr1425=)
c.4044A>C (p.Thr1348=)
10g.94293629A>GCA470807757PLCE1c.4233A>G (p.Thr1411=)
c.*1700A>G (n.*1700A>G)
n.1892A>G
n.576A>G
c.*441A>G (n.*441A>G)
c.4185A>G (p.Thr1395=)
n.9365A>G
n.2830A>G
c.5036-4750A>G (n.5036-4750A>G)
c.5109A>G (p.Thr1703=)
c.5157A>G (p.Thr1719=)
c.4131A>G (p.Thr1377=)
c.3712A>G
c.3273A>G (p.Thr1091=)
c.*1090A>G (n.*1090A>G)
c.4426A>G
c.4002A>G (p.Thr1334=)
c.5199A>G (p.Thr1733=)
c.5196A>G (p.Thr1732=)
c.5151A>G (p.Thr1717=)
c.4275A>G (p.Thr1425=)
c.4044A>G (p.Thr1348=)
10g.94293629A>TCA470807759PLCE1c.4233A>T (p.Thr1411=)
c.*1700A>T (n.*1700A>T)
n.1892A>T
n.576A>T
c.*441A>T (n.*441A>T)
c.4185A>T (p.Thr1395=)
n.9365A>T
n.2830A>T
c.5036-4750A>T (n.5036-4750A>T)
c.5109A>T (p.Thr1703=)
c.5157A>T (p.Thr1719=)
c.4131A>T (p.Thr1377=)
c.3712A>T
c.3273A>T (p.Thr1091=)
c.*1090A>T (n.*1090A>T)
c.4426A>T
c.4002A>T (p.Thr1334=)
c.5199A>T (p.Thr1733=)
c.5196A>T (p.Thr1732=)
c.5151A>T (p.Thr1717=)
c.4275A>T (p.Thr1425=)
c.4044A>T (p.Thr1348=)
10g.94293630T>ACA377640945PLCE1c.4234T>A (p.Ser1412Thr)
c.*1701T>A (n.*1701T>A)
n.1893T>A
n.577T>A
c.*442T>A (n.*442T>A)
c.4186T>A (p.Ser1396Thr)
n.9366T>A
n.2831T>A
c.5036-4749T>A (n.5036-4749T>A)
c.5110T>A (p.Ser1704Thr)
c.5158T>A (p.Ser1720Thr)
c.4132T>A (p.Ser1378Thr)
c.3713T>A
c.3274T>A (p.Ser1092Thr)
c.*1091T>A (n.*1091T>A)
c.4427T>A
c.4003T>A (p.Ser1335Thr)
c.5200T>A (p.Ser1734Thr)
c.5197T>A (p.Ser1733Thr)
c.5152T>A (p.Ser1718Thr)
c.4276T>A (p.Ser1426Thr)
c.4045T>A (p.Ser1349Thr)
10g.94293630T>CCA377640946PLCE1c.4234T>C (p.Ser1412Pro)
c.*1701T>C (n.*1701T>C)
n.1893T>C
n.577T>C
c.*442T>C (n.*442T>C)
c.4186T>C (p.Ser1396Pro)
n.9366T>C
n.2831T>C
c.5036-4749T>C (n.5036-4749T>C)
c.5110T>C (p.Ser1704Pro)
c.5158T>C (p.Ser1720Pro)
c.4132T>C (p.Ser1378Pro)
c.3713T>C
c.3274T>C (p.Ser1092Pro)
c.*1091T>C (n.*1091T>C)
c.4427T>C
c.4003T>C (p.Ser1335Pro)
c.5200T>C (p.Ser1734Pro)
c.5197T>C (p.Ser1733Pro)
c.5152T>C (p.Ser1718Pro)
c.4276T>C (p.Ser1426Pro)
c.4045T>C (p.Ser1349Pro)
10g.94293630T>GCA377640948PLCE1c.4234T>G (p.Ser1412Ala)
c.*1701T>G (n.*1701T>G)
n.1893T>G
n.577T>G
c.*442T>G (n.*442T>G)
c.4186T>G (p.Ser1396Ala)
n.9366T>G
n.2831T>G
c.5036-4749T>G (n.5036-4749T>G)
c.5110T>G (p.Ser1704Ala)
c.5158T>G (p.Ser1720Ala)
c.4132T>G (p.Ser1378Ala)
c.3713T>G
c.3274T>G (p.Ser1092Ala)
c.*1091T>G (n.*1091T>G)
c.4427T>G
c.4003T>G (p.Ser1335Ala)
c.5200T>G (p.Ser1734Ala)
c.5197T>G (p.Ser1733Ala)
c.5152T>G (p.Ser1718Ala)
c.4276T>G (p.Ser1426Ala)
c.4045T>G (p.Ser1349Ala)
10g.94293631C>ACA377640951PLCE1c.4235C>A (p.Ser1412Tyr)
c.*1702C>A (n.*1702C>A)
n.1894C>A
n.578C>A
c.*443C>A (n.*443C>A)
c.4187C>A (p.Ser1396Tyr)
n.9367C>A
n.2832C>A
c.5036-4748C>A (n.5036-4748C>A)
c.5111C>A (p.Ser1704Tyr)
c.5159C>A (p.Ser1720Tyr)
c.4133C>A (p.Ser1378Tyr)
c.3714C>A
c.3275C>A (p.Ser1092Tyr)
c.*1092C>A (n.*1092C>A)
c.4428C>A
c.4004C>A (p.Ser1335Tyr)
c.5201C>A (p.Ser1734Tyr)
c.5198C>A (p.Ser1733Tyr)
c.5153C>A (p.Ser1718Tyr)
c.4277C>A (p.Ser1426Tyr)
c.4046C>A (p.Ser1349Tyr)
10g.94293631C>GCA377640952PLCE1c.4235C>G (p.Ser1412Cys)
c.*1702C>G (n.*1702C>G)
n.1894C>G
n.578C>G
c.*443C>G (n.*443C>G)
c.4187C>G (p.Ser1396Cys)
n.9367C>G
n.2832C>G
c.5036-4748C>G (n.5036-4748C>G)
c.5111C>G (p.Ser1704Cys)
c.5159C>G (p.Ser1720Cys)
c.4133C>G (p.Ser1378Cys)
c.3714C>G
c.3275C>G (p.Ser1092Cys)
c.*1092C>G (n.*1092C>G)
c.4428C>G
c.4004C>G (p.Ser1335Cys)
c.5201C>G (p.Ser1734Cys)
c.5198C>G (p.Ser1733Cys)
c.5153C>G (p.Ser1718Cys)
c.4277C>G (p.Ser1426Cys)
c.4046C>G (p.Ser1349Cys)
10g.94293631C>TCA377640954PLCE1c.4235C>T (p.Ser1412Phe)
c.*1702C>T (n.*1702C>T)
n.1894C>T
n.578C>T
c.*443C>T (n.*443C>T)
c.4187C>T (p.Ser1396Phe)
n.9367C>T
n.2832C>T
c.5036-4748C>T (n.5036-4748C>T)
c.5111C>T (p.Ser1704Phe)
c.5159C>T (p.Ser1720Phe)
c.4133C>T (p.Ser1378Phe)
c.3714C>T
c.3275C>T (p.Ser1092Phe)
c.*1092C>T (n.*1092C>T)
c.4428C>T
c.4004C>T (p.Ser1335Phe)
c.5201C>T (p.Ser1734Phe)
c.5198C>T (p.Ser1733Phe)
c.5153C>T (p.Ser1718Phe)
c.4277C>T (p.Ser1426Phe)
c.4046C>T (p.Ser1349Phe)
10g.94293632T>ACA470807775PLCE1c.4236T>A (p.Ser1412=)
c.*1703T>A (n.*1703T>A)
n.1895T>A
n.579T>A
c.*444T>A (n.*444T>A)
c.4188T>A (p.Ser1396=)
n.9368T>A
n.2833T>A
c.5036-4747T>A (n.5036-4747T>A)
c.5112T>A (p.Ser1704=)
c.5160T>A (p.Ser1720=)
c.4134T>A (p.Ser1378=)
c.3715T>A
c.3276T>A (p.Ser1092=)
c.*1093T>A (n.*1093T>A)
c.4429T>A
c.4005T>A (p.Ser1335=)
c.5202T>A (p.Ser1734=)
c.5199T>A (p.Ser1733=)
c.5154T>A (p.Ser1718=)
c.4278T>A (p.Ser1426=)
c.4047T>A (p.Ser1349=)
10g.94293632T>CCA470807771PLCE1c.4236T>C (p.Ser1412=)
c.*1703T>C (n.*1703T>C)
n.1895T>C
n.579T>C
c.*444T>C (n.*444T>C)
c.4188T>C (p.Ser1396=)
n.9368T>C
n.2833T>C
c.5036-4747T>C (n.5036-4747T>C)
c.5112T>C (p.Ser1704=)
c.5160T>C (p.Ser1720=)
c.4134T>C (p.Ser1378=)
c.3715T>C
c.3276T>C (p.Ser1092=)
c.*1093T>C (n.*1093T>C)
c.4429T>C
c.4005T>C (p.Ser1335=)
c.5202T>C (p.Ser1734=)
c.5199T>C (p.Ser1733=)
c.5154T>C (p.Ser1718=)
c.4278T>C (p.Ser1426=)
c.4047T>C (p.Ser1349=)
10g.94293632T>GCA470807769PLCE1c.4236T>G (p.Ser1412=)
c.*1703T>G (n.*1703T>G)
n.1895T>G
n.579T>G
c.*444T>G (n.*444T>G)
c.4188T>G (p.Ser1396=)
n.9368T>G
n.2833T>G
c.5036-4747T>G (n.5036-4747T>G)
c.5112T>G (p.Ser1704=)
c.5160T>G (p.Ser1720=)
c.4134T>G (p.Ser1378=)
c.3715T>G
c.3276T>G (p.Ser1092=)
c.*1093T>G (n.*1093T>G)
c.4429T>G
c.4005T>G (p.Ser1335=)
c.5202T>G (p.Ser1734=)
c.5199T>G (p.Ser1733=)
c.5154T>G (p.Ser1718=)
c.4278T>G (p.Ser1426=)
c.4047T>G (p.Ser1349=)
10g.94293633G>ACA377640958PLCE1c.4237G>A (p.Gly1413Arg)
c.*1704G>A (n.*1704G>A)
n.1896G>A
n.580G>A
c.*445G>A (n.*445G>A)
c.4189G>A (p.Gly1397Arg)
n.9369G>A
n.2834G>A
c.5036-4746G>A (n.5036-4746G>A)
c.5113G>A (p.Gly1705Arg)
c.5161G>A (p.Gly1721Arg)
c.4135G>A (p.Gly1379Arg)
c.3716G>A
c.3277G>A (p.Gly1093Arg)
c.*1094G>A (n.*1094G>A)
c.4430G>A
c.4006G>A (p.Gly1336Arg)
c.5203G>A (p.Gly1735Arg)
c.5200G>A (p.Gly1734Arg)
c.5155G>A (p.Gly1719Arg)
c.4279G>A (p.Gly1427Arg)
c.4048G>A (p.Gly1350Arg)
10g.94293633G>CCA377640961PLCE1c.4237G>C (p.Gly1413Arg)
c.*1704G>C (n.*1704G>C)
n.1896G>C
n.580G>C
c.*445G>C (n.*445G>C)
c.4189G>C (p.Gly1397Arg)
n.9369G>C
n.2834G>C
c.5036-4746G>C (n.5036-4746G>C)
c.5113G>C (p.Gly1705Arg)
c.5161G>C (p.Gly1721Arg)
c.4135G>C (p.Gly1379Arg)
c.3716G>C
c.3277G>C (p.Gly1093Arg)
c.*1094G>C (n.*1094G>C)
c.4430G>C
c.4006G>C (p.Gly1336Arg)
c.5203G>C (p.Gly1735Arg)
c.5200G>C (p.Gly1734Arg)
c.5155G>C (p.Gly1719Arg)
c.4279G>C (p.Gly1427Arg)
c.4048G>C (p.Gly1350Arg)
10g.94293633G>TCA377640957PLCE1c.4237G>T (p.Gly1413Ter)
c.*1704G>T (n.*1704G>T)
n.1896G>T
n.580G>T
c.*445G>T (n.*445G>T)
c.4189G>T (p.Gly1397Ter)
n.9369G>T
n.2834G>T
c.5036-4746G>T (n.5036-4746G>T)
c.5113G>T (p.Gly1705Ter)
c.5161G>T (p.Gly1721Ter)
c.4135G>T (p.Gly1379Ter)
c.3716G>T
c.3277G>T (p.Gly1093Ter)
c.*1094G>T (n.*1094G>T)
c.4430G>T
c.4006G>T (p.Gly1336Ter)
c.5203G>T (p.Gly1735Ter)
c.5200G>T (p.Gly1734Ter)
c.5155G>T (p.Gly1719Ter)
c.4279G>T (p.Gly1427Ter)
c.4048G>T (p.Gly1350Ter)
10g.94293634G>ACA377640967PLCE1c.4238G>A (p.Gly1413Glu)
c.*1705G>A (n.*1705G>A)
n.1897G>A
n.581G>A
c.*446G>A (n.*446G>A)
c.4190G>A (p.Gly1397Glu)
n.9370G>A
n.2835G>A
c.5036-4745G>A (n.5036-4745G>A)
c.5114G>A (p.Gly1705Glu)
c.5162G>A (p.Gly1721Glu)
c.4136G>A (p.Gly1379Glu)
c.3717G>A
c.3278G>A (p.Gly1093Glu)
c.*1095G>A (n.*1095G>A)
c.4431G>A
c.4007G>A (p.Gly1336Glu)
c.5204G>A (p.Gly1735Glu)
c.5201G>A (p.Gly1734Glu)
c.5156G>A (p.Gly1719Glu)
c.4280G>A (p.Gly1427Glu)
c.4049G>A (p.Gly1350Glu)
gnomAD v4
10g.94293634G>CCA377640963PLCE1c.4238G>C (p.Gly1413Ala)
c.*1705G>C (n.*1705G>C)
n.1897G>C
n.581G>C
c.*446G>C (n.*446G>C)
c.4190G>C (p.Gly1397Ala)
n.9370G>C
n.2835G>C
c.5036-4745G>C (n.5036-4745G>C)
c.5114G>C (p.Gly1705Ala)
c.5162G>C (p.Gly1721Ala)
c.4136G>C (p.Gly1379Ala)
c.3717G>C
c.3278G>C (p.Gly1093Ala)
c.*1095G>C (n.*1095G>C)
c.4431G>C
c.4007G>C (p.Gly1336Ala)
c.5204G>C (p.Gly1735Ala)
c.5201G>C (p.Gly1734Ala)
c.5156G>C (p.Gly1719Ala)
c.4280G>C (p.Gly1427Ala)
c.4049G>C (p.Gly1350Ala)
10g.94293634G>TCA377640965PLCE1c.4238G>T (p.Gly1413Val)
c.*1705G>T (n.*1705G>T)
n.1897G>T
n.581G>T
c.*446G>T (n.*446G>T)
c.4190G>T (p.Gly1397Val)
n.9370G>T
n.2835G>T
c.5036-4745G>T (n.5036-4745G>T)
c.5114G>T (p.Gly1705Val)
c.5162G>T (p.Gly1721Val)
c.4136G>T (p.Gly1379Val)
c.3717G>T
c.3278G>T (p.Gly1093Val)
c.*1095G>T (n.*1095G>T)
c.4431G>T
c.4007G>T (p.Gly1336Val)
c.5204G>T (p.Gly1735Val)
c.5201G>T (p.Gly1734Val)
c.5156G>T (p.Gly1719Val)
c.4280G>T (p.Gly1427Val)
c.4049G>T (p.Gly1350Val)
10g.94293635A>CCA470807782PLCE1c.4239A>C (p.Gly1413=)
c.*1706A>C (n.*1706A>C)
n.1898A>C
n.582A>C
c.*447A>C (n.*447A>C)
c.4191A>C (p.Gly1397=)
n.9371A>C
n.2836A>C
c.5036-4744A>C (n.5036-4744A>C)
c.5115A>C (p.Gly1705=)
c.5163A>C (p.Gly1721=)
c.4137A>C (p.Gly1379=)
c.3718A>C
c.3279A>C (p.Gly1093=)
c.*1096A>C (n.*1096A>C)
c.4432A>C
c.4008A>C (p.Gly1336=)
c.5205A>C (p.Gly1735=)
c.5202A>C (p.Gly1734=)
c.5157A>C (p.Gly1719=)
c.4281A>C (p.Gly1427=)
c.4050A>C (p.Gly1350=)
10g.94293635A>GCA470807784PLCE1c.4239A>G (p.Gly1413=)
c.*1706A>G (n.*1706A>G)
n.1898A>G
n.582A>G
c.*447A>G (n.*447A>G)
c.4191A>G (p.Gly1397=)
n.9371A>G
n.2836A>G
c.5036-4744A>G (n.5036-4744A>G)
c.5115A>G (p.Gly1705=)
c.5163A>G (p.Gly1721=)
c.4137A>G (p.Gly1379=)
c.3718A>G
c.3279A>G (p.Gly1093=)
c.*1096A>G (n.*1096A>G)
c.4432A>G
c.4008A>G (p.Gly1336=)
c.5205A>G (p.Gly1735=)
c.5202A>G (p.Gly1734=)
c.5157A>G (p.Gly1719=)
c.4281A>G (p.Gly1427=)
c.4050A>G (p.Gly1350=)
10g.94293635A>TCA470807786PLCE1c.4239A>T (p.Gly1413=)
c.*1706A>T (n.*1706A>T)
n.1898A>T
n.582A>T
c.*447A>T (n.*447A>T)
c.4191A>T (p.Gly1397=)
n.9371A>T
n.2836A>T
c.5036-4744A>T (n.5036-4744A>T)
c.5115A>T (p.Gly1705=)
c.5163A>T (p.Gly1721=)
c.4137A>T (p.Gly1379=)
c.3718A>T
c.3279A>T (p.Gly1093=)
c.*1096A>T (n.*1096A>T)
c.4432A>T
c.4008A>T (p.Gly1336=)
c.5205A>T (p.Gly1735=)
c.5202A>T (p.Gly1734=)
c.5157A>T (p.Gly1719=)
c.4281A>T (p.Gly1427=)
c.4050A>T (p.Gly1350=)
10g.94293636A=CA1928996211PLCE1c.4240A= (p.Lys1414=)
c.*1707A= (n.*1707A=)
n.1899A=
n.583A=
c.*448A= (n.*448A=)
c.4192A= (p.Lys1398=)
n.9372A=
n.2837A=
c.5036-4743A= (n.5036-4743A=)
c.5116A= (p.Lys1706=)
c.5164A= (p.Lys1722=)
c.4138A= (p.Lys1380=)
c.3719A=
c.3280A= (p.Lys1094=)
c.*1097A= (n.*1097A=)
c.4433A=
c.4009A= (p.Lys1337=)
c.5206A= (p.Lys1736=)
c.5203A= (p.Lys1735=)
c.5158A= (p.Lys1720=)
c.4282A= (p.Lys1428=)
c.4051A= (p.Lys1351=)
10g.94293636A>CCA211596369PLCE1c.4240A>C (p.Lys1414Gln)
c.*1707A>C (n.*1707A>C)
n.1899A>C
n.583A>C
c.*448A>C (n.*448A>C)
c.4192A>C (p.Lys1398Gln)
n.9372A>C
n.2837A>C
c.5036-4743A>C (n.5036-4743A>C)
c.5116A>C (p.Lys1706Gln)
c.5164A>C (p.Lys1722Gln)
c.4138A>C (p.Lys1380Gln)
c.3719A>C
c.3280A>C (p.Lys1094Gln)
c.*1097A>C (n.*1097A>C)
c.4433A>C
c.4009A>C (p.Lys1337Gln)
c.5206A>C (p.Lys1736Gln)
c.5203A>C (p.Lys1735Gln)
c.5158A>C (p.Lys1720Gln)
c.4282A>C (p.Lys1428Gln)
c.4051A>C (p.Lys1351Gln)
dbSNP
10g.94293636A>GCA377640971PLCE1c.4240A>G (p.Lys1414Glu)
c.*1707A>G (n.*1707A>G)
n.1899A>G
n.583A>G
c.*448A>G (n.*448A>G)
c.4192A>G (p.Lys1398Glu)
n.9372A>G
n.2837A>G
c.5036-4743A>G (n.5036-4743A>G)
c.5116A>G (p.Lys1706Glu)
c.5164A>G (p.Lys1722Glu)
c.4138A>G (p.Lys1380Glu)
c.3719A>G
c.3280A>G (p.Lys1094Glu)
c.*1097A>G (n.*1097A>G)
c.4433A>G
c.4009A>G (p.Lys1337Glu)
c.5206A>G (p.Lys1736Glu)
c.5203A>G (p.Lys1735Glu)
c.5158A>G (p.Lys1720Glu)
c.4282A>G (p.Lys1428Glu)
c.4051A>G (p.Lys1351Glu)
10g.94293636A>TCA377640972PLCE1c.4240A>T (p.Lys1414Ter)
c.*1707A>T (n.*1707A>T)
n.1899A>T
n.583A>T
c.*448A>T (n.*448A>T)
c.4192A>T (p.Lys1398Ter)
n.9372A>T
n.2837A>T
c.5036-4743A>T (n.5036-4743A>T)
c.5116A>T (p.Lys1706Ter)
c.5164A>T (p.Lys1722Ter)
c.4138A>T (p.Lys1380Ter)
c.3719A>T
c.3280A>T (p.Lys1094Ter)
c.*1097A>T (n.*1097A>T)
c.4433A>T
c.4009A>T (p.Lys1337Ter)
c.5206A>T (p.Lys1736Ter)
c.5203A>T (p.Lys1735Ter)
c.5158A>T (p.Lys1720Ter)
c.4282A>T (p.Lys1428Ter)
c.4051A>T (p.Lys1351Ter)
10g.94293637A>CCA377640975PLCE1c.4241A>C (p.Lys1414Thr)
c.*1708A>C (n.*1708A>C)
n.1900A>C
n.584A>C
c.*449A>C (n.*449A>C)
c.4193A>C (p.Lys1398Thr)
n.9373A>C
n.2838A>C
c.5036-4742A>C (n.5036-4742A>C)
c.5117A>C (p.Lys1706Thr)
c.5165A>C (p.Lys1722Thr)
c.4139A>C (p.Lys1380Thr)
c.3720A>C
c.3281A>C (p.Lys1094Thr)
c.*1098A>C (n.*1098A>C)
c.4434A>C
c.4010A>C (p.Lys1337Thr)
c.5207A>C (p.Lys1736Thr)
c.5204A>C (p.Lys1735Thr)
c.5159A>C (p.Lys1720Thr)
c.4283A>C (p.Lys1428Thr)
c.4052A>C (p.Lys1351Thr)
10g.94293637A>GCA377640977PLCE1c.4241A>G (p.Lys1414Arg)
c.*1708A>G (n.*1708A>G)
n.1900A>G
n.584A>G
c.*449A>G (n.*449A>G)
c.4193A>G (p.Lys1398Arg)
n.9373A>G
n.2838A>G
c.5036-4742A>G (n.5036-4742A>G)
c.5117A>G (p.Lys1706Arg)
c.5165A>G (p.Lys1722Arg)
c.4139A>G (p.Lys1380Arg)
c.3720A>G
c.3281A>G (p.Lys1094Arg)
c.*1098A>G (n.*1098A>G)
c.4434A>G
c.4010A>G (p.Lys1337Arg)
c.5207A>G (p.Lys1736Arg)
c.5204A>G (p.Lys1735Arg)
c.5159A>G (p.Lys1720Arg)
c.4283A>G (p.Lys1428Arg)
c.4052A>G (p.Lys1351Arg)
10g.94293637A>TCA377640978PLCE1c.4241A>T (p.Lys1414Ile)
c.*1708A>T (n.*1708A>T)
n.1900A>T
n.584A>T
c.*449A>T (n.*449A>T)
c.4193A>T (p.Lys1398Ile)
n.9373A>T
n.2838A>T
c.5036-4742A>T (n.5036-4742A>T)
c.5117A>T (p.Lys1706Ile)
c.5165A>T (p.Lys1722Ile)
c.4139A>T (p.Lys1380Ile)
c.3720A>T
c.3281A>T (p.Lys1094Ile)
c.*1098A>T (n.*1098A>T)
c.4434A>T
c.4010A>T (p.Lys1337Ile)
c.5207A>T (p.Lys1736Ile)
c.5204A>T (p.Lys1735Ile)
c.5159A>T (p.Lys1720Ile)
c.4283A>T (p.Lys1428Ile)
c.4052A>T (p.Lys1351Ile)
10g.94293638A>CCA377640980PLCE1c.4242A>C (p.Lys1414Asn)
c.*1709A>C (n.*1709A>C)
n.1901A>C
n.585A>C
c.*450A>C (n.*450A>C)
c.4194A>C (p.Lys1398Asn)
n.9374A>C
n.2839A>C
c.5036-4741A>C (n.5036-4741A>C)
c.5118A>C (p.Lys1706Asn)
c.5166A>C (p.Lys1722Asn)
c.4140A>C (p.Lys1380Asn)
c.3721A>C
c.3282A>C (p.Lys1094Asn)
c.*1099A>C (n.*1099A>C)
c.4435A>C
c.4011A>C (p.Lys1337Asn)
c.5208A>C (p.Lys1736Asn)
c.5205A>C (p.Lys1735Asn)
c.5160A>C (p.Lys1720Asn)
c.4284A>C (p.Lys1428Asn)
c.4053A>C (p.Lys1351Asn)
10g.94293638A>GCA470807791PLCE1c.4242A>G (p.Lys1414=)
c.*1709A>G (n.*1709A>G)
n.1901A>G
n.585A>G
c.*450A>G (n.*450A>G)
c.4194A>G (p.Lys1398=)
n.9374A>G
n.2839A>G
c.5036-4741A>G (n.5036-4741A>G)
c.5118A>G (p.Lys1706=)
c.5166A>G (p.Lys1722=)
c.4140A>G (p.Lys1380=)
c.3721A>G
c.3282A>G (p.Lys1094=)
c.*1099A>G (n.*1099A>G)
c.4435A>G
c.4011A>G (p.Lys1337=)
c.5208A>G (p.Lys1736=)
c.5205A>G (p.Lys1735=)
c.5160A>G (p.Lys1720=)
c.4284A>G (p.Lys1428=)
c.4053A>G (p.Lys1351=)
10g.94293638A>TCA377640982PLCE1c.4242A>T (p.Lys1414Asn)
c.*1709A>T (n.*1709A>T)
n.1901A>T
n.585A>T
c.*450A>T (n.*450A>T)
c.4194A>T (p.Lys1398Asn)
n.9374A>T
n.2839A>T
c.5036-4741A>T (n.5036-4741A>T)
c.5118A>T (p.Lys1706Asn)
c.5166A>T (p.Lys1722Asn)
c.4140A>T (p.Lys1380Asn)
c.3721A>T
c.3282A>T (p.Lys1094Asn)
c.*1099A>T (n.*1099A>T)
c.4435A>T
c.4011A>T (p.Lys1337Asn)
c.5208A>T (p.Lys1736Asn)
c.5205A>T (p.Lys1735Asn)
c.5160A>T (p.Lys1720Asn)
c.4284A>T (p.Lys1428Asn)
c.4053A>T (p.Lys1351Asn)
10g.94293639A>CCA377640984PLCE1c.4243A>C (p.Ser1415Arg)
c.*1710A>C (n.*1710A>C)
n.1902A>C
n.586A>C
c.*451A>C (n.*451A>C)
c.4195A>C (p.Ser1399Arg)
n.9375A>C
n.2840A>C
c.5036-4740A>C (n.5036-4740A>C)
c.5119A>C (p.Ser1707Arg)
c.5167A>C (p.Ser1723Arg)
c.4141A>C (p.Ser1381Arg)
c.3722A>C
c.3283A>C (p.Ser1095Arg)
c.*1100A>C (n.*1100A>C)
c.4436A>C
c.4012A>C (p.Ser1338Arg)
c.5209A>C (p.Ser1737Arg)
c.5206A>C (p.Ser1736Arg)
c.5161A>C (p.Ser1721Arg)
c.4285A>C (p.Ser1429Arg)
c.4054A>C (p.Ser1352Arg)
COSMIC COSMIC COSMIC
10g.94293639A>GCA377640986PLCE1c.4243A>G (p.Ser1415Gly)
c.*1710A>G (n.*1710A>G)
n.1902A>G
n.586A>G
c.*451A>G (n.*451A>G)
c.4195A>G (p.Ser1399Gly)
n.9375A>G
n.2840A>G
c.5036-4740A>G (n.5036-4740A>G)
c.5119A>G (p.Ser1707Gly)
c.5167A>G (p.Ser1723Gly)
c.4141A>G (p.Ser1381Gly)
c.3722A>G
c.3283A>G (p.Ser1095Gly)
c.*1100A>G (n.*1100A>G)
c.4436A>G
c.4012A>G (p.Ser1338Gly)
c.5209A>G (p.Ser1737Gly)
c.5206A>G (p.Ser1736Gly)
c.5161A>G (p.Ser1721Gly)
c.4285A>G (p.Ser1429Gly)
c.4054A>G (p.Ser1352Gly)
10g.94293639A>TCA377640988PLCE1c.4243A>T (p.Ser1415Cys)
c.*1710A>T (n.*1710A>T)
n.1902A>T
n.586A>T
c.*451A>T (n.*451A>T)
c.4195A>T (p.Ser1399Cys)
n.9375A>T
n.2840A>T
c.5036-4740A>T (n.5036-4740A>T)
c.5119A>T (p.Ser1707Cys)
c.5167A>T (p.Ser1723Cys)
c.4141A>T (p.Ser1381Cys)
c.3722A>T
c.3283A>T (p.Ser1095Cys)
c.*1100A>T (n.*1100A>T)
c.4436A>T
c.4012A>T (p.Ser1338Cys)
c.5209A>T (p.Ser1737Cys)
c.5206A>T (p.Ser1736Cys)
c.5161A>T (p.Ser1721Cys)
c.4285A>T (p.Ser1429Cys)
c.4054A>T (p.Ser1352Cys)

Number of alleles fetched