Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.94298496A>CCA377641903PLCE1c.4361A>C (p.Glu1454Ala)
c.*1828A>C (n.*1828A>C)
n.2020A>C
n.704A>C
c.*569A>C (n.*569A>C)
c.4313A>C (p.Glu1438Ala)
n.9493A>C
n.2958A>C
c.5153A>C (p.Glu1718Ala)
c.5237A>C (p.Glu1746Ala)
c.5285A>C (p.Glu1762Ala)
c.4259A>C (p.Glu1420Ala)
c.3840A>C
c.3401A>C (p.Glu1134Ala)
c.*1218A>C (n.*1218A>C)
c.4554A>C
c.5327A>C (p.Glu1776Ala)
c.5324A>C (p.Glu1775Ala)
c.5279A>C (p.Glu1760Ala)
c.4403A>C (p.Glu1468Ala)
c.4172A>C (p.Glu1391Ala)
10g.94298496A>GCA377641901PLCE1c.4361A>G (p.Glu1454Gly)
c.*1828A>G (n.*1828A>G)
n.2020A>G
n.704A>G
c.*569A>G (n.*569A>G)
c.4313A>G (p.Glu1438Gly)
n.9493A>G
n.2958A>G
c.5153A>G (p.Glu1718Gly)
c.5237A>G (p.Glu1746Gly)
c.5285A>G (p.Glu1762Gly)
c.4259A>G (p.Glu1420Gly)
c.3840A>G
c.3401A>G (p.Glu1134Gly)
c.*1218A>G (n.*1218A>G)
c.4554A>G
c.5327A>G (p.Glu1776Gly)
c.5324A>G (p.Glu1775Gly)
c.5279A>G (p.Glu1760Gly)
c.4403A>G (p.Glu1468Gly)
c.4172A>G (p.Glu1391Gly)
10g.94298496A>TCA377641902PLCE1c.4361A>T (p.Glu1454Val)
c.*1828A>T (n.*1828A>T)
n.2020A>T
n.704A>T
c.*569A>T (n.*569A>T)
c.4313A>T (p.Glu1438Val)
n.9493A>T
n.2958A>T
c.5153A>T (p.Glu1718Val)
c.5237A>T (p.Glu1746Val)
c.5285A>T (p.Glu1762Val)
c.4259A>T (p.Glu1420Val)
c.3840A>T
c.3401A>T (p.Glu1134Val)
c.*1218A>T (n.*1218A>T)
c.4554A>T
c.5327A>T (p.Glu1776Val)
c.5324A>T (p.Glu1775Val)
c.5279A>T (p.Glu1760Val)
c.4403A>T (p.Glu1468Val)
c.4172A>T (p.Glu1391Val)
10g.94298497A>CCA377641904PLCE1c.4362A>C (p.Glu1454Asp)
c.*1829A>C (n.*1829A>C)
n.2021A>C
n.705A>C
c.*570A>C (n.*570A>C)
c.4314A>C (p.Glu1438Asp)
n.9494A>C
n.2959A>C
c.5154A>C (p.Glu1718Asp)
c.5238A>C (p.Glu1746Asp)
c.5286A>C (p.Glu1762Asp)
c.4260A>C (p.Glu1420Asp)
c.3841A>C
c.3402A>C (p.Glu1134Asp)
c.*1219A>C (n.*1219A>C)
c.4555A>C
c.5328A>C (p.Glu1776Asp)
c.5325A>C (p.Glu1775Asp)
c.5280A>C (p.Glu1760Asp)
c.4404A>C (p.Glu1468Asp)
c.4173A>C (p.Glu1391Asp)
10g.94298497A>GCA470986502PLCE1c.4362A>G (p.Glu1454=)
c.*1829A>G (n.*1829A>G)
n.2021A>G
n.705A>G
c.*570A>G (n.*570A>G)
c.4314A>G (p.Glu1438=)
n.9494A>G
n.2959A>G
c.5154A>G (p.Glu1718=)
c.5238A>G (p.Glu1746=)
c.5286A>G (p.Glu1762=)
c.4260A>G (p.Glu1420=)
c.3841A>G
c.3402A>G (p.Glu1134=)
c.*1219A>G (n.*1219A>G)
c.4555A>G
c.5328A>G (p.Glu1776=)
c.5325A>G (p.Glu1775=)
c.5280A>G (p.Glu1760=)
c.4404A>G (p.Glu1468=)
c.4173A>G (p.Glu1391=)
10g.94298497A>TCA377641905PLCE1c.4362A>T (p.Glu1454Asp)
c.*1829A>T (n.*1829A>T)
n.2021A>T
n.705A>T
c.*570A>T (n.*570A>T)
c.4314A>T (p.Glu1438Asp)
n.9494A>T
n.2959A>T
c.5154A>T (p.Glu1718Asp)
c.5238A>T (p.Glu1746Asp)
c.5286A>T (p.Glu1762Asp)
c.4260A>T (p.Glu1420Asp)
c.3841A>T
c.3402A>T (p.Glu1134Asp)
c.*1219A>T (n.*1219A>T)
c.4555A>T
c.5328A>T (p.Glu1776Asp)
c.5325A>T (p.Glu1775Asp)
c.5280A>T (p.Glu1760Asp)
c.4404A>T (p.Glu1468Asp)
c.4173A>T (p.Glu1391Asp)
10g.94298498A>CCA377641906PLCE1c.4363A>C (p.Asn1455His)
c.*1830A>C (n.*1830A>C)
n.2022A>C
n.706A>C
c.*571A>C (n.*571A>C)
c.4315A>C (p.Asn1439His)
n.9495A>C
n.2960A>C
c.5155A>C (p.Asn1719His)
c.5239A>C (p.Asn1747His)
c.5287A>C (p.Asn1763His)
c.4261A>C (p.Asn1421His)
c.3842A>C
c.3403A>C (p.Asn1135His)
c.*1220A>C (n.*1220A>C)
c.4556A>C
c.5329A>C (p.Asn1777His)
c.5326A>C (p.Asn1776His)
c.5281A>C (p.Asn1761His)
c.4405A>C (p.Asn1469His)
c.4174A>C (p.Asn1392His)
10g.94298498A>GCA377641907PLCE1c.4363A>G (p.Asn1455Asp)
c.*1830A>G (n.*1830A>G)
n.2022A>G
n.706A>G
c.*571A>G (n.*571A>G)
c.4315A>G (p.Asn1439Asp)
n.9495A>G
n.2960A>G
c.5155A>G (p.Asn1719Asp)
c.5239A>G (p.Asn1747Asp)
c.5287A>G (p.Asn1763Asp)
c.4261A>G (p.Asn1421Asp)
c.3842A>G
c.3403A>G (p.Asn1135Asp)
c.*1220A>G (n.*1220A>G)
c.4556A>G
c.5329A>G (p.Asn1777Asp)
c.5326A>G (p.Asn1776Asp)
c.5281A>G (p.Asn1761Asp)
c.4405A>G (p.Asn1469Asp)
c.4174A>G (p.Asn1392Asp)
10g.94298498A>TCA377641908PLCE1c.4363A>T (p.Asn1455Tyr)
c.*1830A>T (n.*1830A>T)
n.2022A>T
n.706A>T
c.*571A>T (n.*571A>T)
c.4315A>T (p.Asn1439Tyr)
n.9495A>T
n.2960A>T
c.5155A>T (p.Asn1719Tyr)
c.5239A>T (p.Asn1747Tyr)
c.5287A>T (p.Asn1763Tyr)
c.4261A>T (p.Asn1421Tyr)
c.3842A>T
c.3403A>T (p.Asn1135Tyr)
c.*1220A>T (n.*1220A>T)
c.4556A>T
c.5329A>T (p.Asn1777Tyr)
c.5326A>T (p.Asn1776Tyr)
c.5281A>T (p.Asn1761Tyr)
c.4405A>T (p.Asn1469Tyr)
c.4174A>T (p.Asn1392Tyr)
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

Number of alleles fetched