WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94304483T>A | CA377642694 | PLCE1 | c.4536T>A (p.Asp1512Glu) c.*2003T>A (n.*2003T>A) n.2195T>A n.879T>A c.*744T>A (n.*744T>A) c.4488T>A (p.Asp1496Glu) n.9668T>A n.3133T>A c.5328T>A (p.Asp1776Glu) c.5412T>A (p.Asp1804Glu) c.5460T>A (p.Asp1820Glu) c.4434T>A (p.Asp1478Glu) c.4015T>A c.3576T>A (p.Asp1192Glu) c.*1393T>A (n.*1393T>A) c.4729T>A c.5502T>A (p.Asp1834Glu) c.5499T>A (p.Asp1833Glu) c.5454T>A (p.Asp1818Glu) c.4578T>A (p.Asp1526Glu) c.4347T>A (p.Asp1449Glu) | gnomAD v4 |
| 10 | g.94304483T>C | CA470808443 | PLCE1 | c.4536T>C (p.Asp1512=) c.*2003T>C (n.*2003T>C) n.2195T>C n.879T>C c.*744T>C (n.*744T>C) c.4488T>C (p.Asp1496=) n.9668T>C n.3133T>C c.5328T>C (p.Asp1776=) c.5412T>C (p.Asp1804=) c.5460T>C (p.Asp1820=) c.4434T>C (p.Asp1478=) c.4015T>C c.3576T>C (p.Asp1192=) c.*1393T>C (n.*1393T>C) c.4729T>C c.5502T>C (p.Asp1834=) c.5499T>C (p.Asp1833=) c.5454T>C (p.Asp1818=) c.4578T>C (p.Asp1526=) c.4347T>C (p.Asp1449=) | |
| 10 | g.94304483T>G | CA377642693 | PLCE1 | c.4536T>G (p.Asp1512Glu) c.*2003T>G (n.*2003T>G) n.2195T>G n.879T>G c.*744T>G (n.*744T>G) c.4488T>G (p.Asp1496Glu) n.9668T>G n.3133T>G c.5328T>G (p.Asp1776Glu) c.5412T>G (p.Asp1804Glu) c.5460T>G (p.Asp1820Glu) c.4434T>G (p.Asp1478Glu) c.4015T>G c.3576T>G (p.Asp1192Glu) c.*1393T>G (n.*1393T>G) c.4729T>G c.5502T>G (p.Asp1834Glu) c.5499T>G (p.Asp1833Glu) c.5454T>G (p.Asp1818Glu) c.4578T>G (p.Asp1526Glu) c.4347T>G (p.Asp1449Glu) | |
| 10 | g.94304484C>A | CA377642695 | PLCE1 | c.4537C>A (p.Leu1513Ile) c.*2004C>A (n.*2004C>A) n.2196C>A n.880C>A c.*745C>A (n.*745C>A) c.4489C>A (p.Leu1497Ile) n.9669C>A n.3134C>A c.5329C>A (p.Leu1777Ile) c.5413C>A (p.Leu1805Ile) c.5461C>A (p.Leu1821Ile) c.4435C>A (p.Leu1479Ile) c.4016C>A c.3577C>A (p.Leu1193Ile) c.*1394C>A (n.*1394C>A) c.4730C>A c.5503C>A (p.Leu1835Ile) c.5500C>A (p.Leu1834Ile) c.5455C>A (p.Leu1819Ile) c.4579C>A (p.Leu1527Ile) c.4348C>A (p.Leu1450Ile) | |
| 10 | g.94304484C= | CA1929000758 | PLCE1 | c.4537C= (p.Leu1513=) c.*2004C= (n.*2004C=) n.2196C= n.880C= c.*745C= (n.*745C=) c.4489C= (p.Leu1497=) n.9669C= n.3134C= c.5329C= (p.Leu1777=) c.5413C= (p.Leu1805=) c.5461C= (p.Leu1821=) c.4435C= (p.Leu1479=) c.4016C= c.3577C= (p.Leu1193=) c.*1394C= (n.*1394C=) c.4730C= c.5503C= (p.Leu1835=) c.5500C= (p.Leu1834=) c.5455C= (p.Leu1819=) c.4579C= (p.Leu1527=) c.4348C= (p.Leu1450=) | |
| 10 | g.94304484C>G | CA377642696 | PLCE1 | c.4537C>G (p.Leu1513Val) c.*2004C>G (n.*2004C>G) n.2196C>G n.880C>G c.*745C>G (n.*745C>G) c.4489C>G (p.Leu1497Val) n.9669C>G n.3134C>G c.5329C>G (p.Leu1777Val) c.5413C>G (p.Leu1805Val) c.5461C>G (p.Leu1821Val) c.4435C>G (p.Leu1479Val) c.4016C>G c.3577C>G (p.Leu1193Val) c.*1394C>G (n.*1394C>G) c.4730C>G c.5503C>G (p.Leu1835Val) c.5500C>G (p.Leu1834Val) c.5455C>G (p.Leu1819Val) c.4579C>G (p.Leu1527Val) c.4348C>G (p.Leu1450Val) | |
| 10 | g.94304484C>T | CA377642697 | PLCE1 | c.4537C>T (p.Leu1513Phe) c.*2004C>T (n.*2004C>T) n.2196C>T n.880C>T c.*745C>T (n.*745C>T) c.4489C>T (p.Leu1497Phe) n.9669C>T n.3134C>T c.5329C>T (p.Leu1777Phe) c.5413C>T (p.Leu1805Phe) c.5461C>T (p.Leu1821Phe) c.4435C>T (p.Leu1479Phe) c.4016C>T c.3577C>T (p.Leu1193Phe) c.*1394C>T (n.*1394C>T) c.4730C>T c.5503C>T (p.Leu1835Phe) c.5500C>T (p.Leu1834Phe) c.5455C>T (p.Leu1819Phe) c.4579C>T (p.Leu1527Phe) c.4348C>T (p.Leu1450Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.94304485T>A | CA377642698 | PLCE1 | c.4538T>A (p.Leu1513His) c.*2005T>A (n.*2005T>A) n.2197T>A n.881T>A c.*746T>A (n.*746T>A) c.4490T>A (p.Leu1497His) n.9670T>A n.3135T>A c.5330T>A (p.Leu1777His) c.5414T>A (p.Leu1805His) c.5462T>A (p.Leu1821His) c.4436T>A (p.Leu1479His) c.4017T>A c.3578T>A (p.Leu1193His) c.*1395T>A (n.*1395T>A) c.4731T>A c.5504T>A (p.Leu1835His) c.5501T>A (p.Leu1834His) c.5456T>A (p.Leu1819His) c.4580T>A (p.Leu1527His) c.4349T>A (p.Leu1450His) | |
| 10 | g.94304485T>C | CA377642699 | PLCE1 | c.4538T>C (p.Leu1513Pro) c.*2005T>C (n.*2005T>C) n.2197T>C n.881T>C c.*746T>C (n.*746T>C) c.4490T>C (p.Leu1497Pro) n.9670T>C n.3135T>C c.5330T>C (p.Leu1777Pro) c.5414T>C (p.Leu1805Pro) c.5462T>C (p.Leu1821Pro) c.4436T>C (p.Leu1479Pro) c.4017T>C c.3578T>C (p.Leu1193Pro) c.*1395T>C (n.*1395T>C) c.4731T>C c.5504T>C (p.Leu1835Pro) c.5501T>C (p.Leu1834Pro) c.5456T>C (p.Leu1819Pro) c.4580T>C (p.Leu1527Pro) c.4349T>C (p.Leu1450Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94304485T>G | CA377642700 | PLCE1 | c.4538T>G (p.Leu1513Arg) c.*2005T>G (n.*2005T>G) n.2197T>G n.881T>G c.*746T>G (n.*746T>G) c.4490T>G (p.Leu1497Arg) n.9670T>G n.3135T>G c.5330T>G (p.Leu1777Arg) c.5414T>G (p.Leu1805Arg) c.5462T>G (p.Leu1821Arg) c.4436T>G (p.Leu1479Arg) c.4017T>G c.3578T>G (p.Leu1193Arg) c.*1395T>G (n.*1395T>G) c.4731T>G c.5504T>G (p.Leu1835Arg) c.5501T>G (p.Leu1834Arg) c.5456T>G (p.Leu1819Arg) c.4580T>G (p.Leu1527Arg) c.4349T>G (p.Leu1450Arg) | |
| 10 | g.94304485T= | CA1929000759 | PLCE1 | c.4538T= (p.Leu1513=) c.*2005T= (n.*2005T=) n.2197T= n.881T= c.*746T= (n.*746T=) c.4490T= (p.Leu1497=) n.9670T= n.3135T= c.5330T= (p.Leu1777=) c.5414T= (p.Leu1805=) c.5462T= (p.Leu1821=) c.4436T= (p.Leu1479=) c.4017T= c.3578T= (p.Leu1193=) c.*1395T= (n.*1395T=) c.4731T= c.5504T= (p.Leu1835=) c.5501T= (p.Leu1834=) c.5456T= (p.Leu1819=) c.4580T= (p.Leu1527=) c.4349T= (p.Leu1450=) | |
| 10 | g.94304486C>A | CA470808447 | PLCE1 | c.4539C>A (p.Leu1513=) c.*2006C>A (n.*2006C>A) n.2198C>A n.882C>A c.*747C>A (n.*747C>A) c.4491C>A (p.Leu1497=) n.9671C>A n.3136C>A c.5331C>A (p.Leu1777=) c.5415C>A (p.Leu1805=) c.5463C>A (p.Leu1821=) c.4437C>A (p.Leu1479=) c.4018C>A c.3579C>A (p.Leu1193=) c.*1396C>A (n.*1396C>A) c.4732C>A c.5505C>A (p.Leu1835=) c.5502C>A (p.Leu1834=) c.5457C>A (p.Leu1819=) c.4581C>A (p.Leu1527=) c.4350C>A (p.Leu1450=) | |
| 10 | g.94304486C= | CA1929000760 | PLCE1 | c.4539C= (p.Leu1513=) c.*2006C= (n.*2006C=) n.2198C= n.882C= c.*747C= (n.*747C=) c.4491C= (p.Leu1497=) n.9671C= n.3136C= c.5331C= (p.Leu1777=) c.5415C= (p.Leu1805=) c.5463C= (p.Leu1821=) c.4437C= (p.Leu1479=) c.4018C= c.3579C= (p.Leu1193=) c.*1396C= (n.*1396C=) c.4732C= c.5505C= (p.Leu1835=) c.5502C= (p.Leu1834=) c.5457C= (p.Leu1819=) c.4581C= (p.Leu1527=) c.4350C= (p.Leu1450=) | |
| 10 | g.94304486C>G | CA470808448 | PLCE1 | c.4539C>G (p.Leu1513=) c.*2006C>G (n.*2006C>G) n.2198C>G n.882C>G c.*747C>G (n.*747C>G) c.4491C>G (p.Leu1497=) n.9671C>G n.3136C>G c.5331C>G (p.Leu1777=) c.5415C>G (p.Leu1805=) c.5463C>G (p.Leu1821=) c.4437C>G (p.Leu1479=) c.4018C>G c.3579C>G (p.Leu1193=) c.*1396C>G (n.*1396C>G) c.4732C>G c.5505C>G (p.Leu1835=) c.5502C>G (p.Leu1834=) c.5457C>G (p.Leu1819=) c.4581C>G (p.Leu1527=) c.4350C>G (p.Leu1450=) | |
| 10 | g.94304486C>T | CA5613373 | PLCE1 | c.4539C>T (p.Leu1513=) c.*2006C>T (n.*2006C>T) n.2198C>T n.882C>T c.*747C>T (n.*747C>T) c.4491C>T (p.Leu1497=) n.9671C>T n.3136C>T c.5331C>T (p.Leu1777=) c.5415C>T (p.Leu1805=) c.5463C>T (p.Leu1821=) c.4437C>T (p.Leu1479=) c.4018C>T c.3579C>T (p.Leu1193=) c.*1396C>T (n.*1396C>T) c.4732C>T c.5505C>T (p.Leu1835=) c.5502C>T (p.Leu1834=) c.5457C>T (p.Leu1819=) c.4581C>T (p.Leu1527=) c.4350C>T (p.Leu1450=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94304487C>A | CA377642701 | PLCE1 | c.4540C>A (p.Pro1514Thr) c.*2007C>A (n.*2007C>A) n.2199C>A n.883C>A c.*748C>A (n.*748C>A) c.4492C>A (p.Pro1498Thr) n.9672C>A n.3137C>A c.5332C>A (p.Pro1778Thr) c.5416C>A (p.Pro1806Thr) c.5464C>A (p.Pro1822Thr) c.4438C>A (p.Pro1480Thr) c.4019C>A c.3580C>A (p.Pro1194Thr) c.*1397C>A (n.*1397C>A) c.4733C>A c.5506C>A (p.Pro1836Thr) c.5503C>A (p.Pro1835Thr) c.5458C>A (p.Pro1820Thr) c.4582C>A (p.Pro1528Thr) c.4351C>A (p.Pro1451Thr) | |
| 10 | g.94304487C>G | CA377642702 | PLCE1 | c.4540C>G (p.Pro1514Ala) c.*2007C>G (n.*2007C>G) n.2199C>G n.883C>G c.*748C>G (n.*748C>G) c.4492C>G (p.Pro1498Ala) n.9672C>G n.3137C>G c.5332C>G (p.Pro1778Ala) c.5416C>G (p.Pro1806Ala) c.5464C>G (p.Pro1822Ala) c.4438C>G (p.Pro1480Ala) c.4019C>G c.3580C>G (p.Pro1194Ala) c.*1397C>G (n.*1397C>G) c.4733C>G c.5506C>G (p.Pro1836Ala) c.5503C>G (p.Pro1835Ala) c.5458C>G (p.Pro1820Ala) c.4582C>G (p.Pro1528Ala) c.4351C>G (p.Pro1451Ala) | |
| 10 | g.94304487C>T | CA377642703 | PLCE1 | c.4540C>T (p.Pro1514Ser) c.*2007C>T (n.*2007C>T) n.2199C>T n.883C>T c.*748C>T (n.*748C>T) c.4492C>T (p.Pro1498Ser) n.9672C>T n.3137C>T c.5332C>T (p.Pro1778Ser) c.5416C>T (p.Pro1806Ser) c.5464C>T (p.Pro1822Ser) c.4438C>T (p.Pro1480Ser) c.4019C>T c.3580C>T (p.Pro1194Ser) c.*1397C>T (n.*1397C>T) c.4733C>T c.5506C>T (p.Pro1836Ser) c.5503C>T (p.Pro1835Ser) c.5458C>T (p.Pro1820Ser) c.4582C>T (p.Pro1528Ser) c.4351C>T (p.Pro1451Ser) | |
| 10 | g.94304488C>A | CA377642704 | PLCE1 | c.4541C>A (p.Pro1514His) c.*2008C>A (n.*2008C>A) n.2200C>A n.884C>A c.*749C>A (n.*749C>A) c.4493C>A (p.Pro1498His) n.9673C>A n.3138C>A c.5333C>A (p.Pro1778His) c.5417C>A (p.Pro1806His) c.5465C>A (p.Pro1822His) c.4439C>A (p.Pro1480His) c.4020C>A c.3581C>A (p.Pro1194His) c.*1398C>A (n.*1398C>A) c.4734C>A c.5507C>A (p.Pro1836His) c.5504C>A (p.Pro1835His) c.5459C>A (p.Pro1820His) c.4583C>A (p.Pro1528His) c.4352C>A (p.Pro1451His) | |
| 10 | g.94304488C>G | CA377642705 | PLCE1 | c.4541C>G (p.Pro1514Arg) c.*2008C>G (n.*2008C>G) n.2200C>G n.884C>G c.*749C>G (n.*749C>G) c.4493C>G (p.Pro1498Arg) n.9673C>G n.3138C>G c.5333C>G (p.Pro1778Arg) c.5417C>G (p.Pro1806Arg) c.5465C>G (p.Pro1822Arg) c.4439C>G (p.Pro1480Arg) c.4020C>G c.3581C>G (p.Pro1194Arg) c.*1398C>G (n.*1398C>G) c.4734C>G c.5507C>G (p.Pro1836Arg) c.5504C>G (p.Pro1835Arg) c.5459C>G (p.Pro1820Arg) c.4583C>G (p.Pro1528Arg) c.4352C>G (p.Pro1451Arg) | |
| 10 | g.94304488C>T | CA377642706 | PLCE1 | c.4541C>T (p.Pro1514Leu) c.*2008C>T (n.*2008C>T) n.2200C>T n.884C>T c.*749C>T (n.*749C>T) c.4493C>T (p.Pro1498Leu) n.9673C>T n.3138C>T c.5333C>T (p.Pro1778Leu) c.5417C>T (p.Pro1806Leu) c.5465C>T (p.Pro1822Leu) c.4439C>T (p.Pro1480Leu) c.4020C>T c.3581C>T (p.Pro1194Leu) c.*1398C>T (n.*1398C>T) c.4734C>T c.5507C>T (p.Pro1836Leu) c.5504C>T (p.Pro1835Leu) c.5459C>T (p.Pro1820Leu) c.4583C>T (p.Pro1528Leu) c.4352C>T (p.Pro1451Leu) | |
| 10 | g.94304489T>A | CA470808450 | PLCE1 | c.4542T>A (p.Pro1514=) c.*2009T>A (n.*2009T>A) n.2201T>A n.885T>A c.*750T>A (n.*750T>A) c.4494T>A (p.Pro1498=) n.9674T>A n.3139T>A c.5334T>A (p.Pro1778=) c.5418T>A (p.Pro1806=) c.5466T>A (p.Pro1822=) c.4440T>A (p.Pro1480=) c.4021T>A c.3582T>A (p.Pro1194=) c.*1399T>A (n.*1399T>A) c.4735T>A c.5508T>A (p.Pro1836=) c.5505T>A (p.Pro1835=) c.5460T>A (p.Pro1820=) c.4584T>A (p.Pro1528=) c.4353T>A (p.Pro1451=) | |
| 10 | g.94304489T>C | CA470808453 | PLCE1 | c.4542T>C (p.Pro1514=) c.*2009T>C (n.*2009T>C) n.2201T>C n.885T>C c.*750T>C (n.*750T>C) c.4494T>C (p.Pro1498=) n.9674T>C n.3139T>C c.5334T>C (p.Pro1778=) c.5418T>C (p.Pro1806=) c.5466T>C (p.Pro1822=) c.4440T>C (p.Pro1480=) c.4021T>C c.3582T>C (p.Pro1194=) c.*1399T>C (n.*1399T>C) c.4735T>C c.5508T>C (p.Pro1836=) c.5505T>C (p.Pro1835=) c.5460T>C (p.Pro1820=) c.4584T>C (p.Pro1528=) c.4353T>C (p.Pro1451=) | |
| 10 | g.94304489T>G | CA470808452 | PLCE1 | c.4542T>G (p.Pro1514=) c.*2009T>G (n.*2009T>G) n.2201T>G n.885T>G c.*750T>G (n.*750T>G) c.4494T>G (p.Pro1498=) n.9674T>G n.3139T>G c.5334T>G (p.Pro1778=) c.5418T>G (p.Pro1806=) c.5466T>G (p.Pro1822=) c.4440T>G (p.Pro1480=) c.4021T>G c.3582T>G (p.Pro1194=) c.*1399T>G (n.*1399T>G) c.4735T>G c.5508T>G (p.Pro1836=) c.5505T>G (p.Pro1835=) c.5460T>G (p.Pro1820=) c.4584T>G (p.Pro1528=) c.4353T>G (p.Pro1451=) | |
| 10 | g.94304490T>A | CA377642707 | PLCE1 | c.4543T>A (p.Leu1515Ile) c.*2010T>A (n.*2010T>A) n.2202T>A n.886T>A c.*751T>A (n.*751T>A) c.4495T>A (p.Leu1499Ile) n.9675T>A n.3140T>A c.5335T>A (p.Leu1779Ile) c.5419T>A (p.Leu1807Ile) c.5467T>A (p.Leu1823Ile) c.4441T>A (p.Leu1481Ile) c.4022T>A c.3583T>A (p.Leu1195Ile) c.*1400T>A (n.*1400T>A) c.4736T>A c.5509T>A (p.Leu1837Ile) c.5506T>A (p.Leu1836Ile) c.5461T>A (p.Leu1821Ile) c.4585T>A (p.Leu1529Ile) c.4354T>A (p.Leu1452Ile) | |
| 10 | g.94304490T>C | CA470808455 | PLCE1 | c.4543T>C (p.Leu1515=) c.*2010T>C (n.*2010T>C) n.2202T>C n.886T>C c.*751T>C (n.*751T>C) c.4495T>C (p.Leu1499=) n.9675T>C n.3140T>C c.5335T>C (p.Leu1779=) c.5419T>C (p.Leu1807=) c.5467T>C (p.Leu1823=) c.4441T>C (p.Leu1481=) c.4022T>C c.3583T>C (p.Leu1195=) c.*1400T>C (n.*1400T>C) c.4736T>C c.5509T>C (p.Leu1837=) c.5506T>C (p.Leu1836=) c.5461T>C (p.Leu1821=) c.4585T>C (p.Leu1529=) c.4354T>C (p.Leu1452=) | |
| 10 | g.94304490T>G | CA377642708 | PLCE1 | c.4543T>G (p.Leu1515Val) c.*2010T>G (n.*2010T>G) n.2202T>G n.886T>G c.*751T>G (n.*751T>G) c.4495T>G (p.Leu1499Val) n.9675T>G n.3140T>G c.5335T>G (p.Leu1779Val) c.5419T>G (p.Leu1807Val) c.5467T>G (p.Leu1823Val) c.4441T>G (p.Leu1481Val) c.4022T>G c.3583T>G (p.Leu1195Val) c.*1400T>G (n.*1400T>G) c.4736T>G c.5509T>G (p.Leu1837Val) c.5506T>G (p.Leu1836Val) c.5461T>G (p.Leu1821Val) c.4585T>G (p.Leu1529Val) c.4354T>G (p.Leu1452Val) | |
| 10 | g.94304491T>A | CA377642709 | PLCE1 | c.4544T>A (p.Leu1515Ter) c.*2011T>A (n.*2011T>A) n.2203T>A n.887T>A c.*752T>A (n.*752T>A) c.4496T>A (p.Leu1499Ter) n.9676T>A n.3141T>A c.5336T>A (p.Leu1779Ter) c.5420T>A (p.Leu1807Ter) c.5468T>A (p.Leu1823Ter) c.4442T>A (p.Leu1481Ter) c.4023T>A c.3584T>A (p.Leu1195Ter) c.*1401T>A (n.*1401T>A) c.4737T>A c.5510T>A (p.Leu1837Ter) c.5507T>A (p.Leu1836Ter) c.5462T>A (p.Leu1821Ter) c.4586T>A (p.Leu1529Ter) c.4355T>A (p.Leu1452Ter) | |
| 10 | g.94304491T>C | CA377642710 | PLCE1 | c.4544T>C (p.Leu1515Ser) c.*2011T>C (n.*2011T>C) n.2203T>C n.887T>C c.*752T>C (n.*752T>C) c.4496T>C (p.Leu1499Ser) n.9676T>C n.3141T>C c.5336T>C (p.Leu1779Ser) c.5420T>C (p.Leu1807Ser) c.5468T>C (p.Leu1823Ser) c.4442T>C (p.Leu1481Ser) c.4023T>C c.3584T>C (p.Leu1195Ser) c.*1401T>C (n.*1401T>C) c.4737T>C c.5510T>C (p.Leu1837Ser) c.5507T>C (p.Leu1836Ser) c.5462T>C (p.Leu1821Ser) c.4586T>C (p.Leu1529Ser) c.4355T>C (p.Leu1452Ser) | |
| 10 | g.94304491T>G | CA377642711 | PLCE1 | c.4544T>G (p.Leu1515Ter) c.*2011T>G (n.*2011T>G) n.2203T>G n.887T>G c.*752T>G (n.*752T>G) c.4496T>G (p.Leu1499Ter) n.9676T>G n.3141T>G c.5336T>G (p.Leu1779Ter) c.5420T>G (p.Leu1807Ter) c.5468T>G (p.Leu1823Ter) c.4442T>G (p.Leu1481Ter) c.4023T>G c.3584T>G (p.Leu1195Ter) c.*1401T>G (n.*1401T>G) c.4737T>G c.5510T>G (p.Leu1837Ter) c.5507T>G (p.Leu1836Ter) c.5462T>G (p.Leu1821Ter) c.4586T>G (p.Leu1529Ter) c.4355T>G (p.Leu1452Ter) | |
| 10 | g.94304492A>C | CA377642712 | PLCE1 | c.4545A>C (p.Leu1515Phe) c.*2012A>C (n.*2012A>C) n.2204A>C n.888A>C c.*753A>C (n.*753A>C) c.4497A>C (p.Leu1499Phe) n.9677A>C n.3142A>C c.5337A>C (p.Leu1779Phe) c.5421A>C (p.Leu1807Phe) c.5469A>C (p.Leu1823Phe) c.4443A>C (p.Leu1481Phe) c.4024A>C c.3585A>C (p.Leu1195Phe) c.*1402A>C (n.*1402A>C) c.4738A>C c.5511A>C (p.Leu1837Phe) c.5508A>C (p.Leu1836Phe) c.5463A>C (p.Leu1821Phe) c.4587A>C (p.Leu1529Phe) c.4356A>C (p.Leu1452Phe) | |
| 10 | g.94304492A>G | CA470808457 | PLCE1 | c.4545A>G (p.Leu1515=) c.*2012A>G (n.*2012A>G) n.2204A>G n.888A>G c.*753A>G (n.*753A>G) c.4497A>G (p.Leu1499=) n.9677A>G n.3142A>G c.5337A>G (p.Leu1779=) c.5421A>G (p.Leu1807=) c.5469A>G (p.Leu1823=) c.4443A>G (p.Leu1481=) c.4024A>G c.3585A>G (p.Leu1195=) c.*1402A>G (n.*1402A>G) c.4738A>G c.5511A>G (p.Leu1837=) c.5508A>G (p.Leu1836=) c.5463A>G (p.Leu1821=) c.4587A>G (p.Leu1529=) c.4356A>G (p.Leu1452=) | |
| 10 | g.94304492A>T | CA377642713 | PLCE1 | c.4545A>T (p.Leu1515Phe) c.*2012A>T (n.*2012A>T) n.2204A>T n.888A>T c.*753A>T (n.*753A>T) c.4497A>T (p.Leu1499Phe) n.9677A>T n.3142A>T c.5337A>T (p.Leu1779Phe) c.5421A>T (p.Leu1807Phe) c.5469A>T (p.Leu1823Phe) c.4443A>T (p.Leu1481Phe) c.4024A>T c.3585A>T (p.Leu1195Phe) c.*1402A>T (n.*1402A>T) c.4738A>T c.5511A>T (p.Leu1837Phe) c.5508A>T (p.Leu1836Phe) c.5463A>T (p.Leu1821Phe) c.4587A>T (p.Leu1529Phe) c.4356A>T (p.Leu1452Phe) | |
| 10 | g.94304493C>A | CA377642714 | PLCE1 | c.4546C>A (p.His1516Asn) c.*2013C>A (n.*2013C>A) n.2205C>A n.889C>A c.*754C>A (n.*754C>A) c.4498C>A (p.His1500Asn) n.9678C>A n.3143C>A c.5338C>A (p.His1780Asn) c.5422C>A (p.His1808Asn) c.5470C>A (p.His1824Asn) c.4444C>A (p.His1482Asn) c.4025C>A c.3586C>A (p.His1196Asn) c.*1403C>A (n.*1403C>A) c.4739C>A c.5512C>A (p.His1838Asn) c.5509C>A (p.His1837Asn) c.5464C>A (p.His1822Asn) c.4588C>A (p.His1530Asn) c.4357C>A (p.His1453Asn) | |
| 10 | g.94304493C= | CA1929000761 | PLCE1 | c.4546C= (p.His1516=) c.*2013C= (n.*2013C=) n.2205C= n.889C= c.*754C= (n.*754C=) c.4498C= (p.His1500=) n.9678C= n.3143C= c.5338C= (p.His1780=) c.5422C= (p.His1808=) c.5470C= (p.His1824=) c.4444C= (p.His1482=) c.4025C= c.3586C= (p.His1196=) c.*1403C= (n.*1403C=) c.4739C= c.5512C= (p.His1838=) c.5509C= (p.His1837=) c.5464C= (p.His1822=) c.4588C= (p.His1530=) c.4357C= (p.His1453=) | |
| 10 | g.94304493C>G | CA377642715 | PLCE1 | c.4546C>G (p.His1516Asp) c.*2013C>G (n.*2013C>G) n.2205C>G n.889C>G c.*754C>G (n.*754C>G) c.4498C>G (p.His1500Asp) n.9678C>G n.3143C>G c.5338C>G (p.His1780Asp) c.5422C>G (p.His1808Asp) c.5470C>G (p.His1824Asp) c.4444C>G (p.His1482Asp) c.4025C>G c.3586C>G (p.His1196Asp) c.*1403C>G (n.*1403C>G) c.4739C>G c.5512C>G (p.His1838Asp) c.5509C>G (p.His1837Asp) c.5464C>G (p.His1822Asp) c.4588C>G (p.His1530Asp) c.4357C>G (p.His1453Asp) | |
| 10 | g.94304493C>T | CA377642716 | PLCE1 | c.4546C>T (p.His1516Tyr) c.*2013C>T (n.*2013C>T) n.2205C>T n.889C>T c.*754C>T (n.*754C>T) c.4498C>T (p.His1500Tyr) n.9678C>T n.3143C>T c.5338C>T (p.His1780Tyr) c.5422C>T (p.His1808Tyr) c.5470C>T (p.His1824Tyr) c.4444C>T (p.His1482Tyr) c.4025C>T c.3586C>T (p.His1196Tyr) c.*1403C>T (n.*1403C>T) c.4739C>T c.5512C>T (p.His1838Tyr) c.5509C>T (p.His1837Tyr) c.5464C>T (p.His1822Tyr) c.4588C>T (p.His1530Tyr) c.4357C>T (p.His1453Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.94304494A>C | CA377642717 | PLCE1 | c.4547A>C (p.His1516Pro) c.*2014A>C (n.*2014A>C) n.2206A>C n.890A>C c.*755A>C (n.*755A>C) c.4499A>C (p.His1500Pro) n.9679A>C n.3144A>C c.5339A>C (p.His1780Pro) c.5423A>C (p.His1808Pro) c.5471A>C (p.His1824Pro) c.4445A>C (p.His1482Pro) c.4026A>C c.3587A>C (p.His1196Pro) c.*1404A>C (n.*1404A>C) c.4740A>C c.5513A>C (p.His1838Pro) c.5510A>C (p.His1837Pro) c.5465A>C (p.His1822Pro) c.4589A>C (p.His1530Pro) c.4358A>C (p.His1453Pro) | |
| 10 | g.94304494A>G | CA377642718 | PLCE1 | c.4547A>G (p.His1516Arg) c.*2014A>G (n.*2014A>G) n.2206A>G n.890A>G c.*755A>G (n.*755A>G) c.4499A>G (p.His1500Arg) n.9679A>G n.3144A>G c.5339A>G (p.His1780Arg) c.5423A>G (p.His1808Arg) c.5471A>G (p.His1824Arg) c.4445A>G (p.His1482Arg) c.4026A>G c.3587A>G (p.His1196Arg) c.*1404A>G (n.*1404A>G) c.4740A>G c.5513A>G (p.His1838Arg) c.5510A>G (p.His1837Arg) c.5465A>G (p.His1822Arg) c.4589A>G (p.His1530Arg) c.4358A>G (p.His1453Arg) | |
| 10 | g.94304494A>T | CA377642719 | PLCE1 | c.4547A>T (p.His1516Leu) c.*2014A>T (n.*2014A>T) n.2206A>T n.890A>T c.*755A>T (n.*755A>T) c.4499A>T (p.His1500Leu) n.9679A>T n.3144A>T c.5339A>T (p.His1780Leu) c.5423A>T (p.His1808Leu) c.5471A>T (p.His1824Leu) c.4445A>T (p.His1482Leu) c.4026A>T c.3587A>T (p.His1196Leu) c.*1404A>T (n.*1404A>T) c.4740A>T c.5513A>T (p.His1838Leu) c.5510A>T (p.His1837Leu) c.5465A>T (p.His1822Leu) c.4589A>T (p.His1530Leu) c.4358A>T (p.His1453Leu) | |
| 10 | g.94304495T>A | CA377642720 | PLCE1 | c.4548T>A (p.His1516Gln) c.*2015T>A (n.*2015T>A) n.2207T>A n.891T>A c.*756T>A (n.*756T>A) c.4500T>A (p.His1500Gln) n.9680T>A n.3145T>A c.5340T>A (p.His1780Gln) c.5424T>A (p.His1808Gln) c.5472T>A (p.His1824Gln) c.4446T>A (p.His1482Gln) c.4027T>A c.3588T>A (p.His1196Gln) c.*1405T>A (n.*1405T>A) c.4741T>A c.5514T>A (p.His1838Gln) c.5511T>A (p.His1837Gln) c.5466T>A (p.His1822Gln) c.4590T>A (p.His1530Gln) c.4359T>A (p.His1453Gln) | |
| 10 | g.94304495T>C | CA470808461 | PLCE1 | c.4548T>C (p.His1516=) c.*2015T>C (n.*2015T>C) n.2207T>C n.891T>C c.*756T>C (n.*756T>C) c.4500T>C (p.His1500=) n.9680T>C n.3145T>C c.5340T>C (p.His1780=) c.5424T>C (p.His1808=) c.5472T>C (p.His1824=) c.4446T>C (p.His1482=) c.4027T>C c.3588T>C (p.His1196=) c.*1405T>C (n.*1405T>C) c.4741T>C c.5514T>C (p.His1838=) c.5511T>C (p.His1837=) c.5466T>C (p.His1822=) c.4590T>C (p.His1530=) c.4359T>C (p.His1453=) | |
| 10 | g.94304495T>G | CA377642721 | PLCE1 | c.4548T>G (p.His1516Gln) c.*2015T>G (n.*2015T>G) n.2207T>G n.891T>G c.*756T>G (n.*756T>G) c.4500T>G (p.His1500Gln) n.9680T>G n.3145T>G c.5340T>G (p.His1780Gln) c.5424T>G (p.His1808Gln) c.5472T>G (p.His1824Gln) c.4446T>G (p.His1482Gln) c.4027T>G c.3588T>G (p.His1196Gln) c.*1405T>G (n.*1405T>G) c.4741T>G c.5514T>G (p.His1838Gln) c.5511T>G (p.His1837Gln) c.5466T>G (p.His1822Gln) c.4590T>G (p.His1530Gln) c.4359T>G (p.His1453Gln) | |
| 10 | g.94304497dup | CA2610239868 | PLCE1 | c.4550dup (p.Leu1517PhefsTer7) c.*2017dup (n.*2017dup) n.2209dup n.893dup c.*758dup (n.*758dup) c.4502dup (p.Leu1501PhefsTer7) n.9682dup n.3147dup c.5342dup (p.Leu1781PhefsTer7) c.5426dup (p.Leu1809PhefsTer7) c.5474dup (p.Leu1825PhefsTer7) c.4448dup (p.Leu1483PhefsTer7) c.4029dup c.3590dup (p.Leu1197PhefsTer7) c.*1407dup (n.*1407dup) c.4743dup c.5516dup (p.Leu1839PhefsTer7) c.5513dup (p.Leu1838PhefsTer7) c.5468dup (p.Leu1823PhefsTer7) c.4592dup (p.Leu1531PhefsTer7) c.4361dup (p.Leu1454PhefsTer7) | gnomAD v4 |
| 10 | g.94304496T>A | CA377642723 | PLCE1 | c.4549T>A (p.Leu1517Ile) c.*2016T>A (n.*2016T>A) n.2208T>A n.892T>A c.*757T>A (n.*757T>A) c.4501T>A (p.Leu1501Ile) n.9681T>A n.3146T>A c.5341T>A (p.Leu1781Ile) c.5425T>A (p.Leu1809Ile) c.5473T>A (p.Leu1825Ile) c.4447T>A (p.Leu1483Ile) c.4028T>A c.3589T>A (p.Leu1197Ile) c.*1406T>A (n.*1406T>A) c.4742T>A c.5515T>A (p.Leu1839Ile) c.5512T>A (p.Leu1838Ile) c.5467T>A (p.Leu1823Ile) c.4591T>A (p.Leu1531Ile) c.4360T>A (p.Leu1454Ile) | |
| 10 | g.94304496T>C | CA470808463 | PLCE1 | c.4549T>C (p.Leu1517=) c.*2016T>C (n.*2016T>C) n.2208T>C n.892T>C c.*757T>C (n.*757T>C) c.4501T>C (p.Leu1501=) n.9681T>C n.3146T>C c.5341T>C (p.Leu1781=) c.5425T>C (p.Leu1809=) c.5473T>C (p.Leu1825=) c.4447T>C (p.Leu1483=) c.4028T>C c.3589T>C (p.Leu1197=) c.*1406T>C (n.*1406T>C) c.4742T>C c.5515T>C (p.Leu1839=) c.5512T>C (p.Leu1838=) c.5467T>C (p.Leu1823=) c.4591T>C (p.Leu1531=) c.4360T>C (p.Leu1454=) | |
| 10 | g.94304496T>G | CA377642722 | PLCE1 | c.4549T>G (p.Leu1517Val) c.*2016T>G (n.*2016T>G) n.2208T>G n.892T>G c.*757T>G (n.*757T>G) c.4501T>G (p.Leu1501Val) n.9681T>G n.3146T>G c.5341T>G (p.Leu1781Val) c.5425T>G (p.Leu1809Val) c.5473T>G (p.Leu1825Val) c.4447T>G (p.Leu1483Val) c.4028T>G c.3589T>G (p.Leu1197Val) c.*1406T>G (n.*1406T>G) c.4742T>G c.5515T>G (p.Leu1839Val) c.5512T>G (p.Leu1838Val) c.5467T>G (p.Leu1823Val) c.4591T>G (p.Leu1531Val) c.4360T>G (p.Leu1454Val) | |
| 10 | g.94304497T>A | CA377642724 | PLCE1 | c.4550T>A (p.Leu1517Ter) c.*2017T>A (n.*2017T>A) n.2209T>A n.893T>A c.*758T>A (n.*758T>A) c.4502T>A (p.Leu1501Ter) n.9682T>A n.3147T>A c.5342T>A (p.Leu1781Ter) c.5426T>A (p.Leu1809Ter) c.5474T>A (p.Leu1825Ter) c.4448T>A (p.Leu1483Ter) c.4029T>A c.3590T>A (p.Leu1197Ter) c.*1407T>A (n.*1407T>A) c.4743T>A c.5516T>A (p.Leu1839Ter) c.5513T>A (p.Leu1838Ter) c.5468T>A (p.Leu1823Ter) c.4592T>A (p.Leu1531Ter) c.4361T>A (p.Leu1454Ter) | |
| 10 | g.94304497T>C | CA377642725 | PLCE1 | c.4550T>C (p.Leu1517Ser) c.*2017T>C (n.*2017T>C) n.2209T>C n.893T>C c.*758T>C (n.*758T>C) c.4502T>C (p.Leu1501Ser) n.9682T>C n.3147T>C c.5342T>C (p.Leu1781Ser) c.5426T>C (p.Leu1809Ser) c.5474T>C (p.Leu1825Ser) c.4448T>C (p.Leu1483Ser) c.4029T>C c.3590T>C (p.Leu1197Ser) c.*1407T>C (n.*1407T>C) c.4743T>C c.5516T>C (p.Leu1839Ser) c.5513T>C (p.Leu1838Ser) c.5468T>C (p.Leu1823Ser) c.4592T>C (p.Leu1531Ser) c.4361T>C (p.Leu1454Ser) | |
| 10 | g.94304497T>G | CA377642726 | PLCE1 | c.4550T>G (p.Leu1517Ter) c.*2017T>G (n.*2017T>G) n.2209T>G n.893T>G c.*758T>G (n.*758T>G) c.4502T>G (p.Leu1501Ter) n.9682T>G n.3147T>G c.5342T>G (p.Leu1781Ter) c.5426T>G (p.Leu1809Ter) c.5474T>G (p.Leu1825Ter) c.4448T>G (p.Leu1483Ter) c.4029T>G c.3590T>G (p.Leu1197Ter) c.*1407T>G (n.*1407T>G) c.4743T>G c.5516T>G (p.Leu1839Ter) c.5513T>G (p.Leu1838Ter) c.5468T>G (p.Leu1823Ter) c.4592T>G (p.Leu1531Ter) c.4361T>G (p.Leu1454Ter) |