Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.94298389A=CA1928998368PLCE1c.4254A= (p.Glu1418=)
c.*1721A= (n.*1721A=)
n.1913A=
n.597A=
c.*462A= (n.*462A=)
c.4206A= (p.Glu1402=)
n.9386A=
n.2851A=
c.5046A= (p.Glu1682=)
c.5130A= (p.Glu1710=)
c.5178A= (p.Glu1726=)
c.4152A= (p.Glu1384=)
c.3733A=
c.3294A= (p.Glu1098=)
c.*1111A= (n.*1111A=)
c.4447A=
c.4023A= (p.Glu1341=)
c.5220A= (p.Glu1740=)
c.5217A= (p.Glu1739=)
c.5172A= (p.Glu1724=)
c.4296A= (p.Glu1432=)
c.4065A= (p.Glu1355=)
10g.94298389A>CCA377641673PLCE1c.4254A>C (p.Glu1418Asp)
c.*1721A>C (n.*1721A>C)
n.1913A>C
n.597A>C
c.*462A>C (n.*462A>C)
c.4206A>C (p.Glu1402Asp)
n.9386A>C
n.2851A>C
c.5046A>C (p.Glu1682Asp)
c.5130A>C (p.Glu1710Asp)
c.5178A>C (p.Glu1726Asp)
c.4152A>C (p.Glu1384Asp)
c.3733A>C
c.3294A>C (p.Glu1098Asp)
c.*1111A>C (n.*1111A>C)
c.4447A>C
c.4023A>C (p.Glu1341Asp)
c.5220A>C (p.Glu1740Asp)
c.5217A>C (p.Glu1739Asp)
c.5172A>C (p.Glu1724Asp)
c.4296A>C (p.Glu1432Asp)
c.4065A>C (p.Glu1355Asp)
10g.94298389A>GCA470807920PLCE1c.4254A>G (p.Glu1418=)
c.*1721A>G (n.*1721A>G)
n.1913A>G
n.597A>G
c.*462A>G (n.*462A>G)
c.4206A>G (p.Glu1402=)
n.9386A>G
n.2851A>G
c.5046A>G (p.Glu1682=)
c.5130A>G (p.Glu1710=)
c.5178A>G (p.Glu1726=)
c.4152A>G (p.Glu1384=)
c.3733A>G
c.3294A>G (p.Glu1098=)
c.*1111A>G (n.*1111A>G)
c.4447A>G
c.4023A>G (p.Glu1341=)
c.5220A>G (p.Glu1740=)
c.5217A>G (p.Glu1739=)
c.5172A>G (p.Glu1724=)
c.4296A>G (p.Glu1432=)
c.4065A>G (p.Glu1355=)
dbSNP gnomAD v3 gnomAD v4
10g.94298389A>TCA377641674PLCE1c.4254A>T (p.Glu1418Asp)
c.*1721A>T (n.*1721A>T)
n.1913A>T
n.597A>T
c.*462A>T (n.*462A>T)
c.4206A>T (p.Glu1402Asp)
n.9386A>T
n.2851A>T
c.5046A>T (p.Glu1682Asp)
c.5130A>T (p.Glu1710Asp)
c.5178A>T (p.Glu1726Asp)
c.4152A>T (p.Glu1384Asp)
c.3733A>T
c.3294A>T (p.Glu1098Asp)
c.*1111A>T (n.*1111A>T)
c.4447A>T
c.4023A>T (p.Glu1341Asp)
c.5220A>T (p.Glu1740Asp)
c.5217A>T (p.Glu1739Asp)
c.5172A>T (p.Glu1724Asp)
c.4296A>T (p.Glu1432Asp)
c.4065A>T (p.Glu1355Asp)
10g.94298389_94298390insCACA645550158PLCE1c.4254_4255insCA (p.Gly1419GlnfsTer?)
c.*1721_*1722insCA (n.*1721_*1722insCA)
n.1913_1914insCA
n.597_598insCA
c.*462_*463insCA (n.*462_*463insCA)
c.4206_4207insCA (p.Gly1403GlnfsTer?)
n.9386_9387insCA
n.2851_2852insCA
c.5046_5047insCA (p.Gly1683GlnfsTer?)
c.5130_5131insCA (p.Gly1711GlnfsTer?)
c.5178_5179insCA (p.Gly1727GlnfsTer?)
c.4152_4153insCA (p.Gly1385GlnfsTer?)
c.3733_3734insCA
c.3294_3295insCA (p.Gly1099GlnfsTer?)
c.*1111_*1112insCA (n.*1111_*1112insCA)
c.4447_4448insCA
c.4023_4024insCA (p.Gly1342GlnfsTer?)
c.5220_5221insCA (p.Gly1741GlnfsTer?)
c.5217_5218insCA (p.Gly1740GlnfsTer?)
c.5172_5173insCA (p.Gly1725GlnfsTer?)
c.4296_4297insCA (p.Gly1433GlnfsTer?)
c.4065_4066insCA (p.Gly1356GlnfsTer?)
COSMIC COSMIC COSMIC COSMIC
10g.94298390G>ACA377641675PLCE1c.4255G>A (p.Gly1419Ser)
c.*1722G>A (n.*1722G>A)
n.1914G>A
n.598G>A
c.*463G>A (n.*463G>A)
c.4207G>A (p.Gly1403Ser)
n.9387G>A
n.2852G>A
c.5047G>A (p.Gly1683Ser)
c.5131G>A (p.Gly1711Ser)
c.5179G>A (p.Gly1727Ser)
c.4153G>A (p.Gly1385Ser)
c.3734G>A
c.3295G>A (p.Gly1099Ser)
c.*1112G>A (n.*1112G>A)
c.4448G>A
c.4024G>A (p.Gly1342Ser)
c.5221G>A (p.Gly1741Ser)
c.5218G>A (p.Gly1740Ser)
c.5173G>A (p.Gly1725Ser)
c.4297G>A (p.Gly1433Ser)
c.4066G>A (p.Gly1356Ser)
dbSNP gnomAD v4
10g.94298390G>CCA377641676PLCE1c.4255G>C (p.Gly1419Arg)
c.*1722G>C (n.*1722G>C)
n.1914G>C
n.598G>C
c.*463G>C (n.*463G>C)
c.4207G>C (p.Gly1403Arg)
n.9387G>C
n.2852G>C
c.5047G>C (p.Gly1683Arg)
c.5131G>C (p.Gly1711Arg)
c.5179G>C (p.Gly1727Arg)
c.4153G>C (p.Gly1385Arg)
c.3734G>C
c.3295G>C (p.Gly1099Arg)
c.*1112G>C (n.*1112G>C)
c.4448G>C
c.4024G>C (p.Gly1342Arg)
c.5221G>C (p.Gly1741Arg)
c.5218G>C (p.Gly1740Arg)
c.5173G>C (p.Gly1725Arg)
c.4297G>C (p.Gly1433Arg)
c.4066G>C (p.Gly1356Arg)
10g.94298390G=CA1928998369PLCE1c.4255G= (p.Gly1419=)
c.*1722G= (n.*1722G=)
n.1914G=
n.598G=
c.*463G= (n.*463G=)
c.4207G= (p.Gly1403=)
n.9387G=
n.2852G=
c.5047G= (p.Gly1683=)
c.5131G= (p.Gly1711=)
c.5179G= (p.Gly1727=)
c.4153G= (p.Gly1385=)
c.3734G=
c.3295G= (p.Gly1099=)
c.*1112G= (n.*1112G=)
c.4448G=
c.4024G= (p.Gly1342=)
c.5221G= (p.Gly1741=)
c.5218G= (p.Gly1740=)
c.5173G= (p.Gly1725=)
c.4297G= (p.Gly1433=)
c.4066G= (p.Gly1356=)
10g.94298390G>TCA377641677PLCE1c.4255G>T (p.Gly1419Cys)
c.*1722G>T (n.*1722G>T)
n.1914G>T
n.598G>T
c.*463G>T (n.*463G>T)
c.4207G>T (p.Gly1403Cys)
n.9387G>T
n.2852G>T
c.5047G>T (p.Gly1683Cys)
c.5131G>T (p.Gly1711Cys)
c.5179G>T (p.Gly1727Cys)
c.4153G>T (p.Gly1385Cys)
c.3734G>T
c.3295G>T (p.Gly1099Cys)
c.*1112G>T (n.*1112G>T)
c.4448G>T
c.4024G>T (p.Gly1342Cys)
c.5221G>T (p.Gly1741Cys)
c.5218G>T (p.Gly1740Cys)
c.5173G>T (p.Gly1725Cys)
c.4297G>T (p.Gly1433Cys)
c.4066G>T (p.Gly1356Cys)
10g.94298391G>ACA377641678PLCE1c.4256G>A (p.Gly1419Asp)
c.*1723G>A (n.*1723G>A)
n.1915G>A
n.599G>A
c.*464G>A (n.*464G>A)
c.4208G>A (p.Gly1403Asp)
n.9388G>A
n.2853G>A
c.5048G>A (p.Gly1683Asp)
c.5132G>A (p.Gly1711Asp)
c.5180G>A (p.Gly1727Asp)
c.4154G>A (p.Gly1385Asp)
c.3735G>A
c.3296G>A (p.Gly1099Asp)
c.*1113G>A (n.*1113G>A)
c.4449G>A
c.4025G>A (p.Gly1342Asp)
c.5222G>A (p.Gly1741Asp)
c.5219G>A (p.Gly1740Asp)
c.5174G>A (p.Gly1725Asp)
c.4298G>A (p.Gly1433Asp)
c.4067G>A (p.Gly1356Asp)
dbSNP gnomAD v4
10g.94298391G>CCA377641679PLCE1c.4256G>C (p.Gly1419Ala)
c.*1723G>C (n.*1723G>C)
n.1915G>C
n.599G>C
c.*464G>C (n.*464G>C)
c.4208G>C (p.Gly1403Ala)
n.9388G>C
n.2853G>C
c.5048G>C (p.Gly1683Ala)
c.5132G>C (p.Gly1711Ala)
c.5180G>C (p.Gly1727Ala)
c.4154G>C (p.Gly1385Ala)
c.3735G>C
c.3296G>C (p.Gly1099Ala)
c.*1113G>C (n.*1113G>C)
c.4449G>C
c.4025G>C (p.Gly1342Ala)
c.5222G>C (p.Gly1741Ala)
c.5219G>C (p.Gly1740Ala)
c.5174G>C (p.Gly1725Ala)
c.4298G>C (p.Gly1433Ala)
c.4067G>C (p.Gly1356Ala)
10g.94298391G=CA1928998370PLCE1c.4256G= (p.Gly1419=)
c.*1723G= (n.*1723G=)
n.1915G=
n.599G=
c.*464G= (n.*464G=)
c.4208G= (p.Gly1403=)
n.9388G=
n.2853G=
c.5048G= (p.Gly1683=)
c.5132G= (p.Gly1711=)
c.5180G= (p.Gly1727=)
c.4154G= (p.Gly1385=)
c.3735G=
c.3296G= (p.Gly1099=)
c.*1113G= (n.*1113G=)
c.4449G=
c.4025G= (p.Gly1342=)
c.5222G= (p.Gly1741=)
c.5219G= (p.Gly1740=)
c.5174G= (p.Gly1725=)
c.4298G= (p.Gly1433=)
c.4067G= (p.Gly1356=)
10g.94298391G>TCA377641680PLCE1c.4256G>T (p.Gly1419Val)
c.*1723G>T (n.*1723G>T)
n.1915G>T
n.599G>T
c.*464G>T (n.*464G>T)
c.4208G>T (p.Gly1403Val)
n.9388G>T
n.2853G>T
c.5048G>T (p.Gly1683Val)
c.5132G>T (p.Gly1711Val)
c.5180G>T (p.Gly1727Val)
c.4154G>T (p.Gly1385Val)
c.3735G>T
c.3296G>T (p.Gly1099Val)
c.*1113G>T (n.*1113G>T)
c.4449G>T
c.4025G>T (p.Gly1342Val)
c.5222G>T (p.Gly1741Val)
c.5219G>T (p.Gly1740Val)
c.5174G>T (p.Gly1725Val)
c.4298G>T (p.Gly1433Val)
c.4067G>T (p.Gly1356Val)
10g.94298392C>ACA470986397PLCE1c.4257C>A (p.Gly1419=)
c.*1724C>A (n.*1724C>A)
n.1916C>A
n.600C>A
c.*465C>A (n.*465C>A)
c.4209C>A (p.Gly1403=)
n.9389C>A
n.2854C>A
c.5049C>A (p.Gly1683=)
c.5133C>A (p.Gly1711=)
c.5181C>A (p.Gly1727=)
c.4155C>A (p.Gly1385=)
c.3736C>A
c.3297C>A (p.Gly1099=)
c.*1114C>A (n.*1114C>A)
c.4450C>A
c.4026C>A (p.Gly1342=)
c.5223C>A (p.Gly1741=)
c.5220C>A (p.Gly1740=)
c.5175C>A (p.Gly1725=)
c.4299C>A (p.Gly1433=)
c.4068C>A (p.Gly1356=)
10g.94298392C>GCA470986398PLCE1c.4257C>G (p.Gly1419=)
c.*1724C>G (n.*1724C>G)
n.1916C>G
n.600C>G
c.*465C>G (n.*465C>G)
c.4209C>G (p.Gly1403=)
n.9389C>G
n.2854C>G
c.5049C>G (p.Gly1683=)
c.5133C>G (p.Gly1711=)
c.5181C>G (p.Gly1727=)
c.4155C>G (p.Gly1385=)
c.3736C>G
c.3297C>G (p.Gly1099=)
c.*1114C>G (n.*1114C>G)
c.4450C>G
c.4026C>G (p.Gly1342=)
c.5223C>G (p.Gly1741=)
c.5220C>G (p.Gly1740=)
c.5175C>G (p.Gly1725=)
c.4299C>G (p.Gly1433=)
c.4068C>G (p.Gly1356=)
10g.94298392C>TCA470986399PLCE1c.4257C>T (p.Gly1419=)
c.*1724C>T (n.*1724C>T)
n.1916C>T
n.600C>T
c.*465C>T (n.*465C>T)
c.4209C>T (p.Gly1403=)
n.9389C>T
n.2854C>T
c.5049C>T (p.Gly1683=)
c.5133C>T (p.Gly1711=)
c.5181C>T (p.Gly1727=)
c.4155C>T (p.Gly1385=)
c.3736C>T
c.3297C>T (p.Gly1099=)
c.*1114C>T (n.*1114C>T)
c.4450C>T
c.4026C>T (p.Gly1342=)
c.5223C>T (p.Gly1741=)
c.5220C>T (p.Gly1740=)
c.5175C>T (p.Gly1725=)
c.4299C>T (p.Gly1433=)
c.4068C>T (p.Gly1356=)
gnomAD v4
10g.94298393A>CCA377641681PLCE1c.4258A>C (p.Ile1420Leu)
c.*1725A>C (n.*1725A>C)
n.1917A>C
n.601A>C
c.*466A>C (n.*466A>C)
c.4210A>C (p.Ile1404Leu)
n.9390A>C
n.2855A>C
c.5050A>C (p.Ile1684Leu)
c.5134A>C (p.Ile1712Leu)
c.5182A>C (p.Ile1728Leu)
c.4156A>C (p.Ile1386Leu)
c.3737A>C
c.3298A>C (p.Ile1100Leu)
c.*1115A>C (n.*1115A>C)
c.4451A>C
c.4027A>C (p.Ile1343Leu)
c.5224A>C (p.Ile1742Leu)
c.5221A>C (p.Ile1741Leu)
c.5176A>C (p.Ile1726Leu)
c.4300A>C (p.Ile1434Leu)
c.4069A>C (p.Ile1357Leu)
10g.94298393A>GCA377641682PLCE1c.4258A>G (p.Ile1420Val)
c.*1725A>G (n.*1725A>G)
n.1917A>G
n.601A>G
c.*466A>G (n.*466A>G)
c.4210A>G (p.Ile1404Val)
n.9390A>G
n.2855A>G
c.5050A>G (p.Ile1684Val)
c.5134A>G (p.Ile1712Val)
c.5182A>G (p.Ile1728Val)
c.4156A>G (p.Ile1386Val)
c.3737A>G
c.3298A>G (p.Ile1100Val)
c.*1115A>G (n.*1115A>G)
c.4451A>G
c.4027A>G (p.Ile1343Val)
c.5224A>G (p.Ile1742Val)
c.5221A>G (p.Ile1741Val)
c.5176A>G (p.Ile1726Val)
c.4300A>G (p.Ile1434Val)
c.4069A>G (p.Ile1357Val)
gnomAD v4
10g.94298393A>TCA377641683PLCE1c.4258A>T (p.Ile1420Phe)
c.*1725A>T (n.*1725A>T)
n.1917A>T
n.601A>T
c.*466A>T (n.*466A>T)
c.4210A>T (p.Ile1404Phe)
n.9390A>T
n.2855A>T
c.5050A>T (p.Ile1684Phe)
c.5134A>T (p.Ile1712Phe)
c.5182A>T (p.Ile1728Phe)
c.4156A>T (p.Ile1386Phe)
c.3737A>T
c.3298A>T (p.Ile1100Phe)
c.*1115A>T (n.*1115A>T)
c.4451A>T
c.4027A>T (p.Ile1343Phe)
c.5224A>T (p.Ile1742Phe)
c.5221A>T (p.Ile1741Phe)
c.5176A>T (p.Ile1726Phe)
c.4300A>T (p.Ile1434Phe)
c.4069A>T (p.Ile1357Phe)
10g.94298394T>ACA377641684PLCE1c.4259T>A (p.Ile1420Asn)
c.*1726T>A (n.*1726T>A)
n.1918T>A
n.602T>A
c.*467T>A (n.*467T>A)
c.4211T>A (p.Ile1404Asn)
n.9391T>A
n.2856T>A
c.5051T>A (p.Ile1684Asn)
c.5135T>A (p.Ile1712Asn)
c.5183T>A (p.Ile1728Asn)
c.4157T>A (p.Ile1386Asn)
c.3738T>A
c.3299T>A (p.Ile1100Asn)
c.*1116T>A (n.*1116T>A)
c.4452T>A
c.4028T>A (p.Ile1343Asn)
c.5225T>A (p.Ile1742Asn)
c.5222T>A (p.Ile1741Asn)
c.5177T>A (p.Ile1726Asn)
c.4301T>A (p.Ile1434Asn)
c.4070T>A (p.Ile1357Asn)
10g.94298394T>CCA377641686PLCE1c.4259T>C (p.Ile1420Thr)
c.*1726T>C (n.*1726T>C)
n.1918T>C
n.602T>C
c.*467T>C (n.*467T>C)
c.4211T>C (p.Ile1404Thr)
n.9391T>C
n.2856T>C
c.5051T>C (p.Ile1684Thr)
c.5135T>C (p.Ile1712Thr)
c.5183T>C (p.Ile1728Thr)
c.4157T>C (p.Ile1386Thr)
c.3738T>C
c.3299T>C (p.Ile1100Thr)
c.*1116T>C (n.*1116T>C)
c.4452T>C
c.4028T>C (p.Ile1343Thr)
c.5225T>C (p.Ile1742Thr)
c.5222T>C (p.Ile1741Thr)
c.5177T>C (p.Ile1726Thr)
c.4301T>C (p.Ile1434Thr)
c.4070T>C (p.Ile1357Thr)
10g.94298394T>GCA377641685PLCE1c.4259T>G (p.Ile1420Ser)
c.*1726T>G (n.*1726T>G)
n.1918T>G
n.602T>G
c.*467T>G (n.*467T>G)
c.4211T>G (p.Ile1404Ser)
n.9391T>G
n.2856T>G
c.5051T>G (p.Ile1684Ser)
c.5135T>G (p.Ile1712Ser)
c.5183T>G (p.Ile1728Ser)
c.4157T>G (p.Ile1386Ser)
c.3738T>G
c.3299T>G (p.Ile1100Ser)
c.*1116T>G (n.*1116T>G)
c.4452T>G
c.4028T>G (p.Ile1343Ser)
c.5225T>G (p.Ile1742Ser)
c.5222T>G (p.Ile1741Ser)
c.5177T>G (p.Ile1726Ser)
c.4301T>G (p.Ile1434Ser)
c.4070T>G (p.Ile1357Ser)
10g.94298395T>ACA470986401PLCE1c.4260T>A (p.Ile1420=)
c.*1727T>A (n.*1727T>A)
n.1919T>A
n.603T>A
c.*468T>A (n.*468T>A)
c.4212T>A (p.Ile1404=)
n.9392T>A
n.2857T>A
c.5052T>A (p.Ile1684=)
c.5136T>A (p.Ile1712=)
c.5184T>A (p.Ile1728=)
c.4158T>A (p.Ile1386=)
c.3739T>A
c.3300T>A (p.Ile1100=)
c.*1117T>A (n.*1117T>A)
c.4453T>A
c.4029T>A (p.Ile1343=)
c.5226T>A (p.Ile1742=)
c.5223T>A (p.Ile1741=)
c.5178T>A (p.Ile1726=)
c.4302T>A (p.Ile1434=)
c.4071T>A (p.Ile1357=)
10g.94298395T>CCA470986402PLCE1c.4260T>C (p.Ile1420=)
c.*1727T>C (n.*1727T>C)
n.1919T>C
n.603T>C
c.*468T>C (n.*468T>C)
c.4212T>C (p.Ile1404=)
n.9392T>C
n.2857T>C
c.5052T>C (p.Ile1684=)
c.5136T>C (p.Ile1712=)
c.5184T>C (p.Ile1728=)
c.4158T>C (p.Ile1386=)
c.3739T>C
c.3300T>C (p.Ile1100=)
c.*1117T>C (n.*1117T>C)
c.4453T>C
c.4029T>C (p.Ile1343=)
c.5226T>C (p.Ile1742=)
c.5223T>C (p.Ile1741=)
c.5178T>C (p.Ile1726=)
c.4302T>C (p.Ile1434=)
c.4071T>C (p.Ile1357=)
10g.94298395T>GCA377641687PLCE1c.4260T>G (p.Ile1420Met)
c.*1727T>G (n.*1727T>G)
n.1919T>G
n.603T>G
c.*468T>G (n.*468T>G)
c.4212T>G (p.Ile1404Met)
n.9392T>G
n.2857T>G
c.5052T>G (p.Ile1684Met)
c.5136T>G (p.Ile1712Met)
c.5184T>G (p.Ile1728Met)
c.4158T>G (p.Ile1386Met)
c.3739T>G
c.3300T>G (p.Ile1100Met)
c.*1117T>G (n.*1117T>G)
c.4453T>G
c.4029T>G (p.Ile1343Met)
c.5226T>G (p.Ile1742Met)
c.5223T>G (p.Ile1741Met)
c.5178T>G (p.Ile1726Met)
c.4302T>G (p.Ile1434Met)
c.4071T>G (p.Ile1357Met)
10g.94298396C>ACA470986403PLCE1c.4261C>A (p.Arg1421=)
c.*1728C>A (n.*1728C>A)
n.1920C>A
n.604C>A
c.*469C>A (n.*469C>A)
c.4213C>A (p.Arg1405=)
n.9393C>A
n.2858C>A
c.5053C>A (p.Arg1685=)
c.5137C>A (p.Arg1713=)
c.5185C>A (p.Arg1729=)
c.4159C>A (p.Arg1387=)
c.3740C>A
c.3301C>A (p.Arg1101=)
c.*1118C>A (n.*1118C>A)
c.4454C>A
c.4030C>A (p.Arg1344=)
c.5227C>A (p.Arg1743=)
c.5224C>A (p.Arg1742=)
c.5179C>A (p.Arg1727=)
c.4303C>A (p.Arg1435=)
c.4072C>A (p.Arg1358=)
10g.94298396C=CA1928998371PLCE1c.4261C= (p.Arg1421=)
c.*1728C= (n.*1728C=)
n.1920C=
n.604C=
c.*469C= (n.*469C=)
c.4213C= (p.Arg1405=)
n.9393C=
n.2858C=
c.5053C= (p.Arg1685=)
c.5137C= (p.Arg1713=)
c.5185C= (p.Arg1729=)
c.4159C= (p.Arg1387=)
c.3740C=
c.3301C= (p.Arg1101=)
c.*1118C= (n.*1118C=)
c.4454C=
c.4030C= (p.Arg1344=)
c.5227C= (p.Arg1743=)
c.5224C= (p.Arg1742=)
c.5179C= (p.Arg1727=)
c.4303C= (p.Arg1435=)
c.4072C= (p.Arg1358=)
10g.94298396C>GCA377641688PLCE1c.4261C>G (p.Arg1421Gly)
c.*1728C>G (n.*1728C>G)
n.1920C>G
n.604C>G
c.*469C>G (n.*469C>G)
c.4213C>G (p.Arg1405Gly)
n.9393C>G
n.2858C>G
c.5053C>G (p.Arg1685Gly)
c.5137C>G (p.Arg1713Gly)
c.5185C>G (p.Arg1729Gly)
c.4159C>G (p.Arg1387Gly)
c.3740C>G
c.3301C>G (p.Arg1101Gly)
c.*1118C>G (n.*1118C>G)
c.4454C>G
c.4030C>G (p.Arg1344Gly)
c.5227C>G (p.Arg1743Gly)
c.5224C>G (p.Arg1742Gly)
c.5179C>G (p.Arg1727Gly)
c.4303C>G (p.Arg1435Gly)
c.4072C>G (p.Arg1358Gly)
10g.94298396C>TCA5613313PLCE1c.4261C>T (p.Arg1421Ter)
c.*1728C>T (n.*1728C>T)
n.1920C>T
n.604C>T
c.*469C>T (n.*469C>T)
c.4213C>T (p.Arg1405Ter)
n.9393C>T
n.2858C>T
c.5053C>T (p.Arg1685Ter)
c.5137C>T (p.Arg1713Ter)
c.5185C>T (p.Arg1729Ter)
c.4159C>T (p.Arg1387Ter)
c.3740C>T
c.3301C>T (p.Arg1101Ter)
c.*1118C>T (n.*1118C>T)
c.4454C>T
c.4030C>T (p.Arg1344Ter)
c.5227C>T (p.Arg1743Ter)
c.5224C>T (p.Arg1742Ter)
c.5179C>T (p.Arg1727Ter)
c.4303C>T (p.Arg1435Ter)
c.4072C>T (p.Arg1358Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298397G>ACA5613314PLCE1c.4262G>A (p.Arg1421Gln)
c.*1729G>A (n.*1729G>A)
n.1921G>A
n.605G>A
c.*470G>A (n.*470G>A)
c.4214G>A (p.Arg1405Gln)
n.9394G>A
n.2859G>A
c.5054G>A (p.Arg1685Gln)
c.5138G>A (p.Arg1713Gln)
c.5186G>A (p.Arg1729Gln)
c.4160G>A (p.Arg1387Gln)
c.3741G>A
c.3302G>A (p.Arg1101Gln)
c.*1119G>A (n.*1119G>A)
c.4455G>A
c.4031G>A (p.Arg1344Gln)
c.5228G>A (p.Arg1743Gln)
c.5225G>A (p.Arg1742Gln)
c.5180G>A (p.Arg1727Gln)
c.4304G>A (p.Arg1435Gln)
c.4073G>A (p.Arg1358Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.94298397G>CCA377641689PLCE1c.4262G>C (p.Arg1421Pro)
c.*1729G>C (n.*1729G>C)
n.1921G>C
n.605G>C
c.*470G>C (n.*470G>C)
c.4214G>C (p.Arg1405Pro)
n.9394G>C
n.2859G>C
c.5054G>C (p.Arg1685Pro)
c.5138G>C (p.Arg1713Pro)
c.5186G>C (p.Arg1729Pro)
c.4160G>C (p.Arg1387Pro)
c.3741G>C
c.3302G>C (p.Arg1101Pro)
c.*1119G>C (n.*1119G>C)
c.4455G>C
c.4031G>C (p.Arg1344Pro)
c.5228G>C (p.Arg1743Pro)
c.5225G>C (p.Arg1742Pro)
c.5180G>C (p.Arg1727Pro)
c.4304G>C (p.Arg1435Pro)
c.4073G>C (p.Arg1358Pro)
10g.94298397G=CA1928998372PLCE1c.4262G= (p.Arg1421=)
c.*1729G= (n.*1729G=)
n.1921G=
n.605G=
c.*470G= (n.*470G=)
c.4214G= (p.Arg1405=)
n.9394G=
n.2859G=
c.5054G= (p.Arg1685=)
c.5138G= (p.Arg1713=)
c.5186G= (p.Arg1729=)
c.4160G= (p.Arg1387=)
c.3741G=
c.3302G= (p.Arg1101=)
c.*1119G= (n.*1119G=)
c.4455G=
c.4031G= (p.Arg1344=)
c.5228G= (p.Arg1743=)
c.5225G= (p.Arg1742=)
c.5180G= (p.Arg1727=)
c.4304G= (p.Arg1435=)
c.4073G= (p.Arg1358=)
10g.94298397G>TCA377641690PLCE1c.4262G>T (p.Arg1421Leu)
c.*1729G>T (n.*1729G>T)
n.1921G>T
n.605G>T
c.*470G>T (n.*470G>T)
c.4214G>T (p.Arg1405Leu)
n.9394G>T
n.2859G>T
c.5054G>T (p.Arg1685Leu)
c.5138G>T (p.Arg1713Leu)
c.5186G>T (p.Arg1729Leu)
c.4160G>T (p.Arg1387Leu)
c.3741G>T
c.3302G>T (p.Arg1101Leu)
c.*1119G>T (n.*1119G>T)
c.4455G>T
c.4031G>T (p.Arg1344Leu)
c.5228G>T (p.Arg1743Leu)
c.5225G>T (p.Arg1742Leu)
c.5180G>T (p.Arg1727Leu)
c.4304G>T (p.Arg1435Leu)
c.4073G>T (p.Arg1358Leu)
10g.94298398A>CCA470986406PLCE1c.4263A>C (p.Arg1421=)
c.*1730A>C (n.*1730A>C)
n.1922A>C
n.606A>C
c.*471A>C (n.*471A>C)
c.4215A>C (p.Arg1405=)
n.9395A>C
n.2860A>C
c.5055A>C (p.Arg1685=)
c.5139A>C (p.Arg1713=)
c.5187A>C (p.Arg1729=)
c.4161A>C (p.Arg1387=)
c.3742A>C
c.3303A>C (p.Arg1101=)
c.*1120A>C (n.*1120A>C)
c.4456A>C
c.4032A>C (p.Arg1344=)
c.5229A>C (p.Arg1743=)
c.5226A>C (p.Arg1742=)
c.5181A>C (p.Arg1727=)
c.4305A>C (p.Arg1435=)
c.4074A>C (p.Arg1358=)
10g.94298398A>GCA470986407PLCE1c.4263A>G (p.Arg1421=)
c.*1730A>G (n.*1730A>G)
n.1922A>G
n.606A>G
c.*471A>G (n.*471A>G)
c.4215A>G (p.Arg1405=)
n.9395A>G
n.2860A>G
c.5055A>G (p.Arg1685=)
c.5139A>G (p.Arg1713=)
c.5187A>G (p.Arg1729=)
c.4161A>G (p.Arg1387=)
c.3742A>G
c.3303A>G (p.Arg1101=)
c.*1120A>G (n.*1120A>G)
c.4456A>G
c.4032A>G (p.Arg1344=)
c.5229A>G (p.Arg1743=)
c.5226A>G (p.Arg1742=)
c.5181A>G (p.Arg1727=)
c.4305A>G (p.Arg1435=)
c.4074A>G (p.Arg1358=)
gnomAD v4
10g.94298398A>TCA470986404PLCE1c.4263A>T (p.Arg1421=)
c.*1730A>T (n.*1730A>T)
n.1922A>T
n.606A>T
c.*471A>T (n.*471A>T)
c.4215A>T (p.Arg1405=)
n.9395A>T
n.2860A>T
c.5055A>T (p.Arg1685=)
c.5139A>T (p.Arg1713=)
c.5187A>T (p.Arg1729=)
c.4161A>T (p.Arg1387=)
c.3742A>T
c.3303A>T (p.Arg1101=)
c.*1120A>T (n.*1120A>T)
c.4456A>T
c.4032A>T (p.Arg1344=)
c.5229A>T (p.Arg1743=)
c.5226A>T (p.Arg1742=)
c.5181A>T (p.Arg1727=)
c.4305A>T (p.Arg1435=)
c.4074A>T (p.Arg1358=)
10g.94298399C>ACA377641691PLCE1c.4264C>A (p.Gln1422Lys)
c.*1731C>A (n.*1731C>A)
n.1923C>A
n.607C>A
c.*472C>A (n.*472C>A)
c.4216C>A (p.Gln1406Lys)
n.9396C>A
n.2861C>A
c.5056C>A (p.Gln1686Lys)
c.5140C>A (p.Gln1714Lys)
c.5188C>A (p.Gln1730Lys)
c.4162C>A (p.Gln1388Lys)
c.3743C>A
c.3304C>A (p.Gln1102Lys)
c.*1121C>A (n.*1121C>A)
c.4457C>A
c.4033C>A (p.Gln1345Lys)
c.5230C>A (p.Gln1744Lys)
c.5227C>A (p.Gln1743Lys)
c.5182C>A (p.Gln1728Lys)
c.4306C>A (p.Gln1436Lys)
c.4075C>A (p.Gln1359Lys)
10g.94298399C=CA1928998373PLCE1c.4264C= (p.Gln1422=)
c.*1731C= (n.*1731C=)
n.1923C=
n.607C=
c.*472C= (n.*472C=)
c.4216C= (p.Gln1406=)
n.9396C=
n.2861C=
c.5056C= (p.Gln1686=)
c.5140C= (p.Gln1714=)
c.5188C= (p.Gln1730=)
c.4162C= (p.Gln1388=)
c.3743C=
c.3304C= (p.Gln1102=)
c.*1121C= (n.*1121C=)
c.4457C=
c.4033C= (p.Gln1345=)
c.5230C= (p.Gln1744=)
c.5227C= (p.Gln1743=)
c.5182C= (p.Gln1728=)
c.4306C= (p.Gln1436=)
c.4075C= (p.Gln1359=)
10g.94298399C>GCA211599558PLCE1c.4264C>G (p.Gln1422Glu)
c.*1731C>G (n.*1731C>G)
n.1923C>G
n.607C>G
c.*472C>G (n.*472C>G)
c.4216C>G (p.Gln1406Glu)
n.9396C>G
n.2861C>G
c.5056C>G (p.Gln1686Glu)
c.5140C>G (p.Gln1714Glu)
c.5188C>G (p.Gln1730Glu)
c.4162C>G (p.Gln1388Glu)
c.3743C>G
c.3304C>G (p.Gln1102Glu)
c.*1121C>G (n.*1121C>G)
c.4457C>G
c.4033C>G (p.Gln1345Glu)
c.5230C>G (p.Gln1744Glu)
c.5227C>G (p.Gln1743Glu)
c.5182C>G (p.Gln1728Glu)
c.4306C>G (p.Gln1436Glu)
c.4075C>G (p.Gln1359Glu)
dbSNP
10g.94298399C>TCA377641692PLCE1c.4264C>T (p.Gln1422Ter)
c.*1731C>T (n.*1731C>T)
n.1923C>T
n.607C>T
c.*472C>T (n.*472C>T)
c.4216C>T (p.Gln1406Ter)
n.9396C>T
n.2861C>T
c.5056C>T (p.Gln1686Ter)
c.5140C>T (p.Gln1714Ter)
c.5188C>T (p.Gln1730Ter)
c.4162C>T (p.Gln1388Ter)
c.3743C>T
c.3304C>T (p.Gln1102Ter)
c.*1121C>T (n.*1121C>T)
c.4457C>T
c.4033C>T (p.Gln1345Ter)
c.5230C>T (p.Gln1744Ter)
c.5227C>T (p.Gln1743Ter)
c.5182C>T (p.Gln1728Ter)
c.4306C>T (p.Gln1436Ter)
c.4075C>T (p.Gln1359Ter)
10g.94298400A>CCA377641693PLCE1c.4265A>C (p.Gln1422Pro)
c.*1732A>C (n.*1732A>C)
n.1924A>C
n.608A>C
c.*473A>C (n.*473A>C)
c.4217A>C (p.Gln1406Pro)
n.9397A>C
n.2862A>C
c.5057A>C (p.Gln1686Pro)
c.5141A>C (p.Gln1714Pro)
c.5189A>C (p.Gln1730Pro)
c.4163A>C (p.Gln1388Pro)
c.3744A>C
c.3305A>C (p.Gln1102Pro)
c.*1122A>C (n.*1122A>C)
c.4458A>C
c.4034A>C (p.Gln1345Pro)
c.5231A>C (p.Gln1744Pro)
c.5228A>C (p.Gln1743Pro)
c.5183A>C (p.Gln1728Pro)
c.4307A>C (p.Gln1436Pro)
c.4076A>C (p.Gln1359Pro)
10g.94298400A>GCA377641694PLCE1c.4265A>G (p.Gln1422Arg)
c.*1732A>G (n.*1732A>G)
n.1924A>G
n.608A>G
c.*473A>G (n.*473A>G)
c.4217A>G (p.Gln1406Arg)
n.9397A>G
n.2862A>G
c.5057A>G (p.Gln1686Arg)
c.5141A>G (p.Gln1714Arg)
c.5189A>G (p.Gln1730Arg)
c.4163A>G (p.Gln1388Arg)
c.3744A>G
c.3305A>G (p.Gln1102Arg)
c.*1122A>G (n.*1122A>G)
c.4458A>G
c.4034A>G (p.Gln1345Arg)
c.5231A>G (p.Gln1744Arg)
c.5228A>G (p.Gln1743Arg)
c.5183A>G (p.Gln1728Arg)
c.4307A>G (p.Gln1436Arg)
c.4076A>G (p.Gln1359Arg)
10g.94298400A>TCA377641695PLCE1c.4265A>T (p.Gln1422Leu)
c.*1732A>T (n.*1732A>T)
n.1924A>T
n.608A>T
c.*473A>T (n.*473A>T)
c.4217A>T (p.Gln1406Leu)
n.9397A>T
n.2862A>T
c.5057A>T (p.Gln1686Leu)
c.5141A>T (p.Gln1714Leu)
c.5189A>T (p.Gln1730Leu)
c.4163A>T (p.Gln1388Leu)
c.3744A>T
c.3305A>T (p.Gln1102Leu)
c.*1122A>T (n.*1122A>T)
c.4458A>T
c.4034A>T (p.Gln1345Leu)
c.5231A>T (p.Gln1744Leu)
c.5228A>T (p.Gln1743Leu)
c.5183A>T (p.Gln1728Leu)
c.4307A>T (p.Gln1436Leu)
c.4076A>T (p.Gln1359Leu)
10g.94298401G>ACA470986409PLCE1c.4266G>A (p.Gln1422=)
c.*1733G>A (n.*1733G>A)
n.1925G>A
n.609G>A
c.*474G>A (n.*474G>A)
c.4218G>A (p.Gln1406=)
n.9398G>A
n.2863G>A
c.5058G>A (p.Gln1686=)
c.5142G>A (p.Gln1714=)
c.5190G>A (p.Gln1730=)
c.4164G>A (p.Gln1388=)
c.3745G>A
c.3306G>A (p.Gln1102=)
c.*1123G>A (n.*1123G>A)
c.4459G>A
c.4035G>A (p.Gln1345=)
c.5232G>A (p.Gln1744=)
c.5229G>A (p.Gln1743=)
c.5184G>A (p.Gln1728=)
c.4308G>A (p.Gln1436=)
c.4077G>A (p.Gln1359=)
10g.94298401G>CCA377641697PLCE1c.4266G>C (p.Gln1422His)
c.*1733G>C (n.*1733G>C)
n.1925G>C
n.609G>C
c.*474G>C (n.*474G>C)
c.4218G>C (p.Gln1406His)
n.9398G>C
n.2863G>C
c.5058G>C (p.Gln1686His)
c.5142G>C (p.Gln1714His)
c.5190G>C (p.Gln1730His)
c.4164G>C (p.Gln1388His)
c.3745G>C
c.3306G>C (p.Gln1102His)
c.*1123G>C (n.*1123G>C)
c.4459G>C
c.4035G>C (p.Gln1345His)
c.5232G>C (p.Gln1744His)
c.5229G>C (p.Gln1743His)
c.5184G>C (p.Gln1728His)
c.4308G>C (p.Gln1436His)
c.4077G>C (p.Gln1359His)
10g.94298401G>TCA377641696PLCE1c.4266G>T (p.Gln1422His)
c.*1733G>T (n.*1733G>T)
n.1925G>T
n.609G>T
c.*474G>T (n.*474G>T)
c.4218G>T (p.Gln1406His)
n.9398G>T
n.2863G>T
c.5058G>T (p.Gln1686His)
c.5142G>T (p.Gln1714His)
c.5190G>T (p.Gln1730His)
c.4164G>T (p.Gln1388His)
c.3745G>T
c.3306G>T (p.Gln1102His)
c.*1123G>T (n.*1123G>T)
c.4459G>T
c.4035G>T (p.Gln1345His)
c.5232G>T (p.Gln1744His)
c.5229G>T (p.Gln1743His)
c.5184G>T (p.Gln1728His)
c.4308G>T (p.Gln1436His)
c.4077G>T (p.Gln1359His)
10g.94298402A>CCA377641698PLCE1c.4267A>C (p.Thr1423Pro)
c.*1734A>C (n.*1734A>C)
n.1926A>C
n.610A>C
c.*475A>C (n.*475A>C)
c.4219A>C (p.Thr1407Pro)
n.9399A>C
n.2864A>C
c.5059A>C (p.Thr1687Pro)
c.5143A>C (p.Thr1715Pro)
c.5191A>C (p.Thr1731Pro)
c.4165A>C (p.Thr1389Pro)
c.3746A>C
c.3307A>C (p.Thr1103Pro)
c.*1124A>C (n.*1124A>C)
c.4460A>C
c.4036A>C (p.Thr1346Pro)
c.5233A>C (p.Thr1745Pro)
c.5230A>C (p.Thr1744Pro)
c.5185A>C (p.Thr1729Pro)
c.4309A>C (p.Thr1437Pro)
c.4078A>C (p.Thr1360Pro)
10g.94298402A>GCA377641699PLCE1c.4267A>G (p.Thr1423Ala)
c.*1734A>G (n.*1734A>G)
n.1926A>G
n.610A>G
c.*475A>G (n.*475A>G)
c.4219A>G (p.Thr1407Ala)
n.9399A>G
n.2864A>G
c.5059A>G (p.Thr1687Ala)
c.5143A>G (p.Thr1715Ala)
c.5191A>G (p.Thr1731Ala)
c.4165A>G (p.Thr1389Ala)
c.3746A>G
c.3307A>G (p.Thr1103Ala)
c.*1124A>G (n.*1124A>G)
c.4460A>G
c.4036A>G (p.Thr1346Ala)
c.5233A>G (p.Thr1745Ala)
c.5230A>G (p.Thr1744Ala)
c.5185A>G (p.Thr1729Ala)
c.4309A>G (p.Thr1437Ala)
c.4078A>G (p.Thr1360Ala)
10g.94298402A>TCA377641700PLCE1c.4267A>T (p.Thr1423Ser)
c.*1734A>T (n.*1734A>T)
n.1926A>T
n.610A>T
c.*475A>T (n.*475A>T)
c.4219A>T (p.Thr1407Ser)
n.9399A>T
n.2864A>T
c.5059A>T (p.Thr1687Ser)
c.5143A>T (p.Thr1715Ser)
c.5191A>T (p.Thr1731Ser)
c.4165A>T (p.Thr1389Ser)
c.3746A>T
c.3307A>T (p.Thr1103Ser)
c.*1124A>T (n.*1124A>T)
c.4460A>T
c.4036A>T (p.Thr1346Ser)
c.5233A>T (p.Thr1745Ser)
c.5230A>T (p.Thr1744Ser)
c.5185A>T (p.Thr1729Ser)
c.4309A>T (p.Thr1437Ser)
c.4078A>T (p.Thr1360Ser)
10g.94298403C>ACA377641701PLCE1c.4268C>A (p.Thr1423Asn)
c.*1735C>A (n.*1735C>A)
n.1927C>A
n.611C>A
c.*476C>A (n.*476C>A)
c.4220C>A (p.Thr1407Asn)
n.9400C>A
n.2865C>A
c.5060C>A (p.Thr1687Asn)
c.5144C>A (p.Thr1715Asn)
c.5192C>A (p.Thr1731Asn)
c.4166C>A (p.Thr1389Asn)
c.3747C>A
c.3308C>A (p.Thr1103Asn)
c.*1125C>A (n.*1125C>A)
c.4461C>A
c.4037C>A (p.Thr1346Asn)
c.5234C>A (p.Thr1745Asn)
c.5231C>A (p.Thr1744Asn)
c.5186C>A (p.Thr1729Asn)
c.4310C>A (p.Thr1437Asn)
c.4079C>A (p.Thr1360Asn)
gnomAD v4
10g.94298403C=CA1928998374PLCE1c.4268C= (p.Thr1423=)
c.*1735C= (n.*1735C=)
n.1927C=
n.611C=
c.*476C= (n.*476C=)
c.4220C= (p.Thr1407=)
n.9400C=
n.2865C=
c.5060C= (p.Thr1687=)
c.5144C= (p.Thr1715=)
c.5192C= (p.Thr1731=)
c.4166C= (p.Thr1389=)
c.3747C=
c.3308C= (p.Thr1103=)
c.*1125C= (n.*1125C=)
c.4461C=
c.4037C= (p.Thr1346=)
c.5234C= (p.Thr1745=)
c.5231C= (p.Thr1744=)
c.5186C= (p.Thr1729=)
c.4310C= (p.Thr1437=)
c.4079C= (p.Thr1360=)
10g.94298403C>GCA377641702PLCE1c.4268C>G (p.Thr1423Ser)
c.*1735C>G (n.*1735C>G)
n.1927C>G
n.611C>G
c.*476C>G (n.*476C>G)
c.4220C>G (p.Thr1407Ser)
n.9400C>G
n.2865C>G
c.5060C>G (p.Thr1687Ser)
c.5144C>G (p.Thr1715Ser)
c.5192C>G (p.Thr1731Ser)
c.4166C>G (p.Thr1389Ser)
c.3747C>G
c.3308C>G (p.Thr1103Ser)
c.*1125C>G (n.*1125C>G)
c.4461C>G
c.4037C>G (p.Thr1346Ser)
c.5234C>G (p.Thr1745Ser)
c.5231C>G (p.Thr1744Ser)
c.5186C>G (p.Thr1729Ser)
c.4310C>G (p.Thr1437Ser)
c.4079C>G (p.Thr1360Ser)
10g.94298403C>TCA377641703PLCE1c.4268C>T (p.Thr1423Ile)
c.*1735C>T (n.*1735C>T)
n.1927C>T
n.611C>T
c.*476C>T (n.*476C>T)
c.4220C>T (p.Thr1407Ile)
n.9400C>T
n.2865C>T
c.5060C>T (p.Thr1687Ile)
c.5144C>T (p.Thr1715Ile)
c.5192C>T (p.Thr1731Ile)
c.4166C>T (p.Thr1389Ile)
c.3747C>T
c.3308C>T (p.Thr1103Ile)
c.*1125C>T (n.*1125C>T)
c.4461C>T
c.4037C>T (p.Thr1346Ile)
c.5234C>T (p.Thr1745Ile)
c.5231C>T (p.Thr1744Ile)
c.5186C>T (p.Thr1729Ile)
c.4310C>T (p.Thr1437Ile)
c.4079C>T (p.Thr1360Ile)
dbSNP gnomAD v2 gnomAD v4
10g.94298404C>ACA470986411PLCE1c.4269C>A (p.Thr1423=)
c.*1736C>A (n.*1736C>A)
n.1928C>A
n.612C>A
c.*477C>A (n.*477C>A)
c.4221C>A (p.Thr1407=)
n.9401C>A
n.2866C>A
c.5061C>A (p.Thr1687=)
c.5145C>A (p.Thr1715=)
c.5193C>A (p.Thr1731=)
c.4167C>A (p.Thr1389=)
c.3748C>A
c.3309C>A (p.Thr1103=)
c.*1126C>A (n.*1126C>A)
c.4462C>A
c.4038C>A (p.Thr1346=)
c.5235C>A (p.Thr1745=)
c.5232C>A (p.Thr1744=)
c.5187C>A (p.Thr1729=)
c.4311C>A (p.Thr1437=)
c.4080C>A (p.Thr1360=)
10g.94298404C=CA1928998375PLCE1c.4269C= (p.Thr1423=)
c.*1736C= (n.*1736C=)
n.1928C=
n.612C=
c.*477C= (n.*477C=)
c.4221C= (p.Thr1407=)
n.9401C=
n.2866C=
c.5061C= (p.Thr1687=)
c.5145C= (p.Thr1715=)
c.5193C= (p.Thr1731=)
c.4167C= (p.Thr1389=)
c.3748C=
c.3309C= (p.Thr1103=)
c.*1126C= (n.*1126C=)
c.4462C=
c.4038C= (p.Thr1346=)
c.5235C= (p.Thr1745=)
c.5232C= (p.Thr1744=)
c.5187C= (p.Thr1729=)
c.4311C= (p.Thr1437=)
c.4080C= (p.Thr1360=)
10g.94298404C>GCA470986413PLCE1c.4269C>G (p.Thr1423=)
c.*1736C>G (n.*1736C>G)
n.1928C>G
n.612C>G
c.*477C>G (n.*477C>G)
c.4221C>G (p.Thr1407=)
n.9401C>G
n.2866C>G
c.5061C>G (p.Thr1687=)
c.5145C>G (p.Thr1715=)
c.5193C>G (p.Thr1731=)
c.4167C>G (p.Thr1389=)
c.3748C>G
c.3309C>G (p.Thr1103=)
c.*1126C>G (n.*1126C>G)
c.4462C>G
c.4038C>G (p.Thr1346=)
c.5235C>G (p.Thr1745=)
c.5232C>G (p.Thr1744=)
c.5187C>G (p.Thr1729=)
c.4311C>G (p.Thr1437=)
c.4080C>G (p.Thr1360=)
dbSNP gnomAD v2
10g.94298404C>TCA470986412PLCE1c.4269C>T (p.Thr1423=)
c.*1736C>T (n.*1736C>T)
n.1928C>T
n.612C>T
c.*477C>T (n.*477C>T)
c.4221C>T (p.Thr1407=)
n.9401C>T
n.2866C>T
c.5061C>T (p.Thr1687=)
c.5145C>T (p.Thr1715=)
c.5193C>T (p.Thr1731=)
c.4167C>T (p.Thr1389=)
c.3748C>T
c.3309C>T (p.Thr1103=)
c.*1126C>T (n.*1126C>T)
c.4462C>T
c.4038C>T (p.Thr1346=)
c.5235C>T (p.Thr1745=)
c.5232C>T (p.Thr1744=)
c.5187C>T (p.Thr1729=)
c.4311C>T (p.Thr1437=)
c.4080C>T (p.Thr1360=)
10g.94298405T>ACA377641704PLCE1c.4270T>A (p.Trp1424Arg)
c.*1737T>A (n.*1737T>A)
n.1929T>A
n.613T>A
c.*478T>A (n.*478T>A)
c.4222T>A (p.Trp1408Arg)
n.9402T>A
n.2867T>A
c.5062T>A (p.Trp1688Arg)
c.5146T>A (p.Trp1716Arg)
c.5194T>A (p.Trp1732Arg)
c.4168T>A (p.Trp1390Arg)
c.3749T>A
c.3310T>A (p.Trp1104Arg)
c.*1127T>A (n.*1127T>A)
c.4463T>A
c.4039T>A (p.Trp1347Arg)
c.5236T>A (p.Trp1746Arg)
c.5233T>A (p.Trp1745Arg)
c.5188T>A (p.Trp1730Arg)
c.4312T>A (p.Trp1438Arg)
c.4081T>A (p.Trp1361Arg)
10g.94298405T>CCA5613315PLCE1c.4270T>C (p.Trp1424Arg)
c.*1737T>C (n.*1737T>C)
n.1929T>C
n.613T>C
c.*478T>C (n.*478T>C)
c.4222T>C (p.Trp1408Arg)
n.9402T>C
n.2867T>C
c.5062T>C (p.Trp1688Arg)
c.5146T>C (p.Trp1716Arg)
c.5194T>C (p.Trp1732Arg)
c.4168T>C (p.Trp1390Arg)
c.3749T>C
c.3310T>C (p.Trp1104Arg)
c.*1127T>C (n.*1127T>C)
c.4463T>C
c.4039T>C (p.Trp1347Arg)
c.5236T>C (p.Trp1746Arg)
c.5233T>C (p.Trp1745Arg)
c.5188T>C (p.Trp1730Arg)
c.4312T>C (p.Trp1438Arg)
c.4081T>C (p.Trp1361Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298405T>GCA377641705PLCE1c.4270T>G (p.Trp1424Gly)
c.*1737T>G (n.*1737T>G)
n.1929T>G
n.613T>G
c.*478T>G (n.*478T>G)
c.4222T>G (p.Trp1408Gly)
n.9402T>G
n.2867T>G
c.5062T>G (p.Trp1688Gly)
c.5146T>G (p.Trp1716Gly)
c.5194T>G (p.Trp1732Gly)
c.4168T>G (p.Trp1390Gly)
c.3749T>G
c.3310T>G (p.Trp1104Gly)
c.*1127T>G (n.*1127T>G)
c.4463T>G
c.4039T>G (p.Trp1347Gly)
c.5236T>G (p.Trp1746Gly)
c.5233T>G (p.Trp1745Gly)
c.5188T>G (p.Trp1730Gly)
c.4312T>G (p.Trp1438Gly)
c.4081T>G (p.Trp1361Gly)
10g.94298405T=CA1928998376PLCE1c.4270T= (p.Trp1424=)
c.*1737T= (n.*1737T=)
n.1929T=
n.613T=
c.*478T= (n.*478T=)
c.4222T= (p.Trp1408=)
n.9402T=
n.2867T=
c.5062T= (p.Trp1688=)
c.5146T= (p.Trp1716=)
c.5194T= (p.Trp1732=)
c.4168T= (p.Trp1390=)
c.3749T=
c.3310T= (p.Trp1104=)
c.*1127T= (n.*1127T=)
c.4463T=
c.4039T= (p.Trp1347=)
c.5236T= (p.Trp1746=)
c.5233T= (p.Trp1745=)
c.5188T= (p.Trp1730=)
c.4312T= (p.Trp1438=)
c.4081T= (p.Trp1361=)
10g.94298406G>ACA377641706PLCE1c.4271G>A (p.Trp1424Ter)
c.*1738G>A (n.*1738G>A)
n.1930G>A
n.614G>A
c.*479G>A (n.*479G>A)
c.4223G>A (p.Trp1408Ter)
n.9403G>A
n.2868G>A
c.5063G>A (p.Trp1688Ter)
c.5147G>A (p.Trp1716Ter)
c.5195G>A (p.Trp1732Ter)
c.4169G>A (p.Trp1390Ter)
c.3750G>A
c.3311G>A (p.Trp1104Ter)
c.*1128G>A (n.*1128G>A)
c.4464G>A
c.4040G>A (p.Trp1347Ter)
c.5237G>A (p.Trp1746Ter)
c.5234G>A (p.Trp1745Ter)
c.5189G>A (p.Trp1730Ter)
c.4313G>A (p.Trp1438Ter)
c.4082G>A (p.Trp1361Ter)
10g.94298406G>CCA377641707PLCE1c.4271G>C (p.Trp1424Ser)
c.*1738G>C (n.*1738G>C)
n.1930G>C
n.614G>C
c.*479G>C (n.*479G>C)
c.4223G>C (p.Trp1408Ser)
n.9403G>C
n.2868G>C
c.5063G>C (p.Trp1688Ser)
c.5147G>C (p.Trp1716Ser)
c.5195G>C (p.Trp1732Ser)
c.4169G>C (p.Trp1390Ser)
c.3750G>C
c.3311G>C (p.Trp1104Ser)
c.*1128G>C (n.*1128G>C)
c.4464G>C
c.4040G>C (p.Trp1347Ser)
c.5237G>C (p.Trp1746Ser)
c.5234G>C (p.Trp1745Ser)
c.5189G>C (p.Trp1730Ser)
c.4313G>C (p.Trp1438Ser)
c.4082G>C (p.Trp1361Ser)
10g.94298406G>TCA377641708PLCE1c.4271G>T (p.Trp1424Leu)
c.*1738G>T (n.*1738G>T)
n.1930G>T
n.614G>T
c.*479G>T (n.*479G>T)
c.4223G>T (p.Trp1408Leu)
n.9403G>T
n.2868G>T
c.5063G>T (p.Trp1688Leu)
c.5147G>T (p.Trp1716Leu)
c.5195G>T (p.Trp1732Leu)
c.4169G>T (p.Trp1390Leu)
c.3750G>T
c.3311G>T (p.Trp1104Leu)
c.*1128G>T (n.*1128G>T)
c.4464G>T
c.4040G>T (p.Trp1347Leu)
c.5237G>T (p.Trp1746Leu)
c.5234G>T (p.Trp1745Leu)
c.5189G>T (p.Trp1730Leu)
c.4313G>T (p.Trp1438Leu)
c.4082G>T (p.Trp1361Leu)
10g.94298407G>ACA377641711PLCE1c.4272G>A (p.Trp1424Ter)
c.*1739G>A (n.*1739G>A)
n.1931G>A
n.615G>A
c.*480G>A (n.*480G>A)
c.4224G>A (p.Trp1408Ter)
n.9404G>A
n.2869G>A
c.5064G>A (p.Trp1688Ter)
c.5148G>A (p.Trp1716Ter)
c.5196G>A (p.Trp1732Ter)
c.4170G>A (p.Trp1390Ter)
c.3751G>A
c.3312G>A (p.Trp1104Ter)
c.*1129G>A (n.*1129G>A)
c.4465G>A
c.4041G>A (p.Trp1347Ter)
c.5238G>A (p.Trp1746Ter)
c.5235G>A (p.Trp1745Ter)
c.5190G>A (p.Trp1730Ter)
c.4314G>A (p.Trp1438Ter)
c.4083G>A (p.Trp1361Ter)
10g.94298407G>CCA377641710PLCE1c.4272G>C (p.Trp1424Cys)
c.*1739G>C (n.*1739G>C)
n.1931G>C
n.615G>C
c.*480G>C (n.*480G>C)
c.4224G>C (p.Trp1408Cys)
n.9404G>C
n.2869G>C
c.5064G>C (p.Trp1688Cys)
c.5148G>C (p.Trp1716Cys)
c.5196G>C (p.Trp1732Cys)
c.4170G>C (p.Trp1390Cys)
c.3751G>C
c.3312G>C (p.Trp1104Cys)
c.*1129G>C (n.*1129G>C)
c.4465G>C
c.4041G>C (p.Trp1347Cys)
c.5238G>C (p.Trp1746Cys)
c.5235G>C (p.Trp1745Cys)
c.5190G>C (p.Trp1730Cys)
c.4314G>C (p.Trp1438Cys)
c.4083G>C (p.Trp1361Cys)
10g.94298407G>TCA377641709PLCE1c.4272G>T (p.Trp1424Cys)
c.*1739G>T (n.*1739G>T)
n.1931G>T
n.615G>T
c.*480G>T (n.*480G>T)
c.4224G>T (p.Trp1408Cys)
n.9404G>T
n.2869G>T
c.5064G>T (p.Trp1688Cys)
c.5148G>T (p.Trp1716Cys)
c.5196G>T (p.Trp1732Cys)
c.4170G>T (p.Trp1390Cys)
c.3751G>T
c.3312G>T (p.Trp1104Cys)
c.*1129G>T (n.*1129G>T)
c.4465G>T
c.4041G>T (p.Trp1347Cys)
c.5238G>T (p.Trp1746Cys)
c.5235G>T (p.Trp1745Cys)
c.5190G>T (p.Trp1730Cys)
c.4314G>T (p.Trp1438Cys)
c.4083G>T (p.Trp1361Cys)
10g.94298408G>ACA377641712PLCE1c.4273G>A (p.Glu1425Lys)
c.*1740G>A (n.*1740G>A)
n.1932G>A
n.616G>A
c.*481G>A (n.*481G>A)
c.4225G>A (p.Glu1409Lys)
n.9405G>A
n.2870G>A
c.5065G>A (p.Glu1689Lys)
c.5149G>A (p.Glu1717Lys)
c.5197G>A (p.Glu1733Lys)
c.4171G>A (p.Glu1391Lys)
c.3752G>A
c.3313G>A (p.Glu1105Lys)
c.*1130G>A (n.*1130G>A)
c.4466G>A
c.4042G>A (p.Glu1348Lys)
c.5239G>A (p.Glu1747Lys)
c.5236G>A (p.Glu1746Lys)
c.5191G>A (p.Glu1731Lys)
c.4315G>A (p.Glu1439Lys)
c.4084G>A (p.Glu1362Lys)
dbSNP
10g.94298408G>CCA377641714PLCE1c.4273G>C (p.Glu1425Gln)
c.*1740G>C (n.*1740G>C)
n.1932G>C
n.616G>C
c.*481G>C (n.*481G>C)
c.4225G>C (p.Glu1409Gln)
n.9405G>C
n.2870G>C
c.5065G>C (p.Glu1689Gln)
c.5149G>C (p.Glu1717Gln)
c.5197G>C (p.Glu1733Gln)
c.4171G>C (p.Glu1391Gln)
c.3752G>C
c.3313G>C (p.Glu1105Gln)
c.*1130G>C (n.*1130G>C)
c.4466G>C
c.4042G>C (p.Glu1348Gln)
c.5239G>C (p.Glu1747Gln)
c.5236G>C (p.Glu1746Gln)
c.5191G>C (p.Glu1731Gln)
c.4315G>C (p.Glu1439Gln)
c.4084G>C (p.Glu1362Gln)
gnomAD v4
10g.94298408G=CA1928998377PLCE1c.4273G= (p.Glu1425=)
c.*1740G= (n.*1740G=)
n.1932G=
n.616G=
c.*481G= (n.*481G=)
c.4225G= (p.Glu1409=)
n.9405G=
n.2870G=
c.5065G= (p.Glu1689=)
c.5149G= (p.Glu1717=)
c.5197G= (p.Glu1733=)
c.4171G= (p.Glu1391=)
c.3752G=
c.3313G= (p.Glu1105=)
c.*1130G= (n.*1130G=)
c.4466G=
c.4042G= (p.Glu1348=)
c.5239G= (p.Glu1747=)
c.5236G= (p.Glu1746=)
c.5191G= (p.Glu1731=)
c.4315G= (p.Glu1439=)
c.4084G= (p.Glu1362=)
10g.94298408G>TCA377641713PLCE1c.4273G>T (p.Glu1425Ter)
c.*1740G>T (n.*1740G>T)
n.1932G>T
n.616G>T
c.*481G>T (n.*481G>T)
c.4225G>T (p.Glu1409Ter)
n.9405G>T
n.2870G>T
c.5065G>T (p.Glu1689Ter)
c.5149G>T (p.Glu1717Ter)
c.5197G>T (p.Glu1733Ter)
c.4171G>T (p.Glu1391Ter)
c.3752G>T
c.3313G>T (p.Glu1105Ter)
c.*1130G>T (n.*1130G>T)
c.4466G>T
c.4042G>T (p.Glu1348Ter)
c.5239G>T (p.Glu1747Ter)
c.5236G>T (p.Glu1746Ter)
c.5191G>T (p.Glu1731Ter)
c.4315G>T (p.Glu1439Ter)
c.4084G>T (p.Glu1362Ter)
10g.94298409A=CA1928998378PLCE1c.4274A= (p.Glu1425=)
c.*1741A= (n.*1741A=)
n.1933A=
n.617A=
c.*482A= (n.*482A=)
c.4226A= (p.Glu1409=)
n.9406A=
n.2871A=
c.5066A= (p.Glu1689=)
c.5150A= (p.Glu1717=)
c.5198A= (p.Glu1733=)
c.4172A= (p.Glu1391=)
c.3753A=
c.3314A= (p.Glu1105=)
c.*1131A= (n.*1131A=)
c.4467A=
c.4043A= (p.Glu1348=)
c.5240A= (p.Glu1747=)
c.5237A= (p.Glu1746=)
c.5192A= (p.Glu1731=)
c.4316A= (p.Glu1439=)
c.4085A= (p.Glu1362=)
10g.94298409A>CCA377641715PLCE1c.4274A>C (p.Glu1425Ala)
c.*1741A>C (n.*1741A>C)
n.1933A>C
n.617A>C
c.*482A>C (n.*482A>C)
c.4226A>C (p.Glu1409Ala)
n.9406A>C
n.2871A>C
c.5066A>C (p.Glu1689Ala)
c.5150A>C (p.Glu1717Ala)
c.5198A>C (p.Glu1733Ala)
c.4172A>C (p.Glu1391Ala)
c.3753A>C
c.3314A>C (p.Glu1105Ala)
c.*1131A>C (n.*1131A>C)
c.4467A>C
c.4043A>C (p.Glu1348Ala)
c.5240A>C (p.Glu1747Ala)
c.5237A>C (p.Glu1746Ala)
c.5192A>C (p.Glu1731Ala)
c.4316A>C (p.Glu1439Ala)
c.4085A>C (p.Glu1362Ala)
10g.94298409A>GCA377641716PLCE1c.4274A>G (p.Glu1425Gly)
c.*1741A>G (n.*1741A>G)
n.1933A>G
n.617A>G
c.*482A>G (n.*482A>G)
c.4226A>G (p.Glu1409Gly)
n.9406A>G
n.2871A>G
c.5066A>G (p.Glu1689Gly)
c.5150A>G (p.Glu1717Gly)
c.5198A>G (p.Glu1733Gly)
c.4172A>G (p.Glu1391Gly)
c.3753A>G
c.3314A>G (p.Glu1105Gly)
c.*1131A>G (n.*1131A>G)
c.4467A>G
c.4043A>G (p.Glu1348Gly)
c.5240A>G (p.Glu1747Gly)
c.5237A>G (p.Glu1746Gly)
c.5192A>G (p.Glu1731Gly)
c.4316A>G (p.Glu1439Gly)
c.4085A>G (p.Glu1362Gly)
dbSNP
10g.94298409A>TCA377641717PLCE1c.4274A>T (p.Glu1425Val)
c.*1741A>T (n.*1741A>T)
n.1933A>T
n.617A>T
c.*482A>T (n.*482A>T)
c.4226A>T (p.Glu1409Val)
n.9406A>T
n.2871A>T
c.5066A>T (p.Glu1689Val)
c.5150A>T (p.Glu1717Val)
c.5198A>T (p.Glu1733Val)
c.4172A>T (p.Glu1391Val)
c.3753A>T
c.3314A>T (p.Glu1105Val)
c.*1131A>T (n.*1131A>T)
c.4467A>T
c.4043A>T (p.Glu1348Val)
c.5240A>T (p.Glu1747Val)
c.5237A>T (p.Glu1746Val)
c.5192A>T (p.Glu1731Val)
c.4316A>T (p.Glu1439Val)
c.4085A>T (p.Glu1362Val)
10g.94298410G>ACA470986414PLCE1c.4275G>A (p.Glu1425=)
c.*1742G>A (n.*1742G>A)
n.1934G>A
n.618G>A
c.*483G>A (n.*483G>A)
c.4227G>A (p.Glu1409=)
n.9407G>A
n.2872G>A
c.5067G>A (p.Glu1689=)
c.5151G>A (p.Glu1717=)
c.5199G>A (p.Glu1733=)
c.4173G>A (p.Glu1391=)
c.3754G>A
c.3315G>A (p.Glu1105=)
c.*1132G>A (n.*1132G>A)
c.4468G>A
c.4044G>A (p.Glu1348=)
c.5241G>A (p.Glu1747=)
c.5238G>A (p.Glu1746=)
c.5193G>A (p.Glu1731=)
c.4317G>A (p.Glu1439=)
c.4086G>A (p.Glu1362=)
10g.94298410G>CCA377641718PLCE1c.4275G>C (p.Glu1425Asp)
c.*1742G>C (n.*1742G>C)
n.1934G>C
n.618G>C
c.*483G>C (n.*483G>C)
c.4227G>C (p.Glu1409Asp)
n.9407G>C
n.2872G>C
c.5067G>C (p.Glu1689Asp)
c.5151G>C (p.Glu1717Asp)
c.5199G>C (p.Glu1733Asp)
c.4173G>C (p.Glu1391Asp)
c.3754G>C
c.3315G>C (p.Glu1105Asp)
c.*1132G>C (n.*1132G>C)
c.4468G>C
c.4044G>C (p.Glu1348Asp)
c.5241G>C (p.Glu1747Asp)
c.5238G>C (p.Glu1746Asp)
c.5193G>C (p.Glu1731Asp)
c.4317G>C (p.Glu1439Asp)
c.4086G>C (p.Glu1362Asp)
10g.94298410G>TCA377641719PLCE1c.4275G>T (p.Glu1425Asp)
c.*1742G>T (n.*1742G>T)
n.1934G>T
n.618G>T
c.*483G>T (n.*483G>T)
c.4227G>T (p.Glu1409Asp)
n.9407G>T
n.2872G>T
c.5067G>T (p.Glu1689Asp)
c.5151G>T (p.Glu1717Asp)
c.5199G>T (p.Glu1733Asp)
c.4173G>T (p.Glu1391Asp)
c.3754G>T
c.3315G>T (p.Glu1105Asp)
c.*1132G>T (n.*1132G>T)
c.4468G>T
c.4044G>T (p.Glu1348Asp)
c.5241G>T (p.Glu1747Asp)
c.5238G>T (p.Glu1746Asp)
c.5193G>T (p.Glu1731Asp)
c.4317G>T (p.Glu1439Asp)
c.4086G>T (p.Glu1362Asp)
10g.94298411G>ACA211599559PLCE1c.4276G>A (p.Glu1426Lys)
c.*1743G>A (n.*1743G>A)
n.1935G>A
n.619G>A
c.*484G>A (n.*484G>A)
c.4228G>A (p.Glu1410Lys)
n.9408G>A
n.2873G>A
c.5068G>A (p.Glu1690Lys)
c.5152G>A (p.Glu1718Lys)
c.5200G>A (p.Glu1734Lys)
c.4174G>A (p.Glu1392Lys)
c.3755G>A
c.3316G>A (p.Glu1106Lys)
c.*1133G>A (n.*1133G>A)
c.4469G>A
c.4045G>A (p.Glu1349Lys)
c.5242G>A (p.Glu1748Lys)
c.5239G>A (p.Glu1747Lys)
c.5194G>A (p.Glu1732Lys)
c.4318G>A (p.Glu1440Lys)
c.4087G>A (p.Glu1363Lys)
dbSNP
10g.94298411G>CCA377641720PLCE1c.4276G>C (p.Glu1426Gln)
c.*1743G>C (n.*1743G>C)
n.1935G>C
n.619G>C
c.*484G>C (n.*484G>C)
c.4228G>C (p.Glu1410Gln)
n.9408G>C
n.2873G>C
c.5068G>C (p.Glu1690Gln)
c.5152G>C (p.Glu1718Gln)
c.5200G>C (p.Glu1734Gln)
c.4174G>C (p.Glu1392Gln)
c.3755G>C
c.3316G>C (p.Glu1106Gln)
c.*1133G>C (n.*1133G>C)
c.4469G>C
c.4045G>C (p.Glu1349Gln)
c.5242G>C (p.Glu1748Gln)
c.5239G>C (p.Glu1747Gln)
c.5194G>C (p.Glu1732Gln)
c.4318G>C (p.Glu1440Gln)
c.4087G>C (p.Glu1363Gln)
10g.94298411G=CA1928998379PLCE1c.4276G= (p.Glu1426=)
c.*1743G= (n.*1743G=)
n.1935G=
n.619G=
c.*484G= (n.*484G=)
c.4228G= (p.Glu1410=)
n.9408G=
n.2873G=
c.5068G= (p.Glu1690=)
c.5152G= (p.Glu1718=)
c.5200G= (p.Glu1734=)
c.4174G= (p.Glu1392=)
c.3755G=
c.3316G= (p.Glu1106=)
c.*1133G= (n.*1133G=)
c.4469G=
c.4045G= (p.Glu1349=)
c.5242G= (p.Glu1748=)
c.5239G= (p.Glu1747=)
c.5194G= (p.Glu1732=)
c.4318G= (p.Glu1440=)
c.4087G= (p.Glu1363=)
10g.94298411G>TCA377641721PLCE1c.4276G>T (p.Glu1426Ter)
c.*1743G>T (n.*1743G>T)
n.1935G>T
n.619G>T
c.*484G>T (n.*484G>T)
c.4228G>T (p.Glu1410Ter)
n.9408G>T
n.2873G>T
c.5068G>T (p.Glu1690Ter)
c.5152G>T (p.Glu1718Ter)
c.5200G>T (p.Glu1734Ter)
c.4174G>T (p.Glu1392Ter)
c.3755G>T
c.3316G>T (p.Glu1106Ter)
c.*1133G>T (n.*1133G>T)
c.4469G>T
c.4045G>T (p.Glu1349Ter)
c.5242G>T (p.Glu1748Ter)
c.5239G>T (p.Glu1747Ter)
c.5194G>T (p.Glu1732Ter)
c.4318G>T (p.Glu1440Ter)
c.4087G>T (p.Glu1363Ter)
dbSNP gnomAD v2 gnomAD v4
10g.94298412A=CA1928998380PLCE1c.4277A= (p.Glu1426=)
c.*1744A= (n.*1744A=)
n.1936A=
n.620A=
c.*485A= (n.*485A=)
c.4229A= (p.Glu1410=)
n.9409A=
n.2874A=
c.5069A= (p.Glu1690=)
c.5153A= (p.Glu1718=)
c.5201A= (p.Glu1734=)
c.4175A= (p.Glu1392=)
c.3756A=
c.3317A= (p.Glu1106=)
c.*1134A= (n.*1134A=)
c.4470A=
c.4046A= (p.Glu1349=)
c.5243A= (p.Glu1748=)
c.5240A= (p.Glu1747=)
c.5195A= (p.Glu1732=)
c.4319A= (p.Glu1440=)
c.4088A= (p.Glu1363=)
10g.94298412A>CCA377641722PLCE1c.4277A>C (p.Glu1426Ala)
c.*1744A>C (n.*1744A>C)
n.1936A>C
n.620A>C
c.*485A>C (n.*485A>C)
c.4229A>C (p.Glu1410Ala)
n.9409A>C
n.2874A>C
c.5069A>C (p.Glu1690Ala)
c.5153A>C (p.Glu1718Ala)
c.5201A>C (p.Glu1734Ala)
c.4175A>C (p.Glu1392Ala)
c.3756A>C
c.3317A>C (p.Glu1106Ala)
c.*1134A>C (n.*1134A>C)
c.4470A>C
c.4046A>C (p.Glu1349Ala)
c.5243A>C (p.Glu1748Ala)
c.5240A>C (p.Glu1747Ala)
c.5195A>C (p.Glu1732Ala)
c.4319A>C (p.Glu1440Ala)
c.4088A>C (p.Glu1363Ala)
10g.94298412A>GCA377641723PLCE1c.4277A>G (p.Glu1426Gly)
c.*1744A>G (n.*1744A>G)
n.1936A>G
n.620A>G
c.*485A>G (n.*485A>G)
c.4229A>G (p.Glu1410Gly)
n.9409A>G
n.2874A>G
c.5069A>G (p.Glu1690Gly)
c.5153A>G (p.Glu1718Gly)
c.5201A>G (p.Glu1734Gly)
c.4175A>G (p.Glu1392Gly)
c.3756A>G
c.3317A>G (p.Glu1106Gly)
c.*1134A>G (n.*1134A>G)
c.4470A>G
c.4046A>G (p.Glu1349Gly)
c.5243A>G (p.Glu1748Gly)
c.5240A>G (p.Glu1747Gly)
c.5195A>G (p.Glu1732Gly)
c.4319A>G (p.Glu1440Gly)
c.4088A>G (p.Glu1363Gly)
10g.94298412A>TCA377641724PLCE1c.4277A>T (p.Glu1426Val)
c.*1744A>T (n.*1744A>T)
n.1936A>T
n.620A>T
c.*485A>T (n.*485A>T)
c.4229A>T (p.Glu1410Val)
n.9409A>T
n.2874A>T
c.5069A>T (p.Glu1690Val)
c.5153A>T (p.Glu1718Val)
c.5201A>T (p.Glu1734Val)
c.4175A>T (p.Glu1392Val)
c.3756A>T
c.3317A>T (p.Glu1106Val)
c.*1134A>T (n.*1134A>T)
c.4470A>T
c.4046A>T (p.Glu1349Val)
c.5243A>T (p.Glu1748Val)
c.5240A>T (p.Glu1747Val)
c.5195A>T (p.Glu1732Val)
c.4319A>T (p.Glu1440Val)
c.4088A>T (p.Glu1363Val)
dbSNP gnomAD v2 gnomAD v4
10g.94298413A>CCA377641725PLCE1c.4278A>C (p.Glu1426Asp)
c.*1745A>C (n.*1745A>C)
n.1937A>C
n.621A>C
c.*486A>C (n.*486A>C)
c.4230A>C (p.Glu1410Asp)
n.9410A>C
n.2875A>C
c.5070A>C (p.Glu1690Asp)
c.5154A>C (p.Glu1718Asp)
c.5202A>C (p.Glu1734Asp)
c.4176A>C (p.Glu1392Asp)
c.3757A>C
c.3318A>C (p.Glu1106Asp)
c.*1135A>C (n.*1135A>C)
c.4471A>C
c.4047A>C (p.Glu1349Asp)
c.5244A>C (p.Glu1748Asp)
c.5241A>C (p.Glu1747Asp)
c.5196A>C (p.Glu1732Asp)
c.4320A>C (p.Glu1440Asp)
c.4089A>C (p.Glu1363Asp)
10g.94298413A>GCA470986415PLCE1c.4278A>G (p.Glu1426=)
c.*1745A>G (n.*1745A>G)
n.1937A>G
n.621A>G
c.*486A>G (n.*486A>G)
c.4230A>G (p.Glu1410=)
n.9410A>G
n.2875A>G
c.5070A>G (p.Glu1690=)
c.5154A>G (p.Glu1718=)
c.5202A>G (p.Glu1734=)
c.4176A>G (p.Glu1392=)
c.3757A>G
c.3318A>G (p.Glu1106=)
c.*1135A>G (n.*1135A>G)
c.4471A>G
c.4047A>G (p.Glu1349=)
c.5244A>G (p.Glu1748=)
c.5241A>G (p.Glu1747=)
c.5196A>G (p.Glu1732=)
c.4320A>G (p.Glu1440=)
c.4089A>G (p.Glu1363=)
10g.94298413A>TCA377641726PLCE1c.4278A>T (p.Glu1426Asp)
c.*1745A>T (n.*1745A>T)
n.1937A>T
n.621A>T
c.*486A>T (n.*486A>T)
c.4230A>T (p.Glu1410Asp)
n.9410A>T
n.2875A>T
c.5070A>T (p.Glu1690Asp)
c.5154A>T (p.Glu1718Asp)
c.5202A>T (p.Glu1734Asp)
c.4176A>T (p.Glu1392Asp)
c.3757A>T
c.3318A>T (p.Glu1106Asp)
c.*1135A>T (n.*1135A>T)
c.4471A>T
c.4047A>T (p.Glu1349Asp)
c.5244A>T (p.Glu1748Asp)
c.5241A>T (p.Glu1747Asp)
c.5196A>T (p.Glu1732Asp)
c.4320A>T (p.Glu1440Asp)
c.4089A>T (p.Glu1363Asp)
10g.94298414T>ACA377641729PLCE1c.4279T>A (p.Ser1427Thr)
c.*1746T>A (n.*1746T>A)
n.1938T>A
n.622T>A
c.*487T>A (n.*487T>A)
c.4231T>A (p.Ser1411Thr)
n.9411T>A
n.2876T>A
c.5071T>A (p.Ser1691Thr)
c.5155T>A (p.Ser1719Thr)
c.5203T>A (p.Ser1735Thr)
c.4177T>A (p.Ser1393Thr)
c.3758T>A
c.3319T>A (p.Ser1107Thr)
c.*1136T>A (n.*1136T>A)
c.4472T>A
c.4048T>A (p.Ser1350Thr)
c.5245T>A (p.Ser1749Thr)
c.5242T>A (p.Ser1748Thr)
c.5197T>A (p.Ser1733Thr)
c.4321T>A (p.Ser1441Thr)
c.4090T>A (p.Ser1364Thr)
COSMIC COSMIC COSMIC COSMIC
10g.94298414T>CCA377641727PLCE1c.4279T>C (p.Ser1427Pro)
c.*1746T>C (n.*1746T>C)
n.1938T>C
n.622T>C
c.*487T>C (n.*487T>C)
c.4231T>C (p.Ser1411Pro)
n.9411T>C
n.2876T>C
c.5071T>C (p.Ser1691Pro)
c.5155T>C (p.Ser1719Pro)
c.5203T>C (p.Ser1735Pro)
c.4177T>C (p.Ser1393Pro)
c.3758T>C
c.3319T>C (p.Ser1107Pro)
c.*1136T>C (n.*1136T>C)
c.4472T>C
c.4048T>C (p.Ser1350Pro)
c.5245T>C (p.Ser1749Pro)
c.5242T>C (p.Ser1748Pro)
c.5197T>C (p.Ser1733Pro)
c.4321T>C (p.Ser1441Pro)
c.4090T>C (p.Ser1364Pro)
10g.94298414T>GCA377641728PLCE1c.4279T>G (p.Ser1427Ala)
c.*1746T>G (n.*1746T>G)
n.1938T>G
n.622T>G
c.*487T>G (n.*487T>G)
c.4231T>G (p.Ser1411Ala)
n.9411T>G
n.2876T>G
c.5071T>G (p.Ser1691Ala)
c.5155T>G (p.Ser1719Ala)
c.5203T>G (p.Ser1735Ala)
c.4177T>G (p.Ser1393Ala)
c.3758T>G
c.3319T>G (p.Ser1107Ala)
c.*1136T>G (n.*1136T>G)
c.4472T>G
c.4048T>G (p.Ser1350Ala)
c.5245T>G (p.Ser1749Ala)
c.5242T>G (p.Ser1748Ala)
c.5197T>G (p.Ser1733Ala)
c.4321T>G (p.Ser1441Ala)
c.4090T>G (p.Ser1364Ala)
10g.94298415C>ACA377641730PLCE1c.4280C>A (p.Ser1427Tyr)
c.*1747C>A (n.*1747C>A)
n.1939C>A
n.623C>A
c.*488C>A (n.*488C>A)
c.4232C>A (p.Ser1411Tyr)
n.9412C>A
n.2877C>A
c.5072C>A (p.Ser1691Tyr)
c.5156C>A (p.Ser1719Tyr)
c.5204C>A (p.Ser1735Tyr)
c.4178C>A (p.Ser1393Tyr)
c.3759C>A
c.3320C>A (p.Ser1107Tyr)
c.*1137C>A (n.*1137C>A)
c.4473C>A
c.4049C>A (p.Ser1350Tyr)
c.5246C>A (p.Ser1749Tyr)
c.5243C>A (p.Ser1748Tyr)
c.5198C>A (p.Ser1733Tyr)
c.4322C>A (p.Ser1441Tyr)
c.4091C>A (p.Ser1364Tyr)
COSMIC COSMIC COSMIC COSMIC
10g.94298415C>GCA377641731PLCE1c.4280C>G (p.Ser1427Cys)
c.*1747C>G (n.*1747C>G)
n.1939C>G
n.623C>G
c.*488C>G (n.*488C>G)
c.4232C>G (p.Ser1411Cys)
n.9412C>G
n.2877C>G
c.5072C>G (p.Ser1691Cys)
c.5156C>G (p.Ser1719Cys)
c.5204C>G (p.Ser1735Cys)
c.4178C>G (p.Ser1393Cys)
c.3759C>G
c.3320C>G (p.Ser1107Cys)
c.*1137C>G (n.*1137C>G)
c.4473C>G
c.4049C>G (p.Ser1350Cys)
c.5246C>G (p.Ser1749Cys)
c.5243C>G (p.Ser1748Cys)
c.5198C>G (p.Ser1733Cys)
c.4322C>G (p.Ser1441Cys)
c.4091C>G (p.Ser1364Cys)
10g.94298415C>TCA377641732PLCE1c.4280C>T (p.Ser1427Phe)
c.*1747C>T (n.*1747C>T)
n.1939C>T
n.623C>T
c.*488C>T (n.*488C>T)
c.4232C>T (p.Ser1411Phe)
n.9412C>T
n.2877C>T
c.5072C>T (p.Ser1691Phe)
c.5156C>T (p.Ser1719Phe)
c.5204C>T (p.Ser1735Phe)
c.4178C>T (p.Ser1393Phe)
c.3759C>T
c.3320C>T (p.Ser1107Phe)
c.*1137C>T (n.*1137C>T)
c.4473C>T
c.4049C>T (p.Ser1350Phe)
c.5246C>T (p.Ser1749Phe)
c.5243C>T (p.Ser1748Phe)
c.5198C>T (p.Ser1733Phe)
c.4322C>T (p.Ser1441Phe)
c.4091C>T (p.Ser1364Phe)
10g.94298416T>ACA5613317PLCE1c.4281T>A (p.Ser1427=)
c.*1748T>A (n.*1748T>A)
n.1940T>A
n.624T>A
c.*489T>A (n.*489T>A)
c.4233T>A (p.Ser1411=)
n.9413T>A
n.2878T>A
c.5073T>A (p.Ser1691=)
c.5157T>A (p.Ser1719=)
c.5205T>A (p.Ser1735=)
c.4179T>A (p.Ser1393=)
c.3760T>A
c.3321T>A (p.Ser1107=)
c.*1138T>A (n.*1138T>A)
c.4474T>A
c.4050T>A (p.Ser1350=)
c.5247T>A (p.Ser1749=)
c.5244T>A (p.Ser1748=)
c.5199T>A (p.Ser1733=)
c.4323T>A (p.Ser1441=)
c.4092T>A (p.Ser1364=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298416T>CCA5613316PLCE1c.4281T>C (p.Ser1427=)
c.*1748T>C (n.*1748T>C)
n.1940T>C
n.624T>C
c.*489T>C (n.*489T>C)
c.4233T>C (p.Ser1411=)
n.9413T>C
n.2878T>C
c.5073T>C (p.Ser1691=)
c.5157T>C (p.Ser1719=)
c.5205T>C (p.Ser1735=)
c.4179T>C (p.Ser1393=)
c.3760T>C
c.3321T>C (p.Ser1107=)
c.*1138T>C (n.*1138T>C)
c.4474T>C
c.4050T>C (p.Ser1350=)
c.5247T>C (p.Ser1749=)
c.5244T>C (p.Ser1748=)
c.5199T>C (p.Ser1733=)
c.4323T>C (p.Ser1441=)
c.4092T>C (p.Ser1364=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298416T>GCA470986416PLCE1c.4281T>G (p.Ser1427=)
c.*1748T>G (n.*1748T>G)
n.1940T>G
n.624T>G
c.*489T>G (n.*489T>G)
c.4233T>G (p.Ser1411=)
n.9413T>G
n.2878T>G
c.5073T>G (p.Ser1691=)
c.5157T>G (p.Ser1719=)
c.5205T>G (p.Ser1735=)
c.4179T>G (p.Ser1393=)
c.3760T>G
c.3321T>G (p.Ser1107=)
c.*1138T>G (n.*1138T>G)
c.4474T>G
c.4050T>G (p.Ser1350=)
c.5247T>G (p.Ser1749=)
c.5244T>G (p.Ser1748=)
c.5199T>G (p.Ser1733=)
c.4323T>G (p.Ser1441=)
c.4092T>G (p.Ser1364=)
10g.94298416T=CA1928998381PLCE1c.4281T= (p.Ser1427=)
c.*1748T= (n.*1748T=)
n.1940T=
n.624T=
c.*489T= (n.*489T=)
c.4233T= (p.Ser1411=)
n.9413T=
n.2878T=
c.5073T= (p.Ser1691=)
c.5157T= (p.Ser1719=)
c.5205T= (p.Ser1735=)
c.4179T= (p.Ser1393=)
c.3760T=
c.3321T= (p.Ser1107=)
c.*1138T= (n.*1138T=)
c.4474T=
c.4050T= (p.Ser1350=)
c.5247T= (p.Ser1749=)
c.5244T= (p.Ser1748=)
c.5199T= (p.Ser1733=)
c.4323T= (p.Ser1441=)
c.4092T= (p.Ser1364=)
10g.94298417T>ACA377641733PLCE1c.4282T>A (p.Ser1428Thr)
c.*1749T>A (n.*1749T>A)
n.1941T>A
n.625T>A
c.*490T>A (n.*490T>A)
c.4234T>A (p.Ser1412Thr)
n.9414T>A
n.2879T>A
c.5074T>A (p.Ser1692Thr)
c.5158T>A (p.Ser1720Thr)
c.5206T>A (p.Ser1736Thr)
c.4180T>A (p.Ser1394Thr)
c.3761T>A
c.3322T>A (p.Ser1108Thr)
c.*1139T>A (n.*1139T>A)
c.4475T>A
c.4051T>A (p.Ser1351Thr)
c.5248T>A (p.Ser1750Thr)
c.5245T>A (p.Ser1749Thr)
c.5200T>A (p.Ser1734Thr)
c.4324T>A (p.Ser1442Thr)
c.4093T>A (p.Ser1365Thr)
10g.94298417T>CCA377641734PLCE1c.4282T>C (p.Ser1428Pro)
c.*1749T>C (n.*1749T>C)
n.1941T>C
n.625T>C
c.*490T>C (n.*490T>C)
c.4234T>C (p.Ser1412Pro)
n.9414T>C
n.2879T>C
c.5074T>C (p.Ser1692Pro)
c.5158T>C (p.Ser1720Pro)
c.5206T>C (p.Ser1736Pro)
c.4180T>C (p.Ser1394Pro)
c.3761T>C
c.3322T>C (p.Ser1108Pro)
c.*1139T>C (n.*1139T>C)
c.4475T>C
c.4051T>C (p.Ser1351Pro)
c.5248T>C (p.Ser1750Pro)
c.5245T>C (p.Ser1749Pro)
c.5200T>C (p.Ser1734Pro)
c.4324T>C (p.Ser1442Pro)
c.4093T>C (p.Ser1365Pro)
10g.94298417T>GCA5613318PLCE1c.4282T>G (p.Ser1428Ala)
c.*1749T>G (n.*1749T>G)
n.1941T>G
n.625T>G
c.*490T>G (n.*490T>G)
c.4234T>G (p.Ser1412Ala)
n.9414T>G
n.2879T>G
c.5074T>G (p.Ser1692Ala)
c.5158T>G (p.Ser1720Ala)
c.5206T>G (p.Ser1736Ala)
c.4180T>G (p.Ser1394Ala)
c.3761T>G
c.3322T>G (p.Ser1108Ala)
c.*1139T>G (n.*1139T>G)
c.4475T>G
c.4051T>G (p.Ser1351Ala)
c.5248T>G (p.Ser1750Ala)
c.5245T>G (p.Ser1749Ala)
c.5200T>G (p.Ser1734Ala)
c.4324T>G (p.Ser1442Ala)
c.4093T>G (p.Ser1365Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298417T=CA1928998382PLCE1c.4282T= (p.Ser1428=)
c.*1749T= (n.*1749T=)
n.1941T=
n.625T=
c.*490T= (n.*490T=)
c.4234T= (p.Ser1412=)
n.9414T=
n.2879T=
c.5074T= (p.Ser1692=)
c.5158T= (p.Ser1720=)
c.5206T= (p.Ser1736=)
c.4180T= (p.Ser1394=)
c.3761T=
c.3322T= (p.Ser1108=)
c.*1139T= (n.*1139T=)
c.4475T=
c.4051T= (p.Ser1351=)
c.5248T= (p.Ser1750=)
c.5245T= (p.Ser1749=)
c.5200T= (p.Ser1734=)
c.4324T= (p.Ser1442=)
c.4093T= (p.Ser1365=)
10g.94298418C>ACA377641735PLCE1c.4283C>A (p.Ser1428Tyr)
c.*1750C>A (n.*1750C>A)
n.1942C>A
n.626C>A
c.*491C>A (n.*491C>A)
c.4235C>A (p.Ser1412Tyr)
n.9415C>A
n.2880C>A
c.5075C>A (p.Ser1692Tyr)
c.5159C>A (p.Ser1720Tyr)
c.5207C>A (p.Ser1736Tyr)
c.4181C>A (p.Ser1394Tyr)
c.3762C>A
c.3323C>A (p.Ser1108Tyr)
c.*1140C>A (n.*1140C>A)
c.4476C>A
c.4052C>A (p.Ser1351Tyr)
c.5249C>A (p.Ser1750Tyr)
c.5246C>A (p.Ser1749Tyr)
c.5201C>A (p.Ser1734Tyr)
c.4325C>A (p.Ser1442Tyr)
c.4094C>A (p.Ser1365Tyr)
10g.94298418C=CA1928998383PLCE1c.4283C= (p.Ser1428=)
c.*1750C= (n.*1750C=)
n.1942C=
n.626C=
c.*491C= (n.*491C=)
c.4235C= (p.Ser1412=)
n.9415C=
n.2880C=
c.5075C= (p.Ser1692=)
c.5159C= (p.Ser1720=)
c.5207C= (p.Ser1736=)
c.4181C= (p.Ser1394=)
c.3762C=
c.3323C= (p.Ser1108=)
c.*1140C= (n.*1140C=)
c.4476C=
c.4052C= (p.Ser1351=)
c.5249C= (p.Ser1750=)
c.5246C= (p.Ser1749=)
c.5201C= (p.Ser1734=)
c.4325C= (p.Ser1442=)
c.4094C= (p.Ser1365=)
10g.94298418C>GCA377641736PLCE1c.4283C>G (p.Ser1428Cys)
c.*1750C>G (n.*1750C>G)
n.1942C>G
n.626C>G
c.*491C>G (n.*491C>G)
c.4235C>G (p.Ser1412Cys)
n.9415C>G
n.2880C>G
c.5075C>G (p.Ser1692Cys)
c.5159C>G (p.Ser1720Cys)
c.5207C>G (p.Ser1736Cys)
c.4181C>G (p.Ser1394Cys)
c.3762C>G
c.3323C>G (p.Ser1108Cys)
c.*1140C>G (n.*1140C>G)
c.4476C>G
c.4052C>G (p.Ser1351Cys)
c.5249C>G (p.Ser1750Cys)
c.5246C>G (p.Ser1749Cys)
c.5201C>G (p.Ser1734Cys)
c.4325C>G (p.Ser1442Cys)
c.4094C>G (p.Ser1365Cys)
10g.94298418C>TCA377641737PLCE1c.4283C>T (p.Ser1428Phe)
c.*1750C>T (n.*1750C>T)
n.1942C>T
n.626C>T
c.*491C>T (n.*491C>T)
c.4235C>T (p.Ser1412Phe)
n.9415C>T
n.2880C>T
c.5075C>T (p.Ser1692Phe)
c.5159C>T (p.Ser1720Phe)
c.5207C>T (p.Ser1736Phe)
c.4181C>T (p.Ser1394Phe)
c.3762C>T
c.3323C>T (p.Ser1108Phe)
c.*1140C>T (n.*1140C>T)
c.4476C>T
c.4052C>T (p.Ser1351Phe)
c.5249C>T (p.Ser1750Phe)
c.5246C>T (p.Ser1749Phe)
c.5201C>T (p.Ser1734Phe)
c.4325C>T (p.Ser1442Phe)
c.4094C>T (p.Ser1365Phe)
dbSNP gnomAD v2 gnomAD v4
10g.94298419T>ACA470986420PLCE1c.4284T>A (p.Ser1428=)
c.*1751T>A (n.*1751T>A)
n.1943T>A
n.627T>A
c.*492T>A (n.*492T>A)
c.4236T>A (p.Ser1412=)
n.9416T>A
n.2881T>A
c.5076T>A (p.Ser1692=)
c.5160T>A (p.Ser1720=)
c.5208T>A (p.Ser1736=)
c.4182T>A (p.Ser1394=)
c.3763T>A
c.3324T>A (p.Ser1108=)
c.*1141T>A (n.*1141T>A)
c.4477T>A
c.4053T>A (p.Ser1351=)
c.5250T>A (p.Ser1750=)
c.5247T>A (p.Ser1749=)
c.5202T>A (p.Ser1734=)
c.4326T>A (p.Ser1442=)
c.4095T>A (p.Ser1365=)
10g.94298419T>CCA470986421PLCE1c.4284T>C (p.Ser1428=)
c.*1751T>C (n.*1751T>C)
n.1943T>C
n.627T>C
c.*492T>C (n.*492T>C)
c.4236T>C (p.Ser1412=)
n.9416T>C
n.2881T>C
c.5076T>C (p.Ser1692=)
c.5160T>C (p.Ser1720=)
c.5208T>C (p.Ser1736=)
c.4182T>C (p.Ser1394=)
c.3763T>C
c.3324T>C (p.Ser1108=)
c.*1141T>C (n.*1141T>C)
c.4477T>C
c.4053T>C (p.Ser1351=)
c.5250T>C (p.Ser1750=)
c.5247T>C (p.Ser1749=)
c.5202T>C (p.Ser1734=)
c.4326T>C (p.Ser1442=)
c.4095T>C (p.Ser1365=)
dbSNP gnomAD v4
10g.94298419T>GCA5613319PLCE1c.4284T>G (p.Ser1428=)
c.*1751T>G (n.*1751T>G)
n.1943T>G
n.627T>G
c.*492T>G (n.*492T>G)
c.4236T>G (p.Ser1412=)
n.9416T>G
n.2881T>G
c.5076T>G (p.Ser1692=)
c.5160T>G (p.Ser1720=)
c.5208T>G (p.Ser1736=)
c.4182T>G (p.Ser1394=)
c.3763T>G
c.3324T>G (p.Ser1108=)
c.*1141T>G (n.*1141T>G)
c.4477T>G
c.4053T>G (p.Ser1351=)
c.5250T>G (p.Ser1750=)
c.5247T>G (p.Ser1749=)
c.5202T>G (p.Ser1734=)
c.4326T>G (p.Ser1442=)
c.4095T>G (p.Ser1365=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.94298419T=CA1928998384PLCE1c.4284T= (p.Ser1428=)
c.*1751T= (n.*1751T=)
n.1943T=
n.627T=
c.*492T= (n.*492T=)
c.4236T= (p.Ser1412=)
n.9416T=
n.2881T=
c.5076T= (p.Ser1692=)
c.5160T= (p.Ser1720=)
c.5208T= (p.Ser1736=)
c.4182T= (p.Ser1394=)
c.3763T=
c.3324T= (p.Ser1108=)
c.*1141T= (n.*1141T=)
c.4477T=
c.4053T= (p.Ser1351=)
c.5250T= (p.Ser1750=)
c.5247T= (p.Ser1749=)
c.5202T= (p.Ser1734=)
c.4326T= (p.Ser1442=)
c.4095T= (p.Ser1365=)
10g.94298420T>ACA377641738PLCE1c.4285T>A (p.Ser1429Thr)
c.*1752T>A (n.*1752T>A)
n.1944T>A
n.628T>A
c.*493T>A (n.*493T>A)
c.4237T>A (p.Ser1413Thr)
n.9417T>A
n.2882T>A
c.5077T>A (p.Ser1693Thr)
c.5161T>A (p.Ser1721Thr)
c.5209T>A (p.Ser1737Thr)
c.4183T>A (p.Ser1395Thr)
c.3764T>A
c.3325T>A (p.Ser1109Thr)
c.*1142T>A (n.*1142T>A)
c.4478T>A
c.4054T>A (p.Ser1352Thr)
c.5251T>A (p.Ser1751Thr)
c.5248T>A (p.Ser1750Thr)
c.5203T>A (p.Ser1735Thr)
c.4327T>A (p.Ser1443Thr)
c.4096T>A (p.Ser1366Thr)
10g.94298420T>CCA377641740PLCE1c.4285T>C (p.Ser1429Pro)
c.*1752T>C (n.*1752T>C)
n.1944T>C
n.628T>C
c.*493T>C (n.*493T>C)
c.4237T>C (p.Ser1413Pro)
n.9417T>C
n.2882T>C
c.5077T>C (p.Ser1693Pro)
c.5161T>C (p.Ser1721Pro)
c.5209T>C (p.Ser1737Pro)
c.4183T>C (p.Ser1395Pro)
c.3764T>C
c.3325T>C (p.Ser1109Pro)
c.*1142T>C (n.*1142T>C)
c.4478T>C
c.4054T>C (p.Ser1352Pro)
c.5251T>C (p.Ser1751Pro)
c.5248T>C (p.Ser1750Pro)
c.5203T>C (p.Ser1735Pro)
c.4327T>C (p.Ser1443Pro)
c.4096T>C (p.Ser1366Pro)
10g.94298420T>GCA377641739PLCE1c.4285T>G (p.Ser1429Ala)
c.*1752T>G (n.*1752T>G)
n.1944T>G
n.628T>G
c.*493T>G (n.*493T>G)
c.4237T>G (p.Ser1413Ala)
n.9417T>G
n.2882T>G
c.5077T>G (p.Ser1693Ala)
c.5161T>G (p.Ser1721Ala)
c.5209T>G (p.Ser1737Ala)
c.4183T>G (p.Ser1395Ala)
c.3764T>G
c.3325T>G (p.Ser1109Ala)
c.*1142T>G (n.*1142T>G)
c.4478T>G
c.4054T>G (p.Ser1352Ala)
c.5251T>G (p.Ser1751Ala)
c.5248T>G (p.Ser1750Ala)
c.5203T>G (p.Ser1735Ala)
c.4327T>G (p.Ser1443Ala)
c.4096T>G (p.Ser1366Ala)
10g.94298421C>ACA377641741PLCE1c.4286C>A (p.Ser1429Tyr)
c.*1753C>A (n.*1753C>A)
n.1945C>A
n.629C>A
c.*494C>A (n.*494C>A)
c.4238C>A (p.Ser1413Tyr)
n.9418C>A
n.2883C>A
c.5078C>A (p.Ser1693Tyr)
c.5162C>A (p.Ser1721Tyr)
c.5210C>A (p.Ser1737Tyr)
c.4184C>A (p.Ser1395Tyr)
c.3765C>A
c.3326C>A (p.Ser1109Tyr)
c.*1143C>A (n.*1143C>A)
c.4479C>A
c.4055C>A (p.Ser1352Tyr)
c.5252C>A (p.Ser1751Tyr)
c.5249C>A (p.Ser1750Tyr)
c.5204C>A (p.Ser1735Tyr)
c.4328C>A (p.Ser1443Tyr)
c.4097C>A (p.Ser1366Tyr)
10g.94298421C=CA1928998385PLCE1c.4286C= (p.Ser1429=)
c.*1753C= (n.*1753C=)
n.1945C=
n.629C=
c.*494C= (n.*494C=)
c.4238C= (p.Ser1413=)
n.9418C=
n.2883C=
c.5078C= (p.Ser1693=)
c.5162C= (p.Ser1721=)
c.5210C= (p.Ser1737=)
c.4184C= (p.Ser1395=)
c.3765C=
c.3326C= (p.Ser1109=)
c.*1143C= (n.*1143C=)
c.4479C=
c.4055C= (p.Ser1352=)
c.5252C= (p.Ser1751=)
c.5249C= (p.Ser1750=)
c.5204C= (p.Ser1735=)
c.4328C= (p.Ser1443=)
c.4097C= (p.Ser1366=)
10g.94298421C>GCA377641742PLCE1c.4286C>G (p.Ser1429Cys)
c.*1753C>G (n.*1753C>G)
n.1945C>G
n.629C>G
c.*494C>G (n.*494C>G)
c.4238C>G (p.Ser1413Cys)
n.9418C>G
n.2883C>G
c.5078C>G (p.Ser1693Cys)
c.5162C>G (p.Ser1721Cys)
c.5210C>G (p.Ser1737Cys)
c.4184C>G (p.Ser1395Cys)
c.3765C>G
c.3326C>G (p.Ser1109Cys)
c.*1143C>G (n.*1143C>G)
c.4479C>G
c.4055C>G (p.Ser1352Cys)
c.5252C>G (p.Ser1751Cys)
c.5249C>G (p.Ser1750Cys)
c.5204C>G (p.Ser1735Cys)
c.4328C>G (p.Ser1443Cys)
c.4097C>G (p.Ser1366Cys)
10g.94298421C>TCA5613320PLCE1c.4286C>T (p.Ser1429Phe)
c.*1753C>T (n.*1753C>T)
n.1945C>T
n.629C>T
c.*494C>T (n.*494C>T)
c.4238C>T (p.Ser1413Phe)
n.9418C>T
n.2883C>T
c.5078C>T (p.Ser1693Phe)
c.5162C>T (p.Ser1721Phe)
c.5210C>T (p.Ser1737Phe)
c.4184C>T (p.Ser1395Phe)
c.3765C>T
c.3326C>T (p.Ser1109Phe)
c.*1143C>T (n.*1143C>T)
c.4479C>T
c.4055C>T (p.Ser1352Phe)
c.5252C>T (p.Ser1751Phe)
c.5249C>T (p.Ser1750Phe)
c.5204C>T (p.Ser1735Phe)
c.4328C>T (p.Ser1443Phe)
c.4097C>T (p.Ser1366Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.94298422C>ACA470986423PLCE1c.4287C>A (p.Ser1429=)
c.*1754C>A (n.*1754C>A)
n.1946C>A
n.630C>A
c.*495C>A (n.*495C>A)
c.4239C>A (p.Ser1413=)
n.9419C>A
n.2884C>A
c.5079C>A (p.Ser1693=)
c.5163C>A (p.Ser1721=)
c.5211C>A (p.Ser1737=)
c.4185C>A (p.Ser1395=)
c.3766C>A
c.3327C>A (p.Ser1109=)
c.*1144C>A (n.*1144C>A)
c.4480C>A
c.4056C>A (p.Ser1352=)
c.5253C>A (p.Ser1751=)
c.5250C>A (p.Ser1750=)
c.5205C>A (p.Ser1735=)
c.4329C>A (p.Ser1443=)
c.4098C>A (p.Ser1366=)
10g.94298422C>GCA470986425PLCE1c.4287C>G (p.Ser1429=)
c.*1754C>G (n.*1754C>G)
n.1946C>G
n.630C>G
c.*495C>G (n.*495C>G)
c.4239C>G (p.Ser1413=)
n.9419C>G
n.2884C>G
c.5079C>G (p.Ser1693=)
c.5163C>G (p.Ser1721=)
c.5211C>G (p.Ser1737=)
c.4185C>G (p.Ser1395=)
c.3766C>G
c.3327C>G (p.Ser1109=)
c.*1144C>G (n.*1144C>G)
c.4480C>G
c.4056C>G (p.Ser1352=)
c.5253C>G (p.Ser1751=)
c.5250C>G (p.Ser1750=)
c.5205C>G (p.Ser1735=)
c.4329C>G (p.Ser1443=)
c.4098C>G (p.Ser1366=)
gnomAD v4
10g.94298422C>TCA470986427PLCE1c.4287C>T (p.Ser1429=)
c.*1754C>T (n.*1754C>T)
n.1946C>T
n.630C>T
c.*495C>T (n.*495C>T)
c.4239C>T (p.Ser1413=)
n.9419C>T
n.2884C>T
c.5079C>T (p.Ser1693=)
c.5163C>T (p.Ser1721=)
c.5211C>T (p.Ser1737=)
c.4185C>T (p.Ser1395=)
c.3766C>T
c.3327C>T (p.Ser1109=)
c.*1144C>T (n.*1144C>T)
c.4480C>T
c.4056C>T (p.Ser1352=)
c.5253C>T (p.Ser1751=)
c.5250C>T (p.Ser1750=)
c.5205C>T (p.Ser1735=)
c.4329C>T (p.Ser1443=)
c.4098C>T (p.Ser1366=)
10g.94298423C>ACA377641743PLCE1c.4288C>A (p.Pro1430Thr)
c.*1755C>A (n.*1755C>A)
n.1947C>A
n.631C>A
c.*496C>A (n.*496C>A)
c.4240C>A (p.Pro1414Thr)
n.9420C>A
n.2885C>A
c.5080C>A (p.Pro1694Thr)
c.5164C>A (p.Pro1722Thr)
c.5212C>A (p.Pro1738Thr)
c.4186C>A (p.Pro1396Thr)
c.3767C>A
c.3328C>A (p.Pro1110Thr)
c.*1145C>A (n.*1145C>A)
c.4481C>A
c.4057C>A (p.Pro1353Thr)
c.5254C>A (p.Pro1752Thr)
c.5251C>A (p.Pro1751Thr)
c.5206C>A (p.Pro1736Thr)
c.4330C>A (p.Pro1444Thr)
c.4099C>A (p.Pro1367Thr)
10g.94298423C=CA1928998386PLCE1c.4288C= (p.Pro1430=)
c.*1755C= (n.*1755C=)
n.1947C=
n.631C=
c.*496C= (n.*496C=)
c.4240C= (p.Pro1414=)
n.9420C=
n.2885C=
c.5080C= (p.Pro1694=)
c.5164C= (p.Pro1722=)
c.5212C= (p.Pro1738=)
c.4186C= (p.Pro1396=)
c.3767C=
c.3328C= (p.Pro1110=)
c.*1145C= (n.*1145C=)
c.4481C=
c.4057C= (p.Pro1353=)
c.5254C= (p.Pro1752=)
c.5251C= (p.Pro1751=)
c.5206C= (p.Pro1736=)
c.4330C= (p.Pro1444=)
c.4099C= (p.Pro1367=)
10g.94298423C>GCA211599594PLCE1c.4288C>G (p.Pro1430Ala)
c.*1755C>G (n.*1755C>G)
n.1947C>G
n.631C>G
c.*496C>G (n.*496C>G)
c.4240C>G (p.Pro1414Ala)
n.9420C>G
n.2885C>G
c.5080C>G (p.Pro1694Ala)
c.5164C>G (p.Pro1722Ala)
c.5212C>G (p.Pro1738Ala)
c.4186C>G (p.Pro1396Ala)
c.3767C>G
c.3328C>G (p.Pro1110Ala)
c.*1145C>G (n.*1145C>G)
c.4481C>G
c.4057C>G (p.Pro1353Ala)
c.5254C>G (p.Pro1752Ala)
c.5251C>G (p.Pro1751Ala)
c.5206C>G (p.Pro1736Ala)
c.4330C>G (p.Pro1444Ala)
c.4099C>G (p.Pro1367Ala)
dbSNP gnomAD v3 gnomAD v4
10g.94298423C>TCA377641744PLCE1c.4288C>T (p.Pro1430Ser)
c.*1755C>T (n.*1755C>T)
n.1947C>T
n.631C>T
c.*496C>T (n.*496C>T)
c.4240C>T (p.Pro1414Ser)
n.9420C>T
n.2885C>T
c.5080C>T (p.Pro1694Ser)
c.5164C>T (p.Pro1722Ser)
c.5212C>T (p.Pro1738Ser)
c.4186C>T (p.Pro1396Ser)
c.3767C>T
c.3328C>T (p.Pro1110Ser)
c.*1145C>T (n.*1145C>T)
c.4481C>T
c.4057C>T (p.Pro1353Ser)
c.5254C>T (p.Pro1752Ser)
c.5251C>T (p.Pro1751Ser)
c.5206C>T (p.Pro1736Ser)
c.4330C>T (p.Pro1444Ser)
c.4099C>T (p.Pro1367Ser)
gnomAD v4 COSMIC COSMIC COSMIC
10g.94298424C>ACA377641745PLCE1c.4289C>A (p.Pro1430His)
c.*1756C>A (n.*1756C>A)
n.1948C>A
n.632C>A
c.*497C>A (n.*497C>A)
c.4241C>A (p.Pro1414His)
n.9421C>A
n.2886C>A
c.5081C>A (p.Pro1694His)
c.5165C>A (p.Pro1722His)
c.5213C>A (p.Pro1738His)
c.4187C>A (p.Pro1396His)
c.3768C>A
c.3329C>A (p.Pro1110His)
c.*1146C>A (n.*1146C>A)
c.4482C>A
c.4058C>A (p.Pro1353His)
c.5255C>A (p.Pro1752His)
c.5252C>A (p.Pro1751His)
c.5207C>A (p.Pro1736His)
c.4331C>A (p.Pro1444His)
c.4100C>A (p.Pro1367His)
10g.94298424C=CA1928998387PLCE1c.4289C= (p.Pro1430=)
c.*1756C= (n.*1756C=)
n.1948C=
n.632C=
c.*497C= (n.*497C=)
c.4241C= (p.Pro1414=)
n.9421C=
n.2886C=
c.5081C= (p.Pro1694=)
c.5165C= (p.Pro1722=)
c.5213C= (p.Pro1738=)
c.4187C= (p.Pro1396=)
c.3768C=
c.3329C= (p.Pro1110=)
c.*1146C= (n.*1146C=)
c.4482C=
c.4058C= (p.Pro1353=)
c.5255C= (p.Pro1752=)
c.5252C= (p.Pro1751=)
c.5207C= (p.Pro1736=)
c.4331C= (p.Pro1444=)
c.4100C= (p.Pro1367=)
10g.94298424C>GCA5613321PLCE1c.4289C>G (p.Pro1430Arg)
c.*1756C>G (n.*1756C>G)
n.1948C>G
n.632C>G
c.*497C>G (n.*497C>G)
c.4241C>G (p.Pro1414Arg)
n.9421C>G
n.2886C>G
c.5081C>G (p.Pro1694Arg)
c.5165C>G (p.Pro1722Arg)
c.5213C>G (p.Pro1738Arg)
c.4187C>G (p.Pro1396Arg)
c.3768C>G
c.3329C>G (p.Pro1110Arg)
c.*1146C>G (n.*1146C>G)
c.4482C>G
c.4058C>G (p.Pro1353Arg)
c.5255C>G (p.Pro1752Arg)
c.5252C>G (p.Pro1751Arg)
c.5207C>G (p.Pro1736Arg)
c.4331C>G (p.Pro1444Arg)
c.4100C>G (p.Pro1367Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298424C>TCA377641746PLCE1c.4289C>T (p.Pro1430Leu)
c.*1756C>T (n.*1756C>T)
n.1948C>T
n.632C>T
c.*497C>T (n.*497C>T)
c.4241C>T (p.Pro1414Leu)
n.9421C>T
n.2886C>T
c.5081C>T (p.Pro1694Leu)
c.5165C>T (p.Pro1722Leu)
c.5213C>T (p.Pro1738Leu)
c.4187C>T (p.Pro1396Leu)
c.3768C>T
c.3329C>T (p.Pro1110Leu)
c.*1146C>T (n.*1146C>T)
c.4482C>T
c.4058C>T (p.Pro1353Leu)
c.5255C>T (p.Pro1752Leu)
c.5252C>T (p.Pro1751Leu)
c.5207C>T (p.Pro1736Leu)
c.4331C>T (p.Pro1444Leu)
c.4100C>T (p.Pro1367Leu)
10g.94298425T>ACA470986428PLCE1c.4290T>A (p.Pro1430=)
c.*1757T>A (n.*1757T>A)
n.1949T>A
n.633T>A
c.*498T>A (n.*498T>A)
c.4242T>A (p.Pro1414=)
n.9422T>A
n.2887T>A
c.5082T>A (p.Pro1694=)
c.5166T>A (p.Pro1722=)
c.5214T>A (p.Pro1738=)
c.4188T>A (p.Pro1396=)
c.3769T>A
c.3330T>A (p.Pro1110=)
c.*1147T>A (n.*1147T>A)
c.4483T>A
c.4059T>A (p.Pro1353=)
c.5256T>A (p.Pro1752=)
c.5253T>A (p.Pro1751=)
c.5208T>A (p.Pro1736=)
c.4332T>A (p.Pro1444=)
c.4101T>A (p.Pro1367=)
10g.94298425T>CCA470986429PLCE1c.4290T>C (p.Pro1430=)
c.*1757T>C (n.*1757T>C)
n.1949T>C
n.633T>C
c.*498T>C (n.*498T>C)
c.4242T>C (p.Pro1414=)
n.9422T>C
n.2887T>C
c.5082T>C (p.Pro1694=)
c.5166T>C (p.Pro1722=)
c.5214T>C (p.Pro1738=)
c.4188T>C (p.Pro1396=)
c.3769T>C
c.3330T>C (p.Pro1110=)
c.*1147T>C (n.*1147T>C)
c.4483T>C
c.4059T>C (p.Pro1353=)
c.5256T>C (p.Pro1752=)
c.5253T>C (p.Pro1751=)
c.5208T>C (p.Pro1736=)
c.4332T>C (p.Pro1444=)
c.4101T>C (p.Pro1367=)
dbSNP gnomAD v2 gnomAD v4
10g.94298425T>GCA470986430PLCE1c.4290T>G (p.Pro1430=)
c.*1757T>G (n.*1757T>G)
n.1949T>G
n.633T>G
c.*498T>G (n.*498T>G)
c.4242T>G (p.Pro1414=)
n.9422T>G
n.2887T>G
c.5082T>G (p.Pro1694=)
c.5166T>G (p.Pro1722=)
c.5214T>G (p.Pro1738=)
c.4188T>G (p.Pro1396=)
c.3769T>G
c.3330T>G (p.Pro1110=)
c.*1147T>G (n.*1147T>G)
c.4483T>G
c.4059T>G (p.Pro1353=)
c.5256T>G (p.Pro1752=)
c.5253T>G (p.Pro1751=)
c.5208T>G (p.Pro1736=)
c.4332T>G (p.Pro1444=)
c.4101T>G (p.Pro1367=)
COSMIC COSMIC COSMIC
10g.94298425T=CA1928998388PLCE1c.4290T= (p.Pro1430=)
c.*1757T= (n.*1757T=)
n.1949T=
n.633T=
c.*498T= (n.*498T=)
c.4242T= (p.Pro1414=)
n.9422T=
n.2887T=
c.5082T= (p.Pro1694=)
c.5166T= (p.Pro1722=)
c.5214T= (p.Pro1738=)
c.4188T= (p.Pro1396=)
c.3769T=
c.3330T= (p.Pro1110=)
c.*1147T= (n.*1147T=)
c.4483T=
c.4059T= (p.Pro1353=)
c.5256T= (p.Pro1752=)
c.5253T= (p.Pro1751=)
c.5208T= (p.Pro1736=)
c.4332T= (p.Pro1444=)
c.4101T= (p.Pro1367=)
10g.94298426C>ACA377641747PLCE1c.4291C>A (p.Leu1431Ile)
c.*1758C>A (n.*1758C>A)
n.1950C>A
n.634C>A
c.*499C>A (n.*499C>A)
c.4243C>A (p.Leu1415Ile)
n.9423C>A
n.2888C>A
c.5083C>A (p.Leu1695Ile)
c.5167C>A (p.Leu1723Ile)
c.5215C>A (p.Leu1739Ile)
c.4189C>A (p.Leu1397Ile)
c.3770C>A
c.3331C>A (p.Leu1111Ile)
c.*1148C>A (n.*1148C>A)
c.4484C>A
c.4060C>A (p.Leu1354Ile)
c.5257C>A (p.Leu1753Ile)
c.5254C>A (p.Leu1752Ile)
c.5209C>A (p.Leu1737Ile)
c.4333C>A (p.Leu1445Ile)
c.4102C>A (p.Leu1368Ile)
10g.94298426C=CA1928998389PLCE1c.4291C= (p.Leu1431=)
c.*1758C= (n.*1758C=)
n.1950C=
n.634C=
c.*499C= (n.*499C=)
c.4243C= (p.Leu1415=)
n.9423C=
n.2888C=
c.5083C= (p.Leu1695=)
c.5167C= (p.Leu1723=)
c.5215C= (p.Leu1739=)
c.4189C= (p.Leu1397=)
c.3770C=
c.3331C= (p.Leu1111=)
c.*1148C= (n.*1148C=)
c.4484C=
c.4060C= (p.Leu1354=)
c.5257C= (p.Leu1753=)
c.5254C= (p.Leu1752=)
c.5209C= (p.Leu1737=)
c.4333C= (p.Leu1445=)
c.4102C= (p.Leu1368=)
10g.94298426C>GCA377641748PLCE1c.4291C>G (p.Leu1431Val)
c.*1758C>G (n.*1758C>G)
n.1950C>G
n.634C>G
c.*499C>G (n.*499C>G)
c.4243C>G (p.Leu1415Val)
n.9423C>G
n.2888C>G
c.5083C>G (p.Leu1695Val)
c.5167C>G (p.Leu1723Val)
c.5215C>G (p.Leu1739Val)
c.4189C>G (p.Leu1397Val)
c.3770C>G
c.3331C>G (p.Leu1111Val)
c.*1148C>G (n.*1148C>G)
c.4484C>G
c.4060C>G (p.Leu1354Val)
c.5257C>G (p.Leu1753Val)
c.5254C>G (p.Leu1752Val)
c.5209C>G (p.Leu1737Val)
c.4333C>G (p.Leu1445Val)
c.4102C>G (p.Leu1368Val)
10g.94298426C>TCA377641749PLCE1c.4291C>T (p.Leu1431Phe)
c.*1758C>T (n.*1758C>T)
n.1950C>T
n.634C>T
c.*499C>T (n.*499C>T)
c.4243C>T (p.Leu1415Phe)
n.9423C>T
n.2888C>T
c.5083C>T (p.Leu1695Phe)
c.5167C>T (p.Leu1723Phe)
c.5215C>T (p.Leu1739Phe)
c.4189C>T (p.Leu1397Phe)
c.3770C>T
c.3331C>T (p.Leu1111Phe)
c.*1148C>T (n.*1148C>T)
c.4484C>T
c.4060C>T (p.Leu1354Phe)
c.5257C>T (p.Leu1753Phe)
c.5254C>T (p.Leu1752Phe)
c.5209C>T (p.Leu1737Phe)
c.4333C>T (p.Leu1445Phe)
c.4102C>T (p.Leu1368Phe)
dbSNP gnomAD v2 gnomAD v4
10g.94298427T>ACA377641752PLCE1c.4292T>A (p.Leu1431His)
c.*1759T>A (n.*1759T>A)
n.1951T>A
n.635T>A
c.*500T>A (n.*500T>A)
c.4244T>A (p.Leu1415His)
n.9424T>A
n.2889T>A
c.5084T>A (p.Leu1695His)
c.5168T>A (p.Leu1723His)
c.5216T>A (p.Leu1739His)
c.4190T>A (p.Leu1397His)
c.3771T>A
c.3332T>A (p.Leu1111His)
c.*1149T>A (n.*1149T>A)
c.4485T>A
c.4061T>A (p.Leu1354His)
c.5258T>A (p.Leu1753His)
c.5255T>A (p.Leu1752His)
c.5210T>A (p.Leu1737His)
c.4334T>A (p.Leu1445His)
c.4103T>A (p.Leu1368His)
10g.94298427T>CCA377641750PLCE1c.4292T>C (p.Leu1431Pro)
c.*1759T>C (n.*1759T>C)
n.1951T>C
n.635T>C
c.*500T>C (n.*500T>C)
c.4244T>C (p.Leu1415Pro)
n.9424T>C
n.2889T>C
c.5084T>C (p.Leu1695Pro)
c.5168T>C (p.Leu1723Pro)
c.5216T>C (p.Leu1739Pro)
c.4190T>C (p.Leu1397Pro)
c.3771T>C
c.3332T>C (p.Leu1111Pro)
c.*1149T>C (n.*1149T>C)
c.4485T>C
c.4061T>C (p.Leu1354Pro)
c.5258T>C (p.Leu1753Pro)
c.5255T>C (p.Leu1752Pro)
c.5210T>C (p.Leu1737Pro)
c.4334T>C (p.Leu1445Pro)
c.4103T>C (p.Leu1368Pro)
10g.94298427T>GCA377641751PLCE1c.4292T>G (p.Leu1431Arg)
c.*1759T>G (n.*1759T>G)
n.1951T>G
n.635T>G
c.*500T>G (n.*500T>G)
c.4244T>G (p.Leu1415Arg)
n.9424T>G
n.2889T>G
c.5084T>G (p.Leu1695Arg)
c.5168T>G (p.Leu1723Arg)
c.5216T>G (p.Leu1739Arg)
c.4190T>G (p.Leu1397Arg)
c.3771T>G
c.3332T>G (p.Leu1111Arg)
c.*1149T>G (n.*1149T>G)
c.4485T>G
c.4061T>G (p.Leu1354Arg)
c.5258T>G (p.Leu1753Arg)
c.5255T>G (p.Leu1752Arg)
c.5210T>G (p.Leu1737Arg)
c.4334T>G (p.Leu1445Arg)
c.4103T>G (p.Leu1368Arg)
10g.94298428C>ACA470986434PLCE1c.4293C>A (p.Leu1431=)
c.*1760C>A (n.*1760C>A)
n.1952C>A
n.636C>A
c.*501C>A (n.*501C>A)
c.4245C>A (p.Leu1415=)
n.9425C>A
n.2890C>A
c.5085C>A (p.Leu1695=)
c.5169C>A (p.Leu1723=)
c.5217C>A (p.Leu1739=)
c.4191C>A (p.Leu1397=)
c.3772C>A
c.3333C>A (p.Leu1111=)
c.*1150C>A (n.*1150C>A)
c.4486C>A
c.4062C>A (p.Leu1354=)
c.5259C>A (p.Leu1753=)
c.5256C>A (p.Leu1752=)
c.5211C>A (p.Leu1737=)
c.4335C>A (p.Leu1445=)
c.4104C>A (p.Leu1368=)
10g.94298428C>GCA470986435PLCE1c.4293C>G (p.Leu1431=)
c.*1760C>G (n.*1760C>G)
n.1952C>G
n.636C>G
c.*501C>G (n.*501C>G)
c.4245C>G (p.Leu1415=)
n.9425C>G
n.2890C>G
c.5085C>G (p.Leu1695=)
c.5169C>G (p.Leu1723=)
c.5217C>G (p.Leu1739=)
c.4191C>G (p.Leu1397=)
c.3772C>G
c.3333C>G (p.Leu1111=)
c.*1150C>G (n.*1150C>G)
c.4486C>G
c.4062C>G (p.Leu1354=)
c.5259C>G (p.Leu1753=)
c.5256C>G (p.Leu1752=)
c.5211C>G (p.Leu1737=)
c.4335C>G (p.Leu1445=)
c.4104C>G (p.Leu1368=)
10g.94298428C>TCA470986436PLCE1c.4293C>T (p.Leu1431=)
c.*1760C>T (n.*1760C>T)
n.1952C>T
n.636C>T
c.*501C>T (n.*501C>T)
c.4245C>T (p.Leu1415=)
n.9425C>T
n.2890C>T
c.5085C>T (p.Leu1695=)
c.5169C>T (p.Leu1723=)
c.5217C>T (p.Leu1739=)
c.4191C>T (p.Leu1397=)
c.3772C>T
c.3333C>T (p.Leu1111=)
c.*1150C>T (n.*1150C>T)
c.4486C>T
c.4062C>T (p.Leu1354=)
c.5259C>T (p.Leu1753=)
c.5256C>T (p.Leu1752=)
c.5211C>T (p.Leu1737=)
c.4335C>T (p.Leu1445=)
c.4104C>T (p.Leu1368=)
10g.94298429A>CCA377641753PLCE1c.4294A>C (p.Asn1432His)
c.*1761A>C (n.*1761A>C)
n.1953A>C
n.637A>C
c.*502A>C (n.*502A>C)
c.4246A>C (p.Asn1416His)
n.9426A>C
n.2891A>C
c.5086A>C (p.Asn1696His)
c.5170A>C (p.Asn1724His)
c.5218A>C (p.Asn1740His)
c.4192A>C (p.Asn1398His)
c.3773A>C
c.3334A>C (p.Asn1112His)
c.*1151A>C (n.*1151A>C)
c.4487A>C
c.4063A>C (p.Asn1355His)
c.5260A>C (p.Asn1754His)
c.5257A>C (p.Asn1753His)
c.5212A>C (p.Asn1738His)
c.4336A>C (p.Asn1446His)
c.4105A>C (p.Asn1369His)
10g.94298429A>GCA377641754PLCE1c.4294A>G (p.Asn1432Asp)
c.*1761A>G (n.*1761A>G)
n.1953A>G
n.637A>G
c.*502A>G (n.*502A>G)
c.4246A>G (p.Asn1416Asp)
n.9426A>G
n.2891A>G
c.5086A>G (p.Asn1696Asp)
c.5170A>G (p.Asn1724Asp)
c.5218A>G (p.Asn1740Asp)
c.4192A>G (p.Asn1398Asp)
c.3773A>G
c.3334A>G (p.Asn1112Asp)
c.*1151A>G (n.*1151A>G)
c.4487A>G
c.4063A>G (p.Asn1355Asp)
c.5260A>G (p.Asn1754Asp)
c.5257A>G (p.Asn1753Asp)
c.5212A>G (p.Asn1738Asp)
c.4336A>G (p.Asn1446Asp)
c.4105A>G (p.Asn1369Asp)
10g.94298429A>TCA377641755PLCE1c.4294A>T (p.Asn1432Tyr)
c.*1761A>T (n.*1761A>T)
n.1953A>T
n.637A>T
c.*502A>T (n.*502A>T)
c.4246A>T (p.Asn1416Tyr)
n.9426A>T
n.2891A>T
c.5086A>T (p.Asn1696Tyr)
c.5170A>T (p.Asn1724Tyr)
c.5218A>T (p.Asn1740Tyr)
c.4192A>T (p.Asn1398Tyr)
c.3773A>T
c.3334A>T (p.Asn1112Tyr)
c.*1151A>T (n.*1151A>T)
c.4487A>T
c.4063A>T (p.Asn1355Tyr)
c.5260A>T (p.Asn1754Tyr)
c.5257A>T (p.Asn1753Tyr)
c.5212A>T (p.Asn1738Tyr)
c.4336A>T (p.Asn1446Tyr)
c.4105A>T (p.Asn1369Tyr)
10g.94298430A>CCA377641756PLCE1c.4295A>C (p.Asn1432Thr)
c.*1762A>C (n.*1762A>C)
n.1954A>C
n.638A>C
c.*503A>C (n.*503A>C)
c.4247A>C (p.Asn1416Thr)
n.9427A>C
n.2892A>C
c.5087A>C (p.Asn1696Thr)
c.5171A>C (p.Asn1724Thr)
c.5219A>C (p.Asn1740Thr)
c.4193A>C (p.Asn1398Thr)
c.3774A>C
c.3335A>C (p.Asn1112Thr)
c.*1152A>C (n.*1152A>C)
c.4488A>C
c.4064A>C (p.Asn1355Thr)
c.5261A>C (p.Asn1754Thr)
c.5258A>C (p.Asn1753Thr)
c.5213A>C (p.Asn1738Thr)
c.4337A>C (p.Asn1446Thr)
c.4106A>C (p.Asn1369Thr)
10g.94298430A>GCA377641757PLCE1c.4295A>G (p.Asn1432Ser)
c.*1762A>G (n.*1762A>G)
n.1954A>G
n.638A>G
c.*503A>G (n.*503A>G)
c.4247A>G (p.Asn1416Ser)
n.9427A>G
n.2892A>G
c.5087A>G (p.Asn1696Ser)
c.5171A>G (p.Asn1724Ser)
c.5219A>G (p.Asn1740Ser)
c.4193A>G (p.Asn1398Ser)
c.3774A>G
c.3335A>G (p.Asn1112Ser)
c.*1152A>G (n.*1152A>G)
c.4488A>G
c.4064A>G (p.Asn1355Ser)
c.5261A>G (p.Asn1754Ser)
c.5258A>G (p.Asn1753Ser)
c.5213A>G (p.Asn1738Ser)
c.4337A>G (p.Asn1446Ser)
c.4106A>G (p.Asn1369Ser)
10g.94298430A>TCA377641758PLCE1c.4295A>T (p.Asn1432Ile)
c.*1762A>T (n.*1762A>T)
n.1954A>T
n.638A>T
c.*503A>T (n.*503A>T)
c.4247A>T (p.Asn1416Ile)
n.9427A>T
n.2892A>T
c.5087A>T (p.Asn1696Ile)
c.5171A>T (p.Asn1724Ile)
c.5219A>T (p.Asn1740Ile)
c.4193A>T (p.Asn1398Ile)
c.3774A>T
c.3335A>T (p.Asn1112Ile)
c.*1152A>T (n.*1152A>T)
c.4488A>T
c.4064A>T (p.Asn1355Ile)
c.5261A>T (p.Asn1754Ile)
c.5258A>T (p.Asn1753Ile)
c.5213A>T (p.Asn1738Ile)
c.4337A>T (p.Asn1446Ile)
c.4106A>T (p.Asn1369Ile)
10g.94298431C>ACA377641759PLCE1c.4296C>A (p.Asn1432Lys)
c.*1763C>A (n.*1763C>A)
n.1955C>A
n.639C>A
c.*504C>A (n.*504C>A)
c.4248C>A (p.Asn1416Lys)
n.9428C>A
n.2893C>A
c.5088C>A (p.Asn1696Lys)
c.5172C>A (p.Asn1724Lys)
c.5220C>A (p.Asn1740Lys)
c.4194C>A (p.Asn1398Lys)
c.3775C>A
c.3336C>A (p.Asn1112Lys)
c.*1153C>A (n.*1153C>A)
c.4489C>A
c.4065C>A (p.Asn1355Lys)
c.5262C>A (p.Asn1754Lys)
c.5259C>A (p.Asn1753Lys)
c.5214C>A (p.Asn1738Lys)
c.4338C>A (p.Asn1446Lys)
c.4107C>A (p.Asn1369Lys)
10g.94298431C>GCA377641760PLCE1c.4296C>G (p.Asn1432Lys)
c.*1763C>G (n.*1763C>G)
n.1955C>G
n.639C>G
c.*504C>G (n.*504C>G)
c.4248C>G (p.Asn1416Lys)
n.9428C>G
n.2893C>G
c.5088C>G (p.Asn1696Lys)
c.5172C>G (p.Asn1724Lys)
c.5220C>G (p.Asn1740Lys)
c.4194C>G (p.Asn1398Lys)
c.3775C>G
c.3336C>G (p.Asn1112Lys)
c.*1153C>G (n.*1153C>G)
c.4489C>G
c.4065C>G (p.Asn1355Lys)
c.5262C>G (p.Asn1754Lys)
c.5259C>G (p.Asn1753Lys)
c.5214C>G (p.Asn1738Lys)
c.4338C>G (p.Asn1446Lys)
c.4107C>G (p.Asn1369Lys)
10g.94298431C>TCA470986437PLCE1c.4296C>T (p.Asn1432=)
c.*1763C>T (n.*1763C>T)
n.1955C>T
n.639C>T
c.*504C>T (n.*504C>T)
c.4248C>T (p.Asn1416=)
n.9428C>T
n.2893C>T
c.5088C>T (p.Asn1696=)
c.5172C>T (p.Asn1724=)
c.5220C>T (p.Asn1740=)
c.4194C>T (p.Asn1398=)
c.3775C>T
c.3336C>T (p.Asn1112=)
c.*1153C>T (n.*1153C>T)
c.4489C>T
c.4065C>T (p.Asn1355=)
c.5262C>T (p.Asn1754=)
c.5259C>T (p.Asn1753=)
c.5214C>T (p.Asn1738=)
c.4338C>T (p.Asn1446=)
c.4107C>T (p.Asn1369=)
10g.94298432C>ACA377641761PLCE1c.4297C>A (p.Pro1433Thr)
c.*1764C>A (n.*1764C>A)
n.1956C>A
n.640C>A
c.*505C>A (n.*505C>A)
c.4249C>A (p.Pro1417Thr)
n.9429C>A
n.2894C>A
c.5089C>A (p.Pro1697Thr)
c.5173C>A (p.Pro1725Thr)
c.5221C>A (p.Pro1741Thr)
c.4195C>A (p.Pro1399Thr)
c.3776C>A
c.3337C>A (p.Pro1113Thr)
c.*1154C>A (n.*1154C>A)
c.4490C>A
c.4066C>A (p.Pro1356Thr)
c.5263C>A (p.Pro1755Thr)
c.5260C>A (p.Pro1754Thr)
c.5215C>A (p.Pro1739Thr)
c.4339C>A (p.Pro1447Thr)
c.4108C>A (p.Pro1370Thr)
10g.94298432C>GCA377641762PLCE1c.4297C>G (p.Pro1433Ala)
c.*1764C>G (n.*1764C>G)
n.1956C>G
n.640C>G
c.*505C>G (n.*505C>G)
c.4249C>G (p.Pro1417Ala)
n.9429C>G
n.2894C>G
c.5089C>G (p.Pro1697Ala)
c.5173C>G (p.Pro1725Ala)
c.5221C>G (p.Pro1741Ala)
c.4195C>G (p.Pro1399Ala)
c.3776C>G
c.3337C>G (p.Pro1113Ala)
c.*1154C>G (n.*1154C>G)
c.4490C>G
c.4066C>G (p.Pro1356Ala)
c.5263C>G (p.Pro1755Ala)
c.5260C>G (p.Pro1754Ala)
c.5215C>G (p.Pro1739Ala)
c.4339C>G (p.Pro1447Ala)
c.4108C>G (p.Pro1370Ala)
10g.94298432C>TCA377641763PLCE1c.4297C>T (p.Pro1433Ser)
c.*1764C>T (n.*1764C>T)
n.1956C>T
n.640C>T
c.*505C>T (n.*505C>T)
c.4249C>T (p.Pro1417Ser)
n.9429C>T
n.2894C>T
c.5089C>T (p.Pro1697Ser)
c.5173C>T (p.Pro1725Ser)
c.5221C>T (p.Pro1741Ser)
c.4195C>T (p.Pro1399Ser)
c.3776C>T
c.3337C>T (p.Pro1113Ser)
c.*1154C>T (n.*1154C>T)
c.4490C>T
c.4066C>T (p.Pro1356Ser)
c.5263C>T (p.Pro1755Ser)
c.5260C>T (p.Pro1754Ser)
c.5215C>T (p.Pro1739Ser)
c.4339C>T (p.Pro1447Ser)
c.4108C>T (p.Pro1370Ser)
10g.94298433C>ACA377641765PLCE1c.4298C>A (p.Pro1433Gln)
c.*1765C>A (n.*1765C>A)
n.1957C>A
n.641C>A
c.*506C>A (n.*506C>A)
c.4250C>A (p.Pro1417Gln)
n.9430C>A
n.2895C>A
c.5090C>A (p.Pro1697Gln)
c.5174C>A (p.Pro1725Gln)
c.5222C>A (p.Pro1741Gln)
c.4196C>A (p.Pro1399Gln)
c.3777C>A
c.3338C>A (p.Pro1113Gln)
c.*1155C>A (n.*1155C>A)
c.4491C>A
c.4067C>A (p.Pro1356Gln)
c.5264C>A (p.Pro1755Gln)
c.5261C>A (p.Pro1754Gln)
c.5216C>A (p.Pro1739Gln)
c.4340C>A (p.Pro1447Gln)
c.4109C>A (p.Pro1370Gln)
gnomAD v4
10g.94298433C>GCA377641766PLCE1c.4298C>G (p.Pro1433Arg)
c.*1765C>G (n.*1765C>G)
n.1957C>G
n.641C>G
c.*506C>G (n.*506C>G)
c.4250C>G (p.Pro1417Arg)
n.9430C>G
n.2895C>G
c.5090C>G (p.Pro1697Arg)
c.5174C>G (p.Pro1725Arg)
c.5222C>G (p.Pro1741Arg)
c.4196C>G (p.Pro1399Arg)
c.3777C>G
c.3338C>G (p.Pro1113Arg)
c.*1155C>G (n.*1155C>G)
c.4491C>G
c.4067C>G (p.Pro1356Arg)
c.5264C>G (p.Pro1755Arg)
c.5261C>G (p.Pro1754Arg)
c.5216C>G (p.Pro1739Arg)
c.4340C>G (p.Pro1447Arg)
c.4109C>G (p.Pro1370Arg)
10g.94298433C>TCA377641764PLCE1c.4298C>T (p.Pro1433Leu)
c.*1765C>T (n.*1765C>T)
n.1957C>T
n.641C>T
c.*506C>T (n.*506C>T)
c.4250C>T (p.Pro1417Leu)
n.9430C>T
n.2895C>T
c.5090C>T (p.Pro1697Leu)
c.5174C>T (p.Pro1725Leu)
c.5222C>T (p.Pro1741Leu)
c.4196C>T (p.Pro1399Leu)
c.3777C>T
c.3338C>T (p.Pro1113Leu)
c.*1155C>T (n.*1155C>T)
c.4491C>T
c.4067C>T (p.Pro1356Leu)
c.5264C>T (p.Pro1755Leu)
c.5261C>T (p.Pro1754Leu)
c.5216C>T (p.Pro1739Leu)
c.4340C>T (p.Pro1447Leu)
c.4109C>T (p.Pro1370Leu)
10g.94298434A>CCA470986439PLCE1c.4299A>C (p.Pro1433=)
c.*1766A>C (n.*1766A>C)
n.1958A>C
n.642A>C
c.*507A>C (n.*507A>C)
c.4251A>C (p.Pro1417=)
n.9431A>C
n.2896A>C
c.5091A>C (p.Pro1697=)
c.5175A>C (p.Pro1725=)
c.5223A>C (p.Pro1741=)
c.4197A>C (p.Pro1399=)
c.3778A>C
c.3339A>C (p.Pro1113=)
c.*1156A>C (n.*1156A>C)
c.4492A>C
c.4068A>C (p.Pro1356=)
c.5265A>C (p.Pro1755=)
c.5262A>C (p.Pro1754=)
c.5217A>C (p.Pro1739=)
c.4341A>C (p.Pro1447=)
c.4110A>C (p.Pro1370=)
10g.94298434A>GCA470986440PLCE1c.4299A>G (p.Pro1433=)
c.*1766A>G (n.*1766A>G)
n.1958A>G
n.642A>G
c.*507A>G (n.*507A>G)
c.4251A>G (p.Pro1417=)
n.9431A>G
n.2896A>G
c.5091A>G (p.Pro1697=)
c.5175A>G (p.Pro1725=)
c.5223A>G (p.Pro1741=)
c.4197A>G (p.Pro1399=)
c.3778A>G
c.3339A>G (p.Pro1113=)
c.*1156A>G (n.*1156A>G)
c.4492A>G
c.4068A>G (p.Pro1356=)
c.5265A>G (p.Pro1755=)
c.5262A>G (p.Pro1754=)
c.5217A>G (p.Pro1739=)
c.4341A>G (p.Pro1447=)
c.4110A>G (p.Pro1370=)
10g.94298434A>TCA470986441PLCE1c.4299A>T (p.Pro1433=)
c.*1766A>T (n.*1766A>T)
n.1958A>T
n.642A>T
c.*507A>T (n.*507A>T)
c.4251A>T (p.Pro1417=)
n.9431A>T
n.2896A>T
c.5091A>T (p.Pro1697=)
c.5175A>T (p.Pro1725=)
c.5223A>T (p.Pro1741=)
c.4197A>T (p.Pro1399=)
c.3778A>T
c.3339A>T (p.Pro1113=)
c.*1156A>T (n.*1156A>T)
c.4492A>T
c.4068A>T (p.Pro1356=)
c.5265A>T (p.Pro1755=)
c.5262A>T (p.Pro1754=)
c.5217A>T (p.Pro1739=)
c.4341A>T (p.Pro1447=)
c.4110A>T (p.Pro1370=)
10g.94298435A=CA1928998390PLCE1c.4300A= (p.Thr1434=)
c.*1767A= (n.*1767A=)
n.1959A=
n.643A=
c.*508A= (n.*508A=)
c.4252A= (p.Thr1418=)
n.9432A=
n.2897A=
c.5092A= (p.Thr1698=)
c.5176A= (p.Thr1726=)
c.5224A= (p.Thr1742=)
c.4198A= (p.Thr1400=)
c.3779A=
c.3340A= (p.Thr1114=)
c.*1157A= (n.*1157A=)
c.4493A=
c.4069A= (p.Thr1357=)
c.5266A= (p.Thr1756=)
c.5263A= (p.Thr1755=)
c.5218A= (p.Thr1740=)
c.4342A= (p.Thr1448=)
c.4111A= (p.Thr1371=)
10g.94298435A>CCA377641768PLCE1c.4300A>C (p.Thr1434Pro)
c.*1767A>C (n.*1767A>C)
n.1959A>C
n.643A>C
c.*508A>C (n.*508A>C)
c.4252A>C (p.Thr1418Pro)
n.9432A>C
n.2897A>C
c.5092A>C (p.Thr1698Pro)
c.5176A>C (p.Thr1726Pro)
c.5224A>C (p.Thr1742Pro)
c.4198A>C (p.Thr1400Pro)
c.3779A>C
c.3340A>C (p.Thr1114Pro)
c.*1157A>C (n.*1157A>C)
c.4493A>C
c.4069A>C (p.Thr1357Pro)
c.5266A>C (p.Thr1756Pro)
c.5263A>C (p.Thr1755Pro)
c.5218A>C (p.Thr1740Pro)
c.4342A>C (p.Thr1448Pro)
c.4111A>C (p.Thr1371Pro)
10g.94298435A>GCA211599611PLCE1c.4300A>G (p.Thr1434Ala)
c.*1767A>G (n.*1767A>G)
n.1959A>G
n.643A>G
c.*508A>G (n.*508A>G)
c.4252A>G (p.Thr1418Ala)
n.9432A>G
n.2897A>G
c.5092A>G (p.Thr1698Ala)
c.5176A>G (p.Thr1726Ala)
c.5224A>G (p.Thr1742Ala)
c.4198A>G (p.Thr1400Ala)
c.3779A>G
c.3340A>G (p.Thr1114Ala)
c.*1157A>G (n.*1157A>G)
c.4493A>G
c.4069A>G (p.Thr1357Ala)
c.5266A>G (p.Thr1756Ala)
c.5263A>G (p.Thr1755Ala)
c.5218A>G (p.Thr1740Ala)
c.4342A>G (p.Thr1448Ala)
c.4111A>G (p.Thr1371Ala)
dbSNP gnomAD v4
10g.94298435A>TCA377641767PLCE1c.4300A>T (p.Thr1434Ser)
c.*1767A>T (n.*1767A>T)
n.1959A>T
n.643A>T
c.*508A>T (n.*508A>T)
c.4252A>T (p.Thr1418Ser)
n.9432A>T
n.2897A>T
c.5092A>T (p.Thr1698Ser)
c.5176A>T (p.Thr1726Ser)
c.5224A>T (p.Thr1742Ser)
c.4198A>T (p.Thr1400Ser)
c.3779A>T
c.3340A>T (p.Thr1114Ser)
c.*1157A>T (n.*1157A>T)
c.4493A>T
c.4069A>T (p.Thr1357Ser)
c.5266A>T (p.Thr1756Ser)
c.5263A>T (p.Thr1755Ser)
c.5218A>T (p.Thr1740Ser)
c.4342A>T (p.Thr1448Ser)
c.4111A>T (p.Thr1371Ser)
10g.94298436C>ACA377641769PLCE1c.4301C>A (p.Thr1434Asn)
c.*1768C>A (n.*1768C>A)
n.1960C>A
n.644C>A
c.*509C>A (n.*509C>A)
c.4253C>A (p.Thr1418Asn)
n.9433C>A
n.2898C>A
c.5093C>A (p.Thr1698Asn)
c.5177C>A (p.Thr1726Asn)
c.5225C>A (p.Thr1742Asn)
c.4199C>A (p.Thr1400Asn)
c.3780C>A
c.3341C>A (p.Thr1114Asn)
c.*1158C>A (n.*1158C>A)
c.4494C>A
c.4070C>A (p.Thr1357Asn)
c.5267C>A (p.Thr1756Asn)
c.5264C>A (p.Thr1755Asn)
c.5219C>A (p.Thr1740Asn)
c.4343C>A (p.Thr1448Asn)
c.4112C>A (p.Thr1371Asn)
gnomAD v4
10g.94298436C=CA1928998391PLCE1c.4301C= (p.Thr1434=)
c.*1768C= (n.*1768C=)
n.1960C=
n.644C=
c.*509C= (n.*509C=)
c.4253C= (p.Thr1418=)
n.9433C=
n.2898C=
c.5093C= (p.Thr1698=)
c.5177C= (p.Thr1726=)
c.5225C= (p.Thr1742=)
c.4199C= (p.Thr1400=)
c.3780C=
c.3341C= (p.Thr1114=)
c.*1158C= (n.*1158C=)
c.4494C=
c.4070C= (p.Thr1357=)
c.5267C= (p.Thr1756=)
c.5264C= (p.Thr1755=)
c.5219C= (p.Thr1740=)
c.4343C= (p.Thr1448=)
c.4112C= (p.Thr1371=)
10g.94298436C>GCA377641770PLCE1c.4301C>G (p.Thr1434Ser)
c.*1768C>G (n.*1768C>G)
n.1960C>G
n.644C>G
c.*509C>G (n.*509C>G)
c.4253C>G (p.Thr1418Ser)
n.9433C>G
n.2898C>G
c.5093C>G (p.Thr1698Ser)
c.5177C>G (p.Thr1726Ser)
c.5225C>G (p.Thr1742Ser)
c.4199C>G (p.Thr1400Ser)
c.3780C>G
c.3341C>G (p.Thr1114Ser)
c.*1158C>G (n.*1158C>G)
c.4494C>G
c.4070C>G (p.Thr1357Ser)
c.5267C>G (p.Thr1756Ser)
c.5264C>G (p.Thr1755Ser)
c.5219C>G (p.Thr1740Ser)
c.4343C>G (p.Thr1448Ser)
c.4112C>G (p.Thr1371Ser)
10g.94298436C>TCA377641771PLCE1c.4301C>T (p.Thr1434Ile)
c.*1768C>T (n.*1768C>T)
n.1960C>T
n.644C>T
c.*509C>T (n.*509C>T)
c.4253C>T (p.Thr1418Ile)
n.9433C>T
n.2898C>T
c.5093C>T (p.Thr1698Ile)
c.5177C>T (p.Thr1726Ile)
c.5225C>T (p.Thr1742Ile)
c.4199C>T (p.Thr1400Ile)
c.3780C>T
c.3341C>T (p.Thr1114Ile)
c.*1158C>T (n.*1158C>T)
c.4494C>T
c.4070C>T (p.Thr1357Ile)
c.5267C>T (p.Thr1756Ile)
c.5264C>T (p.Thr1755Ile)
c.5219C>T (p.Thr1740Ile)
c.4343C>T (p.Thr1448Ile)
c.4112C>T (p.Thr1371Ile)
dbSNP gnomAD v4
10g.94298437C>ACA470986442PLCE1c.4302C>A (p.Thr1434=)
c.*1769C>A (n.*1769C>A)
n.1961C>A
n.645C>A
c.*510C>A (n.*510C>A)
c.4254C>A (p.Thr1418=)
n.9434C>A
n.2899C>A
c.5094C>A (p.Thr1698=)
c.5178C>A (p.Thr1726=)
c.5226C>A (p.Thr1742=)
c.4200C>A (p.Thr1400=)
c.3781C>A
c.3342C>A (p.Thr1114=)
c.*1159C>A (n.*1159C>A)
c.4495C>A
c.4071C>A (p.Thr1357=)
c.5268C>A (p.Thr1756=)
c.5265C>A (p.Thr1755=)
c.5220C>A (p.Thr1740=)
c.4344C>A (p.Thr1448=)
c.4113C>A (p.Thr1371=)
10g.94298437C=CA1928998392PLCE1c.4302C= (p.Thr1434=)
c.*1769C= (n.*1769C=)
n.1961C=
n.645C=
c.*510C= (n.*510C=)
c.4254C= (p.Thr1418=)
n.9434C=
n.2899C=
c.5094C= (p.Thr1698=)
c.5178C= (p.Thr1726=)
c.5226C= (p.Thr1742=)
c.4200C= (p.Thr1400=)
c.3781C=
c.3342C= (p.Thr1114=)
c.*1159C= (n.*1159C=)
c.4495C=
c.4071C= (p.Thr1357=)
c.5268C= (p.Thr1756=)
c.5265C= (p.Thr1755=)
c.5220C= (p.Thr1740=)
c.4344C= (p.Thr1448=)
c.4113C= (p.Thr1371=)
10g.94298437C>GCA470986443PLCE1c.4302C>G (p.Thr1434=)
c.*1769C>G (n.*1769C>G)
n.1961C>G
n.645C>G
c.*510C>G (n.*510C>G)
c.4254C>G (p.Thr1418=)
n.9434C>G
n.2899C>G
c.5094C>G (p.Thr1698=)
c.5178C>G (p.Thr1726=)
c.5226C>G (p.Thr1742=)
c.4200C>G (p.Thr1400=)
c.3781C>G
c.3342C>G (p.Thr1114=)
c.*1159C>G (n.*1159C>G)
c.4495C>G
c.4071C>G (p.Thr1357=)
c.5268C>G (p.Thr1756=)
c.5265C>G (p.Thr1755=)
c.5220C>G (p.Thr1740=)
c.4344C>G (p.Thr1448=)
c.4113C>G (p.Thr1371=)
10g.94298437C>TCA470986444PLCE1c.4302C>T (p.Thr1434=)
c.*1769C>T (n.*1769C>T)
n.1961C>T
n.645C>T
c.*510C>T (n.*510C>T)
c.4254C>T (p.Thr1418=)
n.9434C>T
n.2899C>T
c.5094C>T (p.Thr1698=)
c.5178C>T (p.Thr1726=)
c.5226C>T (p.Thr1742=)
c.4200C>T (p.Thr1400=)
c.3781C>T
c.3342C>T (p.Thr1114=)
c.*1159C>T (n.*1159C>T)
c.4495C>T
c.4071C>T (p.Thr1357=)
c.5268C>T (p.Thr1756=)
c.5265C>T (p.Thr1755=)
c.5220C>T (p.Thr1740=)
c.4344C>T (p.Thr1448=)
c.4113C>T (p.Thr1371=)
dbSNP gnomAD v2 gnomAD v4
10g.94298438A>CCA377641772PLCE1c.4303A>C (p.Thr1435Pro)
c.*1770A>C (n.*1770A>C)
n.1962A>C
n.646A>C
c.*511A>C (n.*511A>C)
c.4255A>C (p.Thr1419Pro)
n.9435A>C
n.2900A>C
c.5095A>C (p.Thr1699Pro)
c.5179A>C (p.Thr1727Pro)
c.5227A>C (p.Thr1743Pro)
c.4201A>C (p.Thr1401Pro)
c.3782A>C
c.3343A>C (p.Thr1115Pro)
c.*1160A>C (n.*1160A>C)
c.4496A>C
c.4072A>C (p.Thr1358Pro)
c.5269A>C (p.Thr1757Pro)
c.5266A>C (p.Thr1756Pro)
c.5221A>C (p.Thr1741Pro)
c.4345A>C (p.Thr1449Pro)
c.4114A>C (p.Thr1372Pro)
10g.94298438A>GCA377641773PLCE1c.4303A>G (p.Thr1435Ala)
c.*1770A>G (n.*1770A>G)
n.1962A>G
n.646A>G
c.*511A>G (n.*511A>G)
c.4255A>G (p.Thr1419Ala)
n.9435A>G
n.2900A>G
c.5095A>G (p.Thr1699Ala)
c.5179A>G (p.Thr1727Ala)
c.5227A>G (p.Thr1743Ala)
c.4201A>G (p.Thr1401Ala)
c.3782A>G
c.3343A>G (p.Thr1115Ala)
c.*1160A>G (n.*1160A>G)
c.4496A>G
c.4072A>G (p.Thr1358Ala)
c.5269A>G (p.Thr1757Ala)
c.5266A>G (p.Thr1756Ala)
c.5221A>G (p.Thr1741Ala)
c.4345A>G (p.Thr1449Ala)
c.4114A>G (p.Thr1372Ala)
gnomAD v4
10g.94298438A>TCA377641774PLCE1c.4303A>T (p.Thr1435Ser)
c.*1770A>T (n.*1770A>T)
n.1962A>T
n.646A>T
c.*511A>T (n.*511A>T)
c.4255A>T (p.Thr1419Ser)
n.9435A>T
n.2900A>T
c.5095A>T (p.Thr1699Ser)
c.5179A>T (p.Thr1727Ser)
c.5227A>T (p.Thr1743Ser)
c.4201A>T (p.Thr1401Ser)
c.3782A>T
c.3343A>T (p.Thr1115Ser)
c.*1160A>T (n.*1160A>T)
c.4496A>T
c.4072A>T (p.Thr1358Ser)
c.5269A>T (p.Thr1757Ser)
c.5266A>T (p.Thr1756Ser)
c.5221A>T (p.Thr1741Ser)
c.4345A>T (p.Thr1449Ser)
c.4114A>T (p.Thr1372Ser)
10g.94298439C>ACA377641775PLCE1c.4304C>A (p.Thr1435Lys)
c.*1771C>A (n.*1771C>A)
n.1963C>A
n.647C>A
c.*512C>A (n.*512C>A)
c.4256C>A (p.Thr1419Lys)
n.9436C>A
n.2901C>A
c.5096C>A (p.Thr1699Lys)
c.5180C>A (p.Thr1727Lys)
c.5228C>A (p.Thr1743Lys)
c.4202C>A (p.Thr1401Lys)
c.3783C>A
c.3344C>A (p.Thr1115Lys)
c.*1161C>A (n.*1161C>A)
c.4497C>A
c.4073C>A (p.Thr1358Lys)
c.5270C>A (p.Thr1757Lys)
c.5267C>A (p.Thr1756Lys)
c.5222C>A (p.Thr1741Lys)
c.4346C>A (p.Thr1449Lys)
c.4115C>A (p.Thr1372Lys)
10g.94298439C=CA1928998393PLCE1c.4304C= (p.Thr1435=)
c.*1771C= (n.*1771C=)
n.1963C=
n.647C=
c.*512C= (n.*512C=)
c.4256C= (p.Thr1419=)
n.9436C=
n.2901C=
c.5096C= (p.Thr1699=)
c.5180C= (p.Thr1727=)
c.5228C= (p.Thr1743=)
c.4202C= (p.Thr1401=)
c.3783C=
c.3344C= (p.Thr1115=)
c.*1161C= (n.*1161C=)
c.4497C=
c.4073C= (p.Thr1358=)
c.5270C= (p.Thr1757=)
c.5267C= (p.Thr1756=)
c.5222C= (p.Thr1741=)
c.4346C= (p.Thr1449=)
c.4115C= (p.Thr1372=)
10g.94298439C>GCA377641776PLCE1c.4304C>G (p.Thr1435Arg)
c.*1771C>G (n.*1771C>G)
n.1963C>G
n.647C>G
c.*512C>G (n.*512C>G)
c.4256C>G (p.Thr1419Arg)
n.9436C>G
n.2901C>G
c.5096C>G (p.Thr1699Arg)
c.5180C>G (p.Thr1727Arg)
c.5228C>G (p.Thr1743Arg)
c.4202C>G (p.Thr1401Arg)
c.3783C>G
c.3344C>G (p.Thr1115Arg)
c.*1161C>G (n.*1161C>G)
c.4497C>G
c.4073C>G (p.Thr1358Arg)
c.5270C>G (p.Thr1757Arg)
c.5267C>G (p.Thr1756Arg)
c.5222C>G (p.Thr1741Arg)
c.4346C>G (p.Thr1449Arg)
c.4115C>G (p.Thr1372Arg)
10g.94298439C>TCA5613322PLCE1c.4304C>T (p.Thr1435Met)
c.*1771C>T (n.*1771C>T)
n.1963C>T
n.647C>T
c.*512C>T (n.*512C>T)
c.4256C>T (p.Thr1419Met)
n.9436C>T
n.2901C>T
c.5096C>T (p.Thr1699Met)
c.5180C>T (p.Thr1727Met)
c.5228C>T (p.Thr1743Met)
c.4202C>T (p.Thr1401Met)
c.3783C>T
c.3344C>T (p.Thr1115Met)
c.*1161C>T (n.*1161C>T)
c.4497C>T
c.4073C>T (p.Thr1358Met)
c.5270C>T (p.Thr1757Met)
c.5267C>T (p.Thr1756Met)
c.5222C>T (p.Thr1741Met)
c.4346C>T (p.Thr1449Met)
c.4115C>T (p.Thr1372Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298440G>ACA5613323PLCE1c.4305G>A (p.Thr1435=)
c.*1772G>A (n.*1772G>A)
n.1964G>A
n.648G>A
c.*513G>A (n.*513G>A)
c.4257G>A (p.Thr1419=)
n.9437G>A
n.2902G>A
c.5097G>A (p.Thr1699=)
c.5181G>A (p.Thr1727=)
c.5229G>A (p.Thr1743=)
c.4203G>A (p.Thr1401=)
c.3784G>A
c.3345G>A (p.Thr1115=)
c.*1162G>A (n.*1162G>A)
c.4498G>A
c.4074G>A (p.Thr1358=)
c.5271G>A (p.Thr1757=)
c.5268G>A (p.Thr1756=)
c.5223G>A (p.Thr1741=)
c.4347G>A (p.Thr1449=)
c.4116G>A (p.Thr1372=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298440G>CCA470986446PLCE1c.4305G>C (p.Thr1435=)
c.*1772G>C (n.*1772G>C)
n.1964G>C
n.648G>C
c.*513G>C (n.*513G>C)
c.4257G>C (p.Thr1419=)
n.9437G>C
n.2902G>C
c.5097G>C (p.Thr1699=)
c.5181G>C (p.Thr1727=)
c.5229G>C (p.Thr1743=)
c.4203G>C (p.Thr1401=)
c.3784G>C
c.3345G>C (p.Thr1115=)
c.*1162G>C (n.*1162G>C)
c.4498G>C
c.4074G>C (p.Thr1358=)
c.5271G>C (p.Thr1757=)
c.5268G>C (p.Thr1756=)
c.5223G>C (p.Thr1741=)
c.4347G>C (p.Thr1449=)
c.4116G>C (p.Thr1372=)
10g.94298440G=CA1928998394PLCE1c.4305G= (p.Thr1435=)
c.*1772G= (n.*1772G=)
n.1964G=
n.648G=
c.*513G= (n.*513G=)
c.4257G= (p.Thr1419=)
n.9437G=
n.2902G=
c.5097G= (p.Thr1699=)
c.5181G= (p.Thr1727=)
c.5229G= (p.Thr1743=)
c.4203G= (p.Thr1401=)
c.3784G=
c.3345G= (p.Thr1115=)
c.*1162G= (n.*1162G=)
c.4498G=
c.4074G= (p.Thr1358=)
c.5271G= (p.Thr1757=)
c.5268G= (p.Thr1756=)
c.5223G= (p.Thr1741=)
c.4347G= (p.Thr1449=)
c.4116G= (p.Thr1372=)
10g.94298440G>TCA470986447PLCE1c.4305G>T (p.Thr1435=)
c.*1772G>T (n.*1772G>T)
n.1964G>T
n.648G>T
c.*513G>T (n.*513G>T)
c.4257G>T (p.Thr1419=)
n.9437G>T
n.2902G>T
c.5097G>T (p.Thr1699=)
c.5181G>T (p.Thr1727=)
c.5229G>T (p.Thr1743=)
c.4203G>T (p.Thr1401=)
c.3784G>T
c.3345G>T (p.Thr1115=)
c.*1162G>T (n.*1162G>T)
c.4498G>T
c.4074G>T (p.Thr1358=)
c.5271G>T (p.Thr1757=)
c.5268G>T (p.Thr1756=)
c.5223G>T (p.Thr1741=)
c.4347G>T (p.Thr1449=)
c.4116G>T (p.Thr1372=)
10g.94298441T>ACA377641779PLCE1c.4306T>A (p.Ser1436Thr)
c.*1773T>A (n.*1773T>A)
n.1965T>A
n.649T>A
c.*514T>A (n.*514T>A)
c.4258T>A (p.Ser1420Thr)
n.9438T>A
n.2903T>A
c.5098T>A (p.Ser1700Thr)
c.5182T>A (p.Ser1728Thr)
c.5230T>A (p.Ser1744Thr)
c.4204T>A (p.Ser1402Thr)
c.3785T>A
c.3346T>A (p.Ser1116Thr)
c.*1163T>A (n.*1163T>A)
c.4499T>A
c.4075T>A (p.Ser1359Thr)
c.5272T>A (p.Ser1758Thr)
c.5269T>A (p.Ser1757Thr)
c.5224T>A (p.Ser1742Thr)
c.4348T>A (p.Ser1450Thr)
c.4117T>A (p.Ser1373Thr)
10g.94298441T>CCA377641777PLCE1c.4306T>C (p.Ser1436Pro)
c.*1773T>C (n.*1773T>C)
n.1965T>C
n.649T>C
c.*514T>C (n.*514T>C)
c.4258T>C (p.Ser1420Pro)
n.9438T>C
n.2903T>C
c.5098T>C (p.Ser1700Pro)
c.5182T>C (p.Ser1728Pro)
c.5230T>C (p.Ser1744Pro)
c.4204T>C (p.Ser1402Pro)
c.3785T>C
c.3346T>C (p.Ser1116Pro)
c.*1163T>C (n.*1163T>C)
c.4499T>C
c.4075T>C (p.Ser1359Pro)
c.5272T>C (p.Ser1758Pro)
c.5269T>C (p.Ser1757Pro)
c.5224T>C (p.Ser1742Pro)
c.4348T>C (p.Ser1450Pro)
c.4117T>C (p.Ser1373Pro)
10g.94298441T>GCA377641778PLCE1c.4306T>G (p.Ser1436Ala)
c.*1773T>G (n.*1773T>G)
n.1965T>G
n.649T>G
c.*514T>G (n.*514T>G)
c.4258T>G (p.Ser1420Ala)
n.9438T>G
n.2903T>G
c.5098T>G (p.Ser1700Ala)
c.5182T>G (p.Ser1728Ala)
c.5230T>G (p.Ser1744Ala)
c.4204T>G (p.Ser1402Ala)
c.3785T>G
c.3346T>G (p.Ser1116Ala)
c.*1163T>G (n.*1163T>G)
c.4499T>G
c.4075T>G (p.Ser1359Ala)
c.5272T>G (p.Ser1758Ala)
c.5269T>G (p.Ser1757Ala)
c.5224T>G (p.Ser1742Ala)
c.4348T>G (p.Ser1450Ala)
c.4117T>G (p.Ser1373Ala)
10g.94298441_94298450delinsTCCCTCAGTGCA1928998395PLCE1c.4306_4315delinsTCCCTCAGTG (p.Ser1436=)
c.*1773_*1782delinsTCCCTCAGTG (n.*1773_*1782delinsTCCCTCAGTG)
n.1965_1974delinsTCCCTCAGTG
n.649_658delinsTCCCTCAGTG
c.*514_*523delinsTCCCTCAGTG (n.*514_*523delinsTCCCTCAGTG)
c.4258_4267delinsTCCCTCAGTG (p.Ser1420=)
n.9438_9447delinsTCCCTCAGTG
n.2903_2912delinsTCCCTCAGTG
c.5098_5107delinsTCCCTCAGTG (p.Ser1700=)
c.5182_5191delinsTCCCTCAGTG (p.Ser1728=)
c.5230_5239delinsTCCCTCAGTG (p.Ser1744=)
c.4204_4213delinsTCCCTCAGTG (p.Ser1402=)
c.3785_3794delinsTCCCTCAGTG
c.3346_3355delinsTCCCTCAGTG (p.Ser1116=)
c.*1163_*1172delinsTCCCTCAGTG (n.*1163_*1172delinsTCCCTCAGTG)
c.4499_4508delinsTCCCTCAGTG
c.4075_4084delinsTCCCTCAGTG (p.Ser1359=)
c.5272_5281delinsTCCCTCAGTG (p.Ser1758=)
c.5269_5278delinsTCCCTCAGTG (p.Ser1757=)
c.5224_5233delinsTCCCTCAGTG (p.Ser1742=)
c.4348_4357delinsTCCCTCAGTG (p.Ser1450=)
c.4117_4126delinsTCCCTCAGTG (p.Ser1373=)
10g.94298442C>ACA377641780PLCE1c.4307C>A (p.Ser1436Tyr)
c.*1774C>A (n.*1774C>A)
n.1966C>A
n.650C>A
c.*515C>A (n.*515C>A)
c.4259C>A (p.Ser1420Tyr)
n.9439C>A
n.2904C>A
c.5099C>A (p.Ser1700Tyr)
c.5183C>A (p.Ser1728Tyr)
c.5231C>A (p.Ser1744Tyr)
c.4205C>A (p.Ser1402Tyr)
c.3786C>A
c.3347C>A (p.Ser1116Tyr)
c.*1164C>A (n.*1164C>A)
c.4500C>A
c.4076C>A (p.Ser1359Tyr)
c.5273C>A (p.Ser1758Tyr)
c.5270C>A (p.Ser1757Tyr)
c.5225C>A (p.Ser1742Tyr)
c.4349C>A (p.Ser1450Tyr)
c.4118C>A (p.Ser1373Tyr)
dbSNP gnomAD v2 gnomAD v4
10g.94298442C=CA1928998397PLCE1c.4307C= (p.Ser1436=)
c.*1774C= (n.*1774C=)
n.1966C=
n.650C=
c.*515C= (n.*515C=)
c.4259C= (p.Ser1420=)
n.9439C=
n.2904C=
c.5099C= (p.Ser1700=)
c.5183C= (p.Ser1728=)
c.5231C= (p.Ser1744=)
c.4205C= (p.Ser1402=)
c.3786C=
c.3347C= (p.Ser1116=)
c.*1164C= (n.*1164C=)
c.4500C=
c.4076C= (p.Ser1359=)
c.5273C= (p.Ser1758=)
c.5270C= (p.Ser1757=)
c.5225C= (p.Ser1742=)
c.4349C= (p.Ser1450=)
c.4118C= (p.Ser1373=)
10g.94298442C>GCA377641781PLCE1c.4307C>G (p.Ser1436Cys)
c.*1774C>G (n.*1774C>G)
n.1966C>G
n.650C>G
c.*515C>G (n.*515C>G)
c.4259C>G (p.Ser1420Cys)
n.9439C>G
n.2904C>G
c.5099C>G (p.Ser1700Cys)
c.5183C>G (p.Ser1728Cys)
c.5231C>G (p.Ser1744Cys)
c.4205C>G (p.Ser1402Cys)
c.3786C>G
c.3347C>G (p.Ser1116Cys)
c.*1164C>G (n.*1164C>G)
c.4500C>G
c.4076C>G (p.Ser1359Cys)
c.5273C>G (p.Ser1758Cys)
c.5270C>G (p.Ser1757Cys)
c.5225C>G (p.Ser1742Cys)
c.4349C>G (p.Ser1450Cys)
c.4118C>G (p.Ser1373Cys)
10g.94298442C>TCA377641782PLCE1c.4307C>T (p.Ser1436Phe)
c.*1774C>T (n.*1774C>T)
n.1966C>T
n.650C>T
c.*515C>T (n.*515C>T)
c.4259C>T (p.Ser1420Phe)
n.9439C>T
n.2904C>T
c.5099C>T (p.Ser1700Phe)
c.5183C>T (p.Ser1728Phe)
c.5231C>T (p.Ser1744Phe)
c.4205C>T (p.Ser1402Phe)
c.3786C>T
c.3347C>T (p.Ser1116Phe)
c.*1164C>T (n.*1164C>T)
c.4500C>T
c.4076C>T (p.Ser1359Phe)
c.5273C>T (p.Ser1758Phe)
c.5270C>T (p.Ser1757Phe)
c.5225C>T (p.Ser1742Phe)
c.4349C>T (p.Ser1450Phe)
c.4118C>T (p.Ser1373Phe)
10g.94298443_94298451delCA1928998396PLCE1c.4308_4316del (p.Leu1437_Ala1439del)
c.*1775_*1783del (n.*1775_*1783del)
n.1967_1975del
n.651_659del
c.*516_*524del (n.*516_*524del)
c.4260_4268del (p.Leu1421_Ala1423del)
n.9440_9448del
n.2905_2913del
c.5100_5108del (p.Leu1701_Ala1703del)
c.5184_5192del (p.Leu1729_Ala1731del)
c.5232_5240del (p.Leu1745_Ala1747del)
c.4206_4214del (p.Leu1403_Ala1405del)
c.3787_3795del
c.3348_3356del (p.Leu1117_Ala1119del)
c.*1165_*1173del (n.*1165_*1173del)
c.4501_4509del
c.4077_4085del (p.Leu1360_Ala1362del)
c.5274_5282del (p.Leu1759_Ala1761del)
c.5271_5279del (p.Leu1758_Ala1760del)
c.5226_5234del (p.Leu1743_Ala1745del)
c.4350_4358del (p.Leu1451_Ala1453del)
c.4119_4127del (p.Leu1374_Ala1376del)
dbSNP
10g.94298443C>ACA470986451PLCE1c.4308C>A (p.Ser1436=)
c.*1775C>A (n.*1775C>A)
n.1967C>A
n.651C>A
c.*516C>A (n.*516C>A)
c.4260C>A (p.Ser1420=)
n.9440C>A
n.2905C>A
c.5100C>A (p.Ser1700=)
c.5184C>A (p.Ser1728=)
c.5232C>A (p.Ser1744=)
c.4206C>A (p.Ser1402=)
c.3787C>A
c.3348C>A (p.Ser1116=)
c.*1165C>A (n.*1165C>A)
c.4501C>A
c.4077C>A (p.Ser1359=)
c.5274C>A (p.Ser1758=)
c.5271C>A (p.Ser1757=)
c.5226C>A (p.Ser1742=)
c.4350C>A (p.Ser1450=)
c.4119C>A (p.Ser1373=)
10g.94298443C=CA1928998398PLCE1c.4308C= (p.Ser1436=)
c.*1775C= (n.*1775C=)
n.1967C=
n.651C=
c.*516C= (n.*516C=)
c.4260C= (p.Ser1420=)
n.9440C=
n.2905C=
c.5100C= (p.Ser1700=)
c.5184C= (p.Ser1728=)
c.5232C= (p.Ser1744=)
c.4206C= (p.Ser1402=)
c.3787C=
c.3348C= (p.Ser1116=)
c.*1165C= (n.*1165C=)
c.4501C=
c.4077C= (p.Ser1359=)
c.5274C= (p.Ser1758=)
c.5271C= (p.Ser1757=)
c.5226C= (p.Ser1742=)
c.4350C= (p.Ser1450=)
c.4119C= (p.Ser1373=)
10g.94298443C>GCA470986453PLCE1c.4308C>G (p.Ser1436=)
c.*1775C>G (n.*1775C>G)
n.1967C>G
n.651C>G
c.*516C>G (n.*516C>G)
c.4260C>G (p.Ser1420=)
n.9440C>G
n.2905C>G
c.5100C>G (p.Ser1700=)
c.5184C>G (p.Ser1728=)
c.5232C>G (p.Ser1744=)
c.4206C>G (p.Ser1402=)
c.3787C>G
c.3348C>G (p.Ser1116=)
c.*1165C>G (n.*1165C>G)
c.4501C>G
c.4077C>G (p.Ser1359=)
c.5274C>G (p.Ser1758=)
c.5271C>G (p.Ser1757=)
c.5226C>G (p.Ser1742=)
c.4350C>G (p.Ser1450=)
c.4119C>G (p.Ser1373=)
10g.94298443C>TCA470986452PLCE1c.4308C>T (p.Ser1436=)
c.*1775C>T (n.*1775C>T)
n.1967C>T
n.651C>T
c.*516C>T (n.*516C>T)
c.4260C>T (p.Ser1420=)
n.9440C>T
n.2905C>T
c.5100C>T (p.Ser1700=)
c.5184C>T (p.Ser1728=)
c.5232C>T (p.Ser1744=)
c.4206C>T (p.Ser1402=)
c.3787C>T
c.3348C>T (p.Ser1116=)
c.*1165C>T (n.*1165C>T)
c.4501C>T
c.4077C>T (p.Ser1359=)
c.5274C>T (p.Ser1758=)
c.5271C>T (p.Ser1757=)
c.5226C>T (p.Ser1742=)
c.4350C>T (p.Ser1450=)
c.4119C>T (p.Ser1373=)
dbSNP
10g.94298444C>ACA377641783PLCE1c.4309C>A (p.Leu1437Ile)
c.*1776C>A (n.*1776C>A)
n.1968C>A
n.652C>A
c.*517C>A (n.*517C>A)
c.4261C>A (p.Leu1421Ile)
n.9441C>A
n.2906C>A
c.5101C>A (p.Leu1701Ile)
c.5185C>A (p.Leu1729Ile)
c.5233C>A (p.Leu1745Ile)
c.4207C>A (p.Leu1403Ile)
c.3788C>A
c.3349C>A (p.Leu1117Ile)
c.*1166C>A (n.*1166C>A)
c.4502C>A
c.4078C>A (p.Leu1360Ile)
c.5275C>A (p.Leu1759Ile)
c.5272C>A (p.Leu1758Ile)
c.5227C>A (p.Leu1743Ile)
c.4351C>A (p.Leu1451Ile)
c.4120C>A (p.Leu1374Ile)
COSMIC COSMIC COSMIC COSMIC
10g.94298444C=CA1928998399PLCE1c.4309C= (p.Leu1437=)
c.*1776C= (n.*1776C=)
n.1968C=
n.652C=
c.*517C= (n.*517C=)
c.4261C= (p.Leu1421=)
n.9441C=
n.2906C=
c.5101C= (p.Leu1701=)
c.5185C= (p.Leu1729=)
c.5233C= (p.Leu1745=)
c.4207C= (p.Leu1403=)
c.3788C=
c.3349C= (p.Leu1117=)
c.*1166C= (n.*1166C=)
c.4502C=
c.4078C= (p.Leu1360=)
c.5275C= (p.Leu1759=)
c.5272C= (p.Leu1758=)
c.5227C= (p.Leu1743=)
c.4351C= (p.Leu1451=)
c.4120C= (p.Leu1374=)
10g.94298444C>GCA377641784PLCE1c.4309C>G (p.Leu1437Val)
c.*1776C>G (n.*1776C>G)
n.1968C>G
n.652C>G
c.*517C>G (n.*517C>G)
c.4261C>G (p.Leu1421Val)
n.9441C>G
n.2906C>G
c.5101C>G (p.Leu1701Val)
c.5185C>G (p.Leu1729Val)
c.5233C>G (p.Leu1745Val)
c.4207C>G (p.Leu1403Val)
c.3788C>G
c.3349C>G (p.Leu1117Val)
c.*1166C>G (n.*1166C>G)
c.4502C>G
c.4078C>G (p.Leu1360Val)
c.5275C>G (p.Leu1759Val)
c.5272C>G (p.Leu1758Val)
c.5227C>G (p.Leu1743Val)
c.4351C>G (p.Leu1451Val)
c.4120C>G (p.Leu1374Val)
10g.94298444C>TCA377641785PLCE1c.4309C>T (p.Leu1437Phe)
c.*1776C>T (n.*1776C>T)
n.1968C>T
n.652C>T
c.*517C>T (n.*517C>T)
c.4261C>T (p.Leu1421Phe)
n.9441C>T
n.2906C>T
c.5101C>T (p.Leu1701Phe)
c.5185C>T (p.Leu1729Phe)
c.5233C>T (p.Leu1745Phe)
c.4207C>T (p.Leu1403Phe)
c.3788C>T
c.3349C>T (p.Leu1117Phe)
c.*1166C>T (n.*1166C>T)
c.4502C>T
c.4078C>T (p.Leu1360Phe)
c.5275C>T (p.Leu1759Phe)
c.5272C>T (p.Leu1758Phe)
c.5227C>T (p.Leu1743Phe)
c.4351C>T (p.Leu1451Phe)
c.4120C>T (p.Leu1374Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.94298445T>ACA377641786PLCE1c.4310T>A (p.Leu1437His)
c.*1777T>A (n.*1777T>A)
n.1969T>A
n.653T>A
c.*518T>A (n.*518T>A)
c.4262T>A (p.Leu1421His)
n.9442T>A
n.2907T>A
c.5102T>A (p.Leu1701His)
c.5186T>A (p.Leu1729His)
c.5234T>A (p.Leu1745His)
c.4208T>A (p.Leu1403His)
c.3789T>A
c.3350T>A (p.Leu1117His)
c.*1167T>A (n.*1167T>A)
c.4503T>A
c.4079T>A (p.Leu1360His)
c.5276T>A (p.Leu1759His)
c.5273T>A (p.Leu1758His)
c.5228T>A (p.Leu1743His)
c.4352T>A (p.Leu1451His)
c.4121T>A (p.Leu1374His)
10g.94298445T>CCA377641787PLCE1c.4310T>C (p.Leu1437Pro)
c.*1777T>C (n.*1777T>C)
n.1969T>C
n.653T>C
c.*518T>C (n.*518T>C)
c.4262T>C (p.Leu1421Pro)
n.9442T>C
n.2907T>C
c.5102T>C (p.Leu1701Pro)
c.5186T>C (p.Leu1729Pro)
c.5234T>C (p.Leu1745Pro)
c.4208T>C (p.Leu1403Pro)
c.3789T>C
c.3350T>C (p.Leu1117Pro)
c.*1167T>C (n.*1167T>C)
c.4503T>C
c.4079T>C (p.Leu1360Pro)
c.5276T>C (p.Leu1759Pro)
c.5273T>C (p.Leu1758Pro)
c.5228T>C (p.Leu1743Pro)
c.4352T>C (p.Leu1451Pro)
c.4121T>C (p.Leu1374Pro)
10g.94298445T>GCA377641788PLCE1c.4310T>G (p.Leu1437Arg)
c.*1777T>G (n.*1777T>G)
n.1969T>G
n.653T>G
c.*518T>G (n.*518T>G)
c.4262T>G (p.Leu1421Arg)
n.9442T>G
n.2907T>G
c.5102T>G (p.Leu1701Arg)
c.5186T>G (p.Leu1729Arg)
c.5234T>G (p.Leu1745Arg)
c.4208T>G (p.Leu1403Arg)
c.3789T>G
c.3350T>G (p.Leu1117Arg)
c.*1167T>G (n.*1167T>G)
c.4503T>G
c.4079T>G (p.Leu1360Arg)
c.5276T>G (p.Leu1759Arg)
c.5273T>G (p.Leu1758Arg)
c.5228T>G (p.Leu1743Arg)
c.4352T>G (p.Leu1451Arg)
c.4121T>G (p.Leu1374Arg)
10g.94298446C>ACA470986454PLCE1c.4311C>A (p.Leu1437=)
c.*1778C>A (n.*1778C>A)
n.1970C>A
n.654C>A
c.*519C>A (n.*519C>A)
c.4263C>A (p.Leu1421=)
n.9443C>A
n.2908C>A
c.5103C>A (p.Leu1701=)
c.5187C>A (p.Leu1729=)
c.5235C>A (p.Leu1745=)
c.4209C>A (p.Leu1403=)
c.3790C>A
c.3351C>A (p.Leu1117=)
c.*1168C>A (n.*1168C>A)
c.4504C>A
c.4080C>A (p.Leu1360=)
c.5277C>A (p.Leu1759=)
c.5274C>A (p.Leu1758=)
c.5229C>A (p.Leu1743=)
c.4353C>A (p.Leu1451=)
c.4122C>A (p.Leu1374=)
10g.94298446C>GCA470986455PLCE1c.4311C>G (p.Leu1437=)
c.*1778C>G (n.*1778C>G)
n.1970C>G
n.654C>G
c.*519C>G (n.*519C>G)
c.4263C>G (p.Leu1421=)
n.9443C>G
n.2908C>G
c.5103C>G (p.Leu1701=)
c.5187C>G (p.Leu1729=)
c.5235C>G (p.Leu1745=)
c.4209C>G (p.Leu1403=)
c.3790C>G
c.3351C>G (p.Leu1117=)
c.*1168C>G (n.*1168C>G)
c.4504C>G
c.4080C>G (p.Leu1360=)
c.5277C>G (p.Leu1759=)
c.5274C>G (p.Leu1758=)
c.5229C>G (p.Leu1743=)
c.4353C>G (p.Leu1451=)
c.4122C>G (p.Leu1374=)
10g.94298446C>TCA470986456PLCE1c.4311C>T (p.Leu1437=)
c.*1778C>T (n.*1778C>T)
n.1970C>T
n.654C>T
c.*519C>T (n.*519C>T)
c.4263C>T (p.Leu1421=)
n.9443C>T
n.2908C>T
c.5103C>T (p.Leu1701=)
c.5187C>T (p.Leu1729=)
c.5235C>T (p.Leu1745=)
c.4209C>T (p.Leu1403=)
c.3790C>T
c.3351C>T (p.Leu1117=)
c.*1168C>T (n.*1168C>T)
c.4504C>T
c.4080C>T (p.Leu1360=)
c.5277C>T (p.Leu1759=)
c.5274C>T (p.Leu1758=)
c.5229C>T (p.Leu1743=)
c.4353C>T (p.Leu1451=)
c.4122C>T (p.Leu1374=)
10g.94298447A>CCA377641789PLCE1c.4312A>C (p.Ser1438Arg)
c.*1779A>C (n.*1779A>C)
n.1971A>C
n.655A>C
c.*520A>C (n.*520A>C)
c.4264A>C (p.Ser1422Arg)
n.9444A>C
n.2909A>C
c.5104A>C (p.Ser1702Arg)
c.5188A>C (p.Ser1730Arg)
c.5236A>C (p.Ser1746Arg)
c.4210A>C (p.Ser1404Arg)
c.3791A>C
c.3352A>C (p.Ser1118Arg)
c.*1169A>C (n.*1169A>C)
c.4505A>C
c.4081A>C (p.Ser1361Arg)
c.5278A>C (p.Ser1760Arg)
c.5275A>C (p.Ser1759Arg)
c.5230A>C (p.Ser1744Arg)
c.4354A>C (p.Ser1452Arg)
c.4123A>C (p.Ser1375Arg)
10g.94298447A>GCA377641790PLCE1c.4312A>G (p.Ser1438Gly)
c.*1779A>G (n.*1779A>G)
n.1971A>G
n.655A>G
c.*520A>G (n.*520A>G)
c.4264A>G (p.Ser1422Gly)
n.9444A>G
n.2909A>G
c.5104A>G (p.Ser1702Gly)
c.5188A>G (p.Ser1730Gly)
c.5236A>G (p.Ser1746Gly)
c.4210A>G (p.Ser1404Gly)
c.3791A>G
c.3352A>G (p.Ser1118Gly)
c.*1169A>G (n.*1169A>G)
c.4505A>G
c.4081A>G (p.Ser1361Gly)
c.5278A>G (p.Ser1760Gly)
c.5275A>G (p.Ser1759Gly)
c.5230A>G (p.Ser1744Gly)
c.4354A>G (p.Ser1452Gly)
c.4123A>G (p.Ser1375Gly)
10g.94298447A>TCA377641791PLCE1c.4312A>T (p.Ser1438Cys)
c.*1779A>T (n.*1779A>T)
n.1971A>T
n.655A>T
c.*520A>T (n.*520A>T)
c.4264A>T (p.Ser1422Cys)
n.9444A>T
n.2909A>T
c.5104A>T (p.Ser1702Cys)
c.5188A>T (p.Ser1730Cys)
c.5236A>T (p.Ser1746Cys)
c.4210A>T (p.Ser1404Cys)
c.3791A>T
c.3352A>T (p.Ser1118Cys)
c.*1169A>T (n.*1169A>T)
c.4505A>T
c.4081A>T (p.Ser1361Cys)
c.5278A>T (p.Ser1760Cys)
c.5275A>T (p.Ser1759Cys)
c.5230A>T (p.Ser1744Cys)
c.4354A>T (p.Ser1452Cys)
c.4123A>T (p.Ser1375Cys)
10g.94298448G>ACA377641793PLCE1c.4313G>A (p.Ser1438Asn)
c.*1780G>A (n.*1780G>A)
n.1972G>A
n.656G>A
c.*521G>A (n.*521G>A)
c.4265G>A (p.Ser1422Asn)
n.9445G>A
n.2910G>A
c.5105G>A (p.Ser1702Asn)
c.5189G>A (p.Ser1730Asn)
c.5237G>A (p.Ser1746Asn)
c.4211G>A (p.Ser1404Asn)
c.3792G>A
c.3353G>A (p.Ser1118Asn)
c.*1170G>A (n.*1170G>A)
c.4506G>A
c.4082G>A (p.Ser1361Asn)
c.5279G>A (p.Ser1760Asn)
c.5276G>A (p.Ser1759Asn)
c.5231G>A (p.Ser1744Asn)
c.4355G>A (p.Ser1452Asn)
c.4124G>A (p.Ser1375Asn)
10g.94298448G>CCA377641794PLCE1c.4313G>C (p.Ser1438Thr)
c.*1780G>C (n.*1780G>C)
n.1972G>C
n.656G>C
c.*521G>C (n.*521G>C)
c.4265G>C (p.Ser1422Thr)
n.9445G>C
n.2910G>C
c.5105G>C (p.Ser1702Thr)
c.5189G>C (p.Ser1730Thr)
c.5237G>C (p.Ser1746Thr)
c.4211G>C (p.Ser1404Thr)
c.3792G>C
c.3353G>C (p.Ser1118Thr)
c.*1170G>C (n.*1170G>C)
c.4506G>C
c.4082G>C (p.Ser1361Thr)
c.5279G>C (p.Ser1760Thr)
c.5276G>C (p.Ser1759Thr)
c.5231G>C (p.Ser1744Thr)
c.4355G>C (p.Ser1452Thr)
c.4124G>C (p.Ser1375Thr)
10g.94298448G>TCA377641792PLCE1c.4313G>T (p.Ser1438Ile)
c.*1780G>T (n.*1780G>T)
n.1972G>T
n.656G>T
c.*521G>T (n.*521G>T)
c.4265G>T (p.Ser1422Ile)
n.9445G>T
n.2910G>T
c.5105G>T (p.Ser1702Ile)
c.5189G>T (p.Ser1730Ile)
c.5237G>T (p.Ser1746Ile)
c.4211G>T (p.Ser1404Ile)
c.3792G>T
c.3353G>T (p.Ser1118Ile)
c.*1170G>T (n.*1170G>T)
c.4506G>T
c.4082G>T (p.Ser1361Ile)
c.5279G>T (p.Ser1760Ile)
c.5276G>T (p.Ser1759Ile)
c.5231G>T (p.Ser1744Ile)
c.4355G>T (p.Ser1452Ile)
c.4124G>T (p.Ser1375Ile)
10g.94298449T>ACA377641795PLCE1c.4314T>A (p.Ser1438Arg)
c.*1781T>A (n.*1781T>A)
n.1973T>A
n.657T>A
c.*522T>A (n.*522T>A)
c.4266T>A (p.Ser1422Arg)
n.9446T>A
n.2911T>A
c.5106T>A (p.Ser1702Arg)
c.5190T>A (p.Ser1730Arg)
c.5238T>A (p.Ser1746Arg)
c.4212T>A (p.Ser1404Arg)
c.3793T>A
c.3354T>A (p.Ser1118Arg)
c.*1171T>A (n.*1171T>A)
c.4507T>A
c.4083T>A (p.Ser1361Arg)
c.5280T>A (p.Ser1760Arg)
c.5277T>A (p.Ser1759Arg)
c.5232T>A (p.Ser1744Arg)
c.4356T>A (p.Ser1452Arg)
c.4125T>A (p.Ser1375Arg)
10g.94298449T>CCA470986460PLCE1c.4314T>C (p.Ser1438=)
c.*1781T>C (n.*1781T>C)
n.1973T>C
n.657T>C
c.*522T>C (n.*522T>C)
c.4266T>C (p.Ser1422=)
n.9446T>C
n.2911T>C
c.5106T>C (p.Ser1702=)
c.5190T>C (p.Ser1730=)
c.5238T>C (p.Ser1746=)
c.4212T>C (p.Ser1404=)
c.3793T>C
c.3354T>C (p.Ser1118=)
c.*1171T>C (n.*1171T>C)
c.4507T>C
c.4083T>C (p.Ser1361=)
c.5280T>C (p.Ser1760=)
c.5277T>C (p.Ser1759=)
c.5232T>C (p.Ser1744=)
c.4356T>C (p.Ser1452=)
c.4125T>C (p.Ser1375=)
10g.94298449T>GCA377641796PLCE1c.4314T>G (p.Ser1438Arg)
c.*1781T>G (n.*1781T>G)
n.1973T>G
n.657T>G
c.*522T>G (n.*522T>G)
c.4266T>G (p.Ser1422Arg)
n.9446T>G
n.2911T>G
c.5106T>G (p.Ser1702Arg)
c.5190T>G (p.Ser1730Arg)
c.5238T>G (p.Ser1746Arg)
c.4212T>G (p.Ser1404Arg)
c.3793T>G
c.3354T>G (p.Ser1118Arg)
c.*1171T>G (n.*1171T>G)
c.4507T>G
c.4083T>G (p.Ser1361Arg)
c.5280T>G (p.Ser1760Arg)
c.5277T>G (p.Ser1759Arg)
c.5232T>G (p.Ser1744Arg)
c.4356T>G (p.Ser1452Arg)
c.4125T>G (p.Ser1375Arg)
10g.94298450G>ACA377641797PLCE1c.4315G>A (p.Ala1439Thr)
c.*1782G>A (n.*1782G>A)
n.1974G>A
n.658G>A
c.*523G>A (n.*523G>A)
c.4267G>A (p.Ala1423Thr)
n.9447G>A
n.2912G>A
c.5107G>A (p.Ala1703Thr)
c.5191G>A (p.Ala1731Thr)
c.5239G>A (p.Ala1747Thr)
c.4213G>A (p.Ala1405Thr)
c.3794G>A
c.3355G>A (p.Ala1119Thr)
c.*1172G>A (n.*1172G>A)
c.4508G>A
c.4084G>A (p.Ala1362Thr)
c.5281G>A (p.Ala1761Thr)
c.5278G>A (p.Ala1760Thr)
c.5233G>A (p.Ala1745Thr)
c.4357G>A (p.Ala1453Thr)
c.4126G>A (p.Ala1376Thr)
10g.94298450G>CCA377641798PLCE1c.4315G>C (p.Ala1439Pro)
c.*1782G>C (n.*1782G>C)
n.1974G>C
n.658G>C
c.*523G>C (n.*523G>C)
c.4267G>C (p.Ala1423Pro)
n.9447G>C
n.2912G>C
c.5107G>C (p.Ala1703Pro)
c.5191G>C (p.Ala1731Pro)
c.5239G>C (p.Ala1747Pro)
c.4213G>C (p.Ala1405Pro)
c.3794G>C
c.3355G>C (p.Ala1119Pro)
c.*1172G>C (n.*1172G>C)
c.4508G>C
c.4084G>C (p.Ala1362Pro)
c.5281G>C (p.Ala1761Pro)
c.5278G>C (p.Ala1760Pro)
c.5233G>C (p.Ala1745Pro)
c.4357G>C (p.Ala1453Pro)
c.4126G>C (p.Ala1376Pro)
10g.94298450G>TCA377641799PLCE1c.4315G>T (p.Ala1439Ser)
c.*1782G>T (n.*1782G>T)
n.1974G>T
n.658G>T
c.*523G>T (n.*523G>T)
c.4267G>T (p.Ala1423Ser)
n.9447G>T
n.2912G>T
c.5107G>T (p.Ala1703Ser)
c.5191G>T (p.Ala1731Ser)
c.5239G>T (p.Ala1747Ser)
c.4213G>T (p.Ala1405Ser)
c.3794G>T
c.3355G>T (p.Ala1119Ser)
c.*1172G>T (n.*1172G>T)
c.4508G>T
c.4084G>T (p.Ala1362Ser)
c.5281G>T (p.Ala1761Ser)
c.5278G>T (p.Ala1760Ser)
c.5233G>T (p.Ala1745Ser)
c.4357G>T (p.Ala1453Ser)
c.4126G>T (p.Ala1376Ser)
10g.94298451C>ACA377641800PLCE1c.4316C>A (p.Ala1439Asp)
c.*1783C>A (n.*1783C>A)
n.1975C>A
n.659C>A
c.*524C>A (n.*524C>A)
c.4268C>A (p.Ala1423Asp)
n.9448C>A
n.2913C>A
c.5108C>A (p.Ala1703Asp)
c.5192C>A (p.Ala1731Asp)
c.5240C>A (p.Ala1747Asp)
c.4214C>A (p.Ala1405Asp)
c.3795C>A
c.3356C>A (p.Ala1119Asp)
c.*1173C>A (n.*1173C>A)
c.4509C>A
c.4085C>A (p.Ala1362Asp)
c.5282C>A (p.Ala1761Asp)
c.5279C>A (p.Ala1760Asp)
c.5234C>A (p.Ala1745Asp)
c.4358C>A (p.Ala1453Asp)
c.4127C>A (p.Ala1376Asp)
10g.94298451C=CA1928998400PLCE1c.4316C= (p.Ala1439=)
c.*1783C= (n.*1783C=)
n.1975C=
n.659C=
c.*524C= (n.*524C=)
c.4268C= (p.Ala1423=)
n.9448C=
n.2913C=
c.5108C= (p.Ala1703=)
c.5192C= (p.Ala1731=)
c.5240C= (p.Ala1747=)
c.4214C= (p.Ala1405=)
c.3795C=
c.3356C= (p.Ala1119=)
c.*1173C= (n.*1173C=)
c.4509C=
c.4085C= (p.Ala1362=)
c.5282C= (p.Ala1761=)
c.5279C= (p.Ala1760=)
c.5234C= (p.Ala1745=)
c.4358C= (p.Ala1453=)
c.4127C= (p.Ala1376=)
10g.94298451C>GCA377641801PLCE1c.4316C>G (p.Ala1439Gly)
c.*1783C>G (n.*1783C>G)
n.1975C>G
n.659C>G
c.*524C>G (n.*524C>G)
c.4268C>G (p.Ala1423Gly)
n.9448C>G
n.2913C>G
c.5108C>G (p.Ala1703Gly)
c.5192C>G (p.Ala1731Gly)
c.5240C>G (p.Ala1747Gly)
c.4214C>G (p.Ala1405Gly)
c.3795C>G
c.3356C>G (p.Ala1119Gly)
c.*1173C>G (n.*1173C>G)
c.4509C>G
c.4085C>G (p.Ala1362Gly)
c.5282C>G (p.Ala1761Gly)
c.5279C>G (p.Ala1760Gly)
c.5234C>G (p.Ala1745Gly)
c.4358C>G (p.Ala1453Gly)
c.4127C>G (p.Ala1376Gly)
dbSNP gnomAD v3 gnomAD v4
10g.94298451C>TCA377641802PLCE1c.4316C>T (p.Ala1439Val)
c.*1783C>T (n.*1783C>T)
n.1975C>T
n.659C>T
c.*524C>T (n.*524C>T)
c.4268C>T (p.Ala1423Val)
n.9448C>T
n.2913C>T
c.5108C>T (p.Ala1703Val)
c.5192C>T (p.Ala1731Val)
c.5240C>T (p.Ala1747Val)
c.4214C>T (p.Ala1405Val)
c.3795C>T
c.3356C>T (p.Ala1119Val)
c.*1173C>T (n.*1173C>T)
c.4509C>T
c.4085C>T (p.Ala1362Val)
c.5282C>T (p.Ala1761Val)
c.5279C>T (p.Ala1760Val)
c.5234C>T (p.Ala1745Val)
c.4358C>T (p.Ala1453Val)
c.4127C>T (p.Ala1376Val)
dbSNP gnomAD v4
10g.94298452T>ACA211599625PLCE1c.4317T>A (p.Ala1439=)
c.*1784T>A (n.*1784T>A)
n.1976T>A
n.660T>A
c.*525T>A (n.*525T>A)
c.4269T>A (p.Ala1423=)
n.9449T>A
n.2914T>A
c.5109T>A (p.Ala1703=)
c.5193T>A (p.Ala1731=)
c.5241T>A (p.Ala1747=)
c.4215T>A (p.Ala1405=)
c.3796T>A
c.3357T>A (p.Ala1119=)
c.*1174T>A (n.*1174T>A)
c.4510T>A
c.4086T>A (p.Ala1362=)
c.5283T>A (p.Ala1761=)
c.5280T>A (p.Ala1760=)
c.5235T>A (p.Ala1745=)
c.4359T>A (p.Ala1453=)
c.4128T>A (p.Ala1376=)
dbSNP gnomAD v3 gnomAD v4
10g.94298452T>CCA470986462PLCE1c.4317T>C (p.Ala1439=)
c.*1784T>C (n.*1784T>C)
n.1976T>C
n.660T>C
c.*525T>C (n.*525T>C)
c.4269T>C (p.Ala1423=)
n.9449T>C
n.2914T>C
c.5109T>C (p.Ala1703=)
c.5193T>C (p.Ala1731=)
c.5241T>C (p.Ala1747=)
c.4215T>C (p.Ala1405=)
c.3796T>C
c.3357T>C (p.Ala1119=)
c.*1174T>C (n.*1174T>C)
c.4510T>C
c.4086T>C (p.Ala1362=)
c.5283T>C (p.Ala1761=)
c.5280T>C (p.Ala1760=)
c.5235T>C (p.Ala1745=)
c.4359T>C (p.Ala1453=)
c.4128T>C (p.Ala1376=)
10g.94298452T>GCA470986461PLCE1c.4317T>G (p.Ala1439=)
c.*1784T>G (n.*1784T>G)
n.1976T>G
n.660T>G
c.*525T>G (n.*525T>G)
c.4269T>G (p.Ala1423=)
n.9449T>G
n.2914T>G
c.5109T>G (p.Ala1703=)
c.5193T>G (p.Ala1731=)
c.5241T>G (p.Ala1747=)
c.4215T>G (p.Ala1405=)
c.3796T>G
c.3357T>G (p.Ala1119=)
c.*1174T>G (n.*1174T>G)
c.4510T>G
c.4086T>G (p.Ala1362=)
c.5283T>G (p.Ala1761=)
c.5280T>G (p.Ala1760=)
c.5235T>G (p.Ala1745=)
c.4359T>G (p.Ala1453=)
c.4128T>G (p.Ala1376=)
10g.94298452T=CA1928998401PLCE1c.4317T= (p.Ala1439=)
c.*1784T= (n.*1784T=)
n.1976T=
n.660T=
c.*525T= (n.*525T=)
c.4269T= (p.Ala1423=)
n.9449T=
n.2914T=
c.5109T= (p.Ala1703=)
c.5193T= (p.Ala1731=)
c.5241T= (p.Ala1747=)
c.4215T= (p.Ala1405=)
c.3796T=
c.3357T= (p.Ala1119=)
c.*1174T= (n.*1174T=)
c.4510T=
c.4086T= (p.Ala1362=)
c.5283T= (p.Ala1761=)
c.5280T= (p.Ala1760=)
c.5235T= (p.Ala1745=)
c.4359T= (p.Ala1453=)
c.4128T= (p.Ala1376=)
10g.94298453A>CCA377641803PLCE1c.4318A>C (p.Ile1440Leu)
c.*1785A>C (n.*1785A>C)
n.1977A>C
n.661A>C
c.*526A>C (n.*526A>C)
c.4270A>C (p.Ile1424Leu)
n.9450A>C
n.2915A>C
c.5110A>C (p.Ile1704Leu)
c.5194A>C (p.Ile1732Leu)
c.5242A>C (p.Ile1748Leu)
c.4216A>C (p.Ile1406Leu)
c.3797A>C
c.3358A>C (p.Ile1120Leu)
c.*1175A>C (n.*1175A>C)
c.4511A>C
c.4087A>C (p.Ile1363Leu)
c.5284A>C (p.Ile1762Leu)
c.5281A>C (p.Ile1761Leu)
c.5236A>C (p.Ile1746Leu)
c.4360A>C (p.Ile1454Leu)
c.4129A>C (p.Ile1377Leu)
10g.94298453A>GCA377641804PLCE1c.4318A>G (p.Ile1440Val)
c.*1785A>G (n.*1785A>G)
n.1977A>G
n.661A>G
c.*526A>G (n.*526A>G)
c.4270A>G (p.Ile1424Val)
n.9450A>G
n.2915A>G
c.5110A>G (p.Ile1704Val)
c.5194A>G (p.Ile1732Val)
c.5242A>G (p.Ile1748Val)
c.4216A>G (p.Ile1406Val)
c.3797A>G
c.3358A>G (p.Ile1120Val)
c.*1175A>G (n.*1175A>G)
c.4511A>G
c.4087A>G (p.Ile1363Val)
c.5284A>G (p.Ile1762Val)
c.5281A>G (p.Ile1761Val)
c.5236A>G (p.Ile1746Val)
c.4360A>G (p.Ile1454Val)
c.4129A>G (p.Ile1377Val)
gnomAD v4
10g.94298453A>TCA377641805PLCE1c.4318A>T (p.Ile1440Phe)
c.*1785A>T (n.*1785A>T)
n.1977A>T
n.661A>T
c.*526A>T (n.*526A>T)
c.4270A>T (p.Ile1424Phe)
n.9450A>T
n.2915A>T
c.5110A>T (p.Ile1704Phe)
c.5194A>T (p.Ile1732Phe)
c.5242A>T (p.Ile1748Phe)
c.4216A>T (p.Ile1406Phe)
c.3797A>T
c.3358A>T (p.Ile1120Phe)
c.*1175A>T (n.*1175A>T)
c.4511A>T
c.4087A>T (p.Ile1363Phe)
c.5284A>T (p.Ile1762Phe)
c.5281A>T (p.Ile1761Phe)
c.5236A>T (p.Ile1746Phe)
c.4360A>T (p.Ile1454Phe)
c.4129A>T (p.Ile1377Phe)
10g.94298454T>ACA377641806PLCE1c.4319T>A (p.Ile1440Asn)
c.*1786T>A (n.*1786T>A)
n.1978T>A
n.662T>A
c.*527T>A (n.*527T>A)
c.4271T>A (p.Ile1424Asn)
n.9451T>A
n.2916T>A
c.5111T>A (p.Ile1704Asn)
c.5195T>A (p.Ile1732Asn)
c.5243T>A (p.Ile1748Asn)
c.4217T>A (p.Ile1406Asn)
c.3798T>A
c.3359T>A (p.Ile1120Asn)
c.*1176T>A (n.*1176T>A)
c.4512T>A
c.4088T>A (p.Ile1363Asn)
c.5285T>A (p.Ile1762Asn)
c.5282T>A (p.Ile1761Asn)
c.5237T>A (p.Ile1746Asn)
c.4361T>A (p.Ile1454Asn)
c.4130T>A (p.Ile1377Asn)
gnomAD v4
10g.94298454T>CCA377641807PLCE1c.4319T>C (p.Ile1440Thr)
c.*1786T>C (n.*1786T>C)
n.1978T>C
n.662T>C
c.*527T>C (n.*527T>C)
c.4271T>C (p.Ile1424Thr)
n.9451T>C
n.2916T>C
c.5111T>C (p.Ile1704Thr)
c.5195T>C (p.Ile1732Thr)
c.5243T>C (p.Ile1748Thr)
c.4217T>C (p.Ile1406Thr)
c.3798T>C
c.3359T>C (p.Ile1120Thr)
c.*1176T>C (n.*1176T>C)
c.4512T>C
c.4088T>C (p.Ile1363Thr)
c.5285T>C (p.Ile1762Thr)
c.5282T>C (p.Ile1761Thr)
c.5237T>C (p.Ile1746Thr)
c.4361T>C (p.Ile1454Thr)
c.4130T>C (p.Ile1377Thr)
10g.94298454T>GCA377641808PLCE1c.4319T>G (p.Ile1440Ser)
c.*1786T>G (n.*1786T>G)
n.1978T>G
n.662T>G
c.*527T>G (n.*527T>G)
c.4271T>G (p.Ile1424Ser)
n.9451T>G
n.2916T>G
c.5111T>G (p.Ile1704Ser)
c.5195T>G (p.Ile1732Ser)
c.5243T>G (p.Ile1748Ser)
c.4217T>G (p.Ile1406Ser)
c.3798T>G
c.3359T>G (p.Ile1120Ser)
c.*1176T>G (n.*1176T>G)
c.4512T>G
c.4088T>G (p.Ile1363Ser)
c.5285T>G (p.Ile1762Ser)
c.5282T>G (p.Ile1761Ser)
c.5237T>G (p.Ile1746Ser)
c.4361T>G (p.Ile1454Ser)
c.4130T>G (p.Ile1377Ser)
dbSNP gnomAD v2 gnomAD v4
10g.94298454T=CA1928998402PLCE1c.4319T= (p.Ile1440=)
c.*1786T= (n.*1786T=)
n.1978T=
n.662T=
c.*527T= (n.*527T=)
c.4271T= (p.Ile1424=)
n.9451T=
n.2916T=
c.5111T= (p.Ile1704=)
c.5195T= (p.Ile1732=)
c.5243T= (p.Ile1748=)
c.4217T= (p.Ile1406=)
c.3798T=
c.3359T= (p.Ile1120=)
c.*1176T= (n.*1176T=)
c.4512T=
c.4088T= (p.Ile1363=)
c.5285T= (p.Ile1762=)
c.5282T= (p.Ile1761=)
c.5237T= (p.Ile1746=)
c.4361T= (p.Ile1454=)
c.4130T= (p.Ile1377=)
10g.94298455C>ACA470986463PLCE1c.4320C>A (p.Ile1440=)
c.*1787C>A (n.*1787C>A)
n.1979C>A
n.663C>A
c.*528C>A (n.*528C>A)
c.4272C>A (p.Ile1424=)
n.9452C>A
n.2917C>A
c.5112C>A (p.Ile1704=)
c.5196C>A (p.Ile1732=)
c.5244C>A (p.Ile1748=)
c.4218C>A (p.Ile1406=)
c.3799C>A
c.3360C>A (p.Ile1120=)
c.*1177C>A (n.*1177C>A)
c.4513C>A
c.4089C>A (p.Ile1363=)
c.5286C>A (p.Ile1762=)
c.5283C>A (p.Ile1761=)
c.5238C>A (p.Ile1746=)
c.4362C>A (p.Ile1454=)
c.4131C>A (p.Ile1377=)
10g.94298455C>GCA377641809PLCE1c.4320C>G (p.Ile1440Met)
c.*1787C>G (n.*1787C>G)
n.1979C>G
n.663C>G
c.*528C>G (n.*528C>G)
c.4272C>G (p.Ile1424Met)
n.9452C>G
n.2917C>G
c.5112C>G (p.Ile1704Met)
c.5196C>G (p.Ile1732Met)
c.5244C>G (p.Ile1748Met)
c.4218C>G (p.Ile1406Met)
c.3799C>G
c.3360C>G (p.Ile1120Met)
c.*1177C>G (n.*1177C>G)
c.4513C>G
c.4089C>G (p.Ile1363Met)
c.5286C>G (p.Ile1762Met)
c.5283C>G (p.Ile1761Met)
c.5238C>G (p.Ile1746Met)
c.4362C>G (p.Ile1454Met)
c.4131C>G (p.Ile1377Met)
10g.94298455C>TCA470986464PLCE1c.4320C>T (p.Ile1440=)
c.*1787C>T (n.*1787C>T)
n.1979C>T
n.663C>T
c.*528C>T (n.*528C>T)
c.4272C>T (p.Ile1424=)
n.9452C>T
n.2917C>T
c.5112C>T (p.Ile1704=)
c.5196C>T (p.Ile1732=)
c.5244C>T (p.Ile1748=)
c.4218C>T (p.Ile1406=)
c.3799C>T
c.3360C>T (p.Ile1120=)
c.*1177C>T (n.*1177C>T)
c.4513C>T
c.4089C>T (p.Ile1363=)
c.5286C>T (p.Ile1762=)
c.5283C>T (p.Ile1761=)
c.5238C>T (p.Ile1746=)
c.4362C>T (p.Ile1454=)
c.4131C>T (p.Ile1377=)
10g.94298456A>CCA377641810PLCE1c.4321A>C (p.Ile1441Leu)
c.*1788A>C (n.*1788A>C)
n.1980A>C
n.664A>C
c.*529A>C (n.*529A>C)
c.4273A>C (p.Ile1425Leu)
n.9453A>C
n.2918A>C
c.5113A>C (p.Ile1705Leu)
c.5197A>C (p.Ile1733Leu)
c.5245A>C (p.Ile1749Leu)
c.4219A>C (p.Ile1407Leu)
c.3800A>C
c.3361A>C (p.Ile1121Leu)
c.*1178A>C (n.*1178A>C)
c.4514A>C
c.4090A>C (p.Ile1364Leu)
c.5287A>C (p.Ile1763Leu)
c.5284A>C (p.Ile1762Leu)
c.5239A>C (p.Ile1747Leu)
c.4363A>C (p.Ile1455Leu)
c.4132A>C (p.Ile1378Leu)
10g.94298456A>GCA377641811PLCE1c.4321A>G (p.Ile1441Val)
c.*1788A>G (n.*1788A>G)
n.1980A>G
n.664A>G
c.*529A>G (n.*529A>G)
c.4273A>G (p.Ile1425Val)
n.9453A>G
n.2918A>G
c.5113A>G (p.Ile1705Val)
c.5197A>G (p.Ile1733Val)
c.5245A>G (p.Ile1749Val)
c.4219A>G (p.Ile1407Val)
c.3800A>G
c.3361A>G (p.Ile1121Val)
c.*1178A>G (n.*1178A>G)
c.4514A>G
c.4090A>G (p.Ile1364Val)
c.5287A>G (p.Ile1763Val)
c.5284A>G (p.Ile1762Val)
c.5239A>G (p.Ile1747Val)
c.4363A>G (p.Ile1455Val)
c.4132A>G (p.Ile1378Val)
10g.94298456A>TCA377641812PLCE1c.4321A>T (p.Ile1441Phe)
c.*1788A>T (n.*1788A>T)
n.1980A>T
n.664A>T
c.*529A>T (n.*529A>T)
c.4273A>T (p.Ile1425Phe)
n.9453A>T
n.2918A>T
c.5113A>T (p.Ile1705Phe)
c.5197A>T (p.Ile1733Phe)
c.5245A>T (p.Ile1749Phe)
c.4219A>T (p.Ile1407Phe)
c.3800A>T
c.3361A>T (p.Ile1121Phe)
c.*1178A>T (n.*1178A>T)
c.4514A>T
c.4090A>T (p.Ile1364Phe)
c.5287A>T (p.Ile1763Phe)
c.5284A>T (p.Ile1762Phe)
c.5239A>T (p.Ile1747Phe)
c.4363A>T (p.Ile1455Phe)
c.4132A>T (p.Ile1378Phe)
10g.94298457T>ACA377641813PLCE1c.4322T>A (p.Ile1441Asn)
c.*1789T>A (n.*1789T>A)
n.1981T>A
n.665T>A
c.*530T>A (n.*530T>A)
c.4274T>A (p.Ile1425Asn)
n.9454T>A
n.2919T>A
c.5114T>A (p.Ile1705Asn)
c.5198T>A (p.Ile1733Asn)
c.5246T>A (p.Ile1749Asn)
c.4220T>A (p.Ile1407Asn)
c.3801T>A
c.3362T>A (p.Ile1121Asn)
c.*1179T>A (n.*1179T>A)
c.4515T>A
c.4091T>A (p.Ile1364Asn)
c.5288T>A (p.Ile1763Asn)
c.5285T>A (p.Ile1762Asn)
c.5240T>A (p.Ile1747Asn)
c.4364T>A (p.Ile1455Asn)
c.4133T>A (p.Ile1378Asn)
10g.94298457T>CCA377641814PLCE1c.4322T>C (p.Ile1441Thr)
c.*1789T>C (n.*1789T>C)
n.1981T>C
n.665T>C
c.*530T>C (n.*530T>C)
c.4274T>C (p.Ile1425Thr)
n.9454T>C
n.2919T>C
c.5114T>C (p.Ile1705Thr)
c.5198T>C (p.Ile1733Thr)
c.5246T>C (p.Ile1749Thr)
c.4220T>C (p.Ile1407Thr)
c.3801T>C
c.3362T>C (p.Ile1121Thr)
c.*1179T>C (n.*1179T>C)
c.4515T>C
c.4091T>C (p.Ile1364Thr)
c.5288T>C (p.Ile1763Thr)
c.5285T>C (p.Ile1762Thr)
c.5240T>C (p.Ile1747Thr)
c.4364T>C (p.Ile1455Thr)
c.4133T>C (p.Ile1378Thr)
10g.94298457T>GCA377641815PLCE1c.4322T>G (p.Ile1441Ser)
c.*1789T>G (n.*1789T>G)
n.1981T>G
n.665T>G
c.*530T>G (n.*530T>G)
c.4274T>G (p.Ile1425Ser)
n.9454T>G
n.2919T>G
c.5114T>G (p.Ile1705Ser)
c.5198T>G (p.Ile1733Ser)
c.5246T>G (p.Ile1749Ser)
c.4220T>G (p.Ile1407Ser)
c.3801T>G
c.3362T>G (p.Ile1121Ser)
c.*1179T>G (n.*1179T>G)
c.4515T>G
c.4091T>G (p.Ile1364Ser)
c.5288T>G (p.Ile1763Ser)
c.5285T>G (p.Ile1762Ser)
c.5240T>G (p.Ile1747Ser)
c.4364T>G (p.Ile1455Ser)
c.4133T>G (p.Ile1378Ser)
10g.94298458T>ACA470986465PLCE1c.4323T>A (p.Ile1441=)
c.*1790T>A (n.*1790T>A)
n.1982T>A
n.666T>A
c.*531T>A (n.*531T>A)
c.4275T>A (p.Ile1425=)
n.9455T>A
n.2920T>A
c.5115T>A (p.Ile1705=)
c.5199T>A (p.Ile1733=)
c.5247T>A (p.Ile1749=)
c.4221T>A (p.Ile1407=)
c.3802T>A
c.3363T>A (p.Ile1121=)
c.*1180T>A (n.*1180T>A)
c.4516T>A
c.4092T>A (p.Ile1364=)
c.5289T>A (p.Ile1763=)
c.5286T>A (p.Ile1762=)
c.5241T>A (p.Ile1747=)
c.4365T>A (p.Ile1455=)
c.4134T>A (p.Ile1378=)
10g.94298458T>CCA470986466PLCE1c.4323T>C (p.Ile1441=)
c.*1790T>C (n.*1790T>C)
n.1982T>C
n.666T>C
c.*531T>C (n.*531T>C)
c.4275T>C (p.Ile1425=)
n.9455T>C
n.2920T>C
c.5115T>C (p.Ile1705=)
c.5199T>C (p.Ile1733=)
c.5247T>C (p.Ile1749=)
c.4221T>C (p.Ile1407=)
c.3802T>C
c.3363T>C (p.Ile1121=)
c.*1180T>C (n.*1180T>C)
c.4516T>C
c.4092T>C (p.Ile1364=)
c.5289T>C (p.Ile1763=)
c.5286T>C (p.Ile1762=)
c.5241T>C (p.Ile1747=)
c.4365T>C (p.Ile1455=)
c.4134T>C (p.Ile1378=)
10g.94298458T>GCA377641816PLCE1c.4323T>G (p.Ile1441Met)
c.*1790T>G (n.*1790T>G)
n.1982T>G
n.666T>G
c.*531T>G (n.*531T>G)
c.4275T>G (p.Ile1425Met)
n.9455T>G
n.2920T>G
c.5115T>G (p.Ile1705Met)
c.5199T>G (p.Ile1733Met)
c.5247T>G (p.Ile1749Met)
c.4221T>G (p.Ile1407Met)
c.3802T>G
c.3363T>G (p.Ile1121Met)
c.*1180T>G (n.*1180T>G)
c.4516T>G
c.4092T>G (p.Ile1364Met)
c.5289T>G (p.Ile1763Met)
c.5286T>G (p.Ile1762Met)
c.5241T>G (p.Ile1747Met)
c.4365T>G (p.Ile1455Met)
c.4134T>G (p.Ile1378Met)
10g.94298459A>CCA470986467PLCE1c.4324A>C (p.Arg1442=)
c.*1791A>C (n.*1791A>C)
n.1983A>C
n.667A>C
c.*532A>C (n.*532A>C)
c.4276A>C (p.Arg1426=)
n.9456A>C
n.2921A>C
c.5116A>C (p.Arg1706=)
c.5200A>C (p.Arg1734=)
c.5248A>C (p.Arg1750=)
c.4222A>C (p.Arg1408=)
c.3803A>C
c.3364A>C (p.Arg1122=)
c.*1181A>C (n.*1181A>C)
c.4517A>C
c.4093A>C (p.Arg1365=)
c.5290A>C (p.Arg1764=)
c.5287A>C (p.Arg1763=)
c.5242A>C (p.Arg1748=)
c.4366A>C (p.Arg1456=)
c.4135A>C (p.Arg1379=)
10g.94298459A>GCA377641817PLCE1c.4324A>G (p.Arg1442Gly)
c.*1791A>G (n.*1791A>G)
n.1983A>G
n.667A>G
c.*532A>G (n.*532A>G)
c.4276A>G (p.Arg1426Gly)
n.9456A>G
n.2921A>G
c.5116A>G (p.Arg1706Gly)
c.5200A>G (p.Arg1734Gly)
c.5248A>G (p.Arg1750Gly)
c.4222A>G (p.Arg1408Gly)
c.3803A>G
c.3364A>G (p.Arg1122Gly)
c.*1181A>G (n.*1181A>G)
c.4517A>G
c.4093A>G (p.Arg1365Gly)
c.5290A>G (p.Arg1764Gly)
c.5287A>G (p.Arg1763Gly)
c.5242A>G (p.Arg1748Gly)
c.4366A>G (p.Arg1456Gly)
c.4135A>G (p.Arg1379Gly)
10g.94298459A>TCA377641818PLCE1c.4324A>T (p.Arg1442Ter)
c.*1791A>T (n.*1791A>T)
n.1983A>T
n.667A>T
c.*532A>T (n.*532A>T)
c.4276A>T (p.Arg1426Ter)
n.9456A>T
n.2921A>T
c.5116A>T (p.Arg1706Ter)
c.5200A>T (p.Arg1734Ter)
c.5248A>T (p.Arg1750Ter)
c.4222A>T (p.Arg1408Ter)
c.3803A>T
c.3364A>T (p.Arg1122Ter)
c.*1181A>T (n.*1181A>T)
c.4517A>T
c.4093A>T (p.Arg1365Ter)
c.5290A>T (p.Arg1764Ter)
c.5287A>T (p.Arg1763Ter)
c.5242A>T (p.Arg1748Ter)
c.4366A>T (p.Arg1456Ter)
c.4135A>T (p.Arg1379Ter)
10g.94298460G>ACA377641819PLCE1c.4325G>A (p.Arg1442Lys)
c.*1792G>A (n.*1792G>A)
n.1984G>A
n.668G>A
c.*533G>A (n.*533G>A)
c.4277G>A (p.Arg1426Lys)
n.9457G>A
n.2922G>A
c.5117G>A (p.Arg1706Lys)
c.5201G>A (p.Arg1734Lys)
c.5249G>A (p.Arg1750Lys)
c.4223G>A (p.Arg1408Lys)
c.3804G>A
c.3365G>A (p.Arg1122Lys)
c.*1182G>A (n.*1182G>A)
c.4518G>A
c.4094G>A (p.Arg1365Lys)
c.5291G>A (p.Arg1764Lys)
c.5288G>A (p.Arg1763Lys)
c.5243G>A (p.Arg1748Lys)
c.4367G>A (p.Arg1456Lys)
c.4136G>A (p.Arg1379Lys)
10g.94298460G>CCA377641820PLCE1c.4325G>C (p.Arg1442Thr)
c.*1792G>C (n.*1792G>C)
n.1984G>C
n.668G>C
c.*533G>C (n.*533G>C)
c.4277G>C (p.Arg1426Thr)
n.9457G>C
n.2922G>C
c.5117G>C (p.Arg1706Thr)
c.5201G>C (p.Arg1734Thr)
c.5249G>C (p.Arg1750Thr)
c.4223G>C (p.Arg1408Thr)
c.3804G>C
c.3365G>C (p.Arg1122Thr)
c.*1182G>C (n.*1182G>C)
c.4518G>C
c.4094G>C (p.Arg1365Thr)
c.5291G>C (p.Arg1764Thr)
c.5288G>C (p.Arg1763Thr)
c.5243G>C (p.Arg1748Thr)
c.4367G>C (p.Arg1456Thr)
c.4136G>C (p.Arg1379Thr)
10g.94298460G>TCA377641821PLCE1c.4325G>T (p.Arg1442Ile)
c.*1792G>T (n.*1792G>T)
n.1984G>T
n.668G>T
c.*533G>T (n.*533G>T)
c.4277G>T (p.Arg1426Ile)
n.9457G>T
n.2922G>T
c.5117G>T (p.Arg1706Ile)
c.5201G>T (p.Arg1734Ile)
c.5249G>T (p.Arg1750Ile)
c.4223G>T (p.Arg1408Ile)
c.3804G>T
c.3365G>T (p.Arg1122Ile)
c.*1182G>T (n.*1182G>T)
c.4518G>T
c.4094G>T (p.Arg1365Ile)
c.5291G>T (p.Arg1764Ile)
c.5288G>T (p.Arg1763Ile)
c.5243G>T (p.Arg1748Ile)
c.4367G>T (p.Arg1456Ile)
c.4136G>T (p.Arg1379Ile)
10g.94298461A>CCA377641822PLCE1c.4326A>C (p.Arg1442Ser)
c.*1793A>C (n.*1793A>C)
n.1985A>C
n.669A>C
c.*534A>C (n.*534A>C)
c.4278A>C (p.Arg1426Ser)
n.9458A>C
n.2923A>C
c.5118A>C (p.Arg1706Ser)
c.5202A>C (p.Arg1734Ser)
c.5250A>C (p.Arg1750Ser)
c.4224A>C (p.Arg1408Ser)
c.3805A>C
c.3366A>C (p.Arg1122Ser)
c.*1183A>C (n.*1183A>C)
c.4519A>C
c.4095A>C (p.Arg1365Ser)
c.5292A>C (p.Arg1764Ser)
c.5289A>C (p.Arg1763Ser)
c.5244A>C (p.Arg1748Ser)
c.4368A>C (p.Arg1456Ser)
c.4137A>C (p.Arg1379Ser)
10g.94298461A>GCA470986468PLCE1c.4326A>G (p.Arg1442=)
c.*1793A>G (n.*1793A>G)
n.1985A>G
n.669A>G
c.*534A>G (n.*534A>G)
c.4278A>G (p.Arg1426=)
n.9458A>G
n.2923A>G
c.5118A>G (p.Arg1706=)
c.5202A>G (p.Arg1734=)
c.5250A>G (p.Arg1750=)
c.4224A>G (p.Arg1408=)
c.3805A>G
c.3366A>G (p.Arg1122=)
c.*1183A>G (n.*1183A>G)
c.4519A>G
c.4095A>G (p.Arg1365=)
c.5292A>G (p.Arg1764=)
c.5289A>G (p.Arg1763=)
c.5244A>G (p.Arg1748=)
c.4368A>G (p.Arg1456=)
c.4137A>G (p.Arg1379=)
10g.94298461A>TCA377641823PLCE1c.4326A>T (p.Arg1442Ser)
c.*1793A>T (n.*1793A>T)
n.1985A>T
n.669A>T
c.*534A>T (n.*534A>T)
c.4278A>T (p.Arg1426Ser)
n.9458A>T
n.2923A>T
c.5118A>T (p.Arg1706Ser)
c.5202A>T (p.Arg1734Ser)
c.5250A>T (p.Arg1750Ser)
c.4224A>T (p.Arg1408Ser)
c.3805A>T
c.3366A>T (p.Arg1122Ser)
c.*1183A>T (n.*1183A>T)
c.4519A>T
c.4095A>T (p.Arg1365Ser)
c.5292A>T (p.Arg1764Ser)
c.5289A>T (p.Arg1763Ser)
c.5244A>T (p.Arg1748Ser)
c.4368A>T (p.Arg1456Ser)
c.4137A>T (p.Arg1379Ser)
10g.94298462A>CCA377641826PLCE1c.4327A>C (p.Thr1443Pro)
c.*1794A>C (n.*1794A>C)
n.1986A>C
n.670A>C
c.*535A>C (n.*535A>C)
c.4279A>C (p.Thr1427Pro)
n.9459A>C
n.2924A>C
c.5119A>C (p.Thr1707Pro)
c.5203A>C (p.Thr1735Pro)
c.5251A>C (p.Thr1751Pro)
c.4225A>C (p.Thr1409Pro)
c.3806A>C
c.3367A>C (p.Thr1123Pro)
c.*1184A>C (n.*1184A>C)
c.4520A>C
c.4096A>C (p.Thr1366Pro)
c.5293A>C (p.Thr1765Pro)
c.5290A>C (p.Thr1764Pro)
c.5245A>C (p.Thr1749Pro)
c.4369A>C (p.Thr1457Pro)
c.4138A>C (p.Thr1380Pro)
10g.94298462A>GCA377641825PLCE1c.4327A>G (p.Thr1443Ala)
c.*1794A>G (n.*1794A>G)
n.1986A>G
n.670A>G
c.*535A>G (n.*535A>G)
c.4279A>G (p.Thr1427Ala)
n.9459A>G
n.2924A>G
c.5119A>G (p.Thr1707Ala)
c.5203A>G (p.Thr1735Ala)
c.5251A>G (p.Thr1751Ala)
c.4225A>G (p.Thr1409Ala)
c.3806A>G
c.3367A>G (p.Thr1123Ala)
c.*1184A>G (n.*1184A>G)
c.4520A>G
c.4096A>G (p.Thr1366Ala)
c.5293A>G (p.Thr1765Ala)
c.5290A>G (p.Thr1764Ala)
c.5245A>G (p.Thr1749Ala)
c.4369A>G (p.Thr1457Ala)
c.4138A>G (p.Thr1380Ala)
10g.94298462A>TCA377641824PLCE1c.4327A>T (p.Thr1443Ser)
c.*1794A>T (n.*1794A>T)
n.1986A>T
n.670A>T
c.*535A>T (n.*535A>T)
c.4279A>T (p.Thr1427Ser)
n.9459A>T
n.2924A>T
c.5119A>T (p.Thr1707Ser)
c.5203A>T (p.Thr1735Ser)
c.5251A>T (p.Thr1751Ser)
c.4225A>T (p.Thr1409Ser)
c.3806A>T
c.3367A>T (p.Thr1123Ser)
c.*1184A>T (n.*1184A>T)
c.4520A>T
c.4096A>T (p.Thr1366Ser)
c.5293A>T (p.Thr1765Ser)
c.5290A>T (p.Thr1764Ser)
c.5245A>T (p.Thr1749Ser)
c.4369A>T (p.Thr1457Ser)
c.4138A>T (p.Thr1380Ser)
10g.94298463C>ACA377641827PLCE1c.4328C>A (p.Thr1443Asn)
c.*1795C>A (n.*1795C>A)
n.1987C>A
n.671C>A
c.*536C>A (n.*536C>A)
c.4280C>A (p.Thr1427Asn)
n.9460C>A
n.2925C>A
c.5120C>A (p.Thr1707Asn)
c.5204C>A (p.Thr1735Asn)
c.5252C>A (p.Thr1751Asn)
c.4226C>A (p.Thr1409Asn)
c.3807C>A
c.3368C>A (p.Thr1123Asn)
c.*1185C>A (n.*1185C>A)
c.4521C>A
c.4097C>A (p.Thr1366Asn)
c.5294C>A (p.Thr1765Asn)
c.5291C>A (p.Thr1764Asn)
c.5246C>A (p.Thr1749Asn)
c.4370C>A (p.Thr1457Asn)
c.4139C>A (p.Thr1380Asn)
10g.94298463C=CA1928998403PLCE1c.4328C= (p.Thr1443=)
c.*1795C= (n.*1795C=)
n.1987C=
n.671C=
c.*536C= (n.*536C=)
c.4280C= (p.Thr1427=)
n.9460C=
n.2925C=
c.5120C= (p.Thr1707=)
c.5204C= (p.Thr1735=)
c.5252C= (p.Thr1751=)
c.4226C= (p.Thr1409=)
c.3807C=
c.3368C= (p.Thr1123=)
c.*1185C= (n.*1185C=)
c.4521C=
c.4097C= (p.Thr1366=)
c.5294C= (p.Thr1765=)
c.5291C= (p.Thr1764=)
c.5246C= (p.Thr1749=)
c.4370C= (p.Thr1457=)
c.4139C= (p.Thr1380=)
10g.94298463C>GCA377641829PLCE1c.4328C>G (p.Thr1443Ser)
c.*1795C>G (n.*1795C>G)
n.1987C>G
n.671C>G
c.*536C>G (n.*536C>G)
c.4280C>G (p.Thr1427Ser)
n.9460C>G
n.2925C>G
c.5120C>G (p.Thr1707Ser)
c.5204C>G (p.Thr1735Ser)
c.5252C>G (p.Thr1751Ser)
c.4226C>G (p.Thr1409Ser)
c.3807C>G
c.3368C>G (p.Thr1123Ser)
c.*1185C>G (n.*1185C>G)
c.4521C>G
c.4097C>G (p.Thr1366Ser)
c.5294C>G (p.Thr1765Ser)
c.5291C>G (p.Thr1764Ser)
c.5246C>G (p.Thr1749Ser)
c.4370C>G (p.Thr1457Ser)
c.4139C>G (p.Thr1380Ser)
10g.94298463C>TCA377641828PLCE1c.4328C>T (p.Thr1443Ile)
c.*1795C>T (n.*1795C>T)
n.1987C>T
n.671C>T
c.*536C>T (n.*536C>T)
c.4280C>T (p.Thr1427Ile)
n.9460C>T
n.2925C>T
c.5120C>T (p.Thr1707Ile)
c.5204C>T (p.Thr1735Ile)
c.5252C>T (p.Thr1751Ile)
c.4226C>T (p.Thr1409Ile)
c.3807C>T
c.3368C>T (p.Thr1123Ile)
c.*1185C>T (n.*1185C>T)
c.4521C>T
c.4097C>T (p.Thr1366Ile)
c.5294C>T (p.Thr1765Ile)
c.5291C>T (p.Thr1764Ile)
c.5246C>T (p.Thr1749Ile)
c.4370C>T (p.Thr1457Ile)
c.4139C>T (p.Thr1380Ile)
dbSNP
10g.94298464T>ACA470986472PLCE1c.4329T>A (p.Thr1443=)
c.*1796T>A (n.*1796T>A)
n.1988T>A
n.672T>A
c.*537T>A (n.*537T>A)
c.4281T>A (p.Thr1427=)
n.9461T>A
n.2926T>A
c.5121T>A (p.Thr1707=)
c.5205T>A (p.Thr1735=)
c.5253T>A (p.Thr1751=)
c.4227T>A (p.Thr1409=)
c.3808T>A
c.3369T>A (p.Thr1123=)
c.*1186T>A (n.*1186T>A)
c.4522T>A
c.4098T>A (p.Thr1366=)
c.5295T>A (p.Thr1765=)
c.5292T>A (p.Thr1764=)
c.5247T>A (p.Thr1749=)
c.4371T>A (p.Thr1457=)
c.4140T>A (p.Thr1380=)
10g.94298464T>CCA470986473PLCE1c.4329T>C (p.Thr1443=)
c.*1796T>C (n.*1796T>C)
n.1988T>C
n.672T>C
c.*537T>C (n.*537T>C)
c.4281T>C (p.Thr1427=)
n.9461T>C
n.2926T>C
c.5121T>C (p.Thr1707=)
c.5205T>C (p.Thr1735=)
c.5253T>C (p.Thr1751=)
c.4227T>C (p.Thr1409=)
c.3808T>C
c.3369T>C (p.Thr1123=)
c.*1186T>C (n.*1186T>C)
c.4522T>C
c.4098T>C (p.Thr1366=)
c.5295T>C (p.Thr1765=)
c.5292T>C (p.Thr1764=)
c.5247T>C (p.Thr1749=)
c.4371T>C (p.Thr1457=)
c.4140T>C (p.Thr1380=)
dbSNP
10g.94298464T>GCA470986474PLCE1c.4329T>G (p.Thr1443=)
c.*1796T>G (n.*1796T>G)
n.1988T>G
n.672T>G
c.*537T>G (n.*537T>G)
c.4281T>G (p.Thr1427=)
n.9461T>G
n.2926T>G
c.5121T>G (p.Thr1707=)
c.5205T>G (p.Thr1735=)
c.5253T>G (p.Thr1751=)
c.4227T>G (p.Thr1409=)
c.3808T>G
c.3369T>G (p.Thr1123=)
c.*1186T>G (n.*1186T>G)
c.4522T>G
c.4098T>G (p.Thr1366=)
c.5295T>G (p.Thr1765=)
c.5292T>G (p.Thr1764=)
c.5247T>G (p.Thr1749=)
c.4371T>G (p.Thr1457=)
c.4140T>G (p.Thr1380=)
10g.94298464T=CA1928998404PLCE1c.4329T= (p.Thr1443=)
c.*1796T= (n.*1796T=)
n.1988T=
n.672T=
c.*537T= (n.*537T=)
c.4281T= (p.Thr1427=)
n.9461T=
n.2926T=
c.5121T= (p.Thr1707=)
c.5205T= (p.Thr1735=)
c.5253T= (p.Thr1751=)
c.4227T= (p.Thr1409=)
c.3808T=
c.3369T= (p.Thr1123=)
c.*1186T= (n.*1186T=)
c.4522T=
c.4098T= (p.Thr1366=)
c.5295T= (p.Thr1765=)
c.5292T= (p.Thr1764=)
c.5247T= (p.Thr1749=)
c.4371T= (p.Thr1457=)
c.4140T= (p.Thr1380=)
10g.94298465C>ACA377641830PLCE1c.4330C>A (p.Pro1444Thr)
c.*1797C>A (n.*1797C>A)
n.1989C>A
n.673C>A
c.*538C>A (n.*538C>A)
c.4282C>A (p.Pro1428Thr)
n.9462C>A
n.2927C>A
c.5122C>A (p.Pro1708Thr)
c.5206C>A (p.Pro1736Thr)
c.5254C>A (p.Pro1752Thr)
c.4228C>A (p.Pro1410Thr)
c.3809C>A
c.3370C>A (p.Pro1124Thr)
c.*1187C>A (n.*1187C>A)
c.4523C>A
c.4099C>A (p.Pro1367Thr)
c.5296C>A (p.Pro1766Thr)
c.5293C>A (p.Pro1765Thr)
c.5248C>A (p.Pro1750Thr)
c.4372C>A (p.Pro1458Thr)
c.4141C>A (p.Pro1381Thr)
10g.94298465C>GCA377641831PLCE1c.4330C>G (p.Pro1444Ala)
c.*1797C>G (n.*1797C>G)
n.1989C>G
n.673C>G
c.*538C>G (n.*538C>G)
c.4282C>G (p.Pro1428Ala)
n.9462C>G
n.2927C>G
c.5122C>G (p.Pro1708Ala)
c.5206C>G (p.Pro1736Ala)
c.5254C>G (p.Pro1752Ala)
c.4228C>G (p.Pro1410Ala)
c.3809C>G
c.3370C>G (p.Pro1124Ala)
c.*1187C>G (n.*1187C>G)
c.4523C>G
c.4099C>G (p.Pro1367Ala)
c.5296C>G (p.Pro1766Ala)
c.5293C>G (p.Pro1765Ala)
c.5248C>G (p.Pro1750Ala)
c.4372C>G (p.Pro1458Ala)
c.4141C>G (p.Pro1381Ala)
10g.94298465C>TCA377641832PLCE1c.4330C>T (p.Pro1444Ser)
c.*1797C>T (n.*1797C>T)
n.1989C>T
n.673C>T
c.*538C>T (n.*538C>T)
c.4282C>T (p.Pro1428Ser)
n.9462C>T
n.2927C>T
c.5122C>T (p.Pro1708Ser)
c.5206C>T (p.Pro1736Ser)
c.5254C>T (p.Pro1752Ser)
c.4228C>T (p.Pro1410Ser)
c.3809C>T
c.3370C>T (p.Pro1124Ser)
c.*1187C>T (n.*1187C>T)
c.4523C>T
c.4099C>T (p.Pro1367Ser)
c.5296C>T (p.Pro1766Ser)
c.5293C>T (p.Pro1765Ser)
c.5248C>T (p.Pro1750Ser)
c.4372C>T (p.Pro1458Ser)
c.4141C>T (p.Pro1381Ser)
10g.94298466C>ACA377641833PLCE1c.4331C>A (p.Pro1444His)
c.*1798C>A (n.*1798C>A)
n.1990C>A
n.674C>A
c.*539C>A (n.*539C>A)
c.4283C>A (p.Pro1428His)
n.9463C>A
n.2928C>A
c.5123C>A (p.Pro1708His)
c.5207C>A (p.Pro1736His)
c.5255C>A (p.Pro1752His)
c.4229C>A (p.Pro1410His)
c.3810C>A
c.3371C>A (p.Pro1124His)
c.*1188C>A (n.*1188C>A)
c.4524C>A
c.4100C>A (p.Pro1367His)
c.5297C>A (p.Pro1766His)
c.5294C>A (p.Pro1765His)
c.5249C>A (p.Pro1750His)
c.4373C>A (p.Pro1458His)
c.4142C>A (p.Pro1381His)
10g.94298466C>GCA377641834PLCE1c.4331C>G (p.Pro1444Arg)
c.*1798C>G (n.*1798C>G)
n.1990C>G
n.674C>G
c.*539C>G (n.*539C>G)
c.4283C>G (p.Pro1428Arg)
n.9463C>G
n.2928C>G
c.5123C>G (p.Pro1708Arg)
c.5207C>G (p.Pro1736Arg)
c.5255C>G (p.Pro1752Arg)
c.4229C>G (p.Pro1410Arg)
c.3810C>G
c.3371C>G (p.Pro1124Arg)
c.*1188C>G (n.*1188C>G)
c.4524C>G
c.4100C>G (p.Pro1367Arg)
c.5297C>G (p.Pro1766Arg)
c.5294C>G (p.Pro1765Arg)
c.5249C>G (p.Pro1750Arg)
c.4373C>G (p.Pro1458Arg)
c.4142C>G (p.Pro1381Arg)
10g.94298466C>TCA377641835PLCE1c.4331C>T (p.Pro1444Leu)
c.*1798C>T (n.*1798C>T)
n.1990C>T
n.674C>T
c.*539C>T (n.*539C>T)
c.4283C>T (p.Pro1428Leu)
n.9463C>T
n.2928C>T
c.5123C>T (p.Pro1708Leu)
c.5207C>T (p.Pro1736Leu)
c.5255C>T (p.Pro1752Leu)
c.4229C>T (p.Pro1410Leu)
c.3810C>T
c.3371C>T (p.Pro1124Leu)
c.*1188C>T (n.*1188C>T)
c.4524C>T
c.4100C>T (p.Pro1367Leu)
c.5297C>T (p.Pro1766Leu)
c.5294C>T (p.Pro1765Leu)
c.5249C>T (p.Pro1750Leu)
c.4373C>T (p.Pro1458Leu)
c.4142C>T (p.Pro1381Leu)
10g.94298467C>ACA470986475PLCE1c.4332C>A (p.Pro1444=)
c.*1799C>A (n.*1799C>A)
n.1991C>A
n.675C>A
c.*540C>A (n.*540C>A)
c.4284C>A (p.Pro1428=)
n.9464C>A
n.2929C>A
c.5124C>A (p.Pro1708=)
c.5208C>A (p.Pro1736=)
c.5256C>A (p.Pro1752=)
c.4230C>A (p.Pro1410=)
c.3811C>A
c.3372C>A (p.Pro1124=)
c.*1189C>A (n.*1189C>A)
c.4525C>A
c.4101C>A (p.Pro1367=)
c.5298C>A (p.Pro1766=)
c.5295C>A (p.Pro1765=)
c.5250C>A (p.Pro1750=)
c.4374C>A (p.Pro1458=)
c.4143C>A (p.Pro1381=)
10g.94298467C>GCA470986476PLCE1c.4332C>G (p.Pro1444=)
c.*1799C>G (n.*1799C>G)
n.1991C>G
n.675C>G
c.*540C>G (n.*540C>G)
c.4284C>G (p.Pro1428=)
n.9464C>G
n.2929C>G
c.5124C>G (p.Pro1708=)
c.5208C>G (p.Pro1736=)
c.5256C>G (p.Pro1752=)
c.4230C>G (p.Pro1410=)
c.3811C>G
c.3372C>G (p.Pro1124=)
c.*1189C>G (n.*1189C>G)
c.4525C>G
c.4101C>G (p.Pro1367=)
c.5298C>G (p.Pro1766=)
c.5295C>G (p.Pro1765=)
c.5250C>G (p.Pro1750=)
c.4374C>G (p.Pro1458=)
c.4143C>G (p.Pro1381=)
10g.94298467C>TCA470986477PLCE1c.4332C>T (p.Pro1444=)
c.*1799C>T (n.*1799C>T)
n.1991C>T
n.675C>T
c.*540C>T (n.*540C>T)
c.4284C>T (p.Pro1428=)
n.9464C>T
n.2929C>T
c.5124C>T (p.Pro1708=)
c.5208C>T (p.Pro1736=)
c.5256C>T (p.Pro1752=)
c.4230C>T (p.Pro1410=)
c.3811C>T
c.3372C>T (p.Pro1124=)
c.*1189C>T (n.*1189C>T)
c.4525C>T
c.4101C>T (p.Pro1367=)
c.5298C>T (p.Pro1766=)
c.5295C>T (p.Pro1765=)
c.5250C>T (p.Pro1750=)
c.4374C>T (p.Pro1458=)
c.4143C>T (p.Pro1381=)
10g.94298468A>CCA377641838PLCE1c.4333A>C (p.Lys1445Gln)
c.*1800A>C (n.*1800A>C)
n.1992A>C
n.676A>C
c.*541A>C (n.*541A>C)
c.4285A>C (p.Lys1429Gln)
n.9465A>C
n.2930A>C
c.5125A>C (p.Lys1709Gln)
c.5209A>C (p.Lys1737Gln)
c.5257A>C (p.Lys1753Gln)
c.4231A>C (p.Lys1411Gln)
c.3812A>C
c.3373A>C (p.Lys1125Gln)
c.*1190A>C (n.*1190A>C)
c.4526A>C
c.4102A>C (p.Lys1368Gln)
c.5299A>C (p.Lys1767Gln)
c.5296A>C (p.Lys1766Gln)
c.5251A>C (p.Lys1751Gln)
c.4375A>C (p.Lys1459Gln)
c.4144A>C (p.Lys1382Gln)
10g.94298468A>GCA377641836PLCE1c.4333A>G (p.Lys1445Glu)
c.*1800A>G (n.*1800A>G)
n.1992A>G
n.676A>G
c.*541A>G (n.*541A>G)
c.4285A>G (p.Lys1429Glu)
n.9465A>G
n.2930A>G
c.5125A>G (p.Lys1709Glu)
c.5209A>G (p.Lys1737Glu)
c.5257A>G (p.Lys1753Glu)
c.4231A>G (p.Lys1411Glu)
c.3812A>G
c.3373A>G (p.Lys1125Glu)
c.*1190A>G (n.*1190A>G)
c.4526A>G
c.4102A>G (p.Lys1368Glu)
c.5299A>G (p.Lys1767Glu)
c.5296A>G (p.Lys1766Glu)
c.5251A>G (p.Lys1751Glu)
c.4375A>G (p.Lys1459Glu)
c.4144A>G (p.Lys1382Glu)
10g.94298468A>TCA377641837PLCE1c.4333A>T (p.Lys1445Ter)
c.*1800A>T (n.*1800A>T)
n.1992A>T
n.676A>T
c.*541A>T (n.*541A>T)
c.4285A>T (p.Lys1429Ter)
n.9465A>T
n.2930A>T
c.5125A>T (p.Lys1709Ter)
c.5209A>T (p.Lys1737Ter)
c.5257A>T (p.Lys1753Ter)
c.4231A>T (p.Lys1411Ter)
c.3812A>T
c.3373A>T (p.Lys1125Ter)
c.*1190A>T (n.*1190A>T)
c.4526A>T
c.4102A>T (p.Lys1368Ter)
c.5299A>T (p.Lys1767Ter)
c.5296A>T (p.Lys1766Ter)
c.5251A>T (p.Lys1751Ter)
c.4375A>T (p.Lys1459Ter)
c.4144A>T (p.Lys1382Ter)
10g.94298469A=CA1928998405PLCE1c.4334A= (p.Lys1445=)
c.*1801A= (n.*1801A=)
n.1993A=
n.677A=
c.*542A= (n.*542A=)
c.4286A= (p.Lys1429=)
n.9466A=
n.2931A=
c.5126A= (p.Lys1709=)
c.5210A= (p.Lys1737=)
c.5258A= (p.Lys1753=)
c.4232A= (p.Lys1411=)
c.3813A=
c.3374A= (p.Lys1125=)
c.*1191A= (n.*1191A=)
c.4527A=
c.4103A= (p.Lys1368=)
c.5300A= (p.Lys1767=)
c.5297A= (p.Lys1766=)
c.5252A= (p.Lys1751=)
c.4376A= (p.Lys1459=)
c.4145A= (p.Lys1382=)
10g.94298469A>CCA377641839PLCE1c.4334A>C (p.Lys1445Thr)
c.*1801A>C (n.*1801A>C)
n.1993A>C
n.677A>C
c.*542A>C (n.*542A>C)
c.4286A>C (p.Lys1429Thr)
n.9466A>C
n.2931A>C
c.5126A>C (p.Lys1709Thr)
c.5210A>C (p.Lys1737Thr)
c.5258A>C (p.Lys1753Thr)
c.4232A>C (p.Lys1411Thr)
c.3813A>C
c.3374A>C (p.Lys1125Thr)
c.*1191A>C (n.*1191A>C)
c.4527A>C
c.4103A>C (p.Lys1368Thr)
c.5300A>C (p.Lys1767Thr)
c.5297A>C (p.Lys1766Thr)
c.5252A>C (p.Lys1751Thr)
c.4376A>C (p.Lys1459Thr)
c.4145A>C (p.Lys1382Thr)
10g.94298469A>GCA377641840PLCE1c.4334A>G (p.Lys1445Arg)
c.*1801A>G (n.*1801A>G)
n.1993A>G
n.677A>G
c.*542A>G (n.*542A>G)
c.4286A>G (p.Lys1429Arg)
n.9466A>G
n.2931A>G
c.5126A>G (p.Lys1709Arg)
c.5210A>G (p.Lys1737Arg)
c.5258A>G (p.Lys1753Arg)
c.4232A>G (p.Lys1411Arg)
c.3813A>G
c.3374A>G (p.Lys1125Arg)
c.*1191A>G (n.*1191A>G)
c.4527A>G
c.4103A>G (p.Lys1368Arg)
c.5300A>G (p.Lys1767Arg)
c.5297A>G (p.Lys1766Arg)
c.5252A>G (p.Lys1751Arg)
c.4376A>G (p.Lys1459Arg)
c.4145A>G (p.Lys1382Arg)
dbSNP COSMIC COSMIC
10g.94298469A>TCA377641841PLCE1c.4334A>T (p.Lys1445Ile)
c.*1801A>T (n.*1801A>T)
n.1993A>T
n.677A>T
c.*542A>T (n.*542A>T)
c.4286A>T (p.Lys1429Ile)
n.9466A>T
n.2931A>T
c.5126A>T (p.Lys1709Ile)
c.5210A>T (p.Lys1737Ile)
c.5258A>T (p.Lys1753Ile)
c.4232A>T (p.Lys1411Ile)
c.3813A>T
c.3374A>T (p.Lys1125Ile)
c.*1191A>T (n.*1191A>T)
c.4527A>T
c.4103A>T (p.Lys1368Ile)
c.5300A>T (p.Lys1767Ile)
c.5297A>T (p.Lys1766Ile)
c.5252A>T (p.Lys1751Ile)
c.4376A>T (p.Lys1459Ile)
c.4145A>T (p.Lys1382Ile)
10g.94298470A>CCA377641842PLCE1c.4335A>C (p.Lys1445Asn)
c.*1802A>C (n.*1802A>C)
n.1994A>C
n.678A>C
c.*543A>C (n.*543A>C)
c.4287A>C (p.Lys1429Asn)
n.9467A>C
n.2932A>C
c.5127A>C (p.Lys1709Asn)
c.5211A>C (p.Lys1737Asn)
c.5259A>C (p.Lys1753Asn)
c.4233A>C (p.Lys1411Asn)
c.3814A>C
c.3375A>C (p.Lys1125Asn)
c.*1192A>C (n.*1192A>C)
c.4528A>C
c.4104A>C (p.Lys1368Asn)
c.5301A>C (p.Lys1767Asn)
c.5298A>C (p.Lys1766Asn)
c.5253A>C (p.Lys1751Asn)
c.4377A>C (p.Lys1459Asn)
c.4146A>C (p.Lys1382Asn)
10g.94298470A>GCA470986479PLCE1c.4335A>G (p.Lys1445=)
c.*1802A>G (n.*1802A>G)
n.1994A>G
n.678A>G
c.*543A>G (n.*543A>G)
c.4287A>G (p.Lys1429=)
n.9467A>G
n.2932A>G
c.5127A>G (p.Lys1709=)
c.5211A>G (p.Lys1737=)
c.5259A>G (p.Lys1753=)
c.4233A>G (p.Lys1411=)
c.3814A>G
c.3375A>G (p.Lys1125=)
c.*1192A>G (n.*1192A>G)
c.4528A>G
c.4104A>G (p.Lys1368=)
c.5301A>G (p.Lys1767=)
c.5298A>G (p.Lys1766=)
c.5253A>G (p.Lys1751=)
c.4377A>G (p.Lys1459=)
c.4146A>G (p.Lys1382=)
10g.94298470A>TCA377641843PLCE1c.4335A>T (p.Lys1445Asn)
c.*1802A>T (n.*1802A>T)
n.1994A>T
n.678A>T
c.*543A>T (n.*543A>T)
c.4287A>T (p.Lys1429Asn)
n.9467A>T
n.2932A>T
c.5127A>T (p.Lys1709Asn)
c.5211A>T (p.Lys1737Asn)
c.5259A>T (p.Lys1753Asn)
c.4233A>T (p.Lys1411Asn)
c.3814A>T
c.3375A>T (p.Lys1125Asn)
c.*1192A>T (n.*1192A>T)
c.4528A>T
c.4104A>T (p.Lys1368Asn)
c.5301A>T (p.Lys1767Asn)
c.5298A>T (p.Lys1766Asn)
c.5253A>T (p.Lys1751Asn)
c.4377A>T (p.Lys1459Asn)
c.4146A>T (p.Lys1382Asn)
10g.94298471T>ACA377641846PLCE1c.4336T>A (p.Cys1446Ser)
c.*1803T>A (n.*1803T>A)
n.1995T>A
n.679T>A
c.*544T>A (n.*544T>A)
c.4288T>A (p.Cys1430Ser)
n.9468T>A
n.2933T>A
c.5128T>A (p.Cys1710Ser)
c.5212T>A (p.Cys1738Ser)
c.5260T>A (p.Cys1754Ser)
c.4234T>A (p.Cys1412Ser)
c.3815T>A
c.3376T>A (p.Cys1126Ser)
c.*1193T>A (n.*1193T>A)
c.4529T>A
c.4105T>A (p.Cys1369Ser)
c.5302T>A (p.Cys1768Ser)
c.5299T>A (p.Cys1767Ser)
c.5254T>A (p.Cys1752Ser)
c.4378T>A (p.Cys1460Ser)
c.4147T>A (p.Cys1383Ser)
10g.94298471T>CCA377641844PLCE1c.4336T>C (p.Cys1446Arg)
c.*1803T>C (n.*1803T>C)
n.1995T>C
n.679T>C
c.*544T>C (n.*544T>C)
c.4288T>C (p.Cys1430Arg)
n.9468T>C
n.2933T>C
c.5128T>C (p.Cys1710Arg)
c.5212T>C (p.Cys1738Arg)
c.5260T>C (p.Cys1754Arg)
c.4234T>C (p.Cys1412Arg)
c.3815T>C
c.3376T>C (p.Cys1126Arg)
c.*1193T>C (n.*1193T>C)
c.4529T>C
c.4105T>C (p.Cys1369Arg)
c.5302T>C (p.Cys1768Arg)
c.5299T>C (p.Cys1767Arg)
c.5254T>C (p.Cys1752Arg)
c.4378T>C (p.Cys1460Arg)
c.4147T>C (p.Cys1383Arg)
10g.94298471T>GCA377641845PLCE1c.4336T>G (p.Cys1446Gly)
c.*1803T>G (n.*1803T>G)
n.1995T>G
n.679T>G
c.*544T>G (n.*544T>G)
c.4288T>G (p.Cys1430Gly)
n.9468T>G
n.2933T>G
c.5128T>G (p.Cys1710Gly)
c.5212T>G (p.Cys1738Gly)
c.5260T>G (p.Cys1754Gly)
c.4234T>G (p.Cys1412Gly)
c.3815T>G
c.3376T>G (p.Cys1126Gly)
c.*1193T>G (n.*1193T>G)
c.4529T>G
c.4105T>G (p.Cys1369Gly)
c.5302T>G (p.Cys1768Gly)
c.5299T>G (p.Cys1767Gly)
c.5254T>G (p.Cys1752Gly)
c.4378T>G (p.Cys1460Gly)
c.4147T>G (p.Cys1383Gly)
10g.94298472G>ACA377641847PLCE1c.4337G>A (p.Cys1446Tyr)
c.*1804G>A (n.*1804G>A)
n.1996G>A
n.680G>A
c.*545G>A (n.*545G>A)
c.4289G>A (p.Cys1430Tyr)
n.9469G>A
n.2934G>A
c.5129G>A (p.Cys1710Tyr)
c.5213G>A (p.Cys1738Tyr)
c.5261G>A (p.Cys1754Tyr)
c.4235G>A (p.Cys1412Tyr)
c.3816G>A
c.3377G>A (p.Cys1126Tyr)
c.*1194G>A (n.*1194G>A)
c.4530G>A
c.4106G>A (p.Cys1369Tyr)
c.5303G>A (p.Cys1768Tyr)
c.5300G>A (p.Cys1767Tyr)
c.5255G>A (p.Cys1752Tyr)
c.4379G>A (p.Cys1460Tyr)
c.4148G>A (p.Cys1383Tyr)
dbSNP
10g.94298472G>CCA377641848PLCE1c.4337G>C (p.Cys1446Ser)
c.*1804G>C (n.*1804G>C)
n.1996G>C
n.680G>C
c.*545G>C (n.*545G>C)
c.4289G>C (p.Cys1430Ser)
n.9469G>C
n.2934G>C
c.5129G>C (p.Cys1710Ser)
c.5213G>C (p.Cys1738Ser)
c.5261G>C (p.Cys1754Ser)
c.4235G>C (p.Cys1412Ser)
c.3816G>C
c.3377G>C (p.Cys1126Ser)
c.*1194G>C (n.*1194G>C)
c.4530G>C
c.4106G>C (p.Cys1369Ser)
c.5303G>C (p.Cys1768Ser)
c.5300G>C (p.Cys1767Ser)
c.5255G>C (p.Cys1752Ser)
c.4379G>C (p.Cys1460Ser)
c.4148G>C (p.Cys1383Ser)
gnomAD v4
10g.94298472G=CA1928998406PLCE1c.4337G= (p.Cys1446=)
c.*1804G= (n.*1804G=)
n.1996G=
n.680G=
c.*545G= (n.*545G=)
c.4289G= (p.Cys1430=)
n.9469G=
n.2934G=
c.5129G= (p.Cys1710=)
c.5213G= (p.Cys1738=)
c.5261G= (p.Cys1754=)
c.4235G= (p.Cys1412=)
c.3816G=
c.3377G= (p.Cys1126=)
c.*1194G= (n.*1194G=)
c.4530G=
c.4106G= (p.Cys1369=)
c.5303G= (p.Cys1768=)
c.5300G= (p.Cys1767=)
c.5255G= (p.Cys1752=)
c.4379G= (p.Cys1460=)
c.4148G= (p.Cys1383=)
10g.94298472G>TCA377641849PLCE1c.4337G>T (p.Cys1446Phe)
c.*1804G>T (n.*1804G>T)
n.1996G>T
n.680G>T
c.*545G>T (n.*545G>T)
c.4289G>T (p.Cys1430Phe)
n.9469G>T
n.2934G>T
c.5129G>T (p.Cys1710Phe)
c.5213G>T (p.Cys1738Phe)
c.5261G>T (p.Cys1754Phe)
c.4235G>T (p.Cys1412Phe)
c.3816G>T
c.3377G>T (p.Cys1126Phe)
c.*1194G>T (n.*1194G>T)
c.4530G>T
c.4106G>T (p.Cys1369Phe)
c.5303G>T (p.Cys1768Phe)
c.5300G>T (p.Cys1767Phe)
c.5255G>T (p.Cys1752Phe)
c.4379G>T (p.Cys1460Phe)
c.4148G>T (p.Cys1383Phe)
10g.94298473T>ACA377641850PLCE1c.4338T>A (p.Cys1446Ter)
c.*1805T>A (n.*1805T>A)
n.1997T>A
n.681T>A
c.*546T>A (n.*546T>A)
c.4290T>A (p.Cys1430Ter)
n.9470T>A
n.2935T>A
c.5130T>A (p.Cys1710Ter)
c.5214T>A (p.Cys1738Ter)
c.5262T>A (p.Cys1754Ter)
c.4236T>A (p.Cys1412Ter)
c.3817T>A
c.3378T>A (p.Cys1126Ter)
c.*1195T>A (n.*1195T>A)
c.4531T>A
c.4107T>A (p.Cys1369Ter)
c.5304T>A (p.Cys1768Ter)
c.5301T>A (p.Cys1767Ter)
c.5256T>A (p.Cys1752Ter)
c.4380T>A (p.Cys1460Ter)
c.4149T>A (p.Cys1383Ter)
10g.94298473T>CCA470986480PLCE1c.4338T>C (p.Cys1446=)
c.*1805T>C (n.*1805T>C)
n.1997T>C
n.681T>C
c.*546T>C (n.*546T>C)
c.4290T>C (p.Cys1430=)
n.9470T>C
n.2935T>C
c.5130T>C (p.Cys1710=)
c.5214T>C (p.Cys1738=)
c.5262T>C (p.Cys1754=)
c.4236T>C (p.Cys1412=)
c.3817T>C
c.3378T>C (p.Cys1126=)
c.*1195T>C (n.*1195T>C)
c.4531T>C
c.4107T>C (p.Cys1369=)
c.5304T>C (p.Cys1768=)
c.5301T>C (p.Cys1767=)
c.5256T>C (p.Cys1752=)
c.4380T>C (p.Cys1460=)
c.4149T>C (p.Cys1383=)
10g.94298473T>GCA377641851PLCE1c.4338T>G (p.Cys1446Trp)
c.*1805T>G (n.*1805T>G)
n.1997T>G
n.681T>G
c.*546T>G (n.*546T>G)
c.4290T>G (p.Cys1430Trp)
n.9470T>G
n.2935T>G
c.5130T>G (p.Cys1710Trp)
c.5214T>G (p.Cys1738Trp)
c.5262T>G (p.Cys1754Trp)
c.4236T>G (p.Cys1412Trp)
c.3817T>G
c.3378T>G (p.Cys1126Trp)
c.*1195T>G (n.*1195T>G)
c.4531T>G
c.4107T>G (p.Cys1369Trp)
c.5304T>G (p.Cys1768Trp)
c.5301T>G (p.Cys1767Trp)
c.5256T>G (p.Cys1752Trp)
c.4380T>G (p.Cys1460Trp)
c.4149T>G (p.Cys1383Trp)
10g.94298474T>ACA377641852PLCE1c.4339T>A (p.Tyr1447Asn)
c.*1806T>A (n.*1806T>A)
n.1998T>A
n.682T>A
c.*547T>A (n.*547T>A)
c.4291T>A (p.Tyr1431Asn)
n.9471T>A
n.2936T>A
c.5131T>A (p.Tyr1711Asn)
c.5215T>A (p.Tyr1739Asn)
c.5263T>A (p.Tyr1755Asn)
c.4237T>A (p.Tyr1413Asn)
c.3818T>A
c.3379T>A (p.Tyr1127Asn)
c.*1196T>A (n.*1196T>A)
c.4532T>A
c.4108T>A (p.Tyr1370Asn)
c.5305T>A (p.Tyr1769Asn)
c.5302T>A (p.Tyr1768Asn)
c.5257T>A (p.Tyr1753Asn)
c.4381T>A (p.Tyr1461Asn)
c.4150T>A (p.Tyr1384Asn)
10g.94298474T>CCA377641853PLCE1c.4339T>C (p.Tyr1447His)
c.*1806T>C (n.*1806T>C)
n.1998T>C
n.682T>C
c.*547T>C (n.*547T>C)
c.4291T>C (p.Tyr1431His)
n.9471T>C
n.2936T>C
c.5131T>C (p.Tyr1711His)
c.5215T>C (p.Tyr1739His)
c.5263T>C (p.Tyr1755His)
c.4237T>C (p.Tyr1413His)
c.3818T>C
c.3379T>C (p.Tyr1127His)
c.*1196T>C (n.*1196T>C)
c.4532T>C
c.4108T>C (p.Tyr1370His)
c.5305T>C (p.Tyr1769His)
c.5302T>C (p.Tyr1768His)
c.5257T>C (p.Tyr1753His)
c.4381T>C (p.Tyr1461His)
c.4150T>C (p.Tyr1384His)
10g.94298474T>GCA377641854PLCE1c.4339T>G (p.Tyr1447Asp)
c.*1806T>G (n.*1806T>G)
n.1998T>G
n.682T>G
c.*547T>G (n.*547T>G)
c.4291T>G (p.Tyr1431Asp)
n.9471T>G
n.2936T>G
c.5131T>G (p.Tyr1711Asp)
c.5215T>G (p.Tyr1739Asp)
c.5263T>G (p.Tyr1755Asp)
c.4237T>G (p.Tyr1413Asp)
c.3818T>G
c.3379T>G (p.Tyr1127Asp)
c.*1196T>G (n.*1196T>G)
c.4532T>G
c.4108T>G (p.Tyr1370Asp)
c.5305T>G (p.Tyr1769Asp)
c.5302T>G (p.Tyr1768Asp)
c.5257T>G (p.Tyr1753Asp)
c.4381T>G (p.Tyr1461Asp)
c.4150T>G (p.Tyr1384Asp)
10g.94298475A>CCA377641855PLCE1c.4340A>C (p.Tyr1447Ser)
c.*1807A>C (n.*1807A>C)
n.1999A>C
n.683A>C
c.*548A>C (n.*548A>C)
c.4292A>C (p.Tyr1431Ser)
n.9472A>C
n.2937A>C
c.5132A>C (p.Tyr1711Ser)
c.5216A>C (p.Tyr1739Ser)
c.5264A>C (p.Tyr1755Ser)
c.4238A>C (p.Tyr1413Ser)
c.3819A>C
c.3380A>C (p.Tyr1127Ser)
c.*1197A>C (n.*1197A>C)
c.4533A>C
c.4109A>C (p.Tyr1370Ser)
c.5306A>C (p.Tyr1769Ser)
c.5303A>C (p.Tyr1768Ser)
c.5258A>C (p.Tyr1753Ser)
c.4382A>C (p.Tyr1461Ser)
c.4151A>C (p.Tyr1384Ser)
10g.94298475A>GCA377641856PLCE1c.4340A>G (p.Tyr1447Cys)
c.*1807A>G (n.*1807A>G)
n.1999A>G
n.683A>G
c.*548A>G (n.*548A>G)
c.4292A>G (p.Tyr1431Cys)
n.9472A>G
n.2937A>G
c.5132A>G (p.Tyr1711Cys)
c.5216A>G (p.Tyr1739Cys)
c.5264A>G (p.Tyr1755Cys)
c.4238A>G (p.Tyr1413Cys)
c.3819A>G
c.3380A>G (p.Tyr1127Cys)
c.*1197A>G (n.*1197A>G)
c.4533A>G
c.4109A>G (p.Tyr1370Cys)
c.5306A>G (p.Tyr1769Cys)
c.5303A>G (p.Tyr1768Cys)
c.5258A>G (p.Tyr1753Cys)
c.4382A>G (p.Tyr1461Cys)
c.4151A>G (p.Tyr1384Cys)
gnomAD v4
10g.94298475A>TCA377641857PLCE1c.4340A>T (p.Tyr1447Phe)
c.*1807A>T (n.*1807A>T)
n.1999A>T
n.683A>T
c.*548A>T (n.*548A>T)
c.4292A>T (p.Tyr1431Phe)
n.9472A>T
n.2937A>T
c.5132A>T (p.Tyr1711Phe)
c.5216A>T (p.Tyr1739Phe)
c.5264A>T (p.Tyr1755Phe)
c.4238A>T (p.Tyr1413Phe)
c.3819A>T
c.3380A>T (p.Tyr1127Phe)
c.*1197A>T (n.*1197A>T)
c.4533A>T
c.4109A>T (p.Tyr1370Phe)
c.5306A>T (p.Tyr1769Phe)
c.5303A>T (p.Tyr1768Phe)
c.5258A>T (p.Tyr1753Phe)
c.4382A>T (p.Tyr1461Phe)
c.4151A>T (p.Tyr1384Phe)
10g.94298476T>ACA377641858PLCE1c.4341T>A (p.Tyr1447Ter)
c.*1808T>A (n.*1808T>A)
n.2000T>A
n.684T>A
c.*549T>A (n.*549T>A)
c.4293T>A (p.Tyr1431Ter)
n.9473T>A
n.2938T>A
c.5133T>A (p.Tyr1711Ter)
c.5217T>A (p.Tyr1739Ter)
c.5265T>A (p.Tyr1755Ter)
c.4239T>A (p.Tyr1413Ter)
c.3820T>A
c.3381T>A (p.Tyr1127Ter)
c.*1198T>A (n.*1198T>A)
c.4534T>A
c.4110T>A (p.Tyr1370Ter)
c.5307T>A (p.Tyr1769Ter)
c.5304T>A (p.Tyr1768Ter)
c.5259T>A (p.Tyr1753Ter)
c.4383T>A (p.Tyr1461Ter)
c.4152T>A (p.Tyr1384Ter)
10g.94298476T>CCA470986481PLCE1c.4341T>C (p.Tyr1447=)
c.*1808T>C (n.*1808T>C)
n.2000T>C
n.684T>C
c.*549T>C (n.*549T>C)
c.4293T>C (p.Tyr1431=)
n.9473T>C
n.2938T>C
c.5133T>C (p.Tyr1711=)
c.5217T>C (p.Tyr1739=)
c.5265T>C (p.Tyr1755=)
c.4239T>C (p.Tyr1413=)
c.3820T>C
c.3381T>C (p.Tyr1127=)
c.*1198T>C (n.*1198T>C)
c.4534T>C
c.4110T>C (p.Tyr1370=)
c.5307T>C (p.Tyr1769=)
c.5304T>C (p.Tyr1768=)
c.5259T>C (p.Tyr1753=)
c.4383T>C (p.Tyr1461=)
c.4152T>C (p.Tyr1384=)
dbSNP gnomAD v3 gnomAD v4
10g.94298476T>GCA377641859PLCE1c.4341T>G (p.Tyr1447Ter)
c.*1808T>G (n.*1808T>G)
n.2000T>G
n.684T>G
c.*549T>G (n.*549T>G)
c.4293T>G (p.Tyr1431Ter)
n.9473T>G
n.2938T>G
c.5133T>G (p.Tyr1711Ter)
c.5217T>G (p.Tyr1739Ter)
c.5265T>G (p.Tyr1755Ter)
c.4239T>G (p.Tyr1413Ter)
c.3820T>G
c.3381T>G (p.Tyr1127Ter)
c.*1198T>G (n.*1198T>G)
c.4534T>G
c.4110T>G (p.Tyr1370Ter)
c.5307T>G (p.Tyr1769Ter)
c.5304T>G (p.Tyr1768Ter)
c.5259T>G (p.Tyr1753Ter)
c.4383T>G (p.Tyr1461Ter)
c.4152T>G (p.Tyr1384Ter)
10g.94298476T=CA1928998407PLCE1c.4341T= (p.Tyr1447=)
c.*1808T= (n.*1808T=)
n.2000T=
n.684T=
c.*549T= (n.*549T=)
c.4293T= (p.Tyr1431=)
n.9473T=
n.2938T=
c.5133T= (p.Tyr1711=)
c.5217T= (p.Tyr1739=)
c.5265T= (p.Tyr1755=)
c.4239T= (p.Tyr1413=)
c.3820T=
c.3381T= (p.Tyr1127=)
c.*1198T= (n.*1198T=)
c.4534T=
c.4110T= (p.Tyr1370=)
c.5307T= (p.Tyr1769=)
c.5304T= (p.Tyr1768=)
c.5259T= (p.Tyr1753=)
c.4383T= (p.Tyr1461=)
c.4152T= (p.Tyr1384=)
10g.94298477C>ACA377641860PLCE1c.4342C>A (p.His1448Asn)
c.*1809C>A (n.*1809C>A)
n.2001C>A
n.685C>A
c.*550C>A (n.*550C>A)
c.4294C>A (p.His1432Asn)
n.9474C>A
n.2939C>A
c.5134C>A (p.His1712Asn)
c.5218C>A (p.His1740Asn)
c.5266C>A (p.His1756Asn)
c.4240C>A (p.His1414Asn)
c.3821C>A
c.3382C>A (p.His1128Asn)
c.*1199C>A (n.*1199C>A)
c.4535C>A
c.4111C>A
c.5308C>A (p.His1770Asn)
c.5305C>A (p.His1769Asn)
c.5260C>A (p.His1754Asn)
c.4384C>A (p.His1462Asn)
c.4153C>A (p.His1385Asn)
COSMIC COSMIC COSMIC COSMIC
10g.94298477C>GCA377641862PLCE1c.4342C>G (p.His1448Asp)
c.*1809C>G (n.*1809C>G)
n.2001C>G
n.685C>G
c.*550C>G (n.*550C>G)
c.4294C>G (p.His1432Asp)
n.9474C>G
n.2939C>G
c.5134C>G (p.His1712Asp)
c.5218C>G (p.His1740Asp)
c.5266C>G (p.His1756Asp)
c.4240C>G (p.His1414Asp)
c.3821C>G
c.3382C>G (p.His1128Asp)
c.*1199C>G (n.*1199C>G)
c.4535C>G
c.4111C>G
c.5308C>G (p.His1770Asp)
c.5305C>G (p.His1769Asp)
c.5260C>G (p.His1754Asp)
c.4384C>G (p.His1462Asp)
c.4153C>G (p.His1385Asp)
10g.94298477C>TCA377641861PLCE1c.4342C>T (p.His1448Tyr)
c.*1809C>T (n.*1809C>T)
n.2001C>T
n.685C>T
c.*550C>T (n.*550C>T)
c.4294C>T (p.His1432Tyr)
n.9474C>T
n.2939C>T
c.5134C>T (p.His1712Tyr)
c.5218C>T (p.His1740Tyr)
c.5266C>T (p.His1756Tyr)
c.4240C>T (p.His1414Tyr)
c.3821C>T
c.3382C>T (p.His1128Tyr)
c.*1199C>T (n.*1199C>T)
c.4535C>T
c.4111C>T
c.5308C>T (p.His1770Tyr)
c.5305C>T (p.His1769Tyr)
c.5260C>T (p.His1754Tyr)
c.4384C>T (p.His1462Tyr)
c.4153C>T (p.His1385Tyr)
10g.94298478A=CA1928998408PLCE1c.4343A= (p.His1448=)
c.*1810A= (n.*1810A=)
n.2002A=
n.686A=
c.*551A= (n.*551A=)
c.4295A= (p.His1432=)
n.9475A=
n.2940A=
c.5135A= (p.His1712=)
c.5219A= (p.His1740=)
c.5267A= (p.His1756=)
c.4241A= (p.His1414=)
c.3822A=
c.3383A= (p.His1128=)
c.*1200A= (n.*1200A=)
c.4536A=
c.5309A= (p.His1770=)
c.5306A= (p.His1769=)
c.5261A= (p.His1754=)
c.4385A= (p.His1462=)
c.4154A= (p.His1385=)
10g.94298478A>CCA377641863PLCE1c.4343A>C (p.His1448Pro)
c.*1810A>C (n.*1810A>C)
n.2002A>C
n.686A>C
c.*551A>C (n.*551A>C)
c.4295A>C (p.His1432Pro)
n.9475A>C
n.2940A>C
c.5135A>C (p.His1712Pro)
c.5219A>C (p.His1740Pro)
c.5267A>C (p.His1756Pro)
c.4241A>C (p.His1414Pro)
c.3822A>C
c.3383A>C (p.His1128Pro)
c.*1200A>C (n.*1200A>C)
c.4536A>C
c.5309A>C (p.His1770Pro)
c.5306A>C (p.His1769Pro)
c.5261A>C (p.His1754Pro)
c.4385A>C (p.His1462Pro)
c.4154A>C (p.His1385Pro)
10g.94298478A>GCA5613324PLCE1c.4343A>G (p.His1448Arg)
c.*1810A>G (n.*1810A>G)
n.2002A>G
n.686A>G
c.*551A>G (n.*551A>G)
c.4295A>G (p.His1432Arg)
n.9475A>G
n.2940A>G
c.5135A>G (p.His1712Arg)
c.5219A>G (p.His1740Arg)
c.5267A>G (p.His1756Arg)
c.4241A>G (p.His1414Arg)
c.3822A>G
c.3383A>G (p.His1128Arg)
c.*1200A>G (n.*1200A>G)
c.4536A>G
c.5309A>G (p.His1770Arg)
c.5306A>G (p.His1769Arg)
c.5261A>G (p.His1754Arg)
c.4385A>G (p.His1462Arg)
c.4154A>G (p.His1385Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298478A>TCA377641864PLCE1c.4343A>T (p.His1448Leu)
c.*1810A>T (n.*1810A>T)
n.2002A>T
n.686A>T
c.*551A>T (n.*551A>T)
c.4295A>T (p.His1432Leu)
n.9475A>T
n.2940A>T
c.5135A>T (p.His1712Leu)
c.5219A>T (p.His1740Leu)
c.5267A>T (p.His1756Leu)
c.4241A>T (p.His1414Leu)
c.3822A>T
c.3383A>T (p.His1128Leu)
c.*1200A>T (n.*1200A>T)
c.4536A>T
c.5309A>T (p.His1770Leu)
c.5306A>T (p.His1769Leu)
c.5261A>T (p.His1754Leu)
c.4385A>T (p.His1462Leu)
c.4154A>T (p.His1385Leu)
10g.94298479T>ACA377641865PLCE1c.4344T>A (p.His1448Gln)
c.*1811T>A (n.*1811T>A)
n.2003T>A
n.687T>A
c.*552T>A (n.*552T>A)
c.4296T>A (p.His1432Gln)
n.9476T>A
n.2941T>A
c.5136T>A (p.His1712Gln)
c.5220T>A (p.His1740Gln)
c.5268T>A (p.His1756Gln)
c.4242T>A (p.His1414Gln)
c.3823T>A
c.3384T>A (p.His1128Gln)
c.*1201T>A (n.*1201T>A)
c.4537T>A
c.5310T>A (p.His1770Gln)
c.5307T>A (p.His1769Gln)
c.5262T>A (p.His1754Gln)
c.4386T>A (p.His1462Gln)
c.4155T>A (p.His1385Gln)
10g.94298479T>CCA470986482PLCE1c.4344T>C (p.His1448=)
c.*1811T>C (n.*1811T>C)
n.2003T>C
n.687T>C
c.*552T>C (n.*552T>C)
c.4296T>C (p.His1432=)
n.9476T>C
n.2941T>C
c.5136T>C (p.His1712=)
c.5220T>C (p.His1740=)
c.5268T>C (p.His1756=)
c.4242T>C (p.His1414=)
c.3823T>C
c.3384T>C (p.His1128=)
c.*1201T>C (n.*1201T>C)
c.4537T>C
c.5310T>C (p.His1770=)
c.5307T>C (p.His1769=)
c.5262T>C (p.His1754=)
c.4386T>C (p.His1462=)
c.4155T>C (p.His1385=)
dbSNP gnomAD v4
10g.94298479T>GCA377641866PLCE1c.4344T>G (p.His1448Gln)
c.*1811T>G (n.*1811T>G)
n.2003T>G
n.687T>G
c.*552T>G (n.*552T>G)
c.4296T>G (p.His1432Gln)
n.9476T>G
n.2941T>G
c.5136T>G (p.His1712Gln)
c.5220T>G (p.His1740Gln)
c.5268T>G (p.His1756Gln)
c.4242T>G (p.His1414Gln)
c.3823T>G
c.3384T>G (p.His1128Gln)
c.*1201T>G (n.*1201T>G)
c.4537T>G
c.5310T>G (p.His1770Gln)
c.5307T>G (p.His1769Gln)
c.5262T>G (p.His1754Gln)
c.4386T>G (p.His1462Gln)
c.4155T>G (p.His1385Gln)
10g.94298479T=CA1928998409PLCE1c.4344T= (p.His1448=)
c.*1811T= (n.*1811T=)
n.2003T=
n.687T=
c.*552T= (n.*552T=)
c.4296T= (p.His1432=)
n.9476T=
n.2941T=
c.5136T= (p.His1712=)
c.5220T= (p.His1740=)
c.5268T= (p.His1756=)
c.4242T= (p.His1414=)
c.3823T=
c.3384T= (p.His1128=)
c.*1201T= (n.*1201T=)
c.4537T=
c.5310T= (p.His1770=)
c.5307T= (p.His1769=)
c.5262T= (p.His1754=)
c.4386T= (p.His1462=)
c.4155T= (p.His1385=)
10g.94298479dupCA2610239639PLCE1c.4344dup (p.Ile1449TyrfsTer6)
c.*1811dup (n.*1811dup)
n.2003dup
n.687dup
c.*552dup (n.*552dup)
c.4296dup (p.Ile1433TyrfsTer6)
n.9476dup
n.2941dup
c.5136dup (p.Ile1713TyrfsTer6)
c.5220dup (p.Ile1741TyrfsTer6)
c.5268dup (p.Ile1757TyrfsTer6)
c.4242dup (p.Ile1415TyrfsTer6)
c.3823dup
c.3384dup (p.Ile1129TyrfsTer6)
c.*1201dup (n.*1201dup)
c.4537dup
c.5310dup (p.Ile1771TyrfsTer6)
c.5307dup (p.Ile1770TyrfsTer6)
c.5262dup (p.Ile1755TyrfsTer6)
c.4386dup (p.Ile1463TyrfsTer6)
c.4155dup (p.Ile1386TyrfsTer6)
gnomAD v4
10g.94298480A>CCA377641867PLCE1c.4345A>C (p.Ile1449Leu)
c.*1812A>C (n.*1812A>C)
n.2004A>C
n.688A>C
c.*553A>C (n.*553A>C)
c.4297A>C (p.Ile1433Leu)
n.9477A>C
n.2942A>C
c.5137A>C (p.Ile1713Leu)
c.5221A>C (p.Ile1741Leu)
c.5269A>C (p.Ile1757Leu)
c.4243A>C (p.Ile1415Leu)
c.3824A>C
c.3385A>C (p.Ile1129Leu)
c.*1202A>C (n.*1202A>C)
c.4538A>C
c.5311A>C (p.Ile1771Leu)
c.5308A>C (p.Ile1770Leu)
c.5263A>C (p.Ile1755Leu)
c.4387A>C (p.Ile1463Leu)
c.4156A>C (p.Ile1386Leu)
10g.94298480A>GCA377641868PLCE1c.4345A>G (p.Ile1449Val)
c.*1812A>G (n.*1812A>G)
n.2004A>G
n.688A>G
c.*553A>G (n.*553A>G)
c.4297A>G (p.Ile1433Val)
n.9477A>G
n.2942A>G
c.5137A>G (p.Ile1713Val)
c.5221A>G (p.Ile1741Val)
c.5269A>G (p.Ile1757Val)
c.4243A>G (p.Ile1415Val)
c.3824A>G
c.3385A>G (p.Ile1129Val)
c.*1202A>G (n.*1202A>G)
c.4538A>G
c.5311A>G (p.Ile1771Val)
c.5308A>G (p.Ile1770Val)
c.5263A>G (p.Ile1755Val)
c.4387A>G (p.Ile1463Val)
c.4156A>G (p.Ile1386Val)
gnomAD v4
10g.94298480A>TCA377641869PLCE1c.4345A>T (p.Ile1449Phe)
c.*1812A>T (n.*1812A>T)
n.2004A>T
n.688A>T
c.*553A>T (n.*553A>T)
c.4297A>T (p.Ile1433Phe)
n.9477A>T
n.2942A>T
c.5137A>T (p.Ile1713Phe)
c.5221A>T (p.Ile1741Phe)
c.5269A>T (p.Ile1757Phe)
c.4243A>T (p.Ile1415Phe)
c.3824A>T
c.3385A>T (p.Ile1129Phe)
c.*1202A>T (n.*1202A>T)
c.4538A>T
c.5311A>T (p.Ile1771Phe)
c.5308A>T (p.Ile1770Phe)
c.5263A>T (p.Ile1755Phe)
c.4387A>T (p.Ile1463Phe)
c.4156A>T (p.Ile1386Phe)
10g.94298481T>ACA377641870PLCE1c.4346T>A (p.Ile1449Asn)
c.*1813T>A (n.*1813T>A)
n.2005T>A
n.689T>A
c.*554T>A (n.*554T>A)
c.4298T>A (p.Ile1433Asn)
n.9478T>A
n.2943T>A
c.5138T>A (p.Ile1713Asn)
c.5222T>A (p.Ile1741Asn)
c.5270T>A (p.Ile1757Asn)
c.4244T>A (p.Ile1415Asn)
c.3825T>A
c.3386T>A (p.Ile1129Asn)
c.*1203T>A (n.*1203T>A)
c.4539T>A
c.5312T>A (p.Ile1771Asn)
c.5309T>A (p.Ile1770Asn)
c.5264T>A (p.Ile1755Asn)
c.4388T>A (p.Ile1463Asn)
c.4157T>A (p.Ile1386Asn)
gnomAD v4
10g.94298481T>CCA377641871PLCE1c.4346T>C (p.Ile1449Thr)
c.*1813T>C (n.*1813T>C)
n.2005T>C
n.689T>C
c.*554T>C (n.*554T>C)
c.4298T>C (p.Ile1433Thr)
n.9478T>C
n.2943T>C
c.5138T>C (p.Ile1713Thr)
c.5222T>C (p.Ile1741Thr)
c.5270T>C (p.Ile1757Thr)
c.4244T>C (p.Ile1415Thr)
c.3825T>C
c.3386T>C (p.Ile1129Thr)
c.*1203T>C (n.*1203T>C)
c.4539T>C
c.5312T>C (p.Ile1771Thr)
c.5309T>C (p.Ile1770Thr)
c.5264T>C (p.Ile1755Thr)
c.4388T>C (p.Ile1463Thr)
c.4157T>C (p.Ile1386Thr)
10g.94298481T>GCA377641872PLCE1c.4346T>G (p.Ile1449Ser)
c.*1813T>G (n.*1813T>G)
n.2005T>G
n.689T>G
c.*554T>G (n.*554T>G)
c.4298T>G (p.Ile1433Ser)
n.9478T>G
n.2943T>G
c.5138T>G (p.Ile1713Ser)
c.5222T>G (p.Ile1741Ser)
c.5270T>G (p.Ile1757Ser)
c.4244T>G (p.Ile1415Ser)
c.3825T>G
c.3386T>G (p.Ile1129Ser)
c.*1203T>G (n.*1203T>G)
c.4539T>G
c.5312T>G (p.Ile1771Ser)
c.5309T>G (p.Ile1770Ser)
c.5264T>G (p.Ile1755Ser)
c.4388T>G (p.Ile1463Ser)
c.4157T>G (p.Ile1386Ser)
10g.94298482C>ACA470986483PLCE1c.4347C>A (p.Ile1449=)
c.*1814C>A (n.*1814C>A)
n.2006C>A
n.690C>A
c.*555C>A (n.*555C>A)
c.4299C>A (p.Ile1433=)
n.9479C>A
n.2944C>A
c.5139C>A (p.Ile1713=)
c.5223C>A (p.Ile1741=)
c.5271C>A (p.Ile1757=)
c.4245C>A (p.Ile1415=)
c.3826C>A
c.3387C>A (p.Ile1129=)
c.*1204C>A (n.*1204C>A)
c.4540C>A
c.5313C>A (p.Ile1771=)
c.5310C>A (p.Ile1770=)
c.5265C>A (p.Ile1755=)
c.4389C>A (p.Ile1463=)
c.4158C>A (p.Ile1386=)
10g.94298482C=CA1928998410PLCE1c.4347C= (p.Ile1449=)
c.*1814C= (n.*1814C=)
n.2006C=
n.690C=
c.*555C= (n.*555C=)
c.4299C= (p.Ile1433=)
n.9479C=
n.2944C=
c.5139C= (p.Ile1713=)
c.5223C= (p.Ile1741=)
c.5271C= (p.Ile1757=)
c.4245C= (p.Ile1415=)
c.3826C=
c.3387C= (p.Ile1129=)
c.*1204C= (n.*1204C=)
c.4540C=
c.5313C= (p.Ile1771=)
c.5310C= (p.Ile1770=)
c.5265C= (p.Ile1755=)
c.4389C= (p.Ile1463=)
c.4158C= (p.Ile1386=)
10g.94298482C>GCA377641873PLCE1c.4347C>G (p.Ile1449Met)
c.*1814C>G (n.*1814C>G)
n.2006C>G
n.690C>G
c.*555C>G (n.*555C>G)
c.4299C>G (p.Ile1433Met)
n.9479C>G
n.2944C>G
c.5139C>G (p.Ile1713Met)
c.5223C>G (p.Ile1741Met)
c.5271C>G (p.Ile1757Met)
c.4245C>G (p.Ile1415Met)
c.3826C>G
c.3387C>G (p.Ile1129Met)
c.*1204C>G (n.*1204C>G)
c.4540C>G
c.5313C>G (p.Ile1771Met)
c.5310C>G (p.Ile1770Met)
c.5265C>G (p.Ile1755Met)
c.4389C>G (p.Ile1463Met)
c.4158C>G (p.Ile1386Met)
10g.94298482C>TCA211599649PLCE1c.4347C>T (p.Ile1449=)
c.*1814C>T (n.*1814C>T)
n.2006C>T
n.690C>T
c.*555C>T (n.*555C>T)
c.4299C>T (p.Ile1433=)
n.9479C>T
n.2944C>T
c.5139C>T (p.Ile1713=)
c.5223C>T (p.Ile1741=)
c.5271C>T (p.Ile1757=)
c.4245C>T (p.Ile1415=)
c.3826C>T
c.3387C>T (p.Ile1129=)
c.*1204C>T (n.*1204C>T)
c.4540C>T
c.5313C>T (p.Ile1771=)
c.5310C>T (p.Ile1770=)
c.5265C>T (p.Ile1755=)
c.4389C>T (p.Ile1463=)
c.4158C>T (p.Ile1386=)
dbSNP
10g.94298483T>ACA377641876PLCE1c.4348T>A (p.Ser1450Thr)
c.*1815T>A (n.*1815T>A)
n.2007T>A
n.691T>A
c.*556T>A (n.*556T>A)
c.4300T>A (p.Ser1434Thr)
n.9480T>A
n.2945T>A
c.5140T>A (p.Ser1714Thr)
c.5224T>A (p.Ser1742Thr)
c.5272T>A (p.Ser1758Thr)
c.4246T>A (p.Ser1416Thr)
c.3827T>A
c.3388T>A (p.Ser1130Thr)
c.*1205T>A (n.*1205T>A)
c.4541T>A
c.5314T>A (p.Ser1772Thr)
c.5311T>A (p.Ser1771Thr)
c.5266T>A (p.Ser1756Thr)
c.4390T>A (p.Ser1464Thr)
c.4159T>A (p.Ser1387Thr)
10g.94298483T>CCA377641874PLCE1c.4348T>C (p.Ser1450Pro)
c.*1815T>C (n.*1815T>C)
n.2007T>C
n.691T>C
c.*556T>C (n.*556T>C)
c.4300T>C (p.Ser1434Pro)
n.9480T>C
n.2945T>C
c.5140T>C (p.Ser1714Pro)
c.5224T>C (p.Ser1742Pro)
c.5272T>C (p.Ser1758Pro)
c.4246T>C (p.Ser1416Pro)
c.3827T>C
c.3388T>C (p.Ser1130Pro)
c.*1205T>C (n.*1205T>C)
c.4541T>C
c.5314T>C (p.Ser1772Pro)
c.5311T>C (p.Ser1771Pro)
c.5266T>C (p.Ser1756Pro)
c.4390T>C (p.Ser1464Pro)
c.4159T>C (p.Ser1387Pro)
10g.94298483T>GCA377641875PLCE1c.4348T>G (p.Ser1450Ala)
c.*1815T>G (n.*1815T>G)
n.2007T>G
n.691T>G
c.*556T>G (n.*556T>G)
c.4300T>G (p.Ser1434Ala)
n.9480T>G
n.2945T>G
c.5140T>G (p.Ser1714Ala)
c.5224T>G (p.Ser1742Ala)
c.5272T>G (p.Ser1758Ala)
c.4246T>G (p.Ser1416Ala)
c.3827T>G
c.3388T>G (p.Ser1130Ala)
c.*1205T>G (n.*1205T>G)
c.4541T>G
c.5314T>G (p.Ser1772Ala)
c.5311T>G (p.Ser1771Ala)
c.5266T>G (p.Ser1756Ala)
c.4390T>G (p.Ser1464Ala)
c.4159T>G (p.Ser1387Ala)
10g.94298484C>ACA377641877PLCE1c.4349C>A (p.Ser1450Ter)
c.*1816C>A (n.*1816C>A)
n.2008C>A
n.692C>A
c.*557C>A (n.*557C>A)
c.4301C>A (p.Ser1434Ter)
n.9481C>A
n.2946C>A
c.5141C>A (p.Ser1714Ter)
c.5225C>A (p.Ser1742Ter)
c.5273C>A (p.Ser1758Ter)
c.4247C>A (p.Ser1416Ter)
c.3828C>A
c.3389C>A (p.Ser1130Ter)
c.*1206C>A (n.*1206C>A)
c.4542C>A
c.5315C>A (p.Ser1772Ter)
c.5312C>A (p.Ser1771Ter)
c.5267C>A (p.Ser1756Ter)
c.4391C>A (p.Ser1464Ter)
c.4160C>A (p.Ser1387Ter)
10g.94298484C>GCA377641878PLCE1c.4349C>G (p.Ser1450Trp)
c.*1816C>G (n.*1816C>G)
n.2008C>G
n.692C>G
c.*557C>G (n.*557C>G)
c.4301C>G (p.Ser1434Trp)
n.9481C>G
n.2946C>G
c.5141C>G (p.Ser1714Trp)
c.5225C>G (p.Ser1742Trp)
c.5273C>G (p.Ser1758Trp)
c.4247C>G (p.Ser1416Trp)
c.3828C>G
c.3389C>G (p.Ser1130Trp)
c.*1206C>G (n.*1206C>G)
c.4542C>G
c.5315C>G (p.Ser1772Trp)
c.5312C>G (p.Ser1771Trp)
c.5267C>G (p.Ser1756Trp)
c.4391C>G (p.Ser1464Trp)
c.4160C>G (p.Ser1387Trp)
10g.94298484C>TCA377641879PLCE1c.4349C>T (p.Ser1450Leu)
c.*1816C>T (n.*1816C>T)
n.2008C>T
n.692C>T
c.*557C>T (n.*557C>T)
c.4301C>T (p.Ser1434Leu)
n.9481C>T
n.2946C>T
c.5141C>T (p.Ser1714Leu)
c.5225C>T (p.Ser1742Leu)
c.5273C>T (p.Ser1758Leu)
c.4247C>T (p.Ser1416Leu)
c.3828C>T
c.3389C>T (p.Ser1130Leu)
c.*1206C>T (n.*1206C>T)
c.4542C>T
c.5315C>T (p.Ser1772Leu)
c.5312C>T (p.Ser1771Leu)
c.5267C>T (p.Ser1756Leu)
c.4391C>T (p.Ser1464Leu)
c.4160C>T (p.Ser1387Leu)
gnomAD v4
10g.94298485G>ACA5613325PLCE1c.4350G>A (p.Ser1450=)
c.*1817G>A (n.*1817G>A)
n.2009G>A
n.693G>A
c.*558G>A (n.*558G>A)
c.4302G>A (p.Ser1434=)
n.9482G>A
n.2947G>A
c.5142G>A (p.Ser1714=)
c.5226G>A (p.Ser1742=)
c.5274G>A (p.Ser1758=)
c.4248G>A (p.Ser1416=)
c.3829G>A
c.3390G>A (p.Ser1130=)
c.*1207G>A (n.*1207G>A)
c.4543G>A
c.5316G>A (p.Ser1772=)
c.5313G>A (p.Ser1771=)
c.5268G>A (p.Ser1756=)
c.4392G>A (p.Ser1464=)
c.4161G>A (p.Ser1387=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298485G>CCA470986490PLCE1c.4350G>C (p.Ser1450=)
c.*1817G>C (n.*1817G>C)
n.2009G>C
n.693G>C
c.*558G>C (n.*558G>C)
c.4302G>C (p.Ser1434=)
n.9482G>C
n.2947G>C
c.5142G>C (p.Ser1714=)
c.5226G>C (p.Ser1742=)
c.5274G>C (p.Ser1758=)
c.4248G>C (p.Ser1416=)
c.3829G>C
c.3390G>C (p.Ser1130=)
c.*1207G>C (n.*1207G>C)
c.4543G>C
c.5316G>C (p.Ser1772=)
c.5313G>C (p.Ser1771=)
c.5268G>C (p.Ser1756=)
c.4392G>C (p.Ser1464=)
c.4161G>C (p.Ser1387=)
gnomAD v4
10g.94298485G=CA1928998411PLCE1c.4350G= (p.Ser1450=)
c.*1817G= (n.*1817G=)
n.2009G=
n.693G=
c.*558G= (n.*558G=)
c.4302G= (p.Ser1434=)
n.9482G=
n.2947G=
c.5142G= (p.Ser1714=)
c.5226G= (p.Ser1742=)
c.5274G= (p.Ser1758=)
c.4248G= (p.Ser1416=)
c.3829G=
c.3390G= (p.Ser1130=)
c.*1207G= (n.*1207G=)
c.4543G=
c.5316G= (p.Ser1772=)
c.5313G= (p.Ser1771=)
c.5268G= (p.Ser1756=)
c.4392G= (p.Ser1464=)
c.4161G= (p.Ser1387=)
10g.94298485G>TCA470986488PLCE1c.4350G>T (p.Ser1450=)
c.*1817G>T (n.*1817G>T)
n.2009G>T
n.693G>T
c.*558G>T (n.*558G>T)
c.4302G>T (p.Ser1434=)
n.9482G>T
n.2947G>T
c.5142G>T (p.Ser1714=)
c.5226G>T (p.Ser1742=)
c.5274G>T (p.Ser1758=)
c.4248G>T (p.Ser1416=)
c.3829G>T
c.3390G>T (p.Ser1130=)
c.*1207G>T (n.*1207G>T)
c.4543G>T
c.5316G>T (p.Ser1772=)
c.5313G>T (p.Ser1771=)
c.5268G>T (p.Ser1756=)
c.4392G>T (p.Ser1464=)
c.4161G>T (p.Ser1387=)
10g.94298486T>ACA377641880PLCE1c.4351T>A (p.Ser1451Thr)
c.*1818T>A (n.*1818T>A)
n.2010T>A
n.694T>A
c.*559T>A (n.*559T>A)
c.4303T>A (p.Ser1435Thr)
n.9483T>A
n.2948T>A
c.5143T>A (p.Ser1715Thr)
c.5227T>A (p.Ser1743Thr)
c.5275T>A (p.Ser1759Thr)
c.4249T>A (p.Ser1417Thr)
c.3830T>A
c.3391T>A (p.Ser1131Thr)
c.*1208T>A (n.*1208T>A)
c.4544T>A
c.5317T>A (p.Ser1773Thr)
c.5314T>A (p.Ser1772Thr)
c.5269T>A (p.Ser1757Thr)
c.4393T>A (p.Ser1465Thr)
c.4162T>A (p.Ser1388Thr)
10g.94298486T>CCA377641881PLCE1c.4351T>C (p.Ser1451Pro)
c.*1818T>C (n.*1818T>C)
n.2010T>C
n.694T>C
c.*559T>C (n.*559T>C)
c.4303T>C (p.Ser1435Pro)
n.9483T>C
n.2948T>C
c.5143T>C (p.Ser1715Pro)
c.5227T>C (p.Ser1743Pro)
c.5275T>C (p.Ser1759Pro)
c.4249T>C (p.Ser1417Pro)
c.3830T>C
c.3391T>C (p.Ser1131Pro)
c.*1208T>C (n.*1208T>C)
c.4544T>C
c.5317T>C (p.Ser1773Pro)
c.5314T>C (p.Ser1772Pro)
c.5269T>C (p.Ser1757Pro)
c.4393T>C (p.Ser1465Pro)
c.4162T>C (p.Ser1388Pro)
10g.94298486T>GCA377641882PLCE1c.4351T>G (p.Ser1451Ala)
c.*1818T>G (n.*1818T>G)
n.2010T>G
n.694T>G
c.*559T>G (n.*559T>G)
c.4303T>G (p.Ser1435Ala)
n.9483T>G
n.2948T>G
c.5143T>G (p.Ser1715Ala)
c.5227T>G (p.Ser1743Ala)
c.5275T>G (p.Ser1759Ala)
c.4249T>G (p.Ser1417Ala)
c.3830T>G
c.3391T>G (p.Ser1131Ala)
c.*1208T>G (n.*1208T>G)
c.4544T>G
c.5317T>G (p.Ser1773Ala)
c.5314T>G (p.Ser1772Ala)
c.5269T>G (p.Ser1757Ala)
c.4393T>G (p.Ser1465Ala)
c.4162T>G (p.Ser1388Ala)
10g.94298487C>ACA377641883PLCE1c.4352C>A (p.Ser1451Ter)
c.*1819C>A (n.*1819C>A)
n.2011C>A
n.695C>A
c.*560C>A (n.*560C>A)
c.4304C>A (p.Ser1435Ter)
n.9484C>A
n.2949C>A
c.5144C>A (p.Ser1715Ter)
c.5228C>A (p.Ser1743Ter)
c.5276C>A (p.Ser1759Ter)
c.4250C>A (p.Ser1417Ter)
c.3831C>A
c.3392C>A (p.Ser1131Ter)
c.*1209C>A (n.*1209C>A)
c.4545C>A
c.5318C>A (p.Ser1773Ter)
c.5315C>A (p.Ser1772Ter)
c.5270C>A (p.Ser1757Ter)
c.4394C>A (p.Ser1465Ter)
c.4163C>A (p.Ser1388Ter)
10g.94298487C=CA1928998412PLCE1c.4352C= (p.Ser1451=)
c.*1819C= (n.*1819C=)
n.2011C=
n.695C=
c.*560C= (n.*560C=)
c.4304C= (p.Ser1435=)
n.9484C=
n.2949C=
c.5144C= (p.Ser1715=)
c.5228C= (p.Ser1743=)
c.5276C= (p.Ser1759=)
c.4250C= (p.Ser1417=)
c.3831C=
c.3392C= (p.Ser1131=)
c.*1209C= (n.*1209C=)
c.4545C=
c.5318C= (p.Ser1773=)
c.5315C= (p.Ser1772=)
c.5270C= (p.Ser1757=)
c.4394C= (p.Ser1465=)
c.4163C= (p.Ser1388=)
10g.94298487C>GCA377641884PLCE1c.4352C>G (p.Ser1451Trp)
c.*1819C>G (n.*1819C>G)
n.2011C>G
n.695C>G
c.*560C>G (n.*560C>G)
c.4304C>G (p.Ser1435Trp)
n.9484C>G
n.2949C>G
c.5144C>G (p.Ser1715Trp)
c.5228C>G (p.Ser1743Trp)
c.5276C>G (p.Ser1759Trp)
c.4250C>G (p.Ser1417Trp)
c.3831C>G
c.3392C>G (p.Ser1131Trp)
c.*1209C>G (n.*1209C>G)
c.4545C>G
c.5318C>G (p.Ser1773Trp)
c.5315C>G (p.Ser1772Trp)
c.5270C>G (p.Ser1757Trp)
c.4394C>G (p.Ser1465Trp)
c.4163C>G (p.Ser1388Trp)
10g.94298487C>TCA5613326PLCE1c.4352C>T (p.Ser1451Leu)
c.*1819C>T (n.*1819C>T)
n.2011C>T
n.695C>T
c.*560C>T (n.*560C>T)
c.4304C>T (p.Ser1435Leu)
n.9484C>T
n.2949C>T
c.5144C>T (p.Ser1715Leu)
c.5228C>T (p.Ser1743Leu)
c.5276C>T (p.Ser1759Leu)
c.4250C>T (p.Ser1417Leu)
c.3831C>T
c.3392C>T (p.Ser1131Leu)
c.*1209C>T (n.*1209C>T)
c.4545C>T
c.5318C>T (p.Ser1773Leu)
c.5315C>T (p.Ser1772Leu)
c.5270C>T (p.Ser1757Leu)
c.4394C>T (p.Ser1465Leu)
c.4163C>T (p.Ser1388Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298488G>ACA211599657PLCE1c.4353G>A (p.Ser1451=)
c.*1820G>A (n.*1820G>A)
n.2012G>A
n.696G>A
c.*561G>A (n.*561G>A)
c.4305G>A (p.Ser1435=)
n.9485G>A
n.2950G>A
c.5145G>A (p.Ser1715=)
c.5229G>A (p.Ser1743=)
c.5277G>A (p.Ser1759=)
c.4251G>A (p.Ser1417=)
c.3832G>A
c.3393G>A (p.Ser1131=)
c.*1210G>A (n.*1210G>A)
c.4546G>A
c.5319G>A (p.Ser1773=)
c.5316G>A (p.Ser1772=)
c.5271G>A (p.Ser1757=)
c.4395G>A (p.Ser1465=)
c.4164G>A (p.Ser1388=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.94298488G>CCA470986494PLCE1c.4353G>C (p.Ser1451=)
c.*1820G>C (n.*1820G>C)
n.2012G>C
n.696G>C
c.*561G>C (n.*561G>C)
c.4305G>C (p.Ser1435=)
n.9485G>C
n.2950G>C
c.5145G>C (p.Ser1715=)
c.5229G>C (p.Ser1743=)
c.5277G>C (p.Ser1759=)
c.4251G>C (p.Ser1417=)
c.3832G>C
c.3393G>C (p.Ser1131=)
c.*1210G>C (n.*1210G>C)
c.4546G>C
c.5319G>C (p.Ser1773=)
c.5316G>C (p.Ser1772=)
c.5271G>C (p.Ser1757=)
c.4395G>C (p.Ser1465=)
c.4164G>C (p.Ser1388=)
10g.94298488G=CA1928998413PLCE1c.4353G= (p.Ser1451=)
c.*1820G= (n.*1820G=)
n.2012G=
n.696G=
c.*561G= (n.*561G=)
c.4305G= (p.Ser1435=)
n.9485G=
n.2950G=
c.5145G= (p.Ser1715=)
c.5229G= (p.Ser1743=)
c.5277G= (p.Ser1759=)
c.4251G= (p.Ser1417=)
c.3832G=
c.3393G= (p.Ser1131=)
c.*1210G= (n.*1210G=)
c.4546G=
c.5319G= (p.Ser1773=)
c.5316G= (p.Ser1772=)
c.5271G= (p.Ser1757=)
c.4395G= (p.Ser1465=)
c.4164G= (p.Ser1388=)
10g.94298488G>TCA470986493PLCE1c.4353G>T (p.Ser1451=)
c.*1820G>T (n.*1820G>T)
n.2012G>T
n.696G>T
c.*561G>T (n.*561G>T)
c.4305G>T (p.Ser1435=)
n.9485G>T
n.2950G>T
c.5145G>T (p.Ser1715=)
c.5229G>T (p.Ser1743=)
c.5277G>T (p.Ser1759=)
c.4251G>T (p.Ser1417=)
c.3832G>T
c.3393G>T (p.Ser1131=)
c.*1210G>T (n.*1210G>T)
c.4546G>T
c.5319G>T (p.Ser1773=)
c.5316G>T (p.Ser1772=)
c.5271G>T (p.Ser1757=)
c.4395G>T (p.Ser1465=)
c.4164G>T (p.Ser1388=)
10g.94298489C>ACA377641885PLCE1c.4354C>A (p.Leu1452Met)
c.*1821C>A (n.*1821C>A)
n.2013C>A
n.697C>A
c.*562C>A (n.*562C>A)
c.4306C>A (p.Leu1436Met)
n.9486C>A
n.2951C>A
c.5146C>A (p.Leu1716Met)
c.5230C>A (p.Leu1744Met)
c.5278C>A (p.Leu1760Met)
c.4252C>A (p.Leu1418Met)
c.3833C>A
c.3394C>A (p.Leu1132Met)
c.*1211C>A (n.*1211C>A)
c.4547C>A
c.5320C>A (p.Leu1774Met)
c.5317C>A (p.Leu1773Met)
c.5272C>A (p.Leu1758Met)
c.4396C>A (p.Leu1466Met)
c.4165C>A (p.Leu1389Met)
10g.94298489C=CA1928998414PLCE1c.4354C= (p.Leu1452=)
c.*1821C= (n.*1821C=)
n.2013C=
n.697C=
c.*562C= (n.*562C=)
c.4306C= (p.Leu1436=)
n.9486C=
n.2951C=
c.5146C= (p.Leu1716=)
c.5230C= (p.Leu1744=)
c.5278C= (p.Leu1760=)
c.4252C= (p.Leu1418=)
c.3833C=
c.3394C= (p.Leu1132=)
c.*1211C= (n.*1211C=)
c.4547C=
c.5320C= (p.Leu1774=)
c.5317C= (p.Leu1773=)
c.5272C= (p.Leu1758=)
c.4396C= (p.Leu1466=)
c.4165C= (p.Leu1389=)
10g.94298489C>GCA377641886PLCE1c.4354C>G (p.Leu1452Val)
c.*1821C>G (n.*1821C>G)
n.2013C>G
n.697C>G
c.*562C>G (n.*562C>G)
c.4306C>G (p.Leu1436Val)
n.9486C>G
n.2951C>G
c.5146C>G (p.Leu1716Val)
c.5230C>G (p.Leu1744Val)
c.5278C>G (p.Leu1760Val)
c.4252C>G (p.Leu1418Val)
c.3833C>G
c.3394C>G (p.Leu1132Val)
c.*1211C>G (n.*1211C>G)
c.4547C>G
c.5320C>G (p.Leu1774Val)
c.5317C>G (p.Leu1773Val)
c.5272C>G (p.Leu1758Val)
c.4396C>G (p.Leu1466Val)
c.4165C>G (p.Leu1389Val)
10g.94298489C>TCA5613327PLCE1c.4354C>T (p.Leu1452=)
c.*1821C>T (n.*1821C>T)
n.2013C>T
n.697C>T
c.*562C>T (n.*562C>T)
c.4306C>T (p.Leu1436=)
n.9486C>T
n.2951C>T
c.5146C>T (p.Leu1716=)
c.5230C>T (p.Leu1744=)
c.5278C>T (p.Leu1760=)
c.4252C>T (p.Leu1418=)
c.3833C>T
c.3394C>T (p.Leu1132=)
c.*1211C>T (n.*1211C>T)
c.4547C>T
c.5320C>T (p.Leu1774=)
c.5317C>T (p.Leu1773=)
c.5272C>T (p.Leu1758=)
c.4396C>T (p.Leu1466=)
c.4165C>T (p.Leu1389=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched