Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.94298564C>A | CA377642045 | PLCE1 | c.4429C>A (p.Leu1477Met) c.*1896C>A (n.*1896C>A) n.2088C>A n.772C>A c.*637C>A (n.*637C>A) c.4381C>A (p.Leu1461Met) n.9561C>A n.3026C>A c.5221C>A (p.Leu1741Met) c.5305C>A (p.Leu1769Met) c.5353C>A (p.Leu1785Met) c.4327C>A (p.Leu1443Met) c.3908C>A c.3469C>A (p.Leu1157Met) c.*1286C>A (n.*1286C>A) c.4622C>A c.5395C>A (p.Leu1799Met) c.5392C>A (p.Leu1798Met) c.5347C>A (p.Leu1783Met) c.4471C>A (p.Leu1491Met) c.4240C>A (p.Leu1414Met) | |
10 | g.94298564C>G | CA377642046 | PLCE1 | c.4429C>G (p.Leu1477Val) c.*1896C>G (n.*1896C>G) n.2088C>G n.772C>G c.*637C>G (n.*637C>G) c.4381C>G (p.Leu1461Val) n.9561C>G n.3026C>G c.5221C>G (p.Leu1741Val) c.5305C>G (p.Leu1769Val) c.5353C>G (p.Leu1785Val) c.4327C>G (p.Leu1443Val) c.3908C>G c.3469C>G (p.Leu1157Val) c.*1286C>G (n.*1286C>G) c.4622C>G c.5395C>G (p.Leu1799Val) c.5392C>G (p.Leu1798Val) c.5347C>G (p.Leu1783Val) c.4471C>G (p.Leu1491Val) c.4240C>G (p.Leu1414Val) | |
10 | g.94298564C>T | CA470986574 | PLCE1 | c.4429C>T (p.Leu1477=) c.*1896C>T (n.*1896C>T) n.2088C>T n.772C>T c.*637C>T (n.*637C>T) c.4381C>T (p.Leu1461=) n.9561C>T n.3026C>T c.5221C>T (p.Leu1741=) c.5305C>T (p.Leu1769=) c.5353C>T (p.Leu1785=) c.4327C>T (p.Leu1443=) c.3908C>T c.3469C>T (p.Leu1157=) c.*1286C>T (n.*1286C>T) c.4622C>T c.5395C>T (p.Leu1799=) c.5392C>T (p.Leu1798=) c.5347C>T (p.Leu1783=) c.4471C>T (p.Leu1491=) c.4240C>T (p.Leu1414=) | |
10 | g.94298565T>A | CA377642047 | PLCE1 | c.4430T>A (p.Leu1477Gln) c.*1897T>A (n.*1897T>A) n.2089T>A n.773T>A c.*638T>A (n.*638T>A) c.4382T>A (p.Leu1461Gln) n.9562T>A n.3027T>A c.5222T>A (p.Leu1741Gln) c.5306T>A (p.Leu1769Gln) c.5354T>A (p.Leu1785Gln) c.4328T>A (p.Leu1443Gln) c.3909T>A c.3470T>A (p.Leu1157Gln) c.*1287T>A (n.*1287T>A) c.4623T>A c.5396T>A (p.Leu1799Gln) c.5393T>A (p.Leu1798Gln) c.5348T>A (p.Leu1783Gln) c.4472T>A (p.Leu1491Gln) c.4241T>A (p.Leu1414Gln) | |
10 | g.94298565T>C | CA377642048 | PLCE1 | c.4430T>C (p.Leu1477Pro) c.*1897T>C (n.*1897T>C) n.2089T>C n.773T>C c.*638T>C (n.*638T>C) c.4382T>C (p.Leu1461Pro) n.9562T>C n.3027T>C c.5222T>C (p.Leu1741Pro) c.5306T>C (p.Leu1769Pro) c.5354T>C (p.Leu1785Pro) c.4328T>C (p.Leu1443Pro) c.3909T>C c.3470T>C (p.Leu1157Pro) c.*1287T>C (n.*1287T>C) c.4623T>C c.5396T>C (p.Leu1799Pro) c.5393T>C (p.Leu1798Pro) c.5348T>C (p.Leu1783Pro) c.4472T>C (p.Leu1491Pro) c.4241T>C (p.Leu1414Pro) | |
10 | g.94298565T>G | CA377642049 | PLCE1 | c.4430T>G (p.Leu1477Arg) c.*1897T>G (n.*1897T>G) n.2089T>G n.773T>G c.*638T>G (n.*638T>G) c.4382T>G (p.Leu1461Arg) n.9562T>G n.3027T>G c.5222T>G (p.Leu1741Arg) c.5306T>G (p.Leu1769Arg) c.5354T>G (p.Leu1785Arg) c.4328T>G (p.Leu1443Arg) c.3909T>G c.3470T>G (p.Leu1157Arg) c.*1287T>G (n.*1287T>G) c.4623T>G c.5396T>G (p.Leu1799Arg) c.5393T>G (p.Leu1798Arg) c.5348T>G (p.Leu1783Arg) c.4472T>G (p.Leu1491Arg) c.4241T>G (p.Leu1414Arg) | |
10 | g.94298566G>A | CA470986577 | PLCE1 | c.4431G>A (p.Leu1477=) c.*1898G>A (n.*1898G>A) n.2090G>A n.774G>A c.*639G>A (n.*639G>A) c.4383G>A (p.Leu1461=) n.9563G>A n.3028G>A c.5223G>A (p.Leu1741=) c.5307G>A (p.Leu1769=) c.5355G>A (p.Leu1785=) c.4329G>A (p.Leu1443=) c.3910G>A c.3471G>A (p.Leu1157=) c.*1288G>A (n.*1288G>A) c.4624G>A c.5397G>A (p.Leu1799=) c.5394G>A (p.Leu1798=) c.5349G>A (p.Leu1783=) c.4473G>A (p.Leu1491=) c.4242G>A (p.Leu1414=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94298566G>C | CA470986578 | PLCE1 | c.4431G>C (p.Leu1477=) c.*1898G>C (n.*1898G>C) n.2090G>C n.774G>C c.*639G>C (n.*639G>C) c.4383G>C (p.Leu1461=) n.9563G>C n.3028G>C c.5223G>C (p.Leu1741=) c.5307G>C (p.Leu1769=) c.5355G>C (p.Leu1785=) c.4329G>C (p.Leu1443=) c.3910G>C c.3471G>C (p.Leu1157=) c.*1288G>C (n.*1288G>C) c.4624G>C c.5397G>C (p.Leu1799=) c.5394G>C (p.Leu1798=) c.5349G>C (p.Leu1783=) c.4473G>C (p.Leu1491=) c.4242G>C (p.Leu1414=) | |
10 | g.94298566G= | CA1928998440 | PLCE1 | c.4431G= (p.Leu1477=) c.*1898G= (n.*1898G=) n.2090G= n.774G= c.*639G= (n.*639G=) c.4383G= (p.Leu1461=) n.9563G= n.3028G= c.5223G= (p.Leu1741=) c.5307G= (p.Leu1769=) c.5355G= (p.Leu1785=) c.4329G= (p.Leu1443=) c.3910G= c.3471G= (p.Leu1157=) c.*1288G= (n.*1288G=) c.4624G= c.5397G= (p.Leu1799=) c.5394G= (p.Leu1798=) c.5349G= (p.Leu1783=) c.4473G= (p.Leu1491=) c.4242G= (p.Leu1414=) | |
10 | g.94298566G>T | CA470986579 | PLCE1 | c.4431G>T (p.Leu1477=) c.*1898G>T (n.*1898G>T) n.2090G>T n.774G>T c.*639G>T (n.*639G>T) c.4383G>T (p.Leu1461=) n.9563G>T n.3028G>T c.5223G>T (p.Leu1741=) c.5307G>T (p.Leu1769=) c.5355G>T (p.Leu1785=) c.4329G>T (p.Leu1443=) c.3910G>T c.3471G>T (p.Leu1157=) c.*1288G>T (n.*1288G>T) c.4624G>T c.5397G>T (p.Leu1799=) c.5394G>T (p.Leu1798=) c.5349G>T (p.Leu1783=) c.4473G>T (p.Leu1491=) c.4242G>T (p.Leu1414=) | |
10 | g.94298567A>C | CA470986580 | PLCE1 | c.4432A>C (p.Arg1478=) c.*1899A>C (n.*1899A>C) n.2091A>C n.775A>C c.*640A>C (n.*640A>C) c.4384A>C (p.Arg1462=) n.9564A>C n.3029A>C c.5224A>C (p.Arg1742=) c.5308A>C (p.Arg1770=) c.5356A>C (p.Arg1786=) c.4330A>C (p.Arg1444=) c.3911A>C c.3472A>C (p.Arg1158=) c.*1289A>C (n.*1289A>C) c.4625A>C c.5398A>C (p.Arg1800=) c.5395A>C (p.Arg1799=) c.5350A>C (p.Arg1784=) c.4474A>C (p.Arg1492=) c.4243A>C (p.Arg1415=) | |
10 | g.94298567A>G | CA377642050 | PLCE1 | c.4432A>G (p.Arg1478Gly) c.*1899A>G (n.*1899A>G) n.2091A>G n.775A>G c.*640A>G (n.*640A>G) c.4384A>G (p.Arg1462Gly) n.9564A>G n.3029A>G c.5224A>G (p.Arg1742Gly) c.5308A>G (p.Arg1770Gly) c.5356A>G (p.Arg1786Gly) c.4330A>G (p.Arg1444Gly) c.3911A>G c.3472A>G (p.Arg1158Gly) c.*1289A>G (n.*1289A>G) c.4625A>G c.5398A>G (p.Arg1800Gly) c.5395A>G (p.Arg1799Gly) c.5350A>G (p.Arg1784Gly) c.4474A>G (p.Arg1492Gly) c.4243A>G (p.Arg1415Gly) | |
10 | g.94298567A>T | CA377642051 | PLCE1 | c.4432A>T (p.Arg1478Ter) c.*1899A>T (n.*1899A>T) n.2091A>T n.775A>T c.*640A>T (n.*640A>T) c.4384A>T (p.Arg1462Ter) n.9564A>T n.3029A>T c.5224A>T (p.Arg1742Ter) c.5308A>T (p.Arg1770Ter) c.5356A>T (p.Arg1786Ter) c.4330A>T (p.Arg1444Ter) c.3911A>T c.3472A>T (p.Arg1158Ter) c.*1289A>T (n.*1289A>T) c.4625A>T c.5398A>T (p.Arg1800Ter) c.5395A>T (p.Arg1799Ter) c.5350A>T (p.Arg1784Ter) c.4474A>T (p.Arg1492Ter) c.4243A>T (p.Arg1415Ter) | |
10 | g.94298568G>A | CA377642052 | PLCE1 | c.4433G>A (p.Arg1478Lys) c.*1900G>A (n.*1900G>A) n.2092G>A n.776G>A c.*641G>A (n.*641G>A) c.4385G>A (p.Arg1462Lys) n.9565G>A n.3030G>A c.5225G>A (p.Arg1742Lys) c.5309G>A (p.Arg1770Lys) c.5357G>A (p.Arg1786Lys) c.4331G>A (p.Arg1444Lys) c.3912G>A c.3473G>A (p.Arg1158Lys) c.*1290G>A (n.*1290G>A) c.4626G>A c.5399G>A (p.Arg1800Lys) c.5396G>A (p.Arg1799Lys) c.5351G>A (p.Arg1784Lys) c.4475G>A (p.Arg1492Lys) c.4244G>A (p.Arg1415Lys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298568G>C | CA377642053 | PLCE1 | c.4433G>C (p.Arg1478Thr) c.*1900G>C (n.*1900G>C) n.2092G>C n.776G>C c.*641G>C (n.*641G>C) c.4385G>C (p.Arg1462Thr) n.9565G>C n.3030G>C c.5225G>C (p.Arg1742Thr) c.5309G>C (p.Arg1770Thr) c.5357G>C (p.Arg1786Thr) c.4331G>C (p.Arg1444Thr) c.3912G>C c.3473G>C (p.Arg1158Thr) c.*1290G>C (n.*1290G>C) c.4626G>C c.5399G>C (p.Arg1800Thr) c.5396G>C (p.Arg1799Thr) c.5351G>C (p.Arg1784Thr) c.4475G>C (p.Arg1492Thr) c.4244G>C (p.Arg1415Thr) | |
10 | g.94298568G= | CA1928998441 | PLCE1 | c.4433G= (p.Arg1478=) c.*1900G= (n.*1900G=) n.2092G= n.776G= c.*641G= (n.*641G=) c.4385G= (p.Arg1462=) n.9565G= n.3030G= c.5225G= (p.Arg1742=) c.5309G= (p.Arg1770=) c.5357G= (p.Arg1786=) c.4331G= (p.Arg1444=) c.3912G= c.3473G= (p.Arg1158=) c.*1290G= (n.*1290G=) c.4626G= c.5399G= (p.Arg1800=) c.5396G= (p.Arg1799=) c.5351G= (p.Arg1784=) c.4475G= (p.Arg1492=) c.4244G= (p.Arg1415=) | |
10 | g.94298568G>T | CA377642054 | PLCE1 | c.4433G>T (p.Arg1478Ile) c.*1900G>T (n.*1900G>T) n.2092G>T n.776G>T c.*641G>T (n.*641G>T) c.4385G>T (p.Arg1462Ile) n.9565G>T n.3030G>T c.5225G>T (p.Arg1742Ile) c.5309G>T (p.Arg1770Ile) c.5357G>T (p.Arg1786Ile) c.4331G>T (p.Arg1444Ile) c.3912G>T c.3473G>T (p.Arg1158Ile) c.*1290G>T (n.*1290G>T) c.4626G>T c.5399G>T (p.Arg1800Ile) c.5396G>T (p.Arg1799Ile) c.5351G>T (p.Arg1784Ile) c.4475G>T (p.Arg1492Ile) c.4244G>T (p.Arg1415Ile) | |
10 | g.94298569A= | CA1928998442 | PLCE1 | c.4434A= (p.Arg1478=) c.*1901A= (n.*1901A=) n.2093A= n.777A= c.*642A= (n.*642A=) c.4386A= (p.Arg1462=) n.9566A= n.3031A= c.5226A= (p.Arg1742=) c.5310A= (p.Arg1770=) c.5358A= (p.Arg1786=) c.4332A= (p.Arg1444=) c.3913A= c.3474A= (p.Arg1158=) c.*1291A= (n.*1291A=) c.4627A= c.5400A= (p.Arg1800=) c.5397A= (p.Arg1799=) c.5352A= (p.Arg1784=) c.4476A= (p.Arg1492=) c.4245A= (p.Arg1415=) | |
10 | g.94298569A>C | CA377642055 | PLCE1 | c.4434A>C (p.Arg1478Ser) c.*1901A>C (n.*1901A>C) n.2093A>C n.777A>C c.*642A>C (n.*642A>C) c.4386A>C (p.Arg1462Ser) n.9566A>C n.3031A>C c.5226A>C (p.Arg1742Ser) c.5310A>C (p.Arg1770Ser) c.5358A>C (p.Arg1786Ser) c.4332A>C (p.Arg1444Ser) c.3913A>C c.3474A>C (p.Arg1158Ser) c.*1291A>C (n.*1291A>C) c.4627A>C c.5400A>C (p.Arg1800Ser) c.5397A>C (p.Arg1799Ser) c.5352A>C (p.Arg1784Ser) c.4476A>C (p.Arg1492Ser) c.4245A>C (p.Arg1415Ser) | |
10 | g.94298569A>G | CA5613345 | PLCE1 | c.4434A>G (p.Arg1478=) c.*1901A>G (n.*1901A>G) n.2093A>G n.777A>G c.*642A>G (n.*642A>G) c.4386A>G (p.Arg1462=) n.9566A>G n.3031A>G c.5226A>G (p.Arg1742=) c.5310A>G (p.Arg1770=) c.5358A>G (p.Arg1786=) c.4332A>G (p.Arg1444=) c.3913A>G c.3474A>G (p.Arg1158=) c.*1291A>G (n.*1291A>G) c.4627A>G c.5400A>G (p.Arg1800=) c.5397A>G (p.Arg1799=) c.5352A>G (p.Arg1784=) c.4476A>G (p.Arg1492=) c.4245A>G (p.Arg1415=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298569A>T | CA5613344 | PLCE1 | c.4434A>T (p.Arg1478Ser) c.*1901A>T (n.*1901A>T) n.2093A>T n.777A>T c.*642A>T (n.*642A>T) c.4386A>T (p.Arg1462Ser) n.9566A>T n.3031A>T c.5226A>T (p.Arg1742Ser) c.5310A>T (p.Arg1770Ser) c.5358A>T (p.Arg1786Ser) c.4332A>T (p.Arg1444Ser) c.3913A>T c.3474A>T (p.Arg1158Ser) c.*1291A>T (n.*1291A>T) c.4627A>T c.5400A>T (p.Arg1800Ser) c.5397A>T (p.Arg1799Ser) c.5352A>T (p.Arg1784Ser) c.4476A>T (p.Arg1492Ser) c.4245A>T (p.Arg1415Ser) | dbSNP ExAC |
10 | g.94298570A>C | CA377642056 | PLCE1 | c.4435A>C (p.Thr1479Pro) c.*1902A>C (n.*1902A>C) n.2094A>C n.778A>C c.*643A>C (n.*643A>C) c.4387A>C (p.Thr1463Pro) n.9567A>C n.3032A>C c.5227A>C (p.Thr1743Pro) c.5311A>C (p.Thr1771Pro) c.5359A>C (p.Thr1787Pro) c.4333A>C (p.Thr1445Pro) c.3914A>C c.3475A>C (p.Thr1159Pro) c.*1292A>C (n.*1292A>C) c.4628A>C c.5401A>C (p.Thr1801Pro) c.5398A>C (p.Thr1800Pro) c.5353A>C (p.Thr1785Pro) c.4477A>C (p.Thr1493Pro) c.4246A>C (p.Thr1416Pro) | gnomAD v4 |
10 | g.94298570A>G | CA377642058 | PLCE1 | c.4435A>G (p.Thr1479Ala) c.*1902A>G (n.*1902A>G) n.2094A>G n.778A>G c.*643A>G (n.*643A>G) c.4387A>G (p.Thr1463Ala) n.9567A>G n.3032A>G c.5227A>G (p.Thr1743Ala) c.5311A>G (p.Thr1771Ala) c.5359A>G (p.Thr1787Ala) c.4333A>G (p.Thr1445Ala) c.3914A>G c.3475A>G (p.Thr1159Ala) c.*1292A>G (n.*1292A>G) c.4628A>G c.5401A>G (p.Thr1801Ala) c.5398A>G (p.Thr1800Ala) c.5353A>G (p.Thr1785Ala) c.4477A>G (p.Thr1493Ala) c.4246A>G (p.Thr1416Ala) | |
10 | g.94298570A>T | CA377642057 | PLCE1 | c.4435A>T (p.Thr1479Ser) c.*1902A>T (n.*1902A>T) n.2094A>T n.778A>T c.*643A>T (n.*643A>T) c.4387A>T (p.Thr1463Ser) n.9567A>T n.3032A>T c.5227A>T (p.Thr1743Ser) c.5311A>T (p.Thr1771Ser) c.5359A>T (p.Thr1787Ser) c.4333A>T (p.Thr1445Ser) c.3914A>T c.3475A>T (p.Thr1159Ser) c.*1292A>T (n.*1292A>T) c.4628A>T c.5401A>T (p.Thr1801Ser) c.5398A>T (p.Thr1800Ser) c.5353A>T (p.Thr1785Ser) c.4477A>T (p.Thr1493Ser) c.4246A>T (p.Thr1416Ser) | |
10 | g.94298571C>A | CA377642059 | PLCE1 | c.4436C>A (p.Thr1479Asn) c.*1903C>A (n.*1903C>A) n.2095C>A n.779C>A c.*644C>A (n.*644C>A) c.4388C>A (p.Thr1463Asn) n.9568C>A n.3033C>A c.5228C>A (p.Thr1743Asn) c.5312C>A (p.Thr1771Asn) c.5360C>A (p.Thr1787Asn) c.4334C>A (p.Thr1445Asn) c.3915C>A c.3476C>A (p.Thr1159Asn) c.*1293C>A (n.*1293C>A) c.4629C>A c.5402C>A (p.Thr1801Asn) c.5399C>A (p.Thr1800Asn) c.5354C>A (p.Thr1785Asn) c.4478C>A (p.Thr1493Asn) c.4247C>A (p.Thr1416Asn) | |
10 | g.94298571C>G | CA377642061 | PLCE1 | c.4436C>G (p.Thr1479Ser) c.*1903C>G (n.*1903C>G) n.2095C>G n.779C>G c.*644C>G (n.*644C>G) c.4388C>G (p.Thr1463Ser) n.9568C>G n.3033C>G c.5228C>G (p.Thr1743Ser) c.5312C>G (p.Thr1771Ser) c.5360C>G (p.Thr1787Ser) c.4334C>G (p.Thr1445Ser) c.3915C>G c.3476C>G (p.Thr1159Ser) c.*1293C>G (n.*1293C>G) c.4629C>G c.5402C>G (p.Thr1801Ser) c.5399C>G (p.Thr1800Ser) c.5354C>G (p.Thr1785Ser) c.4478C>G (p.Thr1493Ser) c.4247C>G (p.Thr1416Ser) | |
10 | g.94298571C>T | CA377642060 | PLCE1 | c.4436C>T (p.Thr1479Ile) c.*1903C>T (n.*1903C>T) n.2095C>T n.779C>T c.*644C>T (n.*644C>T) c.4388C>T (p.Thr1463Ile) n.9568C>T n.3033C>T c.5228C>T (p.Thr1743Ile) c.5312C>T (p.Thr1771Ile) c.5360C>T (p.Thr1787Ile) c.4334C>T (p.Thr1445Ile) c.3915C>T c.3476C>T (p.Thr1159Ile) c.*1293C>T (n.*1293C>T) c.4629C>T c.5402C>T (p.Thr1801Ile) c.5399C>T (p.Thr1800Ile) c.5354C>T (p.Thr1785Ile) c.4478C>T (p.Thr1493Ile) c.4247C>T (p.Thr1416Ile) | |
10 | g.94298572T>A | CA470986582 | PLCE1 | c.4437T>A (p.Thr1479=) c.*1904T>A (n.*1904T>A) n.2096T>A n.780T>A c.*645T>A (n.*645T>A) c.4389T>A (p.Thr1463=) n.9569T>A n.3034T>A c.5229T>A (p.Thr1743=) c.5313T>A (p.Thr1771=) c.5361T>A (p.Thr1787=) c.4335T>A (p.Thr1445=) c.3916T>A c.3477T>A (p.Thr1159=) c.*1294T>A (n.*1294T>A) c.4630T>A c.5403T>A (p.Thr1801=) c.5400T>A (p.Thr1800=) c.5355T>A (p.Thr1785=) c.4479T>A (p.Thr1493=) c.4248T>A (p.Thr1416=) | |
10 | g.94298572T>C | CA470986583 | PLCE1 | c.4437T>C (p.Thr1479=) c.*1904T>C (n.*1904T>C) n.2096T>C n.780T>C c.*645T>C (n.*645T>C) c.4389T>C (p.Thr1463=) n.9569T>C n.3034T>C c.5229T>C (p.Thr1743=) c.5313T>C (p.Thr1771=) c.5361T>C (p.Thr1787=) c.4335T>C (p.Thr1445=) c.3916T>C c.3477T>C (p.Thr1159=) c.*1294T>C (n.*1294T>C) c.4630T>C c.5403T>C (p.Thr1801=) c.5400T>C (p.Thr1800=) c.5355T>C (p.Thr1785=) c.4479T>C (p.Thr1493=) c.4248T>C (p.Thr1416=) | dbSNP |
10 | g.94298572T>G | CA470986584 | PLCE1 | c.4437T>G (p.Thr1479=) c.*1904T>G (n.*1904T>G) n.2096T>G n.780T>G c.*645T>G (n.*645T>G) c.4389T>G (p.Thr1463=) n.9569T>G n.3034T>G c.5229T>G (p.Thr1743=) c.5313T>G (p.Thr1771=) c.5361T>G (p.Thr1787=) c.4335T>G (p.Thr1445=) c.3916T>G c.3477T>G (p.Thr1159=) c.*1294T>G (n.*1294T>G) c.4630T>G c.5403T>G (p.Thr1801=) c.5400T>G (p.Thr1800=) c.5355T>G (p.Thr1785=) c.4479T>G (p.Thr1493=) c.4248T>G (p.Thr1416=) | |
10 | g.94298572T= | CA1928998443 | PLCE1 | c.4437T= (p.Thr1479=) c.*1904T= (n.*1904T=) n.2096T= n.780T= c.*645T= (n.*645T=) c.4389T= (p.Thr1463=) n.9569T= n.3034T= c.5229T= (p.Thr1743=) c.5313T= (p.Thr1771=) c.5361T= (p.Thr1787=) c.4335T= (p.Thr1445=) c.3916T= c.3477T= (p.Thr1159=) c.*1294T= (n.*1294T=) c.4630T= c.5403T= (p.Thr1801=) c.5400T= (p.Thr1800=) c.5355T= (p.Thr1785=) c.4479T= (p.Thr1493=) c.4248T= (p.Thr1416=) | |
10 | g.94298573T>A | CA377642062 | PLCE1 | c.4438T>A (p.Tyr1480Asn) c.*1905T>A (n.*1905T>A) n.2097T>A n.781T>A c.*646T>A (n.*646T>A) c.4390T>A (p.Tyr1464Asn) n.9570T>A n.3035T>A c.5230T>A (p.Tyr1744Asn) c.5314T>A (p.Tyr1772Asn) c.5362T>A (p.Tyr1788Asn) c.4336T>A (p.Tyr1446Asn) c.3917T>A c.3478T>A (p.Tyr1160Asn) c.*1295T>A (n.*1295T>A) c.4631T>A c.5404T>A (p.Tyr1802Asn) c.5401T>A (p.Tyr1801Asn) c.5356T>A (p.Tyr1786Asn) c.4480T>A (p.Tyr1494Asn) c.4249T>A (p.Tyr1417Asn) | |
10 | g.94298573T>C | CA377642064 | PLCE1 | c.4438T>C (p.Tyr1480His) c.*1905T>C (n.*1905T>C) n.2097T>C n.781T>C c.*646T>C (n.*646T>C) c.4390T>C (p.Tyr1464His) n.9570T>C n.3035T>C c.5230T>C (p.Tyr1744His) c.5314T>C (p.Tyr1772His) c.5362T>C (p.Tyr1788His) c.4336T>C (p.Tyr1446His) c.3917T>C c.3478T>C (p.Tyr1160His) c.*1295T>C (n.*1295T>C) c.4631T>C c.5404T>C (p.Tyr1802His) c.5401T>C (p.Tyr1801His) c.5356T>C (p.Tyr1786His) c.4480T>C (p.Tyr1494His) c.4249T>C (p.Tyr1417His) | |
10 | g.94298573T>G | CA377642063 | PLCE1 | c.4438T>G (p.Tyr1480Asp) c.*1905T>G (n.*1905T>G) n.2097T>G n.781T>G c.*646T>G (n.*646T>G) c.4390T>G (p.Tyr1464Asp) n.9570T>G n.3035T>G c.5230T>G (p.Tyr1744Asp) c.5314T>G (p.Tyr1772Asp) c.5362T>G (p.Tyr1788Asp) c.4336T>G (p.Tyr1446Asp) c.3917T>G c.3478T>G (p.Tyr1160Asp) c.*1295T>G (n.*1295T>G) c.4631T>G c.5404T>G (p.Tyr1802Asp) c.5401T>G (p.Tyr1801Asp) c.5356T>G (p.Tyr1786Asp) c.4480T>G (p.Tyr1494Asp) c.4249T>G (p.Tyr1417Asp) | |
10 | g.94298574A>C | CA377642065 | PLCE1 | c.4439A>C (p.Tyr1480Ser) c.*1906A>C (n.*1906A>C) n.2098A>C n.782A>C c.*647A>C (n.*647A>C) c.4391A>C (p.Tyr1464Ser) n.9571A>C n.3036A>C c.5231A>C (p.Tyr1744Ser) c.5315A>C (p.Tyr1772Ser) c.5363A>C (p.Tyr1788Ser) c.4337A>C (p.Tyr1446Ser) c.3918A>C c.3479A>C (p.Tyr1160Ser) c.*1296A>C (n.*1296A>C) c.4632A>C c.5405A>C (p.Tyr1802Ser) c.5402A>C (p.Tyr1801Ser) c.5357A>C (p.Tyr1786Ser) c.4481A>C (p.Tyr1494Ser) c.4250A>C (p.Tyr1417Ser) | |
10 | g.94298574A>G | CA377642067 | PLCE1 | c.4439A>G (p.Tyr1480Cys) c.*1906A>G (n.*1906A>G) n.2098A>G n.782A>G c.*647A>G (n.*647A>G) c.4391A>G (p.Tyr1464Cys) n.9571A>G n.3036A>G c.5231A>G (p.Tyr1744Cys) c.5315A>G (p.Tyr1772Cys) c.5363A>G (p.Tyr1788Cys) c.4337A>G (p.Tyr1446Cys) c.3918A>G c.3479A>G (p.Tyr1160Cys) c.*1296A>G (n.*1296A>G) c.4632A>G c.5405A>G (p.Tyr1802Cys) c.5402A>G (p.Tyr1801Cys) c.5357A>G (p.Tyr1786Cys) c.4481A>G (p.Tyr1494Cys) c.4250A>G (p.Tyr1417Cys) | |
10 | g.94298574A>T | CA377642066 | PLCE1 | c.4439A>T (p.Tyr1480Phe) c.*1906A>T (n.*1906A>T) n.2098A>T n.782A>T c.*647A>T (n.*647A>T) c.4391A>T (p.Tyr1464Phe) n.9571A>T n.3036A>T c.5231A>T (p.Tyr1744Phe) c.5315A>T (p.Tyr1772Phe) c.5363A>T (p.Tyr1788Phe) c.4337A>T (p.Tyr1446Phe) c.3918A>T c.3479A>T (p.Tyr1160Phe) c.*1296A>T (n.*1296A>T) c.4632A>T c.5405A>T (p.Tyr1802Phe) c.5402A>T (p.Tyr1801Phe) c.5357A>T (p.Tyr1786Phe) c.4481A>T (p.Tyr1494Phe) c.4250A>T (p.Tyr1417Phe) | |
10 | g.94298574dup | CA2573145877 | PLCE1 | c.4439dup (p.Tyr1480Ter) c.*1906dup (n.*1906dup) n.2098dup n.782dup c.*647dup (n.*647dup) c.4391dup (p.Tyr1464Ter) n.9571dup n.3036dup c.5231dup (p.Tyr1744Ter) c.5315dup (p.Tyr1772Ter) c.5363dup (p.Tyr1788Ter) c.4337dup (p.Tyr1446Ter) c.3918dup c.3479dup (p.Tyr1160Ter) c.*1296dup (n.*1296dup) c.4632dup c.5405dup (p.Tyr1802Ter) c.5402dup (p.Tyr1801Ter) c.5357dup (p.Tyr1786Ter) c.4481dup (p.Tyr1494Ter) c.4250dup (p.Tyr1417Ter) | ClinVar dbSNP |
10 | g.94298575C>A | CA377642068 | PLCE1 | c.4440C>A (p.Tyr1480Ter) c.*1907C>A (n.*1907C>A) n.2099C>A n.783C>A c.*648C>A (n.*648C>A) c.4392C>A (p.Tyr1464Ter) n.9572C>A n.3037C>A c.5232C>A (p.Tyr1744Ter) c.5316C>A (p.Tyr1772Ter) c.5364C>A (p.Tyr1788Ter) c.4338C>A (p.Tyr1446Ter) c.3919C>A c.3480C>A (p.Tyr1160Ter) c.*1297C>A (n.*1297C>A) c.4633C>A c.5406C>A (p.Tyr1802Ter) c.5403C>A (p.Tyr1801Ter) c.5358C>A (p.Tyr1786Ter) c.4482C>A (p.Tyr1494Ter) c.4251C>A (p.Tyr1417Ter) | gnomAD v4 |
10 | g.94298575C= | CA1928998444 | PLCE1 | c.4440C= (p.Tyr1480=) c.*1907C= (n.*1907C=) n.2099C= n.783C= c.*648C= (n.*648C=) c.4392C= (p.Tyr1464=) n.9572C= n.3037C= c.5232C= (p.Tyr1744=) c.5316C= (p.Tyr1772=) c.5364C= (p.Tyr1788=) c.4338C= (p.Tyr1446=) c.3919C= c.3480C= (p.Tyr1160=) c.*1297C= (n.*1297C=) c.4633C= c.5406C= (p.Tyr1802=) c.5403C= (p.Tyr1801=) c.5358C= (p.Tyr1786=) c.4482C= (p.Tyr1494=) c.4251C= (p.Tyr1417=) | |
10 | g.94298575C>G | CA377642069 | PLCE1 | c.4440C>G (p.Tyr1480Ter) c.*1907C>G (n.*1907C>G) n.2099C>G n.783C>G c.*648C>G (n.*648C>G) c.4392C>G (p.Tyr1464Ter) n.9572C>G n.3037C>G c.5232C>G (p.Tyr1744Ter) c.5316C>G (p.Tyr1772Ter) c.5364C>G (p.Tyr1788Ter) c.4338C>G (p.Tyr1446Ter) c.3919C>G c.3480C>G (p.Tyr1160Ter) c.*1297C>G (n.*1297C>G) c.4633C>G c.5406C>G (p.Tyr1802Ter) c.5403C>G (p.Tyr1801Ter) c.5358C>G (p.Tyr1786Ter) c.4482C>G (p.Tyr1494Ter) c.4251C>G (p.Tyr1417Ter) | |
10 | g.94298575C>T | CA5613346 | PLCE1 | c.4440C>T (p.Tyr1480=) c.*1907C>T (n.*1907C>T) n.2099C>T n.783C>T c.*648C>T (n.*648C>T) c.4392C>T (p.Tyr1464=) n.9572C>T n.3037C>T c.5232C>T (p.Tyr1744=) c.5316C>T (p.Tyr1772=) c.5364C>T (p.Tyr1788=) c.4338C>T (p.Tyr1446=) c.3919C>T c.3480C>T (p.Tyr1160=) c.*1297C>T (n.*1297C>T) c.4633C>T c.5406C>T (p.Tyr1802=) c.5403C>T (p.Tyr1801=) c.5358C>T (p.Tyr1786=) c.4482C>T (p.Tyr1494=) c.4251C>T (p.Tyr1417=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94298576C>A | CA377642070 | PLCE1 | c.4441C>A (p.Pro1481Thr) c.*1908C>A (n.*1908C>A) n.2100C>A n.784C>A c.*649C>A (n.*649C>A) c.4393C>A (p.Pro1465Thr) n.9573C>A n.3038C>A c.5233C>A (p.Pro1745Thr) c.5317C>A (p.Pro1773Thr) c.5365C>A (p.Pro1789Thr) c.4339C>A (p.Pro1447Thr) c.3920C>A c.3481C>A (p.Pro1161Thr) c.*1298C>A (n.*1298C>A) c.4634C>A c.5407C>A (p.Pro1803Thr) c.5404C>A (p.Pro1802Thr) c.5359C>A (p.Pro1787Thr) c.4483C>A (p.Pro1495Thr) c.4252C>A (p.Pro1418Thr) | |
10 | g.94298576C= | CA1928998445 | PLCE1 | c.4441C= (p.Pro1481=) c.*1908C= (n.*1908C=) n.2100C= n.784C= c.*649C= (n.*649C=) c.4393C= (p.Pro1465=) n.9573C= n.3038C= c.5233C= (p.Pro1745=) c.5317C= (p.Pro1773=) c.5365C= (p.Pro1789=) c.4339C= (p.Pro1447=) c.3920C= c.3481C= (p.Pro1161=) c.*1298C= (n.*1298C=) c.4634C= c.5407C= (p.Pro1803=) c.5404C= (p.Pro1802=) c.5359C= (p.Pro1787=) c.4483C= (p.Pro1495=) c.4252C= (p.Pro1418=) | |
10 | g.94298576C>G | CA377642071 | PLCE1 | c.4441C>G (p.Pro1481Ala) c.*1908C>G (n.*1908C>G) n.2100C>G n.784C>G c.*649C>G (n.*649C>G) c.4393C>G (p.Pro1465Ala) n.9573C>G n.3038C>G c.5233C>G (p.Pro1745Ala) c.5317C>G (p.Pro1773Ala) c.5365C>G (p.Pro1789Ala) c.4339C>G (p.Pro1447Ala) c.3920C>G c.3481C>G (p.Pro1161Ala) c.*1298C>G (n.*1298C>G) c.4634C>G c.5407C>G (p.Pro1803Ala) c.5404C>G (p.Pro1802Ala) c.5359C>G (p.Pro1787Ala) c.4483C>G (p.Pro1495Ala) c.4252C>G (p.Pro1418Ala) | gnomAD v4 |
10 | g.94298576C>T | CA5613347 | PLCE1 | c.4441C>T (p.Pro1481Ser) c.*1908C>T (n.*1908C>T) n.2100C>T n.784C>T c.*649C>T (n.*649C>T) c.4393C>T (p.Pro1465Ser) n.9573C>T n.3038C>T c.5233C>T (p.Pro1745Ser) c.5317C>T (p.Pro1773Ser) c.5365C>T (p.Pro1789Ser) c.4339C>T (p.Pro1447Ser) c.3920C>T c.3481C>T (p.Pro1161Ser) c.*1298C>T (n.*1298C>T) c.4634C>T c.5407C>T (p.Pro1803Ser) c.5404C>T (p.Pro1802Ser) c.5359C>T (p.Pro1787Ser) c.4483C>T (p.Pro1495Ser) c.4252C>T (p.Pro1418Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298577C>A | CA377642072 | PLCE1 | c.4442C>A (p.Pro1481His) c.*1909C>A (n.*1909C>A) n.2101C>A n.785C>A c.*650C>A (n.*650C>A) c.4394C>A (p.Pro1465His) n.9574C>A n.3039C>A c.5234C>A (p.Pro1745His) c.5318C>A (p.Pro1773His) c.5366C>A (p.Pro1789His) c.4340C>A (p.Pro1447His) c.3921C>A c.3482C>A (p.Pro1161His) c.*1299C>A (n.*1299C>A) c.4635C>A c.5408C>A (p.Pro1803His) c.5405C>A (p.Pro1802His) c.5360C>A (p.Pro1787His) c.4484C>A (p.Pro1495His) c.4253C>A (p.Pro1418His) | |
10 | g.94298577C>G | CA377642073 | PLCE1 | c.4442C>G (p.Pro1481Arg) c.*1909C>G (n.*1909C>G) n.2101C>G n.785C>G c.*650C>G (n.*650C>G) c.4394C>G (p.Pro1465Arg) n.9574C>G n.3039C>G c.5234C>G (p.Pro1745Arg) c.5318C>G (p.Pro1773Arg) c.5366C>G (p.Pro1789Arg) c.4340C>G (p.Pro1447Arg) c.3921C>G c.3482C>G (p.Pro1161Arg) c.*1299C>G (n.*1299C>G) c.4635C>G c.5408C>G (p.Pro1803Arg) c.5405C>G (p.Pro1802Arg) c.5360C>G (p.Pro1787Arg) c.4484C>G (p.Pro1495Arg) c.4253C>G (p.Pro1418Arg) | |
10 | g.94298577C>T | CA377642074 | PLCE1 | c.4442C>T (p.Pro1481Leu) c.*1909C>T (n.*1909C>T) n.2101C>T n.785C>T c.*650C>T (n.*650C>T) c.4394C>T (p.Pro1465Leu) n.9574C>T n.3039C>T c.5234C>T (p.Pro1745Leu) c.5318C>T (p.Pro1773Leu) c.5366C>T (p.Pro1789Leu) c.4340C>T (p.Pro1447Leu) c.3921C>T c.3482C>T (p.Pro1161Leu) c.*1299C>T (n.*1299C>T) c.4635C>T c.5408C>T (p.Pro1803Leu) c.5405C>T (p.Pro1802Leu) c.5360C>T (p.Pro1787Leu) c.4484C>T (p.Pro1495Leu) c.4253C>T (p.Pro1418Leu) | |
10 | g.94298578T>A | CA470986586 | PLCE1 | c.4443T>A (p.Pro1481=) c.*1910T>A (n.*1910T>A) n.2102T>A n.786T>A c.*651T>A (n.*651T>A) c.4395T>A (p.Pro1465=) n.9575T>A n.3040T>A c.5235T>A (p.Pro1745=) c.5319T>A (p.Pro1773=) c.5367T>A (p.Pro1789=) c.4341T>A (p.Pro1447=) c.3922T>A c.3483T>A (p.Pro1161=) c.*1300T>A (n.*1300T>A) c.4636T>A c.5409T>A (p.Pro1803=) c.5406T>A (p.Pro1802=) c.5361T>A (p.Pro1787=) c.4485T>A (p.Pro1495=) c.4254T>A (p.Pro1418=) |