Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.94298499A=CA1928998416PLCE1c.4364A= (p.Asn1455=)
c.*1831A= (n.*1831A=)
n.2023A=
n.707A=
c.*572A= (n.*572A=)
c.4316A= (p.Asn1439=)
n.9496A=
n.2961A=
c.5156A= (p.Asn1719=)
c.5240A= (p.Asn1747=)
c.5288A= (p.Asn1763=)
c.4262A= (p.Asn1421=)
c.3843A=
c.3404A= (p.Asn1135=)
c.*1221A= (n.*1221A=)
c.4557A=
c.5330A= (p.Asn1777=)
c.5327A= (p.Asn1776=)
c.5282A= (p.Asn1761=)
c.4406A= (p.Asn1469=)
c.4175A= (p.Asn1392=)
10g.94298499A>CCA377641909PLCE1c.4364A>C (p.Asn1455Thr)
c.*1831A>C (n.*1831A>C)
n.2023A>C
n.707A>C
c.*572A>C (n.*572A>C)
c.4316A>C (p.Asn1439Thr)
n.9496A>C
n.2961A>C
c.5156A>C (p.Asn1719Thr)
c.5240A>C (p.Asn1747Thr)
c.5288A>C (p.Asn1763Thr)
c.4262A>C (p.Asn1421Thr)
c.3843A>C
c.3404A>C (p.Asn1135Thr)
c.*1221A>C (n.*1221A>C)
c.4557A>C
c.5330A>C (p.Asn1777Thr)
c.5327A>C (p.Asn1776Thr)
c.5282A>C (p.Asn1761Thr)
c.4406A>C (p.Asn1469Thr)
c.4175A>C (p.Asn1392Thr)
10g.94298499A>GCA377641910PLCE1c.4364A>G (p.Asn1455Ser)
c.*1831A>G (n.*1831A>G)
n.2023A>G
n.707A>G
c.*572A>G (n.*572A>G)
c.4316A>G (p.Asn1439Ser)
n.9496A>G
n.2961A>G
c.5156A>G (p.Asn1719Ser)
c.5240A>G (p.Asn1747Ser)
c.5288A>G (p.Asn1763Ser)
c.4262A>G (p.Asn1421Ser)
c.3843A>G
c.3404A>G (p.Asn1135Ser)
c.*1221A>G (n.*1221A>G)
c.4557A>G
c.5330A>G (p.Asn1777Ser)
c.5327A>G (p.Asn1776Ser)
c.5282A>G (p.Asn1761Ser)
c.4406A>G (p.Asn1469Ser)
c.4175A>G (p.Asn1392Ser)
10g.94298499A>TCA377641911PLCE1c.4364A>T (p.Asn1455Ile)
c.*1831A>T (n.*1831A>T)
n.2023A>T
n.707A>T
c.*572A>T (n.*572A>T)
c.4316A>T (p.Asn1439Ile)
n.9496A>T
n.2961A>T
c.5156A>T (p.Asn1719Ile)
c.5240A>T (p.Asn1747Ile)
c.5288A>T (p.Asn1763Ile)
c.4262A>T (p.Asn1421Ile)
c.3843A>T
c.3404A>T (p.Asn1135Ile)
c.*1221A>T (n.*1221A>T)
c.4557A>T
c.5330A>T (p.Asn1777Ile)
c.5327A>T (p.Asn1776Ile)
c.5282A>T (p.Asn1761Ile)
c.4406A>T (p.Asn1469Ile)
c.4175A>T (p.Asn1392Ile)
dbSNP gnomAD v3 gnomAD v4
10g.94298500T>ACA377641912PLCE1c.4365T>A (p.Asn1455Lys)
c.*1832T>A (n.*1832T>A)
n.2024T>A
n.708T>A
c.*573T>A (n.*573T>A)
c.4317T>A (p.Asn1439Lys)
n.9497T>A
n.2962T>A
c.5157T>A (p.Asn1719Lys)
c.5241T>A (p.Asn1747Lys)
c.5289T>A (p.Asn1763Lys)
c.4263T>A (p.Asn1421Lys)
c.3844T>A
c.3405T>A (p.Asn1135Lys)
c.*1222T>A (n.*1222T>A)
c.4558T>A
c.5331T>A (p.Asn1777Lys)
c.5328T>A (p.Asn1776Lys)
c.5283T>A (p.Asn1761Lys)
c.4407T>A (p.Asn1469Lys)
c.4176T>A (p.Asn1392Lys)
10g.94298500T>CCA470986507PLCE1c.4365T>C (p.Asn1455=)
c.*1832T>C (n.*1832T>C)
n.2024T>C
n.708T>C
c.*573T>C (n.*573T>C)
c.4317T>C (p.Asn1439=)
n.9497T>C
n.2962T>C
c.5157T>C (p.Asn1719=)
c.5241T>C (p.Asn1747=)
c.5289T>C (p.Asn1763=)
c.4263T>C (p.Asn1421=)
c.3844T>C
c.3405T>C (p.Asn1135=)
c.*1222T>C (n.*1222T>C)
c.4558T>C
c.5331T>C (p.Asn1777=)
c.5328T>C (p.Asn1776=)
c.5283T>C (p.Asn1761=)
c.4407T>C (p.Asn1469=)
c.4176T>C (p.Asn1392=)
10g.94298500T>GCA377641913PLCE1c.4365T>G (p.Asn1455Lys)
c.*1832T>G (n.*1832T>G)
n.2024T>G
n.708T>G
c.*573T>G (n.*573T>G)
c.4317T>G (p.Asn1439Lys)
n.9497T>G
n.2962T>G
c.5157T>G (p.Asn1719Lys)
c.5241T>G (p.Asn1747Lys)
c.5289T>G (p.Asn1763Lys)
c.4263T>G (p.Asn1421Lys)
c.3844T>G
c.3405T>G (p.Asn1135Lys)
c.*1222T>G (n.*1222T>G)
c.4558T>G
c.5331T>G (p.Asn1777Lys)
c.5328T>G (p.Asn1776Lys)
c.5283T>G (p.Asn1761Lys)
c.4407T>G (p.Asn1469Lys)
c.4176T>G (p.Asn1392Lys)
10g.94298501G>ACA377641915PLCE1c.4366G>A (p.Ala1456Thr)
c.*1833G>A (n.*1833G>A)
n.2025G>A
n.709G>A
c.*574G>A (n.*574G>A)
c.4318G>A (p.Ala1440Thr)
n.9498G>A
n.2963G>A
c.5158G>A (p.Ala1720Thr)
c.5242G>A (p.Ala1748Thr)
c.5290G>A (p.Ala1764Thr)
c.4264G>A (p.Ala1422Thr)
c.3845G>A
c.3406G>A (p.Ala1136Thr)
c.*1223G>A (n.*1223G>A)
c.4559G>A
c.5332G>A (p.Ala1778Thr)
c.5329G>A (p.Ala1777Thr)
c.5284G>A (p.Ala1762Thr)
c.4408G>A (p.Ala1470Thr)
c.4177G>A (p.Ala1393Thr)
10g.94298501G>CCA377641914PLCE1c.4366G>C (p.Ala1456Pro)
c.*1833G>C (n.*1833G>C)
n.2025G>C
n.709G>C
c.*574G>C (n.*574G>C)
c.4318G>C (p.Ala1440Pro)
n.9498G>C
n.2963G>C
c.5158G>C (p.Ala1720Pro)
c.5242G>C (p.Ala1748Pro)
c.5290G>C (p.Ala1764Pro)
c.4264G>C (p.Ala1422Pro)
c.3845G>C
c.3406G>C (p.Ala1136Pro)
c.*1223G>C (n.*1223G>C)
c.4559G>C
c.5332G>C (p.Ala1778Pro)
c.5329G>C (p.Ala1777Pro)
c.5284G>C (p.Ala1762Pro)
c.4408G>C (p.Ala1470Pro)
c.4177G>C (p.Ala1393Pro)
10g.94298501G=CA1928998417PLCE1c.4366G= (p.Ala1456=)
c.*1833G= (n.*1833G=)
n.2025G=
n.709G=
c.*574G= (n.*574G=)
c.4318G= (p.Ala1440=)
n.9498G=
n.2963G=
c.5158G= (p.Ala1720=)
c.5242G= (p.Ala1748=)
c.5290G= (p.Ala1764=)
c.4264G= (p.Ala1422=)
c.3845G=
c.3406G= (p.Ala1136=)
c.*1223G= (n.*1223G=)
c.4559G=
c.5332G= (p.Ala1778=)
c.5329G= (p.Ala1777=)
c.5284G= (p.Ala1762=)
c.4408G= (p.Ala1470=)
c.4177G= (p.Ala1393=)
10g.94298501G>TCA5613328PLCE1c.4366G>T (p.Ala1456Ser)
c.*1833G>T (n.*1833G>T)
n.2025G>T
n.709G>T
c.*574G>T (n.*574G>T)
c.4318G>T (p.Ala1440Ser)
n.9498G>T
n.2963G>T
c.5158G>T (p.Ala1720Ser)
c.5242G>T (p.Ala1748Ser)
c.5290G>T (p.Ala1764Ser)
c.4264G>T (p.Ala1422Ser)
c.3845G>T
c.3406G>T (p.Ala1136Ser)
c.*1223G>T (n.*1223G>T)
c.4559G>T
c.5332G>T (p.Ala1778Ser)
c.5329G>T (p.Ala1777Ser)
c.5284G>T (p.Ala1762Ser)
c.4408G>T (p.Ala1470Ser)
c.4177G>T (p.Ala1393Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.94298502C>ACA377641916PLCE1c.4367C>A (p.Ala1456Asp)
c.*1834C>A (n.*1834C>A)
n.2026C>A
n.710C>A
c.*575C>A (n.*575C>A)
c.4319C>A (p.Ala1440Asp)
n.9499C>A
n.2964C>A
c.5159C>A (p.Ala1720Asp)
c.5243C>A (p.Ala1748Asp)
c.5291C>A (p.Ala1764Asp)
c.4265C>A (p.Ala1422Asp)
c.3846C>A
c.3407C>A (p.Ala1136Asp)
c.*1224C>A (n.*1224C>A)
c.4560C>A
c.5333C>A (p.Ala1778Asp)
c.5330C>A (p.Ala1777Asp)
c.5285C>A (p.Ala1762Asp)
c.4409C>A (p.Ala1470Asp)
c.4178C>A (p.Ala1393Asp)
gnomAD v4
10g.94298502C>GCA377641917PLCE1c.4367C>G (p.Ala1456Gly)
c.*1834C>G (n.*1834C>G)
n.2026C>G
n.710C>G
c.*575C>G (n.*575C>G)
c.4319C>G (p.Ala1440Gly)
n.9499C>G
n.2964C>G
c.5159C>G (p.Ala1720Gly)
c.5243C>G (p.Ala1748Gly)
c.5291C>G (p.Ala1764Gly)
c.4265C>G (p.Ala1422Gly)
c.3846C>G
c.3407C>G (p.Ala1136Gly)
c.*1224C>G (n.*1224C>G)
c.4560C>G
c.5333C>G (p.Ala1778Gly)
c.5330C>G (p.Ala1777Gly)
c.5285C>G (p.Ala1762Gly)
c.4409C>G (p.Ala1470Gly)
c.4178C>G (p.Ala1393Gly)
10g.94298502C>TCA377641918PLCE1c.4367C>T (p.Ala1456Val)
c.*1834C>T (n.*1834C>T)
n.2026C>T
n.710C>T
c.*575C>T (n.*575C>T)
c.4319C>T (p.Ala1440Val)
n.9499C>T
n.2964C>T
c.5159C>T (p.Ala1720Val)
c.5243C>T (p.Ala1748Val)
c.5291C>T (p.Ala1764Val)
c.4265C>T (p.Ala1422Val)
c.3846C>T
c.3407C>T (p.Ala1136Val)
c.*1224C>T (n.*1224C>T)
c.4560C>T
c.5333C>T (p.Ala1778Val)
c.5330C>T (p.Ala1777Val)
c.5285C>T (p.Ala1762Val)
c.4409C>T (p.Ala1470Val)
c.4178C>T (p.Ala1393Val)
10g.94298502_94298503dupCA2610239641PLCE1c.4367_4368dup (p.Ala1457ProfsTer13)
c.*1834_*1835dup (n.*1834_*1835dup)
n.2026_2027dup
n.710_711dup
c.*575_*576dup (n.*575_*576dup)
c.4319_4320dup (p.Ala1441ProfsTer13)
n.9499_9500dup
n.2964_2965dup
c.5159_5160dup (p.Ala1721ProfsTer13)
c.5243_5244dup (p.Ala1749ProfsTer13)
c.5291_5292dup (p.Ala1765ProfsTer13)
c.4265_4266dup (p.Ala1423ProfsTer13)
c.3846_3847dup
c.3407_3408dup (p.Ala1137ProfsTer13)
c.*1224_*1225dup (n.*1224_*1225dup)
c.4560_4561dup
c.5333_5334dup (p.Ala1779ProfsTer13)
c.5330_5331dup (p.Ala1778ProfsTer13)
c.5285_5286dup (p.Ala1763ProfsTer13)
c.4409_4410dup (p.Ala1471ProfsTer13)
c.4178_4179dup (p.Ala1394ProfsTer13)
gnomAD v4
10g.94298503C>ACA5613329PLCE1c.4368C>A (p.Ala1456=)
c.*1835C>A (n.*1835C>A)
n.2027C>A
n.711C>A
c.*576C>A (n.*576C>A)
c.4320C>A (p.Ala1440=)
n.9500C>A
n.2965C>A
c.5160C>A (p.Ala1720=)
c.5244C>A (p.Ala1748=)
c.5292C>A (p.Ala1764=)
c.4266C>A (p.Ala1422=)
c.3847C>A
c.3408C>A (p.Ala1136=)
c.*1225C>A (n.*1225C>A)
c.4561C>A
c.5334C>A (p.Ala1778=)
c.5331C>A (p.Ala1777=)
c.5286C>A (p.Ala1762=)
c.4410C>A (p.Ala1470=)
c.4179C>A (p.Ala1393=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298503C=CA1928998418PLCE1c.4368C= (p.Ala1456=)
c.*1835C= (n.*1835C=)
n.2027C=
n.711C=
c.*576C= (n.*576C=)
c.4320C= (p.Ala1440=)
n.9500C=
n.2965C=
c.5160C= (p.Ala1720=)
c.5244C= (p.Ala1748=)
c.5292C= (p.Ala1764=)
c.4266C= (p.Ala1422=)
c.3847C=
c.3408C= (p.Ala1136=)
c.*1225C= (n.*1225C=)
c.4561C=
c.5334C= (p.Ala1778=)
c.5331C= (p.Ala1777=)
c.5286C= (p.Ala1762=)
c.4410C= (p.Ala1470=)
c.4179C= (p.Ala1393=)
10g.94298503C>GCA470986509PLCE1c.4368C>G (p.Ala1456=)
c.*1835C>G (n.*1835C>G)
n.2027C>G
n.711C>G
c.*576C>G (n.*576C>G)
c.4320C>G (p.Ala1440=)
n.9500C>G
n.2965C>G
c.5160C>G (p.Ala1720=)
c.5244C>G (p.Ala1748=)
c.5292C>G (p.Ala1764=)
c.4266C>G (p.Ala1422=)
c.3847C>G
c.3408C>G (p.Ala1136=)
c.*1225C>G (n.*1225C>G)
c.4561C>G
c.5334C>G (p.Ala1778=)
c.5331C>G (p.Ala1777=)
c.5286C>G (p.Ala1762=)
c.4410C>G (p.Ala1470=)
c.4179C>G (p.Ala1393=)
gnomAD v4
10g.94298503C>TCA470986510PLCE1c.4368C>T (p.Ala1456=)
c.*1835C>T (n.*1835C>T)
n.2027C>T
n.711C>T
c.*576C>T (n.*576C>T)
c.4320C>T (p.Ala1440=)
n.9500C>T
n.2965C>T
c.5160C>T (p.Ala1720=)
c.5244C>T (p.Ala1748=)
c.5292C>T (p.Ala1764=)
c.4266C>T (p.Ala1422=)
c.3847C>T
c.3408C>T (p.Ala1136=)
c.*1225C>T (n.*1225C>T)
c.4561C>T
c.5334C>T (p.Ala1778=)
c.5331C>T (p.Ala1777=)
c.5286C>T (p.Ala1762=)
c.4410C>T (p.Ala1470=)
c.4179C>T (p.Ala1393=)
dbSNP gnomAD v2 gnomAD v4
10g.94298504G>ACA5613330PLCE1c.4369G>A (p.Ala1457Thr)
c.*1836G>A (n.*1836G>A)
n.2028G>A
n.712G>A
c.*577G>A (n.*577G>A)
c.4321G>A (p.Ala1441Thr)
n.9501G>A
n.2966G>A
c.5161G>A (p.Ala1721Thr)
c.5245G>A (p.Ala1749Thr)
c.5293G>A (p.Ala1765Thr)
c.4267G>A (p.Ala1423Thr)
c.3848G>A
c.3409G>A (p.Ala1137Thr)
c.*1226G>A (n.*1226G>A)
c.4562G>A
c.5335G>A (p.Ala1779Thr)
c.5332G>A (p.Ala1778Thr)
c.5287G>A (p.Ala1763Thr)
c.4411G>A (p.Ala1471Thr)
c.4180G>A (p.Ala1394Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298504G>CCA377641919PLCE1c.4369G>C (p.Ala1457Pro)
c.*1836G>C (n.*1836G>C)
n.2028G>C
n.712G>C
c.*577G>C (n.*577G>C)
c.4321G>C (p.Ala1441Pro)
n.9501G>C
n.2966G>C
c.5161G>C (p.Ala1721Pro)
c.5245G>C (p.Ala1749Pro)
c.5293G>C (p.Ala1765Pro)
c.4267G>C (p.Ala1423Pro)
c.3848G>C
c.3409G>C (p.Ala1137Pro)
c.*1226G>C (n.*1226G>C)
c.4562G>C
c.5335G>C (p.Ala1779Pro)
c.5332G>C (p.Ala1778Pro)
c.5287G>C (p.Ala1763Pro)
c.4411G>C (p.Ala1471Pro)
c.4180G>C (p.Ala1394Pro)
10g.94298504G=CA1928998419PLCE1c.4369G= (p.Ala1457=)
c.*1836G= (n.*1836G=)
n.2028G=
n.712G=
c.*577G= (n.*577G=)
c.4321G= (p.Ala1441=)
n.9501G=
n.2966G=
c.5161G= (p.Ala1721=)
c.5245G= (p.Ala1749=)
c.5293G= (p.Ala1765=)
c.4267G= (p.Ala1423=)
c.3848G=
c.3409G= (p.Ala1137=)
c.*1226G= (n.*1226G=)
c.4562G=
c.5335G= (p.Ala1779=)
c.5332G= (p.Ala1778=)
c.5287G= (p.Ala1763=)
c.4411G= (p.Ala1471=)
c.4180G= (p.Ala1394=)
10g.94298504G>TCA377641920PLCE1c.4369G>T (p.Ala1457Ser)
c.*1836G>T (n.*1836G>T)
n.2028G>T
n.712G>T
c.*577G>T (n.*577G>T)
c.4321G>T (p.Ala1441Ser)
n.9501G>T
n.2966G>T
c.5161G>T (p.Ala1721Ser)
c.5245G>T (p.Ala1749Ser)
c.5293G>T (p.Ala1765Ser)
c.4267G>T (p.Ala1423Ser)
c.3848G>T
c.3409G>T (p.Ala1137Ser)
c.*1226G>T (n.*1226G>T)
c.4562G>T
c.5335G>T (p.Ala1779Ser)
c.5332G>T (p.Ala1778Ser)
c.5287G>T (p.Ala1763Ser)
c.4411G>T (p.Ala1471Ser)
c.4180G>T (p.Ala1394Ser)
10g.94298505C>ACA377641921PLCE1c.4370C>A (p.Ala1457Asp)
c.*1837C>A (n.*1837C>A)
n.2029C>A
n.713C>A
c.*578C>A (n.*578C>A)
c.4322C>A (p.Ala1441Asp)
n.9502C>A
n.2967C>A
c.5162C>A (p.Ala1721Asp)
c.5246C>A (p.Ala1749Asp)
c.5294C>A (p.Ala1765Asp)
c.4268C>A (p.Ala1423Asp)
c.3849C>A
c.3410C>A (p.Ala1137Asp)
c.*1227C>A (n.*1227C>A)
c.4563C>A
c.5336C>A (p.Ala1779Asp)
c.5333C>A (p.Ala1778Asp)
c.5288C>A (p.Ala1763Asp)
c.4412C>A (p.Ala1471Asp)
c.4181C>A (p.Ala1394Asp)
10g.94298505C>GCA377641922PLCE1c.4370C>G (p.Ala1457Gly)
c.*1837C>G (n.*1837C>G)
n.2029C>G
n.713C>G
c.*578C>G (n.*578C>G)
c.4322C>G (p.Ala1441Gly)
n.9502C>G
n.2967C>G
c.5162C>G (p.Ala1721Gly)
c.5246C>G (p.Ala1749Gly)
c.5294C>G (p.Ala1765Gly)
c.4268C>G (p.Ala1423Gly)
c.3849C>G
c.3410C>G (p.Ala1137Gly)
c.*1227C>G (n.*1227C>G)
c.4563C>G
c.5336C>G (p.Ala1779Gly)
c.5333C>G (p.Ala1778Gly)
c.5288C>G (p.Ala1763Gly)
c.4412C>G (p.Ala1471Gly)
c.4181C>G (p.Ala1394Gly)
10g.94298505C>TCA377641923PLCE1c.4370C>T (p.Ala1457Val)
c.*1837C>T (n.*1837C>T)
n.2029C>T
n.713C>T
c.*578C>T (n.*578C>T)
c.4322C>T (p.Ala1441Val)
n.9502C>T
n.2967C>T
c.5162C>T (p.Ala1721Val)
c.5246C>T (p.Ala1749Val)
c.5294C>T (p.Ala1765Val)
c.4268C>T (p.Ala1423Val)
c.3849C>T
c.3410C>T (p.Ala1137Val)
c.*1227C>T (n.*1227C>T)
c.4563C>T
c.5336C>T (p.Ala1779Val)
c.5333C>T (p.Ala1778Val)
c.5288C>T (p.Ala1763Val)
c.4412C>T (p.Ala1471Val)
c.4181C>T (p.Ala1394Val)
10g.94298506C>ACA470986513PLCE1c.4371C>A (p.Ala1457=)
c.*1838C>A (n.*1838C>A)
n.2030C>A
n.714C>A
c.*579C>A (n.*579C>A)
c.4323C>A (p.Ala1441=)
n.9503C>A
n.2968C>A
c.5163C>A (p.Ala1721=)
c.5247C>A (p.Ala1749=)
c.5295C>A (p.Ala1765=)
c.4269C>A (p.Ala1423=)
c.3850C>A
c.3411C>A (p.Ala1137=)
c.*1228C>A (n.*1228C>A)
c.4564C>A
c.5337C>A (p.Ala1779=)
c.5334C>A (p.Ala1778=)
c.5289C>A (p.Ala1763=)
c.4413C>A (p.Ala1471=)
c.4182C>A (p.Ala1394=)
10g.94298506C>GCA470986514PLCE1c.4371C>G (p.Ala1457=)
c.*1838C>G (n.*1838C>G)
n.2030C>G
n.714C>G
c.*579C>G (n.*579C>G)
c.4323C>G (p.Ala1441=)
n.9503C>G
n.2968C>G
c.5163C>G (p.Ala1721=)
c.5247C>G (p.Ala1749=)
c.5295C>G (p.Ala1765=)
c.4269C>G (p.Ala1423=)
c.3850C>G
c.3411C>G (p.Ala1137=)
c.*1228C>G (n.*1228C>G)
c.4564C>G
c.5337C>G (p.Ala1779=)
c.5334C>G (p.Ala1778=)
c.5289C>G (p.Ala1763=)
c.4413C>G (p.Ala1471=)
c.4182C>G (p.Ala1394=)
10g.94298506C>TCA470986515PLCE1c.4371C>T (p.Ala1457=)
c.*1838C>T (n.*1838C>T)
n.2030C>T
n.714C>T
c.*579C>T (n.*579C>T)
c.4323C>T (p.Ala1441=)
n.9503C>T
n.2968C>T
c.5163C>T (p.Ala1721=)
c.5247C>T (p.Ala1749=)
c.5295C>T (p.Ala1765=)
c.4269C>T (p.Ala1423=)
c.3850C>T
c.3411C>T (p.Ala1137=)
c.*1228C>T (n.*1228C>T)
c.4564C>T
c.5337C>T (p.Ala1779=)
c.5334C>T (p.Ala1778=)
c.5289C>T (p.Ala1763=)
c.4413C>T (p.Ala1471=)
c.4182C>T (p.Ala1394=)
gnomAD v4
10g.94298507A>CCA377641924PLCE1c.4372A>C (p.Lys1458Gln)
c.*1839A>C (n.*1839A>C)
n.2031A>C
n.715A>C
c.*580A>C (n.*580A>C)
c.4324A>C (p.Lys1442Gln)
n.9504A>C
n.2969A>C
c.5164A>C (p.Lys1722Gln)
c.5248A>C (p.Lys1750Gln)
c.5296A>C (p.Lys1766Gln)
c.4270A>C (p.Lys1424Gln)
c.3851A>C
c.3412A>C (p.Lys1138Gln)
c.*1229A>C (n.*1229A>C)
c.4565A>C
c.5338A>C (p.Lys1780Gln)
c.5335A>C (p.Lys1779Gln)
c.5290A>C (p.Lys1764Gln)
c.4414A>C (p.Lys1472Gln)
c.4183A>C (p.Lys1395Gln)
10g.94298507A>GCA377641925PLCE1c.4372A>G (p.Lys1458Glu)
c.*1839A>G (n.*1839A>G)
n.2031A>G
n.715A>G
c.*580A>G (n.*580A>G)
c.4324A>G (p.Lys1442Glu)
n.9504A>G
n.2969A>G
c.5164A>G (p.Lys1722Glu)
c.5248A>G (p.Lys1750Glu)
c.5296A>G (p.Lys1766Glu)
c.4270A>G (p.Lys1424Glu)
c.3851A>G
c.3412A>G (p.Lys1138Glu)
c.*1229A>G (n.*1229A>G)
c.4565A>G
c.5338A>G (p.Lys1780Glu)
c.5335A>G (p.Lys1779Glu)
c.5290A>G (p.Lys1764Glu)
c.4414A>G (p.Lys1472Glu)
c.4183A>G (p.Lys1395Glu)
10g.94298507A>TCA377641926PLCE1c.4372A>T (p.Lys1458Ter)
c.*1839A>T (n.*1839A>T)
n.2031A>T
n.715A>T
c.*580A>T (n.*580A>T)
c.4324A>T (p.Lys1442Ter)
n.9504A>T
n.2969A>T
c.5164A>T (p.Lys1722Ter)
c.5248A>T (p.Lys1750Ter)
c.5296A>T (p.Lys1766Ter)
c.4270A>T (p.Lys1424Ter)
c.3851A>T
c.3412A>T (p.Lys1138Ter)
c.*1229A>T (n.*1229A>T)
c.4565A>T
c.5338A>T (p.Lys1780Ter)
c.5335A>T (p.Lys1779Ter)
c.5290A>T (p.Lys1764Ter)
c.4414A>T (p.Lys1472Ter)
c.4183A>T (p.Lys1395Ter)
10g.94298508A>CCA377641927PLCE1c.4373A>C (p.Lys1458Thr)
c.*1840A>C (n.*1840A>C)
n.2032A>C
n.716A>C
c.*581A>C (n.*581A>C)
c.4325A>C (p.Lys1442Thr)
n.9505A>C
n.2970A>C
c.5165A>C (p.Lys1722Thr)
c.5249A>C (p.Lys1750Thr)
c.5297A>C (p.Lys1766Thr)
c.4271A>C (p.Lys1424Thr)
c.3852A>C
c.3413A>C (p.Lys1138Thr)
c.*1230A>C (n.*1230A>C)
c.4566A>C
c.5339A>C (p.Lys1780Thr)
c.5336A>C (p.Lys1779Thr)
c.5291A>C (p.Lys1764Thr)
c.4415A>C (p.Lys1472Thr)
c.4184A>C (p.Lys1395Thr)
10g.94298508A>GCA377641929PLCE1c.4373A>G (p.Lys1458Arg)
c.*1840A>G (n.*1840A>G)
n.2032A>G
n.716A>G
c.*581A>G (n.*581A>G)
c.4325A>G (p.Lys1442Arg)
n.9505A>G
n.2970A>G
c.5165A>G (p.Lys1722Arg)
c.5249A>G (p.Lys1750Arg)
c.5297A>G (p.Lys1766Arg)
c.4271A>G (p.Lys1424Arg)
c.3852A>G
c.3413A>G (p.Lys1138Arg)
c.*1230A>G (n.*1230A>G)
c.4566A>G
c.5339A>G (p.Lys1780Arg)
c.5336A>G (p.Lys1779Arg)
c.5291A>G (p.Lys1764Arg)
c.4415A>G (p.Lys1472Arg)
c.4184A>G (p.Lys1395Arg)
10g.94298508A>TCA377641928PLCE1c.4373A>T (p.Lys1458Ile)
c.*1840A>T (n.*1840A>T)
n.2032A>T
n.716A>T
c.*581A>T (n.*581A>T)
c.4325A>T (p.Lys1442Ile)
n.9505A>T
n.2970A>T
c.5165A>T (p.Lys1722Ile)
c.5249A>T (p.Lys1750Ile)
c.5297A>T (p.Lys1766Ile)
c.4271A>T (p.Lys1424Ile)
c.3852A>T
c.3413A>T (p.Lys1138Ile)
c.*1230A>T (n.*1230A>T)
c.4566A>T
c.5339A>T (p.Lys1780Ile)
c.5336A>T (p.Lys1779Ile)
c.5291A>T (p.Lys1764Ile)
c.4415A>T (p.Lys1472Ile)
c.4184A>T (p.Lys1395Ile)
10g.94298509A>CCA377641930PLCE1c.4374A>C (p.Lys1458Asn)
c.*1841A>C (n.*1841A>C)
n.2033A>C
n.717A>C
c.*582A>C (n.*582A>C)
c.4326A>C (p.Lys1442Asn)
n.9506A>C
n.2971A>C
c.5166A>C (p.Lys1722Asn)
c.5250A>C (p.Lys1750Asn)
c.5298A>C (p.Lys1766Asn)
c.4272A>C (p.Lys1424Asn)
c.3853A>C
c.3414A>C (p.Lys1138Asn)
c.*1231A>C (n.*1231A>C)
c.4567A>C
c.5340A>C (p.Lys1780Asn)
c.5337A>C (p.Lys1779Asn)
c.5292A>C (p.Lys1764Asn)
c.4416A>C (p.Lys1472Asn)
c.4185A>C (p.Lys1395Asn)
10g.94298509A>GCA470986519PLCE1c.4374A>G (p.Lys1458=)
c.*1841A>G (n.*1841A>G)
n.2033A>G
n.717A>G
c.*582A>G (n.*582A>G)
c.4326A>G (p.Lys1442=)
n.9506A>G
n.2971A>G
c.5166A>G (p.Lys1722=)
c.5250A>G (p.Lys1750=)
c.5298A>G (p.Lys1766=)
c.4272A>G (p.Lys1424=)
c.3853A>G
c.3414A>G (p.Lys1138=)
c.*1231A>G (n.*1231A>G)
c.4567A>G
c.5340A>G (p.Lys1780=)
c.5337A>G (p.Lys1779=)
c.5292A>G (p.Lys1764=)
c.4416A>G (p.Lys1472=)
c.4185A>G (p.Lys1395=)
10g.94298509A>TCA377641931PLCE1c.4374A>T (p.Lys1458Asn)
c.*1841A>T (n.*1841A>T)
n.2033A>T
n.717A>T
c.*582A>T (n.*582A>T)
c.4326A>T (p.Lys1442Asn)
n.9506A>T
n.2971A>T
c.5166A>T (p.Lys1722Asn)
c.5250A>T (p.Lys1750Asn)
c.5298A>T (p.Lys1766Asn)
c.4272A>T (p.Lys1424Asn)
c.3853A>T
c.3414A>T (p.Lys1138Asn)
c.*1231A>T (n.*1231A>T)
c.4567A>T
c.5340A>T (p.Lys1780Asn)
c.5337A>T (p.Lys1779Asn)
c.5292A>T (p.Lys1764Asn)
c.4416A>T (p.Lys1472Asn)
c.4185A>T (p.Lys1395Asn)
10g.94298510C>ACA377641932PLCE1c.4375C>A (p.Arg1459Ser)
c.*1842C>A (n.*1842C>A)
n.2034C>A
n.718C>A
c.*583C>A (n.*583C>A)
c.4327C>A (p.Arg1443Ser)
n.9507C>A
n.2972C>A
c.5167C>A (p.Arg1723Ser)
c.5251C>A (p.Arg1751Ser)
c.5299C>A (p.Arg1767Ser)
c.4273C>A (p.Arg1425Ser)
c.3854C>A
c.3415C>A (p.Arg1139Ser)
c.*1232C>A (n.*1232C>A)
c.4568C>A
c.5341C>A (p.Arg1781Ser)
c.5338C>A (p.Arg1780Ser)
c.5293C>A (p.Arg1765Ser)
c.4417C>A (p.Arg1473Ser)
c.4186C>A (p.Arg1396Ser)
10g.94298510C>GCA377641933PLCE1c.4375C>G (p.Arg1459Gly)
c.*1842C>G (n.*1842C>G)
n.2034C>G
n.718C>G
c.*583C>G (n.*583C>G)
c.4327C>G (p.Arg1443Gly)
n.9507C>G
n.2972C>G
c.5167C>G (p.Arg1723Gly)
c.5251C>G (p.Arg1751Gly)
c.5299C>G (p.Arg1767Gly)
c.4273C>G (p.Arg1425Gly)
c.3854C>G
c.3415C>G (p.Arg1139Gly)
c.*1232C>G (n.*1232C>G)
c.4568C>G
c.5341C>G (p.Arg1781Gly)
c.5338C>G (p.Arg1780Gly)
c.5293C>G (p.Arg1765Gly)
c.4417C>G (p.Arg1473Gly)
c.4186C>G (p.Arg1396Gly)
10g.94298510C>TCA377641934PLCE1c.4375C>T (p.Arg1459Cys)
c.*1842C>T (n.*1842C>T)
n.2034C>T
n.718C>T
c.*583C>T (n.*583C>T)
c.4327C>T (p.Arg1443Cys)
n.9507C>T
n.2972C>T
c.5167C>T (p.Arg1723Cys)
c.5251C>T (p.Arg1751Cys)
c.5299C>T (p.Arg1767Cys)
c.4273C>T (p.Arg1425Cys)
c.3854C>T
c.3415C>T (p.Arg1139Cys)
c.*1232C>T (n.*1232C>T)
c.4568C>T
c.5341C>T (p.Arg1781Cys)
c.5338C>T (p.Arg1780Cys)
c.5293C>T (p.Arg1765Cys)
c.4417C>T (p.Arg1473Cys)
c.4186C>T (p.Arg1396Cys)
dbSNP gnomAD v4
10g.94298511G>ACA5613331PLCE1c.4376G>A (p.Arg1459His)
c.*1843G>A (n.*1843G>A)
n.2035G>A
n.719G>A
c.*584G>A (n.*584G>A)
c.4328G>A (p.Arg1443His)
n.9508G>A
n.2973G>A
c.5168G>A (p.Arg1723His)
c.5252G>A (p.Arg1751His)
c.5300G>A (p.Arg1767His)
c.4274G>A (p.Arg1425His)
c.3855G>A
c.3416G>A (p.Arg1139His)
c.*1233G>A (n.*1233G>A)
c.4569G>A
c.5342G>A (p.Arg1781His)
c.5339G>A (p.Arg1780His)
c.5294G>A (p.Arg1765His)
c.4418G>A (p.Arg1473His)
c.4187G>A (p.Arg1396His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298511G>CCA377641935PLCE1c.4376G>C (p.Arg1459Pro)
c.*1843G>C (n.*1843G>C)
n.2035G>C
n.719G>C
c.*584G>C (n.*584G>C)
c.4328G>C (p.Arg1443Pro)
n.9508G>C
n.2973G>C
c.5168G>C (p.Arg1723Pro)
c.5252G>C (p.Arg1751Pro)
c.5300G>C (p.Arg1767Pro)
c.4274G>C (p.Arg1425Pro)
c.3855G>C
c.3416G>C (p.Arg1139Pro)
c.*1233G>C (n.*1233G>C)
c.4569G>C
c.5342G>C (p.Arg1781Pro)
c.5339G>C (p.Arg1780Pro)
c.5294G>C (p.Arg1765Pro)
c.4418G>C (p.Arg1473Pro)
c.4187G>C (p.Arg1396Pro)
10g.94298511G=CA1928998420PLCE1c.4376G= (p.Arg1459=)
c.*1843G= (n.*1843G=)
n.2035G=
n.719G=
c.*584G= (n.*584G=)
c.4328G= (p.Arg1443=)
n.9508G=
n.2973G=
c.5168G= (p.Arg1723=)
c.5252G= (p.Arg1751=)
c.5300G= (p.Arg1767=)
c.4274G= (p.Arg1425=)
c.3855G=
c.3416G= (p.Arg1139=)
c.*1233G= (n.*1233G=)
c.4569G=
c.5342G= (p.Arg1781=)
c.5339G= (p.Arg1780=)
c.5294G= (p.Arg1765=)
c.4418G= (p.Arg1473=)
c.4187G= (p.Arg1396=)
10g.94298511G>TCA377641936PLCE1c.4376G>T (p.Arg1459Leu)
c.*1843G>T (n.*1843G>T)
n.2035G>T
n.719G>T
c.*584G>T (n.*584G>T)
c.4328G>T (p.Arg1443Leu)
n.9508G>T
n.2973G>T
c.5168G>T (p.Arg1723Leu)
c.5252G>T (p.Arg1751Leu)
c.5300G>T (p.Arg1767Leu)
c.4274G>T (p.Arg1425Leu)
c.3855G>T
c.3416G>T (p.Arg1139Leu)
c.*1233G>T (n.*1233G>T)
c.4569G>T
c.5342G>T (p.Arg1781Leu)
c.5339G>T (p.Arg1780Leu)
c.5294G>T (p.Arg1765Leu)
c.4418G>T (p.Arg1473Leu)
c.4187G>T (p.Arg1396Leu)
gnomAD v4
10g.94298512T>ACA5613332PLCE1c.4377T>A (p.Arg1459=)
c.*1844T>A (n.*1844T>A)
n.2036T>A
n.720T>A
c.*585T>A (n.*585T>A)
c.4329T>A (p.Arg1443=)
n.9509T>A
n.2974T>A
c.5169T>A (p.Arg1723=)
c.5253T>A (p.Arg1751=)
c.5301T>A (p.Arg1767=)
c.4275T>A (p.Arg1425=)
c.3856T>A
c.3417T>A (p.Arg1139=)
c.*1234T>A (n.*1234T>A)
c.4570T>A
c.5343T>A (p.Arg1781=)
c.5340T>A (p.Arg1780=)
c.5295T>A (p.Arg1765=)
c.4419T>A (p.Arg1473=)
c.4188T>A (p.Arg1396=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298512T>CCA470986521PLCE1c.4377T>C (p.Arg1459=)
c.*1844T>C (n.*1844T>C)
n.2036T>C
n.720T>C
c.*585T>C (n.*585T>C)
c.4329T>C (p.Arg1443=)
n.9509T>C
n.2974T>C
c.5169T>C (p.Arg1723=)
c.5253T>C (p.Arg1751=)
c.5301T>C (p.Arg1767=)
c.4275T>C (p.Arg1425=)
c.3856T>C
c.3417T>C (p.Arg1139=)
c.*1234T>C (n.*1234T>C)
c.4570T>C
c.5343T>C (p.Arg1781=)
c.5340T>C (p.Arg1780=)
c.5295T>C (p.Arg1765=)
c.4419T>C (p.Arg1473=)
c.4188T>C (p.Arg1396=)
10g.94298512T>GCA470986522PLCE1c.4377T>G (p.Arg1459=)
c.*1844T>G (n.*1844T>G)
n.2036T>G
n.720T>G
c.*585T>G (n.*585T>G)
c.4329T>G (p.Arg1443=)
n.9509T>G
n.2974T>G
c.5169T>G (p.Arg1723=)
c.5253T>G (p.Arg1751=)
c.5301T>G (p.Arg1767=)
c.4275T>G (p.Arg1425=)
c.3856T>G
c.3417T>G (p.Arg1139=)
c.*1234T>G (n.*1234T>G)
c.4570T>G
c.5343T>G (p.Arg1781=)
c.5340T>G (p.Arg1780=)
c.5295T>G (p.Arg1765=)
c.4419T>G (p.Arg1473=)
c.4188T>G (p.Arg1396=)
10g.94298512T=CA1928998421PLCE1c.4377T= (p.Arg1459=)
c.*1844T= (n.*1844T=)
n.2036T=
n.720T=
c.*585T= (n.*585T=)
c.4329T= (p.Arg1443=)
n.9509T=
n.2974T=
c.5169T= (p.Arg1723=)
c.5253T= (p.Arg1751=)
c.5301T= (p.Arg1767=)
c.4275T= (p.Arg1425=)
c.3856T=
c.3417T= (p.Arg1139=)
c.*1234T= (n.*1234T=)
c.4570T=
c.5343T= (p.Arg1781=)
c.5340T= (p.Arg1780=)
c.5295T= (p.Arg1765=)
c.4419T= (p.Arg1473=)
c.4188T= (p.Arg1396=)
10g.94298513C>ACA377641937PLCE1c.4378C>A (p.Leu1460Met)
c.*1845C>A (n.*1845C>A)
n.2037C>A
n.721C>A
c.*586C>A (n.*586C>A)
c.4330C>A (p.Leu1444Met)
n.9510C>A
n.2975C>A
c.5170C>A (p.Leu1724Met)
c.5254C>A (p.Leu1752Met)
c.5302C>A (p.Leu1768Met)
c.4276C>A (p.Leu1426Met)
c.3857C>A
c.3418C>A (p.Leu1140Met)
c.*1235C>A (n.*1235C>A)
c.4571C>A
c.5344C>A (p.Leu1782Met)
c.5341C>A (p.Leu1781Met)
c.5296C>A (p.Leu1766Met)
c.4420C>A (p.Leu1474Met)
c.4189C>A (p.Leu1397Met)
10g.94298513C>GCA377641938PLCE1c.4378C>G (p.Leu1460Val)
c.*1845C>G (n.*1845C>G)
n.2037C>G
n.721C>G
c.*586C>G (n.*586C>G)
c.4330C>G (p.Leu1444Val)
n.9510C>G
n.2975C>G
c.5170C>G (p.Leu1724Val)
c.5254C>G (p.Leu1752Val)
c.5302C>G (p.Leu1768Val)
c.4276C>G (p.Leu1426Val)
c.3857C>G
c.3418C>G (p.Leu1140Val)
c.*1235C>G (n.*1235C>G)
c.4571C>G
c.5344C>G (p.Leu1782Val)
c.5341C>G (p.Leu1781Val)
c.5296C>G (p.Leu1766Val)
c.4420C>G (p.Leu1474Val)
c.4189C>G (p.Leu1397Val)
gnomAD v4
10g.94298513C>TCA470986523PLCE1c.4378C>T (p.Leu1460=)
c.*1845C>T (n.*1845C>T)
n.2037C>T
n.721C>T
c.*586C>T (n.*586C>T)
c.4330C>T (p.Leu1444=)
n.9510C>T
n.2975C>T
c.5170C>T (p.Leu1724=)
c.5254C>T (p.Leu1752=)
c.5302C>T (p.Leu1768=)
c.4276C>T (p.Leu1426=)
c.3857C>T
c.3418C>T (p.Leu1140=)
c.*1235C>T (n.*1235C>T)
c.4571C>T
c.5344C>T (p.Leu1782=)
c.5341C>T (p.Leu1781=)
c.5296C>T (p.Leu1766=)
c.4420C>T (p.Leu1474=)
c.4189C>T (p.Leu1397=)
gnomAD v4
10g.94298514T>ACA377641940PLCE1c.4379T>A (p.Leu1460Gln)
c.*1846T>A (n.*1846T>A)
n.2038T>A
n.722T>A
c.*587T>A (n.*587T>A)
c.4331T>A (p.Leu1444Gln)
n.9511T>A
n.2976T>A
c.5171T>A (p.Leu1724Gln)
c.5255T>A (p.Leu1752Gln)
c.5303T>A (p.Leu1768Gln)
c.4277T>A (p.Leu1426Gln)
c.3858T>A
c.3419T>A (p.Leu1140Gln)
c.*1236T>A (n.*1236T>A)
c.4572T>A
c.5345T>A (p.Leu1782Gln)
c.5342T>A (p.Leu1781Gln)
c.5297T>A (p.Leu1766Gln)
c.4421T>A (p.Leu1474Gln)
c.4190T>A (p.Leu1397Gln)
10g.94298514T>CCA377641941PLCE1c.4379T>C (p.Leu1460Pro)
c.*1846T>C (n.*1846T>C)
n.2038T>C
n.722T>C
c.*587T>C (n.*587T>C)
c.4331T>C (p.Leu1444Pro)
n.9511T>C
n.2976T>C
c.5171T>C (p.Leu1724Pro)
c.5255T>C (p.Leu1752Pro)
c.5303T>C (p.Leu1768Pro)
c.4277T>C (p.Leu1426Pro)
c.3858T>C
c.3419T>C (p.Leu1140Pro)
c.*1236T>C (n.*1236T>C)
c.4572T>C
c.5345T>C (p.Leu1782Pro)
c.5342T>C (p.Leu1781Pro)
c.5297T>C (p.Leu1766Pro)
c.4421T>C (p.Leu1474Pro)
c.4190T>C (p.Leu1397Pro)
10g.94298514T>GCA377641939PLCE1c.4379T>G (p.Leu1460Arg)
c.*1846T>G (n.*1846T>G)
n.2038T>G
n.722T>G
c.*587T>G (n.*587T>G)
c.4331T>G (p.Leu1444Arg)
n.9511T>G
n.2976T>G
c.5171T>G (p.Leu1724Arg)
c.5255T>G (p.Leu1752Arg)
c.5303T>G (p.Leu1768Arg)
c.4277T>G (p.Leu1426Arg)
c.3858T>G
c.3419T>G (p.Leu1140Arg)
c.*1236T>G (n.*1236T>G)
c.4572T>G
c.5345T>G (p.Leu1782Arg)
c.5342T>G (p.Leu1781Arg)
c.5297T>G (p.Leu1766Arg)
c.4421T>G (p.Leu1474Arg)
c.4190T>G (p.Leu1397Arg)
10g.94298515G>ACA470986525PLCE1c.4380G>A (p.Leu1460=)
c.*1847G>A (n.*1847G>A)
n.2039G>A
n.723G>A
c.*588G>A (n.*588G>A)
c.4332G>A (p.Leu1444=)
n.9512G>A
n.2977G>A
c.5172G>A (p.Leu1724=)
c.5256G>A (p.Leu1752=)
c.5304G>A (p.Leu1768=)
c.4278G>A (p.Leu1426=)
c.3859G>A
c.3420G>A (p.Leu1140=)
c.*1237G>A (n.*1237G>A)
c.4573G>A
c.5346G>A (p.Leu1782=)
c.5343G>A (p.Leu1781=)
c.5298G>A (p.Leu1766=)
c.4422G>A (p.Leu1474=)
c.4191G>A (p.Leu1397=)
gnomAD v4
10g.94298515G>CCA5613333PLCE1c.4380G>C (p.Leu1460=)
c.*1847G>C (n.*1847G>C)
n.2039G>C
n.723G>C
c.*588G>C (n.*588G>C)
c.4332G>C (p.Leu1444=)
n.9512G>C
n.2977G>C
c.5172G>C (p.Leu1724=)
c.5256G>C (p.Leu1752=)
c.5304G>C (p.Leu1768=)
c.4278G>C (p.Leu1426=)
c.3859G>C
c.3420G>C (p.Leu1140=)
c.*1237G>C (n.*1237G>C)
c.4573G>C
c.5346G>C (p.Leu1782=)
c.5343G>C (p.Leu1781=)
c.5298G>C (p.Leu1766=)
c.4422G>C (p.Leu1474=)
c.4191G>C (p.Leu1397=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298515G=CA1928998422PLCE1c.4380G= (p.Leu1460=)
c.*1847G= (n.*1847G=)
n.2039G=
n.723G=
c.*588G= (n.*588G=)
c.4332G= (p.Leu1444=)
n.9512G=
n.2977G=
c.5172G= (p.Leu1724=)
c.5256G= (p.Leu1752=)
c.5304G= (p.Leu1768=)
c.4278G= (p.Leu1426=)
c.3859G=
c.3420G= (p.Leu1140=)
c.*1237G= (n.*1237G=)
c.4573G=
c.5346G= (p.Leu1782=)
c.5343G= (p.Leu1781=)
c.5298G= (p.Leu1766=)
c.4422G= (p.Leu1474=)
c.4191G= (p.Leu1397=)
10g.94298515G>TCA470986526PLCE1c.4380G>T (p.Leu1460=)
c.*1847G>T (n.*1847G>T)
n.2039G>T
n.723G>T
c.*588G>T (n.*588G>T)
c.4332G>T (p.Leu1444=)
n.9512G>T
n.2977G>T
c.5172G>T (p.Leu1724=)
c.5256G>T (p.Leu1752=)
c.5304G>T (p.Leu1768=)
c.4278G>T (p.Leu1426=)
c.3859G>T
c.3420G>T (p.Leu1140=)
c.*1237G>T (n.*1237G>T)
c.4573G>T
c.5346G>T (p.Leu1782=)
c.5343G>T (p.Leu1781=)
c.5298G>T (p.Leu1766=)
c.4422G>T (p.Leu1474=)
c.4191G>T (p.Leu1397=)
10g.94298516T>ACA377641942PLCE1c.4381T>A (p.Cys1461Ser)
c.*1848T>A (n.*1848T>A)
n.2040T>A
n.724T>A
c.*589T>A (n.*589T>A)
c.4333T>A (p.Cys1445Ser)
n.9513T>A
n.2978T>A
c.5173T>A (p.Cys1725Ser)
c.5257T>A (p.Cys1753Ser)
c.5305T>A (p.Cys1769Ser)
c.4279T>A (p.Cys1427Ser)
c.3860T>A
c.3421T>A (p.Cys1141Ser)
c.*1238T>A (n.*1238T>A)
c.4574T>A
c.5347T>A (p.Cys1783Ser)
c.5344T>A (p.Cys1782Ser)
c.5299T>A (p.Cys1767Ser)
c.4423T>A (p.Cys1475Ser)
c.4192T>A (p.Cys1398Ser)
10g.94298516T>CCA377641943PLCE1c.4381T>C (p.Cys1461Arg)
c.*1848T>C (n.*1848T>C)
n.2040T>C
n.724T>C
c.*589T>C (n.*589T>C)
c.4333T>C (p.Cys1445Arg)
n.9513T>C
n.2978T>C
c.5173T>C (p.Cys1725Arg)
c.5257T>C (p.Cys1753Arg)
c.5305T>C (p.Cys1769Arg)
c.4279T>C (p.Cys1427Arg)
c.3860T>C
c.3421T>C (p.Cys1141Arg)
c.*1238T>C (n.*1238T>C)
c.4574T>C
c.5347T>C (p.Cys1783Arg)
c.5344T>C (p.Cys1782Arg)
c.5299T>C (p.Cys1767Arg)
c.4423T>C (p.Cys1475Arg)
c.4192T>C (p.Cys1398Arg)
10g.94298516T>GCA377641944PLCE1c.4381T>G (p.Cys1461Gly)
c.*1848T>G (n.*1848T>G)
n.2040T>G
n.724T>G
c.*589T>G (n.*589T>G)
c.4333T>G (p.Cys1445Gly)
n.9513T>G
n.2978T>G
c.5173T>G (p.Cys1725Gly)
c.5257T>G (p.Cys1753Gly)
c.5305T>G (p.Cys1769Gly)
c.4279T>G (p.Cys1427Gly)
c.3860T>G
c.3421T>G (p.Cys1141Gly)
c.*1238T>G (n.*1238T>G)
c.4574T>G
c.5347T>G (p.Cys1783Gly)
c.5344T>G (p.Cys1782Gly)
c.5299T>G (p.Cys1767Gly)
c.4423T>G (p.Cys1475Gly)
c.4192T>G (p.Cys1398Gly)
10g.94298517G>ACA377641945PLCE1c.4382G>A (p.Cys1461Tyr)
c.*1849G>A (n.*1849G>A)
n.2041G>A
n.725G>A
c.*590G>A (n.*590G>A)
c.4334G>A (p.Cys1445Tyr)
n.9514G>A
n.2979G>A
c.5174G>A (p.Cys1725Tyr)
c.5258G>A (p.Cys1753Tyr)
c.5306G>A (p.Cys1769Tyr)
c.4280G>A (p.Cys1427Tyr)
c.3861G>A
c.3422G>A (p.Cys1141Tyr)
c.*1239G>A (n.*1239G>A)
c.4575G>A
c.5348G>A (p.Cys1783Tyr)
c.5345G>A (p.Cys1782Tyr)
c.5300G>A (p.Cys1767Tyr)
c.4424G>A (p.Cys1475Tyr)
c.4193G>A (p.Cys1398Tyr)
gnomAD v4
10g.94298517G>CCA377641946PLCE1c.4382G>C (p.Cys1461Ser)
c.*1849G>C (n.*1849G>C)
n.2041G>C
n.725G>C
c.*590G>C (n.*590G>C)
c.4334G>C (p.Cys1445Ser)
n.9514G>C
n.2979G>C
c.5174G>C (p.Cys1725Ser)
c.5258G>C (p.Cys1753Ser)
c.5306G>C (p.Cys1769Ser)
c.4280G>C (p.Cys1427Ser)
c.3861G>C
c.3422G>C (p.Cys1141Ser)
c.*1239G>C (n.*1239G>C)
c.4575G>C
c.5348G>C (p.Cys1783Ser)
c.5345G>C (p.Cys1782Ser)
c.5300G>C (p.Cys1767Ser)
c.4424G>C (p.Cys1475Ser)
c.4193G>C (p.Cys1398Ser)
10g.94298517G>TCA377641947PLCE1c.4382G>T (p.Cys1461Phe)
c.*1849G>T (n.*1849G>T)
n.2041G>T
n.725G>T
c.*590G>T (n.*590G>T)
c.4334G>T (p.Cys1445Phe)
n.9514G>T
n.2979G>T
c.5174G>T (p.Cys1725Phe)
c.5258G>T (p.Cys1753Phe)
c.5306G>T (p.Cys1769Phe)
c.4280G>T (p.Cys1427Phe)
c.3861G>T
c.3422G>T (p.Cys1141Phe)
c.*1239G>T (n.*1239G>T)
c.4575G>T
c.5348G>T (p.Cys1783Phe)
c.5345G>T (p.Cys1782Phe)
c.5300G>T (p.Cys1767Phe)
c.4424G>T (p.Cys1475Phe)
c.4193G>T (p.Cys1398Phe)
10g.94298518T>ACA377641948PLCE1c.4383T>A (p.Cys1461Ter)
c.*1850T>A (n.*1850T>A)
n.2042T>A
n.726T>A
c.*591T>A (n.*591T>A)
c.4335T>A (p.Cys1445Ter)
n.9515T>A
n.2980T>A
c.5175T>A (p.Cys1725Ter)
c.5259T>A (p.Cys1753Ter)
c.5307T>A (p.Cys1769Ter)
c.4281T>A (p.Cys1427Ter)
c.3862T>A
c.3423T>A (p.Cys1141Ter)
c.*1240T>A (n.*1240T>A)
c.4576T>A
c.5349T>A (p.Cys1783Ter)
c.5346T>A (p.Cys1782Ter)
c.5301T>A (p.Cys1767Ter)
c.4425T>A (p.Cys1475Ter)
c.4194T>A (p.Cys1398Ter)
10g.94298518T>CCA470986528PLCE1c.4383T>C (p.Cys1461=)
c.*1850T>C (n.*1850T>C)
n.2042T>C
n.726T>C
c.*591T>C (n.*591T>C)
c.4335T>C (p.Cys1445=)
n.9515T>C
n.2980T>C
c.5175T>C (p.Cys1725=)
c.5259T>C (p.Cys1753=)
c.5307T>C (p.Cys1769=)
c.4281T>C (p.Cys1427=)
c.3862T>C
c.3423T>C (p.Cys1141=)
c.*1240T>C (n.*1240T>C)
c.4576T>C
c.5349T>C (p.Cys1783=)
c.5346T>C (p.Cys1782=)
c.5301T>C (p.Cys1767=)
c.4425T>C (p.Cys1475=)
c.4194T>C (p.Cys1398=)
COSMIC COSMIC COSMIC COSMIC
10g.94298518T>GCA377641949PLCE1c.4383T>G (p.Cys1461Trp)
c.*1850T>G (n.*1850T>G)
n.2042T>G
n.726T>G
c.*591T>G (n.*591T>G)
c.4335T>G (p.Cys1445Trp)
n.9515T>G
n.2980T>G
c.5175T>G (p.Cys1725Trp)
c.5259T>G (p.Cys1753Trp)
c.5307T>G (p.Cys1769Trp)
c.4281T>G (p.Cys1427Trp)
c.3862T>G
c.3423T>G (p.Cys1141Trp)
c.*1240T>G (n.*1240T>G)
c.4576T>G
c.5349T>G (p.Cys1783Trp)
c.5346T>G (p.Cys1782Trp)
c.5301T>G (p.Cys1767Trp)
c.4425T>G (p.Cys1475Trp)
c.4194T>G (p.Cys1398Trp)
10g.94298519C>ACA377641950PLCE1c.4384C>A (p.Arg1462Ser)
c.*1851C>A (n.*1851C>A)
n.2043C>A
n.727C>A
c.*592C>A (n.*592C>A)
c.4336C>A (p.Arg1446Ser)
n.9516C>A
n.2981C>A
c.5176C>A (p.Arg1726Ser)
c.5260C>A (p.Arg1754Ser)
c.5308C>A (p.Arg1770Ser)
c.4282C>A (p.Arg1428Ser)
c.3863C>A
c.3424C>A (p.Arg1142Ser)
c.*1241C>A (n.*1241C>A)
c.4577C>A
c.5350C>A (p.Arg1784Ser)
c.5347C>A (p.Arg1783Ser)
c.5302C>A (p.Arg1768Ser)
c.4426C>A (p.Arg1476Ser)
c.4195C>A (p.Arg1399Ser)
10g.94298519C=CA1928998423PLCE1c.4384C= (p.Arg1462=)
c.*1851C= (n.*1851C=)
n.2043C=
n.727C=
c.*592C= (n.*592C=)
c.4336C= (p.Arg1446=)
n.9516C=
n.2981C=
c.5176C= (p.Arg1726=)
c.5260C= (p.Arg1754=)
c.5308C= (p.Arg1770=)
c.4282C= (p.Arg1428=)
c.3863C=
c.3424C= (p.Arg1142=)
c.*1241C= (n.*1241C=)
c.4577C=
c.5350C= (p.Arg1784=)
c.5347C= (p.Arg1783=)
c.5302C= (p.Arg1768=)
c.4426C= (p.Arg1476=)
c.4195C= (p.Arg1399=)
10g.94298519C>GCA377641951PLCE1c.4384C>G (p.Arg1462Gly)
c.*1851C>G (n.*1851C>G)
n.2043C>G
n.727C>G
c.*592C>G (n.*592C>G)
c.4336C>G (p.Arg1446Gly)
n.9516C>G
n.2981C>G
c.5176C>G (p.Arg1726Gly)
c.5260C>G (p.Arg1754Gly)
c.5308C>G (p.Arg1770Gly)
c.4282C>G (p.Arg1428Gly)
c.3863C>G
c.3424C>G (p.Arg1142Gly)
c.*1241C>G (n.*1241C>G)
c.4577C>G
c.5350C>G (p.Arg1784Gly)
c.5347C>G (p.Arg1783Gly)
c.5302C>G (p.Arg1768Gly)
c.4426C>G (p.Arg1476Gly)
c.4195C>G (p.Arg1399Gly)
10g.94298519C>TCA5613334PLCE1c.4384C>T (p.Arg1462Cys)
c.*1851C>T (n.*1851C>T)
n.2043C>T
n.727C>T
c.*592C>T (n.*592C>T)
c.4336C>T (p.Arg1446Cys)
n.9516C>T
n.2981C>T
c.5176C>T (p.Arg1726Cys)
c.5260C>T (p.Arg1754Cys)
c.5308C>T (p.Arg1770Cys)
c.4282C>T (p.Arg1428Cys)
c.3863C>T
c.3424C>T (p.Arg1142Cys)
c.*1241C>T (n.*1241C>T)
c.4577C>T
c.5350C>T (p.Arg1784Cys)
c.5347C>T (p.Arg1783Cys)
c.5302C>T (p.Arg1768Cys)
c.4426C>T (p.Arg1476Cys)
c.4195C>T (p.Arg1399Cys)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
10g.94298520G>ACA5613335PLCE1c.4385G>A (p.Arg1462His)
c.*1852G>A (n.*1852G>A)
n.2044G>A
n.728G>A
c.*593G>A (n.*593G>A)
c.4337G>A (p.Arg1446His)
n.9517G>A
n.2982G>A
c.5177G>A (p.Arg1726His)
c.5261G>A (p.Arg1754His)
c.5309G>A (p.Arg1770His)
c.4283G>A (p.Arg1428His)
c.3864G>A
c.3425G>A (p.Arg1142His)
c.*1242G>A (n.*1242G>A)
c.4578G>A
c.5351G>A (p.Arg1784His)
c.5348G>A (p.Arg1783His)
c.5303G>A (p.Arg1768His)
c.4427G>A (p.Arg1476His)
c.4196G>A (p.Arg1399His)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298520G>CCA377641952PLCE1c.4385G>C (p.Arg1462Pro)
c.*1852G>C (n.*1852G>C)
n.2044G>C
n.728G>C
c.*593G>C (n.*593G>C)
c.4337G>C (p.Arg1446Pro)
n.9517G>C
n.2982G>C
c.5177G>C (p.Arg1726Pro)
c.5261G>C (p.Arg1754Pro)
c.5309G>C (p.Arg1770Pro)
c.4283G>C (p.Arg1428Pro)
c.3864G>C
c.3425G>C (p.Arg1142Pro)
c.*1242G>C (n.*1242G>C)
c.4578G>C
c.5351G>C (p.Arg1784Pro)
c.5348G>C (p.Arg1783Pro)
c.5303G>C (p.Arg1768Pro)
c.4427G>C (p.Arg1476Pro)
c.4196G>C (p.Arg1399Pro)
10g.94298520G=CA1928998424PLCE1c.4385G= (p.Arg1462=)
c.*1852G= (n.*1852G=)
n.2044G=
n.728G=
c.*593G= (n.*593G=)
c.4337G= (p.Arg1446=)
n.9517G=
n.2982G=
c.5177G= (p.Arg1726=)
c.5261G= (p.Arg1754=)
c.5309G= (p.Arg1770=)
c.4283G= (p.Arg1428=)
c.3864G=
c.3425G= (p.Arg1142=)
c.*1242G= (n.*1242G=)
c.4578G=
c.5351G= (p.Arg1784=)
c.5348G= (p.Arg1783=)
c.5303G= (p.Arg1768=)
c.4427G= (p.Arg1476=)
c.4196G= (p.Arg1399=)
10g.94298520G>TCA377641953PLCE1c.4385G>T (p.Arg1462Leu)
c.*1852G>T (n.*1852G>T)
n.2044G>T
n.728G>T
c.*593G>T (n.*593G>T)
c.4337G>T (p.Arg1446Leu)
n.9517G>T
n.2982G>T
c.5177G>T (p.Arg1726Leu)
c.5261G>T (p.Arg1754Leu)
c.5309G>T (p.Arg1770Leu)
c.4283G>T (p.Arg1428Leu)
c.3864G>T
c.3425G>T (p.Arg1142Leu)
c.*1242G>T (n.*1242G>T)
c.4578G>T
c.5351G>T (p.Arg1784Leu)
c.5348G>T (p.Arg1783Leu)
c.5303G>T (p.Arg1768Leu)
c.4427G>T (p.Arg1476Leu)
c.4196G>T (p.Arg1399Leu)
10g.94298521C>ACA470986530PLCE1c.4386C>A (p.Arg1462=)
c.*1853C>A (n.*1853C>A)
n.2045C>A
n.729C>A
c.*594C>A (n.*594C>A)
c.4338C>A (p.Arg1446=)
n.9518C>A
n.2983C>A
c.5178C>A (p.Arg1726=)
c.5262C>A (p.Arg1754=)
c.5310C>A (p.Arg1770=)
c.4284C>A (p.Arg1428=)
c.3865C>A
c.3426C>A (p.Arg1142=)
c.*1243C>A (n.*1243C>A)
c.4579C>A
c.5352C>A (p.Arg1784=)
c.5349C>A (p.Arg1783=)
c.5304C>A (p.Arg1768=)
c.4428C>A (p.Arg1476=)
c.4197C>A (p.Arg1399=)
10g.94298521C>GCA470986532PLCE1c.4386C>G (p.Arg1462=)
c.*1853C>G (n.*1853C>G)
n.2045C>G
n.729C>G
c.*594C>G (n.*594C>G)
c.4338C>G (p.Arg1446=)
n.9518C>G
n.2983C>G
c.5178C>G (p.Arg1726=)
c.5262C>G (p.Arg1754=)
c.5310C>G (p.Arg1770=)
c.4284C>G (p.Arg1428=)
c.3865C>G
c.3426C>G (p.Arg1142=)
c.*1243C>G (n.*1243C>G)
c.4579C>G
c.5352C>G (p.Arg1784=)
c.5349C>G (p.Arg1783=)
c.5304C>G (p.Arg1768=)
c.4428C>G (p.Arg1476=)
c.4197C>G (p.Arg1399=)
10g.94298521C>TCA470986531PLCE1c.4386C>T (p.Arg1462=)
c.*1853C>T (n.*1853C>T)
n.2045C>T
n.729C>T
c.*594C>T (n.*594C>T)
c.4338C>T (p.Arg1446=)
n.9518C>T
n.2983C>T
c.5178C>T (p.Arg1726=)
c.5262C>T (p.Arg1754=)
c.5310C>T (p.Arg1770=)
c.4284C>T (p.Arg1428=)
c.3865C>T
c.3426C>T (p.Arg1142=)
c.*1243C>T (n.*1243C>T)
c.4579C>T
c.5352C>T (p.Arg1784=)
c.5349C>T (p.Arg1783=)
c.5304C>T (p.Arg1768=)
c.4428C>T (p.Arg1476=)
c.4197C>T (p.Arg1399=)
10g.94298522A>CCA470986533PLCE1c.4387A>C (p.Arg1463=)
c.*1854A>C (n.*1854A>C)
n.2046A>C
n.730A>C
c.*595A>C (n.*595A>C)
c.4339A>C (p.Arg1447=)
n.9519A>C
n.2984A>C
c.5179A>C (p.Arg1727=)
c.5263A>C (p.Arg1755=)
c.5311A>C (p.Arg1771=)
c.4285A>C (p.Arg1429=)
c.3866A>C
c.3427A>C (p.Arg1143=)
c.*1244A>C (n.*1244A>C)
c.4580A>C
c.5353A>C (p.Arg1785=)
c.5350A>C (p.Arg1784=)
c.5305A>C (p.Arg1769=)
c.4429A>C (p.Arg1477=)
c.4198A>C (p.Arg1400=)
10g.94298522A>GCA377641955PLCE1c.4387A>G (p.Arg1463Gly)
c.*1854A>G (n.*1854A>G)
n.2046A>G
n.730A>G
c.*595A>G (n.*595A>G)
c.4339A>G (p.Arg1447Gly)
n.9519A>G
n.2984A>G
c.5179A>G (p.Arg1727Gly)
c.5263A>G (p.Arg1755Gly)
c.5311A>G (p.Arg1771Gly)
c.4285A>G (p.Arg1429Gly)
c.3866A>G
c.3427A>G (p.Arg1143Gly)
c.*1244A>G (n.*1244A>G)
c.4580A>G
c.5353A>G (p.Arg1785Gly)
c.5350A>G (p.Arg1784Gly)
c.5305A>G (p.Arg1769Gly)
c.4429A>G (p.Arg1477Gly)
c.4198A>G (p.Arg1400Gly)
10g.94298522A>TCA377641954PLCE1c.4387A>T (p.Arg1463Trp)
c.*1854A>T (n.*1854A>T)
n.2046A>T
n.730A>T
c.*595A>T (n.*595A>T)
c.4339A>T (p.Arg1447Trp)
n.9519A>T
n.2984A>T
c.5179A>T (p.Arg1727Trp)
c.5263A>T (p.Arg1755Trp)
c.5311A>T (p.Arg1771Trp)
c.4285A>T (p.Arg1429Trp)
c.3866A>T
c.3427A>T (p.Arg1143Trp)
c.*1244A>T (n.*1244A>T)
c.4580A>T
c.5353A>T (p.Arg1785Trp)
c.5350A>T (p.Arg1784Trp)
c.5305A>T (p.Arg1769Trp)
c.4429A>T (p.Arg1477Trp)
c.4198A>T (p.Arg1400Trp)
10g.94298523G>ACA377641956PLCE1c.4388G>A (p.Arg1463Lys)
c.*1855G>A (n.*1855G>A)
n.2047G>A
n.731G>A
c.*596G>A (n.*596G>A)
c.4340G>A (p.Arg1447Lys)
n.9520G>A
n.2985G>A
c.5180G>A (p.Arg1727Lys)
c.5264G>A (p.Arg1755Lys)
c.5312G>A (p.Arg1771Lys)
c.4286G>A (p.Arg1429Lys)
c.3867G>A
c.3428G>A (p.Arg1143Lys)
c.*1245G>A (n.*1245G>A)
c.4581G>A
c.5354G>A (p.Arg1785Lys)
c.5351G>A (p.Arg1784Lys)
c.5306G>A (p.Arg1769Lys)
c.4430G>A (p.Arg1477Lys)
c.4199G>A (p.Arg1400Lys)
gnomAD v4
10g.94298523G>CCA377641957PLCE1c.4388G>C (p.Arg1463Thr)
c.*1855G>C (n.*1855G>C)
n.2047G>C
n.731G>C
c.*596G>C (n.*596G>C)
c.4340G>C (p.Arg1447Thr)
n.9520G>C
n.2985G>C
c.5180G>C (p.Arg1727Thr)
c.5264G>C (p.Arg1755Thr)
c.5312G>C (p.Arg1771Thr)
c.4286G>C (p.Arg1429Thr)
c.3867G>C
c.3428G>C (p.Arg1143Thr)
c.*1245G>C (n.*1245G>C)
c.4581G>C
c.5354G>C (p.Arg1785Thr)
c.5351G>C (p.Arg1784Thr)
c.5306G>C (p.Arg1769Thr)
c.4430G>C (p.Arg1477Thr)
c.4199G>C (p.Arg1400Thr)
dbSNP
10g.94298523G=CA1928998425PLCE1c.4388G= (p.Arg1463=)
c.*1855G= (n.*1855G=)
n.2047G=
n.731G=
c.*596G= (n.*596G=)
c.4340G= (p.Arg1447=)
n.9520G=
n.2985G=
c.5180G= (p.Arg1727=)
c.5264G= (p.Arg1755=)
c.5312G= (p.Arg1771=)
c.4286G= (p.Arg1429=)
c.3867G=
c.3428G= (p.Arg1143=)
c.*1245G= (n.*1245G=)
c.4581G=
c.5354G= (p.Arg1785=)
c.5351G= (p.Arg1784=)
c.5306G= (p.Arg1769=)
c.4430G= (p.Arg1477=)
c.4199G= (p.Arg1400=)
10g.94298523G>TCA377641958PLCE1c.4388G>T (p.Arg1463Met)
c.*1855G>T (n.*1855G>T)
n.2047G>T
n.731G>T
c.*596G>T (n.*596G>T)
c.4340G>T (p.Arg1447Met)
n.9520G>T
n.2985G>T
c.5180G>T (p.Arg1727Met)
c.5264G>T (p.Arg1755Met)
c.5312G>T (p.Arg1771Met)
c.4286G>T (p.Arg1429Met)
c.3867G>T
c.3428G>T (p.Arg1143Met)
c.*1245G>T (n.*1245G>T)
c.4581G>T
c.5354G>T (p.Arg1785Met)
c.5351G>T (p.Arg1784Met)
c.5306G>T (p.Arg1769Met)
c.4430G>T (p.Arg1477Met)
c.4199G>T (p.Arg1400Met)
10g.94298524G>ACA470986535PLCE1c.4389G>A (p.Arg1463=)
c.*1856G>A (n.*1856G>A)
n.2048G>A
n.732G>A
c.*597G>A (n.*597G>A)
c.4341G>A (p.Arg1447=)
n.9521G>A
n.2986G>A
c.5181G>A (p.Arg1727=)
c.5265G>A (p.Arg1755=)
c.5313G>A (p.Arg1771=)
c.4287G>A (p.Arg1429=)
c.3868G>A
c.3429G>A (p.Arg1143=)
c.*1246G>A (n.*1246G>A)
c.4582G>A
c.5355G>A (p.Arg1785=)
c.5352G>A (p.Arg1784=)
c.5307G>A (p.Arg1769=)
c.4431G>A (p.Arg1477=)
c.4200G>A (p.Arg1400=)
10g.94298524G>CCA377641959PLCE1c.4389G>C (p.Arg1463Ser)
c.*1856G>C (n.*1856G>C)
n.2048G>C
n.732G>C
c.*597G>C (n.*597G>C)
c.4341G>C (p.Arg1447Ser)
n.9521G>C
n.2986G>C
c.5181G>C (p.Arg1727Ser)
c.5265G>C (p.Arg1755Ser)
c.5313G>C (p.Arg1771Ser)
c.4287G>C (p.Arg1429Ser)
c.3868G>C
c.3429G>C (p.Arg1143Ser)
c.*1246G>C (n.*1246G>C)
c.4582G>C
c.5355G>C (p.Arg1785Ser)
c.5352G>C (p.Arg1784Ser)
c.5307G>C (p.Arg1769Ser)
c.4431G>C (p.Arg1477Ser)
c.4200G>C (p.Arg1400Ser)
10g.94298524G=CA1928998426PLCE1c.4389G= (p.Arg1463=)
c.*1856G= (n.*1856G=)
n.2048G=
n.732G=
c.*597G= (n.*597G=)
c.4341G= (p.Arg1447=)
n.9521G=
n.2986G=
c.5181G= (p.Arg1727=)
c.5265G= (p.Arg1755=)
c.5313G= (p.Arg1771=)
c.4287G= (p.Arg1429=)
c.3868G=
c.3429G= (p.Arg1143=)
c.*1246G= (n.*1246G=)
c.4582G=
c.5355G= (p.Arg1785=)
c.5352G= (p.Arg1784=)
c.5307G= (p.Arg1769=)
c.4431G= (p.Arg1477=)
c.4200G= (p.Arg1400=)
10g.94298524G>TCA5613336PLCE1c.4389G>T (p.Arg1463Ser)
c.*1856G>T (n.*1856G>T)
n.2048G>T
n.732G>T
c.*597G>T (n.*597G>T)
c.4341G>T (p.Arg1447Ser)
n.9521G>T
n.2986G>T
c.5181G>T (p.Arg1727Ser)
c.5265G>T (p.Arg1755Ser)
c.5313G>T (p.Arg1771Ser)
c.4287G>T (p.Arg1429Ser)
c.3868G>T
c.3429G>T (p.Arg1143Ser)
c.*1246G>T (n.*1246G>T)
c.4582G>T
c.5355G>T (p.Arg1785Ser)
c.5352G>T (p.Arg1784Ser)
c.5307G>T (p.Arg1769Ser)
c.4431G>T (p.Arg1477Ser)
c.4200G>T (p.Arg1400Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298525T>ACA377641960PLCE1c.4390T>A (p.Tyr1464Asn)
c.*1857T>A (n.*1857T>A)
n.2049T>A
n.733T>A
c.*598T>A (n.*598T>A)
c.4342T>A (p.Tyr1448Asn)
n.9522T>A
n.2987T>A
c.5182T>A (p.Tyr1728Asn)
c.5266T>A (p.Tyr1756Asn)
c.5314T>A (p.Tyr1772Asn)
c.4288T>A (p.Tyr1430Asn)
c.3869T>A
c.3430T>A (p.Tyr1144Asn)
c.*1247T>A (n.*1247T>A)
c.4583T>A
c.5356T>A (p.Tyr1786Asn)
c.5353T>A (p.Tyr1785Asn)
c.5308T>A (p.Tyr1770Asn)
c.4432T>A (p.Tyr1478Asn)
c.4201T>A (p.Tyr1401Asn)
10g.94298525T>CCA377641961PLCE1c.4390T>C (p.Tyr1464His)
c.*1857T>C (n.*1857T>C)
n.2049T>C
n.733T>C
c.*598T>C (n.*598T>C)
c.4342T>C (p.Tyr1448His)
n.9522T>C
n.2987T>C
c.5182T>C (p.Tyr1728His)
c.5266T>C (p.Tyr1756His)
c.5314T>C (p.Tyr1772His)
c.4288T>C (p.Tyr1430His)
c.3869T>C
c.3430T>C (p.Tyr1144His)
c.*1247T>C (n.*1247T>C)
c.4583T>C
c.5356T>C (p.Tyr1786His)
c.5353T>C (p.Tyr1785His)
c.5308T>C (p.Tyr1770His)
c.4432T>C (p.Tyr1478His)
c.4201T>C (p.Tyr1401His)
gnomAD v4
10g.94298525T>GCA377641962PLCE1c.4390T>G (p.Tyr1464Asp)
c.*1857T>G (n.*1857T>G)
n.2049T>G
n.733T>G
c.*598T>G (n.*598T>G)
c.4342T>G (p.Tyr1448Asp)
n.9522T>G
n.2987T>G
c.5182T>G (p.Tyr1728Asp)
c.5266T>G (p.Tyr1756Asp)
c.5314T>G (p.Tyr1772Asp)
c.4288T>G (p.Tyr1430Asp)
c.3869T>G
c.3430T>G (p.Tyr1144Asp)
c.*1247T>G (n.*1247T>G)
c.4583T>G
c.5356T>G (p.Tyr1786Asp)
c.5353T>G (p.Tyr1785Asp)
c.5308T>G (p.Tyr1770Asp)
c.4432T>G (p.Tyr1478Asp)
c.4201T>G (p.Tyr1401Asp)
10g.94298526A>CCA377641963PLCE1c.4391A>C (p.Tyr1464Ser)
c.*1858A>C (n.*1858A>C)
n.2050A>C
n.734A>C
c.*599A>C (n.*599A>C)
c.4343A>C (p.Tyr1448Ser)
n.9523A>C
n.2988A>C
c.5183A>C (p.Tyr1728Ser)
c.5267A>C (p.Tyr1756Ser)
c.5315A>C (p.Tyr1772Ser)
c.4289A>C (p.Tyr1430Ser)
c.3870A>C
c.3431A>C (p.Tyr1144Ser)
c.*1248A>C (n.*1248A>C)
c.4584A>C
c.5357A>C (p.Tyr1786Ser)
c.5354A>C (p.Tyr1785Ser)
c.5309A>C (p.Tyr1770Ser)
c.4433A>C (p.Tyr1478Ser)
c.4202A>C (p.Tyr1401Ser)
10g.94298526A>GCA377641964PLCE1c.4391A>G (p.Tyr1464Cys)
c.*1858A>G (n.*1858A>G)
n.2050A>G
n.734A>G
c.*599A>G (n.*599A>G)
c.4343A>G (p.Tyr1448Cys)
n.9523A>G
n.2988A>G
c.5183A>G (p.Tyr1728Cys)
c.5267A>G (p.Tyr1756Cys)
c.5315A>G (p.Tyr1772Cys)
c.4289A>G (p.Tyr1430Cys)
c.3870A>G
c.3431A>G (p.Tyr1144Cys)
c.*1248A>G (n.*1248A>G)
c.4584A>G
c.5357A>G (p.Tyr1786Cys)
c.5354A>G (p.Tyr1785Cys)
c.5309A>G (p.Tyr1770Cys)
c.4433A>G (p.Tyr1478Cys)
c.4202A>G (p.Tyr1401Cys)
10g.94298526A>TCA377641965PLCE1c.4391A>T (p.Tyr1464Phe)
c.*1858A>T (n.*1858A>T)
n.2050A>T
n.734A>T
c.*599A>T (n.*599A>T)
c.4343A>T (p.Tyr1448Phe)
n.9523A>T
n.2988A>T
c.5183A>T (p.Tyr1728Phe)
c.5267A>T (p.Tyr1756Phe)
c.5315A>T (p.Tyr1772Phe)
c.4289A>T (p.Tyr1430Phe)
c.3870A>T
c.3431A>T (p.Tyr1144Phe)
c.*1248A>T (n.*1248A>T)
c.4584A>T
c.5357A>T (p.Tyr1786Phe)
c.5354A>T (p.Tyr1785Phe)
c.5309A>T (p.Tyr1770Phe)
c.4433A>T (p.Tyr1478Phe)
c.4202A>T (p.Tyr1401Phe)
10g.94298527T>ACA377641966PLCE1c.4392T>A (p.Tyr1464Ter)
c.*1859T>A (n.*1859T>A)
n.2051T>A
n.735T>A
c.*600T>A (n.*600T>A)
c.4344T>A (p.Tyr1448Ter)
n.9524T>A
n.2989T>A
c.5184T>A (p.Tyr1728Ter)
c.5268T>A (p.Tyr1756Ter)
c.5316T>A (p.Tyr1772Ter)
c.4290T>A (p.Tyr1430Ter)
c.3871T>A
c.3432T>A (p.Tyr1144Ter)
c.*1249T>A (n.*1249T>A)
c.4585T>A
c.5358T>A (p.Tyr1786Ter)
c.5355T>A (p.Tyr1785Ter)
c.5310T>A (p.Tyr1770Ter)
c.4434T>A (p.Tyr1478Ter)
c.4203T>A (p.Tyr1401Ter)
10g.94298527T>CCA470986536PLCE1c.4392T>C (p.Tyr1464=)
c.*1859T>C (n.*1859T>C)
n.2051T>C
n.735T>C
c.*600T>C (n.*600T>C)
c.4344T>C (p.Tyr1448=)
n.9524T>C
n.2989T>C
c.5184T>C (p.Tyr1728=)
c.5268T>C (p.Tyr1756=)
c.5316T>C (p.Tyr1772=)
c.4290T>C (p.Tyr1430=)
c.3871T>C
c.3432T>C (p.Tyr1144=)
c.*1249T>C (n.*1249T>C)
c.4585T>C
c.5358T>C (p.Tyr1786=)
c.5355T>C (p.Tyr1785=)
c.5310T>C (p.Tyr1770=)
c.4434T>C (p.Tyr1478=)
c.4203T>C (p.Tyr1401=)
10g.94298527T>GCA377641967PLCE1c.4392T>G (p.Tyr1464Ter)
c.*1859T>G (n.*1859T>G)
n.2051T>G
n.735T>G
c.*600T>G (n.*600T>G)
c.4344T>G (p.Tyr1448Ter)
n.9524T>G
n.2989T>G
c.5184T>G (p.Tyr1728Ter)
c.5268T>G (p.Tyr1756Ter)
c.5316T>G (p.Tyr1772Ter)
c.4290T>G (p.Tyr1430Ter)
c.3871T>G
c.3432T>G (p.Tyr1144Ter)
c.*1249T>G (n.*1249T>G)
c.4585T>G
c.5358T>G (p.Tyr1786Ter)
c.5355T>G (p.Tyr1785Ter)
c.5310T>G (p.Tyr1770Ter)
c.4434T>G (p.Tyr1478Ter)
c.4203T>G (p.Tyr1401Ter)
10g.94298528T>ACA377641968PLCE1c.4393T>A (p.Ser1465Thr)
c.*1860T>A (n.*1860T>A)
n.2052T>A
n.736T>A
c.*601T>A (n.*601T>A)
c.4345T>A (p.Ser1449Thr)
n.9525T>A
n.2990T>A
c.5185T>A (p.Ser1729Thr)
c.5269T>A (p.Ser1757Thr)
c.5317T>A (p.Ser1773Thr)
c.4291T>A (p.Ser1431Thr)
c.3872T>A
c.3433T>A (p.Ser1145Thr)
c.*1250T>A (n.*1250T>A)
c.4586T>A
c.5359T>A (p.Ser1787Thr)
c.5356T>A (p.Ser1786Thr)
c.5311T>A (p.Ser1771Thr)
c.4435T>A (p.Ser1479Thr)
c.4204T>A (p.Ser1402Thr)
10g.94298528T>CCA377641970PLCE1c.4393T>C (p.Ser1465Pro)
c.*1860T>C (n.*1860T>C)
n.2052T>C
n.736T>C
c.*601T>C (n.*601T>C)
c.4345T>C (p.Ser1449Pro)
n.9525T>C
n.2990T>C
c.5185T>C (p.Ser1729Pro)
c.5269T>C (p.Ser1757Pro)
c.5317T>C (p.Ser1773Pro)
c.4291T>C (p.Ser1431Pro)
c.3872T>C
c.3433T>C (p.Ser1145Pro)
c.*1250T>C (n.*1250T>C)
c.4586T>C
c.5359T>C (p.Ser1787Pro)
c.5356T>C (p.Ser1786Pro)
c.5311T>C (p.Ser1771Pro)
c.4435T>C (p.Ser1479Pro)
c.4204T>C (p.Ser1402Pro)
10g.94298528T>GCA377641969PLCE1c.4393T>G (p.Ser1465Ala)
c.*1860T>G (n.*1860T>G)
n.2052T>G
n.736T>G
c.*601T>G (n.*601T>G)
c.4345T>G (p.Ser1449Ala)
n.9525T>G
n.2990T>G
c.5185T>G (p.Ser1729Ala)
c.5269T>G (p.Ser1757Ala)
c.5317T>G (p.Ser1773Ala)
c.4291T>G (p.Ser1431Ala)
c.3872T>G
c.3433T>G (p.Ser1145Ala)
c.*1250T>G (n.*1250T>G)
c.4586T>G
c.5359T>G (p.Ser1787Ala)
c.5356T>G (p.Ser1786Ala)
c.5311T>G (p.Ser1771Ala)
c.4435T>G (p.Ser1479Ala)
c.4204T>G (p.Ser1402Ala)
10g.94298529C>ACA377641971PLCE1c.4394C>A (p.Ser1465Tyr)
c.*1861C>A (n.*1861C>A)
n.2053C>A
n.737C>A
c.*602C>A (n.*602C>A)
c.4346C>A (p.Ser1449Tyr)
n.9526C>A
n.2991C>A
c.5186C>A (p.Ser1729Tyr)
c.5270C>A (p.Ser1757Tyr)
c.5318C>A (p.Ser1773Tyr)
c.4292C>A (p.Ser1431Tyr)
c.3873C>A
c.3434C>A (p.Ser1145Tyr)
c.*1251C>A (n.*1251C>A)
c.4587C>A
c.5360C>A (p.Ser1787Tyr)
c.5357C>A (p.Ser1786Tyr)
c.5312C>A (p.Ser1771Tyr)
c.4436C>A (p.Ser1479Tyr)
c.4205C>A (p.Ser1402Tyr)
10g.94298529C>GCA377641972PLCE1c.4394C>G (p.Ser1465Cys)
c.*1861C>G (n.*1861C>G)
n.2053C>G
n.737C>G
c.*602C>G (n.*602C>G)
c.4346C>G (p.Ser1449Cys)
n.9526C>G
n.2991C>G
c.5186C>G (p.Ser1729Cys)
c.5270C>G (p.Ser1757Cys)
c.5318C>G (p.Ser1773Cys)
c.4292C>G (p.Ser1431Cys)
c.3873C>G
c.3434C>G (p.Ser1145Cys)
c.*1251C>G (n.*1251C>G)
c.4587C>G
c.5360C>G (p.Ser1787Cys)
c.5357C>G (p.Ser1786Cys)
c.5312C>G (p.Ser1771Cys)
c.4436C>G (p.Ser1479Cys)
c.4205C>G (p.Ser1402Cys)
10g.94298529C>TCA377641973PLCE1c.4394C>T (p.Ser1465Phe)
c.*1861C>T (n.*1861C>T)
n.2053C>T
n.737C>T
c.*602C>T (n.*602C>T)
c.4346C>T (p.Ser1449Phe)
n.9526C>T
n.2991C>T
c.5186C>T (p.Ser1729Phe)
c.5270C>T (p.Ser1757Phe)
c.5318C>T (p.Ser1773Phe)
c.4292C>T (p.Ser1431Phe)
c.3873C>T
c.3434C>T (p.Ser1145Phe)
c.*1251C>T (n.*1251C>T)
c.4587C>T
c.5360C>T (p.Ser1787Phe)
c.5357C>T (p.Ser1786Phe)
c.5312C>T (p.Ser1771Phe)
c.4436C>T (p.Ser1479Phe)
c.4205C>T (p.Ser1402Phe)
gnomAD v4
10g.94298530T>ACA470986540PLCE1c.4395T>A (p.Ser1465=)
c.*1862T>A (n.*1862T>A)
n.2054T>A
n.738T>A
c.*603T>A (n.*603T>A)
c.4347T>A (p.Ser1449=)
n.9527T>A
n.2992T>A
c.5187T>A (p.Ser1729=)
c.5271T>A (p.Ser1757=)
c.5319T>A (p.Ser1773=)
c.4293T>A (p.Ser1431=)
c.3874T>A
c.3435T>A (p.Ser1145=)
c.*1252T>A (n.*1252T>A)
c.4588T>A
c.5361T>A (p.Ser1787=)
c.5358T>A (p.Ser1786=)
c.5313T>A (p.Ser1771=)
c.4437T>A (p.Ser1479=)
c.4206T>A (p.Ser1402=)
10g.94298530T>CCA470986541PLCE1c.4395T>C (p.Ser1465=)
c.*1862T>C (n.*1862T>C)
n.2054T>C
n.738T>C
c.*603T>C (n.*603T>C)
c.4347T>C (p.Ser1449=)
n.9527T>C
n.2992T>C
c.5187T>C (p.Ser1729=)
c.5271T>C (p.Ser1757=)
c.5319T>C (p.Ser1773=)
c.4293T>C (p.Ser1431=)
c.3874T>C
c.3435T>C (p.Ser1145=)
c.*1252T>C (n.*1252T>C)
c.4588T>C
c.5361T>C (p.Ser1787=)
c.5358T>C (p.Ser1786=)
c.5313T>C (p.Ser1771=)
c.4437T>C (p.Ser1479=)
c.4206T>C (p.Ser1402=)
10g.94298530T>GCA470986542PLCE1c.4395T>G (p.Ser1465=)
c.*1862T>G (n.*1862T>G)
n.2054T>G
n.738T>G
c.*603T>G (n.*603T>G)
c.4347T>G (p.Ser1449=)
n.9527T>G
n.2992T>G
c.5187T>G (p.Ser1729=)
c.5271T>G (p.Ser1757=)
c.5319T>G (p.Ser1773=)
c.4293T>G (p.Ser1431=)
c.3874T>G
c.3435T>G (p.Ser1145=)
c.*1252T>G (n.*1252T>G)
c.4588T>G
c.5361T>G (p.Ser1787=)
c.5358T>G (p.Ser1786=)
c.5313T>G (p.Ser1771=)
c.4437T>G (p.Ser1479=)
c.4206T>G (p.Ser1402=)
10g.94298531C>ACA377641974PLCE1c.4396C>A (p.Gln1466Lys)
c.*1863C>A (n.*1863C>A)
n.2055C>A
n.739C>A
c.*604C>A (n.*604C>A)
c.4348C>A (p.Gln1450Lys)
n.9528C>A
n.2993C>A
c.5188C>A (p.Gln1730Lys)
c.5272C>A (p.Gln1758Lys)
c.5320C>A (p.Gln1774Lys)
c.4294C>A (p.Gln1432Lys)
c.3875C>A
c.3436C>A (p.Gln1146Lys)
c.*1253C>A (n.*1253C>A)
c.4589C>A
c.5362C>A (p.Gln1788Lys)
c.5359C>A (p.Gln1787Lys)
c.5314C>A (p.Gln1772Lys)
c.4438C>A (p.Gln1480Lys)
c.4207C>A (p.Gln1403Lys)
10g.94298531C=CA1928998427PLCE1c.4396C= (p.Gln1466=)
c.*1863C= (n.*1863C=)
n.2055C=
n.739C=
c.*604C= (n.*604C=)
c.4348C= (p.Gln1450=)
n.9528C=
n.2993C=
c.5188C= (p.Gln1730=)
c.5272C= (p.Gln1758=)
c.5320C= (p.Gln1774=)
c.4294C= (p.Gln1432=)
c.3875C=
c.3436C= (p.Gln1146=)
c.*1253C= (n.*1253C=)
c.4589C=
c.5362C= (p.Gln1788=)
c.5359C= (p.Gln1787=)
c.5314C= (p.Gln1772=)
c.4438C= (p.Gln1480=)
c.4207C= (p.Gln1403=)
10g.94298531C>GCA377641975PLCE1c.4396C>G (p.Gln1466Glu)
c.*1863C>G (n.*1863C>G)
n.2055C>G
n.739C>G
c.*604C>G (n.*604C>G)
c.4348C>G (p.Gln1450Glu)
n.9528C>G
n.2993C>G
c.5188C>G (p.Gln1730Glu)
c.5272C>G (p.Gln1758Glu)
c.5320C>G (p.Gln1774Glu)
c.4294C>G (p.Gln1432Glu)
c.3875C>G
c.3436C>G (p.Gln1146Glu)
c.*1253C>G (n.*1253C>G)
c.4589C>G
c.5362C>G (p.Gln1788Glu)
c.5359C>G (p.Gln1787Glu)
c.5314C>G (p.Gln1772Glu)
c.4438C>G (p.Gln1480Glu)
c.4207C>G (p.Gln1403Glu)
10g.94298531C>TCA377641976PLCE1c.4396C>T (p.Gln1466Ter)
c.*1863C>T (n.*1863C>T)
n.2055C>T
n.739C>T
c.*604C>T (n.*604C>T)
c.4348C>T (p.Gln1450Ter)
n.9528C>T
n.2993C>T
c.5188C>T (p.Gln1730Ter)
c.5272C>T (p.Gln1758Ter)
c.5320C>T (p.Gln1774Ter)
c.4294C>T (p.Gln1432Ter)
c.3875C>T
c.3436C>T (p.Gln1146Ter)
c.*1253C>T (n.*1253C>T)
c.4589C>T
c.5362C>T (p.Gln1788Ter)
c.5359C>T (p.Gln1787Ter)
c.5314C>T (p.Gln1772Ter)
c.4438C>T (p.Gln1480Ter)
c.4207C>T (p.Gln1403Ter)
dbSNP gnomAD v2 gnomAD v4
10g.94298532A>CCA377641977PLCE1c.4397A>C (p.Gln1466Pro)
c.*1864A>C (n.*1864A>C)
n.2056A>C
n.740A>C
c.*605A>C (n.*605A>C)
c.4349A>C (p.Gln1450Pro)
n.9529A>C
n.2994A>C
c.5189A>C (p.Gln1730Pro)
c.5273A>C (p.Gln1758Pro)
c.5321A>C (p.Gln1774Pro)
c.4295A>C (p.Gln1432Pro)
c.3876A>C
c.3437A>C (p.Gln1146Pro)
c.*1254A>C (n.*1254A>C)
c.4590A>C
c.5363A>C (p.Gln1788Pro)
c.5360A>C (p.Gln1787Pro)
c.5315A>C (p.Gln1772Pro)
c.4439A>C (p.Gln1480Pro)
c.4208A>C (p.Gln1403Pro)
10g.94298532A>GCA377641978PLCE1c.4397A>G (p.Gln1466Arg)
c.*1864A>G (n.*1864A>G)
n.2056A>G
n.740A>G
c.*605A>G (n.*605A>G)
c.4349A>G (p.Gln1450Arg)
n.9529A>G
n.2994A>G
c.5189A>G (p.Gln1730Arg)
c.5273A>G (p.Gln1758Arg)
c.5321A>G (p.Gln1774Arg)
c.4295A>G (p.Gln1432Arg)
c.3876A>G
c.3437A>G (p.Gln1146Arg)
c.*1254A>G (n.*1254A>G)
c.4590A>G
c.5363A>G (p.Gln1788Arg)
c.5360A>G (p.Gln1787Arg)
c.5315A>G (p.Gln1772Arg)
c.4439A>G (p.Gln1480Arg)
c.4208A>G (p.Gln1403Arg)
10g.94298532A>TCA377641979PLCE1c.4397A>T (p.Gln1466Leu)
c.*1864A>T (n.*1864A>T)
n.2056A>T
n.740A>T
c.*605A>T (n.*605A>T)
c.4349A>T (p.Gln1450Leu)
n.9529A>T
n.2994A>T
c.5189A>T (p.Gln1730Leu)
c.5273A>T (p.Gln1758Leu)
c.5321A>T (p.Gln1774Leu)
c.4295A>T (p.Gln1432Leu)
c.3876A>T
c.3437A>T (p.Gln1146Leu)
c.*1254A>T (n.*1254A>T)
c.4590A>T
c.5363A>T (p.Gln1788Leu)
c.5360A>T (p.Gln1787Leu)
c.5315A>T (p.Gln1772Leu)
c.4439A>T (p.Gln1480Leu)
c.4208A>T (p.Gln1403Leu)
10g.94298533G>ACA470986544PLCE1c.4398G>A (p.Gln1466=)
c.*1865G>A (n.*1865G>A)
n.2057G>A
n.741G>A
c.*606G>A (n.*606G>A)
c.4350G>A (p.Gln1450=)
n.9530G>A
n.2995G>A
c.5190G>A (p.Gln1730=)
c.5274G>A (p.Gln1758=)
c.5322G>A (p.Gln1774=)
c.4296G>A (p.Gln1432=)
c.3877G>A
c.3438G>A (p.Gln1146=)
c.*1255G>A (n.*1255G>A)
c.4591G>A
c.5364G>A (p.Gln1788=)
c.5361G>A (p.Gln1787=)
c.5316G>A (p.Gln1772=)
c.4440G>A (p.Gln1480=)
c.4209G>A (p.Gln1403=)
10g.94298533G>CCA377641980PLCE1c.4398G>C (p.Gln1466His)
c.*1865G>C (n.*1865G>C)
n.2057G>C
n.741G>C
c.*606G>C (n.*606G>C)
c.4350G>C (p.Gln1450His)
n.9530G>C
n.2995G>C
c.5190G>C (p.Gln1730His)
c.5274G>C (p.Gln1758His)
c.5322G>C (p.Gln1774His)
c.4296G>C (p.Gln1432His)
c.3877G>C
c.3438G>C (p.Gln1146His)
c.*1255G>C (n.*1255G>C)
c.4591G>C
c.5364G>C (p.Gln1788His)
c.5361G>C (p.Gln1787His)
c.5316G>C (p.Gln1772His)
c.4440G>C (p.Gln1480His)
c.4209G>C (p.Gln1403His)
10g.94298533G>TCA377641981PLCE1c.4398G>T (p.Gln1466His)
c.*1865G>T (n.*1865G>T)
n.2057G>T
n.741G>T
c.*606G>T (n.*606G>T)
c.4350G>T (p.Gln1450His)
n.9530G>T
n.2995G>T
c.5190G>T (p.Gln1730His)
c.5274G>T (p.Gln1758His)
c.5322G>T (p.Gln1774His)
c.4296G>T (p.Gln1432His)
c.3877G>T
c.3438G>T (p.Gln1146His)
c.*1255G>T (n.*1255G>T)
c.4591G>T
c.5364G>T (p.Gln1788His)
c.5361G>T (p.Gln1787His)
c.5316G>T (p.Gln1772His)
c.4440G>T (p.Gln1480His)
c.4209G>T (p.Gln1403His)
10g.94298534A>CCA377641984PLCE1c.4399A>C (p.Lys1467Gln)
c.*1866A>C (n.*1866A>C)
n.2058A>C
n.742A>C
c.*607A>C (n.*607A>C)
c.4351A>C (p.Lys1451Gln)
n.9531A>C
n.2996A>C
c.5191A>C (p.Lys1731Gln)
c.5275A>C (p.Lys1759Gln)
c.5323A>C (p.Lys1775Gln)
c.4297A>C (p.Lys1433Gln)
c.3878A>C
c.3439A>C (p.Lys1147Gln)
c.*1256A>C (n.*1256A>C)
c.4592A>C
c.5365A>C (p.Lys1789Gln)
c.5362A>C (p.Lys1788Gln)
c.5317A>C (p.Lys1773Gln)
c.4441A>C (p.Lys1481Gln)
c.4210A>C (p.Lys1404Gln)
10g.94298534A>GCA377641983PLCE1c.4399A>G (p.Lys1467Glu)
c.*1866A>G (n.*1866A>G)
n.2058A>G
n.742A>G
c.*607A>G (n.*607A>G)
c.4351A>G (p.Lys1451Glu)
n.9531A>G
n.2996A>G
c.5191A>G (p.Lys1731Glu)
c.5275A>G (p.Lys1759Glu)
c.5323A>G (p.Lys1775Glu)
c.4297A>G (p.Lys1433Glu)
c.3878A>G
c.3439A>G (p.Lys1147Glu)
c.*1256A>G (n.*1256A>G)
c.4592A>G
c.5365A>G (p.Lys1789Glu)
c.5362A>G (p.Lys1788Glu)
c.5317A>G (p.Lys1773Glu)
c.4441A>G (p.Lys1481Glu)
c.4210A>G (p.Lys1404Glu)
10g.94298534A>TCA377641982PLCE1c.4399A>T (p.Lys1467Ter)
c.*1866A>T (n.*1866A>T)
n.2058A>T
n.742A>T
c.*607A>T (n.*607A>T)
c.4351A>T (p.Lys1451Ter)
n.9531A>T
n.2996A>T
c.5191A>T (p.Lys1731Ter)
c.5275A>T (p.Lys1759Ter)
c.5323A>T (p.Lys1775Ter)
c.4297A>T (p.Lys1433Ter)
c.3878A>T
c.3439A>T (p.Lys1147Ter)
c.*1256A>T (n.*1256A>T)
c.4592A>T
c.5365A>T (p.Lys1789Ter)
c.5362A>T (p.Lys1788Ter)
c.5317A>T (p.Lys1773Ter)
c.4441A>T (p.Lys1481Ter)
c.4210A>T (p.Lys1404Ter)
10g.94298535A>CCA377641985PLCE1c.4400A>C (p.Lys1467Thr)
c.*1867A>C (n.*1867A>C)
n.2059A>C
n.743A>C
c.*608A>C (n.*608A>C)
c.4352A>C (p.Lys1451Thr)
n.9532A>C
n.2997A>C
c.5192A>C (p.Lys1731Thr)
c.5276A>C (p.Lys1759Thr)
c.5324A>C (p.Lys1775Thr)
c.4298A>C (p.Lys1433Thr)
c.3879A>C
c.3440A>C (p.Lys1147Thr)
c.*1257A>C (n.*1257A>C)
c.4593A>C
c.5366A>C (p.Lys1789Thr)
c.5363A>C (p.Lys1788Thr)
c.5318A>C (p.Lys1773Thr)
c.4442A>C (p.Lys1481Thr)
c.4211A>C (p.Lys1404Thr)
10g.94298535A>GCA377641986PLCE1c.4400A>G (p.Lys1467Arg)
c.*1867A>G (n.*1867A>G)
n.2059A>G
n.743A>G
c.*608A>G (n.*608A>G)
c.4352A>G (p.Lys1451Arg)
n.9532A>G
n.2997A>G
c.5192A>G (p.Lys1731Arg)
c.5276A>G (p.Lys1759Arg)
c.5324A>G (p.Lys1775Arg)
c.4298A>G (p.Lys1433Arg)
c.3879A>G
c.3440A>G (p.Lys1147Arg)
c.*1257A>G (n.*1257A>G)
c.4593A>G
c.5366A>G (p.Lys1789Arg)
c.5363A>G (p.Lys1788Arg)
c.5318A>G (p.Lys1773Arg)
c.4442A>G (p.Lys1481Arg)
c.4211A>G (p.Lys1404Arg)
gnomAD v4
10g.94298535A>TCA377641987PLCE1c.4400A>T (p.Lys1467Ile)
c.*1867A>T (n.*1867A>T)
n.2059A>T
n.743A>T
c.*608A>T (n.*608A>T)
c.4352A>T (p.Lys1451Ile)
n.9532A>T
n.2997A>T
c.5192A>T (p.Lys1731Ile)
c.5276A>T (p.Lys1759Ile)
c.5324A>T (p.Lys1775Ile)
c.4298A>T (p.Lys1433Ile)
c.3879A>T
c.3440A>T (p.Lys1147Ile)
c.*1257A>T (n.*1257A>T)
c.4593A>T
c.5366A>T (p.Lys1789Ile)
c.5363A>T (p.Lys1788Ile)
c.5318A>T (p.Lys1773Ile)
c.4442A>T (p.Lys1481Ile)
c.4211A>T (p.Lys1404Ile)
10g.94298535_94298536insTCA645550159PLCE1c.4400_4401insT (p.Lys1467AsnfsTer?)
c.*1867_*1868insT (n.*1867_*1868insT)
n.2059_2060insT
n.743_744insT
c.*608_*609insT (n.*608_*609insT)
c.4352_4353insT (p.Lys1451AsnfsTer?)
n.9532_9533insT
n.2997_2998insT
c.5192_5193insT (p.Lys1731AsnfsTer?)
c.5276_5277insT (p.Lys1759AsnfsTer?)
c.5324_5325insT (p.Lys1775AsnfsTer?)
c.4298_4299insT (p.Lys1433AsnfsTer?)
c.3879_3880insT
c.3440_3441insT (p.Lys1147AsnfsTer?)
c.*1257_*1258insT (n.*1257_*1258insT)
c.4593_4594insT
c.5366_5367insT (p.Lys1789AsnfsTer?)
c.5363_5364insT (p.Lys1788AsnfsTer?)
c.5318_5319insT (p.Lys1773AsnfsTer?)
c.4442_4443insT (p.Lys1481AsnfsTer?)
c.4211_4212insT (p.Lys1404AsnfsTer?)
COSMIC COSMIC COSMIC COSMIC
10g.94298536A=CA1928998428PLCE1c.4401A= (p.Lys1467=)
c.*1868A= (n.*1868A=)
n.2060A=
n.744A=
c.*609A= (n.*609A=)
c.4353A= (p.Lys1451=)
n.9533A=
n.2998A=
c.5193A= (p.Lys1731=)
c.5277A= (p.Lys1759=)
c.5325A= (p.Lys1775=)
c.4299A= (p.Lys1433=)
c.3880A=
c.3441A= (p.Lys1147=)
c.*1258A= (n.*1258A=)
c.4594A=
c.5367A= (p.Lys1789=)
c.5364A= (p.Lys1788=)
c.5319A= (p.Lys1773=)
c.4443A= (p.Lys1481=)
c.4212A= (p.Lys1404=)
10g.94298536A>CCA377641988PLCE1c.4401A>C (p.Lys1467Asn)
c.*1868A>C (n.*1868A>C)
n.2060A>C
n.744A>C
c.*609A>C (n.*609A>C)
c.4353A>C (p.Lys1451Asn)
n.9533A>C
n.2998A>C
c.5193A>C (p.Lys1731Asn)
c.5277A>C (p.Lys1759Asn)
c.5325A>C (p.Lys1775Asn)
c.4299A>C (p.Lys1433Asn)
c.3880A>C
c.3441A>C (p.Lys1147Asn)
c.*1258A>C (n.*1258A>C)
c.4594A>C
c.5367A>C (p.Lys1789Asn)
c.5364A>C (p.Lys1788Asn)
c.5319A>C (p.Lys1773Asn)
c.4443A>C (p.Lys1481Asn)
c.4212A>C (p.Lys1404Asn)
10g.94298536A>GCA470986546PLCE1c.4401A>G (p.Lys1467=)
c.*1868A>G (n.*1868A>G)
n.2060A>G
n.744A>G
c.*609A>G (n.*609A>G)
c.4353A>G (p.Lys1451=)
n.9533A>G
n.2998A>G
c.5193A>G (p.Lys1731=)
c.5277A>G (p.Lys1759=)
c.5325A>G (p.Lys1775=)
c.4299A>G (p.Lys1433=)
c.3880A>G
c.3441A>G (p.Lys1147=)
c.*1258A>G (n.*1258A>G)
c.4594A>G
c.5367A>G (p.Lys1789=)
c.5364A>G (p.Lys1788=)
c.5319A>G (p.Lys1773=)
c.4443A>G (p.Lys1481=)
c.4212A>G (p.Lys1404=)
dbSNP gnomAD v4
10g.94298536A>TCA377641989PLCE1c.4401A>T (p.Lys1467Asn)
c.*1868A>T (n.*1868A>T)
n.2060A>T
n.744A>T
c.*609A>T (n.*609A>T)
c.4353A>T (p.Lys1451Asn)
n.9533A>T
n.2998A>T
c.5193A>T (p.Lys1731Asn)
c.5277A>T (p.Lys1759Asn)
c.5325A>T (p.Lys1775Asn)
c.4299A>T (p.Lys1433Asn)
c.3880A>T
c.3441A>T (p.Lys1147Asn)
c.*1258A>T (n.*1258A>T)
c.4594A>T
c.5367A>T (p.Lys1789Asn)
c.5364A>T (p.Lys1788Asn)
c.5319A>T (p.Lys1773Asn)
c.4443A>T (p.Lys1481Asn)
c.4212A>T (p.Lys1404Asn)
10g.94298537C>ACA377641990PLCE1c.4402C>A (p.Leu1468Met)
c.*1869C>A (n.*1869C>A)
n.2061C>A
n.745C>A
c.*610C>A (n.*610C>A)
c.4354C>A (p.Leu1452Met)
n.9534C>A
n.2999C>A
c.5194C>A (p.Leu1732Met)
c.5278C>A (p.Leu1760Met)
c.5326C>A (p.Leu1776Met)
c.4300C>A (p.Leu1434Met)
c.3881C>A
c.3442C>A (p.Leu1148Met)
c.*1259C>A (n.*1259C>A)
c.4595C>A
c.5368C>A (p.Leu1790Met)
c.5365C>A (p.Leu1789Met)
c.5320C>A (p.Leu1774Met)
c.4444C>A (p.Leu1482Met)
c.4213C>A (p.Leu1405Met)
10g.94298537C>GCA377641991PLCE1c.4402C>G (p.Leu1468Val)
c.*1869C>G (n.*1869C>G)
n.2061C>G
n.745C>G
c.*610C>G (n.*610C>G)
c.4354C>G (p.Leu1452Val)
n.9534C>G
n.2999C>G
c.5194C>G (p.Leu1732Val)
c.5278C>G (p.Leu1760Val)
c.5326C>G (p.Leu1776Val)
c.4300C>G (p.Leu1434Val)
c.3881C>G
c.3442C>G (p.Leu1148Val)
c.*1259C>G (n.*1259C>G)
c.4595C>G
c.5368C>G (p.Leu1790Val)
c.5365C>G (p.Leu1789Val)
c.5320C>G (p.Leu1774Val)
c.4444C>G (p.Leu1482Val)
c.4213C>G (p.Leu1405Val)
gnomAD v4
10g.94298537C>TCA470986547PLCE1c.4402C>T (p.Leu1468=)
c.*1869C>T (n.*1869C>T)
n.2061C>T
n.745C>T
c.*610C>T (n.*610C>T)
c.4354C>T (p.Leu1452=)
n.9534C>T
n.2999C>T
c.5194C>T (p.Leu1732=)
c.5278C>T (p.Leu1760=)
c.5326C>T (p.Leu1776=)
c.4300C>T (p.Leu1434=)
c.3881C>T
c.3442C>T (p.Leu1148=)
c.*1259C>T (n.*1259C>T)
c.4595C>T
c.5368C>T (p.Leu1790=)
c.5365C>T (p.Leu1789=)
c.5320C>T (p.Leu1774=)
c.4444C>T (p.Leu1482=)
c.4213C>T (p.Leu1405=)
10g.94298538T>ACA377641992PLCE1c.4403T>A (p.Leu1468Gln)
c.*1870T>A (n.*1870T>A)
n.2062T>A
n.746T>A
c.*611T>A (n.*611T>A)
c.4355T>A (p.Leu1452Gln)
n.9535T>A
n.3000T>A
c.5195T>A (p.Leu1732Gln)
c.5279T>A (p.Leu1760Gln)
c.5327T>A (p.Leu1776Gln)
c.4301T>A (p.Leu1434Gln)
c.3882T>A
c.3443T>A (p.Leu1148Gln)
c.*1260T>A (n.*1260T>A)
c.4596T>A
c.5369T>A (p.Leu1790Gln)
c.5366T>A (p.Leu1789Gln)
c.5321T>A (p.Leu1774Gln)
c.4445T>A (p.Leu1482Gln)
c.4214T>A (p.Leu1405Gln)
10g.94298538T>CCA377641993PLCE1c.4403T>C (p.Leu1468Pro)
c.*1870T>C (n.*1870T>C)
n.2062T>C
n.746T>C
c.*611T>C (n.*611T>C)
c.4355T>C (p.Leu1452Pro)
n.9535T>C
n.3000T>C
c.5195T>C (p.Leu1732Pro)
c.5279T>C (p.Leu1760Pro)
c.5327T>C (p.Leu1776Pro)
c.4301T>C (p.Leu1434Pro)
c.3882T>C
c.3443T>C (p.Leu1148Pro)
c.*1260T>C (n.*1260T>C)
c.4596T>C
c.5369T>C (p.Leu1790Pro)
c.5366T>C (p.Leu1789Pro)
c.5321T>C (p.Leu1774Pro)
c.4445T>C (p.Leu1482Pro)
c.4214T>C (p.Leu1405Pro)
10g.94298538T>GCA377641994PLCE1c.4403T>G (p.Leu1468Arg)
c.*1870T>G (n.*1870T>G)
n.2062T>G
n.746T>G
c.*611T>G (n.*611T>G)
c.4355T>G (p.Leu1452Arg)
n.9535T>G
n.3000T>G
c.5195T>G (p.Leu1732Arg)
c.5279T>G (p.Leu1760Arg)
c.5327T>G (p.Leu1776Arg)
c.4301T>G (p.Leu1434Arg)
c.3882T>G
c.3443T>G (p.Leu1148Arg)
c.*1260T>G (n.*1260T>G)
c.4596T>G
c.5369T>G (p.Leu1790Arg)
c.5366T>G (p.Leu1789Arg)
c.5321T>G (p.Leu1774Arg)
c.4445T>G (p.Leu1482Arg)
c.4214T>G (p.Leu1405Arg)
10g.94298539G>ACA470986549PLCE1c.4404G>A (p.Leu1468=)
c.*1871G>A (n.*1871G>A)
n.2063G>A
n.747G>A
c.*612G>A (n.*612G>A)
c.4356G>A (p.Leu1452=)
n.9536G>A
n.3001G>A
c.5196G>A (p.Leu1732=)
c.5280G>A (p.Leu1760=)
c.5328G>A (p.Leu1776=)
c.4302G>A (p.Leu1434=)
c.3883G>A
c.3444G>A (p.Leu1148=)
c.*1261G>A (n.*1261G>A)
c.4597G>A
c.5370G>A (p.Leu1790=)
c.5367G>A (p.Leu1789=)
c.5322G>A (p.Leu1774=)
c.4446G>A (p.Leu1482=)
c.4215G>A (p.Leu1405=)
dbSNP gnomAD v3 gnomAD v4
10g.94298539G>CCA470986550PLCE1c.4404G>C (p.Leu1468=)
c.*1871G>C (n.*1871G>C)
n.2063G>C
n.747G>C
c.*612G>C (n.*612G>C)
c.4356G>C (p.Leu1452=)
n.9536G>C
n.3001G>C
c.5196G>C (p.Leu1732=)
c.5280G>C (p.Leu1760=)
c.5328G>C (p.Leu1776=)
c.4302G>C (p.Leu1434=)
c.3883G>C
c.3444G>C (p.Leu1148=)
c.*1261G>C (n.*1261G>C)
c.4597G>C
c.5370G>C (p.Leu1790=)
c.5367G>C (p.Leu1789=)
c.5322G>C (p.Leu1774=)
c.4446G>C (p.Leu1482=)
c.4215G>C (p.Leu1405=)
gnomAD v4
10g.94298539G=CA1928998429PLCE1c.4404G= (p.Leu1468=)
c.*1871G= (n.*1871G=)
n.2063G=
n.747G=
c.*612G= (n.*612G=)
c.4356G= (p.Leu1452=)
n.9536G=
n.3001G=
c.5196G= (p.Leu1732=)
c.5280G= (p.Leu1760=)
c.5328G= (p.Leu1776=)
c.4302G= (p.Leu1434=)
c.3883G=
c.3444G= (p.Leu1148=)
c.*1261G= (n.*1261G=)
c.4597G=
c.5370G= (p.Leu1790=)
c.5367G= (p.Leu1789=)
c.5322G= (p.Leu1774=)
c.4446G= (p.Leu1482=)
c.4215G= (p.Leu1405=)
10g.94298539G>TCA470986551PLCE1c.4404G>T (p.Leu1468=)
c.*1871G>T (n.*1871G>T)
n.2063G>T
n.747G>T
c.*612G>T (n.*612G>T)
c.4356G>T (p.Leu1452=)
n.9536G>T
n.3001G>T
c.5196G>T (p.Leu1732=)
c.5280G>T (p.Leu1760=)
c.5328G>T (p.Leu1776=)
c.4302G>T (p.Leu1434=)
c.3883G>T
c.3444G>T (p.Leu1148=)
c.*1261G>T (n.*1261G>T)
c.4597G>T
c.5370G>T (p.Leu1790=)
c.5367G>T (p.Leu1789=)
c.5322G>T (p.Leu1774=)
c.4446G>T (p.Leu1482=)
c.4215G>T (p.Leu1405=)
10g.94298540A>CCA377641995PLCE1c.4405A>C (p.Thr1469Pro)
c.*1872A>C (n.*1872A>C)
n.2064A>C
n.748A>C
c.*613A>C (n.*613A>C)
c.4357A>C (p.Thr1453Pro)
n.9537A>C
n.3002A>C
c.5197A>C (p.Thr1733Pro)
c.5281A>C (p.Thr1761Pro)
c.5329A>C (p.Thr1777Pro)
c.4303A>C (p.Thr1435Pro)
c.3884A>C
c.3445A>C (p.Thr1149Pro)
c.*1262A>C (n.*1262A>C)
c.4598A>C
c.5371A>C (p.Thr1791Pro)
c.5368A>C (p.Thr1790Pro)
c.5323A>C (p.Thr1775Pro)
c.4447A>C (p.Thr1483Pro)
c.4216A>C (p.Thr1406Pro)
10g.94298540A>GCA377641996PLCE1c.4405A>G (p.Thr1469Ala)
c.*1872A>G (n.*1872A>G)
n.2064A>G
n.748A>G
c.*613A>G (n.*613A>G)
c.4357A>G (p.Thr1453Ala)
n.9537A>G
n.3002A>G
c.5197A>G (p.Thr1733Ala)
c.5281A>G (p.Thr1761Ala)
c.5329A>G (p.Thr1777Ala)
c.4303A>G (p.Thr1435Ala)
c.3884A>G
c.3445A>G (p.Thr1149Ala)
c.*1262A>G (n.*1262A>G)
c.4598A>G
c.5371A>G (p.Thr1791Ala)
c.5368A>G (p.Thr1790Ala)
c.5323A>G (p.Thr1775Ala)
c.4447A>G (p.Thr1483Ala)
c.4216A>G (p.Thr1406Ala)
ClinVar gnomAD v4
10g.94298540A>TCA377641997PLCE1c.4405A>T (p.Thr1469Ser)
c.*1872A>T (n.*1872A>T)
n.2064A>T
n.748A>T
c.*613A>T (n.*613A>T)
c.4357A>T (p.Thr1453Ser)
n.9537A>T
n.3002A>T
c.5197A>T (p.Thr1733Ser)
c.5281A>T (p.Thr1761Ser)
c.5329A>T (p.Thr1777Ser)
c.4303A>T (p.Thr1435Ser)
c.3884A>T
c.3445A>T (p.Thr1149Ser)
c.*1262A>T (n.*1262A>T)
c.4598A>T
c.5371A>T (p.Thr1791Ser)
c.5368A>T (p.Thr1790Ser)
c.5323A>T (p.Thr1775Ser)
c.4447A>T (p.Thr1483Ser)
c.4216A>T (p.Thr1406Ser)
10g.94298541C>ACA377641998PLCE1c.4406C>A (p.Thr1469Asn)
c.*1873C>A (n.*1873C>A)
n.2065C>A
n.749C>A
c.*614C>A (n.*614C>A)
c.4358C>A (p.Thr1453Asn)
n.9538C>A
n.3003C>A
c.5198C>A (p.Thr1733Asn)
c.5282C>A (p.Thr1761Asn)
c.5330C>A (p.Thr1777Asn)
c.4304C>A (p.Thr1435Asn)
c.3885C>A
c.3446C>A (p.Thr1149Asn)
c.*1263C>A (n.*1263C>A)
c.4599C>A
c.5372C>A (p.Thr1791Asn)
c.5369C>A (p.Thr1790Asn)
c.5324C>A (p.Thr1775Asn)
c.4448C>A (p.Thr1483Asn)
c.4217C>A (p.Thr1406Asn)
dbSNP
10g.94298541C=CA1928998430PLCE1c.4406C= (p.Thr1469=)
c.*1873C= (n.*1873C=)
n.2065C=
n.749C=
c.*614C= (n.*614C=)
c.4358C= (p.Thr1453=)
n.9538C=
n.3003C=
c.5198C= (p.Thr1733=)
c.5282C= (p.Thr1761=)
c.5330C= (p.Thr1777=)
c.4304C= (p.Thr1435=)
c.3885C=
c.3446C= (p.Thr1149=)
c.*1263C= (n.*1263C=)
c.4599C=
c.5372C= (p.Thr1791=)
c.5369C= (p.Thr1790=)
c.5324C= (p.Thr1775=)
c.4448C= (p.Thr1483=)
c.4217C= (p.Thr1406=)
10g.94298541C>GCA377641999PLCE1c.4406C>G (p.Thr1469Ser)
c.*1873C>G (n.*1873C>G)
n.2065C>G
n.749C>G
c.*614C>G (n.*614C>G)
c.4358C>G (p.Thr1453Ser)
n.9538C>G
n.3003C>G
c.5198C>G (p.Thr1733Ser)
c.5282C>G (p.Thr1761Ser)
c.5330C>G (p.Thr1777Ser)
c.4304C>G (p.Thr1435Ser)
c.3885C>G
c.3446C>G (p.Thr1149Ser)
c.*1263C>G (n.*1263C>G)
c.4599C>G
c.5372C>G (p.Thr1791Ser)
c.5369C>G (p.Thr1790Ser)
c.5324C>G (p.Thr1775Ser)
c.4448C>G (p.Thr1483Ser)
c.4217C>G (p.Thr1406Ser)
10g.94298541C>TCA5613337PLCE1c.4406C>T (p.Thr1469Ile)
c.*1873C>T (n.*1873C>T)
n.2065C>T
n.749C>T
c.*614C>T (n.*614C>T)
c.4358C>T (p.Thr1453Ile)
n.9538C>T
n.3003C>T
c.5198C>T (p.Thr1733Ile)
c.5282C>T (p.Thr1761Ile)
c.5330C>T (p.Thr1777Ile)
c.4304C>T (p.Thr1435Ile)
c.3885C>T
c.3446C>T (p.Thr1149Ile)
c.*1263C>T (n.*1263C>T)
c.4599C>T
c.5372C>T (p.Thr1791Ile)
c.5369C>T (p.Thr1790Ile)
c.5324C>T (p.Thr1775Ile)
c.4448C>T (p.Thr1483Ile)
c.4217C>T (p.Thr1406Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298542_94298543delCA2789048720PLCE1c.4407_4408del (p.Gln1470AlafsTer?)
c.*1874_*1875del (n.*1874_*1875del)
n.2066_2067del
n.750_751del
c.*615_*616del (n.*615_*616del)
c.4359_4360del (p.Gln1454AlafsTer?)
n.9539_9540del
n.3004_3005del
c.5199_5200del (p.Gln1734AlafsTer?)
c.5283_5284del (p.Gln1762AlafsTer?)
c.5331_5332del (p.Gln1778AlafsTer?)
c.4305_4306del (p.Gln1436AlafsTer?)
c.3886_3887del
c.3447_3448del (p.Gln1150AlafsTer?)
c.*1264_*1265del (n.*1264_*1265del)
c.4600_4601del
c.5373_5374del (p.Gln1792AlafsTer?)
c.5370_5371del (p.Gln1791AlafsTer?)
c.5325_5326del (p.Gln1776AlafsTer?)
c.4449_4450del (p.Gln1484AlafsTer?)
c.4218_4219del (p.Gln1407AlafsTer?)
10g.94298542C>ACA470986554PLCE1c.4407C>A (p.Thr1469=)
c.*1874C>A (n.*1874C>A)
n.2066C>A
n.750C>A
c.*615C>A (n.*615C>A)
c.4359C>A (p.Thr1453=)
n.9539C>A
n.3004C>A
c.5199C>A (p.Thr1733=)
c.5283C>A (p.Thr1761=)
c.5331C>A (p.Thr1777=)
c.4305C>A (p.Thr1435=)
c.3886C>A
c.3447C>A (p.Thr1149=)
c.*1264C>A (n.*1264C>A)
c.4600C>A
c.5373C>A (p.Thr1791=)
c.5370C>A (p.Thr1790=)
c.5325C>A (p.Thr1775=)
c.4449C>A (p.Thr1483=)
c.4218C>A (p.Thr1406=)
10g.94298542C=CA1928998431PLCE1c.4407C= (p.Thr1469=)
c.*1874C= (n.*1874C=)
n.2066C=
n.750C=
c.*615C= (n.*615C=)
c.4359C= (p.Thr1453=)
n.9539C=
n.3004C=
c.5199C= (p.Thr1733=)
c.5283C= (p.Thr1761=)
c.5331C= (p.Thr1777=)
c.4305C= (p.Thr1435=)
c.3886C=
c.3447C= (p.Thr1149=)
c.*1264C= (n.*1264C=)
c.4600C=
c.5373C= (p.Thr1791=)
c.5370C= (p.Thr1790=)
c.5325C= (p.Thr1775=)
c.4449C= (p.Thr1483=)
c.4218C= (p.Thr1406=)
10g.94298542C>GCA470986553PLCE1c.4407C>G (p.Thr1469=)
c.*1874C>G (n.*1874C>G)
n.2066C>G
n.750C>G
c.*615C>G (n.*615C>G)
c.4359C>G (p.Thr1453=)
n.9539C>G
n.3004C>G
c.5199C>G (p.Thr1733=)
c.5283C>G (p.Thr1761=)
c.5331C>G (p.Thr1777=)
c.4305C>G (p.Thr1435=)
c.3886C>G
c.3447C>G (p.Thr1149=)
c.*1264C>G (n.*1264C>G)
c.4600C>G
c.5373C>G (p.Thr1791=)
c.5370C>G (p.Thr1790=)
c.5325C>G (p.Thr1775=)
c.4449C>G (p.Thr1483=)
c.4218C>G (p.Thr1406=)
10g.94298542C>TCA5613338PLCE1c.4407C>T (p.Thr1469=)
c.*1874C>T (n.*1874C>T)
n.2066C>T
n.750C>T
c.*615C>T (n.*615C>T)
c.4359C>T (p.Thr1453=)
n.9539C>T
n.3004C>T
c.5199C>T (p.Thr1733=)
c.5283C>T (p.Thr1761=)
c.5331C>T (p.Thr1777=)
c.4305C>T (p.Thr1435=)
c.3886C>T
c.3447C>T (p.Thr1149=)
c.*1264C>T (n.*1264C>T)
c.4600C>T
c.5373C>T (p.Thr1791=)
c.5370C>T (p.Thr1790=)
c.5325C>T (p.Thr1775=)
c.4449C>T (p.Thr1483=)
c.4218C>T (p.Thr1406=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298543C>ACA377642000PLCE1c.4408C>A (p.Gln1470Lys)
c.*1875C>A (n.*1875C>A)
n.2067C>A
n.751C>A
c.*616C>A (n.*616C>A)
c.4360C>A (p.Gln1454Lys)
n.9540C>A
n.3005C>A
c.5200C>A (p.Gln1734Lys)
c.5284C>A (p.Gln1762Lys)
c.5332C>A (p.Gln1778Lys)
c.4306C>A (p.Gln1436Lys)
c.3887C>A
c.3448C>A (p.Gln1150Lys)
c.*1265C>A (n.*1265C>A)
c.4601C>A
c.5374C>A (p.Gln1792Lys)
c.5371C>A (p.Gln1791Lys)
c.5326C>A (p.Gln1776Lys)
c.4450C>A (p.Gln1484Lys)
c.4219C>A (p.Gln1407Lys)
10g.94298543C>GCA377642001PLCE1c.4408C>G (p.Gln1470Glu)
c.*1875C>G (n.*1875C>G)
n.2067C>G
n.751C>G
c.*616C>G (n.*616C>G)
c.4360C>G (p.Gln1454Glu)
n.9540C>G
n.3005C>G
c.5200C>G (p.Gln1734Glu)
c.5284C>G (p.Gln1762Glu)
c.5332C>G (p.Gln1778Glu)
c.4306C>G (p.Gln1436Glu)
c.3887C>G
c.3448C>G (p.Gln1150Glu)
c.*1265C>G (n.*1265C>G)
c.4601C>G
c.5374C>G (p.Gln1792Glu)
c.5371C>G (p.Gln1791Glu)
c.5326C>G (p.Gln1776Glu)
c.4450C>G (p.Gln1484Glu)
c.4219C>G (p.Gln1407Glu)
10g.94298543C>TCA377642002PLCE1c.4408C>T (p.Gln1470Ter)
c.*1875C>T (n.*1875C>T)
n.2067C>T
n.751C>T
c.*616C>T (n.*616C>T)
c.4360C>T (p.Gln1454Ter)
n.9540C>T
n.3005C>T
c.5200C>T (p.Gln1734Ter)
c.5284C>T (p.Gln1762Ter)
c.5332C>T (p.Gln1778Ter)
c.4306C>T (p.Gln1436Ter)
c.3887C>T
c.3448C>T (p.Gln1150Ter)
c.*1265C>T (n.*1265C>T)
c.4601C>T
c.5374C>T (p.Gln1792Ter)
c.5371C>T (p.Gln1791Ter)
c.5326C>T (p.Gln1776Ter)
c.4450C>T (p.Gln1484Ter)
c.4219C>T (p.Gln1407Ter)
10g.94298544A>CCA377642003PLCE1c.4409A>C (p.Gln1470Pro)
c.*1876A>C (n.*1876A>C)
n.2068A>C
n.752A>C
c.*617A>C (n.*617A>C)
c.4361A>C (p.Gln1454Pro)
n.9541A>C
n.3006A>C
c.5201A>C (p.Gln1734Pro)
c.5285A>C (p.Gln1762Pro)
c.5333A>C (p.Gln1778Pro)
c.4307A>C (p.Gln1436Pro)
c.3888A>C
c.3449A>C (p.Gln1150Pro)
c.*1266A>C (n.*1266A>C)
c.4602A>C
c.5375A>C (p.Gln1792Pro)
c.5372A>C (p.Gln1791Pro)
c.5327A>C (p.Gln1776Pro)
c.4451A>C (p.Gln1484Pro)
c.4220A>C (p.Gln1407Pro)
10g.94298544A>GCA377642004PLCE1c.4409A>G (p.Gln1470Arg)
c.*1876A>G (n.*1876A>G)
n.2068A>G
n.752A>G
c.*617A>G (n.*617A>G)
c.4361A>G (p.Gln1454Arg)
n.9541A>G
n.3006A>G
c.5201A>G (p.Gln1734Arg)
c.5285A>G (p.Gln1762Arg)
c.5333A>G (p.Gln1778Arg)
c.4307A>G (p.Gln1436Arg)
c.3888A>G
c.3449A>G (p.Gln1150Arg)
c.*1266A>G (n.*1266A>G)
c.4602A>G
c.5375A>G (p.Gln1792Arg)
c.5372A>G (p.Gln1791Arg)
c.5327A>G (p.Gln1776Arg)
c.4451A>G (p.Gln1484Arg)
c.4220A>G (p.Gln1407Arg)
10g.94298544A>TCA377642005PLCE1c.4409A>T (p.Gln1470Leu)
c.*1876A>T (n.*1876A>T)
n.2068A>T
n.752A>T
c.*617A>T (n.*617A>T)
c.4361A>T (p.Gln1454Leu)
n.9541A>T
n.3006A>T
c.5201A>T (p.Gln1734Leu)
c.5285A>T (p.Gln1762Leu)
c.5333A>T (p.Gln1778Leu)
c.4307A>T (p.Gln1436Leu)
c.3888A>T
c.3449A>T (p.Gln1150Leu)
c.*1266A>T (n.*1266A>T)
c.4602A>T
c.5375A>T (p.Gln1792Leu)
c.5372A>T (p.Gln1791Leu)
c.5327A>T (p.Gln1776Leu)
c.4451A>T (p.Gln1484Leu)
c.4220A>T (p.Gln1407Leu)
10g.94298545G>ACA470986555PLCE1c.4410G>A (p.Gln1470=)
c.*1877G>A (n.*1877G>A)
n.2069G>A
n.753G>A
c.*618G>A (n.*618G>A)
c.4362G>A (p.Gln1454=)
n.9542G>A
n.3007G>A
c.5202G>A (p.Gln1734=)
c.5286G>A (p.Gln1762=)
c.5334G>A (p.Gln1778=)
c.4308G>A (p.Gln1436=)
c.3889G>A
c.3450G>A (p.Gln1150=)
c.*1267G>A (n.*1267G>A)
c.4603G>A
c.5376G>A (p.Gln1792=)
c.5373G>A (p.Gln1791=)
c.5328G>A (p.Gln1776=)
c.4452G>A (p.Gln1484=)
c.4221G>A (p.Gln1407=)
10g.94298545G>CCA5613339PLCE1c.4410G>C (p.Gln1470His)
c.*1877G>C (n.*1877G>C)
n.2069G>C
n.753G>C
c.*618G>C (n.*618G>C)
c.4362G>C (p.Gln1454His)
n.9542G>C
n.3007G>C
c.5202G>C (p.Gln1734His)
c.5286G>C (p.Gln1762His)
c.5334G>C (p.Gln1778His)
c.4308G>C (p.Gln1436His)
c.3889G>C
c.3450G>C (p.Gln1150His)
c.*1267G>C (n.*1267G>C)
c.4603G>C
c.5376G>C (p.Gln1792His)
c.5373G>C (p.Gln1791His)
c.5328G>C (p.Gln1776His)
c.4452G>C (p.Gln1484His)
c.4221G>C (p.Gln1407His)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298545G=CA1928998432PLCE1c.4410G= (p.Gln1470=)
c.*1877G= (n.*1877G=)
n.2069G=
n.753G=
c.*618G= (n.*618G=)
c.4362G= (p.Gln1454=)
n.9542G=
n.3007G=
c.5202G= (p.Gln1734=)
c.5286G= (p.Gln1762=)
c.5334G= (p.Gln1778=)
c.4308G= (p.Gln1436=)
c.3889G=
c.3450G= (p.Gln1150=)
c.*1267G= (n.*1267G=)
c.4603G=
c.5376G= (p.Gln1792=)
c.5373G= (p.Gln1791=)
c.5328G= (p.Gln1776=)
c.4452G= (p.Gln1484=)
c.4221G= (p.Gln1407=)
10g.94298545G>TCA377642006PLCE1c.4410G>T (p.Gln1470His)
c.*1877G>T (n.*1877G>T)
n.2069G>T
n.753G>T
c.*618G>T (n.*618G>T)
c.4362G>T (p.Gln1454His)
n.9542G>T
n.3007G>T
c.5202G>T (p.Gln1734His)
c.5286G>T (p.Gln1762His)
c.5334G>T (p.Gln1778His)
c.4308G>T (p.Gln1436His)
c.3889G>T
c.3450G>T (p.Gln1150His)
c.*1267G>T (n.*1267G>T)
c.4603G>T
c.5376G>T (p.Gln1792His)
c.5373G>T (p.Gln1791His)
c.5328G>T (p.Gln1776His)
c.4452G>T (p.Gln1484His)
c.4221G>T (p.Gln1407His)
10g.94298546C>ACA377642007PLCE1c.4411C>A (p.His1471Asn)
c.*1878C>A (n.*1878C>A)
n.2070C>A
n.754C>A
c.*619C>A (n.*619C>A)
c.4363C>A (p.His1455Asn)
n.9543C>A
n.3008C>A
c.5203C>A (p.His1735Asn)
c.5287C>A (p.His1763Asn)
c.5335C>A (p.His1779Asn)
c.4309C>A (p.His1437Asn)
c.3890C>A
c.3451C>A (p.His1151Asn)
c.*1268C>A (n.*1268C>A)
c.4604C>A
c.5377C>A (p.His1793Asn)
c.5374C>A (p.His1792Asn)
c.5329C>A (p.His1777Asn)
c.4453C>A (p.His1485Asn)
c.4222C>A (p.His1408Asn)
10g.94298546C>GCA377642008PLCE1c.4411C>G (p.His1471Asp)
c.*1878C>G (n.*1878C>G)
n.2070C>G
n.754C>G
c.*619C>G (n.*619C>G)
c.4363C>G (p.His1455Asp)
n.9543C>G
n.3008C>G
c.5203C>G (p.His1735Asp)
c.5287C>G (p.His1763Asp)
c.5335C>G (p.His1779Asp)
c.4309C>G (p.His1437Asp)
c.3890C>G
c.3451C>G (p.His1151Asp)
c.*1268C>G (n.*1268C>G)
c.4604C>G
c.5377C>G (p.His1793Asp)
c.5374C>G (p.His1792Asp)
c.5329C>G (p.His1777Asp)
c.4453C>G (p.His1485Asp)
c.4222C>G (p.His1408Asp)
10g.94298546C>TCA377642009PLCE1c.4411C>T (p.His1471Tyr)
c.*1878C>T (n.*1878C>T)
n.2070C>T
n.754C>T
c.*619C>T (n.*619C>T)
c.4363C>T (p.His1455Tyr)
n.9543C>T
n.3008C>T
c.5203C>T (p.His1735Tyr)
c.5287C>T (p.His1763Tyr)
c.5335C>T (p.His1779Tyr)
c.4309C>T (p.His1437Tyr)
c.3890C>T
c.3451C>T (p.His1151Tyr)
c.*1268C>T (n.*1268C>T)
c.4604C>T
c.5377C>T (p.His1793Tyr)
c.5374C>T (p.His1792Tyr)
c.5329C>T (p.His1777Tyr)
c.4453C>T (p.His1485Tyr)
c.4222C>T (p.His1408Tyr)
10g.94298546_94298551delCA2789048721PLCE1c.4411_4416del (p.His1471_Thr1472del)
c.*1878_*1883del (n.*1878_*1883del)
n.2070_2075del
n.754_759del
c.*619_*624del (n.*619_*624del)
c.4363_4368del (p.His1455_Thr1456del)
n.9543_9548del
n.3008_3013del
c.5203_5208del (p.His1735_Thr1736del)
c.5287_5292del (p.His1763_Thr1764del)
c.5335_5340del (p.His1779_Thr1780del)
c.4309_4314del (p.His1437_Thr1438del)
c.3890_3895del
c.3451_3456del (p.His1151_Thr1152del)
c.*1268_*1273del (n.*1268_*1273del)
c.4604_4609del
c.5377_5382del (p.His1793_Thr1794del)
c.5374_5379del (p.His1792_Thr1793del)
c.5329_5334del (p.His1777_Thr1778del)
c.4453_4458del (p.His1485_Thr1486del)
c.4222_4227del (p.His1408_Thr1409del)
10g.94298547A>CCA377642010PLCE1c.4412A>C (p.His1471Pro)
c.*1879A>C (n.*1879A>C)
n.2071A>C
n.755A>C
c.*620A>C (n.*620A>C)
c.4364A>C (p.His1455Pro)
n.9544A>C
n.3009A>C
c.5204A>C (p.His1735Pro)
c.5288A>C (p.His1763Pro)
c.5336A>C (p.His1779Pro)
c.4310A>C (p.His1437Pro)
c.3891A>C
c.3452A>C (p.His1151Pro)
c.*1269A>C (n.*1269A>C)
c.4605A>C
c.5378A>C (p.His1793Pro)
c.5375A>C (p.His1792Pro)
c.5330A>C (p.His1777Pro)
c.4454A>C (p.His1485Pro)
c.4223A>C (p.His1408Pro)
10g.94298547A>GCA377642011PLCE1c.4412A>G (p.His1471Arg)
c.*1879A>G (n.*1879A>G)
n.2071A>G
n.755A>G
c.*620A>G (n.*620A>G)
c.4364A>G (p.His1455Arg)
n.9544A>G
n.3009A>G
c.5204A>G (p.His1735Arg)
c.5288A>G (p.His1763Arg)
c.5336A>G (p.His1779Arg)
c.4310A>G (p.His1437Arg)
c.3891A>G
c.3452A>G (p.His1151Arg)
c.*1269A>G (n.*1269A>G)
c.4605A>G
c.5378A>G (p.His1793Arg)
c.5375A>G (p.His1792Arg)
c.5330A>G (p.His1777Arg)
c.4454A>G (p.His1485Arg)
c.4223A>G (p.His1408Arg)
10g.94298547A>TCA377642012PLCE1c.4412A>T (p.His1471Leu)
c.*1879A>T (n.*1879A>T)
n.2071A>T
n.755A>T
c.*620A>T (n.*620A>T)
c.4364A>T (p.His1455Leu)
n.9544A>T
n.3009A>T
c.5204A>T (p.His1735Leu)
c.5288A>T (p.His1763Leu)
c.5336A>T (p.His1779Leu)
c.4310A>T (p.His1437Leu)
c.3891A>T
c.3452A>T (p.His1151Leu)
c.*1269A>T (n.*1269A>T)
c.4605A>T
c.5378A>T (p.His1793Leu)
c.5375A>T (p.His1792Leu)
c.5330A>T (p.His1777Leu)
c.4454A>T (p.His1485Leu)
c.4223A>T (p.His1408Leu)
10g.94298548C>ACA377642013PLCE1c.4413C>A (p.His1471Gln)
c.*1880C>A (n.*1880C>A)
n.2072C>A
n.756C>A
c.*621C>A (n.*621C>A)
c.4365C>A (p.His1455Gln)
n.9545C>A
n.3010C>A
c.5205C>A (p.His1735Gln)
c.5289C>A (p.His1763Gln)
c.5337C>A (p.His1779Gln)
c.4311C>A (p.His1437Gln)
c.3892C>A
c.3453C>A (p.His1151Gln)
c.*1270C>A (n.*1270C>A)
c.4606C>A
c.5379C>A (p.His1793Gln)
c.5376C>A (p.His1792Gln)
c.5331C>A (p.His1777Gln)
c.4455C>A (p.His1485Gln)
c.4224C>A (p.His1408Gln)
10g.94298548C=CA1928998433PLCE1c.4413C= (p.His1471=)
c.*1880C= (n.*1880C=)
n.2072C=
n.756C=
c.*621C= (n.*621C=)
c.4365C= (p.His1455=)
n.9545C=
n.3010C=
c.5205C= (p.His1735=)
c.5289C= (p.His1763=)
c.5337C= (p.His1779=)
c.4311C= (p.His1437=)
c.3892C=
c.3453C= (p.His1151=)
c.*1270C= (n.*1270C=)
c.4606C=
c.5379C= (p.His1793=)
c.5376C= (p.His1792=)
c.5331C= (p.His1777=)
c.4455C= (p.His1485=)
c.4224C= (p.His1408=)
10g.94298548C>GCA377642014PLCE1c.4413C>G (p.His1471Gln)
c.*1880C>G (n.*1880C>G)
n.2072C>G
n.756C>G
c.*621C>G (n.*621C>G)
c.4365C>G (p.His1455Gln)
n.9545C>G
n.3010C>G
c.5205C>G (p.His1735Gln)
c.5289C>G (p.His1763Gln)
c.5337C>G (p.His1779Gln)
c.4311C>G (p.His1437Gln)
c.3892C>G
c.3453C>G (p.His1151Gln)
c.*1270C>G (n.*1270C>G)
c.4606C>G
c.5379C>G (p.His1793Gln)
c.5376C>G (p.His1792Gln)
c.5331C>G (p.His1777Gln)
c.4455C>G (p.His1485Gln)
c.4224C>G (p.His1408Gln)
10g.94298548C>TCA470986557PLCE1c.4413C>T (p.His1471=)
c.*1880C>T (n.*1880C>T)
n.2072C>T
n.756C>T
c.*621C>T (n.*621C>T)
c.4365C>T (p.His1455=)
n.9545C>T
n.3010C>T
c.5205C>T (p.His1735=)
c.5289C>T (p.His1763=)
c.5337C>T (p.His1779=)
c.4311C>T (p.His1437=)
c.3892C>T
c.3453C>T (p.His1151=)
c.*1270C>T (n.*1270C>T)
c.4606C>T
c.5379C>T (p.His1793=)
c.5376C>T (p.His1792=)
c.5331C>T (p.His1777=)
c.4455C>T (p.His1485=)
c.4224C>T (p.His1408=)
dbSNP gnomAD v3 gnomAD v4
10g.94298549A>CCA377642015PLCE1c.4414A>C (p.Thr1472Pro)
c.*1881A>C (n.*1881A>C)
n.2073A>C
n.757A>C
c.*622A>C (n.*622A>C)
c.4366A>C (p.Thr1456Pro)
n.9546A>C
n.3011A>C
c.5206A>C (p.Thr1736Pro)
c.5290A>C (p.Thr1764Pro)
c.5338A>C (p.Thr1780Pro)
c.4312A>C (p.Thr1438Pro)
c.3893A>C
c.3454A>C (p.Thr1152Pro)
c.*1271A>C (n.*1271A>C)
c.4607A>C
c.5380A>C (p.Thr1794Pro)
c.5377A>C (p.Thr1793Pro)
c.5332A>C (p.Thr1778Pro)
c.4456A>C (p.Thr1486Pro)
c.4225A>C (p.Thr1409Pro)
10g.94298549A>GCA377642016PLCE1c.4414A>G (p.Thr1472Ala)
c.*1881A>G (n.*1881A>G)
n.2073A>G
n.757A>G
c.*622A>G (n.*622A>G)
c.4366A>G (p.Thr1456Ala)
n.9546A>G
n.3011A>G
c.5206A>G (p.Thr1736Ala)
c.5290A>G (p.Thr1764Ala)
c.5338A>G (p.Thr1780Ala)
c.4312A>G (p.Thr1438Ala)
c.3893A>G
c.3454A>G (p.Thr1152Ala)
c.*1271A>G (n.*1271A>G)
c.4607A>G
c.5380A>G (p.Thr1794Ala)
c.5377A>G (p.Thr1793Ala)
c.5332A>G (p.Thr1778Ala)
c.4456A>G (p.Thr1486Ala)
c.4225A>G (p.Thr1409Ala)
10g.94298549A>TCA377642017PLCE1c.4414A>T (p.Thr1472Ser)
c.*1881A>T (n.*1881A>T)
n.2073A>T
n.757A>T
c.*622A>T (n.*622A>T)
c.4366A>T (p.Thr1456Ser)
n.9546A>T
n.3011A>T
c.5206A>T (p.Thr1736Ser)
c.5290A>T (p.Thr1764Ser)
c.5338A>T (p.Thr1780Ser)
c.4312A>T (p.Thr1438Ser)
c.3893A>T
c.3454A>T (p.Thr1152Ser)
c.*1271A>T (n.*1271A>T)
c.4607A>T
c.5380A>T (p.Thr1794Ser)
c.5377A>T (p.Thr1793Ser)
c.5332A>T (p.Thr1778Ser)
c.4456A>T (p.Thr1486Ser)
c.4225A>T (p.Thr1409Ser)
10g.94298550C>ACA377642018PLCE1c.4415C>A (p.Thr1472Asn)
c.*1882C>A (n.*1882C>A)
n.2074C>A
n.758C>A
c.*623C>A (n.*623C>A)
c.4367C>A (p.Thr1456Asn)
n.9547C>A
n.3012C>A
c.5207C>A (p.Thr1736Asn)
c.5291C>A (p.Thr1764Asn)
c.5339C>A (p.Thr1780Asn)
c.4313C>A (p.Thr1438Asn)
c.3894C>A
c.3455C>A (p.Thr1152Asn)
c.*1272C>A (n.*1272C>A)
c.4608C>A
c.5381C>A (p.Thr1794Asn)
c.5378C>A (p.Thr1793Asn)
c.5333C>A (p.Thr1778Asn)
c.4457C>A (p.Thr1486Asn)
c.4226C>A (p.Thr1409Asn)
dbSNP
10g.94298550C=CA1928998434PLCE1c.4415C= (p.Thr1472=)
c.*1882C= (n.*1882C=)
n.2074C=
n.758C=
c.*623C= (n.*623C=)
c.4367C= (p.Thr1456=)
n.9547C=
n.3012C=
c.5207C= (p.Thr1736=)
c.5291C= (p.Thr1764=)
c.5339C= (p.Thr1780=)
c.4313C= (p.Thr1438=)
c.3894C=
c.3455C= (p.Thr1152=)
c.*1272C= (n.*1272C=)
c.4608C=
c.5381C= (p.Thr1794=)
c.5378C= (p.Thr1793=)
c.5333C= (p.Thr1778=)
c.4457C= (p.Thr1486=)
c.4226C= (p.Thr1409=)
10g.94298550C>GCA377642019PLCE1c.4415C>G (p.Thr1472Ser)
c.*1882C>G (n.*1882C>G)
n.2074C>G
n.758C>G
c.*623C>G (n.*623C>G)
c.4367C>G (p.Thr1456Ser)
n.9547C>G
n.3012C>G
c.5207C>G (p.Thr1736Ser)
c.5291C>G (p.Thr1764Ser)
c.5339C>G (p.Thr1780Ser)
c.4313C>G (p.Thr1438Ser)
c.3894C>G
c.3455C>G (p.Thr1152Ser)
c.*1272C>G (n.*1272C>G)
c.4608C>G
c.5381C>G (p.Thr1794Ser)
c.5378C>G (p.Thr1793Ser)
c.5333C>G (p.Thr1778Ser)
c.4457C>G (p.Thr1486Ser)
c.4226C>G (p.Thr1409Ser)
10g.94298550C>TCA5613340PLCE1c.4415C>T (p.Thr1472Ile)
c.*1882C>T (n.*1882C>T)
n.2074C>T
n.758C>T
c.*623C>T (n.*623C>T)
c.4367C>T (p.Thr1456Ile)
n.9547C>T
n.3012C>T
c.5207C>T (p.Thr1736Ile)
c.5291C>T (p.Thr1764Ile)
c.5339C>T (p.Thr1780Ile)
c.4313C>T (p.Thr1438Ile)
c.3894C>T
c.3455C>T (p.Thr1152Ile)
c.*1272C>T (n.*1272C>T)
c.4608C>T
c.5381C>T (p.Thr1794Ile)
c.5378C>T (p.Thr1793Ile)
c.5333C>T (p.Thr1778Ile)
c.4457C>T (p.Thr1486Ile)
c.4226C>T (p.Thr1409Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298551C>ACA470986559PLCE1c.4416C>A (p.Thr1472=)
c.*1883C>A (n.*1883C>A)
n.2075C>A
n.759C>A
c.*624C>A (n.*624C>A)
c.4368C>A (p.Thr1456=)
n.9548C>A
n.3013C>A
c.5208C>A (p.Thr1736=)
c.5292C>A (p.Thr1764=)
c.5340C>A (p.Thr1780=)
c.4314C>A (p.Thr1438=)
c.3895C>A
c.3456C>A (p.Thr1152=)
c.*1273C>A (n.*1273C>A)
c.4609C>A
c.5382C>A (p.Thr1794=)
c.5379C>A (p.Thr1793=)
c.5334C>A (p.Thr1778=)
c.4458C>A (p.Thr1486=)
c.4227C>A (p.Thr1409=)
dbSNP
10g.94298551C=CA1928998435PLCE1c.4416C= (p.Thr1472=)
c.*1883C= (n.*1883C=)
n.2075C=
n.759C=
c.*624C= (n.*624C=)
c.4368C= (p.Thr1456=)
n.9548C=
n.3013C=
c.5208C= (p.Thr1736=)
c.5292C= (p.Thr1764=)
c.5340C= (p.Thr1780=)
c.4314C= (p.Thr1438=)
c.3895C=
c.3456C= (p.Thr1152=)
c.*1273C= (n.*1273C=)
c.4609C=
c.5382C= (p.Thr1794=)
c.5379C= (p.Thr1793=)
c.5334C= (p.Thr1778=)
c.4458C= (p.Thr1486=)
c.4227C= (p.Thr1409=)
10g.94298551C>GCA470986560PLCE1c.4416C>G (p.Thr1472=)
c.*1883C>G (n.*1883C>G)
n.2075C>G
n.759C>G
c.*624C>G (n.*624C>G)
c.4368C>G (p.Thr1456=)
n.9548C>G
n.3013C>G
c.5208C>G (p.Thr1736=)
c.5292C>G (p.Thr1764=)
c.5340C>G (p.Thr1780=)
c.4314C>G (p.Thr1438=)
c.3895C>G
c.3456C>G (p.Thr1152=)
c.*1273C>G (n.*1273C>G)
c.4609C>G
c.5382C>G (p.Thr1794=)
c.5379C>G (p.Thr1793=)
c.5334C>G (p.Thr1778=)
c.4458C>G (p.Thr1486=)
c.4227C>G (p.Thr1409=)
10g.94298551C>TCA5613341PLCE1c.4416C>T (p.Thr1472=)
c.*1883C>T (n.*1883C>T)
n.2075C>T
n.759C>T
c.*624C>T (n.*624C>T)
c.4368C>T (p.Thr1456=)
n.9548C>T
n.3013C>T
c.5208C>T (p.Thr1736=)
c.5292C>T (p.Thr1764=)
c.5340C>T (p.Thr1780=)
c.4314C>T (p.Thr1438=)
c.3895C>T
c.3456C>T (p.Thr1152=)
c.*1273C>T (n.*1273C>T)
c.4609C>T
c.5382C>T (p.Thr1794=)
c.5379C>T (p.Thr1793=)
c.5334C>T (p.Thr1778=)
c.4458C>T (p.Thr1486=)
c.4227C>T (p.Thr1409=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298552G>ACA5613342PLCE1c.4417G>A (p.Ala1473Thr)
c.*1884G>A (n.*1884G>A)
n.2076G>A
n.760G>A
c.*625G>A (n.*625G>A)
c.4369G>A (p.Ala1457Thr)
n.9549G>A
n.3014G>A
c.5209G>A (p.Ala1737Thr)
c.5293G>A (p.Ala1765Thr)
c.5341G>A (p.Ala1781Thr)
c.4315G>A (p.Ala1439Thr)
c.3896G>A
c.3457G>A (p.Ala1153Thr)
c.*1274G>A (n.*1274G>A)
c.4610G>A
c.5383G>A (p.Ala1795Thr)
c.5380G>A (p.Ala1794Thr)
c.5335G>A (p.Ala1779Thr)
c.4459G>A (p.Ala1487Thr)
c.4228G>A (p.Ala1410Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298552G>CCA377642020PLCE1c.4417G>C (p.Ala1473Pro)
c.*1884G>C (n.*1884G>C)
n.2076G>C
n.760G>C
c.*625G>C (n.*625G>C)
c.4369G>C (p.Ala1457Pro)
n.9549G>C
n.3014G>C
c.5209G>C (p.Ala1737Pro)
c.5293G>C (p.Ala1765Pro)
c.5341G>C (p.Ala1781Pro)
c.4315G>C (p.Ala1439Pro)
c.3896G>C
c.3457G>C (p.Ala1153Pro)
c.*1274G>C (n.*1274G>C)
c.4610G>C
c.5383G>C (p.Ala1795Pro)
c.5380G>C (p.Ala1794Pro)
c.5335G>C (p.Ala1779Pro)
c.4459G>C (p.Ala1487Pro)
c.4228G>C (p.Ala1410Pro)
10g.94298552G=CA1928998436PLCE1c.4417G= (p.Ala1473=)
c.*1884G= (n.*1884G=)
n.2076G=
n.760G=
c.*625G= (n.*625G=)
c.4369G= (p.Ala1457=)
n.9549G=
n.3014G=
c.5209G= (p.Ala1737=)
c.5293G= (p.Ala1765=)
c.5341G= (p.Ala1781=)
c.4315G= (p.Ala1439=)
c.3896G=
c.3457G= (p.Ala1153=)
c.*1274G= (n.*1274G=)
c.4610G=
c.5383G= (p.Ala1795=)
c.5380G= (p.Ala1794=)
c.5335G= (p.Ala1779=)
c.4459G= (p.Ala1487=)
c.4228G= (p.Ala1410=)
10g.94298552G>TCA377642021PLCE1c.4417G>T (p.Ala1473Ser)
c.*1884G>T (n.*1884G>T)
n.2076G>T
n.760G>T
c.*625G>T (n.*625G>T)
c.4369G>T (p.Ala1457Ser)
n.9549G>T
n.3014G>T
c.5209G>T (p.Ala1737Ser)
c.5293G>T (p.Ala1765Ser)
c.5341G>T (p.Ala1781Ser)
c.4315G>T (p.Ala1439Ser)
c.3896G>T
c.3457G>T (p.Ala1153Ser)
c.*1274G>T (n.*1274G>T)
c.4610G>T
c.5383G>T (p.Ala1795Ser)
c.5380G>T (p.Ala1794Ser)
c.5335G>T (p.Ala1779Ser)
c.4459G>T (p.Ala1487Ser)
c.4228G>T (p.Ala1410Ser)
dbSNP gnomAD v4
10g.94298553C>ACA377642022PLCE1c.4418C>A (p.Ala1473Asp)
c.*1885C>A (n.*1885C>A)
n.2077C>A
n.761C>A
c.*626C>A (n.*626C>A)
c.4370C>A (p.Ala1457Asp)
n.9550C>A
n.3015C>A
c.5210C>A (p.Ala1737Asp)
c.5294C>A (p.Ala1765Asp)
c.5342C>A (p.Ala1781Asp)
c.4316C>A (p.Ala1439Asp)
c.3897C>A
c.3458C>A (p.Ala1153Asp)
c.*1275C>A (n.*1275C>A)
c.4611C>A
c.5384C>A (p.Ala1795Asp)
c.5381C>A (p.Ala1794Asp)
c.5336C>A (p.Ala1779Asp)
c.4460C>A (p.Ala1487Asp)
c.4229C>A (p.Ala1410Asp)
10g.94298553C=CA1928998437PLCE1c.4418C= (p.Ala1473=)
c.*1885C= (n.*1885C=)
n.2077C=
n.761C=
c.*626C= (n.*626C=)
c.4370C= (p.Ala1457=)
n.9550C=
n.3015C=
c.5210C= (p.Ala1737=)
c.5294C= (p.Ala1765=)
c.5342C= (p.Ala1781=)
c.4316C= (p.Ala1439=)
c.3897C=
c.3458C= (p.Ala1153=)
c.*1275C= (n.*1275C=)
c.4611C=
c.5384C= (p.Ala1795=)
c.5381C= (p.Ala1794=)
c.5336C= (p.Ala1779=)
c.4460C= (p.Ala1487=)
c.4229C= (p.Ala1410=)
10g.94298553C>GCA377642023PLCE1c.4418C>G (p.Ala1473Gly)
c.*1885C>G (n.*1885C>G)
n.2077C>G
n.761C>G
c.*626C>G (n.*626C>G)
c.4370C>G (p.Ala1457Gly)
n.9550C>G
n.3015C>G
c.5210C>G (p.Ala1737Gly)
c.5294C>G (p.Ala1765Gly)
c.5342C>G (p.Ala1781Gly)
c.4316C>G (p.Ala1439Gly)
c.3897C>G
c.3458C>G (p.Ala1153Gly)
c.*1275C>G (n.*1275C>G)
c.4611C>G
c.5384C>G (p.Ala1795Gly)
c.5381C>G (p.Ala1794Gly)
c.5336C>G (p.Ala1779Gly)
c.4460C>G (p.Ala1487Gly)
c.4229C>G (p.Ala1410Gly)
10g.94298553C>TCA377642024PLCE1c.4418C>T (p.Ala1473Val)
c.*1885C>T (n.*1885C>T)
n.2077C>T
n.761C>T
c.*626C>T (n.*626C>T)
c.4370C>T (p.Ala1457Val)
n.9550C>T
n.3015C>T
c.5210C>T (p.Ala1737Val)
c.5294C>T (p.Ala1765Val)
c.5342C>T (p.Ala1781Val)
c.4316C>T (p.Ala1439Val)
c.3897C>T
c.3458C>T (p.Ala1153Val)
c.*1275C>T (n.*1275C>T)
c.4611C>T
c.5384C>T (p.Ala1795Val)
c.5381C>T (p.Ala1794Val)
c.5336C>T (p.Ala1779Val)
c.4460C>T (p.Ala1487Val)
c.4229C>T (p.Ala1410Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.94298554C>ACA470986561PLCE1c.4419C>A (p.Ala1473=)
c.*1886C>A (n.*1886C>A)
n.2078C>A
n.762C>A
c.*627C>A (n.*627C>A)
c.4371C>A (p.Ala1457=)
n.9551C>A
n.3016C>A
c.5211C>A (p.Ala1737=)
c.5295C>A (p.Ala1765=)
c.5343C>A (p.Ala1781=)
c.4317C>A (p.Ala1439=)
c.3898C>A
c.3459C>A (p.Ala1153=)
c.*1276C>A (n.*1276C>A)
c.4612C>A
c.5385C>A (p.Ala1795=)
c.5382C>A (p.Ala1794=)
c.5337C>A (p.Ala1779=)
c.4461C>A (p.Ala1487=)
c.4230C>A (p.Ala1410=)
10g.94298554C>GCA470986562PLCE1c.4419C>G (p.Ala1473=)
c.*1886C>G (n.*1886C>G)
n.2078C>G
n.762C>G
c.*627C>G (n.*627C>G)
c.4371C>G (p.Ala1457=)
n.9551C>G
n.3016C>G
c.5211C>G (p.Ala1737=)
c.5295C>G (p.Ala1765=)
c.5343C>G (p.Ala1781=)
c.4317C>G (p.Ala1439=)
c.3898C>G
c.3459C>G (p.Ala1153=)
c.*1276C>G (n.*1276C>G)
c.4612C>G
c.5385C>G (p.Ala1795=)
c.5382C>G (p.Ala1794=)
c.5337C>G (p.Ala1779=)
c.4461C>G (p.Ala1487=)
c.4230C>G (p.Ala1410=)
10g.94298554C>TCA470986563PLCE1c.4419C>T (p.Ala1473=)
c.*1886C>T (n.*1886C>T)
n.2078C>T
n.762C>T
c.*627C>T (n.*627C>T)
c.4371C>T (p.Ala1457=)
n.9551C>T
n.3016C>T
c.5211C>T (p.Ala1737=)
c.5295C>T (p.Ala1765=)
c.5343C>T (p.Ala1781=)
c.4317C>T (p.Ala1439=)
c.3898C>T
c.3459C>T (p.Ala1153=)
c.*1276C>T (n.*1276C>T)
c.4612C>T
c.5385C>T (p.Ala1795=)
c.5382C>T (p.Ala1794=)
c.5337C>T (p.Ala1779=)
c.4461C>T (p.Ala1487=)
c.4230C>T (p.Ala1410=)
10g.94298555T>ACA377642025PLCE1c.4420T>A (p.Cys1474Ser)
c.*1887T>A (n.*1887T>A)
n.2079T>A
n.763T>A
c.*628T>A (n.*628T>A)
c.4372T>A (p.Cys1458Ser)
n.9552T>A
n.3017T>A
c.5212T>A (p.Cys1738Ser)
c.5296T>A (p.Cys1766Ser)
c.5344T>A (p.Cys1782Ser)
c.4318T>A (p.Cys1440Ser)
c.3899T>A
c.3460T>A (p.Cys1154Ser)
c.*1277T>A (n.*1277T>A)
c.4613T>A
c.5386T>A (p.Cys1796Ser)
c.5383T>A (p.Cys1795Ser)
c.5338T>A (p.Cys1780Ser)
c.4462T>A (p.Cys1488Ser)
c.4231T>A (p.Cys1411Ser)
10g.94298555T>CCA377642027PLCE1c.4420T>C (p.Cys1474Arg)
c.*1887T>C (n.*1887T>C)
n.2079T>C
n.763T>C
c.*628T>C (n.*628T>C)
c.4372T>C (p.Cys1458Arg)
n.9552T>C
n.3017T>C
c.5212T>C (p.Cys1738Arg)
c.5296T>C (p.Cys1766Arg)
c.5344T>C (p.Cys1782Arg)
c.4318T>C (p.Cys1440Arg)
c.3899T>C
c.3460T>C (p.Cys1154Arg)
c.*1277T>C (n.*1277T>C)
c.4613T>C
c.5386T>C (p.Cys1796Arg)
c.5383T>C (p.Cys1795Arg)
c.5338T>C (p.Cys1780Arg)
c.4462T>C (p.Cys1488Arg)
c.4231T>C (p.Cys1411Arg)
10g.94298555T>GCA377642026PLCE1c.4420T>G (p.Cys1474Gly)
c.*1887T>G (n.*1887T>G)
n.2079T>G
n.763T>G
c.*628T>G (n.*628T>G)
c.4372T>G (p.Cys1458Gly)
n.9552T>G
n.3017T>G
c.5212T>G (p.Cys1738Gly)
c.5296T>G (p.Cys1766Gly)
c.5344T>G (p.Cys1782Gly)
c.4318T>G (p.Cys1440Gly)
c.3899T>G
c.3460T>G (p.Cys1154Gly)
c.*1277T>G (n.*1277T>G)
c.4613T>G
c.5386T>G (p.Cys1796Gly)
c.5383T>G (p.Cys1795Gly)
c.5338T>G (p.Cys1780Gly)
c.4462T>G (p.Cys1488Gly)
c.4231T>G (p.Cys1411Gly)
10g.94298556G>ACA377642028PLCE1c.4421G>A (p.Cys1474Tyr)
c.*1888G>A (n.*1888G>A)
n.2080G>A
n.764G>A
c.*629G>A (n.*629G>A)
c.4373G>A (p.Cys1458Tyr)
n.9553G>A
n.3018G>A
c.5213G>A (p.Cys1738Tyr)
c.5297G>A (p.Cys1766Tyr)
c.5345G>A (p.Cys1782Tyr)
c.4319G>A (p.Cys1440Tyr)
c.3900G>A
c.3461G>A (p.Cys1154Tyr)
c.*1278G>A (n.*1278G>A)
c.4614G>A
c.5387G>A (p.Cys1796Tyr)
c.5384G>A (p.Cys1795Tyr)
c.5339G>A (p.Cys1780Tyr)
c.4463G>A (p.Cys1488Tyr)
c.4232G>A (p.Cys1411Tyr)
gnomAD v4
10g.94298556G>CCA377642029PLCE1c.4421G>C (p.Cys1474Ser)
c.*1888G>C (n.*1888G>C)
n.2080G>C
n.764G>C
c.*629G>C (n.*629G>C)
c.4373G>C (p.Cys1458Ser)
n.9553G>C
n.3018G>C
c.5213G>C (p.Cys1738Ser)
c.5297G>C (p.Cys1766Ser)
c.5345G>C (p.Cys1782Ser)
c.4319G>C (p.Cys1440Ser)
c.3900G>C
c.3461G>C (p.Cys1154Ser)
c.*1278G>C (n.*1278G>C)
c.4614G>C
c.5387G>C (p.Cys1796Ser)
c.5384G>C (p.Cys1795Ser)
c.5339G>C (p.Cys1780Ser)
c.4463G>C (p.Cys1488Ser)
c.4232G>C (p.Cys1411Ser)
10g.94298556G>TCA377642030PLCE1c.4421G>T (p.Cys1474Phe)
c.*1888G>T (n.*1888G>T)
n.2080G>T
n.764G>T
c.*629G>T (n.*629G>T)
c.4373G>T (p.Cys1458Phe)
n.9553G>T
n.3018G>T
c.5213G>T (p.Cys1738Phe)
c.5297G>T (p.Cys1766Phe)
c.5345G>T (p.Cys1782Phe)
c.4319G>T (p.Cys1440Phe)
c.3900G>T
c.3461G>T (p.Cys1154Phe)
c.*1278G>T (n.*1278G>T)
c.4614G>T
c.5387G>T (p.Cys1796Phe)
c.5384G>T (p.Cys1795Phe)
c.5339G>T (p.Cys1780Phe)
c.4463G>T (p.Cys1488Phe)
c.4232G>T (p.Cys1411Phe)
10g.94298556_94298557insGGCA2789048722PLCE1c.4421_4422insGG (p.Cys1474TrpfsTer5)
c.*1888_*1889insGG (n.*1888_*1889insGG)
n.2080_2081insGG
n.764_765insGG
c.*629_*630insGG (n.*629_*630insGG)
c.4373_4374insGG (p.Cys1458TrpfsTer5)
n.9553_9554insGG
n.3018_3019insGG
c.5213_5214insGG (p.Cys1738TrpfsTer5)
c.5297_5298insGG (p.Cys1766TrpfsTer5)
c.5345_5346insGG (p.Cys1782TrpfsTer5)
c.4319_4320insGG (p.Cys1440TrpfsTer5)
c.3900_3901insGG
c.3461_3462insGG (p.Cys1154TrpfsTer5)
c.*1278_*1279insGG (n.*1278_*1279insGG)
c.4614_4615insGG
c.5387_5388insGG (p.Cys1796TrpfsTer5)
c.5384_5385insGG (p.Cys1795TrpfsTer5)
c.5339_5340insGG (p.Cys1780TrpfsTer5)
c.4463_4464insGG (p.Cys1488TrpfsTer5)
c.4232_4233insGG (p.Cys1411TrpfsTer5)
10g.94298557T>ACA377642031PLCE1c.4422T>A (p.Cys1474Ter)
c.*1889T>A (n.*1889T>A)
n.2081T>A
n.765T>A
c.*630T>A (n.*630T>A)
c.4374T>A (p.Cys1458Ter)
n.9554T>A
n.3019T>A
c.5214T>A (p.Cys1738Ter)
c.5298T>A (p.Cys1766Ter)
c.5346T>A (p.Cys1782Ter)
c.4320T>A (p.Cys1440Ter)
c.3901T>A
c.3462T>A (p.Cys1154Ter)
c.*1279T>A (n.*1279T>A)
c.4615T>A
c.5388T>A (p.Cys1796Ter)
c.5385T>A (p.Cys1795Ter)
c.5340T>A (p.Cys1780Ter)
c.4464T>A (p.Cys1488Ter)
c.4233T>A (p.Cys1411Ter)
10g.94298557T>CCA470986564PLCE1c.4422T>C (p.Cys1474=)
c.*1889T>C (n.*1889T>C)
n.2081T>C
n.765T>C
c.*630T>C (n.*630T>C)
c.4374T>C (p.Cys1458=)
n.9554T>C
n.3019T>C
c.5214T>C (p.Cys1738=)
c.5298T>C (p.Cys1766=)
c.5346T>C (p.Cys1782=)
c.4320T>C (p.Cys1440=)
c.3901T>C
c.3462T>C (p.Cys1154=)
c.*1279T>C (n.*1279T>C)
c.4615T>C
c.5388T>C (p.Cys1796=)
c.5385T>C (p.Cys1795=)
c.5340T>C (p.Cys1780=)
c.4464T>C (p.Cys1488=)
c.4233T>C (p.Cys1411=)
10g.94298557T>GCA377642032PLCE1c.4422T>G (p.Cys1474Trp)
c.*1889T>G (n.*1889T>G)
n.2081T>G
n.765T>G
c.*630T>G (n.*630T>G)
c.4374T>G (p.Cys1458Trp)
n.9554T>G
n.3019T>G
c.5214T>G (p.Cys1738Trp)
c.5298T>G (p.Cys1766Trp)
c.5346T>G (p.Cys1782Trp)
c.4320T>G (p.Cys1440Trp)
c.3901T>G
c.3462T>G (p.Cys1154Trp)
c.*1279T>G (n.*1279T>G)
c.4615T>G
c.5388T>G (p.Cys1796Trp)
c.5385T>G (p.Cys1795Trp)
c.5340T>G (p.Cys1780Trp)
c.4464T>G (p.Cys1488Trp)
c.4233T>G (p.Cys1411Trp)
10g.94298558C>ACA377642033PLCE1c.4423C>A (p.Gln1475Lys)
c.*1890C>A (n.*1890C>A)
n.2082C>A
n.766C>A
c.*631C>A (n.*631C>A)
c.4375C>A (p.Gln1459Lys)
n.9555C>A
n.3020C>A
c.5215C>A (p.Gln1739Lys)
c.5299C>A (p.Gln1767Lys)
c.5347C>A (p.Gln1783Lys)
c.4321C>A (p.Gln1441Lys)
c.3902C>A
c.3463C>A (p.Gln1155Lys)
c.*1280C>A (n.*1280C>A)
c.4616C>A
c.5389C>A (p.Gln1797Lys)
c.5386C>A (p.Gln1796Lys)
c.5341C>A (p.Gln1781Lys)
c.4465C>A (p.Gln1489Lys)
c.4234C>A (p.Gln1412Lys)
10g.94298558C>GCA377642034PLCE1c.4423C>G (p.Gln1475Glu)
c.*1890C>G (n.*1890C>G)
n.2082C>G
n.766C>G
c.*631C>G (n.*631C>G)
c.4375C>G (p.Gln1459Glu)
n.9555C>G
n.3020C>G
c.5215C>G (p.Gln1739Glu)
c.5299C>G (p.Gln1767Glu)
c.5347C>G (p.Gln1783Glu)
c.4321C>G (p.Gln1441Glu)
c.3902C>G
c.3463C>G (p.Gln1155Glu)
c.*1280C>G (n.*1280C>G)
c.4616C>G
c.5389C>G (p.Gln1797Glu)
c.5386C>G (p.Gln1796Glu)
c.5341C>G (p.Gln1781Glu)
c.4465C>G (p.Gln1489Glu)
c.4234C>G (p.Gln1412Glu)
gnomAD v4
10g.94298558C>TCA377642035PLCE1c.4423C>T (p.Gln1475Ter)
c.*1890C>T (n.*1890C>T)
n.2082C>T
n.766C>T
c.*631C>T (n.*631C>T)
c.4375C>T (p.Gln1459Ter)
n.9555C>T
n.3020C>T
c.5215C>T (p.Gln1739Ter)
c.5299C>T (p.Gln1767Ter)
c.5347C>T (p.Gln1783Ter)
c.4321C>T (p.Gln1441Ter)
c.3902C>T
c.3463C>T (p.Gln1155Ter)
c.*1280C>T (n.*1280C>T)
c.4616C>T
c.5389C>T (p.Gln1797Ter)
c.5386C>T (p.Gln1796Ter)
c.5341C>T (p.Gln1781Ter)
c.4465C>T (p.Gln1489Ter)
c.4234C>T (p.Gln1412Ter)
10g.94298559A=CA1928998438PLCE1c.4424A= (p.Gln1475=)
c.*1891A= (n.*1891A=)
n.2083A=
n.767A=
c.*632A= (n.*632A=)
c.4376A= (p.Gln1459=)
n.9556A=
n.3021A=
c.5216A= (p.Gln1739=)
c.5300A= (p.Gln1767=)
c.5348A= (p.Gln1783=)
c.4322A= (p.Gln1441=)
c.3903A=
c.3464A= (p.Gln1155=)
c.*1281A= (n.*1281A=)
c.4617A=
c.5390A= (p.Gln1797=)
c.5387A= (p.Gln1796=)
c.5342A= (p.Gln1781=)
c.4466A= (p.Gln1489=)
c.4235A= (p.Gln1412=)
10g.94298559A>CCA377642036PLCE1c.4424A>C (p.Gln1475Pro)
c.*1891A>C (n.*1891A>C)
n.2083A>C
n.767A>C
c.*632A>C (n.*632A>C)
c.4376A>C (p.Gln1459Pro)
n.9556A>C
n.3021A>C
c.5216A>C (p.Gln1739Pro)
c.5300A>C (p.Gln1767Pro)
c.5348A>C (p.Gln1783Pro)
c.4322A>C (p.Gln1441Pro)
c.3903A>C
c.3464A>C (p.Gln1155Pro)
c.*1281A>C (n.*1281A>C)
c.4617A>C
c.5390A>C (p.Gln1797Pro)
c.5387A>C (p.Gln1796Pro)
c.5342A>C (p.Gln1781Pro)
c.4466A>C (p.Gln1489Pro)
c.4235A>C (p.Gln1412Pro)
10g.94298559A>GCA5613343PLCE1c.4424A>G (p.Gln1475Arg)
c.*1891A>G (n.*1891A>G)
n.2083A>G
n.767A>G
c.*632A>G (n.*632A>G)
c.4376A>G (p.Gln1459Arg)
n.9556A>G
n.3021A>G
c.5216A>G (p.Gln1739Arg)
c.5300A>G (p.Gln1767Arg)
c.5348A>G (p.Gln1783Arg)
c.4322A>G (p.Gln1441Arg)
c.3903A>G
c.3464A>G (p.Gln1155Arg)
c.*1281A>G (n.*1281A>G)
c.4617A>G
c.5390A>G (p.Gln1797Arg)
c.5387A>G (p.Gln1796Arg)
c.5342A>G (p.Gln1781Arg)
c.4466A>G (p.Gln1489Arg)
c.4235A>G (p.Gln1412Arg)
dbSNP ExAC gnomAD v2
10g.94298559A>TCA377642037PLCE1c.4424A>T (p.Gln1475Leu)
c.*1891A>T (n.*1891A>T)
n.2083A>T
n.767A>T
c.*632A>T (n.*632A>T)
c.4376A>T (p.Gln1459Leu)
n.9556A>T
n.3021A>T
c.5216A>T (p.Gln1739Leu)
c.5300A>T (p.Gln1767Leu)
c.5348A>T (p.Gln1783Leu)
c.4322A>T (p.Gln1441Leu)
c.3903A>T
c.3464A>T (p.Gln1155Leu)
c.*1281A>T (n.*1281A>T)
c.4617A>T
c.5390A>T (p.Gln1797Leu)
c.5387A>T (p.Gln1796Leu)
c.5342A>T (p.Gln1781Leu)
c.4466A>T (p.Gln1489Leu)
c.4235A>T (p.Gln1412Leu)
10g.94298560G>ACA470986567PLCE1c.4425G>A (p.Gln1475=)
c.*1892G>A (n.*1892G>A)
n.2084G>A
n.768G>A
c.*633G>A (n.*633G>A)
c.4377G>A (p.Gln1459=)
n.9557G>A
n.3022G>A
c.5217G>A (p.Gln1739=)
c.5301G>A (p.Gln1767=)
c.5349G>A (p.Gln1783=)
c.4323G>A (p.Gln1441=)
c.3904G>A
c.3465G>A (p.Gln1155=)
c.*1282G>A (n.*1282G>A)
c.4618G>A
c.5391G>A (p.Gln1797=)
c.5388G>A (p.Gln1796=)
c.5343G>A (p.Gln1781=)
c.4467G>A (p.Gln1489=)
c.4236G>A (p.Gln1412=)
dbSNP
10g.94298560G>CCA377642038PLCE1c.4425G>C (p.Gln1475His)
c.*1892G>C (n.*1892G>C)
n.2084G>C
n.768G>C
c.*633G>C (n.*633G>C)
c.4377G>C (p.Gln1459His)
n.9557G>C
n.3022G>C
c.5217G>C (p.Gln1739His)
c.5301G>C (p.Gln1767His)
c.5349G>C (p.Gln1783His)
c.4323G>C (p.Gln1441His)
c.3904G>C
c.3465G>C (p.Gln1155His)
c.*1282G>C (n.*1282G>C)
c.4618G>C
c.5391G>C (p.Gln1797His)
c.5388G>C (p.Gln1796His)
c.5343G>C (p.Gln1781His)
c.4467G>C (p.Gln1489His)
c.4236G>C (p.Gln1412His)
10g.94298560G=CA1928998439PLCE1c.4425G= (p.Gln1475=)
c.*1892G= (n.*1892G=)
n.2084G=
n.768G=
c.*633G= (n.*633G=)
c.4377G= (p.Gln1459=)
n.9557G=
n.3022G=
c.5217G= (p.Gln1739=)
c.5301G= (p.Gln1767=)
c.5349G= (p.Gln1783=)
c.4323G= (p.Gln1441=)
c.3904G=
c.3465G= (p.Gln1155=)
c.*1282G= (n.*1282G=)
c.4618G=
c.5391G= (p.Gln1797=)
c.5388G= (p.Gln1796=)
c.5343G= (p.Gln1781=)
c.4467G= (p.Gln1489=)
c.4236G= (p.Gln1412=)
10g.94298560G>TCA377642039PLCE1c.4425G>T (p.Gln1475His)
c.*1892G>T (n.*1892G>T)
n.2084G>T
n.768G>T
c.*633G>T (n.*633G>T)
c.4377G>T (p.Gln1459His)
n.9557G>T
n.3022G>T
c.5217G>T (p.Gln1739His)
c.5301G>T (p.Gln1767His)
c.5349G>T (p.Gln1783His)
c.4323G>T (p.Gln1441His)
c.3904G>T
c.3465G>T (p.Gln1155His)
c.*1282G>T (n.*1282G>T)
c.4618G>T
c.5391G>T (p.Gln1797His)
c.5388G>T (p.Gln1796His)
c.5343G>T (p.Gln1781His)
c.4467G>T (p.Gln1489His)
c.4236G>T (p.Gln1412His)
gnomAD v4
10g.94298561C>ACA377642041PLCE1c.4426C>A (p.Leu1476Met)
c.*1893C>A (n.*1893C>A)
n.2085C>A
n.769C>A
c.*634C>A (n.*634C>A)
c.4378C>A (p.Leu1460Met)
n.9558C>A
n.3023C>A
c.5218C>A (p.Leu1740Met)
c.5302C>A (p.Leu1768Met)
c.5350C>A (p.Leu1784Met)
c.4324C>A (p.Leu1442Met)
c.3905C>A
c.3466C>A (p.Leu1156Met)
c.*1283C>A (n.*1283C>A)
c.4619C>A
c.5392C>A (p.Leu1798Met)
c.5389C>A (p.Leu1797Met)
c.5344C>A (p.Leu1782Met)
c.4468C>A (p.Leu1490Met)
c.4237C>A (p.Leu1413Met)
10g.94298561C>GCA377642040PLCE1c.4426C>G (p.Leu1476Val)
c.*1893C>G (n.*1893C>G)
n.2085C>G
n.769C>G
c.*634C>G (n.*634C>G)
c.4378C>G (p.Leu1460Val)
n.9558C>G
n.3023C>G
c.5218C>G (p.Leu1740Val)
c.5302C>G (p.Leu1768Val)
c.5350C>G (p.Leu1784Val)
c.4324C>G (p.Leu1442Val)
c.3905C>G
c.3466C>G (p.Leu1156Val)
c.*1283C>G (n.*1283C>G)
c.4619C>G
c.5392C>G (p.Leu1798Val)
c.5389C>G (p.Leu1797Val)
c.5344C>G (p.Leu1782Val)
c.4468C>G (p.Leu1490Val)
c.4237C>G (p.Leu1413Val)
10g.94298561C>TCA470986569PLCE1c.4426C>T (p.Leu1476=)
c.*1893C>T (n.*1893C>T)
n.2085C>T
n.769C>T
c.*634C>T (n.*634C>T)
c.4378C>T (p.Leu1460=)
n.9558C>T
n.3023C>T
c.5218C>T (p.Leu1740=)
c.5302C>T (p.Leu1768=)
c.5350C>T (p.Leu1784=)
c.4324C>T (p.Leu1442=)
c.3905C>T
c.3466C>T (p.Leu1156=)
c.*1283C>T (n.*1283C>T)
c.4619C>T
c.5392C>T (p.Leu1798=)
c.5389C>T (p.Leu1797=)
c.5344C>T (p.Leu1782=)
c.4468C>T (p.Leu1490=)
c.4237C>T (p.Leu1413=)
10g.94298562T>ACA377642042PLCE1c.4427T>A (p.Leu1476Gln)
c.*1894T>A (n.*1894T>A)
n.2086T>A
n.770T>A
c.*635T>A (n.*635T>A)
c.4379T>A (p.Leu1460Gln)
n.9559T>A
n.3024T>A
c.5219T>A (p.Leu1740Gln)
c.5303T>A (p.Leu1768Gln)
c.5351T>A (p.Leu1784Gln)
c.4325T>A (p.Leu1442Gln)
c.3906T>A
c.3467T>A (p.Leu1156Gln)
c.*1284T>A (n.*1284T>A)
c.4620T>A
c.5393T>A (p.Leu1798Gln)
c.5390T>A (p.Leu1797Gln)
c.5345T>A (p.Leu1782Gln)
c.4469T>A (p.Leu1490Gln)
c.4238T>A (p.Leu1413Gln)
10g.94298562T>CCA377642043PLCE1c.4427T>C (p.Leu1476Pro)
c.*1894T>C (n.*1894T>C)
n.2086T>C
n.770T>C
c.*635T>C (n.*635T>C)
c.4379T>C (p.Leu1460Pro)
n.9559T>C
n.3024T>C
c.5219T>C (p.Leu1740Pro)
c.5303T>C (p.Leu1768Pro)
c.5351T>C (p.Leu1784Pro)
c.4325T>C (p.Leu1442Pro)
c.3906T>C
c.3467T>C (p.Leu1156Pro)
c.*1284T>C (n.*1284T>C)
c.4620T>C
c.5393T>C (p.Leu1798Pro)
c.5390T>C (p.Leu1797Pro)
c.5345T>C (p.Leu1782Pro)
c.4469T>C (p.Leu1490Pro)
c.4238T>C (p.Leu1413Pro)
10g.94298562T>GCA377642044PLCE1c.4427T>G (p.Leu1476Arg)
c.*1894T>G (n.*1894T>G)
n.2086T>G
n.770T>G
c.*635T>G (n.*635T>G)
c.4379T>G (p.Leu1460Arg)
n.9559T>G
n.3024T>G
c.5219T>G (p.Leu1740Arg)
c.5303T>G (p.Leu1768Arg)
c.5351T>G (p.Leu1784Arg)
c.4325T>G (p.Leu1442Arg)
c.3906T>G
c.3467T>G (p.Leu1156Arg)
c.*1284T>G (n.*1284T>G)
c.4620T>G
c.5393T>G (p.Leu1798Arg)
c.5390T>G (p.Leu1797Arg)
c.5345T>G (p.Leu1782Arg)
c.4469T>G (p.Leu1490Arg)
c.4238T>G (p.Leu1413Arg)
10g.94298563G>ACA470986570PLCE1c.4428G>A (p.Leu1476=)
c.*1895G>A (n.*1895G>A)
n.2087G>A
n.771G>A
c.*636G>A (n.*636G>A)
c.4380G>A (p.Leu1460=)
n.9560G>A
n.3025G>A
c.5220G>A (p.Leu1740=)
c.5304G>A (p.Leu1768=)
c.5352G>A (p.Leu1784=)
c.4326G>A (p.Leu1442=)
c.3907G>A
c.3468G>A (p.Leu1156=)
c.*1285G>A (n.*1285G>A)
c.4621G>A
c.5394G>A (p.Leu1798=)
c.5391G>A (p.Leu1797=)
c.5346G>A (p.Leu1782=)
c.4470G>A (p.Leu1490=)
c.4239G>A (p.Leu1413=)
10g.94298563G>CCA470986572PLCE1c.4428G>C (p.Leu1476=)
c.*1895G>C (n.*1895G>C)
n.2087G>C
n.771G>C
c.*636G>C (n.*636G>C)
c.4380G>C (p.Leu1460=)
n.9560G>C
n.3025G>C
c.5220G>C (p.Leu1740=)
c.5304G>C (p.Leu1768=)
c.5352G>C (p.Leu1784=)
c.4326G>C (p.Leu1442=)
c.3907G>C
c.3468G>C (p.Leu1156=)
c.*1285G>C (n.*1285G>C)
c.4621G>C
c.5394G>C (p.Leu1798=)
c.5391G>C (p.Leu1797=)
c.5346G>C (p.Leu1782=)
c.4470G>C (p.Leu1490=)
c.4239G>C (p.Leu1413=)
10g.94298563G>TCA470986571PLCE1c.4428G>T (p.Leu1476=)
c.*1895G>T (n.*1895G>T)
n.2087G>T
n.771G>T
c.*636G>T (n.*636G>T)
c.4380G>T (p.Leu1460=)
n.9560G>T
n.3025G>T
c.5220G>T (p.Leu1740=)
c.5304G>T (p.Leu1768=)
c.5352G>T (p.Leu1784=)
c.4326G>T (p.Leu1442=)
c.3907G>T
c.3468G>T (p.Leu1156=)
c.*1285G>T (n.*1285G>T)
c.4621G>T
c.5394G>T (p.Leu1798=)
c.5391G>T (p.Leu1797=)
c.5346G>T (p.Leu1782=)
c.4470G>T (p.Leu1490=)
c.4239G>T (p.Leu1413=)
10g.94298564C>ACA377642045PLCE1c.4429C>A (p.Leu1477Met)
c.*1896C>A (n.*1896C>A)
n.2088C>A
n.772C>A
c.*637C>A (n.*637C>A)
c.4381C>A (p.Leu1461Met)
n.9561C>A
n.3026C>A
c.5221C>A (p.Leu1741Met)
c.5305C>A (p.Leu1769Met)
c.5353C>A (p.Leu1785Met)
c.4327C>A (p.Leu1443Met)
c.3908C>A
c.3469C>A (p.Leu1157Met)
c.*1286C>A (n.*1286C>A)
c.4622C>A
c.5395C>A (p.Leu1799Met)
c.5392C>A (p.Leu1798Met)
c.5347C>A (p.Leu1783Met)
c.4471C>A (p.Leu1491Met)
c.4240C>A (p.Leu1414Met)
10g.94298564C>GCA377642046PLCE1c.4429C>G (p.Leu1477Val)
c.*1896C>G (n.*1896C>G)
n.2088C>G
n.772C>G
c.*637C>G (n.*637C>G)
c.4381C>G (p.Leu1461Val)
n.9561C>G
n.3026C>G
c.5221C>G (p.Leu1741Val)
c.5305C>G (p.Leu1769Val)
c.5353C>G (p.Leu1785Val)
c.4327C>G (p.Leu1443Val)
c.3908C>G
c.3469C>G (p.Leu1157Val)
c.*1286C>G (n.*1286C>G)
c.4622C>G
c.5395C>G (p.Leu1799Val)
c.5392C>G (p.Leu1798Val)
c.5347C>G (p.Leu1783Val)
c.4471C>G (p.Leu1491Val)
c.4240C>G (p.Leu1414Val)
10g.94298564C>TCA470986574PLCE1c.4429C>T (p.Leu1477=)
c.*1896C>T (n.*1896C>T)
n.2088C>T
n.772C>T
c.*637C>T (n.*637C>T)
c.4381C>T (p.Leu1461=)
n.9561C>T
n.3026C>T
c.5221C>T (p.Leu1741=)
c.5305C>T (p.Leu1769=)
c.5353C>T (p.Leu1785=)
c.4327C>T (p.Leu1443=)
c.3908C>T
c.3469C>T (p.Leu1157=)
c.*1286C>T (n.*1286C>T)
c.4622C>T
c.5395C>T (p.Leu1799=)
c.5392C>T (p.Leu1798=)
c.5347C>T (p.Leu1783=)
c.4471C>T (p.Leu1491=)
c.4240C>T (p.Leu1414=)
10g.94298565T>ACA377642047PLCE1c.4430T>A (p.Leu1477Gln)
c.*1897T>A (n.*1897T>A)
n.2089T>A
n.773T>A
c.*638T>A (n.*638T>A)
c.4382T>A (p.Leu1461Gln)
n.9562T>A
n.3027T>A
c.5222T>A (p.Leu1741Gln)
c.5306T>A (p.Leu1769Gln)
c.5354T>A (p.Leu1785Gln)
c.4328T>A (p.Leu1443Gln)
c.3909T>A
c.3470T>A (p.Leu1157Gln)
c.*1287T>A (n.*1287T>A)
c.4623T>A
c.5396T>A (p.Leu1799Gln)
c.5393T>A (p.Leu1798Gln)
c.5348T>A (p.Leu1783Gln)
c.4472T>A (p.Leu1491Gln)
c.4241T>A (p.Leu1414Gln)
10g.94298565T>CCA377642048PLCE1c.4430T>C (p.Leu1477Pro)
c.*1897T>C (n.*1897T>C)
n.2089T>C
n.773T>C
c.*638T>C (n.*638T>C)
c.4382T>C (p.Leu1461Pro)
n.9562T>C
n.3027T>C
c.5222T>C (p.Leu1741Pro)
c.5306T>C (p.Leu1769Pro)
c.5354T>C (p.Leu1785Pro)
c.4328T>C (p.Leu1443Pro)
c.3909T>C
c.3470T>C (p.Leu1157Pro)
c.*1287T>C (n.*1287T>C)
c.4623T>C
c.5396T>C (p.Leu1799Pro)
c.5393T>C (p.Leu1798Pro)
c.5348T>C (p.Leu1783Pro)
c.4472T>C (p.Leu1491Pro)
c.4241T>C (p.Leu1414Pro)
10g.94298565T>GCA377642049PLCE1c.4430T>G (p.Leu1477Arg)
c.*1897T>G (n.*1897T>G)
n.2089T>G
n.773T>G
c.*638T>G (n.*638T>G)
c.4382T>G (p.Leu1461Arg)
n.9562T>G
n.3027T>G
c.5222T>G (p.Leu1741Arg)
c.5306T>G (p.Leu1769Arg)
c.5354T>G (p.Leu1785Arg)
c.4328T>G (p.Leu1443Arg)
c.3909T>G
c.3470T>G (p.Leu1157Arg)
c.*1287T>G (n.*1287T>G)
c.4623T>G
c.5396T>G (p.Leu1799Arg)
c.5393T>G (p.Leu1798Arg)
c.5348T>G (p.Leu1783Arg)
c.4472T>G (p.Leu1491Arg)
c.4241T>G (p.Leu1414Arg)
10g.94298566G>ACA470986577PLCE1c.4431G>A (p.Leu1477=)
c.*1898G>A (n.*1898G>A)
n.2090G>A
n.774G>A
c.*639G>A (n.*639G>A)
c.4383G>A (p.Leu1461=)
n.9563G>A
n.3028G>A
c.5223G>A (p.Leu1741=)
c.5307G>A (p.Leu1769=)
c.5355G>A (p.Leu1785=)
c.4329G>A (p.Leu1443=)
c.3910G>A
c.3471G>A (p.Leu1157=)
c.*1288G>A (n.*1288G>A)
c.4624G>A
c.5397G>A (p.Leu1799=)
c.5394G>A (p.Leu1798=)
c.5349G>A (p.Leu1783=)
c.4473G>A (p.Leu1491=)
c.4242G>A (p.Leu1414=)
dbSNP gnomAD v3 gnomAD v4
10g.94298566G>CCA470986578PLCE1c.4431G>C (p.Leu1477=)
c.*1898G>C (n.*1898G>C)
n.2090G>C
n.774G>C
c.*639G>C (n.*639G>C)
c.4383G>C (p.Leu1461=)
n.9563G>C
n.3028G>C
c.5223G>C (p.Leu1741=)
c.5307G>C (p.Leu1769=)
c.5355G>C (p.Leu1785=)
c.4329G>C (p.Leu1443=)
c.3910G>C
c.3471G>C (p.Leu1157=)
c.*1288G>C (n.*1288G>C)
c.4624G>C
c.5397G>C (p.Leu1799=)
c.5394G>C (p.Leu1798=)
c.5349G>C (p.Leu1783=)
c.4473G>C (p.Leu1491=)
c.4242G>C (p.Leu1414=)
10g.94298566G=CA1928998440PLCE1c.4431G= (p.Leu1477=)
c.*1898G= (n.*1898G=)
n.2090G=
n.774G=
c.*639G= (n.*639G=)
c.4383G= (p.Leu1461=)
n.9563G=
n.3028G=
c.5223G= (p.Leu1741=)
c.5307G= (p.Leu1769=)
c.5355G= (p.Leu1785=)
c.4329G= (p.Leu1443=)
c.3910G=
c.3471G= (p.Leu1157=)
c.*1288G= (n.*1288G=)
c.4624G=
c.5397G= (p.Leu1799=)
c.5394G= (p.Leu1798=)
c.5349G= (p.Leu1783=)
c.4473G= (p.Leu1491=)
c.4242G= (p.Leu1414=)
10g.94298566G>TCA470986579PLCE1c.4431G>T (p.Leu1477=)
c.*1898G>T (n.*1898G>T)
n.2090G>T
n.774G>T
c.*639G>T (n.*639G>T)
c.4383G>T (p.Leu1461=)
n.9563G>T
n.3028G>T
c.5223G>T (p.Leu1741=)
c.5307G>T (p.Leu1769=)
c.5355G>T (p.Leu1785=)
c.4329G>T (p.Leu1443=)
c.3910G>T
c.3471G>T (p.Leu1157=)
c.*1288G>T (n.*1288G>T)
c.4624G>T
c.5397G>T (p.Leu1799=)
c.5394G>T (p.Leu1798=)
c.5349G>T (p.Leu1783=)
c.4473G>T (p.Leu1491=)
c.4242G>T (p.Leu1414=)
10g.94298567A>CCA470986580PLCE1c.4432A>C (p.Arg1478=)
c.*1899A>C (n.*1899A>C)
n.2091A>C
n.775A>C
c.*640A>C (n.*640A>C)
c.4384A>C (p.Arg1462=)
n.9564A>C
n.3029A>C
c.5224A>C (p.Arg1742=)
c.5308A>C (p.Arg1770=)
c.5356A>C (p.Arg1786=)
c.4330A>C (p.Arg1444=)
c.3911A>C
c.3472A>C (p.Arg1158=)
c.*1289A>C (n.*1289A>C)
c.4625A>C
c.5398A>C (p.Arg1800=)
c.5395A>C (p.Arg1799=)
c.5350A>C (p.Arg1784=)
c.4474A>C (p.Arg1492=)
c.4243A>C (p.Arg1415=)
10g.94298567A>GCA377642050PLCE1c.4432A>G (p.Arg1478Gly)
c.*1899A>G (n.*1899A>G)
n.2091A>G
n.775A>G
c.*640A>G (n.*640A>G)
c.4384A>G (p.Arg1462Gly)
n.9564A>G
n.3029A>G
c.5224A>G (p.Arg1742Gly)
c.5308A>G (p.Arg1770Gly)
c.5356A>G (p.Arg1786Gly)
c.4330A>G (p.Arg1444Gly)
c.3911A>G
c.3472A>G (p.Arg1158Gly)
c.*1289A>G (n.*1289A>G)
c.4625A>G
c.5398A>G (p.Arg1800Gly)
c.5395A>G (p.Arg1799Gly)
c.5350A>G (p.Arg1784Gly)
c.4474A>G (p.Arg1492Gly)
c.4243A>G (p.Arg1415Gly)
10g.94298567A>TCA377642051PLCE1c.4432A>T (p.Arg1478Ter)
c.*1899A>T (n.*1899A>T)
n.2091A>T
n.775A>T
c.*640A>T (n.*640A>T)
c.4384A>T (p.Arg1462Ter)
n.9564A>T
n.3029A>T
c.5224A>T (p.Arg1742Ter)
c.5308A>T (p.Arg1770Ter)
c.5356A>T (p.Arg1786Ter)
c.4330A>T (p.Arg1444Ter)
c.3911A>T
c.3472A>T (p.Arg1158Ter)
c.*1289A>T (n.*1289A>T)
c.4625A>T
c.5398A>T (p.Arg1800Ter)
c.5395A>T (p.Arg1799Ter)
c.5350A>T (p.Arg1784Ter)
c.4474A>T (p.Arg1492Ter)
c.4243A>T (p.Arg1415Ter)
10g.94298568G>ACA377642052PLCE1c.4433G>A (p.Arg1478Lys)
c.*1900G>A (n.*1900G>A)
n.2092G>A
n.776G>A
c.*641G>A (n.*641G>A)
c.4385G>A (p.Arg1462Lys)
n.9565G>A
n.3030G>A
c.5225G>A (p.Arg1742Lys)
c.5309G>A (p.Arg1770Lys)
c.5357G>A (p.Arg1786Lys)
c.4331G>A (p.Arg1444Lys)
c.3912G>A
c.3473G>A (p.Arg1158Lys)
c.*1290G>A (n.*1290G>A)
c.4626G>A
c.5399G>A (p.Arg1800Lys)
c.5396G>A (p.Arg1799Lys)
c.5351G>A (p.Arg1784Lys)
c.4475G>A (p.Arg1492Lys)
c.4244G>A (p.Arg1415Lys)
dbSNP gnomAD v2 gnomAD v4
10g.94298568G>CCA377642053PLCE1c.4433G>C (p.Arg1478Thr)
c.*1900G>C (n.*1900G>C)
n.2092G>C
n.776G>C
c.*641G>C (n.*641G>C)
c.4385G>C (p.Arg1462Thr)
n.9565G>C
n.3030G>C
c.5225G>C (p.Arg1742Thr)
c.5309G>C (p.Arg1770Thr)
c.5357G>C (p.Arg1786Thr)
c.4331G>C (p.Arg1444Thr)
c.3912G>C
c.3473G>C (p.Arg1158Thr)
c.*1290G>C (n.*1290G>C)
c.4626G>C
c.5399G>C (p.Arg1800Thr)
c.5396G>C (p.Arg1799Thr)
c.5351G>C (p.Arg1784Thr)
c.4475G>C (p.Arg1492Thr)
c.4244G>C (p.Arg1415Thr)
10g.94298568G=CA1928998441PLCE1c.4433G= (p.Arg1478=)
c.*1900G= (n.*1900G=)
n.2092G=
n.776G=
c.*641G= (n.*641G=)
c.4385G= (p.Arg1462=)
n.9565G=
n.3030G=
c.5225G= (p.Arg1742=)
c.5309G= (p.Arg1770=)
c.5357G= (p.Arg1786=)
c.4331G= (p.Arg1444=)
c.3912G=
c.3473G= (p.Arg1158=)
c.*1290G= (n.*1290G=)
c.4626G=
c.5399G= (p.Arg1800=)
c.5396G= (p.Arg1799=)
c.5351G= (p.Arg1784=)
c.4475G= (p.Arg1492=)
c.4244G= (p.Arg1415=)
10g.94298568G>TCA377642054PLCE1c.4433G>T (p.Arg1478Ile)
c.*1900G>T (n.*1900G>T)
n.2092G>T
n.776G>T
c.*641G>T (n.*641G>T)
c.4385G>T (p.Arg1462Ile)
n.9565G>T
n.3030G>T
c.5225G>T (p.Arg1742Ile)
c.5309G>T (p.Arg1770Ile)
c.5357G>T (p.Arg1786Ile)
c.4331G>T (p.Arg1444Ile)
c.3912G>T
c.3473G>T (p.Arg1158Ile)
c.*1290G>T (n.*1290G>T)
c.4626G>T
c.5399G>T (p.Arg1800Ile)
c.5396G>T (p.Arg1799Ile)
c.5351G>T (p.Arg1784Ile)
c.4475G>T (p.Arg1492Ile)
c.4244G>T (p.Arg1415Ile)
10g.94298569A=CA1928998442PLCE1c.4434A= (p.Arg1478=)
c.*1901A= (n.*1901A=)
n.2093A=
n.777A=
c.*642A= (n.*642A=)
c.4386A= (p.Arg1462=)
n.9566A=
n.3031A=
c.5226A= (p.Arg1742=)
c.5310A= (p.Arg1770=)
c.5358A= (p.Arg1786=)
c.4332A= (p.Arg1444=)
c.3913A=
c.3474A= (p.Arg1158=)
c.*1291A= (n.*1291A=)
c.4627A=
c.5400A= (p.Arg1800=)
c.5397A= (p.Arg1799=)
c.5352A= (p.Arg1784=)
c.4476A= (p.Arg1492=)
c.4245A= (p.Arg1415=)
10g.94298569A>CCA377642055PLCE1c.4434A>C (p.Arg1478Ser)
c.*1901A>C (n.*1901A>C)
n.2093A>C
n.777A>C
c.*642A>C (n.*642A>C)
c.4386A>C (p.Arg1462Ser)
n.9566A>C
n.3031A>C
c.5226A>C (p.Arg1742Ser)
c.5310A>C (p.Arg1770Ser)
c.5358A>C (p.Arg1786Ser)
c.4332A>C (p.Arg1444Ser)
c.3913A>C
c.3474A>C (p.Arg1158Ser)
c.*1291A>C (n.*1291A>C)
c.4627A>C
c.5400A>C (p.Arg1800Ser)
c.5397A>C (p.Arg1799Ser)
c.5352A>C (p.Arg1784Ser)
c.4476A>C (p.Arg1492Ser)
c.4245A>C (p.Arg1415Ser)
10g.94298569A>GCA5613345PLCE1c.4434A>G (p.Arg1478=)
c.*1901A>G (n.*1901A>G)
n.2093A>G
n.777A>G
c.*642A>G (n.*642A>G)
c.4386A>G (p.Arg1462=)
n.9566A>G
n.3031A>G
c.5226A>G (p.Arg1742=)
c.5310A>G (p.Arg1770=)
c.5358A>G (p.Arg1786=)
c.4332A>G (p.Arg1444=)
c.3913A>G
c.3474A>G (p.Arg1158=)
c.*1291A>G (n.*1291A>G)
c.4627A>G
c.5400A>G (p.Arg1800=)
c.5397A>G (p.Arg1799=)
c.5352A>G (p.Arg1784=)
c.4476A>G (p.Arg1492=)
c.4245A>G (p.Arg1415=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298569A>TCA5613344PLCE1c.4434A>T (p.Arg1478Ser)
c.*1901A>T (n.*1901A>T)
n.2093A>T
n.777A>T
c.*642A>T (n.*642A>T)
c.4386A>T (p.Arg1462Ser)
n.9566A>T
n.3031A>T
c.5226A>T (p.Arg1742Ser)
c.5310A>T (p.Arg1770Ser)
c.5358A>T (p.Arg1786Ser)
c.4332A>T (p.Arg1444Ser)
c.3913A>T
c.3474A>T (p.Arg1158Ser)
c.*1291A>T (n.*1291A>T)
c.4627A>T
c.5400A>T (p.Arg1800Ser)
c.5397A>T (p.Arg1799Ser)
c.5352A>T (p.Arg1784Ser)
c.4476A>T (p.Arg1492Ser)
c.4245A>T (p.Arg1415Ser)
dbSNP ExAC
10g.94298570A>CCA377642056PLCE1c.4435A>C (p.Thr1479Pro)
c.*1902A>C (n.*1902A>C)
n.2094A>C
n.778A>C
c.*643A>C (n.*643A>C)
c.4387A>C (p.Thr1463Pro)
n.9567A>C
n.3032A>C
c.5227A>C (p.Thr1743Pro)
c.5311A>C (p.Thr1771Pro)
c.5359A>C (p.Thr1787Pro)
c.4333A>C (p.Thr1445Pro)
c.3914A>C
c.3475A>C (p.Thr1159Pro)
c.*1292A>C (n.*1292A>C)
c.4628A>C
c.5401A>C (p.Thr1801Pro)
c.5398A>C (p.Thr1800Pro)
c.5353A>C (p.Thr1785Pro)
c.4477A>C (p.Thr1493Pro)
c.4246A>C (p.Thr1416Pro)
gnomAD v4
10g.94298570A>GCA377642058PLCE1c.4435A>G (p.Thr1479Ala)
c.*1902A>G (n.*1902A>G)
n.2094A>G
n.778A>G
c.*643A>G (n.*643A>G)
c.4387A>G (p.Thr1463Ala)
n.9567A>G
n.3032A>G
c.5227A>G (p.Thr1743Ala)
c.5311A>G (p.Thr1771Ala)
c.5359A>G (p.Thr1787Ala)
c.4333A>G (p.Thr1445Ala)
c.3914A>G
c.3475A>G (p.Thr1159Ala)
c.*1292A>G (n.*1292A>G)
c.4628A>G
c.5401A>G (p.Thr1801Ala)
c.5398A>G (p.Thr1800Ala)
c.5353A>G (p.Thr1785Ala)
c.4477A>G (p.Thr1493Ala)
c.4246A>G (p.Thr1416Ala)
10g.94298570A>TCA377642057PLCE1c.4435A>T (p.Thr1479Ser)
c.*1902A>T (n.*1902A>T)
n.2094A>T
n.778A>T
c.*643A>T (n.*643A>T)
c.4387A>T (p.Thr1463Ser)
n.9567A>T
n.3032A>T
c.5227A>T (p.Thr1743Ser)
c.5311A>T (p.Thr1771Ser)
c.5359A>T (p.Thr1787Ser)
c.4333A>T (p.Thr1445Ser)
c.3914A>T
c.3475A>T (p.Thr1159Ser)
c.*1292A>T (n.*1292A>T)
c.4628A>T
c.5401A>T (p.Thr1801Ser)
c.5398A>T (p.Thr1800Ser)
c.5353A>T (p.Thr1785Ser)
c.4477A>T (p.Thr1493Ser)
c.4246A>T (p.Thr1416Ser)
10g.94298571C>ACA377642059PLCE1c.4436C>A (p.Thr1479Asn)
c.*1903C>A (n.*1903C>A)
n.2095C>A
n.779C>A
c.*644C>A (n.*644C>A)
c.4388C>A (p.Thr1463Asn)
n.9568C>A
n.3033C>A
c.5228C>A (p.Thr1743Asn)
c.5312C>A (p.Thr1771Asn)
c.5360C>A (p.Thr1787Asn)
c.4334C>A (p.Thr1445Asn)
c.3915C>A
c.3476C>A (p.Thr1159Asn)
c.*1293C>A (n.*1293C>A)
c.4629C>A
c.5402C>A (p.Thr1801Asn)
c.5399C>A (p.Thr1800Asn)
c.5354C>A (p.Thr1785Asn)
c.4478C>A (p.Thr1493Asn)
c.4247C>A (p.Thr1416Asn)
10g.94298571C>GCA377642061PLCE1c.4436C>G (p.Thr1479Ser)
c.*1903C>G (n.*1903C>G)
n.2095C>G
n.779C>G
c.*644C>G (n.*644C>G)
c.4388C>G (p.Thr1463Ser)
n.9568C>G
n.3033C>G
c.5228C>G (p.Thr1743Ser)
c.5312C>G (p.Thr1771Ser)
c.5360C>G (p.Thr1787Ser)
c.4334C>G (p.Thr1445Ser)
c.3915C>G
c.3476C>G (p.Thr1159Ser)
c.*1293C>G (n.*1293C>G)
c.4629C>G
c.5402C>G (p.Thr1801Ser)
c.5399C>G (p.Thr1800Ser)
c.5354C>G (p.Thr1785Ser)
c.4478C>G (p.Thr1493Ser)
c.4247C>G (p.Thr1416Ser)
10g.94298571C>TCA377642060PLCE1c.4436C>T (p.Thr1479Ile)
c.*1903C>T (n.*1903C>T)
n.2095C>T
n.779C>T
c.*644C>T (n.*644C>T)
c.4388C>T (p.Thr1463Ile)
n.9568C>T
n.3033C>T
c.5228C>T (p.Thr1743Ile)
c.5312C>T (p.Thr1771Ile)
c.5360C>T (p.Thr1787Ile)
c.4334C>T (p.Thr1445Ile)
c.3915C>T
c.3476C>T (p.Thr1159Ile)
c.*1293C>T (n.*1293C>T)
c.4629C>T
c.5402C>T (p.Thr1801Ile)
c.5399C>T (p.Thr1800Ile)
c.5354C>T (p.Thr1785Ile)
c.4478C>T (p.Thr1493Ile)
c.4247C>T (p.Thr1416Ile)
10g.94298572T>ACA470986582PLCE1c.4437T>A (p.Thr1479=)
c.*1904T>A (n.*1904T>A)
n.2096T>A
n.780T>A
c.*645T>A (n.*645T>A)
c.4389T>A (p.Thr1463=)
n.9569T>A
n.3034T>A
c.5229T>A (p.Thr1743=)
c.5313T>A (p.Thr1771=)
c.5361T>A (p.Thr1787=)
c.4335T>A (p.Thr1445=)
c.3916T>A
c.3477T>A (p.Thr1159=)
c.*1294T>A (n.*1294T>A)
c.4630T>A
c.5403T>A (p.Thr1801=)
c.5400T>A (p.Thr1800=)
c.5355T>A (p.Thr1785=)
c.4479T>A (p.Thr1493=)
c.4248T>A (p.Thr1416=)
10g.94298572T>CCA470986583PLCE1c.4437T>C (p.Thr1479=)
c.*1904T>C (n.*1904T>C)
n.2096T>C
n.780T>C
c.*645T>C (n.*645T>C)
c.4389T>C (p.Thr1463=)
n.9569T>C
n.3034T>C
c.5229T>C (p.Thr1743=)
c.5313T>C (p.Thr1771=)
c.5361T>C (p.Thr1787=)
c.4335T>C (p.Thr1445=)
c.3916T>C
c.3477T>C (p.Thr1159=)
c.*1294T>C (n.*1294T>C)
c.4630T>C
c.5403T>C (p.Thr1801=)
c.5400T>C (p.Thr1800=)
c.5355T>C (p.Thr1785=)
c.4479T>C (p.Thr1493=)
c.4248T>C (p.Thr1416=)
dbSNP
10g.94298572T>GCA470986584PLCE1c.4437T>G (p.Thr1479=)
c.*1904T>G (n.*1904T>G)
n.2096T>G
n.780T>G
c.*645T>G (n.*645T>G)
c.4389T>G (p.Thr1463=)
n.9569T>G
n.3034T>G
c.5229T>G (p.Thr1743=)
c.5313T>G (p.Thr1771=)
c.5361T>G (p.Thr1787=)
c.4335T>G (p.Thr1445=)
c.3916T>G
c.3477T>G (p.Thr1159=)
c.*1294T>G (n.*1294T>G)
c.4630T>G
c.5403T>G (p.Thr1801=)
c.5400T>G (p.Thr1800=)
c.5355T>G (p.Thr1785=)
c.4479T>G (p.Thr1493=)
c.4248T>G (p.Thr1416=)
10g.94298572T=CA1928998443PLCE1c.4437T= (p.Thr1479=)
c.*1904T= (n.*1904T=)
n.2096T=
n.780T=
c.*645T= (n.*645T=)
c.4389T= (p.Thr1463=)
n.9569T=
n.3034T=
c.5229T= (p.Thr1743=)
c.5313T= (p.Thr1771=)
c.5361T= (p.Thr1787=)
c.4335T= (p.Thr1445=)
c.3916T=
c.3477T= (p.Thr1159=)
c.*1294T= (n.*1294T=)
c.4630T=
c.5403T= (p.Thr1801=)
c.5400T= (p.Thr1800=)
c.5355T= (p.Thr1785=)
c.4479T= (p.Thr1493=)
c.4248T= (p.Thr1416=)
10g.94298573T>ACA377642062PLCE1c.4438T>A (p.Tyr1480Asn)
c.*1905T>A (n.*1905T>A)
n.2097T>A
n.781T>A
c.*646T>A (n.*646T>A)
c.4390T>A (p.Tyr1464Asn)
n.9570T>A
n.3035T>A
c.5230T>A (p.Tyr1744Asn)
c.5314T>A (p.Tyr1772Asn)
c.5362T>A (p.Tyr1788Asn)
c.4336T>A (p.Tyr1446Asn)
c.3917T>A
c.3478T>A (p.Tyr1160Asn)
c.*1295T>A (n.*1295T>A)
c.4631T>A
c.5404T>A (p.Tyr1802Asn)
c.5401T>A (p.Tyr1801Asn)
c.5356T>A (p.Tyr1786Asn)
c.4480T>A (p.Tyr1494Asn)
c.4249T>A (p.Tyr1417Asn)
10g.94298573T>CCA377642064PLCE1c.4438T>C (p.Tyr1480His)
c.*1905T>C (n.*1905T>C)
n.2097T>C
n.781T>C
c.*646T>C (n.*646T>C)
c.4390T>C (p.Tyr1464His)
n.9570T>C
n.3035T>C
c.5230T>C (p.Tyr1744His)
c.5314T>C (p.Tyr1772His)
c.5362T>C (p.Tyr1788His)
c.4336T>C (p.Tyr1446His)
c.3917T>C
c.3478T>C (p.Tyr1160His)
c.*1295T>C (n.*1295T>C)
c.4631T>C
c.5404T>C (p.Tyr1802His)
c.5401T>C (p.Tyr1801His)
c.5356T>C (p.Tyr1786His)
c.4480T>C (p.Tyr1494His)
c.4249T>C (p.Tyr1417His)
10g.94298573T>GCA377642063PLCE1c.4438T>G (p.Tyr1480Asp)
c.*1905T>G (n.*1905T>G)
n.2097T>G
n.781T>G
c.*646T>G (n.*646T>G)
c.4390T>G (p.Tyr1464Asp)
n.9570T>G
n.3035T>G
c.5230T>G (p.Tyr1744Asp)
c.5314T>G (p.Tyr1772Asp)
c.5362T>G (p.Tyr1788Asp)
c.4336T>G (p.Tyr1446Asp)
c.3917T>G
c.3478T>G (p.Tyr1160Asp)
c.*1295T>G (n.*1295T>G)
c.4631T>G
c.5404T>G (p.Tyr1802Asp)
c.5401T>G (p.Tyr1801Asp)
c.5356T>G (p.Tyr1786Asp)
c.4480T>G (p.Tyr1494Asp)
c.4249T>G (p.Tyr1417Asp)
10g.94298574A>CCA377642065PLCE1c.4439A>C (p.Tyr1480Ser)
c.*1906A>C (n.*1906A>C)
n.2098A>C
n.782A>C
c.*647A>C (n.*647A>C)
c.4391A>C (p.Tyr1464Ser)
n.9571A>C
n.3036A>C
c.5231A>C (p.Tyr1744Ser)
c.5315A>C (p.Tyr1772Ser)
c.5363A>C (p.Tyr1788Ser)
c.4337A>C (p.Tyr1446Ser)
c.3918A>C
c.3479A>C (p.Tyr1160Ser)
c.*1296A>C (n.*1296A>C)
c.4632A>C
c.5405A>C (p.Tyr1802Ser)
c.5402A>C (p.Tyr1801Ser)
c.5357A>C (p.Tyr1786Ser)
c.4481A>C (p.Tyr1494Ser)
c.4250A>C (p.Tyr1417Ser)
10g.94298574A>GCA377642067PLCE1c.4439A>G (p.Tyr1480Cys)
c.*1906A>G (n.*1906A>G)
n.2098A>G
n.782A>G
c.*647A>G (n.*647A>G)
c.4391A>G (p.Tyr1464Cys)
n.9571A>G
n.3036A>G
c.5231A>G (p.Tyr1744Cys)
c.5315A>G (p.Tyr1772Cys)
c.5363A>G (p.Tyr1788Cys)
c.4337A>G (p.Tyr1446Cys)
c.3918A>G
c.3479A>G (p.Tyr1160Cys)
c.*1296A>G (n.*1296A>G)
c.4632A>G
c.5405A>G (p.Tyr1802Cys)
c.5402A>G (p.Tyr1801Cys)
c.5357A>G (p.Tyr1786Cys)
c.4481A>G (p.Tyr1494Cys)
c.4250A>G (p.Tyr1417Cys)
10g.94298574A>TCA377642066PLCE1c.4439A>T (p.Tyr1480Phe)
c.*1906A>T (n.*1906A>T)
n.2098A>T
n.782A>T
c.*647A>T (n.*647A>T)
c.4391A>T (p.Tyr1464Phe)
n.9571A>T
n.3036A>T
c.5231A>T (p.Tyr1744Phe)
c.5315A>T (p.Tyr1772Phe)
c.5363A>T (p.Tyr1788Phe)
c.4337A>T (p.Tyr1446Phe)
c.3918A>T
c.3479A>T (p.Tyr1160Phe)
c.*1296A>T (n.*1296A>T)
c.4632A>T
c.5405A>T (p.Tyr1802Phe)
c.5402A>T (p.Tyr1801Phe)
c.5357A>T (p.Tyr1786Phe)
c.4481A>T (p.Tyr1494Phe)
c.4250A>T (p.Tyr1417Phe)
10g.94298574dupCA2573145877PLCE1c.4439dup (p.Tyr1480Ter)
c.*1906dup (n.*1906dup)
n.2098dup
n.782dup
c.*647dup (n.*647dup)
c.4391dup (p.Tyr1464Ter)
n.9571dup
n.3036dup
c.5231dup (p.Tyr1744Ter)
c.5315dup (p.Tyr1772Ter)
c.5363dup (p.Tyr1788Ter)
c.4337dup (p.Tyr1446Ter)
c.3918dup
c.3479dup (p.Tyr1160Ter)
c.*1296dup (n.*1296dup)
c.4632dup
c.5405dup (p.Tyr1802Ter)
c.5402dup (p.Tyr1801Ter)
c.5357dup (p.Tyr1786Ter)
c.4481dup (p.Tyr1494Ter)
c.4250dup (p.Tyr1417Ter)
ClinVar dbSNP
10g.94298575C>ACA377642068PLCE1c.4440C>A (p.Tyr1480Ter)
c.*1907C>A (n.*1907C>A)
n.2099C>A
n.783C>A
c.*648C>A (n.*648C>A)
c.4392C>A (p.Tyr1464Ter)
n.9572C>A
n.3037C>A
c.5232C>A (p.Tyr1744Ter)
c.5316C>A (p.Tyr1772Ter)
c.5364C>A (p.Tyr1788Ter)
c.4338C>A (p.Tyr1446Ter)
c.3919C>A
c.3480C>A (p.Tyr1160Ter)
c.*1297C>A (n.*1297C>A)
c.4633C>A
c.5406C>A (p.Tyr1802Ter)
c.5403C>A (p.Tyr1801Ter)
c.5358C>A (p.Tyr1786Ter)
c.4482C>A (p.Tyr1494Ter)
c.4251C>A (p.Tyr1417Ter)
gnomAD v4
10g.94298575C=CA1928998444PLCE1c.4440C= (p.Tyr1480=)
c.*1907C= (n.*1907C=)
n.2099C=
n.783C=
c.*648C= (n.*648C=)
c.4392C= (p.Tyr1464=)
n.9572C=
n.3037C=
c.5232C= (p.Tyr1744=)
c.5316C= (p.Tyr1772=)
c.5364C= (p.Tyr1788=)
c.4338C= (p.Tyr1446=)
c.3919C=
c.3480C= (p.Tyr1160=)
c.*1297C= (n.*1297C=)
c.4633C=
c.5406C= (p.Tyr1802=)
c.5403C= (p.Tyr1801=)
c.5358C= (p.Tyr1786=)
c.4482C= (p.Tyr1494=)
c.4251C= (p.Tyr1417=)
10g.94298575C>GCA377642069PLCE1c.4440C>G (p.Tyr1480Ter)
c.*1907C>G (n.*1907C>G)
n.2099C>G
n.783C>G
c.*648C>G (n.*648C>G)
c.4392C>G (p.Tyr1464Ter)
n.9572C>G
n.3037C>G
c.5232C>G (p.Tyr1744Ter)
c.5316C>G (p.Tyr1772Ter)
c.5364C>G (p.Tyr1788Ter)
c.4338C>G (p.Tyr1446Ter)
c.3919C>G
c.3480C>G (p.Tyr1160Ter)
c.*1297C>G (n.*1297C>G)
c.4633C>G
c.5406C>G (p.Tyr1802Ter)
c.5403C>G (p.Tyr1801Ter)
c.5358C>G (p.Tyr1786Ter)
c.4482C>G (p.Tyr1494Ter)
c.4251C>G (p.Tyr1417Ter)
10g.94298575C>TCA5613346PLCE1c.4440C>T (p.Tyr1480=)
c.*1907C>T (n.*1907C>T)
n.2099C>T
n.783C>T
c.*648C>T (n.*648C>T)
c.4392C>T (p.Tyr1464=)
n.9572C>T
n.3037C>T
c.5232C>T (p.Tyr1744=)
c.5316C>T (p.Tyr1772=)
c.5364C>T (p.Tyr1788=)
c.4338C>T (p.Tyr1446=)
c.3919C>T
c.3480C>T (p.Tyr1160=)
c.*1297C>T (n.*1297C>T)
c.4633C>T
c.5406C>T (p.Tyr1802=)
c.5403C>T (p.Tyr1801=)
c.5358C>T (p.Tyr1786=)
c.4482C>T (p.Tyr1494=)
c.4251C>T (p.Tyr1417=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298576C>ACA377642070PLCE1c.4441C>A (p.Pro1481Thr)
c.*1908C>A (n.*1908C>A)
n.2100C>A
n.784C>A
c.*649C>A (n.*649C>A)
c.4393C>A (p.Pro1465Thr)
n.9573C>A
n.3038C>A
c.5233C>A (p.Pro1745Thr)
c.5317C>A (p.Pro1773Thr)
c.5365C>A (p.Pro1789Thr)
c.4339C>A (p.Pro1447Thr)
c.3920C>A
c.3481C>A (p.Pro1161Thr)
c.*1298C>A (n.*1298C>A)
c.4634C>A
c.5407C>A (p.Pro1803Thr)
c.5404C>A (p.Pro1802Thr)
c.5359C>A (p.Pro1787Thr)
c.4483C>A (p.Pro1495Thr)
c.4252C>A (p.Pro1418Thr)
10g.94298576C=CA1928998445PLCE1c.4441C= (p.Pro1481=)
c.*1908C= (n.*1908C=)
n.2100C=
n.784C=
c.*649C= (n.*649C=)
c.4393C= (p.Pro1465=)
n.9573C=
n.3038C=
c.5233C= (p.Pro1745=)
c.5317C= (p.Pro1773=)
c.5365C= (p.Pro1789=)
c.4339C= (p.Pro1447=)
c.3920C=
c.3481C= (p.Pro1161=)
c.*1298C= (n.*1298C=)
c.4634C=
c.5407C= (p.Pro1803=)
c.5404C= (p.Pro1802=)
c.5359C= (p.Pro1787=)
c.4483C= (p.Pro1495=)
c.4252C= (p.Pro1418=)
10g.94298576C>GCA377642071PLCE1c.4441C>G (p.Pro1481Ala)
c.*1908C>G (n.*1908C>G)
n.2100C>G
n.784C>G
c.*649C>G (n.*649C>G)
c.4393C>G (p.Pro1465Ala)
n.9573C>G
n.3038C>G
c.5233C>G (p.Pro1745Ala)
c.5317C>G (p.Pro1773Ala)
c.5365C>G (p.Pro1789Ala)
c.4339C>G (p.Pro1447Ala)
c.3920C>G
c.3481C>G (p.Pro1161Ala)
c.*1298C>G (n.*1298C>G)
c.4634C>G
c.5407C>G (p.Pro1803Ala)
c.5404C>G (p.Pro1802Ala)
c.5359C>G (p.Pro1787Ala)
c.4483C>G (p.Pro1495Ala)
c.4252C>G (p.Pro1418Ala)
gnomAD v4
10g.94298576C>TCA5613347PLCE1c.4441C>T (p.Pro1481Ser)
c.*1908C>T (n.*1908C>T)
n.2100C>T
n.784C>T
c.*649C>T (n.*649C>T)
c.4393C>T (p.Pro1465Ser)
n.9573C>T
n.3038C>T
c.5233C>T (p.Pro1745Ser)
c.5317C>T (p.Pro1773Ser)
c.5365C>T (p.Pro1789Ser)
c.4339C>T (p.Pro1447Ser)
c.3920C>T
c.3481C>T (p.Pro1161Ser)
c.*1298C>T (n.*1298C>T)
c.4634C>T
c.5407C>T (p.Pro1803Ser)
c.5404C>T (p.Pro1802Ser)
c.5359C>T (p.Pro1787Ser)
c.4483C>T (p.Pro1495Ser)
c.4252C>T (p.Pro1418Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298577C>ACA377642072PLCE1c.4442C>A (p.Pro1481His)
c.*1909C>A (n.*1909C>A)
n.2101C>A
n.785C>A
c.*650C>A (n.*650C>A)
c.4394C>A (p.Pro1465His)
n.9574C>A
n.3039C>A
c.5234C>A (p.Pro1745His)
c.5318C>A (p.Pro1773His)
c.5366C>A (p.Pro1789His)
c.4340C>A (p.Pro1447His)
c.3921C>A
c.3482C>A (p.Pro1161His)
c.*1299C>A (n.*1299C>A)
c.4635C>A
c.5408C>A (p.Pro1803His)
c.5405C>A (p.Pro1802His)
c.5360C>A (p.Pro1787His)
c.4484C>A (p.Pro1495His)
c.4253C>A (p.Pro1418His)
10g.94298577C>GCA377642073PLCE1c.4442C>G (p.Pro1481Arg)
c.*1909C>G (n.*1909C>G)
n.2101C>G
n.785C>G
c.*650C>G (n.*650C>G)
c.4394C>G (p.Pro1465Arg)
n.9574C>G
n.3039C>G
c.5234C>G (p.Pro1745Arg)
c.5318C>G (p.Pro1773Arg)
c.5366C>G (p.Pro1789Arg)
c.4340C>G (p.Pro1447Arg)
c.3921C>G
c.3482C>G (p.Pro1161Arg)
c.*1299C>G (n.*1299C>G)
c.4635C>G
c.5408C>G (p.Pro1803Arg)
c.5405C>G (p.Pro1802Arg)
c.5360C>G (p.Pro1787Arg)
c.4484C>G (p.Pro1495Arg)
c.4253C>G (p.Pro1418Arg)
10g.94298577C>TCA377642074PLCE1c.4442C>T (p.Pro1481Leu)
c.*1909C>T (n.*1909C>T)
n.2101C>T
n.785C>T
c.*650C>T (n.*650C>T)
c.4394C>T (p.Pro1465Leu)
n.9574C>T
n.3039C>T
c.5234C>T (p.Pro1745Leu)
c.5318C>T (p.Pro1773Leu)
c.5366C>T (p.Pro1789Leu)
c.4340C>T (p.Pro1447Leu)
c.3921C>T
c.3482C>T (p.Pro1161Leu)
c.*1299C>T (n.*1299C>T)
c.4635C>T
c.5408C>T (p.Pro1803Leu)
c.5405C>T (p.Pro1802Leu)
c.5360C>T (p.Pro1787Leu)
c.4484C>T (p.Pro1495Leu)
c.4253C>T (p.Pro1418Leu)
10g.94298578T>ACA470986586PLCE1c.4443T>A (p.Pro1481=)
c.*1910T>A (n.*1910T>A)
n.2102T>A
n.786T>A
c.*651T>A (n.*651T>A)
c.4395T>A (p.Pro1465=)
n.9575T>A
n.3040T>A
c.5235T>A (p.Pro1745=)
c.5319T>A (p.Pro1773=)
c.5367T>A (p.Pro1789=)
c.4341T>A (p.Pro1447=)
c.3922T>A
c.3483T>A (p.Pro1161=)
c.*1300T>A (n.*1300T>A)
c.4636T>A
c.5409T>A (p.Pro1803=)
c.5406T>A (p.Pro1802=)
c.5361T>A (p.Pro1787=)
c.4485T>A (p.Pro1495=)
c.4254T>A (p.Pro1418=)
10g.94298578T>CCA470986587PLCE1c.4443T>C (p.Pro1481=)
c.*1910T>C (n.*1910T>C)
n.2102T>C
n.786T>C
c.*651T>C (n.*651T>C)
c.4395T>C (p.Pro1465=)
n.9575T>C
n.3040T>C
c.5235T>C (p.Pro1745=)
c.5319T>C (p.Pro1773=)
c.5367T>C (p.Pro1789=)
c.4341T>C (p.Pro1447=)
c.3922T>C
c.3483T>C (p.Pro1161=)
c.*1300T>C (n.*1300T>C)
c.4636T>C
c.5409T>C (p.Pro1803=)
c.5406T>C (p.Pro1802=)
c.5361T>C (p.Pro1787=)
c.4485T>C (p.Pro1495=)
c.4254T>C (p.Pro1418=)
10g.94298578T>GCA470986588PLCE1c.4443T>G (p.Pro1481=)
c.*1910T>G (n.*1910T>G)
n.2102T>G
n.786T>G
c.*651T>G (n.*651T>G)
c.4395T>G (p.Pro1465=)
n.9575T>G
n.3040T>G
c.5235T>G (p.Pro1745=)
c.5319T>G (p.Pro1773=)
c.5367T>G (p.Pro1789=)
c.4341T>G (p.Pro1447=)
c.3922T>G
c.3483T>G (p.Pro1161=)
c.*1300T>G (n.*1300T>G)
c.4636T>G
c.5409T>G (p.Pro1803=)
c.5406T>G (p.Pro1802=)
c.5361T>G (p.Pro1787=)
c.4485T>G (p.Pro1495=)
c.4254T>G (p.Pro1418=)
10g.94298579G>ACA377642075PLCE1c.4444G>A (p.Ala1482Thr)
c.*1911G>A (n.*1911G>A)
n.2103G>A
n.787G>A
c.*652G>A (n.*652G>A)
c.4396G>A (p.Ala1466Thr)
n.9576G>A
n.3041G>A
c.5236G>A (p.Ala1746Thr)
c.5320G>A (p.Ala1774Thr)
c.5368G>A (p.Ala1790Thr)
c.4342G>A (p.Ala1448Thr)
c.3923G>A
c.3484G>A (p.Ala1162Thr)
c.*1301G>A (n.*1301G>A)
c.4637G>A
c.5410G>A (p.Ala1804Thr)
c.5407G>A (p.Ala1803Thr)
c.5362G>A (p.Ala1788Thr)
c.4486G>A (p.Ala1496Thr)
c.4255G>A (p.Ala1419Thr)
10g.94298579G>CCA377642076PLCE1c.4444G>C (p.Ala1482Pro)
c.*1911G>C (n.*1911G>C)
n.2103G>C
n.787G>C
c.*652G>C (n.*652G>C)
c.4396G>C (p.Ala1466Pro)
n.9576G>C
n.3041G>C
c.5236G>C (p.Ala1746Pro)
c.5320G>C (p.Ala1774Pro)
c.5368G>C (p.Ala1790Pro)
c.4342G>C (p.Ala1448Pro)
c.3923G>C
c.3484G>C (p.Ala1162Pro)
c.*1301G>C (n.*1301G>C)
c.4637G>C
c.5410G>C (p.Ala1804Pro)
c.5407G>C (p.Ala1803Pro)
c.5362G>C (p.Ala1788Pro)
c.4486G>C (p.Ala1496Pro)
c.4255G>C (p.Ala1419Pro)
10g.94298579G>TCA377642077PLCE1c.4444G>T (p.Ala1482Ser)
c.*1911G>T (n.*1911G>T)
n.2103G>T
n.787G>T
c.*652G>T (n.*652G>T)
c.4396G>T (p.Ala1466Ser)
n.9576G>T
n.3041G>T
c.5236G>T (p.Ala1746Ser)
c.5320G>T (p.Ala1774Ser)
c.5368G>T (p.Ala1790Ser)
c.4342G>T (p.Ala1448Ser)
c.3923G>T
c.3484G>T (p.Ala1162Ser)
c.*1301G>T (n.*1301G>T)
c.4637G>T
c.5410G>T (p.Ala1804Ser)
c.5407G>T (p.Ala1803Ser)
c.5362G>T (p.Ala1788Ser)
c.4486G>T (p.Ala1496Ser)
c.4255G>T (p.Ala1419Ser)
10g.94298580C>ACA377642078PLCE1c.4445C>A (p.Ala1482Asp)
c.*1912C>A (n.*1912C>A)
n.2104C>A
n.788C>A
c.*653C>A (n.*653C>A)
c.4397C>A (p.Ala1466Asp)
n.9577C>A
n.3042C>A
c.5237C>A (p.Ala1746Asp)
c.5321C>A (p.Ala1774Asp)
c.5369C>A (p.Ala1790Asp)
c.4343C>A (p.Ala1448Asp)
c.3924C>A
c.3485C>A (p.Ala1162Asp)
c.*1302C>A (n.*1302C>A)
c.4638C>A
c.5411C>A (p.Ala1804Asp)
c.5408C>A (p.Ala1803Asp)
c.5363C>A (p.Ala1788Asp)
c.4487C>A (p.Ala1496Asp)
c.4256C>A (p.Ala1419Asp)
10g.94298580C>GCA377642079PLCE1c.4445C>G (p.Ala1482Gly)
c.*1912C>G (n.*1912C>G)
n.2104C>G
n.788C>G
c.*653C>G (n.*653C>G)
c.4397C>G (p.Ala1466Gly)
n.9577C>G
n.3042C>G
c.5237C>G (p.Ala1746Gly)
c.5321C>G (p.Ala1774Gly)
c.5369C>G (p.Ala1790Gly)
c.4343C>G (p.Ala1448Gly)
c.3924C>G
c.3485C>G (p.Ala1162Gly)
c.*1302C>G (n.*1302C>G)
c.4638C>G
c.5411C>G (p.Ala1804Gly)
c.5408C>G (p.Ala1803Gly)
c.5363C>G (p.Ala1788Gly)
c.4487C>G (p.Ala1496Gly)
c.4256C>G (p.Ala1419Gly)
10g.94298580C>TCA377642080PLCE1c.4445C>T (p.Ala1482Val)
c.*1912C>T (n.*1912C>T)
n.2104C>T
n.788C>T
c.*653C>T (n.*653C>T)
c.4397C>T (p.Ala1466Val)
n.9577C>T
n.3042C>T
c.5237C>T (p.Ala1746Val)
c.5321C>T (p.Ala1774Val)
c.5369C>T (p.Ala1790Val)
c.4343C>T (p.Ala1448Val)
c.3924C>T
c.3485C>T (p.Ala1162Val)
c.*1302C>T (n.*1302C>T)
c.4638C>T
c.5411C>T (p.Ala1804Val)
c.5408C>T (p.Ala1803Val)
c.5363C>T (p.Ala1788Val)
c.4487C>T (p.Ala1496Val)
c.4256C>T (p.Ala1419Val)
10g.94298581T>ACA470986589PLCE1c.4446T>A (p.Ala1482=)
c.*1913T>A (n.*1913T>A)
n.2105T>A
n.789T>A
c.*654T>A (n.*654T>A)
c.4398T>A (p.Ala1466=)
n.9578T>A
n.3043T>A
c.5238T>A (p.Ala1746=)
c.5322T>A (p.Ala1774=)
c.5370T>A (p.Ala1790=)
c.4344T>A (p.Ala1448=)
c.3925T>A
c.3486T>A (p.Ala1162=)
c.*1303T>A (n.*1303T>A)
c.4639T>A
c.5412T>A (p.Ala1804=)
c.5409T>A (p.Ala1803=)
c.5364T>A (p.Ala1788=)
c.4488T>A (p.Ala1496=)
c.4257T>A (p.Ala1419=)
10g.94298581T>CCA470986591PLCE1c.4446T>C (p.Ala1482=)
c.*1913T>C (n.*1913T>C)
n.2105T>C
n.789T>C
c.*654T>C (n.*654T>C)
c.4398T>C (p.Ala1466=)
n.9578T>C
n.3043T>C
c.5238T>C (p.Ala1746=)
c.5322T>C (p.Ala1774=)
c.5370T>C (p.Ala1790=)
c.4344T>C (p.Ala1448=)
c.3925T>C
c.3486T>C (p.Ala1162=)
c.*1303T>C (n.*1303T>C)
c.4639T>C
c.5412T>C (p.Ala1804=)
c.5409T>C (p.Ala1803=)
c.5364T>C (p.Ala1788=)
c.4488T>C (p.Ala1496=)
c.4257T>C (p.Ala1419=)
gnomAD v4
10g.94298581T>GCA470986592PLCE1c.4446T>G (p.Ala1482=)
c.*1913T>G (n.*1913T>G)
n.2105T>G
n.789T>G
c.*654T>G (n.*654T>G)
c.4398T>G (p.Ala1466=)
n.9578T>G
n.3043T>G
c.5238T>G (p.Ala1746=)
c.5322T>G (p.Ala1774=)
c.5370T>G (p.Ala1790=)
c.4344T>G (p.Ala1448=)
c.3925T>G
c.3486T>G (p.Ala1162=)
c.*1303T>G (n.*1303T>G)
c.4639T>G
c.5412T>G (p.Ala1804=)
c.5409T>G (p.Ala1803=)
c.5364T>G (p.Ala1788=)
c.4488T>G (p.Ala1496=)
c.4257T>G (p.Ala1419=)
10g.94298582G>ACA377642083PLCE1c.4447G>A (p.Ala1483Thr)
c.*1914G>A (n.*1914G>A)
n.2106G>A
n.790G>A
c.*655G>A (n.*655G>A)
c.4399G>A (p.Ala1467Thr)
n.9579G>A
n.3044G>A
c.5239G>A (p.Ala1747Thr)
c.5323G>A (p.Ala1775Thr)
c.5371G>A (p.Ala1791Thr)
c.4345G>A (p.Ala1449Thr)
c.3926G>A
c.3487G>A (p.Ala1163Thr)
c.*1304G>A (n.*1304G>A)
c.4640G>A
c.5413G>A (p.Ala1805Thr)
c.5410G>A (p.Ala1804Thr)
c.5365G>A (p.Ala1789Thr)
c.4489G>A (p.Ala1497Thr)
c.4258G>A (p.Ala1420Thr)
10g.94298582G>CCA377642081PLCE1c.4447G>C (p.Ala1483Pro)
c.*1914G>C (n.*1914G>C)
n.2106G>C
n.790G>C
c.*655G>C (n.*655G>C)
c.4399G>C (p.Ala1467Pro)
n.9579G>C
n.3044G>C
c.5239G>C (p.Ala1747Pro)
c.5323G>C (p.Ala1775Pro)
c.5371G>C (p.Ala1791Pro)
c.4345G>C (p.Ala1449Pro)
c.3926G>C
c.3487G>C (p.Ala1163Pro)
c.*1304G>C (n.*1304G>C)
c.4640G>C
c.5413G>C (p.Ala1805Pro)
c.5410G>C (p.Ala1804Pro)
c.5365G>C (p.Ala1789Pro)
c.4489G>C (p.Ala1497Pro)
c.4258G>C (p.Ala1420Pro)
10g.94298582G>TCA377642082PLCE1c.4447G>T (p.Ala1483Ser)
c.*1914G>T (n.*1914G>T)
n.2106G>T
n.790G>T
c.*655G>T (n.*655G>T)
c.4399G>T (p.Ala1467Ser)
n.9579G>T
n.3044G>T
c.5239G>T (p.Ala1747Ser)
c.5323G>T (p.Ala1775Ser)
c.5371G>T (p.Ala1791Ser)
c.4345G>T (p.Ala1449Ser)
c.3926G>T
c.3487G>T (p.Ala1163Ser)
c.*1304G>T (n.*1304G>T)
c.4640G>T
c.5413G>T (p.Ala1805Ser)
c.5410G>T (p.Ala1804Ser)
c.5365G>T (p.Ala1789Ser)
c.4489G>T (p.Ala1497Ser)
c.4258G>T (p.Ala1420Ser)
10g.94298583C>ACA377642084PLCE1c.4448C>A (p.Ala1483Asp)
c.*1915C>A (n.*1915C>A)
n.2107C>A
n.791C>A
c.*656C>A (n.*656C>A)
c.4400C>A (p.Ala1467Asp)
n.9580C>A
n.3045C>A
c.5240C>A (p.Ala1747Asp)
c.5324C>A (p.Ala1775Asp)
c.5372C>A (p.Ala1791Asp)
c.4346C>A (p.Ala1449Asp)
c.3927C>A
c.3488C>A (p.Ala1163Asp)
c.*1305C>A (n.*1305C>A)
c.4641C>A
c.5414C>A (p.Ala1805Asp)
c.5411C>A (p.Ala1804Asp)
c.5366C>A (p.Ala1789Asp)
c.4490C>A (p.Ala1497Asp)
c.4259C>A (p.Ala1420Asp)
10g.94298583C>GCA377642085PLCE1c.4448C>G (p.Ala1483Gly)
c.*1915C>G (n.*1915C>G)
n.2107C>G
n.791C>G
c.*656C>G (n.*656C>G)
c.4400C>G (p.Ala1467Gly)
n.9580C>G
n.3045C>G
c.5240C>G (p.Ala1747Gly)
c.5324C>G (p.Ala1775Gly)
c.5372C>G (p.Ala1791Gly)
c.4346C>G (p.Ala1449Gly)
c.3927C>G
c.3488C>G (p.Ala1163Gly)
c.*1305C>G (n.*1305C>G)
c.4641C>G
c.5414C>G (p.Ala1805Gly)
c.5411C>G (p.Ala1804Gly)
c.5366C>G (p.Ala1789Gly)
c.4490C>G (p.Ala1497Gly)
c.4259C>G (p.Ala1420Gly)
10g.94298583C>TCA377642086PLCE1c.4448C>T (p.Ala1483Val)
c.*1915C>T (n.*1915C>T)
n.2107C>T
n.791C>T
c.*656C>T (n.*656C>T)
c.4400C>T (p.Ala1467Val)
n.9580C>T
n.3045C>T
c.5240C>T (p.Ala1747Val)
c.5324C>T (p.Ala1775Val)
c.5372C>T (p.Ala1791Val)
c.4346C>T (p.Ala1449Val)
c.3927C>T
c.3488C>T (p.Ala1163Val)
c.*1305C>T (n.*1305C>T)
c.4641C>T
c.5414C>T (p.Ala1805Val)
c.5411C>T (p.Ala1804Val)
c.5366C>T (p.Ala1789Val)
c.4490C>T (p.Ala1497Val)
c.4259C>T (p.Ala1420Val)
10g.94298584C>ACA470986594PLCE1c.4449C>A (p.Ala1483=)
c.*1916C>A (n.*1916C>A)
n.2108C>A
n.792C>A
c.*657C>A (n.*657C>A)
c.4401C>A (p.Ala1467=)
n.9581C>A
n.3046C>A
c.5241C>A (p.Ala1747=)
c.5325C>A (p.Ala1775=)
c.5373C>A (p.Ala1791=)
c.4347C>A (p.Ala1449=)
c.3928C>A
c.3489C>A (p.Ala1163=)
c.*1306C>A (n.*1306C>A)
c.4642C>A
c.5415C>A (p.Ala1805=)
c.5412C>A (p.Ala1804=)
c.5367C>A (p.Ala1789=)
c.4491C>A (p.Ala1497=)
c.4260C>A (p.Ala1420=)
10g.94298584C>GCA470986595PLCE1c.4449C>G (p.Ala1483=)
c.*1916C>G (n.*1916C>G)
n.2108C>G
n.792C>G
c.*657C>G (n.*657C>G)
c.4401C>G (p.Ala1467=)
n.9581C>G
n.3046C>G
c.5241C>G (p.Ala1747=)
c.5325C>G (p.Ala1775=)
c.5373C>G (p.Ala1791=)
c.4347C>G (p.Ala1449=)
c.3928C>G
c.3489C>G (p.Ala1163=)
c.*1306C>G (n.*1306C>G)
c.4642C>G
c.5415C>G (p.Ala1805=)
c.5412C>G (p.Ala1804=)
c.5367C>G (p.Ala1789=)
c.4491C>G (p.Ala1497=)
c.4260C>G (p.Ala1420=)
10g.94298584C>TCA470986597PLCE1c.4449C>T (p.Ala1483=)
c.*1916C>T (n.*1916C>T)
n.2108C>T
n.792C>T
c.*657C>T (n.*657C>T)
c.4401C>T (p.Ala1467=)
n.9581C>T
n.3046C>T
c.5241C>T (p.Ala1747=)
c.5325C>T (p.Ala1775=)
c.5373C>T (p.Ala1791=)
c.4347C>T (p.Ala1449=)
c.3928C>T
c.3489C>T (p.Ala1163=)
c.*1306C>T (n.*1306C>T)
c.4642C>T
c.5415C>T (p.Ala1805=)
c.5412C>T (p.Ala1804=)
c.5367C>T (p.Ala1789=)
c.4491C>T (p.Ala1497=)
c.4260C>T (p.Ala1420=)
10g.94298585A>CCA377642087PLCE1c.4450A>C (p.Thr1484Pro)
c.*1917A>C (n.*1917A>C)
n.2109A>C
n.793A>C
c.*658A>C (n.*658A>C)
c.4402A>C (p.Thr1468Pro)
n.9582A>C
n.3047A>C
c.5242A>C (p.Thr1748Pro)
c.5326A>C (p.Thr1776Pro)
c.5374A>C (p.Thr1792Pro)
c.4348A>C (p.Thr1450Pro)
c.3929A>C
c.3490A>C (p.Thr1164Pro)
c.*1307A>C (n.*1307A>C)
c.4643A>C
c.5416A>C (p.Thr1806Pro)
c.5413A>C (p.Thr1805Pro)
c.5368A>C (p.Thr1790Pro)
c.4492A>C (p.Thr1498Pro)
c.4261A>C (p.Thr1421Pro)
10g.94298585A>GCA377642088PLCE1c.4450A>G (p.Thr1484Ala)
c.*1917A>G (n.*1917A>G)
n.2109A>G
n.793A>G
c.*658A>G (n.*658A>G)
c.4402A>G (p.Thr1468Ala)
n.9582A>G
n.3047A>G
c.5242A>G (p.Thr1748Ala)
c.5326A>G (p.Thr1776Ala)
c.5374A>G (p.Thr1792Ala)
c.4348A>G (p.Thr1450Ala)
c.3929A>G
c.3490A>G (p.Thr1164Ala)
c.*1307A>G (n.*1307A>G)
c.4643A>G
c.5416A>G (p.Thr1806Ala)
c.5413A>G (p.Thr1805Ala)
c.5368A>G (p.Thr1790Ala)
c.4492A>G (p.Thr1498Ala)
c.4261A>G (p.Thr1421Ala)
10g.94298585A>TCA377642089PLCE1c.4450A>T (p.Thr1484Ser)
c.*1917A>T (n.*1917A>T)
n.2109A>T
n.793A>T
c.*658A>T (n.*658A>T)
c.4402A>T (p.Thr1468Ser)
n.9582A>T
n.3047A>T
c.5242A>T (p.Thr1748Ser)
c.5326A>T (p.Thr1776Ser)
c.5374A>T (p.Thr1792Ser)
c.4348A>T (p.Thr1450Ser)
c.3929A>T
c.3490A>T (p.Thr1164Ser)
c.*1307A>T (n.*1307A>T)
c.4643A>T
c.5416A>T (p.Thr1806Ser)
c.5413A>T (p.Thr1805Ser)
c.5368A>T (p.Thr1790Ser)
c.4492A>T (p.Thr1498Ser)
c.4261A>T (p.Thr1421Ser)
10g.94298586C>ACA377642090PLCE1c.4451C>A (p.Thr1484Asn)
c.*1918C>A (n.*1918C>A)
n.2110C>A
n.794C>A
c.*659C>A (n.*659C>A)
c.4403C>A (p.Thr1468Asn)
n.9583C>A
n.3048C>A
c.5243C>A (p.Thr1748Asn)
c.5327C>A (p.Thr1776Asn)
c.5375C>A (p.Thr1792Asn)
c.4349C>A (p.Thr1450Asn)
c.3930C>A
c.3491C>A (p.Thr1164Asn)
c.*1308C>A (n.*1308C>A)
c.4644C>A
c.5417C>A (p.Thr1806Asn)
c.5414C>A (p.Thr1805Asn)
c.5369C>A (p.Thr1790Asn)
c.4493C>A (p.Thr1498Asn)
c.4262C>A (p.Thr1421Asn)
10g.94298586C>GCA377642091PLCE1c.4451C>G (p.Thr1484Ser)
c.*1918C>G (n.*1918C>G)
n.2110C>G
n.794C>G
c.*659C>G (n.*659C>G)
c.4403C>G (p.Thr1468Ser)
n.9583C>G
n.3048C>G
c.5243C>G (p.Thr1748Ser)
c.5327C>G (p.Thr1776Ser)
c.5375C>G (p.Thr1792Ser)
c.4349C>G (p.Thr1450Ser)
c.3930C>G
c.3491C>G (p.Thr1164Ser)
c.*1308C>G (n.*1308C>G)
c.4644C>G
c.5417C>G (p.Thr1806Ser)
c.5414C>G (p.Thr1805Ser)
c.5369C>G (p.Thr1790Ser)
c.4493C>G (p.Thr1498Ser)
c.4262C>G (p.Thr1421Ser)
10g.94298586C>TCA377642092PLCE1c.4451C>T (p.Thr1484Ile)
c.*1918C>T (n.*1918C>T)
n.2110C>T
n.794C>T
c.*659C>T (n.*659C>T)
c.4403C>T (p.Thr1468Ile)
n.9583C>T
n.3048C>T
c.5243C>T (p.Thr1748Ile)
c.5327C>T (p.Thr1776Ile)
c.5375C>T (p.Thr1792Ile)
c.4349C>T (p.Thr1450Ile)
c.3930C>T
c.3491C>T (p.Thr1164Ile)
c.*1308C>T (n.*1308C>T)
c.4644C>T
c.5417C>T (p.Thr1806Ile)
c.5414C>T (p.Thr1805Ile)
c.5369C>T (p.Thr1790Ile)
c.4493C>T (p.Thr1498Ile)
c.4262C>T (p.Thr1421Ile)
10g.94298587C>ACA470986599PLCE1c.4452C>A (p.Thr1484=)
c.*1919C>A (n.*1919C>A)
n.2111C>A
n.795C>A
c.*660C>A (n.*660C>A)
c.4404C>A (p.Thr1468=)
n.9584C>A
n.3049C>A
c.5244C>A (p.Thr1748=)
c.5328C>A (p.Thr1776=)
c.5376C>A (p.Thr1792=)
c.4350C>A (p.Thr1450=)
c.3931C>A
c.3492C>A (p.Thr1164=)
c.*1309C>A (n.*1309C>A)
c.4645C>A
c.5418C>A (p.Thr1806=)
c.5415C>A (p.Thr1805=)
c.5370C>A (p.Thr1790=)
c.4494C>A (p.Thr1498=)
c.4263C>A (p.Thr1421=)
10g.94298587C=CA1928998446PLCE1c.4452C= (p.Thr1484=)
c.*1919C= (n.*1919C=)
n.2111C=
n.795C=
c.*660C= (n.*660C=)
c.4404C= (p.Thr1468=)
n.9584C=
n.3049C=
c.5244C= (p.Thr1748=)
c.5328C= (p.Thr1776=)
c.5376C= (p.Thr1792=)
c.4350C= (p.Thr1450=)
c.3931C=
c.3492C= (p.Thr1164=)
c.*1309C= (n.*1309C=)
c.4645C=
c.5418C= (p.Thr1806=)
c.5415C= (p.Thr1805=)
c.5370C= (p.Thr1790=)
c.4494C= (p.Thr1498=)
c.4263C= (p.Thr1421=)
10g.94298587C>GCA470986600PLCE1c.4452C>G (p.Thr1484=)
c.*1919C>G (n.*1919C>G)
n.2111C>G
n.795C>G
c.*660C>G (n.*660C>G)
c.4404C>G (p.Thr1468=)
n.9584C>G
n.3049C>G
c.5244C>G (p.Thr1748=)
c.5328C>G (p.Thr1776=)
c.5376C>G (p.Thr1792=)
c.4350C>G (p.Thr1450=)
c.3931C>G
c.3492C>G (p.Thr1164=)
c.*1309C>G (n.*1309C>G)
c.4645C>G
c.5418C>G (p.Thr1806=)
c.5415C>G (p.Thr1805=)
c.5370C>G (p.Thr1790=)
c.4494C>G (p.Thr1498=)
c.4263C>G (p.Thr1421=)
10g.94298587C>TCA5613348PLCE1c.4452C>T (p.Thr1484=)
c.*1919C>T (n.*1919C>T)
n.2111C>T
n.795C>T
c.*660C>T (n.*660C>T)
c.4404C>T (p.Thr1468=)
n.9584C>T
n.3049C>T
c.5244C>T (p.Thr1748=)
c.5328C>T (p.Thr1776=)
c.5376C>T (p.Thr1792=)
c.4350C>T (p.Thr1450=)
c.3931C>T
c.3492C>T (p.Thr1164=)
c.*1309C>T (n.*1309C>T)
c.4645C>T
c.5418C>T (p.Thr1806=)
c.5415C>T (p.Thr1805=)
c.5370C>T (p.Thr1790=)
c.4494C>T (p.Thr1498=)
c.4263C>T (p.Thr1421=)
dbSNP ExAC gnomAD v2
10g.94298588C>ACA377642095PLCE1c.4453C>A (p.Arg1485Ser)
c.*1920C>A (n.*1920C>A)
n.2112C>A
n.796C>A
c.*661C>A (n.*661C>A)
c.4405C>A (p.Arg1469Ser)
n.9585C>A
n.3050C>A
c.5245C>A (p.Arg1749Ser)
c.5329C>A (p.Arg1777Ser)
c.5377C>A (p.Arg1793Ser)
c.4351C>A (p.Arg1451Ser)
c.3932C>A
c.3493C>A (p.Arg1165Ser)
c.*1310C>A (n.*1310C>A)
c.4646C>A
c.5419C>A (p.Arg1807Ser)
c.5416C>A (p.Arg1806Ser)
c.5371C>A (p.Arg1791Ser)
c.4495C>A (p.Arg1499Ser)
c.4264C>A (p.Arg1422Ser)
10g.94298588C=CA1928998447PLCE1c.4453C= (p.Arg1485=)
c.*1920C= (n.*1920C=)
n.2112C=
n.796C=
c.*661C= (n.*661C=)
c.4405C= (p.Arg1469=)
n.9585C=
n.3050C=
c.5245C= (p.Arg1749=)
c.5329C= (p.Arg1777=)
c.5377C= (p.Arg1793=)
c.4351C= (p.Arg1451=)
c.3932C=
c.3493C= (p.Arg1165=)
c.*1310C= (n.*1310C=)
c.4646C=
c.5419C= (p.Arg1807=)
c.5416C= (p.Arg1806=)
c.5371C= (p.Arg1791=)
c.4495C= (p.Arg1499=)
c.4264C= (p.Arg1422=)
10g.94298588C>GCA377642094PLCE1c.4453C>G (p.Arg1485Gly)
c.*1920C>G (n.*1920C>G)
n.2112C>G
n.796C>G
c.*661C>G (n.*661C>G)
c.4405C>G (p.Arg1469Gly)
n.9585C>G
n.3050C>G
c.5245C>G (p.Arg1749Gly)
c.5329C>G (p.Arg1777Gly)
c.5377C>G (p.Arg1793Gly)
c.4351C>G (p.Arg1451Gly)
c.3932C>G
c.3493C>G (p.Arg1165Gly)
c.*1310C>G (n.*1310C>G)
c.4646C>G
c.5419C>G (p.Arg1807Gly)
c.5416C>G (p.Arg1806Gly)
c.5371C>G (p.Arg1791Gly)
c.4495C>G (p.Arg1499Gly)
c.4264C>G (p.Arg1422Gly)
gnomAD v4
10g.94298588C>TCA377642093PLCE1c.4453C>T (p.Arg1485Cys)
c.*1920C>T (n.*1920C>T)
n.2112C>T
n.796C>T
c.*661C>T (n.*661C>T)
c.4405C>T (p.Arg1469Cys)
n.9585C>T
n.3050C>T
c.5245C>T (p.Arg1749Cys)
c.5329C>T (p.Arg1777Cys)
c.5377C>T (p.Arg1793Cys)
c.4351C>T (p.Arg1451Cys)
c.3932C>T
c.3493C>T (p.Arg1165Cys)
c.*1310C>T (n.*1310C>T)
c.4646C>T
c.5419C>T (p.Arg1807Cys)
c.5416C>T (p.Arg1806Cys)
c.5371C>T (p.Arg1791Cys)
c.4495C>T (p.Arg1499Cys)
c.4264C>T (p.Arg1422Cys)
dbSNP gnomAD v2 gnomAD v4
10g.94298589G>ACA377642096PLCE1c.4454G>A (p.Arg1485His)
c.*1921G>A (n.*1921G>A)
n.2113G>A
n.797G>A
c.*662G>A (n.*662G>A)
c.4406G>A (p.Arg1469His)
n.9586G>A
n.3051G>A
c.5246G>A (p.Arg1749His)
c.5330G>A (p.Arg1777His)
c.5378G>A (p.Arg1793His)
c.4352G>A (p.Arg1451His)
c.3933G>A
c.3494G>A (p.Arg1165His)
c.*1311G>A (n.*1311G>A)
c.4647G>A
c.5420G>A (p.Arg1807His)
c.5417G>A (p.Arg1806His)
c.5372G>A (p.Arg1791His)
c.4496G>A (p.Arg1499His)
c.4265G>A (p.Arg1422His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.94298589G>CCA377642097PLCE1c.4454G>C (p.Arg1485Pro)
c.*1921G>C (n.*1921G>C)
n.2113G>C
n.797G>C
c.*662G>C (n.*662G>C)
c.4406G>C (p.Arg1469Pro)
n.9586G>C
n.3051G>C
c.5246G>C (p.Arg1749Pro)
c.5330G>C (p.Arg1777Pro)
c.5378G>C (p.Arg1793Pro)
c.4352G>C (p.Arg1451Pro)
c.3933G>C
c.3494G>C (p.Arg1165Pro)
c.*1311G>C (n.*1311G>C)
c.4647G>C
c.5420G>C (p.Arg1807Pro)
c.5417G>C (p.Arg1806Pro)
c.5372G>C (p.Arg1791Pro)
c.4496G>C (p.Arg1499Pro)
c.4265G>C (p.Arg1422Pro)
10g.94298589G=CA1928998448PLCE1c.4454G= (p.Arg1485=)
c.*1921G= (n.*1921G=)
n.2113G=
n.797G=
c.*662G= (n.*662G=)
c.4406G= (p.Arg1469=)
n.9586G=
n.3051G=
c.5246G= (p.Arg1749=)
c.5330G= (p.Arg1777=)
c.5378G= (p.Arg1793=)
c.4352G= (p.Arg1451=)
c.3933G=
c.3494G= (p.Arg1165=)
c.*1311G= (n.*1311G=)
c.4647G=
c.5420G= (p.Arg1807=)
c.5417G= (p.Arg1806=)
c.5372G= (p.Arg1791=)
c.4496G= (p.Arg1499=)
c.4265G= (p.Arg1422=)
10g.94298589G>TCA377642098PLCE1c.4454G>T (p.Arg1485Leu)
c.*1921G>T (n.*1921G>T)
n.2113G>T
n.797G>T
c.*662G>T (n.*662G>T)
c.4406G>T (p.Arg1469Leu)
n.9586G>T
n.3051G>T
c.5246G>T (p.Arg1749Leu)
c.5330G>T (p.Arg1777Leu)
c.5378G>T (p.Arg1793Leu)
c.4352G>T (p.Arg1451Leu)
c.3933G>T
c.3494G>T (p.Arg1165Leu)
c.*1311G>T (n.*1311G>T)
c.4647G>T
c.5420G>T (p.Arg1807Leu)
c.5417G>T (p.Arg1806Leu)
c.5372G>T (p.Arg1791Leu)
c.4496G>T (p.Arg1499Leu)
c.4265G>T (p.Arg1422Leu)
10g.94298590C>ACA470986604PLCE1c.4455C>A (p.Arg1485=)
c.*1922C>A (n.*1922C>A)
n.2114C>A
n.798C>A
c.*663C>A (n.*663C>A)
c.4407C>A (p.Arg1469=)
n.9587C>A
n.3052C>A
c.5247C>A (p.Arg1749=)
c.5331C>A (p.Arg1777=)
c.5379C>A (p.Arg1793=)
c.4353C>A (p.Arg1451=)
c.3934C>A
c.3495C>A (p.Arg1165=)
c.*1312C>A (n.*1312C>A)
c.4648C>A
c.5421C>A (p.Arg1807=)
c.5418C>A (p.Arg1806=)
c.5373C>A (p.Arg1791=)
c.4497C>A (p.Arg1499=)
c.4266C>A (p.Arg1422=)
10g.94298590C>GCA470986603PLCE1c.4455C>G (p.Arg1485=)
c.*1922C>G (n.*1922C>G)
n.2114C>G
n.798C>G
c.*663C>G (n.*663C>G)
c.4407C>G (p.Arg1469=)
n.9587C>G
n.3052C>G
c.5247C>G (p.Arg1749=)
c.5331C>G (p.Arg1777=)
c.5379C>G (p.Arg1793=)
c.4353C>G (p.Arg1451=)
c.3934C>G
c.3495C>G (p.Arg1165=)
c.*1312C>G (n.*1312C>G)
c.4648C>G
c.5421C>G (p.Arg1807=)
c.5418C>G (p.Arg1806=)
c.5373C>G (p.Arg1791=)
c.4497C>G (p.Arg1499=)
c.4266C>G (p.Arg1422=)
10g.94298590C>TCA470986602PLCE1c.4455C>T (p.Arg1485=)
c.*1922C>T (n.*1922C>T)
n.2114C>T
n.798C>T
c.*663C>T (n.*663C>T)
c.4407C>T (p.Arg1469=)
n.9587C>T
n.3052C>T
c.5247C>T (p.Arg1749=)
c.5331C>T (p.Arg1777=)
c.5379C>T (p.Arg1793=)
c.4353C>T (p.Arg1451=)
c.3934C>T
c.3495C>T (p.Arg1165=)
c.*1312C>T (n.*1312C>T)
c.4648C>T
c.5421C>T (p.Arg1807=)
c.5418C>T (p.Arg1806=)
c.5373C>T (p.Arg1791=)
c.4497C>T (p.Arg1499=)
c.4266C>T (p.Arg1422=)
10g.94298591A>CCA377642099PLCE1c.4456A>C (p.Ile1486Leu)
c.*1923A>C (n.*1923A>C)
n.2115A>C
n.799A>C
c.*664A>C (n.*664A>C)
c.4408A>C (p.Ile1470Leu)
n.9588A>C
n.3053A>C
c.5248A>C (p.Ile1750Leu)
c.5332A>C (p.Ile1778Leu)
c.5380A>C (p.Ile1794Leu)
c.4354A>C (p.Ile1452Leu)
c.3935A>C
c.3496A>C (p.Ile1166Leu)
c.*1313A>C (n.*1313A>C)
c.4649A>C
c.5422A>C (p.Ile1808Leu)
c.5419A>C (p.Ile1807Leu)
c.5374A>C (p.Ile1792Leu)
c.4498A>C (p.Ile1500Leu)
c.4267A>C (p.Ile1423Leu)
10g.94298591A>GCA377642100PLCE1c.4456A>G (p.Ile1486Val)
c.*1923A>G (n.*1923A>G)
n.2115A>G
n.799A>G
c.*664A>G (n.*664A>G)
c.4408A>G (p.Ile1470Val)
n.9588A>G
n.3053A>G
c.5248A>G (p.Ile1750Val)
c.5332A>G (p.Ile1778Val)
c.5380A>G (p.Ile1794Val)
c.4354A>G (p.Ile1452Val)
c.3935A>G
c.3496A>G (p.Ile1166Val)
c.*1313A>G (n.*1313A>G)
c.4649A>G
c.5422A>G (p.Ile1808Val)
c.5419A>G (p.Ile1807Val)
c.5374A>G (p.Ile1792Val)
c.4498A>G (p.Ile1500Val)
c.4267A>G (p.Ile1423Val)
gnomAD v4
10g.94298591A>TCA377642101PLCE1c.4456A>T (p.Ile1486Phe)
c.*1923A>T (n.*1923A>T)
n.2115A>T
n.799A>T
c.*664A>T (n.*664A>T)
c.4408A>T (p.Ile1470Phe)
n.9588A>T
n.3053A>T
c.5248A>T (p.Ile1750Phe)
c.5332A>T (p.Ile1778Phe)
c.5380A>T (p.Ile1794Phe)
c.4354A>T (p.Ile1452Phe)
c.3935A>T
c.3496A>T (p.Ile1166Phe)
c.*1313A>T (n.*1313A>T)
c.4649A>T
c.5422A>T (p.Ile1808Phe)
c.5419A>T (p.Ile1807Phe)
c.5374A>T (p.Ile1792Phe)
c.4498A>T (p.Ile1500Phe)
c.4267A>T (p.Ile1423Phe)
10g.94298592T>ACA377642102PLCE1c.4457T>A (p.Ile1486Asn)
c.*1924T>A (n.*1924T>A)
n.2116T>A
n.800T>A
c.*665T>A (n.*665T>A)
c.4409T>A (p.Ile1470Asn)
n.9589T>A
n.3054T>A
c.5249T>A (p.Ile1750Asn)
c.5333T>A (p.Ile1778Asn)
c.5381T>A (p.Ile1794Asn)
c.4355T>A (p.Ile1452Asn)
c.3936T>A
c.3497T>A (p.Ile1166Asn)
c.*1314T>A (n.*1314T>A)
c.4650T>A
c.5423T>A (p.Ile1808Asn)
c.5420T>A (p.Ile1807Asn)
c.5375T>A (p.Ile1792Asn)
c.4499T>A (p.Ile1500Asn)
c.4268T>A (p.Ile1423Asn)
10g.94298592T>CCA377642103PLCE1c.4457T>C (p.Ile1486Thr)
c.*1924T>C (n.*1924T>C)
n.2116T>C
n.800T>C
c.*665T>C (n.*665T>C)
c.4409T>C (p.Ile1470Thr)
n.9589T>C
n.3054T>C
c.5249T>C (p.Ile1750Thr)
c.5333T>C (p.Ile1778Thr)
c.5381T>C (p.Ile1794Thr)
c.4355T>C (p.Ile1452Thr)
c.3936T>C
c.3497T>C (p.Ile1166Thr)
c.*1314T>C (n.*1314T>C)
c.4650T>C
c.5423T>C (p.Ile1808Thr)
c.5420T>C (p.Ile1807Thr)
c.5375T>C (p.Ile1792Thr)
c.4499T>C (p.Ile1500Thr)
c.4268T>C (p.Ile1423Thr)
10g.94298592T>GCA377642104PLCE1c.4457T>G (p.Ile1486Ser)
c.*1924T>G (n.*1924T>G)
n.2116T>G
n.800T>G
c.*665T>G (n.*665T>G)
c.4409T>G (p.Ile1470Ser)
n.9589T>G
n.3054T>G
c.5249T>G (p.Ile1750Ser)
c.5333T>G (p.Ile1778Ser)
c.5381T>G (p.Ile1794Ser)
c.4355T>G (p.Ile1452Ser)
c.3936T>G
c.3497T>G (p.Ile1166Ser)
c.*1314T>G (n.*1314T>G)
c.4650T>G
c.5423T>G (p.Ile1808Ser)
c.5420T>G (p.Ile1807Ser)
c.5375T>G (p.Ile1792Ser)
c.4499T>G (p.Ile1500Ser)
c.4268T>G (p.Ile1423Ser)
10g.94298593C>ACA211599807PLCE1c.4458C>A (p.Ile1486=)
c.*1925C>A (n.*1925C>A)
n.2117C>A
n.801C>A
c.*666C>A (n.*666C>A)
c.4410C>A (p.Ile1470=)
n.9590C>A
n.3055C>A
c.5250C>A (p.Ile1750=)
c.5334C>A (p.Ile1778=)
c.5382C>A (p.Ile1794=)
c.4356C>A (p.Ile1452=)
c.3937C>A
c.3498C>A (p.Ile1166=)
c.*1315C>A (n.*1315C>A)
c.4651C>A
c.5424C>A (p.Ile1808=)
c.5421C>A (p.Ile1807=)
c.5376C>A (p.Ile1792=)
c.4500C>A (p.Ile1500=)
c.4269C>A (p.Ile1423=)
dbSNP gnomAD v2 gnomAD v4
10g.94298593C=CA1928998449PLCE1c.4458C= (p.Ile1486=)
c.*1925C= (n.*1925C=)
n.2117C=
n.801C=
c.*666C= (n.*666C=)
c.4410C= (p.Ile1470=)
n.9590C=
n.3055C=
c.5250C= (p.Ile1750=)
c.5334C= (p.Ile1778=)
c.5382C= (p.Ile1794=)
c.4356C= (p.Ile1452=)
c.3937C=
c.3498C= (p.Ile1166=)
c.*1315C= (n.*1315C=)
c.4651C=
c.5424C= (p.Ile1808=)
c.5421C= (p.Ile1807=)
c.5376C= (p.Ile1792=)
c.4500C= (p.Ile1500=)
c.4269C= (p.Ile1423=)
10g.94298593C>GCA377642105PLCE1c.4458C>G (p.Ile1486Met)
c.*1925C>G (n.*1925C>G)
n.2117C>G
n.801C>G
c.*666C>G (n.*666C>G)
c.4410C>G (p.Ile1470Met)
n.9590C>G
n.3055C>G
c.5250C>G (p.Ile1750Met)
c.5334C>G (p.Ile1778Met)
c.5382C>G (p.Ile1794Met)
c.4356C>G (p.Ile1452Met)
c.3937C>G
c.3498C>G (p.Ile1166Met)
c.*1315C>G (n.*1315C>G)
c.4651C>G
c.5424C>G (p.Ile1808Met)
c.5421C>G (p.Ile1807Met)
c.5376C>G (p.Ile1792Met)
c.4500C>G (p.Ile1500Met)
c.4269C>G (p.Ile1423Met)
10g.94298593C>TCA5613349PLCE1c.4458C>T (p.Ile1486=)
c.*1925C>T (n.*1925C>T)
n.2117C>T
n.801C>T
c.*666C>T (n.*666C>T)
c.4410C>T (p.Ile1470=)
n.9590C>T
n.3055C>T
c.5250C>T (p.Ile1750=)
c.5334C>T (p.Ile1778=)
c.5382C>T (p.Ile1794=)
c.4356C>T (p.Ile1452=)
c.3937C>T
c.3498C>T (p.Ile1166=)
c.*1315C>T (n.*1315C>T)
c.4651C>T
c.5424C>T (p.Ile1808=)
c.5421C>T (p.Ile1807=)
c.5376C>T (p.Ile1792=)
c.4500C>T (p.Ile1500=)
c.4269C>T (p.Ile1423=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298594G>ACA377642108PLCE1c.4459G>A (p.Asp1487Asn)
c.*1926G>A (n.*1926G>A)
n.2118G>A
n.802G>A
c.*667G>A (n.*667G>A)
c.4411G>A (p.Asp1471Asn)
n.9591G>A
n.3056G>A
c.5251G>A (p.Asp1751Asn)
c.5335G>A (p.Asp1779Asn)
c.5383G>A (p.Asp1795Asn)
c.4357G>A (p.Asp1453Asn)
c.3938G>A
c.3499G>A (p.Asp1167Asn)
c.*1316G>A (n.*1316G>A)
c.4652G>A
c.5425G>A (p.Asp1809Asn)
c.5422G>A (p.Asp1808Asn)
c.5377G>A (p.Asp1793Asn)
c.4501G>A (p.Asp1501Asn)
c.4270G>A (p.Asp1424Asn)
dbSNP
10g.94298594G>CCA377642106PLCE1c.4459G>C (p.Asp1487His)
c.*1926G>C (n.*1926G>C)
n.2118G>C
n.802G>C
c.*667G>C (n.*667G>C)
c.4411G>C (p.Asp1471His)
n.9591G>C
n.3056G>C
c.5251G>C (p.Asp1751His)
c.5335G>C (p.Asp1779His)
c.5383G>C (p.Asp1795His)
c.4357G>C (p.Asp1453His)
c.3938G>C
c.3499G>C (p.Asp1167His)
c.*1316G>C (n.*1316G>C)
c.4652G>C
c.5425G>C (p.Asp1809His)
c.5422G>C (p.Asp1808His)
c.5377G>C (p.Asp1793His)
c.4501G>C (p.Asp1501His)
c.4270G>C (p.Asp1424His)
ClinVar
10g.94298594G=CA1928998450PLCE1c.4459G= (p.Asp1487=)
c.*1926G= (n.*1926G=)
n.2118G=
n.802G=
c.*667G= (n.*667G=)
c.4411G= (p.Asp1471=)
n.9591G=
n.3056G=
c.5251G= (p.Asp1751=)
c.5335G= (p.Asp1779=)
c.5383G= (p.Asp1795=)
c.4357G= (p.Asp1453=)
c.3938G=
c.3499G= (p.Asp1167=)
c.*1316G= (n.*1316G=)
c.4652G=
c.5425G= (p.Asp1809=)
c.5422G= (p.Asp1808=)
c.5377G= (p.Asp1793=)
c.4501G= (p.Asp1501=)
c.4270G= (p.Asp1424=)
10g.94298594G>TCA377642107PLCE1c.4459G>T (p.Asp1487Tyr)
c.*1926G>T (n.*1926G>T)
n.2118G>T
n.802G>T
c.*667G>T (n.*667G>T)
c.4411G>T (p.Asp1471Tyr)
n.9591G>T
n.3056G>T
c.5251G>T (p.Asp1751Tyr)
c.5335G>T (p.Asp1779Tyr)
c.5383G>T (p.Asp1795Tyr)
c.4357G>T (p.Asp1453Tyr)
c.3938G>T
c.3499G>T (p.Asp1167Tyr)
c.*1316G>T (n.*1316G>T)
c.4652G>T
c.5425G>T (p.Asp1809Tyr)
c.5422G>T (p.Asp1808Tyr)
c.5377G>T (p.Asp1793Tyr)
c.4501G>T (p.Asp1501Tyr)
c.4270G>T (p.Asp1424Tyr)
10g.94298595A>CCA377642109PLCE1c.4460A>C (p.Asp1487Ala)
c.*1927A>C (n.*1927A>C)
n.2119A>C
n.803A>C
c.*668A>C (n.*668A>C)
c.4412A>C (p.Asp1471Ala)
n.9592A>C
n.3057A>C
c.5252A>C (p.Asp1751Ala)
c.5336A>C (p.Asp1779Ala)
c.5384A>C (p.Asp1795Ala)
c.4358A>C (p.Asp1453Ala)
c.3939A>C
c.3500A>C (p.Asp1167Ala)
c.*1317A>C (n.*1317A>C)
c.4653A>C
c.5426A>C (p.Asp1809Ala)
c.5423A>C (p.Asp1808Ala)
c.5378A>C (p.Asp1793Ala)
c.4502A>C (p.Asp1501Ala)
c.4271A>C (p.Asp1424Ala)
10g.94298595A>GCA377642110PLCE1c.4460A>G (p.Asp1487Gly)
c.*1927A>G (n.*1927A>G)
n.2119A>G
n.803A>G
c.*668A>G (n.*668A>G)
c.4412A>G (p.Asp1471Gly)
n.9592A>G
n.3057A>G
c.5252A>G (p.Asp1751Gly)
c.5336A>G (p.Asp1779Gly)
c.5384A>G (p.Asp1795Gly)
c.4358A>G (p.Asp1453Gly)
c.3939A>G
c.3500A>G (p.Asp1167Gly)
c.*1317A>G (n.*1317A>G)
c.4653A>G
c.5426A>G (p.Asp1809Gly)
c.5423A>G (p.Asp1808Gly)
c.5378A>G (p.Asp1793Gly)
c.4502A>G (p.Asp1501Gly)
c.4271A>G (p.Asp1424Gly)
10g.94298595A>TCA377642111PLCE1c.4460A>T (p.Asp1487Val)
c.*1927A>T (n.*1927A>T)
n.2119A>T
n.803A>T
c.*668A>T (n.*668A>T)
c.4412A>T (p.Asp1471Val)
n.9592A>T
n.3057A>T
c.5252A>T (p.Asp1751Val)
c.5336A>T (p.Asp1779Val)
c.5384A>T (p.Asp1795Val)
c.4358A>T (p.Asp1453Val)
c.3939A>T
c.3500A>T (p.Asp1167Val)
c.*1317A>T (n.*1317A>T)
c.4653A>T
c.5426A>T (p.Asp1809Val)
c.5423A>T (p.Asp1808Val)
c.5378A>T (p.Asp1793Val)
c.4502A>T (p.Asp1501Val)
c.4271A>T (p.Asp1424Val)
10g.94298596C>ACA377642112PLCE1c.4461C>A (p.Asp1487Glu)
c.*1928C>A (n.*1928C>A)
n.2120C>A
n.804C>A
c.*669C>A (n.*669C>A)
c.4413C>A (p.Asp1471Glu)
n.9593C>A
n.3058C>A
c.5253C>A (p.Asp1751Glu)
c.5337C>A (p.Asp1779Glu)
c.5385C>A (p.Asp1795Glu)
c.4359C>A (p.Asp1453Glu)
c.3940C>A
c.3501C>A (p.Asp1167Glu)
c.*1318C>A (n.*1318C>A)
c.4654C>A
c.5427C>A (p.Asp1809Glu)
c.5424C>A (p.Asp1808Glu)
c.5379C>A (p.Asp1793Glu)
c.4503C>A (p.Asp1501Glu)
c.4272C>A (p.Asp1424Glu)
dbSNP
10g.94298596C=CA1928998451PLCE1c.4461C= (p.Asp1487=)
c.*1928C= (n.*1928C=)
n.2120C=
n.804C=
c.*669C= (n.*669C=)
c.4413C= (p.Asp1471=)
n.9593C=
n.3058C=
c.5253C= (p.Asp1751=)
c.5337C= (p.Asp1779=)
c.5385C= (p.Asp1795=)
c.4359C= (p.Asp1453=)
c.3940C=
c.3501C= (p.Asp1167=)
c.*1318C= (n.*1318C=)
c.4654C=
c.5427C= (p.Asp1809=)
c.5424C= (p.Asp1808=)
c.5379C= (p.Asp1793=)
c.4503C= (p.Asp1501=)
c.4272C= (p.Asp1424=)
10g.94298596C>GCA377642113PLCE1c.4461C>G (p.Asp1487Glu)
c.*1928C>G (n.*1928C>G)
n.2120C>G
n.804C>G
c.*669C>G (n.*669C>G)
c.4413C>G (p.Asp1471Glu)
n.9593C>G
n.3058C>G
c.5253C>G (p.Asp1751Glu)
c.5337C>G (p.Asp1779Glu)
c.5385C>G (p.Asp1795Glu)
c.4359C>G (p.Asp1453Glu)
c.3940C>G
c.3501C>G (p.Asp1167Glu)
c.*1318C>G (n.*1318C>G)
c.4654C>G
c.5427C>G (p.Asp1809Glu)
c.5424C>G (p.Asp1808Glu)
c.5379C>G (p.Asp1793Glu)
c.4503C>G (p.Asp1501Glu)
c.4272C>G (p.Asp1424Glu)
gnomAD v4
10g.94298596C>TCA470986608PLCE1c.4461C>T (p.Asp1487=)
c.*1928C>T (n.*1928C>T)
n.2120C>T
n.804C>T
c.*669C>T (n.*669C>T)
c.4413C>T (p.Asp1471=)
n.9593C>T
n.3058C>T
c.5253C>T (p.Asp1751=)
c.5337C>T (p.Asp1779=)
c.5385C>T (p.Asp1795=)
c.4359C>T (p.Asp1453=)
c.3940C>T
c.3501C>T (p.Asp1167=)
c.*1318C>T (n.*1318C>T)
c.4654C>T
c.5427C>T (p.Asp1809=)
c.5424C>T (p.Asp1808=)
c.5379C>T (p.Asp1793=)
c.4503C>T (p.Asp1501=)
c.4272C>T (p.Asp1424=)
10g.94298597T>ACA377642114PLCE1c.4462T>A (p.Ser1488Thr)
c.*1929T>A (n.*1929T>A)
n.2121T>A
n.805T>A
c.*670T>A (n.*670T>A)
c.4414T>A (p.Ser1472Thr)
n.9594T>A
n.3059T>A
c.5254T>A (p.Ser1752Thr)
c.5338T>A (p.Ser1780Thr)
c.5386T>A (p.Ser1796Thr)
c.4360T>A (p.Ser1454Thr)
c.3941T>A
c.3502T>A (p.Ser1168Thr)
c.*1319T>A (n.*1319T>A)
c.4655T>A
c.5428T>A (p.Ser1810Thr)
c.5425T>A (p.Ser1809Thr)
c.5380T>A (p.Ser1794Thr)
c.4504T>A (p.Ser1502Thr)
c.4273T>A (p.Ser1425Thr)
10g.94298597T>CCA377642115PLCE1c.4462T>C (p.Ser1488Pro)
c.*1929T>C (n.*1929T>C)
n.2121T>C
n.805T>C
c.*670T>C (n.*670T>C)
c.4414T>C (p.Ser1472Pro)
n.9594T>C
n.3059T>C
c.5254T>C (p.Ser1752Pro)
c.5338T>C (p.Ser1780Pro)
c.5386T>C (p.Ser1796Pro)
c.4360T>C (p.Ser1454Pro)
c.3941T>C
c.3502T>C (p.Ser1168Pro)
c.*1319T>C (n.*1319T>C)
c.4655T>C
c.5428T>C (p.Ser1810Pro)
c.5425T>C (p.Ser1809Pro)
c.5380T>C (p.Ser1794Pro)
c.4504T>C (p.Ser1502Pro)
c.4273T>C (p.Ser1425Pro)
10g.94298597T>GCA377642116PLCE1c.4462T>G (p.Ser1488Ala)
c.*1929T>G (n.*1929T>G)
n.2121T>G
n.805T>G
c.*670T>G (n.*670T>G)
c.4414T>G (p.Ser1472Ala)
n.9594T>G
n.3059T>G
c.5254T>G (p.Ser1752Ala)
c.5338T>G (p.Ser1780Ala)
c.5386T>G (p.Ser1796Ala)
c.4360T>G (p.Ser1454Ala)
c.3941T>G
c.3502T>G (p.Ser1168Ala)
c.*1319T>G (n.*1319T>G)
c.4655T>G
c.5428T>G (p.Ser1810Ala)
c.5425T>G (p.Ser1809Ala)
c.5380T>G (p.Ser1794Ala)
c.4504T>G (p.Ser1502Ala)
c.4273T>G (p.Ser1425Ala)
10g.94298598C>ACA377642117PLCE1c.4463C>A (p.Ser1488Tyr)
c.*1930C>A (n.*1930C>A)
n.2122C>A
n.806C>A
c.*671C>A (n.*671C>A)
c.4415C>A (p.Ser1472Tyr)
n.9595C>A
n.3060C>A
c.5255C>A (p.Ser1752Tyr)
c.5339C>A (p.Ser1780Tyr)
c.5387C>A (p.Ser1796Tyr)
c.4361C>A (p.Ser1454Tyr)
c.3942C>A
c.3503C>A (p.Ser1168Tyr)
c.*1320C>A (n.*1320C>A)
c.4656C>A
c.5429C>A (p.Ser1810Tyr)
c.5426C>A (p.Ser1809Tyr)
c.5381C>A (p.Ser1794Tyr)
c.4505C>A (p.Ser1502Tyr)
c.4274C>A (p.Ser1425Tyr)
10g.94298598C>GCA377642118PLCE1c.4463C>G (p.Ser1488Cys)
c.*1930C>G (n.*1930C>G)
n.2122C>G
n.806C>G
c.*671C>G (n.*671C>G)
c.4415C>G (p.Ser1472Cys)
n.9595C>G
n.3060C>G
c.5255C>G (p.Ser1752Cys)
c.5339C>G (p.Ser1780Cys)
c.5387C>G (p.Ser1796Cys)
c.4361C>G (p.Ser1454Cys)
c.3942C>G
c.3503C>G (p.Ser1168Cys)
c.*1320C>G (n.*1320C>G)
c.4656C>G
c.5429C>G (p.Ser1810Cys)
c.5426C>G (p.Ser1809Cys)
c.5381C>G (p.Ser1794Cys)
c.4505C>G (p.Ser1502Cys)
c.4274C>G (p.Ser1425Cys)
10g.94298598C>TCA377642119PLCE1c.4463C>T (p.Ser1488Phe)
c.*1930C>T (n.*1930C>T)
n.2122C>T
n.806C>T
c.*671C>T (n.*671C>T)
c.4415C>T (p.Ser1472Phe)
n.9595C>T
n.3060C>T
c.5255C>T (p.Ser1752Phe)
c.5339C>T (p.Ser1780Phe)
c.5387C>T (p.Ser1796Phe)
c.4361C>T (p.Ser1454Phe)
c.3942C>T
c.3503C>T (p.Ser1168Phe)
c.*1320C>T (n.*1320C>T)
c.4656C>T
c.5429C>T (p.Ser1810Phe)
c.5426C>T (p.Ser1809Phe)
c.5381C>T (p.Ser1794Phe)
c.4505C>T (p.Ser1502Phe)
c.4274C>T (p.Ser1425Phe)
10g.94298599T>ACA470986609PLCE1c.4464T>A (p.Ser1488=)
c.*1931T>A (n.*1931T>A)
n.2123T>A
n.807T>A
c.*672T>A (n.*672T>A)
c.4416T>A (p.Ser1472=)
n.9596T>A
n.3061T>A
c.5256T>A (p.Ser1752=)
c.5340T>A (p.Ser1780=)
c.5388T>A (p.Ser1796=)
c.4362T>A (p.Ser1454=)
c.3943T>A
c.3504T>A (p.Ser1168=)
c.*1321T>A (n.*1321T>A)
c.4657T>A
c.5430T>A (p.Ser1810=)
c.5427T>A (p.Ser1809=)
c.5382T>A (p.Ser1794=)
c.4506T>A (p.Ser1502=)
c.4275T>A (p.Ser1425=)
10g.94298599T>CCA470986611PLCE1c.4464T>C (p.Ser1488=)
c.*1931T>C (n.*1931T>C)
n.2123T>C
n.807T>C
c.*672T>C (n.*672T>C)
c.4416T>C (p.Ser1472=)
n.9596T>C
n.3061T>C
c.5256T>C (p.Ser1752=)
c.5340T>C (p.Ser1780=)
c.5388T>C (p.Ser1796=)
c.4362T>C (p.Ser1454=)
c.3943T>C
c.3504T>C (p.Ser1168=)
c.*1321T>C (n.*1321T>C)
c.4657T>C
c.5430T>C (p.Ser1810=)
c.5427T>C (p.Ser1809=)
c.5382T>C (p.Ser1794=)
c.4506T>C (p.Ser1502=)
c.4275T>C (p.Ser1425=)
10g.94298599T>GCA470986612PLCE1c.4464T>G (p.Ser1488=)
c.*1931T>G (n.*1931T>G)
n.2123T>G
n.807T>G
c.*672T>G (n.*672T>G)
c.4416T>G (p.Ser1472=)
n.9596T>G
n.3061T>G
c.5256T>G (p.Ser1752=)
c.5340T>G (p.Ser1780=)
c.5388T>G (p.Ser1796=)
c.4362T>G (p.Ser1454=)
c.3943T>G
c.3504T>G (p.Ser1168=)
c.*1321T>G (n.*1321T>G)
c.4657T>G
c.5430T>G (p.Ser1810=)
c.5427T>G (p.Ser1809=)
c.5382T>G (p.Ser1794=)
c.4506T>G (p.Ser1502=)
c.4275T>G (p.Ser1425=)

Number of alleles fetched