Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.94304485T>ACA377642698PLCE1c.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)
10g.94304485T>CCA377642699PLCE1c.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
10g.94304485T>GCA377642700PLCE1c.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)
10g.94304485T=CA1929000759PLCE1c.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=)
10g.94304486C>ACA470808447PLCE1c.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=)
10g.94304486C=CA1929000760PLCE1c.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=)
10g.94304486C>GCA470808448PLCE1c.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=)
10g.94304486C>TCA5613373PLCE1c.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
10g.94304487C>ACA377642701PLCE1c.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)
10g.94304487C>GCA377642702PLCE1c.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)
10g.94304487C>TCA377642703PLCE1c.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)
10g.94304488C>ACA377642704PLCE1c.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)
10g.94304488C>GCA377642705PLCE1c.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)
10g.94304488C>TCA377642706PLCE1c.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)
10g.94304489T>ACA470808450PLCE1c.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=)
10g.94304489T>CCA470808453PLCE1c.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=)
10g.94304489T>GCA470808452PLCE1c.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=)
10g.94304490T>ACA377642707PLCE1c.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)
10g.94304490T>CCA470808455PLCE1c.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=)
10g.94304490T>GCA377642708PLCE1c.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)
10g.94304491T>ACA377642709PLCE1c.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)
10g.94304491T>CCA377642710PLCE1c.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)
10g.94304491T>GCA377642711PLCE1c.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)
10g.94304492A>CCA377642712PLCE1c.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)
10g.94304492A>GCA470808457PLCE1c.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=)
10g.94304492A>TCA377642713PLCE1c.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)
10g.94304493C>ACA377642714PLCE1c.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)
10g.94304493C=CA1929000761PLCE1c.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=)
10g.94304493C>GCA377642715PLCE1c.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)
10g.94304493C>TCA377642716PLCE1c.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
10g.94304494A>CCA377642717PLCE1c.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)
10g.94304494A>GCA377642718PLCE1c.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)
10g.94304494A>TCA377642719PLCE1c.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)
10g.94304495T>ACA377642720PLCE1c.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)
10g.94304495T>CCA470808461PLCE1c.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=)
10g.94304495T>GCA377642721PLCE1c.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)
10g.94304497dupCA2610239868PLCE1c.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
10g.94304496T>ACA377642723PLCE1c.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)
10g.94304496T>CCA470808463PLCE1c.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=)
10g.94304496T>GCA377642722PLCE1c.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)
10g.94304497T>ACA377642724PLCE1c.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)
10g.94304497T>CCA377642725PLCE1c.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)
10g.94304497T>GCA377642726PLCE1c.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)
10g.94304498A>CCA377642727PLCE1c.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)
10g.94304498A>GCA470808464PLCE1c.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=)
10g.94304498A>TCA377642728PLCE1c.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)
10g.94304499A>CCA377642729PLCE1c.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)
10g.94304499A>GCA377642730PLCE1c.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)
10g.94304499A>TCA377642731PLCE1c.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)
10g.94304500A>CCA377642732PLCE1c.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)
10g.94304500A>GCA377642733PLCE1c.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
10g.94304500A>TCA377642734PLCE1c.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)
10g.94304501T>ACA377642735PLCE1c.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)
10g.94304501T>CCA470808468PLCE1c.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=)
10g.94304501T>GCA377642736PLCE1c.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)
10g.94304502G>ACA377642739PLCE1c.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)
10g.94304502G>CCA377642738PLCE1c.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
10g.94304502G=CA1929000762PLCE1c.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=)
10g.94304502G>TCA377642737PLCE1c.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)
10g.94304503C>ACA377642741PLCE1c.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)
10g.94304503C=CA1929000763PLCE1c.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=)
10g.94304503C>GCA377642740PLCE1c.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)
10g.94304503C>TCA377642742PLCE1c.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
10g.94304504T>ACA470808471PLCE1c.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=)
10g.94304504T>CCA5613374PLCE1c.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
10g.94304504T>GCA470808476PLCE1c.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
10g.94304504T=CA1929000764PLCE1c.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=)
10g.94304505G>ACA377642743PLCE1c.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
10g.94304505G>CCA377642744PLCE1c.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)
10g.94304505G>TCA377642745PLCE1c.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)
10g.94304506C>ACA377642746PLCE1c.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)
10g.94304506C>GCA377642747PLCE1c.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)
10g.94304506C>TCA377642748PLCE1c.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)
10g.94304507A>CCA470808480PLCE1c.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=)
10g.94304507A>GCA470808481PLCE1c.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=)
10g.94304507A>TCA470808482PLCE1c.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=)
10g.94304508A>CCA377642749PLCE1c.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)
10g.94304508A>GCA377642750PLCE1c.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
10g.94304508A>TCA377642751PLCE1c.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)
10g.94304509T>ACA377642752PLCE1c.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)
10g.94304509T>CCA377642753PLCE1c.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)
10g.94304509T>GCA377642754PLCE1c.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)
10g.94304510G>ACA377642760PLCE1c.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)
10g.94304510G>CCA377642756PLCE1c.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)
10g.94304510G>TCA377642758PLCE1c.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)
10g.94304511T>ACA377642762PLCE1c.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)
10g.94304511T>CCA377642764PLCE1c.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)
10g.94304511T>GCA377642766PLCE1c.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)
10g.94304512T>ACA377642768PLCE1c.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)
10g.94304512T>CCA377642770PLCE1c.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
10g.94304512T>GCA377642771PLCE1c.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)
10g.94304513T>ACA377642773PLCE1c.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)
10g.94304513T>CCA470808484PLCE1c.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=)
10g.94304513T>GCA377642774PLCE1c.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)
10g.94304514G>ACA377642775PLCE1c.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
10g.94304514G>CCA377642776PLCE1c.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)
10g.94304514G>TCA377642778PLCE1c.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)
10g.94304515A=CA1929000765PLCE1c.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=)
10g.94304515A>CCA377642783PLCE1c.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)
10g.94304515A>GCA5613375PLCE1c.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
10g.94304515A>TCA377642781PLCE1c.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)
10g.94304516G>ACA470808485PLCE1c.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
10g.94304516G>CCA377642786PLCE1c.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)
10g.94304516G>TCA377642787PLCE1c.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
10g.94304517G>ACA377642790PLCE1c.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
10g.94304517G>CCA377642791PLCE1c.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)
10g.94304517G>TCA377642793PLCE1c.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)
10g.94304518C>ACA377642795PLCE1c.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
10g.94304518C=CA1929000766PLCE1c.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=)
10g.94304518C>GCA377642797PLCE1c.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
10g.94304518C>TCA377642798PLCE1c.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)
10g.94304519A>CCA470808488PLCE1c.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=)
10g.94304519A>GCA470808489PLCE1c.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=)
10g.94304519A>TCA470808490PLCE1c.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=)
10g.94304520A>CCA377642801PLCE1c.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)
10g.94304520A>GCA377642803PLCE1c.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)
10g.94304520A>TCA377642804PLCE1c.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)
10g.94304521A>CCA377642807PLCE1c.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)
10g.94304521A>GCA377642808PLCE1c.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)
10g.94304521A>TCA377642810PLCE1c.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)
10g.94304522T>ACA377642812PLCE1c.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)
10g.94304522T>CCA470808491PLCE1c.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=)
10g.94304522T>GCA377642814PLCE1c.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)
10g.94304523G>ACA377642816PLCE1c.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)
10g.94304523G>CCA377642818PLCE1c.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)
10g.94304523G>TCA377642820PLCE1c.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)
10g.94304523_94304529delinsGGTGGTTCA1929000767PLCE1c.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=)
10g.94304524G>ACA5613376PLCE1c.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
10g.94304524G>CCA377642823PLCE1c.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
10g.94304524G=CA1929000768PLCE1c.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=)
10g.94304524G>TCA377642825PLCE1c.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)
10g.94304530_94304535delCA670130540PLCE1c.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
10g.94304525T>ACA470808494PLCE1c.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=)
10g.94304525T>CCA5613377PLCE1c.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
10g.94304525T>GCA470808495PLCE1c.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=)
10g.94304525T=CA1929000769PLCE1c.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=)
10g.94304526G>ACA377642828PLCE1c.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
10g.94304526G>CCA377642829PLCE1c.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)
10g.94304526G=CA1929000770PLCE1c.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=)
10g.94304526G>TCA377642831PLCE1c.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)
10g.94304527G>ACA377642833PLCE1c.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)
10g.94304527G>CCA377642835PLCE1c.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
10g.94304527G>TCA377642837PLCE1c.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)
10g.94304528T>ACA470808496PLCE1c.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
10g.94304528T>CCA470808497PLCE1c.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=)
10g.94304528T>GCA470808498PLCE1c.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=)
10g.94304528T=CA1929000771PLCE1c.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=)
10g.94304529T>ACA377642840PLCE1c.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)
10g.94304529T>CCA377642842PLCE1c.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)
10g.94304529T>GCA377642839PLCE1c.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)
10g.94304530G>ACA377642844PLCE1c.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)
10g.94304530G>CCA377642848PLCE1c.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
10g.94304530G>TCA377642846PLCE1c.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)
10g.94304531T>ACA377642850PLCE1c.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)
10g.94304531T>CCA470808502PLCE1c.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
10g.94304531T>GCA377642851PLCE1c.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)
10g.94304532G>ACA377642854PLCE1c.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)
10g.94304532G>CCA377642855PLCE1c.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
10g.94304532G>TCA377642857PLCE1c.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)
10g.94304533G>ACA377642860PLCE1c.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
10g.94304533G>CCA377642861PLCE1c.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)
10g.94304533G=CA1929000772PLCE1c.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=)
10g.94304533G>TCA377642863PLCE1c.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)
10g.94304534T>ACA470808508PLCE1c.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=)
10g.94304534T>CCA470808507PLCE1c.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=)
10g.94304534T>GCA470808506PLCE1c.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=)
10g.94304535T>ACA377642866PLCE1c.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)
10g.94304535T>CCA377642868PLCE1c.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)
10g.94304535T>GCA377642870PLCE1c.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)
10g.94304536A>CCA377642871PLCE1c.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)
10g.94304536A>GCA377642872PLCE1c.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)
10g.94304536A>TCA377642875PLCE1c.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)
10g.94304537T>ACA377642879PLCE1c.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)
10g.94304537T>CCA470808575PLCE1c.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=)
10g.94304537T>GCA377642877PLCE1c.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)
10g.94304538G>ACA377642881PLCE1c.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
10g.94304538G>CCA377642883PLCE1c.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)
10g.94304538G>TCA377642885PLCE1c.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)
10g.94304539T>ACA377642887PLCE1c.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)
10g.94304539T>CCA377642889PLCE1c.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
10g.94304539T>GCA377642891PLCE1c.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)
10g.94304540A=CA1929000773PLCE1c.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=)
10g.94304540A>CCA470808576PLCE1c.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=)
10g.94304540A>GCA470808577PLCE1c.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=)
10g.94304540A>TCA5613378PLCE1c.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
10g.94304541T>ACA377642895PLCE1c.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)
10g.94304541T>CCA470808578PLCE1c.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
10g.94304541T>GCA377642896PLCE1c.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
10g.94304542T>ACA377642899PLCE1c.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)
10g.94304542T>CCA377642901PLCE1c.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)
10g.94304542T>GCA377642903PLCE1c.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)
10g.94304543G>ACA470808581PLCE1c.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=)
10g.94304543G>CCA377642905PLCE1c.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
10g.94304543G=CA1929000774PLCE1c.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=)
10g.94304543G>TCA211603915PLCE1c.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
10g.94304544A>CCA377642907PLCE1c.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)
10g.94304544A>GCA377642909PLCE1c.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
10g.94304544A>TCA377642911PLCE1c.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)
10g.94304545A>CCA377642914PLCE1c.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)
10g.94304545A>GCA377642915PLCE1c.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)
10g.94304545A>TCA377642917PLCE1c.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)
10g.94304546A>CCA377642921PLCE1c.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)
10g.94304546A>GCA470808582PLCE1c.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=)
10g.94304546A>TCA377642920PLCE1c.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)
10g.94304547C>ACA377642924PLCE1c.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)
10g.94304547C=CA1929000775PLCE1c.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=)
10g.94304547C>GCA5613379PLCE1c.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
10g.94304547C>TCA377642927PLCE1c.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)
10g.94304548C>ACA377642930PLCE1c.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)
10g.94304548C>GCA377642931PLCE1c.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)
10g.94304548C>TCA377642933PLCE1c.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)
10g.94304549T>ACA470808584PLCE1c.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=)
10g.94304549T>CCA470808585PLCE1c.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=)
10g.94304549T>GCA470808586PLCE1c.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=)
10g.94304550C>ACA377642935PLCE1c.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)
10g.94304550C>GCA377642939PLCE1c.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)
10g.94304550C>TCA377642937PLCE1c.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)
10g.94304551C>ACA377642941PLCE1c.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)
10g.94304551C>GCA377642942PLCE1c.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)
10g.94304551C>TCA377642944PLCE1c.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)
10g.94304552A=CA1929000776PLCE1c.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=)
10g.94304552A>CCA211603930PLCE1c.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
10g.94304552A>GCA470808589PLCE1c.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=)
10g.94304552A>TCA470808591PLCE1c.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=)
10g.94304553G>ACA377642946PLCE1c.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
10g.94304553G>CCA377642948PLCE1c.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)
10g.94304553G>TCA377642950PLCE1c.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)
10g.94304554T>ACA377642952PLCE1c.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)
10g.94304554T>CCA377642954PLCE1c.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)
10g.94304554T>GCA377642956PLCE1c.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)
10g.94304555T>ACA470808592PLCE1c.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=)
10g.94304555T>CCA470808593PLCE1c.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=)
10g.94304555T>GCA470808594PLCE1c.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=)
10g.94304556C>ACA377642958PLCE1c.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
10g.94304556C=CA1929000777PLCE1c.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=)
10g.94304556C>GCA377642960PLCE1c.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)
10g.94304556C>TCA470808595PLCE1c.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=)
10g.94304557T>ACA377642964PLCE1c.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)
10g.94304557T>CCA377642963PLCE1c.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)
10g.94304557T>GCA377642962PLCE1c.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)
10g.94304557_94304558insTGTCCCACAGAACTGGACA2610239869PLCE1c.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
10g.94304558G>ACA470808598PLCE1c.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=)
10g.94304558G>CCA470808599PLCE1c.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=)
10g.94304558G>TCA470808600PLCE1c.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=)
10g.94304559T>ACA377642966PLCE1c.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)
10g.94304559T>CCA5613380PLCE1c.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
10g.94304559T>GCA377642967PLCE1c.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)
10g.94304559T=CA1929000778PLCE1c.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=)
10g.94304560G>ACA377642971PLCE1c.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
10g.94304560G>CCA377642972PLCE1c.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)
10g.94304560G>TCA377642975PLCE1c.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)
10g.94304561G>ACA377642977PLCE1c.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)
10g.94304561G>CCA377642979PLCE1c.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)
10g.94304561G>TCA377642981PLCE1c.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)
10g.94304562G>ACA377642983PLCE1c.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
10g.94304562G>CCA377642985PLCE1c.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
10g.94304562G>TCA377642987PLCE1c.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)
10g.94304563A>CCA377642989PLCE1c.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)
10g.94304563A>GCA377642991PLCE1c.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)
10g.94304563A>TCA377642993PLCE1c.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)
10g.94304564C>ACA377642996PLCE1c.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)
10g.94304564C>GCA377642995PLCE1c.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)
10g.94304564C>TCA470808602PLCE1c.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=)
10g.94304565A>CCA377642998PLCE1c.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)
10g.94304565A>GCA377643000PLCE1c.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
10g.94304565A>TCA377643002PLCE1c.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)
10g.94304566A=CA1929000779PLCE1c.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=)
10g.94304566A>CCA377643005PLCE1c.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)
10g.94304566A>GCA377643006PLCE1c.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
10g.94304566A>TCA377643008PLCE1c.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)
10g.94304567G>ACA211603940PLCE1c.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
10g.94304567G>CCA377643011PLCE1c.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)
10g.94304567G=CA1929000780PLCE1c.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=)
10g.94304567G>TCA377643012PLCE1c.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)
10g.94304568A>CCA377643014PLCE1c.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)
10g.94304568A>GCA377643016PLCE1c.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)
10g.94304568A>TCA377643018PLCE1c.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)
10g.94304569A>CCA377643024PLCE1c.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)
10g.94304569A>GCA377643022PLCE1c.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)
10g.94304569A>TCA377643020PLCE1c.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)
10g.94304570C>ACA377643025PLCE1c.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)
10g.94304570C=CA1929000781PLCE1c.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=)
10g.94304570C>GCA5613381PLCE1c.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
10g.94304570C>TCA470808604PLCE1c.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=)
10g.94304571T>ACA377643029PLCE1c.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)
10g.94304571T>CCA377643031PLCE1c.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)
10g.94304571T>GCA377643033PLCE1c.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)
10g.94304572G>ACA5613382PLCE1c.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
10g.94304572G>CCA377643035PLCE1c.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)
10g.94304572G=CA1929000782PLCE1c.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=)
10g.94304572G>TCA377643037PLCE1c.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)
10g.94304573C>ACA377643040PLCE1c.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)
10g.94304573C>GCA377643041PLCE1c.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)
10g.94304573C>TCA470808606PLCE1c.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=)
10g.94304574C>ACA377643043PLCE1c.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)
10g.94304574C=CA1929000783PLCE1c.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=)
10g.94304574C>GCA377643045PLCE1c.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)
10g.94304574C>TCA377643047PLCE1c.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
10g.94304574_94304575delinsTTCA645550161PLCE1c.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
10g.94304575C>ACA377643053PLCE1c.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)
10g.94304575C>GCA377643049PLCE1c.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)
10g.94304575C>TCA377643051PLCE1c.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)
10g.94304576C>ACA470808609PLCE1c.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=)
10g.94304576C>GCA470808608PLCE1c.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=)
10g.94304576C>TCA470808607PLCE1c.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
10g.94304577A=CA1929000784PLCE1c.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=)
10g.94304577A>CCA377643055PLCE1c.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)
10g.94304577A>GCA377643057PLCE1c.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
10g.94304577A>TCA377643059PLCE1c.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)
10g.94304578T>ACA377643061PLCE1c.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)
10g.94304578T>CCA377643063PLCE1c.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
10g.94304578T>GCA377643064PLCE1c.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)
10g.94304579G>ACA377643065PLCE1c.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
10g.94304579G>CCA377643066PLCE1c.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)
10g.94304579G>TCA377643068PLCE1c.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
10g.94304580T>ACA377643070PLCE1c.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)
10g.94304580T>CCA377643071PLCE1c.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
10g.94304580T>GCA377643073PLCE1c.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)
10g.94304581A=CA1929000785PLCE1c.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=)
10g.94304581A>CCA377643076PLCE1c.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)
10g.94304581A>GCA377643079PLCE1c.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
10g.94304581A>TCA377643077PLCE1c.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)
10g.94304582T>ACA377643081PLCE1c.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)
10g.94304582T>CCA470808610PLCE1c.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=)
10g.94304582T>GCA377643083PLCE1c.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
10g.94304582T=CA1929000786PLCE1c.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=)
10g.94304583C>ACA377643085PLCE1c.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)
10g.94304583C=CA1929000787PLCE1c.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=)
10g.94304583C>GCA377643088PLCE1c.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)
10g.94304583C>TCA115496PLCE1c.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
10g.94304584A>CCA377643089PLCE1c.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
10g.94304584A>GCA377643092PLCE1c.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
10g.94304584A>TCA377643090PLCE1c.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)
10g.94304585G>ACA470808611PLCE1c.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
10g.94304585G>CCA377643094PLCE1c.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)
10g.94304585G=CA1929000788PLCE1c.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=)
10g.94304585G>TCA377643096PLCE1c.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)

Number of alleles fetched