| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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=) | |
| 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) |