Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.94306584A= | CA1929001572 | PLCE1 | c.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=) | |
10 | g.94306584A>C | CA377644033 | PLCE1 | c.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 |
10 | g.94306584A>G | CA5613420 | PLCE1 | c.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 |
10 | g.94306584A>T | CA377644034 | PLCE1 | c.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 |
10 | g.94306585C>A | CA377644035 | PLCE1 | c.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 |
10 | g.94306585C= | CA1929001573 | PLCE1 | c.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=) | |
10 | g.94306585C>G | CA5613422 | PLCE1 | c.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 |
10 | g.94306585C>T | CA5613421 | PLCE1 | c.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 |
10 | g.94306586G>A | CA5613423 | PLCE1 | c.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 |
10 | g.94306586G>C | CA377644036 | PLCE1 | c.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) | |
10 | g.94306586G= | CA1929001574 | PLCE1 | c.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=) | |
10 | g.94306586G>T | CA377644037 | PLCE1 | c.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) | |
10 | g.94306587T>A | CA377644038 | PLCE1 | c.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) | |
10 | g.94306587T>C | CA377644039 | PLCE1 | c.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) | |
10 | g.94306587T>G | CA377644040 | PLCE1 | c.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) | |
10 | g.94306588T>A | CA470809039 | PLCE1 | c.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 |
10 | g.94306588T>C | CA470809040 | PLCE1 | c.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=) | |
10 | g.94306588T>G | CA470809041 | PLCE1 | c.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=) | |
10 | g.94306589C>A | CA377644041 | PLCE1 | c.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) | |
10 | g.94306589C>G | CA377644042 | PLCE1 | c.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) | |
10 | g.94306589C>T | CA377644043 | PLCE1 | c.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) | |
10 | g.94306590A= | CA1929001575 | PLCE1 | c.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=) | |
10 | g.94306590A>C | CA377644044 | PLCE1 | c.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) | |
10 | g.94306590A>G | CA211605590 | PLCE1 | c.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 |
10 | g.94306590A>T | CA377644045 | PLCE1 | c.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) | |
10 | g.94306591C>A | CA377644046 | PLCE1 | c.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) | |
10 | g.94306591C>G | CA377644047 | PLCE1 | c.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) | |
10 | g.94306591C>T | CA470809043 | PLCE1 | c.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 |
10 | g.94306592T>A | CA377644048 | PLCE1 | c.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) | |
10 | g.94306592T>C | CA377644050 | PLCE1 | c.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) | |
10 | g.94306592T>G | CA377644049 | PLCE1 | c.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 |
10 | g.94306593T>A | CA377644051 | PLCE1 | c.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) | |
10 | g.94306593T>C | CA377644053 | PLCE1 | c.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) | |
10 | g.94306593T>G | CA377644052 | PLCE1 | c.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) | |
10 | g.94306594C>A | CA377644054 | PLCE1 | c.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 |
10 | g.94306594C= | CA1929001576 | PLCE1 | c.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=) | |
10 | g.94306594C>G | CA377644055 | PLCE1 | c.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) | |
10 | g.94306594C>T | CA211605594 | PLCE1 | c.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 |
10 | g.94306595G>A | CA5613424 | PLCE1 | c.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 |
10 | g.94306595G>C | CA377644056 | PLCE1 | c.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) | |
10 | g.94306595G= | CA1929001577 | PLCE1 | c.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=) | |
10 | g.94306595G>T | CA377644057 | PLCE1 | c.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) | |
10 | g.94306596A>C | CA377644060 | PLCE1 | c.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) | |
10 | g.94306596A>G | CA377644061 | PLCE1 | c.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) | |
10 | g.94306596A>T | CA377644063 | PLCE1 | c.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) | |
10 | g.94306597A>C | CA377644065 | PLCE1 | c.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) | |
10 | g.94306597A>G | CA470809047 | PLCE1 | c.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=) | |
10 | g.94306597A>T | CA377644067 | PLCE1 | c.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) | |
10 | g.94306598G>A | CA377644072 | PLCE1 | c.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 |
10 | g.94306598G>C | CA377644070 | PLCE1 | c.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) |