Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.94293568C>A | CA377640667 | PLCE1 | c.4172C>A (p.Ser1391Tyr) c.*1639C>A (n.*1639C>A) n.1831C>A n.515C>A c.*380C>A (n.*380C>A) c.4124C>A (p.Ser1375Tyr) n.9304C>A n.2769C>A c.5036-4811C>A (n.5036-4811C>A) c.5048C>A (p.Ser1683Tyr) c.5096C>A (p.Ser1699Tyr) c.4070C>A (p.Ser1357Tyr) c.3651C>A c.3212C>A (p.Ser1071Tyr) c.*1029C>A (n.*1029C>A) c.4365C>A c.3941C>A (p.Ser1314Tyr) c.5138C>A (p.Ser1713Tyr) c.5135C>A (p.Ser1712Tyr) c.5090C>A (p.Ser1697Tyr) c.4214C>A (p.Ser1405Tyr) c.3983C>A (p.Ser1328Tyr) | |
10 | g.94293568C>G | CA377640669 | PLCE1 | c.4172C>G (p.Ser1391Cys) c.*1639C>G (n.*1639C>G) n.1831C>G n.515C>G c.*380C>G (n.*380C>G) c.4124C>G (p.Ser1375Cys) n.9304C>G n.2769C>G c.5036-4811C>G (n.5036-4811C>G) c.5048C>G (p.Ser1683Cys) c.5096C>G (p.Ser1699Cys) c.4070C>G (p.Ser1357Cys) c.3651C>G c.3212C>G (p.Ser1071Cys) c.*1029C>G (n.*1029C>G) c.4365C>G c.3941C>G (p.Ser1314Cys) c.5138C>G (p.Ser1713Cys) c.5135C>G (p.Ser1712Cys) c.5090C>G (p.Ser1697Cys) c.4214C>G (p.Ser1405Cys) c.3983C>G (p.Ser1328Cys) | |
10 | g.94293568C>T | CA377640671 | PLCE1 | c.4172C>T (p.Ser1391Phe) c.*1639C>T (n.*1639C>T) n.1831C>T n.515C>T c.*380C>T (n.*380C>T) c.4124C>T (p.Ser1375Phe) n.9304C>T n.2769C>T c.5036-4811C>T (n.5036-4811C>T) c.5048C>T (p.Ser1683Phe) c.5096C>T (p.Ser1699Phe) c.4070C>T (p.Ser1357Phe) c.3651C>T c.3212C>T (p.Ser1071Phe) c.*1029C>T (n.*1029C>T) c.4365C>T c.3941C>T (p.Ser1314Phe) c.5138C>T (p.Ser1713Phe) c.5135C>T (p.Ser1712Phe) c.5090C>T (p.Ser1697Phe) c.4214C>T (p.Ser1405Phe) c.3983C>T (p.Ser1328Phe) | |
10 | g.94293569C>A | CA470807515 | PLCE1 | c.4173C>A (p.Ser1391=) c.*1640C>A (n.*1640C>A) n.1832C>A n.516C>A c.*381C>A (n.*381C>A) c.4125C>A (p.Ser1375=) n.9305C>A n.2770C>A c.5036-4810C>A (n.5036-4810C>A) c.5049C>A (p.Ser1683=) c.5097C>A (p.Ser1699=) c.4071C>A (p.Ser1357=) c.3652C>A c.3213C>A (p.Ser1071=) c.*1030C>A (n.*1030C>A) c.4366C>A c.3942C>A (p.Ser1314=) c.5139C>A (p.Ser1713=) c.5136C>A (p.Ser1712=) c.5091C>A (p.Ser1697=) c.4215C>A (p.Ser1405=) c.3984C>A (p.Ser1328=) | |
10 | g.94293569C= | CA1928996190 | PLCE1 | c.4173C= (p.Ser1391=) c.*1640C= (n.*1640C=) n.1832C= n.516C= c.*381C= (n.*381C=) c.4125C= (p.Ser1375=) n.9305C= n.2770C= c.5036-4810C= (n.5036-4810C=) c.5049C= (p.Ser1683=) c.5097C= (p.Ser1699=) c.4071C= (p.Ser1357=) c.3652C= c.3213C= (p.Ser1071=) c.*1030C= (n.*1030C=) c.4366C= c.3942C= (p.Ser1314=) c.5139C= (p.Ser1713=) c.5136C= (p.Ser1712=) c.5091C= (p.Ser1697=) c.4215C= (p.Ser1405=) c.3984C= (p.Ser1328=) | |
10 | g.94293569C>G | CA470807517 | PLCE1 | c.4173C>G (p.Ser1391=) c.*1640C>G (n.*1640C>G) n.1832C>G n.516C>G c.*381C>G (n.*381C>G) c.4125C>G (p.Ser1375=) n.9305C>G n.2770C>G c.5036-4810C>G (n.5036-4810C>G) c.5049C>G (p.Ser1683=) c.5097C>G (p.Ser1699=) c.4071C>G (p.Ser1357=) c.3652C>G c.3213C>G (p.Ser1071=) c.*1030C>G (n.*1030C>G) c.4366C>G c.3942C>G (p.Ser1314=) c.5139C>G (p.Ser1713=) c.5136C>G (p.Ser1712=) c.5091C>G (p.Ser1697=) c.4215C>G (p.Ser1405=) c.3984C>G (p.Ser1328=) | |
10 | g.94293569C>T | CA470807519 | PLCE1 | c.4173C>T (p.Ser1391=) c.*1640C>T (n.*1640C>T) n.1832C>T n.516C>T c.*381C>T (n.*381C>T) c.4125C>T (p.Ser1375=) n.9305C>T n.2770C>T c.5036-4810C>T (n.5036-4810C>T) c.5049C>T (p.Ser1683=) c.5097C>T (p.Ser1699=) c.4071C>T (p.Ser1357=) c.3652C>T c.3213C>T (p.Ser1071=) c.*1030C>T (n.*1030C>T) c.4366C>T c.3942C>T (p.Ser1314=) c.5139C>T (p.Ser1713=) c.5136C>T (p.Ser1712=) c.5091C>T (p.Ser1697=) c.4215C>T (p.Ser1405=) c.3984C>T (p.Ser1328=) | dbSNP |
10 | g.94293570A>C | CA377640673 | PLCE1 | c.4174A>C (p.Ile1392Leu) c.*1641A>C (n.*1641A>C) n.1833A>C n.517A>C c.*382A>C (n.*382A>C) c.4126A>C (p.Ile1376Leu) n.9306A>C n.2771A>C c.5036-4809A>C (n.5036-4809A>C) c.5050A>C (p.Ile1684Leu) c.5098A>C (p.Ile1700Leu) c.4072A>C (p.Ile1358Leu) c.3653A>C c.3214A>C (p.Ile1072Leu) c.*1031A>C (n.*1031A>C) c.4367A>C c.3943A>C (p.Ile1315Leu) c.5140A>C (p.Ile1714Leu) c.5137A>C (p.Ile1713Leu) c.5092A>C (p.Ile1698Leu) c.4216A>C (p.Ile1406Leu) c.3985A>C (p.Ile1329Leu) | gnomAD v4 |
10 | g.94293570A>G | CA377640674 | PLCE1 | c.4174A>G (p.Ile1392Val) c.*1641A>G (n.*1641A>G) n.1833A>G n.517A>G c.*382A>G (n.*382A>G) c.4126A>G (p.Ile1376Val) n.9306A>G n.2771A>G c.5036-4809A>G (n.5036-4809A>G) c.5050A>G (p.Ile1684Val) c.5098A>G (p.Ile1700Val) c.4072A>G (p.Ile1358Val) c.3653A>G c.3214A>G (p.Ile1072Val) c.*1031A>G (n.*1031A>G) c.4367A>G c.3943A>G (p.Ile1315Val) c.5140A>G (p.Ile1714Val) c.5137A>G (p.Ile1713Val) c.5092A>G (p.Ile1698Val) c.4216A>G (p.Ile1406Val) c.3985A>G (p.Ile1329Val) | |
10 | g.94293570A>T | CA377640676 | PLCE1 | c.4174A>T (p.Ile1392Phe) c.*1641A>T (n.*1641A>T) n.1833A>T n.517A>T c.*382A>T (n.*382A>T) c.4126A>T (p.Ile1376Phe) n.9306A>T n.2771A>T c.5036-4809A>T (n.5036-4809A>T) c.5050A>T (p.Ile1684Phe) c.5098A>T (p.Ile1700Phe) c.4072A>T (p.Ile1358Phe) c.3653A>T c.3214A>T (p.Ile1072Phe) c.*1031A>T (n.*1031A>T) c.4367A>T c.3943A>T (p.Ile1315Phe) c.5140A>T (p.Ile1714Phe) c.5137A>T (p.Ile1713Phe) c.5092A>T (p.Ile1698Phe) c.4216A>T (p.Ile1406Phe) c.3985A>T (p.Ile1329Phe) | |
10 | g.94293571T>A | CA377640678 | PLCE1 | c.4175T>A (p.Ile1392Asn) c.*1642T>A (n.*1642T>A) n.1834T>A n.518T>A c.*383T>A (n.*383T>A) c.4127T>A (p.Ile1376Asn) n.9307T>A n.2772T>A c.5036-4808T>A (n.5036-4808T>A) c.5051T>A (p.Ile1684Asn) c.5099T>A (p.Ile1700Asn) c.4073T>A (p.Ile1358Asn) c.3654T>A c.3215T>A (p.Ile1072Asn) c.*1032T>A (n.*1032T>A) c.4368T>A c.3944T>A (p.Ile1315Asn) c.5141T>A (p.Ile1714Asn) c.5138T>A (p.Ile1713Asn) c.5093T>A (p.Ile1698Asn) c.4217T>A (p.Ile1406Asn) c.3986T>A (p.Ile1329Asn) | |
10 | g.94293571T>C | CA10632925 | PLCE1 | c.4175T>C (p.Ile1392Thr) c.*1642T>C (n.*1642T>C) n.1834T>C n.518T>C c.*383T>C (n.*383T>C) c.4127T>C (p.Ile1376Thr) n.9307T>C n.2772T>C c.5036-4808T>C (n.5036-4808T>C) c.5051T>C (p.Ile1684Thr) c.5099T>C (p.Ile1700Thr) c.4073T>C (p.Ile1358Thr) c.3654T>C c.3215T>C (p.Ile1072Thr) c.*1032T>C (n.*1032T>C) c.4368T>C c.3944T>C (p.Ile1315Thr) c.5141T>C (p.Ile1714Thr) c.5138T>C (p.Ile1713Thr) c.5093T>C (p.Ile1698Thr) c.4217T>C (p.Ile1406Thr) c.3986T>C (p.Ile1329Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.94293571T>G | CA377640681 | PLCE1 | c.4175T>G (p.Ile1392Ser) c.*1642T>G (n.*1642T>G) n.1834T>G n.518T>G c.*383T>G (n.*383T>G) c.4127T>G (p.Ile1376Ser) n.9307T>G n.2772T>G c.5036-4808T>G (n.5036-4808T>G) c.5051T>G (p.Ile1684Ser) c.5099T>G (p.Ile1700Ser) c.4073T>G (p.Ile1358Ser) c.3654T>G c.3215T>G (p.Ile1072Ser) c.*1032T>G (n.*1032T>G) c.4368T>G c.3944T>G (p.Ile1315Ser) c.5141T>G (p.Ile1714Ser) c.5138T>G (p.Ile1713Ser) c.5093T>G (p.Ile1698Ser) c.4217T>G (p.Ile1406Ser) c.3986T>G (p.Ile1329Ser) | |
10 | g.94293571T= | CA1928996191 | PLCE1 | c.4175T= (p.Ile1392=) c.*1642T= (n.*1642T=) n.1834T= n.518T= c.*383T= (n.*383T=) c.4127T= (p.Ile1376=) n.9307T= n.2772T= c.5036-4808T= (n.5036-4808T=) c.5051T= (p.Ile1684=) c.5099T= (p.Ile1700=) c.4073T= (p.Ile1358=) c.3654T= c.3215T= (p.Ile1072=) c.*1032T= (n.*1032T=) c.4368T= c.3944T= (p.Ile1315=) c.5141T= (p.Ile1714=) c.5138T= (p.Ile1713=) c.5093T= (p.Ile1698=) c.4217T= (p.Ile1406=) c.3986T= (p.Ile1329=) | |
10 | g.94293572T>A | CA470807525 | PLCE1 | c.4176T>A (p.Ile1392=) c.*1643T>A (n.*1643T>A) n.1835T>A n.519T>A c.*384T>A (n.*384T>A) c.4128T>A (p.Ile1376=) n.9308T>A n.2773T>A c.5036-4807T>A (n.5036-4807T>A) c.5052T>A (p.Ile1684=) c.5100T>A (p.Ile1700=) c.4074T>A (p.Ile1358=) c.3655T>A c.3216T>A (p.Ile1072=) c.*1033T>A (n.*1033T>A) c.4369T>A c.3945T>A (p.Ile1315=) c.5142T>A (p.Ile1714=) c.5139T>A (p.Ile1713=) c.5094T>A (p.Ile1698=) c.4218T>A (p.Ile1406=) c.3987T>A (p.Ile1329=) | |
10 | g.94293572T>C | CA470807527 | PLCE1 | c.4176T>C (p.Ile1392=) c.*1643T>C (n.*1643T>C) n.1835T>C n.519T>C c.*384T>C (n.*384T>C) c.4128T>C (p.Ile1376=) n.9308T>C n.2773T>C c.5036-4807T>C (n.5036-4807T>C) c.5052T>C (p.Ile1684=) c.5100T>C (p.Ile1700=) c.4074T>C (p.Ile1358=) c.3655T>C c.3216T>C (p.Ile1072=) c.*1033T>C (n.*1033T>C) c.4369T>C c.3945T>C (p.Ile1315=) c.5142T>C (p.Ile1714=) c.5139T>C (p.Ile1713=) c.5094T>C (p.Ile1698=) c.4218T>C (p.Ile1406=) c.3987T>C (p.Ile1329=) | |
10 | g.94293572T>G | CA377640683 | PLCE1 | c.4176T>G (p.Ile1392Met) c.*1643T>G (n.*1643T>G) n.1835T>G n.519T>G c.*384T>G (n.*384T>G) c.4128T>G (p.Ile1376Met) n.9308T>G n.2773T>G c.5036-4807T>G (n.5036-4807T>G) c.5052T>G (p.Ile1684Met) c.5100T>G (p.Ile1700Met) c.4074T>G (p.Ile1358Met) c.3655T>G c.3216T>G (p.Ile1072Met) c.*1033T>G (n.*1033T>G) c.4369T>G c.3945T>G (p.Ile1315Met) c.5142T>G (p.Ile1714Met) c.5139T>G (p.Ile1713Met) c.5094T>G (p.Ile1698Met) c.4218T>G (p.Ile1406Met) c.3987T>G (p.Ile1329Met) | COSMIC COSMIC COSMIC COSMIC |
10 | g.94293573T>A | CA377640685 | PLCE1 | c.4177T>A (p.Phe1393Ile) c.*1644T>A (n.*1644T>A) n.1836T>A n.520T>A c.*385T>A (n.*385T>A) c.4129T>A (p.Phe1377Ile) n.9309T>A n.2774T>A c.5036-4806T>A (n.5036-4806T>A) c.5053T>A (p.Phe1685Ile) c.5101T>A (p.Phe1701Ile) c.4075T>A (p.Phe1359Ile) c.3656T>A c.3217T>A (p.Phe1073Ile) c.*1034T>A (n.*1034T>A) c.4370T>A c.3946T>A (p.Phe1316Ile) c.5143T>A (p.Phe1715Ile) c.5140T>A (p.Phe1714Ile) c.5095T>A (p.Phe1699Ile) c.4219T>A (p.Phe1407Ile) c.3988T>A (p.Phe1330Ile) | |
10 | g.94293573T>C | CA377640687 | PLCE1 | c.4177T>C (p.Phe1393Leu) c.*1644T>C (n.*1644T>C) n.1836T>C n.520T>C c.*385T>C (n.*385T>C) c.4129T>C (p.Phe1377Leu) n.9309T>C n.2774T>C c.5036-4806T>C (n.5036-4806T>C) c.5053T>C (p.Phe1685Leu) c.5101T>C (p.Phe1701Leu) c.4075T>C (p.Phe1359Leu) c.3656T>C c.3217T>C (p.Phe1073Leu) c.*1034T>C (n.*1034T>C) c.4370T>C c.3946T>C (p.Phe1316Leu) c.5143T>C (p.Phe1715Leu) c.5140T>C (p.Phe1714Leu) c.5095T>C (p.Phe1699Leu) c.4219T>C (p.Phe1407Leu) c.3988T>C (p.Phe1330Leu) | |
10 | g.94293573T>G | CA377640689 | PLCE1 | c.4177T>G (p.Phe1393Val) c.*1644T>G (n.*1644T>G) n.1836T>G n.520T>G c.*385T>G (n.*385T>G) c.4129T>G (p.Phe1377Val) n.9309T>G n.2774T>G c.5036-4806T>G (n.5036-4806T>G) c.5053T>G (p.Phe1685Val) c.5101T>G (p.Phe1701Val) c.4075T>G (p.Phe1359Val) c.3656T>G c.3217T>G (p.Phe1073Val) c.*1034T>G (n.*1034T>G) c.4370T>G c.3946T>G (p.Phe1316Val) c.5143T>G (p.Phe1715Val) c.5140T>G (p.Phe1714Val) c.5095T>G (p.Phe1699Val) c.4219T>G (p.Phe1407Val) c.3988T>G (p.Phe1330Val) | |
10 | g.94293574T>A | CA377640695 | PLCE1 | c.4178T>A (p.Phe1393Tyr) c.*1645T>A (n.*1645T>A) n.1837T>A n.521T>A c.*386T>A (n.*386T>A) c.4130T>A (p.Phe1377Tyr) n.9310T>A n.2775T>A c.5036-4805T>A (n.5036-4805T>A) c.5054T>A (p.Phe1685Tyr) c.5102T>A (p.Phe1701Tyr) c.4076T>A (p.Phe1359Tyr) c.3657T>A c.3218T>A (p.Phe1073Tyr) c.*1035T>A (n.*1035T>A) c.4371T>A c.3947T>A (p.Phe1316Tyr) c.5144T>A (p.Phe1715Tyr) c.5141T>A (p.Phe1714Tyr) c.5096T>A (p.Phe1699Tyr) c.4220T>A (p.Phe1407Tyr) c.3989T>A (p.Phe1330Tyr) | |
10 | g.94293574T>C | CA377640691 | PLCE1 | c.4178T>C (p.Phe1393Ser) c.*1645T>C (n.*1645T>C) n.1837T>C n.521T>C c.*386T>C (n.*386T>C) c.4130T>C (p.Phe1377Ser) n.9310T>C n.2775T>C c.5036-4805T>C (n.5036-4805T>C) c.5054T>C (p.Phe1685Ser) c.5102T>C (p.Phe1701Ser) c.4076T>C (p.Phe1359Ser) c.3657T>C c.3218T>C (p.Phe1073Ser) c.*1035T>C (n.*1035T>C) c.4371T>C c.3947T>C (p.Phe1316Ser) c.5144T>C (p.Phe1715Ser) c.5141T>C (p.Phe1714Ser) c.5096T>C (p.Phe1699Ser) c.4220T>C (p.Phe1407Ser) c.3989T>C (p.Phe1330Ser) | ClinVar dbSNP |
10 | g.94293574T>G | CA377640693 | PLCE1 | c.4178T>G (p.Phe1393Cys) c.*1645T>G (n.*1645T>G) n.1837T>G n.521T>G c.*386T>G (n.*386T>G) c.4130T>G (p.Phe1377Cys) n.9310T>G n.2775T>G c.5036-4805T>G (n.5036-4805T>G) c.5054T>G (p.Phe1685Cys) c.5102T>G (p.Phe1701Cys) c.4076T>G (p.Phe1359Cys) c.3657T>G c.3218T>G (p.Phe1073Cys) c.*1035T>G (n.*1035T>G) c.4371T>G c.3947T>G (p.Phe1316Cys) c.5144T>G (p.Phe1715Cys) c.5141T>G (p.Phe1714Cys) c.5096T>G (p.Phe1699Cys) c.4220T>G (p.Phe1407Cys) c.3989T>G (p.Phe1330Cys) | |
10 | g.94293575T>A | CA377640697 | PLCE1 | c.4179T>A (p.Phe1393Leu) c.*1646T>A (n.*1646T>A) n.1838T>A n.522T>A c.*387T>A (n.*387T>A) c.4131T>A (p.Phe1377Leu) n.9311T>A n.2776T>A c.5036-4804T>A (n.5036-4804T>A) c.5055T>A (p.Phe1685Leu) c.5103T>A (p.Phe1701Leu) c.4077T>A (p.Phe1359Leu) c.3658T>A c.3219T>A (p.Phe1073Leu) c.*1036T>A (n.*1036T>A) c.4372T>A c.3948T>A (p.Phe1316Leu) c.5145T>A (p.Phe1715Leu) c.5142T>A (p.Phe1714Leu) c.5097T>A (p.Phe1699Leu) c.4221T>A (p.Phe1407Leu) c.3990T>A (p.Phe1330Leu) | |
10 | g.94293575T>C | CA470807535 | PLCE1 | c.4179T>C (p.Phe1393=) c.*1646T>C (n.*1646T>C) n.1838T>C n.522T>C c.*387T>C (n.*387T>C) c.4131T>C (p.Phe1377=) n.9311T>C n.2776T>C c.5036-4804T>C (n.5036-4804T>C) c.5055T>C (p.Phe1685=) c.5103T>C (p.Phe1701=) c.4077T>C (p.Phe1359=) c.3658T>C c.3219T>C (p.Phe1073=) c.*1036T>C (n.*1036T>C) c.4372T>C c.3948T>C (p.Phe1316=) c.5145T>C (p.Phe1715=) c.5142T>C (p.Phe1714=) c.5097T>C (p.Phe1699=) c.4221T>C (p.Phe1407=) c.3990T>C (p.Phe1330=) | |
10 | g.94293575T>G | CA377640698 | PLCE1 | c.4179T>G (p.Phe1393Leu) c.*1646T>G (n.*1646T>G) n.1838T>G n.522T>G c.*387T>G (n.*387T>G) c.4131T>G (p.Phe1377Leu) n.9311T>G n.2776T>G c.5036-4804T>G (n.5036-4804T>G) c.5055T>G (p.Phe1685Leu) c.5103T>G (p.Phe1701Leu) c.4077T>G (p.Phe1359Leu) c.3658T>G c.3219T>G (p.Phe1073Leu) c.*1036T>G (n.*1036T>G) c.4372T>G c.3948T>G (p.Phe1316Leu) c.5145T>G (p.Phe1715Leu) c.5142T>G (p.Phe1714Leu) c.5097T>G (p.Phe1699Leu) c.4221T>G (p.Phe1407Leu) c.3990T>G (p.Phe1330Leu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94293575T= | CA1928996192 | PLCE1 | c.4179T= (p.Phe1393=) c.*1646T= (n.*1646T=) n.1838T= n.522T= c.*387T= (n.*387T=) c.4131T= (p.Phe1377=) n.9311T= n.2776T= c.5036-4804T= (n.5036-4804T=) c.5055T= (p.Phe1685=) c.5103T= (p.Phe1701=) c.4077T= (p.Phe1359=) c.3658T= c.3219T= (p.Phe1073=) c.*1036T= (n.*1036T=) c.4372T= c.3948T= (p.Phe1316=) c.5145T= (p.Phe1715=) c.5142T= (p.Phe1714=) c.5097T= (p.Phe1699=) c.4221T= (p.Phe1407=) c.3990T= (p.Phe1330=) | |
10 | g.94293576G>A | CA377640702 | PLCE1 | c.4180G>A (p.Gly1394Ser) c.*1647G>A (n.*1647G>A) n.1839G>A n.523G>A c.*388G>A (n.*388G>A) c.4132G>A (p.Gly1378Ser) n.9312G>A n.2777G>A c.5036-4803G>A (n.5036-4803G>A) c.5056G>A (p.Gly1686Ser) c.5104G>A (p.Gly1702Ser) c.4078G>A (p.Gly1360Ser) c.3659G>A c.3220G>A (p.Gly1074Ser) c.*1037G>A (n.*1037G>A) c.4373G>A c.3949G>A (p.Gly1317Ser) c.5146G>A (p.Gly1716Ser) c.5143G>A (p.Gly1715Ser) c.5098G>A (p.Gly1700Ser) c.4222G>A (p.Gly1408Ser) c.3991G>A (p.Gly1331Ser) | |
10 | g.94293576G>C | CA377640703 | PLCE1 | c.4180G>C (p.Gly1394Arg) c.*1647G>C (n.*1647G>C) n.1839G>C n.523G>C c.*388G>C (n.*388G>C) c.4132G>C (p.Gly1378Arg) n.9312G>C n.2777G>C c.5036-4803G>C (n.5036-4803G>C) c.5056G>C (p.Gly1686Arg) c.5104G>C (p.Gly1702Arg) c.4078G>C (p.Gly1360Arg) c.3659G>C c.3220G>C (p.Gly1074Arg) c.*1037G>C (n.*1037G>C) c.4373G>C c.3949G>C (p.Gly1317Arg) c.5146G>C (p.Gly1716Arg) c.5143G>C (p.Gly1715Arg) c.5098G>C (p.Gly1700Arg) c.4222G>C (p.Gly1408Arg) c.3991G>C (p.Gly1331Arg) | |
10 | g.94293576G>T | CA377640705 | PLCE1 | c.4180G>T (p.Gly1394Cys) c.*1647G>T (n.*1647G>T) n.1839G>T n.523G>T c.*388G>T (n.*388G>T) c.4132G>T (p.Gly1378Cys) n.9312G>T n.2777G>T c.5036-4803G>T (n.5036-4803G>T) c.5056G>T (p.Gly1686Cys) c.5104G>T (p.Gly1702Cys) c.4078G>T (p.Gly1360Cys) c.3659G>T c.3220G>T (p.Gly1074Cys) c.*1037G>T (n.*1037G>T) c.4373G>T c.3949G>T (p.Gly1317Cys) c.5146G>T (p.Gly1716Cys) c.5143G>T (p.Gly1715Cys) c.5098G>T (p.Gly1700Cys) c.4222G>T (p.Gly1408Cys) c.3991G>T (p.Gly1331Cys) | |
10 | g.94293577G>A | CA377640707 | PLCE1 | c.4181G>A (p.Gly1394Asp) c.*1648G>A (n.*1648G>A) n.1840G>A n.524G>A c.*389G>A (n.*389G>A) c.4133G>A (p.Gly1378Asp) n.9313G>A n.2778G>A c.5036-4802G>A (n.5036-4802G>A) c.5057G>A (p.Gly1686Asp) c.5105G>A (p.Gly1702Asp) c.4079G>A (p.Gly1360Asp) c.3660G>A c.3221G>A (p.Gly1074Asp) c.*1038G>A (n.*1038G>A) c.4374G>A c.3950G>A (p.Gly1317Asp) c.5147G>A (p.Gly1716Asp) c.5144G>A (p.Gly1715Asp) c.5099G>A (p.Gly1700Asp) c.4223G>A (p.Gly1408Asp) c.3992G>A (p.Gly1331Asp) | |
10 | g.94293577G>C | CA377640709 | PLCE1 | c.4181G>C (p.Gly1394Ala) c.*1648G>C (n.*1648G>C) n.1840G>C n.524G>C c.*389G>C (n.*389G>C) c.4133G>C (p.Gly1378Ala) n.9313G>C n.2778G>C c.5036-4802G>C (n.5036-4802G>C) c.5057G>C (p.Gly1686Ala) c.5105G>C (p.Gly1702Ala) c.4079G>C (p.Gly1360Ala) c.3660G>C c.3221G>C (p.Gly1074Ala) c.*1038G>C (n.*1038G>C) c.4374G>C c.3950G>C (p.Gly1317Ala) c.5147G>C (p.Gly1716Ala) c.5144G>C (p.Gly1715Ala) c.5099G>C (p.Gly1700Ala) c.4223G>C (p.Gly1408Ala) c.3992G>C (p.Gly1331Ala) | |
10 | g.94293577G>T | CA377640710 | PLCE1 | c.4181G>T (p.Gly1394Val) c.*1648G>T (n.*1648G>T) n.1840G>T n.524G>T c.*389G>T (n.*389G>T) c.4133G>T (p.Gly1378Val) n.9313G>T n.2778G>T c.5036-4802G>T (n.5036-4802G>T) c.5057G>T (p.Gly1686Val) c.5105G>T (p.Gly1702Val) c.4079G>T (p.Gly1360Val) c.3660G>T c.3221G>T (p.Gly1074Val) c.*1038G>T (n.*1038G>T) c.4374G>T c.3950G>T (p.Gly1317Val) c.5147G>T (p.Gly1716Val) c.5144G>T (p.Gly1715Val) c.5099G>T (p.Gly1700Val) c.4223G>T (p.Gly1408Val) c.3992G>T (p.Gly1331Val) | |
10 | g.94293578C>A | CA470807541 | PLCE1 | c.4182C>A (p.Gly1394=) c.*1649C>A (n.*1649C>A) n.1841C>A n.525C>A c.*390C>A (n.*390C>A) c.4134C>A (p.Gly1378=) n.9314C>A n.2779C>A c.5036-4801C>A (n.5036-4801C>A) c.5058C>A (p.Gly1686=) c.5106C>A (p.Gly1702=) c.4080C>A (p.Gly1360=) c.3661C>A c.3222C>A (p.Gly1074=) c.*1039C>A (n.*1039C>A) c.4375C>A c.3951C>A (p.Gly1317=) c.5148C>A (p.Gly1716=) c.5145C>A (p.Gly1715=) c.5100C>A (p.Gly1700=) c.4224C>A (p.Gly1408=) c.3993C>A (p.Gly1331=) | |
10 | g.94293578C>G | CA470807543 | PLCE1 | c.4182C>G (p.Gly1394=) c.*1649C>G (n.*1649C>G) n.1841C>G n.525C>G c.*390C>G (n.*390C>G) c.4134C>G (p.Gly1378=) n.9314C>G n.2779C>G c.5036-4801C>G (n.5036-4801C>G) c.5058C>G (p.Gly1686=) c.5106C>G (p.Gly1702=) c.4080C>G (p.Gly1360=) c.3661C>G c.3222C>G (p.Gly1074=) c.*1039C>G (n.*1039C>G) c.4375C>G c.3951C>G (p.Gly1317=) c.5148C>G (p.Gly1716=) c.5145C>G (p.Gly1715=) c.5100C>G (p.Gly1700=) c.4224C>G (p.Gly1408=) c.3993C>G (p.Gly1331=) | |
10 | g.94293578C>T | CA470807544 | PLCE1 | c.4182C>T (p.Gly1394=) c.*1649C>T (n.*1649C>T) n.1841C>T n.525C>T c.*390C>T (n.*390C>T) c.4134C>T (p.Gly1378=) n.9314C>T n.2779C>T c.5036-4801C>T (n.5036-4801C>T) c.5058C>T (p.Gly1686=) c.5106C>T (p.Gly1702=) c.4080C>T (p.Gly1360=) c.3661C>T c.3222C>T (p.Gly1074=) c.*1039C>T (n.*1039C>T) c.4375C>T c.3951C>T (p.Gly1317=) c.5148C>T (p.Gly1716=) c.5145C>T (p.Gly1715=) c.5100C>T (p.Gly1700=) c.4224C>T (p.Gly1408=) c.3993C>T (p.Gly1331=) | |
10 | g.94293579A>C | CA377640713 | PLCE1 | c.4183A>C (p.Asn1395His) c.*1650A>C (n.*1650A>C) n.1842A>C n.526A>C c.*391A>C (n.*391A>C) c.4135A>C (p.Asn1379His) n.9315A>C n.2780A>C c.5036-4800A>C (n.5036-4800A>C) c.5059A>C (p.Asn1687His) c.5107A>C (p.Asn1703His) c.4081A>C (p.Asn1361His) c.3662A>C c.3223A>C (p.Asn1075His) c.*1040A>C (n.*1040A>C) c.4376A>C c.3952A>C (p.Asn1318His) c.5149A>C (p.Asn1717His) c.5146A>C (p.Asn1716His) c.5101A>C (p.Asn1701His) c.4225A>C (p.Asn1409His) c.3994A>C (p.Asn1332His) | |
10 | g.94293579A>G | CA377640715 | PLCE1 | c.4183A>G (p.Asn1395Asp) c.*1650A>G (n.*1650A>G) n.1842A>G n.526A>G c.*391A>G (n.*391A>G) c.4135A>G (p.Asn1379Asp) n.9315A>G n.2780A>G c.5036-4800A>G (n.5036-4800A>G) c.5059A>G (p.Asn1687Asp) c.5107A>G (p.Asn1703Asp) c.4081A>G (p.Asn1361Asp) c.3662A>G c.3223A>G (p.Asn1075Asp) c.*1040A>G (n.*1040A>G) c.4376A>G c.3952A>G (p.Asn1318Asp) c.5149A>G (p.Asn1717Asp) c.5146A>G (p.Asn1716Asp) c.5101A>G (p.Asn1701Asp) c.4225A>G (p.Asn1409Asp) c.3994A>G (p.Asn1332Asp) | |
10 | g.94293579A>T | CA377640716 | PLCE1 | c.4183A>T (p.Asn1395Tyr) c.*1650A>T (n.*1650A>T) n.1842A>T n.526A>T c.*391A>T (n.*391A>T) c.4135A>T (p.Asn1379Tyr) n.9315A>T n.2780A>T c.5036-4800A>T (n.5036-4800A>T) c.5059A>T (p.Asn1687Tyr) c.5107A>T (p.Asn1703Tyr) c.4081A>T (p.Asn1361Tyr) c.3662A>T c.3223A>T (p.Asn1075Tyr) c.*1040A>T (n.*1040A>T) c.4376A>T c.3952A>T (p.Asn1318Tyr) c.5149A>T (p.Asn1717Tyr) c.5146A>T (p.Asn1716Tyr) c.5101A>T (p.Asn1701Tyr) c.4225A>T (p.Asn1409Tyr) c.3994A>T (p.Asn1332Tyr) | |
10 | g.94293580A>C | CA377640719 | PLCE1 | c.4184A>C (p.Asn1395Thr) c.*1651A>C (n.*1651A>C) n.1843A>C n.527A>C c.*392A>C (n.*392A>C) c.4136A>C (p.Asn1379Thr) n.9316A>C n.2781A>C c.5036-4799A>C (n.5036-4799A>C) c.5060A>C (p.Asn1687Thr) c.5108A>C (p.Asn1703Thr) c.4082A>C (p.Asn1361Thr) c.3663A>C c.3224A>C (p.Asn1075Thr) c.*1041A>C (n.*1041A>C) c.4377A>C c.3953A>C (p.Asn1318Thr) c.5150A>C (p.Asn1717Thr) c.5147A>C (p.Asn1716Thr) c.5102A>C (p.Asn1701Thr) c.4226A>C (p.Asn1409Thr) c.3995A>C (p.Asn1332Thr) | |
10 | g.94293580A>G | CA377640722 | PLCE1 | c.4184A>G (p.Asn1395Ser) c.*1651A>G (n.*1651A>G) n.1843A>G n.527A>G c.*392A>G (n.*392A>G) c.4136A>G (p.Asn1379Ser) n.9316A>G n.2781A>G c.5036-4799A>G (n.5036-4799A>G) c.5060A>G (p.Asn1687Ser) c.5108A>G (p.Asn1703Ser) c.4082A>G (p.Asn1361Ser) c.3663A>G c.3224A>G (p.Asn1075Ser) c.*1041A>G (n.*1041A>G) c.4377A>G c.3953A>G (p.Asn1318Ser) c.5150A>G (p.Asn1717Ser) c.5147A>G (p.Asn1716Ser) c.5102A>G (p.Asn1701Ser) c.4226A>G (p.Asn1409Ser) c.3995A>G (p.Asn1332Ser) | gnomAD v4 |
10 | g.94293580A>T | CA377640720 | PLCE1 | c.4184A>T (p.Asn1395Ile) c.*1651A>T (n.*1651A>T) n.1843A>T n.527A>T c.*392A>T (n.*392A>T) c.4136A>T (p.Asn1379Ile) n.9316A>T n.2781A>T c.5036-4799A>T (n.5036-4799A>T) c.5060A>T (p.Asn1687Ile) c.5108A>T (p.Asn1703Ile) c.4082A>T (p.Asn1361Ile) c.3663A>T c.3224A>T (p.Asn1075Ile) c.*1041A>T (n.*1041A>T) c.4377A>T c.3953A>T (p.Asn1318Ile) c.5150A>T (p.Asn1717Ile) c.5147A>T (p.Asn1716Ile) c.5102A>T (p.Asn1701Ile) c.4226A>T (p.Asn1409Ile) c.3995A>T (p.Asn1332Ile) | gnomAD v4 |
10 | g.94293581C>A | CA377640723 | PLCE1 | c.4185C>A (p.Asn1395Lys) c.*1652C>A (n.*1652C>A) n.1844C>A n.528C>A c.*393C>A (n.*393C>A) c.4137C>A (p.Asn1379Lys) n.9317C>A n.2782C>A c.5036-4798C>A (n.5036-4798C>A) c.5061C>A (p.Asn1687Lys) c.5109C>A (p.Asn1703Lys) c.4083C>A (p.Asn1361Lys) c.3664C>A c.3225C>A (p.Asn1075Lys) c.*1042C>A (n.*1042C>A) c.4378C>A c.3954C>A (p.Asn1318Lys) c.5151C>A (p.Asn1717Lys) c.5148C>A (p.Asn1716Lys) c.5103C>A (p.Asn1701Lys) c.4227C>A (p.Asn1409Lys) c.3996C>A (p.Asn1332Lys) | |
10 | g.94293581C= | CA1928996193 | PLCE1 | c.4185C= (p.Asn1395=) c.*1652C= (n.*1652C=) n.1844C= n.528C= c.*393C= (n.*393C=) c.4137C= (p.Asn1379=) n.9317C= n.2782C= c.5036-4798C= (n.5036-4798C=) c.5061C= (p.Asn1687=) c.5109C= (p.Asn1703=) c.4083C= (p.Asn1361=) c.3664C= c.3225C= (p.Asn1075=) c.*1042C= (n.*1042C=) c.4378C= c.3954C= (p.Asn1318=) c.5151C= (p.Asn1717=) c.5148C= (p.Asn1716=) c.5103C= (p.Asn1701=) c.4227C= (p.Asn1409=) c.3996C= (p.Asn1332=) | |
10 | g.94293581C>G | CA377640725 | PLCE1 | c.4185C>G (p.Asn1395Lys) c.*1652C>G (n.*1652C>G) n.1844C>G n.528C>G c.*393C>G (n.*393C>G) c.4137C>G (p.Asn1379Lys) n.9317C>G n.2782C>G c.5036-4798C>G (n.5036-4798C>G) c.5061C>G (p.Asn1687Lys) c.5109C>G (p.Asn1703Lys) c.4083C>G (p.Asn1361Lys) c.3664C>G c.3225C>G (p.Asn1075Lys) c.*1042C>G (n.*1042C>G) c.4378C>G c.3954C>G (p.Asn1318Lys) c.5151C>G (p.Asn1717Lys) c.5148C>G (p.Asn1716Lys) c.5103C>G (p.Asn1701Lys) c.4227C>G (p.Asn1409Lys) c.3996C>G (p.Asn1332Lys) | |
10 | g.94293581C>T | CA470807552 | PLCE1 | c.4185C>T (p.Asn1395=) c.*1652C>T (n.*1652C>T) n.1844C>T n.528C>T c.*393C>T (n.*393C>T) c.4137C>T (p.Asn1379=) n.9317C>T n.2782C>T c.5036-4798C>T (n.5036-4798C>T) c.5061C>T (p.Asn1687=) c.5109C>T (p.Asn1703=) c.4083C>T (p.Asn1361=) c.3664C>T c.3225C>T (p.Asn1075=) c.*1042C>T (n.*1042C>T) c.4378C>T c.3954C>T (p.Asn1318=) c.5151C>T (p.Asn1717=) c.5148C>T (p.Asn1716=) c.5103C>T (p.Asn1701=) c.4227C>T (p.Asn1409=) c.3996C>T (p.Asn1332=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94293582A>C | CA377640727 | PLCE1 | c.4186A>C (p.Asn1396His) c.*1653A>C (n.*1653A>C) n.1845A>C n.529A>C c.*394A>C (n.*394A>C) c.4138A>C (p.Asn1380His) n.9318A>C n.2783A>C c.5036-4797A>C (n.5036-4797A>C) c.5062A>C (p.Asn1688His) c.5110A>C (p.Asn1704His) c.4084A>C (p.Asn1362His) c.3665A>C c.3226A>C (p.Asn1076His) c.*1043A>C (n.*1043A>C) c.4379A>C c.3955A>C (p.Asn1319His) c.5152A>C (p.Asn1718His) c.5149A>C (p.Asn1717His) c.5104A>C (p.Asn1702His) c.4228A>C (p.Asn1410His) c.3997A>C (p.Asn1333His) | |
10 | g.94293582A>G | CA377640729 | PLCE1 | c.4186A>G (p.Asn1396Asp) c.*1653A>G (n.*1653A>G) n.1845A>G n.529A>G c.*394A>G (n.*394A>G) c.4138A>G (p.Asn1380Asp) n.9318A>G n.2783A>G c.5036-4797A>G (n.5036-4797A>G) c.5062A>G (p.Asn1688Asp) c.5110A>G (p.Asn1704Asp) c.4084A>G (p.Asn1362Asp) c.3665A>G c.3226A>G (p.Asn1076Asp) c.*1043A>G (n.*1043A>G) c.4379A>G c.3955A>G (p.Asn1319Asp) c.5152A>G (p.Asn1718Asp) c.5149A>G (p.Asn1717Asp) c.5104A>G (p.Asn1702Asp) c.4228A>G (p.Asn1410Asp) c.3997A>G (p.Asn1333Asp) | |
10 | g.94293582A>T | CA377640731 | PLCE1 | c.4186A>T (p.Asn1396Tyr) c.*1653A>T (n.*1653A>T) n.1845A>T n.529A>T c.*394A>T (n.*394A>T) c.4138A>T (p.Asn1380Tyr) n.9318A>T n.2783A>T c.5036-4797A>T (n.5036-4797A>T) c.5062A>T (p.Asn1688Tyr) c.5110A>T (p.Asn1704Tyr) c.4084A>T (p.Asn1362Tyr) c.3665A>T c.3226A>T (p.Asn1076Tyr) c.*1043A>T (n.*1043A>T) c.4379A>T c.3955A>T (p.Asn1319Tyr) c.5152A>T (p.Asn1718Tyr) c.5149A>T (p.Asn1717Tyr) c.5104A>T (p.Asn1702Tyr) c.4228A>T (p.Asn1410Tyr) c.3997A>T (p.Asn1333Tyr) | |
10 | g.94293583A= | CA1928996194 | PLCE1 | c.4187A= (p.Asn1396=) c.*1654A= (n.*1654A=) n.1846A= n.530A= c.*395A= (n.*395A=) c.4139A= (p.Asn1380=) n.9319A= n.2784A= c.5036-4796A= (n.5036-4796A=) c.5063A= (p.Asn1688=) c.5111A= (p.Asn1704=) c.4085A= (p.Asn1362=) c.3666A= c.3227A= (p.Asn1076=) c.*1044A= (n.*1044A=) c.4380A= c.3956A= (p.Asn1319=) c.5153A= (p.Asn1718=) c.5150A= (p.Asn1717=) c.5105A= (p.Asn1702=) c.4229A= (p.Asn1410=) c.3998A= (p.Asn1333=) |