| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94298496A>C | CA377641903 | PLCE1 | c.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) | |
| 10 | g.94298496A>G | CA377641901 | PLCE1 | c.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) | |
| 10 | g.94298496A>T | CA377641902 | PLCE1 | c.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) | |
| 10 | g.94298497A>C | CA377641904 | PLCE1 | c.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) | |
| 10 | g.94298497A>G | CA470986502 | PLCE1 | c.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=) | |
| 10 | g.94298497A>T | CA377641905 | PLCE1 | c.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) | |
| 10 | g.94298498A>C | CA377641906 | PLCE1 | c.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) | |
| 10 | g.94298498A>G | CA377641907 | PLCE1 | c.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) | |
| 10 | g.94298498A>T | CA377641908 | PLCE1 | c.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) | |
| 10 | g.94298499A= | CA1928998416 | PLCE1 | c.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=) | |
| 10 | g.94298499A>C | CA377641909 | PLCE1 | c.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) | |
| 10 | g.94298499A>G | CA377641910 | PLCE1 | c.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) | |
| 10 | g.94298499A>T | CA377641911 | PLCE1 | c.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 |
| 10 | g.94298500T>A | CA377641912 | PLCE1 | c.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) | |
| 10 | g.94298500T>C | CA470986507 | PLCE1 | c.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=) | |
| 10 | g.94298500T>G | CA377641913 | PLCE1 | c.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) | |
| 10 | g.94298501G>A | CA377641915 | PLCE1 | c.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) | |
| 10 | g.94298501G>C | CA377641914 | PLCE1 | c.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) | |
| 10 | g.94298501G= | CA1928998417 | PLCE1 | c.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=) | |
| 10 | g.94298501G>T | CA5613328 | PLCE1 | c.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 |
| 10 | g.94298502C>A | CA377641916 | PLCE1 | c.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 |
| 10 | g.94298502C>G | CA377641917 | PLCE1 | c.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) | |
| 10 | g.94298502C>T | CA377641918 | PLCE1 | c.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) | |
| 10 | g.94298502_94298503dup | CA2610239641 | PLCE1 | c.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 |
| 10 | g.94298503C>A | CA5613329 | PLCE1 | c.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 |
| 10 | g.94298503C= | CA1928998418 | PLCE1 | c.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=) | |
| 10 | g.94298503C>G | CA470986509 | PLCE1 | c.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 |
| 10 | g.94298503C>T | CA470986510 | PLCE1 | c.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 |
| 10 | g.94298504G>A | CA5613330 | PLCE1 | c.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 |
| 10 | g.94298504G>C | CA377641919 | PLCE1 | c.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) | |
| 10 | g.94298504G= | CA1928998419 | PLCE1 | c.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=) | |
| 10 | g.94298504G>T | CA377641920 | PLCE1 | c.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) | |
| 10 | g.94298505C>A | CA377641921 | PLCE1 | c.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) | |
| 10 | g.94298505C>G | CA377641922 | PLCE1 | c.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) | |
| 10 | g.94298505C>T | CA377641923 | PLCE1 | c.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) | |
| 10 | g.94298506C>A | CA470986513 | PLCE1 | c.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=) | |
| 10 | g.94298506C>G | CA470986514 | PLCE1 | c.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=) | |
| 10 | g.94298506C>T | CA470986515 | PLCE1 | c.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 |
| 10 | g.94298507A>C | CA377641924 | PLCE1 | c.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) | |
| 10 | g.94298507A>G | CA377641925 | PLCE1 | c.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) | |
| 10 | g.94298507A>T | CA377641926 | PLCE1 | c.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) | |
| 10 | g.94298508A>C | CA377641927 | PLCE1 | c.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) | |
| 10 | g.94298508A>G | CA377641929 | PLCE1 | c.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) | |
| 10 | g.94298508A>T | CA377641928 | PLCE1 | c.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) | |
| 10 | g.94298509A>C | CA377641930 | PLCE1 | c.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) | |
| 10 | g.94298509A>G | CA470986519 | PLCE1 | c.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=) | |
| 10 | g.94298509A>T | CA377641931 | PLCE1 | c.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) | |
| 10 | g.94298510C>A | CA377641932 | PLCE1 | c.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) | |
| 10 | g.94298510C>G | CA377641933 | PLCE1 | c.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) | |
| 10 | g.94298510C>T | CA377641934 | PLCE1 | c.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 |