Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.94293573T>ACA377640685PLCE1c.4177T>A (p.Phe1393Ile)
c.*1644T>A (n.*1644T>A)
n.1836T>A
n.520T>A
c.*385T>A (n.*385T>A)
c.4129T>A (p.Phe1377Ile)
n.9309T>A
n.2774T>A
c.5036-4806T>A (n.5036-4806T>A)
c.5053T>A (p.Phe1685Ile)
c.5101T>A (p.Phe1701Ile)
c.4075T>A (p.Phe1359Ile)
c.3656T>A
c.3217T>A (p.Phe1073Ile)
c.*1034T>A (n.*1034T>A)
c.4370T>A
c.3946T>A (p.Phe1316Ile)
c.5143T>A (p.Phe1715Ile)
c.5140T>A (p.Phe1714Ile)
c.5095T>A (p.Phe1699Ile)
c.4219T>A (p.Phe1407Ile)
c.3988T>A (p.Phe1330Ile)
10g.94293573T>CCA377640687PLCE1c.4177T>C (p.Phe1393Leu)
c.*1644T>C (n.*1644T>C)
n.1836T>C
n.520T>C
c.*385T>C (n.*385T>C)
c.4129T>C (p.Phe1377Leu)
n.9309T>C
n.2774T>C
c.5036-4806T>C (n.5036-4806T>C)
c.5053T>C (p.Phe1685Leu)
c.5101T>C (p.Phe1701Leu)
c.4075T>C (p.Phe1359Leu)
c.3656T>C
c.3217T>C (p.Phe1073Leu)
c.*1034T>C (n.*1034T>C)
c.4370T>C
c.3946T>C (p.Phe1316Leu)
c.5143T>C (p.Phe1715Leu)
c.5140T>C (p.Phe1714Leu)
c.5095T>C (p.Phe1699Leu)
c.4219T>C (p.Phe1407Leu)
c.3988T>C (p.Phe1330Leu)
10g.94293573T>GCA377640689PLCE1c.4177T>G (p.Phe1393Val)
c.*1644T>G (n.*1644T>G)
n.1836T>G
n.520T>G
c.*385T>G (n.*385T>G)
c.4129T>G (p.Phe1377Val)
n.9309T>G
n.2774T>G
c.5036-4806T>G (n.5036-4806T>G)
c.5053T>G (p.Phe1685Val)
c.5101T>G (p.Phe1701Val)
c.4075T>G (p.Phe1359Val)
c.3656T>G
c.3217T>G (p.Phe1073Val)
c.*1034T>G (n.*1034T>G)
c.4370T>G
c.3946T>G (p.Phe1316Val)
c.5143T>G (p.Phe1715Val)
c.5140T>G (p.Phe1714Val)
c.5095T>G (p.Phe1699Val)
c.4219T>G (p.Phe1407Val)
c.3988T>G (p.Phe1330Val)
10g.94293574T>ACA377640695PLCE1c.4178T>A (p.Phe1393Tyr)
c.*1645T>A (n.*1645T>A)
n.1837T>A
n.521T>A
c.*386T>A (n.*386T>A)
c.4130T>A (p.Phe1377Tyr)
n.9310T>A
n.2775T>A
c.5036-4805T>A (n.5036-4805T>A)
c.5054T>A (p.Phe1685Tyr)
c.5102T>A (p.Phe1701Tyr)
c.4076T>A (p.Phe1359Tyr)
c.3657T>A
c.3218T>A (p.Phe1073Tyr)
c.*1035T>A (n.*1035T>A)
c.4371T>A
c.3947T>A (p.Phe1316Tyr)
c.5144T>A (p.Phe1715Tyr)
c.5141T>A (p.Phe1714Tyr)
c.5096T>A (p.Phe1699Tyr)
c.4220T>A (p.Phe1407Tyr)
c.3989T>A (p.Phe1330Tyr)
10g.94293574T>CCA377640691PLCE1c.4178T>C (p.Phe1393Ser)
c.*1645T>C (n.*1645T>C)
n.1837T>C
n.521T>C
c.*386T>C (n.*386T>C)
c.4130T>C (p.Phe1377Ser)
n.9310T>C
n.2775T>C
c.5036-4805T>C (n.5036-4805T>C)
c.5054T>C (p.Phe1685Ser)
c.5102T>C (p.Phe1701Ser)
c.4076T>C (p.Phe1359Ser)
c.3657T>C
c.3218T>C (p.Phe1073Ser)
c.*1035T>C (n.*1035T>C)
c.4371T>C
c.3947T>C (p.Phe1316Ser)
c.5144T>C (p.Phe1715Ser)
c.5141T>C (p.Phe1714Ser)
c.5096T>C (p.Phe1699Ser)
c.4220T>C (p.Phe1407Ser)
c.3989T>C (p.Phe1330Ser)
 ClinVar dbSNP
10g.94293574T>GCA377640693PLCE1c.4178T>G (p.Phe1393Cys)
c.*1645T>G (n.*1645T>G)
n.1837T>G
n.521T>G
c.*386T>G (n.*386T>G)
c.4130T>G (p.Phe1377Cys)
n.9310T>G
n.2775T>G
c.5036-4805T>G (n.5036-4805T>G)
c.5054T>G (p.Phe1685Cys)
c.5102T>G (p.Phe1701Cys)
c.4076T>G (p.Phe1359Cys)
c.3657T>G
c.3218T>G (p.Phe1073Cys)
c.*1035T>G (n.*1035T>G)
c.4371T>G
c.3947T>G (p.Phe1316Cys)
c.5144T>G (p.Phe1715Cys)
c.5141T>G (p.Phe1714Cys)
c.5096T>G (p.Phe1699Cys)
c.4220T>G (p.Phe1407Cys)
c.3989T>G (p.Phe1330Cys)
10g.94293575T>ACA377640697PLCE1c.4179T>A (p.Phe1393Leu)
c.*1646T>A (n.*1646T>A)
n.1838T>A
n.522T>A
c.*387T>A (n.*387T>A)
c.4131T>A (p.Phe1377Leu)
n.9311T>A
n.2776T>A
c.5036-4804T>A (n.5036-4804T>A)
c.5055T>A (p.Phe1685Leu)
c.5103T>A (p.Phe1701Leu)
c.4077T>A (p.Phe1359Leu)
c.3658T>A
c.3219T>A (p.Phe1073Leu)
c.*1036T>A (n.*1036T>A)
c.4372T>A
c.3948T>A (p.Phe1316Leu)
c.5145T>A (p.Phe1715Leu)
c.5142T>A (p.Phe1714Leu)
c.5097T>A (p.Phe1699Leu)
c.4221T>A (p.Phe1407Leu)
c.3990T>A (p.Phe1330Leu)
10g.94293575T>CCA470807535PLCE1c.4179T>C (p.Phe1393=)
c.*1646T>C (n.*1646T>C)
n.1838T>C
n.522T>C
c.*387T>C (n.*387T>C)
c.4131T>C (p.Phe1377=)
n.9311T>C
n.2776T>C
c.5036-4804T>C (n.5036-4804T>C)
c.5055T>C (p.Phe1685=)
c.5103T>C (p.Phe1701=)
c.4077T>C (p.Phe1359=)
c.3658T>C
c.3219T>C (p.Phe1073=)
c.*1036T>C (n.*1036T>C)
c.4372T>C
c.3948T>C (p.Phe1316=)
c.5145T>C (p.Phe1715=)
c.5142T>C (p.Phe1714=)
c.5097T>C (p.Phe1699=)
c.4221T>C (p.Phe1407=)
c.3990T>C (p.Phe1330=)
10g.94293575T>GCA377640698PLCE1c.4179T>G (p.Phe1393Leu)
c.*1646T>G (n.*1646T>G)
n.1838T>G
n.522T>G
c.*387T>G (n.*387T>G)
c.4131T>G (p.Phe1377Leu)
n.9311T>G
n.2776T>G
c.5036-4804T>G (n.5036-4804T>G)
c.5055T>G (p.Phe1685Leu)
c.5103T>G (p.Phe1701Leu)
c.4077T>G (p.Phe1359Leu)
c.3658T>G
c.3219T>G (p.Phe1073Leu)
c.*1036T>G (n.*1036T>G)
c.4372T>G
c.3948T>G (p.Phe1316Leu)
c.5145T>G (p.Phe1715Leu)
c.5142T>G (p.Phe1714Leu)
c.5097T>G (p.Phe1699Leu)
c.4221T>G (p.Phe1407Leu)
c.3990T>G (p.Phe1330Leu)
 dbSNP gnomAD v2 gnomAD v4
10g.94293575T=CA1928996192PLCE1c.4179T= (p.Phe1393=)
c.*1646T= (n.*1646T=)
n.1838T=
n.522T=
c.*387T= (n.*387T=)
c.4131T= (p.Phe1377=)
n.9311T=
n.2776T=
c.5036-4804T= (n.5036-4804T=)
c.5055T= (p.Phe1685=)
c.5103T= (p.Phe1701=)
c.4077T= (p.Phe1359=)
c.3658T=
c.3219T= (p.Phe1073=)
c.*1036T= (n.*1036T=)
c.4372T=
c.3948T= (p.Phe1316=)
c.5145T= (p.Phe1715=)
c.5142T= (p.Phe1714=)
c.5097T= (p.Phe1699=)
c.4221T= (p.Phe1407=)
c.3990T= (p.Phe1330=)
10g.94293576G>ACA377640702PLCE1c.4180G>A (p.Gly1394Ser)
c.*1647G>A (n.*1647G>A)
n.1839G>A
n.523G>A
c.*388G>A (n.*388G>A)
c.4132G>A (p.Gly1378Ser)
n.9312G>A
n.2777G>A
c.5036-4803G>A (n.5036-4803G>A)
c.5056G>A (p.Gly1686Ser)
c.5104G>A (p.Gly1702Ser)
c.4078G>A (p.Gly1360Ser)
c.3659G>A
c.3220G>A (p.Gly1074Ser)
c.*1037G>A (n.*1037G>A)
c.4373G>A
c.3949G>A (p.Gly1317Ser)
c.5146G>A (p.Gly1716Ser)
c.5143G>A (p.Gly1715Ser)
c.5098G>A (p.Gly1700Ser)
c.4222G>A (p.Gly1408Ser)
c.3991G>A (p.Gly1331Ser)
10g.94293576G>CCA377640703PLCE1c.4180G>C (p.Gly1394Arg)
c.*1647G>C (n.*1647G>C)
n.1839G>C
n.523G>C
c.*388G>C (n.*388G>C)
c.4132G>C (p.Gly1378Arg)
n.9312G>C
n.2777G>C
c.5036-4803G>C (n.5036-4803G>C)
c.5056G>C (p.Gly1686Arg)
c.5104G>C (p.Gly1702Arg)
c.4078G>C (p.Gly1360Arg)
c.3659G>C
c.3220G>C (p.Gly1074Arg)
c.*1037G>C (n.*1037G>C)
c.4373G>C
c.3949G>C (p.Gly1317Arg)
c.5146G>C (p.Gly1716Arg)
c.5143G>C (p.Gly1715Arg)
c.5098G>C (p.Gly1700Arg)
c.4222G>C (p.Gly1408Arg)
c.3991G>C (p.Gly1331Arg)
10g.94293576G>TCA377640705PLCE1c.4180G>T (p.Gly1394Cys)
c.*1647G>T (n.*1647G>T)
n.1839G>T
n.523G>T
c.*388G>T (n.*388G>T)
c.4132G>T (p.Gly1378Cys)
n.9312G>T
n.2777G>T
c.5036-4803G>T (n.5036-4803G>T)
c.5056G>T (p.Gly1686Cys)
c.5104G>T (p.Gly1702Cys)
c.4078G>T (p.Gly1360Cys)
c.3659G>T
c.3220G>T (p.Gly1074Cys)
c.*1037G>T (n.*1037G>T)
c.4373G>T
c.3949G>T (p.Gly1317Cys)
c.5146G>T (p.Gly1716Cys)
c.5143G>T (p.Gly1715Cys)
c.5098G>T (p.Gly1700Cys)
c.4222G>T (p.Gly1408Cys)
c.3991G>T (p.Gly1331Cys)
10g.94293577G>ACA377640707PLCE1c.4181G>A (p.Gly1394Asp)
c.*1648G>A (n.*1648G>A)
n.1840G>A
n.524G>A
c.*389G>A (n.*389G>A)
c.4133G>A (p.Gly1378Asp)
n.9313G>A
n.2778G>A
c.5036-4802G>A (n.5036-4802G>A)
c.5057G>A (p.Gly1686Asp)
c.5105G>A (p.Gly1702Asp)
c.4079G>A (p.Gly1360Asp)
c.3660G>A
c.3221G>A (p.Gly1074Asp)
c.*1038G>A (n.*1038G>A)
c.4374G>A
c.3950G>A (p.Gly1317Asp)
c.5147G>A (p.Gly1716Asp)
c.5144G>A (p.Gly1715Asp)
c.5099G>A (p.Gly1700Asp)
c.4223G>A (p.Gly1408Asp)
c.3992G>A (p.Gly1331Asp)
10g.94293577G>CCA377640709PLCE1c.4181G>C (p.Gly1394Ala)
c.*1648G>C (n.*1648G>C)
n.1840G>C
n.524G>C
c.*389G>C (n.*389G>C)
c.4133G>C (p.Gly1378Ala)
n.9313G>C
n.2778G>C
c.5036-4802G>C (n.5036-4802G>C)
c.5057G>C (p.Gly1686Ala)
c.5105G>C (p.Gly1702Ala)
c.4079G>C (p.Gly1360Ala)
c.3660G>C
c.3221G>C (p.Gly1074Ala)
c.*1038G>C (n.*1038G>C)
c.4374G>C
c.3950G>C (p.Gly1317Ala)
c.5147G>C (p.Gly1716Ala)
c.5144G>C (p.Gly1715Ala)
c.5099G>C (p.Gly1700Ala)
c.4223G>C (p.Gly1408Ala)
c.3992G>C (p.Gly1331Ala)
10g.94293577G>TCA377640710PLCE1c.4181G>T (p.Gly1394Val)
c.*1648G>T (n.*1648G>T)
n.1840G>T
n.524G>T
c.*389G>T (n.*389G>T)
c.4133G>T (p.Gly1378Val)
n.9313G>T
n.2778G>T
c.5036-4802G>T (n.5036-4802G>T)
c.5057G>T (p.Gly1686Val)
c.5105G>T (p.Gly1702Val)
c.4079G>T (p.Gly1360Val)
c.3660G>T
c.3221G>T (p.Gly1074Val)
c.*1038G>T (n.*1038G>T)
c.4374G>T
c.3950G>T (p.Gly1317Val)
c.5147G>T (p.Gly1716Val)
c.5144G>T (p.Gly1715Val)
c.5099G>T (p.Gly1700Val)
c.4223G>T (p.Gly1408Val)
c.3992G>T (p.Gly1331Val)
10g.94293578C>ACA470807541PLCE1c.4182C>A (p.Gly1394=)
c.*1649C>A (n.*1649C>A)
n.1841C>A
n.525C>A
c.*390C>A (n.*390C>A)
c.4134C>A (p.Gly1378=)
n.9314C>A
n.2779C>A
c.5036-4801C>A (n.5036-4801C>A)
c.5058C>A (p.Gly1686=)
c.5106C>A (p.Gly1702=)
c.4080C>A (p.Gly1360=)
c.3661C>A
c.3222C>A (p.Gly1074=)
c.*1039C>A (n.*1039C>A)
c.4375C>A
c.3951C>A (p.Gly1317=)
c.5148C>A (p.Gly1716=)
c.5145C>A (p.Gly1715=)
c.5100C>A (p.Gly1700=)
c.4224C>A (p.Gly1408=)
c.3993C>A (p.Gly1331=)
10g.94293578C>GCA470807543PLCE1c.4182C>G (p.Gly1394=)
c.*1649C>G (n.*1649C>G)
n.1841C>G
n.525C>G
c.*390C>G (n.*390C>G)
c.4134C>G (p.Gly1378=)
n.9314C>G
n.2779C>G
c.5036-4801C>G (n.5036-4801C>G)
c.5058C>G (p.Gly1686=)
c.5106C>G (p.Gly1702=)
c.4080C>G (p.Gly1360=)
c.3661C>G
c.3222C>G (p.Gly1074=)
c.*1039C>G (n.*1039C>G)
c.4375C>G
c.3951C>G (p.Gly1317=)
c.5148C>G (p.Gly1716=)
c.5145C>G (p.Gly1715=)
c.5100C>G (p.Gly1700=)
c.4224C>G (p.Gly1408=)
c.3993C>G (p.Gly1331=)
10g.94293578C>TCA470807544PLCE1c.4182C>T (p.Gly1394=)
c.*1649C>T (n.*1649C>T)
n.1841C>T
n.525C>T
c.*390C>T (n.*390C>T)
c.4134C>T (p.Gly1378=)
n.9314C>T
n.2779C>T
c.5036-4801C>T (n.5036-4801C>T)
c.5058C>T (p.Gly1686=)
c.5106C>T (p.Gly1702=)
c.4080C>T (p.Gly1360=)
c.3661C>T
c.3222C>T (p.Gly1074=)
c.*1039C>T (n.*1039C>T)
c.4375C>T
c.3951C>T (p.Gly1317=)
c.5148C>T (p.Gly1716=)
c.5145C>T (p.Gly1715=)
c.5100C>T (p.Gly1700=)
c.4224C>T (p.Gly1408=)
c.3993C>T (p.Gly1331=)
10g.94293579A>CCA377640713PLCE1c.4183A>C (p.Asn1395His)
c.*1650A>C (n.*1650A>C)
n.1842A>C
n.526A>C
c.*391A>C (n.*391A>C)
c.4135A>C (p.Asn1379His)
n.9315A>C
n.2780A>C
c.5036-4800A>C (n.5036-4800A>C)
c.5059A>C (p.Asn1687His)
c.5107A>C (p.Asn1703His)
c.4081A>C (p.Asn1361His)
c.3662A>C
c.3223A>C (p.Asn1075His)
c.*1040A>C (n.*1040A>C)
c.4376A>C
c.3952A>C (p.Asn1318His)
c.5149A>C (p.Asn1717His)
c.5146A>C (p.Asn1716His)
c.5101A>C (p.Asn1701His)
c.4225A>C (p.Asn1409His)
c.3994A>C (p.Asn1332His)
10g.94293579A>GCA377640715PLCE1c.4183A>G (p.Asn1395Asp)
c.*1650A>G (n.*1650A>G)
n.1842A>G
n.526A>G
c.*391A>G (n.*391A>G)
c.4135A>G (p.Asn1379Asp)
n.9315A>G
n.2780A>G
c.5036-4800A>G (n.5036-4800A>G)
c.5059A>G (p.Asn1687Asp)
c.5107A>G (p.Asn1703Asp)
c.4081A>G (p.Asn1361Asp)
c.3662A>G
c.3223A>G (p.Asn1075Asp)
c.*1040A>G (n.*1040A>G)
c.4376A>G
c.3952A>G (p.Asn1318Asp)
c.5149A>G (p.Asn1717Asp)
c.5146A>G (p.Asn1716Asp)
c.5101A>G (p.Asn1701Asp)
c.4225A>G (p.Asn1409Asp)
c.3994A>G (p.Asn1332Asp)
10g.94293579A>TCA377640716PLCE1c.4183A>T (p.Asn1395Tyr)
c.*1650A>T (n.*1650A>T)
n.1842A>T
n.526A>T
c.*391A>T (n.*391A>T)
c.4135A>T (p.Asn1379Tyr)
n.9315A>T
n.2780A>T
c.5036-4800A>T (n.5036-4800A>T)
c.5059A>T (p.Asn1687Tyr)
c.5107A>T (p.Asn1703Tyr)
c.4081A>T (p.Asn1361Tyr)
c.3662A>T
c.3223A>T (p.Asn1075Tyr)
c.*1040A>T (n.*1040A>T)
c.4376A>T
c.3952A>T (p.Asn1318Tyr)
c.5149A>T (p.Asn1717Tyr)
c.5146A>T (p.Asn1716Tyr)
c.5101A>T (p.Asn1701Tyr)
c.4225A>T (p.Asn1409Tyr)
c.3994A>T (p.Asn1332Tyr)
10g.94293580A>CCA377640719PLCE1c.4184A>C (p.Asn1395Thr)
c.*1651A>C (n.*1651A>C)
n.1843A>C
n.527A>C
c.*392A>C (n.*392A>C)
c.4136A>C (p.Asn1379Thr)
n.9316A>C
n.2781A>C
c.5036-4799A>C (n.5036-4799A>C)
c.5060A>C (p.Asn1687Thr)
c.5108A>C (p.Asn1703Thr)
c.4082A>C (p.Asn1361Thr)
c.3663A>C
c.3224A>C (p.Asn1075Thr)
c.*1041A>C (n.*1041A>C)
c.4377A>C
c.3953A>C (p.Asn1318Thr)
c.5150A>C (p.Asn1717Thr)
c.5147A>C (p.Asn1716Thr)
c.5102A>C (p.Asn1701Thr)
c.4226A>C (p.Asn1409Thr)
c.3995A>C (p.Asn1332Thr)
10g.94293580A>GCA377640722PLCE1c.4184A>G (p.Asn1395Ser)
c.*1651A>G (n.*1651A>G)
n.1843A>G
n.527A>G
c.*392A>G (n.*392A>G)
c.4136A>G (p.Asn1379Ser)
n.9316A>G
n.2781A>G
c.5036-4799A>G (n.5036-4799A>G)
c.5060A>G (p.Asn1687Ser)
c.5108A>G (p.Asn1703Ser)
c.4082A>G (p.Asn1361Ser)
c.3663A>G
c.3224A>G (p.Asn1075Ser)
c.*1041A>G (n.*1041A>G)
c.4377A>G
c.3953A>G (p.Asn1318Ser)
c.5150A>G (p.Asn1717Ser)
c.5147A>G (p.Asn1716Ser)
c.5102A>G (p.Asn1701Ser)
c.4226A>G (p.Asn1409Ser)
c.3995A>G (p.Asn1332Ser)
 gnomAD v4
10g.94293580A>TCA377640720PLCE1c.4184A>T (p.Asn1395Ile)
c.*1651A>T (n.*1651A>T)
n.1843A>T
n.527A>T
c.*392A>T (n.*392A>T)
c.4136A>T (p.Asn1379Ile)
n.9316A>T
n.2781A>T
c.5036-4799A>T (n.5036-4799A>T)
c.5060A>T (p.Asn1687Ile)
c.5108A>T (p.Asn1703Ile)
c.4082A>T (p.Asn1361Ile)
c.3663A>T
c.3224A>T (p.Asn1075Ile)
c.*1041A>T (n.*1041A>T)
c.4377A>T
c.3953A>T (p.Asn1318Ile)
c.5150A>T (p.Asn1717Ile)
c.5147A>T (p.Asn1716Ile)
c.5102A>T (p.Asn1701Ile)
c.4226A>T (p.Asn1409Ile)
c.3995A>T (p.Asn1332Ile)
 gnomAD v4
10g.94293581C>ACA377640723PLCE1c.4185C>A (p.Asn1395Lys)
c.*1652C>A (n.*1652C>A)
n.1844C>A
n.528C>A
c.*393C>A (n.*393C>A)
c.4137C>A (p.Asn1379Lys)
n.9317C>A
n.2782C>A
c.5036-4798C>A (n.5036-4798C>A)
c.5061C>A (p.Asn1687Lys)
c.5109C>A (p.Asn1703Lys)
c.4083C>A (p.Asn1361Lys)
c.3664C>A
c.3225C>A (p.Asn1075Lys)
c.*1042C>A (n.*1042C>A)
c.4378C>A
c.3954C>A (p.Asn1318Lys)
c.5151C>A (p.Asn1717Lys)
c.5148C>A (p.Asn1716Lys)
c.5103C>A (p.Asn1701Lys)
c.4227C>A (p.Asn1409Lys)
c.3996C>A (p.Asn1332Lys)
10g.94293581C=CA1928996193PLCE1c.4185C= (p.Asn1395=)
c.*1652C= (n.*1652C=)
n.1844C=
n.528C=
c.*393C= (n.*393C=)
c.4137C= (p.Asn1379=)
n.9317C=
n.2782C=
c.5036-4798C= (n.5036-4798C=)
c.5061C= (p.Asn1687=)
c.5109C= (p.Asn1703=)
c.4083C= (p.Asn1361=)
c.3664C=
c.3225C= (p.Asn1075=)
c.*1042C= (n.*1042C=)
c.4378C=
c.3954C= (p.Asn1318=)
c.5151C= (p.Asn1717=)
c.5148C= (p.Asn1716=)
c.5103C= (p.Asn1701=)
c.4227C= (p.Asn1409=)
c.3996C= (p.Asn1332=)
10g.94293581C>GCA377640725PLCE1c.4185C>G (p.Asn1395Lys)
c.*1652C>G (n.*1652C>G)
n.1844C>G
n.528C>G
c.*393C>G (n.*393C>G)
c.4137C>G (p.Asn1379Lys)
n.9317C>G
n.2782C>G
c.5036-4798C>G (n.5036-4798C>G)
c.5061C>G (p.Asn1687Lys)
c.5109C>G (p.Asn1703Lys)
c.4083C>G (p.Asn1361Lys)
c.3664C>G
c.3225C>G (p.Asn1075Lys)
c.*1042C>G (n.*1042C>G)
c.4378C>G
c.3954C>G (p.Asn1318Lys)
c.5151C>G (p.Asn1717Lys)
c.5148C>G (p.Asn1716Lys)
c.5103C>G (p.Asn1701Lys)
c.4227C>G (p.Asn1409Lys)
c.3996C>G (p.Asn1332Lys)
10g.94293581C>TCA470807552PLCE1c.4185C>T (p.Asn1395=)
c.*1652C>T (n.*1652C>T)
n.1844C>T
n.528C>T
c.*393C>T (n.*393C>T)
c.4137C>T (p.Asn1379=)
n.9317C>T
n.2782C>T
c.5036-4798C>T (n.5036-4798C>T)
c.5061C>T (p.Asn1687=)
c.5109C>T (p.Asn1703=)
c.4083C>T (p.Asn1361=)
c.3664C>T
c.3225C>T (p.Asn1075=)
c.*1042C>T (n.*1042C>T)
c.4378C>T
c.3954C>T (p.Asn1318=)
c.5151C>T (p.Asn1717=)
c.5148C>T (p.Asn1716=)
c.5103C>T (p.Asn1701=)
c.4227C>T (p.Asn1409=)
c.3996C>T (p.Asn1332=)
 dbSNP gnomAD v3 gnomAD v4
10g.94293582A>CCA377640727PLCE1c.4186A>C (p.Asn1396His)
c.*1653A>C (n.*1653A>C)
n.1845A>C
n.529A>C
c.*394A>C (n.*394A>C)
c.4138A>C (p.Asn1380His)
n.9318A>C
n.2783A>C
c.5036-4797A>C (n.5036-4797A>C)
c.5062A>C (p.Asn1688His)
c.5110A>C (p.Asn1704His)
c.4084A>C (p.Asn1362His)
c.3665A>C
c.3226A>C (p.Asn1076His)
c.*1043A>C (n.*1043A>C)
c.4379A>C
c.3955A>C (p.Asn1319His)
c.5152A>C (p.Asn1718His)
c.5149A>C (p.Asn1717His)
c.5104A>C (p.Asn1702His)
c.4228A>C (p.Asn1410His)
c.3997A>C (p.Asn1333His)
10g.94293582A>GCA377640729PLCE1c.4186A>G (p.Asn1396Asp)
c.*1653A>G (n.*1653A>G)
n.1845A>G
n.529A>G
c.*394A>G (n.*394A>G)
c.4138A>G (p.Asn1380Asp)
n.9318A>G
n.2783A>G
c.5036-4797A>G (n.5036-4797A>G)
c.5062A>G (p.Asn1688Asp)
c.5110A>G (p.Asn1704Asp)
c.4084A>G (p.Asn1362Asp)
c.3665A>G
c.3226A>G (p.Asn1076Asp)
c.*1043A>G (n.*1043A>G)
c.4379A>G
c.3955A>G (p.Asn1319Asp)
c.5152A>G (p.Asn1718Asp)
c.5149A>G (p.Asn1717Asp)
c.5104A>G (p.Asn1702Asp)
c.4228A>G (p.Asn1410Asp)
c.3997A>G (p.Asn1333Asp)
10g.94293582A>TCA377640731PLCE1c.4186A>T (p.Asn1396Tyr)
c.*1653A>T (n.*1653A>T)
n.1845A>T
n.529A>T
c.*394A>T (n.*394A>T)
c.4138A>T (p.Asn1380Tyr)
n.9318A>T
n.2783A>T
c.5036-4797A>T (n.5036-4797A>T)
c.5062A>T (p.Asn1688Tyr)
c.5110A>T (p.Asn1704Tyr)
c.4084A>T (p.Asn1362Tyr)
c.3665A>T
c.3226A>T (p.Asn1076Tyr)
c.*1043A>T (n.*1043A>T)
c.4379A>T
c.3955A>T (p.Asn1319Tyr)
c.5152A>T (p.Asn1718Tyr)
c.5149A>T (p.Asn1717Tyr)
c.5104A>T (p.Asn1702Tyr)
c.4228A>T (p.Asn1410Tyr)
c.3997A>T (p.Asn1333Tyr)
10g.94293583A=CA1928996194PLCE1c.4187A= (p.Asn1396=)
c.*1654A= (n.*1654A=)
n.1846A=
n.530A=
c.*395A= (n.*395A=)
c.4139A= (p.Asn1380=)
n.9319A=
n.2784A=
c.5036-4796A= (n.5036-4796A=)
c.5063A= (p.Asn1688=)
c.5111A= (p.Asn1704=)
c.4085A= (p.Asn1362=)
c.3666A=
c.3227A= (p.Asn1076=)
c.*1044A= (n.*1044A=)
c.4380A=
c.3956A= (p.Asn1319=)
c.5153A= (p.Asn1718=)
c.5150A= (p.Asn1717=)
c.5105A= (p.Asn1702=)
c.4229A= (p.Asn1410=)
c.3998A= (p.Asn1333=)
10g.94293583A>CCA377640733PLCE1c.4187A>C (p.Asn1396Thr)
c.*1654A>C (n.*1654A>C)
n.1846A>C
n.530A>C
c.*395A>C (n.*395A>C)
c.4139A>C (p.Asn1380Thr)
n.9319A>C
n.2784A>C
c.5036-4796A>C (n.5036-4796A>C)
c.5063A>C (p.Asn1688Thr)
c.5111A>C (p.Asn1704Thr)
c.4085A>C (p.Asn1362Thr)
c.3666A>C
c.3227A>C (p.Asn1076Thr)
c.*1044A>C (n.*1044A>C)
c.4380A>C
c.3956A>C (p.Asn1319Thr)
c.5153A>C (p.Asn1718Thr)
c.5150A>C (p.Asn1717Thr)
c.5105A>C (p.Asn1702Thr)
c.4229A>C (p.Asn1410Thr)
c.3998A>C (p.Asn1333Thr)
10g.94293583A>GCA5613287PLCE1c.4187A>G (p.Asn1396Ser)
c.*1654A>G (n.*1654A>G)
n.1846A>G
n.530A>G
c.*395A>G (n.*395A>G)
c.4139A>G (p.Asn1380Ser)
n.9319A>G
n.2784A>G
c.5036-4796A>G (n.5036-4796A>G)
c.5063A>G (p.Asn1688Ser)
c.5111A>G (p.Asn1704Ser)
c.4085A>G (p.Asn1362Ser)
c.3666A>G
c.3227A>G (p.Asn1076Ser)
c.*1044A>G (n.*1044A>G)
c.4380A>G
c.3956A>G (p.Asn1319Ser)
c.5153A>G (p.Asn1718Ser)
c.5150A>G (p.Asn1717Ser)
c.5105A>G (p.Asn1702Ser)
c.4229A>G (p.Asn1410Ser)
c.3998A>G (p.Asn1333Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94293583A>TCA377640736PLCE1c.4187A>T (p.Asn1396Ile)
c.*1654A>T (n.*1654A>T)
n.1846A>T
n.530A>T
c.*395A>T (n.*395A>T)
c.4139A>T (p.Asn1380Ile)
n.9319A>T
n.2784A>T
c.5036-4796A>T (n.5036-4796A>T)
c.5063A>T (p.Asn1688Ile)
c.5111A>T (p.Asn1704Ile)
c.4085A>T (p.Asn1362Ile)
c.3666A>T
c.3227A>T (p.Asn1076Ile)
c.*1044A>T (n.*1044A>T)
c.4380A>T
c.3956A>T (p.Asn1319Ile)
c.5153A>T (p.Asn1718Ile)
c.5150A>T (p.Asn1717Ile)
c.5105A>T (p.Asn1702Ile)
c.4229A>T (p.Asn1410Ile)
c.3998A>T (p.Asn1333Ile)
10g.94293584T>ACA377640738PLCE1c.4188T>A (p.Asn1396Lys)
c.*1655T>A (n.*1655T>A)
n.1847T>A
n.531T>A
c.*396T>A (n.*396T>A)
c.4140T>A (p.Asn1380Lys)
n.9320T>A
n.2785T>A
c.5036-4795T>A (n.5036-4795T>A)
c.5064T>A (p.Asn1688Lys)
c.5112T>A (p.Asn1704Lys)
c.4086T>A (p.Asn1362Lys)
c.3667T>A
c.3228T>A (p.Asn1076Lys)
c.*1045T>A (n.*1045T>A)
c.4381T>A
c.3957T>A (p.Asn1319Lys)
c.5154T>A (p.Asn1718Lys)
c.5151T>A (p.Asn1717Lys)
c.5106T>A (p.Asn1702Lys)
c.4230T>A (p.Asn1410Lys)
c.3999T>A (p.Asn1333Lys)
10g.94293584T>CCA470807560PLCE1c.4188T>C (p.Asn1396=)
c.*1655T>C (n.*1655T>C)
n.1847T>C
n.531T>C
c.*396T>C (n.*396T>C)
c.4140T>C (p.Asn1380=)
n.9320T>C
n.2785T>C
c.5036-4795T>C (n.5036-4795T>C)
c.5064T>C (p.Asn1688=)
c.5112T>C (p.Asn1704=)
c.4086T>C (p.Asn1362=)
c.3667T>C
c.3228T>C (p.Asn1076=)
c.*1045T>C (n.*1045T>C)
c.4381T>C
c.3957T>C (p.Asn1319=)
c.5154T>C (p.Asn1718=)
c.5151T>C (p.Asn1717=)
c.5106T>C (p.Asn1702=)
c.4230T>C (p.Asn1410=)
c.3999T>C (p.Asn1333=)
 dbSNP gnomAD v2 gnomAD v4
10g.94293584T>GCA377640740PLCE1c.4188T>G (p.Asn1396Lys)
c.*1655T>G (n.*1655T>G)
n.1847T>G
n.531T>G
c.*396T>G (n.*396T>G)
c.4140T>G (p.Asn1380Lys)
n.9320T>G
n.2785T>G
c.5036-4795T>G (n.5036-4795T>G)
c.5064T>G (p.Asn1688Lys)
c.5112T>G (p.Asn1704Lys)
c.4086T>G (p.Asn1362Lys)
c.3667T>G
c.3228T>G (p.Asn1076Lys)
c.*1045T>G (n.*1045T>G)
c.4381T>G
c.3957T>G (p.Asn1319Lys)
c.5154T>G (p.Asn1718Lys)
c.5151T>G (p.Asn1717Lys)
c.5106T>G (p.Asn1702Lys)
c.4230T>G (p.Asn1410Lys)
c.3999T>G (p.Asn1333Lys)
 gnomAD v4
10g.94293584T=CA1928996195PLCE1c.4188T= (p.Asn1396=)
c.*1655T= (n.*1655T=)
n.1847T=
n.531T=
c.*396T= (n.*396T=)
c.4140T= (p.Asn1380=)
n.9320T=
n.2785T=
c.5036-4795T= (n.5036-4795T=)
c.5064T= (p.Asn1688=)
c.5112T= (p.Asn1704=)
c.4086T= (p.Asn1362=)
c.3667T=
c.3228T= (p.Asn1076=)
c.*1045T= (n.*1045T=)
c.4381T=
c.3957T= (p.Asn1319=)
c.5154T= (p.Asn1718=)
c.5151T= (p.Asn1717=)
c.5106T= (p.Asn1702=)
c.4230T= (p.Asn1410=)
c.3999T= (p.Asn1333=)
10g.94293585C>ACA377640742PLCE1c.4189C>A (p.Pro1397Thr)
c.*1656C>A (n.*1656C>A)
n.1848C>A
n.532C>A
c.*397C>A (n.*397C>A)
c.4141C>A (p.Pro1381Thr)
n.9321C>A
n.2786C>A
c.5036-4794C>A (n.5036-4794C>A)
c.5065C>A (p.Pro1689Thr)
c.5113C>A (p.Pro1705Thr)
c.4087C>A (p.Pro1363Thr)
c.3668C>A
c.3229C>A (p.Pro1077Thr)
c.*1046C>A (n.*1046C>A)
c.4382C>A
c.3958C>A (p.Pro1320Thr)
c.5155C>A (p.Pro1719Thr)
c.5152C>A (p.Pro1718Thr)
c.5107C>A (p.Pro1703Thr)
c.4231C>A (p.Pro1411Thr)
c.4000C>A (p.Pro1334Thr)
10g.94293585C=CA1928996196PLCE1c.4189C= (p.Pro1397=)
c.*1656C= (n.*1656C=)
n.1848C=
n.532C=
c.*397C= (n.*397C=)
c.4141C= (p.Pro1381=)
n.9321C=
n.2786C=
c.5036-4794C= (n.5036-4794C=)
c.5065C= (p.Pro1689=)
c.5113C= (p.Pro1705=)
c.4087C= (p.Pro1363=)
c.3668C=
c.3229C= (p.Pro1077=)
c.*1046C= (n.*1046C=)
c.4382C=
c.3958C= (p.Pro1320=)
c.5155C= (p.Pro1719=)
c.5152C= (p.Pro1718=)
c.5107C= (p.Pro1703=)
c.4231C= (p.Pro1411=)
c.4000C= (p.Pro1334=)
10g.94293585C>GCA377640744PLCE1c.4189C>G (p.Pro1397Ala)
c.*1656C>G (n.*1656C>G)
n.1848C>G
n.532C>G
c.*397C>G (n.*397C>G)
c.4141C>G (p.Pro1381Ala)
n.9321C>G
n.2786C>G
c.5036-4794C>G (n.5036-4794C>G)
c.5065C>G (p.Pro1689Ala)
c.5113C>G (p.Pro1705Ala)
c.4087C>G (p.Pro1363Ala)
c.3668C>G
c.3229C>G (p.Pro1077Ala)
c.*1046C>G (n.*1046C>G)
c.4382C>G
c.3958C>G (p.Pro1320Ala)
c.5155C>G (p.Pro1719Ala)
c.5152C>G (p.Pro1718Ala)
c.5107C>G (p.Pro1703Ala)
c.4231C>G (p.Pro1411Ala)
c.4000C>G (p.Pro1334Ala)
 dbSNP gnomAD v2 gnomAD v4
10g.94293585C>TCA377640746PLCE1c.4189C>T (p.Pro1397Ser)
c.*1656C>T (n.*1656C>T)
n.1848C>T
n.532C>T
c.*397C>T (n.*397C>T)
c.4141C>T (p.Pro1381Ser)
n.9321C>T
n.2786C>T
c.5036-4794C>T (n.5036-4794C>T)
c.5065C>T (p.Pro1689Ser)
c.5113C>T (p.Pro1705Ser)
c.4087C>T (p.Pro1363Ser)
c.3668C>T
c.3229C>T (p.Pro1077Ser)
c.*1046C>T (n.*1046C>T)
c.4382C>T
c.3958C>T (p.Pro1320Ser)
c.5155C>T (p.Pro1719Ser)
c.5152C>T (p.Pro1718Ser)
c.5107C>T (p.Pro1703Ser)
c.4231C>T (p.Pro1411Ser)
c.4000C>T (p.Pro1334Ser)
10g.94293586C>ACA377640750PLCE1c.4190C>A (p.Pro1397Gln)
c.*1657C>A (n.*1657C>A)
n.1849C>A
n.533C>A
c.*398C>A (n.*398C>A)
c.4142C>A (p.Pro1381Gln)
n.9322C>A
n.2787C>A
c.5036-4793C>A (n.5036-4793C>A)
c.5066C>A (p.Pro1689Gln)
c.5114C>A (p.Pro1705Gln)
c.4088C>A (p.Pro1363Gln)
c.3669C>A
c.3230C>A (p.Pro1077Gln)
c.*1047C>A (n.*1047C>A)
c.4383C>A
c.3959C>A (p.Pro1320Gln)
c.5156C>A (p.Pro1719Gln)
c.5153C>A (p.Pro1718Gln)
c.5108C>A (p.Pro1703Gln)
c.4232C>A (p.Pro1411Gln)
c.4001C>A (p.Pro1334Gln)
 dbSNP gnomAD v3 gnomAD v4
10g.94293586C=CA1928996197PLCE1c.4190C= (p.Pro1397=)
c.*1657C= (n.*1657C=)
n.1849C=
n.533C=
c.*398C= (n.*398C=)
c.4142C= (p.Pro1381=)
n.9322C=
n.2787C=
c.5036-4793C= (n.5036-4793C=)
c.5066C= (p.Pro1689=)
c.5114C= (p.Pro1705=)
c.4088C= (p.Pro1363=)
c.3669C=
c.3230C= (p.Pro1077=)
c.*1047C= (n.*1047C=)
c.4383C=
c.3959C= (p.Pro1320=)
c.5156C= (p.Pro1719=)
c.5153C= (p.Pro1718=)
c.5108C= (p.Pro1703=)
c.4232C= (p.Pro1411=)
c.4001C= (p.Pro1334=)
10g.94293586C>GCA377640748PLCE1c.4190C>G (p.Pro1397Arg)
c.*1657C>G (n.*1657C>G)
n.1849C>G
n.533C>G
c.*398C>G (n.*398C>G)
c.4142C>G (p.Pro1381Arg)
n.9322C>G
n.2787C>G
c.5036-4793C>G (n.5036-4793C>G)
c.5066C>G (p.Pro1689Arg)
c.5114C>G (p.Pro1705Arg)
c.4088C>G (p.Pro1363Arg)
c.3669C>G
c.3230C>G (p.Pro1077Arg)
c.*1047C>G (n.*1047C>G)
c.4383C>G
c.3959C>G (p.Pro1320Arg)
c.5156C>G (p.Pro1719Arg)
c.5153C>G (p.Pro1718Arg)
c.5108C>G (p.Pro1703Arg)
c.4232C>G (p.Pro1411Arg)
c.4001C>G (p.Pro1334Arg)
10g.94293586C>TCA5613288PLCE1c.4190C>T (p.Pro1397Leu)
c.*1657C>T (n.*1657C>T)
n.1849C>T
n.533C>T
c.*398C>T (n.*398C>T)
c.4142C>T (p.Pro1381Leu)
n.9322C>T
n.2787C>T
c.5036-4793C>T (n.5036-4793C>T)
c.5066C>T (p.Pro1689Leu)
c.5114C>T (p.Pro1705Leu)
c.4088C>T (p.Pro1363Leu)
c.3669C>T
c.3230C>T (p.Pro1077Leu)
c.*1047C>T (n.*1047C>T)
c.4383C>T
c.3959C>T (p.Pro1320Leu)
c.5156C>T (p.Pro1719Leu)
c.5153C>T (p.Pro1718Leu)
c.5108C>T (p.Pro1703Leu)
c.4232C>T (p.Pro1411Leu)
c.4001C>T (p.Pro1334Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94293587G>ACA5613289PLCE1c.4191G>A (p.Pro1397=)
c.*1658G>A (n.*1658G>A)
n.1850G>A
n.534G>A
c.*399G>A (n.*399G>A)
c.4143G>A (p.Pro1381=)
n.9323G>A
n.2788G>A
c.5036-4792G>A (n.5036-4792G>A)
c.5067G>A (p.Pro1689=)
c.5115G>A (p.Pro1705=)
c.4089G>A (p.Pro1363=)
c.3670G>A
c.3231G>A (p.Pro1077=)
c.*1048G>A (n.*1048G>A)
c.4384G>A
c.3960G>A (p.Pro1320=)
c.5157G>A (p.Pro1719=)
c.5154G>A (p.Pro1718=)
c.5109G>A (p.Pro1703=)
c.4233G>A (p.Pro1411=)
c.4002G>A (p.Pro1334=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
10g.94293587G>CCA470807570PLCE1c.4191G>C (p.Pro1397=)
c.*1658G>C (n.*1658G>C)
n.1850G>C
n.534G>C
c.*399G>C (n.*399G>C)
c.4143G>C (p.Pro1381=)
n.9323G>C
n.2788G>C
c.5036-4792G>C (n.5036-4792G>C)
c.5067G>C (p.Pro1689=)
c.5115G>C (p.Pro1705=)
c.4089G>C (p.Pro1363=)
c.3670G>C
c.3231G>C (p.Pro1077=)
c.*1048G>C (n.*1048G>C)
c.4384G>C
c.3960G>C (p.Pro1320=)
c.5157G>C (p.Pro1719=)
c.5154G>C (p.Pro1718=)
c.5109G>C (p.Pro1703=)
c.4233G>C (p.Pro1411=)
c.4002G>C (p.Pro1334=)

Number of alleles fetched