Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.94298441T>A | CA377641779 | PLCE1 | c.4306T>A (p.Ser1436Thr) c.*1773T>A (n.*1773T>A) n.1965T>A n.649T>A c.*514T>A (n.*514T>A) c.4258T>A (p.Ser1420Thr) n.9438T>A n.2903T>A c.5098T>A (p.Ser1700Thr) c.5182T>A (p.Ser1728Thr) c.5230T>A (p.Ser1744Thr) c.4204T>A (p.Ser1402Thr) c.3785T>A c.3346T>A (p.Ser1116Thr) c.*1163T>A (n.*1163T>A) c.4499T>A c.4075T>A (p.Ser1359Thr) c.5272T>A (p.Ser1758Thr) c.5269T>A (p.Ser1757Thr) c.5224T>A (p.Ser1742Thr) c.4348T>A (p.Ser1450Thr) c.4117T>A (p.Ser1373Thr) | |
10 | g.94298441T>C | CA377641777 | PLCE1 | c.4306T>C (p.Ser1436Pro) c.*1773T>C (n.*1773T>C) n.1965T>C n.649T>C c.*514T>C (n.*514T>C) c.4258T>C (p.Ser1420Pro) n.9438T>C n.2903T>C c.5098T>C (p.Ser1700Pro) c.5182T>C (p.Ser1728Pro) c.5230T>C (p.Ser1744Pro) c.4204T>C (p.Ser1402Pro) c.3785T>C c.3346T>C (p.Ser1116Pro) c.*1163T>C (n.*1163T>C) c.4499T>C c.4075T>C (p.Ser1359Pro) c.5272T>C (p.Ser1758Pro) c.5269T>C (p.Ser1757Pro) c.5224T>C (p.Ser1742Pro) c.4348T>C (p.Ser1450Pro) c.4117T>C (p.Ser1373Pro) | |
10 | g.94298441T>G | CA377641778 | PLCE1 | c.4306T>G (p.Ser1436Ala) c.*1773T>G (n.*1773T>G) n.1965T>G n.649T>G c.*514T>G (n.*514T>G) c.4258T>G (p.Ser1420Ala) n.9438T>G n.2903T>G c.5098T>G (p.Ser1700Ala) c.5182T>G (p.Ser1728Ala) c.5230T>G (p.Ser1744Ala) c.4204T>G (p.Ser1402Ala) c.3785T>G c.3346T>G (p.Ser1116Ala) c.*1163T>G (n.*1163T>G) c.4499T>G c.4075T>G (p.Ser1359Ala) c.5272T>G (p.Ser1758Ala) c.5269T>G (p.Ser1757Ala) c.5224T>G (p.Ser1742Ala) c.4348T>G (p.Ser1450Ala) c.4117T>G (p.Ser1373Ala) | |
10 | g.94298441_94298450delinsTCCCTCAGTG | CA1928998395 | PLCE1 | c.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=) | |
10 | g.94298442C>A | CA377641780 | PLCE1 | c.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 |
10 | g.94298442C= | CA1928998397 | PLCE1 | c.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=) | |
10 | g.94298442C>G | CA377641781 | PLCE1 | c.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) | |
10 | g.94298442C>T | CA377641782 | PLCE1 | c.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) | |
10 | g.94298443_94298451del | CA1928998396 | PLCE1 | c.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 |
10 | g.94298443C>A | CA470986451 | PLCE1 | c.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=) | |
10 | g.94298443C= | CA1928998398 | PLCE1 | c.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=) | |
10 | g.94298443C>G | CA470986453 | PLCE1 | c.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=) | |
10 | g.94298443C>T | CA470986452 | PLCE1 | c.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 |
10 | g.94298444C>A | CA377641783 | PLCE1 | c.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 |
10 | g.94298444C= | CA1928998399 | PLCE1 | c.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=) | |
10 | g.94298444C>G | CA377641784 | PLCE1 | c.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) | |
10 | g.94298444C>T | CA377641785 | PLCE1 | c.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 |
10 | g.94298445T>A | CA377641786 | PLCE1 | c.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) | |
10 | g.94298445T>C | CA377641787 | PLCE1 | c.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) | |
10 | g.94298445T>G | CA377641788 | PLCE1 | c.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) | |
10 | g.94298446C>A | CA470986454 | PLCE1 | c.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=) | |
10 | g.94298446C>G | CA470986455 | PLCE1 | c.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=) | |
10 | g.94298446C>T | CA470986456 | PLCE1 | c.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=) | |
10 | g.94298447A>C | CA377641789 | PLCE1 | c.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) | |
10 | g.94298447A>G | CA377641790 | PLCE1 | c.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) | |
10 | g.94298447A>T | CA377641791 | PLCE1 | c.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) | |
10 | g.94298448G>A | CA377641793 | PLCE1 | c.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) | |
10 | g.94298448G>C | CA377641794 | PLCE1 | c.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) | |
10 | g.94298448G>T | CA377641792 | PLCE1 | c.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) | |
10 | g.94298449T>A | CA377641795 | PLCE1 | c.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) | |
10 | g.94298449T>C | CA470986460 | PLCE1 | c.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=) | |
10 | g.94298449T>G | CA377641796 | PLCE1 | c.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) | |
10 | g.94298450G>A | CA377641797 | PLCE1 | c.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) | |
10 | g.94298450G>C | CA377641798 | PLCE1 | c.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) | |
10 | g.94298450G>T | CA377641799 | PLCE1 | c.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) | |
10 | g.94298451C>A | CA377641800 | PLCE1 | c.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) | |
10 | g.94298451C= | CA1928998400 | PLCE1 | c.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=) | |
10 | g.94298451C>G | CA377641801 | PLCE1 | c.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 |
10 | g.94298451C>T | CA377641802 | PLCE1 | c.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 |
10 | g.94298452T>A | CA211599625 | PLCE1 | c.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 |
10 | g.94298452T>C | CA470986462 | PLCE1 | c.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=) | |
10 | g.94298452T>G | CA470986461 | PLCE1 | c.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=) | |
10 | g.94298452T= | CA1928998401 | PLCE1 | c.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=) | |
10 | g.94298453A>C | CA377641803 | PLCE1 | c.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) | |
10 | g.94298453A>G | CA377641804 | PLCE1 | c.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 |
10 | g.94298453A>T | CA377641805 | PLCE1 | c.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) | |
10 | g.94298454T>A | CA377641806 | PLCE1 | c.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 |
10 | g.94298454T>C | CA377641807 | PLCE1 | c.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) | |
10 | g.94298454T>G | CA377641808 | PLCE1 | c.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 |
10 | g.94298454T= | CA1928998402 | PLCE1 | c.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=) | |
10 | g.94298455C>A | CA470986463 | PLCE1 | c.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=) | |
10 | g.94298455C>G | CA377641809 | PLCE1 | c.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) | |
10 | g.94298455C>T | CA470986464 | PLCE1 | c.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=) | |
10 | g.94298456A>C | CA377641810 | PLCE1 | c.4321A>C (p.Ile1441Leu) c.*1788A>C (n.*1788A>C) n.1980A>C n.664A>C c.*529A>C (n.*529A>C) c.4273A>C (p.Ile1425Leu) n.9453A>C n.2918A>C c.5113A>C (p.Ile1705Leu) c.5197A>C (p.Ile1733Leu) c.5245A>C (p.Ile1749Leu) c.4219A>C (p.Ile1407Leu) c.3800A>C c.3361A>C (p.Ile1121Leu) c.*1178A>C (n.*1178A>C) c.4514A>C c.4090A>C (p.Ile1364Leu) c.5287A>C (p.Ile1763Leu) c.5284A>C (p.Ile1762Leu) c.5239A>C (p.Ile1747Leu) c.4363A>C (p.Ile1455Leu) c.4132A>C (p.Ile1378Leu) | |
10 | g.94298456A>G | CA377641811 | PLCE1 | c.4321A>G (p.Ile1441Val) c.*1788A>G (n.*1788A>G) n.1980A>G n.664A>G c.*529A>G (n.*529A>G) c.4273A>G (p.Ile1425Val) n.9453A>G n.2918A>G c.5113A>G (p.Ile1705Val) c.5197A>G (p.Ile1733Val) c.5245A>G (p.Ile1749Val) c.4219A>G (p.Ile1407Val) c.3800A>G c.3361A>G (p.Ile1121Val) c.*1178A>G (n.*1178A>G) c.4514A>G c.4090A>G (p.Ile1364Val) c.5287A>G (p.Ile1763Val) c.5284A>G (p.Ile1762Val) c.5239A>G (p.Ile1747Val) c.4363A>G (p.Ile1455Val) c.4132A>G (p.Ile1378Val) | |
10 | g.94298456A>T | CA377641812 | PLCE1 | c.4321A>T (p.Ile1441Phe) c.*1788A>T (n.*1788A>T) n.1980A>T n.664A>T c.*529A>T (n.*529A>T) c.4273A>T (p.Ile1425Phe) n.9453A>T n.2918A>T c.5113A>T (p.Ile1705Phe) c.5197A>T (p.Ile1733Phe) c.5245A>T (p.Ile1749Phe) c.4219A>T (p.Ile1407Phe) c.3800A>T c.3361A>T (p.Ile1121Phe) c.*1178A>T (n.*1178A>T) c.4514A>T c.4090A>T (p.Ile1364Phe) c.5287A>T (p.Ile1763Phe) c.5284A>T (p.Ile1762Phe) c.5239A>T (p.Ile1747Phe) c.4363A>T (p.Ile1455Phe) c.4132A>T (p.Ile1378Phe) | |
10 | g.94298457T>A | CA377641813 | PLCE1 | c.4322T>A (p.Ile1441Asn) c.*1789T>A (n.*1789T>A) n.1981T>A n.665T>A c.*530T>A (n.*530T>A) c.4274T>A (p.Ile1425Asn) n.9454T>A n.2919T>A c.5114T>A (p.Ile1705Asn) c.5198T>A (p.Ile1733Asn) c.5246T>A (p.Ile1749Asn) c.4220T>A (p.Ile1407Asn) c.3801T>A c.3362T>A (p.Ile1121Asn) c.*1179T>A (n.*1179T>A) c.4515T>A c.4091T>A (p.Ile1364Asn) c.5288T>A (p.Ile1763Asn) c.5285T>A (p.Ile1762Asn) c.5240T>A (p.Ile1747Asn) c.4364T>A (p.Ile1455Asn) c.4133T>A (p.Ile1378Asn) | |
10 | g.94298457T>C | CA377641814 | PLCE1 | c.4322T>C (p.Ile1441Thr) c.*1789T>C (n.*1789T>C) n.1981T>C n.665T>C c.*530T>C (n.*530T>C) c.4274T>C (p.Ile1425Thr) n.9454T>C n.2919T>C c.5114T>C (p.Ile1705Thr) c.5198T>C (p.Ile1733Thr) c.5246T>C (p.Ile1749Thr) c.4220T>C (p.Ile1407Thr) c.3801T>C c.3362T>C (p.Ile1121Thr) c.*1179T>C (n.*1179T>C) c.4515T>C c.4091T>C (p.Ile1364Thr) c.5288T>C (p.Ile1763Thr) c.5285T>C (p.Ile1762Thr) c.5240T>C (p.Ile1747Thr) c.4364T>C (p.Ile1455Thr) c.4133T>C (p.Ile1378Thr) | |
10 | g.94298457T>G | CA377641815 | PLCE1 | c.4322T>G (p.Ile1441Ser) c.*1789T>G (n.*1789T>G) n.1981T>G n.665T>G c.*530T>G (n.*530T>G) c.4274T>G (p.Ile1425Ser) n.9454T>G n.2919T>G c.5114T>G (p.Ile1705Ser) c.5198T>G (p.Ile1733Ser) c.5246T>G (p.Ile1749Ser) c.4220T>G (p.Ile1407Ser) c.3801T>G c.3362T>G (p.Ile1121Ser) c.*1179T>G (n.*1179T>G) c.4515T>G c.4091T>G (p.Ile1364Ser) c.5288T>G (p.Ile1763Ser) c.5285T>G (p.Ile1762Ser) c.5240T>G (p.Ile1747Ser) c.4364T>G (p.Ile1455Ser) c.4133T>G (p.Ile1378Ser) | |
10 | g.94298458T>A | CA470986465 | PLCE1 | c.4323T>A (p.Ile1441=) c.*1790T>A (n.*1790T>A) n.1982T>A n.666T>A c.*531T>A (n.*531T>A) c.4275T>A (p.Ile1425=) n.9455T>A n.2920T>A c.5115T>A (p.Ile1705=) c.5199T>A (p.Ile1733=) c.5247T>A (p.Ile1749=) c.4221T>A (p.Ile1407=) c.3802T>A c.3363T>A (p.Ile1121=) c.*1180T>A (n.*1180T>A) c.4516T>A c.4092T>A (p.Ile1364=) c.5289T>A (p.Ile1763=) c.5286T>A (p.Ile1762=) c.5241T>A (p.Ile1747=) c.4365T>A (p.Ile1455=) c.4134T>A (p.Ile1378=) | |
10 | g.94298458T>C | CA470986466 | PLCE1 | c.4323T>C (p.Ile1441=) c.*1790T>C (n.*1790T>C) n.1982T>C n.666T>C c.*531T>C (n.*531T>C) c.4275T>C (p.Ile1425=) n.9455T>C n.2920T>C c.5115T>C (p.Ile1705=) c.5199T>C (p.Ile1733=) c.5247T>C (p.Ile1749=) c.4221T>C (p.Ile1407=) c.3802T>C c.3363T>C (p.Ile1121=) c.*1180T>C (n.*1180T>C) c.4516T>C c.4092T>C (p.Ile1364=) c.5289T>C (p.Ile1763=) c.5286T>C (p.Ile1762=) c.5241T>C (p.Ile1747=) c.4365T>C (p.Ile1455=) c.4134T>C (p.Ile1378=) | |
10 | g.94298458T>G | CA377641816 | PLCE1 | c.4323T>G (p.Ile1441Met) c.*1790T>G (n.*1790T>G) n.1982T>G n.666T>G c.*531T>G (n.*531T>G) c.4275T>G (p.Ile1425Met) n.9455T>G n.2920T>G c.5115T>G (p.Ile1705Met) c.5199T>G (p.Ile1733Met) c.5247T>G (p.Ile1749Met) c.4221T>G (p.Ile1407Met) c.3802T>G c.3363T>G (p.Ile1121Met) c.*1180T>G (n.*1180T>G) c.4516T>G c.4092T>G (p.Ile1364Met) c.5289T>G (p.Ile1763Met) c.5286T>G (p.Ile1762Met) c.5241T>G (p.Ile1747Met) c.4365T>G (p.Ile1455Met) c.4134T>G (p.Ile1378Met) | |
10 | g.94298459A>C | CA470986467 | PLCE1 | c.4324A>C (p.Arg1442=) c.*1791A>C (n.*1791A>C) n.1983A>C n.667A>C c.*532A>C (n.*532A>C) c.4276A>C (p.Arg1426=) n.9456A>C n.2921A>C c.5116A>C (p.Arg1706=) c.5200A>C (p.Arg1734=) c.5248A>C (p.Arg1750=) c.4222A>C (p.Arg1408=) c.3803A>C c.3364A>C (p.Arg1122=) c.*1181A>C (n.*1181A>C) c.4517A>C c.4093A>C (p.Arg1365=) c.5290A>C (p.Arg1764=) c.5287A>C (p.Arg1763=) c.5242A>C (p.Arg1748=) c.4366A>C (p.Arg1456=) c.4135A>C (p.Arg1379=) | |
10 | g.94298459A>G | CA377641817 | PLCE1 | c.4324A>G (p.Arg1442Gly) c.*1791A>G (n.*1791A>G) n.1983A>G n.667A>G c.*532A>G (n.*532A>G) c.4276A>G (p.Arg1426Gly) n.9456A>G n.2921A>G c.5116A>G (p.Arg1706Gly) c.5200A>G (p.Arg1734Gly) c.5248A>G (p.Arg1750Gly) c.4222A>G (p.Arg1408Gly) c.3803A>G c.3364A>G (p.Arg1122Gly) c.*1181A>G (n.*1181A>G) c.4517A>G c.4093A>G (p.Arg1365Gly) c.5290A>G (p.Arg1764Gly) c.5287A>G (p.Arg1763Gly) c.5242A>G (p.Arg1748Gly) c.4366A>G (p.Arg1456Gly) c.4135A>G (p.Arg1379Gly) | |
10 | g.94298459A>T | CA377641818 | PLCE1 | c.4324A>T (p.Arg1442Ter) c.*1791A>T (n.*1791A>T) n.1983A>T n.667A>T c.*532A>T (n.*532A>T) c.4276A>T (p.Arg1426Ter) n.9456A>T n.2921A>T c.5116A>T (p.Arg1706Ter) c.5200A>T (p.Arg1734Ter) c.5248A>T (p.Arg1750Ter) c.4222A>T (p.Arg1408Ter) c.3803A>T c.3364A>T (p.Arg1122Ter) c.*1181A>T (n.*1181A>T) c.4517A>T c.4093A>T (p.Arg1365Ter) c.5290A>T (p.Arg1764Ter) c.5287A>T (p.Arg1763Ter) c.5242A>T (p.Arg1748Ter) c.4366A>T (p.Arg1456Ter) c.4135A>T (p.Arg1379Ter) | |
10 | g.94298460G>A | CA377641819 | PLCE1 | c.4325G>A (p.Arg1442Lys) c.*1792G>A (n.*1792G>A) n.1984G>A n.668G>A c.*533G>A (n.*533G>A) c.4277G>A (p.Arg1426Lys) n.9457G>A n.2922G>A c.5117G>A (p.Arg1706Lys) c.5201G>A (p.Arg1734Lys) c.5249G>A (p.Arg1750Lys) c.4223G>A (p.Arg1408Lys) c.3804G>A c.3365G>A (p.Arg1122Lys) c.*1182G>A (n.*1182G>A) c.4518G>A c.4094G>A (p.Arg1365Lys) c.5291G>A (p.Arg1764Lys) c.5288G>A (p.Arg1763Lys) c.5243G>A (p.Arg1748Lys) c.4367G>A (p.Arg1456Lys) c.4136G>A (p.Arg1379Lys) | |
10 | g.94298460G>C | CA377641820 | PLCE1 | c.4325G>C (p.Arg1442Thr) c.*1792G>C (n.*1792G>C) n.1984G>C n.668G>C c.*533G>C (n.*533G>C) c.4277G>C (p.Arg1426Thr) n.9457G>C n.2922G>C c.5117G>C (p.Arg1706Thr) c.5201G>C (p.Arg1734Thr) c.5249G>C (p.Arg1750Thr) c.4223G>C (p.Arg1408Thr) c.3804G>C c.3365G>C (p.Arg1122Thr) c.*1182G>C (n.*1182G>C) c.4518G>C c.4094G>C (p.Arg1365Thr) c.5291G>C (p.Arg1764Thr) c.5288G>C (p.Arg1763Thr) c.5243G>C (p.Arg1748Thr) c.4367G>C (p.Arg1456Thr) c.4136G>C (p.Arg1379Thr) | |
10 | g.94298460G>T | CA377641821 | PLCE1 | c.4325G>T (p.Arg1442Ile) c.*1792G>T (n.*1792G>T) n.1984G>T n.668G>T c.*533G>T (n.*533G>T) c.4277G>T (p.Arg1426Ile) n.9457G>T n.2922G>T c.5117G>T (p.Arg1706Ile) c.5201G>T (p.Arg1734Ile) c.5249G>T (p.Arg1750Ile) c.4223G>T (p.Arg1408Ile) c.3804G>T c.3365G>T (p.Arg1122Ile) c.*1182G>T (n.*1182G>T) c.4518G>T c.4094G>T (p.Arg1365Ile) c.5291G>T (p.Arg1764Ile) c.5288G>T (p.Arg1763Ile) c.5243G>T (p.Arg1748Ile) c.4367G>T (p.Arg1456Ile) c.4136G>T (p.Arg1379Ile) | |
10 | g.94298461A>C | CA377641822 | PLCE1 | c.4326A>C (p.Arg1442Ser) c.*1793A>C (n.*1793A>C) n.1985A>C n.669A>C c.*534A>C (n.*534A>C) c.4278A>C (p.Arg1426Ser) n.9458A>C n.2923A>C c.5118A>C (p.Arg1706Ser) c.5202A>C (p.Arg1734Ser) c.5250A>C (p.Arg1750Ser) c.4224A>C (p.Arg1408Ser) c.3805A>C c.3366A>C (p.Arg1122Ser) c.*1183A>C (n.*1183A>C) c.4519A>C c.4095A>C (p.Arg1365Ser) c.5292A>C (p.Arg1764Ser) c.5289A>C (p.Arg1763Ser) c.5244A>C (p.Arg1748Ser) c.4368A>C (p.Arg1456Ser) c.4137A>C (p.Arg1379Ser) | |
10 | g.94298461A>G | CA470986468 | PLCE1 | c.4326A>G (p.Arg1442=) c.*1793A>G (n.*1793A>G) n.1985A>G n.669A>G c.*534A>G (n.*534A>G) c.4278A>G (p.Arg1426=) n.9458A>G n.2923A>G c.5118A>G (p.Arg1706=) c.5202A>G (p.Arg1734=) c.5250A>G (p.Arg1750=) c.4224A>G (p.Arg1408=) c.3805A>G c.3366A>G (p.Arg1122=) c.*1183A>G (n.*1183A>G) c.4519A>G c.4095A>G (p.Arg1365=) c.5292A>G (p.Arg1764=) c.5289A>G (p.Arg1763=) c.5244A>G (p.Arg1748=) c.4368A>G (p.Arg1456=) c.4137A>G (p.Arg1379=) | |
10 | g.94298461A>T | CA377641823 | PLCE1 | c.4326A>T (p.Arg1442Ser) c.*1793A>T (n.*1793A>T) n.1985A>T n.669A>T c.*534A>T (n.*534A>T) c.4278A>T (p.Arg1426Ser) n.9458A>T n.2923A>T c.5118A>T (p.Arg1706Ser) c.5202A>T (p.Arg1734Ser) c.5250A>T (p.Arg1750Ser) c.4224A>T (p.Arg1408Ser) c.3805A>T c.3366A>T (p.Arg1122Ser) c.*1183A>T (n.*1183A>T) c.4519A>T c.4095A>T (p.Arg1365Ser) c.5292A>T (p.Arg1764Ser) c.5289A>T (p.Arg1763Ser) c.5244A>T (p.Arg1748Ser) c.4368A>T (p.Arg1456Ser) c.4137A>T (p.Arg1379Ser) | |
10 | g.94298462A>C | CA377641826 | PLCE1 | c.4327A>C (p.Thr1443Pro) c.*1794A>C (n.*1794A>C) n.1986A>C n.670A>C c.*535A>C (n.*535A>C) c.4279A>C (p.Thr1427Pro) n.9459A>C n.2924A>C c.5119A>C (p.Thr1707Pro) c.5203A>C (p.Thr1735Pro) c.5251A>C (p.Thr1751Pro) c.4225A>C (p.Thr1409Pro) c.3806A>C c.3367A>C (p.Thr1123Pro) c.*1184A>C (n.*1184A>C) c.4520A>C c.4096A>C (p.Thr1366Pro) c.5293A>C (p.Thr1765Pro) c.5290A>C (p.Thr1764Pro) c.5245A>C (p.Thr1749Pro) c.4369A>C (p.Thr1457Pro) c.4138A>C (p.Thr1380Pro) | |
10 | g.94298462A>G | CA377641825 | PLCE1 | c.4327A>G (p.Thr1443Ala) c.*1794A>G (n.*1794A>G) n.1986A>G n.670A>G c.*535A>G (n.*535A>G) c.4279A>G (p.Thr1427Ala) n.9459A>G n.2924A>G c.5119A>G (p.Thr1707Ala) c.5203A>G (p.Thr1735Ala) c.5251A>G (p.Thr1751Ala) c.4225A>G (p.Thr1409Ala) c.3806A>G c.3367A>G (p.Thr1123Ala) c.*1184A>G (n.*1184A>G) c.4520A>G c.4096A>G (p.Thr1366Ala) c.5293A>G (p.Thr1765Ala) c.5290A>G (p.Thr1764Ala) c.5245A>G (p.Thr1749Ala) c.4369A>G (p.Thr1457Ala) c.4138A>G (p.Thr1380Ala) | |
10 | g.94298462A>T | CA377641824 | PLCE1 | c.4327A>T (p.Thr1443Ser) c.*1794A>T (n.*1794A>T) n.1986A>T n.670A>T c.*535A>T (n.*535A>T) c.4279A>T (p.Thr1427Ser) n.9459A>T n.2924A>T c.5119A>T (p.Thr1707Ser) c.5203A>T (p.Thr1735Ser) c.5251A>T (p.Thr1751Ser) c.4225A>T (p.Thr1409Ser) c.3806A>T c.3367A>T (p.Thr1123Ser) c.*1184A>T (n.*1184A>T) c.4520A>T c.4096A>T (p.Thr1366Ser) c.5293A>T (p.Thr1765Ser) c.5290A>T (p.Thr1764Ser) c.5245A>T (p.Thr1749Ser) c.4369A>T (p.Thr1457Ser) c.4138A>T (p.Thr1380Ser) | |
10 | g.94298463C>A | CA377641827 | PLCE1 | c.4328C>A (p.Thr1443Asn) c.*1795C>A (n.*1795C>A) n.1987C>A n.671C>A c.*536C>A (n.*536C>A) c.4280C>A (p.Thr1427Asn) n.9460C>A n.2925C>A c.5120C>A (p.Thr1707Asn) c.5204C>A (p.Thr1735Asn) c.5252C>A (p.Thr1751Asn) c.4226C>A (p.Thr1409Asn) c.3807C>A c.3368C>A (p.Thr1123Asn) c.*1185C>A (n.*1185C>A) c.4521C>A c.4097C>A (p.Thr1366Asn) c.5294C>A (p.Thr1765Asn) c.5291C>A (p.Thr1764Asn) c.5246C>A (p.Thr1749Asn) c.4370C>A (p.Thr1457Asn) c.4139C>A (p.Thr1380Asn) | |
10 | g.94298463C= | CA1928998403 | PLCE1 | c.4328C= (p.Thr1443=) c.*1795C= (n.*1795C=) n.1987C= n.671C= c.*536C= (n.*536C=) c.4280C= (p.Thr1427=) n.9460C= n.2925C= c.5120C= (p.Thr1707=) c.5204C= (p.Thr1735=) c.5252C= (p.Thr1751=) c.4226C= (p.Thr1409=) c.3807C= c.3368C= (p.Thr1123=) c.*1185C= (n.*1185C=) c.4521C= c.4097C= (p.Thr1366=) c.5294C= (p.Thr1765=) c.5291C= (p.Thr1764=) c.5246C= (p.Thr1749=) c.4370C= (p.Thr1457=) c.4139C= (p.Thr1380=) | |
10 | g.94298463C>G | CA377641829 | PLCE1 | c.4328C>G (p.Thr1443Ser) c.*1795C>G (n.*1795C>G) n.1987C>G n.671C>G c.*536C>G (n.*536C>G) c.4280C>G (p.Thr1427Ser) n.9460C>G n.2925C>G c.5120C>G (p.Thr1707Ser) c.5204C>G (p.Thr1735Ser) c.5252C>G (p.Thr1751Ser) c.4226C>G (p.Thr1409Ser) c.3807C>G c.3368C>G (p.Thr1123Ser) c.*1185C>G (n.*1185C>G) c.4521C>G c.4097C>G (p.Thr1366Ser) c.5294C>G (p.Thr1765Ser) c.5291C>G (p.Thr1764Ser) c.5246C>G (p.Thr1749Ser) c.4370C>G (p.Thr1457Ser) c.4139C>G (p.Thr1380Ser) | |
10 | g.94298463C>T | CA377641828 | PLCE1 | c.4328C>T (p.Thr1443Ile) c.*1795C>T (n.*1795C>T) n.1987C>T n.671C>T c.*536C>T (n.*536C>T) c.4280C>T (p.Thr1427Ile) n.9460C>T n.2925C>T c.5120C>T (p.Thr1707Ile) c.5204C>T (p.Thr1735Ile) c.5252C>T (p.Thr1751Ile) c.4226C>T (p.Thr1409Ile) c.3807C>T c.3368C>T (p.Thr1123Ile) c.*1185C>T (n.*1185C>T) c.4521C>T c.4097C>T (p.Thr1366Ile) c.5294C>T (p.Thr1765Ile) c.5291C>T (p.Thr1764Ile) c.5246C>T (p.Thr1749Ile) c.4370C>T (p.Thr1457Ile) c.4139C>T (p.Thr1380Ile) | dbSNP |
10 | g.94298464T>A | CA470986472 | PLCE1 | c.4329T>A (p.Thr1443=) c.*1796T>A (n.*1796T>A) n.1988T>A n.672T>A c.*537T>A (n.*537T>A) c.4281T>A (p.Thr1427=) n.9461T>A n.2926T>A c.5121T>A (p.Thr1707=) c.5205T>A (p.Thr1735=) c.5253T>A (p.Thr1751=) c.4227T>A (p.Thr1409=) c.3808T>A c.3369T>A (p.Thr1123=) c.*1186T>A (n.*1186T>A) c.4522T>A c.4098T>A (p.Thr1366=) c.5295T>A (p.Thr1765=) c.5292T>A (p.Thr1764=) c.5247T>A (p.Thr1749=) c.4371T>A (p.Thr1457=) c.4140T>A (p.Thr1380=) | |
10 | g.94298464T>C | CA470986473 | PLCE1 | c.4329T>C (p.Thr1443=) c.*1796T>C (n.*1796T>C) n.1988T>C n.672T>C c.*537T>C (n.*537T>C) c.4281T>C (p.Thr1427=) n.9461T>C n.2926T>C c.5121T>C (p.Thr1707=) c.5205T>C (p.Thr1735=) c.5253T>C (p.Thr1751=) c.4227T>C (p.Thr1409=) c.3808T>C c.3369T>C (p.Thr1123=) c.*1186T>C (n.*1186T>C) c.4522T>C c.4098T>C (p.Thr1366=) c.5295T>C (p.Thr1765=) c.5292T>C (p.Thr1764=) c.5247T>C (p.Thr1749=) c.4371T>C (p.Thr1457=) c.4140T>C (p.Thr1380=) | dbSNP |
10 | g.94298464T>G | CA470986474 | PLCE1 | c.4329T>G (p.Thr1443=) c.*1796T>G (n.*1796T>G) n.1988T>G n.672T>G c.*537T>G (n.*537T>G) c.4281T>G (p.Thr1427=) n.9461T>G n.2926T>G c.5121T>G (p.Thr1707=) c.5205T>G (p.Thr1735=) c.5253T>G (p.Thr1751=) c.4227T>G (p.Thr1409=) c.3808T>G c.3369T>G (p.Thr1123=) c.*1186T>G (n.*1186T>G) c.4522T>G c.4098T>G (p.Thr1366=) c.5295T>G (p.Thr1765=) c.5292T>G (p.Thr1764=) c.5247T>G (p.Thr1749=) c.4371T>G (p.Thr1457=) c.4140T>G (p.Thr1380=) | |
10 | g.94298464T= | CA1928998404 | PLCE1 | c.4329T= (p.Thr1443=) c.*1796T= (n.*1796T=) n.1988T= n.672T= c.*537T= (n.*537T=) c.4281T= (p.Thr1427=) n.9461T= n.2926T= c.5121T= (p.Thr1707=) c.5205T= (p.Thr1735=) c.5253T= (p.Thr1751=) c.4227T= (p.Thr1409=) c.3808T= c.3369T= (p.Thr1123=) c.*1186T= (n.*1186T=) c.4522T= c.4098T= (p.Thr1366=) c.5295T= (p.Thr1765=) c.5292T= (p.Thr1764=) c.5247T= (p.Thr1749=) c.4371T= (p.Thr1457=) c.4140T= (p.Thr1380=) | |
10 | g.94298465C>A | CA377641830 | PLCE1 | c.4330C>A (p.Pro1444Thr) c.*1797C>A (n.*1797C>A) n.1989C>A n.673C>A c.*538C>A (n.*538C>A) c.4282C>A (p.Pro1428Thr) n.9462C>A n.2927C>A c.5122C>A (p.Pro1708Thr) c.5206C>A (p.Pro1736Thr) c.5254C>A (p.Pro1752Thr) c.4228C>A (p.Pro1410Thr) c.3809C>A c.3370C>A (p.Pro1124Thr) c.*1187C>A (n.*1187C>A) c.4523C>A c.4099C>A (p.Pro1367Thr) c.5296C>A (p.Pro1766Thr) c.5293C>A (p.Pro1765Thr) c.5248C>A (p.Pro1750Thr) c.4372C>A (p.Pro1458Thr) c.4141C>A (p.Pro1381Thr) | |
10 | g.94298465C>G | CA377641831 | PLCE1 | c.4330C>G (p.Pro1444Ala) c.*1797C>G (n.*1797C>G) n.1989C>G n.673C>G c.*538C>G (n.*538C>G) c.4282C>G (p.Pro1428Ala) n.9462C>G n.2927C>G c.5122C>G (p.Pro1708Ala) c.5206C>G (p.Pro1736Ala) c.5254C>G (p.Pro1752Ala) c.4228C>G (p.Pro1410Ala) c.3809C>G c.3370C>G (p.Pro1124Ala) c.*1187C>G (n.*1187C>G) c.4523C>G c.4099C>G (p.Pro1367Ala) c.5296C>G (p.Pro1766Ala) c.5293C>G (p.Pro1765Ala) c.5248C>G (p.Pro1750Ala) c.4372C>G (p.Pro1458Ala) c.4141C>G (p.Pro1381Ala) | |
10 | g.94298465C>T | CA377641832 | PLCE1 | c.4330C>T (p.Pro1444Ser) c.*1797C>T (n.*1797C>T) n.1989C>T n.673C>T c.*538C>T (n.*538C>T) c.4282C>T (p.Pro1428Ser) n.9462C>T n.2927C>T c.5122C>T (p.Pro1708Ser) c.5206C>T (p.Pro1736Ser) c.5254C>T (p.Pro1752Ser) c.4228C>T (p.Pro1410Ser) c.3809C>T c.3370C>T (p.Pro1124Ser) c.*1187C>T (n.*1187C>T) c.4523C>T c.4099C>T (p.Pro1367Ser) c.5296C>T (p.Pro1766Ser) c.5293C>T (p.Pro1765Ser) c.5248C>T (p.Pro1750Ser) c.4372C>T (p.Pro1458Ser) c.4141C>T (p.Pro1381Ser) | |
10 | g.94298466C>A | CA377641833 | PLCE1 | c.4331C>A (p.Pro1444His) c.*1798C>A (n.*1798C>A) n.1990C>A n.674C>A c.*539C>A (n.*539C>A) c.4283C>A (p.Pro1428His) n.9463C>A n.2928C>A c.5123C>A (p.Pro1708His) c.5207C>A (p.Pro1736His) c.5255C>A (p.Pro1752His) c.4229C>A (p.Pro1410His) c.3810C>A c.3371C>A (p.Pro1124His) c.*1188C>A (n.*1188C>A) c.4524C>A c.4100C>A (p.Pro1367His) c.5297C>A (p.Pro1766His) c.5294C>A (p.Pro1765His) c.5249C>A (p.Pro1750His) c.4373C>A (p.Pro1458His) c.4142C>A (p.Pro1381His) | |
10 | g.94298466C>G | CA377641834 | PLCE1 | c.4331C>G (p.Pro1444Arg) c.*1798C>G (n.*1798C>G) n.1990C>G n.674C>G c.*539C>G (n.*539C>G) c.4283C>G (p.Pro1428Arg) n.9463C>G n.2928C>G c.5123C>G (p.Pro1708Arg) c.5207C>G (p.Pro1736Arg) c.5255C>G (p.Pro1752Arg) c.4229C>G (p.Pro1410Arg) c.3810C>G c.3371C>G (p.Pro1124Arg) c.*1188C>G (n.*1188C>G) c.4524C>G c.4100C>G (p.Pro1367Arg) c.5297C>G (p.Pro1766Arg) c.5294C>G (p.Pro1765Arg) c.5249C>G (p.Pro1750Arg) c.4373C>G (p.Pro1458Arg) c.4142C>G (p.Pro1381Arg) | |
10 | g.94298466C>T | CA377641835 | PLCE1 | c.4331C>T (p.Pro1444Leu) c.*1798C>T (n.*1798C>T) n.1990C>T n.674C>T c.*539C>T (n.*539C>T) c.4283C>T (p.Pro1428Leu) n.9463C>T n.2928C>T c.5123C>T (p.Pro1708Leu) c.5207C>T (p.Pro1736Leu) c.5255C>T (p.Pro1752Leu) c.4229C>T (p.Pro1410Leu) c.3810C>T c.3371C>T (p.Pro1124Leu) c.*1188C>T (n.*1188C>T) c.4524C>T c.4100C>T (p.Pro1367Leu) c.5297C>T (p.Pro1766Leu) c.5294C>T (p.Pro1765Leu) c.5249C>T (p.Pro1750Leu) c.4373C>T (p.Pro1458Leu) c.4142C>T (p.Pro1381Leu) | |
10 | g.94298467C>A | CA470986475 | PLCE1 | c.4332C>A (p.Pro1444=) c.*1799C>A (n.*1799C>A) n.1991C>A n.675C>A c.*540C>A (n.*540C>A) c.4284C>A (p.Pro1428=) n.9464C>A n.2929C>A c.5124C>A (p.Pro1708=) c.5208C>A (p.Pro1736=) c.5256C>A (p.Pro1752=) c.4230C>A (p.Pro1410=) c.3811C>A c.3372C>A (p.Pro1124=) c.*1189C>A (n.*1189C>A) c.4525C>A c.4101C>A (p.Pro1367=) c.5298C>A (p.Pro1766=) c.5295C>A (p.Pro1765=) c.5250C>A (p.Pro1750=) c.4374C>A (p.Pro1458=) c.4143C>A (p.Pro1381=) | |
10 | g.94298467C>G | CA470986476 | PLCE1 | c.4332C>G (p.Pro1444=) c.*1799C>G (n.*1799C>G) n.1991C>G n.675C>G c.*540C>G (n.*540C>G) c.4284C>G (p.Pro1428=) n.9464C>G n.2929C>G c.5124C>G (p.Pro1708=) c.5208C>G (p.Pro1736=) c.5256C>G (p.Pro1752=) c.4230C>G (p.Pro1410=) c.3811C>G c.3372C>G (p.Pro1124=) c.*1189C>G (n.*1189C>G) c.4525C>G c.4101C>G (p.Pro1367=) c.5298C>G (p.Pro1766=) c.5295C>G (p.Pro1765=) c.5250C>G (p.Pro1750=) c.4374C>G (p.Pro1458=) c.4143C>G (p.Pro1381=) | |
10 | g.94298467C>T | CA470986477 | PLCE1 | c.4332C>T (p.Pro1444=) c.*1799C>T (n.*1799C>T) n.1991C>T n.675C>T c.*540C>T (n.*540C>T) c.4284C>T (p.Pro1428=) n.9464C>T n.2929C>T c.5124C>T (p.Pro1708=) c.5208C>T (p.Pro1736=) c.5256C>T (p.Pro1752=) c.4230C>T (p.Pro1410=) c.3811C>T c.3372C>T (p.Pro1124=) c.*1189C>T (n.*1189C>T) c.4525C>T c.4101C>T (p.Pro1367=) c.5298C>T (p.Pro1766=) c.5295C>T (p.Pro1765=) c.5250C>T (p.Pro1750=) c.4374C>T (p.Pro1458=) c.4143C>T (p.Pro1381=) | |
10 | g.94298468A>C | CA377641838 | PLCE1 | c.4333A>C (p.Lys1445Gln) c.*1800A>C (n.*1800A>C) n.1992A>C n.676A>C c.*541A>C (n.*541A>C) c.4285A>C (p.Lys1429Gln) n.9465A>C n.2930A>C c.5125A>C (p.Lys1709Gln) c.5209A>C (p.Lys1737Gln) c.5257A>C (p.Lys1753Gln) c.4231A>C (p.Lys1411Gln) c.3812A>C c.3373A>C (p.Lys1125Gln) c.*1190A>C (n.*1190A>C) c.4526A>C c.4102A>C (p.Lys1368Gln) c.5299A>C (p.Lys1767Gln) c.5296A>C (p.Lys1766Gln) c.5251A>C (p.Lys1751Gln) c.4375A>C (p.Lys1459Gln) c.4144A>C (p.Lys1382Gln) | |
10 | g.94298468A>G | CA377641836 | PLCE1 | c.4333A>G (p.Lys1445Glu) c.*1800A>G (n.*1800A>G) n.1992A>G n.676A>G c.*541A>G (n.*541A>G) c.4285A>G (p.Lys1429Glu) n.9465A>G n.2930A>G c.5125A>G (p.Lys1709Glu) c.5209A>G (p.Lys1737Glu) c.5257A>G (p.Lys1753Glu) c.4231A>G (p.Lys1411Glu) c.3812A>G c.3373A>G (p.Lys1125Glu) c.*1190A>G (n.*1190A>G) c.4526A>G c.4102A>G (p.Lys1368Glu) c.5299A>G (p.Lys1767Glu) c.5296A>G (p.Lys1766Glu) c.5251A>G (p.Lys1751Glu) c.4375A>G (p.Lys1459Glu) c.4144A>G (p.Lys1382Glu) | |
10 | g.94298468A>T | CA377641837 | PLCE1 | c.4333A>T (p.Lys1445Ter) c.*1800A>T (n.*1800A>T) n.1992A>T n.676A>T c.*541A>T (n.*541A>T) c.4285A>T (p.Lys1429Ter) n.9465A>T n.2930A>T c.5125A>T (p.Lys1709Ter) c.5209A>T (p.Lys1737Ter) c.5257A>T (p.Lys1753Ter) c.4231A>T (p.Lys1411Ter) c.3812A>T c.3373A>T (p.Lys1125Ter) c.*1190A>T (n.*1190A>T) c.4526A>T c.4102A>T (p.Lys1368Ter) c.5299A>T (p.Lys1767Ter) c.5296A>T (p.Lys1766Ter) c.5251A>T (p.Lys1751Ter) c.4375A>T (p.Lys1459Ter) c.4144A>T (p.Lys1382Ter) | |
10 | g.94298469A= | CA1928998405 | PLCE1 | c.4334A= (p.Lys1445=) c.*1801A= (n.*1801A=) n.1993A= n.677A= c.*542A= (n.*542A=) c.4286A= (p.Lys1429=) n.9466A= n.2931A= c.5126A= (p.Lys1709=) c.5210A= (p.Lys1737=) c.5258A= (p.Lys1753=) c.4232A= (p.Lys1411=) c.3813A= c.3374A= (p.Lys1125=) c.*1191A= (n.*1191A=) c.4527A= c.4103A= (p.Lys1368=) c.5300A= (p.Lys1767=) c.5297A= (p.Lys1766=) c.5252A= (p.Lys1751=) c.4376A= (p.Lys1459=) c.4145A= (p.Lys1382=) | |
10 | g.94298469A>C | CA377641839 | PLCE1 | c.4334A>C (p.Lys1445Thr) c.*1801A>C (n.*1801A>C) n.1993A>C n.677A>C c.*542A>C (n.*542A>C) c.4286A>C (p.Lys1429Thr) n.9466A>C n.2931A>C c.5126A>C (p.Lys1709Thr) c.5210A>C (p.Lys1737Thr) c.5258A>C (p.Lys1753Thr) c.4232A>C (p.Lys1411Thr) c.3813A>C c.3374A>C (p.Lys1125Thr) c.*1191A>C (n.*1191A>C) c.4527A>C c.4103A>C (p.Lys1368Thr) c.5300A>C (p.Lys1767Thr) c.5297A>C (p.Lys1766Thr) c.5252A>C (p.Lys1751Thr) c.4376A>C (p.Lys1459Thr) c.4145A>C (p.Lys1382Thr) | |
10 | g.94298469A>G | CA377641840 | PLCE1 | c.4334A>G (p.Lys1445Arg) c.*1801A>G (n.*1801A>G) n.1993A>G n.677A>G c.*542A>G (n.*542A>G) c.4286A>G (p.Lys1429Arg) n.9466A>G n.2931A>G c.5126A>G (p.Lys1709Arg) c.5210A>G (p.Lys1737Arg) c.5258A>G (p.Lys1753Arg) c.4232A>G (p.Lys1411Arg) c.3813A>G c.3374A>G (p.Lys1125Arg) c.*1191A>G (n.*1191A>G) c.4527A>G c.4103A>G (p.Lys1368Arg) c.5300A>G (p.Lys1767Arg) c.5297A>G (p.Lys1766Arg) c.5252A>G (p.Lys1751Arg) c.4376A>G (p.Lys1459Arg) c.4145A>G (p.Lys1382Arg) | dbSNP COSMIC COSMIC |
10 | g.94298469A>T | CA377641841 | PLCE1 | c.4334A>T (p.Lys1445Ile) c.*1801A>T (n.*1801A>T) n.1993A>T n.677A>T c.*542A>T (n.*542A>T) c.4286A>T (p.Lys1429Ile) n.9466A>T n.2931A>T c.5126A>T (p.Lys1709Ile) c.5210A>T (p.Lys1737Ile) c.5258A>T (p.Lys1753Ile) c.4232A>T (p.Lys1411Ile) c.3813A>T c.3374A>T (p.Lys1125Ile) c.*1191A>T (n.*1191A>T) c.4527A>T c.4103A>T (p.Lys1368Ile) c.5300A>T (p.Lys1767Ile) c.5297A>T (p.Lys1766Ile) c.5252A>T (p.Lys1751Ile) c.4376A>T (p.Lys1459Ile) c.4145A>T (p.Lys1382Ile) | |
10 | g.94298470A>C | CA377641842 | PLCE1 | c.4335A>C (p.Lys1445Asn) c.*1802A>C (n.*1802A>C) n.1994A>C n.678A>C c.*543A>C (n.*543A>C) c.4287A>C (p.Lys1429Asn) n.9467A>C n.2932A>C c.5127A>C (p.Lys1709Asn) c.5211A>C (p.Lys1737Asn) c.5259A>C (p.Lys1753Asn) c.4233A>C (p.Lys1411Asn) c.3814A>C c.3375A>C (p.Lys1125Asn) c.*1192A>C (n.*1192A>C) c.4528A>C c.4104A>C (p.Lys1368Asn) c.5301A>C (p.Lys1767Asn) c.5298A>C (p.Lys1766Asn) c.5253A>C (p.Lys1751Asn) c.4377A>C (p.Lys1459Asn) c.4146A>C (p.Lys1382Asn) | |
10 | g.94298470A>G | CA470986479 | PLCE1 | c.4335A>G (p.Lys1445=) c.*1802A>G (n.*1802A>G) n.1994A>G n.678A>G c.*543A>G (n.*543A>G) c.4287A>G (p.Lys1429=) n.9467A>G n.2932A>G c.5127A>G (p.Lys1709=) c.5211A>G (p.Lys1737=) c.5259A>G (p.Lys1753=) c.4233A>G (p.Lys1411=) c.3814A>G c.3375A>G (p.Lys1125=) c.*1192A>G (n.*1192A>G) c.4528A>G c.4104A>G (p.Lys1368=) c.5301A>G (p.Lys1767=) c.5298A>G (p.Lys1766=) c.5253A>G (p.Lys1751=) c.4377A>G (p.Lys1459=) c.4146A>G (p.Lys1382=) | |
10 | g.94298470A>T | CA377641843 | PLCE1 | c.4335A>T (p.Lys1445Asn) c.*1802A>T (n.*1802A>T) n.1994A>T n.678A>T c.*543A>T (n.*543A>T) c.4287A>T (p.Lys1429Asn) n.9467A>T n.2932A>T c.5127A>T (p.Lys1709Asn) c.5211A>T (p.Lys1737Asn) c.5259A>T (p.Lys1753Asn) c.4233A>T (p.Lys1411Asn) c.3814A>T c.3375A>T (p.Lys1125Asn) c.*1192A>T (n.*1192A>T) c.4528A>T c.4104A>T (p.Lys1368Asn) c.5301A>T (p.Lys1767Asn) c.5298A>T (p.Lys1766Asn) c.5253A>T (p.Lys1751Asn) c.4377A>T (p.Lys1459Asn) c.4146A>T (p.Lys1382Asn) | |
10 | g.94298471T>A | CA377641846 | PLCE1 | c.4336T>A (p.Cys1446Ser) c.*1803T>A (n.*1803T>A) n.1995T>A n.679T>A c.*544T>A (n.*544T>A) c.4288T>A (p.Cys1430Ser) n.9468T>A n.2933T>A c.5128T>A (p.Cys1710Ser) c.5212T>A (p.Cys1738Ser) c.5260T>A (p.Cys1754Ser) c.4234T>A (p.Cys1412Ser) c.3815T>A c.3376T>A (p.Cys1126Ser) c.*1193T>A (n.*1193T>A) c.4529T>A c.4105T>A (p.Cys1369Ser) c.5302T>A (p.Cys1768Ser) c.5299T>A (p.Cys1767Ser) c.5254T>A (p.Cys1752Ser) c.4378T>A (p.Cys1460Ser) c.4147T>A (p.Cys1383Ser) | |
10 | g.94298471T>C | CA377641844 | PLCE1 | c.4336T>C (p.Cys1446Arg) c.*1803T>C (n.*1803T>C) n.1995T>C n.679T>C c.*544T>C (n.*544T>C) c.4288T>C (p.Cys1430Arg) n.9468T>C n.2933T>C c.5128T>C (p.Cys1710Arg) c.5212T>C (p.Cys1738Arg) c.5260T>C (p.Cys1754Arg) c.4234T>C (p.Cys1412Arg) c.3815T>C c.3376T>C (p.Cys1126Arg) c.*1193T>C (n.*1193T>C) c.4529T>C c.4105T>C (p.Cys1369Arg) c.5302T>C (p.Cys1768Arg) c.5299T>C (p.Cys1767Arg) c.5254T>C (p.Cys1752Arg) c.4378T>C (p.Cys1460Arg) c.4147T>C (p.Cys1383Arg) | |
10 | g.94298471T>G | CA377641845 | PLCE1 | c.4336T>G (p.Cys1446Gly) c.*1803T>G (n.*1803T>G) n.1995T>G n.679T>G c.*544T>G (n.*544T>G) c.4288T>G (p.Cys1430Gly) n.9468T>G n.2933T>G c.5128T>G (p.Cys1710Gly) c.5212T>G (p.Cys1738Gly) c.5260T>G (p.Cys1754Gly) c.4234T>G (p.Cys1412Gly) c.3815T>G c.3376T>G (p.Cys1126Gly) c.*1193T>G (n.*1193T>G) c.4529T>G c.4105T>G (p.Cys1369Gly) c.5302T>G (p.Cys1768Gly) c.5299T>G (p.Cys1767Gly) c.5254T>G (p.Cys1752Gly) c.4378T>G (p.Cys1460Gly) c.4147T>G (p.Cys1383Gly) | |
10 | g.94298472G>A | CA377641847 | PLCE1 | c.4337G>A (p.Cys1446Tyr) c.*1804G>A (n.*1804G>A) n.1996G>A n.680G>A c.*545G>A (n.*545G>A) c.4289G>A (p.Cys1430Tyr) n.9469G>A n.2934G>A c.5129G>A (p.Cys1710Tyr) c.5213G>A (p.Cys1738Tyr) c.5261G>A (p.Cys1754Tyr) c.4235G>A (p.Cys1412Tyr) c.3816G>A c.3377G>A (p.Cys1126Tyr) c.*1194G>A (n.*1194G>A) c.4530G>A c.4106G>A (p.Cys1369Tyr) c.5303G>A (p.Cys1768Tyr) c.5300G>A (p.Cys1767Tyr) c.5255G>A (p.Cys1752Tyr) c.4379G>A (p.Cys1460Tyr) c.4148G>A (p.Cys1383Tyr) | dbSNP |
10 | g.94298472G>C | CA377641848 | PLCE1 | c.4337G>C (p.Cys1446Ser) c.*1804G>C (n.*1804G>C) n.1996G>C n.680G>C c.*545G>C (n.*545G>C) c.4289G>C (p.Cys1430Ser) n.9469G>C n.2934G>C c.5129G>C (p.Cys1710Ser) c.5213G>C (p.Cys1738Ser) c.5261G>C (p.Cys1754Ser) c.4235G>C (p.Cys1412Ser) c.3816G>C c.3377G>C (p.Cys1126Ser) c.*1194G>C (n.*1194G>C) c.4530G>C c.4106G>C (p.Cys1369Ser) c.5303G>C (p.Cys1768Ser) c.5300G>C (p.Cys1767Ser) c.5255G>C (p.Cys1752Ser) c.4379G>C (p.Cys1460Ser) c.4148G>C (p.Cys1383Ser) | gnomAD v4 |
10 | g.94298472G= | CA1928998406 | PLCE1 | c.4337G= (p.Cys1446=) c.*1804G= (n.*1804G=) n.1996G= n.680G= c.*545G= (n.*545G=) c.4289G= (p.Cys1430=) n.9469G= n.2934G= c.5129G= (p.Cys1710=) c.5213G= (p.Cys1738=) c.5261G= (p.Cys1754=) c.4235G= (p.Cys1412=) c.3816G= c.3377G= (p.Cys1126=) c.*1194G= (n.*1194G=) c.4530G= c.4106G= (p.Cys1369=) c.5303G= (p.Cys1768=) c.5300G= (p.Cys1767=) c.5255G= (p.Cys1752=) c.4379G= (p.Cys1460=) c.4148G= (p.Cys1383=) | |
10 | g.94298472G>T | CA377641849 | PLCE1 | c.4337G>T (p.Cys1446Phe) c.*1804G>T (n.*1804G>T) n.1996G>T n.680G>T c.*545G>T (n.*545G>T) c.4289G>T (p.Cys1430Phe) n.9469G>T n.2934G>T c.5129G>T (p.Cys1710Phe) c.5213G>T (p.Cys1738Phe) c.5261G>T (p.Cys1754Phe) c.4235G>T (p.Cys1412Phe) c.3816G>T c.3377G>T (p.Cys1126Phe) c.*1194G>T (n.*1194G>T) c.4530G>T c.4106G>T (p.Cys1369Phe) c.5303G>T (p.Cys1768Phe) c.5300G>T (p.Cys1767Phe) c.5255G>T (p.Cys1752Phe) c.4379G>T (p.Cys1460Phe) c.4148G>T (p.Cys1383Phe) | |
10 | g.94298473T>A | CA377641850 | PLCE1 | c.4338T>A (p.Cys1446Ter) c.*1805T>A (n.*1805T>A) n.1997T>A n.681T>A c.*546T>A (n.*546T>A) c.4290T>A (p.Cys1430Ter) n.9470T>A n.2935T>A c.5130T>A (p.Cys1710Ter) c.5214T>A (p.Cys1738Ter) c.5262T>A (p.Cys1754Ter) c.4236T>A (p.Cys1412Ter) c.3817T>A c.3378T>A (p.Cys1126Ter) c.*1195T>A (n.*1195T>A) c.4531T>A c.4107T>A (p.Cys1369Ter) c.5304T>A (p.Cys1768Ter) c.5301T>A (p.Cys1767Ter) c.5256T>A (p.Cys1752Ter) c.4380T>A (p.Cys1460Ter) c.4149T>A (p.Cys1383Ter) | |
10 | g.94298473T>C | CA470986480 | PLCE1 | c.4338T>C (p.Cys1446=) c.*1805T>C (n.*1805T>C) n.1997T>C n.681T>C c.*546T>C (n.*546T>C) c.4290T>C (p.Cys1430=) n.9470T>C n.2935T>C c.5130T>C (p.Cys1710=) c.5214T>C (p.Cys1738=) c.5262T>C (p.Cys1754=) c.4236T>C (p.Cys1412=) c.3817T>C c.3378T>C (p.Cys1126=) c.*1195T>C (n.*1195T>C) c.4531T>C c.4107T>C (p.Cys1369=) c.5304T>C (p.Cys1768=) c.5301T>C (p.Cys1767=) c.5256T>C (p.Cys1752=) c.4380T>C (p.Cys1460=) c.4149T>C (p.Cys1383=) | |
10 | g.94298473T>G | CA377641851 | PLCE1 | c.4338T>G (p.Cys1446Trp) c.*1805T>G (n.*1805T>G) n.1997T>G n.681T>G c.*546T>G (n.*546T>G) c.4290T>G (p.Cys1430Trp) n.9470T>G n.2935T>G c.5130T>G (p.Cys1710Trp) c.5214T>G (p.Cys1738Trp) c.5262T>G (p.Cys1754Trp) c.4236T>G (p.Cys1412Trp) c.3817T>G c.3378T>G (p.Cys1126Trp) c.*1195T>G (n.*1195T>G) c.4531T>G c.4107T>G (p.Cys1369Trp) c.5304T>G (p.Cys1768Trp) c.5301T>G (p.Cys1767Trp) c.5256T>G (p.Cys1752Trp) c.4380T>G (p.Cys1460Trp) c.4149T>G (p.Cys1383Trp) | |
10 | g.94298474T>A | CA377641852 | PLCE1 | c.4339T>A (p.Tyr1447Asn) c.*1806T>A (n.*1806T>A) n.1998T>A n.682T>A c.*547T>A (n.*547T>A) c.4291T>A (p.Tyr1431Asn) n.9471T>A n.2936T>A c.5131T>A (p.Tyr1711Asn) c.5215T>A (p.Tyr1739Asn) c.5263T>A (p.Tyr1755Asn) c.4237T>A (p.Tyr1413Asn) c.3818T>A c.3379T>A (p.Tyr1127Asn) c.*1196T>A (n.*1196T>A) c.4532T>A c.4108T>A (p.Tyr1370Asn) c.5305T>A (p.Tyr1769Asn) c.5302T>A (p.Tyr1768Asn) c.5257T>A (p.Tyr1753Asn) c.4381T>A (p.Tyr1461Asn) c.4150T>A (p.Tyr1384Asn) | |
10 | g.94298474T>C | CA377641853 | PLCE1 | c.4339T>C (p.Tyr1447His) c.*1806T>C (n.*1806T>C) n.1998T>C n.682T>C c.*547T>C (n.*547T>C) c.4291T>C (p.Tyr1431His) n.9471T>C n.2936T>C c.5131T>C (p.Tyr1711His) c.5215T>C (p.Tyr1739His) c.5263T>C (p.Tyr1755His) c.4237T>C (p.Tyr1413His) c.3818T>C c.3379T>C (p.Tyr1127His) c.*1196T>C (n.*1196T>C) c.4532T>C c.4108T>C (p.Tyr1370His) c.5305T>C (p.Tyr1769His) c.5302T>C (p.Tyr1768His) c.5257T>C (p.Tyr1753His) c.4381T>C (p.Tyr1461His) c.4150T>C (p.Tyr1384His) | |
10 | g.94298474T>G | CA377641854 | PLCE1 | c.4339T>G (p.Tyr1447Asp) c.*1806T>G (n.*1806T>G) n.1998T>G n.682T>G c.*547T>G (n.*547T>G) c.4291T>G (p.Tyr1431Asp) n.9471T>G n.2936T>G c.5131T>G (p.Tyr1711Asp) c.5215T>G (p.Tyr1739Asp) c.5263T>G (p.Tyr1755Asp) c.4237T>G (p.Tyr1413Asp) c.3818T>G c.3379T>G (p.Tyr1127Asp) c.*1196T>G (n.*1196T>G) c.4532T>G c.4108T>G (p.Tyr1370Asp) c.5305T>G (p.Tyr1769Asp) c.5302T>G (p.Tyr1768Asp) c.5257T>G (p.Tyr1753Asp) c.4381T>G (p.Tyr1461Asp) c.4150T>G (p.Tyr1384Asp) | |
10 | g.94298475A>C | CA377641855 | PLCE1 | c.4340A>C (p.Tyr1447Ser) c.*1807A>C (n.*1807A>C) n.1999A>C n.683A>C c.*548A>C (n.*548A>C) c.4292A>C (p.Tyr1431Ser) n.9472A>C n.2937A>C c.5132A>C (p.Tyr1711Ser) c.5216A>C (p.Tyr1739Ser) c.5264A>C (p.Tyr1755Ser) c.4238A>C (p.Tyr1413Ser) c.3819A>C c.3380A>C (p.Tyr1127Ser) c.*1197A>C (n.*1197A>C) c.4533A>C c.4109A>C (p.Tyr1370Ser) c.5306A>C (p.Tyr1769Ser) c.5303A>C (p.Tyr1768Ser) c.5258A>C (p.Tyr1753Ser) c.4382A>C (p.Tyr1461Ser) c.4151A>C (p.Tyr1384Ser) | |
10 | g.94298475A>G | CA377641856 | PLCE1 | c.4340A>G (p.Tyr1447Cys) c.*1807A>G (n.*1807A>G) n.1999A>G n.683A>G c.*548A>G (n.*548A>G) c.4292A>G (p.Tyr1431Cys) n.9472A>G n.2937A>G c.5132A>G (p.Tyr1711Cys) c.5216A>G (p.Tyr1739Cys) c.5264A>G (p.Tyr1755Cys) c.4238A>G (p.Tyr1413Cys) c.3819A>G c.3380A>G (p.Tyr1127Cys) c.*1197A>G (n.*1197A>G) c.4533A>G c.4109A>G (p.Tyr1370Cys) c.5306A>G (p.Tyr1769Cys) c.5303A>G (p.Tyr1768Cys) c.5258A>G (p.Tyr1753Cys) c.4382A>G (p.Tyr1461Cys) c.4151A>G (p.Tyr1384Cys) | gnomAD v4 |
10 | g.94298475A>T | CA377641857 | PLCE1 | c.4340A>T (p.Tyr1447Phe) c.*1807A>T (n.*1807A>T) n.1999A>T n.683A>T c.*548A>T (n.*548A>T) c.4292A>T (p.Tyr1431Phe) n.9472A>T n.2937A>T c.5132A>T (p.Tyr1711Phe) c.5216A>T (p.Tyr1739Phe) c.5264A>T (p.Tyr1755Phe) c.4238A>T (p.Tyr1413Phe) c.3819A>T c.3380A>T (p.Tyr1127Phe) c.*1197A>T (n.*1197A>T) c.4533A>T c.4109A>T (p.Tyr1370Phe) c.5306A>T (p.Tyr1769Phe) c.5303A>T (p.Tyr1768Phe) c.5258A>T (p.Tyr1753Phe) c.4382A>T (p.Tyr1461Phe) c.4151A>T (p.Tyr1384Phe) | |
10 | g.94298476T>A | CA377641858 | PLCE1 | c.4341T>A (p.Tyr1447Ter) c.*1808T>A (n.*1808T>A) n.2000T>A n.684T>A c.*549T>A (n.*549T>A) c.4293T>A (p.Tyr1431Ter) n.9473T>A n.2938T>A c.5133T>A (p.Tyr1711Ter) c.5217T>A (p.Tyr1739Ter) c.5265T>A (p.Tyr1755Ter) c.4239T>A (p.Tyr1413Ter) c.3820T>A c.3381T>A (p.Tyr1127Ter) c.*1198T>A (n.*1198T>A) c.4534T>A c.4110T>A (p.Tyr1370Ter) c.5307T>A (p.Tyr1769Ter) c.5304T>A (p.Tyr1768Ter) c.5259T>A (p.Tyr1753Ter) c.4383T>A (p.Tyr1461Ter) c.4152T>A (p.Tyr1384Ter) | |
10 | g.94298476T>C | CA470986481 | PLCE1 | c.4341T>C (p.Tyr1447=) c.*1808T>C (n.*1808T>C) n.2000T>C n.684T>C c.*549T>C (n.*549T>C) c.4293T>C (p.Tyr1431=) n.9473T>C n.2938T>C c.5133T>C (p.Tyr1711=) c.5217T>C (p.Tyr1739=) c.5265T>C (p.Tyr1755=) c.4239T>C (p.Tyr1413=) c.3820T>C c.3381T>C (p.Tyr1127=) c.*1198T>C (n.*1198T>C) c.4534T>C c.4110T>C (p.Tyr1370=) c.5307T>C (p.Tyr1769=) c.5304T>C (p.Tyr1768=) c.5259T>C (p.Tyr1753=) c.4383T>C (p.Tyr1461=) c.4152T>C (p.Tyr1384=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298476T>G | CA377641859 | PLCE1 | c.4341T>G (p.Tyr1447Ter) c.*1808T>G (n.*1808T>G) n.2000T>G n.684T>G c.*549T>G (n.*549T>G) c.4293T>G (p.Tyr1431Ter) n.9473T>G n.2938T>G c.5133T>G (p.Tyr1711Ter) c.5217T>G (p.Tyr1739Ter) c.5265T>G (p.Tyr1755Ter) c.4239T>G (p.Tyr1413Ter) c.3820T>G c.3381T>G (p.Tyr1127Ter) c.*1198T>G (n.*1198T>G) c.4534T>G c.4110T>G (p.Tyr1370Ter) c.5307T>G (p.Tyr1769Ter) c.5304T>G (p.Tyr1768Ter) c.5259T>G (p.Tyr1753Ter) c.4383T>G (p.Tyr1461Ter) c.4152T>G (p.Tyr1384Ter) | |
10 | g.94298476T= | CA1928998407 | PLCE1 | c.4341T= (p.Tyr1447=) c.*1808T= (n.*1808T=) n.2000T= n.684T= c.*549T= (n.*549T=) c.4293T= (p.Tyr1431=) n.9473T= n.2938T= c.5133T= (p.Tyr1711=) c.5217T= (p.Tyr1739=) c.5265T= (p.Tyr1755=) c.4239T= (p.Tyr1413=) c.3820T= c.3381T= (p.Tyr1127=) c.*1198T= (n.*1198T=) c.4534T= c.4110T= (p.Tyr1370=) c.5307T= (p.Tyr1769=) c.5304T= (p.Tyr1768=) c.5259T= (p.Tyr1753=) c.4383T= (p.Tyr1461=) c.4152T= (p.Tyr1384=) | |
10 | g.94298477C>A | CA377641860 | PLCE1 | c.4342C>A (p.His1448Asn) c.*1809C>A (n.*1809C>A) n.2001C>A n.685C>A c.*550C>A (n.*550C>A) c.4294C>A (p.His1432Asn) n.9474C>A n.2939C>A c.5134C>A (p.His1712Asn) c.5218C>A (p.His1740Asn) c.5266C>A (p.His1756Asn) c.4240C>A (p.His1414Asn) c.3821C>A c.3382C>A (p.His1128Asn) c.*1199C>A (n.*1199C>A) c.4535C>A c.4111C>A c.5308C>A (p.His1770Asn) c.5305C>A (p.His1769Asn) c.5260C>A (p.His1754Asn) c.4384C>A (p.His1462Asn) c.4153C>A (p.His1385Asn) | COSMIC COSMIC COSMIC COSMIC |
10 | g.94298477C>G | CA377641862 | PLCE1 | c.4342C>G (p.His1448Asp) c.*1809C>G (n.*1809C>G) n.2001C>G n.685C>G c.*550C>G (n.*550C>G) c.4294C>G (p.His1432Asp) n.9474C>G n.2939C>G c.5134C>G (p.His1712Asp) c.5218C>G (p.His1740Asp) c.5266C>G (p.His1756Asp) c.4240C>G (p.His1414Asp) c.3821C>G c.3382C>G (p.His1128Asp) c.*1199C>G (n.*1199C>G) c.4535C>G c.4111C>G c.5308C>G (p.His1770Asp) c.5305C>G (p.His1769Asp) c.5260C>G (p.His1754Asp) c.4384C>G (p.His1462Asp) c.4153C>G (p.His1385Asp) | |
10 | g.94298477C>T | CA377641861 | PLCE1 | c.4342C>T (p.His1448Tyr) c.*1809C>T (n.*1809C>T) n.2001C>T n.685C>T c.*550C>T (n.*550C>T) c.4294C>T (p.His1432Tyr) n.9474C>T n.2939C>T c.5134C>T (p.His1712Tyr) c.5218C>T (p.His1740Tyr) c.5266C>T (p.His1756Tyr) c.4240C>T (p.His1414Tyr) c.3821C>T c.3382C>T (p.His1128Tyr) c.*1199C>T (n.*1199C>T) c.4535C>T c.4111C>T c.5308C>T (p.His1770Tyr) c.5305C>T (p.His1769Tyr) c.5260C>T (p.His1754Tyr) c.4384C>T (p.His1462Tyr) c.4153C>T (p.His1385Tyr) | |
10 | g.94298478A= | CA1928998408 | PLCE1 | c.4343A= (p.His1448=) c.*1810A= (n.*1810A=) n.2002A= n.686A= c.*551A= (n.*551A=) c.4295A= (p.His1432=) n.9475A= n.2940A= c.5135A= (p.His1712=) c.5219A= (p.His1740=) c.5267A= (p.His1756=) c.4241A= (p.His1414=) c.3822A= c.3383A= (p.His1128=) c.*1200A= (n.*1200A=) c.4536A= c.5309A= (p.His1770=) c.5306A= (p.His1769=) c.5261A= (p.His1754=) c.4385A= (p.His1462=) c.4154A= (p.His1385=) | |
10 | g.94298478A>C | CA377641863 | PLCE1 | c.4343A>C (p.His1448Pro) c.*1810A>C (n.*1810A>C) n.2002A>C n.686A>C c.*551A>C (n.*551A>C) c.4295A>C (p.His1432Pro) n.9475A>C n.2940A>C c.5135A>C (p.His1712Pro) c.5219A>C (p.His1740Pro) c.5267A>C (p.His1756Pro) c.4241A>C (p.His1414Pro) c.3822A>C c.3383A>C (p.His1128Pro) c.*1200A>C (n.*1200A>C) c.4536A>C c.5309A>C (p.His1770Pro) c.5306A>C (p.His1769Pro) c.5261A>C (p.His1754Pro) c.4385A>C (p.His1462Pro) c.4154A>C (p.His1385Pro) | |
10 | g.94298478A>G | CA5613324 | PLCE1 | c.4343A>G (p.His1448Arg) c.*1810A>G (n.*1810A>G) n.2002A>G n.686A>G c.*551A>G (n.*551A>G) c.4295A>G (p.His1432Arg) n.9475A>G n.2940A>G c.5135A>G (p.His1712Arg) c.5219A>G (p.His1740Arg) c.5267A>G (p.His1756Arg) c.4241A>G (p.His1414Arg) c.3822A>G c.3383A>G (p.His1128Arg) c.*1200A>G (n.*1200A>G) c.4536A>G c.5309A>G (p.His1770Arg) c.5306A>G (p.His1769Arg) c.5261A>G (p.His1754Arg) c.4385A>G (p.His1462Arg) c.4154A>G (p.His1385Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298478A>T | CA377641864 | PLCE1 | c.4343A>T (p.His1448Leu) c.*1810A>T (n.*1810A>T) n.2002A>T n.686A>T c.*551A>T (n.*551A>T) c.4295A>T (p.His1432Leu) n.9475A>T n.2940A>T c.5135A>T (p.His1712Leu) c.5219A>T (p.His1740Leu) c.5267A>T (p.His1756Leu) c.4241A>T (p.His1414Leu) c.3822A>T c.3383A>T (p.His1128Leu) c.*1200A>T (n.*1200A>T) c.4536A>T c.5309A>T (p.His1770Leu) c.5306A>T (p.His1769Leu) c.5261A>T (p.His1754Leu) c.4385A>T (p.His1462Leu) c.4154A>T (p.His1385Leu) | |
10 | g.94298479T>A | CA377641865 | PLCE1 | c.4344T>A (p.His1448Gln) c.*1811T>A (n.*1811T>A) n.2003T>A n.687T>A c.*552T>A (n.*552T>A) c.4296T>A (p.His1432Gln) n.9476T>A n.2941T>A c.5136T>A (p.His1712Gln) c.5220T>A (p.His1740Gln) c.5268T>A (p.His1756Gln) c.4242T>A (p.His1414Gln) c.3823T>A c.3384T>A (p.His1128Gln) c.*1201T>A (n.*1201T>A) c.4537T>A c.5310T>A (p.His1770Gln) c.5307T>A (p.His1769Gln) c.5262T>A (p.His1754Gln) c.4386T>A (p.His1462Gln) c.4155T>A (p.His1385Gln) | |
10 | g.94298479T>C | CA470986482 | PLCE1 | c.4344T>C (p.His1448=) c.*1811T>C (n.*1811T>C) n.2003T>C n.687T>C c.*552T>C (n.*552T>C) c.4296T>C (p.His1432=) n.9476T>C n.2941T>C c.5136T>C (p.His1712=) c.5220T>C (p.His1740=) c.5268T>C (p.His1756=) c.4242T>C (p.His1414=) c.3823T>C c.3384T>C (p.His1128=) c.*1201T>C (n.*1201T>C) c.4537T>C c.5310T>C (p.His1770=) c.5307T>C (p.His1769=) c.5262T>C (p.His1754=) c.4386T>C (p.His1462=) c.4155T>C (p.His1385=) | dbSNP gnomAD v4 |
10 | g.94298479T>G | CA377641866 | PLCE1 | c.4344T>G (p.His1448Gln) c.*1811T>G (n.*1811T>G) n.2003T>G n.687T>G c.*552T>G (n.*552T>G) c.4296T>G (p.His1432Gln) n.9476T>G n.2941T>G c.5136T>G (p.His1712Gln) c.5220T>G (p.His1740Gln) c.5268T>G (p.His1756Gln) c.4242T>G (p.His1414Gln) c.3823T>G c.3384T>G (p.His1128Gln) c.*1201T>G (n.*1201T>G) c.4537T>G c.5310T>G (p.His1770Gln) c.5307T>G (p.His1769Gln) c.5262T>G (p.His1754Gln) c.4386T>G (p.His1462Gln) c.4155T>G (p.His1385Gln) | |
10 | g.94298479T= | CA1928998409 | PLCE1 | c.4344T= (p.His1448=) c.*1811T= (n.*1811T=) n.2003T= n.687T= c.*552T= (n.*552T=) c.4296T= (p.His1432=) n.9476T= n.2941T= c.5136T= (p.His1712=) c.5220T= (p.His1740=) c.5268T= (p.His1756=) c.4242T= (p.His1414=) c.3823T= c.3384T= (p.His1128=) c.*1201T= (n.*1201T=) c.4537T= c.5310T= (p.His1770=) c.5307T= (p.His1769=) c.5262T= (p.His1754=) c.4386T= (p.His1462=) c.4155T= (p.His1385=) | |
10 | g.94298479dup | CA2610239639 | PLCE1 | c.4344dup (p.Ile1449TyrfsTer6) c.*1811dup (n.*1811dup) n.2003dup n.687dup c.*552dup (n.*552dup) c.4296dup (p.Ile1433TyrfsTer6) n.9476dup n.2941dup c.5136dup (p.Ile1713TyrfsTer6) c.5220dup (p.Ile1741TyrfsTer6) c.5268dup (p.Ile1757TyrfsTer6) c.4242dup (p.Ile1415TyrfsTer6) c.3823dup c.3384dup (p.Ile1129TyrfsTer6) c.*1201dup (n.*1201dup) c.4537dup c.5310dup (p.Ile1771TyrfsTer6) c.5307dup (p.Ile1770TyrfsTer6) c.5262dup (p.Ile1755TyrfsTer6) c.4386dup (p.Ile1463TyrfsTer6) c.4155dup (p.Ile1386TyrfsTer6) | gnomAD v4 |
10 | g.94298480A>C | CA377641867 | PLCE1 | c.4345A>C (p.Ile1449Leu) c.*1812A>C (n.*1812A>C) n.2004A>C n.688A>C c.*553A>C (n.*553A>C) c.4297A>C (p.Ile1433Leu) n.9477A>C n.2942A>C c.5137A>C (p.Ile1713Leu) c.5221A>C (p.Ile1741Leu) c.5269A>C (p.Ile1757Leu) c.4243A>C (p.Ile1415Leu) c.3824A>C c.3385A>C (p.Ile1129Leu) c.*1202A>C (n.*1202A>C) c.4538A>C c.5311A>C (p.Ile1771Leu) c.5308A>C (p.Ile1770Leu) c.5263A>C (p.Ile1755Leu) c.4387A>C (p.Ile1463Leu) c.4156A>C (p.Ile1386Leu) | |
10 | g.94298480A>G | CA377641868 | PLCE1 | c.4345A>G (p.Ile1449Val) c.*1812A>G (n.*1812A>G) n.2004A>G n.688A>G c.*553A>G (n.*553A>G) c.4297A>G (p.Ile1433Val) n.9477A>G n.2942A>G c.5137A>G (p.Ile1713Val) c.5221A>G (p.Ile1741Val) c.5269A>G (p.Ile1757Val) c.4243A>G (p.Ile1415Val) c.3824A>G c.3385A>G (p.Ile1129Val) c.*1202A>G (n.*1202A>G) c.4538A>G c.5311A>G (p.Ile1771Val) c.5308A>G (p.Ile1770Val) c.5263A>G (p.Ile1755Val) c.4387A>G (p.Ile1463Val) c.4156A>G (p.Ile1386Val) | gnomAD v4 |
10 | g.94298480A>T | CA377641869 | PLCE1 | c.4345A>T (p.Ile1449Phe) c.*1812A>T (n.*1812A>T) n.2004A>T n.688A>T c.*553A>T (n.*553A>T) c.4297A>T (p.Ile1433Phe) n.9477A>T n.2942A>T c.5137A>T (p.Ile1713Phe) c.5221A>T (p.Ile1741Phe) c.5269A>T (p.Ile1757Phe) c.4243A>T (p.Ile1415Phe) c.3824A>T c.3385A>T (p.Ile1129Phe) c.*1202A>T (n.*1202A>T) c.4538A>T c.5311A>T (p.Ile1771Phe) c.5308A>T (p.Ile1770Phe) c.5263A>T (p.Ile1755Phe) c.4387A>T (p.Ile1463Phe) c.4156A>T (p.Ile1386Phe) | |
10 | g.94298481T>A | CA377641870 | PLCE1 | c.4346T>A (p.Ile1449Asn) c.*1813T>A (n.*1813T>A) n.2005T>A n.689T>A c.*554T>A (n.*554T>A) c.4298T>A (p.Ile1433Asn) n.9478T>A n.2943T>A c.5138T>A (p.Ile1713Asn) c.5222T>A (p.Ile1741Asn) c.5270T>A (p.Ile1757Asn) c.4244T>A (p.Ile1415Asn) c.3825T>A c.3386T>A (p.Ile1129Asn) c.*1203T>A (n.*1203T>A) c.4539T>A c.5312T>A (p.Ile1771Asn) c.5309T>A (p.Ile1770Asn) c.5264T>A (p.Ile1755Asn) c.4388T>A (p.Ile1463Asn) c.4157T>A (p.Ile1386Asn) | gnomAD v4 |
10 | g.94298481T>C | CA377641871 | PLCE1 | c.4346T>C (p.Ile1449Thr) c.*1813T>C (n.*1813T>C) n.2005T>C n.689T>C c.*554T>C (n.*554T>C) c.4298T>C (p.Ile1433Thr) n.9478T>C n.2943T>C c.5138T>C (p.Ile1713Thr) c.5222T>C (p.Ile1741Thr) c.5270T>C (p.Ile1757Thr) c.4244T>C (p.Ile1415Thr) c.3825T>C c.3386T>C (p.Ile1129Thr) c.*1203T>C (n.*1203T>C) c.4539T>C c.5312T>C (p.Ile1771Thr) c.5309T>C (p.Ile1770Thr) c.5264T>C (p.Ile1755Thr) c.4388T>C (p.Ile1463Thr) c.4157T>C (p.Ile1386Thr) | |
10 | g.94298481T>G | CA377641872 | PLCE1 | c.4346T>G (p.Ile1449Ser) c.*1813T>G (n.*1813T>G) n.2005T>G n.689T>G c.*554T>G (n.*554T>G) c.4298T>G (p.Ile1433Ser) n.9478T>G n.2943T>G c.5138T>G (p.Ile1713Ser) c.5222T>G (p.Ile1741Ser) c.5270T>G (p.Ile1757Ser) c.4244T>G (p.Ile1415Ser) c.3825T>G c.3386T>G (p.Ile1129Ser) c.*1203T>G (n.*1203T>G) c.4539T>G c.5312T>G (p.Ile1771Ser) c.5309T>G (p.Ile1770Ser) c.5264T>G (p.Ile1755Ser) c.4388T>G (p.Ile1463Ser) c.4157T>G (p.Ile1386Ser) | |
10 | g.94298482C>A | CA470986483 | PLCE1 | c.4347C>A (p.Ile1449=) c.*1814C>A (n.*1814C>A) n.2006C>A n.690C>A c.*555C>A (n.*555C>A) c.4299C>A (p.Ile1433=) n.9479C>A n.2944C>A c.5139C>A (p.Ile1713=) c.5223C>A (p.Ile1741=) c.5271C>A (p.Ile1757=) c.4245C>A (p.Ile1415=) c.3826C>A c.3387C>A (p.Ile1129=) c.*1204C>A (n.*1204C>A) c.4540C>A c.5313C>A (p.Ile1771=) c.5310C>A (p.Ile1770=) c.5265C>A (p.Ile1755=) c.4389C>A (p.Ile1463=) c.4158C>A (p.Ile1386=) | |
10 | g.94298482C= | CA1928998410 | PLCE1 | c.4347C= (p.Ile1449=) c.*1814C= (n.*1814C=) n.2006C= n.690C= c.*555C= (n.*555C=) c.4299C= (p.Ile1433=) n.9479C= n.2944C= c.5139C= (p.Ile1713=) c.5223C= (p.Ile1741=) c.5271C= (p.Ile1757=) c.4245C= (p.Ile1415=) c.3826C= c.3387C= (p.Ile1129=) c.*1204C= (n.*1204C=) c.4540C= c.5313C= (p.Ile1771=) c.5310C= (p.Ile1770=) c.5265C= (p.Ile1755=) c.4389C= (p.Ile1463=) c.4158C= (p.Ile1386=) | |
10 | g.94298482C>G | CA377641873 | PLCE1 | c.4347C>G (p.Ile1449Met) c.*1814C>G (n.*1814C>G) n.2006C>G n.690C>G c.*555C>G (n.*555C>G) c.4299C>G (p.Ile1433Met) n.9479C>G n.2944C>G c.5139C>G (p.Ile1713Met) c.5223C>G (p.Ile1741Met) c.5271C>G (p.Ile1757Met) c.4245C>G (p.Ile1415Met) c.3826C>G c.3387C>G (p.Ile1129Met) c.*1204C>G (n.*1204C>G) c.4540C>G c.5313C>G (p.Ile1771Met) c.5310C>G (p.Ile1770Met) c.5265C>G (p.Ile1755Met) c.4389C>G (p.Ile1463Met) c.4158C>G (p.Ile1386Met) | |
10 | g.94298482C>T | CA211599649 | PLCE1 | c.4347C>T (p.Ile1449=) c.*1814C>T (n.*1814C>T) n.2006C>T n.690C>T c.*555C>T (n.*555C>T) c.4299C>T (p.Ile1433=) n.9479C>T n.2944C>T c.5139C>T (p.Ile1713=) c.5223C>T (p.Ile1741=) c.5271C>T (p.Ile1757=) c.4245C>T (p.Ile1415=) c.3826C>T c.3387C>T (p.Ile1129=) c.*1204C>T (n.*1204C>T) c.4540C>T c.5313C>T (p.Ile1771=) c.5310C>T (p.Ile1770=) c.5265C>T (p.Ile1755=) c.4389C>T (p.Ile1463=) c.4158C>T (p.Ile1386=) | dbSNP |
10 | g.94298483T>A | CA377641876 | PLCE1 | c.4348T>A (p.Ser1450Thr) c.*1815T>A (n.*1815T>A) n.2007T>A n.691T>A c.*556T>A (n.*556T>A) c.4300T>A (p.Ser1434Thr) n.9480T>A n.2945T>A c.5140T>A (p.Ser1714Thr) c.5224T>A (p.Ser1742Thr) c.5272T>A (p.Ser1758Thr) c.4246T>A (p.Ser1416Thr) c.3827T>A c.3388T>A (p.Ser1130Thr) c.*1205T>A (n.*1205T>A) c.4541T>A c.5314T>A (p.Ser1772Thr) c.5311T>A (p.Ser1771Thr) c.5266T>A (p.Ser1756Thr) c.4390T>A (p.Ser1464Thr) c.4159T>A (p.Ser1387Thr) | |
10 | g.94298483T>C | CA377641874 | PLCE1 | c.4348T>C (p.Ser1450Pro) c.*1815T>C (n.*1815T>C) n.2007T>C n.691T>C c.*556T>C (n.*556T>C) c.4300T>C (p.Ser1434Pro) n.9480T>C n.2945T>C c.5140T>C (p.Ser1714Pro) c.5224T>C (p.Ser1742Pro) c.5272T>C (p.Ser1758Pro) c.4246T>C (p.Ser1416Pro) c.3827T>C c.3388T>C (p.Ser1130Pro) c.*1205T>C (n.*1205T>C) c.4541T>C c.5314T>C (p.Ser1772Pro) c.5311T>C (p.Ser1771Pro) c.5266T>C (p.Ser1756Pro) c.4390T>C (p.Ser1464Pro) c.4159T>C (p.Ser1387Pro) | |
10 | g.94298483T>G | CA377641875 | PLCE1 | c.4348T>G (p.Ser1450Ala) c.*1815T>G (n.*1815T>G) n.2007T>G n.691T>G c.*556T>G (n.*556T>G) c.4300T>G (p.Ser1434Ala) n.9480T>G n.2945T>G c.5140T>G (p.Ser1714Ala) c.5224T>G (p.Ser1742Ala) c.5272T>G (p.Ser1758Ala) c.4246T>G (p.Ser1416Ala) c.3827T>G c.3388T>G (p.Ser1130Ala) c.*1205T>G (n.*1205T>G) c.4541T>G c.5314T>G (p.Ser1772Ala) c.5311T>G (p.Ser1771Ala) c.5266T>G (p.Ser1756Ala) c.4390T>G (p.Ser1464Ala) c.4159T>G (p.Ser1387Ala) | |
10 | g.94298484C>A | CA377641877 | PLCE1 | c.4349C>A (p.Ser1450Ter) c.*1816C>A (n.*1816C>A) n.2008C>A n.692C>A c.*557C>A (n.*557C>A) c.4301C>A (p.Ser1434Ter) n.9481C>A n.2946C>A c.5141C>A (p.Ser1714Ter) c.5225C>A (p.Ser1742Ter) c.5273C>A (p.Ser1758Ter) c.4247C>A (p.Ser1416Ter) c.3828C>A c.3389C>A (p.Ser1130Ter) c.*1206C>A (n.*1206C>A) c.4542C>A c.5315C>A (p.Ser1772Ter) c.5312C>A (p.Ser1771Ter) c.5267C>A (p.Ser1756Ter) c.4391C>A (p.Ser1464Ter) c.4160C>A (p.Ser1387Ter) | |
10 | g.94298484C>G | CA377641878 | PLCE1 | c.4349C>G (p.Ser1450Trp) c.*1816C>G (n.*1816C>G) n.2008C>G n.692C>G c.*557C>G (n.*557C>G) c.4301C>G (p.Ser1434Trp) n.9481C>G n.2946C>G c.5141C>G (p.Ser1714Trp) c.5225C>G (p.Ser1742Trp) c.5273C>G (p.Ser1758Trp) c.4247C>G (p.Ser1416Trp) c.3828C>G c.3389C>G (p.Ser1130Trp) c.*1206C>G (n.*1206C>G) c.4542C>G c.5315C>G (p.Ser1772Trp) c.5312C>G (p.Ser1771Trp) c.5267C>G (p.Ser1756Trp) c.4391C>G (p.Ser1464Trp) c.4160C>G (p.Ser1387Trp) | |
10 | g.94298484C>T | CA377641879 | PLCE1 | c.4349C>T (p.Ser1450Leu) c.*1816C>T (n.*1816C>T) n.2008C>T n.692C>T c.*557C>T (n.*557C>T) c.4301C>T (p.Ser1434Leu) n.9481C>T n.2946C>T c.5141C>T (p.Ser1714Leu) c.5225C>T (p.Ser1742Leu) c.5273C>T (p.Ser1758Leu) c.4247C>T (p.Ser1416Leu) c.3828C>T c.3389C>T (p.Ser1130Leu) c.*1206C>T (n.*1206C>T) c.4542C>T c.5315C>T (p.Ser1772Leu) c.5312C>T (p.Ser1771Leu) c.5267C>T (p.Ser1756Leu) c.4391C>T (p.Ser1464Leu) c.4160C>T (p.Ser1387Leu) | gnomAD v4 |
10 | g.94298485G>A | CA5613325 | PLCE1 | c.4350G>A (p.Ser1450=) c.*1817G>A (n.*1817G>A) n.2009G>A n.693G>A c.*558G>A (n.*558G>A) c.4302G>A (p.Ser1434=) n.9482G>A n.2947G>A c.5142G>A (p.Ser1714=) c.5226G>A (p.Ser1742=) c.5274G>A (p.Ser1758=) c.4248G>A (p.Ser1416=) c.3829G>A c.3390G>A (p.Ser1130=) c.*1207G>A (n.*1207G>A) c.4543G>A c.5316G>A (p.Ser1772=) c.5313G>A (p.Ser1771=) c.5268G>A (p.Ser1756=) c.4392G>A (p.Ser1464=) c.4161G>A (p.Ser1387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298485G>C | CA470986490 | PLCE1 | c.4350G>C (p.Ser1450=) c.*1817G>C (n.*1817G>C) n.2009G>C n.693G>C c.*558G>C (n.*558G>C) c.4302G>C (p.Ser1434=) n.9482G>C n.2947G>C c.5142G>C (p.Ser1714=) c.5226G>C (p.Ser1742=) c.5274G>C (p.Ser1758=) c.4248G>C (p.Ser1416=) c.3829G>C c.3390G>C (p.Ser1130=) c.*1207G>C (n.*1207G>C) c.4543G>C c.5316G>C (p.Ser1772=) c.5313G>C (p.Ser1771=) c.5268G>C (p.Ser1756=) c.4392G>C (p.Ser1464=) c.4161G>C (p.Ser1387=) | gnomAD v4 |
10 | g.94298485G= | CA1928998411 | PLCE1 | c.4350G= (p.Ser1450=) c.*1817G= (n.*1817G=) n.2009G= n.693G= c.*558G= (n.*558G=) c.4302G= (p.Ser1434=) n.9482G= n.2947G= c.5142G= (p.Ser1714=) c.5226G= (p.Ser1742=) c.5274G= (p.Ser1758=) c.4248G= (p.Ser1416=) c.3829G= c.3390G= (p.Ser1130=) c.*1207G= (n.*1207G=) c.4543G= c.5316G= (p.Ser1772=) c.5313G= (p.Ser1771=) c.5268G= (p.Ser1756=) c.4392G= (p.Ser1464=) c.4161G= (p.Ser1387=) | |
10 | g.94298485G>T | CA470986488 | PLCE1 | c.4350G>T (p.Ser1450=) c.*1817G>T (n.*1817G>T) n.2009G>T n.693G>T c.*558G>T (n.*558G>T) c.4302G>T (p.Ser1434=) n.9482G>T n.2947G>T c.5142G>T (p.Ser1714=) c.5226G>T (p.Ser1742=) c.5274G>T (p.Ser1758=) c.4248G>T (p.Ser1416=) c.3829G>T c.3390G>T (p.Ser1130=) c.*1207G>T (n.*1207G>T) c.4543G>T c.5316G>T (p.Ser1772=) c.5313G>T (p.Ser1771=) c.5268G>T (p.Ser1756=) c.4392G>T (p.Ser1464=) c.4161G>T (p.Ser1387=) | |
10 | g.94298486T>A | CA377641880 | PLCE1 | c.4351T>A (p.Ser1451Thr) c.*1818T>A (n.*1818T>A) n.2010T>A n.694T>A c.*559T>A (n.*559T>A) c.4303T>A (p.Ser1435Thr) n.9483T>A n.2948T>A c.5143T>A (p.Ser1715Thr) c.5227T>A (p.Ser1743Thr) c.5275T>A (p.Ser1759Thr) c.4249T>A (p.Ser1417Thr) c.3830T>A c.3391T>A (p.Ser1131Thr) c.*1208T>A (n.*1208T>A) c.4544T>A c.5317T>A (p.Ser1773Thr) c.5314T>A (p.Ser1772Thr) c.5269T>A (p.Ser1757Thr) c.4393T>A (p.Ser1465Thr) c.4162T>A (p.Ser1388Thr) | |
10 | g.94298486T>C | CA377641881 | PLCE1 | c.4351T>C (p.Ser1451Pro) c.*1818T>C (n.*1818T>C) n.2010T>C n.694T>C c.*559T>C (n.*559T>C) c.4303T>C (p.Ser1435Pro) n.9483T>C n.2948T>C c.5143T>C (p.Ser1715Pro) c.5227T>C (p.Ser1743Pro) c.5275T>C (p.Ser1759Pro) c.4249T>C (p.Ser1417Pro) c.3830T>C c.3391T>C (p.Ser1131Pro) c.*1208T>C (n.*1208T>C) c.4544T>C c.5317T>C (p.Ser1773Pro) c.5314T>C (p.Ser1772Pro) c.5269T>C (p.Ser1757Pro) c.4393T>C (p.Ser1465Pro) c.4162T>C (p.Ser1388Pro) | |
10 | g.94298486T>G | CA377641882 | PLCE1 | c.4351T>G (p.Ser1451Ala) c.*1818T>G (n.*1818T>G) n.2010T>G n.694T>G c.*559T>G (n.*559T>G) c.4303T>G (p.Ser1435Ala) n.9483T>G n.2948T>G c.5143T>G (p.Ser1715Ala) c.5227T>G (p.Ser1743Ala) c.5275T>G (p.Ser1759Ala) c.4249T>G (p.Ser1417Ala) c.3830T>G c.3391T>G (p.Ser1131Ala) c.*1208T>G (n.*1208T>G) c.4544T>G c.5317T>G (p.Ser1773Ala) c.5314T>G (p.Ser1772Ala) c.5269T>G (p.Ser1757Ala) c.4393T>G (p.Ser1465Ala) c.4162T>G (p.Ser1388Ala) | |
10 | g.94298487C>A | CA377641883 | PLCE1 | c.4352C>A (p.Ser1451Ter) c.*1819C>A (n.*1819C>A) n.2011C>A n.695C>A c.*560C>A (n.*560C>A) c.4304C>A (p.Ser1435Ter) n.9484C>A n.2949C>A c.5144C>A (p.Ser1715Ter) c.5228C>A (p.Ser1743Ter) c.5276C>A (p.Ser1759Ter) c.4250C>A (p.Ser1417Ter) c.3831C>A c.3392C>A (p.Ser1131Ter) c.*1209C>A (n.*1209C>A) c.4545C>A c.5318C>A (p.Ser1773Ter) c.5315C>A (p.Ser1772Ter) c.5270C>A (p.Ser1757Ter) c.4394C>A (p.Ser1465Ter) c.4163C>A (p.Ser1388Ter) | |
10 | g.94298487C= | CA1928998412 | PLCE1 | c.4352C= (p.Ser1451=) c.*1819C= (n.*1819C=) n.2011C= n.695C= c.*560C= (n.*560C=) c.4304C= (p.Ser1435=) n.9484C= n.2949C= c.5144C= (p.Ser1715=) c.5228C= (p.Ser1743=) c.5276C= (p.Ser1759=) c.4250C= (p.Ser1417=) c.3831C= c.3392C= (p.Ser1131=) c.*1209C= (n.*1209C=) c.4545C= c.5318C= (p.Ser1773=) c.5315C= (p.Ser1772=) c.5270C= (p.Ser1757=) c.4394C= (p.Ser1465=) c.4163C= (p.Ser1388=) | |
10 | g.94298487C>G | CA377641884 | PLCE1 | c.4352C>G (p.Ser1451Trp) c.*1819C>G (n.*1819C>G) n.2011C>G n.695C>G c.*560C>G (n.*560C>G) c.4304C>G (p.Ser1435Trp) n.9484C>G n.2949C>G c.5144C>G (p.Ser1715Trp) c.5228C>G (p.Ser1743Trp) c.5276C>G (p.Ser1759Trp) c.4250C>G (p.Ser1417Trp) c.3831C>G c.3392C>G (p.Ser1131Trp) c.*1209C>G (n.*1209C>G) c.4545C>G c.5318C>G (p.Ser1773Trp) c.5315C>G (p.Ser1772Trp) c.5270C>G (p.Ser1757Trp) c.4394C>G (p.Ser1465Trp) c.4163C>G (p.Ser1388Trp) | |
10 | g.94298487C>T | CA5613326 | PLCE1 | c.4352C>T (p.Ser1451Leu) c.*1819C>T (n.*1819C>T) n.2011C>T n.695C>T c.*560C>T (n.*560C>T) c.4304C>T (p.Ser1435Leu) n.9484C>T n.2949C>T c.5144C>T (p.Ser1715Leu) c.5228C>T (p.Ser1743Leu) c.5276C>T (p.Ser1759Leu) c.4250C>T (p.Ser1417Leu) c.3831C>T c.3392C>T (p.Ser1131Leu) c.*1209C>T (n.*1209C>T) c.4545C>T c.5318C>T (p.Ser1773Leu) c.5315C>T (p.Ser1772Leu) c.5270C>T (p.Ser1757Leu) c.4394C>T (p.Ser1465Leu) c.4163C>T (p.Ser1388Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298488G>A | CA211599657 | PLCE1 | c.4353G>A (p.Ser1451=) c.*1820G>A (n.*1820G>A) n.2012G>A n.696G>A c.*561G>A (n.*561G>A) c.4305G>A (p.Ser1435=) n.9485G>A n.2950G>A c.5145G>A (p.Ser1715=) c.5229G>A (p.Ser1743=) c.5277G>A (p.Ser1759=) c.4251G>A (p.Ser1417=) c.3832G>A c.3393G>A (p.Ser1131=) c.*1210G>A (n.*1210G>A) c.4546G>A c.5319G>A (p.Ser1773=) c.5316G>A (p.Ser1772=) c.5271G>A (p.Ser1757=) c.4395G>A (p.Ser1465=) c.4164G>A (p.Ser1388=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298488G>C | CA470986494 | PLCE1 | c.4353G>C (p.Ser1451=) c.*1820G>C (n.*1820G>C) n.2012G>C n.696G>C c.*561G>C (n.*561G>C) c.4305G>C (p.Ser1435=) n.9485G>C n.2950G>C c.5145G>C (p.Ser1715=) c.5229G>C (p.Ser1743=) c.5277G>C (p.Ser1759=) c.4251G>C (p.Ser1417=) c.3832G>C c.3393G>C (p.Ser1131=) c.*1210G>C (n.*1210G>C) c.4546G>C c.5319G>C (p.Ser1773=) c.5316G>C (p.Ser1772=) c.5271G>C (p.Ser1757=) c.4395G>C (p.Ser1465=) c.4164G>C (p.Ser1388=) | |
10 | g.94298488G= | CA1928998413 | PLCE1 | c.4353G= (p.Ser1451=) c.*1820G= (n.*1820G=) n.2012G= n.696G= c.*561G= (n.*561G=) c.4305G= (p.Ser1435=) n.9485G= n.2950G= c.5145G= (p.Ser1715=) c.5229G= (p.Ser1743=) c.5277G= (p.Ser1759=) c.4251G= (p.Ser1417=) c.3832G= c.3393G= (p.Ser1131=) c.*1210G= (n.*1210G=) c.4546G= c.5319G= (p.Ser1773=) c.5316G= (p.Ser1772=) c.5271G= (p.Ser1757=) c.4395G= (p.Ser1465=) c.4164G= (p.Ser1388=) | |
10 | g.94298488G>T | CA470986493 | PLCE1 | c.4353G>T (p.Ser1451=) c.*1820G>T (n.*1820G>T) n.2012G>T n.696G>T c.*561G>T (n.*561G>T) c.4305G>T (p.Ser1435=) n.9485G>T n.2950G>T c.5145G>T (p.Ser1715=) c.5229G>T (p.Ser1743=) c.5277G>T (p.Ser1759=) c.4251G>T (p.Ser1417=) c.3832G>T c.3393G>T (p.Ser1131=) c.*1210G>T (n.*1210G>T) c.4546G>T c.5319G>T (p.Ser1773=) c.5316G>T (p.Ser1772=) c.5271G>T (p.Ser1757=) c.4395G>T (p.Ser1465=) c.4164G>T (p.Ser1388=) | |
10 | g.94298489C>A | CA377641885 | PLCE1 | c.4354C>A (p.Leu1452Met) c.*1821C>A (n.*1821C>A) n.2013C>A n.697C>A c.*562C>A (n.*562C>A) c.4306C>A (p.Leu1436Met) n.9486C>A n.2951C>A c.5146C>A (p.Leu1716Met) c.5230C>A (p.Leu1744Met) c.5278C>A (p.Leu1760Met) c.4252C>A (p.Leu1418Met) c.3833C>A c.3394C>A (p.Leu1132Met) c.*1211C>A (n.*1211C>A) c.4547C>A c.5320C>A (p.Leu1774Met) c.5317C>A (p.Leu1773Met) c.5272C>A (p.Leu1758Met) c.4396C>A (p.Leu1466Met) c.4165C>A (p.Leu1389Met) | |
10 | g.94298489C= | CA1928998414 | PLCE1 | c.4354C= (p.Leu1452=) c.*1821C= (n.*1821C=) n.2013C= n.697C= c.*562C= (n.*562C=) c.4306C= (p.Leu1436=) n.9486C= n.2951C= c.5146C= (p.Leu1716=) c.5230C= (p.Leu1744=) c.5278C= (p.Leu1760=) c.4252C= (p.Leu1418=) c.3833C= c.3394C= (p.Leu1132=) c.*1211C= (n.*1211C=) c.4547C= c.5320C= (p.Leu1774=) c.5317C= (p.Leu1773=) c.5272C= (p.Leu1758=) c.4396C= (p.Leu1466=) c.4165C= (p.Leu1389=) | |
10 | g.94298489C>G | CA377641886 | PLCE1 | c.4354C>G (p.Leu1452Val) c.*1821C>G (n.*1821C>G) n.2013C>G n.697C>G c.*562C>G (n.*562C>G) c.4306C>G (p.Leu1436Val) n.9486C>G n.2951C>G c.5146C>G (p.Leu1716Val) c.5230C>G (p.Leu1744Val) c.5278C>G (p.Leu1760Val) c.4252C>G (p.Leu1418Val) c.3833C>G c.3394C>G (p.Leu1132Val) c.*1211C>G (n.*1211C>G) c.4547C>G c.5320C>G (p.Leu1774Val) c.5317C>G (p.Leu1773Val) c.5272C>G (p.Leu1758Val) c.4396C>G (p.Leu1466Val) c.4165C>G (p.Leu1389Val) | |
10 | g.94298489C>T | CA5613327 | PLCE1 | c.4354C>T (p.Leu1452=) c.*1821C>T (n.*1821C>T) n.2013C>T n.697C>T c.*562C>T (n.*562C>T) c.4306C>T (p.Leu1436=) n.9486C>T n.2951C>T c.5146C>T (p.Leu1716=) c.5230C>T (p.Leu1744=) c.5278C>T (p.Leu1760=) c.4252C>T (p.Leu1418=) c.3833C>T c.3394C>T (p.Leu1132=) c.*1211C>T (n.*1211C>T) c.4547C>T c.5320C>T (p.Leu1774=) c.5317C>T (p.Leu1773=) c.5272C>T (p.Leu1758=) c.4396C>T (p.Leu1466=) c.4165C>T (p.Leu1389=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298490T>A | CA377641887 | PLCE1 | c.4355T>A (p.Leu1452Gln) c.*1822T>A (n.*1822T>A) n.2014T>A n.698T>A c.*563T>A (n.*563T>A) c.4307T>A (p.Leu1436Gln) n.9487T>A n.2952T>A c.5147T>A (p.Leu1716Gln) c.5231T>A (p.Leu1744Gln) c.5279T>A (p.Leu1760Gln) c.4253T>A (p.Leu1418Gln) c.3834T>A c.3395T>A (p.Leu1132Gln) c.*1212T>A (n.*1212T>A) c.4548T>A c.5321T>A (p.Leu1774Gln) c.5318T>A (p.Leu1773Gln) c.5273T>A (p.Leu1758Gln) c.4397T>A (p.Leu1466Gln) c.4166T>A (p.Leu1389Gln) | |
10 | g.94298490T>C | CA377641889 | PLCE1 | c.4355T>C (p.Leu1452Pro) c.*1822T>C (n.*1822T>C) n.2014T>C n.698T>C c.*563T>C (n.*563T>C) c.4307T>C (p.Leu1436Pro) n.9487T>C n.2952T>C c.5147T>C (p.Leu1716Pro) c.5231T>C (p.Leu1744Pro) c.5279T>C (p.Leu1760Pro) c.4253T>C (p.Leu1418Pro) c.3834T>C c.3395T>C (p.Leu1132Pro) c.*1212T>C (n.*1212T>C) c.4548T>C c.5321T>C (p.Leu1774Pro) c.5318T>C (p.Leu1773Pro) c.5273T>C (p.Leu1758Pro) c.4397T>C (p.Leu1466Pro) c.4166T>C (p.Leu1389Pro) | |
10 | g.94298490T>G | CA377641888 | PLCE1 | c.4355T>G (p.Leu1452Arg) c.*1822T>G (n.*1822T>G) n.2014T>G n.698T>G c.*563T>G (n.*563T>G) c.4307T>G (p.Leu1436Arg) n.9487T>G n.2952T>G c.5147T>G (p.Leu1716Arg) c.5231T>G (p.Leu1744Arg) c.5279T>G (p.Leu1760Arg) c.4253T>G (p.Leu1418Arg) c.3834T>G c.3395T>G (p.Leu1132Arg) c.*1212T>G (n.*1212T>G) c.4548T>G c.5321T>G (p.Leu1774Arg) c.5318T>G (p.Leu1773Arg) c.5273T>G (p.Leu1758Arg) c.4397T>G (p.Leu1466Arg) c.4166T>G (p.Leu1389Arg) | |
10 | g.94298491G>A | CA470986495 | PLCE1 | c.4356G>A (p.Leu1452=) c.*1823G>A (n.*1823G>A) n.2015G>A n.699G>A c.*564G>A (n.*564G>A) c.4308G>A (p.Leu1436=) n.9488G>A n.2953G>A c.5148G>A (p.Leu1716=) c.5232G>A (p.Leu1744=) c.5280G>A (p.Leu1760=) c.4254G>A (p.Leu1418=) c.3835G>A c.3396G>A (p.Leu1132=) c.*1213G>A (n.*1213G>A) c.4549G>A c.5322G>A (p.Leu1774=) c.5319G>A (p.Leu1773=) c.5274G>A (p.Leu1758=) c.4398G>A (p.Leu1466=) c.4167G>A (p.Leu1389=) | |
10 | g.94298491G>C | CA470986496 | PLCE1 | c.4356G>C (p.Leu1452=) c.*1823G>C (n.*1823G>C) n.2015G>C n.699G>C c.*564G>C (n.*564G>C) c.4308G>C (p.Leu1436=) n.9488G>C n.2953G>C c.5148G>C (p.Leu1716=) c.5232G>C (p.Leu1744=) c.5280G>C (p.Leu1760=) c.4254G>C (p.Leu1418=) c.3835G>C c.3396G>C (p.Leu1132=) c.*1213G>C (n.*1213G>C) c.4549G>C c.5322G>C (p.Leu1774=) c.5319G>C (p.Leu1773=) c.5274G>C (p.Leu1758=) c.4398G>C (p.Leu1466=) c.4167G>C (p.Leu1389=) | |
10 | g.94298491G>T | CA470986497 | PLCE1 | c.4356G>T (p.Leu1452=) c.*1823G>T (n.*1823G>T) n.2015G>T n.699G>T c.*564G>T (n.*564G>T) c.4308G>T (p.Leu1436=) n.9488G>T n.2953G>T c.5148G>T (p.Leu1716=) c.5232G>T (p.Leu1744=) c.5280G>T (p.Leu1760=) c.4254G>T (p.Leu1418=) c.3835G>T c.3396G>T (p.Leu1132=) c.*1213G>T (n.*1213G>T) c.4549G>T c.5322G>T (p.Leu1774=) c.5319G>T (p.Leu1773=) c.5274G>T (p.Leu1758=) c.4398G>T (p.Leu1466=) c.4167G>T (p.Leu1389=) | |
10 | g.94298492A>C | CA377641890 | PLCE1 | c.4357A>C (p.Asn1453His) c.*1824A>C (n.*1824A>C) n.2016A>C n.700A>C c.*565A>C (n.*565A>C) c.4309A>C (p.Asn1437His) n.9489A>C n.2954A>C c.5149A>C (p.Asn1717His) c.5233A>C (p.Asn1745His) c.5281A>C (p.Asn1761His) c.4255A>C (p.Asn1419His) c.3836A>C c.3397A>C (p.Asn1133His) c.*1214A>C (n.*1214A>C) c.4550A>C c.5323A>C (p.Asn1775His) c.5320A>C (p.Asn1774His) c.5275A>C (p.Asn1759His) c.4399A>C (p.Asn1467His) c.4168A>C (p.Asn1390His) | gnomAD v4 |
10 | g.94298492A>G | CA377641891 | PLCE1 | c.4357A>G (p.Asn1453Asp) c.*1824A>G (n.*1824A>G) n.2016A>G n.700A>G c.*565A>G (n.*565A>G) c.4309A>G (p.Asn1437Asp) n.9489A>G n.2954A>G c.5149A>G (p.Asn1717Asp) c.5233A>G (p.Asn1745Asp) c.5281A>G (p.Asn1761Asp) c.4255A>G (p.Asn1419Asp) c.3836A>G c.3397A>G (p.Asn1133Asp) c.*1214A>G (n.*1214A>G) c.4550A>G c.5323A>G (p.Asn1775Asp) c.5320A>G (p.Asn1774Asp) c.5275A>G (p.Asn1759Asp) c.4399A>G (p.Asn1467Asp) c.4168A>G (p.Asn1390Asp) | |
10 | g.94298492A>T | CA377641892 | PLCE1 | c.4357A>T (p.Asn1453Tyr) c.*1824A>T (n.*1824A>T) n.2016A>T n.700A>T c.*565A>T (n.*565A>T) c.4309A>T (p.Asn1437Tyr) n.9489A>T n.2954A>T c.5149A>T (p.Asn1717Tyr) c.5233A>T (p.Asn1745Tyr) c.5281A>T (p.Asn1761Tyr) c.4255A>T (p.Asn1419Tyr) c.3836A>T c.3397A>T (p.Asn1133Tyr) c.*1214A>T (n.*1214A>T) c.4550A>T c.5323A>T (p.Asn1775Tyr) c.5320A>T (p.Asn1774Tyr) c.5275A>T (p.Asn1759Tyr) c.4399A>T (p.Asn1467Tyr) c.4168A>T (p.Asn1390Tyr) | |
10 | g.94298493A>C | CA377641893 | PLCE1 | c.4358A>C (p.Asn1453Thr) c.*1825A>C (n.*1825A>C) n.2017A>C n.701A>C c.*566A>C (n.*566A>C) c.4310A>C (p.Asn1437Thr) n.9490A>C n.2955A>C c.5150A>C (p.Asn1717Thr) c.5234A>C (p.Asn1745Thr) c.5282A>C (p.Asn1761Thr) c.4256A>C (p.Asn1419Thr) c.3837A>C c.3398A>C (p.Asn1133Thr) c.*1215A>C (n.*1215A>C) c.4551A>C c.5324A>C (p.Asn1775Thr) c.5321A>C (p.Asn1774Thr) c.5276A>C (p.Asn1759Thr) c.4400A>C (p.Asn1467Thr) c.4169A>C (p.Asn1390Thr) | |
10 | g.94298493A>G | CA377641894 | PLCE1 | c.4358A>G (p.Asn1453Ser) c.*1825A>G (n.*1825A>G) n.2017A>G n.701A>G c.*566A>G (n.*566A>G) c.4310A>G (p.Asn1437Ser) n.9490A>G n.2955A>G c.5150A>G (p.Asn1717Ser) c.5234A>G (p.Asn1745Ser) c.5282A>G (p.Asn1761Ser) c.4256A>G (p.Asn1419Ser) c.3837A>G c.3398A>G (p.Asn1133Ser) c.*1215A>G (n.*1215A>G) c.4551A>G c.5324A>G (p.Asn1775Ser) c.5321A>G (p.Asn1774Ser) c.5276A>G (p.Asn1759Ser) c.4400A>G (p.Asn1467Ser) c.4169A>G (p.Asn1390Ser) | |
10 | g.94298493A>T | CA377641895 | PLCE1 | c.4358A>T (p.Asn1453Ile) c.*1825A>T (n.*1825A>T) n.2017A>T n.701A>T c.*566A>T (n.*566A>T) c.4310A>T (p.Asn1437Ile) n.9490A>T n.2955A>T c.5150A>T (p.Asn1717Ile) c.5234A>T (p.Asn1745Ile) c.5282A>T (p.Asn1761Ile) c.4256A>T (p.Asn1419Ile) c.3837A>T c.3398A>T (p.Asn1133Ile) c.*1215A>T (n.*1215A>T) c.4551A>T c.5324A>T (p.Asn1775Ile) c.5321A>T (p.Asn1774Ile) c.5276A>T (p.Asn1759Ile) c.4400A>T (p.Asn1467Ile) c.4169A>T (p.Asn1390Ile) | |
10 | g.94298494T>A | CA377641896 | PLCE1 | c.4359T>A (p.Asn1453Lys) c.*1826T>A (n.*1826T>A) n.2018T>A n.702T>A c.*567T>A (n.*567T>A) c.4311T>A (p.Asn1437Lys) n.9491T>A n.2956T>A c.5151T>A (p.Asn1717Lys) c.5235T>A (p.Asn1745Lys) c.5283T>A (p.Asn1761Lys) c.4257T>A (p.Asn1419Lys) c.3838T>A c.3399T>A (p.Asn1133Lys) c.*1216T>A (n.*1216T>A) c.4552T>A c.5325T>A (p.Asn1775Lys) c.5322T>A (p.Asn1774Lys) c.5277T>A (p.Asn1759Lys) c.4401T>A (p.Asn1467Lys) c.4170T>A (p.Asn1390Lys) | |
10 | g.94298494T>C | CA211599662 | PLCE1 | c.4359T>C (p.Asn1453=) c.*1826T>C (n.*1826T>C) n.2018T>C n.702T>C c.*567T>C (n.*567T>C) c.4311T>C (p.Asn1437=) n.9491T>C n.2956T>C c.5151T>C (p.Asn1717=) c.5235T>C (p.Asn1745=) c.5283T>C (p.Asn1761=) c.4257T>C (p.Asn1419=) c.3838T>C c.3399T>C (p.Asn1133=) c.*1216T>C (n.*1216T>C) c.4552T>C c.5325T>C (p.Asn1775=) c.5322T>C (p.Asn1774=) c.5277T>C (p.Asn1759=) c.4401T>C (p.Asn1467=) c.4170T>C (p.Asn1390=) | dbSNP |
10 | g.94298494T>G | CA377641897 | PLCE1 | c.4359T>G (p.Asn1453Lys) c.*1826T>G (n.*1826T>G) n.2018T>G n.702T>G c.*567T>G (n.*567T>G) c.4311T>G (p.Asn1437Lys) n.9491T>G n.2956T>G c.5151T>G (p.Asn1717Lys) c.5235T>G (p.Asn1745Lys) c.5283T>G (p.Asn1761Lys) c.4257T>G (p.Asn1419Lys) c.3838T>G c.3399T>G (p.Asn1133Lys) c.*1216T>G (n.*1216T>G) c.4552T>G c.5325T>G (p.Asn1775Lys) c.5322T>G (p.Asn1774Lys) c.5277T>G (p.Asn1759Lys) c.4401T>G (p.Asn1467Lys) c.4170T>G (p.Asn1390Lys) | |
10 | g.94298494T= | CA1928998415 | PLCE1 | c.4359T= (p.Asn1453=) c.*1826T= (n.*1826T=) n.2018T= n.702T= c.*567T= (n.*567T=) c.4311T= (p.Asn1437=) n.9491T= n.2956T= c.5151T= (p.Asn1717=) c.5235T= (p.Asn1745=) c.5283T= (p.Asn1761=) c.4257T= (p.Asn1419=) c.3838T= c.3399T= (p.Asn1133=) c.*1216T= (n.*1216T=) c.4552T= c.5325T= (p.Asn1775=) c.5322T= (p.Asn1774=) c.5277T= (p.Asn1759=) c.4401T= (p.Asn1467=) c.4170T= (p.Asn1390=) | |
10 | g.94298495G>A | CA377641898 | PLCE1 | c.4360G>A (p.Glu1454Lys) c.*1827G>A (n.*1827G>A) n.2019G>A n.703G>A c.*568G>A (n.*568G>A) c.4312G>A (p.Glu1438Lys) n.9492G>A n.2957G>A c.5152G>A (p.Glu1718Lys) c.5236G>A (p.Glu1746Lys) c.5284G>A (p.Glu1762Lys) c.4258G>A (p.Glu1420Lys) c.3839G>A c.3400G>A (p.Glu1134Lys) c.*1217G>A (n.*1217G>A) c.4553G>A c.5326G>A (p.Glu1776Lys) c.5323G>A (p.Glu1775Lys) c.5278G>A (p.Glu1760Lys) c.4402G>A (p.Glu1468Lys) c.4171G>A (p.Glu1391Lys) | |
10 | g.94298495G>C | CA377641899 | PLCE1 | c.4360G>C (p.Glu1454Gln) c.*1827G>C (n.*1827G>C) n.2019G>C n.703G>C c.*568G>C (n.*568G>C) c.4312G>C (p.Glu1438Gln) n.9492G>C n.2957G>C c.5152G>C (p.Glu1718Gln) c.5236G>C (p.Glu1746Gln) c.5284G>C (p.Glu1762Gln) c.4258G>C (p.Glu1420Gln) c.3839G>C c.3400G>C (p.Glu1134Gln) c.*1217G>C (n.*1217G>C) c.4553G>C c.5326G>C (p.Glu1776Gln) c.5323G>C (p.Glu1775Gln) c.5278G>C (p.Glu1760Gln) c.4402G>C (p.Glu1468Gln) c.4171G>C (p.Glu1391Gln) | |
10 | g.94298495G>T | CA377641900 | PLCE1 | c.4360G>T (p.Glu1454Ter) c.*1827G>T (n.*1827G>T) n.2019G>T n.703G>T c.*568G>T (n.*568G>T) c.4312G>T (p.Glu1438Ter) n.9492G>T n.2957G>T c.5152G>T (p.Glu1718Ter) c.5236G>T (p.Glu1746Ter) c.5284G>T (p.Glu1762Ter) c.4258G>T (p.Glu1420Ter) c.3839G>T c.3400G>T (p.Glu1134Ter) c.*1217G>T (n.*1217G>T) c.4553G>T c.5326G>T (p.Glu1776Ter) c.5323G>T (p.Glu1775Ter) c.5278G>T (p.Glu1760Ter) c.4402G>T (p.Glu1468Ter) c.4171G>T (p.Glu1391Ter) | |
10 | g.94298496A>C | CA377641903 | PLCE1 | c.4361A>C (p.Glu1454Ala) c.*1828A>C (n.*1828A>C) n.2020A>C n.704A>C c.*569A>C (n.*569A>C) c.4313A>C (p.Glu1438Ala) n.9493A>C n.2958A>C c.5153A>C (p.Glu1718Ala) c.5237A>C (p.Glu1746Ala) c.5285A>C (p.Glu1762Ala) c.4259A>C (p.Glu1420Ala) c.3840A>C c.3401A>C (p.Glu1134Ala) c.*1218A>C (n.*1218A>C) c.4554A>C c.5327A>C (p.Glu1776Ala) c.5324A>C (p.Glu1775Ala) c.5279A>C (p.Glu1760Ala) c.4403A>C (p.Glu1468Ala) c.4172A>C (p.Glu1391Ala) | |
10 | g.94298496A>G | CA377641901 | PLCE1 | c.4361A>G (p.Glu1454Gly) c.*1828A>G (n.*1828A>G) n.2020A>G n.704A>G c.*569A>G (n.*569A>G) c.4313A>G (p.Glu1438Gly) n.9493A>G n.2958A>G c.5153A>G (p.Glu1718Gly) c.5237A>G (p.Glu1746Gly) c.5285A>G (p.Glu1762Gly) c.4259A>G (p.Glu1420Gly) c.3840A>G c.3401A>G (p.Glu1134Gly) c.*1218A>G (n.*1218A>G) c.4554A>G c.5327A>G (p.Glu1776Gly) c.5324A>G (p.Glu1775Gly) c.5279A>G (p.Glu1760Gly) c.4403A>G (p.Glu1468Gly) c.4172A>G (p.Glu1391Gly) | |
10 | g.94298496A>T | CA377641902 | PLCE1 | c.4361A>T (p.Glu1454Val) c.*1828A>T (n.*1828A>T) n.2020A>T n.704A>T c.*569A>T (n.*569A>T) c.4313A>T (p.Glu1438Val) n.9493A>T n.2958A>T c.5153A>T (p.Glu1718Val) c.5237A>T (p.Glu1746Val) c.5285A>T (p.Glu1762Val) c.4259A>T (p.Glu1420Val) c.3840A>T c.3401A>T (p.Glu1134Val) c.*1218A>T (n.*1218A>T) c.4554A>T c.5327A>T (p.Glu1776Val) c.5324A>T (p.Glu1775Val) c.5279A>T (p.Glu1760Val) c.4403A>T (p.Glu1468Val) c.4172A>T (p.Glu1391Val) | |
10 | g.94298497A>C | CA377641904 | PLCE1 | c.4362A>C (p.Glu1454Asp) c.*1829A>C (n.*1829A>C) n.2021A>C n.705A>C c.*570A>C (n.*570A>C) c.4314A>C (p.Glu1438Asp) n.9494A>C n.2959A>C c.5154A>C (p.Glu1718Asp) c.5238A>C (p.Glu1746Asp) c.5286A>C (p.Glu1762Asp) c.4260A>C (p.Glu1420Asp) c.3841A>C c.3402A>C (p.Glu1134Asp) c.*1219A>C (n.*1219A>C) c.4555A>C c.5328A>C (p.Glu1776Asp) c.5325A>C (p.Glu1775Asp) c.5280A>C (p.Glu1760Asp) c.4404A>C (p.Glu1468Asp) c.4173A>C (p.Glu1391Asp) | |
10 | g.94298497A>G | CA470986502 | PLCE1 | c.4362A>G (p.Glu1454=) c.*1829A>G (n.*1829A>G) n.2021A>G n.705A>G c.*570A>G (n.*570A>G) c.4314A>G (p.Glu1438=) n.9494A>G n.2959A>G c.5154A>G (p.Glu1718=) c.5238A>G (p.Glu1746=) c.5286A>G (p.Glu1762=) c.4260A>G (p.Glu1420=) c.3841A>G c.3402A>G (p.Glu1134=) c.*1219A>G (n.*1219A>G) c.4555A>G c.5328A>G (p.Glu1776=) c.5325A>G (p.Glu1775=) c.5280A>G (p.Glu1760=) c.4404A>G (p.Glu1468=) c.4173A>G (p.Glu1391=) | |
10 | g.94298497A>T | CA377641905 | PLCE1 | c.4362A>T (p.Glu1454Asp) c.*1829A>T (n.*1829A>T) n.2021A>T n.705A>T c.*570A>T (n.*570A>T) c.4314A>T (p.Glu1438Asp) n.9494A>T n.2959A>T c.5154A>T (p.Glu1718Asp) c.5238A>T (p.Glu1746Asp) c.5286A>T (p.Glu1762Asp) c.4260A>T (p.Glu1420Asp) c.3841A>T c.3402A>T (p.Glu1134Asp) c.*1219A>T (n.*1219A>T) c.4555A>T c.5328A>T (p.Glu1776Asp) c.5325A>T (p.Glu1775Asp) c.5280A>T (p.Glu1760Asp) c.4404A>T (p.Glu1468Asp) c.4173A>T (p.Glu1391Asp) | |
10 | g.94298498A>C | CA377641906 | PLCE1 | c.4363A>C (p.Asn1455His) c.*1830A>C (n.*1830A>C) n.2022A>C n.706A>C c.*571A>C (n.*571A>C) c.4315A>C (p.Asn1439His) n.9495A>C n.2960A>C c.5155A>C (p.Asn1719His) c.5239A>C (p.Asn1747His) c.5287A>C (p.Asn1763His) c.4261A>C (p.Asn1421His) c.3842A>C c.3403A>C (p.Asn1135His) c.*1220A>C (n.*1220A>C) c.4556A>C c.5329A>C (p.Asn1777His) c.5326A>C (p.Asn1776His) c.5281A>C (p.Asn1761His) c.4405A>C (p.Asn1469His) c.4174A>C (p.Asn1392His) | |
10 | g.94298498A>G | CA377641907 | PLCE1 | c.4363A>G (p.Asn1455Asp) c.*1830A>G (n.*1830A>G) n.2022A>G n.706A>G c.*571A>G (n.*571A>G) c.4315A>G (p.Asn1439Asp) n.9495A>G n.2960A>G c.5155A>G (p.Asn1719Asp) c.5239A>G (p.Asn1747Asp) c.5287A>G (p.Asn1763Asp) c.4261A>G (p.Asn1421Asp) c.3842A>G c.3403A>G (p.Asn1135Asp) c.*1220A>G (n.*1220A>G) c.4556A>G c.5329A>G (p.Asn1777Asp) c.5326A>G (p.Asn1776Asp) c.5281A>G (p.Asn1761Asp) c.4405A>G (p.Asn1469Asp) c.4174A>G (p.Asn1392Asp) | |
10 | g.94298498A>T | CA377641908 | PLCE1 | c.4363A>T (p.Asn1455Tyr) c.*1830A>T (n.*1830A>T) n.2022A>T n.706A>T c.*571A>T (n.*571A>T) c.4315A>T (p.Asn1439Tyr) n.9495A>T n.2960A>T c.5155A>T (p.Asn1719Tyr) c.5239A>T (p.Asn1747Tyr) c.5287A>T (p.Asn1763Tyr) c.4261A>T (p.Asn1421Tyr) c.3842A>T c.3403A>T (p.Asn1135Tyr) c.*1220A>T (n.*1220A>T) c.4556A>T c.5329A>T (p.Asn1777Tyr) c.5326A>T (p.Asn1776Tyr) c.5281A>T (p.Asn1761Tyr) c.4405A>T (p.Asn1469Tyr) c.4174A>T (p.Asn1392Tyr) | |
10 | g.94298499A= | CA1928998416 | PLCE1 | c.4364A= (p.Asn1455=) c.*1831A= (n.*1831A=) n.2023A= n.707A= c.*572A= (n.*572A=) c.4316A= (p.Asn1439=) n.9496A= n.2961A= c.5156A= (p.Asn1719=) c.5240A= (p.Asn1747=) c.5288A= (p.Asn1763=) c.4262A= (p.Asn1421=) c.3843A= c.3404A= (p.Asn1135=) c.*1221A= (n.*1221A=) c.4557A= c.5330A= (p.Asn1777=) c.5327A= (p.Asn1776=) c.5282A= (p.Asn1761=) c.4406A= (p.Asn1469=) c.4175A= (p.Asn1392=) | |
10 | g.94298499A>C | CA377641909 | PLCE1 | c.4364A>C (p.Asn1455Thr) c.*1831A>C (n.*1831A>C) n.2023A>C n.707A>C c.*572A>C (n.*572A>C) c.4316A>C (p.Asn1439Thr) n.9496A>C n.2961A>C c.5156A>C (p.Asn1719Thr) c.5240A>C (p.Asn1747Thr) c.5288A>C (p.Asn1763Thr) c.4262A>C (p.Asn1421Thr) c.3843A>C c.3404A>C (p.Asn1135Thr) c.*1221A>C (n.*1221A>C) c.4557A>C c.5330A>C (p.Asn1777Thr) c.5327A>C (p.Asn1776Thr) c.5282A>C (p.Asn1761Thr) c.4406A>C (p.Asn1469Thr) c.4175A>C (p.Asn1392Thr) | |
10 | g.94298499A>G | CA377641910 | PLCE1 | c.4364A>G (p.Asn1455Ser) c.*1831A>G (n.*1831A>G) n.2023A>G n.707A>G c.*572A>G (n.*572A>G) c.4316A>G (p.Asn1439Ser) n.9496A>G n.2961A>G c.5156A>G (p.Asn1719Ser) c.5240A>G (p.Asn1747Ser) c.5288A>G (p.Asn1763Ser) c.4262A>G (p.Asn1421Ser) c.3843A>G c.3404A>G (p.Asn1135Ser) c.*1221A>G (n.*1221A>G) c.4557A>G c.5330A>G (p.Asn1777Ser) c.5327A>G (p.Asn1776Ser) c.5282A>G (p.Asn1761Ser) c.4406A>G (p.Asn1469Ser) c.4175A>G (p.Asn1392Ser) | |
10 | g.94298499A>T | CA377641911 | PLCE1 | c.4364A>T (p.Asn1455Ile) c.*1831A>T (n.*1831A>T) n.2023A>T n.707A>T c.*572A>T (n.*572A>T) c.4316A>T (p.Asn1439Ile) n.9496A>T n.2961A>T c.5156A>T (p.Asn1719Ile) c.5240A>T (p.Asn1747Ile) c.5288A>T (p.Asn1763Ile) c.4262A>T (p.Asn1421Ile) c.3843A>T c.3404A>T (p.Asn1135Ile) c.*1221A>T (n.*1221A>T) c.4557A>T c.5330A>T (p.Asn1777Ile) c.5327A>T (p.Asn1776Ile) c.5282A>T (p.Asn1761Ile) c.4406A>T (p.Asn1469Ile) c.4175A>T (p.Asn1392Ile) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298500T>A | CA377641912 | PLCE1 | c.4365T>A (p.Asn1455Lys) c.*1832T>A (n.*1832T>A) n.2024T>A n.708T>A c.*573T>A (n.*573T>A) c.4317T>A (p.Asn1439Lys) n.9497T>A n.2962T>A c.5157T>A (p.Asn1719Lys) c.5241T>A (p.Asn1747Lys) c.5289T>A (p.Asn1763Lys) c.4263T>A (p.Asn1421Lys) c.3844T>A c.3405T>A (p.Asn1135Lys) c.*1222T>A (n.*1222T>A) c.4558T>A c.5331T>A (p.Asn1777Lys) c.5328T>A (p.Asn1776Lys) c.5283T>A (p.Asn1761Lys) c.4407T>A (p.Asn1469Lys) c.4176T>A (p.Asn1392Lys) | |
10 | g.94298500T>C | CA470986507 | PLCE1 | c.4365T>C (p.Asn1455=) c.*1832T>C (n.*1832T>C) n.2024T>C n.708T>C c.*573T>C (n.*573T>C) c.4317T>C (p.Asn1439=) n.9497T>C n.2962T>C c.5157T>C (p.Asn1719=) c.5241T>C (p.Asn1747=) c.5289T>C (p.Asn1763=) c.4263T>C (p.Asn1421=) c.3844T>C c.3405T>C (p.Asn1135=) c.*1222T>C (n.*1222T>C) c.4558T>C c.5331T>C (p.Asn1777=) c.5328T>C (p.Asn1776=) c.5283T>C (p.Asn1761=) c.4407T>C (p.Asn1469=) c.4176T>C (p.Asn1392=) | |
10 | g.94298500T>G | CA377641913 | PLCE1 | c.4365T>G (p.Asn1455Lys) c.*1832T>G (n.*1832T>G) n.2024T>G n.708T>G c.*573T>G (n.*573T>G) c.4317T>G (p.Asn1439Lys) n.9497T>G n.2962T>G c.5157T>G (p.Asn1719Lys) c.5241T>G (p.Asn1747Lys) c.5289T>G (p.Asn1763Lys) c.4263T>G (p.Asn1421Lys) c.3844T>G c.3405T>G (p.Asn1135Lys) c.*1222T>G (n.*1222T>G) c.4558T>G c.5331T>G (p.Asn1777Lys) c.5328T>G (p.Asn1776Lys) c.5283T>G (p.Asn1761Lys) c.4407T>G (p.Asn1469Lys) c.4176T>G (p.Asn1392Lys) | |
10 | g.94298501G>A | CA377641915 | PLCE1 | c.4366G>A (p.Ala1456Thr) c.*1833G>A (n.*1833G>A) n.2025G>A n.709G>A c.*574G>A (n.*574G>A) c.4318G>A (p.Ala1440Thr) n.9498G>A n.2963G>A c.5158G>A (p.Ala1720Thr) c.5242G>A (p.Ala1748Thr) c.5290G>A (p.Ala1764Thr) c.4264G>A (p.Ala1422Thr) c.3845G>A c.3406G>A (p.Ala1136Thr) c.*1223G>A (n.*1223G>A) c.4559G>A c.5332G>A (p.Ala1778Thr) c.5329G>A (p.Ala1777Thr) c.5284G>A (p.Ala1762Thr) c.4408G>A (p.Ala1470Thr) c.4177G>A (p.Ala1393Thr) | |
10 | g.94298501G>C | CA377641914 | PLCE1 | c.4366G>C (p.Ala1456Pro) c.*1833G>C (n.*1833G>C) n.2025G>C n.709G>C c.*574G>C (n.*574G>C) c.4318G>C (p.Ala1440Pro) n.9498G>C n.2963G>C c.5158G>C (p.Ala1720Pro) c.5242G>C (p.Ala1748Pro) c.5290G>C (p.Ala1764Pro) c.4264G>C (p.Ala1422Pro) c.3845G>C c.3406G>C (p.Ala1136Pro) c.*1223G>C (n.*1223G>C) c.4559G>C c.5332G>C (p.Ala1778Pro) c.5329G>C (p.Ala1777Pro) c.5284G>C (p.Ala1762Pro) c.4408G>C (p.Ala1470Pro) c.4177G>C (p.Ala1393Pro) | |
10 | g.94298501G= | CA1928998417 | PLCE1 | c.4366G= (p.Ala1456=) c.*1833G= (n.*1833G=) n.2025G= n.709G= c.*574G= (n.*574G=) c.4318G= (p.Ala1440=) n.9498G= n.2963G= c.5158G= (p.Ala1720=) c.5242G= (p.Ala1748=) c.5290G= (p.Ala1764=) c.4264G= (p.Ala1422=) c.3845G= c.3406G= (p.Ala1136=) c.*1223G= (n.*1223G=) c.4559G= c.5332G= (p.Ala1778=) c.5329G= (p.Ala1777=) c.5284G= (p.Ala1762=) c.4408G= (p.Ala1470=) c.4177G= (p.Ala1393=) | |
10 | g.94298501G>T | CA5613328 | PLCE1 | c.4366G>T (p.Ala1456Ser) c.*1833G>T (n.*1833G>T) n.2025G>T n.709G>T c.*574G>T (n.*574G>T) c.4318G>T (p.Ala1440Ser) n.9498G>T n.2963G>T c.5158G>T (p.Ala1720Ser) c.5242G>T (p.Ala1748Ser) c.5290G>T (p.Ala1764Ser) c.4264G>T (p.Ala1422Ser) c.3845G>T c.3406G>T (p.Ala1136Ser) c.*1223G>T (n.*1223G>T) c.4559G>T c.5332G>T (p.Ala1778Ser) c.5329G>T (p.Ala1777Ser) c.5284G>T (p.Ala1762Ser) c.4408G>T (p.Ala1470Ser) c.4177G>T (p.Ala1393Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298502C>A | CA377641916 | PLCE1 | c.4367C>A (p.Ala1456Asp) c.*1834C>A (n.*1834C>A) n.2026C>A n.710C>A c.*575C>A (n.*575C>A) c.4319C>A (p.Ala1440Asp) n.9499C>A n.2964C>A c.5159C>A (p.Ala1720Asp) c.5243C>A (p.Ala1748Asp) c.5291C>A (p.Ala1764Asp) c.4265C>A (p.Ala1422Asp) c.3846C>A c.3407C>A (p.Ala1136Asp) c.*1224C>A (n.*1224C>A) c.4560C>A c.5333C>A (p.Ala1778Asp) c.5330C>A (p.Ala1777Asp) c.5285C>A (p.Ala1762Asp) c.4409C>A (p.Ala1470Asp) c.4178C>A (p.Ala1393Asp) | gnomAD v4 |
10 | g.94298502C>G | CA377641917 | PLCE1 | c.4367C>G (p.Ala1456Gly) c.*1834C>G (n.*1834C>G) n.2026C>G n.710C>G c.*575C>G (n.*575C>G) c.4319C>G (p.Ala1440Gly) n.9499C>G n.2964C>G c.5159C>G (p.Ala1720Gly) c.5243C>G (p.Ala1748Gly) c.5291C>G (p.Ala1764Gly) c.4265C>G (p.Ala1422Gly) c.3846C>G c.3407C>G (p.Ala1136Gly) c.*1224C>G (n.*1224C>G) c.4560C>G c.5333C>G (p.Ala1778Gly) c.5330C>G (p.Ala1777Gly) c.5285C>G (p.Ala1762Gly) c.4409C>G (p.Ala1470Gly) c.4178C>G (p.Ala1393Gly) | |
10 | g.94298502C>T | CA377641918 | PLCE1 | c.4367C>T (p.Ala1456Val) c.*1834C>T (n.*1834C>T) n.2026C>T n.710C>T c.*575C>T (n.*575C>T) c.4319C>T (p.Ala1440Val) n.9499C>T n.2964C>T c.5159C>T (p.Ala1720Val) c.5243C>T (p.Ala1748Val) c.5291C>T (p.Ala1764Val) c.4265C>T (p.Ala1422Val) c.3846C>T c.3407C>T (p.Ala1136Val) c.*1224C>T (n.*1224C>T) c.4560C>T c.5333C>T (p.Ala1778Val) c.5330C>T (p.Ala1777Val) c.5285C>T (p.Ala1762Val) c.4409C>T (p.Ala1470Val) c.4178C>T (p.Ala1393Val) | |
10 | g.94298502_94298503dup | CA2610239641 | PLCE1 | c.4367_4368dup (p.Ala1457ProfsTer13) c.*1834_*1835dup (n.*1834_*1835dup) n.2026_2027dup n.710_711dup c.*575_*576dup (n.*575_*576dup) c.4319_4320dup (p.Ala1441ProfsTer13) n.9499_9500dup n.2964_2965dup c.5159_5160dup (p.Ala1721ProfsTer13) c.5243_5244dup (p.Ala1749ProfsTer13) c.5291_5292dup (p.Ala1765ProfsTer13) c.4265_4266dup (p.Ala1423ProfsTer13) c.3846_3847dup c.3407_3408dup (p.Ala1137ProfsTer13) c.*1224_*1225dup (n.*1224_*1225dup) c.4560_4561dup c.5333_5334dup (p.Ala1779ProfsTer13) c.5330_5331dup (p.Ala1778ProfsTer13) c.5285_5286dup (p.Ala1763ProfsTer13) c.4409_4410dup (p.Ala1471ProfsTer13) c.4178_4179dup (p.Ala1394ProfsTer13) | gnomAD v4 |
10 | g.94298503C>A | CA5613329 | PLCE1 | c.4368C>A (p.Ala1456=) c.*1835C>A (n.*1835C>A) n.2027C>A n.711C>A c.*576C>A (n.*576C>A) c.4320C>A (p.Ala1440=) n.9500C>A n.2965C>A c.5160C>A (p.Ala1720=) c.5244C>A (p.Ala1748=) c.5292C>A (p.Ala1764=) c.4266C>A (p.Ala1422=) c.3847C>A c.3408C>A (p.Ala1136=) c.*1225C>A (n.*1225C>A) c.4561C>A c.5334C>A (p.Ala1778=) c.5331C>A (p.Ala1777=) c.5286C>A (p.Ala1762=) c.4410C>A (p.Ala1470=) c.4179C>A (p.Ala1393=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298503C= | CA1928998418 | PLCE1 | c.4368C= (p.Ala1456=) c.*1835C= (n.*1835C=) n.2027C= n.711C= c.*576C= (n.*576C=) c.4320C= (p.Ala1440=) n.9500C= n.2965C= c.5160C= (p.Ala1720=) c.5244C= (p.Ala1748=) c.5292C= (p.Ala1764=) c.4266C= (p.Ala1422=) c.3847C= c.3408C= (p.Ala1136=) c.*1225C= (n.*1225C=) c.4561C= c.5334C= (p.Ala1778=) c.5331C= (p.Ala1777=) c.5286C= (p.Ala1762=) c.4410C= (p.Ala1470=) c.4179C= (p.Ala1393=) | |
10 | g.94298503C>G | CA470986509 | PLCE1 | c.4368C>G (p.Ala1456=) c.*1835C>G (n.*1835C>G) n.2027C>G n.711C>G c.*576C>G (n.*576C>G) c.4320C>G (p.Ala1440=) n.9500C>G n.2965C>G c.5160C>G (p.Ala1720=) c.5244C>G (p.Ala1748=) c.5292C>G (p.Ala1764=) c.4266C>G (p.Ala1422=) c.3847C>G c.3408C>G (p.Ala1136=) c.*1225C>G (n.*1225C>G) c.4561C>G c.5334C>G (p.Ala1778=) c.5331C>G (p.Ala1777=) c.5286C>G (p.Ala1762=) c.4410C>G (p.Ala1470=) c.4179C>G (p.Ala1393=) | gnomAD v4 |
10 | g.94298503C>T | CA470986510 | PLCE1 | c.4368C>T (p.Ala1456=) c.*1835C>T (n.*1835C>T) n.2027C>T n.711C>T c.*576C>T (n.*576C>T) c.4320C>T (p.Ala1440=) n.9500C>T n.2965C>T c.5160C>T (p.Ala1720=) c.5244C>T (p.Ala1748=) c.5292C>T (p.Ala1764=) c.4266C>T (p.Ala1422=) c.3847C>T c.3408C>T (p.Ala1136=) c.*1225C>T (n.*1225C>T) c.4561C>T c.5334C>T (p.Ala1778=) c.5331C>T (p.Ala1777=) c.5286C>T (p.Ala1762=) c.4410C>T (p.Ala1470=) c.4179C>T (p.Ala1393=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298504G>A | CA5613330 | PLCE1 | c.4369G>A (p.Ala1457Thr) c.*1836G>A (n.*1836G>A) n.2028G>A n.712G>A c.*577G>A (n.*577G>A) c.4321G>A (p.Ala1441Thr) n.9501G>A n.2966G>A c.5161G>A (p.Ala1721Thr) c.5245G>A (p.Ala1749Thr) c.5293G>A (p.Ala1765Thr) c.4267G>A (p.Ala1423Thr) c.3848G>A c.3409G>A (p.Ala1137Thr) c.*1226G>A (n.*1226G>A) c.4562G>A c.5335G>A (p.Ala1779Thr) c.5332G>A (p.Ala1778Thr) c.5287G>A (p.Ala1763Thr) c.4411G>A (p.Ala1471Thr) c.4180G>A (p.Ala1394Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298504G>C | CA377641919 | PLCE1 | c.4369G>C (p.Ala1457Pro) c.*1836G>C (n.*1836G>C) n.2028G>C n.712G>C c.*577G>C (n.*577G>C) c.4321G>C (p.Ala1441Pro) n.9501G>C n.2966G>C c.5161G>C (p.Ala1721Pro) c.5245G>C (p.Ala1749Pro) c.5293G>C (p.Ala1765Pro) c.4267G>C (p.Ala1423Pro) c.3848G>C c.3409G>C (p.Ala1137Pro) c.*1226G>C (n.*1226G>C) c.4562G>C c.5335G>C (p.Ala1779Pro) c.5332G>C (p.Ala1778Pro) c.5287G>C (p.Ala1763Pro) c.4411G>C (p.Ala1471Pro) c.4180G>C (p.Ala1394Pro) | |
10 | g.94298504G= | CA1928998419 | PLCE1 | c.4369G= (p.Ala1457=) c.*1836G= (n.*1836G=) n.2028G= n.712G= c.*577G= (n.*577G=) c.4321G= (p.Ala1441=) n.9501G= n.2966G= c.5161G= (p.Ala1721=) c.5245G= (p.Ala1749=) c.5293G= (p.Ala1765=) c.4267G= (p.Ala1423=) c.3848G= c.3409G= (p.Ala1137=) c.*1226G= (n.*1226G=) c.4562G= c.5335G= (p.Ala1779=) c.5332G= (p.Ala1778=) c.5287G= (p.Ala1763=) c.4411G= (p.Ala1471=) c.4180G= (p.Ala1394=) | |
10 | g.94298504G>T | CA377641920 | PLCE1 | c.4369G>T (p.Ala1457Ser) c.*1836G>T (n.*1836G>T) n.2028G>T n.712G>T c.*577G>T (n.*577G>T) c.4321G>T (p.Ala1441Ser) n.9501G>T n.2966G>T c.5161G>T (p.Ala1721Ser) c.5245G>T (p.Ala1749Ser) c.5293G>T (p.Ala1765Ser) c.4267G>T (p.Ala1423Ser) c.3848G>T c.3409G>T (p.Ala1137Ser) c.*1226G>T (n.*1226G>T) c.4562G>T c.5335G>T (p.Ala1779Ser) c.5332G>T (p.Ala1778Ser) c.5287G>T (p.Ala1763Ser) c.4411G>T (p.Ala1471Ser) c.4180G>T (p.Ala1394Ser) | |
10 | g.94298505C>A | CA377641921 | PLCE1 | c.4370C>A (p.Ala1457Asp) c.*1837C>A (n.*1837C>A) n.2029C>A n.713C>A c.*578C>A (n.*578C>A) c.4322C>A (p.Ala1441Asp) n.9502C>A n.2967C>A c.5162C>A (p.Ala1721Asp) c.5246C>A (p.Ala1749Asp) c.5294C>A (p.Ala1765Asp) c.4268C>A (p.Ala1423Asp) c.3849C>A c.3410C>A (p.Ala1137Asp) c.*1227C>A (n.*1227C>A) c.4563C>A c.5336C>A (p.Ala1779Asp) c.5333C>A (p.Ala1778Asp) c.5288C>A (p.Ala1763Asp) c.4412C>A (p.Ala1471Asp) c.4181C>A (p.Ala1394Asp) | |
10 | g.94298505C>G | CA377641922 | PLCE1 | c.4370C>G (p.Ala1457Gly) c.*1837C>G (n.*1837C>G) n.2029C>G n.713C>G c.*578C>G (n.*578C>G) c.4322C>G (p.Ala1441Gly) n.9502C>G n.2967C>G c.5162C>G (p.Ala1721Gly) c.5246C>G (p.Ala1749Gly) c.5294C>G (p.Ala1765Gly) c.4268C>G (p.Ala1423Gly) c.3849C>G c.3410C>G (p.Ala1137Gly) c.*1227C>G (n.*1227C>G) c.4563C>G c.5336C>G (p.Ala1779Gly) c.5333C>G (p.Ala1778Gly) c.5288C>G (p.Ala1763Gly) c.4412C>G (p.Ala1471Gly) c.4181C>G (p.Ala1394Gly) | |
10 | g.94298505C>T | CA377641923 | PLCE1 | c.4370C>T (p.Ala1457Val) c.*1837C>T (n.*1837C>T) n.2029C>T n.713C>T c.*578C>T (n.*578C>T) c.4322C>T (p.Ala1441Val) n.9502C>T n.2967C>T c.5162C>T (p.Ala1721Val) c.5246C>T (p.Ala1749Val) c.5294C>T (p.Ala1765Val) c.4268C>T (p.Ala1423Val) c.3849C>T c.3410C>T (p.Ala1137Val) c.*1227C>T (n.*1227C>T) c.4563C>T c.5336C>T (p.Ala1779Val) c.5333C>T (p.Ala1778Val) c.5288C>T (p.Ala1763Val) c.4412C>T (p.Ala1471Val) c.4181C>T (p.Ala1394Val) | |
10 | g.94298506C>A | CA470986513 | PLCE1 | c.4371C>A (p.Ala1457=) c.*1838C>A (n.*1838C>A) n.2030C>A n.714C>A c.*579C>A (n.*579C>A) c.4323C>A (p.Ala1441=) n.9503C>A n.2968C>A c.5163C>A (p.Ala1721=) c.5247C>A (p.Ala1749=) c.5295C>A (p.Ala1765=) c.4269C>A (p.Ala1423=) c.3850C>A c.3411C>A (p.Ala1137=) c.*1228C>A (n.*1228C>A) c.4564C>A c.5337C>A (p.Ala1779=) c.5334C>A (p.Ala1778=) c.5289C>A (p.Ala1763=) c.4413C>A (p.Ala1471=) c.4182C>A (p.Ala1394=) | |
10 | g.94298506C>G | CA470986514 | PLCE1 | c.4371C>G (p.Ala1457=) c.*1838C>G (n.*1838C>G) n.2030C>G n.714C>G c.*579C>G (n.*579C>G) c.4323C>G (p.Ala1441=) n.9503C>G n.2968C>G c.5163C>G (p.Ala1721=) c.5247C>G (p.Ala1749=) c.5295C>G (p.Ala1765=) c.4269C>G (p.Ala1423=) c.3850C>G c.3411C>G (p.Ala1137=) c.*1228C>G (n.*1228C>G) c.4564C>G c.5337C>G (p.Ala1779=) c.5334C>G (p.Ala1778=) c.5289C>G (p.Ala1763=) c.4413C>G (p.Ala1471=) c.4182C>G (p.Ala1394=) | |
10 | g.94298506C>T | CA470986515 | PLCE1 | c.4371C>T (p.Ala1457=) c.*1838C>T (n.*1838C>T) n.2030C>T n.714C>T c.*579C>T (n.*579C>T) c.4323C>T (p.Ala1441=) n.9503C>T n.2968C>T c.5163C>T (p.Ala1721=) c.5247C>T (p.Ala1749=) c.5295C>T (p.Ala1765=) c.4269C>T (p.Ala1423=) c.3850C>T c.3411C>T (p.Ala1137=) c.*1228C>T (n.*1228C>T) c.4564C>T c.5337C>T (p.Ala1779=) c.5334C>T (p.Ala1778=) c.5289C>T (p.Ala1763=) c.4413C>T (p.Ala1471=) c.4182C>T (p.Ala1394=) | gnomAD v4 |
10 | g.94298507A>C | CA377641924 | PLCE1 | c.4372A>C (p.Lys1458Gln) c.*1839A>C (n.*1839A>C) n.2031A>C n.715A>C c.*580A>C (n.*580A>C) c.4324A>C (p.Lys1442Gln) n.9504A>C n.2969A>C c.5164A>C (p.Lys1722Gln) c.5248A>C (p.Lys1750Gln) c.5296A>C (p.Lys1766Gln) c.4270A>C (p.Lys1424Gln) c.3851A>C c.3412A>C (p.Lys1138Gln) c.*1229A>C (n.*1229A>C) c.4565A>C c.5338A>C (p.Lys1780Gln) c.5335A>C (p.Lys1779Gln) c.5290A>C (p.Lys1764Gln) c.4414A>C (p.Lys1472Gln) c.4183A>C (p.Lys1395Gln) | |
10 | g.94298507A>G | CA377641925 | PLCE1 | c.4372A>G (p.Lys1458Glu) c.*1839A>G (n.*1839A>G) n.2031A>G n.715A>G c.*580A>G (n.*580A>G) c.4324A>G (p.Lys1442Glu) n.9504A>G n.2969A>G c.5164A>G (p.Lys1722Glu) c.5248A>G (p.Lys1750Glu) c.5296A>G (p.Lys1766Glu) c.4270A>G (p.Lys1424Glu) c.3851A>G c.3412A>G (p.Lys1138Glu) c.*1229A>G (n.*1229A>G) c.4565A>G c.5338A>G (p.Lys1780Glu) c.5335A>G (p.Lys1779Glu) c.5290A>G (p.Lys1764Glu) c.4414A>G (p.Lys1472Glu) c.4183A>G (p.Lys1395Glu) | |
10 | g.94298507A>T | CA377641926 | PLCE1 | c.4372A>T (p.Lys1458Ter) c.*1839A>T (n.*1839A>T) n.2031A>T n.715A>T c.*580A>T (n.*580A>T) c.4324A>T (p.Lys1442Ter) n.9504A>T n.2969A>T c.5164A>T (p.Lys1722Ter) c.5248A>T (p.Lys1750Ter) c.5296A>T (p.Lys1766Ter) c.4270A>T (p.Lys1424Ter) c.3851A>T c.3412A>T (p.Lys1138Ter) c.*1229A>T (n.*1229A>T) c.4565A>T c.5338A>T (p.Lys1780Ter) c.5335A>T (p.Lys1779Ter) c.5290A>T (p.Lys1764Ter) c.4414A>T (p.Lys1472Ter) c.4183A>T (p.Lys1395Ter) | |
10 | g.94298508A>C | CA377641927 | PLCE1 | c.4373A>C (p.Lys1458Thr) c.*1840A>C (n.*1840A>C) n.2032A>C n.716A>C c.*581A>C (n.*581A>C) c.4325A>C (p.Lys1442Thr) n.9505A>C n.2970A>C c.5165A>C (p.Lys1722Thr) c.5249A>C (p.Lys1750Thr) c.5297A>C (p.Lys1766Thr) c.4271A>C (p.Lys1424Thr) c.3852A>C c.3413A>C (p.Lys1138Thr) c.*1230A>C (n.*1230A>C) c.4566A>C c.5339A>C (p.Lys1780Thr) c.5336A>C (p.Lys1779Thr) c.5291A>C (p.Lys1764Thr) c.4415A>C (p.Lys1472Thr) c.4184A>C (p.Lys1395Thr) | |
10 | g.94298508A>G | CA377641929 | PLCE1 | c.4373A>G (p.Lys1458Arg) c.*1840A>G (n.*1840A>G) n.2032A>G n.716A>G c.*581A>G (n.*581A>G) c.4325A>G (p.Lys1442Arg) n.9505A>G n.2970A>G c.5165A>G (p.Lys1722Arg) c.5249A>G (p.Lys1750Arg) c.5297A>G (p.Lys1766Arg) c.4271A>G (p.Lys1424Arg) c.3852A>G c.3413A>G (p.Lys1138Arg) c.*1230A>G (n.*1230A>G) c.4566A>G c.5339A>G (p.Lys1780Arg) c.5336A>G (p.Lys1779Arg) c.5291A>G (p.Lys1764Arg) c.4415A>G (p.Lys1472Arg) c.4184A>G (p.Lys1395Arg) | |
10 | g.94298508A>T | CA377641928 | PLCE1 | c.4373A>T (p.Lys1458Ile) c.*1840A>T (n.*1840A>T) n.2032A>T n.716A>T c.*581A>T (n.*581A>T) c.4325A>T (p.Lys1442Ile) n.9505A>T n.2970A>T c.5165A>T (p.Lys1722Ile) c.5249A>T (p.Lys1750Ile) c.5297A>T (p.Lys1766Ile) c.4271A>T (p.Lys1424Ile) c.3852A>T c.3413A>T (p.Lys1138Ile) c.*1230A>T (n.*1230A>T) c.4566A>T c.5339A>T (p.Lys1780Ile) c.5336A>T (p.Lys1779Ile) c.5291A>T (p.Lys1764Ile) c.4415A>T (p.Lys1472Ile) c.4184A>T (p.Lys1395Ile) | |
10 | g.94298509A>C | CA377641930 | PLCE1 | c.4374A>C (p.Lys1458Asn) c.*1841A>C (n.*1841A>C) n.2033A>C n.717A>C c.*582A>C (n.*582A>C) c.4326A>C (p.Lys1442Asn) n.9506A>C n.2971A>C c.5166A>C (p.Lys1722Asn) c.5250A>C (p.Lys1750Asn) c.5298A>C (p.Lys1766Asn) c.4272A>C (p.Lys1424Asn) c.3853A>C c.3414A>C (p.Lys1138Asn) c.*1231A>C (n.*1231A>C) c.4567A>C c.5340A>C (p.Lys1780Asn) c.5337A>C (p.Lys1779Asn) c.5292A>C (p.Lys1764Asn) c.4416A>C (p.Lys1472Asn) c.4185A>C (p.Lys1395Asn) | |
10 | g.94298509A>G | CA470986519 | PLCE1 | c.4374A>G (p.Lys1458=) c.*1841A>G (n.*1841A>G) n.2033A>G n.717A>G c.*582A>G (n.*582A>G) c.4326A>G (p.Lys1442=) n.9506A>G n.2971A>G c.5166A>G (p.Lys1722=) c.5250A>G (p.Lys1750=) c.5298A>G (p.Lys1766=) c.4272A>G (p.Lys1424=) c.3853A>G c.3414A>G (p.Lys1138=) c.*1231A>G (n.*1231A>G) c.4567A>G c.5340A>G (p.Lys1780=) c.5337A>G (p.Lys1779=) c.5292A>G (p.Lys1764=) c.4416A>G (p.Lys1472=) c.4185A>G (p.Lys1395=) | |
10 | g.94298509A>T | CA377641931 | PLCE1 | c.4374A>T (p.Lys1458Asn) c.*1841A>T (n.*1841A>T) n.2033A>T n.717A>T c.*582A>T (n.*582A>T) c.4326A>T (p.Lys1442Asn) n.9506A>T n.2971A>T c.5166A>T (p.Lys1722Asn) c.5250A>T (p.Lys1750Asn) c.5298A>T (p.Lys1766Asn) c.4272A>T (p.Lys1424Asn) c.3853A>T c.3414A>T (p.Lys1138Asn) c.*1231A>T (n.*1231A>T) c.4567A>T c.5340A>T (p.Lys1780Asn) c.5337A>T (p.Lys1779Asn) c.5292A>T (p.Lys1764Asn) c.4416A>T (p.Lys1472Asn) c.4185A>T (p.Lys1395Asn) | |
10 | g.94298510C>A | CA377641932 | PLCE1 | c.4375C>A (p.Arg1459Ser) c.*1842C>A (n.*1842C>A) n.2034C>A n.718C>A c.*583C>A (n.*583C>A) c.4327C>A (p.Arg1443Ser) n.9507C>A n.2972C>A c.5167C>A (p.Arg1723Ser) c.5251C>A (p.Arg1751Ser) c.5299C>A (p.Arg1767Ser) c.4273C>A (p.Arg1425Ser) c.3854C>A c.3415C>A (p.Arg1139Ser) c.*1232C>A (n.*1232C>A) c.4568C>A c.5341C>A (p.Arg1781Ser) c.5338C>A (p.Arg1780Ser) c.5293C>A (p.Arg1765Ser) c.4417C>A (p.Arg1473Ser) c.4186C>A (p.Arg1396Ser) | |
10 | g.94298510C>G | CA377641933 | PLCE1 | c.4375C>G (p.Arg1459Gly) c.*1842C>G (n.*1842C>G) n.2034C>G n.718C>G c.*583C>G (n.*583C>G) c.4327C>G (p.Arg1443Gly) n.9507C>G n.2972C>G c.5167C>G (p.Arg1723Gly) c.5251C>G (p.Arg1751Gly) c.5299C>G (p.Arg1767Gly) c.4273C>G (p.Arg1425Gly) c.3854C>G c.3415C>G (p.Arg1139Gly) c.*1232C>G (n.*1232C>G) c.4568C>G c.5341C>G (p.Arg1781Gly) c.5338C>G (p.Arg1780Gly) c.5293C>G (p.Arg1765Gly) c.4417C>G (p.Arg1473Gly) c.4186C>G (p.Arg1396Gly) | |
10 | g.94298510C>T | CA377641934 | PLCE1 | c.4375C>T (p.Arg1459Cys) c.*1842C>T (n.*1842C>T) n.2034C>T n.718C>T c.*583C>T (n.*583C>T) c.4327C>T (p.Arg1443Cys) n.9507C>T n.2972C>T c.5167C>T (p.Arg1723Cys) c.5251C>T (p.Arg1751Cys) c.5299C>T (p.Arg1767Cys) c.4273C>T (p.Arg1425Cys) c.3854C>T c.3415C>T (p.Arg1139Cys) c.*1232C>T (n.*1232C>T) c.4568C>T c.5341C>T (p.Arg1781Cys) c.5338C>T (p.Arg1780Cys) c.5293C>T (p.Arg1765Cys) c.4417C>T (p.Arg1473Cys) c.4186C>T (p.Arg1396Cys) | dbSNP gnomAD v4 |
10 | g.94298511G>A | CA5613331 | PLCE1 | c.4376G>A (p.Arg1459His) c.*1843G>A (n.*1843G>A) n.2035G>A n.719G>A c.*584G>A (n.*584G>A) c.4328G>A (p.Arg1443His) n.9508G>A n.2973G>A c.5168G>A (p.Arg1723His) c.5252G>A (p.Arg1751His) c.5300G>A (p.Arg1767His) c.4274G>A (p.Arg1425His) c.3855G>A c.3416G>A (p.Arg1139His) c.*1233G>A (n.*1233G>A) c.4569G>A c.5342G>A (p.Arg1781His) c.5339G>A (p.Arg1780His) c.5294G>A (p.Arg1765His) c.4418G>A (p.Arg1473His) c.4187G>A (p.Arg1396His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298511G>C | CA377641935 | PLCE1 | c.4376G>C (p.Arg1459Pro) c.*1843G>C (n.*1843G>C) n.2035G>C n.719G>C c.*584G>C (n.*584G>C) c.4328G>C (p.Arg1443Pro) n.9508G>C n.2973G>C c.5168G>C (p.Arg1723Pro) c.5252G>C (p.Arg1751Pro) c.5300G>C (p.Arg1767Pro) c.4274G>C (p.Arg1425Pro) c.3855G>C c.3416G>C (p.Arg1139Pro) c.*1233G>C (n.*1233G>C) c.4569G>C c.5342G>C (p.Arg1781Pro) c.5339G>C (p.Arg1780Pro) c.5294G>C (p.Arg1765Pro) c.4418G>C (p.Arg1473Pro) c.4187G>C (p.Arg1396Pro) | |
10 | g.94298511G= | CA1928998420 | PLCE1 | c.4376G= (p.Arg1459=) c.*1843G= (n.*1843G=) n.2035G= n.719G= c.*584G= (n.*584G=) c.4328G= (p.Arg1443=) n.9508G= n.2973G= c.5168G= (p.Arg1723=) c.5252G= (p.Arg1751=) c.5300G= (p.Arg1767=) c.4274G= (p.Arg1425=) c.3855G= c.3416G= (p.Arg1139=) c.*1233G= (n.*1233G=) c.4569G= c.5342G= (p.Arg1781=) c.5339G= (p.Arg1780=) c.5294G= (p.Arg1765=) c.4418G= (p.Arg1473=) c.4187G= (p.Arg1396=) | |
10 | g.94298511G>T | CA377641936 | PLCE1 | c.4376G>T (p.Arg1459Leu) c.*1843G>T (n.*1843G>T) n.2035G>T n.719G>T c.*584G>T (n.*584G>T) c.4328G>T (p.Arg1443Leu) n.9508G>T n.2973G>T c.5168G>T (p.Arg1723Leu) c.5252G>T (p.Arg1751Leu) c.5300G>T (p.Arg1767Leu) c.4274G>T (p.Arg1425Leu) c.3855G>T c.3416G>T (p.Arg1139Leu) c.*1233G>T (n.*1233G>T) c.4569G>T c.5342G>T (p.Arg1781Leu) c.5339G>T (p.Arg1780Leu) c.5294G>T (p.Arg1765Leu) c.4418G>T (p.Arg1473Leu) c.4187G>T (p.Arg1396Leu) | gnomAD v4 |
10 | g.94298512T>A | CA5613332 | PLCE1 | c.4377T>A (p.Arg1459=) c.*1844T>A (n.*1844T>A) n.2036T>A n.720T>A c.*585T>A (n.*585T>A) c.4329T>A (p.Arg1443=) n.9509T>A n.2974T>A c.5169T>A (p.Arg1723=) c.5253T>A (p.Arg1751=) c.5301T>A (p.Arg1767=) c.4275T>A (p.Arg1425=) c.3856T>A c.3417T>A (p.Arg1139=) c.*1234T>A (n.*1234T>A) c.4570T>A c.5343T>A (p.Arg1781=) c.5340T>A (p.Arg1780=) c.5295T>A (p.Arg1765=) c.4419T>A (p.Arg1473=) c.4188T>A (p.Arg1396=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298512T>C | CA470986521 | PLCE1 | c.4377T>C (p.Arg1459=) c.*1844T>C (n.*1844T>C) n.2036T>C n.720T>C c.*585T>C (n.*585T>C) c.4329T>C (p.Arg1443=) n.9509T>C n.2974T>C c.5169T>C (p.Arg1723=) c.5253T>C (p.Arg1751=) c.5301T>C (p.Arg1767=) c.4275T>C (p.Arg1425=) c.3856T>C c.3417T>C (p.Arg1139=) c.*1234T>C (n.*1234T>C) c.4570T>C c.5343T>C (p.Arg1781=) c.5340T>C (p.Arg1780=) c.5295T>C (p.Arg1765=) c.4419T>C (p.Arg1473=) c.4188T>C (p.Arg1396=) | |
10 | g.94298512T>G | CA470986522 | PLCE1 | c.4377T>G (p.Arg1459=) c.*1844T>G (n.*1844T>G) n.2036T>G n.720T>G c.*585T>G (n.*585T>G) c.4329T>G (p.Arg1443=) n.9509T>G n.2974T>G c.5169T>G (p.Arg1723=) c.5253T>G (p.Arg1751=) c.5301T>G (p.Arg1767=) c.4275T>G (p.Arg1425=) c.3856T>G c.3417T>G (p.Arg1139=) c.*1234T>G (n.*1234T>G) c.4570T>G c.5343T>G (p.Arg1781=) c.5340T>G (p.Arg1780=) c.5295T>G (p.Arg1765=) c.4419T>G (p.Arg1473=) c.4188T>G (p.Arg1396=) | |
10 | g.94298512T= | CA1928998421 | PLCE1 | c.4377T= (p.Arg1459=) c.*1844T= (n.*1844T=) n.2036T= n.720T= c.*585T= (n.*585T=) c.4329T= (p.Arg1443=) n.9509T= n.2974T= c.5169T= (p.Arg1723=) c.5253T= (p.Arg1751=) c.5301T= (p.Arg1767=) c.4275T= (p.Arg1425=) c.3856T= c.3417T= (p.Arg1139=) c.*1234T= (n.*1234T=) c.4570T= c.5343T= (p.Arg1781=) c.5340T= (p.Arg1780=) c.5295T= (p.Arg1765=) c.4419T= (p.Arg1473=) c.4188T= (p.Arg1396=) | |
10 | g.94298513C>A | CA377641937 | PLCE1 | c.4378C>A (p.Leu1460Met) c.*1845C>A (n.*1845C>A) n.2037C>A n.721C>A c.*586C>A (n.*586C>A) c.4330C>A (p.Leu1444Met) n.9510C>A n.2975C>A c.5170C>A (p.Leu1724Met) c.5254C>A (p.Leu1752Met) c.5302C>A (p.Leu1768Met) c.4276C>A (p.Leu1426Met) c.3857C>A c.3418C>A (p.Leu1140Met) c.*1235C>A (n.*1235C>A) c.4571C>A c.5344C>A (p.Leu1782Met) c.5341C>A (p.Leu1781Met) c.5296C>A (p.Leu1766Met) c.4420C>A (p.Leu1474Met) c.4189C>A (p.Leu1397Met) | |
10 | g.94298513C>G | CA377641938 | PLCE1 | c.4378C>G (p.Leu1460Val) c.*1845C>G (n.*1845C>G) n.2037C>G n.721C>G c.*586C>G (n.*586C>G) c.4330C>G (p.Leu1444Val) n.9510C>G n.2975C>G c.5170C>G (p.Leu1724Val) c.5254C>G (p.Leu1752Val) c.5302C>G (p.Leu1768Val) c.4276C>G (p.Leu1426Val) c.3857C>G c.3418C>G (p.Leu1140Val) c.*1235C>G (n.*1235C>G) c.4571C>G c.5344C>G (p.Leu1782Val) c.5341C>G (p.Leu1781Val) c.5296C>G (p.Leu1766Val) c.4420C>G (p.Leu1474Val) c.4189C>G (p.Leu1397Val) | gnomAD v4 |
10 | g.94298513C>T | CA470986523 | PLCE1 | c.4378C>T (p.Leu1460=) c.*1845C>T (n.*1845C>T) n.2037C>T n.721C>T c.*586C>T (n.*586C>T) c.4330C>T (p.Leu1444=) n.9510C>T n.2975C>T c.5170C>T (p.Leu1724=) c.5254C>T (p.Leu1752=) c.5302C>T (p.Leu1768=) c.4276C>T (p.Leu1426=) c.3857C>T c.3418C>T (p.Leu1140=) c.*1235C>T (n.*1235C>T) c.4571C>T c.5344C>T (p.Leu1782=) c.5341C>T (p.Leu1781=) c.5296C>T (p.Leu1766=) c.4420C>T (p.Leu1474=) c.4189C>T (p.Leu1397=) | gnomAD v4 |
10 | g.94298514T>A | CA377641940 | PLCE1 | c.4379T>A (p.Leu1460Gln) c.*1846T>A (n.*1846T>A) n.2038T>A n.722T>A c.*587T>A (n.*587T>A) c.4331T>A (p.Leu1444Gln) n.9511T>A n.2976T>A c.5171T>A (p.Leu1724Gln) c.5255T>A (p.Leu1752Gln) c.5303T>A (p.Leu1768Gln) c.4277T>A (p.Leu1426Gln) c.3858T>A c.3419T>A (p.Leu1140Gln) c.*1236T>A (n.*1236T>A) c.4572T>A c.5345T>A (p.Leu1782Gln) c.5342T>A (p.Leu1781Gln) c.5297T>A (p.Leu1766Gln) c.4421T>A (p.Leu1474Gln) c.4190T>A (p.Leu1397Gln) | |
10 | g.94298514T>C | CA377641941 | PLCE1 | c.4379T>C (p.Leu1460Pro) c.*1846T>C (n.*1846T>C) n.2038T>C n.722T>C c.*587T>C (n.*587T>C) c.4331T>C (p.Leu1444Pro) n.9511T>C n.2976T>C c.5171T>C (p.Leu1724Pro) c.5255T>C (p.Leu1752Pro) c.5303T>C (p.Leu1768Pro) c.4277T>C (p.Leu1426Pro) c.3858T>C c.3419T>C (p.Leu1140Pro) c.*1236T>C (n.*1236T>C) c.4572T>C c.5345T>C (p.Leu1782Pro) c.5342T>C (p.Leu1781Pro) c.5297T>C (p.Leu1766Pro) c.4421T>C (p.Leu1474Pro) c.4190T>C (p.Leu1397Pro) | |
10 | g.94298514T>G | CA377641939 | PLCE1 | c.4379T>G (p.Leu1460Arg) c.*1846T>G (n.*1846T>G) n.2038T>G n.722T>G c.*587T>G (n.*587T>G) c.4331T>G (p.Leu1444Arg) n.9511T>G n.2976T>G c.5171T>G (p.Leu1724Arg) c.5255T>G (p.Leu1752Arg) c.5303T>G (p.Leu1768Arg) c.4277T>G (p.Leu1426Arg) c.3858T>G c.3419T>G (p.Leu1140Arg) c.*1236T>G (n.*1236T>G) c.4572T>G c.5345T>G (p.Leu1782Arg) c.5342T>G (p.Leu1781Arg) c.5297T>G (p.Leu1766Arg) c.4421T>G (p.Leu1474Arg) c.4190T>G (p.Leu1397Arg) | |
10 | g.94298515G>A | CA470986525 | PLCE1 | c.4380G>A (p.Leu1460=) c.*1847G>A (n.*1847G>A) n.2039G>A n.723G>A c.*588G>A (n.*588G>A) c.4332G>A (p.Leu1444=) n.9512G>A n.2977G>A c.5172G>A (p.Leu1724=) c.5256G>A (p.Leu1752=) c.5304G>A (p.Leu1768=) c.4278G>A (p.Leu1426=) c.3859G>A c.3420G>A (p.Leu1140=) c.*1237G>A (n.*1237G>A) c.4573G>A c.5346G>A (p.Leu1782=) c.5343G>A (p.Leu1781=) c.5298G>A (p.Leu1766=) c.4422G>A (p.Leu1474=) c.4191G>A (p.Leu1397=) | gnomAD v4 |
10 | g.94298515G>C | CA5613333 | PLCE1 | c.4380G>C (p.Leu1460=) c.*1847G>C (n.*1847G>C) n.2039G>C n.723G>C c.*588G>C (n.*588G>C) c.4332G>C (p.Leu1444=) n.9512G>C n.2977G>C c.5172G>C (p.Leu1724=) c.5256G>C (p.Leu1752=) c.5304G>C (p.Leu1768=) c.4278G>C (p.Leu1426=) c.3859G>C c.3420G>C (p.Leu1140=) c.*1237G>C (n.*1237G>C) c.4573G>C c.5346G>C (p.Leu1782=) c.5343G>C (p.Leu1781=) c.5298G>C (p.Leu1766=) c.4422G>C (p.Leu1474=) c.4191G>C (p.Leu1397=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298515G= | CA1928998422 | PLCE1 | c.4380G= (p.Leu1460=) c.*1847G= (n.*1847G=) n.2039G= n.723G= c.*588G= (n.*588G=) c.4332G= (p.Leu1444=) n.9512G= n.2977G= c.5172G= (p.Leu1724=) c.5256G= (p.Leu1752=) c.5304G= (p.Leu1768=) c.4278G= (p.Leu1426=) c.3859G= c.3420G= (p.Leu1140=) c.*1237G= (n.*1237G=) c.4573G= c.5346G= (p.Leu1782=) c.5343G= (p.Leu1781=) c.5298G= (p.Leu1766=) c.4422G= (p.Leu1474=) c.4191G= (p.Leu1397=) | |
10 | g.94298515G>T | CA470986526 | PLCE1 | c.4380G>T (p.Leu1460=) c.*1847G>T (n.*1847G>T) n.2039G>T n.723G>T c.*588G>T (n.*588G>T) c.4332G>T (p.Leu1444=) n.9512G>T n.2977G>T c.5172G>T (p.Leu1724=) c.5256G>T (p.Leu1752=) c.5304G>T (p.Leu1768=) c.4278G>T (p.Leu1426=) c.3859G>T c.3420G>T (p.Leu1140=) c.*1237G>T (n.*1237G>T) c.4573G>T c.5346G>T (p.Leu1782=) c.5343G>T (p.Leu1781=) c.5298G>T (p.Leu1766=) c.4422G>T (p.Leu1474=) c.4191G>T (p.Leu1397=) | |
10 | g.94298516T>A | CA377641942 | PLCE1 | c.4381T>A (p.Cys1461Ser) c.*1848T>A (n.*1848T>A) n.2040T>A n.724T>A c.*589T>A (n.*589T>A) c.4333T>A (p.Cys1445Ser) n.9513T>A n.2978T>A c.5173T>A (p.Cys1725Ser) c.5257T>A (p.Cys1753Ser) c.5305T>A (p.Cys1769Ser) c.4279T>A (p.Cys1427Ser) c.3860T>A c.3421T>A (p.Cys1141Ser) c.*1238T>A (n.*1238T>A) c.4574T>A c.5347T>A (p.Cys1783Ser) c.5344T>A (p.Cys1782Ser) c.5299T>A (p.Cys1767Ser) c.4423T>A (p.Cys1475Ser) c.4192T>A (p.Cys1398Ser) | |
10 | g.94298516T>C | CA377641943 | PLCE1 | c.4381T>C (p.Cys1461Arg) c.*1848T>C (n.*1848T>C) n.2040T>C n.724T>C c.*589T>C (n.*589T>C) c.4333T>C (p.Cys1445Arg) n.9513T>C n.2978T>C c.5173T>C (p.Cys1725Arg) c.5257T>C (p.Cys1753Arg) c.5305T>C (p.Cys1769Arg) c.4279T>C (p.Cys1427Arg) c.3860T>C c.3421T>C (p.Cys1141Arg) c.*1238T>C (n.*1238T>C) c.4574T>C c.5347T>C (p.Cys1783Arg) c.5344T>C (p.Cys1782Arg) c.5299T>C (p.Cys1767Arg) c.4423T>C (p.Cys1475Arg) c.4192T>C (p.Cys1398Arg) | |
10 | g.94298516T>G | CA377641944 | PLCE1 | c.4381T>G (p.Cys1461Gly) c.*1848T>G (n.*1848T>G) n.2040T>G n.724T>G c.*589T>G (n.*589T>G) c.4333T>G (p.Cys1445Gly) n.9513T>G n.2978T>G c.5173T>G (p.Cys1725Gly) c.5257T>G (p.Cys1753Gly) c.5305T>G (p.Cys1769Gly) c.4279T>G (p.Cys1427Gly) c.3860T>G c.3421T>G (p.Cys1141Gly) c.*1238T>G (n.*1238T>G) c.4574T>G c.5347T>G (p.Cys1783Gly) c.5344T>G (p.Cys1782Gly) c.5299T>G (p.Cys1767Gly) c.4423T>G (p.Cys1475Gly) c.4192T>G (p.Cys1398Gly) | |
10 | g.94298517G>A | CA377641945 | PLCE1 | c.4382G>A (p.Cys1461Tyr) c.*1849G>A (n.*1849G>A) n.2041G>A n.725G>A c.*590G>A (n.*590G>A) c.4334G>A (p.Cys1445Tyr) n.9514G>A n.2979G>A c.5174G>A (p.Cys1725Tyr) c.5258G>A (p.Cys1753Tyr) c.5306G>A (p.Cys1769Tyr) c.4280G>A (p.Cys1427Tyr) c.3861G>A c.3422G>A (p.Cys1141Tyr) c.*1239G>A (n.*1239G>A) c.4575G>A c.5348G>A (p.Cys1783Tyr) c.5345G>A (p.Cys1782Tyr) c.5300G>A (p.Cys1767Tyr) c.4424G>A (p.Cys1475Tyr) c.4193G>A (p.Cys1398Tyr) | gnomAD v4 |
10 | g.94298517G>C | CA377641946 | PLCE1 | c.4382G>C (p.Cys1461Ser) c.*1849G>C (n.*1849G>C) n.2041G>C n.725G>C c.*590G>C (n.*590G>C) c.4334G>C (p.Cys1445Ser) n.9514G>C n.2979G>C c.5174G>C (p.Cys1725Ser) c.5258G>C (p.Cys1753Ser) c.5306G>C (p.Cys1769Ser) c.4280G>C (p.Cys1427Ser) c.3861G>C c.3422G>C (p.Cys1141Ser) c.*1239G>C (n.*1239G>C) c.4575G>C c.5348G>C (p.Cys1783Ser) c.5345G>C (p.Cys1782Ser) c.5300G>C (p.Cys1767Ser) c.4424G>C (p.Cys1475Ser) c.4193G>C (p.Cys1398Ser) | |
10 | g.94298517G>T | CA377641947 | PLCE1 | c.4382G>T (p.Cys1461Phe) c.*1849G>T (n.*1849G>T) n.2041G>T n.725G>T c.*590G>T (n.*590G>T) c.4334G>T (p.Cys1445Phe) n.9514G>T n.2979G>T c.5174G>T (p.Cys1725Phe) c.5258G>T (p.Cys1753Phe) c.5306G>T (p.Cys1769Phe) c.4280G>T (p.Cys1427Phe) c.3861G>T c.3422G>T (p.Cys1141Phe) c.*1239G>T (n.*1239G>T) c.4575G>T c.5348G>T (p.Cys1783Phe) c.5345G>T (p.Cys1782Phe) c.5300G>T (p.Cys1767Phe) c.4424G>T (p.Cys1475Phe) c.4193G>T (p.Cys1398Phe) | |
10 | g.94298518T>A | CA377641948 | PLCE1 | c.4383T>A (p.Cys1461Ter) c.*1850T>A (n.*1850T>A) n.2042T>A n.726T>A c.*591T>A (n.*591T>A) c.4335T>A (p.Cys1445Ter) n.9515T>A n.2980T>A c.5175T>A (p.Cys1725Ter) c.5259T>A (p.Cys1753Ter) c.5307T>A (p.Cys1769Ter) c.4281T>A (p.Cys1427Ter) c.3862T>A c.3423T>A (p.Cys1141Ter) c.*1240T>A (n.*1240T>A) c.4576T>A c.5349T>A (p.Cys1783Ter) c.5346T>A (p.Cys1782Ter) c.5301T>A (p.Cys1767Ter) c.4425T>A (p.Cys1475Ter) c.4194T>A (p.Cys1398Ter) | |
10 | g.94298518T>C | CA470986528 | PLCE1 | c.4383T>C (p.Cys1461=) c.*1850T>C (n.*1850T>C) n.2042T>C n.726T>C c.*591T>C (n.*591T>C) c.4335T>C (p.Cys1445=) n.9515T>C n.2980T>C c.5175T>C (p.Cys1725=) c.5259T>C (p.Cys1753=) c.5307T>C (p.Cys1769=) c.4281T>C (p.Cys1427=) c.3862T>C c.3423T>C (p.Cys1141=) c.*1240T>C (n.*1240T>C) c.4576T>C c.5349T>C (p.Cys1783=) c.5346T>C (p.Cys1782=) c.5301T>C (p.Cys1767=) c.4425T>C (p.Cys1475=) c.4194T>C (p.Cys1398=) | COSMIC COSMIC COSMIC COSMIC |
10 | g.94298518T>G | CA377641949 | PLCE1 | c.4383T>G (p.Cys1461Trp) c.*1850T>G (n.*1850T>G) n.2042T>G n.726T>G c.*591T>G (n.*591T>G) c.4335T>G (p.Cys1445Trp) n.9515T>G n.2980T>G c.5175T>G (p.Cys1725Trp) c.5259T>G (p.Cys1753Trp) c.5307T>G (p.Cys1769Trp) c.4281T>G (p.Cys1427Trp) c.3862T>G c.3423T>G (p.Cys1141Trp) c.*1240T>G (n.*1240T>G) c.4576T>G c.5349T>G (p.Cys1783Trp) c.5346T>G (p.Cys1782Trp) c.5301T>G (p.Cys1767Trp) c.4425T>G (p.Cys1475Trp) c.4194T>G (p.Cys1398Trp) | |
10 | g.94298519C>A | CA377641950 | PLCE1 | c.4384C>A (p.Arg1462Ser) c.*1851C>A (n.*1851C>A) n.2043C>A n.727C>A c.*592C>A (n.*592C>A) c.4336C>A (p.Arg1446Ser) n.9516C>A n.2981C>A c.5176C>A (p.Arg1726Ser) c.5260C>A (p.Arg1754Ser) c.5308C>A (p.Arg1770Ser) c.4282C>A (p.Arg1428Ser) c.3863C>A c.3424C>A (p.Arg1142Ser) c.*1241C>A (n.*1241C>A) c.4577C>A c.5350C>A (p.Arg1784Ser) c.5347C>A (p.Arg1783Ser) c.5302C>A (p.Arg1768Ser) c.4426C>A (p.Arg1476Ser) c.4195C>A (p.Arg1399Ser) | |
10 | g.94298519C= | CA1928998423 | PLCE1 | c.4384C= (p.Arg1462=) c.*1851C= (n.*1851C=) n.2043C= n.727C= c.*592C= (n.*592C=) c.4336C= (p.Arg1446=) n.9516C= n.2981C= c.5176C= (p.Arg1726=) c.5260C= (p.Arg1754=) c.5308C= (p.Arg1770=) c.4282C= (p.Arg1428=) c.3863C= c.3424C= (p.Arg1142=) c.*1241C= (n.*1241C=) c.4577C= c.5350C= (p.Arg1784=) c.5347C= (p.Arg1783=) c.5302C= (p.Arg1768=) c.4426C= (p.Arg1476=) c.4195C= (p.Arg1399=) | |
10 | g.94298519C>G | CA377641951 | PLCE1 | c.4384C>G (p.Arg1462Gly) c.*1851C>G (n.*1851C>G) n.2043C>G n.727C>G c.*592C>G (n.*592C>G) c.4336C>G (p.Arg1446Gly) n.9516C>G n.2981C>G c.5176C>G (p.Arg1726Gly) c.5260C>G (p.Arg1754Gly) c.5308C>G (p.Arg1770Gly) c.4282C>G (p.Arg1428Gly) c.3863C>G c.3424C>G (p.Arg1142Gly) c.*1241C>G (n.*1241C>G) c.4577C>G c.5350C>G (p.Arg1784Gly) c.5347C>G (p.Arg1783Gly) c.5302C>G (p.Arg1768Gly) c.4426C>G (p.Arg1476Gly) c.4195C>G (p.Arg1399Gly) | |
10 | g.94298519C>T | CA5613334 | PLCE1 | c.4384C>T (p.Arg1462Cys) c.*1851C>T (n.*1851C>T) n.2043C>T n.727C>T c.*592C>T (n.*592C>T) c.4336C>T (p.Arg1446Cys) n.9516C>T n.2981C>T c.5176C>T (p.Arg1726Cys) c.5260C>T (p.Arg1754Cys) c.5308C>T (p.Arg1770Cys) c.4282C>T (p.Arg1428Cys) c.3863C>T c.3424C>T (p.Arg1142Cys) c.*1241C>T (n.*1241C>T) c.4577C>T c.5350C>T (p.Arg1784Cys) c.5347C>T (p.Arg1783Cys) c.5302C>T (p.Arg1768Cys) c.4426C>T (p.Arg1476Cys) c.4195C>T (p.Arg1399Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298520G>A | CA5613335 | PLCE1 | c.4385G>A (p.Arg1462His) c.*1852G>A (n.*1852G>A) n.2044G>A n.728G>A c.*593G>A (n.*593G>A) c.4337G>A (p.Arg1446His) n.9517G>A n.2982G>A c.5177G>A (p.Arg1726His) c.5261G>A (p.Arg1754His) c.5309G>A (p.Arg1770His) c.4283G>A (p.Arg1428His) c.3864G>A c.3425G>A (p.Arg1142His) c.*1242G>A (n.*1242G>A) c.4578G>A c.5351G>A (p.Arg1784His) c.5348G>A (p.Arg1783His) c.5303G>A (p.Arg1768His) c.4427G>A (p.Arg1476His) c.4196G>A (p.Arg1399His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298520G>C | CA377641952 | PLCE1 | c.4385G>C (p.Arg1462Pro) c.*1852G>C (n.*1852G>C) n.2044G>C n.728G>C c.*593G>C (n.*593G>C) c.4337G>C (p.Arg1446Pro) n.9517G>C n.2982G>C c.5177G>C (p.Arg1726Pro) c.5261G>C (p.Arg1754Pro) c.5309G>C (p.Arg1770Pro) c.4283G>C (p.Arg1428Pro) c.3864G>C c.3425G>C (p.Arg1142Pro) c.*1242G>C (n.*1242G>C) c.4578G>C c.5351G>C (p.Arg1784Pro) c.5348G>C (p.Arg1783Pro) c.5303G>C (p.Arg1768Pro) c.4427G>C (p.Arg1476Pro) c.4196G>C (p.Arg1399Pro) | |
10 | g.94298520G= | CA1928998424 | PLCE1 | c.4385G= (p.Arg1462=) c.*1852G= (n.*1852G=) n.2044G= n.728G= c.*593G= (n.*593G=) c.4337G= (p.Arg1446=) n.9517G= n.2982G= c.5177G= (p.Arg1726=) c.5261G= (p.Arg1754=) c.5309G= (p.Arg1770=) c.4283G= (p.Arg1428=) c.3864G= c.3425G= (p.Arg1142=) c.*1242G= (n.*1242G=) c.4578G= c.5351G= (p.Arg1784=) c.5348G= (p.Arg1783=) c.5303G= (p.Arg1768=) c.4427G= (p.Arg1476=) c.4196G= (p.Arg1399=) | |
10 | g.94298520G>T | CA377641953 | PLCE1 | c.4385G>T (p.Arg1462Leu) c.*1852G>T (n.*1852G>T) n.2044G>T n.728G>T c.*593G>T (n.*593G>T) c.4337G>T (p.Arg1446Leu) n.9517G>T n.2982G>T c.5177G>T (p.Arg1726Leu) c.5261G>T (p.Arg1754Leu) c.5309G>T (p.Arg1770Leu) c.4283G>T (p.Arg1428Leu) c.3864G>T c.3425G>T (p.Arg1142Leu) c.*1242G>T (n.*1242G>T) c.4578G>T c.5351G>T (p.Arg1784Leu) c.5348G>T (p.Arg1783Leu) c.5303G>T (p.Arg1768Leu) c.4427G>T (p.Arg1476Leu) c.4196G>T (p.Arg1399Leu) | |
10 | g.94298521C>A | CA470986530 | PLCE1 | c.4386C>A (p.Arg1462=) c.*1853C>A (n.*1853C>A) n.2045C>A n.729C>A c.*594C>A (n.*594C>A) c.4338C>A (p.Arg1446=) n.9518C>A n.2983C>A c.5178C>A (p.Arg1726=) c.5262C>A (p.Arg1754=) c.5310C>A (p.Arg1770=) c.4284C>A (p.Arg1428=) c.3865C>A c.3426C>A (p.Arg1142=) c.*1243C>A (n.*1243C>A) c.4579C>A c.5352C>A (p.Arg1784=) c.5349C>A (p.Arg1783=) c.5304C>A (p.Arg1768=) c.4428C>A (p.Arg1476=) c.4197C>A (p.Arg1399=) | |
10 | g.94298521C>G | CA470986532 | PLCE1 | c.4386C>G (p.Arg1462=) c.*1853C>G (n.*1853C>G) n.2045C>G n.729C>G c.*594C>G (n.*594C>G) c.4338C>G (p.Arg1446=) n.9518C>G n.2983C>G c.5178C>G (p.Arg1726=) c.5262C>G (p.Arg1754=) c.5310C>G (p.Arg1770=) c.4284C>G (p.Arg1428=) c.3865C>G c.3426C>G (p.Arg1142=) c.*1243C>G (n.*1243C>G) c.4579C>G c.5352C>G (p.Arg1784=) c.5349C>G (p.Arg1783=) c.5304C>G (p.Arg1768=) c.4428C>G (p.Arg1476=) c.4197C>G (p.Arg1399=) | |
10 | g.94298521C>T | CA470986531 | PLCE1 | c.4386C>T (p.Arg1462=) c.*1853C>T (n.*1853C>T) n.2045C>T n.729C>T c.*594C>T (n.*594C>T) c.4338C>T (p.Arg1446=) n.9518C>T n.2983C>T c.5178C>T (p.Arg1726=) c.5262C>T (p.Arg1754=) c.5310C>T (p.Arg1770=) c.4284C>T (p.Arg1428=) c.3865C>T c.3426C>T (p.Arg1142=) c.*1243C>T (n.*1243C>T) c.4579C>T c.5352C>T (p.Arg1784=) c.5349C>T (p.Arg1783=) c.5304C>T (p.Arg1768=) c.4428C>T (p.Arg1476=) c.4197C>T (p.Arg1399=) | |
10 | g.94298522A>C | CA470986533 | PLCE1 | c.4387A>C (p.Arg1463=) c.*1854A>C (n.*1854A>C) n.2046A>C n.730A>C c.*595A>C (n.*595A>C) c.4339A>C (p.Arg1447=) n.9519A>C n.2984A>C c.5179A>C (p.Arg1727=) c.5263A>C (p.Arg1755=) c.5311A>C (p.Arg1771=) c.4285A>C (p.Arg1429=) c.3866A>C c.3427A>C (p.Arg1143=) c.*1244A>C (n.*1244A>C) c.4580A>C c.5353A>C (p.Arg1785=) c.5350A>C (p.Arg1784=) c.5305A>C (p.Arg1769=) c.4429A>C (p.Arg1477=) c.4198A>C (p.Arg1400=) | |
10 | g.94298522A>G | CA377641955 | PLCE1 | c.4387A>G (p.Arg1463Gly) c.*1854A>G (n.*1854A>G) n.2046A>G n.730A>G c.*595A>G (n.*595A>G) c.4339A>G (p.Arg1447Gly) n.9519A>G n.2984A>G c.5179A>G (p.Arg1727Gly) c.5263A>G (p.Arg1755Gly) c.5311A>G (p.Arg1771Gly) c.4285A>G (p.Arg1429Gly) c.3866A>G c.3427A>G (p.Arg1143Gly) c.*1244A>G (n.*1244A>G) c.4580A>G c.5353A>G (p.Arg1785Gly) c.5350A>G (p.Arg1784Gly) c.5305A>G (p.Arg1769Gly) c.4429A>G (p.Arg1477Gly) c.4198A>G (p.Arg1400Gly) | |
10 | g.94298522A>T | CA377641954 | PLCE1 | c.4387A>T (p.Arg1463Trp) c.*1854A>T (n.*1854A>T) n.2046A>T n.730A>T c.*595A>T (n.*595A>T) c.4339A>T (p.Arg1447Trp) n.9519A>T n.2984A>T c.5179A>T (p.Arg1727Trp) c.5263A>T (p.Arg1755Trp) c.5311A>T (p.Arg1771Trp) c.4285A>T (p.Arg1429Trp) c.3866A>T c.3427A>T (p.Arg1143Trp) c.*1244A>T (n.*1244A>T) c.4580A>T c.5353A>T (p.Arg1785Trp) c.5350A>T (p.Arg1784Trp) c.5305A>T (p.Arg1769Trp) c.4429A>T (p.Arg1477Trp) c.4198A>T (p.Arg1400Trp) | |
10 | g.94298523G>A | CA377641956 | PLCE1 | c.4388G>A (p.Arg1463Lys) c.*1855G>A (n.*1855G>A) n.2047G>A n.731G>A c.*596G>A (n.*596G>A) c.4340G>A (p.Arg1447Lys) n.9520G>A n.2985G>A c.5180G>A (p.Arg1727Lys) c.5264G>A (p.Arg1755Lys) c.5312G>A (p.Arg1771Lys) c.4286G>A (p.Arg1429Lys) c.3867G>A c.3428G>A (p.Arg1143Lys) c.*1245G>A (n.*1245G>A) c.4581G>A c.5354G>A (p.Arg1785Lys) c.5351G>A (p.Arg1784Lys) c.5306G>A (p.Arg1769Lys) c.4430G>A (p.Arg1477Lys) c.4199G>A (p.Arg1400Lys) | gnomAD v4 |
10 | g.94298523G>C | CA377641957 | PLCE1 | c.4388G>C (p.Arg1463Thr) c.*1855G>C (n.*1855G>C) n.2047G>C n.731G>C c.*596G>C (n.*596G>C) c.4340G>C (p.Arg1447Thr) n.9520G>C n.2985G>C c.5180G>C (p.Arg1727Thr) c.5264G>C (p.Arg1755Thr) c.5312G>C (p.Arg1771Thr) c.4286G>C (p.Arg1429Thr) c.3867G>C c.3428G>C (p.Arg1143Thr) c.*1245G>C (n.*1245G>C) c.4581G>C c.5354G>C (p.Arg1785Thr) c.5351G>C (p.Arg1784Thr) c.5306G>C (p.Arg1769Thr) c.4430G>C (p.Arg1477Thr) c.4199G>C (p.Arg1400Thr) | dbSNP |
10 | g.94298523G= | CA1928998425 | PLCE1 | c.4388G= (p.Arg1463=) c.*1855G= (n.*1855G=) n.2047G= n.731G= c.*596G= (n.*596G=) c.4340G= (p.Arg1447=) n.9520G= n.2985G= c.5180G= (p.Arg1727=) c.5264G= (p.Arg1755=) c.5312G= (p.Arg1771=) c.4286G= (p.Arg1429=) c.3867G= c.3428G= (p.Arg1143=) c.*1245G= (n.*1245G=) c.4581G= c.5354G= (p.Arg1785=) c.5351G= (p.Arg1784=) c.5306G= (p.Arg1769=) c.4430G= (p.Arg1477=) c.4199G= (p.Arg1400=) | |
10 | g.94298523G>T | CA377641958 | PLCE1 | c.4388G>T (p.Arg1463Met) c.*1855G>T (n.*1855G>T) n.2047G>T n.731G>T c.*596G>T (n.*596G>T) c.4340G>T (p.Arg1447Met) n.9520G>T n.2985G>T c.5180G>T (p.Arg1727Met) c.5264G>T (p.Arg1755Met) c.5312G>T (p.Arg1771Met) c.4286G>T (p.Arg1429Met) c.3867G>T c.3428G>T (p.Arg1143Met) c.*1245G>T (n.*1245G>T) c.4581G>T c.5354G>T (p.Arg1785Met) c.5351G>T (p.Arg1784Met) c.5306G>T (p.Arg1769Met) c.4430G>T (p.Arg1477Met) c.4199G>T (p.Arg1400Met) | |
10 | g.94298524G>A | CA470986535 | PLCE1 | c.4389G>A (p.Arg1463=) c.*1856G>A (n.*1856G>A) n.2048G>A n.732G>A c.*597G>A (n.*597G>A) c.4341G>A (p.Arg1447=) n.9521G>A n.2986G>A c.5181G>A (p.Arg1727=) c.5265G>A (p.Arg1755=) c.5313G>A (p.Arg1771=) c.4287G>A (p.Arg1429=) c.3868G>A c.3429G>A (p.Arg1143=) c.*1246G>A (n.*1246G>A) c.4582G>A c.5355G>A (p.Arg1785=) c.5352G>A (p.Arg1784=) c.5307G>A (p.Arg1769=) c.4431G>A (p.Arg1477=) c.4200G>A (p.Arg1400=) | |
10 | g.94298524G>C | CA377641959 | PLCE1 | c.4389G>C (p.Arg1463Ser) c.*1856G>C (n.*1856G>C) n.2048G>C n.732G>C c.*597G>C (n.*597G>C) c.4341G>C (p.Arg1447Ser) n.9521G>C n.2986G>C c.5181G>C (p.Arg1727Ser) c.5265G>C (p.Arg1755Ser) c.5313G>C (p.Arg1771Ser) c.4287G>C (p.Arg1429Ser) c.3868G>C c.3429G>C (p.Arg1143Ser) c.*1246G>C (n.*1246G>C) c.4582G>C c.5355G>C (p.Arg1785Ser) c.5352G>C (p.Arg1784Ser) c.5307G>C (p.Arg1769Ser) c.4431G>C (p.Arg1477Ser) c.4200G>C (p.Arg1400Ser) | |
10 | g.94298524G= | CA1928998426 | PLCE1 | c.4389G= (p.Arg1463=) c.*1856G= (n.*1856G=) n.2048G= n.732G= c.*597G= (n.*597G=) c.4341G= (p.Arg1447=) n.9521G= n.2986G= c.5181G= (p.Arg1727=) c.5265G= (p.Arg1755=) c.5313G= (p.Arg1771=) c.4287G= (p.Arg1429=) c.3868G= c.3429G= (p.Arg1143=) c.*1246G= (n.*1246G=) c.4582G= c.5355G= (p.Arg1785=) c.5352G= (p.Arg1784=) c.5307G= (p.Arg1769=) c.4431G= (p.Arg1477=) c.4200G= (p.Arg1400=) | |
10 | g.94298524G>T | CA5613336 | PLCE1 | c.4389G>T (p.Arg1463Ser) c.*1856G>T (n.*1856G>T) n.2048G>T n.732G>T c.*597G>T (n.*597G>T) c.4341G>T (p.Arg1447Ser) n.9521G>T n.2986G>T c.5181G>T (p.Arg1727Ser) c.5265G>T (p.Arg1755Ser) c.5313G>T (p.Arg1771Ser) c.4287G>T (p.Arg1429Ser) c.3868G>T c.3429G>T (p.Arg1143Ser) c.*1246G>T (n.*1246G>T) c.4582G>T c.5355G>T (p.Arg1785Ser) c.5352G>T (p.Arg1784Ser) c.5307G>T (p.Arg1769Ser) c.4431G>T (p.Arg1477Ser) c.4200G>T (p.Arg1400Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298525T>A | CA377641960 | PLCE1 | c.4390T>A (p.Tyr1464Asn) c.*1857T>A (n.*1857T>A) n.2049T>A n.733T>A c.*598T>A (n.*598T>A) c.4342T>A (p.Tyr1448Asn) n.9522T>A n.2987T>A c.5182T>A (p.Tyr1728Asn) c.5266T>A (p.Tyr1756Asn) c.5314T>A (p.Tyr1772Asn) c.4288T>A (p.Tyr1430Asn) c.3869T>A c.3430T>A (p.Tyr1144Asn) c.*1247T>A (n.*1247T>A) c.4583T>A c.5356T>A (p.Tyr1786Asn) c.5353T>A (p.Tyr1785Asn) c.5308T>A (p.Tyr1770Asn) c.4432T>A (p.Tyr1478Asn) c.4201T>A (p.Tyr1401Asn) | |
10 | g.94298525T>C | CA377641961 | PLCE1 | c.4390T>C (p.Tyr1464His) c.*1857T>C (n.*1857T>C) n.2049T>C n.733T>C c.*598T>C (n.*598T>C) c.4342T>C (p.Tyr1448His) n.9522T>C n.2987T>C c.5182T>C (p.Tyr1728His) c.5266T>C (p.Tyr1756His) c.5314T>C (p.Tyr1772His) c.4288T>C (p.Tyr1430His) c.3869T>C c.3430T>C (p.Tyr1144His) c.*1247T>C (n.*1247T>C) c.4583T>C c.5356T>C (p.Tyr1786His) c.5353T>C (p.Tyr1785His) c.5308T>C (p.Tyr1770His) c.4432T>C (p.Tyr1478His) c.4201T>C (p.Tyr1401His) | gnomAD v4 |
10 | g.94298525T>G | CA377641962 | PLCE1 | c.4390T>G (p.Tyr1464Asp) c.*1857T>G (n.*1857T>G) n.2049T>G n.733T>G c.*598T>G (n.*598T>G) c.4342T>G (p.Tyr1448Asp) n.9522T>G n.2987T>G c.5182T>G (p.Tyr1728Asp) c.5266T>G (p.Tyr1756Asp) c.5314T>G (p.Tyr1772Asp) c.4288T>G (p.Tyr1430Asp) c.3869T>G c.3430T>G (p.Tyr1144Asp) c.*1247T>G (n.*1247T>G) c.4583T>G c.5356T>G (p.Tyr1786Asp) c.5353T>G (p.Tyr1785Asp) c.5308T>G (p.Tyr1770Asp) c.4432T>G (p.Tyr1478Asp) c.4201T>G (p.Tyr1401Asp) | |
10 | g.94298526A>C | CA377641963 | PLCE1 | c.4391A>C (p.Tyr1464Ser) c.*1858A>C (n.*1858A>C) n.2050A>C n.734A>C c.*599A>C (n.*599A>C) c.4343A>C (p.Tyr1448Ser) n.9523A>C n.2988A>C c.5183A>C (p.Tyr1728Ser) c.5267A>C (p.Tyr1756Ser) c.5315A>C (p.Tyr1772Ser) c.4289A>C (p.Tyr1430Ser) c.3870A>C c.3431A>C (p.Tyr1144Ser) c.*1248A>C (n.*1248A>C) c.4584A>C c.5357A>C (p.Tyr1786Ser) c.5354A>C (p.Tyr1785Ser) c.5309A>C (p.Tyr1770Ser) c.4433A>C (p.Tyr1478Ser) c.4202A>C (p.Tyr1401Ser) | |
10 | g.94298526A>G | CA377641964 | PLCE1 | c.4391A>G (p.Tyr1464Cys) c.*1858A>G (n.*1858A>G) n.2050A>G n.734A>G c.*599A>G (n.*599A>G) c.4343A>G (p.Tyr1448Cys) n.9523A>G n.2988A>G c.5183A>G (p.Tyr1728Cys) c.5267A>G (p.Tyr1756Cys) c.5315A>G (p.Tyr1772Cys) c.4289A>G (p.Tyr1430Cys) c.3870A>G c.3431A>G (p.Tyr1144Cys) c.*1248A>G (n.*1248A>G) c.4584A>G c.5357A>G (p.Tyr1786Cys) c.5354A>G (p.Tyr1785Cys) c.5309A>G (p.Tyr1770Cys) c.4433A>G (p.Tyr1478Cys) c.4202A>G (p.Tyr1401Cys) | |
10 | g.94298526A>T | CA377641965 | PLCE1 | c.4391A>T (p.Tyr1464Phe) c.*1858A>T (n.*1858A>T) n.2050A>T n.734A>T c.*599A>T (n.*599A>T) c.4343A>T (p.Tyr1448Phe) n.9523A>T n.2988A>T c.5183A>T (p.Tyr1728Phe) c.5267A>T (p.Tyr1756Phe) c.5315A>T (p.Tyr1772Phe) c.4289A>T (p.Tyr1430Phe) c.3870A>T c.3431A>T (p.Tyr1144Phe) c.*1248A>T (n.*1248A>T) c.4584A>T c.5357A>T (p.Tyr1786Phe) c.5354A>T (p.Tyr1785Phe) c.5309A>T (p.Tyr1770Phe) c.4433A>T (p.Tyr1478Phe) c.4202A>T (p.Tyr1401Phe) | |
10 | g.94298527T>A | CA377641966 | PLCE1 | c.4392T>A (p.Tyr1464Ter) c.*1859T>A (n.*1859T>A) n.2051T>A n.735T>A c.*600T>A (n.*600T>A) c.4344T>A (p.Tyr1448Ter) n.9524T>A n.2989T>A c.5184T>A (p.Tyr1728Ter) c.5268T>A (p.Tyr1756Ter) c.5316T>A (p.Tyr1772Ter) c.4290T>A (p.Tyr1430Ter) c.3871T>A c.3432T>A (p.Tyr1144Ter) c.*1249T>A (n.*1249T>A) c.4585T>A c.5358T>A (p.Tyr1786Ter) c.5355T>A (p.Tyr1785Ter) c.5310T>A (p.Tyr1770Ter) c.4434T>A (p.Tyr1478Ter) c.4203T>A (p.Tyr1401Ter) | |
10 | g.94298527T>C | CA470986536 | PLCE1 | c.4392T>C (p.Tyr1464=) c.*1859T>C (n.*1859T>C) n.2051T>C n.735T>C c.*600T>C (n.*600T>C) c.4344T>C (p.Tyr1448=) n.9524T>C n.2989T>C c.5184T>C (p.Tyr1728=) c.5268T>C (p.Tyr1756=) c.5316T>C (p.Tyr1772=) c.4290T>C (p.Tyr1430=) c.3871T>C c.3432T>C (p.Tyr1144=) c.*1249T>C (n.*1249T>C) c.4585T>C c.5358T>C (p.Tyr1786=) c.5355T>C (p.Tyr1785=) c.5310T>C (p.Tyr1770=) c.4434T>C (p.Tyr1478=) c.4203T>C (p.Tyr1401=) | |
10 | g.94298527T>G | CA377641967 | PLCE1 | c.4392T>G (p.Tyr1464Ter) c.*1859T>G (n.*1859T>G) n.2051T>G n.735T>G c.*600T>G (n.*600T>G) c.4344T>G (p.Tyr1448Ter) n.9524T>G n.2989T>G c.5184T>G (p.Tyr1728Ter) c.5268T>G (p.Tyr1756Ter) c.5316T>G (p.Tyr1772Ter) c.4290T>G (p.Tyr1430Ter) c.3871T>G c.3432T>G (p.Tyr1144Ter) c.*1249T>G (n.*1249T>G) c.4585T>G c.5358T>G (p.Tyr1786Ter) c.5355T>G (p.Tyr1785Ter) c.5310T>G (p.Tyr1770Ter) c.4434T>G (p.Tyr1478Ter) c.4203T>G (p.Tyr1401Ter) | |
10 | g.94298528T>A | CA377641968 | PLCE1 | c.4393T>A (p.Ser1465Thr) c.*1860T>A (n.*1860T>A) n.2052T>A n.736T>A c.*601T>A (n.*601T>A) c.4345T>A (p.Ser1449Thr) n.9525T>A n.2990T>A c.5185T>A (p.Ser1729Thr) c.5269T>A (p.Ser1757Thr) c.5317T>A (p.Ser1773Thr) c.4291T>A (p.Ser1431Thr) c.3872T>A c.3433T>A (p.Ser1145Thr) c.*1250T>A (n.*1250T>A) c.4586T>A c.5359T>A (p.Ser1787Thr) c.5356T>A (p.Ser1786Thr) c.5311T>A (p.Ser1771Thr) c.4435T>A (p.Ser1479Thr) c.4204T>A (p.Ser1402Thr) | |
10 | g.94298528T>C | CA377641970 | PLCE1 | c.4393T>C (p.Ser1465Pro) c.*1860T>C (n.*1860T>C) n.2052T>C n.736T>C c.*601T>C (n.*601T>C) c.4345T>C (p.Ser1449Pro) n.9525T>C n.2990T>C c.5185T>C (p.Ser1729Pro) c.5269T>C (p.Ser1757Pro) c.5317T>C (p.Ser1773Pro) c.4291T>C (p.Ser1431Pro) c.3872T>C c.3433T>C (p.Ser1145Pro) c.*1250T>C (n.*1250T>C) c.4586T>C c.5359T>C (p.Ser1787Pro) c.5356T>C (p.Ser1786Pro) c.5311T>C (p.Ser1771Pro) c.4435T>C (p.Ser1479Pro) c.4204T>C (p.Ser1402Pro) | |
10 | g.94298528T>G | CA377641969 | PLCE1 | c.4393T>G (p.Ser1465Ala) c.*1860T>G (n.*1860T>G) n.2052T>G n.736T>G c.*601T>G (n.*601T>G) c.4345T>G (p.Ser1449Ala) n.9525T>G n.2990T>G c.5185T>G (p.Ser1729Ala) c.5269T>G (p.Ser1757Ala) c.5317T>G (p.Ser1773Ala) c.4291T>G (p.Ser1431Ala) c.3872T>G c.3433T>G (p.Ser1145Ala) c.*1250T>G (n.*1250T>G) c.4586T>G c.5359T>G (p.Ser1787Ala) c.5356T>G (p.Ser1786Ala) c.5311T>G (p.Ser1771Ala) c.4435T>G (p.Ser1479Ala) c.4204T>G (p.Ser1402Ala) | |
10 | g.94298529C>A | CA377641971 | PLCE1 | c.4394C>A (p.Ser1465Tyr) c.*1861C>A (n.*1861C>A) n.2053C>A n.737C>A c.*602C>A (n.*602C>A) c.4346C>A (p.Ser1449Tyr) n.9526C>A n.2991C>A c.5186C>A (p.Ser1729Tyr) c.5270C>A (p.Ser1757Tyr) c.5318C>A (p.Ser1773Tyr) c.4292C>A (p.Ser1431Tyr) c.3873C>A c.3434C>A (p.Ser1145Tyr) c.*1251C>A (n.*1251C>A) c.4587C>A c.5360C>A (p.Ser1787Tyr) c.5357C>A (p.Ser1786Tyr) c.5312C>A (p.Ser1771Tyr) c.4436C>A (p.Ser1479Tyr) c.4205C>A (p.Ser1402Tyr) | |
10 | g.94298529C>G | CA377641972 | PLCE1 | c.4394C>G (p.Ser1465Cys) c.*1861C>G (n.*1861C>G) n.2053C>G n.737C>G c.*602C>G (n.*602C>G) c.4346C>G (p.Ser1449Cys) n.9526C>G n.2991C>G c.5186C>G (p.Ser1729Cys) c.5270C>G (p.Ser1757Cys) c.5318C>G (p.Ser1773Cys) c.4292C>G (p.Ser1431Cys) c.3873C>G c.3434C>G (p.Ser1145Cys) c.*1251C>G (n.*1251C>G) c.4587C>G c.5360C>G (p.Ser1787Cys) c.5357C>G (p.Ser1786Cys) c.5312C>G (p.Ser1771Cys) c.4436C>G (p.Ser1479Cys) c.4205C>G (p.Ser1402Cys) | |
10 | g.94298529C>T | CA377641973 | PLCE1 | c.4394C>T (p.Ser1465Phe) c.*1861C>T (n.*1861C>T) n.2053C>T n.737C>T c.*602C>T (n.*602C>T) c.4346C>T (p.Ser1449Phe) n.9526C>T n.2991C>T c.5186C>T (p.Ser1729Phe) c.5270C>T (p.Ser1757Phe) c.5318C>T (p.Ser1773Phe) c.4292C>T (p.Ser1431Phe) c.3873C>T c.3434C>T (p.Ser1145Phe) c.*1251C>T (n.*1251C>T) c.4587C>T c.5360C>T (p.Ser1787Phe) c.5357C>T (p.Ser1786Phe) c.5312C>T (p.Ser1771Phe) c.4436C>T (p.Ser1479Phe) c.4205C>T (p.Ser1402Phe) | gnomAD v4 |
10 | g.94298530T>A | CA470986540 | PLCE1 | c.4395T>A (p.Ser1465=) c.*1862T>A (n.*1862T>A) n.2054T>A n.738T>A c.*603T>A (n.*603T>A) c.4347T>A (p.Ser1449=) n.9527T>A n.2992T>A c.5187T>A (p.Ser1729=) c.5271T>A (p.Ser1757=) c.5319T>A (p.Ser1773=) c.4293T>A (p.Ser1431=) c.3874T>A c.3435T>A (p.Ser1145=) c.*1252T>A (n.*1252T>A) c.4588T>A c.5361T>A (p.Ser1787=) c.5358T>A (p.Ser1786=) c.5313T>A (p.Ser1771=) c.4437T>A (p.Ser1479=) c.4206T>A (p.Ser1402=) | |
10 | g.94298530T>C | CA470986541 | PLCE1 | c.4395T>C (p.Ser1465=) c.*1862T>C (n.*1862T>C) n.2054T>C n.738T>C c.*603T>C (n.*603T>C) c.4347T>C (p.Ser1449=) n.9527T>C n.2992T>C c.5187T>C (p.Ser1729=) c.5271T>C (p.Ser1757=) c.5319T>C (p.Ser1773=) c.4293T>C (p.Ser1431=) c.3874T>C c.3435T>C (p.Ser1145=) c.*1252T>C (n.*1252T>C) c.4588T>C c.5361T>C (p.Ser1787=) c.5358T>C (p.Ser1786=) c.5313T>C (p.Ser1771=) c.4437T>C (p.Ser1479=) c.4206T>C (p.Ser1402=) | |
10 | g.94298530T>G | CA470986542 | PLCE1 | c.4395T>G (p.Ser1465=) c.*1862T>G (n.*1862T>G) n.2054T>G n.738T>G c.*603T>G (n.*603T>G) c.4347T>G (p.Ser1449=) n.9527T>G n.2992T>G c.5187T>G (p.Ser1729=) c.5271T>G (p.Ser1757=) c.5319T>G (p.Ser1773=) c.4293T>G (p.Ser1431=) c.3874T>G c.3435T>G (p.Ser1145=) c.*1252T>G (n.*1252T>G) c.4588T>G c.5361T>G (p.Ser1787=) c.5358T>G (p.Ser1786=) c.5313T>G (p.Ser1771=) c.4437T>G (p.Ser1479=) c.4206T>G (p.Ser1402=) | |
10 | g.94298531C>A | CA377641974 | PLCE1 | c.4396C>A (p.Gln1466Lys) c.*1863C>A (n.*1863C>A) n.2055C>A n.739C>A c.*604C>A (n.*604C>A) c.4348C>A (p.Gln1450Lys) n.9528C>A n.2993C>A c.5188C>A (p.Gln1730Lys) c.5272C>A (p.Gln1758Lys) c.5320C>A (p.Gln1774Lys) c.4294C>A (p.Gln1432Lys) c.3875C>A c.3436C>A (p.Gln1146Lys) c.*1253C>A (n.*1253C>A) c.4589C>A c.5362C>A (p.Gln1788Lys) c.5359C>A (p.Gln1787Lys) c.5314C>A (p.Gln1772Lys) c.4438C>A (p.Gln1480Lys) c.4207C>A (p.Gln1403Lys) | |
10 | g.94298531C= | CA1928998427 | PLCE1 | c.4396C= (p.Gln1466=) c.*1863C= (n.*1863C=) n.2055C= n.739C= c.*604C= (n.*604C=) c.4348C= (p.Gln1450=) n.9528C= n.2993C= c.5188C= (p.Gln1730=) c.5272C= (p.Gln1758=) c.5320C= (p.Gln1774=) c.4294C= (p.Gln1432=) c.3875C= c.3436C= (p.Gln1146=) c.*1253C= (n.*1253C=) c.4589C= c.5362C= (p.Gln1788=) c.5359C= (p.Gln1787=) c.5314C= (p.Gln1772=) c.4438C= (p.Gln1480=) c.4207C= (p.Gln1403=) | |
10 | g.94298531C>G | CA377641975 | PLCE1 | c.4396C>G (p.Gln1466Glu) c.*1863C>G (n.*1863C>G) n.2055C>G n.739C>G c.*604C>G (n.*604C>G) c.4348C>G (p.Gln1450Glu) n.9528C>G n.2993C>G c.5188C>G (p.Gln1730Glu) c.5272C>G (p.Gln1758Glu) c.5320C>G (p.Gln1774Glu) c.4294C>G (p.Gln1432Glu) c.3875C>G c.3436C>G (p.Gln1146Glu) c.*1253C>G (n.*1253C>G) c.4589C>G c.5362C>G (p.Gln1788Glu) c.5359C>G (p.Gln1787Glu) c.5314C>G (p.Gln1772Glu) c.4438C>G (p.Gln1480Glu) c.4207C>G (p.Gln1403Glu) | |
10 | g.94298531C>T | CA377641976 | PLCE1 | c.4396C>T (p.Gln1466Ter) c.*1863C>T (n.*1863C>T) n.2055C>T n.739C>T c.*604C>T (n.*604C>T) c.4348C>T (p.Gln1450Ter) n.9528C>T n.2993C>T c.5188C>T (p.Gln1730Ter) c.5272C>T (p.Gln1758Ter) c.5320C>T (p.Gln1774Ter) c.4294C>T (p.Gln1432Ter) c.3875C>T c.3436C>T (p.Gln1146Ter) c.*1253C>T (n.*1253C>T) c.4589C>T c.5362C>T (p.Gln1788Ter) c.5359C>T (p.Gln1787Ter) c.5314C>T (p.Gln1772Ter) c.4438C>T (p.Gln1480Ter) c.4207C>T (p.Gln1403Ter) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298532A>C | CA377641977 | PLCE1 | c.4397A>C (p.Gln1466Pro) c.*1864A>C (n.*1864A>C) n.2056A>C n.740A>C c.*605A>C (n.*605A>C) c.4349A>C (p.Gln1450Pro) n.9529A>C n.2994A>C c.5189A>C (p.Gln1730Pro) c.5273A>C (p.Gln1758Pro) c.5321A>C (p.Gln1774Pro) c.4295A>C (p.Gln1432Pro) c.3876A>C c.3437A>C (p.Gln1146Pro) c.*1254A>C (n.*1254A>C) c.4590A>C c.5363A>C (p.Gln1788Pro) c.5360A>C (p.Gln1787Pro) c.5315A>C (p.Gln1772Pro) c.4439A>C (p.Gln1480Pro) c.4208A>C (p.Gln1403Pro) | |
10 | g.94298532A>G | CA377641978 | PLCE1 | c.4397A>G (p.Gln1466Arg) c.*1864A>G (n.*1864A>G) n.2056A>G n.740A>G c.*605A>G (n.*605A>G) c.4349A>G (p.Gln1450Arg) n.9529A>G n.2994A>G c.5189A>G (p.Gln1730Arg) c.5273A>G (p.Gln1758Arg) c.5321A>G (p.Gln1774Arg) c.4295A>G (p.Gln1432Arg) c.3876A>G c.3437A>G (p.Gln1146Arg) c.*1254A>G (n.*1254A>G) c.4590A>G c.5363A>G (p.Gln1788Arg) c.5360A>G (p.Gln1787Arg) c.5315A>G (p.Gln1772Arg) c.4439A>G (p.Gln1480Arg) c.4208A>G (p.Gln1403Arg) | |
10 | g.94298532A>T | CA377641979 | PLCE1 | c.4397A>T (p.Gln1466Leu) c.*1864A>T (n.*1864A>T) n.2056A>T n.740A>T c.*605A>T (n.*605A>T) c.4349A>T (p.Gln1450Leu) n.9529A>T n.2994A>T c.5189A>T (p.Gln1730Leu) c.5273A>T (p.Gln1758Leu) c.5321A>T (p.Gln1774Leu) c.4295A>T (p.Gln1432Leu) c.3876A>T c.3437A>T (p.Gln1146Leu) c.*1254A>T (n.*1254A>T) c.4590A>T c.5363A>T (p.Gln1788Leu) c.5360A>T (p.Gln1787Leu) c.5315A>T (p.Gln1772Leu) c.4439A>T (p.Gln1480Leu) c.4208A>T (p.Gln1403Leu) | |
10 | g.94298533G>A | CA470986544 | PLCE1 | c.4398G>A (p.Gln1466=) c.*1865G>A (n.*1865G>A) n.2057G>A n.741G>A c.*606G>A (n.*606G>A) c.4350G>A (p.Gln1450=) n.9530G>A n.2995G>A c.5190G>A (p.Gln1730=) c.5274G>A (p.Gln1758=) c.5322G>A (p.Gln1774=) c.4296G>A (p.Gln1432=) c.3877G>A c.3438G>A (p.Gln1146=) c.*1255G>A (n.*1255G>A) c.4591G>A c.5364G>A (p.Gln1788=) c.5361G>A (p.Gln1787=) c.5316G>A (p.Gln1772=) c.4440G>A (p.Gln1480=) c.4209G>A (p.Gln1403=) | |
10 | g.94298533G>C | CA377641980 | PLCE1 | c.4398G>C (p.Gln1466His) c.*1865G>C (n.*1865G>C) n.2057G>C n.741G>C c.*606G>C (n.*606G>C) c.4350G>C (p.Gln1450His) n.9530G>C n.2995G>C c.5190G>C (p.Gln1730His) c.5274G>C (p.Gln1758His) c.5322G>C (p.Gln1774His) c.4296G>C (p.Gln1432His) c.3877G>C c.3438G>C (p.Gln1146His) c.*1255G>C (n.*1255G>C) c.4591G>C c.5364G>C (p.Gln1788His) c.5361G>C (p.Gln1787His) c.5316G>C (p.Gln1772His) c.4440G>C (p.Gln1480His) c.4209G>C (p.Gln1403His) | |
10 | g.94298533G>T | CA377641981 | PLCE1 | c.4398G>T (p.Gln1466His) c.*1865G>T (n.*1865G>T) n.2057G>T n.741G>T c.*606G>T (n.*606G>T) c.4350G>T (p.Gln1450His) n.9530G>T n.2995G>T c.5190G>T (p.Gln1730His) c.5274G>T (p.Gln1758His) c.5322G>T (p.Gln1774His) c.4296G>T (p.Gln1432His) c.3877G>T c.3438G>T (p.Gln1146His) c.*1255G>T (n.*1255G>T) c.4591G>T c.5364G>T (p.Gln1788His) c.5361G>T (p.Gln1787His) c.5316G>T (p.Gln1772His) c.4440G>T (p.Gln1480His) c.4209G>T (p.Gln1403His) | |
10 | g.94298534A>C | CA377641984 | PLCE1 | c.4399A>C (p.Lys1467Gln) c.*1866A>C (n.*1866A>C) n.2058A>C n.742A>C c.*607A>C (n.*607A>C) c.4351A>C (p.Lys1451Gln) n.9531A>C n.2996A>C c.5191A>C (p.Lys1731Gln) c.5275A>C (p.Lys1759Gln) c.5323A>C (p.Lys1775Gln) c.4297A>C (p.Lys1433Gln) c.3878A>C c.3439A>C (p.Lys1147Gln) c.*1256A>C (n.*1256A>C) c.4592A>C c.5365A>C (p.Lys1789Gln) c.5362A>C (p.Lys1788Gln) c.5317A>C (p.Lys1773Gln) c.4441A>C (p.Lys1481Gln) c.4210A>C (p.Lys1404Gln) | |
10 | g.94298534A>G | CA377641983 | PLCE1 | c.4399A>G (p.Lys1467Glu) c.*1866A>G (n.*1866A>G) n.2058A>G n.742A>G c.*607A>G (n.*607A>G) c.4351A>G (p.Lys1451Glu) n.9531A>G n.2996A>G c.5191A>G (p.Lys1731Glu) c.5275A>G (p.Lys1759Glu) c.5323A>G (p.Lys1775Glu) c.4297A>G (p.Lys1433Glu) c.3878A>G c.3439A>G (p.Lys1147Glu) c.*1256A>G (n.*1256A>G) c.4592A>G c.5365A>G (p.Lys1789Glu) c.5362A>G (p.Lys1788Glu) c.5317A>G (p.Lys1773Glu) c.4441A>G (p.Lys1481Glu) c.4210A>G (p.Lys1404Glu) | |
10 | g.94298534A>T | CA377641982 | PLCE1 | c.4399A>T (p.Lys1467Ter) c.*1866A>T (n.*1866A>T) n.2058A>T n.742A>T c.*607A>T (n.*607A>T) c.4351A>T (p.Lys1451Ter) n.9531A>T n.2996A>T c.5191A>T (p.Lys1731Ter) c.5275A>T (p.Lys1759Ter) c.5323A>T (p.Lys1775Ter) c.4297A>T (p.Lys1433Ter) c.3878A>T c.3439A>T (p.Lys1147Ter) c.*1256A>T (n.*1256A>T) c.4592A>T c.5365A>T (p.Lys1789Ter) c.5362A>T (p.Lys1788Ter) c.5317A>T (p.Lys1773Ter) c.4441A>T (p.Lys1481Ter) c.4210A>T (p.Lys1404Ter) | |
10 | g.94298535A>C | CA377641985 | PLCE1 | c.4400A>C (p.Lys1467Thr) c.*1867A>C (n.*1867A>C) n.2059A>C n.743A>C c.*608A>C (n.*608A>C) c.4352A>C (p.Lys1451Thr) n.9532A>C n.2997A>C c.5192A>C (p.Lys1731Thr) c.5276A>C (p.Lys1759Thr) c.5324A>C (p.Lys1775Thr) c.4298A>C (p.Lys1433Thr) c.3879A>C c.3440A>C (p.Lys1147Thr) c.*1257A>C (n.*1257A>C) c.4593A>C c.5366A>C (p.Lys1789Thr) c.5363A>C (p.Lys1788Thr) c.5318A>C (p.Lys1773Thr) c.4442A>C (p.Lys1481Thr) c.4211A>C (p.Lys1404Thr) | |
10 | g.94298535A>G | CA377641986 | PLCE1 | c.4400A>G (p.Lys1467Arg) c.*1867A>G (n.*1867A>G) n.2059A>G n.743A>G c.*608A>G (n.*608A>G) c.4352A>G (p.Lys1451Arg) n.9532A>G n.2997A>G c.5192A>G (p.Lys1731Arg) c.5276A>G (p.Lys1759Arg) c.5324A>G (p.Lys1775Arg) c.4298A>G (p.Lys1433Arg) c.3879A>G c.3440A>G (p.Lys1147Arg) c.*1257A>G (n.*1257A>G) c.4593A>G c.5366A>G (p.Lys1789Arg) c.5363A>G (p.Lys1788Arg) c.5318A>G (p.Lys1773Arg) c.4442A>G (p.Lys1481Arg) c.4211A>G (p.Lys1404Arg) | gnomAD v4 |
10 | g.94298535A>T | CA377641987 | PLCE1 | c.4400A>T (p.Lys1467Ile) c.*1867A>T (n.*1867A>T) n.2059A>T n.743A>T c.*608A>T (n.*608A>T) c.4352A>T (p.Lys1451Ile) n.9532A>T n.2997A>T c.5192A>T (p.Lys1731Ile) c.5276A>T (p.Lys1759Ile) c.5324A>T (p.Lys1775Ile) c.4298A>T (p.Lys1433Ile) c.3879A>T c.3440A>T (p.Lys1147Ile) c.*1257A>T (n.*1257A>T) c.4593A>T c.5366A>T (p.Lys1789Ile) c.5363A>T (p.Lys1788Ile) c.5318A>T (p.Lys1773Ile) c.4442A>T (p.Lys1481Ile) c.4211A>T (p.Lys1404Ile) | |
10 | g.94298535_94298536insT | CA645550159 | PLCE1 | c.4400_4401insT (p.Lys1467AsnfsTer?) c.*1867_*1868insT (n.*1867_*1868insT) n.2059_2060insT n.743_744insT c.*608_*609insT (n.*608_*609insT) c.4352_4353insT (p.Lys1451AsnfsTer?) n.9532_9533insT n.2997_2998insT c.5192_5193insT (p.Lys1731AsnfsTer?) c.5276_5277insT (p.Lys1759AsnfsTer?) c.5324_5325insT (p.Lys1775AsnfsTer?) c.4298_4299insT (p.Lys1433AsnfsTer?) c.3879_3880insT c.3440_3441insT (p.Lys1147AsnfsTer?) c.*1257_*1258insT (n.*1257_*1258insT) c.4593_4594insT c.5366_5367insT (p.Lys1789AsnfsTer?) c.5363_5364insT (p.Lys1788AsnfsTer?) c.5318_5319insT (p.Lys1773AsnfsTer?) c.4442_4443insT (p.Lys1481AsnfsTer?) c.4211_4212insT (p.Lys1404AsnfsTer?) | COSMIC COSMIC COSMIC COSMIC |
10 | g.94298536A= | CA1928998428 | PLCE1 | c.4401A= (p.Lys1467=) c.*1868A= (n.*1868A=) n.2060A= n.744A= c.*609A= (n.*609A=) c.4353A= (p.Lys1451=) n.9533A= n.2998A= c.5193A= (p.Lys1731=) c.5277A= (p.Lys1759=) c.5325A= (p.Lys1775=) c.4299A= (p.Lys1433=) c.3880A= c.3441A= (p.Lys1147=) c.*1258A= (n.*1258A=) c.4594A= c.5367A= (p.Lys1789=) c.5364A= (p.Lys1788=) c.5319A= (p.Lys1773=) c.4443A= (p.Lys1481=) c.4212A= (p.Lys1404=) | |
10 | g.94298536A>C | CA377641988 | PLCE1 | c.4401A>C (p.Lys1467Asn) c.*1868A>C (n.*1868A>C) n.2060A>C n.744A>C c.*609A>C (n.*609A>C) c.4353A>C (p.Lys1451Asn) n.9533A>C n.2998A>C c.5193A>C (p.Lys1731Asn) c.5277A>C (p.Lys1759Asn) c.5325A>C (p.Lys1775Asn) c.4299A>C (p.Lys1433Asn) c.3880A>C c.3441A>C (p.Lys1147Asn) c.*1258A>C (n.*1258A>C) c.4594A>C c.5367A>C (p.Lys1789Asn) c.5364A>C (p.Lys1788Asn) c.5319A>C (p.Lys1773Asn) c.4443A>C (p.Lys1481Asn) c.4212A>C (p.Lys1404Asn) | |
10 | g.94298536A>G | CA470986546 | PLCE1 | c.4401A>G (p.Lys1467=) c.*1868A>G (n.*1868A>G) n.2060A>G n.744A>G c.*609A>G (n.*609A>G) c.4353A>G (p.Lys1451=) n.9533A>G n.2998A>G c.5193A>G (p.Lys1731=) c.5277A>G (p.Lys1759=) c.5325A>G (p.Lys1775=) c.4299A>G (p.Lys1433=) c.3880A>G c.3441A>G (p.Lys1147=) c.*1258A>G (n.*1258A>G) c.4594A>G c.5367A>G (p.Lys1789=) c.5364A>G (p.Lys1788=) c.5319A>G (p.Lys1773=) c.4443A>G (p.Lys1481=) c.4212A>G (p.Lys1404=) | dbSNP gnomAD v4 |
10 | g.94298536A>T | CA377641989 | PLCE1 | c.4401A>T (p.Lys1467Asn) c.*1868A>T (n.*1868A>T) n.2060A>T n.744A>T c.*609A>T (n.*609A>T) c.4353A>T (p.Lys1451Asn) n.9533A>T n.2998A>T c.5193A>T (p.Lys1731Asn) c.5277A>T (p.Lys1759Asn) c.5325A>T (p.Lys1775Asn) c.4299A>T (p.Lys1433Asn) c.3880A>T c.3441A>T (p.Lys1147Asn) c.*1258A>T (n.*1258A>T) c.4594A>T c.5367A>T (p.Lys1789Asn) c.5364A>T (p.Lys1788Asn) c.5319A>T (p.Lys1773Asn) c.4443A>T (p.Lys1481Asn) c.4212A>T (p.Lys1404Asn) | |
10 | g.94298537C>A | CA377641990 | PLCE1 | c.4402C>A (p.Leu1468Met) c.*1869C>A (n.*1869C>A) n.2061C>A n.745C>A c.*610C>A (n.*610C>A) c.4354C>A (p.Leu1452Met) n.9534C>A n.2999C>A c.5194C>A (p.Leu1732Met) c.5278C>A (p.Leu1760Met) c.5326C>A (p.Leu1776Met) c.4300C>A (p.Leu1434Met) c.3881C>A c.3442C>A (p.Leu1148Met) c.*1259C>A (n.*1259C>A) c.4595C>A c.5368C>A (p.Leu1790Met) c.5365C>A (p.Leu1789Met) c.5320C>A (p.Leu1774Met) c.4444C>A (p.Leu1482Met) c.4213C>A (p.Leu1405Met) | |
10 | g.94298537C>G | CA377641991 | PLCE1 | c.4402C>G (p.Leu1468Val) c.*1869C>G (n.*1869C>G) n.2061C>G n.745C>G c.*610C>G (n.*610C>G) c.4354C>G (p.Leu1452Val) n.9534C>G n.2999C>G c.5194C>G (p.Leu1732Val) c.5278C>G (p.Leu1760Val) c.5326C>G (p.Leu1776Val) c.4300C>G (p.Leu1434Val) c.3881C>G c.3442C>G (p.Leu1148Val) c.*1259C>G (n.*1259C>G) c.4595C>G c.5368C>G (p.Leu1790Val) c.5365C>G (p.Leu1789Val) c.5320C>G (p.Leu1774Val) c.4444C>G (p.Leu1482Val) c.4213C>G (p.Leu1405Val) | gnomAD v4 |
10 | g.94298537C>T | CA470986547 | PLCE1 | c.4402C>T (p.Leu1468=) c.*1869C>T (n.*1869C>T) n.2061C>T n.745C>T c.*610C>T (n.*610C>T) c.4354C>T (p.Leu1452=) n.9534C>T n.2999C>T c.5194C>T (p.Leu1732=) c.5278C>T (p.Leu1760=) c.5326C>T (p.Leu1776=) c.4300C>T (p.Leu1434=) c.3881C>T c.3442C>T (p.Leu1148=) c.*1259C>T (n.*1259C>T) c.4595C>T c.5368C>T (p.Leu1790=) c.5365C>T (p.Leu1789=) c.5320C>T (p.Leu1774=) c.4444C>T (p.Leu1482=) c.4213C>T (p.Leu1405=) | |
10 | g.94298538T>A | CA377641992 | PLCE1 | c.4403T>A (p.Leu1468Gln) c.*1870T>A (n.*1870T>A) n.2062T>A n.746T>A c.*611T>A (n.*611T>A) c.4355T>A (p.Leu1452Gln) n.9535T>A n.3000T>A c.5195T>A (p.Leu1732Gln) c.5279T>A (p.Leu1760Gln) c.5327T>A (p.Leu1776Gln) c.4301T>A (p.Leu1434Gln) c.3882T>A c.3443T>A (p.Leu1148Gln) c.*1260T>A (n.*1260T>A) c.4596T>A c.5369T>A (p.Leu1790Gln) c.5366T>A (p.Leu1789Gln) c.5321T>A (p.Leu1774Gln) c.4445T>A (p.Leu1482Gln) c.4214T>A (p.Leu1405Gln) | |
10 | g.94298538T>C | CA377641993 | PLCE1 | c.4403T>C (p.Leu1468Pro) c.*1870T>C (n.*1870T>C) n.2062T>C n.746T>C c.*611T>C (n.*611T>C) c.4355T>C (p.Leu1452Pro) n.9535T>C n.3000T>C c.5195T>C (p.Leu1732Pro) c.5279T>C (p.Leu1760Pro) c.5327T>C (p.Leu1776Pro) c.4301T>C (p.Leu1434Pro) c.3882T>C c.3443T>C (p.Leu1148Pro) c.*1260T>C (n.*1260T>C) c.4596T>C c.5369T>C (p.Leu1790Pro) c.5366T>C (p.Leu1789Pro) c.5321T>C (p.Leu1774Pro) c.4445T>C (p.Leu1482Pro) c.4214T>C (p.Leu1405Pro) | |
10 | g.94298538T>G | CA377641994 | PLCE1 | c.4403T>G (p.Leu1468Arg) c.*1870T>G (n.*1870T>G) n.2062T>G n.746T>G c.*611T>G (n.*611T>G) c.4355T>G (p.Leu1452Arg) n.9535T>G n.3000T>G c.5195T>G (p.Leu1732Arg) c.5279T>G (p.Leu1760Arg) c.5327T>G (p.Leu1776Arg) c.4301T>G (p.Leu1434Arg) c.3882T>G c.3443T>G (p.Leu1148Arg) c.*1260T>G (n.*1260T>G) c.4596T>G c.5369T>G (p.Leu1790Arg) c.5366T>G (p.Leu1789Arg) c.5321T>G (p.Leu1774Arg) c.4445T>G (p.Leu1482Arg) c.4214T>G (p.Leu1405Arg) | |
10 | g.94298539G>A | CA470986549 | PLCE1 | c.4404G>A (p.Leu1468=) c.*1871G>A (n.*1871G>A) n.2063G>A n.747G>A c.*612G>A (n.*612G>A) c.4356G>A (p.Leu1452=) n.9536G>A n.3001G>A c.5196G>A (p.Leu1732=) c.5280G>A (p.Leu1760=) c.5328G>A (p.Leu1776=) c.4302G>A (p.Leu1434=) c.3883G>A c.3444G>A (p.Leu1148=) c.*1261G>A (n.*1261G>A) c.4597G>A c.5370G>A (p.Leu1790=) c.5367G>A (p.Leu1789=) c.5322G>A (p.Leu1774=) c.4446G>A (p.Leu1482=) c.4215G>A (p.Leu1405=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298539G>C | CA470986550 | PLCE1 | c.4404G>C (p.Leu1468=) c.*1871G>C (n.*1871G>C) n.2063G>C n.747G>C c.*612G>C (n.*612G>C) c.4356G>C (p.Leu1452=) n.9536G>C n.3001G>C c.5196G>C (p.Leu1732=) c.5280G>C (p.Leu1760=) c.5328G>C (p.Leu1776=) c.4302G>C (p.Leu1434=) c.3883G>C c.3444G>C (p.Leu1148=) c.*1261G>C (n.*1261G>C) c.4597G>C c.5370G>C (p.Leu1790=) c.5367G>C (p.Leu1789=) c.5322G>C (p.Leu1774=) c.4446G>C (p.Leu1482=) c.4215G>C (p.Leu1405=) | gnomAD v4 |
10 | g.94298539G= | CA1928998429 | PLCE1 | c.4404G= (p.Leu1468=) c.*1871G= (n.*1871G=) n.2063G= n.747G= c.*612G= (n.*612G=) c.4356G= (p.Leu1452=) n.9536G= n.3001G= c.5196G= (p.Leu1732=) c.5280G= (p.Leu1760=) c.5328G= (p.Leu1776=) c.4302G= (p.Leu1434=) c.3883G= c.3444G= (p.Leu1148=) c.*1261G= (n.*1261G=) c.4597G= c.5370G= (p.Leu1790=) c.5367G= (p.Leu1789=) c.5322G= (p.Leu1774=) c.4446G= (p.Leu1482=) c.4215G= (p.Leu1405=) | |
10 | g.94298539G>T | CA470986551 | PLCE1 | c.4404G>T (p.Leu1468=) c.*1871G>T (n.*1871G>T) n.2063G>T n.747G>T c.*612G>T (n.*612G>T) c.4356G>T (p.Leu1452=) n.9536G>T n.3001G>T c.5196G>T (p.Leu1732=) c.5280G>T (p.Leu1760=) c.5328G>T (p.Leu1776=) c.4302G>T (p.Leu1434=) c.3883G>T c.3444G>T (p.Leu1148=) c.*1261G>T (n.*1261G>T) c.4597G>T c.5370G>T (p.Leu1790=) c.5367G>T (p.Leu1789=) c.5322G>T (p.Leu1774=) c.4446G>T (p.Leu1482=) c.4215G>T (p.Leu1405=) | |
10 | g.94298540A>C | CA377641995 | PLCE1 | c.4405A>C (p.Thr1469Pro) c.*1872A>C (n.*1872A>C) n.2064A>C n.748A>C c.*613A>C (n.*613A>C) c.4357A>C (p.Thr1453Pro) n.9537A>C n.3002A>C c.5197A>C (p.Thr1733Pro) c.5281A>C (p.Thr1761Pro) c.5329A>C (p.Thr1777Pro) c.4303A>C (p.Thr1435Pro) c.3884A>C c.3445A>C (p.Thr1149Pro) c.*1262A>C (n.*1262A>C) c.4598A>C c.5371A>C (p.Thr1791Pro) c.5368A>C (p.Thr1790Pro) c.5323A>C (p.Thr1775Pro) c.4447A>C (p.Thr1483Pro) c.4216A>C (p.Thr1406Pro) | |
10 | g.94298540A>G | CA377641996 | PLCE1 | c.4405A>G (p.Thr1469Ala) c.*1872A>G (n.*1872A>G) n.2064A>G n.748A>G c.*613A>G (n.*613A>G) c.4357A>G (p.Thr1453Ala) n.9537A>G n.3002A>G c.5197A>G (p.Thr1733Ala) c.5281A>G (p.Thr1761Ala) c.5329A>G (p.Thr1777Ala) c.4303A>G (p.Thr1435Ala) c.3884A>G c.3445A>G (p.Thr1149Ala) c.*1262A>G (n.*1262A>G) c.4598A>G c.5371A>G (p.Thr1791Ala) c.5368A>G (p.Thr1790Ala) c.5323A>G (p.Thr1775Ala) c.4447A>G (p.Thr1483Ala) c.4216A>G (p.Thr1406Ala) | ClinVar gnomAD v4 |
10 | g.94298540A>T | CA377641997 | PLCE1 | c.4405A>T (p.Thr1469Ser) c.*1872A>T (n.*1872A>T) n.2064A>T n.748A>T c.*613A>T (n.*613A>T) c.4357A>T (p.Thr1453Ser) n.9537A>T n.3002A>T c.5197A>T (p.Thr1733Ser) c.5281A>T (p.Thr1761Ser) c.5329A>T (p.Thr1777Ser) c.4303A>T (p.Thr1435Ser) c.3884A>T c.3445A>T (p.Thr1149Ser) c.*1262A>T (n.*1262A>T) c.4598A>T c.5371A>T (p.Thr1791Ser) c.5368A>T (p.Thr1790Ser) c.5323A>T (p.Thr1775Ser) c.4447A>T (p.Thr1483Ser) c.4216A>T (p.Thr1406Ser) | |
10 | g.94298541C>A | CA377641998 | PLCE1 | c.4406C>A (p.Thr1469Asn) c.*1873C>A (n.*1873C>A) n.2065C>A n.749C>A c.*614C>A (n.*614C>A) c.4358C>A (p.Thr1453Asn) n.9538C>A n.3003C>A c.5198C>A (p.Thr1733Asn) c.5282C>A (p.Thr1761Asn) c.5330C>A (p.Thr1777Asn) c.4304C>A (p.Thr1435Asn) c.3885C>A c.3446C>A (p.Thr1149Asn) c.*1263C>A (n.*1263C>A) c.4599C>A c.5372C>A (p.Thr1791Asn) c.5369C>A (p.Thr1790Asn) c.5324C>A (p.Thr1775Asn) c.4448C>A (p.Thr1483Asn) c.4217C>A (p.Thr1406Asn) | dbSNP |
10 | g.94298541C= | CA1928998430 | PLCE1 | c.4406C= (p.Thr1469=) c.*1873C= (n.*1873C=) n.2065C= n.749C= c.*614C= (n.*614C=) c.4358C= (p.Thr1453=) n.9538C= n.3003C= c.5198C= (p.Thr1733=) c.5282C= (p.Thr1761=) c.5330C= (p.Thr1777=) c.4304C= (p.Thr1435=) c.3885C= c.3446C= (p.Thr1149=) c.*1263C= (n.*1263C=) c.4599C= c.5372C= (p.Thr1791=) c.5369C= (p.Thr1790=) c.5324C= (p.Thr1775=) c.4448C= (p.Thr1483=) c.4217C= (p.Thr1406=) | |
10 | g.94298541C>G | CA377641999 | PLCE1 | c.4406C>G (p.Thr1469Ser) c.*1873C>G (n.*1873C>G) n.2065C>G n.749C>G c.*614C>G (n.*614C>G) c.4358C>G (p.Thr1453Ser) n.9538C>G n.3003C>G c.5198C>G (p.Thr1733Ser) c.5282C>G (p.Thr1761Ser) c.5330C>G (p.Thr1777Ser) c.4304C>G (p.Thr1435Ser) c.3885C>G c.3446C>G (p.Thr1149Ser) c.*1263C>G (n.*1263C>G) c.4599C>G c.5372C>G (p.Thr1791Ser) c.5369C>G (p.Thr1790Ser) c.5324C>G (p.Thr1775Ser) c.4448C>G (p.Thr1483Ser) c.4217C>G (p.Thr1406Ser) | |
10 | g.94298541C>T | CA5613337 | PLCE1 | c.4406C>T (p.Thr1469Ile) c.*1873C>T (n.*1873C>T) n.2065C>T n.749C>T c.*614C>T (n.*614C>T) c.4358C>T (p.Thr1453Ile) n.9538C>T n.3003C>T c.5198C>T (p.Thr1733Ile) c.5282C>T (p.Thr1761Ile) c.5330C>T (p.Thr1777Ile) c.4304C>T (p.Thr1435Ile) c.3885C>T c.3446C>T (p.Thr1149Ile) c.*1263C>T (n.*1263C>T) c.4599C>T c.5372C>T (p.Thr1791Ile) c.5369C>T (p.Thr1790Ile) c.5324C>T (p.Thr1775Ile) c.4448C>T (p.Thr1483Ile) c.4217C>T (p.Thr1406Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298542_94298543del | CA2789048720 | PLCE1 | c.4407_4408del (p.Gln1470AlafsTer?) c.*1874_*1875del (n.*1874_*1875del) n.2066_2067del n.750_751del c.*615_*616del (n.*615_*616del) c.4359_4360del (p.Gln1454AlafsTer?) n.9539_9540del n.3004_3005del c.5199_5200del (p.Gln1734AlafsTer?) c.5283_5284del (p.Gln1762AlafsTer?) c.5331_5332del (p.Gln1778AlafsTer?) c.4305_4306del (p.Gln1436AlafsTer?) c.3886_3887del c.3447_3448del (p.Gln1150AlafsTer?) c.*1264_*1265del (n.*1264_*1265del) c.4600_4601del c.5373_5374del (p.Gln1792AlafsTer?) c.5370_5371del (p.Gln1791AlafsTer?) c.5325_5326del (p.Gln1776AlafsTer?) c.4449_4450del (p.Gln1484AlafsTer?) c.4218_4219del (p.Gln1407AlafsTer?) |