| 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) | ClinVar 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) | ClinVar 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=) |