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.94304583C>A | CA377643085 | PLCE1 | c.4636C>A (p.Gln1546Lys) c.*2103C>A (n.*2103C>A) n.2295C>A n.979C>A c.*844C>A (n.*844C>A) c.4588C>A (p.Gln1530Lys) n.9768C>A n.3233C>A c.5428C>A (p.Gln1810Lys) c.5512C>A (p.Gln1838Lys) c.5560C>A (p.Gln1854Lys) c.4534C>A (p.Gln1512Lys) c.4115C>A c.3676C>A (p.Gln1226Lys) c.*1493C>A (n.*1493C>A) c.4829C>A c.5602C>A (p.Gln1868Lys) c.5599C>A (p.Gln1867Lys) c.5554C>A (p.Gln1852Lys) c.4678C>A (p.Gln1560Lys) c.4447C>A (p.Gln1483Lys) | |
| 10 | g.94304583C= | CA1929000787 | PLCE1 | c.4636C= (p.Gln1546=) c.*2103C= (n.*2103C=) n.2295C= n.979C= c.*844C= (n.*844C=) c.4588C= (p.Gln1530=) n.9768C= n.3233C= c.5428C= (p.Gln1810=) c.5512C= (p.Gln1838=) c.5560C= (p.Gln1854=) c.4534C= (p.Gln1512=) c.4115C= c.3676C= (p.Gln1226=) c.*1493C= (n.*1493C=) c.4829C= c.5602C= (p.Gln1868=) c.5599C= (p.Gln1867=) c.5554C= (p.Gln1852=) c.4678C= (p.Gln1560=) c.4447C= (p.Gln1483=) | |
| 10 | g.94304583C>G | CA377643088 | PLCE1 | c.4636C>G (p.Gln1546Glu) c.*2103C>G (n.*2103C>G) n.2295C>G n.979C>G c.*844C>G (n.*844C>G) c.4588C>G (p.Gln1530Glu) n.9768C>G n.3233C>G c.5428C>G (p.Gln1810Glu) c.5512C>G (p.Gln1838Glu) c.5560C>G (p.Gln1854Glu) c.4534C>G (p.Gln1512Glu) c.4115C>G c.3676C>G (p.Gln1226Glu) c.*1493C>G (n.*1493C>G) c.4829C>G c.5602C>G (p.Gln1868Glu) c.5599C>G (p.Gln1867Glu) c.5554C>G (p.Gln1852Glu) c.4678C>G (p.Gln1560Glu) c.4447C>G (p.Gln1483Glu) | |
| 10 | g.94304583C>T | CA115496 | PLCE1 | c.4636C>T (p.Gln1546Ter) c.*2103C>T (n.*2103C>T) n.2295C>T n.979C>T c.*844C>T (n.*844C>T) c.4588C>T (p.Gln1530Ter) n.9768C>T n.3233C>T c.5428C>T (p.Gln1810Ter) c.5512C>T (p.Gln1838Ter) c.5560C>T (p.Gln1854Ter) c.4534C>T (p.Gln1512Ter) c.4115C>T c.3676C>T (p.Gln1226Ter) c.*1493C>T (n.*1493C>T) c.4829C>T c.5602C>T (p.Gln1868Ter) c.5599C>T (p.Gln1867Ter) c.5554C>T (p.Gln1852Ter) c.4678C>T (p.Gln1560Ter) c.4447C>T (p.Gln1483Ter) | ClinVar dbSNP |
| 10 | g.94304584A>C | CA377643089 | PLCE1 | c.4637A>C (p.Gln1546Pro) c.*2104A>C (n.*2104A>C) n.2296A>C n.980A>C c.*845A>C (n.*845A>C) c.4589A>C (p.Gln1530Pro) n.9769A>C n.3234A>C c.5429A>C (p.Gln1810Pro) c.5513A>C (p.Gln1838Pro) c.5561A>C (p.Gln1854Pro) c.4535A>C (p.Gln1512Pro) c.4116A>C c.3677A>C (p.Gln1226Pro) c.*1494A>C (n.*1494A>C) c.4830A>C c.5603A>C (p.Gln1868Pro) c.5600A>C (p.Gln1867Pro) c.5555A>C (p.Gln1852Pro) c.4679A>C (p.Gln1560Pro) c.4448A>C (p.Gln1483Pro) | gnomAD v4 |
| 10 | g.94304584A>G | CA377643092 | PLCE1 | c.4637A>G (p.Gln1546Arg) c.*2104A>G (n.*2104A>G) n.2296A>G n.980A>G c.*845A>G (n.*845A>G) c.4589A>G (p.Gln1530Arg) n.9769A>G n.3234A>G c.5429A>G (p.Gln1810Arg) c.5513A>G (p.Gln1838Arg) c.5561A>G (p.Gln1854Arg) c.4535A>G (p.Gln1512Arg) c.4116A>G c.3677A>G (p.Gln1226Arg) c.*1494A>G (n.*1494A>G) c.4830A>G c.5603A>G (p.Gln1868Arg) c.5600A>G (p.Gln1867Arg) c.5555A>G (p.Gln1852Arg) c.4679A>G (p.Gln1560Arg) c.4448A>G (p.Gln1483Arg) | gnomAD v4 |
| 10 | g.94304584A>T | CA377643090 | PLCE1 | c.4637A>T (p.Gln1546Leu) c.*2104A>T (n.*2104A>T) n.2296A>T n.980A>T c.*845A>T (n.*845A>T) c.4589A>T (p.Gln1530Leu) n.9769A>T n.3234A>T c.5429A>T (p.Gln1810Leu) c.5513A>T (p.Gln1838Leu) c.5561A>T (p.Gln1854Leu) c.4535A>T (p.Gln1512Leu) c.4116A>T c.3677A>T (p.Gln1226Leu) c.*1494A>T (n.*1494A>T) c.4830A>T c.5603A>T (p.Gln1868Leu) c.5600A>T (p.Gln1867Leu) c.5555A>T (p.Gln1852Leu) c.4679A>T (p.Gln1560Leu) c.4448A>T (p.Gln1483Leu) | |
| 10 | g.94304585G>A | CA470808611 | PLCE1 | c.4638G>A (p.Gln1546=) c.*2105G>A (n.*2105G>A) n.2297G>A n.981G>A c.*846G>A (n.*846G>A) c.4590G>A (p.Gln1530=) n.9770G>A n.3235G>A c.5430G>A (p.Gln1810=) c.5514G>A (p.Gln1838=) c.5562G>A (p.Gln1854=) c.4536G>A (p.Gln1512=) c.4117G>A c.3678G>A (p.Gln1226=) c.*1495G>A (n.*1495G>A) c.4831G>A c.5604G>A (p.Gln1868=) c.5601G>A (p.Gln1867=) c.5556G>A (p.Gln1852=) c.4680G>A (p.Gln1560=) c.4449G>A (p.Gln1483=) | dbSNP |
| 10 | g.94304585G>C | CA377643094 | PLCE1 | c.4638G>C (p.Gln1546His) c.*2105G>C (n.*2105G>C) n.2297G>C n.981G>C c.*846G>C (n.*846G>C) c.4590G>C (p.Gln1530His) n.9770G>C n.3235G>C c.5430G>C (p.Gln1810His) c.5514G>C (p.Gln1838His) c.5562G>C (p.Gln1854His) c.4536G>C (p.Gln1512His) c.4117G>C c.3678G>C (p.Gln1226His) c.*1495G>C (n.*1495G>C) c.4831G>C c.5604G>C (p.Gln1868His) c.5601G>C (p.Gln1867His) c.5556G>C (p.Gln1852His) c.4680G>C (p.Gln1560His) c.4449G>C (p.Gln1483His) | |
| 10 | g.94304585G= | CA1929000788 | PLCE1 | c.4638G= (p.Gln1546=) c.*2105G= (n.*2105G=) n.2297G= n.981G= c.*846G= (n.*846G=) c.4590G= (p.Gln1530=) n.9770G= n.3235G= c.5430G= (p.Gln1810=) c.5514G= (p.Gln1838=) c.5562G= (p.Gln1854=) c.4536G= (p.Gln1512=) c.4117G= c.3678G= (p.Gln1226=) c.*1495G= (n.*1495G=) c.4831G= c.5604G= (p.Gln1868=) c.5601G= (p.Gln1867=) c.5556G= (p.Gln1852=) c.4680G= (p.Gln1560=) c.4449G= (p.Gln1483=) | |
| 10 | g.94304585G>T | CA377643096 | PLCE1 | c.4638G>T (p.Gln1546His) c.*2105G>T (n.*2105G>T) n.2297G>T n.981G>T c.*846G>T (n.*846G>T) c.4590G>T (p.Gln1530His) n.9770G>T n.3235G>T c.5430G>T (p.Gln1810His) c.5514G>T (p.Gln1838His) c.5562G>T (p.Gln1854His) c.4536G>T (p.Gln1512His) c.4117G>T c.3678G>T (p.Gln1226His) c.*1495G>T (n.*1495G>T) c.4831G>T c.5604G>T (p.Gln1868His) c.5601G>T (p.Gln1867His) c.5556G>T (p.Gln1852His) c.4680G>T (p.Gln1560His) c.4449G>T (p.Gln1483His) | |
| 10 | g.94304586A= | CA1929000789 | PLCE1 | c.4639A= (p.Lys1547=) c.*2106A= (n.*2106A=) n.2298A= n.982A= c.*847A= (n.*847A=) c.4591A= (p.Lys1531=) n.9771A= n.3236A= c.5431A= (p.Lys1811=) c.5515A= (p.Lys1839=) c.5563A= (p.Lys1855=) c.4537A= (p.Lys1513=) c.4118A= c.3679A= (p.Lys1227=) c.*1496A= (n.*1496A=) c.4832A= c.5605A= (p.Lys1869=) c.5602A= (p.Lys1868=) c.5557A= (p.Lys1853=) c.4681A= (p.Lys1561=) c.4450A= (p.Lys1484=) | |
| 10 | g.94304586A>C | CA377643098 | PLCE1 | c.4639A>C (p.Lys1547Gln) c.*2106A>C (n.*2106A>C) n.2298A>C n.982A>C c.*847A>C (n.*847A>C) c.4591A>C (p.Lys1531Gln) n.9771A>C n.3236A>C c.5431A>C (p.Lys1811Gln) c.5515A>C (p.Lys1839Gln) c.5563A>C (p.Lys1855Gln) c.4537A>C (p.Lys1513Gln) c.4118A>C c.3679A>C (p.Lys1227Gln) c.*1496A>C (n.*1496A>C) c.4832A>C c.5605A>C (p.Lys1869Gln) c.5602A>C (p.Lys1868Gln) c.5557A>C (p.Lys1853Gln) c.4681A>C (p.Lys1561Gln) c.4450A>C (p.Lys1484Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94304586A>G | CA377643100 | PLCE1 | c.4639A>G (p.Lys1547Glu) c.*2106A>G (n.*2106A>G) n.2298A>G n.982A>G c.*847A>G (n.*847A>G) c.4591A>G (p.Lys1531Glu) n.9771A>G n.3236A>G c.5431A>G (p.Lys1811Glu) c.5515A>G (p.Lys1839Glu) c.5563A>G (p.Lys1855Glu) c.4537A>G (p.Lys1513Glu) c.4118A>G c.3679A>G (p.Lys1227Glu) c.*1496A>G (n.*1496A>G) c.4832A>G c.5605A>G (p.Lys1869Glu) c.5602A>G (p.Lys1868Glu) c.5557A>G (p.Lys1853Glu) c.4681A>G (p.Lys1561Glu) c.4450A>G (p.Lys1484Glu) | |
| 10 | g.94304586A>T | CA377643101 | PLCE1 | c.4639A>T (p.Lys1547Ter) c.*2106A>T (n.*2106A>T) n.2298A>T n.982A>T c.*847A>T (n.*847A>T) c.4591A>T (p.Lys1531Ter) n.9771A>T n.3236A>T c.5431A>T (p.Lys1811Ter) c.5515A>T (p.Lys1839Ter) c.5563A>T (p.Lys1855Ter) c.4537A>T (p.Lys1513Ter) c.4118A>T c.3679A>T (p.Lys1227Ter) c.*1496A>T (n.*1496A>T) c.4832A>T c.5605A>T (p.Lys1869Ter) c.5602A>T (p.Lys1868Ter) c.5557A>T (p.Lys1853Ter) c.4681A>T (p.Lys1561Ter) c.4450A>T (p.Lys1484Ter) | |
| 10 | g.94304587A= | CA1929000790 | PLCE1 | c.4640A= (p.Lys1547=) c.*2107A= (n.*2107A=) n.2299A= n.983A= c.*848A= (n.*848A=) c.4592A= (p.Lys1531=) n.9772A= n.3237A= c.5432A= (p.Lys1811=) c.5516A= (p.Lys1839=) c.5564A= (p.Lys1855=) c.4538A= (p.Lys1513=) c.4119A= c.3680A= (p.Lys1227=) c.*1497A= (n.*1497A=) c.4833A= c.5606A= (p.Lys1869=) c.5603A= (p.Lys1868=) c.5558A= (p.Lys1853=) c.4682A= (p.Lys1561=) c.4451A= (p.Lys1484=) | |
| 10 | g.94304587A>C | CA377643104 | PLCE1 | c.4640A>C (p.Lys1547Thr) c.*2107A>C (n.*2107A>C) n.2299A>C n.983A>C c.*848A>C (n.*848A>C) c.4592A>C (p.Lys1531Thr) n.9772A>C n.3237A>C c.5432A>C (p.Lys1811Thr) c.5516A>C (p.Lys1839Thr) c.5564A>C (p.Lys1855Thr) c.4538A>C (p.Lys1513Thr) c.4119A>C c.3680A>C (p.Lys1227Thr) c.*1497A>C (n.*1497A>C) c.4833A>C c.5606A>C (p.Lys1869Thr) c.5603A>C (p.Lys1868Thr) c.5558A>C (p.Lys1853Thr) c.4682A>C (p.Lys1561Thr) c.4451A>C (p.Lys1484Thr) | |
| 10 | g.94304587A>G | CA377643105 | PLCE1 | c.4640A>G (p.Lys1547Arg) c.*2107A>G (n.*2107A>G) n.2299A>G n.983A>G c.*848A>G (n.*848A>G) c.4592A>G (p.Lys1531Arg) n.9772A>G n.3237A>G c.5432A>G (p.Lys1811Arg) c.5516A>G (p.Lys1839Arg) c.5564A>G (p.Lys1855Arg) c.4538A>G (p.Lys1513Arg) c.4119A>G c.3680A>G (p.Lys1227Arg) c.*1497A>G (n.*1497A>G) c.4833A>G c.5606A>G (p.Lys1869Arg) c.5603A>G (p.Lys1868Arg) c.5558A>G (p.Lys1853Arg) c.4682A>G (p.Lys1561Arg) c.4451A>G (p.Lys1484Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94304587A>T | CA377643107 | PLCE1 | c.4640A>T (p.Lys1547Met) c.*2107A>T (n.*2107A>T) n.2299A>T n.983A>T c.*848A>T (n.*848A>T) c.4592A>T (p.Lys1531Met) n.9772A>T n.3237A>T c.5432A>T (p.Lys1811Met) c.5516A>T (p.Lys1839Met) c.5564A>T (p.Lys1855Met) c.4538A>T (p.Lys1513Met) c.4119A>T c.3680A>T (p.Lys1227Met) c.*1497A>T (n.*1497A>T) c.4833A>T c.5606A>T (p.Lys1869Met) c.5603A>T (p.Lys1868Met) c.5558A>T (p.Lys1853Met) c.4682A>T (p.Lys1561Met) c.4451A>T (p.Lys1484Met) | |
| 10 | g.94304588G>A | CA470808612 | PLCE1 | c.4641G>A (p.Lys1547=) c.*2108G>A (n.*2108G>A) n.2300G>A n.984G>A c.*849G>A (n.*849G>A) c.4593G>A (p.Lys1531=) n.9773G>A n.3238G>A c.5433G>A (p.Lys1811=) c.5517G>A (p.Lys1839=) c.5565G>A (p.Lys1855=) c.4539G>A (p.Lys1513=) c.4120G>A c.3681G>A (p.Lys1227=) c.*1498G>A (n.*1498G>A) c.4834G>A c.5607G>A (p.Lys1869=) c.5604G>A (p.Lys1868=) c.5559G>A (p.Lys1853=) c.4683G>A (p.Lys1561=) c.4452G>A (p.Lys1484=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94304588G>C | CA377643109 | PLCE1 | c.4641G>C (p.Lys1547Asn) c.*2108G>C (n.*2108G>C) n.2300G>C n.984G>C c.*849G>C (n.*849G>C) c.4593G>C (p.Lys1531Asn) n.9773G>C n.3238G>C c.5433G>C (p.Lys1811Asn) c.5517G>C (p.Lys1839Asn) c.5565G>C (p.Lys1855Asn) c.4539G>C (p.Lys1513Asn) c.4120G>C c.3681G>C (p.Lys1227Asn) c.*1498G>C (n.*1498G>C) c.4834G>C c.5607G>C (p.Lys1869Asn) c.5604G>C (p.Lys1868Asn) c.5559G>C (p.Lys1853Asn) c.4683G>C (p.Lys1561Asn) c.4452G>C (p.Lys1484Asn) | |
| 10 | g.94304588G= | CA1929000791 | PLCE1 | c.4641G= (p.Lys1547=) c.*2108G= (n.*2108G=) n.2300G= n.984G= c.*849G= (n.*849G=) c.4593G= (p.Lys1531=) n.9773G= n.3238G= c.5433G= (p.Lys1811=) c.5517G= (p.Lys1839=) c.5565G= (p.Lys1855=) c.4539G= (p.Lys1513=) c.4120G= c.3681G= (p.Lys1227=) c.*1498G= (n.*1498G=) c.4834G= c.5607G= (p.Lys1869=) c.5604G= (p.Lys1868=) c.5559G= (p.Lys1853=) c.4683G= (p.Lys1561=) c.4452G= (p.Lys1484=) | |
| 10 | g.94304588G>T | CA377643110 | PLCE1 | c.4641G>T (p.Lys1547Asn) c.*2108G>T (n.*2108G>T) n.2300G>T n.984G>T c.*849G>T (n.*849G>T) c.4593G>T (p.Lys1531Asn) n.9773G>T n.3238G>T c.5433G>T (p.Lys1811Asn) c.5517G>T (p.Lys1839Asn) c.5565G>T (p.Lys1855Asn) c.4539G>T (p.Lys1513Asn) c.4120G>T c.3681G>T (p.Lys1227Asn) c.*1498G>T (n.*1498G>T) c.4834G>T c.5607G>T (p.Lys1869Asn) c.5604G>T (p.Lys1868Asn) c.5559G>T (p.Lys1853Asn) c.4683G>T (p.Lys1561Asn) c.4452G>T (p.Lys1484Asn) | |
| 10 | g.94304589T>A | CA377643116 | PLCE1 | c.4642T>A (p.Phe1548Ile) c.*2109T>A (n.*2109T>A) n.2301T>A n.985T>A c.*850T>A (n.*850T>A) c.4594T>A (p.Phe1532Ile) n.9774T>A n.3239T>A c.5434T>A (p.Phe1812Ile) c.5518T>A (p.Phe1840Ile) c.5566T>A (p.Phe1856Ile) c.4540T>A (p.Phe1514Ile) c.4121T>A c.3682T>A (p.Phe1228Ile) c.*1499T>A (n.*1499T>A) c.4835T>A c.5608T>A (p.Phe1870Ile) c.5605T>A (p.Phe1869Ile) c.5560T>A (p.Phe1854Ile) c.4684T>A (p.Phe1562Ile) c.4453T>A (p.Phe1485Ile) | |
| 10 | g.94304589T>C | CA377643115 | PLCE1 | c.4642T>C (p.Phe1548Leu) c.*2109T>C (n.*2109T>C) n.2301T>C n.985T>C c.*850T>C (n.*850T>C) c.4594T>C (p.Phe1532Leu) n.9774T>C n.3239T>C c.5434T>C (p.Phe1812Leu) c.5518T>C (p.Phe1840Leu) c.5566T>C (p.Phe1856Leu) c.4540T>C (p.Phe1514Leu) c.4121T>C c.3682T>C (p.Phe1228Leu) c.*1499T>C (n.*1499T>C) c.4835T>C c.5608T>C (p.Phe1870Leu) c.5605T>C (p.Phe1869Leu) c.5560T>C (p.Phe1854Leu) c.4684T>C (p.Phe1562Leu) c.4453T>C (p.Phe1485Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94304589T>G | CA377643113 | PLCE1 | c.4642T>G (p.Phe1548Val) c.*2109T>G (n.*2109T>G) n.2301T>G n.985T>G c.*850T>G (n.*850T>G) c.4594T>G (p.Phe1532Val) n.9774T>G n.3239T>G c.5434T>G (p.Phe1812Val) c.5518T>G (p.Phe1840Val) c.5566T>G (p.Phe1856Val) c.4540T>G (p.Phe1514Val) c.4121T>G c.3682T>G (p.Phe1228Val) c.*1499T>G (n.*1499T>G) c.4835T>G c.5608T>G (p.Phe1870Val) c.5605T>G (p.Phe1869Val) c.5560T>G (p.Phe1854Val) c.4684T>G (p.Phe1562Val) c.4453T>G (p.Phe1485Val) | |
| 10 | g.94304589T= | CA1929000792 | PLCE1 | c.4642T= (p.Phe1548=) c.*2109T= (n.*2109T=) n.2301T= n.985T= c.*850T= (n.*850T=) c.4594T= (p.Phe1532=) n.9774T= n.3239T= c.5434T= (p.Phe1812=) c.5518T= (p.Phe1840=) c.5566T= (p.Phe1856=) c.4540T= (p.Phe1514=) c.4121T= c.3682T= (p.Phe1228=) c.*1499T= (n.*1499T=) c.4835T= c.5608T= (p.Phe1870=) c.5605T= (p.Phe1869=) c.5560T= (p.Phe1854=) c.4684T= (p.Phe1562=) c.4453T= (p.Phe1485=) | |
| 10 | g.94304592del | CA2574455411 | PLCE1 | c.4645del (p.Ser1549LeufsTer3) c.*2112del (n.*2112del) n.2304del n.988del c.*853del (n.*853del) c.4597del (p.Ser1533LeufsTer3) n.9777del n.3242del c.5437del (p.Ser1813LeufsTer3) c.5521del (p.Ser1841LeufsTer3) c.5569del (p.Ser1857LeufsTer3) c.4543del (p.Ser1515LeufsTer3) c.4124del c.3685del (p.Ser1229LeufsTer3) c.*1502del (n.*1502del) c.4838del c.5611del (p.Ser1871LeufsTer3) c.5608del (p.Ser1870LeufsTer3) c.5563del (p.Ser1855LeufsTer3) c.4687del (p.Ser1563LeufsTer3) c.4456del (p.Ser1486LeufsTer3) | gnomAD v4 |
| 10 | g.94304590T>A | CA377643118 | PLCE1 | c.4643T>A (p.Phe1548Tyr) c.*2110T>A (n.*2110T>A) n.2302T>A n.986T>A c.*851T>A (n.*851T>A) c.4595T>A (p.Phe1532Tyr) n.9775T>A n.3240T>A c.5435T>A (p.Phe1812Tyr) c.5519T>A (p.Phe1840Tyr) c.5567T>A (p.Phe1856Tyr) c.4541T>A (p.Phe1514Tyr) c.4122T>A c.3683T>A (p.Phe1228Tyr) c.*1500T>A (n.*1500T>A) c.4836T>A c.5609T>A (p.Phe1870Tyr) c.5606T>A (p.Phe1869Tyr) c.5561T>A (p.Phe1854Tyr) c.4685T>A (p.Phe1562Tyr) c.4454T>A (p.Phe1485Tyr) | |
| 10 | g.94304590T>C | CA377643119 | PLCE1 | c.4643T>C (p.Phe1548Ser) c.*2110T>C (n.*2110T>C) n.2302T>C n.986T>C c.*851T>C (n.*851T>C) c.4595T>C (p.Phe1532Ser) n.9775T>C n.3240T>C c.5435T>C (p.Phe1812Ser) c.5519T>C (p.Phe1840Ser) c.5567T>C (p.Phe1856Ser) c.4541T>C (p.Phe1514Ser) c.4122T>C c.3683T>C (p.Phe1228Ser) c.*1500T>C (n.*1500T>C) c.4836T>C c.5609T>C (p.Phe1870Ser) c.5606T>C (p.Phe1869Ser) c.5561T>C (p.Phe1854Ser) c.4685T>C (p.Phe1562Ser) c.4454T>C (p.Phe1485Ser) | gnomAD v4 |
| 10 | g.94304590T>G | CA377643120 | PLCE1 | c.4643T>G (p.Phe1548Cys) c.*2110T>G (n.*2110T>G) n.2302T>G n.986T>G c.*851T>G (n.*851T>G) c.4595T>G (p.Phe1532Cys) n.9775T>G n.3240T>G c.5435T>G (p.Phe1812Cys) c.5519T>G (p.Phe1840Cys) c.5567T>G (p.Phe1856Cys) c.4541T>G (p.Phe1514Cys) c.4122T>G c.3683T>G (p.Phe1228Cys) c.*1500T>G (n.*1500T>G) c.4836T>G c.5609T>G (p.Phe1870Cys) c.5606T>G (p.Phe1869Cys) c.5561T>G (p.Phe1854Cys) c.4685T>G (p.Phe1562Cys) c.4454T>G (p.Phe1485Cys) | |
| 10 | g.94304591T>A | CA377643123 | PLCE1 | c.4644T>A (p.Phe1548Leu) c.*2111T>A (n.*2111T>A) n.2303T>A n.987T>A c.*852T>A (n.*852T>A) c.4596T>A (p.Phe1532Leu) n.9776T>A n.3241T>A c.5436T>A (p.Phe1812Leu) c.5520T>A (p.Phe1840Leu) c.5568T>A (p.Phe1856Leu) c.4542T>A (p.Phe1514Leu) c.4123T>A c.3684T>A (p.Phe1228Leu) c.*1501T>A (n.*1501T>A) c.4837T>A c.5610T>A (p.Phe1870Leu) c.5607T>A (p.Phe1869Leu) c.5562T>A (p.Phe1854Leu) c.4686T>A (p.Phe1562Leu) c.4455T>A (p.Phe1485Leu) | |
| 10 | g.94304591T>C | CA470808613 | PLCE1 | c.4644T>C (p.Phe1548=) c.*2111T>C (n.*2111T>C) n.2303T>C n.987T>C c.*852T>C (n.*852T>C) c.4596T>C (p.Phe1532=) n.9776T>C n.3241T>C c.5436T>C (p.Phe1812=) c.5520T>C (p.Phe1840=) c.5568T>C (p.Phe1856=) c.4542T>C (p.Phe1514=) c.4123T>C c.3684T>C (p.Phe1228=) c.*1501T>C (n.*1501T>C) c.4837T>C c.5610T>C (p.Phe1870=) c.5607T>C (p.Phe1869=) c.5562T>C (p.Phe1854=) c.4686T>C (p.Phe1562=) c.4455T>C (p.Phe1485=) | |
| 10 | g.94304591T>G | CA377643125 | PLCE1 | c.4644T>G (p.Phe1548Leu) c.*2111T>G (n.*2111T>G) n.2303T>G n.987T>G c.*852T>G (n.*852T>G) c.4596T>G (p.Phe1532Leu) n.9776T>G n.3241T>G c.5436T>G (p.Phe1812Leu) c.5520T>G (p.Phe1840Leu) c.5568T>G (p.Phe1856Leu) c.4542T>G (p.Phe1514Leu) c.4123T>G c.3684T>G (p.Phe1228Leu) c.*1501T>G (n.*1501T>G) c.4837T>G c.5610T>G (p.Phe1870Leu) c.5607T>G (p.Phe1869Leu) c.5562T>G (p.Phe1854Leu) c.4686T>G (p.Phe1562Leu) c.4455T>G (p.Phe1485Leu) | |
| 10 | g.94304592T>A | CA377643127 | PLCE1 | c.4645T>A (p.Ser1549Thr) c.*2112T>A (n.*2112T>A) n.2304T>A n.988T>A c.*853T>A (n.*853T>A) c.4597T>A (p.Ser1533Thr) n.9777T>A n.3242T>A c.5437T>A (p.Ser1813Thr) c.5521T>A (p.Ser1841Thr) c.5569T>A (p.Ser1857Thr) c.4543T>A (p.Ser1515Thr) c.4124T>A c.3685T>A (p.Ser1229Thr) c.*1502T>A (n.*1502T>A) c.4838T>A c.5611T>A (p.Ser1871Thr) c.5608T>A (p.Ser1870Thr) c.5563T>A (p.Ser1855Thr) c.4687T>A (p.Ser1563Thr) c.4456T>A (p.Ser1486Thr) | |
| 10 | g.94304592T>C | CA377643129 | PLCE1 | c.4645T>C (p.Ser1549Pro) c.*2112T>C (n.*2112T>C) n.2304T>C n.988T>C c.*853T>C (n.*853T>C) c.4597T>C (p.Ser1533Pro) n.9777T>C n.3242T>C c.5437T>C (p.Ser1813Pro) c.5521T>C (p.Ser1841Pro) c.5569T>C (p.Ser1857Pro) c.4543T>C (p.Ser1515Pro) c.4124T>C c.3685T>C (p.Ser1229Pro) c.*1502T>C (n.*1502T>C) c.4838T>C c.5611T>C (p.Ser1871Pro) c.5608T>C (p.Ser1870Pro) c.5563T>C (p.Ser1855Pro) c.4687T>C (p.Ser1563Pro) c.4456T>C (p.Ser1486Pro) | |
| 10 | g.94304592T>G | CA377643131 | PLCE1 | c.4645T>G (p.Ser1549Ala) c.*2112T>G (n.*2112T>G) n.2304T>G n.988T>G c.*853T>G (n.*853T>G) c.4597T>G (p.Ser1533Ala) n.9777T>G n.3242T>G c.5437T>G (p.Ser1813Ala) c.5521T>G (p.Ser1841Ala) c.5569T>G (p.Ser1857Ala) c.4543T>G (p.Ser1515Ala) c.4124T>G c.3685T>G (p.Ser1229Ala) c.*1502T>G (n.*1502T>G) c.4838T>G c.5611T>G (p.Ser1871Ala) c.5608T>G (p.Ser1870Ala) c.5563T>G (p.Ser1855Ala) c.4687T>G (p.Ser1563Ala) c.4456T>G (p.Ser1486Ala) | |
| 10 | g.94304593C>A | CA377643133 | PLCE1 | c.4646C>A (p.Ser1549Tyr) c.*2113C>A (n.*2113C>A) n.2305C>A n.989C>A c.*854C>A (n.*854C>A) c.4598C>A (p.Ser1533Tyr) n.9778C>A n.3243C>A c.5438C>A (p.Ser1813Tyr) c.5522C>A (p.Ser1841Tyr) c.5570C>A (p.Ser1857Tyr) c.4544C>A (p.Ser1515Tyr) c.4125C>A c.3686C>A (p.Ser1229Tyr) c.*1503C>A (n.*1503C>A) c.4839C>A c.5612C>A (p.Ser1871Tyr) c.5609C>A (p.Ser1870Tyr) c.5564C>A (p.Ser1855Tyr) c.4688C>A (p.Ser1563Tyr) c.4457C>A (p.Ser1486Tyr) | |
| 10 | g.94304593C>G | CA377643135 | PLCE1 | c.4646C>G (p.Ser1549Cys) c.*2113C>G (n.*2113C>G) n.2305C>G n.989C>G c.*854C>G (n.*854C>G) c.4598C>G (p.Ser1533Cys) n.9778C>G n.3243C>G c.5438C>G (p.Ser1813Cys) c.5522C>G (p.Ser1841Cys) c.5570C>G (p.Ser1857Cys) c.4544C>G (p.Ser1515Cys) c.4125C>G c.3686C>G (p.Ser1229Cys) c.*1503C>G (n.*1503C>G) c.4839C>G c.5612C>G (p.Ser1871Cys) c.5609C>G (p.Ser1870Cys) c.5564C>G (p.Ser1855Cys) c.4688C>G (p.Ser1563Cys) c.4457C>G (p.Ser1486Cys) | |
| 10 | g.94304593C>T | CA377643137 | PLCE1 | c.4646C>T (p.Ser1549Phe) c.*2113C>T (n.*2113C>T) n.2305C>T n.989C>T c.*854C>T (n.*854C>T) c.4598C>T (p.Ser1533Phe) n.9778C>T n.3243C>T c.5438C>T (p.Ser1813Phe) c.5522C>T (p.Ser1841Phe) c.5570C>T (p.Ser1857Phe) c.4544C>T (p.Ser1515Phe) c.4125C>T c.3686C>T (p.Ser1229Phe) c.*1503C>T (n.*1503C>T) c.4839C>T c.5612C>T (p.Ser1871Phe) c.5609C>T (p.Ser1870Phe) c.5564C>T (p.Ser1855Phe) c.4688C>T (p.Ser1563Phe) c.4457C>T (p.Ser1486Phe) | gnomAD v4 |
| 10 | g.94304594T>A | CA470808614 | PLCE1 | c.4647T>A (p.Ser1549=) c.*2114T>A (n.*2114T>A) n.2306T>A n.990T>A c.*855T>A (n.*855T>A) c.4599T>A (p.Ser1533=) n.9779T>A n.3244T>A c.5439T>A (p.Ser1813=) c.5523T>A (p.Ser1841=) c.5571T>A (p.Ser1857=) c.4545T>A (p.Ser1515=) c.4126T>A c.3687T>A (p.Ser1229=) c.*1504T>A (n.*1504T>A) c.4840T>A c.5613T>A (p.Ser1871=) c.5610T>A (p.Ser1870=) c.5565T>A (p.Ser1855=) c.4689T>A (p.Ser1563=) c.4458T>A (p.Ser1486=) | |
| 10 | g.94304594T>C | CA470808615 | PLCE1 | c.4647T>C (p.Ser1549=) c.*2114T>C (n.*2114T>C) n.2306T>C n.990T>C c.*855T>C (n.*855T>C) c.4599T>C (p.Ser1533=) n.9779T>C n.3244T>C c.5439T>C (p.Ser1813=) c.5523T>C (p.Ser1841=) c.5571T>C (p.Ser1857=) c.4545T>C (p.Ser1515=) c.4126T>C c.3687T>C (p.Ser1229=) c.*1504T>C (n.*1504T>C) c.4840T>C c.5613T>C (p.Ser1871=) c.5610T>C (p.Ser1870=) c.5565T>C (p.Ser1855=) c.4689T>C (p.Ser1563=) c.4458T>C (p.Ser1486=) | |
| 10 | g.94304594T>G | CA470808616 | PLCE1 | c.4647T>G (p.Ser1549=) c.*2114T>G (n.*2114T>G) n.2306T>G n.990T>G c.*855T>G (n.*855T>G) c.4599T>G (p.Ser1533=) n.9779T>G n.3244T>G c.5439T>G (p.Ser1813=) c.5523T>G (p.Ser1841=) c.5571T>G (p.Ser1857=) c.4545T>G (p.Ser1515=) c.4126T>G c.3687T>G (p.Ser1229=) c.*1504T>G (n.*1504T>G) c.4840T>G c.5613T>G (p.Ser1871=) c.5610T>G (p.Ser1870=) c.5565T>G (p.Ser1855=) c.4689T>G (p.Ser1563=) c.4458T>G (p.Ser1486=) | |
| 10 | g.94304595C>A | CA377643141 | PLCE1 | c.4648C>A (p.Pro1550Thr) c.*2115C>A (n.*2115C>A) n.2307C>A n.991C>A c.*856C>A (n.*856C>A) c.4600C>A (p.Pro1534Thr) n.9780C>A n.3245C>A c.5440C>A (p.Pro1814Thr) c.5524C>A (p.Pro1842Thr) c.5572C>A (p.Pro1858Thr) c.4546C>A (p.Pro1516Thr) c.4127C>A c.3688C>A (p.Pro1230Thr) c.*1505C>A (n.*1505C>A) c.4841C>A c.5614C>A (p.Pro1872Thr) c.5611C>A (p.Pro1871Thr) c.5566C>A (p.Pro1856Thr) c.4690C>A (p.Pro1564Thr) c.4459C>A (p.Pro1487Thr) | |
| 10 | g.94304595C= | CA1929000793 | PLCE1 | c.4648C= (p.Pro1550=) c.*2115C= (n.*2115C=) n.2307C= n.991C= c.*856C= (n.*856C=) c.4600C= (p.Pro1534=) n.9780C= n.3245C= c.5440C= (p.Pro1814=) c.5524C= (p.Pro1842=) c.5572C= (p.Pro1858=) c.4546C= (p.Pro1516=) c.4127C= c.3688C= (p.Pro1230=) c.*1505C= (n.*1505C=) c.4841C= c.5614C= (p.Pro1872=) c.5611C= (p.Pro1871=) c.5566C= (p.Pro1856=) c.4690C= (p.Pro1564=) c.4459C= (p.Pro1487=) | |
| 10 | g.94304595C>G | CA377643142 | PLCE1 | c.4648C>G (p.Pro1550Ala) c.*2115C>G (n.*2115C>G) n.2307C>G n.991C>G c.*856C>G (n.*856C>G) c.4600C>G (p.Pro1534Ala) n.9780C>G n.3245C>G c.5440C>G (p.Pro1814Ala) c.5524C>G (p.Pro1842Ala) c.5572C>G (p.Pro1858Ala) c.4546C>G (p.Pro1516Ala) c.4127C>G c.3688C>G (p.Pro1230Ala) c.*1505C>G (n.*1505C>G) c.4841C>G c.5614C>G (p.Pro1872Ala) c.5611C>G (p.Pro1871Ala) c.5566C>G (p.Pro1856Ala) c.4690C>G (p.Pro1564Ala) c.4459C>G (p.Pro1487Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94304595C>T | CA377643139 | PLCE1 | c.4648C>T (p.Pro1550Ser) c.*2115C>T (n.*2115C>T) n.2307C>T n.991C>T c.*856C>T (n.*856C>T) c.4600C>T (p.Pro1534Ser) n.9780C>T n.3245C>T c.5440C>T (p.Pro1814Ser) c.5524C>T (p.Pro1842Ser) c.5572C>T (p.Pro1858Ser) c.4546C>T (p.Pro1516Ser) c.4127C>T c.3688C>T (p.Pro1230Ser) c.*1505C>T (n.*1505C>T) c.4841C>T c.5614C>T (p.Pro1872Ser) c.5611C>T (p.Pro1871Ser) c.5566C>T (p.Pro1856Ser) c.4690C>T (p.Pro1564Ser) c.4459C>T (p.Pro1487Ser) | dbSNP gnomAD v4 |
| 10 | g.94304596C>A | CA377643144 | PLCE1 | c.4649C>A (p.Pro1550Gln) c.*2116C>A (n.*2116C>A) n.2308C>A n.992C>A c.*857C>A (n.*857C>A) c.4601C>A (p.Pro1534Gln) n.9781C>A n.3246C>A c.5441C>A (p.Pro1814Gln) c.5525C>A (p.Pro1842Gln) c.5573C>A (p.Pro1858Gln) c.4547C>A (p.Pro1516Gln) c.4128C>A c.3689C>A (p.Pro1230Gln) c.*1506C>A (n.*1506C>A) c.4842C>A c.5615C>A (p.Pro1872Gln) c.5612C>A (p.Pro1871Gln) c.5567C>A (p.Pro1856Gln) c.4691C>A (p.Pro1564Gln) c.4460C>A (p.Pro1487Gln) | |
| 10 | g.94304596C>G | CA377643146 | PLCE1 | c.4649C>G (p.Pro1550Arg) c.*2116C>G (n.*2116C>G) n.2308C>G n.992C>G c.*857C>G (n.*857C>G) c.4601C>G (p.Pro1534Arg) n.9781C>G n.3246C>G c.5441C>G (p.Pro1814Arg) c.5525C>G (p.Pro1842Arg) c.5573C>G (p.Pro1858Arg) c.4547C>G (p.Pro1516Arg) c.4128C>G c.3689C>G (p.Pro1230Arg) c.*1506C>G (n.*1506C>G) c.4842C>G c.5615C>G (p.Pro1872Arg) c.5612C>G (p.Pro1871Arg) c.5567C>G (p.Pro1856Arg) c.4691C>G (p.Pro1564Arg) c.4460C>G (p.Pro1487Arg) | |
| 10 | g.94304596C>T | CA377643148 | PLCE1 | c.4649C>T (p.Pro1550Leu) c.*2116C>T (n.*2116C>T) n.2308C>T n.992C>T c.*857C>T (n.*857C>T) c.4601C>T (p.Pro1534Leu) n.9781C>T n.3246C>T c.5441C>T (p.Pro1814Leu) c.5525C>T (p.Pro1842Leu) c.5573C>T (p.Pro1858Leu) c.4547C>T (p.Pro1516Leu) c.4128C>T c.3689C>T (p.Pro1230Leu) c.*1506C>T (n.*1506C>T) c.4842C>T c.5615C>T (p.Pro1872Leu) c.5612C>T (p.Pro1871Leu) c.5567C>T (p.Pro1856Leu) c.4691C>T (p.Pro1564Leu) c.4460C>T (p.Pro1487Leu) |