Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.94298454T>A | CA377641806 | PLCE1 | c.4319T>A (p.Ile1440Asn) c.*1786T>A (n.*1786T>A) n.1978T>A n.662T>A c.*527T>A (n.*527T>A) c.4271T>A (p.Ile1424Asn) n.9451T>A n.2916T>A c.5111T>A (p.Ile1704Asn) c.5195T>A (p.Ile1732Asn) c.5243T>A (p.Ile1748Asn) c.4217T>A (p.Ile1406Asn) c.3798T>A c.3359T>A (p.Ile1120Asn) c.*1176T>A (n.*1176T>A) c.4512T>A c.4088T>A (p.Ile1363Asn) c.5285T>A (p.Ile1762Asn) c.5282T>A (p.Ile1761Asn) c.5237T>A (p.Ile1746Asn) c.4361T>A (p.Ile1454Asn) c.4130T>A (p.Ile1377Asn) | gnomAD v4 |
10 | g.94298454T>C | CA377641807 | PLCE1 | c.4319T>C (p.Ile1440Thr) c.*1786T>C (n.*1786T>C) n.1978T>C n.662T>C c.*527T>C (n.*527T>C) c.4271T>C (p.Ile1424Thr) n.9451T>C n.2916T>C c.5111T>C (p.Ile1704Thr) c.5195T>C (p.Ile1732Thr) c.5243T>C (p.Ile1748Thr) c.4217T>C (p.Ile1406Thr) c.3798T>C c.3359T>C (p.Ile1120Thr) c.*1176T>C (n.*1176T>C) c.4512T>C c.4088T>C (p.Ile1363Thr) c.5285T>C (p.Ile1762Thr) c.5282T>C (p.Ile1761Thr) c.5237T>C (p.Ile1746Thr) c.4361T>C (p.Ile1454Thr) c.4130T>C (p.Ile1377Thr) | |
10 | g.94298454T>G | CA377641808 | PLCE1 | c.4319T>G (p.Ile1440Ser) c.*1786T>G (n.*1786T>G) n.1978T>G n.662T>G c.*527T>G (n.*527T>G) c.4271T>G (p.Ile1424Ser) n.9451T>G n.2916T>G c.5111T>G (p.Ile1704Ser) c.5195T>G (p.Ile1732Ser) c.5243T>G (p.Ile1748Ser) c.4217T>G (p.Ile1406Ser) c.3798T>G c.3359T>G (p.Ile1120Ser) c.*1176T>G (n.*1176T>G) c.4512T>G c.4088T>G (p.Ile1363Ser) c.5285T>G (p.Ile1762Ser) c.5282T>G (p.Ile1761Ser) c.5237T>G (p.Ile1746Ser) c.4361T>G (p.Ile1454Ser) c.4130T>G (p.Ile1377Ser) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298454T= | CA1928998402 | PLCE1 | c.4319T= (p.Ile1440=) c.*1786T= (n.*1786T=) n.1978T= n.662T= c.*527T= (n.*527T=) c.4271T= (p.Ile1424=) n.9451T= n.2916T= c.5111T= (p.Ile1704=) c.5195T= (p.Ile1732=) c.5243T= (p.Ile1748=) c.4217T= (p.Ile1406=) c.3798T= c.3359T= (p.Ile1120=) c.*1176T= (n.*1176T=) c.4512T= c.4088T= (p.Ile1363=) c.5285T= (p.Ile1762=) c.5282T= (p.Ile1761=) c.5237T= (p.Ile1746=) c.4361T= (p.Ile1454=) c.4130T= (p.Ile1377=) | |
10 | g.94298455C>A | CA470986463 | PLCE1 | c.4320C>A (p.Ile1440=) c.*1787C>A (n.*1787C>A) n.1979C>A n.663C>A c.*528C>A (n.*528C>A) c.4272C>A (p.Ile1424=) n.9452C>A n.2917C>A c.5112C>A (p.Ile1704=) c.5196C>A (p.Ile1732=) c.5244C>A (p.Ile1748=) c.4218C>A (p.Ile1406=) c.3799C>A c.3360C>A (p.Ile1120=) c.*1177C>A (n.*1177C>A) c.4513C>A c.4089C>A (p.Ile1363=) c.5286C>A (p.Ile1762=) c.5283C>A (p.Ile1761=) c.5238C>A (p.Ile1746=) c.4362C>A (p.Ile1454=) c.4131C>A (p.Ile1377=) | |
10 | g.94298455C>G | CA377641809 | PLCE1 | c.4320C>G (p.Ile1440Met) c.*1787C>G (n.*1787C>G) n.1979C>G n.663C>G c.*528C>G (n.*528C>G) c.4272C>G (p.Ile1424Met) n.9452C>G n.2917C>G c.5112C>G (p.Ile1704Met) c.5196C>G (p.Ile1732Met) c.5244C>G (p.Ile1748Met) c.4218C>G (p.Ile1406Met) c.3799C>G c.3360C>G (p.Ile1120Met) c.*1177C>G (n.*1177C>G) c.4513C>G c.4089C>G (p.Ile1363Met) c.5286C>G (p.Ile1762Met) c.5283C>G (p.Ile1761Met) c.5238C>G (p.Ile1746Met) c.4362C>G (p.Ile1454Met) c.4131C>G (p.Ile1377Met) | |
10 | g.94298455C>T | CA470986464 | PLCE1 | c.4320C>T (p.Ile1440=) c.*1787C>T (n.*1787C>T) n.1979C>T n.663C>T c.*528C>T (n.*528C>T) c.4272C>T (p.Ile1424=) n.9452C>T n.2917C>T c.5112C>T (p.Ile1704=) c.5196C>T (p.Ile1732=) c.5244C>T (p.Ile1748=) c.4218C>T (p.Ile1406=) c.3799C>T c.3360C>T (p.Ile1120=) c.*1177C>T (n.*1177C>T) c.4513C>T c.4089C>T (p.Ile1363=) c.5286C>T (p.Ile1762=) c.5283C>T (p.Ile1761=) c.5238C>T (p.Ile1746=) c.4362C>T (p.Ile1454=) c.4131C>T (p.Ile1377=) | |
10 | g.94298456A>C | CA377641810 | PLCE1 | c.4321A>C (p.Ile1441Leu) c.*1788A>C (n.*1788A>C) n.1980A>C n.664A>C c.*529A>C (n.*529A>C) c.4273A>C (p.Ile1425Leu) n.9453A>C n.2918A>C c.5113A>C (p.Ile1705Leu) c.5197A>C (p.Ile1733Leu) c.5245A>C (p.Ile1749Leu) c.4219A>C (p.Ile1407Leu) c.3800A>C c.3361A>C (p.Ile1121Leu) c.*1178A>C (n.*1178A>C) c.4514A>C c.4090A>C (p.Ile1364Leu) c.5287A>C (p.Ile1763Leu) c.5284A>C (p.Ile1762Leu) c.5239A>C (p.Ile1747Leu) c.4363A>C (p.Ile1455Leu) c.4132A>C (p.Ile1378Leu) | |
10 | g.94298456A>G | CA377641811 | PLCE1 | c.4321A>G (p.Ile1441Val) c.*1788A>G (n.*1788A>G) n.1980A>G n.664A>G c.*529A>G (n.*529A>G) c.4273A>G (p.Ile1425Val) n.9453A>G n.2918A>G c.5113A>G (p.Ile1705Val) c.5197A>G (p.Ile1733Val) c.5245A>G (p.Ile1749Val) c.4219A>G (p.Ile1407Val) c.3800A>G c.3361A>G (p.Ile1121Val) c.*1178A>G (n.*1178A>G) c.4514A>G c.4090A>G (p.Ile1364Val) c.5287A>G (p.Ile1763Val) c.5284A>G (p.Ile1762Val) c.5239A>G (p.Ile1747Val) c.4363A>G (p.Ile1455Val) c.4132A>G (p.Ile1378Val) | |
10 | g.94298456A>T | CA377641812 | PLCE1 | c.4321A>T (p.Ile1441Phe) c.*1788A>T (n.*1788A>T) n.1980A>T n.664A>T c.*529A>T (n.*529A>T) c.4273A>T (p.Ile1425Phe) n.9453A>T n.2918A>T c.5113A>T (p.Ile1705Phe) c.5197A>T (p.Ile1733Phe) c.5245A>T (p.Ile1749Phe) c.4219A>T (p.Ile1407Phe) c.3800A>T c.3361A>T (p.Ile1121Phe) c.*1178A>T (n.*1178A>T) c.4514A>T c.4090A>T (p.Ile1364Phe) c.5287A>T (p.Ile1763Phe) c.5284A>T (p.Ile1762Phe) c.5239A>T (p.Ile1747Phe) c.4363A>T (p.Ile1455Phe) c.4132A>T (p.Ile1378Phe) | |
10 | g.94298457T>A | CA377641813 | PLCE1 | c.4322T>A (p.Ile1441Asn) c.*1789T>A (n.*1789T>A) n.1981T>A n.665T>A c.*530T>A (n.*530T>A) c.4274T>A (p.Ile1425Asn) n.9454T>A n.2919T>A c.5114T>A (p.Ile1705Asn) c.5198T>A (p.Ile1733Asn) c.5246T>A (p.Ile1749Asn) c.4220T>A (p.Ile1407Asn) c.3801T>A c.3362T>A (p.Ile1121Asn) c.*1179T>A (n.*1179T>A) c.4515T>A c.4091T>A (p.Ile1364Asn) c.5288T>A (p.Ile1763Asn) c.5285T>A (p.Ile1762Asn) c.5240T>A (p.Ile1747Asn) c.4364T>A (p.Ile1455Asn) c.4133T>A (p.Ile1378Asn) | |
10 | g.94298457T>C | CA377641814 | PLCE1 | c.4322T>C (p.Ile1441Thr) c.*1789T>C (n.*1789T>C) n.1981T>C n.665T>C c.*530T>C (n.*530T>C) c.4274T>C (p.Ile1425Thr) n.9454T>C n.2919T>C c.5114T>C (p.Ile1705Thr) c.5198T>C (p.Ile1733Thr) c.5246T>C (p.Ile1749Thr) c.4220T>C (p.Ile1407Thr) c.3801T>C c.3362T>C (p.Ile1121Thr) c.*1179T>C (n.*1179T>C) c.4515T>C c.4091T>C (p.Ile1364Thr) c.5288T>C (p.Ile1763Thr) c.5285T>C (p.Ile1762Thr) c.5240T>C (p.Ile1747Thr) c.4364T>C (p.Ile1455Thr) c.4133T>C (p.Ile1378Thr) | |
10 | g.94298457T>G | CA377641815 | PLCE1 | c.4322T>G (p.Ile1441Ser) c.*1789T>G (n.*1789T>G) n.1981T>G n.665T>G c.*530T>G (n.*530T>G) c.4274T>G (p.Ile1425Ser) n.9454T>G n.2919T>G c.5114T>G (p.Ile1705Ser) c.5198T>G (p.Ile1733Ser) c.5246T>G (p.Ile1749Ser) c.4220T>G (p.Ile1407Ser) c.3801T>G c.3362T>G (p.Ile1121Ser) c.*1179T>G (n.*1179T>G) c.4515T>G c.4091T>G (p.Ile1364Ser) c.5288T>G (p.Ile1763Ser) c.5285T>G (p.Ile1762Ser) c.5240T>G (p.Ile1747Ser) c.4364T>G (p.Ile1455Ser) c.4133T>G (p.Ile1378Ser) | |
10 | g.94298458T>A | CA470986465 | PLCE1 | c.4323T>A (p.Ile1441=) c.*1790T>A (n.*1790T>A) n.1982T>A n.666T>A c.*531T>A (n.*531T>A) c.4275T>A (p.Ile1425=) n.9455T>A n.2920T>A c.5115T>A (p.Ile1705=) c.5199T>A (p.Ile1733=) c.5247T>A (p.Ile1749=) c.4221T>A (p.Ile1407=) c.3802T>A c.3363T>A (p.Ile1121=) c.*1180T>A (n.*1180T>A) c.4516T>A c.4092T>A (p.Ile1364=) c.5289T>A (p.Ile1763=) c.5286T>A (p.Ile1762=) c.5241T>A (p.Ile1747=) c.4365T>A (p.Ile1455=) c.4134T>A (p.Ile1378=) | |
10 | g.94298458T>C | CA470986466 | PLCE1 | c.4323T>C (p.Ile1441=) c.*1790T>C (n.*1790T>C) n.1982T>C n.666T>C c.*531T>C (n.*531T>C) c.4275T>C (p.Ile1425=) n.9455T>C n.2920T>C c.5115T>C (p.Ile1705=) c.5199T>C (p.Ile1733=) c.5247T>C (p.Ile1749=) c.4221T>C (p.Ile1407=) c.3802T>C c.3363T>C (p.Ile1121=) c.*1180T>C (n.*1180T>C) c.4516T>C c.4092T>C (p.Ile1364=) c.5289T>C (p.Ile1763=) c.5286T>C (p.Ile1762=) c.5241T>C (p.Ile1747=) c.4365T>C (p.Ile1455=) c.4134T>C (p.Ile1378=) | |
10 | g.94298458T>G | CA377641816 | PLCE1 | c.4323T>G (p.Ile1441Met) c.*1790T>G (n.*1790T>G) n.1982T>G n.666T>G c.*531T>G (n.*531T>G) c.4275T>G (p.Ile1425Met) n.9455T>G n.2920T>G c.5115T>G (p.Ile1705Met) c.5199T>G (p.Ile1733Met) c.5247T>G (p.Ile1749Met) c.4221T>G (p.Ile1407Met) c.3802T>G c.3363T>G (p.Ile1121Met) c.*1180T>G (n.*1180T>G) c.4516T>G c.4092T>G (p.Ile1364Met) c.5289T>G (p.Ile1763Met) c.5286T>G (p.Ile1762Met) c.5241T>G (p.Ile1747Met) c.4365T>G (p.Ile1455Met) c.4134T>G (p.Ile1378Met) | |
10 | g.94298459A>C | CA470986467 | PLCE1 | c.4324A>C (p.Arg1442=) c.*1791A>C (n.*1791A>C) n.1983A>C n.667A>C c.*532A>C (n.*532A>C) c.4276A>C (p.Arg1426=) n.9456A>C n.2921A>C c.5116A>C (p.Arg1706=) c.5200A>C (p.Arg1734=) c.5248A>C (p.Arg1750=) c.4222A>C (p.Arg1408=) c.3803A>C c.3364A>C (p.Arg1122=) c.*1181A>C (n.*1181A>C) c.4517A>C c.4093A>C (p.Arg1365=) c.5290A>C (p.Arg1764=) c.5287A>C (p.Arg1763=) c.5242A>C (p.Arg1748=) c.4366A>C (p.Arg1456=) c.4135A>C (p.Arg1379=) | |
10 | g.94298459A>G | CA377641817 | PLCE1 | c.4324A>G (p.Arg1442Gly) c.*1791A>G (n.*1791A>G) n.1983A>G n.667A>G c.*532A>G (n.*532A>G) c.4276A>G (p.Arg1426Gly) n.9456A>G n.2921A>G c.5116A>G (p.Arg1706Gly) c.5200A>G (p.Arg1734Gly) c.5248A>G (p.Arg1750Gly) c.4222A>G (p.Arg1408Gly) c.3803A>G c.3364A>G (p.Arg1122Gly) c.*1181A>G (n.*1181A>G) c.4517A>G c.4093A>G (p.Arg1365Gly) c.5290A>G (p.Arg1764Gly) c.5287A>G (p.Arg1763Gly) c.5242A>G (p.Arg1748Gly) c.4366A>G (p.Arg1456Gly) c.4135A>G (p.Arg1379Gly) | |
10 | g.94298459A>T | CA377641818 | PLCE1 | c.4324A>T (p.Arg1442Ter) c.*1791A>T (n.*1791A>T) n.1983A>T n.667A>T c.*532A>T (n.*532A>T) c.4276A>T (p.Arg1426Ter) n.9456A>T n.2921A>T c.5116A>T (p.Arg1706Ter) c.5200A>T (p.Arg1734Ter) c.5248A>T (p.Arg1750Ter) c.4222A>T (p.Arg1408Ter) c.3803A>T c.3364A>T (p.Arg1122Ter) c.*1181A>T (n.*1181A>T) c.4517A>T c.4093A>T (p.Arg1365Ter) c.5290A>T (p.Arg1764Ter) c.5287A>T (p.Arg1763Ter) c.5242A>T (p.Arg1748Ter) c.4366A>T (p.Arg1456Ter) c.4135A>T (p.Arg1379Ter) | |
10 | g.94298460G>A | CA377641819 | PLCE1 | c.4325G>A (p.Arg1442Lys) c.*1792G>A (n.*1792G>A) n.1984G>A n.668G>A c.*533G>A (n.*533G>A) c.4277G>A (p.Arg1426Lys) n.9457G>A n.2922G>A c.5117G>A (p.Arg1706Lys) c.5201G>A (p.Arg1734Lys) c.5249G>A (p.Arg1750Lys) c.4223G>A (p.Arg1408Lys) c.3804G>A c.3365G>A (p.Arg1122Lys) c.*1182G>A (n.*1182G>A) c.4518G>A c.4094G>A (p.Arg1365Lys) c.5291G>A (p.Arg1764Lys) c.5288G>A (p.Arg1763Lys) c.5243G>A (p.Arg1748Lys) c.4367G>A (p.Arg1456Lys) c.4136G>A (p.Arg1379Lys) | |
10 | g.94298460G>C | CA377641820 | PLCE1 | c.4325G>C (p.Arg1442Thr) c.*1792G>C (n.*1792G>C) n.1984G>C n.668G>C c.*533G>C (n.*533G>C) c.4277G>C (p.Arg1426Thr) n.9457G>C n.2922G>C c.5117G>C (p.Arg1706Thr) c.5201G>C (p.Arg1734Thr) c.5249G>C (p.Arg1750Thr) c.4223G>C (p.Arg1408Thr) c.3804G>C c.3365G>C (p.Arg1122Thr) c.*1182G>C (n.*1182G>C) c.4518G>C c.4094G>C (p.Arg1365Thr) c.5291G>C (p.Arg1764Thr) c.5288G>C (p.Arg1763Thr) c.5243G>C (p.Arg1748Thr) c.4367G>C (p.Arg1456Thr) c.4136G>C (p.Arg1379Thr) | |
10 | g.94298460G>T | CA377641821 | PLCE1 | c.4325G>T (p.Arg1442Ile) c.*1792G>T (n.*1792G>T) n.1984G>T n.668G>T c.*533G>T (n.*533G>T) c.4277G>T (p.Arg1426Ile) n.9457G>T n.2922G>T c.5117G>T (p.Arg1706Ile) c.5201G>T (p.Arg1734Ile) c.5249G>T (p.Arg1750Ile) c.4223G>T (p.Arg1408Ile) c.3804G>T c.3365G>T (p.Arg1122Ile) c.*1182G>T (n.*1182G>T) c.4518G>T c.4094G>T (p.Arg1365Ile) c.5291G>T (p.Arg1764Ile) c.5288G>T (p.Arg1763Ile) c.5243G>T (p.Arg1748Ile) c.4367G>T (p.Arg1456Ile) c.4136G>T (p.Arg1379Ile) | |
10 | g.94298461A>C | CA377641822 | PLCE1 | c.4326A>C (p.Arg1442Ser) c.*1793A>C (n.*1793A>C) n.1985A>C n.669A>C c.*534A>C (n.*534A>C) c.4278A>C (p.Arg1426Ser) n.9458A>C n.2923A>C c.5118A>C (p.Arg1706Ser) c.5202A>C (p.Arg1734Ser) c.5250A>C (p.Arg1750Ser) c.4224A>C (p.Arg1408Ser) c.3805A>C c.3366A>C (p.Arg1122Ser) c.*1183A>C (n.*1183A>C) c.4519A>C c.4095A>C (p.Arg1365Ser) c.5292A>C (p.Arg1764Ser) c.5289A>C (p.Arg1763Ser) c.5244A>C (p.Arg1748Ser) c.4368A>C (p.Arg1456Ser) c.4137A>C (p.Arg1379Ser) | |
10 | g.94298461A>G | CA470986468 | PLCE1 | c.4326A>G (p.Arg1442=) c.*1793A>G (n.*1793A>G) n.1985A>G n.669A>G c.*534A>G (n.*534A>G) c.4278A>G (p.Arg1426=) n.9458A>G n.2923A>G c.5118A>G (p.Arg1706=) c.5202A>G (p.Arg1734=) c.5250A>G (p.Arg1750=) c.4224A>G (p.Arg1408=) c.3805A>G c.3366A>G (p.Arg1122=) c.*1183A>G (n.*1183A>G) c.4519A>G c.4095A>G (p.Arg1365=) c.5292A>G (p.Arg1764=) c.5289A>G (p.Arg1763=) c.5244A>G (p.Arg1748=) c.4368A>G (p.Arg1456=) c.4137A>G (p.Arg1379=) | |
10 | g.94298461A>T | CA377641823 | PLCE1 | c.4326A>T (p.Arg1442Ser) c.*1793A>T (n.*1793A>T) n.1985A>T n.669A>T c.*534A>T (n.*534A>T) c.4278A>T (p.Arg1426Ser) n.9458A>T n.2923A>T c.5118A>T (p.Arg1706Ser) c.5202A>T (p.Arg1734Ser) c.5250A>T (p.Arg1750Ser) c.4224A>T (p.Arg1408Ser) c.3805A>T c.3366A>T (p.Arg1122Ser) c.*1183A>T (n.*1183A>T) c.4519A>T c.4095A>T (p.Arg1365Ser) c.5292A>T (p.Arg1764Ser) c.5289A>T (p.Arg1763Ser) c.5244A>T (p.Arg1748Ser) c.4368A>T (p.Arg1456Ser) c.4137A>T (p.Arg1379Ser) | |
10 | g.94298462A>C | CA377641826 | PLCE1 | c.4327A>C (p.Thr1443Pro) c.*1794A>C (n.*1794A>C) n.1986A>C n.670A>C c.*535A>C (n.*535A>C) c.4279A>C (p.Thr1427Pro) n.9459A>C n.2924A>C c.5119A>C (p.Thr1707Pro) c.5203A>C (p.Thr1735Pro) c.5251A>C (p.Thr1751Pro) c.4225A>C (p.Thr1409Pro) c.3806A>C c.3367A>C (p.Thr1123Pro) c.*1184A>C (n.*1184A>C) c.4520A>C c.4096A>C (p.Thr1366Pro) c.5293A>C (p.Thr1765Pro) c.5290A>C (p.Thr1764Pro) c.5245A>C (p.Thr1749Pro) c.4369A>C (p.Thr1457Pro) c.4138A>C (p.Thr1380Pro) | |
10 | g.94298462A>G | CA377641825 | PLCE1 | c.4327A>G (p.Thr1443Ala) c.*1794A>G (n.*1794A>G) n.1986A>G n.670A>G c.*535A>G (n.*535A>G) c.4279A>G (p.Thr1427Ala) n.9459A>G n.2924A>G c.5119A>G (p.Thr1707Ala) c.5203A>G (p.Thr1735Ala) c.5251A>G (p.Thr1751Ala) c.4225A>G (p.Thr1409Ala) c.3806A>G c.3367A>G (p.Thr1123Ala) c.*1184A>G (n.*1184A>G) c.4520A>G c.4096A>G (p.Thr1366Ala) c.5293A>G (p.Thr1765Ala) c.5290A>G (p.Thr1764Ala) c.5245A>G (p.Thr1749Ala) c.4369A>G (p.Thr1457Ala) c.4138A>G (p.Thr1380Ala) | |
10 | g.94298462A>T | CA377641824 | PLCE1 | c.4327A>T (p.Thr1443Ser) c.*1794A>T (n.*1794A>T) n.1986A>T n.670A>T c.*535A>T (n.*535A>T) c.4279A>T (p.Thr1427Ser) n.9459A>T n.2924A>T c.5119A>T (p.Thr1707Ser) c.5203A>T (p.Thr1735Ser) c.5251A>T (p.Thr1751Ser) c.4225A>T (p.Thr1409Ser) c.3806A>T c.3367A>T (p.Thr1123Ser) c.*1184A>T (n.*1184A>T) c.4520A>T c.4096A>T (p.Thr1366Ser) c.5293A>T (p.Thr1765Ser) c.5290A>T (p.Thr1764Ser) c.5245A>T (p.Thr1749Ser) c.4369A>T (p.Thr1457Ser) c.4138A>T (p.Thr1380Ser) | |
10 | g.94298463C>A | CA377641827 | PLCE1 | c.4328C>A (p.Thr1443Asn) c.*1795C>A (n.*1795C>A) n.1987C>A n.671C>A c.*536C>A (n.*536C>A) c.4280C>A (p.Thr1427Asn) n.9460C>A n.2925C>A c.5120C>A (p.Thr1707Asn) c.5204C>A (p.Thr1735Asn) c.5252C>A (p.Thr1751Asn) c.4226C>A (p.Thr1409Asn) c.3807C>A c.3368C>A (p.Thr1123Asn) c.*1185C>A (n.*1185C>A) c.4521C>A c.4097C>A (p.Thr1366Asn) c.5294C>A (p.Thr1765Asn) c.5291C>A (p.Thr1764Asn) c.5246C>A (p.Thr1749Asn) c.4370C>A (p.Thr1457Asn) c.4139C>A (p.Thr1380Asn) | |
10 | g.94298463C= | CA1928998403 | PLCE1 | c.4328C= (p.Thr1443=) c.*1795C= (n.*1795C=) n.1987C= n.671C= c.*536C= (n.*536C=) c.4280C= (p.Thr1427=) n.9460C= n.2925C= c.5120C= (p.Thr1707=) c.5204C= (p.Thr1735=) c.5252C= (p.Thr1751=) c.4226C= (p.Thr1409=) c.3807C= c.3368C= (p.Thr1123=) c.*1185C= (n.*1185C=) c.4521C= c.4097C= (p.Thr1366=) c.5294C= (p.Thr1765=) c.5291C= (p.Thr1764=) c.5246C= (p.Thr1749=) c.4370C= (p.Thr1457=) c.4139C= (p.Thr1380=) | |
10 | g.94298463C>G | CA377641829 | PLCE1 | c.4328C>G (p.Thr1443Ser) c.*1795C>G (n.*1795C>G) n.1987C>G n.671C>G c.*536C>G (n.*536C>G) c.4280C>G (p.Thr1427Ser) n.9460C>G n.2925C>G c.5120C>G (p.Thr1707Ser) c.5204C>G (p.Thr1735Ser) c.5252C>G (p.Thr1751Ser) c.4226C>G (p.Thr1409Ser) c.3807C>G c.3368C>G (p.Thr1123Ser) c.*1185C>G (n.*1185C>G) c.4521C>G c.4097C>G (p.Thr1366Ser) c.5294C>G (p.Thr1765Ser) c.5291C>G (p.Thr1764Ser) c.5246C>G (p.Thr1749Ser) c.4370C>G (p.Thr1457Ser) c.4139C>G (p.Thr1380Ser) | |
10 | g.94298463C>T | CA377641828 | PLCE1 | c.4328C>T (p.Thr1443Ile) c.*1795C>T (n.*1795C>T) n.1987C>T n.671C>T c.*536C>T (n.*536C>T) c.4280C>T (p.Thr1427Ile) n.9460C>T n.2925C>T c.5120C>T (p.Thr1707Ile) c.5204C>T (p.Thr1735Ile) c.5252C>T (p.Thr1751Ile) c.4226C>T (p.Thr1409Ile) c.3807C>T c.3368C>T (p.Thr1123Ile) c.*1185C>T (n.*1185C>T) c.4521C>T c.4097C>T (p.Thr1366Ile) c.5294C>T (p.Thr1765Ile) c.5291C>T (p.Thr1764Ile) c.5246C>T (p.Thr1749Ile) c.4370C>T (p.Thr1457Ile) c.4139C>T (p.Thr1380Ile) | dbSNP |
10 | g.94298464T>A | CA470986472 | PLCE1 | c.4329T>A (p.Thr1443=) c.*1796T>A (n.*1796T>A) n.1988T>A n.672T>A c.*537T>A (n.*537T>A) c.4281T>A (p.Thr1427=) n.9461T>A n.2926T>A c.5121T>A (p.Thr1707=) c.5205T>A (p.Thr1735=) c.5253T>A (p.Thr1751=) c.4227T>A (p.Thr1409=) c.3808T>A c.3369T>A (p.Thr1123=) c.*1186T>A (n.*1186T>A) c.4522T>A c.4098T>A (p.Thr1366=) c.5295T>A (p.Thr1765=) c.5292T>A (p.Thr1764=) c.5247T>A (p.Thr1749=) c.4371T>A (p.Thr1457=) c.4140T>A (p.Thr1380=) | |
10 | g.94298464T>C | CA470986473 | PLCE1 | c.4329T>C (p.Thr1443=) c.*1796T>C (n.*1796T>C) n.1988T>C n.672T>C c.*537T>C (n.*537T>C) c.4281T>C (p.Thr1427=) n.9461T>C n.2926T>C c.5121T>C (p.Thr1707=) c.5205T>C (p.Thr1735=) c.5253T>C (p.Thr1751=) c.4227T>C (p.Thr1409=) c.3808T>C c.3369T>C (p.Thr1123=) c.*1186T>C (n.*1186T>C) c.4522T>C c.4098T>C (p.Thr1366=) c.5295T>C (p.Thr1765=) c.5292T>C (p.Thr1764=) c.5247T>C (p.Thr1749=) c.4371T>C (p.Thr1457=) c.4140T>C (p.Thr1380=) | dbSNP |
10 | g.94298464T>G | CA470986474 | PLCE1 | c.4329T>G (p.Thr1443=) c.*1796T>G (n.*1796T>G) n.1988T>G n.672T>G c.*537T>G (n.*537T>G) c.4281T>G (p.Thr1427=) n.9461T>G n.2926T>G c.5121T>G (p.Thr1707=) c.5205T>G (p.Thr1735=) c.5253T>G (p.Thr1751=) c.4227T>G (p.Thr1409=) c.3808T>G c.3369T>G (p.Thr1123=) c.*1186T>G (n.*1186T>G) c.4522T>G c.4098T>G (p.Thr1366=) c.5295T>G (p.Thr1765=) c.5292T>G (p.Thr1764=) c.5247T>G (p.Thr1749=) c.4371T>G (p.Thr1457=) c.4140T>G (p.Thr1380=) | |
10 | g.94298464T= | CA1928998404 | PLCE1 | c.4329T= (p.Thr1443=) c.*1796T= (n.*1796T=) n.1988T= n.672T= c.*537T= (n.*537T=) c.4281T= (p.Thr1427=) n.9461T= n.2926T= c.5121T= (p.Thr1707=) c.5205T= (p.Thr1735=) c.5253T= (p.Thr1751=) c.4227T= (p.Thr1409=) c.3808T= c.3369T= (p.Thr1123=) c.*1186T= (n.*1186T=) c.4522T= c.4098T= (p.Thr1366=) c.5295T= (p.Thr1765=) c.5292T= (p.Thr1764=) c.5247T= (p.Thr1749=) c.4371T= (p.Thr1457=) c.4140T= (p.Thr1380=) | |
10 | g.94298465C>A | CA377641830 | PLCE1 | c.4330C>A (p.Pro1444Thr) c.*1797C>A (n.*1797C>A) n.1989C>A n.673C>A c.*538C>A (n.*538C>A) c.4282C>A (p.Pro1428Thr) n.9462C>A n.2927C>A c.5122C>A (p.Pro1708Thr) c.5206C>A (p.Pro1736Thr) c.5254C>A (p.Pro1752Thr) c.4228C>A (p.Pro1410Thr) c.3809C>A c.3370C>A (p.Pro1124Thr) c.*1187C>A (n.*1187C>A) c.4523C>A c.4099C>A (p.Pro1367Thr) c.5296C>A (p.Pro1766Thr) c.5293C>A (p.Pro1765Thr) c.5248C>A (p.Pro1750Thr) c.4372C>A (p.Pro1458Thr) c.4141C>A (p.Pro1381Thr) | |
10 | g.94298465C>G | CA377641831 | PLCE1 | c.4330C>G (p.Pro1444Ala) c.*1797C>G (n.*1797C>G) n.1989C>G n.673C>G c.*538C>G (n.*538C>G) c.4282C>G (p.Pro1428Ala) n.9462C>G n.2927C>G c.5122C>G (p.Pro1708Ala) c.5206C>G (p.Pro1736Ala) c.5254C>G (p.Pro1752Ala) c.4228C>G (p.Pro1410Ala) c.3809C>G c.3370C>G (p.Pro1124Ala) c.*1187C>G (n.*1187C>G) c.4523C>G c.4099C>G (p.Pro1367Ala) c.5296C>G (p.Pro1766Ala) c.5293C>G (p.Pro1765Ala) c.5248C>G (p.Pro1750Ala) c.4372C>G (p.Pro1458Ala) c.4141C>G (p.Pro1381Ala) | |
10 | g.94298465C>T | CA377641832 | PLCE1 | c.4330C>T (p.Pro1444Ser) c.*1797C>T (n.*1797C>T) n.1989C>T n.673C>T c.*538C>T (n.*538C>T) c.4282C>T (p.Pro1428Ser) n.9462C>T n.2927C>T c.5122C>T (p.Pro1708Ser) c.5206C>T (p.Pro1736Ser) c.5254C>T (p.Pro1752Ser) c.4228C>T (p.Pro1410Ser) c.3809C>T c.3370C>T (p.Pro1124Ser) c.*1187C>T (n.*1187C>T) c.4523C>T c.4099C>T (p.Pro1367Ser) c.5296C>T (p.Pro1766Ser) c.5293C>T (p.Pro1765Ser) c.5248C>T (p.Pro1750Ser) c.4372C>T (p.Pro1458Ser) c.4141C>T (p.Pro1381Ser) | |
10 | g.94298466C>A | CA377641833 | PLCE1 | c.4331C>A (p.Pro1444His) c.*1798C>A (n.*1798C>A) n.1990C>A n.674C>A c.*539C>A (n.*539C>A) c.4283C>A (p.Pro1428His) n.9463C>A n.2928C>A c.5123C>A (p.Pro1708His) c.5207C>A (p.Pro1736His) c.5255C>A (p.Pro1752His) c.4229C>A (p.Pro1410His) c.3810C>A c.3371C>A (p.Pro1124His) c.*1188C>A (n.*1188C>A) c.4524C>A c.4100C>A (p.Pro1367His) c.5297C>A (p.Pro1766His) c.5294C>A (p.Pro1765His) c.5249C>A (p.Pro1750His) c.4373C>A (p.Pro1458His) c.4142C>A (p.Pro1381His) | |
10 | g.94298466C>G | CA377641834 | PLCE1 | c.4331C>G (p.Pro1444Arg) c.*1798C>G (n.*1798C>G) n.1990C>G n.674C>G c.*539C>G (n.*539C>G) c.4283C>G (p.Pro1428Arg) n.9463C>G n.2928C>G c.5123C>G (p.Pro1708Arg) c.5207C>G (p.Pro1736Arg) c.5255C>G (p.Pro1752Arg) c.4229C>G (p.Pro1410Arg) c.3810C>G c.3371C>G (p.Pro1124Arg) c.*1188C>G (n.*1188C>G) c.4524C>G c.4100C>G (p.Pro1367Arg) c.5297C>G (p.Pro1766Arg) c.5294C>G (p.Pro1765Arg) c.5249C>G (p.Pro1750Arg) c.4373C>G (p.Pro1458Arg) c.4142C>G (p.Pro1381Arg) | |
10 | g.94298466C>T | CA377641835 | PLCE1 | c.4331C>T (p.Pro1444Leu) c.*1798C>T (n.*1798C>T) n.1990C>T n.674C>T c.*539C>T (n.*539C>T) c.4283C>T (p.Pro1428Leu) n.9463C>T n.2928C>T c.5123C>T (p.Pro1708Leu) c.5207C>T (p.Pro1736Leu) c.5255C>T (p.Pro1752Leu) c.4229C>T (p.Pro1410Leu) c.3810C>T c.3371C>T (p.Pro1124Leu) c.*1188C>T (n.*1188C>T) c.4524C>T c.4100C>T (p.Pro1367Leu) c.5297C>T (p.Pro1766Leu) c.5294C>T (p.Pro1765Leu) c.5249C>T (p.Pro1750Leu) c.4373C>T (p.Pro1458Leu) c.4142C>T (p.Pro1381Leu) | |
10 | g.94298467C>A | CA470986475 | PLCE1 | c.4332C>A (p.Pro1444=) c.*1799C>A (n.*1799C>A) n.1991C>A n.675C>A c.*540C>A (n.*540C>A) c.4284C>A (p.Pro1428=) n.9464C>A n.2929C>A c.5124C>A (p.Pro1708=) c.5208C>A (p.Pro1736=) c.5256C>A (p.Pro1752=) c.4230C>A (p.Pro1410=) c.3811C>A c.3372C>A (p.Pro1124=) c.*1189C>A (n.*1189C>A) c.4525C>A c.4101C>A (p.Pro1367=) c.5298C>A (p.Pro1766=) c.5295C>A (p.Pro1765=) c.5250C>A (p.Pro1750=) c.4374C>A (p.Pro1458=) c.4143C>A (p.Pro1381=) | |
10 | g.94298467C>G | CA470986476 | PLCE1 | c.4332C>G (p.Pro1444=) c.*1799C>G (n.*1799C>G) n.1991C>G n.675C>G c.*540C>G (n.*540C>G) c.4284C>G (p.Pro1428=) n.9464C>G n.2929C>G c.5124C>G (p.Pro1708=) c.5208C>G (p.Pro1736=) c.5256C>G (p.Pro1752=) c.4230C>G (p.Pro1410=) c.3811C>G c.3372C>G (p.Pro1124=) c.*1189C>G (n.*1189C>G) c.4525C>G c.4101C>G (p.Pro1367=) c.5298C>G (p.Pro1766=) c.5295C>G (p.Pro1765=) c.5250C>G (p.Pro1750=) c.4374C>G (p.Pro1458=) c.4143C>G (p.Pro1381=) | |
10 | g.94298467C>T | CA470986477 | PLCE1 | c.4332C>T (p.Pro1444=) c.*1799C>T (n.*1799C>T) n.1991C>T n.675C>T c.*540C>T (n.*540C>T) c.4284C>T (p.Pro1428=) n.9464C>T n.2929C>T c.5124C>T (p.Pro1708=) c.5208C>T (p.Pro1736=) c.5256C>T (p.Pro1752=) c.4230C>T (p.Pro1410=) c.3811C>T c.3372C>T (p.Pro1124=) c.*1189C>T (n.*1189C>T) c.4525C>T c.4101C>T (p.Pro1367=) c.5298C>T (p.Pro1766=) c.5295C>T (p.Pro1765=) c.5250C>T (p.Pro1750=) c.4374C>T (p.Pro1458=) c.4143C>T (p.Pro1381=) | |
10 | g.94298468A>C | CA377641838 | PLCE1 | c.4333A>C (p.Lys1445Gln) c.*1800A>C (n.*1800A>C) n.1992A>C n.676A>C c.*541A>C (n.*541A>C) c.4285A>C (p.Lys1429Gln) n.9465A>C n.2930A>C c.5125A>C (p.Lys1709Gln) c.5209A>C (p.Lys1737Gln) c.5257A>C (p.Lys1753Gln) c.4231A>C (p.Lys1411Gln) c.3812A>C c.3373A>C (p.Lys1125Gln) c.*1190A>C (n.*1190A>C) c.4526A>C c.4102A>C (p.Lys1368Gln) c.5299A>C (p.Lys1767Gln) c.5296A>C (p.Lys1766Gln) c.5251A>C (p.Lys1751Gln) c.4375A>C (p.Lys1459Gln) c.4144A>C (p.Lys1382Gln) | |
10 | g.94298468A>G | CA377641836 | PLCE1 | c.4333A>G (p.Lys1445Glu) c.*1800A>G (n.*1800A>G) n.1992A>G n.676A>G c.*541A>G (n.*541A>G) c.4285A>G (p.Lys1429Glu) n.9465A>G n.2930A>G c.5125A>G (p.Lys1709Glu) c.5209A>G (p.Lys1737Glu) c.5257A>G (p.Lys1753Glu) c.4231A>G (p.Lys1411Glu) c.3812A>G c.3373A>G (p.Lys1125Glu) c.*1190A>G (n.*1190A>G) c.4526A>G c.4102A>G (p.Lys1368Glu) c.5299A>G (p.Lys1767Glu) c.5296A>G (p.Lys1766Glu) c.5251A>G (p.Lys1751Glu) c.4375A>G (p.Lys1459Glu) c.4144A>G (p.Lys1382Glu) | |
10 | g.94298468A>T | CA377641837 | PLCE1 | c.4333A>T (p.Lys1445Ter) c.*1800A>T (n.*1800A>T) n.1992A>T n.676A>T c.*541A>T (n.*541A>T) c.4285A>T (p.Lys1429Ter) n.9465A>T n.2930A>T c.5125A>T (p.Lys1709Ter) c.5209A>T (p.Lys1737Ter) c.5257A>T (p.Lys1753Ter) c.4231A>T (p.Lys1411Ter) c.3812A>T c.3373A>T (p.Lys1125Ter) c.*1190A>T (n.*1190A>T) c.4526A>T c.4102A>T (p.Lys1368Ter) c.5299A>T (p.Lys1767Ter) c.5296A>T (p.Lys1766Ter) c.5251A>T (p.Lys1751Ter) c.4375A>T (p.Lys1459Ter) c.4144A>T (p.Lys1382Ter) | |
10 | g.94298469A= | CA1928998405 | PLCE1 | c.4334A= (p.Lys1445=) c.*1801A= (n.*1801A=) n.1993A= n.677A= c.*542A= (n.*542A=) c.4286A= (p.Lys1429=) n.9466A= n.2931A= c.5126A= (p.Lys1709=) c.5210A= (p.Lys1737=) c.5258A= (p.Lys1753=) c.4232A= (p.Lys1411=) c.3813A= c.3374A= (p.Lys1125=) c.*1191A= (n.*1191A=) c.4527A= c.4103A= (p.Lys1368=) c.5300A= (p.Lys1767=) c.5297A= (p.Lys1766=) c.5252A= (p.Lys1751=) c.4376A= (p.Lys1459=) c.4145A= (p.Lys1382=) | |
10 | g.94298469A>C | CA377641839 | PLCE1 | c.4334A>C (p.Lys1445Thr) c.*1801A>C (n.*1801A>C) n.1993A>C n.677A>C c.*542A>C (n.*542A>C) c.4286A>C (p.Lys1429Thr) n.9466A>C n.2931A>C c.5126A>C (p.Lys1709Thr) c.5210A>C (p.Lys1737Thr) c.5258A>C (p.Lys1753Thr) c.4232A>C (p.Lys1411Thr) c.3813A>C c.3374A>C (p.Lys1125Thr) c.*1191A>C (n.*1191A>C) c.4527A>C c.4103A>C (p.Lys1368Thr) c.5300A>C (p.Lys1767Thr) c.5297A>C (p.Lys1766Thr) c.5252A>C (p.Lys1751Thr) c.4376A>C (p.Lys1459Thr) c.4145A>C (p.Lys1382Thr) |