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)

Number of alleles fetched