| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94298487C>A | CA377641883 | PLCE1 | c.4352C>A (p.Ser1451Ter) c.*1819C>A (n.*1819C>A) n.2011C>A n.695C>A c.*560C>A (n.*560C>A) c.4304C>A (p.Ser1435Ter) n.9484C>A n.2949C>A c.5144C>A (p.Ser1715Ter) c.5228C>A (p.Ser1743Ter) c.5276C>A (p.Ser1759Ter) c.4250C>A (p.Ser1417Ter) c.3831C>A c.3392C>A (p.Ser1131Ter) c.*1209C>A (n.*1209C>A) c.4545C>A c.5318C>A (p.Ser1773Ter) c.5315C>A (p.Ser1772Ter) c.5270C>A (p.Ser1757Ter) c.4394C>A (p.Ser1465Ter) c.4163C>A (p.Ser1388Ter) | |
| 10 | g.94298487C= | CA1928998412 | PLCE1 | c.4352C= (p.Ser1451=) c.*1819C= (n.*1819C=) n.2011C= n.695C= c.*560C= (n.*560C=) c.4304C= (p.Ser1435=) n.9484C= n.2949C= c.5144C= (p.Ser1715=) c.5228C= (p.Ser1743=) c.5276C= (p.Ser1759=) c.4250C= (p.Ser1417=) c.3831C= c.3392C= (p.Ser1131=) c.*1209C= (n.*1209C=) c.4545C= c.5318C= (p.Ser1773=) c.5315C= (p.Ser1772=) c.5270C= (p.Ser1757=) c.4394C= (p.Ser1465=) c.4163C= (p.Ser1388=) | |
| 10 | g.94298487C>G | CA377641884 | PLCE1 | c.4352C>G (p.Ser1451Trp) c.*1819C>G (n.*1819C>G) n.2011C>G n.695C>G c.*560C>G (n.*560C>G) c.4304C>G (p.Ser1435Trp) n.9484C>G n.2949C>G c.5144C>G (p.Ser1715Trp) c.5228C>G (p.Ser1743Trp) c.5276C>G (p.Ser1759Trp) c.4250C>G (p.Ser1417Trp) c.3831C>G c.3392C>G (p.Ser1131Trp) c.*1209C>G (n.*1209C>G) c.4545C>G c.5318C>G (p.Ser1773Trp) c.5315C>G (p.Ser1772Trp) c.5270C>G (p.Ser1757Trp) c.4394C>G (p.Ser1465Trp) c.4163C>G (p.Ser1388Trp) | |
| 10 | g.94298487C>T | CA5613326 | PLCE1 | c.4352C>T (p.Ser1451Leu) c.*1819C>T (n.*1819C>T) n.2011C>T n.695C>T c.*560C>T (n.*560C>T) c.4304C>T (p.Ser1435Leu) n.9484C>T n.2949C>T c.5144C>T (p.Ser1715Leu) c.5228C>T (p.Ser1743Leu) c.5276C>T (p.Ser1759Leu) c.4250C>T (p.Ser1417Leu) c.3831C>T c.3392C>T (p.Ser1131Leu) c.*1209C>T (n.*1209C>T) c.4545C>T c.5318C>T (p.Ser1773Leu) c.5315C>T (p.Ser1772Leu) c.5270C>T (p.Ser1757Leu) c.4394C>T (p.Ser1465Leu) c.4163C>T (p.Ser1388Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.94298488G>A | CA211599657 | PLCE1 | c.4353G>A (p.Ser1451=) c.*1820G>A (n.*1820G>A) n.2012G>A n.696G>A c.*561G>A (n.*561G>A) c.4305G>A (p.Ser1435=) n.9485G>A n.2950G>A c.5145G>A (p.Ser1715=) c.5229G>A (p.Ser1743=) c.5277G>A (p.Ser1759=) c.4251G>A (p.Ser1417=) c.3832G>A c.3393G>A (p.Ser1131=) c.*1210G>A (n.*1210G>A) c.4546G>A c.5319G>A (p.Ser1773=) c.5316G>A (p.Ser1772=) c.5271G>A (p.Ser1757=) c.4395G>A (p.Ser1465=) c.4164G>A (p.Ser1388=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 10 | g.94298488G>C | CA470986494 | PLCE1 | c.4353G>C (p.Ser1451=) c.*1820G>C (n.*1820G>C) n.2012G>C n.696G>C c.*561G>C (n.*561G>C) c.4305G>C (p.Ser1435=) n.9485G>C n.2950G>C c.5145G>C (p.Ser1715=) c.5229G>C (p.Ser1743=) c.5277G>C (p.Ser1759=) c.4251G>C (p.Ser1417=) c.3832G>C c.3393G>C (p.Ser1131=) c.*1210G>C (n.*1210G>C) c.4546G>C c.5319G>C (p.Ser1773=) c.5316G>C (p.Ser1772=) c.5271G>C (p.Ser1757=) c.4395G>C (p.Ser1465=) c.4164G>C (p.Ser1388=) | |
| 10 | g.94298488G= | CA1928998413 | PLCE1 | c.4353G= (p.Ser1451=) c.*1820G= (n.*1820G=) n.2012G= n.696G= c.*561G= (n.*561G=) c.4305G= (p.Ser1435=) n.9485G= n.2950G= c.5145G= (p.Ser1715=) c.5229G= (p.Ser1743=) c.5277G= (p.Ser1759=) c.4251G= (p.Ser1417=) c.3832G= c.3393G= (p.Ser1131=) c.*1210G= (n.*1210G=) c.4546G= c.5319G= (p.Ser1773=) c.5316G= (p.Ser1772=) c.5271G= (p.Ser1757=) c.4395G= (p.Ser1465=) c.4164G= (p.Ser1388=) | |
| 10 | g.94298488G>T | CA470986493 | PLCE1 | c.4353G>T (p.Ser1451=) c.*1820G>T (n.*1820G>T) n.2012G>T n.696G>T c.*561G>T (n.*561G>T) c.4305G>T (p.Ser1435=) n.9485G>T n.2950G>T c.5145G>T (p.Ser1715=) c.5229G>T (p.Ser1743=) c.5277G>T (p.Ser1759=) c.4251G>T (p.Ser1417=) c.3832G>T c.3393G>T (p.Ser1131=) c.*1210G>T (n.*1210G>T) c.4546G>T c.5319G>T (p.Ser1773=) c.5316G>T (p.Ser1772=) c.5271G>T (p.Ser1757=) c.4395G>T (p.Ser1465=) c.4164G>T (p.Ser1388=) | |
| 10 | g.94298489C>A | CA377641885 | PLCE1 | c.4354C>A (p.Leu1452Met) c.*1821C>A (n.*1821C>A) n.2013C>A n.697C>A c.*562C>A (n.*562C>A) c.4306C>A (p.Leu1436Met) n.9486C>A n.2951C>A c.5146C>A (p.Leu1716Met) c.5230C>A (p.Leu1744Met) c.5278C>A (p.Leu1760Met) c.4252C>A (p.Leu1418Met) c.3833C>A c.3394C>A (p.Leu1132Met) c.*1211C>A (n.*1211C>A) c.4547C>A c.5320C>A (p.Leu1774Met) c.5317C>A (p.Leu1773Met) c.5272C>A (p.Leu1758Met) c.4396C>A (p.Leu1466Met) c.4165C>A (p.Leu1389Met) | |
| 10 | g.94298489C= | CA1928998414 | PLCE1 | c.4354C= (p.Leu1452=) c.*1821C= (n.*1821C=) n.2013C= n.697C= c.*562C= (n.*562C=) c.4306C= (p.Leu1436=) n.9486C= n.2951C= c.5146C= (p.Leu1716=) c.5230C= (p.Leu1744=) c.5278C= (p.Leu1760=) c.4252C= (p.Leu1418=) c.3833C= c.3394C= (p.Leu1132=) c.*1211C= (n.*1211C=) c.4547C= c.5320C= (p.Leu1774=) c.5317C= (p.Leu1773=) c.5272C= (p.Leu1758=) c.4396C= (p.Leu1466=) c.4165C= (p.Leu1389=) | |
| 10 | g.94298489C>G | CA377641886 | PLCE1 | c.4354C>G (p.Leu1452Val) c.*1821C>G (n.*1821C>G) n.2013C>G n.697C>G c.*562C>G (n.*562C>G) c.4306C>G (p.Leu1436Val) n.9486C>G n.2951C>G c.5146C>G (p.Leu1716Val) c.5230C>G (p.Leu1744Val) c.5278C>G (p.Leu1760Val) c.4252C>G (p.Leu1418Val) c.3833C>G c.3394C>G (p.Leu1132Val) c.*1211C>G (n.*1211C>G) c.4547C>G c.5320C>G (p.Leu1774Val) c.5317C>G (p.Leu1773Val) c.5272C>G (p.Leu1758Val) c.4396C>G (p.Leu1466Val) c.4165C>G (p.Leu1389Val) | |
| 10 | g.94298489C>T | CA5613327 | PLCE1 | c.4354C>T (p.Leu1452=) c.*1821C>T (n.*1821C>T) n.2013C>T n.697C>T c.*562C>T (n.*562C>T) c.4306C>T (p.Leu1436=) n.9486C>T n.2951C>T c.5146C>T (p.Leu1716=) c.5230C>T (p.Leu1744=) c.5278C>T (p.Leu1760=) c.4252C>T (p.Leu1418=) c.3833C>T c.3394C>T (p.Leu1132=) c.*1211C>T (n.*1211C>T) c.4547C>T c.5320C>T (p.Leu1774=) c.5317C>T (p.Leu1773=) c.5272C>T (p.Leu1758=) c.4396C>T (p.Leu1466=) c.4165C>T (p.Leu1389=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94298490T>A | CA377641887 | PLCE1 | c.4355T>A (p.Leu1452Gln) c.*1822T>A (n.*1822T>A) n.2014T>A n.698T>A c.*563T>A (n.*563T>A) c.4307T>A (p.Leu1436Gln) n.9487T>A n.2952T>A c.5147T>A (p.Leu1716Gln) c.5231T>A (p.Leu1744Gln) c.5279T>A (p.Leu1760Gln) c.4253T>A (p.Leu1418Gln) c.3834T>A c.3395T>A (p.Leu1132Gln) c.*1212T>A (n.*1212T>A) c.4548T>A c.5321T>A (p.Leu1774Gln) c.5318T>A (p.Leu1773Gln) c.5273T>A (p.Leu1758Gln) c.4397T>A (p.Leu1466Gln) c.4166T>A (p.Leu1389Gln) | |
| 10 | g.94298490T>C | CA377641889 | PLCE1 | c.4355T>C (p.Leu1452Pro) c.*1822T>C (n.*1822T>C) n.2014T>C n.698T>C c.*563T>C (n.*563T>C) c.4307T>C (p.Leu1436Pro) n.9487T>C n.2952T>C c.5147T>C (p.Leu1716Pro) c.5231T>C (p.Leu1744Pro) c.5279T>C (p.Leu1760Pro) c.4253T>C (p.Leu1418Pro) c.3834T>C c.3395T>C (p.Leu1132Pro) c.*1212T>C (n.*1212T>C) c.4548T>C c.5321T>C (p.Leu1774Pro) c.5318T>C (p.Leu1773Pro) c.5273T>C (p.Leu1758Pro) c.4397T>C (p.Leu1466Pro) c.4166T>C (p.Leu1389Pro) | |
| 10 | g.94298490T>G | CA377641888 | PLCE1 | c.4355T>G (p.Leu1452Arg) c.*1822T>G (n.*1822T>G) n.2014T>G n.698T>G c.*563T>G (n.*563T>G) c.4307T>G (p.Leu1436Arg) n.9487T>G n.2952T>G c.5147T>G (p.Leu1716Arg) c.5231T>G (p.Leu1744Arg) c.5279T>G (p.Leu1760Arg) c.4253T>G (p.Leu1418Arg) c.3834T>G c.3395T>G (p.Leu1132Arg) c.*1212T>G (n.*1212T>G) c.4548T>G c.5321T>G (p.Leu1774Arg) c.5318T>G (p.Leu1773Arg) c.5273T>G (p.Leu1758Arg) c.4397T>G (p.Leu1466Arg) c.4166T>G (p.Leu1389Arg) | |
| 10 | g.94298491G>A | CA470986495 | PLCE1 | c.4356G>A (p.Leu1452=) c.*1823G>A (n.*1823G>A) n.2015G>A n.699G>A c.*564G>A (n.*564G>A) c.4308G>A (p.Leu1436=) n.9488G>A n.2953G>A c.5148G>A (p.Leu1716=) c.5232G>A (p.Leu1744=) c.5280G>A (p.Leu1760=) c.4254G>A (p.Leu1418=) c.3835G>A c.3396G>A (p.Leu1132=) c.*1213G>A (n.*1213G>A) c.4549G>A c.5322G>A (p.Leu1774=) c.5319G>A (p.Leu1773=) c.5274G>A (p.Leu1758=) c.4398G>A (p.Leu1466=) c.4167G>A (p.Leu1389=) | |
| 10 | g.94298491G>C | CA470986496 | PLCE1 | c.4356G>C (p.Leu1452=) c.*1823G>C (n.*1823G>C) n.2015G>C n.699G>C c.*564G>C (n.*564G>C) c.4308G>C (p.Leu1436=) n.9488G>C n.2953G>C c.5148G>C (p.Leu1716=) c.5232G>C (p.Leu1744=) c.5280G>C (p.Leu1760=) c.4254G>C (p.Leu1418=) c.3835G>C c.3396G>C (p.Leu1132=) c.*1213G>C (n.*1213G>C) c.4549G>C c.5322G>C (p.Leu1774=) c.5319G>C (p.Leu1773=) c.5274G>C (p.Leu1758=) c.4398G>C (p.Leu1466=) c.4167G>C (p.Leu1389=) | |
| 10 | g.94298491G>T | CA470986497 | PLCE1 | c.4356G>T (p.Leu1452=) c.*1823G>T (n.*1823G>T) n.2015G>T n.699G>T c.*564G>T (n.*564G>T) c.4308G>T (p.Leu1436=) n.9488G>T n.2953G>T c.5148G>T (p.Leu1716=) c.5232G>T (p.Leu1744=) c.5280G>T (p.Leu1760=) c.4254G>T (p.Leu1418=) c.3835G>T c.3396G>T (p.Leu1132=) c.*1213G>T (n.*1213G>T) c.4549G>T c.5322G>T (p.Leu1774=) c.5319G>T (p.Leu1773=) c.5274G>T (p.Leu1758=) c.4398G>T (p.Leu1466=) c.4167G>T (p.Leu1389=) | |
| 10 | g.94298492A>C | CA377641890 | PLCE1 | c.4357A>C (p.Asn1453His) c.*1824A>C (n.*1824A>C) n.2016A>C n.700A>C c.*565A>C (n.*565A>C) c.4309A>C (p.Asn1437His) n.9489A>C n.2954A>C c.5149A>C (p.Asn1717His) c.5233A>C (p.Asn1745His) c.5281A>C (p.Asn1761His) c.4255A>C (p.Asn1419His) c.3836A>C c.3397A>C (p.Asn1133His) c.*1214A>C (n.*1214A>C) c.4550A>C c.5323A>C (p.Asn1775His) c.5320A>C (p.Asn1774His) c.5275A>C (p.Asn1759His) c.4399A>C (p.Asn1467His) c.4168A>C (p.Asn1390His) | gnomAD v4 |
| 10 | g.94298492A>G | CA377641891 | PLCE1 | c.4357A>G (p.Asn1453Asp) c.*1824A>G (n.*1824A>G) n.2016A>G n.700A>G c.*565A>G (n.*565A>G) c.4309A>G (p.Asn1437Asp) n.9489A>G n.2954A>G c.5149A>G (p.Asn1717Asp) c.5233A>G (p.Asn1745Asp) c.5281A>G (p.Asn1761Asp) c.4255A>G (p.Asn1419Asp) c.3836A>G c.3397A>G (p.Asn1133Asp) c.*1214A>G (n.*1214A>G) c.4550A>G c.5323A>G (p.Asn1775Asp) c.5320A>G (p.Asn1774Asp) c.5275A>G (p.Asn1759Asp) c.4399A>G (p.Asn1467Asp) c.4168A>G (p.Asn1390Asp) | |
| 10 | g.94298492A>T | CA377641892 | PLCE1 | c.4357A>T (p.Asn1453Tyr) c.*1824A>T (n.*1824A>T) n.2016A>T n.700A>T c.*565A>T (n.*565A>T) c.4309A>T (p.Asn1437Tyr) n.9489A>T n.2954A>T c.5149A>T (p.Asn1717Tyr) c.5233A>T (p.Asn1745Tyr) c.5281A>T (p.Asn1761Tyr) c.4255A>T (p.Asn1419Tyr) c.3836A>T c.3397A>T (p.Asn1133Tyr) c.*1214A>T (n.*1214A>T) c.4550A>T c.5323A>T (p.Asn1775Tyr) c.5320A>T (p.Asn1774Tyr) c.5275A>T (p.Asn1759Tyr) c.4399A>T (p.Asn1467Tyr) c.4168A>T (p.Asn1390Tyr) | |
| 10 | g.94298493A>C | CA377641893 | PLCE1 | c.4358A>C (p.Asn1453Thr) c.*1825A>C (n.*1825A>C) n.2017A>C n.701A>C c.*566A>C (n.*566A>C) c.4310A>C (p.Asn1437Thr) n.9490A>C n.2955A>C c.5150A>C (p.Asn1717Thr) c.5234A>C (p.Asn1745Thr) c.5282A>C (p.Asn1761Thr) c.4256A>C (p.Asn1419Thr) c.3837A>C c.3398A>C (p.Asn1133Thr) c.*1215A>C (n.*1215A>C) c.4551A>C c.5324A>C (p.Asn1775Thr) c.5321A>C (p.Asn1774Thr) c.5276A>C (p.Asn1759Thr) c.4400A>C (p.Asn1467Thr) c.4169A>C (p.Asn1390Thr) | |
| 10 | g.94298493A>G | CA377641894 | PLCE1 | c.4358A>G (p.Asn1453Ser) c.*1825A>G (n.*1825A>G) n.2017A>G n.701A>G c.*566A>G (n.*566A>G) c.4310A>G (p.Asn1437Ser) n.9490A>G n.2955A>G c.5150A>G (p.Asn1717Ser) c.5234A>G (p.Asn1745Ser) c.5282A>G (p.Asn1761Ser) c.4256A>G (p.Asn1419Ser) c.3837A>G c.3398A>G (p.Asn1133Ser) c.*1215A>G (n.*1215A>G) c.4551A>G c.5324A>G (p.Asn1775Ser) c.5321A>G (p.Asn1774Ser) c.5276A>G (p.Asn1759Ser) c.4400A>G (p.Asn1467Ser) c.4169A>G (p.Asn1390Ser) | |
| 10 | g.94298493A>T | CA377641895 | PLCE1 | c.4358A>T (p.Asn1453Ile) c.*1825A>T (n.*1825A>T) n.2017A>T n.701A>T c.*566A>T (n.*566A>T) c.4310A>T (p.Asn1437Ile) n.9490A>T n.2955A>T c.5150A>T (p.Asn1717Ile) c.5234A>T (p.Asn1745Ile) c.5282A>T (p.Asn1761Ile) c.4256A>T (p.Asn1419Ile) c.3837A>T c.3398A>T (p.Asn1133Ile) c.*1215A>T (n.*1215A>T) c.4551A>T c.5324A>T (p.Asn1775Ile) c.5321A>T (p.Asn1774Ile) c.5276A>T (p.Asn1759Ile) c.4400A>T (p.Asn1467Ile) c.4169A>T (p.Asn1390Ile) | |
| 10 | g.94298494T>A | CA377641896 | PLCE1 | c.4359T>A (p.Asn1453Lys) c.*1826T>A (n.*1826T>A) n.2018T>A n.702T>A c.*567T>A (n.*567T>A) c.4311T>A (p.Asn1437Lys) n.9491T>A n.2956T>A c.5151T>A (p.Asn1717Lys) c.5235T>A (p.Asn1745Lys) c.5283T>A (p.Asn1761Lys) c.4257T>A (p.Asn1419Lys) c.3838T>A c.3399T>A (p.Asn1133Lys) c.*1216T>A (n.*1216T>A) c.4552T>A c.5325T>A (p.Asn1775Lys) c.5322T>A (p.Asn1774Lys) c.5277T>A (p.Asn1759Lys) c.4401T>A (p.Asn1467Lys) c.4170T>A (p.Asn1390Lys) | |
| 10 | g.94298494T>C | CA211599662 | PLCE1 | c.4359T>C (p.Asn1453=) c.*1826T>C (n.*1826T>C) n.2018T>C n.702T>C c.*567T>C (n.*567T>C) c.4311T>C (p.Asn1437=) n.9491T>C n.2956T>C c.5151T>C (p.Asn1717=) c.5235T>C (p.Asn1745=) c.5283T>C (p.Asn1761=) c.4257T>C (p.Asn1419=) c.3838T>C c.3399T>C (p.Asn1133=) c.*1216T>C (n.*1216T>C) c.4552T>C c.5325T>C (p.Asn1775=) c.5322T>C (p.Asn1774=) c.5277T>C (p.Asn1759=) c.4401T>C (p.Asn1467=) c.4170T>C (p.Asn1390=) | dbSNP |
| 10 | g.94298494T>G | CA377641897 | PLCE1 | c.4359T>G (p.Asn1453Lys) c.*1826T>G (n.*1826T>G) n.2018T>G n.702T>G c.*567T>G (n.*567T>G) c.4311T>G (p.Asn1437Lys) n.9491T>G n.2956T>G c.5151T>G (p.Asn1717Lys) c.5235T>G (p.Asn1745Lys) c.5283T>G (p.Asn1761Lys) c.4257T>G (p.Asn1419Lys) c.3838T>G c.3399T>G (p.Asn1133Lys) c.*1216T>G (n.*1216T>G) c.4552T>G c.5325T>G (p.Asn1775Lys) c.5322T>G (p.Asn1774Lys) c.5277T>G (p.Asn1759Lys) c.4401T>G (p.Asn1467Lys) c.4170T>G (p.Asn1390Lys) | |
| 10 | g.94298494T= | CA1928998415 | PLCE1 | c.4359T= (p.Asn1453=) c.*1826T= (n.*1826T=) n.2018T= n.702T= c.*567T= (n.*567T=) c.4311T= (p.Asn1437=) n.9491T= n.2956T= c.5151T= (p.Asn1717=) c.5235T= (p.Asn1745=) c.5283T= (p.Asn1761=) c.4257T= (p.Asn1419=) c.3838T= c.3399T= (p.Asn1133=) c.*1216T= (n.*1216T=) c.4552T= c.5325T= (p.Asn1775=) c.5322T= (p.Asn1774=) c.5277T= (p.Asn1759=) c.4401T= (p.Asn1467=) c.4170T= (p.Asn1390=) | |
| 10 | g.94298495G>A | CA377641898 | PLCE1 | c.4360G>A (p.Glu1454Lys) c.*1827G>A (n.*1827G>A) n.2019G>A n.703G>A c.*568G>A (n.*568G>A) c.4312G>A (p.Glu1438Lys) n.9492G>A n.2957G>A c.5152G>A (p.Glu1718Lys) c.5236G>A (p.Glu1746Lys) c.5284G>A (p.Glu1762Lys) c.4258G>A (p.Glu1420Lys) c.3839G>A c.3400G>A (p.Glu1134Lys) c.*1217G>A (n.*1217G>A) c.4553G>A c.5326G>A (p.Glu1776Lys) c.5323G>A (p.Glu1775Lys) c.5278G>A (p.Glu1760Lys) c.4402G>A (p.Glu1468Lys) c.4171G>A (p.Glu1391Lys) | |
| 10 | g.94298495G>C | CA377641899 | PLCE1 | c.4360G>C (p.Glu1454Gln) c.*1827G>C (n.*1827G>C) n.2019G>C n.703G>C c.*568G>C (n.*568G>C) c.4312G>C (p.Glu1438Gln) n.9492G>C n.2957G>C c.5152G>C (p.Glu1718Gln) c.5236G>C (p.Glu1746Gln) c.5284G>C (p.Glu1762Gln) c.4258G>C (p.Glu1420Gln) c.3839G>C c.3400G>C (p.Glu1134Gln) c.*1217G>C (n.*1217G>C) c.4553G>C c.5326G>C (p.Glu1776Gln) c.5323G>C (p.Glu1775Gln) c.5278G>C (p.Glu1760Gln) c.4402G>C (p.Glu1468Gln) c.4171G>C (p.Glu1391Gln) | |
| 10 | g.94298495G>T | CA377641900 | PLCE1 | c.4360G>T (p.Glu1454Ter) c.*1827G>T (n.*1827G>T) n.2019G>T n.703G>T c.*568G>T (n.*568G>T) c.4312G>T (p.Glu1438Ter) n.9492G>T n.2957G>T c.5152G>T (p.Glu1718Ter) c.5236G>T (p.Glu1746Ter) c.5284G>T (p.Glu1762Ter) c.4258G>T (p.Glu1420Ter) c.3839G>T c.3400G>T (p.Glu1134Ter) c.*1217G>T (n.*1217G>T) c.4553G>T c.5326G>T (p.Glu1776Ter) c.5323G>T (p.Glu1775Ter) c.5278G>T (p.Glu1760Ter) c.4402G>T (p.Glu1468Ter) c.4171G>T (p.Glu1391Ter) | |
| 10 | g.94298496A>C | CA377641903 | PLCE1 | c.4361A>C (p.Glu1454Ala) c.*1828A>C (n.*1828A>C) n.2020A>C n.704A>C c.*569A>C (n.*569A>C) c.4313A>C (p.Glu1438Ala) n.9493A>C n.2958A>C c.5153A>C (p.Glu1718Ala) c.5237A>C (p.Glu1746Ala) c.5285A>C (p.Glu1762Ala) c.4259A>C (p.Glu1420Ala) c.3840A>C c.3401A>C (p.Glu1134Ala) c.*1218A>C (n.*1218A>C) c.4554A>C c.5327A>C (p.Glu1776Ala) c.5324A>C (p.Glu1775Ala) c.5279A>C (p.Glu1760Ala) c.4403A>C (p.Glu1468Ala) c.4172A>C (p.Glu1391Ala) | |
| 10 | g.94298496A>G | CA377641901 | PLCE1 | c.4361A>G (p.Glu1454Gly) c.*1828A>G (n.*1828A>G) n.2020A>G n.704A>G c.*569A>G (n.*569A>G) c.4313A>G (p.Glu1438Gly) n.9493A>G n.2958A>G c.5153A>G (p.Glu1718Gly) c.5237A>G (p.Glu1746Gly) c.5285A>G (p.Glu1762Gly) c.4259A>G (p.Glu1420Gly) c.3840A>G c.3401A>G (p.Glu1134Gly) c.*1218A>G (n.*1218A>G) c.4554A>G c.5327A>G (p.Glu1776Gly) c.5324A>G (p.Glu1775Gly) c.5279A>G (p.Glu1760Gly) c.4403A>G (p.Glu1468Gly) c.4172A>G (p.Glu1391Gly) | |
| 10 | g.94298496A>T | CA377641902 | PLCE1 | c.4361A>T (p.Glu1454Val) c.*1828A>T (n.*1828A>T) n.2020A>T n.704A>T c.*569A>T (n.*569A>T) c.4313A>T (p.Glu1438Val) n.9493A>T n.2958A>T c.5153A>T (p.Glu1718Val) c.5237A>T (p.Glu1746Val) c.5285A>T (p.Glu1762Val) c.4259A>T (p.Glu1420Val) c.3840A>T c.3401A>T (p.Glu1134Val) c.*1218A>T (n.*1218A>T) c.4554A>T c.5327A>T (p.Glu1776Val) c.5324A>T (p.Glu1775Val) c.5279A>T (p.Glu1760Val) c.4403A>T (p.Glu1468Val) c.4172A>T (p.Glu1391Val) | |
| 10 | g.94298497A>C | CA377641904 | PLCE1 | c.4362A>C (p.Glu1454Asp) c.*1829A>C (n.*1829A>C) n.2021A>C n.705A>C c.*570A>C (n.*570A>C) c.4314A>C (p.Glu1438Asp) n.9494A>C n.2959A>C c.5154A>C (p.Glu1718Asp) c.5238A>C (p.Glu1746Asp) c.5286A>C (p.Glu1762Asp) c.4260A>C (p.Glu1420Asp) c.3841A>C c.3402A>C (p.Glu1134Asp) c.*1219A>C (n.*1219A>C) c.4555A>C c.5328A>C (p.Glu1776Asp) c.5325A>C (p.Glu1775Asp) c.5280A>C (p.Glu1760Asp) c.4404A>C (p.Glu1468Asp) c.4173A>C (p.Glu1391Asp) | |
| 10 | g.94298497A>G | CA470986502 | PLCE1 | c.4362A>G (p.Glu1454=) c.*1829A>G (n.*1829A>G) n.2021A>G n.705A>G c.*570A>G (n.*570A>G) c.4314A>G (p.Glu1438=) n.9494A>G n.2959A>G c.5154A>G (p.Glu1718=) c.5238A>G (p.Glu1746=) c.5286A>G (p.Glu1762=) c.4260A>G (p.Glu1420=) c.3841A>G c.3402A>G (p.Glu1134=) c.*1219A>G (n.*1219A>G) c.4555A>G c.5328A>G (p.Glu1776=) c.5325A>G (p.Glu1775=) c.5280A>G (p.Glu1760=) c.4404A>G (p.Glu1468=) c.4173A>G (p.Glu1391=) | |
| 10 | g.94298497A>T | CA377641905 | PLCE1 | c.4362A>T (p.Glu1454Asp) c.*1829A>T (n.*1829A>T) n.2021A>T n.705A>T c.*570A>T (n.*570A>T) c.4314A>T (p.Glu1438Asp) n.9494A>T n.2959A>T c.5154A>T (p.Glu1718Asp) c.5238A>T (p.Glu1746Asp) c.5286A>T (p.Glu1762Asp) c.4260A>T (p.Glu1420Asp) c.3841A>T c.3402A>T (p.Glu1134Asp) c.*1219A>T (n.*1219A>T) c.4555A>T c.5328A>T (p.Glu1776Asp) c.5325A>T (p.Glu1775Asp) c.5280A>T (p.Glu1760Asp) c.4404A>T (p.Glu1468Asp) c.4173A>T (p.Glu1391Asp) | |
| 10 | g.94298498A>C | CA377641906 | PLCE1 | c.4363A>C (p.Asn1455His) c.*1830A>C (n.*1830A>C) n.2022A>C n.706A>C c.*571A>C (n.*571A>C) c.4315A>C (p.Asn1439His) n.9495A>C n.2960A>C c.5155A>C (p.Asn1719His) c.5239A>C (p.Asn1747His) c.5287A>C (p.Asn1763His) c.4261A>C (p.Asn1421His) c.3842A>C c.3403A>C (p.Asn1135His) c.*1220A>C (n.*1220A>C) c.4556A>C c.5329A>C (p.Asn1777His) c.5326A>C (p.Asn1776His) c.5281A>C (p.Asn1761His) c.4405A>C (p.Asn1469His) c.4174A>C (p.Asn1392His) | |
| 10 | g.94298498A>G | CA377641907 | PLCE1 | c.4363A>G (p.Asn1455Asp) c.*1830A>G (n.*1830A>G) n.2022A>G n.706A>G c.*571A>G (n.*571A>G) c.4315A>G (p.Asn1439Asp) n.9495A>G n.2960A>G c.5155A>G (p.Asn1719Asp) c.5239A>G (p.Asn1747Asp) c.5287A>G (p.Asn1763Asp) c.4261A>G (p.Asn1421Asp) c.3842A>G c.3403A>G (p.Asn1135Asp) c.*1220A>G (n.*1220A>G) c.4556A>G c.5329A>G (p.Asn1777Asp) c.5326A>G (p.Asn1776Asp) c.5281A>G (p.Asn1761Asp) c.4405A>G (p.Asn1469Asp) c.4174A>G (p.Asn1392Asp) | |
| 10 | g.94298498A>T | CA377641908 | PLCE1 | c.4363A>T (p.Asn1455Tyr) c.*1830A>T (n.*1830A>T) n.2022A>T n.706A>T c.*571A>T (n.*571A>T) c.4315A>T (p.Asn1439Tyr) n.9495A>T n.2960A>T c.5155A>T (p.Asn1719Tyr) c.5239A>T (p.Asn1747Tyr) c.5287A>T (p.Asn1763Tyr) c.4261A>T (p.Asn1421Tyr) c.3842A>T c.3403A>T (p.Asn1135Tyr) c.*1220A>T (n.*1220A>T) c.4556A>T c.5329A>T (p.Asn1777Tyr) c.5326A>T (p.Asn1776Tyr) c.5281A>T (p.Asn1761Tyr) c.4405A>T (p.Asn1469Tyr) c.4174A>T (p.Asn1392Tyr) | |
| 10 | g.94298499A= | CA1928998416 | PLCE1 | c.4364A= (p.Asn1455=) c.*1831A= (n.*1831A=) n.2023A= n.707A= c.*572A= (n.*572A=) c.4316A= (p.Asn1439=) n.9496A= n.2961A= c.5156A= (p.Asn1719=) c.5240A= (p.Asn1747=) c.5288A= (p.Asn1763=) c.4262A= (p.Asn1421=) c.3843A= c.3404A= (p.Asn1135=) c.*1221A= (n.*1221A=) c.4557A= c.5330A= (p.Asn1777=) c.5327A= (p.Asn1776=) c.5282A= (p.Asn1761=) c.4406A= (p.Asn1469=) c.4175A= (p.Asn1392=) | |
| 10 | g.94298499A>C | CA377641909 | PLCE1 | c.4364A>C (p.Asn1455Thr) c.*1831A>C (n.*1831A>C) n.2023A>C n.707A>C c.*572A>C (n.*572A>C) c.4316A>C (p.Asn1439Thr) n.9496A>C n.2961A>C c.5156A>C (p.Asn1719Thr) c.5240A>C (p.Asn1747Thr) c.5288A>C (p.Asn1763Thr) c.4262A>C (p.Asn1421Thr) c.3843A>C c.3404A>C (p.Asn1135Thr) c.*1221A>C (n.*1221A>C) c.4557A>C c.5330A>C (p.Asn1777Thr) c.5327A>C (p.Asn1776Thr) c.5282A>C (p.Asn1761Thr) c.4406A>C (p.Asn1469Thr) c.4175A>C (p.Asn1392Thr) | |
| 10 | g.94298499A>G | CA377641910 | PLCE1 | c.4364A>G (p.Asn1455Ser) c.*1831A>G (n.*1831A>G) n.2023A>G n.707A>G c.*572A>G (n.*572A>G) c.4316A>G (p.Asn1439Ser) n.9496A>G n.2961A>G c.5156A>G (p.Asn1719Ser) c.5240A>G (p.Asn1747Ser) c.5288A>G (p.Asn1763Ser) c.4262A>G (p.Asn1421Ser) c.3843A>G c.3404A>G (p.Asn1135Ser) c.*1221A>G (n.*1221A>G) c.4557A>G c.5330A>G (p.Asn1777Ser) c.5327A>G (p.Asn1776Ser) c.5282A>G (p.Asn1761Ser) c.4406A>G (p.Asn1469Ser) c.4175A>G (p.Asn1392Ser) | |
| 10 | g.94298499A>T | CA377641911 | PLCE1 | c.4364A>T (p.Asn1455Ile) c.*1831A>T (n.*1831A>T) n.2023A>T n.707A>T c.*572A>T (n.*572A>T) c.4316A>T (p.Asn1439Ile) n.9496A>T n.2961A>T c.5156A>T (p.Asn1719Ile) c.5240A>T (p.Asn1747Ile) c.5288A>T (p.Asn1763Ile) c.4262A>T (p.Asn1421Ile) c.3843A>T c.3404A>T (p.Asn1135Ile) c.*1221A>T (n.*1221A>T) c.4557A>T c.5330A>T (p.Asn1777Ile) c.5327A>T (p.Asn1776Ile) c.5282A>T (p.Asn1761Ile) c.4406A>T (p.Asn1469Ile) c.4175A>T (p.Asn1392Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.94298500T>A | CA377641912 | PLCE1 | c.4365T>A (p.Asn1455Lys) c.*1832T>A (n.*1832T>A) n.2024T>A n.708T>A c.*573T>A (n.*573T>A) c.4317T>A (p.Asn1439Lys) n.9497T>A n.2962T>A c.5157T>A (p.Asn1719Lys) c.5241T>A (p.Asn1747Lys) c.5289T>A (p.Asn1763Lys) c.4263T>A (p.Asn1421Lys) c.3844T>A c.3405T>A (p.Asn1135Lys) c.*1222T>A (n.*1222T>A) c.4558T>A c.5331T>A (p.Asn1777Lys) c.5328T>A (p.Asn1776Lys) c.5283T>A (p.Asn1761Lys) c.4407T>A (p.Asn1469Lys) c.4176T>A (p.Asn1392Lys) | |
| 10 | g.94298500T>C | CA470986507 | PLCE1 | c.4365T>C (p.Asn1455=) c.*1832T>C (n.*1832T>C) n.2024T>C n.708T>C c.*573T>C (n.*573T>C) c.4317T>C (p.Asn1439=) n.9497T>C n.2962T>C c.5157T>C (p.Asn1719=) c.5241T>C (p.Asn1747=) c.5289T>C (p.Asn1763=) c.4263T>C (p.Asn1421=) c.3844T>C c.3405T>C (p.Asn1135=) c.*1222T>C (n.*1222T>C) c.4558T>C c.5331T>C (p.Asn1777=) c.5328T>C (p.Asn1776=) c.5283T>C (p.Asn1761=) c.4407T>C (p.Asn1469=) c.4176T>C (p.Asn1392=) | |
| 10 | g.94298500T>G | CA377641913 | PLCE1 | c.4365T>G (p.Asn1455Lys) c.*1832T>G (n.*1832T>G) n.2024T>G n.708T>G c.*573T>G (n.*573T>G) c.4317T>G (p.Asn1439Lys) n.9497T>G n.2962T>G c.5157T>G (p.Asn1719Lys) c.5241T>G (p.Asn1747Lys) c.5289T>G (p.Asn1763Lys) c.4263T>G (p.Asn1421Lys) c.3844T>G c.3405T>G (p.Asn1135Lys) c.*1222T>G (n.*1222T>G) c.4558T>G c.5331T>G (p.Asn1777Lys) c.5328T>G (p.Asn1776Lys) c.5283T>G (p.Asn1761Lys) c.4407T>G (p.Asn1469Lys) c.4176T>G (p.Asn1392Lys) | |
| 10 | g.94298501G>A | CA377641915 | PLCE1 | c.4366G>A (p.Ala1456Thr) c.*1833G>A (n.*1833G>A) n.2025G>A n.709G>A c.*574G>A (n.*574G>A) c.4318G>A (p.Ala1440Thr) n.9498G>A n.2963G>A c.5158G>A (p.Ala1720Thr) c.5242G>A (p.Ala1748Thr) c.5290G>A (p.Ala1764Thr) c.4264G>A (p.Ala1422Thr) c.3845G>A c.3406G>A (p.Ala1136Thr) c.*1223G>A (n.*1223G>A) c.4559G>A c.5332G>A (p.Ala1778Thr) c.5329G>A (p.Ala1777Thr) c.5284G>A (p.Ala1762Thr) c.4408G>A (p.Ala1470Thr) c.4177G>A (p.Ala1393Thr) | |
| 10 | g.94298501G>C | CA377641914 | PLCE1 | c.4366G>C (p.Ala1456Pro) c.*1833G>C (n.*1833G>C) n.2025G>C n.709G>C c.*574G>C (n.*574G>C) c.4318G>C (p.Ala1440Pro) n.9498G>C n.2963G>C c.5158G>C (p.Ala1720Pro) c.5242G>C (p.Ala1748Pro) c.5290G>C (p.Ala1764Pro) c.4264G>C (p.Ala1422Pro) c.3845G>C c.3406G>C (p.Ala1136Pro) c.*1223G>C (n.*1223G>C) c.4559G>C c.5332G>C (p.Ala1778Pro) c.5329G>C (p.Ala1777Pro) c.5284G>C (p.Ala1762Pro) c.4408G>C (p.Ala1470Pro) c.4177G>C (p.Ala1393Pro) | |
| 10 | g.94298501G= | CA1928998417 | PLCE1 | c.4366G= (p.Ala1456=) c.*1833G= (n.*1833G=) n.2025G= n.709G= c.*574G= (n.*574G=) c.4318G= (p.Ala1440=) n.9498G= n.2963G= c.5158G= (p.Ala1720=) c.5242G= (p.Ala1748=) c.5290G= (p.Ala1764=) c.4264G= (p.Ala1422=) c.3845G= c.3406G= (p.Ala1136=) c.*1223G= (n.*1223G=) c.4559G= c.5332G= (p.Ala1778=) c.5329G= (p.Ala1777=) c.5284G= (p.Ala1762=) c.4408G= (p.Ala1470=) c.4177G= (p.Ala1393=) |