Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.94306584A=CA1929001572PLCE1c.4856A= (p.His1619=)
c.*2323A= (n.*2323A=)
n.2515A=
n.1199A=
c.*1064A= (n.*1064A=)
c.4808A= (p.His1603=)
n.9988A=
n.3453A=
c.5648A= (p.His1883=)
c.5732A= (p.His1911=)
c.5780A= (p.His1927=)
c.4754A= (p.His1585=)
c.4335A=
c.3896A= (p.His1299=)
c.*1713A= (n.*1713A=)
c.5049A=
c.5822A= (p.His1941=)
c.5819A= (p.His1940=)
c.5774A= (p.His1925=)
c.4898A= (p.His1633=)
c.4667A= (p.His1556=)
10g.94306584A>CCA377644033PLCE1c.4856A>C (p.His1619Pro)
c.*2323A>C (n.*2323A>C)
n.2515A>C
n.1199A>C
c.*1064A>C (n.*1064A>C)
c.4808A>C (p.His1603Pro)
n.9988A>C
n.3453A>C
c.5648A>C (p.His1883Pro)
c.5732A>C (p.His1911Pro)
c.5780A>C (p.His1927Pro)
c.4754A>C (p.His1585Pro)
c.4335A>C
c.3896A>C (p.His1299Pro)
c.*1713A>C (n.*1713A>C)
c.5049A>C
c.5822A>C (p.His1941Pro)
c.5819A>C (p.His1940Pro)
c.5774A>C (p.His1925Pro)
c.4898A>C (p.His1633Pro)
c.4667A>C (p.His1556Pro)
gnomAD v4
10g.94306584A>GCA5613420PLCE1c.4856A>G (p.His1619Arg)
c.*2323A>G (n.*2323A>G)
n.2515A>G
n.1199A>G
c.*1064A>G (n.*1064A>G)
c.4808A>G (p.His1603Arg)
n.9988A>G
n.3453A>G
c.5648A>G (p.His1883Arg)
c.5732A>G (p.His1911Arg)
c.5780A>G (p.His1927Arg)
c.4754A>G (p.His1585Arg)
c.4335A>G
c.3896A>G (p.His1299Arg)
c.*1713A>G (n.*1713A>G)
c.5049A>G
c.5822A>G (p.His1941Arg)
c.5819A>G (p.His1940Arg)
c.5774A>G (p.His1925Arg)
c.4898A>G (p.His1633Arg)
c.4667A>G (p.His1556Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94306584A>TCA377644034PLCE1c.4856A>T (p.His1619Leu)
c.*2323A>T (n.*2323A>T)
n.2515A>T
n.1199A>T
c.*1064A>T (n.*1064A>T)
c.4808A>T (p.His1603Leu)
n.9988A>T
n.3453A>T
c.5648A>T (p.His1883Leu)
c.5732A>T (p.His1911Leu)
c.5780A>T (p.His1927Leu)
c.4754A>T (p.His1585Leu)
c.4335A>T
c.3896A>T (p.His1299Leu)
c.*1713A>T (n.*1713A>T)
c.5049A>T
c.5822A>T (p.His1941Leu)
c.5819A>T (p.His1940Leu)
c.5774A>T (p.His1925Leu)
c.4898A>T (p.His1633Leu)
c.4667A>T (p.His1556Leu)
gnomAD v4
10g.94306585C>ACA377644035PLCE1c.4857C>A (p.His1619Gln)
c.*2324C>A (n.*2324C>A)
n.2516C>A
n.1200C>A
c.*1065C>A (n.*1065C>A)
c.4809C>A (p.His1603Gln)
n.9989C>A
n.3454C>A
c.5649C>A (p.His1883Gln)
c.5733C>A (p.His1911Gln)
c.5781C>A (p.His1927Gln)
c.4755C>A (p.His1585Gln)
c.4336C>A
c.3897C>A (p.His1299Gln)
c.*1714C>A (n.*1714C>A)
c.5050C>A
c.5823C>A (p.His1941Gln)
c.5820C>A (p.His1940Gln)
c.5775C>A (p.His1925Gln)
c.4899C>A (p.His1633Gln)
c.4668C>A (p.His1556Gln)
gnomAD v4
10g.94306585C=CA1929001573PLCE1c.4857C= (p.His1619=)
c.*2324C= (n.*2324C=)
n.2516C=
n.1200C=
c.*1065C= (n.*1065C=)
c.4809C= (p.His1603=)
n.9989C=
n.3454C=
c.5649C= (p.His1883=)
c.5733C= (p.His1911=)
c.5781C= (p.His1927=)
c.4755C= (p.His1585=)
c.4336C=
c.3897C= (p.His1299=)
c.*1714C= (n.*1714C=)
c.5050C=
c.5823C= (p.His1941=)
c.5820C= (p.His1940=)
c.5775C= (p.His1925=)
c.4899C= (p.His1633=)
c.4668C= (p.His1556=)
10g.94306585C>GCA5613422PLCE1c.4857C>G (p.His1619Gln)
c.*2324C>G (n.*2324C>G)
n.2516C>G
n.1200C>G
c.*1065C>G (n.*1065C>G)
c.4809C>G (p.His1603Gln)
n.9989C>G
n.3454C>G
c.5649C>G (p.His1883Gln)
c.5733C>G (p.His1911Gln)
c.5781C>G (p.His1927Gln)
c.4755C>G (p.His1585Gln)
c.4336C>G
c.3897C>G (p.His1299Gln)
c.*1714C>G (n.*1714C>G)
c.5050C>G
c.5823C>G (p.His1941Gln)
c.5820C>G (p.His1940Gln)
c.5775C>G (p.His1925Gln)
c.4899C>G (p.His1633Gln)
c.4668C>G (p.His1556Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94306585C>TCA5613421PLCE1c.4857C>T (p.His1619=)
c.*2324C>T (n.*2324C>T)
n.2516C>T
n.1200C>T
c.*1065C>T (n.*1065C>T)
c.4809C>T (p.His1603=)
n.9989C>T
n.3454C>T
c.5649C>T (p.His1883=)
c.5733C>T (p.His1911=)
c.5781C>T (p.His1927=)
c.4755C>T (p.His1585=)
c.4336C>T
c.3897C>T (p.His1299=)
c.*1714C>T (n.*1714C>T)
c.5050C>T
c.5823C>T (p.His1941=)
c.5820C>T (p.His1940=)
c.5775C>T (p.His1925=)
c.4899C>T (p.His1633=)
c.4668C>T (p.His1556=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94306586G>ACA5613423PLCE1c.4858G>A (p.Val1620Ile)
c.*2325G>A (n.*2325G>A)
n.2517G>A
n.1201G>A
c.*1066G>A (n.*1066G>A)
c.4810G>A (p.Val1604Ile)
n.9990G>A
n.3455G>A
c.5650G>A (p.Val1884Ile)
c.5734G>A (p.Val1912Ile)
c.5782G>A (p.Val1928Ile)
c.4756G>A (p.Val1586Ile)
c.4337G>A
c.3898G>A (p.Val1300Ile)
c.*1715G>A (n.*1715G>A)
c.5051G>A
c.5824G>A (p.Val1942Ile)
c.5821G>A (p.Val1941Ile)
c.5776G>A (p.Val1926Ile)
c.4900G>A (p.Val1634Ile)
c.4669G>A (p.Val1557Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.94306586G>CCA377644036PLCE1c.4858G>C (p.Val1620Leu)
c.*2325G>C (n.*2325G>C)
n.2517G>C
n.1201G>C
c.*1066G>C (n.*1066G>C)
c.4810G>C (p.Val1604Leu)
n.9990G>C
n.3455G>C
c.5650G>C (p.Val1884Leu)
c.5734G>C (p.Val1912Leu)
c.5782G>C (p.Val1928Leu)
c.4756G>C (p.Val1586Leu)
c.4337G>C
c.3898G>C (p.Val1300Leu)
c.*1715G>C (n.*1715G>C)
c.5051G>C
c.5824G>C (p.Val1942Leu)
c.5821G>C (p.Val1941Leu)
c.5776G>C (p.Val1926Leu)
c.4900G>C (p.Val1634Leu)
c.4669G>C (p.Val1557Leu)
10g.94306586G=CA1929001574PLCE1c.4858G= (p.Val1620=)
c.*2325G= (n.*2325G=)
n.2517G=
n.1201G=
c.*1066G= (n.*1066G=)
c.4810G= (p.Val1604=)
n.9990G=
n.3455G=
c.5650G= (p.Val1884=)
c.5734G= (p.Val1912=)
c.5782G= (p.Val1928=)
c.4756G= (p.Val1586=)
c.4337G=
c.3898G= (p.Val1300=)
c.*1715G= (n.*1715G=)
c.5051G=
c.5824G= (p.Val1942=)
c.5821G= (p.Val1941=)
c.5776G= (p.Val1926=)
c.4900G= (p.Val1634=)
c.4669G= (p.Val1557=)
10g.94306586G>TCA377644037PLCE1c.4858G>T (p.Val1620Phe)
c.*2325G>T (n.*2325G>T)
n.2517G>T
n.1201G>T
c.*1066G>T (n.*1066G>T)
c.4810G>T (p.Val1604Phe)
n.9990G>T
n.3455G>T
c.5650G>T (p.Val1884Phe)
c.5734G>T (p.Val1912Phe)
c.5782G>T (p.Val1928Phe)
c.4756G>T (p.Val1586Phe)
c.4337G>T
c.3898G>T (p.Val1300Phe)
c.*1715G>T (n.*1715G>T)
c.5051G>T
c.5824G>T (p.Val1942Phe)
c.5821G>T (p.Val1941Phe)
c.5776G>T (p.Val1926Phe)
c.4900G>T (p.Val1634Phe)
c.4669G>T (p.Val1557Phe)
10g.94306587T>ACA377644038PLCE1c.4859T>A (p.Val1620Asp)
c.*2326T>A (n.*2326T>A)
n.2518T>A
n.1202T>A
c.*1067T>A (n.*1067T>A)
c.4811T>A (p.Val1604Asp)
n.9991T>A
n.3456T>A
c.5651T>A (p.Val1884Asp)
c.5735T>A (p.Val1912Asp)
c.5783T>A (p.Val1928Asp)
c.4757T>A (p.Val1586Asp)
c.4338T>A
c.3899T>A (p.Val1300Asp)
c.*1716T>A (n.*1716T>A)
c.5052T>A
c.5825T>A (p.Val1942Asp)
c.5822T>A (p.Val1941Asp)
c.5777T>A (p.Val1926Asp)
c.4901T>A (p.Val1634Asp)
c.4670T>A (p.Val1557Asp)
10g.94306587T>CCA377644039PLCE1c.4859T>C (p.Val1620Ala)
c.*2326T>C (n.*2326T>C)
n.2518T>C
n.1202T>C
c.*1067T>C (n.*1067T>C)
c.4811T>C (p.Val1604Ala)
n.9991T>C
n.3456T>C
c.5651T>C (p.Val1884Ala)
c.5735T>C (p.Val1912Ala)
c.5783T>C (p.Val1928Ala)
c.4757T>C (p.Val1586Ala)
c.4338T>C
c.3899T>C (p.Val1300Ala)
c.*1716T>C (n.*1716T>C)
c.5052T>C
c.5825T>C (p.Val1942Ala)
c.5822T>C (p.Val1941Ala)
c.5777T>C (p.Val1926Ala)
c.4901T>C (p.Val1634Ala)
c.4670T>C (p.Val1557Ala)
10g.94306587T>GCA377644040PLCE1c.4859T>G (p.Val1620Gly)
c.*2326T>G (n.*2326T>G)
n.2518T>G
n.1202T>G
c.*1067T>G (n.*1067T>G)
c.4811T>G (p.Val1604Gly)
n.9991T>G
n.3456T>G
c.5651T>G (p.Val1884Gly)
c.5735T>G (p.Val1912Gly)
c.5783T>G (p.Val1928Gly)
c.4757T>G (p.Val1586Gly)
c.4338T>G
c.3899T>G (p.Val1300Gly)
c.*1716T>G (n.*1716T>G)
c.5052T>G
c.5825T>G (p.Val1942Gly)
c.5822T>G (p.Val1941Gly)
c.5777T>G (p.Val1926Gly)
c.4901T>G (p.Val1634Gly)
c.4670T>G (p.Val1557Gly)
10g.94306588T>ACA470809039PLCE1c.4860T>A (p.Val1620=)
c.*2327T>A (n.*2327T>A)
n.2519T>A
n.1203T>A
c.*1068T>A (n.*1068T>A)
c.4812T>A (p.Val1604=)
n.9992T>A
n.3457T>A
c.5652T>A (p.Val1884=)
c.5736T>A (p.Val1912=)
c.5784T>A (p.Val1928=)
c.4758T>A (p.Val1586=)
c.4339T>A
c.3900T>A (p.Val1300=)
c.*1717T>A (n.*1717T>A)
c.5053T>A
c.5826T>A (p.Val1942=)
c.5823T>A (p.Val1941=)
c.5778T>A (p.Val1926=)
c.4902T>A (p.Val1634=)
c.4671T>A (p.Val1557=)
gnomAD v4
10g.94306588T>CCA470809040PLCE1c.4860T>C (p.Val1620=)
c.*2327T>C (n.*2327T>C)
n.2519T>C
n.1203T>C
c.*1068T>C (n.*1068T>C)
c.4812T>C (p.Val1604=)
n.9992T>C
n.3457T>C
c.5652T>C (p.Val1884=)
c.5736T>C (p.Val1912=)
c.5784T>C (p.Val1928=)
c.4758T>C (p.Val1586=)
c.4339T>C
c.3900T>C (p.Val1300=)
c.*1717T>C (n.*1717T>C)
c.5053T>C
c.5826T>C (p.Val1942=)
c.5823T>C (p.Val1941=)
c.5778T>C (p.Val1926=)
c.4902T>C (p.Val1634=)
c.4671T>C (p.Val1557=)
10g.94306588T>GCA470809041PLCE1c.4860T>G (p.Val1620=)
c.*2327T>G (n.*2327T>G)
n.2519T>G
n.1203T>G
c.*1068T>G (n.*1068T>G)
c.4812T>G (p.Val1604=)
n.9992T>G
n.3457T>G
c.5652T>G (p.Val1884=)
c.5736T>G (p.Val1912=)
c.5784T>G (p.Val1928=)
c.4758T>G (p.Val1586=)
c.4339T>G
c.3900T>G (p.Val1300=)
c.*1717T>G (n.*1717T>G)
c.5053T>G
c.5826T>G (p.Val1942=)
c.5823T>G (p.Val1941=)
c.5778T>G (p.Val1926=)
c.4902T>G (p.Val1634=)
c.4671T>G (p.Val1557=)
10g.94306589C>ACA377644041PLCE1c.4861C>A (p.His1621Asn)
c.*2328C>A (n.*2328C>A)
n.2520C>A
n.1204C>A
c.*1069C>A (n.*1069C>A)
c.4813C>A (p.His1605Asn)
n.9993C>A
n.3458C>A
c.5653C>A (p.His1885Asn)
c.5737C>A (p.His1913Asn)
c.5785C>A (p.His1929Asn)
c.4759C>A (p.His1587Asn)
c.4340C>A
c.3901C>A (p.His1301Asn)
c.*1718C>A (n.*1718C>A)
c.5054C>A
c.5827C>A (p.His1943Asn)
c.5824C>A (p.His1942Asn)
c.5779C>A (p.His1927Asn)
c.4903C>A (p.His1635Asn)
c.4672C>A (p.His1558Asn)
10g.94306589C>GCA377644042PLCE1c.4861C>G (p.His1621Asp)
c.*2328C>G (n.*2328C>G)
n.2520C>G
n.1204C>G
c.*1069C>G (n.*1069C>G)
c.4813C>G (p.His1605Asp)
n.9993C>G
n.3458C>G
c.5653C>G (p.His1885Asp)
c.5737C>G (p.His1913Asp)
c.5785C>G (p.His1929Asp)
c.4759C>G (p.His1587Asp)
c.4340C>G
c.3901C>G (p.His1301Asp)
c.*1718C>G (n.*1718C>G)
c.5054C>G
c.5827C>G (p.His1943Asp)
c.5824C>G (p.His1942Asp)
c.5779C>G (p.His1927Asp)
c.4903C>G (p.His1635Asp)
c.4672C>G (p.His1558Asp)
10g.94306589C>TCA377644043PLCE1c.4861C>T (p.His1621Tyr)
c.*2328C>T (n.*2328C>T)
n.2520C>T
n.1204C>T
c.*1069C>T (n.*1069C>T)
c.4813C>T (p.His1605Tyr)
n.9993C>T
n.3458C>T
c.5653C>T (p.His1885Tyr)
c.5737C>T (p.His1913Tyr)
c.5785C>T (p.His1929Tyr)
c.4759C>T (p.His1587Tyr)
c.4340C>T
c.3901C>T (p.His1301Tyr)
c.*1718C>T (n.*1718C>T)
c.5054C>T
c.5827C>T (p.His1943Tyr)
c.5824C>T (p.His1942Tyr)
c.5779C>T (p.His1927Tyr)
c.4903C>T (p.His1635Tyr)
c.4672C>T (p.His1558Tyr)
10g.94306590A=CA1929001575PLCE1c.4862A= (p.His1621=)
c.*2329A= (n.*2329A=)
n.2521A=
n.1205A=
c.*1070A= (n.*1070A=)
c.4814A= (p.His1605=)
n.9994A=
n.3459A=
c.5654A= (p.His1885=)
c.5738A= (p.His1913=)
c.5786A= (p.His1929=)
c.4760A= (p.His1587=)
c.4341A=
c.3902A= (p.His1301=)
c.*1719A= (n.*1719A=)
c.5055A=
c.5828A= (p.His1943=)
c.5825A= (p.His1942=)
c.5780A= (p.His1927=)
c.4904A= (p.His1635=)
c.4673A= (p.His1558=)
10g.94306590A>CCA377644044PLCE1c.4862A>C (p.His1621Pro)
c.*2329A>C (n.*2329A>C)
n.2521A>C
n.1205A>C
c.*1070A>C (n.*1070A>C)
c.4814A>C (p.His1605Pro)
n.9994A>C
n.3459A>C
c.5654A>C (p.His1885Pro)
c.5738A>C (p.His1913Pro)
c.5786A>C (p.His1929Pro)
c.4760A>C (p.His1587Pro)
c.4341A>C
c.3902A>C (p.His1301Pro)
c.*1719A>C (n.*1719A>C)
c.5055A>C
c.5828A>C (p.His1943Pro)
c.5825A>C (p.His1942Pro)
c.5780A>C (p.His1927Pro)
c.4904A>C (p.His1635Pro)
c.4673A>C (p.His1558Pro)
10g.94306590A>GCA211605590PLCE1c.4862A>G (p.His1621Arg)
c.*2329A>G (n.*2329A>G)
n.2521A>G
n.1205A>G
c.*1070A>G (n.*1070A>G)
c.4814A>G (p.His1605Arg)
n.9994A>G
n.3459A>G
c.5654A>G (p.His1885Arg)
c.5738A>G (p.His1913Arg)
c.5786A>G (p.His1929Arg)
c.4760A>G (p.His1587Arg)
c.4341A>G
c.3902A>G (p.His1301Arg)
c.*1719A>G (n.*1719A>G)
c.5055A>G
c.5828A>G (p.His1943Arg)
c.5825A>G (p.His1942Arg)
c.5780A>G (p.His1927Arg)
c.4904A>G (p.His1635Arg)
c.4673A>G (p.His1558Arg)
dbSNP
10g.94306590A>TCA377644045PLCE1c.4862A>T (p.His1621Leu)
c.*2329A>T (n.*2329A>T)
n.2521A>T
n.1205A>T
c.*1070A>T (n.*1070A>T)
c.4814A>T (p.His1605Leu)
n.9994A>T
n.3459A>T
c.5654A>T (p.His1885Leu)
c.5738A>T (p.His1913Leu)
c.5786A>T (p.His1929Leu)
c.4760A>T (p.His1587Leu)
c.4341A>T
c.3902A>T (p.His1301Leu)
c.*1719A>T (n.*1719A>T)
c.5055A>T
c.5828A>T (p.His1943Leu)
c.5825A>T (p.His1942Leu)
c.5780A>T (p.His1927Leu)
c.4904A>T (p.His1635Leu)
c.4673A>T (p.His1558Leu)
10g.94306591C>ACA377644046PLCE1c.4863C>A (p.His1621Gln)
c.*2330C>A (n.*2330C>A)
n.2522C>A
n.1206C>A
c.*1071C>A (n.*1071C>A)
c.4815C>A (p.His1605Gln)
n.9995C>A
n.3460C>A
c.5655C>A (p.His1885Gln)
c.5739C>A (p.His1913Gln)
c.5787C>A (p.His1929Gln)
c.4761C>A (p.His1587Gln)
c.4342C>A
c.3903C>A (p.His1301Gln)
c.*1720C>A (n.*1720C>A)
c.5056C>A
c.5829C>A (p.His1943Gln)
c.5826C>A (p.His1942Gln)
c.5781C>A (p.His1927Gln)
c.4905C>A (p.His1635Gln)
c.4674C>A (p.His1558Gln)
10g.94306591C>GCA377644047PLCE1c.4863C>G (p.His1621Gln)
c.*2330C>G (n.*2330C>G)
n.2522C>G
n.1206C>G
c.*1071C>G (n.*1071C>G)
c.4815C>G (p.His1605Gln)
n.9995C>G
n.3460C>G
c.5655C>G (p.His1885Gln)
c.5739C>G (p.His1913Gln)
c.5787C>G (p.His1929Gln)
c.4761C>G (p.His1587Gln)
c.4342C>G
c.3903C>G (p.His1301Gln)
c.*1720C>G (n.*1720C>G)
c.5056C>G
c.5829C>G (p.His1943Gln)
c.5826C>G (p.His1942Gln)
c.5781C>G (p.His1927Gln)
c.4905C>G (p.His1635Gln)
c.4674C>G (p.His1558Gln)
10g.94306591C>TCA470809043PLCE1c.4863C>T (p.His1621=)
c.*2330C>T (n.*2330C>T)
n.2522C>T
n.1206C>T
c.*1071C>T (n.*1071C>T)
c.4815C>T (p.His1605=)
n.9995C>T
n.3460C>T
c.5655C>T (p.His1885=)
c.5739C>T (p.His1913=)
c.5787C>T (p.His1929=)
c.4761C>T (p.His1587=)
c.4342C>T
c.3903C>T (p.His1301=)
c.*1720C>T (n.*1720C>T)
c.5056C>T
c.5829C>T (p.His1943=)
c.5826C>T (p.His1942=)
c.5781C>T (p.His1927=)
c.4905C>T (p.His1635=)
c.4674C>T (p.His1558=)
gnomAD v4
10g.94306592T>ACA377644048PLCE1c.4864T>A (p.Phe1622Ile)
c.*2331T>A (n.*2331T>A)
n.2523T>A
n.1207T>A
c.*1072T>A (n.*1072T>A)
c.4816T>A (p.Phe1606Ile)
n.9996T>A
n.3461T>A
c.5656T>A (p.Phe1886Ile)
c.5740T>A (p.Phe1914Ile)
c.5788T>A (p.Phe1930Ile)
c.4762T>A (p.Phe1588Ile)
c.4343T>A
c.3904T>A (p.Phe1302Ile)
c.*1721T>A (n.*1721T>A)
c.5057T>A
c.5830T>A (p.Phe1944Ile)
c.5827T>A (p.Phe1943Ile)
c.5782T>A (p.Phe1928Ile)
c.4906T>A (p.Phe1636Ile)
c.4675T>A (p.Phe1559Ile)
10g.94306592T>CCA377644050PLCE1c.4864T>C (p.Phe1622Leu)
c.*2331T>C (n.*2331T>C)
n.2523T>C
n.1207T>C
c.*1072T>C (n.*1072T>C)
c.4816T>C (p.Phe1606Leu)
n.9996T>C
n.3461T>C
c.5656T>C (p.Phe1886Leu)
c.5740T>C (p.Phe1914Leu)
c.5788T>C (p.Phe1930Leu)
c.4762T>C (p.Phe1588Leu)
c.4343T>C
c.3904T>C (p.Phe1302Leu)
c.*1721T>C (n.*1721T>C)
c.5057T>C
c.5830T>C (p.Phe1944Leu)
c.5827T>C (p.Phe1943Leu)
c.5782T>C (p.Phe1928Leu)
c.4906T>C (p.Phe1636Leu)
c.4675T>C (p.Phe1559Leu)
10g.94306592T>GCA377644049PLCE1c.4864T>G (p.Phe1622Val)
c.*2331T>G (n.*2331T>G)
n.2523T>G
n.1207T>G
c.*1072T>G (n.*1072T>G)
c.4816T>G (p.Phe1606Val)
n.9996T>G
n.3461T>G
c.5656T>G (p.Phe1886Val)
c.5740T>G (p.Phe1914Val)
c.5788T>G (p.Phe1930Val)
c.4762T>G (p.Phe1588Val)
c.4343T>G
c.3904T>G (p.Phe1302Val)
c.*1721T>G (n.*1721T>G)
c.5057T>G
c.5830T>G (p.Phe1944Val)
c.5827T>G (p.Phe1943Val)
c.5782T>G (p.Phe1928Val)
c.4906T>G (p.Phe1636Val)
c.4675T>G (p.Phe1559Val)
gnomAD v4
10g.94306593T>ACA377644051PLCE1c.4865T>A (p.Phe1622Tyr)
c.*2332T>A (n.*2332T>A)
n.2524T>A
n.1208T>A
c.*1073T>A (n.*1073T>A)
c.4817T>A (p.Phe1606Tyr)
n.9997T>A
n.3462T>A
c.5657T>A (p.Phe1886Tyr)
c.5741T>A (p.Phe1914Tyr)
c.5789T>A (p.Phe1930Tyr)
c.4763T>A (p.Phe1588Tyr)
c.4344T>A
c.3905T>A (p.Phe1302Tyr)
c.*1722T>A (n.*1722T>A)
c.5058T>A
c.5831T>A (p.Phe1944Tyr)
c.5828T>A (p.Phe1943Tyr)
c.5783T>A (p.Phe1928Tyr)
c.4907T>A (p.Phe1636Tyr)
c.4676T>A (p.Phe1559Tyr)
10g.94306593T>CCA377644053PLCE1c.4865T>C (p.Phe1622Ser)
c.*2332T>C (n.*2332T>C)
n.2524T>C
n.1208T>C
c.*1073T>C (n.*1073T>C)
c.4817T>C (p.Phe1606Ser)
n.9997T>C
n.3462T>C
c.5657T>C (p.Phe1886Ser)
c.5741T>C (p.Phe1914Ser)
c.5789T>C (p.Phe1930Ser)
c.4763T>C (p.Phe1588Ser)
c.4344T>C
c.3905T>C (p.Phe1302Ser)
c.*1722T>C (n.*1722T>C)
c.5058T>C
c.5831T>C (p.Phe1944Ser)
c.5828T>C (p.Phe1943Ser)
c.5783T>C (p.Phe1928Ser)
c.4907T>C (p.Phe1636Ser)
c.4676T>C (p.Phe1559Ser)
10g.94306593T>GCA377644052PLCE1c.4865T>G (p.Phe1622Cys)
c.*2332T>G (n.*2332T>G)
n.2524T>G
n.1208T>G
c.*1073T>G (n.*1073T>G)
c.4817T>G (p.Phe1606Cys)
n.9997T>G
n.3462T>G
c.5657T>G (p.Phe1886Cys)
c.5741T>G (p.Phe1914Cys)
c.5789T>G (p.Phe1930Cys)
c.4763T>G (p.Phe1588Cys)
c.4344T>G
c.3905T>G (p.Phe1302Cys)
c.*1722T>G (n.*1722T>G)
c.5058T>G
c.5831T>G (p.Phe1944Cys)
c.5828T>G (p.Phe1943Cys)
c.5783T>G (p.Phe1928Cys)
c.4907T>G (p.Phe1636Cys)
c.4676T>G (p.Phe1559Cys)
10g.94306594C>ACA377644054PLCE1c.4866C>A (p.Phe1622Leu)
c.*2333C>A (n.*2333C>A)
n.2525C>A
n.1209C>A
c.*1074C>A (n.*1074C>A)
c.4818C>A (p.Phe1606Leu)
n.9998C>A
n.3463C>A
c.5658C>A (p.Phe1886Leu)
c.5742C>A (p.Phe1914Leu)
c.5790C>A (p.Phe1930Leu)
c.4764C>A (p.Phe1588Leu)
c.4345C>A
c.3906C>A (p.Phe1302Leu)
c.*1723C>A (n.*1723C>A)
c.5059C>A
c.5832C>A (p.Phe1944Leu)
c.5829C>A (p.Phe1943Leu)
c.5784C>A (p.Phe1928Leu)
c.4908C>A (p.Phe1636Leu)
c.4677C>A (p.Phe1559Leu)
gnomAD v4
10g.94306594C=CA1929001576PLCE1c.4866C= (p.Phe1622=)
c.*2333C= (n.*2333C=)
n.2525C=
n.1209C=
c.*1074C= (n.*1074C=)
c.4818C= (p.Phe1606=)
n.9998C=
n.3463C=
c.5658C= (p.Phe1886=)
c.5742C= (p.Phe1914=)
c.5790C= (p.Phe1930=)
c.4764C= (p.Phe1588=)
c.4345C=
c.3906C= (p.Phe1302=)
c.*1723C= (n.*1723C=)
c.5059C=
c.5832C= (p.Phe1944=)
c.5829C= (p.Phe1943=)
c.5784C= (p.Phe1928=)
c.4908C= (p.Phe1636=)
c.4677C= (p.Phe1559=)
10g.94306594C>GCA377644055PLCE1c.4866C>G (p.Phe1622Leu)
c.*2333C>G (n.*2333C>G)
n.2525C>G
n.1209C>G
c.*1074C>G (n.*1074C>G)
c.4818C>G (p.Phe1606Leu)
n.9998C>G
n.3463C>G
c.5658C>G (p.Phe1886Leu)
c.5742C>G (p.Phe1914Leu)
c.5790C>G (p.Phe1930Leu)
c.4764C>G (p.Phe1588Leu)
c.4345C>G
c.3906C>G (p.Phe1302Leu)
c.*1723C>G (n.*1723C>G)
c.5059C>G
c.5832C>G (p.Phe1944Leu)
c.5829C>G (p.Phe1943Leu)
c.5784C>G (p.Phe1928Leu)
c.4908C>G (p.Phe1636Leu)
c.4677C>G (p.Phe1559Leu)
10g.94306594C>TCA211605594PLCE1c.4866C>T (p.Phe1622=)
c.*2333C>T (n.*2333C>T)
n.2525C>T
n.1209C>T
c.*1074C>T (n.*1074C>T)
c.4818C>T (p.Phe1606=)
n.9998C>T
n.3463C>T
c.5658C>T (p.Phe1886=)
c.5742C>T (p.Phe1914=)
c.5790C>T (p.Phe1930=)
c.4764C>T (p.Phe1588=)
c.4345C>T
c.3906C>T (p.Phe1302=)
c.*1723C>T (n.*1723C>T)
c.5059C>T
c.5832C>T (p.Phe1944=)
c.5829C>T (p.Phe1943=)
c.5784C>T (p.Phe1928=)
c.4908C>T (p.Phe1636=)
c.4677C>T (p.Phe1559=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
10g.94306595G>ACA5613424PLCE1c.4867G>A (p.Glu1623Lys)
c.*2334G>A (n.*2334G>A)
n.2526G>A
n.1210G>A
c.*1075G>A (n.*1075G>A)
c.4819G>A (p.Glu1607Lys)
n.9999G>A
n.3464G>A
c.5659G>A (p.Glu1887Lys)
c.5743G>A (p.Glu1915Lys)
c.5791G>A (p.Glu1931Lys)
c.4765G>A (p.Glu1589Lys)
c.4346G>A
c.3907G>A (p.Glu1303Lys)
c.*1724G>A (n.*1724G>A)
c.5060G>A
c.5833G>A (p.Glu1945Lys)
c.5830G>A (p.Glu1944Lys)
c.5785G>A (p.Glu1929Lys)
c.4909G>A (p.Glu1637Lys)
c.4678G>A (p.Glu1560Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94306595G>CCA377644056PLCE1c.4867G>C (p.Glu1623Gln)
c.*2334G>C (n.*2334G>C)
n.2526G>C
n.1210G>C
c.*1075G>C (n.*1075G>C)
c.4819G>C (p.Glu1607Gln)
n.9999G>C
n.3464G>C
c.5659G>C (p.Glu1887Gln)
c.5743G>C (p.Glu1915Gln)
c.5791G>C (p.Glu1931Gln)
c.4765G>C (p.Glu1589Gln)
c.4346G>C
c.3907G>C (p.Glu1303Gln)
c.*1724G>C (n.*1724G>C)
c.5060G>C
c.5833G>C (p.Glu1945Gln)
c.5830G>C (p.Glu1944Gln)
c.5785G>C (p.Glu1929Gln)
c.4909G>C (p.Glu1637Gln)
c.4678G>C (p.Glu1560Gln)
10g.94306595G=CA1929001577PLCE1c.4867G= (p.Glu1623=)
c.*2334G= (n.*2334G=)
n.2526G=
n.1210G=
c.*1075G= (n.*1075G=)
c.4819G= (p.Glu1607=)
n.9999G=
n.3464G=
c.5659G= (p.Glu1887=)
c.5743G= (p.Glu1915=)
c.5791G= (p.Glu1931=)
c.4765G= (p.Glu1589=)
c.4346G=
c.3907G= (p.Glu1303=)
c.*1724G= (n.*1724G=)
c.5060G=
c.5833G= (p.Glu1945=)
c.5830G= (p.Glu1944=)
c.5785G= (p.Glu1929=)
c.4909G= (p.Glu1637=)
c.4678G= (p.Glu1560=)
10g.94306595G>TCA377644057PLCE1c.4867G>T (p.Glu1623Ter)
c.*2334G>T (n.*2334G>T)
n.2526G>T
n.1210G>T
c.*1075G>T (n.*1075G>T)
c.4819G>T (p.Glu1607Ter)
n.9999G>T
n.3464G>T
c.5659G>T (p.Glu1887Ter)
c.5743G>T (p.Glu1915Ter)
c.5791G>T (p.Glu1931Ter)
c.4765G>T (p.Glu1589Ter)
c.4346G>T
c.3907G>T (p.Glu1303Ter)
c.*1724G>T (n.*1724G>T)
c.5060G>T
c.5833G>T (p.Glu1945Ter)
c.5830G>T (p.Glu1944Ter)
c.5785G>T (p.Glu1929Ter)
c.4909G>T (p.Glu1637Ter)
c.4678G>T (p.Glu1560Ter)
10g.94306596A>CCA377644060PLCE1c.4868A>C (p.Glu1623Ala)
c.*2335A>C (n.*2335A>C)
n.2527A>C
n.1211A>C
c.*1076A>C (n.*1076A>C)
c.4820A>C (p.Glu1607Ala)
n.10000A>C
n.3465A>C
c.5660A>C (p.Glu1887Ala)
c.5744A>C (p.Glu1915Ala)
c.5792A>C (p.Glu1931Ala)
c.4766A>C (p.Glu1589Ala)
c.4347A>C
c.3908A>C (p.Glu1303Ala)
c.*1725A>C (n.*1725A>C)
c.5061A>C
c.5834A>C (p.Glu1945Ala)
c.5831A>C (p.Glu1944Ala)
c.5786A>C (p.Glu1929Ala)
c.4910A>C (p.Glu1637Ala)
c.4679A>C (p.Glu1560Ala)
10g.94306596A>GCA377644061PLCE1c.4868A>G (p.Glu1623Gly)
c.*2335A>G (n.*2335A>G)
n.2527A>G
n.1211A>G
c.*1076A>G (n.*1076A>G)
c.4820A>G (p.Glu1607Gly)
n.10000A>G
n.3465A>G
c.5660A>G (p.Glu1887Gly)
c.5744A>G (p.Glu1915Gly)
c.5792A>G (p.Glu1931Gly)
c.4766A>G (p.Glu1589Gly)
c.4347A>G
c.3908A>G (p.Glu1303Gly)
c.*1725A>G (n.*1725A>G)
c.5061A>G
c.5834A>G (p.Glu1945Gly)
c.5831A>G (p.Glu1944Gly)
c.5786A>G (p.Glu1929Gly)
c.4910A>G (p.Glu1637Gly)
c.4679A>G (p.Glu1560Gly)
10g.94306596A>TCA377644063PLCE1c.4868A>T (p.Glu1623Val)
c.*2335A>T (n.*2335A>T)
n.2527A>T
n.1211A>T
c.*1076A>T (n.*1076A>T)
c.4820A>T (p.Glu1607Val)
n.10000A>T
n.3465A>T
c.5660A>T (p.Glu1887Val)
c.5744A>T (p.Glu1915Val)
c.5792A>T (p.Glu1931Val)
c.4766A>T (p.Glu1589Val)
c.4347A>T
c.3908A>T (p.Glu1303Val)
c.*1725A>T (n.*1725A>T)
c.5061A>T
c.5834A>T (p.Glu1945Val)
c.5831A>T (p.Glu1944Val)
c.5786A>T (p.Glu1929Val)
c.4910A>T (p.Glu1637Val)
c.4679A>T (p.Glu1560Val)
10g.94306597A>CCA377644065PLCE1c.4869A>C (p.Glu1623Asp)
c.*2336A>C (n.*2336A>C)
n.2528A>C
n.1212A>C
c.*1077A>C (n.*1077A>C)
c.4821A>C (p.Glu1607Asp)
n.10001A>C
n.3466A>C
c.5661A>C (p.Glu1887Asp)
c.5745A>C (p.Glu1915Asp)
c.5793A>C (p.Glu1931Asp)
c.4767A>C (p.Glu1589Asp)
c.4348A>C
c.3909A>C (p.Glu1303Asp)
c.*1726A>C (n.*1726A>C)
c.5062A>C
c.5835A>C (p.Glu1945Asp)
c.5832A>C (p.Glu1944Asp)
c.5787A>C (p.Glu1929Asp)
c.4911A>C (p.Glu1637Asp)
c.4680A>C (p.Glu1560Asp)
10g.94306597A>GCA470809047PLCE1c.4869A>G (p.Glu1623=)
c.*2336A>G (n.*2336A>G)
n.2528A>G
n.1212A>G
c.*1077A>G (n.*1077A>G)
c.4821A>G (p.Glu1607=)
n.10001A>G
n.3466A>G
c.5661A>G (p.Glu1887=)
c.5745A>G (p.Glu1915=)
c.5793A>G (p.Glu1931=)
c.4767A>G (p.Glu1589=)
c.4348A>G
c.3909A>G (p.Glu1303=)
c.*1726A>G (n.*1726A>G)
c.5062A>G
c.5835A>G (p.Glu1945=)
c.5832A>G (p.Glu1944=)
c.5787A>G (p.Glu1929=)
c.4911A>G (p.Glu1637=)
c.4680A>G (p.Glu1560=)
10g.94306597A>TCA377644067PLCE1c.4869A>T (p.Glu1623Asp)
c.*2336A>T (n.*2336A>T)
n.2528A>T
n.1212A>T
c.*1077A>T (n.*1077A>T)
c.4821A>T (p.Glu1607Asp)
n.10001A>T
n.3466A>T
c.5661A>T (p.Glu1887Asp)
c.5745A>T (p.Glu1915Asp)
c.5793A>T (p.Glu1931Asp)
c.4767A>T (p.Glu1589Asp)
c.4348A>T
c.3909A>T (p.Glu1303Asp)
c.*1726A>T (n.*1726A>T)
c.5062A>T
c.5835A>T (p.Glu1945Asp)
c.5832A>T (p.Glu1944Asp)
c.5787A>T (p.Glu1929Asp)
c.4911A>T (p.Glu1637Asp)
c.4680A>T (p.Glu1560Asp)
10g.94306598G>ACA377644072PLCE1c.4870G>A (p.Asp1624Asn)
c.*2337G>A (n.*2337G>A)
n.2529G>A
n.1213G>A
c.*1078G>A (n.*1078G>A)
c.4822G>A (p.Asp1608Asn)
n.10002G>A
n.3467G>A
c.5662G>A (p.Asp1888Asn)
c.5746G>A (p.Asp1916Asn)
c.5794G>A (p.Asp1932Asn)
c.4768G>A (p.Asp1590Asn)
c.4349G>A
c.3910G>A (p.Asp1304Asn)
c.*1727G>A (n.*1727G>A)
c.5063G>A
c.5836G>A (p.Asp1946Asn)
c.5833G>A (p.Asp1945Asn)
c.5788G>A (p.Asp1930Asn)
c.4912G>A (p.Asp1638Asn)
c.4681G>A (p.Asp1561Asn)
dbSNP gnomAD v2 gnomAD v4
10g.94306598G>CCA377644070PLCE1c.4870G>C (p.Asp1624His)
c.*2337G>C (n.*2337G>C)
n.2529G>C
n.1213G>C
c.*1078G>C (n.*1078G>C)
c.4822G>C (p.Asp1608His)
n.10002G>C
n.3467G>C
c.5662G>C (p.Asp1888His)
c.5746G>C (p.Asp1916His)
c.5794G>C (p.Asp1932His)
c.4768G>C (p.Asp1590His)
c.4349G>C
c.3910G>C (p.Asp1304His)
c.*1727G>C (n.*1727G>C)
c.5063G>C
c.5836G>C (p.Asp1946His)
c.5833G>C (p.Asp1945His)
c.5788G>C (p.Asp1930His)
c.4912G>C (p.Asp1638His)
c.4681G>C (p.Asp1561His)

Number of alleles fetched