Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.94304485T>A | CA377642698 | PLCE1 | c.4538T>A (p.Leu1513His) c.*2005T>A (n.*2005T>A) n.2197T>A n.881T>A c.*746T>A (n.*746T>A) c.4490T>A (p.Leu1497His) n.9670T>A n.3135T>A c.5330T>A (p.Leu1777His) c.5414T>A (p.Leu1805His) c.5462T>A (p.Leu1821His) c.4436T>A (p.Leu1479His) c.4017T>A c.3578T>A (p.Leu1193His) c.*1395T>A (n.*1395T>A) c.4731T>A c.5504T>A (p.Leu1835His) c.5501T>A (p.Leu1834His) c.5456T>A (p.Leu1819His) c.4580T>A (p.Leu1527His) c.4349T>A (p.Leu1450His) | |
10 | g.94304485T>C | CA377642699 | PLCE1 | c.4538T>C (p.Leu1513Pro) c.*2005T>C (n.*2005T>C) n.2197T>C n.881T>C c.*746T>C (n.*746T>C) c.4490T>C (p.Leu1497Pro) n.9670T>C n.3135T>C c.5330T>C (p.Leu1777Pro) c.5414T>C (p.Leu1805Pro) c.5462T>C (p.Leu1821Pro) c.4436T>C (p.Leu1479Pro) c.4017T>C c.3578T>C (p.Leu1193Pro) c.*1395T>C (n.*1395T>C) c.4731T>C c.5504T>C (p.Leu1835Pro) c.5501T>C (p.Leu1834Pro) c.5456T>C (p.Leu1819Pro) c.4580T>C (p.Leu1527Pro) c.4349T>C (p.Leu1450Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94304485T>G | CA377642700 | PLCE1 | c.4538T>G (p.Leu1513Arg) c.*2005T>G (n.*2005T>G) n.2197T>G n.881T>G c.*746T>G (n.*746T>G) c.4490T>G (p.Leu1497Arg) n.9670T>G n.3135T>G c.5330T>G (p.Leu1777Arg) c.5414T>G (p.Leu1805Arg) c.5462T>G (p.Leu1821Arg) c.4436T>G (p.Leu1479Arg) c.4017T>G c.3578T>G (p.Leu1193Arg) c.*1395T>G (n.*1395T>G) c.4731T>G c.5504T>G (p.Leu1835Arg) c.5501T>G (p.Leu1834Arg) c.5456T>G (p.Leu1819Arg) c.4580T>G (p.Leu1527Arg) c.4349T>G (p.Leu1450Arg) | |
10 | g.94304485T= | CA1929000759 | PLCE1 | c.4538T= (p.Leu1513=) c.*2005T= (n.*2005T=) n.2197T= n.881T= c.*746T= (n.*746T=) c.4490T= (p.Leu1497=) n.9670T= n.3135T= c.5330T= (p.Leu1777=) c.5414T= (p.Leu1805=) c.5462T= (p.Leu1821=) c.4436T= (p.Leu1479=) c.4017T= c.3578T= (p.Leu1193=) c.*1395T= (n.*1395T=) c.4731T= c.5504T= (p.Leu1835=) c.5501T= (p.Leu1834=) c.5456T= (p.Leu1819=) c.4580T= (p.Leu1527=) c.4349T= (p.Leu1450=) | |
10 | g.94304486C>A | CA470808447 | PLCE1 | c.4539C>A (p.Leu1513=) c.*2006C>A (n.*2006C>A) n.2198C>A n.882C>A c.*747C>A (n.*747C>A) c.4491C>A (p.Leu1497=) n.9671C>A n.3136C>A c.5331C>A (p.Leu1777=) c.5415C>A (p.Leu1805=) c.5463C>A (p.Leu1821=) c.4437C>A (p.Leu1479=) c.4018C>A c.3579C>A (p.Leu1193=) c.*1396C>A (n.*1396C>A) c.4732C>A c.5505C>A (p.Leu1835=) c.5502C>A (p.Leu1834=) c.5457C>A (p.Leu1819=) c.4581C>A (p.Leu1527=) c.4350C>A (p.Leu1450=) | |
10 | g.94304486C= | CA1929000760 | PLCE1 | c.4539C= (p.Leu1513=) c.*2006C= (n.*2006C=) n.2198C= n.882C= c.*747C= (n.*747C=) c.4491C= (p.Leu1497=) n.9671C= n.3136C= c.5331C= (p.Leu1777=) c.5415C= (p.Leu1805=) c.5463C= (p.Leu1821=) c.4437C= (p.Leu1479=) c.4018C= c.3579C= (p.Leu1193=) c.*1396C= (n.*1396C=) c.4732C= c.5505C= (p.Leu1835=) c.5502C= (p.Leu1834=) c.5457C= (p.Leu1819=) c.4581C= (p.Leu1527=) c.4350C= (p.Leu1450=) | |
10 | g.94304486C>G | CA470808448 | PLCE1 | c.4539C>G (p.Leu1513=) c.*2006C>G (n.*2006C>G) n.2198C>G n.882C>G c.*747C>G (n.*747C>G) c.4491C>G (p.Leu1497=) n.9671C>G n.3136C>G c.5331C>G (p.Leu1777=) c.5415C>G (p.Leu1805=) c.5463C>G (p.Leu1821=) c.4437C>G (p.Leu1479=) c.4018C>G c.3579C>G (p.Leu1193=) c.*1396C>G (n.*1396C>G) c.4732C>G c.5505C>G (p.Leu1835=) c.5502C>G (p.Leu1834=) c.5457C>G (p.Leu1819=) c.4581C>G (p.Leu1527=) c.4350C>G (p.Leu1450=) | |
10 | g.94304486C>T | CA5613373 | PLCE1 | c.4539C>T (p.Leu1513=) c.*2006C>T (n.*2006C>T) n.2198C>T n.882C>T c.*747C>T (n.*747C>T) c.4491C>T (p.Leu1497=) n.9671C>T n.3136C>T c.5331C>T (p.Leu1777=) c.5415C>T (p.Leu1805=) c.5463C>T (p.Leu1821=) c.4437C>T (p.Leu1479=) c.4018C>T c.3579C>T (p.Leu1193=) c.*1396C>T (n.*1396C>T) c.4732C>T c.5505C>T (p.Leu1835=) c.5502C>T (p.Leu1834=) c.5457C>T (p.Leu1819=) c.4581C>T (p.Leu1527=) c.4350C>T (p.Leu1450=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94304487C>A | CA377642701 | PLCE1 | c.4540C>A (p.Pro1514Thr) c.*2007C>A (n.*2007C>A) n.2199C>A n.883C>A c.*748C>A (n.*748C>A) c.4492C>A (p.Pro1498Thr) n.9672C>A n.3137C>A c.5332C>A (p.Pro1778Thr) c.5416C>A (p.Pro1806Thr) c.5464C>A (p.Pro1822Thr) c.4438C>A (p.Pro1480Thr) c.4019C>A c.3580C>A (p.Pro1194Thr) c.*1397C>A (n.*1397C>A) c.4733C>A c.5506C>A (p.Pro1836Thr) c.5503C>A (p.Pro1835Thr) c.5458C>A (p.Pro1820Thr) c.4582C>A (p.Pro1528Thr) c.4351C>A (p.Pro1451Thr) | |
10 | g.94304487C>G | CA377642702 | PLCE1 | c.4540C>G (p.Pro1514Ala) c.*2007C>G (n.*2007C>G) n.2199C>G n.883C>G c.*748C>G (n.*748C>G) c.4492C>G (p.Pro1498Ala) n.9672C>G n.3137C>G c.5332C>G (p.Pro1778Ala) c.5416C>G (p.Pro1806Ala) c.5464C>G (p.Pro1822Ala) c.4438C>G (p.Pro1480Ala) c.4019C>G c.3580C>G (p.Pro1194Ala) c.*1397C>G (n.*1397C>G) c.4733C>G c.5506C>G (p.Pro1836Ala) c.5503C>G (p.Pro1835Ala) c.5458C>G (p.Pro1820Ala) c.4582C>G (p.Pro1528Ala) c.4351C>G (p.Pro1451Ala) | |
10 | g.94304487C>T | CA377642703 | PLCE1 | c.4540C>T (p.Pro1514Ser) c.*2007C>T (n.*2007C>T) n.2199C>T n.883C>T c.*748C>T (n.*748C>T) c.4492C>T (p.Pro1498Ser) n.9672C>T n.3137C>T c.5332C>T (p.Pro1778Ser) c.5416C>T (p.Pro1806Ser) c.5464C>T (p.Pro1822Ser) c.4438C>T (p.Pro1480Ser) c.4019C>T c.3580C>T (p.Pro1194Ser) c.*1397C>T (n.*1397C>T) c.4733C>T c.5506C>T (p.Pro1836Ser) c.5503C>T (p.Pro1835Ser) c.5458C>T (p.Pro1820Ser) c.4582C>T (p.Pro1528Ser) c.4351C>T (p.Pro1451Ser) | |
10 | g.94304488C>A | CA377642704 | PLCE1 | c.4541C>A (p.Pro1514His) c.*2008C>A (n.*2008C>A) n.2200C>A n.884C>A c.*749C>A (n.*749C>A) c.4493C>A (p.Pro1498His) n.9673C>A n.3138C>A c.5333C>A (p.Pro1778His) c.5417C>A (p.Pro1806His) c.5465C>A (p.Pro1822His) c.4439C>A (p.Pro1480His) c.4020C>A c.3581C>A (p.Pro1194His) c.*1398C>A (n.*1398C>A) c.4734C>A c.5507C>A (p.Pro1836His) c.5504C>A (p.Pro1835His) c.5459C>A (p.Pro1820His) c.4583C>A (p.Pro1528His) c.4352C>A (p.Pro1451His) | |
10 | g.94304488C>G | CA377642705 | PLCE1 | c.4541C>G (p.Pro1514Arg) c.*2008C>G (n.*2008C>G) n.2200C>G n.884C>G c.*749C>G (n.*749C>G) c.4493C>G (p.Pro1498Arg) n.9673C>G n.3138C>G c.5333C>G (p.Pro1778Arg) c.5417C>G (p.Pro1806Arg) c.5465C>G (p.Pro1822Arg) c.4439C>G (p.Pro1480Arg) c.4020C>G c.3581C>G (p.Pro1194Arg) c.*1398C>G (n.*1398C>G) c.4734C>G c.5507C>G (p.Pro1836Arg) c.5504C>G (p.Pro1835Arg) c.5459C>G (p.Pro1820Arg) c.4583C>G (p.Pro1528Arg) c.4352C>G (p.Pro1451Arg) | |
10 | g.94304488C>T | CA377642706 | PLCE1 | c.4541C>T (p.Pro1514Leu) c.*2008C>T (n.*2008C>T) n.2200C>T n.884C>T c.*749C>T (n.*749C>T) c.4493C>T (p.Pro1498Leu) n.9673C>T n.3138C>T c.5333C>T (p.Pro1778Leu) c.5417C>T (p.Pro1806Leu) c.5465C>T (p.Pro1822Leu) c.4439C>T (p.Pro1480Leu) c.4020C>T c.3581C>T (p.Pro1194Leu) c.*1398C>T (n.*1398C>T) c.4734C>T c.5507C>T (p.Pro1836Leu) c.5504C>T (p.Pro1835Leu) c.5459C>T (p.Pro1820Leu) c.4583C>T (p.Pro1528Leu) c.4352C>T (p.Pro1451Leu) | |
10 | g.94304489T>A | CA470808450 | PLCE1 | c.4542T>A (p.Pro1514=) c.*2009T>A (n.*2009T>A) n.2201T>A n.885T>A c.*750T>A (n.*750T>A) c.4494T>A (p.Pro1498=) n.9674T>A n.3139T>A c.5334T>A (p.Pro1778=) c.5418T>A (p.Pro1806=) c.5466T>A (p.Pro1822=) c.4440T>A (p.Pro1480=) c.4021T>A c.3582T>A (p.Pro1194=) c.*1399T>A (n.*1399T>A) c.4735T>A c.5508T>A (p.Pro1836=) c.5505T>A (p.Pro1835=) c.5460T>A (p.Pro1820=) c.4584T>A (p.Pro1528=) c.4353T>A (p.Pro1451=) | |
10 | g.94304489T>C | CA470808453 | PLCE1 | c.4542T>C (p.Pro1514=) c.*2009T>C (n.*2009T>C) n.2201T>C n.885T>C c.*750T>C (n.*750T>C) c.4494T>C (p.Pro1498=) n.9674T>C n.3139T>C c.5334T>C (p.Pro1778=) c.5418T>C (p.Pro1806=) c.5466T>C (p.Pro1822=) c.4440T>C (p.Pro1480=) c.4021T>C c.3582T>C (p.Pro1194=) c.*1399T>C (n.*1399T>C) c.4735T>C c.5508T>C (p.Pro1836=) c.5505T>C (p.Pro1835=) c.5460T>C (p.Pro1820=) c.4584T>C (p.Pro1528=) c.4353T>C (p.Pro1451=) | |
10 | g.94304489T>G | CA470808452 | PLCE1 | c.4542T>G (p.Pro1514=) c.*2009T>G (n.*2009T>G) n.2201T>G n.885T>G c.*750T>G (n.*750T>G) c.4494T>G (p.Pro1498=) n.9674T>G n.3139T>G c.5334T>G (p.Pro1778=) c.5418T>G (p.Pro1806=) c.5466T>G (p.Pro1822=) c.4440T>G (p.Pro1480=) c.4021T>G c.3582T>G (p.Pro1194=) c.*1399T>G (n.*1399T>G) c.4735T>G c.5508T>G (p.Pro1836=) c.5505T>G (p.Pro1835=) c.5460T>G (p.Pro1820=) c.4584T>G (p.Pro1528=) c.4353T>G (p.Pro1451=) | |
10 | g.94304490T>A | CA377642707 | PLCE1 | c.4543T>A (p.Leu1515Ile) c.*2010T>A (n.*2010T>A) n.2202T>A n.886T>A c.*751T>A (n.*751T>A) c.4495T>A (p.Leu1499Ile) n.9675T>A n.3140T>A c.5335T>A (p.Leu1779Ile) c.5419T>A (p.Leu1807Ile) c.5467T>A (p.Leu1823Ile) c.4441T>A (p.Leu1481Ile) c.4022T>A c.3583T>A (p.Leu1195Ile) c.*1400T>A (n.*1400T>A) c.4736T>A c.5509T>A (p.Leu1837Ile) c.5506T>A (p.Leu1836Ile) c.5461T>A (p.Leu1821Ile) c.4585T>A (p.Leu1529Ile) c.4354T>A (p.Leu1452Ile) | |
10 | g.94304490T>C | CA470808455 | PLCE1 | c.4543T>C (p.Leu1515=) c.*2010T>C (n.*2010T>C) n.2202T>C n.886T>C c.*751T>C (n.*751T>C) c.4495T>C (p.Leu1499=) n.9675T>C n.3140T>C c.5335T>C (p.Leu1779=) c.5419T>C (p.Leu1807=) c.5467T>C (p.Leu1823=) c.4441T>C (p.Leu1481=) c.4022T>C c.3583T>C (p.Leu1195=) c.*1400T>C (n.*1400T>C) c.4736T>C c.5509T>C (p.Leu1837=) c.5506T>C (p.Leu1836=) c.5461T>C (p.Leu1821=) c.4585T>C (p.Leu1529=) c.4354T>C (p.Leu1452=) | |
10 | g.94304490T>G | CA377642708 | PLCE1 | c.4543T>G (p.Leu1515Val) c.*2010T>G (n.*2010T>G) n.2202T>G n.886T>G c.*751T>G (n.*751T>G) c.4495T>G (p.Leu1499Val) n.9675T>G n.3140T>G c.5335T>G (p.Leu1779Val) c.5419T>G (p.Leu1807Val) c.5467T>G (p.Leu1823Val) c.4441T>G (p.Leu1481Val) c.4022T>G c.3583T>G (p.Leu1195Val) c.*1400T>G (n.*1400T>G) c.4736T>G c.5509T>G (p.Leu1837Val) c.5506T>G (p.Leu1836Val) c.5461T>G (p.Leu1821Val) c.4585T>G (p.Leu1529Val) c.4354T>G (p.Leu1452Val) | |
10 | g.94304491T>A | CA377642709 | PLCE1 | c.4544T>A (p.Leu1515Ter) c.*2011T>A (n.*2011T>A) n.2203T>A n.887T>A c.*752T>A (n.*752T>A) c.4496T>A (p.Leu1499Ter) n.9676T>A n.3141T>A c.5336T>A (p.Leu1779Ter) c.5420T>A (p.Leu1807Ter) c.5468T>A (p.Leu1823Ter) c.4442T>A (p.Leu1481Ter) c.4023T>A c.3584T>A (p.Leu1195Ter) c.*1401T>A (n.*1401T>A) c.4737T>A c.5510T>A (p.Leu1837Ter) c.5507T>A (p.Leu1836Ter) c.5462T>A (p.Leu1821Ter) c.4586T>A (p.Leu1529Ter) c.4355T>A (p.Leu1452Ter) | |
10 | g.94304491T>C | CA377642710 | PLCE1 | c.4544T>C (p.Leu1515Ser) c.*2011T>C (n.*2011T>C) n.2203T>C n.887T>C c.*752T>C (n.*752T>C) c.4496T>C (p.Leu1499Ser) n.9676T>C n.3141T>C c.5336T>C (p.Leu1779Ser) c.5420T>C (p.Leu1807Ser) c.5468T>C (p.Leu1823Ser) c.4442T>C (p.Leu1481Ser) c.4023T>C c.3584T>C (p.Leu1195Ser) c.*1401T>C (n.*1401T>C) c.4737T>C c.5510T>C (p.Leu1837Ser) c.5507T>C (p.Leu1836Ser) c.5462T>C (p.Leu1821Ser) c.4586T>C (p.Leu1529Ser) c.4355T>C (p.Leu1452Ser) | |
10 | g.94304491T>G | CA377642711 | PLCE1 | c.4544T>G (p.Leu1515Ter) c.*2011T>G (n.*2011T>G) n.2203T>G n.887T>G c.*752T>G (n.*752T>G) c.4496T>G (p.Leu1499Ter) n.9676T>G n.3141T>G c.5336T>G (p.Leu1779Ter) c.5420T>G (p.Leu1807Ter) c.5468T>G (p.Leu1823Ter) c.4442T>G (p.Leu1481Ter) c.4023T>G c.3584T>G (p.Leu1195Ter) c.*1401T>G (n.*1401T>G) c.4737T>G c.5510T>G (p.Leu1837Ter) c.5507T>G (p.Leu1836Ter) c.5462T>G (p.Leu1821Ter) c.4586T>G (p.Leu1529Ter) c.4355T>G (p.Leu1452Ter) | |
10 | g.94304492A>C | CA377642712 | PLCE1 | c.4545A>C (p.Leu1515Phe) c.*2012A>C (n.*2012A>C) n.2204A>C n.888A>C c.*753A>C (n.*753A>C) c.4497A>C (p.Leu1499Phe) n.9677A>C n.3142A>C c.5337A>C (p.Leu1779Phe) c.5421A>C (p.Leu1807Phe) c.5469A>C (p.Leu1823Phe) c.4443A>C (p.Leu1481Phe) c.4024A>C c.3585A>C (p.Leu1195Phe) c.*1402A>C (n.*1402A>C) c.4738A>C c.5511A>C (p.Leu1837Phe) c.5508A>C (p.Leu1836Phe) c.5463A>C (p.Leu1821Phe) c.4587A>C (p.Leu1529Phe) c.4356A>C (p.Leu1452Phe) | |
10 | g.94304492A>G | CA470808457 | PLCE1 | c.4545A>G (p.Leu1515=) c.*2012A>G (n.*2012A>G) n.2204A>G n.888A>G c.*753A>G (n.*753A>G) c.4497A>G (p.Leu1499=) n.9677A>G n.3142A>G c.5337A>G (p.Leu1779=) c.5421A>G (p.Leu1807=) c.5469A>G (p.Leu1823=) c.4443A>G (p.Leu1481=) c.4024A>G c.3585A>G (p.Leu1195=) c.*1402A>G (n.*1402A>G) c.4738A>G c.5511A>G (p.Leu1837=) c.5508A>G (p.Leu1836=) c.5463A>G (p.Leu1821=) c.4587A>G (p.Leu1529=) c.4356A>G (p.Leu1452=) | |
10 | g.94304492A>T | CA377642713 | PLCE1 | c.4545A>T (p.Leu1515Phe) c.*2012A>T (n.*2012A>T) n.2204A>T n.888A>T c.*753A>T (n.*753A>T) c.4497A>T (p.Leu1499Phe) n.9677A>T n.3142A>T c.5337A>T (p.Leu1779Phe) c.5421A>T (p.Leu1807Phe) c.5469A>T (p.Leu1823Phe) c.4443A>T (p.Leu1481Phe) c.4024A>T c.3585A>T (p.Leu1195Phe) c.*1402A>T (n.*1402A>T) c.4738A>T c.5511A>T (p.Leu1837Phe) c.5508A>T (p.Leu1836Phe) c.5463A>T (p.Leu1821Phe) c.4587A>T (p.Leu1529Phe) c.4356A>T (p.Leu1452Phe) | |
10 | g.94304493C>A | CA377642714 | PLCE1 | c.4546C>A (p.His1516Asn) c.*2013C>A (n.*2013C>A) n.2205C>A n.889C>A c.*754C>A (n.*754C>A) c.4498C>A (p.His1500Asn) n.9678C>A n.3143C>A c.5338C>A (p.His1780Asn) c.5422C>A (p.His1808Asn) c.5470C>A (p.His1824Asn) c.4444C>A (p.His1482Asn) c.4025C>A c.3586C>A (p.His1196Asn) c.*1403C>A (n.*1403C>A) c.4739C>A c.5512C>A (p.His1838Asn) c.5509C>A (p.His1837Asn) c.5464C>A (p.His1822Asn) c.4588C>A (p.His1530Asn) c.4357C>A (p.His1453Asn) | |
10 | g.94304493C= | CA1929000761 | PLCE1 | c.4546C= (p.His1516=) c.*2013C= (n.*2013C=) n.2205C= n.889C= c.*754C= (n.*754C=) c.4498C= (p.His1500=) n.9678C= n.3143C= c.5338C= (p.His1780=) c.5422C= (p.His1808=) c.5470C= (p.His1824=) c.4444C= (p.His1482=) c.4025C= c.3586C= (p.His1196=) c.*1403C= (n.*1403C=) c.4739C= c.5512C= (p.His1838=) c.5509C= (p.His1837=) c.5464C= (p.His1822=) c.4588C= (p.His1530=) c.4357C= (p.His1453=) | |
10 | g.94304493C>G | CA377642715 | PLCE1 | c.4546C>G (p.His1516Asp) c.*2013C>G (n.*2013C>G) n.2205C>G n.889C>G c.*754C>G (n.*754C>G) c.4498C>G (p.His1500Asp) n.9678C>G n.3143C>G c.5338C>G (p.His1780Asp) c.5422C>G (p.His1808Asp) c.5470C>G (p.His1824Asp) c.4444C>G (p.His1482Asp) c.4025C>G c.3586C>G (p.His1196Asp) c.*1403C>G (n.*1403C>G) c.4739C>G c.5512C>G (p.His1838Asp) c.5509C>G (p.His1837Asp) c.5464C>G (p.His1822Asp) c.4588C>G (p.His1530Asp) c.4357C>G (p.His1453Asp) | |
10 | g.94304493C>T | CA377642716 | PLCE1 | c.4546C>T (p.His1516Tyr) c.*2013C>T (n.*2013C>T) n.2205C>T n.889C>T c.*754C>T (n.*754C>T) c.4498C>T (p.His1500Tyr) n.9678C>T n.3143C>T c.5338C>T (p.His1780Tyr) c.5422C>T (p.His1808Tyr) c.5470C>T (p.His1824Tyr) c.4444C>T (p.His1482Tyr) c.4025C>T c.3586C>T (p.His1196Tyr) c.*1403C>T (n.*1403C>T) c.4739C>T c.5512C>T (p.His1838Tyr) c.5509C>T (p.His1837Tyr) c.5464C>T (p.His1822Tyr) c.4588C>T (p.His1530Tyr) c.4357C>T (p.His1453Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.94304494A>C | CA377642717 | PLCE1 | c.4547A>C (p.His1516Pro) c.*2014A>C (n.*2014A>C) n.2206A>C n.890A>C c.*755A>C (n.*755A>C) c.4499A>C (p.His1500Pro) n.9679A>C n.3144A>C c.5339A>C (p.His1780Pro) c.5423A>C (p.His1808Pro) c.5471A>C (p.His1824Pro) c.4445A>C (p.His1482Pro) c.4026A>C c.3587A>C (p.His1196Pro) c.*1404A>C (n.*1404A>C) c.4740A>C c.5513A>C (p.His1838Pro) c.5510A>C (p.His1837Pro) c.5465A>C (p.His1822Pro) c.4589A>C (p.His1530Pro) c.4358A>C (p.His1453Pro) | |
10 | g.94304494A>G | CA377642718 | PLCE1 | c.4547A>G (p.His1516Arg) c.*2014A>G (n.*2014A>G) n.2206A>G n.890A>G c.*755A>G (n.*755A>G) c.4499A>G (p.His1500Arg) n.9679A>G n.3144A>G c.5339A>G (p.His1780Arg) c.5423A>G (p.His1808Arg) c.5471A>G (p.His1824Arg) c.4445A>G (p.His1482Arg) c.4026A>G c.3587A>G (p.His1196Arg) c.*1404A>G (n.*1404A>G) c.4740A>G c.5513A>G (p.His1838Arg) c.5510A>G (p.His1837Arg) c.5465A>G (p.His1822Arg) c.4589A>G (p.His1530Arg) c.4358A>G (p.His1453Arg) | |
10 | g.94304494A>T | CA377642719 | PLCE1 | c.4547A>T (p.His1516Leu) c.*2014A>T (n.*2014A>T) n.2206A>T n.890A>T c.*755A>T (n.*755A>T) c.4499A>T (p.His1500Leu) n.9679A>T n.3144A>T c.5339A>T (p.His1780Leu) c.5423A>T (p.His1808Leu) c.5471A>T (p.His1824Leu) c.4445A>T (p.His1482Leu) c.4026A>T c.3587A>T (p.His1196Leu) c.*1404A>T (n.*1404A>T) c.4740A>T c.5513A>T (p.His1838Leu) c.5510A>T (p.His1837Leu) c.5465A>T (p.His1822Leu) c.4589A>T (p.His1530Leu) c.4358A>T (p.His1453Leu) | |
10 | g.94304495T>A | CA377642720 | PLCE1 | c.4548T>A (p.His1516Gln) c.*2015T>A (n.*2015T>A) n.2207T>A n.891T>A c.*756T>A (n.*756T>A) c.4500T>A (p.His1500Gln) n.9680T>A n.3145T>A c.5340T>A (p.His1780Gln) c.5424T>A (p.His1808Gln) c.5472T>A (p.His1824Gln) c.4446T>A (p.His1482Gln) c.4027T>A c.3588T>A (p.His1196Gln) c.*1405T>A (n.*1405T>A) c.4741T>A c.5514T>A (p.His1838Gln) c.5511T>A (p.His1837Gln) c.5466T>A (p.His1822Gln) c.4590T>A (p.His1530Gln) c.4359T>A (p.His1453Gln) | |
10 | g.94304495T>C | CA470808461 | PLCE1 | c.4548T>C (p.His1516=) c.*2015T>C (n.*2015T>C) n.2207T>C n.891T>C c.*756T>C (n.*756T>C) c.4500T>C (p.His1500=) n.9680T>C n.3145T>C c.5340T>C (p.His1780=) c.5424T>C (p.His1808=) c.5472T>C (p.His1824=) c.4446T>C (p.His1482=) c.4027T>C c.3588T>C (p.His1196=) c.*1405T>C (n.*1405T>C) c.4741T>C c.5514T>C (p.His1838=) c.5511T>C (p.His1837=) c.5466T>C (p.His1822=) c.4590T>C (p.His1530=) c.4359T>C (p.His1453=) | |
10 | g.94304495T>G | CA377642721 | PLCE1 | c.4548T>G (p.His1516Gln) c.*2015T>G (n.*2015T>G) n.2207T>G n.891T>G c.*756T>G (n.*756T>G) c.4500T>G (p.His1500Gln) n.9680T>G n.3145T>G c.5340T>G (p.His1780Gln) c.5424T>G (p.His1808Gln) c.5472T>G (p.His1824Gln) c.4446T>G (p.His1482Gln) c.4027T>G c.3588T>G (p.His1196Gln) c.*1405T>G (n.*1405T>G) c.4741T>G c.5514T>G (p.His1838Gln) c.5511T>G (p.His1837Gln) c.5466T>G (p.His1822Gln) c.4590T>G (p.His1530Gln) c.4359T>G (p.His1453Gln) | |
10 | g.94304497dup | CA2610239868 | PLCE1 | c.4550dup (p.Leu1517PhefsTer7) c.*2017dup (n.*2017dup) n.2209dup n.893dup c.*758dup (n.*758dup) c.4502dup (p.Leu1501PhefsTer7) n.9682dup n.3147dup c.5342dup (p.Leu1781PhefsTer7) c.5426dup (p.Leu1809PhefsTer7) c.5474dup (p.Leu1825PhefsTer7) c.4448dup (p.Leu1483PhefsTer7) c.4029dup c.3590dup (p.Leu1197PhefsTer7) c.*1407dup (n.*1407dup) c.4743dup c.5516dup (p.Leu1839PhefsTer7) c.5513dup (p.Leu1838PhefsTer7) c.5468dup (p.Leu1823PhefsTer7) c.4592dup (p.Leu1531PhefsTer7) c.4361dup (p.Leu1454PhefsTer7) | gnomAD v4 |
10 | g.94304496T>A | CA377642723 | PLCE1 | c.4549T>A (p.Leu1517Ile) c.*2016T>A (n.*2016T>A) n.2208T>A n.892T>A c.*757T>A (n.*757T>A) c.4501T>A (p.Leu1501Ile) n.9681T>A n.3146T>A c.5341T>A (p.Leu1781Ile) c.5425T>A (p.Leu1809Ile) c.5473T>A (p.Leu1825Ile) c.4447T>A (p.Leu1483Ile) c.4028T>A c.3589T>A (p.Leu1197Ile) c.*1406T>A (n.*1406T>A) c.4742T>A c.5515T>A (p.Leu1839Ile) c.5512T>A (p.Leu1838Ile) c.5467T>A (p.Leu1823Ile) c.4591T>A (p.Leu1531Ile) c.4360T>A (p.Leu1454Ile) | |
10 | g.94304496T>C | CA470808463 | PLCE1 | c.4549T>C (p.Leu1517=) c.*2016T>C (n.*2016T>C) n.2208T>C n.892T>C c.*757T>C (n.*757T>C) c.4501T>C (p.Leu1501=) n.9681T>C n.3146T>C c.5341T>C (p.Leu1781=) c.5425T>C (p.Leu1809=) c.5473T>C (p.Leu1825=) c.4447T>C (p.Leu1483=) c.4028T>C c.3589T>C (p.Leu1197=) c.*1406T>C (n.*1406T>C) c.4742T>C c.5515T>C (p.Leu1839=) c.5512T>C (p.Leu1838=) c.5467T>C (p.Leu1823=) c.4591T>C (p.Leu1531=) c.4360T>C (p.Leu1454=) | |
10 | g.94304496T>G | CA377642722 | PLCE1 | c.4549T>G (p.Leu1517Val) c.*2016T>G (n.*2016T>G) n.2208T>G n.892T>G c.*757T>G (n.*757T>G) c.4501T>G (p.Leu1501Val) n.9681T>G n.3146T>G c.5341T>G (p.Leu1781Val) c.5425T>G (p.Leu1809Val) c.5473T>G (p.Leu1825Val) c.4447T>G (p.Leu1483Val) c.4028T>G c.3589T>G (p.Leu1197Val) c.*1406T>G (n.*1406T>G) c.4742T>G c.5515T>G (p.Leu1839Val) c.5512T>G (p.Leu1838Val) c.5467T>G (p.Leu1823Val) c.4591T>G (p.Leu1531Val) c.4360T>G (p.Leu1454Val) | |
10 | g.94304497T>A | CA377642724 | PLCE1 | c.4550T>A (p.Leu1517Ter) c.*2017T>A (n.*2017T>A) n.2209T>A n.893T>A c.*758T>A (n.*758T>A) c.4502T>A (p.Leu1501Ter) n.9682T>A n.3147T>A c.5342T>A (p.Leu1781Ter) c.5426T>A (p.Leu1809Ter) c.5474T>A (p.Leu1825Ter) c.4448T>A (p.Leu1483Ter) c.4029T>A c.3590T>A (p.Leu1197Ter) c.*1407T>A (n.*1407T>A) c.4743T>A c.5516T>A (p.Leu1839Ter) c.5513T>A (p.Leu1838Ter) c.5468T>A (p.Leu1823Ter) c.4592T>A (p.Leu1531Ter) c.4361T>A (p.Leu1454Ter) | |
10 | g.94304497T>C | CA377642725 | PLCE1 | c.4550T>C (p.Leu1517Ser) c.*2017T>C (n.*2017T>C) n.2209T>C n.893T>C c.*758T>C (n.*758T>C) c.4502T>C (p.Leu1501Ser) n.9682T>C n.3147T>C c.5342T>C (p.Leu1781Ser) c.5426T>C (p.Leu1809Ser) c.5474T>C (p.Leu1825Ser) c.4448T>C (p.Leu1483Ser) c.4029T>C c.3590T>C (p.Leu1197Ser) c.*1407T>C (n.*1407T>C) c.4743T>C c.5516T>C (p.Leu1839Ser) c.5513T>C (p.Leu1838Ser) c.5468T>C (p.Leu1823Ser) c.4592T>C (p.Leu1531Ser) c.4361T>C (p.Leu1454Ser) | |
10 | g.94304497T>G | CA377642726 | PLCE1 | c.4550T>G (p.Leu1517Ter) c.*2017T>G (n.*2017T>G) n.2209T>G n.893T>G c.*758T>G (n.*758T>G) c.4502T>G (p.Leu1501Ter) n.9682T>G n.3147T>G c.5342T>G (p.Leu1781Ter) c.5426T>G (p.Leu1809Ter) c.5474T>G (p.Leu1825Ter) c.4448T>G (p.Leu1483Ter) c.4029T>G c.3590T>G (p.Leu1197Ter) c.*1407T>G (n.*1407T>G) c.4743T>G c.5516T>G (p.Leu1839Ter) c.5513T>G (p.Leu1838Ter) c.5468T>G (p.Leu1823Ter) c.4592T>G (p.Leu1531Ter) c.4361T>G (p.Leu1454Ter) | |
10 | g.94304498A>C | CA377642727 | PLCE1 | c.4551A>C (p.Leu1517Phe) c.*2018A>C (n.*2018A>C) n.2210A>C n.894A>C c.*759A>C (n.*759A>C) c.4503A>C (p.Leu1501Phe) n.9683A>C n.3148A>C c.5343A>C (p.Leu1781Phe) c.5427A>C (p.Leu1809Phe) c.5475A>C (p.Leu1825Phe) c.4449A>C (p.Leu1483Phe) c.4030A>C c.3591A>C (p.Leu1197Phe) c.*1408A>C (n.*1408A>C) c.4744A>C c.5517A>C (p.Leu1839Phe) c.5514A>C (p.Leu1838Phe) c.5469A>C (p.Leu1823Phe) c.4593A>C (p.Leu1531Phe) c.4362A>C (p.Leu1454Phe) | |
10 | g.94304498A>G | CA470808464 | PLCE1 | c.4551A>G (p.Leu1517=) c.*2018A>G (n.*2018A>G) n.2210A>G n.894A>G c.*759A>G (n.*759A>G) c.4503A>G (p.Leu1501=) n.9683A>G n.3148A>G c.5343A>G (p.Leu1781=) c.5427A>G (p.Leu1809=) c.5475A>G (p.Leu1825=) c.4449A>G (p.Leu1483=) c.4030A>G c.3591A>G (p.Leu1197=) c.*1408A>G (n.*1408A>G) c.4744A>G c.5517A>G (p.Leu1839=) c.5514A>G (p.Leu1838=) c.5469A>G (p.Leu1823=) c.4593A>G (p.Leu1531=) c.4362A>G (p.Leu1454=) | |
10 | g.94304498A>T | CA377642728 | PLCE1 | c.4551A>T (p.Leu1517Phe) c.*2018A>T (n.*2018A>T) n.2210A>T n.894A>T c.*759A>T (n.*759A>T) c.4503A>T (p.Leu1501Phe) n.9683A>T n.3148A>T c.5343A>T (p.Leu1781Phe) c.5427A>T (p.Leu1809Phe) c.5475A>T (p.Leu1825Phe) c.4449A>T (p.Leu1483Phe) c.4030A>T c.3591A>T (p.Leu1197Phe) c.*1408A>T (n.*1408A>T) c.4744A>T c.5517A>T (p.Leu1839Phe) c.5514A>T (p.Leu1838Phe) c.5469A>T (p.Leu1823Phe) c.4593A>T (p.Leu1531Phe) c.4362A>T (p.Leu1454Phe) | |
10 | g.94304499A>C | CA377642729 | PLCE1 | c.4552A>C (p.Asn1518His) c.*2019A>C (n.*2019A>C) n.2211A>C n.895A>C c.*760A>C (n.*760A>C) c.4504A>C (p.Asn1502His) n.9684A>C n.3149A>C c.5344A>C (p.Asn1782His) c.5428A>C (p.Asn1810His) c.5476A>C (p.Asn1826His) c.4450A>C (p.Asn1484His) c.4031A>C c.3592A>C (p.Asn1198His) c.*1409A>C (n.*1409A>C) c.4745A>C c.5518A>C (p.Asn1840His) c.5515A>C (p.Asn1839His) c.5470A>C (p.Asn1824His) c.4594A>C (p.Asn1532His) c.4363A>C (p.Asn1455His) | |
10 | g.94304499A>G | CA377642730 | PLCE1 | c.4552A>G (p.Asn1518Asp) c.*2019A>G (n.*2019A>G) n.2211A>G n.895A>G c.*760A>G (n.*760A>G) c.4504A>G (p.Asn1502Asp) n.9684A>G n.3149A>G c.5344A>G (p.Asn1782Asp) c.5428A>G (p.Asn1810Asp) c.5476A>G (p.Asn1826Asp) c.4450A>G (p.Asn1484Asp) c.4031A>G c.3592A>G (p.Asn1198Asp) c.*1409A>G (n.*1409A>G) c.4745A>G c.5518A>G (p.Asn1840Asp) c.5515A>G (p.Asn1839Asp) c.5470A>G (p.Asn1824Asp) c.4594A>G (p.Asn1532Asp) c.4363A>G (p.Asn1455Asp) | |
10 | g.94304499A>T | CA377642731 | PLCE1 | c.4552A>T (p.Asn1518Tyr) c.*2019A>T (n.*2019A>T) n.2211A>T n.895A>T c.*760A>T (n.*760A>T) c.4504A>T (p.Asn1502Tyr) n.9684A>T n.3149A>T c.5344A>T (p.Asn1782Tyr) c.5428A>T (p.Asn1810Tyr) c.5476A>T (p.Asn1826Tyr) c.4450A>T (p.Asn1484Tyr) c.4031A>T c.3592A>T (p.Asn1198Tyr) c.*1409A>T (n.*1409A>T) c.4745A>T c.5518A>T (p.Asn1840Tyr) c.5515A>T (p.Asn1839Tyr) c.5470A>T (p.Asn1824Tyr) c.4594A>T (p.Asn1532Tyr) c.4363A>T (p.Asn1455Tyr) | |
10 | g.94304500A>C | CA377642732 | PLCE1 | c.4553A>C (p.Asn1518Thr) c.*2020A>C (n.*2020A>C) n.2212A>C n.896A>C c.*761A>C (n.*761A>C) c.4505A>C (p.Asn1502Thr) n.9685A>C n.3150A>C c.5345A>C (p.Asn1782Thr) c.5429A>C (p.Asn1810Thr) c.5477A>C (p.Asn1826Thr) c.4451A>C (p.Asn1484Thr) c.4032A>C c.3593A>C (p.Asn1198Thr) c.*1410A>C (n.*1410A>C) c.4746A>C c.5519A>C (p.Asn1840Thr) c.5516A>C (p.Asn1839Thr) c.5471A>C (p.Asn1824Thr) c.4595A>C (p.Asn1532Thr) c.4364A>C (p.Asn1455Thr) | |
10 | g.94304500A>G | CA377642733 | PLCE1 | c.4553A>G (p.Asn1518Ser) c.*2020A>G (n.*2020A>G) n.2212A>G n.896A>G c.*761A>G (n.*761A>G) c.4505A>G (p.Asn1502Ser) n.9685A>G n.3150A>G c.5345A>G (p.Asn1782Ser) c.5429A>G (p.Asn1810Ser) c.5477A>G (p.Asn1826Ser) c.4451A>G (p.Asn1484Ser) c.4032A>G c.3593A>G (p.Asn1198Ser) c.*1410A>G (n.*1410A>G) c.4746A>G c.5519A>G (p.Asn1840Ser) c.5516A>G (p.Asn1839Ser) c.5471A>G (p.Asn1824Ser) c.4595A>G (p.Asn1532Ser) c.4364A>G (p.Asn1455Ser) | gnomAD v4 |
10 | g.94304500A>T | CA377642734 | PLCE1 | c.4553A>T (p.Asn1518Ile) c.*2020A>T (n.*2020A>T) n.2212A>T n.896A>T c.*761A>T (n.*761A>T) c.4505A>T (p.Asn1502Ile) n.9685A>T n.3150A>T c.5345A>T (p.Asn1782Ile) c.5429A>T (p.Asn1810Ile) c.5477A>T (p.Asn1826Ile) c.4451A>T (p.Asn1484Ile) c.4032A>T c.3593A>T (p.Asn1198Ile) c.*1410A>T (n.*1410A>T) c.4746A>T c.5519A>T (p.Asn1840Ile) c.5516A>T (p.Asn1839Ile) c.5471A>T (p.Asn1824Ile) c.4595A>T (p.Asn1532Ile) c.4364A>T (p.Asn1455Ile) | |
10 | g.94304501T>A | CA377642735 | PLCE1 | c.4554T>A (p.Asn1518Lys) c.*2021T>A (n.*2021T>A) n.2213T>A n.897T>A c.*762T>A (n.*762T>A) c.4506T>A (p.Asn1502Lys) n.9686T>A n.3151T>A c.5346T>A (p.Asn1782Lys) c.5430T>A (p.Asn1810Lys) c.5478T>A (p.Asn1826Lys) c.4452T>A (p.Asn1484Lys) c.4033T>A c.3594T>A (p.Asn1198Lys) c.*1411T>A (n.*1411T>A) c.4747T>A c.5520T>A (p.Asn1840Lys) c.5517T>A (p.Asn1839Lys) c.5472T>A (p.Asn1824Lys) c.4596T>A (p.Asn1532Lys) c.4365T>A (p.Asn1455Lys) | |
10 | g.94304501T>C | CA470808468 | PLCE1 | c.4554T>C (p.Asn1518=) c.*2021T>C (n.*2021T>C) n.2213T>C n.897T>C c.*762T>C (n.*762T>C) c.4506T>C (p.Asn1502=) n.9686T>C n.3151T>C c.5346T>C (p.Asn1782=) c.5430T>C (p.Asn1810=) c.5478T>C (p.Asn1826=) c.4452T>C (p.Asn1484=) c.4033T>C c.3594T>C (p.Asn1198=) c.*1411T>C (n.*1411T>C) c.4747T>C c.5520T>C (p.Asn1840=) c.5517T>C (p.Asn1839=) c.5472T>C (p.Asn1824=) c.4596T>C (p.Asn1532=) c.4365T>C (p.Asn1455=) | |
10 | g.94304501T>G | CA377642736 | PLCE1 | c.4554T>G (p.Asn1518Lys) c.*2021T>G (n.*2021T>G) n.2213T>G n.897T>G c.*762T>G (n.*762T>G) c.4506T>G (p.Asn1502Lys) n.9686T>G n.3151T>G c.5346T>G (p.Asn1782Lys) c.5430T>G (p.Asn1810Lys) c.5478T>G (p.Asn1826Lys) c.4452T>G (p.Asn1484Lys) c.4033T>G c.3594T>G (p.Asn1198Lys) c.*1411T>G (n.*1411T>G) c.4747T>G c.5520T>G (p.Asn1840Lys) c.5517T>G (p.Asn1839Lys) c.5472T>G (p.Asn1824Lys) c.4596T>G (p.Asn1532Lys) c.4365T>G (p.Asn1455Lys) | |
10 | g.94304502G>A | CA377642739 | PLCE1 | c.4555G>A (p.Ala1519Thr) c.*2022G>A (n.*2022G>A) n.2214G>A n.898G>A c.*763G>A (n.*763G>A) c.4507G>A (p.Ala1503Thr) n.9687G>A n.3152G>A c.5347G>A (p.Ala1783Thr) c.5431G>A (p.Ala1811Thr) c.5479G>A (p.Ala1827Thr) c.4453G>A (p.Ala1485Thr) c.4034G>A c.3595G>A (p.Ala1199Thr) c.*1412G>A (n.*1412G>A) c.4748G>A c.5521G>A (p.Ala1841Thr) c.5518G>A (p.Ala1840Thr) c.5473G>A (p.Ala1825Thr) c.4597G>A (p.Ala1533Thr) c.4366G>A (p.Ala1456Thr) | |
10 | g.94304502G>C | CA377642738 | PLCE1 | c.4555G>C (p.Ala1519Pro) c.*2022G>C (n.*2022G>C) n.2214G>C n.898G>C c.*763G>C (n.*763G>C) c.4507G>C (p.Ala1503Pro) n.9687G>C n.3152G>C c.5347G>C (p.Ala1783Pro) c.5431G>C (p.Ala1811Pro) c.5479G>C (p.Ala1827Pro) c.4453G>C (p.Ala1485Pro) c.4034G>C c.3595G>C (p.Ala1199Pro) c.*1412G>C (n.*1412G>C) c.4748G>C c.5521G>C (p.Ala1841Pro) c.5518G>C (p.Ala1840Pro) c.5473G>C (p.Ala1825Pro) c.4597G>C (p.Ala1533Pro) c.4366G>C (p.Ala1456Pro) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94304502G= | CA1929000762 | PLCE1 | c.4555G= (p.Ala1519=) c.*2022G= (n.*2022G=) n.2214G= n.898G= c.*763G= (n.*763G=) c.4507G= (p.Ala1503=) n.9687G= n.3152G= c.5347G= (p.Ala1783=) c.5431G= (p.Ala1811=) c.5479G= (p.Ala1827=) c.4453G= (p.Ala1485=) c.4034G= c.3595G= (p.Ala1199=) c.*1412G= (n.*1412G=) c.4748G= c.5521G= (p.Ala1841=) c.5518G= (p.Ala1840=) c.5473G= (p.Ala1825=) c.4597G= (p.Ala1533=) c.4366G= (p.Ala1456=) | |
10 | g.94304502G>T | CA377642737 | PLCE1 | c.4555G>T (p.Ala1519Ser) c.*2022G>T (n.*2022G>T) n.2214G>T n.898G>T c.*763G>T (n.*763G>T) c.4507G>T (p.Ala1503Ser) n.9687G>T n.3152G>T c.5347G>T (p.Ala1783Ser) c.5431G>T (p.Ala1811Ser) c.5479G>T (p.Ala1827Ser) c.4453G>T (p.Ala1485Ser) c.4034G>T c.3595G>T (p.Ala1199Ser) c.*1412G>T (n.*1412G>T) c.4748G>T c.5521G>T (p.Ala1841Ser) c.5518G>T (p.Ala1840Ser) c.5473G>T (p.Ala1825Ser) c.4597G>T (p.Ala1533Ser) c.4366G>T (p.Ala1456Ser) | |
10 | g.94304503C>A | CA377642741 | PLCE1 | c.4556C>A (p.Ala1519Asp) c.*2023C>A (n.*2023C>A) n.2215C>A n.899C>A c.*764C>A (n.*764C>A) c.4508C>A (p.Ala1503Asp) n.9688C>A n.3153C>A c.5348C>A (p.Ala1783Asp) c.5432C>A (p.Ala1811Asp) c.5480C>A (p.Ala1827Asp) c.4454C>A (p.Ala1485Asp) c.4035C>A c.3596C>A (p.Ala1199Asp) c.*1413C>A (n.*1413C>A) c.4749C>A c.5522C>A (p.Ala1841Asp) c.5519C>A (p.Ala1840Asp) c.5474C>A (p.Ala1825Asp) c.4598C>A (p.Ala1533Asp) c.4367C>A (p.Ala1456Asp) | |
10 | g.94304503C= | CA1929000763 | PLCE1 | c.4556C= (p.Ala1519=) c.*2023C= (n.*2023C=) n.2215C= n.899C= c.*764C= (n.*764C=) c.4508C= (p.Ala1503=) n.9688C= n.3153C= c.5348C= (p.Ala1783=) c.5432C= (p.Ala1811=) c.5480C= (p.Ala1827=) c.4454C= (p.Ala1485=) c.4035C= c.3596C= (p.Ala1199=) c.*1413C= (n.*1413C=) c.4749C= c.5522C= (p.Ala1841=) c.5519C= (p.Ala1840=) c.5474C= (p.Ala1825=) c.4598C= (p.Ala1533=) c.4367C= (p.Ala1456=) | |
10 | g.94304503C>G | CA377642740 | PLCE1 | c.4556C>G (p.Ala1519Gly) c.*2023C>G (n.*2023C>G) n.2215C>G n.899C>G c.*764C>G (n.*764C>G) c.4508C>G (p.Ala1503Gly) n.9688C>G n.3153C>G c.5348C>G (p.Ala1783Gly) c.5432C>G (p.Ala1811Gly) c.5480C>G (p.Ala1827Gly) c.4454C>G (p.Ala1485Gly) c.4035C>G c.3596C>G (p.Ala1199Gly) c.*1413C>G (n.*1413C>G) c.4749C>G c.5522C>G (p.Ala1841Gly) c.5519C>G (p.Ala1840Gly) c.5474C>G (p.Ala1825Gly) c.4598C>G (p.Ala1533Gly) c.4367C>G (p.Ala1456Gly) | |
10 | g.94304503C>T | CA377642742 | PLCE1 | c.4556C>T (p.Ala1519Val) c.*2023C>T (n.*2023C>T) n.2215C>T n.899C>T c.*764C>T (n.*764C>T) c.4508C>T (p.Ala1503Val) n.9688C>T n.3153C>T c.5348C>T (p.Ala1783Val) c.5432C>T (p.Ala1811Val) c.5480C>T (p.Ala1827Val) c.4454C>T (p.Ala1485Val) c.4035C>T c.3596C>T (p.Ala1199Val) c.*1413C>T (n.*1413C>T) c.4749C>T c.5522C>T (p.Ala1841Val) c.5519C>T (p.Ala1840Val) c.5474C>T (p.Ala1825Val) c.4598C>T (p.Ala1533Val) c.4367C>T (p.Ala1456Val) | dbSNP gnomAD v4 |
10 | g.94304504T>A | CA470808471 | PLCE1 | c.4557T>A (p.Ala1519=) c.*2024T>A (n.*2024T>A) n.2216T>A n.900T>A c.*765T>A (n.*765T>A) c.4509T>A (p.Ala1503=) n.9689T>A n.3154T>A c.5349T>A (p.Ala1783=) c.5433T>A (p.Ala1811=) c.5481T>A (p.Ala1827=) c.4455T>A (p.Ala1485=) c.4036T>A c.3597T>A (p.Ala1199=) c.*1414T>A (n.*1414T>A) c.4750T>A c.5523T>A (p.Ala1841=) c.5520T>A (p.Ala1840=) c.5475T>A (p.Ala1825=) c.4599T>A (p.Ala1533=) c.4368T>A (p.Ala1456=) | |
10 | g.94304504T>C | CA5613374 | PLCE1 | c.4557T>C (p.Ala1519=) c.*2024T>C (n.*2024T>C) n.2216T>C n.900T>C c.*765T>C (n.*765T>C) c.4509T>C (p.Ala1503=) n.9689T>C n.3154T>C c.5349T>C (p.Ala1783=) c.5433T>C (p.Ala1811=) c.5481T>C (p.Ala1827=) c.4455T>C (p.Ala1485=) c.4036T>C c.3597T>C (p.Ala1199=) c.*1414T>C (n.*1414T>C) c.4750T>C c.5523T>C (p.Ala1841=) c.5520T>C (p.Ala1840=) c.5475T>C (p.Ala1825=) c.4599T>C (p.Ala1533=) c.4368T>C (p.Ala1456=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94304504T>G | CA470808476 | PLCE1 | c.4557T>G (p.Ala1519=) c.*2024T>G (n.*2024T>G) n.2216T>G n.900T>G c.*765T>G (n.*765T>G) c.4509T>G (p.Ala1503=) n.9689T>G n.3154T>G c.5349T>G (p.Ala1783=) c.5433T>G (p.Ala1811=) c.5481T>G (p.Ala1827=) c.4455T>G (p.Ala1485=) c.4036T>G c.3597T>G (p.Ala1199=) c.*1414T>G (n.*1414T>G) c.4750T>G c.5523T>G (p.Ala1841=) c.5520T>G (p.Ala1840=) c.5475T>G (p.Ala1825=) c.4599T>G (p.Ala1533=) c.4368T>G (p.Ala1456=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94304504T= | CA1929000764 | PLCE1 | c.4557T= (p.Ala1519=) c.*2024T= (n.*2024T=) n.2216T= n.900T= c.*765T= (n.*765T=) c.4509T= (p.Ala1503=) n.9689T= n.3154T= c.5349T= (p.Ala1783=) c.5433T= (p.Ala1811=) c.5481T= (p.Ala1827=) c.4455T= (p.Ala1485=) c.4036T= c.3597T= (p.Ala1199=) c.*1414T= (n.*1414T=) c.4750T= c.5523T= (p.Ala1841=) c.5520T= (p.Ala1840=) c.5475T= (p.Ala1825=) c.4599T= (p.Ala1533=) c.4368T= (p.Ala1456=) | |
10 | g.94304505G>A | CA377642743 | PLCE1 | c.4558G>A (p.Ala1520Thr) c.*2025G>A (n.*2025G>A) n.2217G>A n.901G>A c.*766G>A (n.*766G>A) c.4510G>A (p.Ala1504Thr) n.9690G>A n.3155G>A c.5350G>A (p.Ala1784Thr) c.5434G>A (p.Ala1812Thr) c.5482G>A (p.Ala1828Thr) c.4456G>A (p.Ala1486Thr) c.4037G>A c.3598G>A (p.Ala1200Thr) c.*1415G>A (n.*1415G>A) c.4751G>A c.5524G>A (p.Ala1842Thr) c.5521G>A (p.Ala1841Thr) c.5476G>A (p.Ala1826Thr) c.4600G>A (p.Ala1534Thr) c.4369G>A (p.Ala1457Thr) | gnomAD v4 |
10 | g.94304505G>C | CA377642744 | PLCE1 | c.4558G>C (p.Ala1520Pro) c.*2025G>C (n.*2025G>C) n.2217G>C n.901G>C c.*766G>C (n.*766G>C) c.4510G>C (p.Ala1504Pro) n.9690G>C n.3155G>C c.5350G>C (p.Ala1784Pro) c.5434G>C (p.Ala1812Pro) c.5482G>C (p.Ala1828Pro) c.4456G>C (p.Ala1486Pro) c.4037G>C c.3598G>C (p.Ala1200Pro) c.*1415G>C (n.*1415G>C) c.4751G>C c.5524G>C (p.Ala1842Pro) c.5521G>C (p.Ala1841Pro) c.5476G>C (p.Ala1826Pro) c.4600G>C (p.Ala1534Pro) c.4369G>C (p.Ala1457Pro) | |
10 | g.94304505G>T | CA377642745 | PLCE1 | c.4558G>T (p.Ala1520Ser) c.*2025G>T (n.*2025G>T) n.2217G>T n.901G>T c.*766G>T (n.*766G>T) c.4510G>T (p.Ala1504Ser) n.9690G>T n.3155G>T c.5350G>T (p.Ala1784Ser) c.5434G>T (p.Ala1812Ser) c.5482G>T (p.Ala1828Ser) c.4456G>T (p.Ala1486Ser) c.4037G>T c.3598G>T (p.Ala1200Ser) c.*1415G>T (n.*1415G>T) c.4751G>T c.5524G>T (p.Ala1842Ser) c.5521G>T (p.Ala1841Ser) c.5476G>T (p.Ala1826Ser) c.4600G>T (p.Ala1534Ser) c.4369G>T (p.Ala1457Ser) | |
10 | g.94304506C>A | CA377642746 | PLCE1 | c.4559C>A (p.Ala1520Glu) c.*2026C>A (n.*2026C>A) n.2218C>A n.902C>A c.*767C>A (n.*767C>A) c.4511C>A (p.Ala1504Glu) n.9691C>A n.3156C>A c.5351C>A (p.Ala1784Glu) c.5435C>A (p.Ala1812Glu) c.5483C>A (p.Ala1828Glu) c.4457C>A (p.Ala1486Glu) c.4038C>A c.3599C>A (p.Ala1200Glu) c.*1416C>A (n.*1416C>A) c.4752C>A c.5525C>A (p.Ala1842Glu) c.5522C>A (p.Ala1841Glu) c.5477C>A (p.Ala1826Glu) c.4601C>A (p.Ala1534Glu) c.4370C>A (p.Ala1457Glu) | |
10 | g.94304506C>G | CA377642747 | PLCE1 | c.4559C>G (p.Ala1520Gly) c.*2026C>G (n.*2026C>G) n.2218C>G n.902C>G c.*767C>G (n.*767C>G) c.4511C>G (p.Ala1504Gly) n.9691C>G n.3156C>G c.5351C>G (p.Ala1784Gly) c.5435C>G (p.Ala1812Gly) c.5483C>G (p.Ala1828Gly) c.4457C>G (p.Ala1486Gly) c.4038C>G c.3599C>G (p.Ala1200Gly) c.*1416C>G (n.*1416C>G) c.4752C>G c.5525C>G (p.Ala1842Gly) c.5522C>G (p.Ala1841Gly) c.5477C>G (p.Ala1826Gly) c.4601C>G (p.Ala1534Gly) c.4370C>G (p.Ala1457Gly) | |
10 | g.94304506C>T | CA377642748 | PLCE1 | c.4559C>T (p.Ala1520Val) c.*2026C>T (n.*2026C>T) n.2218C>T n.902C>T c.*767C>T (n.*767C>T) c.4511C>T (p.Ala1504Val) n.9691C>T n.3156C>T c.5351C>T (p.Ala1784Val) c.5435C>T (p.Ala1812Val) c.5483C>T (p.Ala1828Val) c.4457C>T (p.Ala1486Val) c.4038C>T c.3599C>T (p.Ala1200Val) c.*1416C>T (n.*1416C>T) c.4752C>T c.5525C>T (p.Ala1842Val) c.5522C>T (p.Ala1841Val) c.5477C>T (p.Ala1826Val) c.4601C>T (p.Ala1534Val) c.4370C>T (p.Ala1457Val) | |
10 | g.94304507A>C | CA470808480 | PLCE1 | c.4560A>C (p.Ala1520=) c.*2027A>C (n.*2027A>C) n.2219A>C n.903A>C c.*768A>C (n.*768A>C) c.4512A>C (p.Ala1504=) n.9692A>C n.3157A>C c.5352A>C (p.Ala1784=) c.5436A>C (p.Ala1812=) c.5484A>C (p.Ala1828=) c.4458A>C (p.Ala1486=) c.4039A>C c.3600A>C (p.Ala1200=) c.*1417A>C (n.*1417A>C) c.4753A>C c.5526A>C (p.Ala1842=) c.5523A>C (p.Ala1841=) c.5478A>C (p.Ala1826=) c.4602A>C (p.Ala1534=) c.4371A>C (p.Ala1457=) | |
10 | g.94304507A>G | CA470808481 | PLCE1 | c.4560A>G (p.Ala1520=) c.*2027A>G (n.*2027A>G) n.2219A>G n.903A>G c.*768A>G (n.*768A>G) c.4512A>G (p.Ala1504=) n.9692A>G n.3157A>G c.5352A>G (p.Ala1784=) c.5436A>G (p.Ala1812=) c.5484A>G (p.Ala1828=) c.4458A>G (p.Ala1486=) c.4039A>G c.3600A>G (p.Ala1200=) c.*1417A>G (n.*1417A>G) c.4753A>G c.5526A>G (p.Ala1842=) c.5523A>G (p.Ala1841=) c.5478A>G (p.Ala1826=) c.4602A>G (p.Ala1534=) c.4371A>G (p.Ala1457=) | |
10 | g.94304507A>T | CA470808482 | PLCE1 | c.4560A>T (p.Ala1520=) c.*2027A>T (n.*2027A>T) n.2219A>T n.903A>T c.*768A>T (n.*768A>T) c.4512A>T (p.Ala1504=) n.9692A>T n.3157A>T c.5352A>T (p.Ala1784=) c.5436A>T (p.Ala1812=) c.5484A>T (p.Ala1828=) c.4458A>T (p.Ala1486=) c.4039A>T c.3600A>T (p.Ala1200=) c.*1417A>T (n.*1417A>T) c.4753A>T c.5526A>T (p.Ala1842=) c.5523A>T (p.Ala1841=) c.5478A>T (p.Ala1826=) c.4602A>T (p.Ala1534=) c.4371A>T (p.Ala1457=) | |
10 | g.94304508A>C | CA377642749 | PLCE1 | c.4561A>C (p.Met1521Leu) c.*2028A>C (n.*2028A>C) n.2220A>C n.904A>C c.*769A>C (n.*769A>C) c.4513A>C (p.Met1505Leu) n.9693A>C n.3158A>C c.5353A>C (p.Met1785Leu) c.5437A>C (p.Met1813Leu) c.5485A>C (p.Met1829Leu) c.4459A>C (p.Met1487Leu) c.4040A>C c.3601A>C (p.Met1201Leu) c.*1418A>C (n.*1418A>C) c.4754A>C c.5527A>C (p.Met1843Leu) c.5524A>C (p.Met1842Leu) c.5479A>C (p.Met1827Leu) c.4603A>C (p.Met1535Leu) c.4372A>C (p.Met1458Leu) | |
10 | g.94304508A>G | CA377642750 | PLCE1 | c.4561A>G (p.Met1521Val) c.*2028A>G (n.*2028A>G) n.2220A>G n.904A>G c.*769A>G (n.*769A>G) c.4513A>G (p.Met1505Val) n.9693A>G n.3158A>G c.5353A>G (p.Met1785Val) c.5437A>G (p.Met1813Val) c.5485A>G (p.Met1829Val) c.4459A>G (p.Met1487Val) c.4040A>G c.3601A>G (p.Met1201Val) c.*1418A>G (n.*1418A>G) c.4754A>G c.5527A>G (p.Met1843Val) c.5524A>G (p.Met1842Val) c.5479A>G (p.Met1827Val) c.4603A>G (p.Met1535Val) c.4372A>G (p.Met1458Val) | gnomAD v4 |
10 | g.94304508A>T | CA377642751 | PLCE1 | c.4561A>T (p.Met1521Leu) c.*2028A>T (n.*2028A>T) n.2220A>T n.904A>T c.*769A>T (n.*769A>T) c.4513A>T (p.Met1505Leu) n.9693A>T n.3158A>T c.5353A>T (p.Met1785Leu) c.5437A>T (p.Met1813Leu) c.5485A>T (p.Met1829Leu) c.4459A>T (p.Met1487Leu) c.4040A>T c.3601A>T (p.Met1201Leu) c.*1418A>T (n.*1418A>T) c.4754A>T c.5527A>T (p.Met1843Leu) c.5524A>T (p.Met1842Leu) c.5479A>T (p.Met1827Leu) c.4603A>T (p.Met1535Leu) c.4372A>T (p.Met1458Leu) | |
10 | g.94304509T>A | CA377642752 | PLCE1 | c.4562T>A (p.Met1521Lys) c.*2029T>A (n.*2029T>A) n.2221T>A n.905T>A c.*770T>A (n.*770T>A) c.4514T>A (p.Met1505Lys) n.9694T>A n.3159T>A c.5354T>A (p.Met1785Lys) c.5438T>A (p.Met1813Lys) c.5486T>A (p.Met1829Lys) c.4460T>A (p.Met1487Lys) c.4041T>A c.3602T>A (p.Met1201Lys) c.*1419T>A (n.*1419T>A) c.4755T>A c.5528T>A (p.Met1843Lys) c.5525T>A (p.Met1842Lys) c.5480T>A (p.Met1827Lys) c.4604T>A (p.Met1535Lys) c.4373T>A (p.Met1458Lys) | |
10 | g.94304509T>C | CA377642753 | PLCE1 | c.4562T>C (p.Met1521Thr) c.*2029T>C (n.*2029T>C) n.2221T>C n.905T>C c.*770T>C (n.*770T>C) c.4514T>C (p.Met1505Thr) n.9694T>C n.3159T>C c.5354T>C (p.Met1785Thr) c.5438T>C (p.Met1813Thr) c.5486T>C (p.Met1829Thr) c.4460T>C (p.Met1487Thr) c.4041T>C c.3602T>C (p.Met1201Thr) c.*1419T>C (n.*1419T>C) c.4755T>C c.5528T>C (p.Met1843Thr) c.5525T>C (p.Met1842Thr) c.5480T>C (p.Met1827Thr) c.4604T>C (p.Met1535Thr) c.4373T>C (p.Met1458Thr) | |
10 | g.94304509T>G | CA377642754 | PLCE1 | c.4562T>G (p.Met1521Arg) c.*2029T>G (n.*2029T>G) n.2221T>G n.905T>G c.*770T>G (n.*770T>G) c.4514T>G (p.Met1505Arg) n.9694T>G n.3159T>G c.5354T>G (p.Met1785Arg) c.5438T>G (p.Met1813Arg) c.5486T>G (p.Met1829Arg) c.4460T>G (p.Met1487Arg) c.4041T>G c.3602T>G (p.Met1201Arg) c.*1419T>G (n.*1419T>G) c.4755T>G c.5528T>G (p.Met1843Arg) c.5525T>G (p.Met1842Arg) c.5480T>G (p.Met1827Arg) c.4604T>G (p.Met1535Arg) c.4373T>G (p.Met1458Arg) | |
10 | g.94304510G>A | CA377642760 | PLCE1 | c.4563G>A (p.Met1521Ile) c.*2030G>A (n.*2030G>A) n.2222G>A n.906G>A c.*771G>A (n.*771G>A) c.4515G>A (p.Met1505Ile) n.9695G>A n.3160G>A c.5355G>A (p.Met1785Ile) c.5439G>A (p.Met1813Ile) c.5487G>A (p.Met1829Ile) c.4461G>A (p.Met1487Ile) c.4042G>A c.3603G>A (p.Met1201Ile) c.*1420G>A (n.*1420G>A) c.4756G>A c.5529G>A (p.Met1843Ile) c.5526G>A (p.Met1842Ile) c.5481G>A (p.Met1827Ile) c.4605G>A (p.Met1535Ile) c.4374G>A (p.Met1458Ile) | |
10 | g.94304510G>C | CA377642756 | PLCE1 | c.4563G>C (p.Met1521Ile) c.*2030G>C (n.*2030G>C) n.2222G>C n.906G>C c.*771G>C (n.*771G>C) c.4515G>C (p.Met1505Ile) n.9695G>C n.3160G>C c.5355G>C (p.Met1785Ile) c.5439G>C (p.Met1813Ile) c.5487G>C (p.Met1829Ile) c.4461G>C (p.Met1487Ile) c.4042G>C c.3603G>C (p.Met1201Ile) c.*1420G>C (n.*1420G>C) c.4756G>C c.5529G>C (p.Met1843Ile) c.5526G>C (p.Met1842Ile) c.5481G>C (p.Met1827Ile) c.4605G>C (p.Met1535Ile) c.4374G>C (p.Met1458Ile) | |
10 | g.94304510G>T | CA377642758 | PLCE1 | c.4563G>T (p.Met1521Ile) c.*2030G>T (n.*2030G>T) n.2222G>T n.906G>T c.*771G>T (n.*771G>T) c.4515G>T (p.Met1505Ile) n.9695G>T n.3160G>T c.5355G>T (p.Met1785Ile) c.5439G>T (p.Met1813Ile) c.5487G>T (p.Met1829Ile) c.4461G>T (p.Met1487Ile) c.4042G>T c.3603G>T (p.Met1201Ile) c.*1420G>T (n.*1420G>T) c.4756G>T c.5529G>T (p.Met1843Ile) c.5526G>T (p.Met1842Ile) c.5481G>T (p.Met1827Ile) c.4605G>T (p.Met1535Ile) c.4374G>T (p.Met1458Ile) | |
10 | g.94304511T>A | CA377642762 | PLCE1 | c.4564T>A (p.Phe1522Ile) c.*2031T>A (n.*2031T>A) n.2223T>A n.907T>A c.*772T>A (n.*772T>A) c.4516T>A (p.Phe1506Ile) n.9696T>A n.3161T>A c.5356T>A (p.Phe1786Ile) c.5440T>A (p.Phe1814Ile) c.5488T>A (p.Phe1830Ile) c.4462T>A (p.Phe1488Ile) c.4043T>A c.3604T>A (p.Phe1202Ile) c.*1421T>A (n.*1421T>A) c.4757T>A c.5530T>A (p.Phe1844Ile) c.5527T>A (p.Phe1843Ile) c.5482T>A (p.Phe1828Ile) c.4606T>A (p.Phe1536Ile) c.4375T>A (p.Phe1459Ile) | |
10 | g.94304511T>C | CA377642764 | PLCE1 | c.4564T>C (p.Phe1522Leu) c.*2031T>C (n.*2031T>C) n.2223T>C n.907T>C c.*772T>C (n.*772T>C) c.4516T>C (p.Phe1506Leu) n.9696T>C n.3161T>C c.5356T>C (p.Phe1786Leu) c.5440T>C (p.Phe1814Leu) c.5488T>C (p.Phe1830Leu) c.4462T>C (p.Phe1488Leu) c.4043T>C c.3604T>C (p.Phe1202Leu) c.*1421T>C (n.*1421T>C) c.4757T>C c.5530T>C (p.Phe1844Leu) c.5527T>C (p.Phe1843Leu) c.5482T>C (p.Phe1828Leu) c.4606T>C (p.Phe1536Leu) c.4375T>C (p.Phe1459Leu) | |
10 | g.94304511T>G | CA377642766 | PLCE1 | c.4564T>G (p.Phe1522Val) c.*2031T>G (n.*2031T>G) n.2223T>G n.907T>G c.*772T>G (n.*772T>G) c.4516T>G (p.Phe1506Val) n.9696T>G n.3161T>G c.5356T>G (p.Phe1786Val) c.5440T>G (p.Phe1814Val) c.5488T>G (p.Phe1830Val) c.4462T>G (p.Phe1488Val) c.4043T>G c.3604T>G (p.Phe1202Val) c.*1421T>G (n.*1421T>G) c.4757T>G c.5530T>G (p.Phe1844Val) c.5527T>G (p.Phe1843Val) c.5482T>G (p.Phe1828Val) c.4606T>G (p.Phe1536Val) c.4375T>G (p.Phe1459Val) | |
10 | g.94304512T>A | CA377642768 | PLCE1 | c.4565T>A (p.Phe1522Tyr) c.*2032T>A (n.*2032T>A) n.2224T>A n.908T>A c.*773T>A (n.*773T>A) c.4517T>A (p.Phe1506Tyr) n.9697T>A n.3162T>A c.5357T>A (p.Phe1786Tyr) c.5441T>A (p.Phe1814Tyr) c.5489T>A (p.Phe1830Tyr) c.4463T>A (p.Phe1488Tyr) c.4044T>A c.3605T>A (p.Phe1202Tyr) c.*1422T>A (n.*1422T>A) c.4758T>A c.5531T>A (p.Phe1844Tyr) c.5528T>A (p.Phe1843Tyr) c.5483T>A (p.Phe1828Tyr) c.4607T>A (p.Phe1536Tyr) c.4376T>A (p.Phe1459Tyr) | |
10 | g.94304512T>C | CA377642770 | PLCE1 | c.4565T>C (p.Phe1522Ser) c.*2032T>C (n.*2032T>C) n.2224T>C n.908T>C c.*773T>C (n.*773T>C) c.4517T>C (p.Phe1506Ser) n.9697T>C n.3162T>C c.5357T>C (p.Phe1786Ser) c.5441T>C (p.Phe1814Ser) c.5489T>C (p.Phe1830Ser) c.4463T>C (p.Phe1488Ser) c.4044T>C c.3605T>C (p.Phe1202Ser) c.*1422T>C (n.*1422T>C) c.4758T>C c.5531T>C (p.Phe1844Ser) c.5528T>C (p.Phe1843Ser) c.5483T>C (p.Phe1828Ser) c.4607T>C (p.Phe1536Ser) c.4376T>C (p.Phe1459Ser) | gnomAD v4 |
10 | g.94304512T>G | CA377642771 | PLCE1 | c.4565T>G (p.Phe1522Cys) c.*2032T>G (n.*2032T>G) n.2224T>G n.908T>G c.*773T>G (n.*773T>G) c.4517T>G (p.Phe1506Cys) n.9697T>G n.3162T>G c.5357T>G (p.Phe1786Cys) c.5441T>G (p.Phe1814Cys) c.5489T>G (p.Phe1830Cys) c.4463T>G (p.Phe1488Cys) c.4044T>G c.3605T>G (p.Phe1202Cys) c.*1422T>G (n.*1422T>G) c.4758T>G c.5531T>G (p.Phe1844Cys) c.5528T>G (p.Phe1843Cys) c.5483T>G (p.Phe1828Cys) c.4607T>G (p.Phe1536Cys) c.4376T>G (p.Phe1459Cys) | |
10 | g.94304513T>A | CA377642773 | PLCE1 | c.4566T>A (p.Phe1522Leu) c.*2033T>A (n.*2033T>A) n.2225T>A n.909T>A c.*774T>A (n.*774T>A) c.4518T>A (p.Phe1506Leu) n.9698T>A n.3163T>A c.5358T>A (p.Phe1786Leu) c.5442T>A (p.Phe1814Leu) c.5490T>A (p.Phe1830Leu) c.4464T>A (p.Phe1488Leu) c.4045T>A c.3606T>A (p.Phe1202Leu) c.*1423T>A (n.*1423T>A) c.4759T>A c.5532T>A (p.Phe1844Leu) c.5529T>A (p.Phe1843Leu) c.5484T>A (p.Phe1828Leu) c.4608T>A (p.Phe1536Leu) c.4377T>A (p.Phe1459Leu) | |
10 | g.94304513T>C | CA470808484 | PLCE1 | c.4566T>C (p.Phe1522=) c.*2033T>C (n.*2033T>C) n.2225T>C n.909T>C c.*774T>C (n.*774T>C) c.4518T>C (p.Phe1506=) n.9698T>C n.3163T>C c.5358T>C (p.Phe1786=) c.5442T>C (p.Phe1814=) c.5490T>C (p.Phe1830=) c.4464T>C (p.Phe1488=) c.4045T>C c.3606T>C (p.Phe1202=) c.*1423T>C (n.*1423T>C) c.4759T>C c.5532T>C (p.Phe1844=) c.5529T>C (p.Phe1843=) c.5484T>C (p.Phe1828=) c.4608T>C (p.Phe1536=) c.4377T>C (p.Phe1459=) | |
10 | g.94304513T>G | CA377642774 | PLCE1 | c.4566T>G (p.Phe1522Leu) c.*2033T>G (n.*2033T>G) n.2225T>G n.909T>G c.*774T>G (n.*774T>G) c.4518T>G (p.Phe1506Leu) n.9698T>G n.3163T>G c.5358T>G (p.Phe1786Leu) c.5442T>G (p.Phe1814Leu) c.5490T>G (p.Phe1830Leu) c.4464T>G (p.Phe1488Leu) c.4045T>G c.3606T>G (p.Phe1202Leu) c.*1423T>G (n.*1423T>G) c.4759T>G c.5532T>G (p.Phe1844Leu) c.5529T>G (p.Phe1843Leu) c.5484T>G (p.Phe1828Leu) c.4608T>G (p.Phe1536Leu) c.4377T>G (p.Phe1459Leu) | |
10 | g.94304514G>A | CA377642775 | PLCE1 | c.4567G>A (p.Glu1523Lys) c.*2034G>A (n.*2034G>A) n.2226G>A n.910G>A c.*775G>A (n.*775G>A) c.4519G>A (p.Glu1507Lys) n.9699G>A n.3164G>A c.5359G>A (p.Glu1787Lys) c.5443G>A (p.Glu1815Lys) c.5491G>A (p.Glu1831Lys) c.4465G>A (p.Glu1489Lys) c.4046G>A c.3607G>A (p.Glu1203Lys) c.*1424G>A (n.*1424G>A) c.4760G>A c.5533G>A (p.Glu1845Lys) c.5530G>A (p.Glu1844Lys) c.5485G>A (p.Glu1829Lys) c.4609G>A (p.Glu1537Lys) c.4378G>A (p.Glu1460Lys) | COSMIC COSMIC COSMIC |
10 | g.94304514G>C | CA377642776 | PLCE1 | c.4567G>C (p.Glu1523Gln) c.*2034G>C (n.*2034G>C) n.2226G>C n.910G>C c.*775G>C (n.*775G>C) c.4519G>C (p.Glu1507Gln) n.9699G>C n.3164G>C c.5359G>C (p.Glu1787Gln) c.5443G>C (p.Glu1815Gln) c.5491G>C (p.Glu1831Gln) c.4465G>C (p.Glu1489Gln) c.4046G>C c.3607G>C (p.Glu1203Gln) c.*1424G>C (n.*1424G>C) c.4760G>C c.5533G>C (p.Glu1845Gln) c.5530G>C (p.Glu1844Gln) c.5485G>C (p.Glu1829Gln) c.4609G>C (p.Glu1537Gln) c.4378G>C (p.Glu1460Gln) | |
10 | g.94304514G>T | CA377642778 | PLCE1 | c.4567G>T (p.Glu1523Ter) c.*2034G>T (n.*2034G>T) n.2226G>T n.910G>T c.*775G>T (n.*775G>T) c.4519G>T (p.Glu1507Ter) n.9699G>T n.3164G>T c.5359G>T (p.Glu1787Ter) c.5443G>T (p.Glu1815Ter) c.5491G>T (p.Glu1831Ter) c.4465G>T (p.Glu1489Ter) c.4046G>T c.3607G>T (p.Glu1203Ter) c.*1424G>T (n.*1424G>T) c.4760G>T c.5533G>T (p.Glu1845Ter) c.5530G>T (p.Glu1844Ter) c.5485G>T (p.Glu1829Ter) c.4609G>T (p.Glu1537Ter) c.4378G>T (p.Glu1460Ter) | |
10 | g.94304515A= | CA1929000765 | PLCE1 | c.4568A= (p.Glu1523=) c.*2035A= (n.*2035A=) n.2227A= n.911A= c.*776A= (n.*776A=) c.4520A= (p.Glu1507=) n.9700A= n.3165A= c.5360A= (p.Glu1787=) c.5444A= (p.Glu1815=) c.5492A= (p.Glu1831=) c.4466A= (p.Glu1489=) c.4047A= c.3608A= (p.Glu1203=) c.*1425A= (n.*1425A=) c.4761A= c.5534A= (p.Glu1845=) c.5531A= (p.Glu1844=) c.5486A= (p.Glu1829=) c.4610A= (p.Glu1537=) c.4379A= (p.Glu1460=) | |
10 | g.94304515A>C | CA377642783 | PLCE1 | c.4568A>C (p.Glu1523Ala) c.*2035A>C (n.*2035A>C) n.2227A>C n.911A>C c.*776A>C (n.*776A>C) c.4520A>C (p.Glu1507Ala) n.9700A>C n.3165A>C c.5360A>C (p.Glu1787Ala) c.5444A>C (p.Glu1815Ala) c.5492A>C (p.Glu1831Ala) c.4466A>C (p.Glu1489Ala) c.4047A>C c.3608A>C (p.Glu1203Ala) c.*1425A>C (n.*1425A>C) c.4761A>C c.5534A>C (p.Glu1845Ala) c.5531A>C (p.Glu1844Ala) c.5486A>C (p.Glu1829Ala) c.4610A>C (p.Glu1537Ala) c.4379A>C (p.Glu1460Ala) | |
10 | g.94304515A>G | CA5613375 | PLCE1 | c.4568A>G (p.Glu1523Gly) c.*2035A>G (n.*2035A>G) n.2227A>G n.911A>G c.*776A>G (n.*776A>G) c.4520A>G (p.Glu1507Gly) n.9700A>G n.3165A>G c.5360A>G (p.Glu1787Gly) c.5444A>G (p.Glu1815Gly) c.5492A>G (p.Glu1831Gly) c.4466A>G (p.Glu1489Gly) c.4047A>G c.3608A>G (p.Glu1203Gly) c.*1425A>G (n.*1425A>G) c.4761A>G c.5534A>G (p.Glu1845Gly) c.5531A>G (p.Glu1844Gly) c.5486A>G (p.Glu1829Gly) c.4610A>G (p.Glu1537Gly) c.4379A>G (p.Glu1460Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94304515A>T | CA377642781 | PLCE1 | c.4568A>T (p.Glu1523Val) c.*2035A>T (n.*2035A>T) n.2227A>T n.911A>T c.*776A>T (n.*776A>T) c.4520A>T (p.Glu1507Val) n.9700A>T n.3165A>T c.5360A>T (p.Glu1787Val) c.5444A>T (p.Glu1815Val) c.5492A>T (p.Glu1831Val) c.4466A>T (p.Glu1489Val) c.4047A>T c.3608A>T (p.Glu1203Val) c.*1425A>T (n.*1425A>T) c.4761A>T c.5534A>T (p.Glu1845Val) c.5531A>T (p.Glu1844Val) c.5486A>T (p.Glu1829Val) c.4610A>T (p.Glu1537Val) c.4379A>T (p.Glu1460Val) | |
10 | g.94304516G>A | CA470808485 | PLCE1 | c.4569G>A (p.Glu1523=) c.*2036G>A (n.*2036G>A) n.2228G>A n.912G>A c.*777G>A (n.*777G>A) c.4521G>A (p.Glu1507=) n.9701G>A n.3166G>A c.5361G>A (p.Glu1787=) c.5445G>A (p.Glu1815=) c.5493G>A (p.Glu1831=) c.4467G>A (p.Glu1489=) c.4048G>A c.3609G>A (p.Glu1203=) c.*1426G>A (n.*1426G>A) c.4762G>A c.5535G>A (p.Glu1845=) c.5532G>A (p.Glu1844=) c.5487G>A (p.Glu1829=) c.4611G>A (p.Glu1537=) c.4380G>A (p.Glu1460=) | COSMIC COSMIC COSMIC COSMIC |
10 | g.94304516G>C | CA377642786 | PLCE1 | c.4569G>C (p.Glu1523Asp) c.*2036G>C (n.*2036G>C) n.2228G>C n.912G>C c.*777G>C (n.*777G>C) c.4521G>C (p.Glu1507Asp) n.9701G>C n.3166G>C c.5361G>C (p.Glu1787Asp) c.5445G>C (p.Glu1815Asp) c.5493G>C (p.Glu1831Asp) c.4467G>C (p.Glu1489Asp) c.4048G>C c.3609G>C (p.Glu1203Asp) c.*1426G>C (n.*1426G>C) c.4762G>C c.5535G>C (p.Glu1845Asp) c.5532G>C (p.Glu1844Asp) c.5487G>C (p.Glu1829Asp) c.4611G>C (p.Glu1537Asp) c.4380G>C (p.Glu1460Asp) | |
10 | g.94304516G>T | CA377642787 | PLCE1 | c.4569G>T (p.Glu1523Asp) c.*2036G>T (n.*2036G>T) n.2228G>T n.912G>T c.*777G>T (n.*777G>T) c.4521G>T (p.Glu1507Asp) n.9701G>T n.3166G>T c.5361G>T (p.Glu1787Asp) c.5445G>T (p.Glu1815Asp) c.5493G>T (p.Glu1831Asp) c.4467G>T (p.Glu1489Asp) c.4048G>T c.3609G>T (p.Glu1203Asp) c.*1426G>T (n.*1426G>T) c.4762G>T c.5535G>T (p.Glu1845Asp) c.5532G>T (p.Glu1844Asp) c.5487G>T (p.Glu1829Asp) c.4611G>T (p.Glu1537Asp) c.4380G>T (p.Glu1460Asp) | gnomAD v4 |
10 | g.94304517G>A | CA377642790 | PLCE1 | c.4570G>A (p.Ala1524Thr) c.*2037G>A (n.*2037G>A) n.2229G>A n.913G>A c.*778G>A (n.*778G>A) c.4522G>A (p.Ala1508Thr) n.9702G>A n.3167G>A c.5362G>A (p.Ala1788Thr) c.5446G>A (p.Ala1816Thr) c.5494G>A (p.Ala1832Thr) c.4468G>A (p.Ala1490Thr) c.4049G>A c.3610G>A (p.Ala1204Thr) c.*1427G>A (n.*1427G>A) c.4763G>A c.5536G>A (p.Ala1846Thr) c.5533G>A (p.Ala1845Thr) c.5488G>A (p.Ala1830Thr) c.4612G>A (p.Ala1538Thr) c.4381G>A (p.Ala1461Thr) | gnomAD v4 |
10 | g.94304517G>C | CA377642791 | PLCE1 | c.4570G>C (p.Ala1524Pro) c.*2037G>C (n.*2037G>C) n.2229G>C n.913G>C c.*778G>C (n.*778G>C) c.4522G>C (p.Ala1508Pro) n.9702G>C n.3167G>C c.5362G>C (p.Ala1788Pro) c.5446G>C (p.Ala1816Pro) c.5494G>C (p.Ala1832Pro) c.4468G>C (p.Ala1490Pro) c.4049G>C c.3610G>C (p.Ala1204Pro) c.*1427G>C (n.*1427G>C) c.4763G>C c.5536G>C (p.Ala1846Pro) c.5533G>C (p.Ala1845Pro) c.5488G>C (p.Ala1830Pro) c.4612G>C (p.Ala1538Pro) c.4381G>C (p.Ala1461Pro) | |
10 | g.94304517G>T | CA377642793 | PLCE1 | c.4570G>T (p.Ala1524Ser) c.*2037G>T (n.*2037G>T) n.2229G>T n.913G>T c.*778G>T (n.*778G>T) c.4522G>T (p.Ala1508Ser) n.9702G>T n.3167G>T c.5362G>T (p.Ala1788Ser) c.5446G>T (p.Ala1816Ser) c.5494G>T (p.Ala1832Ser) c.4468G>T (p.Ala1490Ser) c.4049G>T c.3610G>T (p.Ala1204Ser) c.*1427G>T (n.*1427G>T) c.4763G>T c.5536G>T (p.Ala1846Ser) c.5533G>T (p.Ala1845Ser) c.5488G>T (p.Ala1830Ser) c.4612G>T (p.Ala1538Ser) c.4381G>T (p.Ala1461Ser) | |
10 | g.94304518C>A | CA377642795 | PLCE1 | c.4571C>A (p.Ala1524Glu) c.*2038C>A (n.*2038C>A) n.2230C>A n.914C>A c.*779C>A (n.*779C>A) c.4523C>A (p.Ala1508Glu) n.9703C>A n.3168C>A c.5363C>A (p.Ala1788Glu) c.5447C>A (p.Ala1816Glu) c.5495C>A (p.Ala1832Glu) c.4469C>A (p.Ala1490Glu) c.4050C>A c.3611C>A (p.Ala1204Glu) c.*1428C>A (n.*1428C>A) c.4764C>A c.5537C>A (p.Ala1846Glu) c.5534C>A (p.Ala1845Glu) c.5489C>A (p.Ala1830Glu) c.4613C>A (p.Ala1538Glu) c.4382C>A (p.Ala1461Glu) | dbSNP gnomAD v4 |
10 | g.94304518C= | CA1929000766 | PLCE1 | c.4571C= (p.Ala1524=) c.*2038C= (n.*2038C=) n.2230C= n.914C= c.*779C= (n.*779C=) c.4523C= (p.Ala1508=) n.9703C= n.3168C= c.5363C= (p.Ala1788=) c.5447C= (p.Ala1816=) c.5495C= (p.Ala1832=) c.4469C= (p.Ala1490=) c.4050C= c.3611C= (p.Ala1204=) c.*1428C= (n.*1428C=) c.4764C= c.5537C= (p.Ala1846=) c.5534C= (p.Ala1845=) c.5489C= (p.Ala1830=) c.4613C= (p.Ala1538=) c.4382C= (p.Ala1461=) | |
10 | g.94304518C>G | CA377642797 | PLCE1 | c.4571C>G (p.Ala1524Gly) c.*2038C>G (n.*2038C>G) n.2230C>G n.914C>G c.*779C>G (n.*779C>G) c.4523C>G (p.Ala1508Gly) n.9703C>G n.3168C>G c.5363C>G (p.Ala1788Gly) c.5447C>G (p.Ala1816Gly) c.5495C>G (p.Ala1832Gly) c.4469C>G (p.Ala1490Gly) c.4050C>G c.3611C>G (p.Ala1204Gly) c.*1428C>G (n.*1428C>G) c.4764C>G c.5537C>G (p.Ala1846Gly) c.5534C>G (p.Ala1845Gly) c.5489C>G (p.Ala1830Gly) c.4613C>G (p.Ala1538Gly) c.4382C>G (p.Ala1461Gly) | gnomAD v4 |
10 | g.94304518C>T | CA377642798 | PLCE1 | c.4571C>T (p.Ala1524Val) c.*2038C>T (n.*2038C>T) n.2230C>T n.914C>T c.*779C>T (n.*779C>T) c.4523C>T (p.Ala1508Val) n.9703C>T n.3168C>T c.5363C>T (p.Ala1788Val) c.5447C>T (p.Ala1816Val) c.5495C>T (p.Ala1832Val) c.4469C>T (p.Ala1490Val) c.4050C>T c.3611C>T (p.Ala1204Val) c.*1428C>T (n.*1428C>T) c.4764C>T c.5537C>T (p.Ala1846Val) c.5534C>T (p.Ala1845Val) c.5489C>T (p.Ala1830Val) c.4613C>T (p.Ala1538Val) c.4382C>T (p.Ala1461Val) | |
10 | g.94304519A>C | CA470808488 | PLCE1 | c.4572A>C (p.Ala1524=) c.*2039A>C (n.*2039A>C) n.2231A>C n.915A>C c.*780A>C (n.*780A>C) c.4524A>C (p.Ala1508=) n.9704A>C n.3169A>C c.5364A>C (p.Ala1788=) c.5448A>C (p.Ala1816=) c.5496A>C (p.Ala1832=) c.4470A>C (p.Ala1490=) c.4051A>C c.3612A>C (p.Ala1204=) c.*1429A>C (n.*1429A>C) c.4765A>C c.5538A>C (p.Ala1846=) c.5535A>C (p.Ala1845=) c.5490A>C (p.Ala1830=) c.4614A>C (p.Ala1538=) c.4383A>C (p.Ala1461=) | |
10 | g.94304519A>G | CA470808489 | PLCE1 | c.4572A>G (p.Ala1524=) c.*2039A>G (n.*2039A>G) n.2231A>G n.915A>G c.*780A>G (n.*780A>G) c.4524A>G (p.Ala1508=) n.9704A>G n.3169A>G c.5364A>G (p.Ala1788=) c.5448A>G (p.Ala1816=) c.5496A>G (p.Ala1832=) c.4470A>G (p.Ala1490=) c.4051A>G c.3612A>G (p.Ala1204=) c.*1429A>G (n.*1429A>G) c.4765A>G c.5538A>G (p.Ala1846=) c.5535A>G (p.Ala1845=) c.5490A>G (p.Ala1830=) c.4614A>G (p.Ala1538=) c.4383A>G (p.Ala1461=) | |
10 | g.94304519A>T | CA470808490 | PLCE1 | c.4572A>T (p.Ala1524=) c.*2039A>T (n.*2039A>T) n.2231A>T n.915A>T c.*780A>T (n.*780A>T) c.4524A>T (p.Ala1508=) n.9704A>T n.3169A>T c.5364A>T (p.Ala1788=) c.5448A>T (p.Ala1816=) c.5496A>T (p.Ala1832=) c.4470A>T (p.Ala1490=) c.4051A>T c.3612A>T (p.Ala1204=) c.*1429A>T (n.*1429A>T) c.4765A>T c.5538A>T (p.Ala1846=) c.5535A>T (p.Ala1845=) c.5490A>T (p.Ala1830=) c.4614A>T (p.Ala1538=) c.4383A>T (p.Ala1461=) | |
10 | g.94304520A>C | CA377642801 | PLCE1 | c.4573A>C (p.Asn1525His) c.*2040A>C (n.*2040A>C) n.2232A>C n.916A>C c.*781A>C (n.*781A>C) c.4525A>C (p.Asn1509His) n.9705A>C n.3170A>C c.5365A>C (p.Asn1789His) c.5449A>C (p.Asn1817His) c.5497A>C (p.Asn1833His) c.4471A>C (p.Asn1491His) c.4052A>C c.3613A>C (p.Asn1205His) c.*1430A>C (n.*1430A>C) c.4766A>C c.5539A>C (p.Asn1847His) c.5536A>C (p.Asn1846His) c.5491A>C (p.Asn1831His) c.4615A>C (p.Asn1539His) c.4384A>C (p.Asn1462His) | |
10 | g.94304520A>G | CA377642803 | PLCE1 | c.4573A>G (p.Asn1525Asp) c.*2040A>G (n.*2040A>G) n.2232A>G n.916A>G c.*781A>G (n.*781A>G) c.4525A>G (p.Asn1509Asp) n.9705A>G n.3170A>G c.5365A>G (p.Asn1789Asp) c.5449A>G (p.Asn1817Asp) c.5497A>G (p.Asn1833Asp) c.4471A>G (p.Asn1491Asp) c.4052A>G c.3613A>G (p.Asn1205Asp) c.*1430A>G (n.*1430A>G) c.4766A>G c.5539A>G (p.Asn1847Asp) c.5536A>G (p.Asn1846Asp) c.5491A>G (p.Asn1831Asp) c.4615A>G (p.Asn1539Asp) c.4384A>G (p.Asn1462Asp) | |
10 | g.94304520A>T | CA377642804 | PLCE1 | c.4573A>T (p.Asn1525Tyr) c.*2040A>T (n.*2040A>T) n.2232A>T n.916A>T c.*781A>T (n.*781A>T) c.4525A>T (p.Asn1509Tyr) n.9705A>T n.3170A>T c.5365A>T (p.Asn1789Tyr) c.5449A>T (p.Asn1817Tyr) c.5497A>T (p.Asn1833Tyr) c.4471A>T (p.Asn1491Tyr) c.4052A>T c.3613A>T (p.Asn1205Tyr) c.*1430A>T (n.*1430A>T) c.4766A>T c.5539A>T (p.Asn1847Tyr) c.5536A>T (p.Asn1846Tyr) c.5491A>T (p.Asn1831Tyr) c.4615A>T (p.Asn1539Tyr) c.4384A>T (p.Asn1462Tyr) | |
10 | g.94304521A>C | CA377642807 | PLCE1 | c.4574A>C (p.Asn1525Thr) c.*2041A>C (n.*2041A>C) n.2233A>C n.917A>C c.*782A>C (n.*782A>C) c.4526A>C (p.Asn1509Thr) n.9706A>C n.3171A>C c.5366A>C (p.Asn1789Thr) c.5450A>C (p.Asn1817Thr) c.5498A>C (p.Asn1833Thr) c.4472A>C (p.Asn1491Thr) c.4053A>C c.3614A>C (p.Asn1205Thr) c.*1431A>C (n.*1431A>C) c.4767A>C c.5540A>C (p.Asn1847Thr) c.5537A>C (p.Asn1846Thr) c.5492A>C (p.Asn1831Thr) c.4616A>C (p.Asn1539Thr) c.4385A>C (p.Asn1462Thr) | |
10 | g.94304521A>G | CA377642808 | PLCE1 | c.4574A>G (p.Asn1525Ser) c.*2041A>G (n.*2041A>G) n.2233A>G n.917A>G c.*782A>G (n.*782A>G) c.4526A>G (p.Asn1509Ser) n.9706A>G n.3171A>G c.5366A>G (p.Asn1789Ser) c.5450A>G (p.Asn1817Ser) c.5498A>G (p.Asn1833Ser) c.4472A>G (p.Asn1491Ser) c.4053A>G c.3614A>G (p.Asn1205Ser) c.*1431A>G (n.*1431A>G) c.4767A>G c.5540A>G (p.Asn1847Ser) c.5537A>G (p.Asn1846Ser) c.5492A>G (p.Asn1831Ser) c.4616A>G (p.Asn1539Ser) c.4385A>G (p.Asn1462Ser) | |
10 | g.94304521A>T | CA377642810 | PLCE1 | c.4574A>T (p.Asn1525Ile) c.*2041A>T (n.*2041A>T) n.2233A>T n.917A>T c.*782A>T (n.*782A>T) c.4526A>T (p.Asn1509Ile) n.9706A>T n.3171A>T c.5366A>T (p.Asn1789Ile) c.5450A>T (p.Asn1817Ile) c.5498A>T (p.Asn1833Ile) c.4472A>T (p.Asn1491Ile) c.4053A>T c.3614A>T (p.Asn1205Ile) c.*1431A>T (n.*1431A>T) c.4767A>T c.5540A>T (p.Asn1847Ile) c.5537A>T (p.Asn1846Ile) c.5492A>T (p.Asn1831Ile) c.4616A>T (p.Asn1539Ile) c.4385A>T (p.Asn1462Ile) | |
10 | g.94304522T>A | CA377642812 | PLCE1 | c.4575T>A (p.Asn1525Lys) c.*2042T>A (n.*2042T>A) n.2234T>A n.918T>A c.*783T>A (n.*783T>A) c.4527T>A (p.Asn1509Lys) n.9707T>A n.3172T>A c.5367T>A (p.Asn1789Lys) c.5451T>A (p.Asn1817Lys) c.5499T>A (p.Asn1833Lys) c.4473T>A (p.Asn1491Lys) c.4054T>A c.3615T>A (p.Asn1205Lys) c.*1432T>A (n.*1432T>A) c.4768T>A c.5541T>A (p.Asn1847Lys) c.5538T>A (p.Asn1846Lys) c.5493T>A (p.Asn1831Lys) c.4617T>A (p.Asn1539Lys) c.4386T>A (p.Asn1462Lys) | |
10 | g.94304522T>C | CA470808491 | PLCE1 | c.4575T>C (p.Asn1525=) c.*2042T>C (n.*2042T>C) n.2234T>C n.918T>C c.*783T>C (n.*783T>C) c.4527T>C (p.Asn1509=) n.9707T>C n.3172T>C c.5367T>C (p.Asn1789=) c.5451T>C (p.Asn1817=) c.5499T>C (p.Asn1833=) c.4473T>C (p.Asn1491=) c.4054T>C c.3615T>C (p.Asn1205=) c.*1432T>C (n.*1432T>C) c.4768T>C c.5541T>C (p.Asn1847=) c.5538T>C (p.Asn1846=) c.5493T>C (p.Asn1831=) c.4617T>C (p.Asn1539=) c.4386T>C (p.Asn1462=) | |
10 | g.94304522T>G | CA377642814 | PLCE1 | c.4575T>G (p.Asn1525Lys) c.*2042T>G (n.*2042T>G) n.2234T>G n.918T>G c.*783T>G (n.*783T>G) c.4527T>G (p.Asn1509Lys) n.9707T>G n.3172T>G c.5367T>G (p.Asn1789Lys) c.5451T>G (p.Asn1817Lys) c.5499T>G (p.Asn1833Lys) c.4473T>G (p.Asn1491Lys) c.4054T>G c.3615T>G (p.Asn1205Lys) c.*1432T>G (n.*1432T>G) c.4768T>G c.5541T>G (p.Asn1847Lys) c.5538T>G (p.Asn1846Lys) c.5493T>G (p.Asn1831Lys) c.4617T>G (p.Asn1539Lys) c.4386T>G (p.Asn1462Lys) | |
10 | g.94304523G>A | CA377642816 | PLCE1 | c.4576G>A (p.Gly1526Ser) c.*2043G>A (n.*2043G>A) n.2235G>A n.919G>A c.*784G>A (n.*784G>A) c.4528G>A (p.Gly1510Ser) n.9708G>A n.3173G>A c.5368G>A (p.Gly1790Ser) c.5452G>A (p.Gly1818Ser) c.5500G>A (p.Gly1834Ser) c.4474G>A (p.Gly1492Ser) c.4055G>A c.3616G>A (p.Gly1206Ser) c.*1433G>A (n.*1433G>A) c.4769G>A c.5542G>A (p.Gly1848Ser) c.5539G>A (p.Gly1847Ser) c.5494G>A (p.Gly1832Ser) c.4618G>A (p.Gly1540Ser) c.4387G>A (p.Gly1463Ser) | |
10 | g.94304523G>C | CA377642818 | PLCE1 | c.4576G>C (p.Gly1526Arg) c.*2043G>C (n.*2043G>C) n.2235G>C n.919G>C c.*784G>C (n.*784G>C) c.4528G>C (p.Gly1510Arg) n.9708G>C n.3173G>C c.5368G>C (p.Gly1790Arg) c.5452G>C (p.Gly1818Arg) c.5500G>C (p.Gly1834Arg) c.4474G>C (p.Gly1492Arg) c.4055G>C c.3616G>C (p.Gly1206Arg) c.*1433G>C (n.*1433G>C) c.4769G>C c.5542G>C (p.Gly1848Arg) c.5539G>C (p.Gly1847Arg) c.5494G>C (p.Gly1832Arg) c.4618G>C (p.Gly1540Arg) c.4387G>C (p.Gly1463Arg) | |
10 | g.94304523G>T | CA377642820 | PLCE1 | c.4576G>T (p.Gly1526Cys) c.*2043G>T (n.*2043G>T) n.2235G>T n.919G>T c.*784G>T (n.*784G>T) c.4528G>T (p.Gly1510Cys) n.9708G>T n.3173G>T c.5368G>T (p.Gly1790Cys) c.5452G>T (p.Gly1818Cys) c.5500G>T (p.Gly1834Cys) c.4474G>T (p.Gly1492Cys) c.4055G>T c.3616G>T (p.Gly1206Cys) c.*1433G>T (n.*1433G>T) c.4769G>T c.5542G>T (p.Gly1848Cys) c.5539G>T (p.Gly1847Cys) c.5494G>T (p.Gly1832Cys) c.4618G>T (p.Gly1540Cys) c.4387G>T (p.Gly1463Cys) | |
10 | g.94304523_94304529delinsGGTGGTT | CA1929000767 | PLCE1 | c.4576_4582delinsGGTGGTT (p.Gly1526=) c.*2043_*2049delinsGGTGGTT (n.*2043_*2049delinsGGTGGTT) n.2235_2241delinsGGTGGTT n.919_925delinsGGTGGTT c.*784_*790delinsGGTGGTT (n.*784_*790delinsGGTGGTT) c.4528_4534delinsGGTGGTT (p.Gly1510=) n.9708_9714delinsGGTGGTT n.3173_3179delinsGGTGGTT c.5368_5374delinsGGTGGTT (p.Gly1790=) c.5452_5458delinsGGTGGTT (p.Gly1818=) c.5500_5506delinsGGTGGTT (p.Gly1834=) c.4474_4480delinsGGTGGTT (p.Gly1492=) c.4055_4061delinsGGTGGTT c.3616_3622delinsGGTGGTT (p.Gly1206=) c.*1433_*1439delinsGGTGGTT (n.*1433_*1439delinsGGTGGTT) c.4769_4775delinsGGTGGTT c.5542_5548delinsGGTGGTT (p.Gly1848=) c.5539_5545delinsGGTGGTT (p.Gly1847=) c.5494_5500delinsGGTGGTT (p.Gly1832=) c.4618_4624delinsGGTGGTT (p.Gly1540=) c.4387_4393delinsGGTGGTT (p.Gly1463=) | |
10 | g.94304524G>A | CA5613376 | PLCE1 | c.4577G>A (p.Gly1526Asp) c.*2044G>A (n.*2044G>A) n.2236G>A n.920G>A c.*785G>A (n.*785G>A) c.4529G>A (p.Gly1510Asp) n.9709G>A n.3174G>A c.5369G>A (p.Gly1790Asp) c.5453G>A (p.Gly1818Asp) c.5501G>A (p.Gly1834Asp) c.4475G>A (p.Gly1492Asp) c.4056G>A c.3617G>A (p.Gly1206Asp) c.*1434G>A (n.*1434G>A) c.4770G>A c.5543G>A (p.Gly1848Asp) c.5540G>A (p.Gly1847Asp) c.5495G>A (p.Gly1832Asp) c.4619G>A (p.Gly1540Asp) c.4388G>A (p.Gly1463Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94304524G>C | CA377642823 | PLCE1 | c.4577G>C (p.Gly1526Ala) c.*2044G>C (n.*2044G>C) n.2236G>C n.920G>C c.*785G>C (n.*785G>C) c.4529G>C (p.Gly1510Ala) n.9709G>C n.3174G>C c.5369G>C (p.Gly1790Ala) c.5453G>C (p.Gly1818Ala) c.5501G>C (p.Gly1834Ala) c.4475G>C (p.Gly1492Ala) c.4056G>C c.3617G>C (p.Gly1206Ala) c.*1434G>C (n.*1434G>C) c.4770G>C c.5543G>C (p.Gly1848Ala) c.5540G>C (p.Gly1847Ala) c.5495G>C (p.Gly1832Ala) c.4619G>C (p.Gly1540Ala) c.4388G>C (p.Gly1463Ala) | COSMIC COSMIC COSMIC COSMIC |
10 | g.94304524G= | CA1929000768 | PLCE1 | c.4577G= (p.Gly1526=) c.*2044G= (n.*2044G=) n.2236G= n.920G= c.*785G= (n.*785G=) c.4529G= (p.Gly1510=) n.9709G= n.3174G= c.5369G= (p.Gly1790=) c.5453G= (p.Gly1818=) c.5501G= (p.Gly1834=) c.4475G= (p.Gly1492=) c.4056G= c.3617G= (p.Gly1206=) c.*1434G= (n.*1434G=) c.4770G= c.5543G= (p.Gly1848=) c.5540G= (p.Gly1847=) c.5495G= (p.Gly1832=) c.4619G= (p.Gly1540=) c.4388G= (p.Gly1463=) | |
10 | g.94304524G>T | CA377642825 | PLCE1 | c.4577G>T (p.Gly1526Val) c.*2044G>T (n.*2044G>T) n.2236G>T n.920G>T c.*785G>T (n.*785G>T) c.4529G>T (p.Gly1510Val) n.9709G>T n.3174G>T c.5369G>T (p.Gly1790Val) c.5453G>T (p.Gly1818Val) c.5501G>T (p.Gly1834Val) c.4475G>T (p.Gly1492Val) c.4056G>T c.3617G>T (p.Gly1206Val) c.*1434G>T (n.*1434G>T) c.4770G>T c.5543G>T (p.Gly1848Val) c.5540G>T (p.Gly1847Val) c.5495G>T (p.Gly1832Val) c.4619G>T (p.Gly1540Val) c.4388G>T (p.Gly1463Val) | |
10 | g.94304530_94304535del | CA670130540 | PLCE1 | c.4583_4588del (p.Cys1528_Gly1529del) c.*2050_*2055del (n.*2050_*2055del) n.2242_2247del n.926_931del c.*791_*796del (n.*791_*796del) c.4535_4540del (p.Cys1512_Gly1513del) n.9715_9720del n.3180_3185del c.5375_5380del (p.Cys1792_Gly1793del) c.5459_5464del (p.Cys1820_Gly1821del) c.5507_5512del (p.Cys1836_Gly1837del) c.4481_4486del (p.Cys1494_Gly1495del) c.4062_4067del c.3623_3628del (p.Cys1208_Gly1209del) c.*1440_*1445del (n.*1440_*1445del) c.4776_4781del c.5549_5554del (p.Cys1850_Gly1851del) c.5546_5551del (p.Cys1849_Gly1850del) c.5501_5506del (p.Cys1834_Gly1835del) c.4625_4630del (p.Cys1542_Gly1543del) c.4394_4399del (p.Cys1465_Gly1466del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94304525T>A | CA470808494 | PLCE1 | c.4578T>A (p.Gly1526=) c.*2045T>A (n.*2045T>A) n.2237T>A n.921T>A c.*786T>A (n.*786T>A) c.4530T>A (p.Gly1510=) n.9710T>A n.3175T>A c.5370T>A (p.Gly1790=) c.5454T>A (p.Gly1818=) c.5502T>A (p.Gly1834=) c.4476T>A (p.Gly1492=) c.4057T>A c.3618T>A (p.Gly1206=) c.*1435T>A (n.*1435T>A) c.4771T>A c.5544T>A (p.Gly1848=) c.5541T>A (p.Gly1847=) c.5496T>A (p.Gly1832=) c.4620T>A (p.Gly1540=) c.4389T>A (p.Gly1463=) | |
10 | g.94304525T>C | CA5613377 | PLCE1 | c.4578T>C (p.Gly1526=) c.*2045T>C (n.*2045T>C) n.2237T>C n.921T>C c.*786T>C (n.*786T>C) c.4530T>C (p.Gly1510=) n.9710T>C n.3175T>C c.5370T>C (p.Gly1790=) c.5454T>C (p.Gly1818=) c.5502T>C (p.Gly1834=) c.4476T>C (p.Gly1492=) c.4057T>C c.3618T>C (p.Gly1206=) c.*1435T>C (n.*1435T>C) c.4771T>C c.5544T>C (p.Gly1848=) c.5541T>C (p.Gly1847=) c.5496T>C (p.Gly1832=) c.4620T>C (p.Gly1540=) c.4389T>C (p.Gly1463=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94304525T>G | CA470808495 | PLCE1 | c.4578T>G (p.Gly1526=) c.*2045T>G (n.*2045T>G) n.2237T>G n.921T>G c.*786T>G (n.*786T>G) c.4530T>G (p.Gly1510=) n.9710T>G n.3175T>G c.5370T>G (p.Gly1790=) c.5454T>G (p.Gly1818=) c.5502T>G (p.Gly1834=) c.4476T>G (p.Gly1492=) c.4057T>G c.3618T>G (p.Gly1206=) c.*1435T>G (n.*1435T>G) c.4771T>G c.5544T>G (p.Gly1848=) c.5541T>G (p.Gly1847=) c.5496T>G (p.Gly1832=) c.4620T>G (p.Gly1540=) c.4389T>G (p.Gly1463=) | |
10 | g.94304525T= | CA1929000769 | PLCE1 | c.4578T= (p.Gly1526=) c.*2045T= (n.*2045T=) n.2237T= n.921T= c.*786T= (n.*786T=) c.4530T= (p.Gly1510=) n.9710T= n.3175T= c.5370T= (p.Gly1790=) c.5454T= (p.Gly1818=) c.5502T= (p.Gly1834=) c.4476T= (p.Gly1492=) c.4057T= c.3618T= (p.Gly1206=) c.*1435T= (n.*1435T=) c.4771T= c.5544T= (p.Gly1848=) c.5541T= (p.Gly1847=) c.5496T= (p.Gly1832=) c.4620T= (p.Gly1540=) c.4389T= (p.Gly1463=) | |
10 | g.94304526G>A | CA377642828 | PLCE1 | c.4579G>A (p.Gly1527Ser) c.*2046G>A (n.*2046G>A) n.2238G>A n.922G>A c.*787G>A (n.*787G>A) c.4531G>A (p.Gly1511Ser) n.9711G>A n.3176G>A c.5371G>A (p.Gly1791Ser) c.5455G>A (p.Gly1819Ser) c.5503G>A (p.Gly1835Ser) c.4477G>A (p.Gly1493Ser) c.4058G>A c.3619G>A (p.Gly1207Ser) c.*1436G>A (n.*1436G>A) c.4772G>A c.5545G>A (p.Gly1849Ser) c.5542G>A (p.Gly1848Ser) c.5497G>A (p.Gly1833Ser) c.4621G>A (p.Gly1541Ser) c.4390G>A (p.Gly1464Ser) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94304526G>C | CA377642829 | PLCE1 | c.4579G>C (p.Gly1527Arg) c.*2046G>C (n.*2046G>C) n.2238G>C n.922G>C c.*787G>C (n.*787G>C) c.4531G>C (p.Gly1511Arg) n.9711G>C n.3176G>C c.5371G>C (p.Gly1791Arg) c.5455G>C (p.Gly1819Arg) c.5503G>C (p.Gly1835Arg) c.4477G>C (p.Gly1493Arg) c.4058G>C c.3619G>C (p.Gly1207Arg) c.*1436G>C (n.*1436G>C) c.4772G>C c.5545G>C (p.Gly1849Arg) c.5542G>C (p.Gly1848Arg) c.5497G>C (p.Gly1833Arg) c.4621G>C (p.Gly1541Arg) c.4390G>C (p.Gly1464Arg) | |
10 | g.94304526G= | CA1929000770 | PLCE1 | c.4579G= (p.Gly1527=) c.*2046G= (n.*2046G=) n.2238G= n.922G= c.*787G= (n.*787G=) c.4531G= (p.Gly1511=) n.9711G= n.3176G= c.5371G= (p.Gly1791=) c.5455G= (p.Gly1819=) c.5503G= (p.Gly1835=) c.4477G= (p.Gly1493=) c.4058G= c.3619G= (p.Gly1207=) c.*1436G= (n.*1436G=) c.4772G= c.5545G= (p.Gly1849=) c.5542G= (p.Gly1848=) c.5497G= (p.Gly1833=) c.4621G= (p.Gly1541=) c.4390G= (p.Gly1464=) | |
10 | g.94304526G>T | CA377642831 | PLCE1 | c.4579G>T (p.Gly1527Cys) c.*2046G>T (n.*2046G>T) n.2238G>T n.922G>T c.*787G>T (n.*787G>T) c.4531G>T (p.Gly1511Cys) n.9711G>T n.3176G>T c.5371G>T (p.Gly1791Cys) c.5455G>T (p.Gly1819Cys) c.5503G>T (p.Gly1835Cys) c.4477G>T (p.Gly1493Cys) c.4058G>T c.3619G>T (p.Gly1207Cys) c.*1436G>T (n.*1436G>T) c.4772G>T c.5545G>T (p.Gly1849Cys) c.5542G>T (p.Gly1848Cys) c.5497G>T (p.Gly1833Cys) c.4621G>T (p.Gly1541Cys) c.4390G>T (p.Gly1464Cys) | |
10 | g.94304527G>A | CA377642833 | PLCE1 | c.4580G>A (p.Gly1527Asp) c.*2047G>A (n.*2047G>A) n.2239G>A n.923G>A c.*788G>A (n.*788G>A) c.4532G>A (p.Gly1511Asp) n.9712G>A n.3177G>A c.5372G>A (p.Gly1791Asp) c.5456G>A (p.Gly1819Asp) c.5504G>A (p.Gly1835Asp) c.4478G>A (p.Gly1493Asp) c.4059G>A c.3620G>A (p.Gly1207Asp) c.*1437G>A (n.*1437G>A) c.4773G>A c.5546G>A (p.Gly1849Asp) c.5543G>A (p.Gly1848Asp) c.5498G>A (p.Gly1833Asp) c.4622G>A (p.Gly1541Asp) c.4391G>A (p.Gly1464Asp) | |
10 | g.94304527G>C | CA377642835 | PLCE1 | c.4580G>C (p.Gly1527Ala) c.*2047G>C (n.*2047G>C) n.2239G>C n.923G>C c.*788G>C (n.*788G>C) c.4532G>C (p.Gly1511Ala) n.9712G>C n.3177G>C c.5372G>C (p.Gly1791Ala) c.5456G>C (p.Gly1819Ala) c.5504G>C (p.Gly1835Ala) c.4478G>C (p.Gly1493Ala) c.4059G>C c.3620G>C (p.Gly1207Ala) c.*1437G>C (n.*1437G>C) c.4773G>C c.5546G>C (p.Gly1849Ala) c.5543G>C (p.Gly1848Ala) c.5498G>C (p.Gly1833Ala) c.4622G>C (p.Gly1541Ala) c.4391G>C (p.Gly1464Ala) | gnomAD v4 |
10 | g.94304527G>T | CA377642837 | PLCE1 | c.4580G>T (p.Gly1527Val) c.*2047G>T (n.*2047G>T) n.2239G>T n.923G>T c.*788G>T (n.*788G>T) c.4532G>T (p.Gly1511Val) n.9712G>T n.3177G>T c.5372G>T (p.Gly1791Val) c.5456G>T (p.Gly1819Val) c.5504G>T (p.Gly1835Val) c.4478G>T (p.Gly1493Val) c.4059G>T c.3620G>T (p.Gly1207Val) c.*1437G>T (n.*1437G>T) c.4773G>T c.5546G>T (p.Gly1849Val) c.5543G>T (p.Gly1848Val) c.5498G>T (p.Gly1833Val) c.4622G>T (p.Gly1541Val) c.4391G>T (p.Gly1464Val) | |
10 | g.94304528T>A | CA470808496 | PLCE1 | c.4581T>A (p.Gly1527=) c.*2048T>A (n.*2048T>A) n.2240T>A n.924T>A c.*789T>A (n.*789T>A) c.4533T>A (p.Gly1511=) n.9713T>A n.3178T>A c.5373T>A (p.Gly1791=) c.5457T>A (p.Gly1819=) c.5505T>A (p.Gly1835=) c.4479T>A (p.Gly1493=) c.4060T>A c.3621T>A (p.Gly1207=) c.*1438T>A (n.*1438T>A) c.4774T>A c.5547T>A (p.Gly1849=) c.5544T>A (p.Gly1848=) c.5499T>A (p.Gly1833=) c.4623T>A (p.Gly1541=) c.4392T>A (p.Gly1464=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94304528T>C | CA470808497 | PLCE1 | c.4581T>C (p.Gly1527=) c.*2048T>C (n.*2048T>C) n.2240T>C n.924T>C c.*789T>C (n.*789T>C) c.4533T>C (p.Gly1511=) n.9713T>C n.3178T>C c.5373T>C (p.Gly1791=) c.5457T>C (p.Gly1819=) c.5505T>C (p.Gly1835=) c.4479T>C (p.Gly1493=) c.4060T>C c.3621T>C (p.Gly1207=) c.*1438T>C (n.*1438T>C) c.4774T>C c.5547T>C (p.Gly1849=) c.5544T>C (p.Gly1848=) c.5499T>C (p.Gly1833=) c.4623T>C (p.Gly1541=) c.4392T>C (p.Gly1464=) | |
10 | g.94304528T>G | CA470808498 | PLCE1 | c.4581T>G (p.Gly1527=) c.*2048T>G (n.*2048T>G) n.2240T>G n.924T>G c.*789T>G (n.*789T>G) c.4533T>G (p.Gly1511=) n.9713T>G n.3178T>G c.5373T>G (p.Gly1791=) c.5457T>G (p.Gly1819=) c.5505T>G (p.Gly1835=) c.4479T>G (p.Gly1493=) c.4060T>G c.3621T>G (p.Gly1207=) c.*1438T>G (n.*1438T>G) c.4774T>G c.5547T>G (p.Gly1849=) c.5544T>G (p.Gly1848=) c.5499T>G (p.Gly1833=) c.4623T>G (p.Gly1541=) c.4392T>G (p.Gly1464=) | |
10 | g.94304528T= | CA1929000771 | PLCE1 | c.4581T= (p.Gly1527=) c.*2048T= (n.*2048T=) n.2240T= n.924T= c.*789T= (n.*789T=) c.4533T= (p.Gly1511=) n.9713T= n.3178T= c.5373T= (p.Gly1791=) c.5457T= (p.Gly1819=) c.5505T= (p.Gly1835=) c.4479T= (p.Gly1493=) c.4060T= c.3621T= (p.Gly1207=) c.*1438T= (n.*1438T=) c.4774T= c.5547T= (p.Gly1849=) c.5544T= (p.Gly1848=) c.5499T= (p.Gly1833=) c.4623T= (p.Gly1541=) c.4392T= (p.Gly1464=) | |
10 | g.94304529T>A | CA377642840 | PLCE1 | c.4582T>A (p.Cys1528Ser) c.*2049T>A (n.*2049T>A) n.2241T>A n.925T>A c.*790T>A (n.*790T>A) c.4534T>A (p.Cys1512Ser) n.9714T>A n.3179T>A c.5374T>A (p.Cys1792Ser) c.5458T>A (p.Cys1820Ser) c.5506T>A (p.Cys1836Ser) c.4480T>A (p.Cys1494Ser) c.4061T>A c.3622T>A (p.Cys1208Ser) c.*1439T>A (n.*1439T>A) c.4775T>A c.5548T>A (p.Cys1850Ser) c.5545T>A (p.Cys1849Ser) c.5500T>A (p.Cys1834Ser) c.4624T>A (p.Cys1542Ser) c.4393T>A (p.Cys1465Ser) | |
10 | g.94304529T>C | CA377642842 | PLCE1 | c.4582T>C (p.Cys1528Arg) c.*2049T>C (n.*2049T>C) n.2241T>C n.925T>C c.*790T>C (n.*790T>C) c.4534T>C (p.Cys1512Arg) n.9714T>C n.3179T>C c.5374T>C (p.Cys1792Arg) c.5458T>C (p.Cys1820Arg) c.5506T>C (p.Cys1836Arg) c.4480T>C (p.Cys1494Arg) c.4061T>C c.3622T>C (p.Cys1208Arg) c.*1439T>C (n.*1439T>C) c.4775T>C c.5548T>C (p.Cys1850Arg) c.5545T>C (p.Cys1849Arg) c.5500T>C (p.Cys1834Arg) c.4624T>C (p.Cys1542Arg) c.4393T>C (p.Cys1465Arg) | |
10 | g.94304529T>G | CA377642839 | PLCE1 | c.4582T>G (p.Cys1528Gly) c.*2049T>G (n.*2049T>G) n.2241T>G n.925T>G c.*790T>G (n.*790T>G) c.4534T>G (p.Cys1512Gly) n.9714T>G n.3179T>G c.5374T>G (p.Cys1792Gly) c.5458T>G (p.Cys1820Gly) c.5506T>G (p.Cys1836Gly) c.4480T>G (p.Cys1494Gly) c.4061T>G c.3622T>G (p.Cys1208Gly) c.*1439T>G (n.*1439T>G) c.4775T>G c.5548T>G (p.Cys1850Gly) c.5545T>G (p.Cys1849Gly) c.5500T>G (p.Cys1834Gly) c.4624T>G (p.Cys1542Gly) c.4393T>G (p.Cys1465Gly) | |
10 | g.94304530G>A | CA377642844 | PLCE1 | c.4583G>A (p.Cys1528Tyr) c.*2050G>A (n.*2050G>A) n.2242G>A n.926G>A c.*791G>A (n.*791G>A) c.4535G>A (p.Cys1512Tyr) n.9715G>A n.3180G>A c.5375G>A (p.Cys1792Tyr) c.5459G>A (p.Cys1820Tyr) c.5507G>A (p.Cys1836Tyr) c.4481G>A (p.Cys1494Tyr) c.4062G>A c.3623G>A (p.Cys1208Tyr) c.*1440G>A (n.*1440G>A) c.4776G>A c.5549G>A (p.Cys1850Tyr) c.5546G>A (p.Cys1849Tyr) c.5501G>A (p.Cys1834Tyr) c.4625G>A (p.Cys1542Tyr) c.4394G>A (p.Cys1465Tyr) | |
10 | g.94304530G>C | CA377642848 | PLCE1 | c.4583G>C (p.Cys1528Ser) c.*2050G>C (n.*2050G>C) n.2242G>C n.926G>C c.*791G>C (n.*791G>C) c.4535G>C (p.Cys1512Ser) n.9715G>C n.3180G>C c.5375G>C (p.Cys1792Ser) c.5459G>C (p.Cys1820Ser) c.5507G>C (p.Cys1836Ser) c.4481G>C (p.Cys1494Ser) c.4062G>C c.3623G>C (p.Cys1208Ser) c.*1440G>C (n.*1440G>C) c.4776G>C c.5549G>C (p.Cys1850Ser) c.5546G>C (p.Cys1849Ser) c.5501G>C (p.Cys1834Ser) c.4625G>C (p.Cys1542Ser) c.4394G>C (p.Cys1465Ser) | gnomAD v4 |
10 | g.94304530G>T | CA377642846 | PLCE1 | c.4583G>T (p.Cys1528Phe) c.*2050G>T (n.*2050G>T) n.2242G>T n.926G>T c.*791G>T (n.*791G>T) c.4535G>T (p.Cys1512Phe) n.9715G>T n.3180G>T c.5375G>T (p.Cys1792Phe) c.5459G>T (p.Cys1820Phe) c.5507G>T (p.Cys1836Phe) c.4481G>T (p.Cys1494Phe) c.4062G>T c.3623G>T (p.Cys1208Phe) c.*1440G>T (n.*1440G>T) c.4776G>T c.5549G>T (p.Cys1850Phe) c.5546G>T (p.Cys1849Phe) c.5501G>T (p.Cys1834Phe) c.4625G>T (p.Cys1542Phe) c.4394G>T (p.Cys1465Phe) | |
10 | g.94304531T>A | CA377642850 | PLCE1 | c.4584T>A (p.Cys1528Ter) c.*2051T>A (n.*2051T>A) n.2243T>A n.927T>A c.*792T>A (n.*792T>A) c.4536T>A (p.Cys1512Ter) n.9716T>A n.3181T>A c.5376T>A (p.Cys1792Ter) c.5460T>A (p.Cys1820Ter) c.5508T>A (p.Cys1836Ter) c.4482T>A (p.Cys1494Ter) c.4063T>A c.3624T>A (p.Cys1208Ter) c.*1441T>A (n.*1441T>A) c.4777T>A c.5550T>A (p.Cys1850Ter) c.5547T>A (p.Cys1849Ter) c.5502T>A (p.Cys1834Ter) c.4626T>A (p.Cys1542Ter) c.4395T>A (p.Cys1465Ter) | |
10 | g.94304531T>C | CA470808502 | PLCE1 | c.4584T>C (p.Cys1528=) c.*2051T>C (n.*2051T>C) n.2243T>C n.927T>C c.*792T>C (n.*792T>C) c.4536T>C (p.Cys1512=) n.9716T>C n.3181T>C c.5376T>C (p.Cys1792=) c.5460T>C (p.Cys1820=) c.5508T>C (p.Cys1836=) c.4482T>C (p.Cys1494=) c.4063T>C c.3624T>C (p.Cys1208=) c.*1441T>C (n.*1441T>C) c.4777T>C c.5550T>C (p.Cys1850=) c.5547T>C (p.Cys1849=) c.5502T>C (p.Cys1834=) c.4626T>C (p.Cys1542=) c.4395T>C (p.Cys1465=) | gnomAD v4 |
10 | g.94304531T>G | CA377642851 | PLCE1 | c.4584T>G (p.Cys1528Trp) c.*2051T>G (n.*2051T>G) n.2243T>G n.927T>G c.*792T>G (n.*792T>G) c.4536T>G (p.Cys1512Trp) n.9716T>G n.3181T>G c.5376T>G (p.Cys1792Trp) c.5460T>G (p.Cys1820Trp) c.5508T>G (p.Cys1836Trp) c.4482T>G (p.Cys1494Trp) c.4063T>G c.3624T>G (p.Cys1208Trp) c.*1441T>G (n.*1441T>G) c.4777T>G c.5550T>G (p.Cys1850Trp) c.5547T>G (p.Cys1849Trp) c.5502T>G (p.Cys1834Trp) c.4626T>G (p.Cys1542Trp) c.4395T>G (p.Cys1465Trp) | |
10 | g.94304532G>A | CA377642854 | PLCE1 | c.4585G>A (p.Gly1529Ser) c.*2052G>A (n.*2052G>A) n.2244G>A n.928G>A c.*793G>A (n.*793G>A) c.4537G>A (p.Gly1513Ser) n.9717G>A n.3182G>A c.5377G>A (p.Gly1793Ser) c.5461G>A (p.Gly1821Ser) c.5509G>A (p.Gly1837Ser) c.4483G>A (p.Gly1495Ser) c.4064G>A c.3625G>A (p.Gly1209Ser) c.*1442G>A (n.*1442G>A) c.4778G>A c.5551G>A (p.Gly1851Ser) c.5548G>A (p.Gly1850Ser) c.5503G>A (p.Gly1835Ser) c.4627G>A (p.Gly1543Ser) c.4396G>A (p.Gly1466Ser) | |
10 | g.94304532G>C | CA377642855 | PLCE1 | c.4585G>C (p.Gly1529Arg) c.*2052G>C (n.*2052G>C) n.2244G>C n.928G>C c.*793G>C (n.*793G>C) c.4537G>C (p.Gly1513Arg) n.9717G>C n.3182G>C c.5377G>C (p.Gly1793Arg) c.5461G>C (p.Gly1821Arg) c.5509G>C (p.Gly1837Arg) c.4483G>C (p.Gly1495Arg) c.4064G>C c.3625G>C (p.Gly1209Arg) c.*1442G>C (n.*1442G>C) c.4778G>C c.5551G>C (p.Gly1851Arg) c.5548G>C (p.Gly1850Arg) c.5503G>C (p.Gly1835Arg) c.4627G>C (p.Gly1543Arg) c.4396G>C (p.Gly1466Arg) | gnomAD v4 |
10 | g.94304532G>T | CA377642857 | PLCE1 | c.4585G>T (p.Gly1529Cys) c.*2052G>T (n.*2052G>T) n.2244G>T n.928G>T c.*793G>T (n.*793G>T) c.4537G>T (p.Gly1513Cys) n.9717G>T n.3182G>T c.5377G>T (p.Gly1793Cys) c.5461G>T (p.Gly1821Cys) c.5509G>T (p.Gly1837Cys) c.4483G>T (p.Gly1495Cys) c.4064G>T c.3625G>T (p.Gly1209Cys) c.*1442G>T (n.*1442G>T) c.4778G>T c.5551G>T (p.Gly1851Cys) c.5548G>T (p.Gly1850Cys) c.5503G>T (p.Gly1835Cys) c.4627G>T (p.Gly1543Cys) c.4396G>T (p.Gly1466Cys) | |
10 | g.94304533G>A | CA377642860 | PLCE1 | c.4586G>A (p.Gly1529Asp) c.*2053G>A (n.*2053G>A) n.2245G>A n.929G>A c.*794G>A (n.*794G>A) c.4538G>A (p.Gly1513Asp) n.9718G>A n.3183G>A c.5378G>A (p.Gly1793Asp) c.5462G>A (p.Gly1821Asp) c.5510G>A (p.Gly1837Asp) c.4484G>A (p.Gly1495Asp) c.4065G>A c.3626G>A (p.Gly1209Asp) c.*1443G>A (n.*1443G>A) c.4779G>A c.5552G>A (p.Gly1851Asp) c.5549G>A (p.Gly1850Asp) c.5504G>A (p.Gly1835Asp) c.4628G>A (p.Gly1543Asp) c.4397G>A (p.Gly1466Asp) | ClinVar dbSNP gnomAD v4 |
10 | g.94304533G>C | CA377642861 | PLCE1 | c.4586G>C (p.Gly1529Ala) c.*2053G>C (n.*2053G>C) n.2245G>C n.929G>C c.*794G>C (n.*794G>C) c.4538G>C (p.Gly1513Ala) n.9718G>C n.3183G>C c.5378G>C (p.Gly1793Ala) c.5462G>C (p.Gly1821Ala) c.5510G>C (p.Gly1837Ala) c.4484G>C (p.Gly1495Ala) c.4065G>C c.3626G>C (p.Gly1209Ala) c.*1443G>C (n.*1443G>C) c.4779G>C c.5552G>C (p.Gly1851Ala) c.5549G>C (p.Gly1850Ala) c.5504G>C (p.Gly1835Ala) c.4628G>C (p.Gly1543Ala) c.4397G>C (p.Gly1466Ala) | |
10 | g.94304533G= | CA1929000772 | PLCE1 | c.4586G= (p.Gly1529=) c.*2053G= (n.*2053G=) n.2245G= n.929G= c.*794G= (n.*794G=) c.4538G= (p.Gly1513=) n.9718G= n.3183G= c.5378G= (p.Gly1793=) c.5462G= (p.Gly1821=) c.5510G= (p.Gly1837=) c.4484G= (p.Gly1495=) c.4065G= c.3626G= (p.Gly1209=) c.*1443G= (n.*1443G=) c.4779G= c.5552G= (p.Gly1851=) c.5549G= (p.Gly1850=) c.5504G= (p.Gly1835=) c.4628G= (p.Gly1543=) c.4397G= (p.Gly1466=) | |
10 | g.94304533G>T | CA377642863 | PLCE1 | c.4586G>T (p.Gly1529Val) c.*2053G>T (n.*2053G>T) n.2245G>T n.929G>T c.*794G>T (n.*794G>T) c.4538G>T (p.Gly1513Val) n.9718G>T n.3183G>T c.5378G>T (p.Gly1793Val) c.5462G>T (p.Gly1821Val) c.5510G>T (p.Gly1837Val) c.4484G>T (p.Gly1495Val) c.4065G>T c.3626G>T (p.Gly1209Val) c.*1443G>T (n.*1443G>T) c.4779G>T c.5552G>T (p.Gly1851Val) c.5549G>T (p.Gly1850Val) c.5504G>T (p.Gly1835Val) c.4628G>T (p.Gly1543Val) c.4397G>T (p.Gly1466Val) | |
10 | g.94304534T>A | CA470808508 | PLCE1 | c.4587T>A (p.Gly1529=) c.*2054T>A (n.*2054T>A) n.2246T>A n.930T>A c.*795T>A (n.*795T>A) c.4539T>A (p.Gly1513=) n.9719T>A n.3184T>A c.5379T>A (p.Gly1793=) c.5463T>A (p.Gly1821=) c.5511T>A (p.Gly1837=) c.4485T>A (p.Gly1495=) c.4066T>A c.3627T>A (p.Gly1209=) c.*1444T>A (n.*1444T>A) c.4780T>A c.5553T>A (p.Gly1851=) c.5550T>A (p.Gly1850=) c.5505T>A (p.Gly1835=) c.4629T>A (p.Gly1543=) c.4398T>A (p.Gly1466=) | |
10 | g.94304534T>C | CA470808507 | PLCE1 | c.4587T>C (p.Gly1529=) c.*2054T>C (n.*2054T>C) n.2246T>C n.930T>C c.*795T>C (n.*795T>C) c.4539T>C (p.Gly1513=) n.9719T>C n.3184T>C c.5379T>C (p.Gly1793=) c.5463T>C (p.Gly1821=) c.5511T>C (p.Gly1837=) c.4485T>C (p.Gly1495=) c.4066T>C c.3627T>C (p.Gly1209=) c.*1444T>C (n.*1444T>C) c.4780T>C c.5553T>C (p.Gly1851=) c.5550T>C (p.Gly1850=) c.5505T>C (p.Gly1835=) c.4629T>C (p.Gly1543=) c.4398T>C (p.Gly1466=) | |
10 | g.94304534T>G | CA470808506 | PLCE1 | c.4587T>G (p.Gly1529=) c.*2054T>G (n.*2054T>G) n.2246T>G n.930T>G c.*795T>G (n.*795T>G) c.4539T>G (p.Gly1513=) n.9719T>G n.3184T>G c.5379T>G (p.Gly1793=) c.5463T>G (p.Gly1821=) c.5511T>G (p.Gly1837=) c.4485T>G (p.Gly1495=) c.4066T>G c.3627T>G (p.Gly1209=) c.*1444T>G (n.*1444T>G) c.4780T>G c.5553T>G (p.Gly1851=) c.5550T>G (p.Gly1850=) c.5505T>G (p.Gly1835=) c.4629T>G (p.Gly1543=) c.4398T>G (p.Gly1466=) | |
10 | g.94304535T>A | CA377642866 | PLCE1 | c.4588T>A (p.Tyr1530Asn) c.*2055T>A (n.*2055T>A) n.2247T>A n.931T>A c.*796T>A (n.*796T>A) c.4540T>A (p.Tyr1514Asn) n.9720T>A n.3185T>A c.5380T>A (p.Tyr1794Asn) c.5464T>A (p.Tyr1822Asn) c.5512T>A (p.Tyr1838Asn) c.4486T>A (p.Tyr1496Asn) c.4067T>A c.3628T>A (p.Tyr1210Asn) c.*1445T>A (n.*1445T>A) c.4781T>A c.5554T>A (p.Tyr1852Asn) c.5551T>A (p.Tyr1851Asn) c.5506T>A (p.Tyr1836Asn) c.4630T>A (p.Tyr1544Asn) c.4399T>A (p.Tyr1467Asn) | |
10 | g.94304535T>C | CA377642868 | PLCE1 | c.4588T>C (p.Tyr1530His) c.*2055T>C (n.*2055T>C) n.2247T>C n.931T>C c.*796T>C (n.*796T>C) c.4540T>C (p.Tyr1514His) n.9720T>C n.3185T>C c.5380T>C (p.Tyr1794His) c.5464T>C (p.Tyr1822His) c.5512T>C (p.Tyr1838His) c.4486T>C (p.Tyr1496His) c.4067T>C c.3628T>C (p.Tyr1210His) c.*1445T>C (n.*1445T>C) c.4781T>C c.5554T>C (p.Tyr1852His) c.5551T>C (p.Tyr1851His) c.5506T>C (p.Tyr1836His) c.4630T>C (p.Tyr1544His) c.4399T>C (p.Tyr1467His) | |
10 | g.94304535T>G | CA377642870 | PLCE1 | c.4588T>G (p.Tyr1530Asp) c.*2055T>G (n.*2055T>G) n.2247T>G n.931T>G c.*796T>G (n.*796T>G) c.4540T>G (p.Tyr1514Asp) n.9720T>G n.3185T>G c.5380T>G (p.Tyr1794Asp) c.5464T>G (p.Tyr1822Asp) c.5512T>G (p.Tyr1838Asp) c.4486T>G (p.Tyr1496Asp) c.4067T>G c.3628T>G (p.Tyr1210Asp) c.*1445T>G (n.*1445T>G) c.4781T>G c.5554T>G (p.Tyr1852Asp) c.5551T>G (p.Tyr1851Asp) c.5506T>G (p.Tyr1836Asp) c.4630T>G (p.Tyr1544Asp) c.4399T>G (p.Tyr1467Asp) | |
10 | g.94304536A>C | CA377642871 | PLCE1 | c.4589A>C (p.Tyr1530Ser) c.*2056A>C (n.*2056A>C) n.2248A>C n.932A>C c.*797A>C (n.*797A>C) c.4541A>C (p.Tyr1514Ser) n.9721A>C n.3186A>C c.5381A>C (p.Tyr1794Ser) c.5465A>C (p.Tyr1822Ser) c.5513A>C (p.Tyr1838Ser) c.4487A>C (p.Tyr1496Ser) c.4068A>C c.3629A>C (p.Tyr1210Ser) c.*1446A>C (n.*1446A>C) c.4782A>C c.5555A>C (p.Tyr1852Ser) c.5552A>C (p.Tyr1851Ser) c.5507A>C (p.Tyr1836Ser) c.4631A>C (p.Tyr1544Ser) c.4400A>C (p.Tyr1467Ser) | |
10 | g.94304536A>G | CA377642872 | PLCE1 | c.4589A>G (p.Tyr1530Cys) c.*2056A>G (n.*2056A>G) n.2248A>G n.932A>G c.*797A>G (n.*797A>G) c.4541A>G (p.Tyr1514Cys) n.9721A>G n.3186A>G c.5381A>G (p.Tyr1794Cys) c.5465A>G (p.Tyr1822Cys) c.5513A>G (p.Tyr1838Cys) c.4487A>G (p.Tyr1496Cys) c.4068A>G c.3629A>G (p.Tyr1210Cys) c.*1446A>G (n.*1446A>G) c.4782A>G c.5555A>G (p.Tyr1852Cys) c.5552A>G (p.Tyr1851Cys) c.5507A>G (p.Tyr1836Cys) c.4631A>G (p.Tyr1544Cys) c.4400A>G (p.Tyr1467Cys) | |
10 | g.94304536A>T | CA377642875 | PLCE1 | c.4589A>T (p.Tyr1530Phe) c.*2056A>T (n.*2056A>T) n.2248A>T n.932A>T c.*797A>T (n.*797A>T) c.4541A>T (p.Tyr1514Phe) n.9721A>T n.3186A>T c.5381A>T (p.Tyr1794Phe) c.5465A>T (p.Tyr1822Phe) c.5513A>T (p.Tyr1838Phe) c.4487A>T (p.Tyr1496Phe) c.4068A>T c.3629A>T (p.Tyr1210Phe) c.*1446A>T (n.*1446A>T) c.4782A>T c.5555A>T (p.Tyr1852Phe) c.5552A>T (p.Tyr1851Phe) c.5507A>T (p.Tyr1836Phe) c.4631A>T (p.Tyr1544Phe) c.4400A>T (p.Tyr1467Phe) | |
10 | g.94304537T>A | CA377642879 | PLCE1 | c.4590T>A (p.Tyr1530Ter) c.*2057T>A (n.*2057T>A) n.2249T>A n.933T>A c.*798T>A (n.*798T>A) c.4542T>A (p.Tyr1514Ter) n.9722T>A n.3187T>A c.5382T>A (p.Tyr1794Ter) c.5466T>A (p.Tyr1822Ter) c.5514T>A (p.Tyr1838Ter) c.4488T>A (p.Tyr1496Ter) c.4069T>A c.3630T>A (p.Tyr1210Ter) c.*1447T>A (n.*1447T>A) c.4783T>A c.5556T>A (p.Tyr1852Ter) c.5553T>A (p.Tyr1851Ter) c.5508T>A (p.Tyr1836Ter) c.4632T>A (p.Tyr1544Ter) c.4401T>A (p.Tyr1467Ter) | |
10 | g.94304537T>C | CA470808575 | PLCE1 | c.4590T>C (p.Tyr1530=) c.*2057T>C (n.*2057T>C) n.2249T>C n.933T>C c.*798T>C (n.*798T>C) c.4542T>C (p.Tyr1514=) n.9722T>C n.3187T>C c.5382T>C (p.Tyr1794=) c.5466T>C (p.Tyr1822=) c.5514T>C (p.Tyr1838=) c.4488T>C (p.Tyr1496=) c.4069T>C c.3630T>C (p.Tyr1210=) c.*1447T>C (n.*1447T>C) c.4783T>C c.5556T>C (p.Tyr1852=) c.5553T>C (p.Tyr1851=) c.5508T>C (p.Tyr1836=) c.4632T>C (p.Tyr1544=) c.4401T>C (p.Tyr1467=) | |
10 | g.94304537T>G | CA377642877 | PLCE1 | c.4590T>G (p.Tyr1530Ter) c.*2057T>G (n.*2057T>G) n.2249T>G n.933T>G c.*798T>G (n.*798T>G) c.4542T>G (p.Tyr1514Ter) n.9722T>G n.3187T>G c.5382T>G (p.Tyr1794Ter) c.5466T>G (p.Tyr1822Ter) c.5514T>G (p.Tyr1838Ter) c.4488T>G (p.Tyr1496Ter) c.4069T>G c.3630T>G (p.Tyr1210Ter) c.*1447T>G (n.*1447T>G) c.4783T>G c.5556T>G (p.Tyr1852Ter) c.5553T>G (p.Tyr1851Ter) c.5508T>G (p.Tyr1836Ter) c.4632T>G (p.Tyr1544Ter) c.4401T>G (p.Tyr1467Ter) | |
10 | g.94304538G>A | CA377642881 | PLCE1 | c.4591G>A (p.Val1531Ile) c.*2058G>A (n.*2058G>A) n.2250G>A n.934G>A c.*799G>A (n.*799G>A) c.4543G>A (p.Val1515Ile) n.9723G>A n.3188G>A c.5383G>A (p.Val1795Ile) c.5467G>A (p.Val1823Ile) c.5515G>A (p.Val1839Ile) c.4489G>A (p.Val1497Ile) c.4070G>A c.3631G>A (p.Val1211Ile) c.*1448G>A (n.*1448G>A) c.4784G>A c.5557G>A (p.Val1853Ile) c.5554G>A (p.Val1852Ile) c.5509G>A (p.Val1837Ile) c.4633G>A (p.Val1545Ile) c.4402G>A (p.Val1468Ile) | gnomAD v4 |
10 | g.94304538G>C | CA377642883 | PLCE1 | c.4591G>C (p.Val1531Leu) c.*2058G>C (n.*2058G>C) n.2250G>C n.934G>C c.*799G>C (n.*799G>C) c.4543G>C (p.Val1515Leu) n.9723G>C n.3188G>C c.5383G>C (p.Val1795Leu) c.5467G>C (p.Val1823Leu) c.5515G>C (p.Val1839Leu) c.4489G>C (p.Val1497Leu) c.4070G>C c.3631G>C (p.Val1211Leu) c.*1448G>C (n.*1448G>C) c.4784G>C c.5557G>C (p.Val1853Leu) c.5554G>C (p.Val1852Leu) c.5509G>C (p.Val1837Leu) c.4633G>C (p.Val1545Leu) c.4402G>C (p.Val1468Leu) | |
10 | g.94304538G>T | CA377642885 | PLCE1 | c.4591G>T (p.Val1531Leu) c.*2058G>T (n.*2058G>T) n.2250G>T n.934G>T c.*799G>T (n.*799G>T) c.4543G>T (p.Val1515Leu) n.9723G>T n.3188G>T c.5383G>T (p.Val1795Leu) c.5467G>T (p.Val1823Leu) c.5515G>T (p.Val1839Leu) c.4489G>T (p.Val1497Leu) c.4070G>T c.3631G>T (p.Val1211Leu) c.*1448G>T (n.*1448G>T) c.4784G>T c.5557G>T (p.Val1853Leu) c.5554G>T (p.Val1852Leu) c.5509G>T (p.Val1837Leu) c.4633G>T (p.Val1545Leu) c.4402G>T (p.Val1468Leu) | |
10 | g.94304539T>A | CA377642887 | PLCE1 | c.4592T>A (p.Val1531Glu) c.*2059T>A (n.*2059T>A) n.2251T>A n.935T>A c.*800T>A (n.*800T>A) c.4544T>A (p.Val1515Glu) n.9724T>A n.3189T>A c.5384T>A (p.Val1795Glu) c.5468T>A (p.Val1823Glu) c.5516T>A (p.Val1839Glu) c.4490T>A (p.Val1497Glu) c.4071T>A c.3632T>A (p.Val1211Glu) c.*1449T>A (n.*1449T>A) c.4785T>A c.5558T>A (p.Val1853Glu) c.5555T>A (p.Val1852Glu) c.5510T>A (p.Val1837Glu) c.4634T>A (p.Val1545Glu) c.4403T>A (p.Val1468Glu) | |
10 | g.94304539T>C | CA377642889 | PLCE1 | c.4592T>C (p.Val1531Ala) c.*2059T>C (n.*2059T>C) n.2251T>C n.935T>C c.*800T>C (n.*800T>C) c.4544T>C (p.Val1515Ala) n.9724T>C n.3189T>C c.5384T>C (p.Val1795Ala) c.5468T>C (p.Val1823Ala) c.5516T>C (p.Val1839Ala) c.4490T>C (p.Val1497Ala) c.4071T>C c.3632T>C (p.Val1211Ala) c.*1449T>C (n.*1449T>C) c.4785T>C c.5558T>C (p.Val1853Ala) c.5555T>C (p.Val1852Ala) c.5510T>C (p.Val1837Ala) c.4634T>C (p.Val1545Ala) c.4403T>C (p.Val1468Ala) | gnomAD v4 |
10 | g.94304539T>G | CA377642891 | PLCE1 | c.4592T>G (p.Val1531Gly) c.*2059T>G (n.*2059T>G) n.2251T>G n.935T>G c.*800T>G (n.*800T>G) c.4544T>G (p.Val1515Gly) n.9724T>G n.3189T>G c.5384T>G (p.Val1795Gly) c.5468T>G (p.Val1823Gly) c.5516T>G (p.Val1839Gly) c.4490T>G (p.Val1497Gly) c.4071T>G c.3632T>G (p.Val1211Gly) c.*1449T>G (n.*1449T>G) c.4785T>G c.5558T>G (p.Val1853Gly) c.5555T>G (p.Val1852Gly) c.5510T>G (p.Val1837Gly) c.4634T>G (p.Val1545Gly) c.4403T>G (p.Val1468Gly) | |
10 | g.94304540A= | CA1929000773 | PLCE1 | c.4593A= (p.Val1531=) c.*2060A= (n.*2060A=) n.2252A= n.936A= c.*801A= (n.*801A=) c.4545A= (p.Val1515=) n.9725A= n.3190A= c.5385A= (p.Val1795=) c.5469A= (p.Val1823=) c.5517A= (p.Val1839=) c.4491A= (p.Val1497=) c.4072A= c.3633A= (p.Val1211=) c.*1450A= (n.*1450A=) c.4786A= c.5559A= (p.Val1853=) c.5556A= (p.Val1852=) c.5511A= (p.Val1837=) c.4635A= (p.Val1545=) c.4404A= (p.Val1468=) | |
10 | g.94304540A>C | CA470808576 | PLCE1 | c.4593A>C (p.Val1531=) c.*2060A>C (n.*2060A>C) n.2252A>C n.936A>C c.*801A>C (n.*801A>C) c.4545A>C (p.Val1515=) n.9725A>C n.3190A>C c.5385A>C (p.Val1795=) c.5469A>C (p.Val1823=) c.5517A>C (p.Val1839=) c.4491A>C (p.Val1497=) c.4072A>C c.3633A>C (p.Val1211=) c.*1450A>C (n.*1450A>C) c.4786A>C c.5559A>C (p.Val1853=) c.5556A>C (p.Val1852=) c.5511A>C (p.Val1837=) c.4635A>C (p.Val1545=) c.4404A>C (p.Val1468=) | |
10 | g.94304540A>G | CA470808577 | PLCE1 | c.4593A>G (p.Val1531=) c.*2060A>G (n.*2060A>G) n.2252A>G n.936A>G c.*801A>G (n.*801A>G) c.4545A>G (p.Val1515=) n.9725A>G n.3190A>G c.5385A>G (p.Val1795=) c.5469A>G (p.Val1823=) c.5517A>G (p.Val1839=) c.4491A>G (p.Val1497=) c.4072A>G c.3633A>G (p.Val1211=) c.*1450A>G (n.*1450A>G) c.4786A>G c.5559A>G (p.Val1853=) c.5556A>G (p.Val1852=) c.5511A>G (p.Val1837=) c.4635A>G (p.Val1545=) c.4404A>G (p.Val1468=) | |
10 | g.94304540A>T | CA5613378 | PLCE1 | c.4593A>T (p.Val1531=) c.*2060A>T (n.*2060A>T) n.2252A>T n.936A>T c.*801A>T (n.*801A>T) c.4545A>T (p.Val1515=) n.9725A>T n.3190A>T c.5385A>T (p.Val1795=) c.5469A>T (p.Val1823=) c.5517A>T (p.Val1839=) c.4491A>T (p.Val1497=) c.4072A>T c.3633A>T (p.Val1211=) c.*1450A>T (n.*1450A>T) c.4786A>T c.5559A>T (p.Val1853=) c.5556A>T (p.Val1852=) c.5511A>T (p.Val1837=) c.4635A>T (p.Val1545=) c.4404A>T (p.Val1468=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94304541T>A | CA377642895 | PLCE1 | c.4594T>A (p.Leu1532Met) c.*2061T>A (n.*2061T>A) n.2253T>A n.937T>A c.*802T>A (n.*802T>A) c.4546T>A (p.Leu1516Met) n.9726T>A n.3191T>A c.5386T>A (p.Leu1796Met) c.5470T>A (p.Leu1824Met) c.5518T>A (p.Leu1840Met) c.4492T>A (p.Leu1498Met) c.4073T>A c.3634T>A (p.Leu1212Met) c.*1451T>A (n.*1451T>A) c.4787T>A c.5560T>A (p.Leu1854Met) c.5557T>A (p.Leu1853Met) c.5512T>A (p.Leu1838Met) c.4636T>A (p.Leu1546Met) c.4405T>A (p.Leu1469Met) | |
10 | g.94304541T>C | CA470808578 | PLCE1 | c.4594T>C (p.Leu1532=) c.*2061T>C (n.*2061T>C) n.2253T>C n.937T>C c.*802T>C (n.*802T>C) c.4546T>C (p.Leu1516=) n.9726T>C n.3191T>C c.5386T>C (p.Leu1796=) c.5470T>C (p.Leu1824=) c.5518T>C (p.Leu1840=) c.4492T>C (p.Leu1498=) c.4073T>C c.3634T>C (p.Leu1212=) c.*1451T>C (n.*1451T>C) c.4787T>C c.5560T>C (p.Leu1854=) c.5557T>C (p.Leu1853=) c.5512T>C (p.Leu1838=) c.4636T>C (p.Leu1546=) c.4405T>C (p.Leu1469=) | gnomAD v4 |
10 | g.94304541T>G | CA377642896 | PLCE1 | c.4594T>G (p.Leu1532Val) c.*2061T>G (n.*2061T>G) n.2253T>G n.937T>G c.*802T>G (n.*802T>G) c.4546T>G (p.Leu1516Val) n.9726T>G n.3191T>G c.5386T>G (p.Leu1796Val) c.5470T>G (p.Leu1824Val) c.5518T>G (p.Leu1840Val) c.4492T>G (p.Leu1498Val) c.4073T>G c.3634T>G (p.Leu1212Val) c.*1451T>G (n.*1451T>G) c.4787T>G c.5560T>G (p.Leu1854Val) c.5557T>G (p.Leu1853Val) c.5512T>G (p.Leu1838Val) c.4636T>G (p.Leu1546Val) c.4405T>G (p.Leu1469Val) | ClinVar dbSNP |
10 | g.94304542T>A | CA377642899 | PLCE1 | c.4595T>A (p.Leu1532Ter) c.*2062T>A (n.*2062T>A) n.2254T>A n.938T>A c.*803T>A (n.*803T>A) c.4547T>A (p.Leu1516Ter) n.9727T>A n.3192T>A c.5387T>A (p.Leu1796Ter) c.5471T>A (p.Leu1824Ter) c.5519T>A (p.Leu1840Ter) c.4493T>A (p.Leu1498Ter) c.4074T>A c.3635T>A (p.Leu1212Ter) c.*1452T>A (n.*1452T>A) c.4788T>A c.5561T>A (p.Leu1854Ter) c.5558T>A (p.Leu1853Ter) c.5513T>A (p.Leu1838Ter) c.4637T>A (p.Leu1546Ter) c.4406T>A (p.Leu1469Ter) | |
10 | g.94304542T>C | CA377642901 | PLCE1 | c.4595T>C (p.Leu1532Ser) c.*2062T>C (n.*2062T>C) n.2254T>C n.938T>C c.*803T>C (n.*803T>C) c.4547T>C (p.Leu1516Ser) n.9727T>C n.3192T>C c.5387T>C (p.Leu1796Ser) c.5471T>C (p.Leu1824Ser) c.5519T>C (p.Leu1840Ser) c.4493T>C (p.Leu1498Ser) c.4074T>C c.3635T>C (p.Leu1212Ser) c.*1452T>C (n.*1452T>C) c.4788T>C c.5561T>C (p.Leu1854Ser) c.5558T>C (p.Leu1853Ser) c.5513T>C (p.Leu1838Ser) c.4637T>C (p.Leu1546Ser) c.4406T>C (p.Leu1469Ser) | |
10 | g.94304542T>G | CA377642903 | PLCE1 | c.4595T>G (p.Leu1532Trp) c.*2062T>G (n.*2062T>G) n.2254T>G n.938T>G c.*803T>G (n.*803T>G) c.4547T>G (p.Leu1516Trp) n.9727T>G n.3192T>G c.5387T>G (p.Leu1796Trp) c.5471T>G (p.Leu1824Trp) c.5519T>G (p.Leu1840Trp) c.4493T>G (p.Leu1498Trp) c.4074T>G c.3635T>G (p.Leu1212Trp) c.*1452T>G (n.*1452T>G) c.4788T>G c.5561T>G (p.Leu1854Trp) c.5558T>G (p.Leu1853Trp) c.5513T>G (p.Leu1838Trp) c.4637T>G (p.Leu1546Trp) c.4406T>G (p.Leu1469Trp) | |
10 | g.94304543G>A | CA470808581 | PLCE1 | c.4596G>A (p.Leu1532=) c.*2063G>A (n.*2063G>A) n.2255G>A n.939G>A c.*804G>A (n.*804G>A) c.4548G>A (p.Leu1516=) n.9728G>A n.3193G>A c.5388G>A (p.Leu1796=) c.5472G>A (p.Leu1824=) c.5520G>A (p.Leu1840=) c.4494G>A (p.Leu1498=) c.4075G>A c.3636G>A (p.Leu1212=) c.*1453G>A (n.*1453G>A) c.4789G>A c.5562G>A (p.Leu1854=) c.5559G>A (p.Leu1853=) c.5514G>A (p.Leu1838=) c.4638G>A (p.Leu1546=) c.4407G>A (p.Leu1469=) | |
10 | g.94304543G>C | CA377642905 | PLCE1 | c.4596G>C (p.Leu1532Phe) c.*2063G>C (n.*2063G>C) n.2255G>C n.939G>C c.*804G>C (n.*804G>C) c.4548G>C (p.Leu1516Phe) n.9728G>C n.3193G>C c.5388G>C (p.Leu1796Phe) c.5472G>C (p.Leu1824Phe) c.5520G>C (p.Leu1840Phe) c.4494G>C (p.Leu1498Phe) c.4075G>C c.3636G>C (p.Leu1212Phe) c.*1453G>C (n.*1453G>C) c.4789G>C c.5562G>C (p.Leu1854Phe) c.5559G>C (p.Leu1853Phe) c.5514G>C (p.Leu1838Phe) c.4638G>C (p.Leu1546Phe) c.4407G>C (p.Leu1469Phe) | COSMIC |
10 | g.94304543G= | CA1929000774 | PLCE1 | c.4596G= (p.Leu1532=) c.*2063G= (n.*2063G=) n.2255G= n.939G= c.*804G= (n.*804G=) c.4548G= (p.Leu1516=) n.9728G= n.3193G= c.5388G= (p.Leu1796=) c.5472G= (p.Leu1824=) c.5520G= (p.Leu1840=) c.4494G= (p.Leu1498=) c.4075G= c.3636G= (p.Leu1212=) c.*1453G= (n.*1453G=) c.4789G= c.5562G= (p.Leu1854=) c.5559G= (p.Leu1853=) c.5514G= (p.Leu1838=) c.4638G= (p.Leu1546=) c.4407G= (p.Leu1469=) | |
10 | g.94304543G>T | CA211603915 | PLCE1 | c.4596G>T (p.Leu1532Phe) c.*2063G>T (n.*2063G>T) n.2255G>T n.939G>T c.*804G>T (n.*804G>T) c.4548G>T (p.Leu1516Phe) n.9728G>T n.3193G>T c.5388G>T (p.Leu1796Phe) c.5472G>T (p.Leu1824Phe) c.5520G>T (p.Leu1840Phe) c.4494G>T (p.Leu1498Phe) c.4075G>T c.3636G>T (p.Leu1212Phe) c.*1453G>T (n.*1453G>T) c.4789G>T c.5562G>T (p.Leu1854Phe) c.5559G>T (p.Leu1853Phe) c.5514G>T (p.Leu1838Phe) c.4638G>T (p.Leu1546Phe) c.4407G>T (p.Leu1469Phe) | dbSNP |
10 | g.94304544A>C | CA377642907 | PLCE1 | c.4597A>C (p.Lys1533Gln) c.*2064A>C (n.*2064A>C) n.2256A>C n.940A>C c.*805A>C (n.*805A>C) c.4549A>C (p.Lys1517Gln) n.9729A>C n.3194A>C c.5389A>C (p.Lys1797Gln) c.5473A>C (p.Lys1825Gln) c.5521A>C (p.Lys1841Gln) c.4495A>C (p.Lys1499Gln) c.4076A>C c.3637A>C (p.Lys1213Gln) c.*1454A>C (n.*1454A>C) c.4790A>C c.5563A>C (p.Lys1855Gln) c.5560A>C (p.Lys1854Gln) c.5515A>C (p.Lys1839Gln) c.4639A>C (p.Lys1547Gln) c.4408A>C (p.Lys1470Gln) | |
10 | g.94304544A>G | CA377642909 | PLCE1 | c.4597A>G (p.Lys1533Glu) c.*2064A>G (n.*2064A>G) n.2256A>G n.940A>G c.*805A>G (n.*805A>G) c.4549A>G (p.Lys1517Glu) n.9729A>G n.3194A>G c.5389A>G (p.Lys1797Glu) c.5473A>G (p.Lys1825Glu) c.5521A>G (p.Lys1841Glu) c.4495A>G (p.Lys1499Glu) c.4076A>G c.3637A>G (p.Lys1213Glu) c.*1454A>G (n.*1454A>G) c.4790A>G c.5563A>G (p.Lys1855Glu) c.5560A>G (p.Lys1854Glu) c.5515A>G (p.Lys1839Glu) c.4639A>G (p.Lys1547Glu) c.4408A>G (p.Lys1470Glu) | ClinVar dbSNP |
10 | g.94304544A>T | CA377642911 | PLCE1 | c.4597A>T (p.Lys1533Ter) c.*2064A>T (n.*2064A>T) n.2256A>T n.940A>T c.*805A>T (n.*805A>T) c.4549A>T (p.Lys1517Ter) n.9729A>T n.3194A>T c.5389A>T (p.Lys1797Ter) c.5473A>T (p.Lys1825Ter) c.5521A>T (p.Lys1841Ter) c.4495A>T (p.Lys1499Ter) c.4076A>T c.3637A>T (p.Lys1213Ter) c.*1454A>T (n.*1454A>T) c.4790A>T c.5563A>T (p.Lys1855Ter) c.5560A>T (p.Lys1854Ter) c.5515A>T (p.Lys1839Ter) c.4639A>T (p.Lys1547Ter) c.4408A>T (p.Lys1470Ter) | |
10 | g.94304545A>C | CA377642914 | PLCE1 | c.4598A>C (p.Lys1533Thr) c.*2065A>C (n.*2065A>C) n.2257A>C n.941A>C c.*806A>C (n.*806A>C) c.4550A>C (p.Lys1517Thr) n.9730A>C n.3195A>C c.5390A>C (p.Lys1797Thr) c.5474A>C (p.Lys1825Thr) c.5522A>C (p.Lys1841Thr) c.4496A>C (p.Lys1499Thr) c.4077A>C c.3638A>C (p.Lys1213Thr) c.*1455A>C (n.*1455A>C) c.4791A>C c.5564A>C (p.Lys1855Thr) c.5561A>C (p.Lys1854Thr) c.5516A>C (p.Lys1839Thr) c.4640A>C (p.Lys1547Thr) c.4409A>C (p.Lys1470Thr) | |
10 | g.94304545A>G | CA377642915 | PLCE1 | c.4598A>G (p.Lys1533Arg) c.*2065A>G (n.*2065A>G) n.2257A>G n.941A>G c.*806A>G (n.*806A>G) c.4550A>G (p.Lys1517Arg) n.9730A>G n.3195A>G c.5390A>G (p.Lys1797Arg) c.5474A>G (p.Lys1825Arg) c.5522A>G (p.Lys1841Arg) c.4496A>G (p.Lys1499Arg) c.4077A>G c.3638A>G (p.Lys1213Arg) c.*1455A>G (n.*1455A>G) c.4791A>G c.5564A>G (p.Lys1855Arg) c.5561A>G (p.Lys1854Arg) c.5516A>G (p.Lys1839Arg) c.4640A>G (p.Lys1547Arg) c.4409A>G (p.Lys1470Arg) | |
10 | g.94304545A>T | CA377642917 | PLCE1 | c.4598A>T (p.Lys1533Ile) c.*2065A>T (n.*2065A>T) n.2257A>T n.941A>T c.*806A>T (n.*806A>T) c.4550A>T (p.Lys1517Ile) n.9730A>T n.3195A>T c.5390A>T (p.Lys1797Ile) c.5474A>T (p.Lys1825Ile) c.5522A>T (p.Lys1841Ile) c.4496A>T (p.Lys1499Ile) c.4077A>T c.3638A>T (p.Lys1213Ile) c.*1455A>T (n.*1455A>T) c.4791A>T c.5564A>T (p.Lys1855Ile) c.5561A>T (p.Lys1854Ile) c.5516A>T (p.Lys1839Ile) c.4640A>T (p.Lys1547Ile) c.4409A>T (p.Lys1470Ile) | |
10 | g.94304546A>C | CA377642921 | PLCE1 | c.4599A>C (p.Lys1533Asn) c.*2066A>C (n.*2066A>C) n.2258A>C n.942A>C c.*807A>C (n.*807A>C) c.4551A>C (p.Lys1517Asn) n.9731A>C n.3196A>C c.5391A>C (p.Lys1797Asn) c.5475A>C (p.Lys1825Asn) c.5523A>C (p.Lys1841Asn) c.4497A>C (p.Lys1499Asn) c.4078A>C c.3639A>C (p.Lys1213Asn) c.*1456A>C (n.*1456A>C) c.4792A>C c.5565A>C (p.Lys1855Asn) c.5562A>C (p.Lys1854Asn) c.5517A>C (p.Lys1839Asn) c.4641A>C (p.Lys1547Asn) c.4410A>C (p.Lys1470Asn) | |
10 | g.94304546A>G | CA470808582 | PLCE1 | c.4599A>G (p.Lys1533=) c.*2066A>G (n.*2066A>G) n.2258A>G n.942A>G c.*807A>G (n.*807A>G) c.4551A>G (p.Lys1517=) n.9731A>G n.3196A>G c.5391A>G (p.Lys1797=) c.5475A>G (p.Lys1825=) c.5523A>G (p.Lys1841=) c.4497A>G (p.Lys1499=) c.4078A>G c.3639A>G (p.Lys1213=) c.*1456A>G (n.*1456A>G) c.4792A>G c.5565A>G (p.Lys1855=) c.5562A>G (p.Lys1854=) c.5517A>G (p.Lys1839=) c.4641A>G (p.Lys1547=) c.4410A>G (p.Lys1470=) | |
10 | g.94304546A>T | CA377642920 | PLCE1 | c.4599A>T (p.Lys1533Asn) c.*2066A>T (n.*2066A>T) n.2258A>T n.942A>T c.*807A>T (n.*807A>T) c.4551A>T (p.Lys1517Asn) n.9731A>T n.3196A>T c.5391A>T (p.Lys1797Asn) c.5475A>T (p.Lys1825Asn) c.5523A>T (p.Lys1841Asn) c.4497A>T (p.Lys1499Asn) c.4078A>T c.3639A>T (p.Lys1213Asn) c.*1456A>T (n.*1456A>T) c.4792A>T c.5565A>T (p.Lys1855Asn) c.5562A>T (p.Lys1854Asn) c.5517A>T (p.Lys1839Asn) c.4641A>T (p.Lys1547Asn) c.4410A>T (p.Lys1470Asn) | |
10 | g.94304547C>A | CA377642924 | PLCE1 | c.4600C>A (p.Pro1534Thr) c.*2067C>A (n.*2067C>A) n.2259C>A n.943C>A c.*808C>A (n.*808C>A) c.4552C>A (p.Pro1518Thr) n.9732C>A n.3197C>A c.5392C>A (p.Pro1798Thr) c.5476C>A (p.Pro1826Thr) c.5524C>A (p.Pro1842Thr) c.4498C>A (p.Pro1500Thr) c.4079C>A c.3640C>A (p.Pro1214Thr) c.*1457C>A (n.*1457C>A) c.4793C>A c.5566C>A (p.Pro1856Thr) c.5563C>A (p.Pro1855Thr) c.5518C>A (p.Pro1840Thr) c.4642C>A (p.Pro1548Thr) c.4411C>A (p.Pro1471Thr) | |
10 | g.94304547C= | CA1929000775 | PLCE1 | c.4600C= (p.Pro1534=) c.*2067C= (n.*2067C=) n.2259C= n.943C= c.*808C= (n.*808C=) c.4552C= (p.Pro1518=) n.9732C= n.3197C= c.5392C= (p.Pro1798=) c.5476C= (p.Pro1826=) c.5524C= (p.Pro1842=) c.4498C= (p.Pro1500=) c.4079C= c.3640C= (p.Pro1214=) c.*1457C= (n.*1457C=) c.4793C= c.5566C= (p.Pro1856=) c.5563C= (p.Pro1855=) c.5518C= (p.Pro1840=) c.4642C= (p.Pro1548=) c.4411C= (p.Pro1471=) | |
10 | g.94304547C>G | CA5613379 | PLCE1 | c.4600C>G (p.Pro1534Ala) c.*2067C>G (n.*2067C>G) n.2259C>G n.943C>G c.*808C>G (n.*808C>G) c.4552C>G (p.Pro1518Ala) n.9732C>G n.3197C>G c.5392C>G (p.Pro1798Ala) c.5476C>G (p.Pro1826Ala) c.5524C>G (p.Pro1842Ala) c.4498C>G (p.Pro1500Ala) c.4079C>G c.3640C>G (p.Pro1214Ala) c.*1457C>G (n.*1457C>G) c.4793C>G c.5566C>G (p.Pro1856Ala) c.5563C>G (p.Pro1855Ala) c.5518C>G (p.Pro1840Ala) c.4642C>G (p.Pro1548Ala) c.4411C>G (p.Pro1471Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94304547C>T | CA377642927 | PLCE1 | c.4600C>T (p.Pro1534Ser) c.*2067C>T (n.*2067C>T) n.2259C>T n.943C>T c.*808C>T (n.*808C>T) c.4552C>T (p.Pro1518Ser) n.9732C>T n.3197C>T c.5392C>T (p.Pro1798Ser) c.5476C>T (p.Pro1826Ser) c.5524C>T (p.Pro1842Ser) c.4498C>T (p.Pro1500Ser) c.4079C>T c.3640C>T (p.Pro1214Ser) c.*1457C>T (n.*1457C>T) c.4793C>T c.5566C>T (p.Pro1856Ser) c.5563C>T (p.Pro1855Ser) c.5518C>T (p.Pro1840Ser) c.4642C>T (p.Pro1548Ser) c.4411C>T (p.Pro1471Ser) | |
10 | g.94304548C>A | CA377642930 | PLCE1 | c.4601C>A (p.Pro1534His) c.*2068C>A (n.*2068C>A) n.2260C>A n.944C>A c.*809C>A (n.*809C>A) c.4553C>A (p.Pro1518His) n.9733C>A n.3198C>A c.5393C>A (p.Pro1798His) c.5477C>A (p.Pro1826His) c.5525C>A (p.Pro1842His) c.4499C>A (p.Pro1500His) c.4080C>A c.3641C>A (p.Pro1214His) c.*1458C>A (n.*1458C>A) c.4794C>A c.5567C>A (p.Pro1856His) c.5564C>A (p.Pro1855His) c.5519C>A (p.Pro1840His) c.4643C>A (p.Pro1548His) c.4412C>A (p.Pro1471His) | |
10 | g.94304548C>G | CA377642931 | PLCE1 | c.4601C>G (p.Pro1534Arg) c.*2068C>G (n.*2068C>G) n.2260C>G n.944C>G c.*809C>G (n.*809C>G) c.4553C>G (p.Pro1518Arg) n.9733C>G n.3198C>G c.5393C>G (p.Pro1798Arg) c.5477C>G (p.Pro1826Arg) c.5525C>G (p.Pro1842Arg) c.4499C>G (p.Pro1500Arg) c.4080C>G c.3641C>G (p.Pro1214Arg) c.*1458C>G (n.*1458C>G) c.4794C>G c.5567C>G (p.Pro1856Arg) c.5564C>G (p.Pro1855Arg) c.5519C>G (p.Pro1840Arg) c.4643C>G (p.Pro1548Arg) c.4412C>G (p.Pro1471Arg) | |
10 | g.94304548C>T | CA377642933 | PLCE1 | c.4601C>T (p.Pro1534Leu) c.*2068C>T (n.*2068C>T) n.2260C>T n.944C>T c.*809C>T (n.*809C>T) c.4553C>T (p.Pro1518Leu) n.9733C>T n.3198C>T c.5393C>T (p.Pro1798Leu) c.5477C>T (p.Pro1826Leu) c.5525C>T (p.Pro1842Leu) c.4499C>T (p.Pro1500Leu) c.4080C>T c.3641C>T (p.Pro1214Leu) c.*1458C>T (n.*1458C>T) c.4794C>T c.5567C>T (p.Pro1856Leu) c.5564C>T (p.Pro1855Leu) c.5519C>T (p.Pro1840Leu) c.4643C>T (p.Pro1548Leu) c.4412C>T (p.Pro1471Leu) | |
10 | g.94304549T>A | CA470808584 | PLCE1 | c.4602T>A (p.Pro1534=) c.*2069T>A (n.*2069T>A) n.2261T>A n.945T>A c.*810T>A (n.*810T>A) c.4554T>A (p.Pro1518=) n.9734T>A n.3199T>A c.5394T>A (p.Pro1798=) c.5478T>A (p.Pro1826=) c.5526T>A (p.Pro1842=) c.4500T>A (p.Pro1500=) c.4081T>A c.3642T>A (p.Pro1214=) c.*1459T>A (n.*1459T>A) c.4795T>A c.5568T>A (p.Pro1856=) c.5565T>A (p.Pro1855=) c.5520T>A (p.Pro1840=) c.4644T>A (p.Pro1548=) c.4413T>A (p.Pro1471=) | |
10 | g.94304549T>C | CA470808585 | PLCE1 | c.4602T>C (p.Pro1534=) c.*2069T>C (n.*2069T>C) n.2261T>C n.945T>C c.*810T>C (n.*810T>C) c.4554T>C (p.Pro1518=) n.9734T>C n.3199T>C c.5394T>C (p.Pro1798=) c.5478T>C (p.Pro1826=) c.5526T>C (p.Pro1842=) c.4500T>C (p.Pro1500=) c.4081T>C c.3642T>C (p.Pro1214=) c.*1459T>C (n.*1459T>C) c.4795T>C c.5568T>C (p.Pro1856=) c.5565T>C (p.Pro1855=) c.5520T>C (p.Pro1840=) c.4644T>C (p.Pro1548=) c.4413T>C (p.Pro1471=) | |
10 | g.94304549T>G | CA470808586 | PLCE1 | c.4602T>G (p.Pro1534=) c.*2069T>G (n.*2069T>G) n.2261T>G n.945T>G c.*810T>G (n.*810T>G) c.4554T>G (p.Pro1518=) n.9734T>G n.3199T>G c.5394T>G (p.Pro1798=) c.5478T>G (p.Pro1826=) c.5526T>G (p.Pro1842=) c.4500T>G (p.Pro1500=) c.4081T>G c.3642T>G (p.Pro1214=) c.*1459T>G (n.*1459T>G) c.4795T>G c.5568T>G (p.Pro1856=) c.5565T>G (p.Pro1855=) c.5520T>G (p.Pro1840=) c.4644T>G (p.Pro1548=) c.4413T>G (p.Pro1471=) | |
10 | g.94304550C>A | CA377642935 | PLCE1 | c.4603C>A (p.Pro1535Thr) c.*2070C>A (n.*2070C>A) n.2262C>A n.946C>A c.*811C>A (n.*811C>A) c.4555C>A (p.Pro1519Thr) n.9735C>A n.3200C>A c.5395C>A (p.Pro1799Thr) c.5479C>A (p.Pro1827Thr) c.5527C>A (p.Pro1843Thr) c.4501C>A (p.Pro1501Thr) c.4082C>A c.3643C>A (p.Pro1215Thr) c.*1460C>A (n.*1460C>A) c.4796C>A c.5569C>A (p.Pro1857Thr) c.5566C>A (p.Pro1856Thr) c.5521C>A (p.Pro1841Thr) c.4645C>A (p.Pro1549Thr) c.4414C>A (p.Pro1472Thr) | |
10 | g.94304550C>G | CA377642939 | PLCE1 | c.4603C>G (p.Pro1535Ala) c.*2070C>G (n.*2070C>G) n.2262C>G n.946C>G c.*811C>G (n.*811C>G) c.4555C>G (p.Pro1519Ala) n.9735C>G n.3200C>G c.5395C>G (p.Pro1799Ala) c.5479C>G (p.Pro1827Ala) c.5527C>G (p.Pro1843Ala) c.4501C>G (p.Pro1501Ala) c.4082C>G c.3643C>G (p.Pro1215Ala) c.*1460C>G (n.*1460C>G) c.4796C>G c.5569C>G (p.Pro1857Ala) c.5566C>G (p.Pro1856Ala) c.5521C>G (p.Pro1841Ala) c.4645C>G (p.Pro1549Ala) c.4414C>G (p.Pro1472Ala) | |
10 | g.94304550C>T | CA377642937 | PLCE1 | c.4603C>T (p.Pro1535Ser) c.*2070C>T (n.*2070C>T) n.2262C>T n.946C>T c.*811C>T (n.*811C>T) c.4555C>T (p.Pro1519Ser) n.9735C>T n.3200C>T c.5395C>T (p.Pro1799Ser) c.5479C>T (p.Pro1827Ser) c.5527C>T (p.Pro1843Ser) c.4501C>T (p.Pro1501Ser) c.4082C>T c.3643C>T (p.Pro1215Ser) c.*1460C>T (n.*1460C>T) c.4796C>T c.5569C>T (p.Pro1857Ser) c.5566C>T (p.Pro1856Ser) c.5521C>T (p.Pro1841Ser) c.4645C>T (p.Pro1549Ser) c.4414C>T (p.Pro1472Ser) | |
10 | g.94304551C>A | CA377642941 | PLCE1 | c.4604C>A (p.Pro1535Gln) c.*2071C>A (n.*2071C>A) n.2263C>A n.947C>A c.*812C>A (n.*812C>A) c.4556C>A (p.Pro1519Gln) n.9736C>A n.3201C>A c.5396C>A (p.Pro1799Gln) c.5480C>A (p.Pro1827Gln) c.5528C>A (p.Pro1843Gln) c.4502C>A (p.Pro1501Gln) c.4083C>A c.3644C>A (p.Pro1215Gln) c.*1461C>A (n.*1461C>A) c.4797C>A c.5570C>A (p.Pro1857Gln) c.5567C>A (p.Pro1856Gln) c.5522C>A (p.Pro1841Gln) c.4646C>A (p.Pro1549Gln) c.4415C>A (p.Pro1472Gln) | |
10 | g.94304551C>G | CA377642942 | PLCE1 | c.4604C>G (p.Pro1535Arg) c.*2071C>G (n.*2071C>G) n.2263C>G n.947C>G c.*812C>G (n.*812C>G) c.4556C>G (p.Pro1519Arg) n.9736C>G n.3201C>G c.5396C>G (p.Pro1799Arg) c.5480C>G (p.Pro1827Arg) c.5528C>G (p.Pro1843Arg) c.4502C>G (p.Pro1501Arg) c.4083C>G c.3644C>G (p.Pro1215Arg) c.*1461C>G (n.*1461C>G) c.4797C>G c.5570C>G (p.Pro1857Arg) c.5567C>G (p.Pro1856Arg) c.5522C>G (p.Pro1841Arg) c.4646C>G (p.Pro1549Arg) c.4415C>G (p.Pro1472Arg) | |
10 | g.94304551C>T | CA377642944 | PLCE1 | c.4604C>T (p.Pro1535Leu) c.*2071C>T (n.*2071C>T) n.2263C>T n.947C>T c.*812C>T (n.*812C>T) c.4556C>T (p.Pro1519Leu) n.9736C>T n.3201C>T c.5396C>T (p.Pro1799Leu) c.5480C>T (p.Pro1827Leu) c.5528C>T (p.Pro1843Leu) c.4502C>T (p.Pro1501Leu) c.4083C>T c.3644C>T (p.Pro1215Leu) c.*1461C>T (n.*1461C>T) c.4797C>T c.5570C>T (p.Pro1857Leu) c.5567C>T (p.Pro1856Leu) c.5522C>T (p.Pro1841Leu) c.4646C>T (p.Pro1549Leu) c.4415C>T (p.Pro1472Leu) | |
10 | g.94304552A= | CA1929000776 | PLCE1 | c.4605A= (p.Pro1535=) c.*2072A= (n.*2072A=) n.2264A= n.948A= c.*813A= (n.*813A=) c.4557A= (p.Pro1519=) n.9737A= n.3202A= c.5397A= (p.Pro1799=) c.5481A= (p.Pro1827=) c.5529A= (p.Pro1843=) c.4503A= (p.Pro1501=) c.4084A= c.3645A= (p.Pro1215=) c.*1462A= (n.*1462A=) c.4798A= c.5571A= (p.Pro1857=) c.5568A= (p.Pro1856=) c.5523A= (p.Pro1841=) c.4647A= (p.Pro1549=) c.4416A= (p.Pro1472=) | |
10 | g.94304552A>C | CA211603930 | PLCE1 | c.4605A>C (p.Pro1535=) c.*2072A>C (n.*2072A>C) n.2264A>C n.948A>C c.*813A>C (n.*813A>C) c.4557A>C (p.Pro1519=) n.9737A>C n.3202A>C c.5397A>C (p.Pro1799=) c.5481A>C (p.Pro1827=) c.5529A>C (p.Pro1843=) c.4503A>C (p.Pro1501=) c.4084A>C c.3645A>C (p.Pro1215=) c.*1462A>C (n.*1462A>C) c.4798A>C c.5571A>C (p.Pro1857=) c.5568A>C (p.Pro1856=) c.5523A>C (p.Pro1841=) c.4647A>C (p.Pro1549=) c.4416A>C (p.Pro1472=) | dbSNP |
10 | g.94304552A>G | CA470808589 | PLCE1 | c.4605A>G (p.Pro1535=) c.*2072A>G (n.*2072A>G) n.2264A>G n.948A>G c.*813A>G (n.*813A>G) c.4557A>G (p.Pro1519=) n.9737A>G n.3202A>G c.5397A>G (p.Pro1799=) c.5481A>G (p.Pro1827=) c.5529A>G (p.Pro1843=) c.4503A>G (p.Pro1501=) c.4084A>G c.3645A>G (p.Pro1215=) c.*1462A>G (n.*1462A>G) c.4798A>G c.5571A>G (p.Pro1857=) c.5568A>G (p.Pro1856=) c.5523A>G (p.Pro1841=) c.4647A>G (p.Pro1549=) c.4416A>G (p.Pro1472=) | |
10 | g.94304552A>T | CA470808591 | PLCE1 | c.4605A>T (p.Pro1535=) c.*2072A>T (n.*2072A>T) n.2264A>T n.948A>T c.*813A>T (n.*813A>T) c.4557A>T (p.Pro1519=) n.9737A>T n.3202A>T c.5397A>T (p.Pro1799=) c.5481A>T (p.Pro1827=) c.5529A>T (p.Pro1843=) c.4503A>T (p.Pro1501=) c.4084A>T c.3645A>T (p.Pro1215=) c.*1462A>T (n.*1462A>T) c.4798A>T c.5571A>T (p.Pro1857=) c.5568A>T (p.Pro1856=) c.5523A>T (p.Pro1841=) c.4647A>T (p.Pro1549=) c.4416A>T (p.Pro1472=) | |
10 | g.94304553G>A | CA377642946 | PLCE1 | c.4606G>A (p.Val1536Ile) c.*2073G>A (n.*2073G>A) n.2265G>A n.949G>A c.*814G>A (n.*814G>A) c.4558G>A (p.Val1520Ile) n.9738G>A n.3203G>A c.5398G>A (p.Val1800Ile) c.5482G>A (p.Val1828Ile) c.5530G>A (p.Val1844Ile) c.4504G>A (p.Val1502Ile) c.4085G>A c.3646G>A (p.Val1216Ile) c.*1463G>A (n.*1463G>A) c.4799G>A c.5572G>A (p.Val1858Ile) c.5569G>A (p.Val1857Ile) c.5524G>A (p.Val1842Ile) c.4648G>A (p.Val1550Ile) c.4417G>A (p.Val1473Ile) | COSMIC COSMIC COSMIC |
10 | g.94304553G>C | CA377642948 | PLCE1 | c.4606G>C (p.Val1536Leu) c.*2073G>C (n.*2073G>C) n.2265G>C n.949G>C c.*814G>C (n.*814G>C) c.4558G>C (p.Val1520Leu) n.9738G>C n.3203G>C c.5398G>C (p.Val1800Leu) c.5482G>C (p.Val1828Leu) c.5530G>C (p.Val1844Leu) c.4504G>C (p.Val1502Leu) c.4085G>C c.3646G>C (p.Val1216Leu) c.*1463G>C (n.*1463G>C) c.4799G>C c.5572G>C (p.Val1858Leu) c.5569G>C (p.Val1857Leu) c.5524G>C (p.Val1842Leu) c.4648G>C (p.Val1550Leu) c.4417G>C (p.Val1473Leu) | |
10 | g.94304553G>T | CA377642950 | PLCE1 | c.4606G>T (p.Val1536Phe) c.*2073G>T (n.*2073G>T) n.2265G>T n.949G>T c.*814G>T (n.*814G>T) c.4558G>T (p.Val1520Phe) n.9738G>T n.3203G>T c.5398G>T (p.Val1800Phe) c.5482G>T (p.Val1828Phe) c.5530G>T (p.Val1844Phe) c.4504G>T (p.Val1502Phe) c.4085G>T c.3646G>T (p.Val1216Phe) c.*1463G>T (n.*1463G>T) c.4799G>T c.5572G>T (p.Val1858Phe) c.5569G>T (p.Val1857Phe) c.5524G>T (p.Val1842Phe) c.4648G>T (p.Val1550Phe) c.4417G>T (p.Val1473Phe) | |
10 | g.94304554T>A | CA377642952 | PLCE1 | c.4607T>A (p.Val1536Asp) c.*2074T>A (n.*2074T>A) n.2266T>A n.950T>A c.*815T>A (n.*815T>A) c.4559T>A (p.Val1520Asp) n.9739T>A n.3204T>A c.5399T>A (p.Val1800Asp) c.5483T>A (p.Val1828Asp) c.5531T>A (p.Val1844Asp) c.4505T>A (p.Val1502Asp) c.4086T>A c.3647T>A (p.Val1216Asp) c.*1464T>A (n.*1464T>A) c.4800T>A c.5573T>A (p.Val1858Asp) c.5570T>A (p.Val1857Asp) c.5525T>A (p.Val1842Asp) c.4649T>A (p.Val1550Asp) c.4418T>A (p.Val1473Asp) | |
10 | g.94304554T>C | CA377642954 | PLCE1 | c.4607T>C (p.Val1536Ala) c.*2074T>C (n.*2074T>C) n.2266T>C n.950T>C c.*815T>C (n.*815T>C) c.4559T>C (p.Val1520Ala) n.9739T>C n.3204T>C c.5399T>C (p.Val1800Ala) c.5483T>C (p.Val1828Ala) c.5531T>C (p.Val1844Ala) c.4505T>C (p.Val1502Ala) c.4086T>C c.3647T>C (p.Val1216Ala) c.*1464T>C (n.*1464T>C) c.4800T>C c.5573T>C (p.Val1858Ala) c.5570T>C (p.Val1857Ala) c.5525T>C (p.Val1842Ala) c.4649T>C (p.Val1550Ala) c.4418T>C (p.Val1473Ala) | |
10 | g.94304554T>G | CA377642956 | PLCE1 | c.4607T>G (p.Val1536Gly) c.*2074T>G (n.*2074T>G) n.2266T>G n.950T>G c.*815T>G (n.*815T>G) c.4559T>G (p.Val1520Gly) n.9739T>G n.3204T>G c.5399T>G (p.Val1800Gly) c.5483T>G (p.Val1828Gly) c.5531T>G (p.Val1844Gly) c.4505T>G (p.Val1502Gly) c.4086T>G c.3647T>G (p.Val1216Gly) c.*1464T>G (n.*1464T>G) c.4800T>G c.5573T>G (p.Val1858Gly) c.5570T>G (p.Val1857Gly) c.5525T>G (p.Val1842Gly) c.4649T>G (p.Val1550Gly) c.4418T>G (p.Val1473Gly) | |
10 | g.94304555T>A | CA470808592 | PLCE1 | c.4608T>A (p.Val1536=) c.*2075T>A (n.*2075T>A) n.2267T>A n.951T>A c.*816T>A (n.*816T>A) c.4560T>A (p.Val1520=) n.9740T>A n.3205T>A c.5400T>A (p.Val1800=) c.5484T>A (p.Val1828=) c.5532T>A (p.Val1844=) c.4506T>A (p.Val1502=) c.4087T>A c.3648T>A (p.Val1216=) c.*1465T>A (n.*1465T>A) c.4801T>A c.5574T>A (p.Val1858=) c.5571T>A (p.Val1857=) c.5526T>A (p.Val1842=) c.4650T>A (p.Val1550=) c.4419T>A (p.Val1473=) | |
10 | g.94304555T>C | CA470808593 | PLCE1 | c.4608T>C (p.Val1536=) c.*2075T>C (n.*2075T>C) n.2267T>C n.951T>C c.*816T>C (n.*816T>C) c.4560T>C (p.Val1520=) n.9740T>C n.3205T>C c.5400T>C (p.Val1800=) c.5484T>C (p.Val1828=) c.5532T>C (p.Val1844=) c.4506T>C (p.Val1502=) c.4087T>C c.3648T>C (p.Val1216=) c.*1465T>C (n.*1465T>C) c.4801T>C c.5574T>C (p.Val1858=) c.5571T>C (p.Val1857=) c.5526T>C (p.Val1842=) c.4650T>C (p.Val1550=) c.4419T>C (p.Val1473=) | |
10 | g.94304555T>G | CA470808594 | PLCE1 | c.4608T>G (p.Val1536=) c.*2075T>G (n.*2075T>G) n.2267T>G n.951T>G c.*816T>G (n.*816T>G) c.4560T>G (p.Val1520=) n.9740T>G n.3205T>G c.5400T>G (p.Val1800=) c.5484T>G (p.Val1828=) c.5532T>G (p.Val1844=) c.4506T>G (p.Val1502=) c.4087T>G c.3648T>G (p.Val1216=) c.*1465T>G (n.*1465T>G) c.4801T>G c.5574T>G (p.Val1858=) c.5571T>G (p.Val1857=) c.5526T>G (p.Val1842=) c.4650T>G (p.Val1550=) c.4419T>G (p.Val1473=) | |
10 | g.94304556C>A | CA377642958 | PLCE1 | c.4609C>A (p.Leu1537Met) c.*2076C>A (n.*2076C>A) n.2268C>A n.952C>A c.*817C>A (n.*817C>A) c.4561C>A (p.Leu1521Met) n.9741C>A n.3206C>A c.5401C>A (p.Leu1801Met) c.5485C>A (p.Leu1829Met) c.5533C>A (p.Leu1845Met) c.4507C>A (p.Leu1503Met) c.4088C>A c.3649C>A (p.Leu1217Met) c.*1466C>A (n.*1466C>A) c.4802C>A c.5575C>A (p.Leu1859Met) c.5572C>A (p.Leu1858Met) c.5527C>A (p.Leu1843Met) c.4651C>A (p.Leu1551Met) c.4420C>A (p.Leu1474Met) | dbSNP COSMIC |
10 | g.94304556C= | CA1929000777 | PLCE1 | c.4609C= (p.Leu1537=) c.*2076C= (n.*2076C=) n.2268C= n.952C= c.*817C= (n.*817C=) c.4561C= (p.Leu1521=) n.9741C= n.3206C= c.5401C= (p.Leu1801=) c.5485C= (p.Leu1829=) c.5533C= (p.Leu1845=) c.4507C= (p.Leu1503=) c.4088C= c.3649C= (p.Leu1217=) c.*1466C= (n.*1466C=) c.4802C= c.5575C= (p.Leu1859=) c.5572C= (p.Leu1858=) c.5527C= (p.Leu1843=) c.4651C= (p.Leu1551=) c.4420C= (p.Leu1474=) | |
10 | g.94304556C>G | CA377642960 | PLCE1 | c.4609C>G (p.Leu1537Val) c.*2076C>G (n.*2076C>G) n.2268C>G n.952C>G c.*817C>G (n.*817C>G) c.4561C>G (p.Leu1521Val) n.9741C>G n.3206C>G c.5401C>G (p.Leu1801Val) c.5485C>G (p.Leu1829Val) c.5533C>G (p.Leu1845Val) c.4507C>G (p.Leu1503Val) c.4088C>G c.3649C>G (p.Leu1217Val) c.*1466C>G (n.*1466C>G) c.4802C>G c.5575C>G (p.Leu1859Val) c.5572C>G (p.Leu1858Val) c.5527C>G (p.Leu1843Val) c.4651C>G (p.Leu1551Val) c.4420C>G (p.Leu1474Val) | |
10 | g.94304556C>T | CA470808595 | PLCE1 | c.4609C>T (p.Leu1537=) c.*2076C>T (n.*2076C>T) n.2268C>T n.952C>T c.*817C>T (n.*817C>T) c.4561C>T (p.Leu1521=) n.9741C>T n.3206C>T c.5401C>T (p.Leu1801=) c.5485C>T (p.Leu1829=) c.5533C>T (p.Leu1845=) c.4507C>T (p.Leu1503=) c.4088C>T c.3649C>T (p.Leu1217=) c.*1466C>T (n.*1466C>T) c.4802C>T c.5575C>T (p.Leu1859=) c.5572C>T (p.Leu1858=) c.5527C>T (p.Leu1843=) c.4651C>T (p.Leu1551=) c.4420C>T (p.Leu1474=) | |
10 | g.94304557T>A | CA377642964 | PLCE1 | c.4610T>A (p.Leu1537Gln) c.*2077T>A (n.*2077T>A) n.2269T>A n.953T>A c.*818T>A (n.*818T>A) c.4562T>A (p.Leu1521Gln) n.9742T>A n.3207T>A c.5402T>A (p.Leu1801Gln) c.5486T>A (p.Leu1829Gln) c.5534T>A (p.Leu1845Gln) c.4508T>A (p.Leu1503Gln) c.4089T>A c.3650T>A (p.Leu1217Gln) c.*1467T>A (n.*1467T>A) c.4803T>A c.5576T>A (p.Leu1859Gln) c.5573T>A (p.Leu1858Gln) c.5528T>A (p.Leu1843Gln) c.4652T>A (p.Leu1551Gln) c.4421T>A (p.Leu1474Gln) | |
10 | g.94304557T>C | CA377642963 | PLCE1 | c.4610T>C (p.Leu1537Pro) c.*2077T>C (n.*2077T>C) n.2269T>C n.953T>C c.*818T>C (n.*818T>C) c.4562T>C (p.Leu1521Pro) n.9742T>C n.3207T>C c.5402T>C (p.Leu1801Pro) c.5486T>C (p.Leu1829Pro) c.5534T>C (p.Leu1845Pro) c.4508T>C (p.Leu1503Pro) c.4089T>C c.3650T>C (p.Leu1217Pro) c.*1467T>C (n.*1467T>C) c.4803T>C c.5576T>C (p.Leu1859Pro) c.5573T>C (p.Leu1858Pro) c.5528T>C (p.Leu1843Pro) c.4652T>C (p.Leu1551Pro) c.4421T>C (p.Leu1474Pro) | |
10 | g.94304557T>G | CA377642962 | PLCE1 | c.4610T>G (p.Leu1537Arg) c.*2077T>G (n.*2077T>G) n.2269T>G n.953T>G c.*818T>G (n.*818T>G) c.4562T>G (p.Leu1521Arg) n.9742T>G n.3207T>G c.5402T>G (p.Leu1801Arg) c.5486T>G (p.Leu1829Arg) c.5534T>G (p.Leu1845Arg) c.4508T>G (p.Leu1503Arg) c.4089T>G c.3650T>G (p.Leu1217Arg) c.*1467T>G (n.*1467T>G) c.4803T>G c.5576T>G (p.Leu1859Arg) c.5573T>G (p.Leu1858Arg) c.5528T>G (p.Leu1843Arg) c.4652T>G (p.Leu1551Arg) c.4421T>G (p.Leu1474Arg) | |
10 | g.94304557_94304558insTGTCCCACAGAACTGGA | CA2610239869 | PLCE1 | c.4610_4611insTGTCCCACAGAACTGGA (p.Trp1538ValfsTer20) c.*2077_*2078insTGTCCCACAGAACTGGA (n.*2077_*2078insTGTCCCACAGAACTGGA) n.2269_2270insTGTCCCACAGAACTGGA n.953_954insTGTCCCACAGAACTGGA c.*818_*819insTGTCCCACAGAACTGGA (n.*818_*819insTGTCCCACAGAACTGGA) c.4562_4563insTGTCCCACAGAACTGGA (p.Trp1522ValfsTer20) n.9742_9743insTGTCCCACAGAACTGGA n.3207_3208insTGTCCCACAGAACTGGA c.5402_5403insTGTCCCACAGAACTGGA (p.Trp1802ValfsTer20) c.5486_5487insTGTCCCACAGAACTGGA (p.Trp1830ValfsTer20) c.5534_5535insTGTCCCACAGAACTGGA (p.Trp1846ValfsTer20) c.4508_4509insTGTCCCACAGAACTGGA (p.Trp1504ValfsTer20) c.4089_4090insTGTCCCACAGAACTGGA c.3650_3651insTGTCCCACAGAACTGGA (p.Trp1218ValfsTer20) c.*1467_*1468insTGTCCCACAGAACTGGA (n.*1467_*1468insTGTCCCACAGAACTGGA) c.4803_4804insTGTCCCACAGAACTGGA c.5576_5577insTGTCCCACAGAACTGGA (p.Trp1860ValfsTer20) c.5573_5574insTGTCCCACAGAACTGGA (p.Trp1859ValfsTer20) c.5528_5529insTGTCCCACAGAACTGGA (p.Trp1844ValfsTer20) c.4652_4653insTGTCCCACAGAACTGGA (p.Trp1552ValfsTer20) c.4421_4422insTGTCCCACAGAACTGGA (p.Trp1475ValfsTer20) | gnomAD v4 |
10 | g.94304558G>A | CA470808598 | PLCE1 | c.4611G>A (p.Leu1537=) c.*2078G>A (n.*2078G>A) n.2270G>A n.954G>A c.*819G>A (n.*819G>A) c.4563G>A (p.Leu1521=) n.9743G>A n.3208G>A c.5403G>A (p.Leu1801=) c.5487G>A (p.Leu1829=) c.5535G>A (p.Leu1845=) c.4509G>A (p.Leu1503=) c.4090G>A c.3651G>A (p.Leu1217=) c.*1468G>A (n.*1468G>A) c.4804G>A c.5577G>A (p.Leu1859=) c.5574G>A (p.Leu1858=) c.5529G>A (p.Leu1843=) c.4653G>A (p.Leu1551=) c.4422G>A (p.Leu1474=) | |
10 | g.94304558G>C | CA470808599 | PLCE1 | c.4611G>C (p.Leu1537=) c.*2078G>C (n.*2078G>C) n.2270G>C n.954G>C c.*819G>C (n.*819G>C) c.4563G>C (p.Leu1521=) n.9743G>C n.3208G>C c.5403G>C (p.Leu1801=) c.5487G>C (p.Leu1829=) c.5535G>C (p.Leu1845=) c.4509G>C (p.Leu1503=) c.4090G>C c.3651G>C (p.Leu1217=) c.*1468G>C (n.*1468G>C) c.4804G>C c.5577G>C (p.Leu1859=) c.5574G>C (p.Leu1858=) c.5529G>C (p.Leu1843=) c.4653G>C (p.Leu1551=) c.4422G>C (p.Leu1474=) | |
10 | g.94304558G>T | CA470808600 | PLCE1 | c.4611G>T (p.Leu1537=) c.*2078G>T (n.*2078G>T) n.2270G>T n.954G>T c.*819G>T (n.*819G>T) c.4563G>T (p.Leu1521=) n.9743G>T n.3208G>T c.5403G>T (p.Leu1801=) c.5487G>T (p.Leu1829=) c.5535G>T (p.Leu1845=) c.4509G>T (p.Leu1503=) c.4090G>T c.3651G>T (p.Leu1217=) c.*1468G>T (n.*1468G>T) c.4804G>T c.5577G>T (p.Leu1859=) c.5574G>T (p.Leu1858=) c.5529G>T (p.Leu1843=) c.4653G>T (p.Leu1551=) c.4422G>T (p.Leu1474=) | |
10 | g.94304559T>A | CA377642966 | PLCE1 | c.4612T>A (p.Trp1538Arg) c.*2079T>A (n.*2079T>A) n.2271T>A n.955T>A c.*820T>A (n.*820T>A) c.4564T>A (p.Trp1522Arg) n.9744T>A n.3209T>A c.5404T>A (p.Trp1802Arg) c.5488T>A (p.Trp1830Arg) c.5536T>A (p.Trp1846Arg) c.4510T>A (p.Trp1504Arg) c.4091T>A c.3652T>A (p.Trp1218Arg) c.*1469T>A (n.*1469T>A) c.4805T>A c.5578T>A (p.Trp1860Arg) c.5575T>A (p.Trp1859Arg) c.5530T>A (p.Trp1844Arg) c.4654T>A (p.Trp1552Arg) c.4423T>A (p.Trp1475Arg) | |
10 | g.94304559T>C | CA5613380 | PLCE1 | c.4612T>C (p.Trp1538Arg) c.*2079T>C (n.*2079T>C) n.2271T>C n.955T>C c.*820T>C (n.*820T>C) c.4564T>C (p.Trp1522Arg) n.9744T>C n.3209T>C c.5404T>C (p.Trp1802Arg) c.5488T>C (p.Trp1830Arg) c.5536T>C (p.Trp1846Arg) c.4510T>C (p.Trp1504Arg) c.4091T>C c.3652T>C (p.Trp1218Arg) c.*1469T>C (n.*1469T>C) c.4805T>C c.5578T>C (p.Trp1860Arg) c.5575T>C (p.Trp1859Arg) c.5530T>C (p.Trp1844Arg) c.4654T>C (p.Trp1552Arg) c.4423T>C (p.Trp1475Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94304559T>G | CA377642967 | PLCE1 | c.4612T>G (p.Trp1538Gly) c.*2079T>G (n.*2079T>G) n.2271T>G n.955T>G c.*820T>G (n.*820T>G) c.4564T>G (p.Trp1522Gly) n.9744T>G n.3209T>G c.5404T>G (p.Trp1802Gly) c.5488T>G (p.Trp1830Gly) c.5536T>G (p.Trp1846Gly) c.4510T>G (p.Trp1504Gly) c.4091T>G c.3652T>G (p.Trp1218Gly) c.*1469T>G (n.*1469T>G) c.4805T>G c.5578T>G (p.Trp1860Gly) c.5575T>G (p.Trp1859Gly) c.5530T>G (p.Trp1844Gly) c.4654T>G (p.Trp1552Gly) c.4423T>G (p.Trp1475Gly) | |
10 | g.94304559T= | CA1929000778 | PLCE1 | c.4612T= (p.Trp1538=) c.*2079T= (n.*2079T=) n.2271T= n.955T= c.*820T= (n.*820T=) c.4564T= (p.Trp1522=) n.9744T= n.3209T= c.5404T= (p.Trp1802=) c.5488T= (p.Trp1830=) c.5536T= (p.Trp1846=) c.4510T= (p.Trp1504=) c.4091T= c.3652T= (p.Trp1218=) c.*1469T= (n.*1469T=) c.4805T= c.5578T= (p.Trp1860=) c.5575T= (p.Trp1859=) c.5530T= (p.Trp1844=) c.4654T= (p.Trp1552=) c.4423T= (p.Trp1475=) | |
10 | g.94304560G>A | CA377642971 | PLCE1 | c.4613G>A (p.Trp1538Ter) c.*2080G>A (n.*2080G>A) n.2272G>A n.956G>A c.*821G>A (n.*821G>A) c.4565G>A (p.Trp1522Ter) n.9745G>A n.3210G>A c.5405G>A (p.Trp1802Ter) c.5489G>A (p.Trp1830Ter) c.5537G>A (p.Trp1846Ter) c.4511G>A (p.Trp1504Ter) c.4092G>A c.3653G>A (p.Trp1218Ter) c.*1470G>A (n.*1470G>A) c.4806G>A c.5579G>A (p.Trp1860Ter) c.5576G>A (p.Trp1859Ter) c.5531G>A (p.Trp1844Ter) c.4655G>A (p.Trp1552Ter) c.4424G>A (p.Trp1475Ter) | gnomAD v4 |
10 | g.94304560G>C | CA377642972 | PLCE1 | c.4613G>C (p.Trp1538Ser) c.*2080G>C (n.*2080G>C) n.2272G>C n.956G>C c.*821G>C (n.*821G>C) c.4565G>C (p.Trp1522Ser) n.9745G>C n.3210G>C c.5405G>C (p.Trp1802Ser) c.5489G>C (p.Trp1830Ser) c.5537G>C (p.Trp1846Ser) c.4511G>C (p.Trp1504Ser) c.4092G>C c.3653G>C (p.Trp1218Ser) c.*1470G>C (n.*1470G>C) c.4806G>C c.5579G>C (p.Trp1860Ser) c.5576G>C (p.Trp1859Ser) c.5531G>C (p.Trp1844Ser) c.4655G>C (p.Trp1552Ser) c.4424G>C (p.Trp1475Ser) | |
10 | g.94304560G>T | CA377642975 | PLCE1 | c.4613G>T (p.Trp1538Leu) c.*2080G>T (n.*2080G>T) n.2272G>T n.956G>T c.*821G>T (n.*821G>T) c.4565G>T (p.Trp1522Leu) n.9745G>T n.3210G>T c.5405G>T (p.Trp1802Leu) c.5489G>T (p.Trp1830Leu) c.5537G>T (p.Trp1846Leu) c.4511G>T (p.Trp1504Leu) c.4092G>T c.3653G>T (p.Trp1218Leu) c.*1470G>T (n.*1470G>T) c.4806G>T c.5579G>T (p.Trp1860Leu) c.5576G>T (p.Trp1859Leu) c.5531G>T (p.Trp1844Leu) c.4655G>T (p.Trp1552Leu) c.4424G>T (p.Trp1475Leu) | |
10 | g.94304561G>A | CA377642977 | PLCE1 | c.4614G>A (p.Trp1538Ter) c.*2081G>A (n.*2081G>A) n.2273G>A n.957G>A c.*822G>A (n.*822G>A) c.4566G>A (p.Trp1522Ter) n.9746G>A n.3211G>A c.5406G>A (p.Trp1802Ter) c.5490G>A (p.Trp1830Ter) c.5538G>A (p.Trp1846Ter) c.4512G>A (p.Trp1504Ter) c.4093G>A c.3654G>A (p.Trp1218Ter) c.*1471G>A (n.*1471G>A) c.4807G>A c.5580G>A (p.Trp1860Ter) c.5577G>A (p.Trp1859Ter) c.5532G>A (p.Trp1844Ter) c.4656G>A (p.Trp1552Ter) c.4425G>A (p.Trp1475Ter) | |
10 | g.94304561G>C | CA377642979 | PLCE1 | c.4614G>C (p.Trp1538Cys) c.*2081G>C (n.*2081G>C) n.2273G>C n.957G>C c.*822G>C (n.*822G>C) c.4566G>C (p.Trp1522Cys) n.9746G>C n.3211G>C c.5406G>C (p.Trp1802Cys) c.5490G>C (p.Trp1830Cys) c.5538G>C (p.Trp1846Cys) c.4512G>C (p.Trp1504Cys) c.4093G>C c.3654G>C (p.Trp1218Cys) c.*1471G>C (n.*1471G>C) c.4807G>C c.5580G>C (p.Trp1860Cys) c.5577G>C (p.Trp1859Cys) c.5532G>C (p.Trp1844Cys) c.4656G>C (p.Trp1552Cys) c.4425G>C (p.Trp1475Cys) | |
10 | g.94304561G>T | CA377642981 | PLCE1 | c.4614G>T (p.Trp1538Cys) c.*2081G>T (n.*2081G>T) n.2273G>T n.957G>T c.*822G>T (n.*822G>T) c.4566G>T (p.Trp1522Cys) n.9746G>T n.3211G>T c.5406G>T (p.Trp1802Cys) c.5490G>T (p.Trp1830Cys) c.5538G>T (p.Trp1846Cys) c.4512G>T (p.Trp1504Cys) c.4093G>T c.3654G>T (p.Trp1218Cys) c.*1471G>T (n.*1471G>T) c.4807G>T c.5580G>T (p.Trp1860Cys) c.5577G>T (p.Trp1859Cys) c.5532G>T (p.Trp1844Cys) c.4656G>T (p.Trp1552Cys) c.4425G>T (p.Trp1475Cys) | |
10 | g.94304562G>A | CA377642983 | PLCE1 | c.4615G>A (p.Asp1539Asn) c.*2082G>A (n.*2082G>A) n.2274G>A n.958G>A c.*823G>A (n.*823G>A) c.4567G>A (p.Asp1523Asn) n.9747G>A n.3212G>A c.5407G>A (p.Asp1803Asn) c.5491G>A (p.Asp1831Asn) c.5539G>A (p.Asp1847Asn) c.4513G>A (p.Asp1505Asn) c.4094G>A c.3655G>A (p.Asp1219Asn) c.*1472G>A (n.*1472G>A) c.4808G>A c.5581G>A (p.Asp1861Asn) c.5578G>A (p.Asp1860Asn) c.5533G>A (p.Asp1845Asn) c.4657G>A (p.Asp1553Asn) c.4426G>A (p.Asp1476Asn) | gnomAD v4 |
10 | g.94304562G>C | CA377642985 | PLCE1 | c.4615G>C (p.Asp1539His) c.*2082G>C (n.*2082G>C) n.2274G>C n.958G>C c.*823G>C (n.*823G>C) c.4567G>C (p.Asp1523His) n.9747G>C n.3212G>C c.5407G>C (p.Asp1803His) c.5491G>C (p.Asp1831His) c.5539G>C (p.Asp1847His) c.4513G>C (p.Asp1505His) c.4094G>C c.3655G>C (p.Asp1219His) c.*1472G>C (n.*1472G>C) c.4808G>C c.5581G>C (p.Asp1861His) c.5578G>C (p.Asp1860His) c.5533G>C (p.Asp1845His) c.4657G>C (p.Asp1553His) c.4426G>C (p.Asp1476His) | COSMIC COSMIC COSMIC COSMIC |
10 | g.94304562G>T | CA377642987 | PLCE1 | c.4615G>T (p.Asp1539Tyr) c.*2082G>T (n.*2082G>T) n.2274G>T n.958G>T c.*823G>T (n.*823G>T) c.4567G>T (p.Asp1523Tyr) n.9747G>T n.3212G>T c.5407G>T (p.Asp1803Tyr) c.5491G>T (p.Asp1831Tyr) c.5539G>T (p.Asp1847Tyr) c.4513G>T (p.Asp1505Tyr) c.4094G>T c.3655G>T (p.Asp1219Tyr) c.*1472G>T (n.*1472G>T) c.4808G>T c.5581G>T (p.Asp1861Tyr) c.5578G>T (p.Asp1860Tyr) c.5533G>T (p.Asp1845Tyr) c.4657G>T (p.Asp1553Tyr) c.4426G>T (p.Asp1476Tyr) | |
10 | g.94304563A>C | CA377642989 | PLCE1 | c.4616A>C (p.Asp1539Ala) c.*2083A>C (n.*2083A>C) n.2275A>C n.959A>C c.*824A>C (n.*824A>C) c.4568A>C (p.Asp1523Ala) n.9748A>C n.3213A>C c.5408A>C (p.Asp1803Ala) c.5492A>C (p.Asp1831Ala) c.5540A>C (p.Asp1847Ala) c.4514A>C (p.Asp1505Ala) c.4095A>C c.3656A>C (p.Asp1219Ala) c.*1473A>C (n.*1473A>C) c.4809A>C c.5582A>C (p.Asp1861Ala) c.5579A>C (p.Asp1860Ala) c.5534A>C (p.Asp1845Ala) c.4658A>C (p.Asp1553Ala) c.4427A>C (p.Asp1476Ala) | |
10 | g.94304563A>G | CA377642991 | PLCE1 | c.4616A>G (p.Asp1539Gly) c.*2083A>G (n.*2083A>G) n.2275A>G n.959A>G c.*824A>G (n.*824A>G) c.4568A>G (p.Asp1523Gly) n.9748A>G n.3213A>G c.5408A>G (p.Asp1803Gly) c.5492A>G (p.Asp1831Gly) c.5540A>G (p.Asp1847Gly) c.4514A>G (p.Asp1505Gly) c.4095A>G c.3656A>G (p.Asp1219Gly) c.*1473A>G (n.*1473A>G) c.4809A>G c.5582A>G (p.Asp1861Gly) c.5579A>G (p.Asp1860Gly) c.5534A>G (p.Asp1845Gly) c.4658A>G (p.Asp1553Gly) c.4427A>G (p.Asp1476Gly) | |
10 | g.94304563A>T | CA377642993 | PLCE1 | c.4616A>T (p.Asp1539Val) c.*2083A>T (n.*2083A>T) n.2275A>T n.959A>T c.*824A>T (n.*824A>T) c.4568A>T (p.Asp1523Val) n.9748A>T n.3213A>T c.5408A>T (p.Asp1803Val) c.5492A>T (p.Asp1831Val) c.5540A>T (p.Asp1847Val) c.4514A>T (p.Asp1505Val) c.4095A>T c.3656A>T (p.Asp1219Val) c.*1473A>T (n.*1473A>T) c.4809A>T c.5582A>T (p.Asp1861Val) c.5579A>T (p.Asp1860Val) c.5534A>T (p.Asp1845Val) c.4658A>T (p.Asp1553Val) c.4427A>T (p.Asp1476Val) | |
10 | g.94304564C>A | CA377642996 | PLCE1 | c.4617C>A (p.Asp1539Glu) c.*2084C>A (n.*2084C>A) n.2276C>A n.960C>A c.*825C>A (n.*825C>A) c.4569C>A (p.Asp1523Glu) n.9749C>A n.3214C>A c.5409C>A (p.Asp1803Glu) c.5493C>A (p.Asp1831Glu) c.5541C>A (p.Asp1847Glu) c.4515C>A (p.Asp1505Glu) c.4096C>A c.3657C>A (p.Asp1219Glu) c.*1474C>A (n.*1474C>A) c.4810C>A c.5583C>A (p.Asp1861Glu) c.5580C>A (p.Asp1860Glu) c.5535C>A (p.Asp1845Glu) c.4659C>A (p.Asp1553Glu) c.4428C>A (p.Asp1476Glu) | |
10 | g.94304564C>G | CA377642995 | PLCE1 | c.4617C>G (p.Asp1539Glu) c.*2084C>G (n.*2084C>G) n.2276C>G n.960C>G c.*825C>G (n.*825C>G) c.4569C>G (p.Asp1523Glu) n.9749C>G n.3214C>G c.5409C>G (p.Asp1803Glu) c.5493C>G (p.Asp1831Glu) c.5541C>G (p.Asp1847Glu) c.4515C>G (p.Asp1505Glu) c.4096C>G c.3657C>G (p.Asp1219Glu) c.*1474C>G (n.*1474C>G) c.4810C>G c.5583C>G (p.Asp1861Glu) c.5580C>G (p.Asp1860Glu) c.5535C>G (p.Asp1845Glu) c.4659C>G (p.Asp1553Glu) c.4428C>G (p.Asp1476Glu) | |
10 | g.94304564C>T | CA470808602 | PLCE1 | c.4617C>T (p.Asp1539=) c.*2084C>T (n.*2084C>T) n.2276C>T n.960C>T c.*825C>T (n.*825C>T) c.4569C>T (p.Asp1523=) n.9749C>T n.3214C>T c.5409C>T (p.Asp1803=) c.5493C>T (p.Asp1831=) c.5541C>T (p.Asp1847=) c.4515C>T (p.Asp1505=) c.4096C>T c.3657C>T (p.Asp1219=) c.*1474C>T (n.*1474C>T) c.4810C>T c.5583C>T (p.Asp1861=) c.5580C>T (p.Asp1860=) c.5535C>T (p.Asp1845=) c.4659C>T (p.Asp1553=) c.4428C>T (p.Asp1476=) | |
10 | g.94304565A>C | CA377642998 | PLCE1 | c.4618A>C (p.Lys1540Gln) c.*2085A>C (n.*2085A>C) n.2277A>C n.961A>C c.*826A>C (n.*826A>C) c.4570A>C (p.Lys1524Gln) n.9750A>C n.3215A>C c.5410A>C (p.Lys1804Gln) c.5494A>C (p.Lys1832Gln) c.5542A>C (p.Lys1848Gln) c.4516A>C (p.Lys1506Gln) c.4097A>C c.3658A>C (p.Lys1220Gln) c.*1475A>C (n.*1475A>C) c.4811A>C c.5584A>C (p.Lys1862Gln) c.5581A>C (p.Lys1861Gln) c.5536A>C (p.Lys1846Gln) c.4660A>C (p.Lys1554Gln) c.4429A>C (p.Lys1477Gln) | |
10 | g.94304565A>G | CA377643000 | PLCE1 | c.4618A>G (p.Lys1540Glu) c.*2085A>G (n.*2085A>G) n.2277A>G n.961A>G c.*826A>G (n.*826A>G) c.4570A>G (p.Lys1524Glu) n.9750A>G n.3215A>G c.5410A>G (p.Lys1804Glu) c.5494A>G (p.Lys1832Glu) c.5542A>G (p.Lys1848Glu) c.4516A>G (p.Lys1506Glu) c.4097A>G c.3658A>G (p.Lys1220Glu) c.*1475A>G (n.*1475A>G) c.4811A>G c.5584A>G (p.Lys1862Glu) c.5581A>G (p.Lys1861Glu) c.5536A>G (p.Lys1846Glu) c.4660A>G (p.Lys1554Glu) c.4429A>G (p.Lys1477Glu) | gnomAD v4 |
10 | g.94304565A>T | CA377643002 | PLCE1 | c.4618A>T (p.Lys1540Ter) c.*2085A>T (n.*2085A>T) n.2277A>T n.961A>T c.*826A>T (n.*826A>T) c.4570A>T (p.Lys1524Ter) n.9750A>T n.3215A>T c.5410A>T (p.Lys1804Ter) c.5494A>T (p.Lys1832Ter) c.5542A>T (p.Lys1848Ter) c.4516A>T (p.Lys1506Ter) c.4097A>T c.3658A>T (p.Lys1220Ter) c.*1475A>T (n.*1475A>T) c.4811A>T c.5584A>T (p.Lys1862Ter) c.5581A>T (p.Lys1861Ter) c.5536A>T (p.Lys1846Ter) c.4660A>T (p.Lys1554Ter) c.4429A>T (p.Lys1477Ter) | |
10 | g.94304566A= | CA1929000779 | PLCE1 | c.4619A= (p.Lys1540=) c.*2086A= (n.*2086A=) n.2278A= n.962A= c.*827A= (n.*827A=) c.4571A= (p.Lys1524=) n.9751A= n.3216A= c.5411A= (p.Lys1804=) c.5495A= (p.Lys1832=) c.5543A= (p.Lys1848=) c.4517A= (p.Lys1506=) c.4098A= c.3659A= (p.Lys1220=) c.*1476A= (n.*1476A=) c.4812A= c.5585A= (p.Lys1862=) c.5582A= (p.Lys1861=) c.5537A= (p.Lys1846=) c.4661A= (p.Lys1554=) c.4430A= (p.Lys1477=) | |
10 | g.94304566A>C | CA377643005 | PLCE1 | c.4619A>C (p.Lys1540Thr) c.*2086A>C (n.*2086A>C) n.2278A>C n.962A>C c.*827A>C (n.*827A>C) c.4571A>C (p.Lys1524Thr) n.9751A>C n.3216A>C c.5411A>C (p.Lys1804Thr) c.5495A>C (p.Lys1832Thr) c.5543A>C (p.Lys1848Thr) c.4517A>C (p.Lys1506Thr) c.4098A>C c.3659A>C (p.Lys1220Thr) c.*1476A>C (n.*1476A>C) c.4812A>C c.5585A>C (p.Lys1862Thr) c.5582A>C (p.Lys1861Thr) c.5537A>C (p.Lys1846Thr) c.4661A>C (p.Lys1554Thr) c.4430A>C (p.Lys1477Thr) | |
10 | g.94304566A>G | CA377643006 | PLCE1 | c.4619A>G (p.Lys1540Arg) c.*2086A>G (n.*2086A>G) n.2278A>G n.962A>G c.*827A>G (n.*827A>G) c.4571A>G (p.Lys1524Arg) n.9751A>G n.3216A>G c.5411A>G (p.Lys1804Arg) c.5495A>G (p.Lys1832Arg) c.5543A>G (p.Lys1848Arg) c.4517A>G (p.Lys1506Arg) c.4098A>G c.3659A>G (p.Lys1220Arg) c.*1476A>G (n.*1476A>G) c.4812A>G c.5585A>G (p.Lys1862Arg) c.5582A>G (p.Lys1861Arg) c.5537A>G (p.Lys1846Arg) c.4661A>G (p.Lys1554Arg) c.4430A>G (p.Lys1477Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94304566A>T | CA377643008 | PLCE1 | c.4619A>T (p.Lys1540Met) c.*2086A>T (n.*2086A>T) n.2278A>T n.962A>T c.*827A>T (n.*827A>T) c.4571A>T (p.Lys1524Met) n.9751A>T n.3216A>T c.5411A>T (p.Lys1804Met) c.5495A>T (p.Lys1832Met) c.5543A>T (p.Lys1848Met) c.4517A>T (p.Lys1506Met) c.4098A>T c.3659A>T (p.Lys1220Met) c.*1476A>T (n.*1476A>T) c.4812A>T c.5585A>T (p.Lys1862Met) c.5582A>T (p.Lys1861Met) c.5537A>T (p.Lys1846Met) c.4661A>T (p.Lys1554Met) c.4430A>T (p.Lys1477Met) | |
10 | g.94304567G>A | CA211603940 | PLCE1 | c.4620G>A (p.Lys1540=) c.*2087G>A (n.*2087G>A) n.2279G>A n.963G>A c.*828G>A (n.*828G>A) c.4572G>A (p.Lys1524=) n.9752G>A n.3217G>A c.5412G>A (p.Lys1804=) c.5496G>A (p.Lys1832=) c.5544G>A (p.Lys1848=) c.4518G>A (p.Lys1506=) c.4099G>A c.3660G>A (p.Lys1220=) c.*1477G>A (n.*1477G>A) c.4813G>A c.5586G>A (p.Lys1862=) c.5583G>A (p.Lys1861=) c.5538G>A (p.Lys1846=) c.4662G>A (p.Lys1554=) c.4431G>A (p.Lys1477=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94304567G>C | CA377643011 | PLCE1 | c.4620G>C (p.Lys1540Asn) c.*2087G>C (n.*2087G>C) n.2279G>C n.963G>C c.*828G>C (n.*828G>C) c.4572G>C (p.Lys1524Asn) n.9752G>C n.3217G>C c.5412G>C (p.Lys1804Asn) c.5496G>C (p.Lys1832Asn) c.5544G>C (p.Lys1848Asn) c.4518G>C (p.Lys1506Asn) c.4099G>C c.3660G>C (p.Lys1220Asn) c.*1477G>C (n.*1477G>C) c.4813G>C c.5586G>C (p.Lys1862Asn) c.5583G>C (p.Lys1861Asn) c.5538G>C (p.Lys1846Asn) c.4662G>C (p.Lys1554Asn) c.4431G>C (p.Lys1477Asn) | |
10 | g.94304567G= | CA1929000780 | PLCE1 | c.4620G= (p.Lys1540=) c.*2087G= (n.*2087G=) n.2279G= n.963G= c.*828G= (n.*828G=) c.4572G= (p.Lys1524=) n.9752G= n.3217G= c.5412G= (p.Lys1804=) c.5496G= (p.Lys1832=) c.5544G= (p.Lys1848=) c.4518G= (p.Lys1506=) c.4099G= c.3660G= (p.Lys1220=) c.*1477G= (n.*1477G=) c.4813G= c.5586G= (p.Lys1862=) c.5583G= (p.Lys1861=) c.5538G= (p.Lys1846=) c.4662G= (p.Lys1554=) c.4431G= (p.Lys1477=) | |
10 | g.94304567G>T | CA377643012 | PLCE1 | c.4620G>T (p.Lys1540Asn) c.*2087G>T (n.*2087G>T) n.2279G>T n.963G>T c.*828G>T (n.*828G>T) c.4572G>T (p.Lys1524Asn) n.9752G>T n.3217G>T c.5412G>T (p.Lys1804Asn) c.5496G>T (p.Lys1832Asn) c.5544G>T (p.Lys1848Asn) c.4518G>T (p.Lys1506Asn) c.4099G>T c.3660G>T (p.Lys1220Asn) c.*1477G>T (n.*1477G>T) c.4813G>T c.5586G>T (p.Lys1862Asn) c.5583G>T (p.Lys1861Asn) c.5538G>T (p.Lys1846Asn) c.4662G>T (p.Lys1554Asn) c.4431G>T (p.Lys1477Asn) | |
10 | g.94304568A>C | CA377643014 | PLCE1 | c.4621A>C (p.Asn1541His) c.*2088A>C (n.*2088A>C) n.2280A>C n.964A>C c.*829A>C (n.*829A>C) c.4573A>C (p.Asn1525His) n.9753A>C n.3218A>C c.5413A>C (p.Asn1805His) c.5497A>C (p.Asn1833His) c.5545A>C (p.Asn1849His) c.4519A>C (p.Asn1507His) c.4100A>C c.3661A>C (p.Asn1221His) c.*1478A>C (n.*1478A>C) c.4814A>C c.5587A>C (p.Asn1863His) c.5584A>C (p.Asn1862His) c.5539A>C (p.Asn1847His) c.4663A>C (p.Asn1555His) c.4432A>C (p.Asn1478His) | |
10 | g.94304568A>G | CA377643016 | PLCE1 | c.4621A>G (p.Asn1541Asp) c.*2088A>G (n.*2088A>G) n.2280A>G n.964A>G c.*829A>G (n.*829A>G) c.4573A>G (p.Asn1525Asp) n.9753A>G n.3218A>G c.5413A>G (p.Asn1805Asp) c.5497A>G (p.Asn1833Asp) c.5545A>G (p.Asn1849Asp) c.4519A>G (p.Asn1507Asp) c.4100A>G c.3661A>G (p.Asn1221Asp) c.*1478A>G (n.*1478A>G) c.4814A>G c.5587A>G (p.Asn1863Asp) c.5584A>G (p.Asn1862Asp) c.5539A>G (p.Asn1847Asp) c.4663A>G (p.Asn1555Asp) c.4432A>G (p.Asn1478Asp) | |
10 | g.94304568A>T | CA377643018 | PLCE1 | c.4621A>T (p.Asn1541Tyr) c.*2088A>T (n.*2088A>T) n.2280A>T n.964A>T c.*829A>T (n.*829A>T) c.4573A>T (p.Asn1525Tyr) n.9753A>T n.3218A>T c.5413A>T (p.Asn1805Tyr) c.5497A>T (p.Asn1833Tyr) c.5545A>T (p.Asn1849Tyr) c.4519A>T (p.Asn1507Tyr) c.4100A>T c.3661A>T (p.Asn1221Tyr) c.*1478A>T (n.*1478A>T) c.4814A>T c.5587A>T (p.Asn1863Tyr) c.5584A>T (p.Asn1862Tyr) c.5539A>T (p.Asn1847Tyr) c.4663A>T (p.Asn1555Tyr) c.4432A>T (p.Asn1478Tyr) | |
10 | g.94304569A>C | CA377643024 | PLCE1 | c.4622A>C (p.Asn1541Thr) c.*2089A>C (n.*2089A>C) n.2281A>C n.965A>C c.*830A>C (n.*830A>C) c.4574A>C (p.Asn1525Thr) n.9754A>C n.3219A>C c.5414A>C (p.Asn1805Thr) c.5498A>C (p.Asn1833Thr) c.5546A>C (p.Asn1849Thr) c.4520A>C (p.Asn1507Thr) c.4101A>C c.3662A>C (p.Asn1221Thr) c.*1479A>C (n.*1479A>C) c.4815A>C c.5588A>C (p.Asn1863Thr) c.5585A>C (p.Asn1862Thr) c.5540A>C (p.Asn1847Thr) c.4664A>C (p.Asn1555Thr) c.4433A>C (p.Asn1478Thr) | |
10 | g.94304569A>G | CA377643022 | PLCE1 | c.4622A>G (p.Asn1541Ser) c.*2089A>G (n.*2089A>G) n.2281A>G n.965A>G c.*830A>G (n.*830A>G) c.4574A>G (p.Asn1525Ser) n.9754A>G n.3219A>G c.5414A>G (p.Asn1805Ser) c.5498A>G (p.Asn1833Ser) c.5546A>G (p.Asn1849Ser) c.4520A>G (p.Asn1507Ser) c.4101A>G c.3662A>G (p.Asn1221Ser) c.*1479A>G (n.*1479A>G) c.4815A>G c.5588A>G (p.Asn1863Ser) c.5585A>G (p.Asn1862Ser) c.5540A>G (p.Asn1847Ser) c.4664A>G (p.Asn1555Ser) c.4433A>G (p.Asn1478Ser) | |
10 | g.94304569A>T | CA377643020 | PLCE1 | c.4622A>T (p.Asn1541Ile) c.*2089A>T (n.*2089A>T) n.2281A>T n.965A>T c.*830A>T (n.*830A>T) c.4574A>T (p.Asn1525Ile) n.9754A>T n.3219A>T c.5414A>T (p.Asn1805Ile) c.5498A>T (p.Asn1833Ile) c.5546A>T (p.Asn1849Ile) c.4520A>T (p.Asn1507Ile) c.4101A>T c.3662A>T (p.Asn1221Ile) c.*1479A>T (n.*1479A>T) c.4815A>T c.5588A>T (p.Asn1863Ile) c.5585A>T (p.Asn1862Ile) c.5540A>T (p.Asn1847Ile) c.4664A>T (p.Asn1555Ile) c.4433A>T (p.Asn1478Ile) | |
10 | g.94304570C>A | CA377643025 | PLCE1 | c.4623C>A (p.Asn1541Lys) c.*2090C>A (n.*2090C>A) n.2282C>A n.966C>A c.*831C>A (n.*831C>A) c.4575C>A (p.Asn1525Lys) n.9755C>A n.3220C>A c.5415C>A (p.Asn1805Lys) c.5499C>A (p.Asn1833Lys) c.5547C>A (p.Asn1849Lys) c.4521C>A (p.Asn1507Lys) c.4102C>A c.3663C>A (p.Asn1221Lys) c.*1480C>A (n.*1480C>A) c.4816C>A c.5589C>A (p.Asn1863Lys) c.5586C>A (p.Asn1862Lys) c.5541C>A (p.Asn1847Lys) c.4665C>A (p.Asn1555Lys) c.4434C>A (p.Asn1478Lys) | |
10 | g.94304570C= | CA1929000781 | PLCE1 | c.4623C= (p.Asn1541=) c.*2090C= (n.*2090C=) n.2282C= n.966C= c.*831C= (n.*831C=) c.4575C= (p.Asn1525=) n.9755C= n.3220C= c.5415C= (p.Asn1805=) c.5499C= (p.Asn1833=) c.5547C= (p.Asn1849=) c.4521C= (p.Asn1507=) c.4102C= c.3663C= (p.Asn1221=) c.*1480C= (n.*1480C=) c.4816C= c.5589C= (p.Asn1863=) c.5586C= (p.Asn1862=) c.5541C= (p.Asn1847=) c.4665C= (p.Asn1555=) c.4434C= (p.Asn1478=) | |
10 | g.94304570C>G | CA5613381 | PLCE1 | c.4623C>G (p.Asn1541Lys) c.*2090C>G (n.*2090C>G) n.2282C>G n.966C>G c.*831C>G (n.*831C>G) c.4575C>G (p.Asn1525Lys) n.9755C>G n.3220C>G c.5415C>G (p.Asn1805Lys) c.5499C>G (p.Asn1833Lys) c.5547C>G (p.Asn1849Lys) c.4521C>G (p.Asn1507Lys) c.4102C>G c.3663C>G (p.Asn1221Lys) c.*1480C>G (n.*1480C>G) c.4816C>G c.5589C>G (p.Asn1863Lys) c.5586C>G (p.Asn1862Lys) c.5541C>G (p.Asn1847Lys) c.4665C>G (p.Asn1555Lys) c.4434C>G (p.Asn1478Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94304570C>T | CA470808604 | PLCE1 | c.4623C>T (p.Asn1541=) c.*2090C>T (n.*2090C>T) n.2282C>T n.966C>T c.*831C>T (n.*831C>T) c.4575C>T (p.Asn1525=) n.9755C>T n.3220C>T c.5415C>T (p.Asn1805=) c.5499C>T (p.Asn1833=) c.5547C>T (p.Asn1849=) c.4521C>T (p.Asn1507=) c.4102C>T c.3663C>T (p.Asn1221=) c.*1480C>T (n.*1480C>T) c.4816C>T c.5589C>T (p.Asn1863=) c.5586C>T (p.Asn1862=) c.5541C>T (p.Asn1847=) c.4665C>T (p.Asn1555=) c.4434C>T (p.Asn1478=) | |
10 | g.94304571T>A | CA377643029 | PLCE1 | c.4624T>A (p.Cys1542Ser) c.*2091T>A (n.*2091T>A) n.2283T>A n.967T>A c.*832T>A (n.*832T>A) c.4576T>A (p.Cys1526Ser) n.9756T>A n.3221T>A c.5416T>A (p.Cys1806Ser) c.5500T>A (p.Cys1834Ser) c.5548T>A (p.Cys1850Ser) c.4522T>A (p.Cys1508Ser) c.4103T>A c.3664T>A (p.Cys1222Ser) c.*1481T>A (n.*1481T>A) c.4817T>A c.5590T>A (p.Cys1864Ser) c.5587T>A (p.Cys1863Ser) c.5542T>A (p.Cys1848Ser) c.4666T>A (p.Cys1556Ser) c.4435T>A (p.Cys1479Ser) | |
10 | g.94304571T>C | CA377643031 | PLCE1 | c.4624T>C (p.Cys1542Arg) c.*2091T>C (n.*2091T>C) n.2283T>C n.967T>C c.*832T>C (n.*832T>C) c.4576T>C (p.Cys1526Arg) n.9756T>C n.3221T>C c.5416T>C (p.Cys1806Arg) c.5500T>C (p.Cys1834Arg) c.5548T>C (p.Cys1850Arg) c.4522T>C (p.Cys1508Arg) c.4103T>C c.3664T>C (p.Cys1222Arg) c.*1481T>C (n.*1481T>C) c.4817T>C c.5590T>C (p.Cys1864Arg) c.5587T>C (p.Cys1863Arg) c.5542T>C (p.Cys1848Arg) c.4666T>C (p.Cys1556Arg) c.4435T>C (p.Cys1479Arg) | |
10 | g.94304571T>G | CA377643033 | PLCE1 | c.4624T>G (p.Cys1542Gly) c.*2091T>G (n.*2091T>G) n.2283T>G n.967T>G c.*832T>G (n.*832T>G) c.4576T>G (p.Cys1526Gly) n.9756T>G n.3221T>G c.5416T>G (p.Cys1806Gly) c.5500T>G (p.Cys1834Gly) c.5548T>G (p.Cys1850Gly) c.4522T>G (p.Cys1508Gly) c.4103T>G c.3664T>G (p.Cys1222Gly) c.*1481T>G (n.*1481T>G) c.4817T>G c.5590T>G (p.Cys1864Gly) c.5587T>G (p.Cys1863Gly) c.5542T>G (p.Cys1848Gly) c.4666T>G (p.Cys1556Gly) c.4435T>G (p.Cys1479Gly) | |
10 | g.94304572G>A | CA5613382 | PLCE1 | c.4625G>A (p.Cys1542Tyr) c.*2092G>A (n.*2092G>A) n.2284G>A n.968G>A c.*833G>A (n.*833G>A) c.4577G>A (p.Cys1526Tyr) n.9757G>A n.3222G>A c.5417G>A (p.Cys1806Tyr) c.5501G>A (p.Cys1834Tyr) c.5549G>A (p.Cys1850Tyr) c.4523G>A (p.Cys1508Tyr) c.4104G>A c.3665G>A (p.Cys1222Tyr) c.*1482G>A (n.*1482G>A) c.4818G>A c.5591G>A (p.Cys1864Tyr) c.5588G>A (p.Cys1863Tyr) c.5543G>A (p.Cys1848Tyr) c.4667G>A (p.Cys1556Tyr) c.4436G>A (p.Cys1479Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94304572G>C | CA377643035 | PLCE1 | c.4625G>C (p.Cys1542Ser) c.*2092G>C (n.*2092G>C) n.2284G>C n.968G>C c.*833G>C (n.*833G>C) c.4577G>C (p.Cys1526Ser) n.9757G>C n.3222G>C c.5417G>C (p.Cys1806Ser) c.5501G>C (p.Cys1834Ser) c.5549G>C (p.Cys1850Ser) c.4523G>C (p.Cys1508Ser) c.4104G>C c.3665G>C (p.Cys1222Ser) c.*1482G>C (n.*1482G>C) c.4818G>C c.5591G>C (p.Cys1864Ser) c.5588G>C (p.Cys1863Ser) c.5543G>C (p.Cys1848Ser) c.4667G>C (p.Cys1556Ser) c.4436G>C (p.Cys1479Ser) | |
10 | g.94304572G= | CA1929000782 | PLCE1 | c.4625G= (p.Cys1542=) c.*2092G= (n.*2092G=) n.2284G= n.968G= c.*833G= (n.*833G=) c.4577G= (p.Cys1526=) n.9757G= n.3222G= c.5417G= (p.Cys1806=) c.5501G= (p.Cys1834=) c.5549G= (p.Cys1850=) c.4523G= (p.Cys1508=) c.4104G= c.3665G= (p.Cys1222=) c.*1482G= (n.*1482G=) c.4818G= c.5591G= (p.Cys1864=) c.5588G= (p.Cys1863=) c.5543G= (p.Cys1848=) c.4667G= (p.Cys1556=) c.4436G= (p.Cys1479=) | |
10 | g.94304572G>T | CA377643037 | PLCE1 | c.4625G>T (p.Cys1542Phe) c.*2092G>T (n.*2092G>T) n.2284G>T n.968G>T c.*833G>T (n.*833G>T) c.4577G>T (p.Cys1526Phe) n.9757G>T n.3222G>T c.5417G>T (p.Cys1806Phe) c.5501G>T (p.Cys1834Phe) c.5549G>T (p.Cys1850Phe) c.4523G>T (p.Cys1508Phe) c.4104G>T c.3665G>T (p.Cys1222Phe) c.*1482G>T (n.*1482G>T) c.4818G>T c.5591G>T (p.Cys1864Phe) c.5588G>T (p.Cys1863Phe) c.5543G>T (p.Cys1848Phe) c.4667G>T (p.Cys1556Phe) c.4436G>T (p.Cys1479Phe) | |
10 | g.94304573C>A | CA377643040 | PLCE1 | c.4626C>A (p.Cys1542Ter) c.*2093C>A (n.*2093C>A) n.2285C>A n.969C>A c.*834C>A (n.*834C>A) c.4578C>A (p.Cys1526Ter) n.9758C>A n.3223C>A c.5418C>A (p.Cys1806Ter) c.5502C>A (p.Cys1834Ter) c.5550C>A (p.Cys1850Ter) c.4524C>A (p.Cys1508Ter) c.4105C>A c.3666C>A (p.Cys1222Ter) c.*1483C>A (n.*1483C>A) c.4819C>A c.5592C>A (p.Cys1864Ter) c.5589C>A (p.Cys1863Ter) c.5544C>A (p.Cys1848Ter) c.4668C>A (p.Cys1556Ter) c.4437C>A (p.Cys1479Ter) | |
10 | g.94304573C>G | CA377643041 | PLCE1 | c.4626C>G (p.Cys1542Trp) c.*2093C>G (n.*2093C>G) n.2285C>G n.969C>G c.*834C>G (n.*834C>G) c.4578C>G (p.Cys1526Trp) n.9758C>G n.3223C>G c.5418C>G (p.Cys1806Trp) c.5502C>G (p.Cys1834Trp) c.5550C>G (p.Cys1850Trp) c.4524C>G (p.Cys1508Trp) c.4105C>G c.3666C>G (p.Cys1222Trp) c.*1483C>G (n.*1483C>G) c.4819C>G c.5592C>G (p.Cys1864Trp) c.5589C>G (p.Cys1863Trp) c.5544C>G (p.Cys1848Trp) c.4668C>G (p.Cys1556Trp) c.4437C>G (p.Cys1479Trp) | |
10 | g.94304573C>T | CA470808606 | PLCE1 | c.4626C>T (p.Cys1542=) c.*2093C>T (n.*2093C>T) n.2285C>T n.969C>T c.*834C>T (n.*834C>T) c.4578C>T (p.Cys1526=) n.9758C>T n.3223C>T c.5418C>T (p.Cys1806=) c.5502C>T (p.Cys1834=) c.5550C>T (p.Cys1850=) c.4524C>T (p.Cys1508=) c.4105C>T c.3666C>T (p.Cys1222=) c.*1483C>T (n.*1483C>T) c.4819C>T c.5592C>T (p.Cys1864=) c.5589C>T (p.Cys1863=) c.5544C>T (p.Cys1848=) c.4668C>T (p.Cys1556=) c.4437C>T (p.Cys1479=) | |
10 | g.94304574C>A | CA377643043 | PLCE1 | c.4627C>A (p.Pro1543Thr) c.*2094C>A (n.*2094C>A) n.2286C>A n.970C>A c.*835C>A (n.*835C>A) c.4579C>A (p.Pro1527Thr) n.9759C>A n.3224C>A c.5419C>A (p.Pro1807Thr) c.5503C>A (p.Pro1835Thr) c.5551C>A (p.Pro1851Thr) c.4525C>A (p.Pro1509Thr) c.4106C>A c.3667C>A (p.Pro1223Thr) c.*1484C>A (n.*1484C>A) c.4820C>A c.5593C>A (p.Pro1865Thr) c.5590C>A (p.Pro1864Thr) c.5545C>A (p.Pro1849Thr) c.4669C>A (p.Pro1557Thr) c.4438C>A (p.Pro1480Thr) | |
10 | g.94304574C= | CA1929000783 | PLCE1 | c.4627C= (p.Pro1543=) c.*2094C= (n.*2094C=) n.2286C= n.970C= c.*835C= (n.*835C=) c.4579C= (p.Pro1527=) n.9759C= n.3224C= c.5419C= (p.Pro1807=) c.5503C= (p.Pro1835=) c.5551C= (p.Pro1851=) c.4525C= (p.Pro1509=) c.4106C= c.3667C= (p.Pro1223=) c.*1484C= (n.*1484C=) c.4820C= c.5593C= (p.Pro1865=) c.5590C= (p.Pro1864=) c.5545C= (p.Pro1849=) c.4669C= (p.Pro1557=) c.4438C= (p.Pro1480=) | |
10 | g.94304574C>G | CA377643045 | PLCE1 | c.4627C>G (p.Pro1543Ala) c.*2094C>G (n.*2094C>G) n.2286C>G n.970C>G c.*835C>G (n.*835C>G) c.4579C>G (p.Pro1527Ala) n.9759C>G n.3224C>G c.5419C>G (p.Pro1807Ala) c.5503C>G (p.Pro1835Ala) c.5551C>G (p.Pro1851Ala) c.4525C>G (p.Pro1509Ala) c.4106C>G c.3667C>G (p.Pro1223Ala) c.*1484C>G (n.*1484C>G) c.4820C>G c.5593C>G (p.Pro1865Ala) c.5590C>G (p.Pro1864Ala) c.5545C>G (p.Pro1849Ala) c.4669C>G (p.Pro1557Ala) c.4438C>G (p.Pro1480Ala) | |
10 | g.94304574C>T | CA377643047 | PLCE1 | c.4627C>T (p.Pro1543Ser) c.*2094C>T (n.*2094C>T) n.2286C>T n.970C>T c.*835C>T (n.*835C>T) c.4579C>T (p.Pro1527Ser) n.9759C>T n.3224C>T c.5419C>T (p.Pro1807Ser) c.5503C>T (p.Pro1835Ser) c.5551C>T (p.Pro1851Ser) c.4525C>T (p.Pro1509Ser) c.4106C>T c.3667C>T (p.Pro1223Ser) c.*1484C>T (n.*1484C>T) c.4820C>T c.5593C>T (p.Pro1865Ser) c.5590C>T (p.Pro1864Ser) c.5545C>T (p.Pro1849Ser) c.4669C>T (p.Pro1557Ser) c.4438C>T (p.Pro1480Ser) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94304574_94304575delinsTT | CA645550161 | PLCE1 | c.4627_4628delinsTT (p.Pro1543Phe) c.*2094_*2095delinsTT (n.*2094_*2095delinsTT) n.2286_2287delinsTT n.970_971delinsTT c.*835_*836delinsTT (n.*835_*836delinsTT) c.4579_4580delinsTT (p.Pro1527Phe) n.9759_9760delinsTT n.3224_3225delinsTT c.5419_5420delinsTT (p.Pro1807Phe) c.5503_5504delinsTT (p.Pro1835Phe) c.5551_5552delinsTT (p.Pro1851Phe) c.4525_4526delinsTT (p.Pro1509Phe) c.4106_4107delinsTT c.3667_3668delinsTT (p.Pro1223Phe) c.*1484_*1485delinsTT (n.*1484_*1485delinsTT) c.4820_4821delinsTT c.5593_5594delinsTT (p.Pro1865Phe) c.5590_5591delinsTT (p.Pro1864Phe) c.5545_5546delinsTT (p.Pro1849Phe) c.4669_4670delinsTT (p.Pro1557Phe) c.4438_4439delinsTT (p.Pro1480Phe) | COSMIC COSMIC COSMIC |
10 | g.94304575C>A | CA377643053 | PLCE1 | c.4628C>A (p.Pro1543His) c.*2095C>A (n.*2095C>A) n.2287C>A n.971C>A c.*836C>A (n.*836C>A) c.4580C>A (p.Pro1527His) n.9760C>A n.3225C>A c.5420C>A (p.Pro1807His) c.5504C>A (p.Pro1835His) c.5552C>A (p.Pro1851His) c.4526C>A (p.Pro1509His) c.4107C>A c.3668C>A (p.Pro1223His) c.*1485C>A (n.*1485C>A) c.4821C>A c.5594C>A (p.Pro1865His) c.5591C>A (p.Pro1864His) c.5546C>A (p.Pro1849His) c.4670C>A (p.Pro1557His) c.4439C>A (p.Pro1480His) | |
10 | g.94304575C>G | CA377643049 | PLCE1 | c.4628C>G (p.Pro1543Arg) c.*2095C>G (n.*2095C>G) n.2287C>G n.971C>G c.*836C>G (n.*836C>G) c.4580C>G (p.Pro1527Arg) n.9760C>G n.3225C>G c.5420C>G (p.Pro1807Arg) c.5504C>G (p.Pro1835Arg) c.5552C>G (p.Pro1851Arg) c.4526C>G (p.Pro1509Arg) c.4107C>G c.3668C>G (p.Pro1223Arg) c.*1485C>G (n.*1485C>G) c.4821C>G c.5594C>G (p.Pro1865Arg) c.5591C>G (p.Pro1864Arg) c.5546C>G (p.Pro1849Arg) c.4670C>G (p.Pro1557Arg) c.4439C>G (p.Pro1480Arg) | |
10 | g.94304575C>T | CA377643051 | PLCE1 | c.4628C>T (p.Pro1543Leu) c.*2095C>T (n.*2095C>T) n.2287C>T n.971C>T c.*836C>T (n.*836C>T) c.4580C>T (p.Pro1527Leu) n.9760C>T n.3225C>T c.5420C>T (p.Pro1807Leu) c.5504C>T (p.Pro1835Leu) c.5552C>T (p.Pro1851Leu) c.4526C>T (p.Pro1509Leu) c.4107C>T c.3668C>T (p.Pro1223Leu) c.*1485C>T (n.*1485C>T) c.4821C>T c.5594C>T (p.Pro1865Leu) c.5591C>T (p.Pro1864Leu) c.5546C>T (p.Pro1849Leu) c.4670C>T (p.Pro1557Leu) c.4439C>T (p.Pro1480Leu) | |
10 | g.94304576C>A | CA470808609 | PLCE1 | c.4629C>A (p.Pro1543=) c.*2096C>A (n.*2096C>A) n.2288C>A n.972C>A c.*837C>A (n.*837C>A) c.4581C>A (p.Pro1527=) n.9761C>A n.3226C>A c.5421C>A (p.Pro1807=) c.5505C>A (p.Pro1835=) c.5553C>A (p.Pro1851=) c.4527C>A (p.Pro1509=) c.4108C>A c.3669C>A (p.Pro1223=) c.*1486C>A (n.*1486C>A) c.4822C>A c.5595C>A (p.Pro1865=) c.5592C>A (p.Pro1864=) c.5547C>A (p.Pro1849=) c.4671C>A (p.Pro1557=) c.4440C>A (p.Pro1480=) | |
10 | g.94304576C>G | CA470808608 | PLCE1 | c.4629C>G (p.Pro1543=) c.*2096C>G (n.*2096C>G) n.2288C>G n.972C>G c.*837C>G (n.*837C>G) c.4581C>G (p.Pro1527=) n.9761C>G n.3226C>G c.5421C>G (p.Pro1807=) c.5505C>G (p.Pro1835=) c.5553C>G (p.Pro1851=) c.4527C>G (p.Pro1509=) c.4108C>G c.3669C>G (p.Pro1223=) c.*1486C>G (n.*1486C>G) c.4822C>G c.5595C>G (p.Pro1865=) c.5592C>G (p.Pro1864=) c.5547C>G (p.Pro1849=) c.4671C>G (p.Pro1557=) c.4440C>G (p.Pro1480=) | |
10 | g.94304576C>T | CA470808607 | PLCE1 | c.4629C>T (p.Pro1543=) c.*2096C>T (n.*2096C>T) n.2288C>T n.972C>T c.*837C>T (n.*837C>T) c.4581C>T (p.Pro1527=) n.9761C>T n.3226C>T c.5421C>T (p.Pro1807=) c.5505C>T (p.Pro1835=) c.5553C>T (p.Pro1851=) c.4527C>T (p.Pro1509=) c.4108C>T c.3669C>T (p.Pro1223=) c.*1486C>T (n.*1486C>T) c.4822C>T c.5595C>T (p.Pro1865=) c.5592C>T (p.Pro1864=) c.5547C>T (p.Pro1849=) c.4671C>T (p.Pro1557=) c.4440C>T (p.Pro1480=) | dbSNP gnomAD v4 |
10 | g.94304577A= | CA1929000784 | PLCE1 | c.4630A= (p.Met1544=) c.*2097A= (n.*2097A=) n.2289A= n.973A= c.*838A= (n.*838A=) c.4582A= (p.Met1528=) n.9762A= n.3227A= c.5422A= (p.Met1808=) c.5506A= (p.Met1836=) c.5554A= (p.Met1852=) c.4528A= (p.Met1510=) c.4109A= c.3670A= (p.Met1224=) c.*1487A= (n.*1487A=) c.4823A= c.5596A= (p.Met1866=) c.5593A= (p.Met1865=) c.5548A= (p.Met1850=) c.4672A= (p.Met1558=) c.4441A= (p.Met1481=) | |
10 | g.94304577A>C | CA377643055 | PLCE1 | c.4630A>C (p.Met1544Leu) c.*2097A>C (n.*2097A>C) n.2289A>C n.973A>C c.*838A>C (n.*838A>C) c.4582A>C (p.Met1528Leu) n.9762A>C n.3227A>C c.5422A>C (p.Met1808Leu) c.5506A>C (p.Met1836Leu) c.5554A>C (p.Met1852Leu) c.4528A>C (p.Met1510Leu) c.4109A>C c.3670A>C (p.Met1224Leu) c.*1487A>C (n.*1487A>C) c.4823A>C c.5596A>C (p.Met1866Leu) c.5593A>C (p.Met1865Leu) c.5548A>C (p.Met1850Leu) c.4672A>C (p.Met1558Leu) c.4441A>C (p.Met1481Leu) | |
10 | g.94304577A>G | CA377643057 | PLCE1 | c.4630A>G (p.Met1544Val) c.*2097A>G (n.*2097A>G) n.2289A>G n.973A>G c.*838A>G (n.*838A>G) c.4582A>G (p.Met1528Val) n.9762A>G n.3227A>G c.5422A>G (p.Met1808Val) c.5506A>G (p.Met1836Val) c.5554A>G (p.Met1852Val) c.4528A>G (p.Met1510Val) c.4109A>G c.3670A>G (p.Met1224Val) c.*1487A>G (n.*1487A>G) c.4823A>G c.5596A>G (p.Met1866Val) c.5593A>G (p.Met1865Val) c.5548A>G (p.Met1850Val) c.4672A>G (p.Met1558Val) c.4441A>G (p.Met1481Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94304577A>T | CA377643059 | PLCE1 | c.4630A>T (p.Met1544Leu) c.*2097A>T (n.*2097A>T) n.2289A>T n.973A>T c.*838A>T (n.*838A>T) c.4582A>T (p.Met1528Leu) n.9762A>T n.3227A>T c.5422A>T (p.Met1808Leu) c.5506A>T (p.Met1836Leu) c.5554A>T (p.Met1852Leu) c.4528A>T (p.Met1510Leu) c.4109A>T c.3670A>T (p.Met1224Leu) c.*1487A>T (n.*1487A>T) c.4823A>T c.5596A>T (p.Met1866Leu) c.5593A>T (p.Met1865Leu) c.5548A>T (p.Met1850Leu) c.4672A>T (p.Met1558Leu) c.4441A>T (p.Met1481Leu) | |
10 | g.94304578T>A | CA377643061 | PLCE1 | c.4631T>A (p.Met1544Lys) c.*2098T>A (n.*2098T>A) n.2290T>A n.974T>A c.*839T>A (n.*839T>A) c.4583T>A (p.Met1528Lys) n.9763T>A n.3228T>A c.5423T>A (p.Met1808Lys) c.5507T>A (p.Met1836Lys) c.5555T>A (p.Met1852Lys) c.4529T>A (p.Met1510Lys) c.4110T>A c.3671T>A (p.Met1224Lys) c.*1488T>A (n.*1488T>A) c.4824T>A c.5597T>A (p.Met1866Lys) c.5594T>A (p.Met1865Lys) c.5549T>A (p.Met1850Lys) c.4673T>A (p.Met1558Lys) c.4442T>A (p.Met1481Lys) | |
10 | g.94304578T>C | CA377643063 | PLCE1 | c.4631T>C (p.Met1544Thr) c.*2098T>C (n.*2098T>C) n.2290T>C n.974T>C c.*839T>C (n.*839T>C) c.4583T>C (p.Met1528Thr) n.9763T>C n.3228T>C c.5423T>C (p.Met1808Thr) c.5507T>C (p.Met1836Thr) c.5555T>C (p.Met1852Thr) c.4529T>C (p.Met1510Thr) c.4110T>C c.3671T>C (p.Met1224Thr) c.*1488T>C (n.*1488T>C) c.4824T>C c.5597T>C (p.Met1866Thr) c.5594T>C (p.Met1865Thr) c.5549T>C (p.Met1850Thr) c.4673T>C (p.Met1558Thr) c.4442T>C (p.Met1481Thr) | gnomAD v4 |
10 | g.94304578T>G | CA377643064 | PLCE1 | c.4631T>G (p.Met1544Arg) c.*2098T>G (n.*2098T>G) n.2290T>G n.974T>G c.*839T>G (n.*839T>G) c.4583T>G (p.Met1528Arg) n.9763T>G n.3228T>G c.5423T>G (p.Met1808Arg) c.5507T>G (p.Met1836Arg) c.5555T>G (p.Met1852Arg) c.4529T>G (p.Met1510Arg) c.4110T>G c.3671T>G (p.Met1224Arg) c.*1488T>G (n.*1488T>G) c.4824T>G c.5597T>G (p.Met1866Arg) c.5594T>G (p.Met1865Arg) c.5549T>G (p.Met1850Arg) c.4673T>G (p.Met1558Arg) c.4442T>G (p.Met1481Arg) | |
10 | g.94304579G>A | CA377643065 | PLCE1 | c.4632G>A (p.Met1544Ile) c.*2099G>A (n.*2099G>A) n.2291G>A n.975G>A c.*840G>A (n.*840G>A) c.4584G>A (p.Met1528Ile) n.9764G>A n.3229G>A c.5424G>A (p.Met1808Ile) c.5508G>A (p.Met1836Ile) c.5556G>A (p.Met1852Ile) c.4530G>A (p.Met1510Ile) c.4111G>A c.3672G>A (p.Met1224Ile) c.*1489G>A (n.*1489G>A) c.4825G>A c.5598G>A (p.Met1866Ile) c.5595G>A (p.Met1865Ile) c.5550G>A (p.Met1850Ile) c.4674G>A (p.Met1558Ile) c.4443G>A (p.Met1481Ile) | gnomAD v4 |
10 | g.94304579G>C | CA377643066 | PLCE1 | c.4632G>C (p.Met1544Ile) c.*2099G>C (n.*2099G>C) n.2291G>C n.975G>C c.*840G>C (n.*840G>C) c.4584G>C (p.Met1528Ile) n.9764G>C n.3229G>C c.5424G>C (p.Met1808Ile) c.5508G>C (p.Met1836Ile) c.5556G>C (p.Met1852Ile) c.4530G>C (p.Met1510Ile) c.4111G>C c.3672G>C (p.Met1224Ile) c.*1489G>C (n.*1489G>C) c.4825G>C c.5598G>C (p.Met1866Ile) c.5595G>C (p.Met1865Ile) c.5550G>C (p.Met1850Ile) c.4674G>C (p.Met1558Ile) c.4443G>C (p.Met1481Ile) | |
10 | g.94304579G>T | CA377643068 | PLCE1 | c.4632G>T (p.Met1544Ile) c.*2099G>T (n.*2099G>T) n.2291G>T n.975G>T c.*840G>T (n.*840G>T) c.4584G>T (p.Met1528Ile) n.9764G>T n.3229G>T c.5424G>T (p.Met1808Ile) c.5508G>T (p.Met1836Ile) c.5556G>T (p.Met1852Ile) c.4530G>T (p.Met1510Ile) c.4111G>T c.3672G>T (p.Met1224Ile) c.*1489G>T (n.*1489G>T) c.4825G>T c.5598G>T (p.Met1866Ile) c.5595G>T (p.Met1865Ile) c.5550G>T (p.Met1850Ile) c.4674G>T (p.Met1558Ile) c.4443G>T (p.Met1481Ile) | gnomAD v4 |
10 | g.94304580T>A | CA377643070 | PLCE1 | c.4633T>A (p.Tyr1545Asn) c.*2100T>A (n.*2100T>A) n.2292T>A n.976T>A c.*841T>A (n.*841T>A) c.4585T>A (p.Tyr1529Asn) n.9765T>A n.3230T>A c.5425T>A (p.Tyr1809Asn) c.5509T>A (p.Tyr1837Asn) c.5557T>A (p.Tyr1853Asn) c.4531T>A (p.Tyr1511Asn) c.4112T>A c.3673T>A (p.Tyr1225Asn) c.*1490T>A (n.*1490T>A) c.4826T>A c.5599T>A (p.Tyr1867Asn) c.5596T>A (p.Tyr1866Asn) c.5551T>A (p.Tyr1851Asn) c.4675T>A (p.Tyr1559Asn) c.4444T>A (p.Tyr1482Asn) | |
10 | g.94304580T>C | CA377643071 | PLCE1 | c.4633T>C (p.Tyr1545His) c.*2100T>C (n.*2100T>C) n.2292T>C n.976T>C c.*841T>C (n.*841T>C) c.4585T>C (p.Tyr1529His) n.9765T>C n.3230T>C c.5425T>C (p.Tyr1809His) c.5509T>C (p.Tyr1837His) c.5557T>C (p.Tyr1853His) c.4531T>C (p.Tyr1511His) c.4112T>C c.3673T>C (p.Tyr1225His) c.*1490T>C (n.*1490T>C) c.4826T>C c.5599T>C (p.Tyr1867His) c.5596T>C (p.Tyr1866His) c.5551T>C (p.Tyr1851His) c.4675T>C (p.Tyr1559His) c.4444T>C (p.Tyr1482His) | gnomAD v4 |
10 | g.94304580T>G | CA377643073 | PLCE1 | c.4633T>G (p.Tyr1545Asp) c.*2100T>G (n.*2100T>G) n.2292T>G n.976T>G c.*841T>G (n.*841T>G) c.4585T>G (p.Tyr1529Asp) n.9765T>G n.3230T>G c.5425T>G (p.Tyr1809Asp) c.5509T>G (p.Tyr1837Asp) c.5557T>G (p.Tyr1853Asp) c.4531T>G (p.Tyr1511Asp) c.4112T>G c.3673T>G (p.Tyr1225Asp) c.*1490T>G (n.*1490T>G) c.4826T>G c.5599T>G (p.Tyr1867Asp) c.5596T>G (p.Tyr1866Asp) c.5551T>G (p.Tyr1851Asp) c.4675T>G (p.Tyr1559Asp) c.4444T>G (p.Tyr1482Asp) | |
10 | g.94304581A= | CA1929000785 | PLCE1 | c.4634A= (p.Tyr1545=) c.*2101A= (n.*2101A=) n.2293A= n.977A= c.*842A= (n.*842A=) c.4586A= (p.Tyr1529=) n.9766A= n.3231A= c.5426A= (p.Tyr1809=) c.5510A= (p.Tyr1837=) c.5558A= (p.Tyr1853=) c.4532A= (p.Tyr1511=) c.4113A= c.3674A= (p.Tyr1225=) c.*1491A= (n.*1491A=) c.4827A= c.5600A= (p.Tyr1867=) c.5597A= (p.Tyr1866=) c.5552A= (p.Tyr1851=) c.4676A= (p.Tyr1559=) c.4445A= (p.Tyr1482=) | |
10 | g.94304581A>C | CA377643076 | PLCE1 | c.4634A>C (p.Tyr1545Ser) c.*2101A>C (n.*2101A>C) n.2293A>C n.977A>C c.*842A>C (n.*842A>C) c.4586A>C (p.Tyr1529Ser) n.9766A>C n.3231A>C c.5426A>C (p.Tyr1809Ser) c.5510A>C (p.Tyr1837Ser) c.5558A>C (p.Tyr1853Ser) c.4532A>C (p.Tyr1511Ser) c.4113A>C c.3674A>C (p.Tyr1225Ser) c.*1491A>C (n.*1491A>C) c.4827A>C c.5600A>C (p.Tyr1867Ser) c.5597A>C (p.Tyr1866Ser) c.5552A>C (p.Tyr1851Ser) c.4676A>C (p.Tyr1559Ser) c.4445A>C (p.Tyr1482Ser) | |
10 | g.94304581A>G | CA377643079 | PLCE1 | c.4634A>G (p.Tyr1545Cys) c.*2101A>G (n.*2101A>G) n.2293A>G n.977A>G c.*842A>G (n.*842A>G) c.4586A>G (p.Tyr1529Cys) n.9766A>G n.3231A>G c.5426A>G (p.Tyr1809Cys) c.5510A>G (p.Tyr1837Cys) c.5558A>G (p.Tyr1853Cys) c.4532A>G (p.Tyr1511Cys) c.4113A>G c.3674A>G (p.Tyr1225Cys) c.*1491A>G (n.*1491A>G) c.4827A>G c.5600A>G (p.Tyr1867Cys) c.5597A>G (p.Tyr1866Cys) c.5552A>G (p.Tyr1851Cys) c.4676A>G (p.Tyr1559Cys) c.4445A>G (p.Tyr1482Cys) | dbSNP |
10 | g.94304581A>T | CA377643077 | PLCE1 | c.4634A>T (p.Tyr1545Phe) c.*2101A>T (n.*2101A>T) n.2293A>T n.977A>T c.*842A>T (n.*842A>T) c.4586A>T (p.Tyr1529Phe) n.9766A>T n.3231A>T c.5426A>T (p.Tyr1809Phe) c.5510A>T (p.Tyr1837Phe) c.5558A>T (p.Tyr1853Phe) c.4532A>T (p.Tyr1511Phe) c.4113A>T c.3674A>T (p.Tyr1225Phe) c.*1491A>T (n.*1491A>T) c.4827A>T c.5600A>T (p.Tyr1867Phe) c.5597A>T (p.Tyr1866Phe) c.5552A>T (p.Tyr1851Phe) c.4676A>T (p.Tyr1559Phe) c.4445A>T (p.Tyr1482Phe) | |
10 | g.94304582T>A | CA377643081 | PLCE1 | c.4635T>A (p.Tyr1545Ter) c.*2102T>A (n.*2102T>A) n.2294T>A n.978T>A c.*843T>A (n.*843T>A) c.4587T>A (p.Tyr1529Ter) n.9767T>A n.3232T>A c.5427T>A (p.Tyr1809Ter) c.5511T>A (p.Tyr1837Ter) c.5559T>A (p.Tyr1853Ter) c.4533T>A (p.Tyr1511Ter) c.4114T>A c.3675T>A (p.Tyr1225Ter) c.*1492T>A (n.*1492T>A) c.4828T>A c.5601T>A (p.Tyr1867Ter) c.5598T>A (p.Tyr1866Ter) c.5553T>A (p.Tyr1851Ter) c.4677T>A (p.Tyr1559Ter) c.4446T>A (p.Tyr1482Ter) | |
10 | g.94304582T>C | CA470808610 | PLCE1 | c.4635T>C (p.Tyr1545=) c.*2102T>C (n.*2102T>C) n.2294T>C n.978T>C c.*843T>C (n.*843T>C) c.4587T>C (p.Tyr1529=) n.9767T>C n.3232T>C c.5427T>C (p.Tyr1809=) c.5511T>C (p.Tyr1837=) c.5559T>C (p.Tyr1853=) c.4533T>C (p.Tyr1511=) c.4114T>C c.3675T>C (p.Tyr1225=) c.*1492T>C (n.*1492T>C) c.4828T>C c.5601T>C (p.Tyr1867=) c.5598T>C (p.Tyr1866=) c.5553T>C (p.Tyr1851=) c.4677T>C (p.Tyr1559=) c.4446T>C (p.Tyr1482=) | |
10 | g.94304582T>G | CA377643083 | PLCE1 | c.4635T>G (p.Tyr1545Ter) c.*2102T>G (n.*2102T>G) n.2294T>G n.978T>G c.*843T>G (n.*843T>G) c.4587T>G (p.Tyr1529Ter) n.9767T>G n.3232T>G c.5427T>G (p.Tyr1809Ter) c.5511T>G (p.Tyr1837Ter) c.5559T>G (p.Tyr1853Ter) c.4533T>G (p.Tyr1511Ter) c.4114T>G c.3675T>G (p.Tyr1225Ter) c.*1492T>G (n.*1492T>G) c.4828T>G c.5601T>G (p.Tyr1867Ter) c.5598T>G (p.Tyr1866Ter) c.5553T>G (p.Tyr1851Ter) c.4677T>G (p.Tyr1559Ter) c.4446T>G (p.Tyr1482Ter) | ClinVar dbSNP |
10 | g.94304582T= | CA1929000786 | PLCE1 | c.4635T= (p.Tyr1545=) c.*2102T= (n.*2102T=) n.2294T= n.978T= c.*843T= (n.*843T=) c.4587T= (p.Tyr1529=) n.9767T= n.3232T= c.5427T= (p.Tyr1809=) c.5511T= (p.Tyr1837=) c.5559T= (p.Tyr1853=) c.4533T= (p.Tyr1511=) c.4114T= c.3675T= (p.Tyr1225=) c.*1492T= (n.*1492T=) c.4828T= c.5601T= (p.Tyr1867=) c.5598T= (p.Tyr1866=) c.5553T= (p.Tyr1851=) c.4677T= (p.Tyr1559=) c.4446T= (p.Tyr1482=) | |
10 | g.94304583C>A | CA377643085 | PLCE1 | c.4636C>A (p.Gln1546Lys) c.*2103C>A (n.*2103C>A) n.2295C>A n.979C>A c.*844C>A (n.*844C>A) c.4588C>A (p.Gln1530Lys) n.9768C>A n.3233C>A c.5428C>A (p.Gln1810Lys) c.5512C>A (p.Gln1838Lys) c.5560C>A (p.Gln1854Lys) c.4534C>A (p.Gln1512Lys) c.4115C>A c.3676C>A (p.Gln1226Lys) c.*1493C>A (n.*1493C>A) c.4829C>A c.5602C>A (p.Gln1868Lys) c.5599C>A (p.Gln1867Lys) c.5554C>A (p.Gln1852Lys) c.4678C>A (p.Gln1560Lys) c.4447C>A (p.Gln1483Lys) | |
10 | g.94304583C= | CA1929000787 | PLCE1 | c.4636C= (p.Gln1546=) c.*2103C= (n.*2103C=) n.2295C= n.979C= c.*844C= (n.*844C=) c.4588C= (p.Gln1530=) n.9768C= n.3233C= c.5428C= (p.Gln1810=) c.5512C= (p.Gln1838=) c.5560C= (p.Gln1854=) c.4534C= (p.Gln1512=) c.4115C= c.3676C= (p.Gln1226=) c.*1493C= (n.*1493C=) c.4829C= c.5602C= (p.Gln1868=) c.5599C= (p.Gln1867=) c.5554C= (p.Gln1852=) c.4678C= (p.Gln1560=) c.4447C= (p.Gln1483=) | |
10 | g.94304583C>G | CA377643088 | PLCE1 | c.4636C>G (p.Gln1546Glu) c.*2103C>G (n.*2103C>G) n.2295C>G n.979C>G c.*844C>G (n.*844C>G) c.4588C>G (p.Gln1530Glu) n.9768C>G n.3233C>G c.5428C>G (p.Gln1810Glu) c.5512C>G (p.Gln1838Glu) c.5560C>G (p.Gln1854Glu) c.4534C>G (p.Gln1512Glu) c.4115C>G c.3676C>G (p.Gln1226Glu) c.*1493C>G (n.*1493C>G) c.4829C>G c.5602C>G (p.Gln1868Glu) c.5599C>G (p.Gln1867Glu) c.5554C>G (p.Gln1852Glu) c.4678C>G (p.Gln1560Glu) c.4447C>G (p.Gln1483Glu) | |
10 | g.94304583C>T | CA115496 | PLCE1 | c.4636C>T (p.Gln1546Ter) c.*2103C>T (n.*2103C>T) n.2295C>T n.979C>T c.*844C>T (n.*844C>T) c.4588C>T (p.Gln1530Ter) n.9768C>T n.3233C>T c.5428C>T (p.Gln1810Ter) c.5512C>T (p.Gln1838Ter) c.5560C>T (p.Gln1854Ter) c.4534C>T (p.Gln1512Ter) c.4115C>T c.3676C>T (p.Gln1226Ter) c.*1493C>T (n.*1493C>T) c.4829C>T c.5602C>T (p.Gln1868Ter) c.5599C>T (p.Gln1867Ter) c.5554C>T (p.Gln1852Ter) c.4678C>T (p.Gln1560Ter) c.4447C>T (p.Gln1483Ter) | ClinVar dbSNP |
10 | g.94304584A>C | CA377643089 | PLCE1 | c.4637A>C (p.Gln1546Pro) c.*2104A>C (n.*2104A>C) n.2296A>C n.980A>C c.*845A>C (n.*845A>C) c.4589A>C (p.Gln1530Pro) n.9769A>C n.3234A>C c.5429A>C (p.Gln1810Pro) c.5513A>C (p.Gln1838Pro) c.5561A>C (p.Gln1854Pro) c.4535A>C (p.Gln1512Pro) c.4116A>C c.3677A>C (p.Gln1226Pro) c.*1494A>C (n.*1494A>C) c.4830A>C c.5603A>C (p.Gln1868Pro) c.5600A>C (p.Gln1867Pro) c.5555A>C (p.Gln1852Pro) c.4679A>C (p.Gln1560Pro) c.4448A>C (p.Gln1483Pro) | gnomAD v4 |
10 | g.94304584A>G | CA377643092 | PLCE1 | c.4637A>G (p.Gln1546Arg) c.*2104A>G (n.*2104A>G) n.2296A>G n.980A>G c.*845A>G (n.*845A>G) c.4589A>G (p.Gln1530Arg) n.9769A>G n.3234A>G c.5429A>G (p.Gln1810Arg) c.5513A>G (p.Gln1838Arg) c.5561A>G (p.Gln1854Arg) c.4535A>G (p.Gln1512Arg) c.4116A>G c.3677A>G (p.Gln1226Arg) c.*1494A>G (n.*1494A>G) c.4830A>G c.5603A>G (p.Gln1868Arg) c.5600A>G (p.Gln1867Arg) c.5555A>G (p.Gln1852Arg) c.4679A>G (p.Gln1560Arg) c.4448A>G (p.Gln1483Arg) | gnomAD v4 |
10 | g.94304584A>T | CA377643090 | PLCE1 | c.4637A>T (p.Gln1546Leu) c.*2104A>T (n.*2104A>T) n.2296A>T n.980A>T c.*845A>T (n.*845A>T) c.4589A>T (p.Gln1530Leu) n.9769A>T n.3234A>T c.5429A>T (p.Gln1810Leu) c.5513A>T (p.Gln1838Leu) c.5561A>T (p.Gln1854Leu) c.4535A>T (p.Gln1512Leu) c.4116A>T c.3677A>T (p.Gln1226Leu) c.*1494A>T (n.*1494A>T) c.4830A>T c.5603A>T (p.Gln1868Leu) c.5600A>T (p.Gln1867Leu) c.5555A>T (p.Gln1852Leu) c.4679A>T (p.Gln1560Leu) c.4448A>T (p.Gln1483Leu) | |
10 | g.94304585G>A | CA470808611 | PLCE1 | c.4638G>A (p.Gln1546=) c.*2105G>A (n.*2105G>A) n.2297G>A n.981G>A c.*846G>A (n.*846G>A) c.4590G>A (p.Gln1530=) n.9770G>A n.3235G>A c.5430G>A (p.Gln1810=) c.5514G>A (p.Gln1838=) c.5562G>A (p.Gln1854=) c.4536G>A (p.Gln1512=) c.4117G>A c.3678G>A (p.Gln1226=) c.*1495G>A (n.*1495G>A) c.4831G>A c.5604G>A (p.Gln1868=) c.5601G>A (p.Gln1867=) c.5556G>A (p.Gln1852=) c.4680G>A (p.Gln1560=) c.4449G>A (p.Gln1483=) | dbSNP |
10 | g.94304585G>C | CA377643094 | PLCE1 | c.4638G>C (p.Gln1546His) c.*2105G>C (n.*2105G>C) n.2297G>C n.981G>C c.*846G>C (n.*846G>C) c.4590G>C (p.Gln1530His) n.9770G>C n.3235G>C c.5430G>C (p.Gln1810His) c.5514G>C (p.Gln1838His) c.5562G>C (p.Gln1854His) c.4536G>C (p.Gln1512His) c.4117G>C c.3678G>C (p.Gln1226His) c.*1495G>C (n.*1495G>C) c.4831G>C c.5604G>C (p.Gln1868His) c.5601G>C (p.Gln1867His) c.5556G>C (p.Gln1852His) c.4680G>C (p.Gln1560His) c.4449G>C (p.Gln1483His) | |
10 | g.94304585G= | CA1929000788 | PLCE1 | c.4638G= (p.Gln1546=) c.*2105G= (n.*2105G=) n.2297G= n.981G= c.*846G= (n.*846G=) c.4590G= (p.Gln1530=) n.9770G= n.3235G= c.5430G= (p.Gln1810=) c.5514G= (p.Gln1838=) c.5562G= (p.Gln1854=) c.4536G= (p.Gln1512=) c.4117G= c.3678G= (p.Gln1226=) c.*1495G= (n.*1495G=) c.4831G= c.5604G= (p.Gln1868=) c.5601G= (p.Gln1867=) c.5556G= (p.Gln1852=) c.4680G= (p.Gln1560=) c.4449G= (p.Gln1483=) | |
10 | g.94304585G>T | CA377643096 | PLCE1 | c.4638G>T (p.Gln1546His) c.*2105G>T (n.*2105G>T) n.2297G>T n.981G>T c.*846G>T (n.*846G>T) c.4590G>T (p.Gln1530His) n.9770G>T n.3235G>T c.5430G>T (p.Gln1810His) c.5514G>T (p.Gln1838His) c.5562G>T (p.Gln1854His) c.4536G>T (p.Gln1512His) c.4117G>T c.3678G>T (p.Gln1226His) c.*1495G>T (n.*1495G>T) c.4831G>T c.5604G>T (p.Gln1868His) c.5601G>T (p.Gln1867His) c.5556G>T (p.Gln1852His) c.4680G>T (p.Gln1560His) c.4449G>T (p.Gln1483His) |