Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.94298491G>A | CA470986495 | PLCE1 | c.4356G>A (p.Leu1452=) c.*1823G>A (n.*1823G>A) n.2015G>A n.699G>A c.*564G>A (n.*564G>A) c.4308G>A (p.Leu1436=) n.9488G>A n.2953G>A c.5148G>A (p.Leu1716=) c.5232G>A (p.Leu1744=) c.5280G>A (p.Leu1760=) c.4254G>A (p.Leu1418=) c.3835G>A c.3396G>A (p.Leu1132=) c.*1213G>A (n.*1213G>A) c.4549G>A c.5322G>A (p.Leu1774=) c.5319G>A (p.Leu1773=) c.5274G>A (p.Leu1758=) c.4398G>A (p.Leu1466=) c.4167G>A (p.Leu1389=) | |
10 | g.94298491G>C | CA470986496 | PLCE1 | c.4356G>C (p.Leu1452=) c.*1823G>C (n.*1823G>C) n.2015G>C n.699G>C c.*564G>C (n.*564G>C) c.4308G>C (p.Leu1436=) n.9488G>C n.2953G>C c.5148G>C (p.Leu1716=) c.5232G>C (p.Leu1744=) c.5280G>C (p.Leu1760=) c.4254G>C (p.Leu1418=) c.3835G>C c.3396G>C (p.Leu1132=) c.*1213G>C (n.*1213G>C) c.4549G>C c.5322G>C (p.Leu1774=) c.5319G>C (p.Leu1773=) c.5274G>C (p.Leu1758=) c.4398G>C (p.Leu1466=) c.4167G>C (p.Leu1389=) | |
10 | g.94298491G>T | CA470986497 | PLCE1 | c.4356G>T (p.Leu1452=) c.*1823G>T (n.*1823G>T) n.2015G>T n.699G>T c.*564G>T (n.*564G>T) c.4308G>T (p.Leu1436=) n.9488G>T n.2953G>T c.5148G>T (p.Leu1716=) c.5232G>T (p.Leu1744=) c.5280G>T (p.Leu1760=) c.4254G>T (p.Leu1418=) c.3835G>T c.3396G>T (p.Leu1132=) c.*1213G>T (n.*1213G>T) c.4549G>T c.5322G>T (p.Leu1774=) c.5319G>T (p.Leu1773=) c.5274G>T (p.Leu1758=) c.4398G>T (p.Leu1466=) c.4167G>T (p.Leu1389=) | |
10 | g.94298492A>C | CA377641890 | PLCE1 | c.4357A>C (p.Asn1453His) c.*1824A>C (n.*1824A>C) n.2016A>C n.700A>C c.*565A>C (n.*565A>C) c.4309A>C (p.Asn1437His) n.9489A>C n.2954A>C c.5149A>C (p.Asn1717His) c.5233A>C (p.Asn1745His) c.5281A>C (p.Asn1761His) c.4255A>C (p.Asn1419His) c.3836A>C c.3397A>C (p.Asn1133His) c.*1214A>C (n.*1214A>C) c.4550A>C c.5323A>C (p.Asn1775His) c.5320A>C (p.Asn1774His) c.5275A>C (p.Asn1759His) c.4399A>C (p.Asn1467His) c.4168A>C (p.Asn1390His) | gnomAD v4 |
10 | g.94298492A>G | CA377641891 | PLCE1 | c.4357A>G (p.Asn1453Asp) c.*1824A>G (n.*1824A>G) n.2016A>G n.700A>G c.*565A>G (n.*565A>G) c.4309A>G (p.Asn1437Asp) n.9489A>G n.2954A>G c.5149A>G (p.Asn1717Asp) c.5233A>G (p.Asn1745Asp) c.5281A>G (p.Asn1761Asp) c.4255A>G (p.Asn1419Asp) c.3836A>G c.3397A>G (p.Asn1133Asp) c.*1214A>G (n.*1214A>G) c.4550A>G c.5323A>G (p.Asn1775Asp) c.5320A>G (p.Asn1774Asp) c.5275A>G (p.Asn1759Asp) c.4399A>G (p.Asn1467Asp) c.4168A>G (p.Asn1390Asp) | |
10 | g.94298492A>T | CA377641892 | PLCE1 | c.4357A>T (p.Asn1453Tyr) c.*1824A>T (n.*1824A>T) n.2016A>T n.700A>T c.*565A>T (n.*565A>T) c.4309A>T (p.Asn1437Tyr) n.9489A>T n.2954A>T c.5149A>T (p.Asn1717Tyr) c.5233A>T (p.Asn1745Tyr) c.5281A>T (p.Asn1761Tyr) c.4255A>T (p.Asn1419Tyr) c.3836A>T c.3397A>T (p.Asn1133Tyr) c.*1214A>T (n.*1214A>T) c.4550A>T c.5323A>T (p.Asn1775Tyr) c.5320A>T (p.Asn1774Tyr) c.5275A>T (p.Asn1759Tyr) c.4399A>T (p.Asn1467Tyr) c.4168A>T (p.Asn1390Tyr) | |
10 | g.94298493A>C | CA377641893 | PLCE1 | c.4358A>C (p.Asn1453Thr) c.*1825A>C (n.*1825A>C) n.2017A>C n.701A>C c.*566A>C (n.*566A>C) c.4310A>C (p.Asn1437Thr) n.9490A>C n.2955A>C c.5150A>C (p.Asn1717Thr) c.5234A>C (p.Asn1745Thr) c.5282A>C (p.Asn1761Thr) c.4256A>C (p.Asn1419Thr) c.3837A>C c.3398A>C (p.Asn1133Thr) c.*1215A>C (n.*1215A>C) c.4551A>C c.5324A>C (p.Asn1775Thr) c.5321A>C (p.Asn1774Thr) c.5276A>C (p.Asn1759Thr) c.4400A>C (p.Asn1467Thr) c.4169A>C (p.Asn1390Thr) | |
10 | g.94298493A>G | CA377641894 | PLCE1 | c.4358A>G (p.Asn1453Ser) c.*1825A>G (n.*1825A>G) n.2017A>G n.701A>G c.*566A>G (n.*566A>G) c.4310A>G (p.Asn1437Ser) n.9490A>G n.2955A>G c.5150A>G (p.Asn1717Ser) c.5234A>G (p.Asn1745Ser) c.5282A>G (p.Asn1761Ser) c.4256A>G (p.Asn1419Ser) c.3837A>G c.3398A>G (p.Asn1133Ser) c.*1215A>G (n.*1215A>G) c.4551A>G c.5324A>G (p.Asn1775Ser) c.5321A>G (p.Asn1774Ser) c.5276A>G (p.Asn1759Ser) c.4400A>G (p.Asn1467Ser) c.4169A>G (p.Asn1390Ser) | |
10 | g.94298493A>T | CA377641895 | PLCE1 | c.4358A>T (p.Asn1453Ile) c.*1825A>T (n.*1825A>T) n.2017A>T n.701A>T c.*566A>T (n.*566A>T) c.4310A>T (p.Asn1437Ile) n.9490A>T n.2955A>T c.5150A>T (p.Asn1717Ile) c.5234A>T (p.Asn1745Ile) c.5282A>T (p.Asn1761Ile) c.4256A>T (p.Asn1419Ile) c.3837A>T c.3398A>T (p.Asn1133Ile) c.*1215A>T (n.*1215A>T) c.4551A>T c.5324A>T (p.Asn1775Ile) c.5321A>T (p.Asn1774Ile) c.5276A>T (p.Asn1759Ile) c.4400A>T (p.Asn1467Ile) c.4169A>T (p.Asn1390Ile) | |
10 | g.94298494T>A | CA377641896 | PLCE1 | c.4359T>A (p.Asn1453Lys) c.*1826T>A (n.*1826T>A) n.2018T>A n.702T>A c.*567T>A (n.*567T>A) c.4311T>A (p.Asn1437Lys) n.9491T>A n.2956T>A c.5151T>A (p.Asn1717Lys) c.5235T>A (p.Asn1745Lys) c.5283T>A (p.Asn1761Lys) c.4257T>A (p.Asn1419Lys) c.3838T>A c.3399T>A (p.Asn1133Lys) c.*1216T>A (n.*1216T>A) c.4552T>A c.5325T>A (p.Asn1775Lys) c.5322T>A (p.Asn1774Lys) c.5277T>A (p.Asn1759Lys) c.4401T>A (p.Asn1467Lys) c.4170T>A (p.Asn1390Lys) | |
10 | g.94298494T>C | CA211599662 | PLCE1 | c.4359T>C (p.Asn1453=) c.*1826T>C (n.*1826T>C) n.2018T>C n.702T>C c.*567T>C (n.*567T>C) c.4311T>C (p.Asn1437=) n.9491T>C n.2956T>C c.5151T>C (p.Asn1717=) c.5235T>C (p.Asn1745=) c.5283T>C (p.Asn1761=) c.4257T>C (p.Asn1419=) c.3838T>C c.3399T>C (p.Asn1133=) c.*1216T>C (n.*1216T>C) c.4552T>C c.5325T>C (p.Asn1775=) c.5322T>C (p.Asn1774=) c.5277T>C (p.Asn1759=) c.4401T>C (p.Asn1467=) c.4170T>C (p.Asn1390=) | dbSNP |
10 | g.94298494T>G | CA377641897 | PLCE1 | c.4359T>G (p.Asn1453Lys) c.*1826T>G (n.*1826T>G) n.2018T>G n.702T>G c.*567T>G (n.*567T>G) c.4311T>G (p.Asn1437Lys) n.9491T>G n.2956T>G c.5151T>G (p.Asn1717Lys) c.5235T>G (p.Asn1745Lys) c.5283T>G (p.Asn1761Lys) c.4257T>G (p.Asn1419Lys) c.3838T>G c.3399T>G (p.Asn1133Lys) c.*1216T>G (n.*1216T>G) c.4552T>G c.5325T>G (p.Asn1775Lys) c.5322T>G (p.Asn1774Lys) c.5277T>G (p.Asn1759Lys) c.4401T>G (p.Asn1467Lys) c.4170T>G (p.Asn1390Lys) | |
10 | g.94298494T= | CA1928998415 | PLCE1 | c.4359T= (p.Asn1453=) c.*1826T= (n.*1826T=) n.2018T= n.702T= c.*567T= (n.*567T=) c.4311T= (p.Asn1437=) n.9491T= n.2956T= c.5151T= (p.Asn1717=) c.5235T= (p.Asn1745=) c.5283T= (p.Asn1761=) c.4257T= (p.Asn1419=) c.3838T= c.3399T= (p.Asn1133=) c.*1216T= (n.*1216T=) c.4552T= c.5325T= (p.Asn1775=) c.5322T= (p.Asn1774=) c.5277T= (p.Asn1759=) c.4401T= (p.Asn1467=) c.4170T= (p.Asn1390=) | |
10 | g.94298495G>A | CA377641898 | PLCE1 | c.4360G>A (p.Glu1454Lys) c.*1827G>A (n.*1827G>A) n.2019G>A n.703G>A c.*568G>A (n.*568G>A) c.4312G>A (p.Glu1438Lys) n.9492G>A n.2957G>A c.5152G>A (p.Glu1718Lys) c.5236G>A (p.Glu1746Lys) c.5284G>A (p.Glu1762Lys) c.4258G>A (p.Glu1420Lys) c.3839G>A c.3400G>A (p.Glu1134Lys) c.*1217G>A (n.*1217G>A) c.4553G>A c.5326G>A (p.Glu1776Lys) c.5323G>A (p.Glu1775Lys) c.5278G>A (p.Glu1760Lys) c.4402G>A (p.Glu1468Lys) c.4171G>A (p.Glu1391Lys) | |
10 | g.94298495G>C | CA377641899 | PLCE1 | c.4360G>C (p.Glu1454Gln) c.*1827G>C (n.*1827G>C) n.2019G>C n.703G>C c.*568G>C (n.*568G>C) c.4312G>C (p.Glu1438Gln) n.9492G>C n.2957G>C c.5152G>C (p.Glu1718Gln) c.5236G>C (p.Glu1746Gln) c.5284G>C (p.Glu1762Gln) c.4258G>C (p.Glu1420Gln) c.3839G>C c.3400G>C (p.Glu1134Gln) c.*1217G>C (n.*1217G>C) c.4553G>C c.5326G>C (p.Glu1776Gln) c.5323G>C (p.Glu1775Gln) c.5278G>C (p.Glu1760Gln) c.4402G>C (p.Glu1468Gln) c.4171G>C (p.Glu1391Gln) | |
10 | g.94298495G>T | CA377641900 | PLCE1 | c.4360G>T (p.Glu1454Ter) c.*1827G>T (n.*1827G>T) n.2019G>T n.703G>T c.*568G>T (n.*568G>T) c.4312G>T (p.Glu1438Ter) n.9492G>T n.2957G>T c.5152G>T (p.Glu1718Ter) c.5236G>T (p.Glu1746Ter) c.5284G>T (p.Glu1762Ter) c.4258G>T (p.Glu1420Ter) c.3839G>T c.3400G>T (p.Glu1134Ter) c.*1217G>T (n.*1217G>T) c.4553G>T c.5326G>T (p.Glu1776Ter) c.5323G>T (p.Glu1775Ter) c.5278G>T (p.Glu1760Ter) c.4402G>T (p.Glu1468Ter) c.4171G>T (p.Glu1391Ter) | |
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) |