| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94298398A>C | CA470986406 | PLCE1 | c.4263A>C (p.Arg1421=) c.*1730A>C (n.*1730A>C) n.1922A>C n.606A>C c.*471A>C (n.*471A>C) c.4215A>C (p.Arg1405=) n.9395A>C n.2860A>C c.5055A>C (p.Arg1685=) c.5139A>C (p.Arg1713=) c.5187A>C (p.Arg1729=) c.4161A>C (p.Arg1387=) c.3742A>C c.3303A>C (p.Arg1101=) c.*1120A>C (n.*1120A>C) c.4456A>C c.4032A>C (p.Arg1344=) c.5229A>C (p.Arg1743=) c.5226A>C (p.Arg1742=) c.5181A>C (p.Arg1727=) c.4305A>C (p.Arg1435=) c.4074A>C (p.Arg1358=) | |
| 10 | g.94298398A>G | CA470986407 | PLCE1 | c.4263A>G (p.Arg1421=) c.*1730A>G (n.*1730A>G) n.1922A>G n.606A>G c.*471A>G (n.*471A>G) c.4215A>G (p.Arg1405=) n.9395A>G n.2860A>G c.5055A>G (p.Arg1685=) c.5139A>G (p.Arg1713=) c.5187A>G (p.Arg1729=) c.4161A>G (p.Arg1387=) c.3742A>G c.3303A>G (p.Arg1101=) c.*1120A>G (n.*1120A>G) c.4456A>G c.4032A>G (p.Arg1344=) c.5229A>G (p.Arg1743=) c.5226A>G (p.Arg1742=) c.5181A>G (p.Arg1727=) c.4305A>G (p.Arg1435=) c.4074A>G (p.Arg1358=) | gnomAD v4 |
| 10 | g.94298398A>T | CA470986404 | PLCE1 | c.4263A>T (p.Arg1421=) c.*1730A>T (n.*1730A>T) n.1922A>T n.606A>T c.*471A>T (n.*471A>T) c.4215A>T (p.Arg1405=) n.9395A>T n.2860A>T c.5055A>T (p.Arg1685=) c.5139A>T (p.Arg1713=) c.5187A>T (p.Arg1729=) c.4161A>T (p.Arg1387=) c.3742A>T c.3303A>T (p.Arg1101=) c.*1120A>T (n.*1120A>T) c.4456A>T c.4032A>T (p.Arg1344=) c.5229A>T (p.Arg1743=) c.5226A>T (p.Arg1742=) c.5181A>T (p.Arg1727=) c.4305A>T (p.Arg1435=) c.4074A>T (p.Arg1358=) | |
| 10 | g.94298399C>A | CA377641691 | PLCE1 | c.4264C>A (p.Gln1422Lys) c.*1731C>A (n.*1731C>A) n.1923C>A n.607C>A c.*472C>A (n.*472C>A) c.4216C>A (p.Gln1406Lys) n.9396C>A n.2861C>A c.5056C>A (p.Gln1686Lys) c.5140C>A (p.Gln1714Lys) c.5188C>A (p.Gln1730Lys) c.4162C>A (p.Gln1388Lys) c.3743C>A c.3304C>A (p.Gln1102Lys) c.*1121C>A (n.*1121C>A) c.4457C>A c.4033C>A (p.Gln1345Lys) c.5230C>A (p.Gln1744Lys) c.5227C>A (p.Gln1743Lys) c.5182C>A (p.Gln1728Lys) c.4306C>A (p.Gln1436Lys) c.4075C>A (p.Gln1359Lys) | |
| 10 | g.94298399C= | CA1928998373 | PLCE1 | c.4264C= (p.Gln1422=) c.*1731C= (n.*1731C=) n.1923C= n.607C= c.*472C= (n.*472C=) c.4216C= (p.Gln1406=) n.9396C= n.2861C= c.5056C= (p.Gln1686=) c.5140C= (p.Gln1714=) c.5188C= (p.Gln1730=) c.4162C= (p.Gln1388=) c.3743C= c.3304C= (p.Gln1102=) c.*1121C= (n.*1121C=) c.4457C= c.4033C= (p.Gln1345=) c.5230C= (p.Gln1744=) c.5227C= (p.Gln1743=) c.5182C= (p.Gln1728=) c.4306C= (p.Gln1436=) c.4075C= (p.Gln1359=) | |
| 10 | g.94298399C>G | CA211599558 | PLCE1 | c.4264C>G (p.Gln1422Glu) c.*1731C>G (n.*1731C>G) n.1923C>G n.607C>G c.*472C>G (n.*472C>G) c.4216C>G (p.Gln1406Glu) n.9396C>G n.2861C>G c.5056C>G (p.Gln1686Glu) c.5140C>G (p.Gln1714Glu) c.5188C>G (p.Gln1730Glu) c.4162C>G (p.Gln1388Glu) c.3743C>G c.3304C>G (p.Gln1102Glu) c.*1121C>G (n.*1121C>G) c.4457C>G c.4033C>G (p.Gln1345Glu) c.5230C>G (p.Gln1744Glu) c.5227C>G (p.Gln1743Glu) c.5182C>G (p.Gln1728Glu) c.4306C>G (p.Gln1436Glu) c.4075C>G (p.Gln1359Glu) | dbSNP |
| 10 | g.94298399C>T | CA377641692 | PLCE1 | c.4264C>T (p.Gln1422Ter) c.*1731C>T (n.*1731C>T) n.1923C>T n.607C>T c.*472C>T (n.*472C>T) c.4216C>T (p.Gln1406Ter) n.9396C>T n.2861C>T c.5056C>T (p.Gln1686Ter) c.5140C>T (p.Gln1714Ter) c.5188C>T (p.Gln1730Ter) c.4162C>T (p.Gln1388Ter) c.3743C>T c.3304C>T (p.Gln1102Ter) c.*1121C>T (n.*1121C>T) c.4457C>T c.4033C>T (p.Gln1345Ter) c.5230C>T (p.Gln1744Ter) c.5227C>T (p.Gln1743Ter) c.5182C>T (p.Gln1728Ter) c.4306C>T (p.Gln1436Ter) c.4075C>T (p.Gln1359Ter) | |
| 10 | g.94298400A>C | CA377641693 | PLCE1 | c.4265A>C (p.Gln1422Pro) c.*1732A>C (n.*1732A>C) n.1924A>C n.608A>C c.*473A>C (n.*473A>C) c.4217A>C (p.Gln1406Pro) n.9397A>C n.2862A>C c.5057A>C (p.Gln1686Pro) c.5141A>C (p.Gln1714Pro) c.5189A>C (p.Gln1730Pro) c.4163A>C (p.Gln1388Pro) c.3744A>C c.3305A>C (p.Gln1102Pro) c.*1122A>C (n.*1122A>C) c.4458A>C c.4034A>C (p.Gln1345Pro) c.5231A>C (p.Gln1744Pro) c.5228A>C (p.Gln1743Pro) c.5183A>C (p.Gln1728Pro) c.4307A>C (p.Gln1436Pro) c.4076A>C (p.Gln1359Pro) | |
| 10 | g.94298400A>G | CA377641694 | PLCE1 | c.4265A>G (p.Gln1422Arg) c.*1732A>G (n.*1732A>G) n.1924A>G n.608A>G c.*473A>G (n.*473A>G) c.4217A>G (p.Gln1406Arg) n.9397A>G n.2862A>G c.5057A>G (p.Gln1686Arg) c.5141A>G (p.Gln1714Arg) c.5189A>G (p.Gln1730Arg) c.4163A>G (p.Gln1388Arg) c.3744A>G c.3305A>G (p.Gln1102Arg) c.*1122A>G (n.*1122A>G) c.4458A>G c.4034A>G (p.Gln1345Arg) c.5231A>G (p.Gln1744Arg) c.5228A>G (p.Gln1743Arg) c.5183A>G (p.Gln1728Arg) c.4307A>G (p.Gln1436Arg) c.4076A>G (p.Gln1359Arg) | |
| 10 | g.94298400A>T | CA377641695 | PLCE1 | c.4265A>T (p.Gln1422Leu) c.*1732A>T (n.*1732A>T) n.1924A>T n.608A>T c.*473A>T (n.*473A>T) c.4217A>T (p.Gln1406Leu) n.9397A>T n.2862A>T c.5057A>T (p.Gln1686Leu) c.5141A>T (p.Gln1714Leu) c.5189A>T (p.Gln1730Leu) c.4163A>T (p.Gln1388Leu) c.3744A>T c.3305A>T (p.Gln1102Leu) c.*1122A>T (n.*1122A>T) c.4458A>T c.4034A>T (p.Gln1345Leu) c.5231A>T (p.Gln1744Leu) c.5228A>T (p.Gln1743Leu) c.5183A>T (p.Gln1728Leu) c.4307A>T (p.Gln1436Leu) c.4076A>T (p.Gln1359Leu) | |
| 10 | g.94298401G>A | CA470986409 | PLCE1 | c.4266G>A (p.Gln1422=) c.*1733G>A (n.*1733G>A) n.1925G>A n.609G>A c.*474G>A (n.*474G>A) c.4218G>A (p.Gln1406=) n.9398G>A n.2863G>A c.5058G>A (p.Gln1686=) c.5142G>A (p.Gln1714=) c.5190G>A (p.Gln1730=) c.4164G>A (p.Gln1388=) c.3745G>A c.3306G>A (p.Gln1102=) c.*1123G>A (n.*1123G>A) c.4459G>A c.4035G>A (p.Gln1345=) c.5232G>A (p.Gln1744=) c.5229G>A (p.Gln1743=) c.5184G>A (p.Gln1728=) c.4308G>A (p.Gln1436=) c.4077G>A (p.Gln1359=) | |
| 10 | g.94298401G>C | CA377641697 | PLCE1 | c.4266G>C (p.Gln1422His) c.*1733G>C (n.*1733G>C) n.1925G>C n.609G>C c.*474G>C (n.*474G>C) c.4218G>C (p.Gln1406His) n.9398G>C n.2863G>C c.5058G>C (p.Gln1686His) c.5142G>C (p.Gln1714His) c.5190G>C (p.Gln1730His) c.4164G>C (p.Gln1388His) c.3745G>C c.3306G>C (p.Gln1102His) c.*1123G>C (n.*1123G>C) c.4459G>C c.4035G>C (p.Gln1345His) c.5232G>C (p.Gln1744His) c.5229G>C (p.Gln1743His) c.5184G>C (p.Gln1728His) c.4308G>C (p.Gln1436His) c.4077G>C (p.Gln1359His) | |
| 10 | g.94298401G>T | CA377641696 | PLCE1 | c.4266G>T (p.Gln1422His) c.*1733G>T (n.*1733G>T) n.1925G>T n.609G>T c.*474G>T (n.*474G>T) c.4218G>T (p.Gln1406His) n.9398G>T n.2863G>T c.5058G>T (p.Gln1686His) c.5142G>T (p.Gln1714His) c.5190G>T (p.Gln1730His) c.4164G>T (p.Gln1388His) c.3745G>T c.3306G>T (p.Gln1102His) c.*1123G>T (n.*1123G>T) c.4459G>T c.4035G>T (p.Gln1345His) c.5232G>T (p.Gln1744His) c.5229G>T (p.Gln1743His) c.5184G>T (p.Gln1728His) c.4308G>T (p.Gln1436His) c.4077G>T (p.Gln1359His) | |
| 10 | g.94298402A>C | CA377641698 | PLCE1 | c.4267A>C (p.Thr1423Pro) c.*1734A>C (n.*1734A>C) n.1926A>C n.610A>C c.*475A>C (n.*475A>C) c.4219A>C (p.Thr1407Pro) n.9399A>C n.2864A>C c.5059A>C (p.Thr1687Pro) c.5143A>C (p.Thr1715Pro) c.5191A>C (p.Thr1731Pro) c.4165A>C (p.Thr1389Pro) c.3746A>C c.3307A>C (p.Thr1103Pro) c.*1124A>C (n.*1124A>C) c.4460A>C c.4036A>C (p.Thr1346Pro) c.5233A>C (p.Thr1745Pro) c.5230A>C (p.Thr1744Pro) c.5185A>C (p.Thr1729Pro) c.4309A>C (p.Thr1437Pro) c.4078A>C (p.Thr1360Pro) | |
| 10 | g.94298402A>G | CA377641699 | PLCE1 | c.4267A>G (p.Thr1423Ala) c.*1734A>G (n.*1734A>G) n.1926A>G n.610A>G c.*475A>G (n.*475A>G) c.4219A>G (p.Thr1407Ala) n.9399A>G n.2864A>G c.5059A>G (p.Thr1687Ala) c.5143A>G (p.Thr1715Ala) c.5191A>G (p.Thr1731Ala) c.4165A>G (p.Thr1389Ala) c.3746A>G c.3307A>G (p.Thr1103Ala) c.*1124A>G (n.*1124A>G) c.4460A>G c.4036A>G (p.Thr1346Ala) c.5233A>G (p.Thr1745Ala) c.5230A>G (p.Thr1744Ala) c.5185A>G (p.Thr1729Ala) c.4309A>G (p.Thr1437Ala) c.4078A>G (p.Thr1360Ala) | |
| 10 | g.94298402A>T | CA377641700 | PLCE1 | c.4267A>T (p.Thr1423Ser) c.*1734A>T (n.*1734A>T) n.1926A>T n.610A>T c.*475A>T (n.*475A>T) c.4219A>T (p.Thr1407Ser) n.9399A>T n.2864A>T c.5059A>T (p.Thr1687Ser) c.5143A>T (p.Thr1715Ser) c.5191A>T (p.Thr1731Ser) c.4165A>T (p.Thr1389Ser) c.3746A>T c.3307A>T (p.Thr1103Ser) c.*1124A>T (n.*1124A>T) c.4460A>T c.4036A>T (p.Thr1346Ser) c.5233A>T (p.Thr1745Ser) c.5230A>T (p.Thr1744Ser) c.5185A>T (p.Thr1729Ser) c.4309A>T (p.Thr1437Ser) c.4078A>T (p.Thr1360Ser) | |
| 10 | g.94298403C>A | CA377641701 | PLCE1 | c.4268C>A (p.Thr1423Asn) c.*1735C>A (n.*1735C>A) n.1927C>A n.611C>A c.*476C>A (n.*476C>A) c.4220C>A (p.Thr1407Asn) n.9400C>A n.2865C>A c.5060C>A (p.Thr1687Asn) c.5144C>A (p.Thr1715Asn) c.5192C>A (p.Thr1731Asn) c.4166C>A (p.Thr1389Asn) c.3747C>A c.3308C>A (p.Thr1103Asn) c.*1125C>A (n.*1125C>A) c.4461C>A c.4037C>A (p.Thr1346Asn) c.5234C>A (p.Thr1745Asn) c.5231C>A (p.Thr1744Asn) c.5186C>A (p.Thr1729Asn) c.4310C>A (p.Thr1437Asn) c.4079C>A (p.Thr1360Asn) | gnomAD v4 |
| 10 | g.94298403C= | CA1928998374 | PLCE1 | c.4268C= (p.Thr1423=) c.*1735C= (n.*1735C=) n.1927C= n.611C= c.*476C= (n.*476C=) c.4220C= (p.Thr1407=) n.9400C= n.2865C= c.5060C= (p.Thr1687=) c.5144C= (p.Thr1715=) c.5192C= (p.Thr1731=) c.4166C= (p.Thr1389=) c.3747C= c.3308C= (p.Thr1103=) c.*1125C= (n.*1125C=) c.4461C= c.4037C= (p.Thr1346=) c.5234C= (p.Thr1745=) c.5231C= (p.Thr1744=) c.5186C= (p.Thr1729=) c.4310C= (p.Thr1437=) c.4079C= (p.Thr1360=) | |
| 10 | g.94298403C>G | CA377641702 | PLCE1 | c.4268C>G (p.Thr1423Ser) c.*1735C>G (n.*1735C>G) n.1927C>G n.611C>G c.*476C>G (n.*476C>G) c.4220C>G (p.Thr1407Ser) n.9400C>G n.2865C>G c.5060C>G (p.Thr1687Ser) c.5144C>G (p.Thr1715Ser) c.5192C>G (p.Thr1731Ser) c.4166C>G (p.Thr1389Ser) c.3747C>G c.3308C>G (p.Thr1103Ser) c.*1125C>G (n.*1125C>G) c.4461C>G c.4037C>G (p.Thr1346Ser) c.5234C>G (p.Thr1745Ser) c.5231C>G (p.Thr1744Ser) c.5186C>G (p.Thr1729Ser) c.4310C>G (p.Thr1437Ser) c.4079C>G (p.Thr1360Ser) | |
| 10 | g.94298403C>T | CA377641703 | PLCE1 | c.4268C>T (p.Thr1423Ile) c.*1735C>T (n.*1735C>T) n.1927C>T n.611C>T c.*476C>T (n.*476C>T) c.4220C>T (p.Thr1407Ile) n.9400C>T n.2865C>T c.5060C>T (p.Thr1687Ile) c.5144C>T (p.Thr1715Ile) c.5192C>T (p.Thr1731Ile) c.4166C>T (p.Thr1389Ile) c.3747C>T c.3308C>T (p.Thr1103Ile) c.*1125C>T (n.*1125C>T) c.4461C>T c.4037C>T (p.Thr1346Ile) c.5234C>T (p.Thr1745Ile) c.5231C>T (p.Thr1744Ile) c.5186C>T (p.Thr1729Ile) c.4310C>T (p.Thr1437Ile) c.4079C>T (p.Thr1360Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94298404C>A | CA470986411 | PLCE1 | c.4269C>A (p.Thr1423=) c.*1736C>A (n.*1736C>A) n.1928C>A n.612C>A c.*477C>A (n.*477C>A) c.4221C>A (p.Thr1407=) n.9401C>A n.2866C>A c.5061C>A (p.Thr1687=) c.5145C>A (p.Thr1715=) c.5193C>A (p.Thr1731=) c.4167C>A (p.Thr1389=) c.3748C>A c.3309C>A (p.Thr1103=) c.*1126C>A (n.*1126C>A) c.4462C>A c.4038C>A (p.Thr1346=) c.5235C>A (p.Thr1745=) c.5232C>A (p.Thr1744=) c.5187C>A (p.Thr1729=) c.4311C>A (p.Thr1437=) c.4080C>A (p.Thr1360=) | |
| 10 | g.94298404C= | CA1928998375 | PLCE1 | c.4269C= (p.Thr1423=) c.*1736C= (n.*1736C=) n.1928C= n.612C= c.*477C= (n.*477C=) c.4221C= (p.Thr1407=) n.9401C= n.2866C= c.5061C= (p.Thr1687=) c.5145C= (p.Thr1715=) c.5193C= (p.Thr1731=) c.4167C= (p.Thr1389=) c.3748C= c.3309C= (p.Thr1103=) c.*1126C= (n.*1126C=) c.4462C= c.4038C= (p.Thr1346=) c.5235C= (p.Thr1745=) c.5232C= (p.Thr1744=) c.5187C= (p.Thr1729=) c.4311C= (p.Thr1437=) c.4080C= (p.Thr1360=) | |
| 10 | g.94298404C>G | CA470986413 | PLCE1 | c.4269C>G (p.Thr1423=) c.*1736C>G (n.*1736C>G) n.1928C>G n.612C>G c.*477C>G (n.*477C>G) c.4221C>G (p.Thr1407=) n.9401C>G n.2866C>G c.5061C>G (p.Thr1687=) c.5145C>G (p.Thr1715=) c.5193C>G (p.Thr1731=) c.4167C>G (p.Thr1389=) c.3748C>G c.3309C>G (p.Thr1103=) c.*1126C>G (n.*1126C>G) c.4462C>G c.4038C>G (p.Thr1346=) c.5235C>G (p.Thr1745=) c.5232C>G (p.Thr1744=) c.5187C>G (p.Thr1729=) c.4311C>G (p.Thr1437=) c.4080C>G (p.Thr1360=) | dbSNP gnomAD v2 |
| 10 | g.94298404C>T | CA470986412 | PLCE1 | c.4269C>T (p.Thr1423=) c.*1736C>T (n.*1736C>T) n.1928C>T n.612C>T c.*477C>T (n.*477C>T) c.4221C>T (p.Thr1407=) n.9401C>T n.2866C>T c.5061C>T (p.Thr1687=) c.5145C>T (p.Thr1715=) c.5193C>T (p.Thr1731=) c.4167C>T (p.Thr1389=) c.3748C>T c.3309C>T (p.Thr1103=) c.*1126C>T (n.*1126C>T) c.4462C>T c.4038C>T (p.Thr1346=) c.5235C>T (p.Thr1745=) c.5232C>T (p.Thr1744=) c.5187C>T (p.Thr1729=) c.4311C>T (p.Thr1437=) c.4080C>T (p.Thr1360=) | |
| 10 | g.94298405T>A | CA377641704 | PLCE1 | c.4270T>A (p.Trp1424Arg) c.*1737T>A (n.*1737T>A) n.1929T>A n.613T>A c.*478T>A (n.*478T>A) c.4222T>A (p.Trp1408Arg) n.9402T>A n.2867T>A c.5062T>A (p.Trp1688Arg) c.5146T>A (p.Trp1716Arg) c.5194T>A (p.Trp1732Arg) c.4168T>A (p.Trp1390Arg) c.3749T>A c.3310T>A (p.Trp1104Arg) c.*1127T>A (n.*1127T>A) c.4463T>A c.4039T>A (p.Trp1347Arg) c.5236T>A (p.Trp1746Arg) c.5233T>A (p.Trp1745Arg) c.5188T>A (p.Trp1730Arg) c.4312T>A (p.Trp1438Arg) c.4081T>A (p.Trp1361Arg) | |
| 10 | g.94298405T>C | CA5613315 | PLCE1 | c.4270T>C (p.Trp1424Arg) c.*1737T>C (n.*1737T>C) n.1929T>C n.613T>C c.*478T>C (n.*478T>C) c.4222T>C (p.Trp1408Arg) n.9402T>C n.2867T>C c.5062T>C (p.Trp1688Arg) c.5146T>C (p.Trp1716Arg) c.5194T>C (p.Trp1732Arg) c.4168T>C (p.Trp1390Arg) c.3749T>C c.3310T>C (p.Trp1104Arg) c.*1127T>C (n.*1127T>C) c.4463T>C c.4039T>C (p.Trp1347Arg) c.5236T>C (p.Trp1746Arg) c.5233T>C (p.Trp1745Arg) c.5188T>C (p.Trp1730Arg) c.4312T>C (p.Trp1438Arg) c.4081T>C (p.Trp1361Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.94298405T>G | CA377641705 | PLCE1 | c.4270T>G (p.Trp1424Gly) c.*1737T>G (n.*1737T>G) n.1929T>G n.613T>G c.*478T>G (n.*478T>G) c.4222T>G (p.Trp1408Gly) n.9402T>G n.2867T>G c.5062T>G (p.Trp1688Gly) c.5146T>G (p.Trp1716Gly) c.5194T>G (p.Trp1732Gly) c.4168T>G (p.Trp1390Gly) c.3749T>G c.3310T>G (p.Trp1104Gly) c.*1127T>G (n.*1127T>G) c.4463T>G c.4039T>G (p.Trp1347Gly) c.5236T>G (p.Trp1746Gly) c.5233T>G (p.Trp1745Gly) c.5188T>G (p.Trp1730Gly) c.4312T>G (p.Trp1438Gly) c.4081T>G (p.Trp1361Gly) | |
| 10 | g.94298405T= | CA1928998376 | PLCE1 | c.4270T= (p.Trp1424=) c.*1737T= (n.*1737T=) n.1929T= n.613T= c.*478T= (n.*478T=) c.4222T= (p.Trp1408=) n.9402T= n.2867T= c.5062T= (p.Trp1688=) c.5146T= (p.Trp1716=) c.5194T= (p.Trp1732=) c.4168T= (p.Trp1390=) c.3749T= c.3310T= (p.Trp1104=) c.*1127T= (n.*1127T=) c.4463T= c.4039T= (p.Trp1347=) c.5236T= (p.Trp1746=) c.5233T= (p.Trp1745=) c.5188T= (p.Trp1730=) c.4312T= (p.Trp1438=) c.4081T= (p.Trp1361=) | |
| 10 | g.94298406G>A | CA377641706 | PLCE1 | c.4271G>A (p.Trp1424Ter) c.*1738G>A (n.*1738G>A) n.1930G>A n.614G>A c.*479G>A (n.*479G>A) c.4223G>A (p.Trp1408Ter) n.9403G>A n.2868G>A c.5063G>A (p.Trp1688Ter) c.5147G>A (p.Trp1716Ter) c.5195G>A (p.Trp1732Ter) c.4169G>A (p.Trp1390Ter) c.3750G>A c.3311G>A (p.Trp1104Ter) c.*1128G>A (n.*1128G>A) c.4464G>A c.4040G>A (p.Trp1347Ter) c.5237G>A (p.Trp1746Ter) c.5234G>A (p.Trp1745Ter) c.5189G>A (p.Trp1730Ter) c.4313G>A (p.Trp1438Ter) c.4082G>A (p.Trp1361Ter) | |
| 10 | g.94298406G>C | CA377641707 | PLCE1 | c.4271G>C (p.Trp1424Ser) c.*1738G>C (n.*1738G>C) n.1930G>C n.614G>C c.*479G>C (n.*479G>C) c.4223G>C (p.Trp1408Ser) n.9403G>C n.2868G>C c.5063G>C (p.Trp1688Ser) c.5147G>C (p.Trp1716Ser) c.5195G>C (p.Trp1732Ser) c.4169G>C (p.Trp1390Ser) c.3750G>C c.3311G>C (p.Trp1104Ser) c.*1128G>C (n.*1128G>C) c.4464G>C c.4040G>C (p.Trp1347Ser) c.5237G>C (p.Trp1746Ser) c.5234G>C (p.Trp1745Ser) c.5189G>C (p.Trp1730Ser) c.4313G>C (p.Trp1438Ser) c.4082G>C (p.Trp1361Ser) | |
| 10 | g.94298406G>T | CA377641708 | PLCE1 | c.4271G>T (p.Trp1424Leu) c.*1738G>T (n.*1738G>T) n.1930G>T n.614G>T c.*479G>T (n.*479G>T) c.4223G>T (p.Trp1408Leu) n.9403G>T n.2868G>T c.5063G>T (p.Trp1688Leu) c.5147G>T (p.Trp1716Leu) c.5195G>T (p.Trp1732Leu) c.4169G>T (p.Trp1390Leu) c.3750G>T c.3311G>T (p.Trp1104Leu) c.*1128G>T (n.*1128G>T) c.4464G>T c.4040G>T (p.Trp1347Leu) c.5237G>T (p.Trp1746Leu) c.5234G>T (p.Trp1745Leu) c.5189G>T (p.Trp1730Leu) c.4313G>T (p.Trp1438Leu) c.4082G>T (p.Trp1361Leu) | |
| 10 | g.94298407G>A | CA377641711 | PLCE1 | c.4272G>A (p.Trp1424Ter) c.*1739G>A (n.*1739G>A) n.1931G>A n.615G>A c.*480G>A (n.*480G>A) c.4224G>A (p.Trp1408Ter) n.9404G>A n.2869G>A c.5064G>A (p.Trp1688Ter) c.5148G>A (p.Trp1716Ter) c.5196G>A (p.Trp1732Ter) c.4170G>A (p.Trp1390Ter) c.3751G>A c.3312G>A (p.Trp1104Ter) c.*1129G>A (n.*1129G>A) c.4465G>A c.4041G>A (p.Trp1347Ter) c.5238G>A (p.Trp1746Ter) c.5235G>A (p.Trp1745Ter) c.5190G>A (p.Trp1730Ter) c.4314G>A (p.Trp1438Ter) c.4083G>A (p.Trp1361Ter) | |
| 10 | g.94298407G>C | CA377641710 | PLCE1 | c.4272G>C (p.Trp1424Cys) c.*1739G>C (n.*1739G>C) n.1931G>C n.615G>C c.*480G>C (n.*480G>C) c.4224G>C (p.Trp1408Cys) n.9404G>C n.2869G>C c.5064G>C (p.Trp1688Cys) c.5148G>C (p.Trp1716Cys) c.5196G>C (p.Trp1732Cys) c.4170G>C (p.Trp1390Cys) c.3751G>C c.3312G>C (p.Trp1104Cys) c.*1129G>C (n.*1129G>C) c.4465G>C c.4041G>C (p.Trp1347Cys) c.5238G>C (p.Trp1746Cys) c.5235G>C (p.Trp1745Cys) c.5190G>C (p.Trp1730Cys) c.4314G>C (p.Trp1438Cys) c.4083G>C (p.Trp1361Cys) | |
| 10 | g.94298407G>T | CA377641709 | PLCE1 | c.4272G>T (p.Trp1424Cys) c.*1739G>T (n.*1739G>T) n.1931G>T n.615G>T c.*480G>T (n.*480G>T) c.4224G>T (p.Trp1408Cys) n.9404G>T n.2869G>T c.5064G>T (p.Trp1688Cys) c.5148G>T (p.Trp1716Cys) c.5196G>T (p.Trp1732Cys) c.4170G>T (p.Trp1390Cys) c.3751G>T c.3312G>T (p.Trp1104Cys) c.*1129G>T (n.*1129G>T) c.4465G>T c.4041G>T (p.Trp1347Cys) c.5238G>T (p.Trp1746Cys) c.5235G>T (p.Trp1745Cys) c.5190G>T (p.Trp1730Cys) c.4314G>T (p.Trp1438Cys) c.4083G>T (p.Trp1361Cys) | |
| 10 | g.94298408G>A | CA377641712 | PLCE1 | c.4273G>A (p.Glu1425Lys) c.*1740G>A (n.*1740G>A) n.1932G>A n.616G>A c.*481G>A (n.*481G>A) c.4225G>A (p.Glu1409Lys) n.9405G>A n.2870G>A c.5065G>A (p.Glu1689Lys) c.5149G>A (p.Glu1717Lys) c.5197G>A (p.Glu1733Lys) c.4171G>A (p.Glu1391Lys) c.3752G>A c.3313G>A (p.Glu1105Lys) c.*1130G>A (n.*1130G>A) c.4466G>A c.4042G>A (p.Glu1348Lys) c.5239G>A (p.Glu1747Lys) c.5236G>A (p.Glu1746Lys) c.5191G>A (p.Glu1731Lys) c.4315G>A (p.Glu1439Lys) c.4084G>A (p.Glu1362Lys) | dbSNP |
| 10 | g.94298408G>C | CA377641714 | PLCE1 | c.4273G>C (p.Glu1425Gln) c.*1740G>C (n.*1740G>C) n.1932G>C n.616G>C c.*481G>C (n.*481G>C) c.4225G>C (p.Glu1409Gln) n.9405G>C n.2870G>C c.5065G>C (p.Glu1689Gln) c.5149G>C (p.Glu1717Gln) c.5197G>C (p.Glu1733Gln) c.4171G>C (p.Glu1391Gln) c.3752G>C c.3313G>C (p.Glu1105Gln) c.*1130G>C (n.*1130G>C) c.4466G>C c.4042G>C (p.Glu1348Gln) c.5239G>C (p.Glu1747Gln) c.5236G>C (p.Glu1746Gln) c.5191G>C (p.Glu1731Gln) c.4315G>C (p.Glu1439Gln) c.4084G>C (p.Glu1362Gln) | gnomAD v4 |
| 10 | g.94298408G= | CA1928998377 | PLCE1 | c.4273G= (p.Glu1425=) c.*1740G= (n.*1740G=) n.1932G= n.616G= c.*481G= (n.*481G=) c.4225G= (p.Glu1409=) n.9405G= n.2870G= c.5065G= (p.Glu1689=) c.5149G= (p.Glu1717=) c.5197G= (p.Glu1733=) c.4171G= (p.Glu1391=) c.3752G= c.3313G= (p.Glu1105=) c.*1130G= (n.*1130G=) c.4466G= c.4042G= (p.Glu1348=) c.5239G= (p.Glu1747=) c.5236G= (p.Glu1746=) c.5191G= (p.Glu1731=) c.4315G= (p.Glu1439=) c.4084G= (p.Glu1362=) | |
| 10 | g.94298408G>T | CA377641713 | PLCE1 | c.4273G>T (p.Glu1425Ter) c.*1740G>T (n.*1740G>T) n.1932G>T n.616G>T c.*481G>T (n.*481G>T) c.4225G>T (p.Glu1409Ter) n.9405G>T n.2870G>T c.5065G>T (p.Glu1689Ter) c.5149G>T (p.Glu1717Ter) c.5197G>T (p.Glu1733Ter) c.4171G>T (p.Glu1391Ter) c.3752G>T c.3313G>T (p.Glu1105Ter) c.*1130G>T (n.*1130G>T) c.4466G>T c.4042G>T (p.Glu1348Ter) c.5239G>T (p.Glu1747Ter) c.5236G>T (p.Glu1746Ter) c.5191G>T (p.Glu1731Ter) c.4315G>T (p.Glu1439Ter) c.4084G>T (p.Glu1362Ter) | |
| 10 | g.94298409A= | CA1928998378 | PLCE1 | c.4274A= (p.Glu1425=) c.*1741A= (n.*1741A=) n.1933A= n.617A= c.*482A= (n.*482A=) c.4226A= (p.Glu1409=) n.9406A= n.2871A= c.5066A= (p.Glu1689=) c.5150A= (p.Glu1717=) c.5198A= (p.Glu1733=) c.4172A= (p.Glu1391=) c.3753A= c.3314A= (p.Glu1105=) c.*1131A= (n.*1131A=) c.4467A= c.4043A= (p.Glu1348=) c.5240A= (p.Glu1747=) c.5237A= (p.Glu1746=) c.5192A= (p.Glu1731=) c.4316A= (p.Glu1439=) c.4085A= (p.Glu1362=) | |
| 10 | g.94298409A>C | CA377641715 | PLCE1 | c.4274A>C (p.Glu1425Ala) c.*1741A>C (n.*1741A>C) n.1933A>C n.617A>C c.*482A>C (n.*482A>C) c.4226A>C (p.Glu1409Ala) n.9406A>C n.2871A>C c.5066A>C (p.Glu1689Ala) c.5150A>C (p.Glu1717Ala) c.5198A>C (p.Glu1733Ala) c.4172A>C (p.Glu1391Ala) c.3753A>C c.3314A>C (p.Glu1105Ala) c.*1131A>C (n.*1131A>C) c.4467A>C c.4043A>C (p.Glu1348Ala) c.5240A>C (p.Glu1747Ala) c.5237A>C (p.Glu1746Ala) c.5192A>C (p.Glu1731Ala) c.4316A>C (p.Glu1439Ala) c.4085A>C (p.Glu1362Ala) | |
| 10 | g.94298409A>G | CA377641716 | PLCE1 | c.4274A>G (p.Glu1425Gly) c.*1741A>G (n.*1741A>G) n.1933A>G n.617A>G c.*482A>G (n.*482A>G) c.4226A>G (p.Glu1409Gly) n.9406A>G n.2871A>G c.5066A>G (p.Glu1689Gly) c.5150A>G (p.Glu1717Gly) c.5198A>G (p.Glu1733Gly) c.4172A>G (p.Glu1391Gly) c.3753A>G c.3314A>G (p.Glu1105Gly) c.*1131A>G (n.*1131A>G) c.4467A>G c.4043A>G (p.Glu1348Gly) c.5240A>G (p.Glu1747Gly) c.5237A>G (p.Glu1746Gly) c.5192A>G (p.Glu1731Gly) c.4316A>G (p.Glu1439Gly) c.4085A>G (p.Glu1362Gly) | dbSNP |
| 10 | g.94298409A>T | CA377641717 | PLCE1 | c.4274A>T (p.Glu1425Val) c.*1741A>T (n.*1741A>T) n.1933A>T n.617A>T c.*482A>T (n.*482A>T) c.4226A>T (p.Glu1409Val) n.9406A>T n.2871A>T c.5066A>T (p.Glu1689Val) c.5150A>T (p.Glu1717Val) c.5198A>T (p.Glu1733Val) c.4172A>T (p.Glu1391Val) c.3753A>T c.3314A>T (p.Glu1105Val) c.*1131A>T (n.*1131A>T) c.4467A>T c.4043A>T (p.Glu1348Val) c.5240A>T (p.Glu1747Val) c.5237A>T (p.Glu1746Val) c.5192A>T (p.Glu1731Val) c.4316A>T (p.Glu1439Val) c.4085A>T (p.Glu1362Val) | |
| 10 | g.94298410G>A | CA470986414 | PLCE1 | c.4275G>A (p.Glu1425=) c.*1742G>A (n.*1742G>A) n.1934G>A n.618G>A c.*483G>A (n.*483G>A) c.4227G>A (p.Glu1409=) n.9407G>A n.2872G>A c.5067G>A (p.Glu1689=) c.5151G>A (p.Glu1717=) c.5199G>A (p.Glu1733=) c.4173G>A (p.Glu1391=) c.3754G>A c.3315G>A (p.Glu1105=) c.*1132G>A (n.*1132G>A) c.4468G>A c.4044G>A (p.Glu1348=) c.5241G>A (p.Glu1747=) c.5238G>A (p.Glu1746=) c.5193G>A (p.Glu1731=) c.4317G>A (p.Glu1439=) c.4086G>A (p.Glu1362=) | |
| 10 | g.94298410G>C | CA377641718 | PLCE1 | c.4275G>C (p.Glu1425Asp) c.*1742G>C (n.*1742G>C) n.1934G>C n.618G>C c.*483G>C (n.*483G>C) c.4227G>C (p.Glu1409Asp) n.9407G>C n.2872G>C c.5067G>C (p.Glu1689Asp) c.5151G>C (p.Glu1717Asp) c.5199G>C (p.Glu1733Asp) c.4173G>C (p.Glu1391Asp) c.3754G>C c.3315G>C (p.Glu1105Asp) c.*1132G>C (n.*1132G>C) c.4468G>C c.4044G>C (p.Glu1348Asp) c.5241G>C (p.Glu1747Asp) c.5238G>C (p.Glu1746Asp) c.5193G>C (p.Glu1731Asp) c.4317G>C (p.Glu1439Asp) c.4086G>C (p.Glu1362Asp) | |
| 10 | g.94298410G>T | CA377641719 | PLCE1 | c.4275G>T (p.Glu1425Asp) c.*1742G>T (n.*1742G>T) n.1934G>T n.618G>T c.*483G>T (n.*483G>T) c.4227G>T (p.Glu1409Asp) n.9407G>T n.2872G>T c.5067G>T (p.Glu1689Asp) c.5151G>T (p.Glu1717Asp) c.5199G>T (p.Glu1733Asp) c.4173G>T (p.Glu1391Asp) c.3754G>T c.3315G>T (p.Glu1105Asp) c.*1132G>T (n.*1132G>T) c.4468G>T c.4044G>T (p.Glu1348Asp) c.5241G>T (p.Glu1747Asp) c.5238G>T (p.Glu1746Asp) c.5193G>T (p.Glu1731Asp) c.4317G>T (p.Glu1439Asp) c.4086G>T (p.Glu1362Asp) | |
| 10 | g.94298411G>A | CA211599559 | PLCE1 | c.4276G>A (p.Glu1426Lys) c.*1743G>A (n.*1743G>A) n.1935G>A n.619G>A c.*484G>A (n.*484G>A) c.4228G>A (p.Glu1410Lys) n.9408G>A n.2873G>A c.5068G>A (p.Glu1690Lys) c.5152G>A (p.Glu1718Lys) c.5200G>A (p.Glu1734Lys) c.4174G>A (p.Glu1392Lys) c.3755G>A c.3316G>A (p.Glu1106Lys) c.*1133G>A (n.*1133G>A) c.4469G>A c.4045G>A (p.Glu1349Lys) c.5242G>A (p.Glu1748Lys) c.5239G>A (p.Glu1747Lys) c.5194G>A (p.Glu1732Lys) c.4318G>A (p.Glu1440Lys) c.4087G>A (p.Glu1363Lys) | dbSNP |
| 10 | g.94298411G>C | CA377641720 | PLCE1 | c.4276G>C (p.Glu1426Gln) c.*1743G>C (n.*1743G>C) n.1935G>C n.619G>C c.*484G>C (n.*484G>C) c.4228G>C (p.Glu1410Gln) n.9408G>C n.2873G>C c.5068G>C (p.Glu1690Gln) c.5152G>C (p.Glu1718Gln) c.5200G>C (p.Glu1734Gln) c.4174G>C (p.Glu1392Gln) c.3755G>C c.3316G>C (p.Glu1106Gln) c.*1133G>C (n.*1133G>C) c.4469G>C c.4045G>C (p.Glu1349Gln) c.5242G>C (p.Glu1748Gln) c.5239G>C (p.Glu1747Gln) c.5194G>C (p.Glu1732Gln) c.4318G>C (p.Glu1440Gln) c.4087G>C (p.Glu1363Gln) | |
| 10 | g.94298411G= | CA1928998379 | PLCE1 | c.4276G= (p.Glu1426=) c.*1743G= (n.*1743G=) n.1935G= n.619G= c.*484G= (n.*484G=) c.4228G= (p.Glu1410=) n.9408G= n.2873G= c.5068G= (p.Glu1690=) c.5152G= (p.Glu1718=) c.5200G= (p.Glu1734=) c.4174G= (p.Glu1392=) c.3755G= c.3316G= (p.Glu1106=) c.*1133G= (n.*1133G=) c.4469G= c.4045G= (p.Glu1349=) c.5242G= (p.Glu1748=) c.5239G= (p.Glu1747=) c.5194G= (p.Glu1732=) c.4318G= (p.Glu1440=) c.4087G= (p.Glu1363=) | |
| 10 | g.94298411G>T | CA377641721 | PLCE1 | c.4276G>T (p.Glu1426Ter) c.*1743G>T (n.*1743G>T) n.1935G>T n.619G>T c.*484G>T (n.*484G>T) c.4228G>T (p.Glu1410Ter) n.9408G>T n.2873G>T c.5068G>T (p.Glu1690Ter) c.5152G>T (p.Glu1718Ter) c.5200G>T (p.Glu1734Ter) c.4174G>T (p.Glu1392Ter) c.3755G>T c.3316G>T (p.Glu1106Ter) c.*1133G>T (n.*1133G>T) c.4469G>T c.4045G>T (p.Glu1349Ter) c.5242G>T (p.Glu1748Ter) c.5239G>T (p.Glu1747Ter) c.5194G>T (p.Glu1732Ter) c.4318G>T (p.Glu1440Ter) c.4087G>T (p.Glu1363Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94298412A= | CA1928998380 | PLCE1 | c.4277A= (p.Glu1426=) c.*1744A= (n.*1744A=) n.1936A= n.620A= c.*485A= (n.*485A=) c.4229A= (p.Glu1410=) n.9409A= n.2874A= c.5069A= (p.Glu1690=) c.5153A= (p.Glu1718=) c.5201A= (p.Glu1734=) c.4175A= (p.Glu1392=) c.3756A= c.3317A= (p.Glu1106=) c.*1134A= (n.*1134A=) c.4470A= c.4046A= (p.Glu1349=) c.5243A= (p.Glu1748=) c.5240A= (p.Glu1747=) c.5195A= (p.Glu1732=) c.4319A= (p.Glu1440=) c.4088A= (p.Glu1363=) |