| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 10 | g.94298511G>A | CA5613331 | PLCE1 | c.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) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94298511G>C | CA377641935 | PLCE1 | c.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) | |
| 10 | g.94298511G= | CA1928998420 | PLCE1 | c.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=) | |
| 10 | g.94298511G>T | CA377641936 | PLCE1 | c.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 |
| 10 | g.94298512T>A | CA5613332 | PLCE1 | c.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 |
| 10 | g.94298512T>C | CA470986521 | PLCE1 | c.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=) | |
| 10 | g.94298512T>G | CA470986522 | PLCE1 | c.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=) | |
| 10 | g.94298512T= | CA1928998421 | PLCE1 | c.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=) | |
| 10 | g.94298513C>A | CA377641937 | PLCE1 | c.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) | |
| 10 | g.94298513C>G | CA377641938 | PLCE1 | c.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 |
| 10 | g.94298513C>T | CA470986523 | PLCE1 | c.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 |
| 10 | g.94298514T>A | CA377641940 | PLCE1 | c.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) | |
| 10 | g.94298514T>C | CA377641941 | PLCE1 | c.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) | |
| 10 | g.94298514T>G | CA377641939 | PLCE1 | c.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) | |
| 10 | g.94298515G>A | CA470986525 | PLCE1 | c.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 |
| 10 | g.94298515G>C | CA5613333 | PLCE1 | c.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 |