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