| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94298588C>A | CA377642095 | PLCE1 | c.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) | |
| 10 | g.94298588C= | CA1928998447 | PLCE1 | c.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=) | |
| 10 | g.94298588C>G | CA377642094 | PLCE1 | c.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 |
| 10 | g.94298588C>T | CA377642093 | PLCE1 | c.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 |
| 10 | g.94298589G>A | CA377642096 | PLCE1 | c.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 |
| 10 | g.94298589G>C | CA377642097 | PLCE1 | c.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) | |
| 10 | g.94298589G= | CA1928998448 | PLCE1 | c.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=) | |
| 10 | g.94298589G>T | CA377642098 | PLCE1 | c.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) | |
| 10 | g.94298590C>A | CA470986604 | PLCE1 | c.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=) | |
| 10 | g.94298590C>G | CA470986603 | PLCE1 | c.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=) | |
| 10 | g.94298590C>T | CA470986602 | PLCE1 | c.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=) | |
| 10 | g.94298591A>C | CA377642099 | PLCE1 | c.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) | |
| 10 | g.94298591A>G | CA377642100 | PLCE1 | c.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 |
| 10 | g.94298591A>T | CA377642101 | PLCE1 | c.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) | |
| 10 | g.94298592T>A | CA377642102 | PLCE1 | c.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) | |
| 10 | g.94298592T>C | CA377642103 | PLCE1 | c.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) | |
| 10 | g.94298592T>G | CA377642104 | PLCE1 | c.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) | |
| 10 | g.94298593C>A | CA211599807 | PLCE1 | c.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 |
| 10 | g.94298593C= | CA1928998449 | PLCE1 | c.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=) | |
| 10 | g.94298593C>G | CA377642105 | PLCE1 | c.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) | |
| 10 | g.94298593C>T | CA5613349 | PLCE1 | c.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 |
| 10 | g.94298594G>A | CA377642108 | PLCE1 | c.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 |
| 10 | g.94298594G>C | CA377642106 | PLCE1 | c.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 |
| 10 | g.94298594G= | CA1928998450 | PLCE1 | c.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=) | |
| 10 | g.94298594G>T | CA377642107 | PLCE1 | c.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) | |
| 10 | g.94298595A>C | CA377642109 | PLCE1 | c.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) | |
| 10 | g.94298595A>G | CA377642110 | PLCE1 | c.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) | |
| 10 | g.94298595A>T | CA377642111 | PLCE1 | c.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) | |
| 10 | g.94298596C>A | CA377642112 | PLCE1 | c.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 |
| 10 | g.94298596C= | CA1928998451 | PLCE1 | c.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=) | |
| 10 | g.94298596C>G | CA377642113 | PLCE1 | c.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 |
| 10 | g.94298596C>T | CA470986608 | PLCE1 | c.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=) | |
| 10 | g.94298597T>A | CA377642114 | PLCE1 | c.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) | |
| 10 | g.94298597T>C | CA377642115 | PLCE1 | c.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) | |
| 10 | g.94298597T>G | CA377642116 | PLCE1 | c.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) | |
| 10 | g.94298598C>A | CA377642117 | PLCE1 | c.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) | |
| 10 | g.94298598C>G | CA377642118 | PLCE1 | c.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) | |
| 10 | g.94298598C>T | CA377642119 | PLCE1 | c.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) | |
| 10 | g.94298599T>A | CA470986609 | PLCE1 | c.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=) | |
| 10 | g.94298599T>C | CA470986611 | PLCE1 | c.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=) | |
| 10 | g.94298599T>G | CA470986612 | PLCE1 | c.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=) | |
| 10 | g.94298600T>A | CA377642122 | PLCE1 | c.4465T>A (p.Ser1489Thr) c.*1932T>A (n.*1932T>A) n.2124T>A n.808T>A c.*673T>A (n.*673T>A) c.4417T>A (p.Ser1473Thr) n.9597T>A n.3062T>A c.5257T>A (p.Ser1753Thr) c.5341T>A (p.Ser1781Thr) c.5389T>A (p.Ser1797Thr) c.4363T>A (p.Ser1455Thr) c.3944T>A c.3505T>A (p.Ser1169Thr) c.*1322T>A (n.*1322T>A) c.4658T>A c.5431T>A (p.Ser1811Thr) c.5428T>A (p.Ser1810Thr) c.5383T>A (p.Ser1795Thr) c.4507T>A (p.Ser1503Thr) c.4276T>A (p.Ser1426Thr) | |
| 10 | g.94298600T>C | CA377642121 | PLCE1 | c.4465T>C (p.Ser1489Pro) c.*1932T>C (n.*1932T>C) n.2124T>C n.808T>C c.*673T>C (n.*673T>C) c.4417T>C (p.Ser1473Pro) n.9597T>C n.3062T>C c.5257T>C (p.Ser1753Pro) c.5341T>C (p.Ser1781Pro) c.5389T>C (p.Ser1797Pro) c.4363T>C (p.Ser1455Pro) c.3944T>C c.3505T>C (p.Ser1169Pro) c.*1322T>C (n.*1322T>C) c.4658T>C c.5431T>C (p.Ser1811Pro) c.5428T>C (p.Ser1810Pro) c.5383T>C (p.Ser1795Pro) c.4507T>C (p.Ser1503Pro) c.4276T>C (p.Ser1426Pro) | |
| 10 | g.94298600T>G | CA377642120 | PLCE1 | c.4465T>G (p.Ser1489Ala) c.*1932T>G (n.*1932T>G) n.2124T>G n.808T>G c.*673T>G (n.*673T>G) c.4417T>G (p.Ser1473Ala) n.9597T>G n.3062T>G c.5257T>G (p.Ser1753Ala) c.5341T>G (p.Ser1781Ala) c.5389T>G (p.Ser1797Ala) c.4363T>G (p.Ser1455Ala) c.3944T>G c.3505T>G (p.Ser1169Ala) c.*1322T>G (n.*1322T>G) c.4658T>G c.5431T>G (p.Ser1811Ala) c.5428T>G (p.Ser1810Ala) c.5383T>G (p.Ser1795Ala) c.4507T>G (p.Ser1503Ala) c.4276T>G (p.Ser1426Ala) | dbSNP |
| 10 | g.94298600T= | CA1928998452 | PLCE1 | c.4465T= (p.Ser1489=) c.*1932T= (n.*1932T=) n.2124T= n.808T= c.*673T= (n.*673T=) c.4417T= (p.Ser1473=) n.9597T= n.3062T= c.5257T= (p.Ser1753=) c.5341T= (p.Ser1781=) c.5389T= (p.Ser1797=) c.4363T= (p.Ser1455=) c.3944T= c.3505T= (p.Ser1169=) c.*1322T= (n.*1322T=) c.4658T= c.5431T= (p.Ser1811=) c.5428T= (p.Ser1810=) c.5383T= (p.Ser1795=) c.4507T= (p.Ser1503=) c.4276T= (p.Ser1426=) | |
| 10 | g.94298601C>A | CA377642123 | PLCE1 | c.4466C>A (p.Ser1489Tyr) c.*1933C>A (n.*1933C>A) n.2125C>A n.809C>A c.*674C>A (n.*674C>A) c.4418C>A (p.Ser1473Tyr) n.9598C>A n.3063C>A c.5258C>A (p.Ser1753Tyr) c.5342C>A (p.Ser1781Tyr) c.5390C>A (p.Ser1797Tyr) c.4364C>A (p.Ser1455Tyr) c.3945C>A c.3506C>A (p.Ser1169Tyr) c.*1323C>A (n.*1323C>A) c.4659C>A c.5432C>A (p.Ser1811Tyr) c.5429C>A (p.Ser1810Tyr) c.5384C>A (p.Ser1795Tyr) c.4508C>A (p.Ser1503Tyr) c.4277C>A (p.Ser1426Tyr) | |
| 10 | g.94298601C= | CA1928998453 | PLCE1 | c.4466C= (p.Ser1489=) c.*1933C= (n.*1933C=) n.2125C= n.809C= c.*674C= (n.*674C=) c.4418C= (p.Ser1473=) n.9598C= n.3063C= c.5258C= (p.Ser1753=) c.5342C= (p.Ser1781=) c.5390C= (p.Ser1797=) c.4364C= (p.Ser1455=) c.3945C= c.3506C= (p.Ser1169=) c.*1323C= (n.*1323C=) c.4659C= c.5432C= (p.Ser1811=) c.5429C= (p.Ser1810=) c.5384C= (p.Ser1795=) c.4508C= (p.Ser1503=) c.4277C= (p.Ser1426=) | |
| 10 | g.94298601C>G | CA5613350 | PLCE1 | c.4466C>G (p.Ser1489Cys) c.*1933C>G (n.*1933C>G) n.2125C>G n.809C>G c.*674C>G (n.*674C>G) c.4418C>G (p.Ser1473Cys) n.9598C>G n.3063C>G c.5258C>G (p.Ser1753Cys) c.5342C>G (p.Ser1781Cys) c.5390C>G (p.Ser1797Cys) c.4364C>G (p.Ser1455Cys) c.3945C>G c.3506C>G (p.Ser1169Cys) c.*1323C>G (n.*1323C>G) c.4659C>G c.5432C>G (p.Ser1811Cys) c.5429C>G (p.Ser1810Cys) c.5384C>G (p.Ser1795Cys) c.4508C>G (p.Ser1503Cys) c.4277C>G (p.Ser1426Cys) | dbSNP ExAC gnomAD v2 |
| 10 | g.94298601C>T | CA377642124 | PLCE1 | c.4466C>T (p.Ser1489Phe) c.*1933C>T (n.*1933C>T) n.2125C>T n.809C>T c.*674C>T (n.*674C>T) c.4418C>T (p.Ser1473Phe) n.9598C>T n.3063C>T c.5258C>T (p.Ser1753Phe) c.5342C>T (p.Ser1781Phe) c.5390C>T (p.Ser1797Phe) c.4364C>T (p.Ser1455Phe) c.3945C>T c.3506C>T (p.Ser1169Phe) c.*1323C>T (n.*1323C>T) c.4659C>T c.5432C>T (p.Ser1811Phe) c.5429C>T (p.Ser1810Phe) c.5384C>T (p.Ser1795Phe) c.4508C>T (p.Ser1503Phe) c.4277C>T (p.Ser1426Phe) | |
| 10 | g.94298602C>A | CA470986613 | PLCE1 | c.4467C>A (p.Ser1489=) c.*1934C>A (n.*1934C>A) n.2126C>A n.810C>A c.*675C>A (n.*675C>A) c.4419C>A (p.Ser1473=) n.9599C>A n.3064C>A c.5259C>A (p.Ser1753=) c.5343C>A (p.Ser1781=) c.5391C>A (p.Ser1797=) c.4365C>A (p.Ser1455=) c.3946C>A c.3507C>A (p.Ser1169=) c.*1324C>A (n.*1324C>A) c.4660C>A c.5433C>A (p.Ser1811=) c.5430C>A (p.Ser1810=) c.5385C>A (p.Ser1795=) c.4509C>A (p.Ser1503=) c.4278C>A (p.Ser1426=) |