Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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?) | |
10 | g.94298542C>A | CA470986554 | PLCE1 | c.4407C>A (p.Thr1469=) c.*1874C>A (n.*1874C>A) n.2066C>A n.750C>A c.*615C>A (n.*615C>A) c.4359C>A (p.Thr1453=) n.9539C>A n.3004C>A c.5199C>A (p.Thr1733=) c.5283C>A (p.Thr1761=) c.5331C>A (p.Thr1777=) c.4305C>A (p.Thr1435=) c.3886C>A c.3447C>A (p.Thr1149=) c.*1264C>A (n.*1264C>A) c.4600C>A c.5373C>A (p.Thr1791=) c.5370C>A (p.Thr1790=) c.5325C>A (p.Thr1775=) c.4449C>A (p.Thr1483=) c.4218C>A (p.Thr1406=) | |
10 | g.94298542C= | CA1928998431 | PLCE1 | c.4407C= (p.Thr1469=) c.*1874C= (n.*1874C=) n.2066C= n.750C= c.*615C= (n.*615C=) c.4359C= (p.Thr1453=) n.9539C= n.3004C= c.5199C= (p.Thr1733=) c.5283C= (p.Thr1761=) c.5331C= (p.Thr1777=) c.4305C= (p.Thr1435=) c.3886C= c.3447C= (p.Thr1149=) c.*1264C= (n.*1264C=) c.4600C= c.5373C= (p.Thr1791=) c.5370C= (p.Thr1790=) c.5325C= (p.Thr1775=) c.4449C= (p.Thr1483=) c.4218C= (p.Thr1406=) | |
10 | g.94298542C>G | CA470986553 | PLCE1 | c.4407C>G (p.Thr1469=) c.*1874C>G (n.*1874C>G) n.2066C>G n.750C>G c.*615C>G (n.*615C>G) c.4359C>G (p.Thr1453=) n.9539C>G n.3004C>G c.5199C>G (p.Thr1733=) c.5283C>G (p.Thr1761=) c.5331C>G (p.Thr1777=) c.4305C>G (p.Thr1435=) c.3886C>G c.3447C>G (p.Thr1149=) c.*1264C>G (n.*1264C>G) c.4600C>G c.5373C>G (p.Thr1791=) c.5370C>G (p.Thr1790=) c.5325C>G (p.Thr1775=) c.4449C>G (p.Thr1483=) c.4218C>G (p.Thr1406=) | |
10 | g.94298542C>T | CA5613338 | PLCE1 | c.4407C>T (p.Thr1469=) c.*1874C>T (n.*1874C>T) n.2066C>T n.750C>T c.*615C>T (n.*615C>T) c.4359C>T (p.Thr1453=) n.9539C>T n.3004C>T c.5199C>T (p.Thr1733=) c.5283C>T (p.Thr1761=) c.5331C>T (p.Thr1777=) c.4305C>T (p.Thr1435=) c.3886C>T c.3447C>T (p.Thr1149=) c.*1264C>T (n.*1264C>T) c.4600C>T c.5373C>T (p.Thr1791=) c.5370C>T (p.Thr1790=) c.5325C>T (p.Thr1775=) c.4449C>T (p.Thr1483=) c.4218C>T (p.Thr1406=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298543C>A | CA377642000 | PLCE1 | c.4408C>A (p.Gln1470Lys) c.*1875C>A (n.*1875C>A) n.2067C>A n.751C>A c.*616C>A (n.*616C>A) c.4360C>A (p.Gln1454Lys) n.9540C>A n.3005C>A c.5200C>A (p.Gln1734Lys) c.5284C>A (p.Gln1762Lys) c.5332C>A (p.Gln1778Lys) c.4306C>A (p.Gln1436Lys) c.3887C>A c.3448C>A (p.Gln1150Lys) c.*1265C>A (n.*1265C>A) c.4601C>A c.5374C>A (p.Gln1792Lys) c.5371C>A (p.Gln1791Lys) c.5326C>A (p.Gln1776Lys) c.4450C>A (p.Gln1484Lys) c.4219C>A (p.Gln1407Lys) | |
10 | g.94298543C>G | CA377642001 | PLCE1 | c.4408C>G (p.Gln1470Glu) c.*1875C>G (n.*1875C>G) n.2067C>G n.751C>G c.*616C>G (n.*616C>G) c.4360C>G (p.Gln1454Glu) n.9540C>G n.3005C>G c.5200C>G (p.Gln1734Glu) c.5284C>G (p.Gln1762Glu) c.5332C>G (p.Gln1778Glu) c.4306C>G (p.Gln1436Glu) c.3887C>G c.3448C>G (p.Gln1150Glu) c.*1265C>G (n.*1265C>G) c.4601C>G c.5374C>G (p.Gln1792Glu) c.5371C>G (p.Gln1791Glu) c.5326C>G (p.Gln1776Glu) c.4450C>G (p.Gln1484Glu) c.4219C>G (p.Gln1407Glu) | |
10 | g.94298543C>T | CA377642002 | PLCE1 | c.4408C>T (p.Gln1470Ter) c.*1875C>T (n.*1875C>T) n.2067C>T n.751C>T c.*616C>T (n.*616C>T) c.4360C>T (p.Gln1454Ter) n.9540C>T n.3005C>T c.5200C>T (p.Gln1734Ter) c.5284C>T (p.Gln1762Ter) c.5332C>T (p.Gln1778Ter) c.4306C>T (p.Gln1436Ter) c.3887C>T c.3448C>T (p.Gln1150Ter) c.*1265C>T (n.*1265C>T) c.4601C>T c.5374C>T (p.Gln1792Ter) c.5371C>T (p.Gln1791Ter) c.5326C>T (p.Gln1776Ter) c.4450C>T (p.Gln1484Ter) c.4219C>T (p.Gln1407Ter) | |
10 | g.94298544A>C | CA377642003 | PLCE1 | c.4409A>C (p.Gln1470Pro) c.*1876A>C (n.*1876A>C) n.2068A>C n.752A>C c.*617A>C (n.*617A>C) c.4361A>C (p.Gln1454Pro) n.9541A>C n.3006A>C c.5201A>C (p.Gln1734Pro) c.5285A>C (p.Gln1762Pro) c.5333A>C (p.Gln1778Pro) c.4307A>C (p.Gln1436Pro) c.3888A>C c.3449A>C (p.Gln1150Pro) c.*1266A>C (n.*1266A>C) c.4602A>C c.5375A>C (p.Gln1792Pro) c.5372A>C (p.Gln1791Pro) c.5327A>C (p.Gln1776Pro) c.4451A>C (p.Gln1484Pro) c.4220A>C (p.Gln1407Pro) | |
10 | g.94298544A>G | CA377642004 | PLCE1 | c.4409A>G (p.Gln1470Arg) c.*1876A>G (n.*1876A>G) n.2068A>G n.752A>G c.*617A>G (n.*617A>G) c.4361A>G (p.Gln1454Arg) n.9541A>G n.3006A>G c.5201A>G (p.Gln1734Arg) c.5285A>G (p.Gln1762Arg) c.5333A>G (p.Gln1778Arg) c.4307A>G (p.Gln1436Arg) c.3888A>G c.3449A>G (p.Gln1150Arg) c.*1266A>G (n.*1266A>G) c.4602A>G c.5375A>G (p.Gln1792Arg) c.5372A>G (p.Gln1791Arg) c.5327A>G (p.Gln1776Arg) c.4451A>G (p.Gln1484Arg) c.4220A>G (p.Gln1407Arg) | |
10 | g.94298544A>T | CA377642005 | PLCE1 | c.4409A>T (p.Gln1470Leu) c.*1876A>T (n.*1876A>T) n.2068A>T n.752A>T c.*617A>T (n.*617A>T) c.4361A>T (p.Gln1454Leu) n.9541A>T n.3006A>T c.5201A>T (p.Gln1734Leu) c.5285A>T (p.Gln1762Leu) c.5333A>T (p.Gln1778Leu) c.4307A>T (p.Gln1436Leu) c.3888A>T c.3449A>T (p.Gln1150Leu) c.*1266A>T (n.*1266A>T) c.4602A>T c.5375A>T (p.Gln1792Leu) c.5372A>T (p.Gln1791Leu) c.5327A>T (p.Gln1776Leu) c.4451A>T (p.Gln1484Leu) c.4220A>T (p.Gln1407Leu) | |
10 | g.94298545G>A | CA470986555 | PLCE1 | c.4410G>A (p.Gln1470=) c.*1877G>A (n.*1877G>A) n.2069G>A n.753G>A c.*618G>A (n.*618G>A) c.4362G>A (p.Gln1454=) n.9542G>A n.3007G>A c.5202G>A (p.Gln1734=) c.5286G>A (p.Gln1762=) c.5334G>A (p.Gln1778=) c.4308G>A (p.Gln1436=) c.3889G>A c.3450G>A (p.Gln1150=) c.*1267G>A (n.*1267G>A) c.4603G>A c.5376G>A (p.Gln1792=) c.5373G>A (p.Gln1791=) c.5328G>A (p.Gln1776=) c.4452G>A (p.Gln1484=) c.4221G>A (p.Gln1407=) | |
10 | g.94298545G>C | CA5613339 | PLCE1 | c.4410G>C (p.Gln1470His) c.*1877G>C (n.*1877G>C) n.2069G>C n.753G>C c.*618G>C (n.*618G>C) c.4362G>C (p.Gln1454His) n.9542G>C n.3007G>C c.5202G>C (p.Gln1734His) c.5286G>C (p.Gln1762His) c.5334G>C (p.Gln1778His) c.4308G>C (p.Gln1436His) c.3889G>C c.3450G>C (p.Gln1150His) c.*1267G>C (n.*1267G>C) c.4603G>C c.5376G>C (p.Gln1792His) c.5373G>C (p.Gln1791His) c.5328G>C (p.Gln1776His) c.4452G>C (p.Gln1484His) c.4221G>C (p.Gln1407His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298545G= | CA1928998432 | PLCE1 | c.4410G= (p.Gln1470=) c.*1877G= (n.*1877G=) n.2069G= n.753G= c.*618G= (n.*618G=) c.4362G= (p.Gln1454=) n.9542G= n.3007G= c.5202G= (p.Gln1734=) c.5286G= (p.Gln1762=) c.5334G= (p.Gln1778=) c.4308G= (p.Gln1436=) c.3889G= c.3450G= (p.Gln1150=) c.*1267G= (n.*1267G=) c.4603G= c.5376G= (p.Gln1792=) c.5373G= (p.Gln1791=) c.5328G= (p.Gln1776=) c.4452G= (p.Gln1484=) c.4221G= (p.Gln1407=) | |
10 | g.94298545G>T | CA377642006 | PLCE1 | c.4410G>T (p.Gln1470His) c.*1877G>T (n.*1877G>T) n.2069G>T n.753G>T c.*618G>T (n.*618G>T) c.4362G>T (p.Gln1454His) n.9542G>T n.3007G>T c.5202G>T (p.Gln1734His) c.5286G>T (p.Gln1762His) c.5334G>T (p.Gln1778His) c.4308G>T (p.Gln1436His) c.3889G>T c.3450G>T (p.Gln1150His) c.*1267G>T (n.*1267G>T) c.4603G>T c.5376G>T (p.Gln1792His) c.5373G>T (p.Gln1791His) c.5328G>T (p.Gln1776His) c.4452G>T (p.Gln1484His) c.4221G>T (p.Gln1407His) | |
10 | g.94298546C>A | CA377642007 | PLCE1 | c.4411C>A (p.His1471Asn) c.*1878C>A (n.*1878C>A) n.2070C>A n.754C>A c.*619C>A (n.*619C>A) c.4363C>A (p.His1455Asn) n.9543C>A n.3008C>A c.5203C>A (p.His1735Asn) c.5287C>A (p.His1763Asn) c.5335C>A (p.His1779Asn) c.4309C>A (p.His1437Asn) c.3890C>A c.3451C>A (p.His1151Asn) c.*1268C>A (n.*1268C>A) c.4604C>A c.5377C>A (p.His1793Asn) c.5374C>A (p.His1792Asn) c.5329C>A (p.His1777Asn) c.4453C>A (p.His1485Asn) c.4222C>A (p.His1408Asn) | |
10 | g.94298546C>G | CA377642008 | PLCE1 | c.4411C>G (p.His1471Asp) c.*1878C>G (n.*1878C>G) n.2070C>G n.754C>G c.*619C>G (n.*619C>G) c.4363C>G (p.His1455Asp) n.9543C>G n.3008C>G c.5203C>G (p.His1735Asp) c.5287C>G (p.His1763Asp) c.5335C>G (p.His1779Asp) c.4309C>G (p.His1437Asp) c.3890C>G c.3451C>G (p.His1151Asp) c.*1268C>G (n.*1268C>G) c.4604C>G c.5377C>G (p.His1793Asp) c.5374C>G (p.His1792Asp) c.5329C>G (p.His1777Asp) c.4453C>G (p.His1485Asp) c.4222C>G (p.His1408Asp) | |
10 | g.94298546C>T | CA377642009 | PLCE1 | c.4411C>T (p.His1471Tyr) c.*1878C>T (n.*1878C>T) n.2070C>T n.754C>T c.*619C>T (n.*619C>T) c.4363C>T (p.His1455Tyr) n.9543C>T n.3008C>T c.5203C>T (p.His1735Tyr) c.5287C>T (p.His1763Tyr) c.5335C>T (p.His1779Tyr) c.4309C>T (p.His1437Tyr) c.3890C>T c.3451C>T (p.His1151Tyr) c.*1268C>T (n.*1268C>T) c.4604C>T c.5377C>T (p.His1793Tyr) c.5374C>T (p.His1792Tyr) c.5329C>T (p.His1777Tyr) c.4453C>T (p.His1485Tyr) c.4222C>T (p.His1408Tyr) | |
10 | g.94298546_94298551del | CA2789048721 | PLCE1 | c.4411_4416del (p.His1471_Thr1472del) c.*1878_*1883del (n.*1878_*1883del) n.2070_2075del n.754_759del c.*619_*624del (n.*619_*624del) c.4363_4368del (p.His1455_Thr1456del) n.9543_9548del n.3008_3013del c.5203_5208del (p.His1735_Thr1736del) c.5287_5292del (p.His1763_Thr1764del) c.5335_5340del (p.His1779_Thr1780del) c.4309_4314del (p.His1437_Thr1438del) c.3890_3895del c.3451_3456del (p.His1151_Thr1152del) c.*1268_*1273del (n.*1268_*1273del) c.4604_4609del c.5377_5382del (p.His1793_Thr1794del) c.5374_5379del (p.His1792_Thr1793del) c.5329_5334del (p.His1777_Thr1778del) c.4453_4458del (p.His1485_Thr1486del) c.4222_4227del (p.His1408_Thr1409del) | |
10 | g.94298547A>C | CA377642010 | PLCE1 | c.4412A>C (p.His1471Pro) c.*1879A>C (n.*1879A>C) n.2071A>C n.755A>C c.*620A>C (n.*620A>C) c.4364A>C (p.His1455Pro) n.9544A>C n.3009A>C c.5204A>C (p.His1735Pro) c.5288A>C (p.His1763Pro) c.5336A>C (p.His1779Pro) c.4310A>C (p.His1437Pro) c.3891A>C c.3452A>C (p.His1151Pro) c.*1269A>C (n.*1269A>C) c.4605A>C c.5378A>C (p.His1793Pro) c.5375A>C (p.His1792Pro) c.5330A>C (p.His1777Pro) c.4454A>C (p.His1485Pro) c.4223A>C (p.His1408Pro) | |
10 | g.94298547A>G | CA377642011 | PLCE1 | c.4412A>G (p.His1471Arg) c.*1879A>G (n.*1879A>G) n.2071A>G n.755A>G c.*620A>G (n.*620A>G) c.4364A>G (p.His1455Arg) n.9544A>G n.3009A>G c.5204A>G (p.His1735Arg) c.5288A>G (p.His1763Arg) c.5336A>G (p.His1779Arg) c.4310A>G (p.His1437Arg) c.3891A>G c.3452A>G (p.His1151Arg) c.*1269A>G (n.*1269A>G) c.4605A>G c.5378A>G (p.His1793Arg) c.5375A>G (p.His1792Arg) c.5330A>G (p.His1777Arg) c.4454A>G (p.His1485Arg) c.4223A>G (p.His1408Arg) | |
10 | g.94298547A>T | CA377642012 | PLCE1 | c.4412A>T (p.His1471Leu) c.*1879A>T (n.*1879A>T) n.2071A>T n.755A>T c.*620A>T (n.*620A>T) c.4364A>T (p.His1455Leu) n.9544A>T n.3009A>T c.5204A>T (p.His1735Leu) c.5288A>T (p.His1763Leu) c.5336A>T (p.His1779Leu) c.4310A>T (p.His1437Leu) c.3891A>T c.3452A>T (p.His1151Leu) c.*1269A>T (n.*1269A>T) c.4605A>T c.5378A>T (p.His1793Leu) c.5375A>T (p.His1792Leu) c.5330A>T (p.His1777Leu) c.4454A>T (p.His1485Leu) c.4223A>T (p.His1408Leu) | |
10 | g.94298548C>A | CA377642013 | PLCE1 | c.4413C>A (p.His1471Gln) c.*1880C>A (n.*1880C>A) n.2072C>A n.756C>A c.*621C>A (n.*621C>A) c.4365C>A (p.His1455Gln) n.9545C>A n.3010C>A c.5205C>A (p.His1735Gln) c.5289C>A (p.His1763Gln) c.5337C>A (p.His1779Gln) c.4311C>A (p.His1437Gln) c.3892C>A c.3453C>A (p.His1151Gln) c.*1270C>A (n.*1270C>A) c.4606C>A c.5379C>A (p.His1793Gln) c.5376C>A (p.His1792Gln) c.5331C>A (p.His1777Gln) c.4455C>A (p.His1485Gln) c.4224C>A (p.His1408Gln) | |
10 | g.94298548C= | CA1928998433 | PLCE1 | c.4413C= (p.His1471=) c.*1880C= (n.*1880C=) n.2072C= n.756C= c.*621C= (n.*621C=) c.4365C= (p.His1455=) n.9545C= n.3010C= c.5205C= (p.His1735=) c.5289C= (p.His1763=) c.5337C= (p.His1779=) c.4311C= (p.His1437=) c.3892C= c.3453C= (p.His1151=) c.*1270C= (n.*1270C=) c.4606C= c.5379C= (p.His1793=) c.5376C= (p.His1792=) c.5331C= (p.His1777=) c.4455C= (p.His1485=) c.4224C= (p.His1408=) | |
10 | g.94298548C>G | CA377642014 | PLCE1 | c.4413C>G (p.His1471Gln) c.*1880C>G (n.*1880C>G) n.2072C>G n.756C>G c.*621C>G (n.*621C>G) c.4365C>G (p.His1455Gln) n.9545C>G n.3010C>G c.5205C>G (p.His1735Gln) c.5289C>G (p.His1763Gln) c.5337C>G (p.His1779Gln) c.4311C>G (p.His1437Gln) c.3892C>G c.3453C>G (p.His1151Gln) c.*1270C>G (n.*1270C>G) c.4606C>G c.5379C>G (p.His1793Gln) c.5376C>G (p.His1792Gln) c.5331C>G (p.His1777Gln) c.4455C>G (p.His1485Gln) c.4224C>G (p.His1408Gln) | |
10 | g.94298548C>T | CA470986557 | PLCE1 | c.4413C>T (p.His1471=) c.*1880C>T (n.*1880C>T) n.2072C>T n.756C>T c.*621C>T (n.*621C>T) c.4365C>T (p.His1455=) n.9545C>T n.3010C>T c.5205C>T (p.His1735=) c.5289C>T (p.His1763=) c.5337C>T (p.His1779=) c.4311C>T (p.His1437=) c.3892C>T c.3453C>T (p.His1151=) c.*1270C>T (n.*1270C>T) c.4606C>T c.5379C>T (p.His1793=) c.5376C>T (p.His1792=) c.5331C>T (p.His1777=) c.4455C>T (p.His1485=) c.4224C>T (p.His1408=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298549A>C | CA377642015 | PLCE1 | c.4414A>C (p.Thr1472Pro) c.*1881A>C (n.*1881A>C) n.2073A>C n.757A>C c.*622A>C (n.*622A>C) c.4366A>C (p.Thr1456Pro) n.9546A>C n.3011A>C c.5206A>C (p.Thr1736Pro) c.5290A>C (p.Thr1764Pro) c.5338A>C (p.Thr1780Pro) c.4312A>C (p.Thr1438Pro) c.3893A>C c.3454A>C (p.Thr1152Pro) c.*1271A>C (n.*1271A>C) c.4607A>C c.5380A>C (p.Thr1794Pro) c.5377A>C (p.Thr1793Pro) c.5332A>C (p.Thr1778Pro) c.4456A>C (p.Thr1486Pro) c.4225A>C (p.Thr1409Pro) | |
10 | g.94298549A>G | CA377642016 | PLCE1 | c.4414A>G (p.Thr1472Ala) c.*1881A>G (n.*1881A>G) n.2073A>G n.757A>G c.*622A>G (n.*622A>G) c.4366A>G (p.Thr1456Ala) n.9546A>G n.3011A>G c.5206A>G (p.Thr1736Ala) c.5290A>G (p.Thr1764Ala) c.5338A>G (p.Thr1780Ala) c.4312A>G (p.Thr1438Ala) c.3893A>G c.3454A>G (p.Thr1152Ala) c.*1271A>G (n.*1271A>G) c.4607A>G c.5380A>G (p.Thr1794Ala) c.5377A>G (p.Thr1793Ala) c.5332A>G (p.Thr1778Ala) c.4456A>G (p.Thr1486Ala) c.4225A>G (p.Thr1409Ala) | |
10 | g.94298549A>T | CA377642017 | PLCE1 | c.4414A>T (p.Thr1472Ser) c.*1881A>T (n.*1881A>T) n.2073A>T n.757A>T c.*622A>T (n.*622A>T) c.4366A>T (p.Thr1456Ser) n.9546A>T n.3011A>T c.5206A>T (p.Thr1736Ser) c.5290A>T (p.Thr1764Ser) c.5338A>T (p.Thr1780Ser) c.4312A>T (p.Thr1438Ser) c.3893A>T c.3454A>T (p.Thr1152Ser) c.*1271A>T (n.*1271A>T) c.4607A>T c.5380A>T (p.Thr1794Ser) c.5377A>T (p.Thr1793Ser) c.5332A>T (p.Thr1778Ser) c.4456A>T (p.Thr1486Ser) c.4225A>T (p.Thr1409Ser) | |
10 | g.94298550C>A | CA377642018 | PLCE1 | c.4415C>A (p.Thr1472Asn) c.*1882C>A (n.*1882C>A) n.2074C>A n.758C>A c.*623C>A (n.*623C>A) c.4367C>A (p.Thr1456Asn) n.9547C>A n.3012C>A c.5207C>A (p.Thr1736Asn) c.5291C>A (p.Thr1764Asn) c.5339C>A (p.Thr1780Asn) c.4313C>A (p.Thr1438Asn) c.3894C>A c.3455C>A (p.Thr1152Asn) c.*1272C>A (n.*1272C>A) c.4608C>A c.5381C>A (p.Thr1794Asn) c.5378C>A (p.Thr1793Asn) c.5333C>A (p.Thr1778Asn) c.4457C>A (p.Thr1486Asn) c.4226C>A (p.Thr1409Asn) | dbSNP |
10 | g.94298550C= | CA1928998434 | PLCE1 | c.4415C= (p.Thr1472=) c.*1882C= (n.*1882C=) n.2074C= n.758C= c.*623C= (n.*623C=) c.4367C= (p.Thr1456=) n.9547C= n.3012C= c.5207C= (p.Thr1736=) c.5291C= (p.Thr1764=) c.5339C= (p.Thr1780=) c.4313C= (p.Thr1438=) c.3894C= c.3455C= (p.Thr1152=) c.*1272C= (n.*1272C=) c.4608C= c.5381C= (p.Thr1794=) c.5378C= (p.Thr1793=) c.5333C= (p.Thr1778=) c.4457C= (p.Thr1486=) c.4226C= (p.Thr1409=) | |
10 | g.94298550C>G | CA377642019 | PLCE1 | c.4415C>G (p.Thr1472Ser) c.*1882C>G (n.*1882C>G) n.2074C>G n.758C>G c.*623C>G (n.*623C>G) c.4367C>G (p.Thr1456Ser) n.9547C>G n.3012C>G c.5207C>G (p.Thr1736Ser) c.5291C>G (p.Thr1764Ser) c.5339C>G (p.Thr1780Ser) c.4313C>G (p.Thr1438Ser) c.3894C>G c.3455C>G (p.Thr1152Ser) c.*1272C>G (n.*1272C>G) c.4608C>G c.5381C>G (p.Thr1794Ser) c.5378C>G (p.Thr1793Ser) c.5333C>G (p.Thr1778Ser) c.4457C>G (p.Thr1486Ser) c.4226C>G (p.Thr1409Ser) | |
10 | g.94298550C>T | CA5613340 | PLCE1 | c.4415C>T (p.Thr1472Ile) c.*1882C>T (n.*1882C>T) n.2074C>T n.758C>T c.*623C>T (n.*623C>T) c.4367C>T (p.Thr1456Ile) n.9547C>T n.3012C>T c.5207C>T (p.Thr1736Ile) c.5291C>T (p.Thr1764Ile) c.5339C>T (p.Thr1780Ile) c.4313C>T (p.Thr1438Ile) c.3894C>T c.3455C>T (p.Thr1152Ile) c.*1272C>T (n.*1272C>T) c.4608C>T c.5381C>T (p.Thr1794Ile) c.5378C>T (p.Thr1793Ile) c.5333C>T (p.Thr1778Ile) c.4457C>T (p.Thr1486Ile) c.4226C>T (p.Thr1409Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298551C>A | CA470986559 | PLCE1 | c.4416C>A (p.Thr1472=) c.*1883C>A (n.*1883C>A) n.2075C>A n.759C>A c.*624C>A (n.*624C>A) c.4368C>A (p.Thr1456=) n.9548C>A n.3013C>A c.5208C>A (p.Thr1736=) c.5292C>A (p.Thr1764=) c.5340C>A (p.Thr1780=) c.4314C>A (p.Thr1438=) c.3895C>A c.3456C>A (p.Thr1152=) c.*1273C>A (n.*1273C>A) c.4609C>A c.5382C>A (p.Thr1794=) c.5379C>A (p.Thr1793=) c.5334C>A (p.Thr1778=) c.4458C>A (p.Thr1486=) c.4227C>A (p.Thr1409=) | dbSNP |
10 | g.94298551C= | CA1928998435 | PLCE1 | c.4416C= (p.Thr1472=) c.*1883C= (n.*1883C=) n.2075C= n.759C= c.*624C= (n.*624C=) c.4368C= (p.Thr1456=) n.9548C= n.3013C= c.5208C= (p.Thr1736=) c.5292C= (p.Thr1764=) c.5340C= (p.Thr1780=) c.4314C= (p.Thr1438=) c.3895C= c.3456C= (p.Thr1152=) c.*1273C= (n.*1273C=) c.4609C= c.5382C= (p.Thr1794=) c.5379C= (p.Thr1793=) c.5334C= (p.Thr1778=) c.4458C= (p.Thr1486=) c.4227C= (p.Thr1409=) | |
10 | g.94298551C>G | CA470986560 | PLCE1 | c.4416C>G (p.Thr1472=) c.*1883C>G (n.*1883C>G) n.2075C>G n.759C>G c.*624C>G (n.*624C>G) c.4368C>G (p.Thr1456=) n.9548C>G n.3013C>G c.5208C>G (p.Thr1736=) c.5292C>G (p.Thr1764=) c.5340C>G (p.Thr1780=) c.4314C>G (p.Thr1438=) c.3895C>G c.3456C>G (p.Thr1152=) c.*1273C>G (n.*1273C>G) c.4609C>G c.5382C>G (p.Thr1794=) c.5379C>G (p.Thr1793=) c.5334C>G (p.Thr1778=) c.4458C>G (p.Thr1486=) c.4227C>G (p.Thr1409=) | |
10 | g.94298551C>T | CA5613341 | PLCE1 | c.4416C>T (p.Thr1472=) c.*1883C>T (n.*1883C>T) n.2075C>T n.759C>T c.*624C>T (n.*624C>T) c.4368C>T (p.Thr1456=) n.9548C>T n.3013C>T c.5208C>T (p.Thr1736=) c.5292C>T (p.Thr1764=) c.5340C>T (p.Thr1780=) c.4314C>T (p.Thr1438=) c.3895C>T c.3456C>T (p.Thr1152=) c.*1273C>T (n.*1273C>T) c.4609C>T c.5382C>T (p.Thr1794=) c.5379C>T (p.Thr1793=) c.5334C>T (p.Thr1778=) c.4458C>T (p.Thr1486=) c.4227C>T (p.Thr1409=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298552G>A | CA5613342 | PLCE1 | c.4417G>A (p.Ala1473Thr) c.*1884G>A (n.*1884G>A) n.2076G>A n.760G>A c.*625G>A (n.*625G>A) c.4369G>A (p.Ala1457Thr) n.9549G>A n.3014G>A c.5209G>A (p.Ala1737Thr) c.5293G>A (p.Ala1765Thr) c.5341G>A (p.Ala1781Thr) c.4315G>A (p.Ala1439Thr) c.3896G>A c.3457G>A (p.Ala1153Thr) c.*1274G>A (n.*1274G>A) c.4610G>A c.5383G>A (p.Ala1795Thr) c.5380G>A (p.Ala1794Thr) c.5335G>A (p.Ala1779Thr) c.4459G>A (p.Ala1487Thr) c.4228G>A (p.Ala1410Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298552G>C | CA377642020 | PLCE1 | c.4417G>C (p.Ala1473Pro) c.*1884G>C (n.*1884G>C) n.2076G>C n.760G>C c.*625G>C (n.*625G>C) c.4369G>C (p.Ala1457Pro) n.9549G>C n.3014G>C c.5209G>C (p.Ala1737Pro) c.5293G>C (p.Ala1765Pro) c.5341G>C (p.Ala1781Pro) c.4315G>C (p.Ala1439Pro) c.3896G>C c.3457G>C (p.Ala1153Pro) c.*1274G>C (n.*1274G>C) c.4610G>C c.5383G>C (p.Ala1795Pro) c.5380G>C (p.Ala1794Pro) c.5335G>C (p.Ala1779Pro) c.4459G>C (p.Ala1487Pro) c.4228G>C (p.Ala1410Pro) | |
10 | g.94298552G= | CA1928998436 | PLCE1 | c.4417G= (p.Ala1473=) c.*1884G= (n.*1884G=) n.2076G= n.760G= c.*625G= (n.*625G=) c.4369G= (p.Ala1457=) n.9549G= n.3014G= c.5209G= (p.Ala1737=) c.5293G= (p.Ala1765=) c.5341G= (p.Ala1781=) c.4315G= (p.Ala1439=) c.3896G= c.3457G= (p.Ala1153=) c.*1274G= (n.*1274G=) c.4610G= c.5383G= (p.Ala1795=) c.5380G= (p.Ala1794=) c.5335G= (p.Ala1779=) c.4459G= (p.Ala1487=) c.4228G= (p.Ala1410=) | |
10 | g.94298552G>T | CA377642021 | PLCE1 | c.4417G>T (p.Ala1473Ser) c.*1884G>T (n.*1884G>T) n.2076G>T n.760G>T c.*625G>T (n.*625G>T) c.4369G>T (p.Ala1457Ser) n.9549G>T n.3014G>T c.5209G>T (p.Ala1737Ser) c.5293G>T (p.Ala1765Ser) c.5341G>T (p.Ala1781Ser) c.4315G>T (p.Ala1439Ser) c.3896G>T c.3457G>T (p.Ala1153Ser) c.*1274G>T (n.*1274G>T) c.4610G>T c.5383G>T (p.Ala1795Ser) c.5380G>T (p.Ala1794Ser) c.5335G>T (p.Ala1779Ser) c.4459G>T (p.Ala1487Ser) c.4228G>T (p.Ala1410Ser) | dbSNP gnomAD v4 |
10 | g.94298553C>A | CA377642022 | PLCE1 | c.4418C>A (p.Ala1473Asp) c.*1885C>A (n.*1885C>A) n.2077C>A n.761C>A c.*626C>A (n.*626C>A) c.4370C>A (p.Ala1457Asp) n.9550C>A n.3015C>A c.5210C>A (p.Ala1737Asp) c.5294C>A (p.Ala1765Asp) c.5342C>A (p.Ala1781Asp) c.4316C>A (p.Ala1439Asp) c.3897C>A c.3458C>A (p.Ala1153Asp) c.*1275C>A (n.*1275C>A) c.4611C>A c.5384C>A (p.Ala1795Asp) c.5381C>A (p.Ala1794Asp) c.5336C>A (p.Ala1779Asp) c.4460C>A (p.Ala1487Asp) c.4229C>A (p.Ala1410Asp) | |
10 | g.94298553C= | CA1928998437 | PLCE1 | c.4418C= (p.Ala1473=) c.*1885C= (n.*1885C=) n.2077C= n.761C= c.*626C= (n.*626C=) c.4370C= (p.Ala1457=) n.9550C= n.3015C= c.5210C= (p.Ala1737=) c.5294C= (p.Ala1765=) c.5342C= (p.Ala1781=) c.4316C= (p.Ala1439=) c.3897C= c.3458C= (p.Ala1153=) c.*1275C= (n.*1275C=) c.4611C= c.5384C= (p.Ala1795=) c.5381C= (p.Ala1794=) c.5336C= (p.Ala1779=) c.4460C= (p.Ala1487=) c.4229C= (p.Ala1410=) | |
10 | g.94298553C>G | CA377642023 | PLCE1 | c.4418C>G (p.Ala1473Gly) c.*1885C>G (n.*1885C>G) n.2077C>G n.761C>G c.*626C>G (n.*626C>G) c.4370C>G (p.Ala1457Gly) n.9550C>G n.3015C>G c.5210C>G (p.Ala1737Gly) c.5294C>G (p.Ala1765Gly) c.5342C>G (p.Ala1781Gly) c.4316C>G (p.Ala1439Gly) c.3897C>G c.3458C>G (p.Ala1153Gly) c.*1275C>G (n.*1275C>G) c.4611C>G c.5384C>G (p.Ala1795Gly) c.5381C>G (p.Ala1794Gly) c.5336C>G (p.Ala1779Gly) c.4460C>G (p.Ala1487Gly) c.4229C>G (p.Ala1410Gly) | |
10 | g.94298553C>T | CA377642024 | PLCE1 | c.4418C>T (p.Ala1473Val) c.*1885C>T (n.*1885C>T) n.2077C>T n.761C>T c.*626C>T (n.*626C>T) c.4370C>T (p.Ala1457Val) n.9550C>T n.3015C>T c.5210C>T (p.Ala1737Val) c.5294C>T (p.Ala1765Val) c.5342C>T (p.Ala1781Val) c.4316C>T (p.Ala1439Val) c.3897C>T c.3458C>T (p.Ala1153Val) c.*1275C>T (n.*1275C>T) c.4611C>T c.5384C>T (p.Ala1795Val) c.5381C>T (p.Ala1794Val) c.5336C>T (p.Ala1779Val) c.4460C>T (p.Ala1487Val) c.4229C>T (p.Ala1410Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298554C>A | CA470986561 | PLCE1 | c.4419C>A (p.Ala1473=) c.*1886C>A (n.*1886C>A) n.2078C>A n.762C>A c.*627C>A (n.*627C>A) c.4371C>A (p.Ala1457=) n.9551C>A n.3016C>A c.5211C>A (p.Ala1737=) c.5295C>A (p.Ala1765=) c.5343C>A (p.Ala1781=) c.4317C>A (p.Ala1439=) c.3898C>A c.3459C>A (p.Ala1153=) c.*1276C>A (n.*1276C>A) c.4612C>A c.5385C>A (p.Ala1795=) c.5382C>A (p.Ala1794=) c.5337C>A (p.Ala1779=) c.4461C>A (p.Ala1487=) c.4230C>A (p.Ala1410=) | |
10 | g.94298554C>G | CA470986562 | PLCE1 | c.4419C>G (p.Ala1473=) c.*1886C>G (n.*1886C>G) n.2078C>G n.762C>G c.*627C>G (n.*627C>G) c.4371C>G (p.Ala1457=) n.9551C>G n.3016C>G c.5211C>G (p.Ala1737=) c.5295C>G (p.Ala1765=) c.5343C>G (p.Ala1781=) c.4317C>G (p.Ala1439=) c.3898C>G c.3459C>G (p.Ala1153=) c.*1276C>G (n.*1276C>G) c.4612C>G c.5385C>G (p.Ala1795=) c.5382C>G (p.Ala1794=) c.5337C>G (p.Ala1779=) c.4461C>G (p.Ala1487=) c.4230C>G (p.Ala1410=) | |
10 | g.94298554C>T | CA470986563 | PLCE1 | c.4419C>T (p.Ala1473=) c.*1886C>T (n.*1886C>T) n.2078C>T n.762C>T c.*627C>T (n.*627C>T) c.4371C>T (p.Ala1457=) n.9551C>T n.3016C>T c.5211C>T (p.Ala1737=) c.5295C>T (p.Ala1765=) c.5343C>T (p.Ala1781=) c.4317C>T (p.Ala1439=) c.3898C>T c.3459C>T (p.Ala1153=) c.*1276C>T (n.*1276C>T) c.4612C>T c.5385C>T (p.Ala1795=) c.5382C>T (p.Ala1794=) c.5337C>T (p.Ala1779=) c.4461C>T (p.Ala1487=) c.4230C>T (p.Ala1410=) | |
10 | g.94298555T>A | CA377642025 | PLCE1 | c.4420T>A (p.Cys1474Ser) c.*1887T>A (n.*1887T>A) n.2079T>A n.763T>A c.*628T>A (n.*628T>A) c.4372T>A (p.Cys1458Ser) n.9552T>A n.3017T>A c.5212T>A (p.Cys1738Ser) c.5296T>A (p.Cys1766Ser) c.5344T>A (p.Cys1782Ser) c.4318T>A (p.Cys1440Ser) c.3899T>A c.3460T>A (p.Cys1154Ser) c.*1277T>A (n.*1277T>A) c.4613T>A c.5386T>A (p.Cys1796Ser) c.5383T>A (p.Cys1795Ser) c.5338T>A (p.Cys1780Ser) c.4462T>A (p.Cys1488Ser) c.4231T>A (p.Cys1411Ser) | |
10 | g.94298555T>C | CA377642027 | PLCE1 | c.4420T>C (p.Cys1474Arg) c.*1887T>C (n.*1887T>C) n.2079T>C n.763T>C c.*628T>C (n.*628T>C) c.4372T>C (p.Cys1458Arg) n.9552T>C n.3017T>C c.5212T>C (p.Cys1738Arg) c.5296T>C (p.Cys1766Arg) c.5344T>C (p.Cys1782Arg) c.4318T>C (p.Cys1440Arg) c.3899T>C c.3460T>C (p.Cys1154Arg) c.*1277T>C (n.*1277T>C) c.4613T>C c.5386T>C (p.Cys1796Arg) c.5383T>C (p.Cys1795Arg) c.5338T>C (p.Cys1780Arg) c.4462T>C (p.Cys1488Arg) c.4231T>C (p.Cys1411Arg) | |
10 | g.94298555T>G | CA377642026 | PLCE1 | c.4420T>G (p.Cys1474Gly) c.*1887T>G (n.*1887T>G) n.2079T>G n.763T>G c.*628T>G (n.*628T>G) c.4372T>G (p.Cys1458Gly) n.9552T>G n.3017T>G c.5212T>G (p.Cys1738Gly) c.5296T>G (p.Cys1766Gly) c.5344T>G (p.Cys1782Gly) c.4318T>G (p.Cys1440Gly) c.3899T>G c.3460T>G (p.Cys1154Gly) c.*1277T>G (n.*1277T>G) c.4613T>G c.5386T>G (p.Cys1796Gly) c.5383T>G (p.Cys1795Gly) c.5338T>G (p.Cys1780Gly) c.4462T>G (p.Cys1488Gly) c.4231T>G (p.Cys1411Gly) | |
10 | g.94298556G>A | CA377642028 | PLCE1 | c.4421G>A (p.Cys1474Tyr) c.*1888G>A (n.*1888G>A) n.2080G>A n.764G>A c.*629G>A (n.*629G>A) c.4373G>A (p.Cys1458Tyr) n.9553G>A n.3018G>A c.5213G>A (p.Cys1738Tyr) c.5297G>A (p.Cys1766Tyr) c.5345G>A (p.Cys1782Tyr) c.4319G>A (p.Cys1440Tyr) c.3900G>A c.3461G>A (p.Cys1154Tyr) c.*1278G>A (n.*1278G>A) c.4614G>A c.5387G>A (p.Cys1796Tyr) c.5384G>A (p.Cys1795Tyr) c.5339G>A (p.Cys1780Tyr) c.4463G>A (p.Cys1488Tyr) c.4232G>A (p.Cys1411Tyr) | gnomAD v4 |
10 | g.94298556G>C | CA377642029 | PLCE1 | c.4421G>C (p.Cys1474Ser) c.*1888G>C (n.*1888G>C) n.2080G>C n.764G>C c.*629G>C (n.*629G>C) c.4373G>C (p.Cys1458Ser) n.9553G>C n.3018G>C c.5213G>C (p.Cys1738Ser) c.5297G>C (p.Cys1766Ser) c.5345G>C (p.Cys1782Ser) c.4319G>C (p.Cys1440Ser) c.3900G>C c.3461G>C (p.Cys1154Ser) c.*1278G>C (n.*1278G>C) c.4614G>C c.5387G>C (p.Cys1796Ser) c.5384G>C (p.Cys1795Ser) c.5339G>C (p.Cys1780Ser) c.4463G>C (p.Cys1488Ser) c.4232G>C (p.Cys1411Ser) | |
10 | g.94298556G>T | CA377642030 | PLCE1 | c.4421G>T (p.Cys1474Phe) c.*1888G>T (n.*1888G>T) n.2080G>T n.764G>T c.*629G>T (n.*629G>T) c.4373G>T (p.Cys1458Phe) n.9553G>T n.3018G>T c.5213G>T (p.Cys1738Phe) c.5297G>T (p.Cys1766Phe) c.5345G>T (p.Cys1782Phe) c.4319G>T (p.Cys1440Phe) c.3900G>T c.3461G>T (p.Cys1154Phe) c.*1278G>T (n.*1278G>T) c.4614G>T c.5387G>T (p.Cys1796Phe) c.5384G>T (p.Cys1795Phe) c.5339G>T (p.Cys1780Phe) c.4463G>T (p.Cys1488Phe) c.4232G>T (p.Cys1411Phe) | |
10 | g.94298556_94298557insGG | CA2789048722 | PLCE1 | c.4421_4422insGG (p.Cys1474TrpfsTer5) c.*1888_*1889insGG (n.*1888_*1889insGG) n.2080_2081insGG n.764_765insGG c.*629_*630insGG (n.*629_*630insGG) c.4373_4374insGG (p.Cys1458TrpfsTer5) n.9553_9554insGG n.3018_3019insGG c.5213_5214insGG (p.Cys1738TrpfsTer5) c.5297_5298insGG (p.Cys1766TrpfsTer5) c.5345_5346insGG (p.Cys1782TrpfsTer5) c.4319_4320insGG (p.Cys1440TrpfsTer5) c.3900_3901insGG c.3461_3462insGG (p.Cys1154TrpfsTer5) c.*1278_*1279insGG (n.*1278_*1279insGG) c.4614_4615insGG c.5387_5388insGG (p.Cys1796TrpfsTer5) c.5384_5385insGG (p.Cys1795TrpfsTer5) c.5339_5340insGG (p.Cys1780TrpfsTer5) c.4463_4464insGG (p.Cys1488TrpfsTer5) c.4232_4233insGG (p.Cys1411TrpfsTer5) | |
10 | g.94298557T>A | CA377642031 | PLCE1 | c.4422T>A (p.Cys1474Ter) c.*1889T>A (n.*1889T>A) n.2081T>A n.765T>A c.*630T>A (n.*630T>A) c.4374T>A (p.Cys1458Ter) n.9554T>A n.3019T>A c.5214T>A (p.Cys1738Ter) c.5298T>A (p.Cys1766Ter) c.5346T>A (p.Cys1782Ter) c.4320T>A (p.Cys1440Ter) c.3901T>A c.3462T>A (p.Cys1154Ter) c.*1279T>A (n.*1279T>A) c.4615T>A c.5388T>A (p.Cys1796Ter) c.5385T>A (p.Cys1795Ter) c.5340T>A (p.Cys1780Ter) c.4464T>A (p.Cys1488Ter) c.4233T>A (p.Cys1411Ter) | |
10 | g.94298557T>C | CA470986564 | PLCE1 | c.4422T>C (p.Cys1474=) c.*1889T>C (n.*1889T>C) n.2081T>C n.765T>C c.*630T>C (n.*630T>C) c.4374T>C (p.Cys1458=) n.9554T>C n.3019T>C c.5214T>C (p.Cys1738=) c.5298T>C (p.Cys1766=) c.5346T>C (p.Cys1782=) c.4320T>C (p.Cys1440=) c.3901T>C c.3462T>C (p.Cys1154=) c.*1279T>C (n.*1279T>C) c.4615T>C c.5388T>C (p.Cys1796=) c.5385T>C (p.Cys1795=) c.5340T>C (p.Cys1780=) c.4464T>C (p.Cys1488=) c.4233T>C (p.Cys1411=) | |
10 | g.94298557T>G | CA377642032 | PLCE1 | c.4422T>G (p.Cys1474Trp) c.*1889T>G (n.*1889T>G) n.2081T>G n.765T>G c.*630T>G (n.*630T>G) c.4374T>G (p.Cys1458Trp) n.9554T>G n.3019T>G c.5214T>G (p.Cys1738Trp) c.5298T>G (p.Cys1766Trp) c.5346T>G (p.Cys1782Trp) c.4320T>G (p.Cys1440Trp) c.3901T>G c.3462T>G (p.Cys1154Trp) c.*1279T>G (n.*1279T>G) c.4615T>G c.5388T>G (p.Cys1796Trp) c.5385T>G (p.Cys1795Trp) c.5340T>G (p.Cys1780Trp) c.4464T>G (p.Cys1488Trp) c.4233T>G (p.Cys1411Trp) | |
10 | g.94298558C>A | CA377642033 | PLCE1 | c.4423C>A (p.Gln1475Lys) c.*1890C>A (n.*1890C>A) n.2082C>A n.766C>A c.*631C>A (n.*631C>A) c.4375C>A (p.Gln1459Lys) n.9555C>A n.3020C>A c.5215C>A (p.Gln1739Lys) c.5299C>A (p.Gln1767Lys) c.5347C>A (p.Gln1783Lys) c.4321C>A (p.Gln1441Lys) c.3902C>A c.3463C>A (p.Gln1155Lys) c.*1280C>A (n.*1280C>A) c.4616C>A c.5389C>A (p.Gln1797Lys) c.5386C>A (p.Gln1796Lys) c.5341C>A (p.Gln1781Lys) c.4465C>A (p.Gln1489Lys) c.4234C>A (p.Gln1412Lys) | |
10 | g.94298558C>G | CA377642034 | PLCE1 | c.4423C>G (p.Gln1475Glu) c.*1890C>G (n.*1890C>G) n.2082C>G n.766C>G c.*631C>G (n.*631C>G) c.4375C>G (p.Gln1459Glu) n.9555C>G n.3020C>G c.5215C>G (p.Gln1739Glu) c.5299C>G (p.Gln1767Glu) c.5347C>G (p.Gln1783Glu) c.4321C>G (p.Gln1441Glu) c.3902C>G c.3463C>G (p.Gln1155Glu) c.*1280C>G (n.*1280C>G) c.4616C>G c.5389C>G (p.Gln1797Glu) c.5386C>G (p.Gln1796Glu) c.5341C>G (p.Gln1781Glu) c.4465C>G (p.Gln1489Glu) c.4234C>G (p.Gln1412Glu) | gnomAD v4 |
10 | g.94298558C>T | CA377642035 | PLCE1 | c.4423C>T (p.Gln1475Ter) c.*1890C>T (n.*1890C>T) n.2082C>T n.766C>T c.*631C>T (n.*631C>T) c.4375C>T (p.Gln1459Ter) n.9555C>T n.3020C>T c.5215C>T (p.Gln1739Ter) c.5299C>T (p.Gln1767Ter) c.5347C>T (p.Gln1783Ter) c.4321C>T (p.Gln1441Ter) c.3902C>T c.3463C>T (p.Gln1155Ter) c.*1280C>T (n.*1280C>T) c.4616C>T c.5389C>T (p.Gln1797Ter) c.5386C>T (p.Gln1796Ter) c.5341C>T (p.Gln1781Ter) c.4465C>T (p.Gln1489Ter) c.4234C>T (p.Gln1412Ter) | |
10 | g.94298559A= | CA1928998438 | PLCE1 | c.4424A= (p.Gln1475=) c.*1891A= (n.*1891A=) n.2083A= n.767A= c.*632A= (n.*632A=) c.4376A= (p.Gln1459=) n.9556A= n.3021A= c.5216A= (p.Gln1739=) c.5300A= (p.Gln1767=) c.5348A= (p.Gln1783=) c.4322A= (p.Gln1441=) c.3903A= c.3464A= (p.Gln1155=) c.*1281A= (n.*1281A=) c.4617A= c.5390A= (p.Gln1797=) c.5387A= (p.Gln1796=) c.5342A= (p.Gln1781=) c.4466A= (p.Gln1489=) c.4235A= (p.Gln1412=) | |
10 | g.94298559A>C | CA377642036 | PLCE1 | c.4424A>C (p.Gln1475Pro) c.*1891A>C (n.*1891A>C) n.2083A>C n.767A>C c.*632A>C (n.*632A>C) c.4376A>C (p.Gln1459Pro) n.9556A>C n.3021A>C c.5216A>C (p.Gln1739Pro) c.5300A>C (p.Gln1767Pro) c.5348A>C (p.Gln1783Pro) c.4322A>C (p.Gln1441Pro) c.3903A>C c.3464A>C (p.Gln1155Pro) c.*1281A>C (n.*1281A>C) c.4617A>C c.5390A>C (p.Gln1797Pro) c.5387A>C (p.Gln1796Pro) c.5342A>C (p.Gln1781Pro) c.4466A>C (p.Gln1489Pro) c.4235A>C (p.Gln1412Pro) | |
10 | g.94298559A>G | CA5613343 | PLCE1 | c.4424A>G (p.Gln1475Arg) c.*1891A>G (n.*1891A>G) n.2083A>G n.767A>G c.*632A>G (n.*632A>G) c.4376A>G (p.Gln1459Arg) n.9556A>G n.3021A>G c.5216A>G (p.Gln1739Arg) c.5300A>G (p.Gln1767Arg) c.5348A>G (p.Gln1783Arg) c.4322A>G (p.Gln1441Arg) c.3903A>G c.3464A>G (p.Gln1155Arg) c.*1281A>G (n.*1281A>G) c.4617A>G c.5390A>G (p.Gln1797Arg) c.5387A>G (p.Gln1796Arg) c.5342A>G (p.Gln1781Arg) c.4466A>G (p.Gln1489Arg) c.4235A>G (p.Gln1412Arg) | dbSNP ExAC gnomAD v2 |
10 | g.94298559A>T | CA377642037 | PLCE1 | c.4424A>T (p.Gln1475Leu) c.*1891A>T (n.*1891A>T) n.2083A>T n.767A>T c.*632A>T (n.*632A>T) c.4376A>T (p.Gln1459Leu) n.9556A>T n.3021A>T c.5216A>T (p.Gln1739Leu) c.5300A>T (p.Gln1767Leu) c.5348A>T (p.Gln1783Leu) c.4322A>T (p.Gln1441Leu) c.3903A>T c.3464A>T (p.Gln1155Leu) c.*1281A>T (n.*1281A>T) c.4617A>T c.5390A>T (p.Gln1797Leu) c.5387A>T (p.Gln1796Leu) c.5342A>T (p.Gln1781Leu) c.4466A>T (p.Gln1489Leu) c.4235A>T (p.Gln1412Leu) | |
10 | g.94298560G>A | CA470986567 | PLCE1 | c.4425G>A (p.Gln1475=) c.*1892G>A (n.*1892G>A) n.2084G>A n.768G>A c.*633G>A (n.*633G>A) c.4377G>A (p.Gln1459=) n.9557G>A n.3022G>A c.5217G>A (p.Gln1739=) c.5301G>A (p.Gln1767=) c.5349G>A (p.Gln1783=) c.4323G>A (p.Gln1441=) c.3904G>A c.3465G>A (p.Gln1155=) c.*1282G>A (n.*1282G>A) c.4618G>A c.5391G>A (p.Gln1797=) c.5388G>A (p.Gln1796=) c.5343G>A (p.Gln1781=) c.4467G>A (p.Gln1489=) c.4236G>A (p.Gln1412=) | dbSNP |
10 | g.94298560G>C | CA377642038 | PLCE1 | c.4425G>C (p.Gln1475His) c.*1892G>C (n.*1892G>C) n.2084G>C n.768G>C c.*633G>C (n.*633G>C) c.4377G>C (p.Gln1459His) n.9557G>C n.3022G>C c.5217G>C (p.Gln1739His) c.5301G>C (p.Gln1767His) c.5349G>C (p.Gln1783His) c.4323G>C (p.Gln1441His) c.3904G>C c.3465G>C (p.Gln1155His) c.*1282G>C (n.*1282G>C) c.4618G>C c.5391G>C (p.Gln1797His) c.5388G>C (p.Gln1796His) c.5343G>C (p.Gln1781His) c.4467G>C (p.Gln1489His) c.4236G>C (p.Gln1412His) | |
10 | g.94298560G= | CA1928998439 | PLCE1 | c.4425G= (p.Gln1475=) c.*1892G= (n.*1892G=) n.2084G= n.768G= c.*633G= (n.*633G=) c.4377G= (p.Gln1459=) n.9557G= n.3022G= c.5217G= (p.Gln1739=) c.5301G= (p.Gln1767=) c.5349G= (p.Gln1783=) c.4323G= (p.Gln1441=) c.3904G= c.3465G= (p.Gln1155=) c.*1282G= (n.*1282G=) c.4618G= c.5391G= (p.Gln1797=) c.5388G= (p.Gln1796=) c.5343G= (p.Gln1781=) c.4467G= (p.Gln1489=) c.4236G= (p.Gln1412=) | |
10 | g.94298560G>T | CA377642039 | PLCE1 | c.4425G>T (p.Gln1475His) c.*1892G>T (n.*1892G>T) n.2084G>T n.768G>T c.*633G>T (n.*633G>T) c.4377G>T (p.Gln1459His) n.9557G>T n.3022G>T c.5217G>T (p.Gln1739His) c.5301G>T (p.Gln1767His) c.5349G>T (p.Gln1783His) c.4323G>T (p.Gln1441His) c.3904G>T c.3465G>T (p.Gln1155His) c.*1282G>T (n.*1282G>T) c.4618G>T c.5391G>T (p.Gln1797His) c.5388G>T (p.Gln1796His) c.5343G>T (p.Gln1781His) c.4467G>T (p.Gln1489His) c.4236G>T (p.Gln1412His) | gnomAD v4 |
10 | g.94298561C>A | CA377642041 | PLCE1 | c.4426C>A (p.Leu1476Met) c.*1893C>A (n.*1893C>A) n.2085C>A n.769C>A c.*634C>A (n.*634C>A) c.4378C>A (p.Leu1460Met) n.9558C>A n.3023C>A c.5218C>A (p.Leu1740Met) c.5302C>A (p.Leu1768Met) c.5350C>A (p.Leu1784Met) c.4324C>A (p.Leu1442Met) c.3905C>A c.3466C>A (p.Leu1156Met) c.*1283C>A (n.*1283C>A) c.4619C>A c.5392C>A (p.Leu1798Met) c.5389C>A (p.Leu1797Met) c.5344C>A (p.Leu1782Met) c.4468C>A (p.Leu1490Met) c.4237C>A (p.Leu1413Met) | |
10 | g.94298561C>G | CA377642040 | PLCE1 | c.4426C>G (p.Leu1476Val) c.*1893C>G (n.*1893C>G) n.2085C>G n.769C>G c.*634C>G (n.*634C>G) c.4378C>G (p.Leu1460Val) n.9558C>G n.3023C>G c.5218C>G (p.Leu1740Val) c.5302C>G (p.Leu1768Val) c.5350C>G (p.Leu1784Val) c.4324C>G (p.Leu1442Val) c.3905C>G c.3466C>G (p.Leu1156Val) c.*1283C>G (n.*1283C>G) c.4619C>G c.5392C>G (p.Leu1798Val) c.5389C>G (p.Leu1797Val) c.5344C>G (p.Leu1782Val) c.4468C>G (p.Leu1490Val) c.4237C>G (p.Leu1413Val) | |
10 | g.94298561C>T | CA470986569 | PLCE1 | c.4426C>T (p.Leu1476=) c.*1893C>T (n.*1893C>T) n.2085C>T n.769C>T c.*634C>T (n.*634C>T) c.4378C>T (p.Leu1460=) n.9558C>T n.3023C>T c.5218C>T (p.Leu1740=) c.5302C>T (p.Leu1768=) c.5350C>T (p.Leu1784=) c.4324C>T (p.Leu1442=) c.3905C>T c.3466C>T (p.Leu1156=) c.*1283C>T (n.*1283C>T) c.4619C>T c.5392C>T (p.Leu1798=) c.5389C>T (p.Leu1797=) c.5344C>T (p.Leu1782=) c.4468C>T (p.Leu1490=) c.4237C>T (p.Leu1413=) | |
10 | g.94298562T>A | CA377642042 | PLCE1 | c.4427T>A (p.Leu1476Gln) c.*1894T>A (n.*1894T>A) n.2086T>A n.770T>A c.*635T>A (n.*635T>A) c.4379T>A (p.Leu1460Gln) n.9559T>A n.3024T>A c.5219T>A (p.Leu1740Gln) c.5303T>A (p.Leu1768Gln) c.5351T>A (p.Leu1784Gln) c.4325T>A (p.Leu1442Gln) c.3906T>A c.3467T>A (p.Leu1156Gln) c.*1284T>A (n.*1284T>A) c.4620T>A c.5393T>A (p.Leu1798Gln) c.5390T>A (p.Leu1797Gln) c.5345T>A (p.Leu1782Gln) c.4469T>A (p.Leu1490Gln) c.4238T>A (p.Leu1413Gln) | |
10 | g.94298562T>C | CA377642043 | PLCE1 | c.4427T>C (p.Leu1476Pro) c.*1894T>C (n.*1894T>C) n.2086T>C n.770T>C c.*635T>C (n.*635T>C) c.4379T>C (p.Leu1460Pro) n.9559T>C n.3024T>C c.5219T>C (p.Leu1740Pro) c.5303T>C (p.Leu1768Pro) c.5351T>C (p.Leu1784Pro) c.4325T>C (p.Leu1442Pro) c.3906T>C c.3467T>C (p.Leu1156Pro) c.*1284T>C (n.*1284T>C) c.4620T>C c.5393T>C (p.Leu1798Pro) c.5390T>C (p.Leu1797Pro) c.5345T>C (p.Leu1782Pro) c.4469T>C (p.Leu1490Pro) c.4238T>C (p.Leu1413Pro) | |
10 | g.94298562T>G | CA377642044 | PLCE1 | c.4427T>G (p.Leu1476Arg) c.*1894T>G (n.*1894T>G) n.2086T>G n.770T>G c.*635T>G (n.*635T>G) c.4379T>G (p.Leu1460Arg) n.9559T>G n.3024T>G c.5219T>G (p.Leu1740Arg) c.5303T>G (p.Leu1768Arg) c.5351T>G (p.Leu1784Arg) c.4325T>G (p.Leu1442Arg) c.3906T>G c.3467T>G (p.Leu1156Arg) c.*1284T>G (n.*1284T>G) c.4620T>G c.5393T>G (p.Leu1798Arg) c.5390T>G (p.Leu1797Arg) c.5345T>G (p.Leu1782Arg) c.4469T>G (p.Leu1490Arg) c.4238T>G (p.Leu1413Arg) | |
10 | g.94298563G>A | CA470986570 | PLCE1 | c.4428G>A (p.Leu1476=) c.*1895G>A (n.*1895G>A) n.2087G>A n.771G>A c.*636G>A (n.*636G>A) c.4380G>A (p.Leu1460=) n.9560G>A n.3025G>A c.5220G>A (p.Leu1740=) c.5304G>A (p.Leu1768=) c.5352G>A (p.Leu1784=) c.4326G>A (p.Leu1442=) c.3907G>A c.3468G>A (p.Leu1156=) c.*1285G>A (n.*1285G>A) c.4621G>A c.5394G>A (p.Leu1798=) c.5391G>A (p.Leu1797=) c.5346G>A (p.Leu1782=) c.4470G>A (p.Leu1490=) c.4239G>A (p.Leu1413=) | |
10 | g.94298563G>C | CA470986572 | PLCE1 | c.4428G>C (p.Leu1476=) c.*1895G>C (n.*1895G>C) n.2087G>C n.771G>C c.*636G>C (n.*636G>C) c.4380G>C (p.Leu1460=) n.9560G>C n.3025G>C c.5220G>C (p.Leu1740=) c.5304G>C (p.Leu1768=) c.5352G>C (p.Leu1784=) c.4326G>C (p.Leu1442=) c.3907G>C c.3468G>C (p.Leu1156=) c.*1285G>C (n.*1285G>C) c.4621G>C c.5394G>C (p.Leu1798=) c.5391G>C (p.Leu1797=) c.5346G>C (p.Leu1782=) c.4470G>C (p.Leu1490=) c.4239G>C (p.Leu1413=) | |
10 | g.94298563G>T | CA470986571 | PLCE1 | c.4428G>T (p.Leu1476=) c.*1895G>T (n.*1895G>T) n.2087G>T n.771G>T c.*636G>T (n.*636G>T) c.4380G>T (p.Leu1460=) n.9560G>T n.3025G>T c.5220G>T (p.Leu1740=) c.5304G>T (p.Leu1768=) c.5352G>T (p.Leu1784=) c.4326G>T (p.Leu1442=) c.3907G>T c.3468G>T (p.Leu1156=) c.*1285G>T (n.*1285G>T) c.4621G>T c.5394G>T (p.Leu1798=) c.5391G>T (p.Leu1797=) c.5346G>T (p.Leu1782=) c.4470G>T (p.Leu1490=) c.4239G>T (p.Leu1413=) | |
10 | g.94298564C>A | CA377642045 | PLCE1 | c.4429C>A (p.Leu1477Met) c.*1896C>A (n.*1896C>A) n.2088C>A n.772C>A c.*637C>A (n.*637C>A) c.4381C>A (p.Leu1461Met) n.9561C>A n.3026C>A c.5221C>A (p.Leu1741Met) c.5305C>A (p.Leu1769Met) c.5353C>A (p.Leu1785Met) c.4327C>A (p.Leu1443Met) c.3908C>A c.3469C>A (p.Leu1157Met) c.*1286C>A (n.*1286C>A) c.4622C>A c.5395C>A (p.Leu1799Met) c.5392C>A (p.Leu1798Met) c.5347C>A (p.Leu1783Met) c.4471C>A (p.Leu1491Met) c.4240C>A (p.Leu1414Met) | |
10 | g.94298564C>G | CA377642046 | PLCE1 | c.4429C>G (p.Leu1477Val) c.*1896C>G (n.*1896C>G) n.2088C>G n.772C>G c.*637C>G (n.*637C>G) c.4381C>G (p.Leu1461Val) n.9561C>G n.3026C>G c.5221C>G (p.Leu1741Val) c.5305C>G (p.Leu1769Val) c.5353C>G (p.Leu1785Val) c.4327C>G (p.Leu1443Val) c.3908C>G c.3469C>G (p.Leu1157Val) c.*1286C>G (n.*1286C>G) c.4622C>G c.5395C>G (p.Leu1799Val) c.5392C>G (p.Leu1798Val) c.5347C>G (p.Leu1783Val) c.4471C>G (p.Leu1491Val) c.4240C>G (p.Leu1414Val) | |
10 | g.94298564C>T | CA470986574 | PLCE1 | c.4429C>T (p.Leu1477=) c.*1896C>T (n.*1896C>T) n.2088C>T n.772C>T c.*637C>T (n.*637C>T) c.4381C>T (p.Leu1461=) n.9561C>T n.3026C>T c.5221C>T (p.Leu1741=) c.5305C>T (p.Leu1769=) c.5353C>T (p.Leu1785=) c.4327C>T (p.Leu1443=) c.3908C>T c.3469C>T (p.Leu1157=) c.*1286C>T (n.*1286C>T) c.4622C>T c.5395C>T (p.Leu1799=) c.5392C>T (p.Leu1798=) c.5347C>T (p.Leu1783=) c.4471C>T (p.Leu1491=) c.4240C>T (p.Leu1414=) | |
10 | g.94298565T>A | CA377642047 | PLCE1 | c.4430T>A (p.Leu1477Gln) c.*1897T>A (n.*1897T>A) n.2089T>A n.773T>A c.*638T>A (n.*638T>A) c.4382T>A (p.Leu1461Gln) n.9562T>A n.3027T>A c.5222T>A (p.Leu1741Gln) c.5306T>A (p.Leu1769Gln) c.5354T>A (p.Leu1785Gln) c.4328T>A (p.Leu1443Gln) c.3909T>A c.3470T>A (p.Leu1157Gln) c.*1287T>A (n.*1287T>A) c.4623T>A c.5396T>A (p.Leu1799Gln) c.5393T>A (p.Leu1798Gln) c.5348T>A (p.Leu1783Gln) c.4472T>A (p.Leu1491Gln) c.4241T>A (p.Leu1414Gln) | |
10 | g.94298565T>C | CA377642048 | PLCE1 | c.4430T>C (p.Leu1477Pro) c.*1897T>C (n.*1897T>C) n.2089T>C n.773T>C c.*638T>C (n.*638T>C) c.4382T>C (p.Leu1461Pro) n.9562T>C n.3027T>C c.5222T>C (p.Leu1741Pro) c.5306T>C (p.Leu1769Pro) c.5354T>C (p.Leu1785Pro) c.4328T>C (p.Leu1443Pro) c.3909T>C c.3470T>C (p.Leu1157Pro) c.*1287T>C (n.*1287T>C) c.4623T>C c.5396T>C (p.Leu1799Pro) c.5393T>C (p.Leu1798Pro) c.5348T>C (p.Leu1783Pro) c.4472T>C (p.Leu1491Pro) c.4241T>C (p.Leu1414Pro) | |
10 | g.94298565T>G | CA377642049 | PLCE1 | c.4430T>G (p.Leu1477Arg) c.*1897T>G (n.*1897T>G) n.2089T>G n.773T>G c.*638T>G (n.*638T>G) c.4382T>G (p.Leu1461Arg) n.9562T>G n.3027T>G c.5222T>G (p.Leu1741Arg) c.5306T>G (p.Leu1769Arg) c.5354T>G (p.Leu1785Arg) c.4328T>G (p.Leu1443Arg) c.3909T>G c.3470T>G (p.Leu1157Arg) c.*1287T>G (n.*1287T>G) c.4623T>G c.5396T>G (p.Leu1799Arg) c.5393T>G (p.Leu1798Arg) c.5348T>G (p.Leu1783Arg) c.4472T>G (p.Leu1491Arg) c.4241T>G (p.Leu1414Arg) | |
10 | g.94298566G>A | CA470986577 | PLCE1 | c.4431G>A (p.Leu1477=) c.*1898G>A (n.*1898G>A) n.2090G>A n.774G>A c.*639G>A (n.*639G>A) c.4383G>A (p.Leu1461=) n.9563G>A n.3028G>A c.5223G>A (p.Leu1741=) c.5307G>A (p.Leu1769=) c.5355G>A (p.Leu1785=) c.4329G>A (p.Leu1443=) c.3910G>A c.3471G>A (p.Leu1157=) c.*1288G>A (n.*1288G>A) c.4624G>A c.5397G>A (p.Leu1799=) c.5394G>A (p.Leu1798=) c.5349G>A (p.Leu1783=) c.4473G>A (p.Leu1491=) c.4242G>A (p.Leu1414=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298566G>C | CA470986578 | PLCE1 | c.4431G>C (p.Leu1477=) c.*1898G>C (n.*1898G>C) n.2090G>C n.774G>C c.*639G>C (n.*639G>C) c.4383G>C (p.Leu1461=) n.9563G>C n.3028G>C c.5223G>C (p.Leu1741=) c.5307G>C (p.Leu1769=) c.5355G>C (p.Leu1785=) c.4329G>C (p.Leu1443=) c.3910G>C c.3471G>C (p.Leu1157=) c.*1288G>C (n.*1288G>C) c.4624G>C c.5397G>C (p.Leu1799=) c.5394G>C (p.Leu1798=) c.5349G>C (p.Leu1783=) c.4473G>C (p.Leu1491=) c.4242G>C (p.Leu1414=) | |
10 | g.94298566G= | CA1928998440 | PLCE1 | c.4431G= (p.Leu1477=) c.*1898G= (n.*1898G=) n.2090G= n.774G= c.*639G= (n.*639G=) c.4383G= (p.Leu1461=) n.9563G= n.3028G= c.5223G= (p.Leu1741=) c.5307G= (p.Leu1769=) c.5355G= (p.Leu1785=) c.4329G= (p.Leu1443=) c.3910G= c.3471G= (p.Leu1157=) c.*1288G= (n.*1288G=) c.4624G= c.5397G= (p.Leu1799=) c.5394G= (p.Leu1798=) c.5349G= (p.Leu1783=) c.4473G= (p.Leu1491=) c.4242G= (p.Leu1414=) | |
10 | g.94298566G>T | CA470986579 | PLCE1 | c.4431G>T (p.Leu1477=) c.*1898G>T (n.*1898G>T) n.2090G>T n.774G>T c.*639G>T (n.*639G>T) c.4383G>T (p.Leu1461=) n.9563G>T n.3028G>T c.5223G>T (p.Leu1741=) c.5307G>T (p.Leu1769=) c.5355G>T (p.Leu1785=) c.4329G>T (p.Leu1443=) c.3910G>T c.3471G>T (p.Leu1157=) c.*1288G>T (n.*1288G>T) c.4624G>T c.5397G>T (p.Leu1799=) c.5394G>T (p.Leu1798=) c.5349G>T (p.Leu1783=) c.4473G>T (p.Leu1491=) c.4242G>T (p.Leu1414=) | |
10 | g.94298567A>C | CA470986580 | PLCE1 | c.4432A>C (p.Arg1478=) c.*1899A>C (n.*1899A>C) n.2091A>C n.775A>C c.*640A>C (n.*640A>C) c.4384A>C (p.Arg1462=) n.9564A>C n.3029A>C c.5224A>C (p.Arg1742=) c.5308A>C (p.Arg1770=) c.5356A>C (p.Arg1786=) c.4330A>C (p.Arg1444=) c.3911A>C c.3472A>C (p.Arg1158=) c.*1289A>C (n.*1289A>C) c.4625A>C c.5398A>C (p.Arg1800=) c.5395A>C (p.Arg1799=) c.5350A>C (p.Arg1784=) c.4474A>C (p.Arg1492=) c.4243A>C (p.Arg1415=) | |
10 | g.94298567A>G | CA377642050 | PLCE1 | c.4432A>G (p.Arg1478Gly) c.*1899A>G (n.*1899A>G) n.2091A>G n.775A>G c.*640A>G (n.*640A>G) c.4384A>G (p.Arg1462Gly) n.9564A>G n.3029A>G c.5224A>G (p.Arg1742Gly) c.5308A>G (p.Arg1770Gly) c.5356A>G (p.Arg1786Gly) c.4330A>G (p.Arg1444Gly) c.3911A>G c.3472A>G (p.Arg1158Gly) c.*1289A>G (n.*1289A>G) c.4625A>G c.5398A>G (p.Arg1800Gly) c.5395A>G (p.Arg1799Gly) c.5350A>G (p.Arg1784Gly) c.4474A>G (p.Arg1492Gly) c.4243A>G (p.Arg1415Gly) | |
10 | g.94298567A>T | CA377642051 | PLCE1 | c.4432A>T (p.Arg1478Ter) c.*1899A>T (n.*1899A>T) n.2091A>T n.775A>T c.*640A>T (n.*640A>T) c.4384A>T (p.Arg1462Ter) n.9564A>T n.3029A>T c.5224A>T (p.Arg1742Ter) c.5308A>T (p.Arg1770Ter) c.5356A>T (p.Arg1786Ter) c.4330A>T (p.Arg1444Ter) c.3911A>T c.3472A>T (p.Arg1158Ter) c.*1289A>T (n.*1289A>T) c.4625A>T c.5398A>T (p.Arg1800Ter) c.5395A>T (p.Arg1799Ter) c.5350A>T (p.Arg1784Ter) c.4474A>T (p.Arg1492Ter) c.4243A>T (p.Arg1415Ter) | |
10 | g.94298568G>A | CA377642052 | PLCE1 | c.4433G>A (p.Arg1478Lys) c.*1900G>A (n.*1900G>A) n.2092G>A n.776G>A c.*641G>A (n.*641G>A) c.4385G>A (p.Arg1462Lys) n.9565G>A n.3030G>A c.5225G>A (p.Arg1742Lys) c.5309G>A (p.Arg1770Lys) c.5357G>A (p.Arg1786Lys) c.4331G>A (p.Arg1444Lys) c.3912G>A c.3473G>A (p.Arg1158Lys) c.*1290G>A (n.*1290G>A) c.4626G>A c.5399G>A (p.Arg1800Lys) c.5396G>A (p.Arg1799Lys) c.5351G>A (p.Arg1784Lys) c.4475G>A (p.Arg1492Lys) c.4244G>A (p.Arg1415Lys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298568G>C | CA377642053 | PLCE1 | c.4433G>C (p.Arg1478Thr) c.*1900G>C (n.*1900G>C) n.2092G>C n.776G>C c.*641G>C (n.*641G>C) c.4385G>C (p.Arg1462Thr) n.9565G>C n.3030G>C c.5225G>C (p.Arg1742Thr) c.5309G>C (p.Arg1770Thr) c.5357G>C (p.Arg1786Thr) c.4331G>C (p.Arg1444Thr) c.3912G>C c.3473G>C (p.Arg1158Thr) c.*1290G>C (n.*1290G>C) c.4626G>C c.5399G>C (p.Arg1800Thr) c.5396G>C (p.Arg1799Thr) c.5351G>C (p.Arg1784Thr) c.4475G>C (p.Arg1492Thr) c.4244G>C (p.Arg1415Thr) | |
10 | g.94298568G= | CA1928998441 | PLCE1 | c.4433G= (p.Arg1478=) c.*1900G= (n.*1900G=) n.2092G= n.776G= c.*641G= (n.*641G=) c.4385G= (p.Arg1462=) n.9565G= n.3030G= c.5225G= (p.Arg1742=) c.5309G= (p.Arg1770=) c.5357G= (p.Arg1786=) c.4331G= (p.Arg1444=) c.3912G= c.3473G= (p.Arg1158=) c.*1290G= (n.*1290G=) c.4626G= c.5399G= (p.Arg1800=) c.5396G= (p.Arg1799=) c.5351G= (p.Arg1784=) c.4475G= (p.Arg1492=) c.4244G= (p.Arg1415=) | |
10 | g.94298568G>T | CA377642054 | PLCE1 | c.4433G>T (p.Arg1478Ile) c.*1900G>T (n.*1900G>T) n.2092G>T n.776G>T c.*641G>T (n.*641G>T) c.4385G>T (p.Arg1462Ile) n.9565G>T n.3030G>T c.5225G>T (p.Arg1742Ile) c.5309G>T (p.Arg1770Ile) c.5357G>T (p.Arg1786Ile) c.4331G>T (p.Arg1444Ile) c.3912G>T c.3473G>T (p.Arg1158Ile) c.*1290G>T (n.*1290G>T) c.4626G>T c.5399G>T (p.Arg1800Ile) c.5396G>T (p.Arg1799Ile) c.5351G>T (p.Arg1784Ile) c.4475G>T (p.Arg1492Ile) c.4244G>T (p.Arg1415Ile) | |
10 | g.94298569A= | CA1928998442 | PLCE1 | c.4434A= (p.Arg1478=) c.*1901A= (n.*1901A=) n.2093A= n.777A= c.*642A= (n.*642A=) c.4386A= (p.Arg1462=) n.9566A= n.3031A= c.5226A= (p.Arg1742=) c.5310A= (p.Arg1770=) c.5358A= (p.Arg1786=) c.4332A= (p.Arg1444=) c.3913A= c.3474A= (p.Arg1158=) c.*1291A= (n.*1291A=) c.4627A= c.5400A= (p.Arg1800=) c.5397A= (p.Arg1799=) c.5352A= (p.Arg1784=) c.4476A= (p.Arg1492=) c.4245A= (p.Arg1415=) | |
10 | g.94298569A>C | CA377642055 | PLCE1 | c.4434A>C (p.Arg1478Ser) c.*1901A>C (n.*1901A>C) n.2093A>C n.777A>C c.*642A>C (n.*642A>C) c.4386A>C (p.Arg1462Ser) n.9566A>C n.3031A>C c.5226A>C (p.Arg1742Ser) c.5310A>C (p.Arg1770Ser) c.5358A>C (p.Arg1786Ser) c.4332A>C (p.Arg1444Ser) c.3913A>C c.3474A>C (p.Arg1158Ser) c.*1291A>C (n.*1291A>C) c.4627A>C c.5400A>C (p.Arg1800Ser) c.5397A>C (p.Arg1799Ser) c.5352A>C (p.Arg1784Ser) c.4476A>C (p.Arg1492Ser) c.4245A>C (p.Arg1415Ser) | |
10 | g.94298569A>G | CA5613345 | PLCE1 | c.4434A>G (p.Arg1478=) c.*1901A>G (n.*1901A>G) n.2093A>G n.777A>G c.*642A>G (n.*642A>G) c.4386A>G (p.Arg1462=) n.9566A>G n.3031A>G c.5226A>G (p.Arg1742=) c.5310A>G (p.Arg1770=) c.5358A>G (p.Arg1786=) c.4332A>G (p.Arg1444=) c.3913A>G c.3474A>G (p.Arg1158=) c.*1291A>G (n.*1291A>G) c.4627A>G c.5400A>G (p.Arg1800=) c.5397A>G (p.Arg1799=) c.5352A>G (p.Arg1784=) c.4476A>G (p.Arg1492=) c.4245A>G (p.Arg1415=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298569A>T | CA5613344 | PLCE1 | c.4434A>T (p.Arg1478Ser) c.*1901A>T (n.*1901A>T) n.2093A>T n.777A>T c.*642A>T (n.*642A>T) c.4386A>T (p.Arg1462Ser) n.9566A>T n.3031A>T c.5226A>T (p.Arg1742Ser) c.5310A>T (p.Arg1770Ser) c.5358A>T (p.Arg1786Ser) c.4332A>T (p.Arg1444Ser) c.3913A>T c.3474A>T (p.Arg1158Ser) c.*1291A>T (n.*1291A>T) c.4627A>T c.5400A>T (p.Arg1800Ser) c.5397A>T (p.Arg1799Ser) c.5352A>T (p.Arg1784Ser) c.4476A>T (p.Arg1492Ser) c.4245A>T (p.Arg1415Ser) | dbSNP ExAC |
10 | g.94298570A>C | CA377642056 | PLCE1 | c.4435A>C (p.Thr1479Pro) c.*1902A>C (n.*1902A>C) n.2094A>C n.778A>C c.*643A>C (n.*643A>C) c.4387A>C (p.Thr1463Pro) n.9567A>C n.3032A>C c.5227A>C (p.Thr1743Pro) c.5311A>C (p.Thr1771Pro) c.5359A>C (p.Thr1787Pro) c.4333A>C (p.Thr1445Pro) c.3914A>C c.3475A>C (p.Thr1159Pro) c.*1292A>C (n.*1292A>C) c.4628A>C c.5401A>C (p.Thr1801Pro) c.5398A>C (p.Thr1800Pro) c.5353A>C (p.Thr1785Pro) c.4477A>C (p.Thr1493Pro) c.4246A>C (p.Thr1416Pro) | gnomAD v4 |
10 | g.94298570A>G | CA377642058 | PLCE1 | c.4435A>G (p.Thr1479Ala) c.*1902A>G (n.*1902A>G) n.2094A>G n.778A>G c.*643A>G (n.*643A>G) c.4387A>G (p.Thr1463Ala) n.9567A>G n.3032A>G c.5227A>G (p.Thr1743Ala) c.5311A>G (p.Thr1771Ala) c.5359A>G (p.Thr1787Ala) c.4333A>G (p.Thr1445Ala) c.3914A>G c.3475A>G (p.Thr1159Ala) c.*1292A>G (n.*1292A>G) c.4628A>G c.5401A>G (p.Thr1801Ala) c.5398A>G (p.Thr1800Ala) c.5353A>G (p.Thr1785Ala) c.4477A>G (p.Thr1493Ala) c.4246A>G (p.Thr1416Ala) | |
10 | g.94298570A>T | CA377642057 | PLCE1 | c.4435A>T (p.Thr1479Ser) c.*1902A>T (n.*1902A>T) n.2094A>T n.778A>T c.*643A>T (n.*643A>T) c.4387A>T (p.Thr1463Ser) n.9567A>T n.3032A>T c.5227A>T (p.Thr1743Ser) c.5311A>T (p.Thr1771Ser) c.5359A>T (p.Thr1787Ser) c.4333A>T (p.Thr1445Ser) c.3914A>T c.3475A>T (p.Thr1159Ser) c.*1292A>T (n.*1292A>T) c.4628A>T c.5401A>T (p.Thr1801Ser) c.5398A>T (p.Thr1800Ser) c.5353A>T (p.Thr1785Ser) c.4477A>T (p.Thr1493Ser) c.4246A>T (p.Thr1416Ser) | |
10 | g.94298571C>A | CA377642059 | PLCE1 | c.4436C>A (p.Thr1479Asn) c.*1903C>A (n.*1903C>A) n.2095C>A n.779C>A c.*644C>A (n.*644C>A) c.4388C>A (p.Thr1463Asn) n.9568C>A n.3033C>A c.5228C>A (p.Thr1743Asn) c.5312C>A (p.Thr1771Asn) c.5360C>A (p.Thr1787Asn) c.4334C>A (p.Thr1445Asn) c.3915C>A c.3476C>A (p.Thr1159Asn) c.*1293C>A (n.*1293C>A) c.4629C>A c.5402C>A (p.Thr1801Asn) c.5399C>A (p.Thr1800Asn) c.5354C>A (p.Thr1785Asn) c.4478C>A (p.Thr1493Asn) c.4247C>A (p.Thr1416Asn) | |
10 | g.94298571C>G | CA377642061 | PLCE1 | c.4436C>G (p.Thr1479Ser) c.*1903C>G (n.*1903C>G) n.2095C>G n.779C>G c.*644C>G (n.*644C>G) c.4388C>G (p.Thr1463Ser) n.9568C>G n.3033C>G c.5228C>G (p.Thr1743Ser) c.5312C>G (p.Thr1771Ser) c.5360C>G (p.Thr1787Ser) c.4334C>G (p.Thr1445Ser) c.3915C>G c.3476C>G (p.Thr1159Ser) c.*1293C>G (n.*1293C>G) c.4629C>G c.5402C>G (p.Thr1801Ser) c.5399C>G (p.Thr1800Ser) c.5354C>G (p.Thr1785Ser) c.4478C>G (p.Thr1493Ser) c.4247C>G (p.Thr1416Ser) | |
10 | g.94298571C>T | CA377642060 | PLCE1 | c.4436C>T (p.Thr1479Ile) c.*1903C>T (n.*1903C>T) n.2095C>T n.779C>T c.*644C>T (n.*644C>T) c.4388C>T (p.Thr1463Ile) n.9568C>T n.3033C>T c.5228C>T (p.Thr1743Ile) c.5312C>T (p.Thr1771Ile) c.5360C>T (p.Thr1787Ile) c.4334C>T (p.Thr1445Ile) c.3915C>T c.3476C>T (p.Thr1159Ile) c.*1293C>T (n.*1293C>T) c.4629C>T c.5402C>T (p.Thr1801Ile) c.5399C>T (p.Thr1800Ile) c.5354C>T (p.Thr1785Ile) c.4478C>T (p.Thr1493Ile) c.4247C>T (p.Thr1416Ile) | |
10 | g.94298572T>A | CA470986582 | PLCE1 | c.4437T>A (p.Thr1479=) c.*1904T>A (n.*1904T>A) n.2096T>A n.780T>A c.*645T>A (n.*645T>A) c.4389T>A (p.Thr1463=) n.9569T>A n.3034T>A c.5229T>A (p.Thr1743=) c.5313T>A (p.Thr1771=) c.5361T>A (p.Thr1787=) c.4335T>A (p.Thr1445=) c.3916T>A c.3477T>A (p.Thr1159=) c.*1294T>A (n.*1294T>A) c.4630T>A c.5403T>A (p.Thr1801=) c.5400T>A (p.Thr1800=) c.5355T>A (p.Thr1785=) c.4479T>A (p.Thr1493=) c.4248T>A (p.Thr1416=) | |
10 | g.94298572T>C | CA470986583 | PLCE1 | c.4437T>C (p.Thr1479=) c.*1904T>C (n.*1904T>C) n.2096T>C n.780T>C c.*645T>C (n.*645T>C) c.4389T>C (p.Thr1463=) n.9569T>C n.3034T>C c.5229T>C (p.Thr1743=) c.5313T>C (p.Thr1771=) c.5361T>C (p.Thr1787=) c.4335T>C (p.Thr1445=) c.3916T>C c.3477T>C (p.Thr1159=) c.*1294T>C (n.*1294T>C) c.4630T>C c.5403T>C (p.Thr1801=) c.5400T>C (p.Thr1800=) c.5355T>C (p.Thr1785=) c.4479T>C (p.Thr1493=) c.4248T>C (p.Thr1416=) | dbSNP |
10 | g.94298572T>G | CA470986584 | PLCE1 | c.4437T>G (p.Thr1479=) c.*1904T>G (n.*1904T>G) n.2096T>G n.780T>G c.*645T>G (n.*645T>G) c.4389T>G (p.Thr1463=) n.9569T>G n.3034T>G c.5229T>G (p.Thr1743=) c.5313T>G (p.Thr1771=) c.5361T>G (p.Thr1787=) c.4335T>G (p.Thr1445=) c.3916T>G c.3477T>G (p.Thr1159=) c.*1294T>G (n.*1294T>G) c.4630T>G c.5403T>G (p.Thr1801=) c.5400T>G (p.Thr1800=) c.5355T>G (p.Thr1785=) c.4479T>G (p.Thr1493=) c.4248T>G (p.Thr1416=) | |
10 | g.94298572T= | CA1928998443 | PLCE1 | c.4437T= (p.Thr1479=) c.*1904T= (n.*1904T=) n.2096T= n.780T= c.*645T= (n.*645T=) c.4389T= (p.Thr1463=) n.9569T= n.3034T= c.5229T= (p.Thr1743=) c.5313T= (p.Thr1771=) c.5361T= (p.Thr1787=) c.4335T= (p.Thr1445=) c.3916T= c.3477T= (p.Thr1159=) c.*1294T= (n.*1294T=) c.4630T= c.5403T= (p.Thr1801=) c.5400T= (p.Thr1800=) c.5355T= (p.Thr1785=) c.4479T= (p.Thr1493=) c.4248T= (p.Thr1416=) | |
10 | g.94298573T>A | CA377642062 | PLCE1 | c.4438T>A (p.Tyr1480Asn) c.*1905T>A (n.*1905T>A) n.2097T>A n.781T>A c.*646T>A (n.*646T>A) c.4390T>A (p.Tyr1464Asn) n.9570T>A n.3035T>A c.5230T>A (p.Tyr1744Asn) c.5314T>A (p.Tyr1772Asn) c.5362T>A (p.Tyr1788Asn) c.4336T>A (p.Tyr1446Asn) c.3917T>A c.3478T>A (p.Tyr1160Asn) c.*1295T>A (n.*1295T>A) c.4631T>A c.5404T>A (p.Tyr1802Asn) c.5401T>A (p.Tyr1801Asn) c.5356T>A (p.Tyr1786Asn) c.4480T>A (p.Tyr1494Asn) c.4249T>A (p.Tyr1417Asn) | |
10 | g.94298573T>C | CA377642064 | PLCE1 | c.4438T>C (p.Tyr1480His) c.*1905T>C (n.*1905T>C) n.2097T>C n.781T>C c.*646T>C (n.*646T>C) c.4390T>C (p.Tyr1464His) n.9570T>C n.3035T>C c.5230T>C (p.Tyr1744His) c.5314T>C (p.Tyr1772His) c.5362T>C (p.Tyr1788His) c.4336T>C (p.Tyr1446His) c.3917T>C c.3478T>C (p.Tyr1160His) c.*1295T>C (n.*1295T>C) c.4631T>C c.5404T>C (p.Tyr1802His) c.5401T>C (p.Tyr1801His) c.5356T>C (p.Tyr1786His) c.4480T>C (p.Tyr1494His) c.4249T>C (p.Tyr1417His) | |
10 | g.94298573T>G | CA377642063 | PLCE1 | c.4438T>G (p.Tyr1480Asp) c.*1905T>G (n.*1905T>G) n.2097T>G n.781T>G c.*646T>G (n.*646T>G) c.4390T>G (p.Tyr1464Asp) n.9570T>G n.3035T>G c.5230T>G (p.Tyr1744Asp) c.5314T>G (p.Tyr1772Asp) c.5362T>G (p.Tyr1788Asp) c.4336T>G (p.Tyr1446Asp) c.3917T>G c.3478T>G (p.Tyr1160Asp) c.*1295T>G (n.*1295T>G) c.4631T>G c.5404T>G (p.Tyr1802Asp) c.5401T>G (p.Tyr1801Asp) c.5356T>G (p.Tyr1786Asp) c.4480T>G (p.Tyr1494Asp) c.4249T>G (p.Tyr1417Asp) | |
10 | g.94298574A>C | CA377642065 | PLCE1 | c.4439A>C (p.Tyr1480Ser) c.*1906A>C (n.*1906A>C) n.2098A>C n.782A>C c.*647A>C (n.*647A>C) c.4391A>C (p.Tyr1464Ser) n.9571A>C n.3036A>C c.5231A>C (p.Tyr1744Ser) c.5315A>C (p.Tyr1772Ser) c.5363A>C (p.Tyr1788Ser) c.4337A>C (p.Tyr1446Ser) c.3918A>C c.3479A>C (p.Tyr1160Ser) c.*1296A>C (n.*1296A>C) c.4632A>C c.5405A>C (p.Tyr1802Ser) c.5402A>C (p.Tyr1801Ser) c.5357A>C (p.Tyr1786Ser) c.4481A>C (p.Tyr1494Ser) c.4250A>C (p.Tyr1417Ser) | |
10 | g.94298574A>G | CA377642067 | PLCE1 | c.4439A>G (p.Tyr1480Cys) c.*1906A>G (n.*1906A>G) n.2098A>G n.782A>G c.*647A>G (n.*647A>G) c.4391A>G (p.Tyr1464Cys) n.9571A>G n.3036A>G c.5231A>G (p.Tyr1744Cys) c.5315A>G (p.Tyr1772Cys) c.5363A>G (p.Tyr1788Cys) c.4337A>G (p.Tyr1446Cys) c.3918A>G c.3479A>G (p.Tyr1160Cys) c.*1296A>G (n.*1296A>G) c.4632A>G c.5405A>G (p.Tyr1802Cys) c.5402A>G (p.Tyr1801Cys) c.5357A>G (p.Tyr1786Cys) c.4481A>G (p.Tyr1494Cys) c.4250A>G (p.Tyr1417Cys) | |
10 | g.94298574A>T | CA377642066 | PLCE1 | c.4439A>T (p.Tyr1480Phe) c.*1906A>T (n.*1906A>T) n.2098A>T n.782A>T c.*647A>T (n.*647A>T) c.4391A>T (p.Tyr1464Phe) n.9571A>T n.3036A>T c.5231A>T (p.Tyr1744Phe) c.5315A>T (p.Tyr1772Phe) c.5363A>T (p.Tyr1788Phe) c.4337A>T (p.Tyr1446Phe) c.3918A>T c.3479A>T (p.Tyr1160Phe) c.*1296A>T (n.*1296A>T) c.4632A>T c.5405A>T (p.Tyr1802Phe) c.5402A>T (p.Tyr1801Phe) c.5357A>T (p.Tyr1786Phe) c.4481A>T (p.Tyr1494Phe) c.4250A>T (p.Tyr1417Phe) | |
10 | g.94298574dup | CA2573145877 | PLCE1 | c.4439dup (p.Tyr1480Ter) c.*1906dup (n.*1906dup) n.2098dup n.782dup c.*647dup (n.*647dup) c.4391dup (p.Tyr1464Ter) n.9571dup n.3036dup c.5231dup (p.Tyr1744Ter) c.5315dup (p.Tyr1772Ter) c.5363dup (p.Tyr1788Ter) c.4337dup (p.Tyr1446Ter) c.3918dup c.3479dup (p.Tyr1160Ter) c.*1296dup (n.*1296dup) c.4632dup c.5405dup (p.Tyr1802Ter) c.5402dup (p.Tyr1801Ter) c.5357dup (p.Tyr1786Ter) c.4481dup (p.Tyr1494Ter) c.4250dup (p.Tyr1417Ter) | ClinVar dbSNP |
10 | g.94298575C>A | CA377642068 | PLCE1 | c.4440C>A (p.Tyr1480Ter) c.*1907C>A (n.*1907C>A) n.2099C>A n.783C>A c.*648C>A (n.*648C>A) c.4392C>A (p.Tyr1464Ter) n.9572C>A n.3037C>A c.5232C>A (p.Tyr1744Ter) c.5316C>A (p.Tyr1772Ter) c.5364C>A (p.Tyr1788Ter) c.4338C>A (p.Tyr1446Ter) c.3919C>A c.3480C>A (p.Tyr1160Ter) c.*1297C>A (n.*1297C>A) c.4633C>A c.5406C>A (p.Tyr1802Ter) c.5403C>A (p.Tyr1801Ter) c.5358C>A (p.Tyr1786Ter) c.4482C>A (p.Tyr1494Ter) c.4251C>A (p.Tyr1417Ter) | gnomAD v4 |
10 | g.94298575C= | CA1928998444 | PLCE1 | c.4440C= (p.Tyr1480=) c.*1907C= (n.*1907C=) n.2099C= n.783C= c.*648C= (n.*648C=) c.4392C= (p.Tyr1464=) n.9572C= n.3037C= c.5232C= (p.Tyr1744=) c.5316C= (p.Tyr1772=) c.5364C= (p.Tyr1788=) c.4338C= (p.Tyr1446=) c.3919C= c.3480C= (p.Tyr1160=) c.*1297C= (n.*1297C=) c.4633C= c.5406C= (p.Tyr1802=) c.5403C= (p.Tyr1801=) c.5358C= (p.Tyr1786=) c.4482C= (p.Tyr1494=) c.4251C= (p.Tyr1417=) | |
10 | g.94298575C>G | CA377642069 | PLCE1 | c.4440C>G (p.Tyr1480Ter) c.*1907C>G (n.*1907C>G) n.2099C>G n.783C>G c.*648C>G (n.*648C>G) c.4392C>G (p.Tyr1464Ter) n.9572C>G n.3037C>G c.5232C>G (p.Tyr1744Ter) c.5316C>G (p.Tyr1772Ter) c.5364C>G (p.Tyr1788Ter) c.4338C>G (p.Tyr1446Ter) c.3919C>G c.3480C>G (p.Tyr1160Ter) c.*1297C>G (n.*1297C>G) c.4633C>G c.5406C>G (p.Tyr1802Ter) c.5403C>G (p.Tyr1801Ter) c.5358C>G (p.Tyr1786Ter) c.4482C>G (p.Tyr1494Ter) c.4251C>G (p.Tyr1417Ter) | |
10 | g.94298575C>T | CA5613346 | PLCE1 | c.4440C>T (p.Tyr1480=) c.*1907C>T (n.*1907C>T) n.2099C>T n.783C>T c.*648C>T (n.*648C>T) c.4392C>T (p.Tyr1464=) n.9572C>T n.3037C>T c.5232C>T (p.Tyr1744=) c.5316C>T (p.Tyr1772=) c.5364C>T (p.Tyr1788=) c.4338C>T (p.Tyr1446=) c.3919C>T c.3480C>T (p.Tyr1160=) c.*1297C>T (n.*1297C>T) c.4633C>T c.5406C>T (p.Tyr1802=) c.5403C>T (p.Tyr1801=) c.5358C>T (p.Tyr1786=) c.4482C>T (p.Tyr1494=) c.4251C>T (p.Tyr1417=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298576C>A | CA377642070 | PLCE1 | c.4441C>A (p.Pro1481Thr) c.*1908C>A (n.*1908C>A) n.2100C>A n.784C>A c.*649C>A (n.*649C>A) c.4393C>A (p.Pro1465Thr) n.9573C>A n.3038C>A c.5233C>A (p.Pro1745Thr) c.5317C>A (p.Pro1773Thr) c.5365C>A (p.Pro1789Thr) c.4339C>A (p.Pro1447Thr) c.3920C>A c.3481C>A (p.Pro1161Thr) c.*1298C>A (n.*1298C>A) c.4634C>A c.5407C>A (p.Pro1803Thr) c.5404C>A (p.Pro1802Thr) c.5359C>A (p.Pro1787Thr) c.4483C>A (p.Pro1495Thr) c.4252C>A (p.Pro1418Thr) | |
10 | g.94298576C= | CA1928998445 | PLCE1 | c.4441C= (p.Pro1481=) c.*1908C= (n.*1908C=) n.2100C= n.784C= c.*649C= (n.*649C=) c.4393C= (p.Pro1465=) n.9573C= n.3038C= c.5233C= (p.Pro1745=) c.5317C= (p.Pro1773=) c.5365C= (p.Pro1789=) c.4339C= (p.Pro1447=) c.3920C= c.3481C= (p.Pro1161=) c.*1298C= (n.*1298C=) c.4634C= c.5407C= (p.Pro1803=) c.5404C= (p.Pro1802=) c.5359C= (p.Pro1787=) c.4483C= (p.Pro1495=) c.4252C= (p.Pro1418=) | |
10 | g.94298576C>G | CA377642071 | PLCE1 | c.4441C>G (p.Pro1481Ala) c.*1908C>G (n.*1908C>G) n.2100C>G n.784C>G c.*649C>G (n.*649C>G) c.4393C>G (p.Pro1465Ala) n.9573C>G n.3038C>G c.5233C>G (p.Pro1745Ala) c.5317C>G (p.Pro1773Ala) c.5365C>G (p.Pro1789Ala) c.4339C>G (p.Pro1447Ala) c.3920C>G c.3481C>G (p.Pro1161Ala) c.*1298C>G (n.*1298C>G) c.4634C>G c.5407C>G (p.Pro1803Ala) c.5404C>G (p.Pro1802Ala) c.5359C>G (p.Pro1787Ala) c.4483C>G (p.Pro1495Ala) c.4252C>G (p.Pro1418Ala) | gnomAD v4 |
10 | g.94298576C>T | CA5613347 | PLCE1 | c.4441C>T (p.Pro1481Ser) c.*1908C>T (n.*1908C>T) n.2100C>T n.784C>T c.*649C>T (n.*649C>T) c.4393C>T (p.Pro1465Ser) n.9573C>T n.3038C>T c.5233C>T (p.Pro1745Ser) c.5317C>T (p.Pro1773Ser) c.5365C>T (p.Pro1789Ser) c.4339C>T (p.Pro1447Ser) c.3920C>T c.3481C>T (p.Pro1161Ser) c.*1298C>T (n.*1298C>T) c.4634C>T c.5407C>T (p.Pro1803Ser) c.5404C>T (p.Pro1802Ser) c.5359C>T (p.Pro1787Ser) c.4483C>T (p.Pro1495Ser) c.4252C>T (p.Pro1418Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298577C>A | CA377642072 | PLCE1 | c.4442C>A (p.Pro1481His) c.*1909C>A (n.*1909C>A) n.2101C>A n.785C>A c.*650C>A (n.*650C>A) c.4394C>A (p.Pro1465His) n.9574C>A n.3039C>A c.5234C>A (p.Pro1745His) c.5318C>A (p.Pro1773His) c.5366C>A (p.Pro1789His) c.4340C>A (p.Pro1447His) c.3921C>A c.3482C>A (p.Pro1161His) c.*1299C>A (n.*1299C>A) c.4635C>A c.5408C>A (p.Pro1803His) c.5405C>A (p.Pro1802His) c.5360C>A (p.Pro1787His) c.4484C>A (p.Pro1495His) c.4253C>A (p.Pro1418His) | |
10 | g.94298577C>G | CA377642073 | PLCE1 | c.4442C>G (p.Pro1481Arg) c.*1909C>G (n.*1909C>G) n.2101C>G n.785C>G c.*650C>G (n.*650C>G) c.4394C>G (p.Pro1465Arg) n.9574C>G n.3039C>G c.5234C>G (p.Pro1745Arg) c.5318C>G (p.Pro1773Arg) c.5366C>G (p.Pro1789Arg) c.4340C>G (p.Pro1447Arg) c.3921C>G c.3482C>G (p.Pro1161Arg) c.*1299C>G (n.*1299C>G) c.4635C>G c.5408C>G (p.Pro1803Arg) c.5405C>G (p.Pro1802Arg) c.5360C>G (p.Pro1787Arg) c.4484C>G (p.Pro1495Arg) c.4253C>G (p.Pro1418Arg) | |
10 | g.94298577C>T | CA377642074 | PLCE1 | c.4442C>T (p.Pro1481Leu) c.*1909C>T (n.*1909C>T) n.2101C>T n.785C>T c.*650C>T (n.*650C>T) c.4394C>T (p.Pro1465Leu) n.9574C>T n.3039C>T c.5234C>T (p.Pro1745Leu) c.5318C>T (p.Pro1773Leu) c.5366C>T (p.Pro1789Leu) c.4340C>T (p.Pro1447Leu) c.3921C>T c.3482C>T (p.Pro1161Leu) c.*1299C>T (n.*1299C>T) c.4635C>T c.5408C>T (p.Pro1803Leu) c.5405C>T (p.Pro1802Leu) c.5360C>T (p.Pro1787Leu) c.4484C>T (p.Pro1495Leu) c.4253C>T (p.Pro1418Leu) | |
10 | g.94298578T>A | CA470986586 | PLCE1 | c.4443T>A (p.Pro1481=) c.*1910T>A (n.*1910T>A) n.2102T>A n.786T>A c.*651T>A (n.*651T>A) c.4395T>A (p.Pro1465=) n.9575T>A n.3040T>A c.5235T>A (p.Pro1745=) c.5319T>A (p.Pro1773=) c.5367T>A (p.Pro1789=) c.4341T>A (p.Pro1447=) c.3922T>A c.3483T>A (p.Pro1161=) c.*1300T>A (n.*1300T>A) c.4636T>A c.5409T>A (p.Pro1803=) c.5406T>A (p.Pro1802=) c.5361T>A (p.Pro1787=) c.4485T>A (p.Pro1495=) c.4254T>A (p.Pro1418=) | |
10 | g.94298578T>C | CA470986587 | PLCE1 | c.4443T>C (p.Pro1481=) c.*1910T>C (n.*1910T>C) n.2102T>C n.786T>C c.*651T>C (n.*651T>C) c.4395T>C (p.Pro1465=) n.9575T>C n.3040T>C c.5235T>C (p.Pro1745=) c.5319T>C (p.Pro1773=) c.5367T>C (p.Pro1789=) c.4341T>C (p.Pro1447=) c.3922T>C c.3483T>C (p.Pro1161=) c.*1300T>C (n.*1300T>C) c.4636T>C c.5409T>C (p.Pro1803=) c.5406T>C (p.Pro1802=) c.5361T>C (p.Pro1787=) c.4485T>C (p.Pro1495=) c.4254T>C (p.Pro1418=) | |
10 | g.94298578T>G | CA470986588 | PLCE1 | c.4443T>G (p.Pro1481=) c.*1910T>G (n.*1910T>G) n.2102T>G n.786T>G c.*651T>G (n.*651T>G) c.4395T>G (p.Pro1465=) n.9575T>G n.3040T>G c.5235T>G (p.Pro1745=) c.5319T>G (p.Pro1773=) c.5367T>G (p.Pro1789=) c.4341T>G (p.Pro1447=) c.3922T>G c.3483T>G (p.Pro1161=) c.*1300T>G (n.*1300T>G) c.4636T>G c.5409T>G (p.Pro1803=) c.5406T>G (p.Pro1802=) c.5361T>G (p.Pro1787=) c.4485T>G (p.Pro1495=) c.4254T>G (p.Pro1418=) | |
10 | g.94298579G>A | CA377642075 | PLCE1 | c.4444G>A (p.Ala1482Thr) c.*1911G>A (n.*1911G>A) n.2103G>A n.787G>A c.*652G>A (n.*652G>A) c.4396G>A (p.Ala1466Thr) n.9576G>A n.3041G>A c.5236G>A (p.Ala1746Thr) c.5320G>A (p.Ala1774Thr) c.5368G>A (p.Ala1790Thr) c.4342G>A (p.Ala1448Thr) c.3923G>A c.3484G>A (p.Ala1162Thr) c.*1301G>A (n.*1301G>A) c.4637G>A c.5410G>A (p.Ala1804Thr) c.5407G>A (p.Ala1803Thr) c.5362G>A (p.Ala1788Thr) c.4486G>A (p.Ala1496Thr) c.4255G>A (p.Ala1419Thr) | |
10 | g.94298579G>C | CA377642076 | PLCE1 | c.4444G>C (p.Ala1482Pro) c.*1911G>C (n.*1911G>C) n.2103G>C n.787G>C c.*652G>C (n.*652G>C) c.4396G>C (p.Ala1466Pro) n.9576G>C n.3041G>C c.5236G>C (p.Ala1746Pro) c.5320G>C (p.Ala1774Pro) c.5368G>C (p.Ala1790Pro) c.4342G>C (p.Ala1448Pro) c.3923G>C c.3484G>C (p.Ala1162Pro) c.*1301G>C (n.*1301G>C) c.4637G>C c.5410G>C (p.Ala1804Pro) c.5407G>C (p.Ala1803Pro) c.5362G>C (p.Ala1788Pro) c.4486G>C (p.Ala1496Pro) c.4255G>C (p.Ala1419Pro) | |
10 | g.94298579G>T | CA377642077 | PLCE1 | c.4444G>T (p.Ala1482Ser) c.*1911G>T (n.*1911G>T) n.2103G>T n.787G>T c.*652G>T (n.*652G>T) c.4396G>T (p.Ala1466Ser) n.9576G>T n.3041G>T c.5236G>T (p.Ala1746Ser) c.5320G>T (p.Ala1774Ser) c.5368G>T (p.Ala1790Ser) c.4342G>T (p.Ala1448Ser) c.3923G>T c.3484G>T (p.Ala1162Ser) c.*1301G>T (n.*1301G>T) c.4637G>T c.5410G>T (p.Ala1804Ser) c.5407G>T (p.Ala1803Ser) c.5362G>T (p.Ala1788Ser) c.4486G>T (p.Ala1496Ser) c.4255G>T (p.Ala1419Ser) | |
10 | g.94298580C>A | CA377642078 | PLCE1 | c.4445C>A (p.Ala1482Asp) c.*1912C>A (n.*1912C>A) n.2104C>A n.788C>A c.*653C>A (n.*653C>A) c.4397C>A (p.Ala1466Asp) n.9577C>A n.3042C>A c.5237C>A (p.Ala1746Asp) c.5321C>A (p.Ala1774Asp) c.5369C>A (p.Ala1790Asp) c.4343C>A (p.Ala1448Asp) c.3924C>A c.3485C>A (p.Ala1162Asp) c.*1302C>A (n.*1302C>A) c.4638C>A c.5411C>A (p.Ala1804Asp) c.5408C>A (p.Ala1803Asp) c.5363C>A (p.Ala1788Asp) c.4487C>A (p.Ala1496Asp) c.4256C>A (p.Ala1419Asp) | |
10 | g.94298580C>G | CA377642079 | PLCE1 | c.4445C>G (p.Ala1482Gly) c.*1912C>G (n.*1912C>G) n.2104C>G n.788C>G c.*653C>G (n.*653C>G) c.4397C>G (p.Ala1466Gly) n.9577C>G n.3042C>G c.5237C>G (p.Ala1746Gly) c.5321C>G (p.Ala1774Gly) c.5369C>G (p.Ala1790Gly) c.4343C>G (p.Ala1448Gly) c.3924C>G c.3485C>G (p.Ala1162Gly) c.*1302C>G (n.*1302C>G) c.4638C>G c.5411C>G (p.Ala1804Gly) c.5408C>G (p.Ala1803Gly) c.5363C>G (p.Ala1788Gly) c.4487C>G (p.Ala1496Gly) c.4256C>G (p.Ala1419Gly) | |
10 | g.94298580C>T | CA377642080 | PLCE1 | c.4445C>T (p.Ala1482Val) c.*1912C>T (n.*1912C>T) n.2104C>T n.788C>T c.*653C>T (n.*653C>T) c.4397C>T (p.Ala1466Val) n.9577C>T n.3042C>T c.5237C>T (p.Ala1746Val) c.5321C>T (p.Ala1774Val) c.5369C>T (p.Ala1790Val) c.4343C>T (p.Ala1448Val) c.3924C>T c.3485C>T (p.Ala1162Val) c.*1302C>T (n.*1302C>T) c.4638C>T c.5411C>T (p.Ala1804Val) c.5408C>T (p.Ala1803Val) c.5363C>T (p.Ala1788Val) c.4487C>T (p.Ala1496Val) c.4256C>T (p.Ala1419Val) | |
10 | g.94298581T>A | CA470986589 | PLCE1 | c.4446T>A (p.Ala1482=) c.*1913T>A (n.*1913T>A) n.2105T>A n.789T>A c.*654T>A (n.*654T>A) c.4398T>A (p.Ala1466=) n.9578T>A n.3043T>A c.5238T>A (p.Ala1746=) c.5322T>A (p.Ala1774=) c.5370T>A (p.Ala1790=) c.4344T>A (p.Ala1448=) c.3925T>A c.3486T>A (p.Ala1162=) c.*1303T>A (n.*1303T>A) c.4639T>A c.5412T>A (p.Ala1804=) c.5409T>A (p.Ala1803=) c.5364T>A (p.Ala1788=) c.4488T>A (p.Ala1496=) c.4257T>A (p.Ala1419=) | |
10 | g.94298581T>C | CA470986591 | PLCE1 | c.4446T>C (p.Ala1482=) c.*1913T>C (n.*1913T>C) n.2105T>C n.789T>C c.*654T>C (n.*654T>C) c.4398T>C (p.Ala1466=) n.9578T>C n.3043T>C c.5238T>C (p.Ala1746=) c.5322T>C (p.Ala1774=) c.5370T>C (p.Ala1790=) c.4344T>C (p.Ala1448=) c.3925T>C c.3486T>C (p.Ala1162=) c.*1303T>C (n.*1303T>C) c.4639T>C c.5412T>C (p.Ala1804=) c.5409T>C (p.Ala1803=) c.5364T>C (p.Ala1788=) c.4488T>C (p.Ala1496=) c.4257T>C (p.Ala1419=) | gnomAD v4 |
10 | g.94298581T>G | CA470986592 | PLCE1 | c.4446T>G (p.Ala1482=) c.*1913T>G (n.*1913T>G) n.2105T>G n.789T>G c.*654T>G (n.*654T>G) c.4398T>G (p.Ala1466=) n.9578T>G n.3043T>G c.5238T>G (p.Ala1746=) c.5322T>G (p.Ala1774=) c.5370T>G (p.Ala1790=) c.4344T>G (p.Ala1448=) c.3925T>G c.3486T>G (p.Ala1162=) c.*1303T>G (n.*1303T>G) c.4639T>G c.5412T>G (p.Ala1804=) c.5409T>G (p.Ala1803=) c.5364T>G (p.Ala1788=) c.4488T>G (p.Ala1496=) c.4257T>G (p.Ala1419=) | |
10 | g.94298582G>A | CA377642083 | PLCE1 | c.4447G>A (p.Ala1483Thr) c.*1914G>A (n.*1914G>A) n.2106G>A n.790G>A c.*655G>A (n.*655G>A) c.4399G>A (p.Ala1467Thr) n.9579G>A n.3044G>A c.5239G>A (p.Ala1747Thr) c.5323G>A (p.Ala1775Thr) c.5371G>A (p.Ala1791Thr) c.4345G>A (p.Ala1449Thr) c.3926G>A c.3487G>A (p.Ala1163Thr) c.*1304G>A (n.*1304G>A) c.4640G>A c.5413G>A (p.Ala1805Thr) c.5410G>A (p.Ala1804Thr) c.5365G>A (p.Ala1789Thr) c.4489G>A (p.Ala1497Thr) c.4258G>A (p.Ala1420Thr) | |
10 | g.94298582G>C | CA377642081 | PLCE1 | c.4447G>C (p.Ala1483Pro) c.*1914G>C (n.*1914G>C) n.2106G>C n.790G>C c.*655G>C (n.*655G>C) c.4399G>C (p.Ala1467Pro) n.9579G>C n.3044G>C c.5239G>C (p.Ala1747Pro) c.5323G>C (p.Ala1775Pro) c.5371G>C (p.Ala1791Pro) c.4345G>C (p.Ala1449Pro) c.3926G>C c.3487G>C (p.Ala1163Pro) c.*1304G>C (n.*1304G>C) c.4640G>C c.5413G>C (p.Ala1805Pro) c.5410G>C (p.Ala1804Pro) c.5365G>C (p.Ala1789Pro) c.4489G>C (p.Ala1497Pro) c.4258G>C (p.Ala1420Pro) | |
10 | g.94298582G>T | CA377642082 | PLCE1 | c.4447G>T (p.Ala1483Ser) c.*1914G>T (n.*1914G>T) n.2106G>T n.790G>T c.*655G>T (n.*655G>T) c.4399G>T (p.Ala1467Ser) n.9579G>T n.3044G>T c.5239G>T (p.Ala1747Ser) c.5323G>T (p.Ala1775Ser) c.5371G>T (p.Ala1791Ser) c.4345G>T (p.Ala1449Ser) c.3926G>T c.3487G>T (p.Ala1163Ser) c.*1304G>T (n.*1304G>T) c.4640G>T c.5413G>T (p.Ala1805Ser) c.5410G>T (p.Ala1804Ser) c.5365G>T (p.Ala1789Ser) c.4489G>T (p.Ala1497Ser) c.4258G>T (p.Ala1420Ser) | |
10 | g.94298583C>A | CA377642084 | PLCE1 | c.4448C>A (p.Ala1483Asp) c.*1915C>A (n.*1915C>A) n.2107C>A n.791C>A c.*656C>A (n.*656C>A) c.4400C>A (p.Ala1467Asp) n.9580C>A n.3045C>A c.5240C>A (p.Ala1747Asp) c.5324C>A (p.Ala1775Asp) c.5372C>A (p.Ala1791Asp) c.4346C>A (p.Ala1449Asp) c.3927C>A c.3488C>A (p.Ala1163Asp) c.*1305C>A (n.*1305C>A) c.4641C>A c.5414C>A (p.Ala1805Asp) c.5411C>A (p.Ala1804Asp) c.5366C>A (p.Ala1789Asp) c.4490C>A (p.Ala1497Asp) c.4259C>A (p.Ala1420Asp) | |
10 | g.94298583C>G | CA377642085 | PLCE1 | c.4448C>G (p.Ala1483Gly) c.*1915C>G (n.*1915C>G) n.2107C>G n.791C>G c.*656C>G (n.*656C>G) c.4400C>G (p.Ala1467Gly) n.9580C>G n.3045C>G c.5240C>G (p.Ala1747Gly) c.5324C>G (p.Ala1775Gly) c.5372C>G (p.Ala1791Gly) c.4346C>G (p.Ala1449Gly) c.3927C>G c.3488C>G (p.Ala1163Gly) c.*1305C>G (n.*1305C>G) c.4641C>G c.5414C>G (p.Ala1805Gly) c.5411C>G (p.Ala1804Gly) c.5366C>G (p.Ala1789Gly) c.4490C>G (p.Ala1497Gly) c.4259C>G (p.Ala1420Gly) | |
10 | g.94298583C>T | CA377642086 | PLCE1 | c.4448C>T (p.Ala1483Val) c.*1915C>T (n.*1915C>T) n.2107C>T n.791C>T c.*656C>T (n.*656C>T) c.4400C>T (p.Ala1467Val) n.9580C>T n.3045C>T c.5240C>T (p.Ala1747Val) c.5324C>T (p.Ala1775Val) c.5372C>T (p.Ala1791Val) c.4346C>T (p.Ala1449Val) c.3927C>T c.3488C>T (p.Ala1163Val) c.*1305C>T (n.*1305C>T) c.4641C>T c.5414C>T (p.Ala1805Val) c.5411C>T (p.Ala1804Val) c.5366C>T (p.Ala1789Val) c.4490C>T (p.Ala1497Val) c.4259C>T (p.Ala1420Val) | |
10 | g.94298584C>A | CA470986594 | PLCE1 | c.4449C>A (p.Ala1483=) c.*1916C>A (n.*1916C>A) n.2108C>A n.792C>A c.*657C>A (n.*657C>A) c.4401C>A (p.Ala1467=) n.9581C>A n.3046C>A c.5241C>A (p.Ala1747=) c.5325C>A (p.Ala1775=) c.5373C>A (p.Ala1791=) c.4347C>A (p.Ala1449=) c.3928C>A c.3489C>A (p.Ala1163=) c.*1306C>A (n.*1306C>A) c.4642C>A c.5415C>A (p.Ala1805=) c.5412C>A (p.Ala1804=) c.5367C>A (p.Ala1789=) c.4491C>A (p.Ala1497=) c.4260C>A (p.Ala1420=) | |
10 | g.94298584C>G | CA470986595 | PLCE1 | c.4449C>G (p.Ala1483=) c.*1916C>G (n.*1916C>G) n.2108C>G n.792C>G c.*657C>G (n.*657C>G) c.4401C>G (p.Ala1467=) n.9581C>G n.3046C>G c.5241C>G (p.Ala1747=) c.5325C>G (p.Ala1775=) c.5373C>G (p.Ala1791=) c.4347C>G (p.Ala1449=) c.3928C>G c.3489C>G (p.Ala1163=) c.*1306C>G (n.*1306C>G) c.4642C>G c.5415C>G (p.Ala1805=) c.5412C>G (p.Ala1804=) c.5367C>G (p.Ala1789=) c.4491C>G (p.Ala1497=) c.4260C>G (p.Ala1420=) | |
10 | g.94298584C>T | CA470986597 | PLCE1 | c.4449C>T (p.Ala1483=) c.*1916C>T (n.*1916C>T) n.2108C>T n.792C>T c.*657C>T (n.*657C>T) c.4401C>T (p.Ala1467=) n.9581C>T n.3046C>T c.5241C>T (p.Ala1747=) c.5325C>T (p.Ala1775=) c.5373C>T (p.Ala1791=) c.4347C>T (p.Ala1449=) c.3928C>T c.3489C>T (p.Ala1163=) c.*1306C>T (n.*1306C>T) c.4642C>T c.5415C>T (p.Ala1805=) c.5412C>T (p.Ala1804=) c.5367C>T (p.Ala1789=) c.4491C>T (p.Ala1497=) c.4260C>T (p.Ala1420=) | |
10 | g.94298585A>C | CA377642087 | PLCE1 | c.4450A>C (p.Thr1484Pro) c.*1917A>C (n.*1917A>C) n.2109A>C n.793A>C c.*658A>C (n.*658A>C) c.4402A>C (p.Thr1468Pro) n.9582A>C n.3047A>C c.5242A>C (p.Thr1748Pro) c.5326A>C (p.Thr1776Pro) c.5374A>C (p.Thr1792Pro) c.4348A>C (p.Thr1450Pro) c.3929A>C c.3490A>C (p.Thr1164Pro) c.*1307A>C (n.*1307A>C) c.4643A>C c.5416A>C (p.Thr1806Pro) c.5413A>C (p.Thr1805Pro) c.5368A>C (p.Thr1790Pro) c.4492A>C (p.Thr1498Pro) c.4261A>C (p.Thr1421Pro) | |
10 | g.94298585A>G | CA377642088 | PLCE1 | c.4450A>G (p.Thr1484Ala) c.*1917A>G (n.*1917A>G) n.2109A>G n.793A>G c.*658A>G (n.*658A>G) c.4402A>G (p.Thr1468Ala) n.9582A>G n.3047A>G c.5242A>G (p.Thr1748Ala) c.5326A>G (p.Thr1776Ala) c.5374A>G (p.Thr1792Ala) c.4348A>G (p.Thr1450Ala) c.3929A>G c.3490A>G (p.Thr1164Ala) c.*1307A>G (n.*1307A>G) c.4643A>G c.5416A>G (p.Thr1806Ala) c.5413A>G (p.Thr1805Ala) c.5368A>G (p.Thr1790Ala) c.4492A>G (p.Thr1498Ala) c.4261A>G (p.Thr1421Ala) | |
10 | g.94298585A>T | CA377642089 | PLCE1 | c.4450A>T (p.Thr1484Ser) c.*1917A>T (n.*1917A>T) n.2109A>T n.793A>T c.*658A>T (n.*658A>T) c.4402A>T (p.Thr1468Ser) n.9582A>T n.3047A>T c.5242A>T (p.Thr1748Ser) c.5326A>T (p.Thr1776Ser) c.5374A>T (p.Thr1792Ser) c.4348A>T (p.Thr1450Ser) c.3929A>T c.3490A>T (p.Thr1164Ser) c.*1307A>T (n.*1307A>T) c.4643A>T c.5416A>T (p.Thr1806Ser) c.5413A>T (p.Thr1805Ser) c.5368A>T (p.Thr1790Ser) c.4492A>T (p.Thr1498Ser) c.4261A>T (p.Thr1421Ser) | |
10 | g.94298586C>A | CA377642090 | PLCE1 | c.4451C>A (p.Thr1484Asn) c.*1918C>A (n.*1918C>A) n.2110C>A n.794C>A c.*659C>A (n.*659C>A) c.4403C>A (p.Thr1468Asn) n.9583C>A n.3048C>A c.5243C>A (p.Thr1748Asn) c.5327C>A (p.Thr1776Asn) c.5375C>A (p.Thr1792Asn) c.4349C>A (p.Thr1450Asn) c.3930C>A c.3491C>A (p.Thr1164Asn) c.*1308C>A (n.*1308C>A) c.4644C>A c.5417C>A (p.Thr1806Asn) c.5414C>A (p.Thr1805Asn) c.5369C>A (p.Thr1790Asn) c.4493C>A (p.Thr1498Asn) c.4262C>A (p.Thr1421Asn) | |
10 | g.94298586C>G | CA377642091 | PLCE1 | c.4451C>G (p.Thr1484Ser) c.*1918C>G (n.*1918C>G) n.2110C>G n.794C>G c.*659C>G (n.*659C>G) c.4403C>G (p.Thr1468Ser) n.9583C>G n.3048C>G c.5243C>G (p.Thr1748Ser) c.5327C>G (p.Thr1776Ser) c.5375C>G (p.Thr1792Ser) c.4349C>G (p.Thr1450Ser) c.3930C>G c.3491C>G (p.Thr1164Ser) c.*1308C>G (n.*1308C>G) c.4644C>G c.5417C>G (p.Thr1806Ser) c.5414C>G (p.Thr1805Ser) c.5369C>G (p.Thr1790Ser) c.4493C>G (p.Thr1498Ser) c.4262C>G (p.Thr1421Ser) | |
10 | g.94298586C>T | CA377642092 | PLCE1 | c.4451C>T (p.Thr1484Ile) c.*1918C>T (n.*1918C>T) n.2110C>T n.794C>T c.*659C>T (n.*659C>T) c.4403C>T (p.Thr1468Ile) n.9583C>T n.3048C>T c.5243C>T (p.Thr1748Ile) c.5327C>T (p.Thr1776Ile) c.5375C>T (p.Thr1792Ile) c.4349C>T (p.Thr1450Ile) c.3930C>T c.3491C>T (p.Thr1164Ile) c.*1308C>T (n.*1308C>T) c.4644C>T c.5417C>T (p.Thr1806Ile) c.5414C>T (p.Thr1805Ile) c.5369C>T (p.Thr1790Ile) c.4493C>T (p.Thr1498Ile) c.4262C>T (p.Thr1421Ile) | |
10 | g.94298587C>A | CA470986599 | PLCE1 | c.4452C>A (p.Thr1484=) c.*1919C>A (n.*1919C>A) n.2111C>A n.795C>A c.*660C>A (n.*660C>A) c.4404C>A (p.Thr1468=) n.9584C>A n.3049C>A c.5244C>A (p.Thr1748=) c.5328C>A (p.Thr1776=) c.5376C>A (p.Thr1792=) c.4350C>A (p.Thr1450=) c.3931C>A c.3492C>A (p.Thr1164=) c.*1309C>A (n.*1309C>A) c.4645C>A c.5418C>A (p.Thr1806=) c.5415C>A (p.Thr1805=) c.5370C>A (p.Thr1790=) c.4494C>A (p.Thr1498=) c.4263C>A (p.Thr1421=) | |
10 | g.94298587C= | CA1928998446 | PLCE1 | c.4452C= (p.Thr1484=) c.*1919C= (n.*1919C=) n.2111C= n.795C= c.*660C= (n.*660C=) c.4404C= (p.Thr1468=) n.9584C= n.3049C= c.5244C= (p.Thr1748=) c.5328C= (p.Thr1776=) c.5376C= (p.Thr1792=) c.4350C= (p.Thr1450=) c.3931C= c.3492C= (p.Thr1164=) c.*1309C= (n.*1309C=) c.4645C= c.5418C= (p.Thr1806=) c.5415C= (p.Thr1805=) c.5370C= (p.Thr1790=) c.4494C= (p.Thr1498=) c.4263C= (p.Thr1421=) | |
10 | g.94298587C>G | CA470986600 | PLCE1 | c.4452C>G (p.Thr1484=) c.*1919C>G (n.*1919C>G) n.2111C>G n.795C>G c.*660C>G (n.*660C>G) c.4404C>G (p.Thr1468=) n.9584C>G n.3049C>G c.5244C>G (p.Thr1748=) c.5328C>G (p.Thr1776=) c.5376C>G (p.Thr1792=) c.4350C>G (p.Thr1450=) c.3931C>G c.3492C>G (p.Thr1164=) c.*1309C>G (n.*1309C>G) c.4645C>G c.5418C>G (p.Thr1806=) c.5415C>G (p.Thr1805=) c.5370C>G (p.Thr1790=) c.4494C>G (p.Thr1498=) c.4263C>G (p.Thr1421=) | |
10 | g.94298587C>T | CA5613348 | PLCE1 | c.4452C>T (p.Thr1484=) c.*1919C>T (n.*1919C>T) n.2111C>T n.795C>T c.*660C>T (n.*660C>T) c.4404C>T (p.Thr1468=) n.9584C>T n.3049C>T c.5244C>T (p.Thr1748=) c.5328C>T (p.Thr1776=) c.5376C>T (p.Thr1792=) c.4350C>T (p.Thr1450=) c.3931C>T c.3492C>T (p.Thr1164=) c.*1309C>T (n.*1309C>T) c.4645C>T c.5418C>T (p.Thr1806=) c.5415C>T (p.Thr1805=) c.5370C>T (p.Thr1790=) c.4494C>T (p.Thr1498=) c.4263C>T (p.Thr1421=) | dbSNP ExAC gnomAD v2 |
10 | g.94298588C>A | CA377642095 | PLCE1 | c.4453C>A (p.Arg1485Ser) c.*1920C>A (n.*1920C>A) n.2112C>A n.796C>A c.*661C>A (n.*661C>A) c.4405C>A (p.Arg1469Ser) n.9585C>A n.3050C>A c.5245C>A (p.Arg1749Ser) c.5329C>A (p.Arg1777Ser) c.5377C>A (p.Arg1793Ser) c.4351C>A (p.Arg1451Ser) c.3932C>A c.3493C>A (p.Arg1165Ser) c.*1310C>A (n.*1310C>A) c.4646C>A c.5419C>A (p.Arg1807Ser) c.5416C>A (p.Arg1806Ser) c.5371C>A (p.Arg1791Ser) c.4495C>A (p.Arg1499Ser) c.4264C>A (p.Arg1422Ser) | |
10 | g.94298588C= | CA1928998447 | PLCE1 | c.4453C= (p.Arg1485=) c.*1920C= (n.*1920C=) n.2112C= n.796C= c.*661C= (n.*661C=) c.4405C= (p.Arg1469=) n.9585C= n.3050C= c.5245C= (p.Arg1749=) c.5329C= (p.Arg1777=) c.5377C= (p.Arg1793=) c.4351C= (p.Arg1451=) c.3932C= c.3493C= (p.Arg1165=) c.*1310C= (n.*1310C=) c.4646C= c.5419C= (p.Arg1807=) c.5416C= (p.Arg1806=) c.5371C= (p.Arg1791=) c.4495C= (p.Arg1499=) c.4264C= (p.Arg1422=) | |
10 | g.94298588C>G | CA377642094 | PLCE1 | c.4453C>G (p.Arg1485Gly) c.*1920C>G (n.*1920C>G) n.2112C>G n.796C>G c.*661C>G (n.*661C>G) c.4405C>G (p.Arg1469Gly) n.9585C>G n.3050C>G c.5245C>G (p.Arg1749Gly) c.5329C>G (p.Arg1777Gly) c.5377C>G (p.Arg1793Gly) c.4351C>G (p.Arg1451Gly) c.3932C>G c.3493C>G (p.Arg1165Gly) c.*1310C>G (n.*1310C>G) c.4646C>G c.5419C>G (p.Arg1807Gly) c.5416C>G (p.Arg1806Gly) c.5371C>G (p.Arg1791Gly) c.4495C>G (p.Arg1499Gly) c.4264C>G (p.Arg1422Gly) | gnomAD v4 |
10 | g.94298588C>T | CA377642093 | PLCE1 | c.4453C>T (p.Arg1485Cys) c.*1920C>T (n.*1920C>T) n.2112C>T n.796C>T c.*661C>T (n.*661C>T) c.4405C>T (p.Arg1469Cys) n.9585C>T n.3050C>T c.5245C>T (p.Arg1749Cys) c.5329C>T (p.Arg1777Cys) c.5377C>T (p.Arg1793Cys) c.4351C>T (p.Arg1451Cys) c.3932C>T c.3493C>T (p.Arg1165Cys) c.*1310C>T (n.*1310C>T) c.4646C>T c.5419C>T (p.Arg1807Cys) c.5416C>T (p.Arg1806Cys) c.5371C>T (p.Arg1791Cys) c.4495C>T (p.Arg1499Cys) c.4264C>T (p.Arg1422Cys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298589G>A | CA377642096 | PLCE1 | c.4454G>A (p.Arg1485His) c.*1921G>A (n.*1921G>A) n.2113G>A n.797G>A c.*662G>A (n.*662G>A) c.4406G>A (p.Arg1469His) n.9586G>A n.3051G>A c.5246G>A (p.Arg1749His) c.5330G>A (p.Arg1777His) c.5378G>A (p.Arg1793His) c.4352G>A (p.Arg1451His) c.3933G>A c.3494G>A (p.Arg1165His) c.*1311G>A (n.*1311G>A) c.4647G>A c.5420G>A (p.Arg1807His) c.5417G>A (p.Arg1806His) c.5372G>A (p.Arg1791His) c.4496G>A (p.Arg1499His) c.4265G>A (p.Arg1422His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298589G>C | CA377642097 | PLCE1 | c.4454G>C (p.Arg1485Pro) c.*1921G>C (n.*1921G>C) n.2113G>C n.797G>C c.*662G>C (n.*662G>C) c.4406G>C (p.Arg1469Pro) n.9586G>C n.3051G>C c.5246G>C (p.Arg1749Pro) c.5330G>C (p.Arg1777Pro) c.5378G>C (p.Arg1793Pro) c.4352G>C (p.Arg1451Pro) c.3933G>C c.3494G>C (p.Arg1165Pro) c.*1311G>C (n.*1311G>C) c.4647G>C c.5420G>C (p.Arg1807Pro) c.5417G>C (p.Arg1806Pro) c.5372G>C (p.Arg1791Pro) c.4496G>C (p.Arg1499Pro) c.4265G>C (p.Arg1422Pro) | |
10 | g.94298589G= | CA1928998448 | PLCE1 | c.4454G= (p.Arg1485=) c.*1921G= (n.*1921G=) n.2113G= n.797G= c.*662G= (n.*662G=) c.4406G= (p.Arg1469=) n.9586G= n.3051G= c.5246G= (p.Arg1749=) c.5330G= (p.Arg1777=) c.5378G= (p.Arg1793=) c.4352G= (p.Arg1451=) c.3933G= c.3494G= (p.Arg1165=) c.*1311G= (n.*1311G=) c.4647G= c.5420G= (p.Arg1807=) c.5417G= (p.Arg1806=) c.5372G= (p.Arg1791=) c.4496G= (p.Arg1499=) c.4265G= (p.Arg1422=) | |
10 | g.94298589G>T | CA377642098 | PLCE1 | c.4454G>T (p.Arg1485Leu) c.*1921G>T (n.*1921G>T) n.2113G>T n.797G>T c.*662G>T (n.*662G>T) c.4406G>T (p.Arg1469Leu) n.9586G>T n.3051G>T c.5246G>T (p.Arg1749Leu) c.5330G>T (p.Arg1777Leu) c.5378G>T (p.Arg1793Leu) c.4352G>T (p.Arg1451Leu) c.3933G>T c.3494G>T (p.Arg1165Leu) c.*1311G>T (n.*1311G>T) c.4647G>T c.5420G>T (p.Arg1807Leu) c.5417G>T (p.Arg1806Leu) c.5372G>T (p.Arg1791Leu) c.4496G>T (p.Arg1499Leu) c.4265G>T (p.Arg1422Leu) | |
10 | g.94298590C>A | CA470986604 | PLCE1 | c.4455C>A (p.Arg1485=) c.*1922C>A (n.*1922C>A) n.2114C>A n.798C>A c.*663C>A (n.*663C>A) c.4407C>A (p.Arg1469=) n.9587C>A n.3052C>A c.5247C>A (p.Arg1749=) c.5331C>A (p.Arg1777=) c.5379C>A (p.Arg1793=) c.4353C>A (p.Arg1451=) c.3934C>A c.3495C>A (p.Arg1165=) c.*1312C>A (n.*1312C>A) c.4648C>A c.5421C>A (p.Arg1807=) c.5418C>A (p.Arg1806=) c.5373C>A (p.Arg1791=) c.4497C>A (p.Arg1499=) c.4266C>A (p.Arg1422=) | |
10 | g.94298590C>G | CA470986603 | PLCE1 | c.4455C>G (p.Arg1485=) c.*1922C>G (n.*1922C>G) n.2114C>G n.798C>G c.*663C>G (n.*663C>G) c.4407C>G (p.Arg1469=) n.9587C>G n.3052C>G c.5247C>G (p.Arg1749=) c.5331C>G (p.Arg1777=) c.5379C>G (p.Arg1793=) c.4353C>G (p.Arg1451=) c.3934C>G c.3495C>G (p.Arg1165=) c.*1312C>G (n.*1312C>G) c.4648C>G c.5421C>G (p.Arg1807=) c.5418C>G (p.Arg1806=) c.5373C>G (p.Arg1791=) c.4497C>G (p.Arg1499=) c.4266C>G (p.Arg1422=) | |
10 | g.94298590C>T | CA470986602 | PLCE1 | c.4455C>T (p.Arg1485=) c.*1922C>T (n.*1922C>T) n.2114C>T n.798C>T c.*663C>T (n.*663C>T) c.4407C>T (p.Arg1469=) n.9587C>T n.3052C>T c.5247C>T (p.Arg1749=) c.5331C>T (p.Arg1777=) c.5379C>T (p.Arg1793=) c.4353C>T (p.Arg1451=) c.3934C>T c.3495C>T (p.Arg1165=) c.*1312C>T (n.*1312C>T) c.4648C>T c.5421C>T (p.Arg1807=) c.5418C>T (p.Arg1806=) c.5373C>T (p.Arg1791=) c.4497C>T (p.Arg1499=) c.4266C>T (p.Arg1422=) | |
10 | g.94298591A>C | CA377642099 | PLCE1 | c.4456A>C (p.Ile1486Leu) c.*1923A>C (n.*1923A>C) n.2115A>C n.799A>C c.*664A>C (n.*664A>C) c.4408A>C (p.Ile1470Leu) n.9588A>C n.3053A>C c.5248A>C (p.Ile1750Leu) c.5332A>C (p.Ile1778Leu) c.5380A>C (p.Ile1794Leu) c.4354A>C (p.Ile1452Leu) c.3935A>C c.3496A>C (p.Ile1166Leu) c.*1313A>C (n.*1313A>C) c.4649A>C c.5422A>C (p.Ile1808Leu) c.5419A>C (p.Ile1807Leu) c.5374A>C (p.Ile1792Leu) c.4498A>C (p.Ile1500Leu) c.4267A>C (p.Ile1423Leu) | |
10 | g.94298591A>G | CA377642100 | PLCE1 | c.4456A>G (p.Ile1486Val) c.*1923A>G (n.*1923A>G) n.2115A>G n.799A>G c.*664A>G (n.*664A>G) c.4408A>G (p.Ile1470Val) n.9588A>G n.3053A>G c.5248A>G (p.Ile1750Val) c.5332A>G (p.Ile1778Val) c.5380A>G (p.Ile1794Val) c.4354A>G (p.Ile1452Val) c.3935A>G c.3496A>G (p.Ile1166Val) c.*1313A>G (n.*1313A>G) c.4649A>G c.5422A>G (p.Ile1808Val) c.5419A>G (p.Ile1807Val) c.5374A>G (p.Ile1792Val) c.4498A>G (p.Ile1500Val) c.4267A>G (p.Ile1423Val) | gnomAD v4 |
10 | g.94298591A>T | CA377642101 | PLCE1 | c.4456A>T (p.Ile1486Phe) c.*1923A>T (n.*1923A>T) n.2115A>T n.799A>T c.*664A>T (n.*664A>T) c.4408A>T (p.Ile1470Phe) n.9588A>T n.3053A>T c.5248A>T (p.Ile1750Phe) c.5332A>T (p.Ile1778Phe) c.5380A>T (p.Ile1794Phe) c.4354A>T (p.Ile1452Phe) c.3935A>T c.3496A>T (p.Ile1166Phe) c.*1313A>T (n.*1313A>T) c.4649A>T c.5422A>T (p.Ile1808Phe) c.5419A>T (p.Ile1807Phe) c.5374A>T (p.Ile1792Phe) c.4498A>T (p.Ile1500Phe) c.4267A>T (p.Ile1423Phe) | |
10 | g.94298592T>A | CA377642102 | PLCE1 | c.4457T>A (p.Ile1486Asn) c.*1924T>A (n.*1924T>A) n.2116T>A n.800T>A c.*665T>A (n.*665T>A) c.4409T>A (p.Ile1470Asn) n.9589T>A n.3054T>A c.5249T>A (p.Ile1750Asn) c.5333T>A (p.Ile1778Asn) c.5381T>A (p.Ile1794Asn) c.4355T>A (p.Ile1452Asn) c.3936T>A c.3497T>A (p.Ile1166Asn) c.*1314T>A (n.*1314T>A) c.4650T>A c.5423T>A (p.Ile1808Asn) c.5420T>A (p.Ile1807Asn) c.5375T>A (p.Ile1792Asn) c.4499T>A (p.Ile1500Asn) c.4268T>A (p.Ile1423Asn) | |
10 | g.94298592T>C | CA377642103 | PLCE1 | c.4457T>C (p.Ile1486Thr) c.*1924T>C (n.*1924T>C) n.2116T>C n.800T>C c.*665T>C (n.*665T>C) c.4409T>C (p.Ile1470Thr) n.9589T>C n.3054T>C c.5249T>C (p.Ile1750Thr) c.5333T>C (p.Ile1778Thr) c.5381T>C (p.Ile1794Thr) c.4355T>C (p.Ile1452Thr) c.3936T>C c.3497T>C (p.Ile1166Thr) c.*1314T>C (n.*1314T>C) c.4650T>C c.5423T>C (p.Ile1808Thr) c.5420T>C (p.Ile1807Thr) c.5375T>C (p.Ile1792Thr) c.4499T>C (p.Ile1500Thr) c.4268T>C (p.Ile1423Thr) | |
10 | g.94298592T>G | CA377642104 | PLCE1 | c.4457T>G (p.Ile1486Ser) c.*1924T>G (n.*1924T>G) n.2116T>G n.800T>G c.*665T>G (n.*665T>G) c.4409T>G (p.Ile1470Ser) n.9589T>G n.3054T>G c.5249T>G (p.Ile1750Ser) c.5333T>G (p.Ile1778Ser) c.5381T>G (p.Ile1794Ser) c.4355T>G (p.Ile1452Ser) c.3936T>G c.3497T>G (p.Ile1166Ser) c.*1314T>G (n.*1314T>G) c.4650T>G c.5423T>G (p.Ile1808Ser) c.5420T>G (p.Ile1807Ser) c.5375T>G (p.Ile1792Ser) c.4499T>G (p.Ile1500Ser) c.4268T>G (p.Ile1423Ser) | |
10 | g.94298593C>A | CA211599807 | PLCE1 | c.4458C>A (p.Ile1486=) c.*1925C>A (n.*1925C>A) n.2117C>A n.801C>A c.*666C>A (n.*666C>A) c.4410C>A (p.Ile1470=) n.9590C>A n.3055C>A c.5250C>A (p.Ile1750=) c.5334C>A (p.Ile1778=) c.5382C>A (p.Ile1794=) c.4356C>A (p.Ile1452=) c.3937C>A c.3498C>A (p.Ile1166=) c.*1315C>A (n.*1315C>A) c.4651C>A c.5424C>A (p.Ile1808=) c.5421C>A (p.Ile1807=) c.5376C>A (p.Ile1792=) c.4500C>A (p.Ile1500=) c.4269C>A (p.Ile1423=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298593C= | CA1928998449 | PLCE1 | c.4458C= (p.Ile1486=) c.*1925C= (n.*1925C=) n.2117C= n.801C= c.*666C= (n.*666C=) c.4410C= (p.Ile1470=) n.9590C= n.3055C= c.5250C= (p.Ile1750=) c.5334C= (p.Ile1778=) c.5382C= (p.Ile1794=) c.4356C= (p.Ile1452=) c.3937C= c.3498C= (p.Ile1166=) c.*1315C= (n.*1315C=) c.4651C= c.5424C= (p.Ile1808=) c.5421C= (p.Ile1807=) c.5376C= (p.Ile1792=) c.4500C= (p.Ile1500=) c.4269C= (p.Ile1423=) | |
10 | g.94298593C>G | CA377642105 | PLCE1 | c.4458C>G (p.Ile1486Met) c.*1925C>G (n.*1925C>G) n.2117C>G n.801C>G c.*666C>G (n.*666C>G) c.4410C>G (p.Ile1470Met) n.9590C>G n.3055C>G c.5250C>G (p.Ile1750Met) c.5334C>G (p.Ile1778Met) c.5382C>G (p.Ile1794Met) c.4356C>G (p.Ile1452Met) c.3937C>G c.3498C>G (p.Ile1166Met) c.*1315C>G (n.*1315C>G) c.4651C>G c.5424C>G (p.Ile1808Met) c.5421C>G (p.Ile1807Met) c.5376C>G (p.Ile1792Met) c.4500C>G (p.Ile1500Met) c.4269C>G (p.Ile1423Met) | |
10 | g.94298593C>T | CA5613349 | PLCE1 | c.4458C>T (p.Ile1486=) c.*1925C>T (n.*1925C>T) n.2117C>T n.801C>T c.*666C>T (n.*666C>T) c.4410C>T (p.Ile1470=) n.9590C>T n.3055C>T c.5250C>T (p.Ile1750=) c.5334C>T (p.Ile1778=) c.5382C>T (p.Ile1794=) c.4356C>T (p.Ile1452=) c.3937C>T c.3498C>T (p.Ile1166=) c.*1315C>T (n.*1315C>T) c.4651C>T c.5424C>T (p.Ile1808=) c.5421C>T (p.Ile1807=) c.5376C>T (p.Ile1792=) c.4500C>T (p.Ile1500=) c.4269C>T (p.Ile1423=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298594G>A | CA377642108 | PLCE1 | c.4459G>A (p.Asp1487Asn) c.*1926G>A (n.*1926G>A) n.2118G>A n.802G>A c.*667G>A (n.*667G>A) c.4411G>A (p.Asp1471Asn) n.9591G>A n.3056G>A c.5251G>A (p.Asp1751Asn) c.5335G>A (p.Asp1779Asn) c.5383G>A (p.Asp1795Asn) c.4357G>A (p.Asp1453Asn) c.3938G>A c.3499G>A (p.Asp1167Asn) c.*1316G>A (n.*1316G>A) c.4652G>A c.5425G>A (p.Asp1809Asn) c.5422G>A (p.Asp1808Asn) c.5377G>A (p.Asp1793Asn) c.4501G>A (p.Asp1501Asn) c.4270G>A (p.Asp1424Asn) | dbSNP |
10 | g.94298594G>C | CA377642106 | PLCE1 | c.4459G>C (p.Asp1487His) c.*1926G>C (n.*1926G>C) n.2118G>C n.802G>C c.*667G>C (n.*667G>C) c.4411G>C (p.Asp1471His) n.9591G>C n.3056G>C c.5251G>C (p.Asp1751His) c.5335G>C (p.Asp1779His) c.5383G>C (p.Asp1795His) c.4357G>C (p.Asp1453His) c.3938G>C c.3499G>C (p.Asp1167His) c.*1316G>C (n.*1316G>C) c.4652G>C c.5425G>C (p.Asp1809His) c.5422G>C (p.Asp1808His) c.5377G>C (p.Asp1793His) c.4501G>C (p.Asp1501His) c.4270G>C (p.Asp1424His) | ClinVar |
10 | g.94298594G= | CA1928998450 | PLCE1 | c.4459G= (p.Asp1487=) c.*1926G= (n.*1926G=) n.2118G= n.802G= c.*667G= (n.*667G=) c.4411G= (p.Asp1471=) n.9591G= n.3056G= c.5251G= (p.Asp1751=) c.5335G= (p.Asp1779=) c.5383G= (p.Asp1795=) c.4357G= (p.Asp1453=) c.3938G= c.3499G= (p.Asp1167=) c.*1316G= (n.*1316G=) c.4652G= c.5425G= (p.Asp1809=) c.5422G= (p.Asp1808=) c.5377G= (p.Asp1793=) c.4501G= (p.Asp1501=) c.4270G= (p.Asp1424=) | |
10 | g.94298594G>T | CA377642107 | PLCE1 | c.4459G>T (p.Asp1487Tyr) c.*1926G>T (n.*1926G>T) n.2118G>T n.802G>T c.*667G>T (n.*667G>T) c.4411G>T (p.Asp1471Tyr) n.9591G>T n.3056G>T c.5251G>T (p.Asp1751Tyr) c.5335G>T (p.Asp1779Tyr) c.5383G>T (p.Asp1795Tyr) c.4357G>T (p.Asp1453Tyr) c.3938G>T c.3499G>T (p.Asp1167Tyr) c.*1316G>T (n.*1316G>T) c.4652G>T c.5425G>T (p.Asp1809Tyr) c.5422G>T (p.Asp1808Tyr) c.5377G>T (p.Asp1793Tyr) c.4501G>T (p.Asp1501Tyr) c.4270G>T (p.Asp1424Tyr) | |
10 | g.94298595A>C | CA377642109 | PLCE1 | c.4460A>C (p.Asp1487Ala) c.*1927A>C (n.*1927A>C) n.2119A>C n.803A>C c.*668A>C (n.*668A>C) c.4412A>C (p.Asp1471Ala) n.9592A>C n.3057A>C c.5252A>C (p.Asp1751Ala) c.5336A>C (p.Asp1779Ala) c.5384A>C (p.Asp1795Ala) c.4358A>C (p.Asp1453Ala) c.3939A>C c.3500A>C (p.Asp1167Ala) c.*1317A>C (n.*1317A>C) c.4653A>C c.5426A>C (p.Asp1809Ala) c.5423A>C (p.Asp1808Ala) c.5378A>C (p.Asp1793Ala) c.4502A>C (p.Asp1501Ala) c.4271A>C (p.Asp1424Ala) | |
10 | g.94298595A>G | CA377642110 | PLCE1 | c.4460A>G (p.Asp1487Gly) c.*1927A>G (n.*1927A>G) n.2119A>G n.803A>G c.*668A>G (n.*668A>G) c.4412A>G (p.Asp1471Gly) n.9592A>G n.3057A>G c.5252A>G (p.Asp1751Gly) c.5336A>G (p.Asp1779Gly) c.5384A>G (p.Asp1795Gly) c.4358A>G (p.Asp1453Gly) c.3939A>G c.3500A>G (p.Asp1167Gly) c.*1317A>G (n.*1317A>G) c.4653A>G c.5426A>G (p.Asp1809Gly) c.5423A>G (p.Asp1808Gly) c.5378A>G (p.Asp1793Gly) c.4502A>G (p.Asp1501Gly) c.4271A>G (p.Asp1424Gly) | |
10 | g.94298595A>T | CA377642111 | PLCE1 | c.4460A>T (p.Asp1487Val) c.*1927A>T (n.*1927A>T) n.2119A>T n.803A>T c.*668A>T (n.*668A>T) c.4412A>T (p.Asp1471Val) n.9592A>T n.3057A>T c.5252A>T (p.Asp1751Val) c.5336A>T (p.Asp1779Val) c.5384A>T (p.Asp1795Val) c.4358A>T (p.Asp1453Val) c.3939A>T c.3500A>T (p.Asp1167Val) c.*1317A>T (n.*1317A>T) c.4653A>T c.5426A>T (p.Asp1809Val) c.5423A>T (p.Asp1808Val) c.5378A>T (p.Asp1793Val) c.4502A>T (p.Asp1501Val) c.4271A>T (p.Asp1424Val) | |
10 | g.94298596C>A | CA377642112 | PLCE1 | c.4461C>A (p.Asp1487Glu) c.*1928C>A (n.*1928C>A) n.2120C>A n.804C>A c.*669C>A (n.*669C>A) c.4413C>A (p.Asp1471Glu) n.9593C>A n.3058C>A c.5253C>A (p.Asp1751Glu) c.5337C>A (p.Asp1779Glu) c.5385C>A (p.Asp1795Glu) c.4359C>A (p.Asp1453Glu) c.3940C>A c.3501C>A (p.Asp1167Glu) c.*1318C>A (n.*1318C>A) c.4654C>A c.5427C>A (p.Asp1809Glu) c.5424C>A (p.Asp1808Glu) c.5379C>A (p.Asp1793Glu) c.4503C>A (p.Asp1501Glu) c.4272C>A (p.Asp1424Glu) | dbSNP |
10 | g.94298596C= | CA1928998451 | PLCE1 | c.4461C= (p.Asp1487=) c.*1928C= (n.*1928C=) n.2120C= n.804C= c.*669C= (n.*669C=) c.4413C= (p.Asp1471=) n.9593C= n.3058C= c.5253C= (p.Asp1751=) c.5337C= (p.Asp1779=) c.5385C= (p.Asp1795=) c.4359C= (p.Asp1453=) c.3940C= c.3501C= (p.Asp1167=) c.*1318C= (n.*1318C=) c.4654C= c.5427C= (p.Asp1809=) c.5424C= (p.Asp1808=) c.5379C= (p.Asp1793=) c.4503C= (p.Asp1501=) c.4272C= (p.Asp1424=) | |
10 | g.94298596C>G | CA377642113 | PLCE1 | c.4461C>G (p.Asp1487Glu) c.*1928C>G (n.*1928C>G) n.2120C>G n.804C>G c.*669C>G (n.*669C>G) c.4413C>G (p.Asp1471Glu) n.9593C>G n.3058C>G c.5253C>G (p.Asp1751Glu) c.5337C>G (p.Asp1779Glu) c.5385C>G (p.Asp1795Glu) c.4359C>G (p.Asp1453Glu) c.3940C>G c.3501C>G (p.Asp1167Glu) c.*1318C>G (n.*1318C>G) c.4654C>G c.5427C>G (p.Asp1809Glu) c.5424C>G (p.Asp1808Glu) c.5379C>G (p.Asp1793Glu) c.4503C>G (p.Asp1501Glu) c.4272C>G (p.Asp1424Glu) | gnomAD v4 |
10 | g.94298596C>T | CA470986608 | PLCE1 | c.4461C>T (p.Asp1487=) c.*1928C>T (n.*1928C>T) n.2120C>T n.804C>T c.*669C>T (n.*669C>T) c.4413C>T (p.Asp1471=) n.9593C>T n.3058C>T c.5253C>T (p.Asp1751=) c.5337C>T (p.Asp1779=) c.5385C>T (p.Asp1795=) c.4359C>T (p.Asp1453=) c.3940C>T c.3501C>T (p.Asp1167=) c.*1318C>T (n.*1318C>T) c.4654C>T c.5427C>T (p.Asp1809=) c.5424C>T (p.Asp1808=) c.5379C>T (p.Asp1793=) c.4503C>T (p.Asp1501=) c.4272C>T (p.Asp1424=) | |
10 | g.94298597T>A | CA377642114 | PLCE1 | c.4462T>A (p.Ser1488Thr) c.*1929T>A (n.*1929T>A) n.2121T>A n.805T>A c.*670T>A (n.*670T>A) c.4414T>A (p.Ser1472Thr) n.9594T>A n.3059T>A c.5254T>A (p.Ser1752Thr) c.5338T>A (p.Ser1780Thr) c.5386T>A (p.Ser1796Thr) c.4360T>A (p.Ser1454Thr) c.3941T>A c.3502T>A (p.Ser1168Thr) c.*1319T>A (n.*1319T>A) c.4655T>A c.5428T>A (p.Ser1810Thr) c.5425T>A (p.Ser1809Thr) c.5380T>A (p.Ser1794Thr) c.4504T>A (p.Ser1502Thr) c.4273T>A (p.Ser1425Thr) | |
10 | g.94298597T>C | CA377642115 | PLCE1 | c.4462T>C (p.Ser1488Pro) c.*1929T>C (n.*1929T>C) n.2121T>C n.805T>C c.*670T>C (n.*670T>C) c.4414T>C (p.Ser1472Pro) n.9594T>C n.3059T>C c.5254T>C (p.Ser1752Pro) c.5338T>C (p.Ser1780Pro) c.5386T>C (p.Ser1796Pro) c.4360T>C (p.Ser1454Pro) c.3941T>C c.3502T>C (p.Ser1168Pro) c.*1319T>C (n.*1319T>C) c.4655T>C c.5428T>C (p.Ser1810Pro) c.5425T>C (p.Ser1809Pro) c.5380T>C (p.Ser1794Pro) c.4504T>C (p.Ser1502Pro) c.4273T>C (p.Ser1425Pro) | |
10 | g.94298597T>G | CA377642116 | PLCE1 | c.4462T>G (p.Ser1488Ala) c.*1929T>G (n.*1929T>G) n.2121T>G n.805T>G c.*670T>G (n.*670T>G) c.4414T>G (p.Ser1472Ala) n.9594T>G n.3059T>G c.5254T>G (p.Ser1752Ala) c.5338T>G (p.Ser1780Ala) c.5386T>G (p.Ser1796Ala) c.4360T>G (p.Ser1454Ala) c.3941T>G c.3502T>G (p.Ser1168Ala) c.*1319T>G (n.*1319T>G) c.4655T>G c.5428T>G (p.Ser1810Ala) c.5425T>G (p.Ser1809Ala) c.5380T>G (p.Ser1794Ala) c.4504T>G (p.Ser1502Ala) c.4273T>G (p.Ser1425Ala) | |
10 | g.94298598C>A | CA377642117 | PLCE1 | c.4463C>A (p.Ser1488Tyr) c.*1930C>A (n.*1930C>A) n.2122C>A n.806C>A c.*671C>A (n.*671C>A) c.4415C>A (p.Ser1472Tyr) n.9595C>A n.3060C>A c.5255C>A (p.Ser1752Tyr) c.5339C>A (p.Ser1780Tyr) c.5387C>A (p.Ser1796Tyr) c.4361C>A (p.Ser1454Tyr) c.3942C>A c.3503C>A (p.Ser1168Tyr) c.*1320C>A (n.*1320C>A) c.4656C>A c.5429C>A (p.Ser1810Tyr) c.5426C>A (p.Ser1809Tyr) c.5381C>A (p.Ser1794Tyr) c.4505C>A (p.Ser1502Tyr) c.4274C>A (p.Ser1425Tyr) | |
10 | g.94298598C>G | CA377642118 | PLCE1 | c.4463C>G (p.Ser1488Cys) c.*1930C>G (n.*1930C>G) n.2122C>G n.806C>G c.*671C>G (n.*671C>G) c.4415C>G (p.Ser1472Cys) n.9595C>G n.3060C>G c.5255C>G (p.Ser1752Cys) c.5339C>G (p.Ser1780Cys) c.5387C>G (p.Ser1796Cys) c.4361C>G (p.Ser1454Cys) c.3942C>G c.3503C>G (p.Ser1168Cys) c.*1320C>G (n.*1320C>G) c.4656C>G c.5429C>G (p.Ser1810Cys) c.5426C>G (p.Ser1809Cys) c.5381C>G (p.Ser1794Cys) c.4505C>G (p.Ser1502Cys) c.4274C>G (p.Ser1425Cys) | |
10 | g.94298598C>T | CA377642119 | PLCE1 | c.4463C>T (p.Ser1488Phe) c.*1930C>T (n.*1930C>T) n.2122C>T n.806C>T c.*671C>T (n.*671C>T) c.4415C>T (p.Ser1472Phe) n.9595C>T n.3060C>T c.5255C>T (p.Ser1752Phe) c.5339C>T (p.Ser1780Phe) c.5387C>T (p.Ser1796Phe) c.4361C>T (p.Ser1454Phe) c.3942C>T c.3503C>T (p.Ser1168Phe) c.*1320C>T (n.*1320C>T) c.4656C>T c.5429C>T (p.Ser1810Phe) c.5426C>T (p.Ser1809Phe) c.5381C>T (p.Ser1794Phe) c.4505C>T (p.Ser1502Phe) c.4274C>T (p.Ser1425Phe) | |
10 | g.94298599T>A | CA470986609 | PLCE1 | c.4464T>A (p.Ser1488=) c.*1931T>A (n.*1931T>A) n.2123T>A n.807T>A c.*672T>A (n.*672T>A) c.4416T>A (p.Ser1472=) n.9596T>A n.3061T>A c.5256T>A (p.Ser1752=) c.5340T>A (p.Ser1780=) c.5388T>A (p.Ser1796=) c.4362T>A (p.Ser1454=) c.3943T>A c.3504T>A (p.Ser1168=) c.*1321T>A (n.*1321T>A) c.4657T>A c.5430T>A (p.Ser1810=) c.5427T>A (p.Ser1809=) c.5382T>A (p.Ser1794=) c.4506T>A (p.Ser1502=) c.4275T>A (p.Ser1425=) | |
10 | g.94298599T>C | CA470986611 | PLCE1 | c.4464T>C (p.Ser1488=) c.*1931T>C (n.*1931T>C) n.2123T>C n.807T>C c.*672T>C (n.*672T>C) c.4416T>C (p.Ser1472=) n.9596T>C n.3061T>C c.5256T>C (p.Ser1752=) c.5340T>C (p.Ser1780=) c.5388T>C (p.Ser1796=) c.4362T>C (p.Ser1454=) c.3943T>C c.3504T>C (p.Ser1168=) c.*1321T>C (n.*1321T>C) c.4657T>C c.5430T>C (p.Ser1810=) c.5427T>C (p.Ser1809=) c.5382T>C (p.Ser1794=) c.4506T>C (p.Ser1502=) c.4275T>C (p.Ser1425=) | |
10 | g.94298599T>G | CA470986612 | PLCE1 | c.4464T>G (p.Ser1488=) c.*1931T>G (n.*1931T>G) n.2123T>G n.807T>G c.*672T>G (n.*672T>G) c.4416T>G (p.Ser1472=) n.9596T>G n.3061T>G c.5256T>G (p.Ser1752=) c.5340T>G (p.Ser1780=) c.5388T>G (p.Ser1796=) c.4362T>G (p.Ser1454=) c.3943T>G c.3504T>G (p.Ser1168=) c.*1321T>G (n.*1321T>G) c.4657T>G c.5430T>G (p.Ser1810=) c.5427T>G (p.Ser1809=) c.5382T>G (p.Ser1794=) c.4506T>G (p.Ser1502=) c.4275T>G (p.Ser1425=) | |
10 | g.94298600T>A | CA377642122 | PLCE1 | c.4465T>A (p.Ser1489Thr) c.*1932T>A (n.*1932T>A) n.2124T>A n.808T>A c.*673T>A (n.*673T>A) c.4417T>A (p.Ser1473Thr) n.9597T>A n.3062T>A c.5257T>A (p.Ser1753Thr) c.5341T>A (p.Ser1781Thr) c.5389T>A (p.Ser1797Thr) c.4363T>A (p.Ser1455Thr) c.3944T>A c.3505T>A (p.Ser1169Thr) c.*1322T>A (n.*1322T>A) c.4658T>A c.5431T>A (p.Ser1811Thr) c.5428T>A (p.Ser1810Thr) c.5383T>A (p.Ser1795Thr) c.4507T>A (p.Ser1503Thr) c.4276T>A (p.Ser1426Thr) | |
10 | g.94298600T>C | CA377642121 | PLCE1 | c.4465T>C (p.Ser1489Pro) c.*1932T>C (n.*1932T>C) n.2124T>C n.808T>C c.*673T>C (n.*673T>C) c.4417T>C (p.Ser1473Pro) n.9597T>C n.3062T>C c.5257T>C (p.Ser1753Pro) c.5341T>C (p.Ser1781Pro) c.5389T>C (p.Ser1797Pro) c.4363T>C (p.Ser1455Pro) c.3944T>C c.3505T>C (p.Ser1169Pro) c.*1322T>C (n.*1322T>C) c.4658T>C c.5431T>C (p.Ser1811Pro) c.5428T>C (p.Ser1810Pro) c.5383T>C (p.Ser1795Pro) c.4507T>C (p.Ser1503Pro) c.4276T>C (p.Ser1426Pro) | |
10 | g.94298600T>G | CA377642120 | PLCE1 | c.4465T>G (p.Ser1489Ala) c.*1932T>G (n.*1932T>G) n.2124T>G n.808T>G c.*673T>G (n.*673T>G) c.4417T>G (p.Ser1473Ala) n.9597T>G n.3062T>G c.5257T>G (p.Ser1753Ala) c.5341T>G (p.Ser1781Ala) c.5389T>G (p.Ser1797Ala) c.4363T>G (p.Ser1455Ala) c.3944T>G c.3505T>G (p.Ser1169Ala) c.*1322T>G (n.*1322T>G) c.4658T>G c.5431T>G (p.Ser1811Ala) c.5428T>G (p.Ser1810Ala) c.5383T>G (p.Ser1795Ala) c.4507T>G (p.Ser1503Ala) c.4276T>G (p.Ser1426Ala) | dbSNP |
10 | g.94298600T= | CA1928998452 | PLCE1 | c.4465T= (p.Ser1489=) c.*1932T= (n.*1932T=) n.2124T= n.808T= c.*673T= (n.*673T=) c.4417T= (p.Ser1473=) n.9597T= n.3062T= c.5257T= (p.Ser1753=) c.5341T= (p.Ser1781=) c.5389T= (p.Ser1797=) c.4363T= (p.Ser1455=) c.3944T= c.3505T= (p.Ser1169=) c.*1322T= (n.*1322T=) c.4658T= c.5431T= (p.Ser1811=) c.5428T= (p.Ser1810=) c.5383T= (p.Ser1795=) c.4507T= (p.Ser1503=) c.4276T= (p.Ser1426=) | |
10 | g.94298601C>A | CA377642123 | PLCE1 | c.4466C>A (p.Ser1489Tyr) c.*1933C>A (n.*1933C>A) n.2125C>A n.809C>A c.*674C>A (n.*674C>A) c.4418C>A (p.Ser1473Tyr) n.9598C>A n.3063C>A c.5258C>A (p.Ser1753Tyr) c.5342C>A (p.Ser1781Tyr) c.5390C>A (p.Ser1797Tyr) c.4364C>A (p.Ser1455Tyr) c.3945C>A c.3506C>A (p.Ser1169Tyr) c.*1323C>A (n.*1323C>A) c.4659C>A c.5432C>A (p.Ser1811Tyr) c.5429C>A (p.Ser1810Tyr) c.5384C>A (p.Ser1795Tyr) c.4508C>A (p.Ser1503Tyr) c.4277C>A (p.Ser1426Tyr) | |
10 | g.94298601C= | CA1928998453 | PLCE1 | c.4466C= (p.Ser1489=) c.*1933C= (n.*1933C=) n.2125C= n.809C= c.*674C= (n.*674C=) c.4418C= (p.Ser1473=) n.9598C= n.3063C= c.5258C= (p.Ser1753=) c.5342C= (p.Ser1781=) c.5390C= (p.Ser1797=) c.4364C= (p.Ser1455=) c.3945C= c.3506C= (p.Ser1169=) c.*1323C= (n.*1323C=) c.4659C= c.5432C= (p.Ser1811=) c.5429C= (p.Ser1810=) c.5384C= (p.Ser1795=) c.4508C= (p.Ser1503=) c.4277C= (p.Ser1426=) | |
10 | g.94298601C>G | CA5613350 | PLCE1 | c.4466C>G (p.Ser1489Cys) c.*1933C>G (n.*1933C>G) n.2125C>G n.809C>G c.*674C>G (n.*674C>G) c.4418C>G (p.Ser1473Cys) n.9598C>G n.3063C>G c.5258C>G (p.Ser1753Cys) c.5342C>G (p.Ser1781Cys) c.5390C>G (p.Ser1797Cys) c.4364C>G (p.Ser1455Cys) c.3945C>G c.3506C>G (p.Ser1169Cys) c.*1323C>G (n.*1323C>G) c.4659C>G c.5432C>G (p.Ser1811Cys) c.5429C>G (p.Ser1810Cys) c.5384C>G (p.Ser1795Cys) c.4508C>G (p.Ser1503Cys) c.4277C>G (p.Ser1426Cys) | dbSNP ExAC gnomAD v2 |
10 | g.94298601C>T | CA377642124 | PLCE1 | c.4466C>T (p.Ser1489Phe) c.*1933C>T (n.*1933C>T) n.2125C>T n.809C>T c.*674C>T (n.*674C>T) c.4418C>T (p.Ser1473Phe) n.9598C>T n.3063C>T c.5258C>T (p.Ser1753Phe) c.5342C>T (p.Ser1781Phe) c.5390C>T (p.Ser1797Phe) c.4364C>T (p.Ser1455Phe) c.3945C>T c.3506C>T (p.Ser1169Phe) c.*1323C>T (n.*1323C>T) c.4659C>T c.5432C>T (p.Ser1811Phe) c.5429C>T (p.Ser1810Phe) c.5384C>T (p.Ser1795Phe) c.4508C>T (p.Ser1503Phe) c.4277C>T (p.Ser1426Phe) | |
10 | g.94298602C>A | CA470986613 | PLCE1 | c.4467C>A (p.Ser1489=) c.*1934C>A (n.*1934C>A) n.2126C>A n.810C>A c.*675C>A (n.*675C>A) c.4419C>A (p.Ser1473=) n.9599C>A n.3064C>A c.5259C>A (p.Ser1753=) c.5343C>A (p.Ser1781=) c.5391C>A (p.Ser1797=) c.4365C>A (p.Ser1455=) c.3946C>A c.3507C>A (p.Ser1169=) c.*1324C>A (n.*1324C>A) c.4660C>A c.5433C>A (p.Ser1811=) c.5430C>A (p.Ser1810=) c.5385C>A (p.Ser1795=) c.4509C>A (p.Ser1503=) c.4278C>A (p.Ser1426=) | |
10 | g.94298602C>G | CA470986614 | PLCE1 | c.4467C>G (p.Ser1489=) c.*1934C>G (n.*1934C>G) n.2126C>G n.810C>G c.*675C>G (n.*675C>G) c.4419C>G (p.Ser1473=) n.9599C>G n.3064C>G c.5259C>G (p.Ser1753=) c.5343C>G (p.Ser1781=) c.5391C>G (p.Ser1797=) c.4365C>G (p.Ser1455=) c.3946C>G c.3507C>G (p.Ser1169=) c.*1324C>G (n.*1324C>G) c.4660C>G c.5433C>G (p.Ser1811=) c.5430C>G (p.Ser1810=) c.5385C>G (p.Ser1795=) c.4509C>G (p.Ser1503=) c.4278C>G (p.Ser1426=) | gnomAD v4 |
10 | g.94298602C>T | CA470986615 | PLCE1 | c.4467C>T (p.Ser1489=) c.*1934C>T (n.*1934C>T) n.2126C>T n.810C>T c.*675C>T (n.*675C>T) c.4419C>T (p.Ser1473=) n.9599C>T n.3064C>T c.5259C>T (p.Ser1753=) c.5343C>T (p.Ser1781=) c.5391C>T (p.Ser1797=) c.4365C>T (p.Ser1455=) c.3946C>T c.3507C>T (p.Ser1169=) c.*1324C>T (n.*1324C>T) c.4660C>T c.5433C>T (p.Ser1811=) c.5430C>T (p.Ser1810=) c.5385C>T (p.Ser1795=) c.4509C>T (p.Ser1503=) c.4278C>T (p.Ser1426=) | |
10 | g.94298603A>C | CA377642125 | PLCE1 | c.4468A>C (p.Asn1490His) c.*1935A>C (n.*1935A>C) n.2127A>C n.811A>C c.*676A>C (n.*676A>C) c.4420A>C (p.Asn1474His) n.9600A>C n.3065A>C c.5260A>C (p.Asn1754His) c.5344A>C (p.Asn1782His) c.5392A>C (p.Asn1798His) c.4366A>C (p.Asn1456His) c.3947A>C c.3508A>C (p.Asn1170His) c.*1325A>C (n.*1325A>C) c.4661A>C c.5434A>C (p.Asn1812His) c.5431A>C (p.Asn1811His) c.5386A>C (p.Asn1796His) c.4510A>C (p.Asn1504His) c.4279A>C (p.Asn1427His) | |
10 | g.94298603A>G | CA377642126 | PLCE1 | c.4468A>G (p.Asn1490Asp) c.*1935A>G (n.*1935A>G) n.2127A>G n.811A>G c.*676A>G (n.*676A>G) c.4420A>G (p.Asn1474Asp) n.9600A>G n.3065A>G c.5260A>G (p.Asn1754Asp) c.5344A>G (p.Asn1782Asp) c.5392A>G (p.Asn1798Asp) c.4366A>G (p.Asn1456Asp) c.3947A>G c.3508A>G (p.Asn1170Asp) c.*1325A>G (n.*1325A>G) c.4661A>G c.5434A>G (p.Asn1812Asp) c.5431A>G (p.Asn1811Asp) c.5386A>G (p.Asn1796Asp) c.4510A>G (p.Asn1504Asp) c.4279A>G (p.Asn1427Asp) | |
10 | g.94298603A>T | CA377642127 | PLCE1 | c.4468A>T (p.Asn1490Tyr) c.*1935A>T (n.*1935A>T) n.2127A>T n.811A>T c.*676A>T (n.*676A>T) c.4420A>T (p.Asn1474Tyr) n.9600A>T n.3065A>T c.5260A>T (p.Asn1754Tyr) c.5344A>T (p.Asn1782Tyr) c.5392A>T (p.Asn1798Tyr) c.4366A>T (p.Asn1456Tyr) c.3947A>T c.3508A>T (p.Asn1170Tyr) c.*1325A>T (n.*1325A>T) c.4661A>T c.5434A>T (p.Asn1812Tyr) c.5431A>T (p.Asn1811Tyr) c.5386A>T (p.Asn1796Tyr) c.4510A>T (p.Asn1504Tyr) c.4279A>T (p.Asn1427Tyr) | |
10 | g.94298604A>C | CA377642130 | PLCE1 | c.4469A>C (p.Asn1490Thr) c.*1936A>C (n.*1936A>C) n.2128A>C n.812A>C c.*677A>C (n.*677A>C) c.4421A>C (p.Asn1474Thr) n.9601A>C n.3066A>C c.5261A>C (p.Asn1754Thr) c.5345A>C (p.Asn1782Thr) c.5393A>C (p.Asn1798Thr) c.4367A>C (p.Asn1456Thr) c.3948A>C c.3509A>C (p.Asn1170Thr) c.*1326A>C (n.*1326A>C) c.4662A>C c.5435A>C (p.Asn1812Thr) c.5432A>C (p.Asn1811Thr) c.5387A>C (p.Asn1796Thr) c.4511A>C (p.Asn1504Thr) c.4280A>C (p.Asn1427Thr) | |
10 | g.94298604A>G | CA377642128 | PLCE1 | c.4469A>G (p.Asn1490Ser) c.*1936A>G (n.*1936A>G) n.2128A>G n.812A>G c.*677A>G (n.*677A>G) c.4421A>G (p.Asn1474Ser) n.9601A>G n.3066A>G c.5261A>G (p.Asn1754Ser) c.5345A>G (p.Asn1782Ser) c.5393A>G (p.Asn1798Ser) c.4367A>G (p.Asn1456Ser) c.3948A>G c.3509A>G (p.Asn1170Ser) c.*1326A>G (n.*1326A>G) c.4662A>G c.5435A>G (p.Asn1812Ser) c.5432A>G (p.Asn1811Ser) c.5387A>G (p.Asn1796Ser) c.4511A>G (p.Asn1504Ser) c.4280A>G (p.Asn1427Ser) | COSMIC COSMIC COSMIC |
10 | g.94298604A>T | CA377642129 | PLCE1 | c.4469A>T (p.Asn1490Ile) c.*1936A>T (n.*1936A>T) n.2128A>T n.812A>T c.*677A>T (n.*677A>T) c.4421A>T (p.Asn1474Ile) n.9601A>T n.3066A>T c.5261A>T (p.Asn1754Ile) c.5345A>T (p.Asn1782Ile) c.5393A>T (p.Asn1798Ile) c.4367A>T (p.Asn1456Ile) c.3948A>T c.3509A>T (p.Asn1170Ile) c.*1326A>T (n.*1326A>T) c.4662A>T c.5435A>T (p.Asn1812Ile) c.5432A>T (p.Asn1811Ile) c.5387A>T (p.Asn1796Ile) c.4511A>T (p.Asn1504Ile) c.4280A>T (p.Asn1427Ile) | |
10 | g.94298605C>A | CA377642131 | PLCE1 | c.4470C>A (p.Asn1490Lys) c.*1937C>A (n.*1937C>A) n.2129C>A n.813C>A c.*678C>A (n.*678C>A) c.4422C>A (p.Asn1474Lys) n.9602C>A n.3067C>A c.5262C>A (p.Asn1754Lys) c.5346C>A (p.Asn1782Lys) c.5394C>A (p.Asn1798Lys) c.4368C>A (p.Asn1456Lys) c.3949C>A c.3510C>A (p.Asn1170Lys) c.*1327C>A (n.*1327C>A) c.4663C>A c.5436C>A (p.Asn1812Lys) c.5433C>A (p.Asn1811Lys) c.5388C>A (p.Asn1796Lys) c.4512C>A (p.Asn1504Lys) c.4281C>A (p.Asn1427Lys) | |
10 | g.94298605C>G | CA377642132 | PLCE1 | c.4470C>G (p.Asn1490Lys) c.*1937C>G (n.*1937C>G) n.2129C>G n.813C>G c.*678C>G (n.*678C>G) c.4422C>G (p.Asn1474Lys) n.9602C>G n.3067C>G c.5262C>G (p.Asn1754Lys) c.5346C>G (p.Asn1782Lys) c.5394C>G (p.Asn1798Lys) c.4368C>G (p.Asn1456Lys) c.3949C>G c.3510C>G (p.Asn1170Lys) c.*1327C>G (n.*1327C>G) c.4663C>G c.5436C>G (p.Asn1812Lys) c.5433C>G (p.Asn1811Lys) c.5388C>G (p.Asn1796Lys) c.4512C>G (p.Asn1504Lys) c.4281C>G (p.Asn1427Lys) | |
10 | g.94298605C>T | CA470986617 | PLCE1 | c.4470C>T (p.Asn1490=) c.*1937C>T (n.*1937C>T) n.2129C>T n.813C>T c.*678C>T (n.*678C>T) c.4422C>T (p.Asn1474=) n.9602C>T n.3067C>T c.5262C>T (p.Asn1754=) c.5346C>T (p.Asn1782=) c.5394C>T (p.Asn1798=) c.4368C>T (p.Asn1456=) c.3949C>T c.3510C>T (p.Asn1170=) c.*1327C>T (n.*1327C>T) c.4663C>T c.5436C>T (p.Asn1812=) c.5433C>T (p.Asn1811=) c.5388C>T (p.Asn1796=) c.4512C>T (p.Asn1504=) c.4281C>T (p.Asn1427=) | |
10 | g.94298606C>A | CA377642133 | PLCE1 | c.4471C>A (p.Pro1491Thr) c.*1938C>A (n.*1938C>A) n.2130C>A n.814C>A c.*679C>A (n.*679C>A) c.4423C>A (p.Pro1475Thr) n.9603C>A n.3068C>A c.5263C>A (p.Pro1755Thr) c.5347C>A (p.Pro1783Thr) c.5395C>A (p.Pro1799Thr) c.4369C>A (p.Pro1457Thr) c.3950C>A c.3511C>A (p.Pro1171Thr) c.*1328C>A (n.*1328C>A) c.4664C>A c.5437C>A (p.Pro1813Thr) c.5434C>A (p.Pro1812Thr) c.5389C>A (p.Pro1797Thr) c.4513C>A (p.Pro1505Thr) c.4282C>A (p.Pro1428Thr) | |
10 | g.94298606C= | CA1928998454 | PLCE1 | c.4471C= (p.Pro1491=) c.*1938C= (n.*1938C=) n.2130C= n.814C= c.*679C= (n.*679C=) c.4423C= (p.Pro1475=) n.9603C= n.3068C= c.5263C= (p.Pro1755=) c.5347C= (p.Pro1783=) c.5395C= (p.Pro1799=) c.4369C= (p.Pro1457=) c.3950C= c.3511C= (p.Pro1171=) c.*1328C= (n.*1328C=) c.4664C= c.5437C= (p.Pro1813=) c.5434C= (p.Pro1812=) c.5389C= (p.Pro1797=) c.4513C= (p.Pro1505=) c.4282C= (p.Pro1428=) | |
10 | g.94298606C>G | CA377642134 | PLCE1 | c.4471C>G (p.Pro1491Ala) c.*1938C>G (n.*1938C>G) n.2130C>G n.814C>G c.*679C>G (n.*679C>G) c.4423C>G (p.Pro1475Ala) n.9603C>G n.3068C>G c.5263C>G (p.Pro1755Ala) c.5347C>G (p.Pro1783Ala) c.5395C>G (p.Pro1799Ala) c.4369C>G (p.Pro1457Ala) c.3950C>G c.3511C>G (p.Pro1171Ala) c.*1328C>G (n.*1328C>G) c.4664C>G c.5437C>G (p.Pro1813Ala) c.5434C>G (p.Pro1812Ala) c.5389C>G (p.Pro1797Ala) c.4513C>G (p.Pro1505Ala) c.4282C>G (p.Pro1428Ala) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298606C>T | CA377642135 | PLCE1 | c.4471C>T (p.Pro1491Ser) c.*1938C>T (n.*1938C>T) n.2130C>T n.814C>T c.*679C>T (n.*679C>T) c.4423C>T (p.Pro1475Ser) n.9603C>T n.3068C>T c.5263C>T (p.Pro1755Ser) c.5347C>T (p.Pro1783Ser) c.5395C>T (p.Pro1799Ser) c.4369C>T (p.Pro1457Ser) c.3950C>T c.3511C>T (p.Pro1171Ser) c.*1328C>T (n.*1328C>T) c.4664C>T c.5437C>T (p.Pro1813Ser) c.5434C>T (p.Pro1812Ser) c.5389C>T (p.Pro1797Ser) c.4513C>T (p.Pro1505Ser) c.4282C>T (p.Pro1428Ser) | gnomAD v4 |
10 | g.94298607C>A | CA377642138 | PLCE1 | c.4472C>A (p.Pro1491Gln) c.*1939C>A (n.*1939C>A) n.2131C>A n.815C>A c.*680C>A (n.*680C>A) c.4424C>A (p.Pro1475Gln) n.9604C>A n.3069C>A c.5264C>A (p.Pro1755Gln) c.5348C>A (p.Pro1783Gln) c.5396C>A (p.Pro1799Gln) c.4370C>A (p.Pro1457Gln) c.3951C>A c.3512C>A (p.Pro1171Gln) c.*1329C>A (n.*1329C>A) c.4665C>A c.5438C>A (p.Pro1813Gln) c.5435C>A (p.Pro1812Gln) c.5390C>A (p.Pro1797Gln) c.4514C>A (p.Pro1505Gln) c.4283C>A (p.Pro1428Gln) | gnomAD v4 |
10 | g.94298607C= | CA1928998455 | PLCE1 | c.4472C= (p.Pro1491=) c.*1939C= (n.*1939C=) n.2131C= n.815C= c.*680C= (n.*680C=) c.4424C= (p.Pro1475=) n.9604C= n.3069C= c.5264C= (p.Pro1755=) c.5348C= (p.Pro1783=) c.5396C= (p.Pro1799=) c.4370C= (p.Pro1457=) c.3951C= c.3512C= (p.Pro1171=) c.*1329C= (n.*1329C=) c.4665C= c.5438C= (p.Pro1813=) c.5435C= (p.Pro1812=) c.5390C= (p.Pro1797=) c.4514C= (p.Pro1505=) c.4283C= (p.Pro1428=) | |
10 | g.94298607C>G | CA377642136 | PLCE1 | c.4472C>G (p.Pro1491Arg) c.*1939C>G (n.*1939C>G) n.2131C>G n.815C>G c.*680C>G (n.*680C>G) c.4424C>G (p.Pro1475Arg) n.9604C>G n.3069C>G c.5264C>G (p.Pro1755Arg) c.5348C>G (p.Pro1783Arg) c.5396C>G (p.Pro1799Arg) c.4370C>G (p.Pro1457Arg) c.3951C>G c.3512C>G (p.Pro1171Arg) c.*1329C>G (n.*1329C>G) c.4665C>G c.5438C>G (p.Pro1813Arg) c.5435C>G (p.Pro1812Arg) c.5390C>G (p.Pro1797Arg) c.4514C>G (p.Pro1505Arg) c.4283C>G (p.Pro1428Arg) | |
10 | g.94298607C>T | CA377642137 | PLCE1 | c.4472C>T (p.Pro1491Leu) c.*1939C>T (n.*1939C>T) n.2131C>T n.815C>T c.*680C>T (n.*680C>T) c.4424C>T (p.Pro1475Leu) n.9604C>T n.3069C>T c.5264C>T (p.Pro1755Leu) c.5348C>T (p.Pro1783Leu) c.5396C>T (p.Pro1799Leu) c.4370C>T (p.Pro1457Leu) c.3951C>T c.3512C>T (p.Pro1171Leu) c.*1329C>T (n.*1329C>T) c.4665C>T c.5438C>T (p.Pro1813Leu) c.5435C>T (p.Pro1812Leu) c.5390C>T (p.Pro1797Leu) c.4514C>T (p.Pro1505Leu) c.4283C>T (p.Pro1428Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298608G>A | CA5613351 | PLCE1 | c.4473G>A (p.Pro1491=) c.*1940G>A (n.*1940G>A) n.2132G>A n.816G>A c.*681G>A (n.*681G>A) c.4425G>A (p.Pro1475=) n.9605G>A n.3070G>A c.5265G>A (p.Pro1755=) c.5349G>A (p.Pro1783=) c.5397G>A (p.Pro1799=) c.4371G>A (p.Pro1457=) c.3952G>A c.3513G>A (p.Pro1171=) c.*1330G>A (n.*1330G>A) c.4666G>A c.5439G>A (p.Pro1813=) c.5436G>A (p.Pro1812=) c.5391G>A (p.Pro1797=) c.4515G>A (p.Pro1505=) c.4284G>A (p.Pro1428=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298608G>C | CA470986618 | PLCE1 | c.4473G>C (p.Pro1491=) c.*1940G>C (n.*1940G>C) n.2132G>C n.816G>C c.*681G>C (n.*681G>C) c.4425G>C (p.Pro1475=) n.9605G>C n.3070G>C c.5265G>C (p.Pro1755=) c.5349G>C (p.Pro1783=) c.5397G>C (p.Pro1799=) c.4371G>C (p.Pro1457=) c.3952G>C c.3513G>C (p.Pro1171=) c.*1330G>C (n.*1330G>C) c.4666G>C c.5439G>C (p.Pro1813=) c.5436G>C (p.Pro1812=) c.5391G>C (p.Pro1797=) c.4515G>C (p.Pro1505=) c.4284G>C (p.Pro1428=) | |
10 | g.94298608G= | CA1928998456 | PLCE1 | c.4473G= (p.Pro1491=) c.*1940G= (n.*1940G=) n.2132G= n.816G= c.*681G= (n.*681G=) c.4425G= (p.Pro1475=) n.9605G= n.3070G= c.5265G= (p.Pro1755=) c.5349G= (p.Pro1783=) c.5397G= (p.Pro1799=) c.4371G= (p.Pro1457=) c.3952G= c.3513G= (p.Pro1171=) c.*1330G= (n.*1330G=) c.4666G= c.5439G= (p.Pro1813=) c.5436G= (p.Pro1812=) c.5391G= (p.Pro1797=) c.4515G= (p.Pro1505=) c.4284G= (p.Pro1428=) | |
10 | g.94298608G>T | CA470986619 | PLCE1 | c.4473G>T (p.Pro1491=) c.*1940G>T (n.*1940G>T) n.2132G>T n.816G>T c.*681G>T (n.*681G>T) c.4425G>T (p.Pro1475=) n.9605G>T n.3070G>T c.5265G>T (p.Pro1755=) c.5349G>T (p.Pro1783=) c.5397G>T (p.Pro1799=) c.4371G>T (p.Pro1457=) c.3952G>T c.3513G>T (p.Pro1171=) c.*1330G>T (n.*1330G>T) c.4666G>T c.5439G>T (p.Pro1813=) c.5436G>T (p.Pro1812=) c.5391G>T (p.Pro1797=) c.4515G>T (p.Pro1505=) c.4284G>T (p.Pro1428=) | |
10 | g.94298609A>C | CA377642139 | PLCE1 | c.4474A>C (p.Asn1492His) c.*1941A>C (n.*1941A>C) n.2133A>C n.817A>C c.*682A>C (n.*682A>C) c.4426A>C (p.Asn1476His) n.9606A>C n.3071A>C c.5266A>C (p.Asn1756His) c.5350A>C (p.Asn1784His) c.5398A>C (p.Asn1800His) c.4372A>C (p.Asn1458His) c.3953A>C c.3514A>C (p.Asn1172His) c.*1331A>C (n.*1331A>C) c.4667A>C c.5440A>C (p.Asn1814His) c.5437A>C (p.Asn1813His) c.5392A>C (p.Asn1798His) c.4516A>C (p.Asn1506His) c.4285A>C (p.Asn1429His) | |
10 | g.94298609A>G | CA377642140 | PLCE1 | c.4474A>G (p.Asn1492Asp) c.*1941A>G (n.*1941A>G) n.2133A>G n.817A>G c.*682A>G (n.*682A>G) c.4426A>G (p.Asn1476Asp) n.9606A>G n.3071A>G c.5266A>G (p.Asn1756Asp) c.5350A>G (p.Asn1784Asp) c.5398A>G (p.Asn1800Asp) c.4372A>G (p.Asn1458Asp) c.3953A>G c.3514A>G (p.Asn1172Asp) c.*1331A>G (n.*1331A>G) c.4667A>G c.5440A>G (p.Asn1814Asp) c.5437A>G (p.Asn1813Asp) c.5392A>G (p.Asn1798Asp) c.4516A>G (p.Asn1506Asp) c.4285A>G (p.Asn1429Asp) | |
10 | g.94298609A>T | CA377642141 | PLCE1 | c.4474A>T (p.Asn1492Tyr) c.*1941A>T (n.*1941A>T) n.2133A>T n.817A>T c.*682A>T (n.*682A>T) c.4426A>T (p.Asn1476Tyr) n.9606A>T n.3071A>T c.5266A>T (p.Asn1756Tyr) c.5350A>T (p.Asn1784Tyr) c.5398A>T (p.Asn1800Tyr) c.4372A>T (p.Asn1458Tyr) c.3953A>T c.3514A>T (p.Asn1172Tyr) c.*1331A>T (n.*1331A>T) c.4667A>T c.5440A>T (p.Asn1814Tyr) c.5437A>T (p.Asn1813Tyr) c.5392A>T (p.Asn1798Tyr) c.4516A>T (p.Asn1506Tyr) c.4285A>T (p.Asn1429Tyr) | |
10 | g.94298610A>C | CA377642142 | PLCE1 | c.4475A>C (p.Asn1492Thr) c.*1942A>C (n.*1942A>C) n.2134A>C n.818A>C c.*683A>C (n.*683A>C) c.4427A>C (p.Asn1476Thr) n.9607A>C n.3072A>C c.5267A>C (p.Asn1756Thr) c.5351A>C (p.Asn1784Thr) c.5399A>C (p.Asn1800Thr) c.4373A>C (p.Asn1458Thr) c.3954A>C c.3515A>C (p.Asn1172Thr) c.*1332A>C (n.*1332A>C) c.4668A>C c.5441A>C (p.Asn1814Thr) c.5438A>C (p.Asn1813Thr) c.5393A>C (p.Asn1798Thr) c.4517A>C (p.Asn1506Thr) c.4286A>C (p.Asn1429Thr) | |
10 | g.94298610A>G | CA377642143 | PLCE1 | c.4475A>G (p.Asn1492Ser) c.*1942A>G (n.*1942A>G) n.2134A>G n.818A>G c.*683A>G (n.*683A>G) c.4427A>G (p.Asn1476Ser) n.9607A>G n.3072A>G c.5267A>G (p.Asn1756Ser) c.5351A>G (p.Asn1784Ser) c.5399A>G (p.Asn1800Ser) c.4373A>G (p.Asn1458Ser) c.3954A>G c.3515A>G (p.Asn1172Ser) c.*1332A>G (n.*1332A>G) c.4668A>G c.5441A>G (p.Asn1814Ser) c.5438A>G (p.Asn1813Ser) c.5393A>G (p.Asn1798Ser) c.4517A>G (p.Asn1506Ser) c.4286A>G (p.Asn1429Ser) | ClinVar |
10 | g.94298610A>T | CA377642144 | PLCE1 | c.4475A>T (p.Asn1492Ile) c.*1942A>T (n.*1942A>T) n.2134A>T n.818A>T c.*683A>T (n.*683A>T) c.4427A>T (p.Asn1476Ile) n.9607A>T n.3072A>T c.5267A>T (p.Asn1756Ile) c.5351A>T (p.Asn1784Ile) c.5399A>T (p.Asn1800Ile) c.4373A>T (p.Asn1458Ile) c.3954A>T c.3515A>T (p.Asn1172Ile) c.*1332A>T (n.*1332A>T) c.4668A>T c.5441A>T (p.Asn1814Ile) c.5438A>T (p.Asn1813Ile) c.5393A>T (p.Asn1798Ile) c.4517A>T (p.Asn1506Ile) c.4286A>T (p.Asn1429Ile) | |
10 | g.94298611C>A | CA377642145 | PLCE1 | c.4476C>A (p.Asn1492Lys) c.*1943C>A (n.*1943C>A) n.2135C>A n.819C>A c.*684C>A (n.*684C>A) c.4428C>A (p.Asn1476Lys) n.9608C>A n.3073C>A c.5268C>A (p.Asn1756Lys) c.5352C>A (p.Asn1784Lys) c.5400C>A (p.Asn1800Lys) c.4374C>A (p.Asn1458Lys) c.3955C>A c.3516C>A (p.Asn1172Lys) c.*1333C>A (n.*1333C>A) c.4669C>A c.5442C>A (p.Asn1814Lys) c.5439C>A (p.Asn1813Lys) c.5394C>A (p.Asn1798Lys) c.4518C>A (p.Asn1506Lys) c.4287C>A (p.Asn1429Lys) | |
10 | g.94298611C>G | CA377642146 | PLCE1 | c.4476C>G (p.Asn1492Lys) c.*1943C>G (n.*1943C>G) n.2135C>G n.819C>G c.*684C>G (n.*684C>G) c.4428C>G (p.Asn1476Lys) n.9608C>G n.3073C>G c.5268C>G (p.Asn1756Lys) c.5352C>G (p.Asn1784Lys) c.5400C>G (p.Asn1800Lys) c.4374C>G (p.Asn1458Lys) c.3955C>G c.3516C>G (p.Asn1172Lys) c.*1333C>G (n.*1333C>G) c.4669C>G c.5442C>G (p.Asn1814Lys) c.5439C>G (p.Asn1813Lys) c.5394C>G (p.Asn1798Lys) c.4518C>G (p.Asn1506Lys) c.4287C>G (p.Asn1429Lys) | |
10 | g.94298611C>T | CA470986620 | PLCE1 | c.4476C>T (p.Asn1492=) c.*1943C>T (n.*1943C>T) n.2135C>T n.819C>T c.*684C>T (n.*684C>T) c.4428C>T (p.Asn1476=) n.9608C>T n.3073C>T c.5268C>T (p.Asn1756=) c.5352C>T (p.Asn1784=) c.5400C>T (p.Asn1800=) c.4374C>T (p.Asn1458=) c.3955C>T c.3516C>T (p.Asn1172=) c.*1333C>T (n.*1333C>T) c.4669C>T c.5442C>T (p.Asn1814=) c.5439C>T (p.Asn1813=) c.5394C>T (p.Asn1798=) c.4518C>T (p.Asn1506=) c.4287C>T (p.Asn1429=) | |
10 | g.94298615del | CA2610239649 | PLCE1 | c.4480del (p.Leu1494SerfsTer24) c.*1947del (n.*1947del) n.2139del n.823del c.*688del (n.*688del) c.4432del (p.Leu1478SerfsTer24) n.9612del n.3077del c.5272del (p.Leu1758SerfsTer24) c.5356del (p.Leu1786SerfsTer24) c.5404del (p.Leu1802SerfsTer24) c.4378del (p.Leu1460SerfsTer24) c.3959del c.3520del (p.Leu1174SerfsTer24) c.*1337del (n.*1337del) c.4673del c.5446del (p.Leu1816SerfsTer24) c.5443del (p.Leu1815SerfsTer24) c.5398del (p.Leu1800SerfsTer24) c.4522del (p.Leu1508SerfsTer24) c.4291del (p.Leu1431SerfsTer24) | gnomAD v4 |
10 | g.94298612C>A | CA377642147 | PLCE1 | c.4477C>A (p.Pro1493Thr) c.*1944C>A (n.*1944C>A) n.2136C>A n.820C>A c.*685C>A (n.*685C>A) c.4429C>A (p.Pro1477Thr) n.9609C>A n.3074C>A c.5269C>A (p.Pro1757Thr) c.5353C>A (p.Pro1785Thr) c.5401C>A (p.Pro1801Thr) c.4375C>A (p.Pro1459Thr) c.3956C>A c.3517C>A (p.Pro1173Thr) c.*1334C>A (n.*1334C>A) c.4670C>A c.5443C>A (p.Pro1815Thr) c.5440C>A (p.Pro1814Thr) c.5395C>A (p.Pro1799Thr) c.4519C>A (p.Pro1507Thr) c.4288C>A (p.Pro1430Thr) | |
10 | g.94298612C>G | CA377642148 | PLCE1 | c.4477C>G (p.Pro1493Ala) c.*1944C>G (n.*1944C>G) n.2136C>G n.820C>G c.*685C>G (n.*685C>G) c.4429C>G (p.Pro1477Ala) n.9609C>G n.3074C>G c.5269C>G (p.Pro1757Ala) c.5353C>G (p.Pro1785Ala) c.5401C>G (p.Pro1801Ala) c.4375C>G (p.Pro1459Ala) c.3956C>G c.3517C>G (p.Pro1173Ala) c.*1334C>G (n.*1334C>G) c.4670C>G c.5443C>G (p.Pro1815Ala) c.5440C>G (p.Pro1814Ala) c.5395C>G (p.Pro1799Ala) c.4519C>G (p.Pro1507Ala) c.4288C>G (p.Pro1430Ala) | |
10 | g.94298612C>T | CA377642149 | PLCE1 | c.4477C>T (p.Pro1493Ser) c.*1944C>T (n.*1944C>T) n.2136C>T n.820C>T c.*685C>T (n.*685C>T) c.4429C>T (p.Pro1477Ser) n.9609C>T n.3074C>T c.5269C>T (p.Pro1757Ser) c.5353C>T (p.Pro1785Ser) c.5401C>T (p.Pro1801Ser) c.4375C>T (p.Pro1459Ser) c.3956C>T c.3517C>T (p.Pro1173Ser) c.*1334C>T (n.*1334C>T) c.4670C>T c.5443C>T (p.Pro1815Ser) c.5440C>T (p.Pro1814Ser) c.5395C>T (p.Pro1799Ser) c.4519C>T (p.Pro1507Ser) c.4288C>T (p.Pro1430Ser) | |
10 | g.94298613C>A | CA377642150 | PLCE1 | c.4478C>A (p.Pro1493His) c.*1945C>A (n.*1945C>A) n.2137C>A n.821C>A c.*686C>A (n.*686C>A) c.4430C>A (p.Pro1477His) n.9610C>A n.3075C>A c.5270C>A (p.Pro1757His) c.5354C>A (p.Pro1785His) c.5402C>A (p.Pro1801His) c.4376C>A (p.Pro1459His) c.3957C>A c.3518C>A (p.Pro1173His) c.*1335C>A (n.*1335C>A) c.4671C>A c.5444C>A (p.Pro1815His) c.5441C>A (p.Pro1814His) c.5396C>A (p.Pro1799His) c.4520C>A (p.Pro1507His) c.4289C>A (p.Pro1430His) | |
10 | g.94298613C>G | CA377642152 | PLCE1 | c.4478C>G (p.Pro1493Arg) c.*1945C>G (n.*1945C>G) n.2137C>G n.821C>G c.*686C>G (n.*686C>G) c.4430C>G (p.Pro1477Arg) n.9610C>G n.3075C>G c.5270C>G (p.Pro1757Arg) c.5354C>G (p.Pro1785Arg) c.5402C>G (p.Pro1801Arg) c.4376C>G (p.Pro1459Arg) c.3957C>G c.3518C>G (p.Pro1173Arg) c.*1335C>G (n.*1335C>G) c.4671C>G c.5444C>G (p.Pro1815Arg) c.5441C>G (p.Pro1814Arg) c.5396C>G (p.Pro1799Arg) c.4520C>G (p.Pro1507Arg) c.4289C>G (p.Pro1430Arg) | gnomAD v4 |
10 | g.94298613C>T | CA377642151 | PLCE1 | c.4478C>T (p.Pro1493Leu) c.*1945C>T (n.*1945C>T) n.2137C>T n.821C>T c.*686C>T (n.*686C>T) c.4430C>T (p.Pro1477Leu) n.9610C>T n.3075C>T c.5270C>T (p.Pro1757Leu) c.5354C>T (p.Pro1785Leu) c.5402C>T (p.Pro1801Leu) c.4376C>T (p.Pro1459Leu) c.3957C>T c.3518C>T (p.Pro1173Leu) c.*1335C>T (n.*1335C>T) c.4671C>T c.5444C>T (p.Pro1815Leu) c.5441C>T (p.Pro1814Leu) c.5396C>T (p.Pro1799Leu) c.4520C>T (p.Pro1507Leu) c.4289C>T (p.Pro1430Leu) | |
10 | g.94298614C>A | CA211599812 | PLCE1 | c.4479C>A (p.Pro1493=) c.*1946C>A (n.*1946C>A) n.2138C>A n.822C>A c.*687C>A (n.*687C>A) c.4431C>A (p.Pro1477=) n.9611C>A n.3076C>A c.5271C>A (p.Pro1757=) c.5355C>A (p.Pro1785=) c.5403C>A (p.Pro1801=) c.4377C>A (p.Pro1459=) c.3958C>A c.3519C>A (p.Pro1173=) c.*1336C>A (n.*1336C>A) c.4672C>A c.5445C>A (p.Pro1815=) c.5442C>A (p.Pro1814=) c.5397C>A (p.Pro1799=) c.4521C>A (p.Pro1507=) c.4290C>A (p.Pro1430=) | dbSNP |
10 | g.94298614C= | CA1928998457 | PLCE1 | c.4479C= (p.Pro1493=) c.*1946C= (n.*1946C=) n.2138C= n.822C= c.*687C= (n.*687C=) c.4431C= (p.Pro1477=) n.9611C= n.3076C= c.5271C= (p.Pro1757=) c.5355C= (p.Pro1785=) c.5403C= (p.Pro1801=) c.4377C= (p.Pro1459=) c.3958C= c.3519C= (p.Pro1173=) c.*1336C= (n.*1336C=) c.4672C= c.5445C= (p.Pro1815=) c.5442C= (p.Pro1814=) c.5397C= (p.Pro1799=) c.4521C= (p.Pro1507=) c.4290C= (p.Pro1430=) | |
10 | g.94298614C>G | CA470986621 | PLCE1 | c.4479C>G (p.Pro1493=) c.*1946C>G (n.*1946C>G) n.2138C>G n.822C>G c.*687C>G (n.*687C>G) c.4431C>G (p.Pro1477=) n.9611C>G n.3076C>G c.5271C>G (p.Pro1757=) c.5355C>G (p.Pro1785=) c.5403C>G (p.Pro1801=) c.4377C>G (p.Pro1459=) c.3958C>G c.3519C>G (p.Pro1173=) c.*1336C>G (n.*1336C>G) c.4672C>G c.5445C>G (p.Pro1815=) c.5442C>G (p.Pro1814=) c.5397C>G (p.Pro1799=) c.4521C>G (p.Pro1507=) c.4290C>G (p.Pro1430=) | |
10 | g.94298614C>T | CA470986622 | PLCE1 | c.4479C>T (p.Pro1493=) c.*1946C>T (n.*1946C>T) n.2138C>T n.822C>T c.*687C>T (n.*687C>T) c.4431C>T (p.Pro1477=) n.9611C>T n.3076C>T c.5271C>T (p.Pro1757=) c.5355C>T (p.Pro1785=) c.5403C>T (p.Pro1801=) c.4377C>T (p.Pro1459=) c.3958C>T c.3519C>T (p.Pro1173=) c.*1336C>T (n.*1336C>T) c.4672C>T c.5445C>T (p.Pro1815=) c.5442C>T (p.Pro1814=) c.5397C>T (p.Pro1799=) c.4521C>T (p.Pro1507=) c.4290C>T (p.Pro1430=) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
10 | g.94298615C>A | CA377642153 | PLCE1 | c.4480C>A (p.Leu1494Ile) c.*1947C>A (n.*1947C>A) n.2139C>A n.823C>A c.*688C>A (n.*688C>A) c.4432C>A (p.Leu1478Ile) n.9612C>A n.3077C>A c.5272C>A (p.Leu1758Ile) c.5356C>A (p.Leu1786Ile) c.5404C>A (p.Leu1802Ile) c.4378C>A (p.Leu1460Ile) c.3959C>A c.3520C>A (p.Leu1174Ile) c.*1337C>A (n.*1337C>A) c.4673C>A c.5446C>A (p.Leu1816Ile) c.5443C>A (p.Leu1815Ile) c.5398C>A (p.Leu1800Ile) c.4522C>A (p.Leu1508Ile) c.4291C>A (p.Leu1431Ile) | |
10 | g.94298615C>G | CA377642154 | PLCE1 | c.4480C>G (p.Leu1494Val) c.*1947C>G (n.*1947C>G) n.2139C>G n.823C>G c.*688C>G (n.*688C>G) c.4432C>G (p.Leu1478Val) n.9612C>G n.3077C>G c.5272C>G (p.Leu1758Val) c.5356C>G (p.Leu1786Val) c.5404C>G (p.Leu1802Val) c.4378C>G (p.Leu1460Val) c.3959C>G c.3520C>G (p.Leu1174Val) c.*1337C>G (n.*1337C>G) c.4673C>G c.5446C>G (p.Leu1816Val) c.5443C>G (p.Leu1815Val) c.5398C>G (p.Leu1800Val) c.4522C>G (p.Leu1508Val) c.4291C>G (p.Leu1431Val) | |
10 | g.94298615C>T | CA377642155 | PLCE1 | c.4480C>T (p.Leu1494Phe) c.*1947C>T (n.*1947C>T) n.2139C>T n.823C>T c.*688C>T (n.*688C>T) c.4432C>T (p.Leu1478Phe) n.9612C>T n.3077C>T c.5272C>T (p.Leu1758Phe) c.5356C>T (p.Leu1786Phe) c.5404C>T (p.Leu1802Phe) c.4378C>T (p.Leu1460Phe) c.3959C>T c.3520C>T (p.Leu1174Phe) c.*1337C>T (n.*1337C>T) c.4673C>T c.5446C>T (p.Leu1816Phe) c.5443C>T (p.Leu1815Phe) c.5398C>T (p.Leu1800Phe) c.4522C>T (p.Leu1508Phe) c.4291C>T (p.Leu1431Phe) | gnomAD v4 |
10 | g.94298616T>A | CA377642156 | PLCE1 | c.4481T>A (p.Leu1494His) c.*1948T>A (n.*1948T>A) n.2140T>A n.824T>A c.*689T>A (n.*689T>A) c.4433T>A (p.Leu1478His) n.9613T>A n.3078T>A c.5273T>A (p.Leu1758His) c.5357T>A (p.Leu1786His) c.5405T>A (p.Leu1802His) c.4379T>A (p.Leu1460His) c.3960T>A c.3521T>A (p.Leu1174His) c.*1338T>A (n.*1338T>A) c.4674T>A c.5447T>A (p.Leu1816His) c.5444T>A (p.Leu1815His) c.5399T>A (p.Leu1800His) c.4523T>A (p.Leu1508His) c.4292T>A (p.Leu1431His) | |
10 | g.94298616T>C | CA377642157 | PLCE1 | c.4481T>C (p.Leu1494Pro) c.*1948T>C (n.*1948T>C) n.2140T>C n.824T>C c.*689T>C (n.*689T>C) c.4433T>C (p.Leu1478Pro) n.9613T>C n.3078T>C c.5273T>C (p.Leu1758Pro) c.5357T>C (p.Leu1786Pro) c.5405T>C (p.Leu1802Pro) c.4379T>C (p.Leu1460Pro) c.3960T>C c.3521T>C (p.Leu1174Pro) c.*1338T>C (n.*1338T>C) c.4674T>C c.5447T>C (p.Leu1816Pro) c.5444T>C (p.Leu1815Pro) c.5399T>C (p.Leu1800Pro) c.4523T>C (p.Leu1508Pro) c.4292T>C (p.Leu1431Pro) | |
10 | g.94298616T>G | CA377642158 | PLCE1 | c.4481T>G (p.Leu1494Arg) c.*1948T>G (n.*1948T>G) n.2140T>G n.824T>G c.*689T>G (n.*689T>G) c.4433T>G (p.Leu1478Arg) n.9613T>G n.3078T>G c.5273T>G (p.Leu1758Arg) c.5357T>G (p.Leu1786Arg) c.5405T>G (p.Leu1802Arg) c.4379T>G (p.Leu1460Arg) c.3960T>G c.3521T>G (p.Leu1174Arg) c.*1338T>G (n.*1338T>G) c.4674T>G c.5447T>G (p.Leu1816Arg) c.5444T>G (p.Leu1815Arg) c.5399T>G (p.Leu1800Arg) c.4523T>G (p.Leu1508Arg) c.4292T>G (p.Leu1431Arg) | |
10 | g.94298617C>A | CA470986623 | PLCE1 | c.4482C>A (p.Leu1494=) c.*1949C>A (n.*1949C>A) n.2141C>A n.825C>A c.*690C>A (n.*690C>A) c.4434C>A (p.Leu1478=) n.9614C>A n.3079C>A c.5274C>A (p.Leu1758=) c.5358C>A (p.Leu1786=) c.5406C>A (p.Leu1802=) c.4380C>A (p.Leu1460=) c.3961C>A c.3522C>A (p.Leu1174=) c.*1339C>A (n.*1339C>A) c.4675C>A c.5448C>A (p.Leu1816=) c.5445C>A (p.Leu1815=) c.5400C>A (p.Leu1800=) c.4524C>A (p.Leu1508=) c.4293C>A (p.Leu1431=) | |
10 | g.94298617C= | CA1928998458 | PLCE1 | c.4482C= (p.Leu1494=) c.*1949C= (n.*1949C=) n.2141C= n.825C= c.*690C= (n.*690C=) c.4434C= (p.Leu1478=) n.9614C= n.3079C= c.5274C= (p.Leu1758=) c.5358C= (p.Leu1786=) c.5406C= (p.Leu1802=) c.4380C= (p.Leu1460=) c.3961C= c.3522C= (p.Leu1174=) c.*1339C= (n.*1339C=) c.4675C= c.5448C= (p.Leu1816=) c.5445C= (p.Leu1815=) c.5400C= (p.Leu1800=) c.4524C= (p.Leu1508=) c.4293C= (p.Leu1431=) | |
10 | g.94298617C>G | CA470986625 | PLCE1 | c.4482C>G (p.Leu1494=) c.*1949C>G (n.*1949C>G) n.2141C>G n.825C>G c.*690C>G (n.*690C>G) c.4434C>G (p.Leu1478=) n.9614C>G n.3079C>G c.5274C>G (p.Leu1758=) c.5358C>G (p.Leu1786=) c.5406C>G (p.Leu1802=) c.4380C>G (p.Leu1460=) c.3961C>G c.3522C>G (p.Leu1174=) c.*1339C>G (n.*1339C>G) c.4675C>G c.5448C>G (p.Leu1816=) c.5445C>G (p.Leu1815=) c.5400C>G (p.Leu1800=) c.4524C>G (p.Leu1508=) c.4293C>G (p.Leu1431=) | |
10 | g.94298617C>T | CA470986624 | PLCE1 | c.4482C>T (p.Leu1494=) c.*1949C>T (n.*1949C>T) n.2141C>T n.825C>T c.*690C>T (n.*690C>T) c.4434C>T (p.Leu1478=) n.9614C>T n.3079C>T c.5274C>T (p.Leu1758=) c.5358C>T (p.Leu1786=) c.5406C>T (p.Leu1802=) c.4380C>T (p.Leu1460=) c.3961C>T c.3522C>T (p.Leu1174=) c.*1339C>T (n.*1339C>T) c.4675C>T c.5448C>T (p.Leu1816=) c.5445C>T (p.Leu1815=) c.5400C>T (p.Leu1800=) c.4524C>T (p.Leu1508=) c.4293C>T (p.Leu1431=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298618A>C | CA377642159 | PLCE1 | c.4483A>C (p.Met1495Leu) c.*1950A>C (n.*1950A>C) n.2142A>C n.826A>C c.*691A>C (n.*691A>C) c.4435A>C (p.Met1479Leu) n.9615A>C n.3080A>C c.5275A>C (p.Met1759Leu) c.5359A>C (p.Met1787Leu) c.5407A>C (p.Met1803Leu) c.4381A>C (p.Met1461Leu) c.3962A>C c.3523A>C (p.Met1175Leu) c.*1340A>C (n.*1340A>C) c.4676A>C c.5449A>C (p.Met1817Leu) c.5446A>C (p.Met1816Leu) c.5401A>C (p.Met1801Leu) c.4525A>C (p.Met1509Leu) c.4294A>C (p.Met1432Leu) | |
10 | g.94298618A>G | CA377642160 | PLCE1 | c.4483A>G (p.Met1495Val) c.*1950A>G (n.*1950A>G) n.2142A>G n.826A>G c.*691A>G (n.*691A>G) c.4435A>G (p.Met1479Val) n.9615A>G n.3080A>G c.5275A>G (p.Met1759Val) c.5359A>G (p.Met1787Val) c.5407A>G (p.Met1803Val) c.4381A>G (p.Met1461Val) c.3962A>G c.3523A>G (p.Met1175Val) c.*1340A>G (n.*1340A>G) c.4676A>G c.5449A>G (p.Met1817Val) c.5446A>G (p.Met1816Val) c.5401A>G (p.Met1801Val) c.4525A>G (p.Met1509Val) c.4294A>G (p.Met1432Val) | gnomAD v4 |
10 | g.94298618A>T | CA377642162 | PLCE1 | c.4483A>T (p.Met1495Leu) c.*1950A>T (n.*1950A>T) n.2142A>T n.826A>T c.*691A>T (n.*691A>T) c.4435A>T (p.Met1479Leu) n.9615A>T n.3080A>T c.5275A>T (p.Met1759Leu) c.5359A>T (p.Met1787Leu) c.5407A>T (p.Met1803Leu) c.4381A>T (p.Met1461Leu) c.3962A>T c.3523A>T (p.Met1175Leu) c.*1340A>T (n.*1340A>T) c.4676A>T c.5449A>T (p.Met1817Leu) c.5446A>T (p.Met1816Leu) c.5401A>T (p.Met1801Leu) c.4525A>T (p.Met1509Leu) c.4294A>T (p.Met1432Leu) | |
10 | g.94298619T>A | CA377642165 | PLCE1 | c.4484T>A (p.Met1495Lys) c.*1951T>A (n.*1951T>A) n.2143T>A n.827T>A c.*692T>A (n.*692T>A) c.4436T>A (p.Met1479Lys) n.9616T>A n.3081T>A c.5276T>A (p.Met1759Lys) c.5360T>A (p.Met1787Lys) c.5408T>A (p.Met1803Lys) c.4382T>A (p.Met1461Lys) c.3963T>A c.3524T>A (p.Met1175Lys) c.*1341T>A (n.*1341T>A) c.4677T>A c.5450T>A (p.Met1817Lys) c.5447T>A (p.Met1816Lys) c.5402T>A (p.Met1801Lys) c.4526T>A (p.Met1509Lys) c.4295T>A (p.Met1432Lys) | |
10 | g.94298619T>C | CA377642166 | PLCE1 | c.4484T>C (p.Met1495Thr) c.*1951T>C (n.*1951T>C) n.2143T>C n.827T>C c.*692T>C (n.*692T>C) c.4436T>C (p.Met1479Thr) n.9616T>C n.3081T>C c.5276T>C (p.Met1759Thr) c.5360T>C (p.Met1787Thr) c.5408T>C (p.Met1803Thr) c.4382T>C (p.Met1461Thr) c.3963T>C c.3524T>C (p.Met1175Thr) c.*1341T>C (n.*1341T>C) c.4677T>C c.5450T>C (p.Met1817Thr) c.5447T>C (p.Met1816Thr) c.5402T>C (p.Met1801Thr) c.4526T>C (p.Met1509Thr) c.4295T>C (p.Met1432Thr) | |
10 | g.94298619T>G | CA377642167 | PLCE1 | c.4484T>G (p.Met1495Arg) c.*1951T>G (n.*1951T>G) n.2143T>G n.827T>G c.*692T>G (n.*692T>G) c.4436T>G (p.Met1479Arg) n.9616T>G n.3081T>G c.5276T>G (p.Met1759Arg) c.5360T>G (p.Met1787Arg) c.5408T>G (p.Met1803Arg) c.4382T>G (p.Met1461Arg) c.3963T>G c.3524T>G (p.Met1175Arg) c.*1341T>G (n.*1341T>G) c.4677T>G c.5450T>G (p.Met1817Arg) c.5447T>G (p.Met1816Arg) c.5402T>G (p.Met1801Arg) c.4526T>G (p.Met1509Arg) c.4295T>G (p.Met1432Arg) | |
10 | g.94298620G>A | CA5613352 | PLCE1 | c.4485G>A (p.Met1495Ile) c.*1952G>A (n.*1952G>A) n.2144G>A n.828G>A c.*693G>A (n.*693G>A) c.4437G>A (p.Met1479Ile) n.9617G>A n.3082G>A c.5277G>A (p.Met1759Ile) c.5361G>A (p.Met1787Ile) c.5409G>A (p.Met1803Ile) c.4383G>A (p.Met1461Ile) c.3964G>A c.3525G>A (p.Met1175Ile) c.*1342G>A (n.*1342G>A) c.4678G>A c.5451G>A (p.Met1817Ile) c.5448G>A (p.Met1816Ile) c.5403G>A (p.Met1801Ile) c.4527G>A (p.Met1509Ile) c.4296G>A (p.Met1432Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298620G>C | CA377642170 | PLCE1 | c.4485G>C (p.Met1495Ile) c.*1952G>C (n.*1952G>C) n.2144G>C n.828G>C c.*693G>C (n.*693G>C) c.4437G>C (p.Met1479Ile) n.9617G>C n.3082G>C c.5277G>C (p.Met1759Ile) c.5361G>C (p.Met1787Ile) c.5409G>C (p.Met1803Ile) c.4383G>C (p.Met1461Ile) c.3964G>C c.3525G>C (p.Met1175Ile) c.*1342G>C (n.*1342G>C) c.4678G>C c.5451G>C (p.Met1817Ile) c.5448G>C (p.Met1816Ile) c.5403G>C (p.Met1801Ile) c.4527G>C (p.Met1509Ile) c.4296G>C (p.Met1432Ile) | |
10 | g.94298620G= | CA1928998459 | PLCE1 | c.4485G= (p.Met1495=) c.*1952G= (n.*1952G=) n.2144G= n.828G= c.*693G= (n.*693G=) c.4437G= (p.Met1479=) n.9617G= n.3082G= c.5277G= (p.Met1759=) c.5361G= (p.Met1787=) c.5409G= (p.Met1803=) c.4383G= (p.Met1461=) c.3964G= c.3525G= (p.Met1175=) c.*1342G= (n.*1342G=) c.4678G= c.5451G= (p.Met1817=) c.5448G= (p.Met1816=) c.5403G= (p.Met1801=) c.4527G= (p.Met1509=) c.4296G= (p.Met1432=) | |
10 | g.94298620G>T | CA377642172 | PLCE1 | c.4485G>T (p.Met1495Ile) c.*1952G>T (n.*1952G>T) n.2144G>T n.828G>T c.*693G>T (n.*693G>T) c.4437G>T (p.Met1479Ile) n.9617G>T n.3082G>T c.5277G>T (p.Met1759Ile) c.5361G>T (p.Met1787Ile) c.5409G>T (p.Met1803Ile) c.4383G>T (p.Met1461Ile) c.3964G>T c.3525G>T (p.Met1175Ile) c.*1342G>T (n.*1342G>T) c.4678G>T c.5451G>T (p.Met1817Ile) c.5448G>T (p.Met1816Ile) c.5403G>T (p.Met1801Ile) c.4527G>T (p.Met1509Ile) c.4296G>T (p.Met1432Ile) | |
10 | g.94298621T>A | CA377642175 | PLCE1 | c.4486T>A (p.Phe1496Ile) c.*1953T>A (n.*1953T>A) n.2145T>A n.829T>A c.*694T>A (n.*694T>A) c.4438T>A (p.Phe1480Ile) n.9618T>A n.3083T>A c.5278T>A (p.Phe1760Ile) c.5362T>A (p.Phe1788Ile) c.5410T>A (p.Phe1804Ile) c.4384T>A (p.Phe1462Ile) c.3965T>A c.3526T>A (p.Phe1176Ile) c.*1343T>A (n.*1343T>A) c.4679T>A c.5452T>A (p.Phe1818Ile) c.5449T>A (p.Phe1817Ile) c.5404T>A (p.Phe1802Ile) c.4528T>A (p.Phe1510Ile) c.4297T>A (p.Phe1433Ile) | dbSNP |
10 | g.94298621T>C | CA377642177 | PLCE1 | c.4486T>C (p.Phe1496Leu) c.*1953T>C (n.*1953T>C) n.2145T>C n.829T>C c.*694T>C (n.*694T>C) c.4438T>C (p.Phe1480Leu) n.9618T>C n.3083T>C c.5278T>C (p.Phe1760Leu) c.5362T>C (p.Phe1788Leu) c.5410T>C (p.Phe1804Leu) c.4384T>C (p.Phe1462Leu) c.3965T>C c.3526T>C (p.Phe1176Leu) c.*1343T>C (n.*1343T>C) c.4679T>C c.5452T>C (p.Phe1818Leu) c.5449T>C (p.Phe1817Leu) c.5404T>C (p.Phe1802Leu) c.4528T>C (p.Phe1510Leu) c.4297T>C (p.Phe1433Leu) | |
10 | g.94298621T>G | CA377642179 | PLCE1 | c.4486T>G (p.Phe1496Val) c.*1953T>G (n.*1953T>G) n.2145T>G n.829T>G c.*694T>G (n.*694T>G) c.4438T>G (p.Phe1480Val) n.9618T>G n.3083T>G c.5278T>G (p.Phe1760Val) c.5362T>G (p.Phe1788Val) c.5410T>G (p.Phe1804Val) c.4384T>G (p.Phe1462Val) c.3965T>G c.3526T>G (p.Phe1176Val) c.*1343T>G (n.*1343T>G) c.4679T>G c.5452T>G (p.Phe1818Val) c.5449T>G (p.Phe1817Val) c.5404T>G (p.Phe1802Val) c.4528T>G (p.Phe1510Val) c.4297T>G (p.Phe1433Val) | gnomAD v4 |
10 | g.94298621T= | CA1928998460 | PLCE1 | c.4486T= (p.Phe1496=) c.*1953T= (n.*1953T=) n.2145T= n.829T= c.*694T= (n.*694T=) c.4438T= (p.Phe1480=) n.9618T= n.3083T= c.5278T= (p.Phe1760=) c.5362T= (p.Phe1788=) c.5410T= (p.Phe1804=) c.4384T= (p.Phe1462=) c.3965T= c.3526T= (p.Phe1176=) c.*1343T= (n.*1343T=) c.4679T= c.5452T= (p.Phe1818=) c.5449T= (p.Phe1817=) c.5404T= (p.Phe1802=) c.4528T= (p.Phe1510=) c.4297T= (p.Phe1433=) | |
10 | g.94298621_94298622del | CA2573332764 | PLCE1 | c.4486_4487del (p.Phe1496LeufsTer15) c.*1953_*1954del (n.*1953_*1954del) n.2145_2146del n.829_830del c.*694_*695del (n.*694_*695del) c.4438_4439del (p.Phe1480LeufsTer15) n.9618_9619del n.3083_3084del c.5278_5279del (p.Phe1760LeufsTer15) c.5362_5363del (p.Phe1788LeufsTer15) c.5410_5411del (p.Phe1804LeufsTer15) c.4384_4385del (p.Phe1462LeufsTer15) c.3965_3966del c.3526_3527del (p.Phe1176LeufsTer15) c.*1343_*1344del (n.*1343_*1344del) c.4679_4680del c.5452_5453del (p.Phe1818LeufsTer15) c.5449_5450del (p.Phe1817LeufsTer15) c.5404_5405del (p.Phe1802LeufsTer15) c.4528_4529del (p.Phe1510LeufsTer15) c.4297_4298del (p.Phe1433LeufsTer15) | |
10 | g.94298622T>A | CA377642182 | PLCE1 | c.4487T>A (p.Phe1496Tyr) c.*1954T>A (n.*1954T>A) n.2146T>A n.830T>A c.*695T>A (n.*695T>A) c.4439T>A (p.Phe1480Tyr) n.9619T>A n.3084T>A c.5279T>A (p.Phe1760Tyr) c.5363T>A (p.Phe1788Tyr) c.5411T>A (p.Phe1804Tyr) c.4385T>A (p.Phe1462Tyr) c.3966T>A c.3527T>A (p.Phe1176Tyr) c.*1344T>A (n.*1344T>A) c.4680T>A c.5453T>A (p.Phe1818Tyr) c.5450T>A (p.Phe1817Tyr) c.5405T>A (p.Phe1802Tyr) c.4529T>A (p.Phe1510Tyr) c.4298T>A (p.Phe1433Tyr) | |
10 | g.94298622T>C | CA377642183 | PLCE1 | c.4487T>C (p.Phe1496Ser) c.*1954T>C (n.*1954T>C) n.2146T>C n.830T>C c.*695T>C (n.*695T>C) c.4439T>C (p.Phe1480Ser) n.9619T>C n.3084T>C c.5279T>C (p.Phe1760Ser) c.5363T>C (p.Phe1788Ser) c.5411T>C (p.Phe1804Ser) c.4385T>C (p.Phe1462Ser) c.3966T>C c.3527T>C (p.Phe1176Ser) c.*1344T>C (n.*1344T>C) c.4680T>C c.5453T>C (p.Phe1818Ser) c.5450T>C (p.Phe1817Ser) c.5405T>C (p.Phe1802Ser) c.4529T>C (p.Phe1510Ser) c.4298T>C (p.Phe1433Ser) | |
10 | g.94298622T>G | CA377642185 | PLCE1 | c.4487T>G (p.Phe1496Cys) c.*1954T>G (n.*1954T>G) n.2146T>G n.830T>G c.*695T>G (n.*695T>G) c.4439T>G (p.Phe1480Cys) n.9619T>G n.3084T>G c.5279T>G (p.Phe1760Cys) c.5363T>G (p.Phe1788Cys) c.5411T>G (p.Phe1804Cys) c.4385T>G (p.Phe1462Cys) c.3966T>G c.3527T>G (p.Phe1176Cys) c.*1344T>G (n.*1344T>G) c.4680T>G c.5453T>G (p.Phe1818Cys) c.5450T>G (p.Phe1817Cys) c.5405T>G (p.Phe1802Cys) c.4529T>G (p.Phe1510Cys) c.4298T>G (p.Phe1433Cys) | |
10 | g.94298623C>A | CA377642187 | PLCE1 | c.4488C>A (p.Phe1496Leu) c.*1955C>A (n.*1955C>A) n.2147C>A n.831C>A c.*696C>A (n.*696C>A) c.4440C>A (p.Phe1480Leu) n.9620C>A n.3085C>A c.5280C>A (p.Phe1760Leu) c.5364C>A (p.Phe1788Leu) c.5412C>A (p.Phe1804Leu) c.4386C>A (p.Phe1462Leu) c.3967C>A c.3528C>A (p.Phe1176Leu) c.*1345C>A (n.*1345C>A) c.4681C>A c.5454C>A (p.Phe1818Leu) c.5451C>A (p.Phe1817Leu) c.5406C>A (p.Phe1802Leu) c.4530C>A (p.Phe1510Leu) c.4299C>A (p.Phe1433Leu) | |
10 | g.94298623C>G | CA377642188 | PLCE1 | c.4488C>G (p.Phe1496Leu) c.*1955C>G (n.*1955C>G) n.2147C>G n.831C>G c.*696C>G (n.*696C>G) c.4440C>G (p.Phe1480Leu) n.9620C>G n.3085C>G c.5280C>G (p.Phe1760Leu) c.5364C>G (p.Phe1788Leu) c.5412C>G (p.Phe1804Leu) c.4386C>G (p.Phe1462Leu) c.3967C>G c.3528C>G (p.Phe1176Leu) c.*1345C>G (n.*1345C>G) c.4681C>G c.5454C>G (p.Phe1818Leu) c.5451C>G (p.Phe1817Leu) c.5406C>G (p.Phe1802Leu) c.4530C>G (p.Phe1510Leu) c.4299C>G (p.Phe1433Leu) | |
10 | g.94298623C>T | CA470986626 | PLCE1 | c.4488C>T (p.Phe1496=) c.*1955C>T (n.*1955C>T) n.2147C>T n.831C>T c.*696C>T (n.*696C>T) c.4440C>T (p.Phe1480=) n.9620C>T n.3085C>T c.5280C>T (p.Phe1760=) c.5364C>T (p.Phe1788=) c.5412C>T (p.Phe1804=) c.4386C>T (p.Phe1462=) c.3967C>T c.3528C>T (p.Phe1176=) c.*1345C>T (n.*1345C>T) c.4681C>T c.5454C>T (p.Phe1818=) c.5451C>T (p.Phe1817=) c.5406C>T (p.Phe1802=) c.4530C>T (p.Phe1510=) c.4299C>T (p.Phe1433=) | |
10 | g.94298624T>A | CA377642190 | PLCE1 | c.4489T>A (p.Trp1497Arg) c.*1956T>A (n.*1956T>A) n.2148T>A n.832T>A c.*697T>A (n.*697T>A) c.4441T>A (p.Trp1481Arg) n.9621T>A n.3086T>A c.5281T>A (p.Trp1761Arg) c.5365T>A (p.Trp1789Arg) c.5413T>A (p.Trp1805Arg) c.4387T>A (p.Trp1463Arg) c.3968T>A c.3529T>A (p.Trp1177Arg) c.*1346T>A (n.*1346T>A) c.4682T>A c.5455T>A (p.Trp1819Arg) c.5452T>A (p.Trp1818Arg) c.5407T>A (p.Trp1803Arg) c.4531T>A (p.Trp1511Arg) c.4300T>A (p.Trp1434Arg) | |
10 | g.94298624T>C | CA211599821 | PLCE1 | c.4489T>C (p.Trp1497Arg) c.*1956T>C (n.*1956T>C) n.2148T>C n.832T>C c.*697T>C (n.*697T>C) c.4441T>C (p.Trp1481Arg) n.9621T>C n.3086T>C c.5281T>C (p.Trp1761Arg) c.5365T>C (p.Trp1789Arg) c.5413T>C (p.Trp1805Arg) c.4387T>C (p.Trp1463Arg) c.3968T>C c.3529T>C (p.Trp1177Arg) c.*1346T>C (n.*1346T>C) c.4682T>C c.5455T>C (p.Trp1819Arg) c.5452T>C (p.Trp1818Arg) c.5407T>C (p.Trp1803Arg) c.4531T>C (p.Trp1511Arg) c.4300T>C (p.Trp1434Arg) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298624T>G | CA377642193 | PLCE1 | c.4489T>G (p.Trp1497Gly) c.*1956T>G (n.*1956T>G) n.2148T>G n.832T>G c.*697T>G (n.*697T>G) c.4441T>G (p.Trp1481Gly) n.9621T>G n.3086T>G c.5281T>G (p.Trp1761Gly) c.5365T>G (p.Trp1789Gly) c.5413T>G (p.Trp1805Gly) c.4387T>G (p.Trp1463Gly) c.3968T>G c.3529T>G (p.Trp1177Gly) c.*1346T>G (n.*1346T>G) c.4682T>G c.5455T>G (p.Trp1819Gly) c.5452T>G (p.Trp1818Gly) c.5407T>G (p.Trp1803Gly) c.4531T>G (p.Trp1511Gly) c.4300T>G (p.Trp1434Gly) | |
10 | g.94298624T= | CA1928998461 | PLCE1 | c.4489T= (p.Trp1497=) c.*1956T= (n.*1956T=) n.2148T= n.832T= c.*697T= (n.*697T=) c.4441T= (p.Trp1481=) n.9621T= n.3086T= c.5281T= (p.Trp1761=) c.5365T= (p.Trp1789=) c.5413T= (p.Trp1805=) c.4387T= (p.Trp1463=) c.3968T= c.3529T= (p.Trp1177=) c.*1346T= (n.*1346T=) c.4682T= c.5455T= (p.Trp1819=) c.5452T= (p.Trp1818=) c.5407T= (p.Trp1803=) c.4531T= (p.Trp1511=) c.4300T= (p.Trp1434=) | |
10 | g.94298625G>A | CA377642199 | PLCE1 | c.4490G>A (p.Trp1497Ter) c.*1957G>A (n.*1957G>A) n.2149G>A n.833G>A c.*698G>A (n.*698G>A) c.4442G>A (p.Trp1481Ter) n.9622G>A n.3087G>A c.5282G>A (p.Trp1761Ter) c.5366G>A (p.Trp1789Ter) c.5414G>A (p.Trp1805Ter) c.4388G>A (p.Trp1463Ter) c.3969G>A c.3530G>A (p.Trp1177Ter) c.*1347G>A (n.*1347G>A) c.4683G>A c.5456G>A (p.Trp1819Ter) c.5453G>A (p.Trp1818Ter) c.5408G>A (p.Trp1803Ter) c.4532G>A (p.Trp1511Ter) c.4301G>A (p.Trp1434Ter) | |
10 | g.94298625G>C | CA377642196 | PLCE1 | c.4490G>C (p.Trp1497Ser) c.*1957G>C (n.*1957G>C) n.2149G>C n.833G>C c.*698G>C (n.*698G>C) c.4442G>C (p.Trp1481Ser) n.9622G>C n.3087G>C c.5282G>C (p.Trp1761Ser) c.5366G>C (p.Trp1789Ser) c.5414G>C (p.Trp1805Ser) c.4388G>C (p.Trp1463Ser) c.3969G>C c.3530G>C (p.Trp1177Ser) c.*1347G>C (n.*1347G>C) c.4683G>C c.5456G>C (p.Trp1819Ser) c.5453G>C (p.Trp1818Ser) c.5408G>C (p.Trp1803Ser) c.4532G>C (p.Trp1511Ser) c.4301G>C (p.Trp1434Ser) | |
10 | g.94298625G>T | CA377642194 | PLCE1 | c.4490G>T (p.Trp1497Leu) c.*1957G>T (n.*1957G>T) n.2149G>T n.833G>T c.*698G>T (n.*698G>T) c.4442G>T (p.Trp1481Leu) n.9622G>T n.3087G>T c.5282G>T (p.Trp1761Leu) c.5366G>T (p.Trp1789Leu) c.5414G>T (p.Trp1805Leu) c.4388G>T (p.Trp1463Leu) c.3969G>T c.3530G>T (p.Trp1177Leu) c.*1347G>T (n.*1347G>T) c.4683G>T c.5456G>T (p.Trp1819Leu) c.5453G>T (p.Trp1818Leu) c.5408G>T (p.Trp1803Leu) c.4532G>T (p.Trp1511Leu) c.4301G>T (p.Trp1434Leu) | |
10 | g.94298626G>A | CA377642201 | PLCE1 | c.4491G>A (p.Trp1497Ter) c.*1958G>A (n.*1958G>A) n.2150G>A n.834G>A c.*699G>A (n.*699G>A) c.4443G>A (p.Trp1481Ter) n.9623G>A n.3088G>A c.5283G>A (p.Trp1761Ter) c.5367G>A (p.Trp1789Ter) c.5415G>A (p.Trp1805Ter) c.4389G>A (p.Trp1463Ter) c.3970G>A c.3531G>A (p.Trp1177Ter) c.*1348G>A (n.*1348G>A) c.4684G>A c.5457G>A (p.Trp1819Ter) c.5454G>A (p.Trp1818Ter) c.5409G>A (p.Trp1803Ter) c.4533G>A (p.Trp1511Ter) c.4302G>A (p.Trp1434Ter) | |
10 | g.94298626G>C | CA377642205 | PLCE1 | c.4491G>C (p.Trp1497Cys) c.*1958G>C (n.*1958G>C) n.2150G>C n.834G>C c.*699G>C (n.*699G>C) c.4443G>C (p.Trp1481Cys) n.9623G>C n.3088G>C c.5283G>C (p.Trp1761Cys) c.5367G>C (p.Trp1789Cys) c.5415G>C (p.Trp1805Cys) c.4389G>C (p.Trp1463Cys) c.3970G>C c.3531G>C (p.Trp1177Cys) c.*1348G>C (n.*1348G>C) c.4684G>C c.5457G>C (p.Trp1819Cys) c.5454G>C (p.Trp1818Cys) c.5409G>C (p.Trp1803Cys) c.4533G>C (p.Trp1511Cys) c.4302G>C (p.Trp1434Cys) | |
10 | g.94298626G>T | CA377642203 | PLCE1 | c.4491G>T (p.Trp1497Cys) c.*1958G>T (n.*1958G>T) n.2150G>T n.834G>T c.*699G>T (n.*699G>T) c.4443G>T (p.Trp1481Cys) n.9623G>T n.3088G>T c.5283G>T (p.Trp1761Cys) c.5367G>T (p.Trp1789Cys) c.5415G>T (p.Trp1805Cys) c.4389G>T (p.Trp1463Cys) c.3970G>T c.3531G>T (p.Trp1177Cys) c.*1348G>T (n.*1348G>T) c.4684G>T c.5457G>T (p.Trp1819Cys) c.5454G>T (p.Trp1818Cys) c.5409G>T (p.Trp1803Cys) c.4533G>T (p.Trp1511Cys) c.4302G>T (p.Trp1434Cys) | gnomAD v4 |
10 | g.94298627C>A | CA377642207 | PLCE1 | c.4492C>A (p.Leu1498Ile) c.*1959C>A (n.*1959C>A) n.2151C>A n.835C>A c.*700C>A (n.*700C>A) c.4444C>A (p.Leu1482Ile) n.9624C>A n.3089C>A c.5284C>A (p.Leu1762Ile) c.5368C>A (p.Leu1790Ile) c.5416C>A (p.Leu1806Ile) c.4390C>A (p.Leu1464Ile) c.3971C>A c.3532C>A (p.Leu1178Ile) c.*1349C>A (n.*1349C>A) c.4685C>A c.5458C>A (p.Leu1820Ile) c.5455C>A (p.Leu1819Ile) c.5410C>A (p.Leu1804Ile) c.4534C>A (p.Leu1512Ile) c.4303C>A (p.Leu1435Ile) | |
10 | g.94298627C= | CA1928998462 | PLCE1 | c.4492C= (p.Leu1498=) c.*1959C= (n.*1959C=) n.2151C= n.835C= c.*700C= (n.*700C=) c.4444C= (p.Leu1482=) n.9624C= n.3089C= c.5284C= (p.Leu1762=) c.5368C= (p.Leu1790=) c.5416C= (p.Leu1806=) c.4390C= (p.Leu1464=) c.3971C= c.3532C= (p.Leu1178=) c.*1349C= (n.*1349C=) c.4685C= c.5458C= (p.Leu1820=) c.5455C= (p.Leu1819=) c.5410C= (p.Leu1804=) c.4534C= (p.Leu1512=) c.4303C= (p.Leu1435=) | |
10 | g.94298627C>G | CA377642209 | PLCE1 | c.4492C>G (p.Leu1498Val) c.*1959C>G (n.*1959C>G) n.2151C>G n.835C>G c.*700C>G (n.*700C>G) c.4444C>G (p.Leu1482Val) n.9624C>G n.3089C>G c.5284C>G (p.Leu1762Val) c.5368C>G (p.Leu1790Val) c.5416C>G (p.Leu1806Val) c.4390C>G (p.Leu1464Val) c.3971C>G c.3532C>G (p.Leu1178Val) c.*1349C>G (n.*1349C>G) c.4685C>G c.5458C>G (p.Leu1820Val) c.5455C>G (p.Leu1819Val) c.5410C>G (p.Leu1804Val) c.4534C>G (p.Leu1512Val) c.4303C>G (p.Leu1435Val) | dbSNP |
10 | g.94298627C>T | CA211599825 | PLCE1 | c.4492C>T (p.Leu1498Phe) c.*1959C>T (n.*1959C>T) n.2151C>T n.835C>T c.*700C>T (n.*700C>T) c.4444C>T (p.Leu1482Phe) n.9624C>T n.3089C>T c.5284C>T (p.Leu1762Phe) c.5368C>T (p.Leu1790Phe) c.5416C>T (p.Leu1806Phe) c.4390C>T (p.Leu1464Phe) c.3971C>T c.3532C>T (p.Leu1178Phe) c.*1349C>T (n.*1349C>T) c.4685C>T c.5458C>T (p.Leu1820Phe) c.5455C>T (p.Leu1819Phe) c.5410C>T (p.Leu1804Phe) c.4534C>T (p.Leu1512Phe) c.4303C>T (p.Leu1435Phe) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298628T>A | CA377642212 | PLCE1 | c.4493T>A (p.Leu1498His) c.*1960T>A (n.*1960T>A) n.2152T>A n.836T>A c.*701T>A (n.*701T>A) c.4445T>A (p.Leu1482His) n.9625T>A n.3090T>A c.5285T>A (p.Leu1762His) c.5369T>A (p.Leu1790His) c.5417T>A (p.Leu1806His) c.4391T>A (p.Leu1464His) c.3972T>A c.3533T>A (p.Leu1178His) c.*1350T>A (n.*1350T>A) c.4686T>A c.5459T>A (p.Leu1820His) c.5456T>A (p.Leu1819His) c.5411T>A (p.Leu1804His) c.4535T>A (p.Leu1512His) c.4304T>A (p.Leu1435His) | |
10 | g.94298628T>C | CA5613353 | PLCE1 | c.4493T>C (p.Leu1498Pro) c.*1960T>C (n.*1960T>C) n.2152T>C n.836T>C c.*701T>C (n.*701T>C) c.4445T>C (p.Leu1482Pro) n.9625T>C n.3090T>C c.5285T>C (p.Leu1762Pro) c.5369T>C (p.Leu1790Pro) c.5417T>C (p.Leu1806Pro) c.4391T>C (p.Leu1464Pro) c.3972T>C c.3533T>C (p.Leu1178Pro) c.*1350T>C (n.*1350T>C) c.4686T>C c.5459T>C (p.Leu1820Pro) c.5456T>C (p.Leu1819Pro) c.5411T>C (p.Leu1804Pro) c.4535T>C (p.Leu1512Pro) c.4304T>C (p.Leu1435Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298628T>G | CA377642213 | PLCE1 | c.4493T>G (p.Leu1498Arg) c.*1960T>G (n.*1960T>G) n.2152T>G n.836T>G c.*701T>G (n.*701T>G) c.4445T>G (p.Leu1482Arg) n.9625T>G n.3090T>G c.5285T>G (p.Leu1762Arg) c.5369T>G (p.Leu1790Arg) c.5417T>G (p.Leu1806Arg) c.4391T>G (p.Leu1464Arg) c.3972T>G c.3533T>G (p.Leu1178Arg) c.*1350T>G (n.*1350T>G) c.4686T>G c.5459T>G (p.Leu1820Arg) c.5456T>G (p.Leu1819Arg) c.5411T>G (p.Leu1804Arg) c.4535T>G (p.Leu1512Arg) c.4304T>G (p.Leu1435Arg) | |
10 | g.94298628T= | CA1928998463 | PLCE1 | c.4493T= (p.Leu1498=) c.*1960T= (n.*1960T=) n.2152T= n.836T= c.*701T= (n.*701T=) c.4445T= (p.Leu1482=) n.9625T= n.3090T= c.5285T= (p.Leu1762=) c.5369T= (p.Leu1790=) c.5417T= (p.Leu1806=) c.4391T= (p.Leu1464=) c.3972T= c.3533T= (p.Leu1178=) c.*1350T= (n.*1350T=) c.4686T= c.5459T= (p.Leu1820=) c.5456T= (p.Leu1819=) c.5411T= (p.Leu1804=) c.4535T= (p.Leu1512=) c.4304T= (p.Leu1435=) |