Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.94298441_94298450delinsTCCCTCAGTGCA1928998395PLCE1c.4306_4315delinsTCCCTCAGTG (p.Ser1436=)
c.*1773_*1782delinsTCCCTCAGTG (n.*1773_*1782delinsTCCCTCAGTG)
n.1965_1974delinsTCCCTCAGTG
n.649_658delinsTCCCTCAGTG
c.*514_*523delinsTCCCTCAGTG (n.*514_*523delinsTCCCTCAGTG)
c.4258_4267delinsTCCCTCAGTG (p.Ser1420=)
n.9438_9447delinsTCCCTCAGTG
n.2903_2912delinsTCCCTCAGTG
c.5098_5107delinsTCCCTCAGTG (p.Ser1700=)
c.5182_5191delinsTCCCTCAGTG (p.Ser1728=)
c.5230_5239delinsTCCCTCAGTG (p.Ser1744=)
c.4204_4213delinsTCCCTCAGTG (p.Ser1402=)
c.3785_3794delinsTCCCTCAGTG
c.3346_3355delinsTCCCTCAGTG (p.Ser1116=)
c.*1163_*1172delinsTCCCTCAGTG (n.*1163_*1172delinsTCCCTCAGTG)
c.4499_4508delinsTCCCTCAGTG
c.4075_4084delinsTCCCTCAGTG (p.Ser1359=)
c.5272_5281delinsTCCCTCAGTG (p.Ser1758=)
c.5269_5278delinsTCCCTCAGTG (p.Ser1757=)
c.5224_5233delinsTCCCTCAGTG (p.Ser1742=)
c.4348_4357delinsTCCCTCAGTG (p.Ser1450=)
c.4117_4126delinsTCCCTCAGTG (p.Ser1373=)
10g.94298442C>ACA377641780PLCE1c.4307C>A (p.Ser1436Tyr)
c.*1774C>A (n.*1774C>A)
n.1966C>A
n.650C>A
c.*515C>A (n.*515C>A)
c.4259C>A (p.Ser1420Tyr)
n.9439C>A
n.2904C>A
c.5099C>A (p.Ser1700Tyr)
c.5183C>A (p.Ser1728Tyr)
c.5231C>A (p.Ser1744Tyr)
c.4205C>A (p.Ser1402Tyr)
c.3786C>A
c.3347C>A (p.Ser1116Tyr)
c.*1164C>A (n.*1164C>A)
c.4500C>A
c.4076C>A (p.Ser1359Tyr)
c.5273C>A (p.Ser1758Tyr)
c.5270C>A (p.Ser1757Tyr)
c.5225C>A (p.Ser1742Tyr)
c.4349C>A (p.Ser1450Tyr)
c.4118C>A (p.Ser1373Tyr)
dbSNP gnomAD v2 gnomAD v4
10g.94298442C=CA1928998397PLCE1c.4307C= (p.Ser1436=)
c.*1774C= (n.*1774C=)
n.1966C=
n.650C=
c.*515C= (n.*515C=)
c.4259C= (p.Ser1420=)
n.9439C=
n.2904C=
c.5099C= (p.Ser1700=)
c.5183C= (p.Ser1728=)
c.5231C= (p.Ser1744=)
c.4205C= (p.Ser1402=)
c.3786C=
c.3347C= (p.Ser1116=)
c.*1164C= (n.*1164C=)
c.4500C=
c.4076C= (p.Ser1359=)
c.5273C= (p.Ser1758=)
c.5270C= (p.Ser1757=)
c.5225C= (p.Ser1742=)
c.4349C= (p.Ser1450=)
c.4118C= (p.Ser1373=)
10g.94298442C>GCA377641781PLCE1c.4307C>G (p.Ser1436Cys)
c.*1774C>G (n.*1774C>G)
n.1966C>G
n.650C>G
c.*515C>G (n.*515C>G)
c.4259C>G (p.Ser1420Cys)
n.9439C>G
n.2904C>G
c.5099C>G (p.Ser1700Cys)
c.5183C>G (p.Ser1728Cys)
c.5231C>G (p.Ser1744Cys)
c.4205C>G (p.Ser1402Cys)
c.3786C>G
c.3347C>G (p.Ser1116Cys)
c.*1164C>G (n.*1164C>G)
c.4500C>G
c.4076C>G (p.Ser1359Cys)
c.5273C>G (p.Ser1758Cys)
c.5270C>G (p.Ser1757Cys)
c.5225C>G (p.Ser1742Cys)
c.4349C>G (p.Ser1450Cys)
c.4118C>G (p.Ser1373Cys)
10g.94298442C>TCA377641782PLCE1c.4307C>T (p.Ser1436Phe)
c.*1774C>T (n.*1774C>T)
n.1966C>T
n.650C>T
c.*515C>T (n.*515C>T)
c.4259C>T (p.Ser1420Phe)
n.9439C>T
n.2904C>T
c.5099C>T (p.Ser1700Phe)
c.5183C>T (p.Ser1728Phe)
c.5231C>T (p.Ser1744Phe)
c.4205C>T (p.Ser1402Phe)
c.3786C>T
c.3347C>T (p.Ser1116Phe)
c.*1164C>T (n.*1164C>T)
c.4500C>T
c.4076C>T (p.Ser1359Phe)
c.5273C>T (p.Ser1758Phe)
c.5270C>T (p.Ser1757Phe)
c.5225C>T (p.Ser1742Phe)
c.4349C>T (p.Ser1450Phe)
c.4118C>T (p.Ser1373Phe)
10g.94298443_94298451delCA1928998396PLCE1c.4308_4316del (p.Leu1437_Ala1439del)
c.*1775_*1783del (n.*1775_*1783del)
n.1967_1975del
n.651_659del
c.*516_*524del (n.*516_*524del)
c.4260_4268del (p.Leu1421_Ala1423del)
n.9440_9448del
n.2905_2913del
c.5100_5108del (p.Leu1701_Ala1703del)
c.5184_5192del (p.Leu1729_Ala1731del)
c.5232_5240del (p.Leu1745_Ala1747del)
c.4206_4214del (p.Leu1403_Ala1405del)
c.3787_3795del
c.3348_3356del (p.Leu1117_Ala1119del)
c.*1165_*1173del (n.*1165_*1173del)
c.4501_4509del
c.4077_4085del (p.Leu1360_Ala1362del)
c.5274_5282del (p.Leu1759_Ala1761del)
c.5271_5279del (p.Leu1758_Ala1760del)
c.5226_5234del (p.Leu1743_Ala1745del)
c.4350_4358del (p.Leu1451_Ala1453del)
c.4119_4127del (p.Leu1374_Ala1376del)
dbSNP
10g.94298443C>ACA470986451PLCE1c.4308C>A (p.Ser1436=)
c.*1775C>A (n.*1775C>A)
n.1967C>A
n.651C>A
c.*516C>A (n.*516C>A)
c.4260C>A (p.Ser1420=)
n.9440C>A
n.2905C>A
c.5100C>A (p.Ser1700=)
c.5184C>A (p.Ser1728=)
c.5232C>A (p.Ser1744=)
c.4206C>A (p.Ser1402=)
c.3787C>A
c.3348C>A (p.Ser1116=)
c.*1165C>A (n.*1165C>A)
c.4501C>A
c.4077C>A (p.Ser1359=)
c.5274C>A (p.Ser1758=)
c.5271C>A (p.Ser1757=)
c.5226C>A (p.Ser1742=)
c.4350C>A (p.Ser1450=)
c.4119C>A (p.Ser1373=)
10g.94298443C=CA1928998398PLCE1c.4308C= (p.Ser1436=)
c.*1775C= (n.*1775C=)
n.1967C=
n.651C=
c.*516C= (n.*516C=)
c.4260C= (p.Ser1420=)
n.9440C=
n.2905C=
c.5100C= (p.Ser1700=)
c.5184C= (p.Ser1728=)
c.5232C= (p.Ser1744=)
c.4206C= (p.Ser1402=)
c.3787C=
c.3348C= (p.Ser1116=)
c.*1165C= (n.*1165C=)
c.4501C=
c.4077C= (p.Ser1359=)
c.5274C= (p.Ser1758=)
c.5271C= (p.Ser1757=)
c.5226C= (p.Ser1742=)
c.4350C= (p.Ser1450=)
c.4119C= (p.Ser1373=)
10g.94298443C>GCA470986453PLCE1c.4308C>G (p.Ser1436=)
c.*1775C>G (n.*1775C>G)
n.1967C>G
n.651C>G
c.*516C>G (n.*516C>G)
c.4260C>G (p.Ser1420=)
n.9440C>G
n.2905C>G
c.5100C>G (p.Ser1700=)
c.5184C>G (p.Ser1728=)
c.5232C>G (p.Ser1744=)
c.4206C>G (p.Ser1402=)
c.3787C>G
c.3348C>G (p.Ser1116=)
c.*1165C>G (n.*1165C>G)
c.4501C>G
c.4077C>G (p.Ser1359=)
c.5274C>G (p.Ser1758=)
c.5271C>G (p.Ser1757=)
c.5226C>G (p.Ser1742=)
c.4350C>G (p.Ser1450=)
c.4119C>G (p.Ser1373=)
10g.94298443C>TCA470986452PLCE1c.4308C>T (p.Ser1436=)
c.*1775C>T (n.*1775C>T)
n.1967C>T
n.651C>T
c.*516C>T (n.*516C>T)
c.4260C>T (p.Ser1420=)
n.9440C>T
n.2905C>T
c.5100C>T (p.Ser1700=)
c.5184C>T (p.Ser1728=)
c.5232C>T (p.Ser1744=)
c.4206C>T (p.Ser1402=)
c.3787C>T
c.3348C>T (p.Ser1116=)
c.*1165C>T (n.*1165C>T)
c.4501C>T
c.4077C>T (p.Ser1359=)
c.5274C>T (p.Ser1758=)
c.5271C>T (p.Ser1757=)
c.5226C>T (p.Ser1742=)
c.4350C>T (p.Ser1450=)
c.4119C>T (p.Ser1373=)
dbSNP
10g.94298444C>ACA377641783PLCE1c.4309C>A (p.Leu1437Ile)
c.*1776C>A (n.*1776C>A)
n.1968C>A
n.652C>A
c.*517C>A (n.*517C>A)
c.4261C>A (p.Leu1421Ile)
n.9441C>A
n.2906C>A
c.5101C>A (p.Leu1701Ile)
c.5185C>A (p.Leu1729Ile)
c.5233C>A (p.Leu1745Ile)
c.4207C>A (p.Leu1403Ile)
c.3788C>A
c.3349C>A (p.Leu1117Ile)
c.*1166C>A (n.*1166C>A)
c.4502C>A
c.4078C>A (p.Leu1360Ile)
c.5275C>A (p.Leu1759Ile)
c.5272C>A (p.Leu1758Ile)
c.5227C>A (p.Leu1743Ile)
c.4351C>A (p.Leu1451Ile)
c.4120C>A (p.Leu1374Ile)
COSMIC COSMIC COSMIC COSMIC
10g.94298444C=CA1928998399PLCE1c.4309C= (p.Leu1437=)
c.*1776C= (n.*1776C=)
n.1968C=
n.652C=
c.*517C= (n.*517C=)
c.4261C= (p.Leu1421=)
n.9441C=
n.2906C=
c.5101C= (p.Leu1701=)
c.5185C= (p.Leu1729=)
c.5233C= (p.Leu1745=)
c.4207C= (p.Leu1403=)
c.3788C=
c.3349C= (p.Leu1117=)
c.*1166C= (n.*1166C=)
c.4502C=
c.4078C= (p.Leu1360=)
c.5275C= (p.Leu1759=)
c.5272C= (p.Leu1758=)
c.5227C= (p.Leu1743=)
c.4351C= (p.Leu1451=)
c.4120C= (p.Leu1374=)
10g.94298444C>GCA377641784PLCE1c.4309C>G (p.Leu1437Val)
c.*1776C>G (n.*1776C>G)
n.1968C>G
n.652C>G
c.*517C>G (n.*517C>G)
c.4261C>G (p.Leu1421Val)
n.9441C>G
n.2906C>G
c.5101C>G (p.Leu1701Val)
c.5185C>G (p.Leu1729Val)
c.5233C>G (p.Leu1745Val)
c.4207C>G (p.Leu1403Val)
c.3788C>G
c.3349C>G (p.Leu1117Val)
c.*1166C>G (n.*1166C>G)
c.4502C>G
c.4078C>G (p.Leu1360Val)
c.5275C>G (p.Leu1759Val)
c.5272C>G (p.Leu1758Val)
c.5227C>G (p.Leu1743Val)
c.4351C>G (p.Leu1451Val)
c.4120C>G (p.Leu1374Val)
10g.94298444C>TCA377641785PLCE1c.4309C>T (p.Leu1437Phe)
c.*1776C>T (n.*1776C>T)
n.1968C>T
n.652C>T
c.*517C>T (n.*517C>T)
c.4261C>T (p.Leu1421Phe)
n.9441C>T
n.2906C>T
c.5101C>T (p.Leu1701Phe)
c.5185C>T (p.Leu1729Phe)
c.5233C>T (p.Leu1745Phe)
c.4207C>T (p.Leu1403Phe)
c.3788C>T
c.3349C>T (p.Leu1117Phe)
c.*1166C>T (n.*1166C>T)
c.4502C>T
c.4078C>T (p.Leu1360Phe)
c.5275C>T (p.Leu1759Phe)
c.5272C>T (p.Leu1758Phe)
c.5227C>T (p.Leu1743Phe)
c.4351C>T (p.Leu1451Phe)
c.4120C>T (p.Leu1374Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.94298445T>ACA377641786PLCE1c.4310T>A (p.Leu1437His)
c.*1777T>A (n.*1777T>A)
n.1969T>A
n.653T>A
c.*518T>A (n.*518T>A)
c.4262T>A (p.Leu1421His)
n.9442T>A
n.2907T>A
c.5102T>A (p.Leu1701His)
c.5186T>A (p.Leu1729His)
c.5234T>A (p.Leu1745His)
c.4208T>A (p.Leu1403His)
c.3789T>A
c.3350T>A (p.Leu1117His)
c.*1167T>A (n.*1167T>A)
c.4503T>A
c.4079T>A (p.Leu1360His)
c.5276T>A (p.Leu1759His)
c.5273T>A (p.Leu1758His)
c.5228T>A (p.Leu1743His)
c.4352T>A (p.Leu1451His)
c.4121T>A (p.Leu1374His)
10g.94298445T>CCA377641787PLCE1c.4310T>C (p.Leu1437Pro)
c.*1777T>C (n.*1777T>C)
n.1969T>C
n.653T>C
c.*518T>C (n.*518T>C)
c.4262T>C (p.Leu1421Pro)
n.9442T>C
n.2907T>C
c.5102T>C (p.Leu1701Pro)
c.5186T>C (p.Leu1729Pro)
c.5234T>C (p.Leu1745Pro)
c.4208T>C (p.Leu1403Pro)
c.3789T>C
c.3350T>C (p.Leu1117Pro)
c.*1167T>C (n.*1167T>C)
c.4503T>C
c.4079T>C (p.Leu1360Pro)
c.5276T>C (p.Leu1759Pro)
c.5273T>C (p.Leu1758Pro)
c.5228T>C (p.Leu1743Pro)
c.4352T>C (p.Leu1451Pro)
c.4121T>C (p.Leu1374Pro)
10g.94298445T>GCA377641788PLCE1c.4310T>G (p.Leu1437Arg)
c.*1777T>G (n.*1777T>G)
n.1969T>G
n.653T>G
c.*518T>G (n.*518T>G)
c.4262T>G (p.Leu1421Arg)
n.9442T>G
n.2907T>G
c.5102T>G (p.Leu1701Arg)
c.5186T>G (p.Leu1729Arg)
c.5234T>G (p.Leu1745Arg)
c.4208T>G (p.Leu1403Arg)
c.3789T>G
c.3350T>G (p.Leu1117Arg)
c.*1167T>G (n.*1167T>G)
c.4503T>G
c.4079T>G (p.Leu1360Arg)
c.5276T>G (p.Leu1759Arg)
c.5273T>G (p.Leu1758Arg)
c.5228T>G (p.Leu1743Arg)
c.4352T>G (p.Leu1451Arg)
c.4121T>G (p.Leu1374Arg)
10g.94298446C>ACA470986454PLCE1c.4311C>A (p.Leu1437=)
c.*1778C>A (n.*1778C>A)
n.1970C>A
n.654C>A
c.*519C>A (n.*519C>A)
c.4263C>A (p.Leu1421=)
n.9443C>A
n.2908C>A
c.5103C>A (p.Leu1701=)
c.5187C>A (p.Leu1729=)
c.5235C>A (p.Leu1745=)
c.4209C>A (p.Leu1403=)
c.3790C>A
c.3351C>A (p.Leu1117=)
c.*1168C>A (n.*1168C>A)
c.4504C>A
c.4080C>A (p.Leu1360=)
c.5277C>A (p.Leu1759=)
c.5274C>A (p.Leu1758=)
c.5229C>A (p.Leu1743=)
c.4353C>A (p.Leu1451=)
c.4122C>A (p.Leu1374=)
10g.94298446C>GCA470986455PLCE1c.4311C>G (p.Leu1437=)
c.*1778C>G (n.*1778C>G)
n.1970C>G
n.654C>G
c.*519C>G (n.*519C>G)
c.4263C>G (p.Leu1421=)
n.9443C>G
n.2908C>G
c.5103C>G (p.Leu1701=)
c.5187C>G (p.Leu1729=)
c.5235C>G (p.Leu1745=)
c.4209C>G (p.Leu1403=)
c.3790C>G
c.3351C>G (p.Leu1117=)
c.*1168C>G (n.*1168C>G)
c.4504C>G
c.4080C>G (p.Leu1360=)
c.5277C>G (p.Leu1759=)
c.5274C>G (p.Leu1758=)
c.5229C>G (p.Leu1743=)
c.4353C>G (p.Leu1451=)
c.4122C>G (p.Leu1374=)
10g.94298446C>TCA470986456PLCE1c.4311C>T (p.Leu1437=)
c.*1778C>T (n.*1778C>T)
n.1970C>T
n.654C>T
c.*519C>T (n.*519C>T)
c.4263C>T (p.Leu1421=)
n.9443C>T
n.2908C>T
c.5103C>T (p.Leu1701=)
c.5187C>T (p.Leu1729=)
c.5235C>T (p.Leu1745=)
c.4209C>T (p.Leu1403=)
c.3790C>T
c.3351C>T (p.Leu1117=)
c.*1168C>T (n.*1168C>T)
c.4504C>T
c.4080C>T (p.Leu1360=)
c.5277C>T (p.Leu1759=)
c.5274C>T (p.Leu1758=)
c.5229C>T (p.Leu1743=)
c.4353C>T (p.Leu1451=)
c.4122C>T (p.Leu1374=)
10g.94298447A>CCA377641789PLCE1c.4312A>C (p.Ser1438Arg)
c.*1779A>C (n.*1779A>C)
n.1971A>C
n.655A>C
c.*520A>C (n.*520A>C)
c.4264A>C (p.Ser1422Arg)
n.9444A>C
n.2909A>C
c.5104A>C (p.Ser1702Arg)
c.5188A>C (p.Ser1730Arg)
c.5236A>C (p.Ser1746Arg)
c.4210A>C (p.Ser1404Arg)
c.3791A>C
c.3352A>C (p.Ser1118Arg)
c.*1169A>C (n.*1169A>C)
c.4505A>C
c.4081A>C (p.Ser1361Arg)
c.5278A>C (p.Ser1760Arg)
c.5275A>C (p.Ser1759Arg)
c.5230A>C (p.Ser1744Arg)
c.4354A>C (p.Ser1452Arg)
c.4123A>C (p.Ser1375Arg)
10g.94298447A>GCA377641790PLCE1c.4312A>G (p.Ser1438Gly)
c.*1779A>G (n.*1779A>G)
n.1971A>G
n.655A>G
c.*520A>G (n.*520A>G)
c.4264A>G (p.Ser1422Gly)
n.9444A>G
n.2909A>G
c.5104A>G (p.Ser1702Gly)
c.5188A>G (p.Ser1730Gly)
c.5236A>G (p.Ser1746Gly)
c.4210A>G (p.Ser1404Gly)
c.3791A>G
c.3352A>G (p.Ser1118Gly)
c.*1169A>G (n.*1169A>G)
c.4505A>G
c.4081A>G (p.Ser1361Gly)
c.5278A>G (p.Ser1760Gly)
c.5275A>G (p.Ser1759Gly)
c.5230A>G (p.Ser1744Gly)
c.4354A>G (p.Ser1452Gly)
c.4123A>G (p.Ser1375Gly)
10g.94298447A>TCA377641791PLCE1c.4312A>T (p.Ser1438Cys)
c.*1779A>T (n.*1779A>T)
n.1971A>T
n.655A>T
c.*520A>T (n.*520A>T)
c.4264A>T (p.Ser1422Cys)
n.9444A>T
n.2909A>T
c.5104A>T (p.Ser1702Cys)
c.5188A>T (p.Ser1730Cys)
c.5236A>T (p.Ser1746Cys)
c.4210A>T (p.Ser1404Cys)
c.3791A>T
c.3352A>T (p.Ser1118Cys)
c.*1169A>T (n.*1169A>T)
c.4505A>T
c.4081A>T (p.Ser1361Cys)
c.5278A>T (p.Ser1760Cys)
c.5275A>T (p.Ser1759Cys)
c.5230A>T (p.Ser1744Cys)
c.4354A>T (p.Ser1452Cys)
c.4123A>T (p.Ser1375Cys)
10g.94298448G>ACA377641793PLCE1c.4313G>A (p.Ser1438Asn)
c.*1780G>A (n.*1780G>A)
n.1972G>A
n.656G>A
c.*521G>A (n.*521G>A)
c.4265G>A (p.Ser1422Asn)
n.9445G>A
n.2910G>A
c.5105G>A (p.Ser1702Asn)
c.5189G>A (p.Ser1730Asn)
c.5237G>A (p.Ser1746Asn)
c.4211G>A (p.Ser1404Asn)
c.3792G>A
c.3353G>A (p.Ser1118Asn)
c.*1170G>A (n.*1170G>A)
c.4506G>A
c.4082G>A (p.Ser1361Asn)
c.5279G>A (p.Ser1760Asn)
c.5276G>A (p.Ser1759Asn)
c.5231G>A (p.Ser1744Asn)
c.4355G>A (p.Ser1452Asn)
c.4124G>A (p.Ser1375Asn)
10g.94298448G>CCA377641794PLCE1c.4313G>C (p.Ser1438Thr)
c.*1780G>C (n.*1780G>C)
n.1972G>C
n.656G>C
c.*521G>C (n.*521G>C)
c.4265G>C (p.Ser1422Thr)
n.9445G>C
n.2910G>C
c.5105G>C (p.Ser1702Thr)
c.5189G>C (p.Ser1730Thr)
c.5237G>C (p.Ser1746Thr)
c.4211G>C (p.Ser1404Thr)
c.3792G>C
c.3353G>C (p.Ser1118Thr)
c.*1170G>C (n.*1170G>C)
c.4506G>C
c.4082G>C (p.Ser1361Thr)
c.5279G>C (p.Ser1760Thr)
c.5276G>C (p.Ser1759Thr)
c.5231G>C (p.Ser1744Thr)
c.4355G>C (p.Ser1452Thr)
c.4124G>C (p.Ser1375Thr)
10g.94298448G>TCA377641792PLCE1c.4313G>T (p.Ser1438Ile)
c.*1780G>T (n.*1780G>T)
n.1972G>T
n.656G>T
c.*521G>T (n.*521G>T)
c.4265G>T (p.Ser1422Ile)
n.9445G>T
n.2910G>T
c.5105G>T (p.Ser1702Ile)
c.5189G>T (p.Ser1730Ile)
c.5237G>T (p.Ser1746Ile)
c.4211G>T (p.Ser1404Ile)
c.3792G>T
c.3353G>T (p.Ser1118Ile)
c.*1170G>T (n.*1170G>T)
c.4506G>T
c.4082G>T (p.Ser1361Ile)
c.5279G>T (p.Ser1760Ile)
c.5276G>T (p.Ser1759Ile)
c.5231G>T (p.Ser1744Ile)
c.4355G>T (p.Ser1452Ile)
c.4124G>T (p.Ser1375Ile)
10g.94298449T>ACA377641795PLCE1c.4314T>A (p.Ser1438Arg)
c.*1781T>A (n.*1781T>A)
n.1973T>A
n.657T>A
c.*522T>A (n.*522T>A)
c.4266T>A (p.Ser1422Arg)
n.9446T>A
n.2911T>A
c.5106T>A (p.Ser1702Arg)
c.5190T>A (p.Ser1730Arg)
c.5238T>A (p.Ser1746Arg)
c.4212T>A (p.Ser1404Arg)
c.3793T>A
c.3354T>A (p.Ser1118Arg)
c.*1171T>A (n.*1171T>A)
c.4507T>A
c.4083T>A (p.Ser1361Arg)
c.5280T>A (p.Ser1760Arg)
c.5277T>A (p.Ser1759Arg)
c.5232T>A (p.Ser1744Arg)
c.4356T>A (p.Ser1452Arg)
c.4125T>A (p.Ser1375Arg)
10g.94298449T>CCA470986460PLCE1c.4314T>C (p.Ser1438=)
c.*1781T>C (n.*1781T>C)
n.1973T>C
n.657T>C
c.*522T>C (n.*522T>C)
c.4266T>C (p.Ser1422=)
n.9446T>C
n.2911T>C
c.5106T>C (p.Ser1702=)
c.5190T>C (p.Ser1730=)
c.5238T>C (p.Ser1746=)
c.4212T>C (p.Ser1404=)
c.3793T>C
c.3354T>C (p.Ser1118=)
c.*1171T>C (n.*1171T>C)
c.4507T>C
c.4083T>C (p.Ser1361=)
c.5280T>C (p.Ser1760=)
c.5277T>C (p.Ser1759=)
c.5232T>C (p.Ser1744=)
c.4356T>C (p.Ser1452=)
c.4125T>C (p.Ser1375=)
10g.94298449T>GCA377641796PLCE1c.4314T>G (p.Ser1438Arg)
c.*1781T>G (n.*1781T>G)
n.1973T>G
n.657T>G
c.*522T>G (n.*522T>G)
c.4266T>G (p.Ser1422Arg)
n.9446T>G
n.2911T>G
c.5106T>G (p.Ser1702Arg)
c.5190T>G (p.Ser1730Arg)
c.5238T>G (p.Ser1746Arg)
c.4212T>G (p.Ser1404Arg)
c.3793T>G
c.3354T>G (p.Ser1118Arg)
c.*1171T>G (n.*1171T>G)
c.4507T>G
c.4083T>G (p.Ser1361Arg)
c.5280T>G (p.Ser1760Arg)
c.5277T>G (p.Ser1759Arg)
c.5232T>G (p.Ser1744Arg)
c.4356T>G (p.Ser1452Arg)
c.4125T>G (p.Ser1375Arg)
10g.94298450G>ACA377641797PLCE1c.4315G>A (p.Ala1439Thr)
c.*1782G>A (n.*1782G>A)
n.1974G>A
n.658G>A
c.*523G>A (n.*523G>A)
c.4267G>A (p.Ala1423Thr)
n.9447G>A
n.2912G>A
c.5107G>A (p.Ala1703Thr)
c.5191G>A (p.Ala1731Thr)
c.5239G>A (p.Ala1747Thr)
c.4213G>A (p.Ala1405Thr)
c.3794G>A
c.3355G>A (p.Ala1119Thr)
c.*1172G>A (n.*1172G>A)
c.4508G>A
c.4084G>A (p.Ala1362Thr)
c.5281G>A (p.Ala1761Thr)
c.5278G>A (p.Ala1760Thr)
c.5233G>A (p.Ala1745Thr)
c.4357G>A (p.Ala1453Thr)
c.4126G>A (p.Ala1376Thr)
10g.94298450G>CCA377641798PLCE1c.4315G>C (p.Ala1439Pro)
c.*1782G>C (n.*1782G>C)
n.1974G>C
n.658G>C
c.*523G>C (n.*523G>C)
c.4267G>C (p.Ala1423Pro)
n.9447G>C
n.2912G>C
c.5107G>C (p.Ala1703Pro)
c.5191G>C (p.Ala1731Pro)
c.5239G>C (p.Ala1747Pro)
c.4213G>C (p.Ala1405Pro)
c.3794G>C
c.3355G>C (p.Ala1119Pro)
c.*1172G>C (n.*1172G>C)
c.4508G>C
c.4084G>C (p.Ala1362Pro)
c.5281G>C (p.Ala1761Pro)
c.5278G>C (p.Ala1760Pro)
c.5233G>C (p.Ala1745Pro)
c.4357G>C (p.Ala1453Pro)
c.4126G>C (p.Ala1376Pro)
10g.94298450G>TCA377641799PLCE1c.4315G>T (p.Ala1439Ser)
c.*1782G>T (n.*1782G>T)
n.1974G>T
n.658G>T
c.*523G>T (n.*523G>T)
c.4267G>T (p.Ala1423Ser)
n.9447G>T
n.2912G>T
c.5107G>T (p.Ala1703Ser)
c.5191G>T (p.Ala1731Ser)
c.5239G>T (p.Ala1747Ser)
c.4213G>T (p.Ala1405Ser)
c.3794G>T
c.3355G>T (p.Ala1119Ser)
c.*1172G>T (n.*1172G>T)
c.4508G>T
c.4084G>T (p.Ala1362Ser)
c.5281G>T (p.Ala1761Ser)
c.5278G>T (p.Ala1760Ser)
c.5233G>T (p.Ala1745Ser)
c.4357G>T (p.Ala1453Ser)
c.4126G>T (p.Ala1376Ser)
10g.94298451C>ACA377641800PLCE1c.4316C>A (p.Ala1439Asp)
c.*1783C>A (n.*1783C>A)
n.1975C>A
n.659C>A
c.*524C>A (n.*524C>A)
c.4268C>A (p.Ala1423Asp)
n.9448C>A
n.2913C>A
c.5108C>A (p.Ala1703Asp)
c.5192C>A (p.Ala1731Asp)
c.5240C>A (p.Ala1747Asp)
c.4214C>A (p.Ala1405Asp)
c.3795C>A
c.3356C>A (p.Ala1119Asp)
c.*1173C>A (n.*1173C>A)
c.4509C>A
c.4085C>A (p.Ala1362Asp)
c.5282C>A (p.Ala1761Asp)
c.5279C>A (p.Ala1760Asp)
c.5234C>A (p.Ala1745Asp)
c.4358C>A (p.Ala1453Asp)
c.4127C>A (p.Ala1376Asp)
10g.94298451C=CA1928998400PLCE1c.4316C= (p.Ala1439=)
c.*1783C= (n.*1783C=)
n.1975C=
n.659C=
c.*524C= (n.*524C=)
c.4268C= (p.Ala1423=)
n.9448C=
n.2913C=
c.5108C= (p.Ala1703=)
c.5192C= (p.Ala1731=)
c.5240C= (p.Ala1747=)
c.4214C= (p.Ala1405=)
c.3795C=
c.3356C= (p.Ala1119=)
c.*1173C= (n.*1173C=)
c.4509C=
c.4085C= (p.Ala1362=)
c.5282C= (p.Ala1761=)
c.5279C= (p.Ala1760=)
c.5234C= (p.Ala1745=)
c.4358C= (p.Ala1453=)
c.4127C= (p.Ala1376=)
10g.94298451C>GCA377641801PLCE1c.4316C>G (p.Ala1439Gly)
c.*1783C>G (n.*1783C>G)
n.1975C>G
n.659C>G
c.*524C>G (n.*524C>G)
c.4268C>G (p.Ala1423Gly)
n.9448C>G
n.2913C>G
c.5108C>G (p.Ala1703Gly)
c.5192C>G (p.Ala1731Gly)
c.5240C>G (p.Ala1747Gly)
c.4214C>G (p.Ala1405Gly)
c.3795C>G
c.3356C>G (p.Ala1119Gly)
c.*1173C>G (n.*1173C>G)
c.4509C>G
c.4085C>G (p.Ala1362Gly)
c.5282C>G (p.Ala1761Gly)
c.5279C>G (p.Ala1760Gly)
c.5234C>G (p.Ala1745Gly)
c.4358C>G (p.Ala1453Gly)
c.4127C>G (p.Ala1376Gly)
dbSNP gnomAD v3 gnomAD v4
10g.94298451C>TCA377641802PLCE1c.4316C>T (p.Ala1439Val)
c.*1783C>T (n.*1783C>T)
n.1975C>T
n.659C>T
c.*524C>T (n.*524C>T)
c.4268C>T (p.Ala1423Val)
n.9448C>T
n.2913C>T
c.5108C>T (p.Ala1703Val)
c.5192C>T (p.Ala1731Val)
c.5240C>T (p.Ala1747Val)
c.4214C>T (p.Ala1405Val)
c.3795C>T
c.3356C>T (p.Ala1119Val)
c.*1173C>T (n.*1173C>T)
c.4509C>T
c.4085C>T (p.Ala1362Val)
c.5282C>T (p.Ala1761Val)
c.5279C>T (p.Ala1760Val)
c.5234C>T (p.Ala1745Val)
c.4358C>T (p.Ala1453Val)
c.4127C>T (p.Ala1376Val)
dbSNP gnomAD v4
10g.94298452T>ACA211599625PLCE1c.4317T>A (p.Ala1439=)
c.*1784T>A (n.*1784T>A)
n.1976T>A
n.660T>A
c.*525T>A (n.*525T>A)
c.4269T>A (p.Ala1423=)
n.9449T>A
n.2914T>A
c.5109T>A (p.Ala1703=)
c.5193T>A (p.Ala1731=)
c.5241T>A (p.Ala1747=)
c.4215T>A (p.Ala1405=)
c.3796T>A
c.3357T>A (p.Ala1119=)
c.*1174T>A (n.*1174T>A)
c.4510T>A
c.4086T>A (p.Ala1362=)
c.5283T>A (p.Ala1761=)
c.5280T>A (p.Ala1760=)
c.5235T>A (p.Ala1745=)
c.4359T>A (p.Ala1453=)
c.4128T>A (p.Ala1376=)
dbSNP gnomAD v3 gnomAD v4
10g.94298452T>CCA470986462PLCE1c.4317T>C (p.Ala1439=)
c.*1784T>C (n.*1784T>C)
n.1976T>C
n.660T>C
c.*525T>C (n.*525T>C)
c.4269T>C (p.Ala1423=)
n.9449T>C
n.2914T>C
c.5109T>C (p.Ala1703=)
c.5193T>C (p.Ala1731=)
c.5241T>C (p.Ala1747=)
c.4215T>C (p.Ala1405=)
c.3796T>C
c.3357T>C (p.Ala1119=)
c.*1174T>C (n.*1174T>C)
c.4510T>C
c.4086T>C (p.Ala1362=)
c.5283T>C (p.Ala1761=)
c.5280T>C (p.Ala1760=)
c.5235T>C (p.Ala1745=)
c.4359T>C (p.Ala1453=)
c.4128T>C (p.Ala1376=)
10g.94298452T>GCA470986461PLCE1c.4317T>G (p.Ala1439=)
c.*1784T>G (n.*1784T>G)
n.1976T>G
n.660T>G
c.*525T>G (n.*525T>G)
c.4269T>G (p.Ala1423=)
n.9449T>G
n.2914T>G
c.5109T>G (p.Ala1703=)
c.5193T>G (p.Ala1731=)
c.5241T>G (p.Ala1747=)
c.4215T>G (p.Ala1405=)
c.3796T>G
c.3357T>G (p.Ala1119=)
c.*1174T>G (n.*1174T>G)
c.4510T>G
c.4086T>G (p.Ala1362=)
c.5283T>G (p.Ala1761=)
c.5280T>G (p.Ala1760=)
c.5235T>G (p.Ala1745=)
c.4359T>G (p.Ala1453=)
c.4128T>G (p.Ala1376=)
10g.94298452T=CA1928998401PLCE1c.4317T= (p.Ala1439=)
c.*1784T= (n.*1784T=)
n.1976T=
n.660T=
c.*525T= (n.*525T=)
c.4269T= (p.Ala1423=)
n.9449T=
n.2914T=
c.5109T= (p.Ala1703=)
c.5193T= (p.Ala1731=)
c.5241T= (p.Ala1747=)
c.4215T= (p.Ala1405=)
c.3796T=
c.3357T= (p.Ala1119=)
c.*1174T= (n.*1174T=)
c.4510T=
c.4086T= (p.Ala1362=)
c.5283T= (p.Ala1761=)
c.5280T= (p.Ala1760=)
c.5235T= (p.Ala1745=)
c.4359T= (p.Ala1453=)
c.4128T= (p.Ala1376=)
10g.94298453A>CCA377641803PLCE1c.4318A>C (p.Ile1440Leu)
c.*1785A>C (n.*1785A>C)
n.1977A>C
n.661A>C
c.*526A>C (n.*526A>C)
c.4270A>C (p.Ile1424Leu)
n.9450A>C
n.2915A>C
c.5110A>C (p.Ile1704Leu)
c.5194A>C (p.Ile1732Leu)
c.5242A>C (p.Ile1748Leu)
c.4216A>C (p.Ile1406Leu)
c.3797A>C
c.3358A>C (p.Ile1120Leu)
c.*1175A>C (n.*1175A>C)
c.4511A>C
c.4087A>C (p.Ile1363Leu)
c.5284A>C (p.Ile1762Leu)
c.5281A>C (p.Ile1761Leu)
c.5236A>C (p.Ile1746Leu)
c.4360A>C (p.Ile1454Leu)
c.4129A>C (p.Ile1377Leu)
10g.94298453A>GCA377641804PLCE1c.4318A>G (p.Ile1440Val)
c.*1785A>G (n.*1785A>G)
n.1977A>G
n.661A>G
c.*526A>G (n.*526A>G)
c.4270A>G (p.Ile1424Val)
n.9450A>G
n.2915A>G
c.5110A>G (p.Ile1704Val)
c.5194A>G (p.Ile1732Val)
c.5242A>G (p.Ile1748Val)
c.4216A>G (p.Ile1406Val)
c.3797A>G
c.3358A>G (p.Ile1120Val)
c.*1175A>G (n.*1175A>G)
c.4511A>G
c.4087A>G (p.Ile1363Val)
c.5284A>G (p.Ile1762Val)
c.5281A>G (p.Ile1761Val)
c.5236A>G (p.Ile1746Val)
c.4360A>G (p.Ile1454Val)
c.4129A>G (p.Ile1377Val)
gnomAD v4
10g.94298453A>TCA377641805PLCE1c.4318A>T (p.Ile1440Phe)
c.*1785A>T (n.*1785A>T)
n.1977A>T
n.661A>T
c.*526A>T (n.*526A>T)
c.4270A>T (p.Ile1424Phe)
n.9450A>T
n.2915A>T
c.5110A>T (p.Ile1704Phe)
c.5194A>T (p.Ile1732Phe)
c.5242A>T (p.Ile1748Phe)
c.4216A>T (p.Ile1406Phe)
c.3797A>T
c.3358A>T (p.Ile1120Phe)
c.*1175A>T (n.*1175A>T)
c.4511A>T
c.4087A>T (p.Ile1363Phe)
c.5284A>T (p.Ile1762Phe)
c.5281A>T (p.Ile1761Phe)
c.5236A>T (p.Ile1746Phe)
c.4360A>T (p.Ile1454Phe)
c.4129A>T (p.Ile1377Phe)
10g.94298454T>ACA377641806PLCE1c.4319T>A (p.Ile1440Asn)
c.*1786T>A (n.*1786T>A)
n.1978T>A
n.662T>A
c.*527T>A (n.*527T>A)
c.4271T>A (p.Ile1424Asn)
n.9451T>A
n.2916T>A
c.5111T>A (p.Ile1704Asn)
c.5195T>A (p.Ile1732Asn)
c.5243T>A (p.Ile1748Asn)
c.4217T>A (p.Ile1406Asn)
c.3798T>A
c.3359T>A (p.Ile1120Asn)
c.*1176T>A (n.*1176T>A)
c.4512T>A
c.4088T>A (p.Ile1363Asn)
c.5285T>A (p.Ile1762Asn)
c.5282T>A (p.Ile1761Asn)
c.5237T>A (p.Ile1746Asn)
c.4361T>A (p.Ile1454Asn)
c.4130T>A (p.Ile1377Asn)
gnomAD v4
10g.94298454T>CCA377641807PLCE1c.4319T>C (p.Ile1440Thr)
c.*1786T>C (n.*1786T>C)
n.1978T>C
n.662T>C
c.*527T>C (n.*527T>C)
c.4271T>C (p.Ile1424Thr)
n.9451T>C
n.2916T>C
c.5111T>C (p.Ile1704Thr)
c.5195T>C (p.Ile1732Thr)
c.5243T>C (p.Ile1748Thr)
c.4217T>C (p.Ile1406Thr)
c.3798T>C
c.3359T>C (p.Ile1120Thr)
c.*1176T>C (n.*1176T>C)
c.4512T>C
c.4088T>C (p.Ile1363Thr)
c.5285T>C (p.Ile1762Thr)
c.5282T>C (p.Ile1761Thr)
c.5237T>C (p.Ile1746Thr)
c.4361T>C (p.Ile1454Thr)
c.4130T>C (p.Ile1377Thr)
10g.94298454T>GCA377641808PLCE1c.4319T>G (p.Ile1440Ser)
c.*1786T>G (n.*1786T>G)
n.1978T>G
n.662T>G
c.*527T>G (n.*527T>G)
c.4271T>G (p.Ile1424Ser)
n.9451T>G
n.2916T>G
c.5111T>G (p.Ile1704Ser)
c.5195T>G (p.Ile1732Ser)
c.5243T>G (p.Ile1748Ser)
c.4217T>G (p.Ile1406Ser)
c.3798T>G
c.3359T>G (p.Ile1120Ser)
c.*1176T>G (n.*1176T>G)
c.4512T>G
c.4088T>G (p.Ile1363Ser)
c.5285T>G (p.Ile1762Ser)
c.5282T>G (p.Ile1761Ser)
c.5237T>G (p.Ile1746Ser)
c.4361T>G (p.Ile1454Ser)
c.4130T>G (p.Ile1377Ser)
dbSNP gnomAD v2 gnomAD v4
10g.94298454T=CA1928998402PLCE1c.4319T= (p.Ile1440=)
c.*1786T= (n.*1786T=)
n.1978T=
n.662T=
c.*527T= (n.*527T=)
c.4271T= (p.Ile1424=)
n.9451T=
n.2916T=
c.5111T= (p.Ile1704=)
c.5195T= (p.Ile1732=)
c.5243T= (p.Ile1748=)
c.4217T= (p.Ile1406=)
c.3798T=
c.3359T= (p.Ile1120=)
c.*1176T= (n.*1176T=)
c.4512T=
c.4088T= (p.Ile1363=)
c.5285T= (p.Ile1762=)
c.5282T= (p.Ile1761=)
c.5237T= (p.Ile1746=)
c.4361T= (p.Ile1454=)
c.4130T= (p.Ile1377=)
10g.94298455C>ACA470986463PLCE1c.4320C>A (p.Ile1440=)
c.*1787C>A (n.*1787C>A)
n.1979C>A
n.663C>A
c.*528C>A (n.*528C>A)
c.4272C>A (p.Ile1424=)
n.9452C>A
n.2917C>A
c.5112C>A (p.Ile1704=)
c.5196C>A (p.Ile1732=)
c.5244C>A (p.Ile1748=)
c.4218C>A (p.Ile1406=)
c.3799C>A
c.3360C>A (p.Ile1120=)
c.*1177C>A (n.*1177C>A)
c.4513C>A
c.4089C>A (p.Ile1363=)
c.5286C>A (p.Ile1762=)
c.5283C>A (p.Ile1761=)
c.5238C>A (p.Ile1746=)
c.4362C>A (p.Ile1454=)
c.4131C>A (p.Ile1377=)
10g.94298455C>GCA377641809PLCE1c.4320C>G (p.Ile1440Met)
c.*1787C>G (n.*1787C>G)
n.1979C>G
n.663C>G
c.*528C>G (n.*528C>G)
c.4272C>G (p.Ile1424Met)
n.9452C>G
n.2917C>G
c.5112C>G (p.Ile1704Met)
c.5196C>G (p.Ile1732Met)
c.5244C>G (p.Ile1748Met)
c.4218C>G (p.Ile1406Met)
c.3799C>G
c.3360C>G (p.Ile1120Met)
c.*1177C>G (n.*1177C>G)
c.4513C>G
c.4089C>G (p.Ile1363Met)
c.5286C>G (p.Ile1762Met)
c.5283C>G (p.Ile1761Met)
c.5238C>G (p.Ile1746Met)
c.4362C>G (p.Ile1454Met)
c.4131C>G (p.Ile1377Met)
10g.94298455C>TCA470986464PLCE1c.4320C>T (p.Ile1440=)
c.*1787C>T (n.*1787C>T)
n.1979C>T
n.663C>T
c.*528C>T (n.*528C>T)
c.4272C>T (p.Ile1424=)
n.9452C>T
n.2917C>T
c.5112C>T (p.Ile1704=)
c.5196C>T (p.Ile1732=)
c.5244C>T (p.Ile1748=)
c.4218C>T (p.Ile1406=)
c.3799C>T
c.3360C>T (p.Ile1120=)
c.*1177C>T (n.*1177C>T)
c.4513C>T
c.4089C>T (p.Ile1363=)
c.5286C>T (p.Ile1762=)
c.5283C>T (p.Ile1761=)
c.5238C>T (p.Ile1746=)
c.4362C>T (p.Ile1454=)
c.4131C>T (p.Ile1377=)

Number of alleles fetched