Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.5210751G>A | CA9108780 | PTPRS | n.599C>T n.424C>T c.5289C>T (p.Asp1763=) c.3948C>T (p.Asp1316=) c.5175C>T (p.Asp1725=) c.3960C>T (p.Asp1320=) n.4230C>T c.5250C>T (p.Asp1750=) c.5163C>T (p.Asp1721=) c.3936C>T (p.Asp1312=) c.5277C>T (p.Asp1759=) c.5265C>T (p.Asp1755=) c.5229C>T (p.Asp1743=) c.5217C>T (p.Asp1739=) c.5190C>T (p.Asp1730=) c.4023C>T (p.Asp1341=) c.4011C>T (p.Asp1337=) c.3975C>T (p.Asp1325=) c.3996C>T (p.Asp1332=) c.2916C>T (p.Asp972=) c.5262C>T (p.Asp1754=) c.5235C>T (p.Asp1745=) c.5214C>T (p.Asp1738=) c.5202C>T (p.Asp1734=) c.4536C>T (p.Asp1512=) c.4008C>T (p.Asp1336=) c.5223C>T (p.Asp1741=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.5210751G>C | CA403502135 | PTPRS | n.599C>G n.424C>G c.5289C>G (p.Asp1763Glu) c.3948C>G (p.Asp1316Glu) c.5175C>G (p.Asp1725Glu) c.3960C>G (p.Asp1320Glu) n.4230C>G c.5250C>G (p.Asp1750Glu) c.5163C>G (p.Asp1721Glu) c.3936C>G (p.Asp1312Glu) c.5277C>G (p.Asp1759Glu) c.5265C>G (p.Asp1755Glu) c.5229C>G (p.Asp1743Glu) c.5217C>G (p.Asp1739Glu) c.5190C>G (p.Asp1730Glu) c.4023C>G (p.Asp1341Glu) c.4011C>G (p.Asp1337Glu) c.3975C>G (p.Asp1325Glu) c.3996C>G (p.Asp1332Glu) c.2916C>G (p.Asp972Glu) c.5262C>G (p.Asp1754Glu) c.5235C>G (p.Asp1745Glu) c.5214C>G (p.Asp1738Glu) c.5202C>G (p.Asp1734Glu) c.4536C>G (p.Asp1512Glu) c.4008C>G (p.Asp1336Glu) c.5223C>G (p.Asp1741Glu) | |
19 | g.5210751G= | CA2319812214 | PTPRS | n.599C= n.424C= c.5289C= (p.Asp1763=) c.3948C= (p.Asp1316=) c.5175C= (p.Asp1725=) c.3960C= (p.Asp1320=) n.4230C= c.5250C= (p.Asp1750=) c.5163C= (p.Asp1721=) c.3936C= (p.Asp1312=) c.5277C= (p.Asp1759=) c.5265C= (p.Asp1755=) c.5229C= (p.Asp1743=) c.5217C= (p.Asp1739=) c.5190C= (p.Asp1730=) c.4023C= (p.Asp1341=) c.4011C= (p.Asp1337=) c.3975C= (p.Asp1325=) c.3996C= (p.Asp1332=) c.2916C= (p.Asp972=) c.5262C= (p.Asp1754=) c.5235C= (p.Asp1745=) c.5214C= (p.Asp1738=) c.5202C= (p.Asp1734=) c.4536C= (p.Asp1512=) c.4008C= (p.Asp1336=) c.5223C= (p.Asp1741=) | |
19 | g.5210751G>T | CA403502137 | PTPRS | n.599C>A n.424C>A c.5289C>A (p.Asp1763Glu) c.3948C>A (p.Asp1316Glu) c.5175C>A (p.Asp1725Glu) c.3960C>A (p.Asp1320Glu) n.4230C>A c.5250C>A (p.Asp1750Glu) c.5163C>A (p.Asp1721Glu) c.3936C>A (p.Asp1312Glu) c.5277C>A (p.Asp1759Glu) c.5265C>A (p.Asp1755Glu) c.5229C>A (p.Asp1743Glu) c.5217C>A (p.Asp1739Glu) c.5190C>A (p.Asp1730Glu) c.4023C>A (p.Asp1341Glu) c.4011C>A (p.Asp1337Glu) c.3975C>A (p.Asp1325Glu) c.3996C>A (p.Asp1332Glu) c.2916C>A (p.Asp972Glu) c.5262C>A (p.Asp1754Glu) c.5235C>A (p.Asp1745Glu) c.5214C>A (p.Asp1738Glu) c.5202C>A (p.Asp1734Glu) c.4536C>A (p.Asp1512Glu) c.4008C>A (p.Asp1336Glu) c.5223C>A (p.Asp1741Glu) | |
19 | g.5210752T>A | CA403502142 | PTPRS | n.598A>T n.423A>T c.5288A>T (p.Asp1763Val) c.3947A>T (p.Asp1316Val) c.5174A>T (p.Asp1725Val) c.3959A>T (p.Asp1320Val) n.4229A>T c.5249A>T (p.Asp1750Val) c.5162A>T (p.Asp1721Val) c.3935A>T (p.Asp1312Val) c.5276A>T (p.Asp1759Val) c.5264A>T (p.Asp1755Val) c.5228A>T (p.Asp1743Val) c.5216A>T (p.Asp1739Val) c.5189A>T (p.Asp1730Val) c.4022A>T (p.Asp1341Val) c.4010A>T (p.Asp1337Val) c.3974A>T (p.Asp1325Val) c.3995A>T (p.Asp1332Val) c.2915A>T (p.Asp972Val) c.5261A>T (p.Asp1754Val) c.5234A>T (p.Asp1745Val) c.5213A>T (p.Asp1738Val) c.5201A>T (p.Asp1734Val) c.4535A>T (p.Asp1512Val) c.4007A>T (p.Asp1336Val) c.5222A>T (p.Asp1741Val) | |
19 | g.5210752T>C | CA403502140 | PTPRS | n.598A>G n.423A>G c.5288A>G (p.Asp1763Gly) c.3947A>G (p.Asp1316Gly) c.5174A>G (p.Asp1725Gly) c.3959A>G (p.Asp1320Gly) n.4229A>G c.5249A>G (p.Asp1750Gly) c.5162A>G (p.Asp1721Gly) c.3935A>G (p.Asp1312Gly) c.5276A>G (p.Asp1759Gly) c.5264A>G (p.Asp1755Gly) c.5228A>G (p.Asp1743Gly) c.5216A>G (p.Asp1739Gly) c.5189A>G (p.Asp1730Gly) c.4022A>G (p.Asp1341Gly) c.4010A>G (p.Asp1337Gly) c.3974A>G (p.Asp1325Gly) c.3995A>G (p.Asp1332Gly) c.2915A>G (p.Asp972Gly) c.5261A>G (p.Asp1754Gly) c.5234A>G (p.Asp1745Gly) c.5213A>G (p.Asp1738Gly) c.5201A>G (p.Asp1734Gly) c.4535A>G (p.Asp1512Gly) c.4007A>G (p.Asp1336Gly) c.5222A>G (p.Asp1741Gly) | |
19 | g.5210752T>G | CA403502139 | PTPRS | n.598A>C n.423A>C c.5288A>C (p.Asp1763Ala) c.3947A>C (p.Asp1316Ala) c.5174A>C (p.Asp1725Ala) c.3959A>C (p.Asp1320Ala) n.4229A>C c.5249A>C (p.Asp1750Ala) c.5162A>C (p.Asp1721Ala) c.3935A>C (p.Asp1312Ala) c.5276A>C (p.Asp1759Ala) c.5264A>C (p.Asp1755Ala) c.5228A>C (p.Asp1743Ala) c.5216A>C (p.Asp1739Ala) c.5189A>C (p.Asp1730Ala) c.4022A>C (p.Asp1341Ala) c.4010A>C (p.Asp1337Ala) c.3974A>C (p.Asp1325Ala) c.3995A>C (p.Asp1332Ala) c.2915A>C (p.Asp972Ala) c.5261A>C (p.Asp1754Ala) c.5234A>C (p.Asp1745Ala) c.5213A>C (p.Asp1738Ala) c.5201A>C (p.Asp1734Ala) c.4535A>C (p.Asp1512Ala) c.4007A>C (p.Asp1336Ala) c.5222A>C (p.Asp1741Ala) | |
19 | g.5210753C>A | CA403502144 | PTPRS | n.597G>T n.422G>T c.5287G>T (p.Asp1763Tyr) c.3946G>T (p.Asp1316Tyr) c.5173G>T (p.Asp1725Tyr) c.3958G>T (p.Asp1320Tyr) n.4228G>T c.5248G>T (p.Asp1750Tyr) c.5161G>T (p.Asp1721Tyr) c.3934G>T (p.Asp1312Tyr) c.5275G>T (p.Asp1759Tyr) c.5263G>T (p.Asp1755Tyr) c.5227G>T (p.Asp1743Tyr) c.5215G>T (p.Asp1739Tyr) c.5188G>T (p.Asp1730Tyr) c.4021G>T (p.Asp1341Tyr) c.4009G>T (p.Asp1337Tyr) c.3973G>T (p.Asp1325Tyr) c.3994G>T (p.Asp1332Tyr) c.2914G>T (p.Asp972Tyr) c.5260G>T (p.Asp1754Tyr) c.5233G>T (p.Asp1745Tyr) c.5212G>T (p.Asp1738Tyr) c.5200G>T (p.Asp1734Tyr) c.4534G>T (p.Asp1512Tyr) c.4006G>T (p.Asp1336Tyr) c.5221G>T (p.Asp1741Tyr) | |
19 | g.5210753C>G | CA403502146 | PTPRS | n.597G>C n.422G>C c.5287G>C (p.Asp1763His) c.3946G>C (p.Asp1316His) c.5173G>C (p.Asp1725His) c.3958G>C (p.Asp1320His) n.4228G>C c.5248G>C (p.Asp1750His) c.5161G>C (p.Asp1721His) c.3934G>C (p.Asp1312His) c.5275G>C (p.Asp1759His) c.5263G>C (p.Asp1755His) c.5227G>C (p.Asp1743His) c.5215G>C (p.Asp1739His) c.5188G>C (p.Asp1730His) c.4021G>C (p.Asp1341His) c.4009G>C (p.Asp1337His) c.3973G>C (p.Asp1325His) c.3994G>C (p.Asp1332His) c.2914G>C (p.Asp972His) c.5260G>C (p.Asp1754His) c.5233G>C (p.Asp1745His) c.5212G>C (p.Asp1738His) c.5200G>C (p.Asp1734His) c.4534G>C (p.Asp1512His) c.4006G>C (p.Asp1336His) c.5221G>C (p.Asp1741His) | |
19 | g.5210753C>T | CA403502147 | PTPRS | n.597G>A n.422G>A c.5287G>A (p.Asp1763Asn) c.3946G>A (p.Asp1316Asn) c.5173G>A (p.Asp1725Asn) c.3958G>A (p.Asp1320Asn) n.4228G>A c.5248G>A (p.Asp1750Asn) c.5161G>A (p.Asp1721Asn) c.3934G>A (p.Asp1312Asn) c.5275G>A (p.Asp1759Asn) c.5263G>A (p.Asp1755Asn) c.5227G>A (p.Asp1743Asn) c.5215G>A (p.Asp1739Asn) c.5188G>A (p.Asp1730Asn) c.4021G>A (p.Asp1341Asn) c.4009G>A (p.Asp1337Asn) c.3973G>A (p.Asp1325Asn) c.3994G>A (p.Asp1332Asn) c.2914G>A (p.Asp972Asn) c.5260G>A (p.Asp1754Asn) c.5233G>A (p.Asp1745Asn) c.5212G>A (p.Asp1738Asn) c.5200G>A (p.Asp1734Asn) c.4534G>A (p.Asp1512Asn) c.4006G>A (p.Asp1336Asn) c.5221G>A (p.Asp1741Asn) | |
19 | g.5210754T>A | CA403502148 | PTPRS | n.596A>T n.421A>T c.5286A>T (p.Glu1762Asp) c.3945A>T (p.Glu1315Asp) c.5172A>T (p.Glu1724Asp) c.3957A>T (p.Glu1319Asp) n.4227A>T c.5247A>T (p.Glu1749Asp) c.5160A>T (p.Glu1720Asp) c.3933A>T (p.Glu1311Asp) c.5274A>T (p.Glu1758Asp) c.5262A>T (p.Glu1754Asp) c.5226A>T (p.Glu1742Asp) c.5214A>T (p.Glu1738Asp) c.5187A>T (p.Glu1729Asp) c.4020A>T (p.Glu1340Asp) c.4008A>T (p.Glu1336Asp) c.3972A>T (p.Glu1324Asp) c.3993A>T (p.Glu1331Asp) c.2913A>T (p.Glu971Asp) c.5259A>T (p.Glu1753Asp) c.5232A>T (p.Glu1744Asp) c.5211A>T (p.Glu1737Asp) c.5199A>T (p.Glu1733Asp) c.4533A>T (p.Glu1511Asp) c.4005A>T (p.Glu1335Asp) c.5220A>T (p.Glu1740Asp) | |
19 | g.5210754T>C | CA505177069 | PTPRS | n.596A>G n.421A>G c.5286A>G (p.Glu1762=) c.3945A>G (p.Glu1315=) c.5172A>G (p.Glu1724=) c.3957A>G (p.Glu1319=) n.4227A>G c.5247A>G (p.Glu1749=) c.5160A>G (p.Glu1720=) c.3933A>G (p.Glu1311=) c.5274A>G (p.Glu1758=) c.5262A>G (p.Glu1754=) c.5226A>G (p.Glu1742=) c.5214A>G (p.Glu1738=) c.5187A>G (p.Glu1729=) c.4020A>G (p.Glu1340=) c.4008A>G (p.Glu1336=) c.3972A>G (p.Glu1324=) c.3993A>G (p.Glu1331=) c.2913A>G (p.Glu971=) c.5259A>G (p.Glu1753=) c.5232A>G (p.Glu1744=) c.5211A>G (p.Glu1737=) c.5199A>G (p.Glu1733=) c.4533A>G (p.Glu1511=) c.4005A>G (p.Glu1335=) c.5220A>G (p.Glu1740=) | |
19 | g.5210754T>G | CA403502149 | PTPRS | n.596A>C n.421A>C c.5286A>C (p.Glu1762Asp) c.3945A>C (p.Glu1315Asp) c.5172A>C (p.Glu1724Asp) c.3957A>C (p.Glu1319Asp) n.4227A>C c.5247A>C (p.Glu1749Asp) c.5160A>C (p.Glu1720Asp) c.3933A>C (p.Glu1311Asp) c.5274A>C (p.Glu1758Asp) c.5262A>C (p.Glu1754Asp) c.5226A>C (p.Glu1742Asp) c.5214A>C (p.Glu1738Asp) c.5187A>C (p.Glu1729Asp) c.4020A>C (p.Glu1340Asp) c.4008A>C (p.Glu1336Asp) c.3972A>C (p.Glu1324Asp) c.3993A>C (p.Glu1331Asp) c.2913A>C (p.Glu971Asp) c.5259A>C (p.Glu1753Asp) c.5232A>C (p.Glu1744Asp) c.5211A>C (p.Glu1737Asp) c.5199A>C (p.Glu1733Asp) c.4533A>C (p.Glu1511Asp) c.4005A>C (p.Glu1335Asp) c.5220A>C (p.Glu1740Asp) | |
19 | g.5210755T>A | CA403502150 | PTPRS | n.595A>T n.420A>T c.5285A>T (p.Glu1762Val) c.3944A>T (p.Glu1315Val) c.5171A>T (p.Glu1724Val) c.3956A>T (p.Glu1319Val) n.4226A>T c.5246A>T (p.Glu1749Val) c.5159A>T (p.Glu1720Val) c.3932A>T (p.Glu1311Val) c.5273A>T (p.Glu1758Val) c.5261A>T (p.Glu1754Val) c.5225A>T (p.Glu1742Val) c.5213A>T (p.Glu1738Val) c.5186A>T (p.Glu1729Val) c.4019A>T (p.Glu1340Val) c.4007A>T (p.Glu1336Val) c.3971A>T (p.Glu1324Val) c.3992A>T (p.Glu1331Val) c.2912A>T (p.Glu971Val) c.5258A>T (p.Glu1753Val) c.5231A>T (p.Glu1744Val) c.5210A>T (p.Glu1737Val) c.5198A>T (p.Glu1733Val) c.4532A>T (p.Glu1511Val) c.4004A>T (p.Glu1335Val) c.5219A>T (p.Glu1740Val) | |
19 | g.5210755T>C | CA403502151 | PTPRS | n.595A>G n.420A>G c.5285A>G (p.Glu1762Gly) c.3944A>G (p.Glu1315Gly) c.5171A>G (p.Glu1724Gly) c.3956A>G (p.Glu1319Gly) n.4226A>G c.5246A>G (p.Glu1749Gly) c.5159A>G (p.Glu1720Gly) c.3932A>G (p.Glu1311Gly) c.5273A>G (p.Glu1758Gly) c.5261A>G (p.Glu1754Gly) c.5225A>G (p.Glu1742Gly) c.5213A>G (p.Glu1738Gly) c.5186A>G (p.Glu1729Gly) c.4019A>G (p.Glu1340Gly) c.4007A>G (p.Glu1336Gly) c.3971A>G (p.Glu1324Gly) c.3992A>G (p.Glu1331Gly) c.2912A>G (p.Glu971Gly) c.5258A>G (p.Glu1753Gly) c.5231A>G (p.Glu1744Gly) c.5210A>G (p.Glu1737Gly) c.5198A>G (p.Glu1733Gly) c.4532A>G (p.Glu1511Gly) c.4004A>G (p.Glu1335Gly) c.5219A>G (p.Glu1740Gly) | |
19 | g.5210755T>G | CA403502152 | PTPRS | n.595A>C n.420A>C c.5285A>C (p.Glu1762Ala) c.3944A>C (p.Glu1315Ala) c.5171A>C (p.Glu1724Ala) c.3956A>C (p.Glu1319Ala) n.4226A>C c.5246A>C (p.Glu1749Ala) c.5159A>C (p.Glu1720Ala) c.3932A>C (p.Glu1311Ala) c.5273A>C (p.Glu1758Ala) c.5261A>C (p.Glu1754Ala) c.5225A>C (p.Glu1742Ala) c.5213A>C (p.Glu1738Ala) c.5186A>C (p.Glu1729Ala) c.4019A>C (p.Glu1340Ala) c.4007A>C (p.Glu1336Ala) c.3971A>C (p.Glu1324Ala) c.3992A>C (p.Glu1331Ala) c.2912A>C (p.Glu971Ala) c.5258A>C (p.Glu1753Ala) c.5231A>C (p.Glu1744Ala) c.5210A>C (p.Glu1737Ala) c.5198A>C (p.Glu1733Ala) c.4532A>C (p.Glu1511Ala) c.4004A>C (p.Glu1335Ala) c.5219A>C (p.Glu1740Ala) | gnomAD v4 |
19 | g.5210756C>A | CA403502153 | PTPRS | n.594G>T n.419G>T c.5284G>T (p.Glu1762Ter) c.3943G>T (p.Glu1315Ter) c.5170G>T (p.Glu1724Ter) c.3955G>T (p.Glu1319Ter) n.4225G>T c.5245G>T (p.Glu1749Ter) c.5158G>T (p.Glu1720Ter) c.3931G>T (p.Glu1311Ter) c.5272G>T (p.Glu1758Ter) c.5260G>T (p.Glu1754Ter) c.5224G>T (p.Glu1742Ter) c.5212G>T (p.Glu1738Ter) c.5185G>T (p.Glu1729Ter) c.4018G>T (p.Glu1340Ter) c.4006G>T (p.Glu1336Ter) c.3970G>T (p.Glu1324Ter) c.3991G>T (p.Glu1331Ter) c.2911G>T (p.Glu971Ter) c.5257G>T (p.Glu1753Ter) c.5230G>T (p.Glu1744Ter) c.5209G>T (p.Glu1737Ter) c.5197G>T (p.Glu1733Ter) c.4531G>T (p.Glu1511Ter) c.4003G>T (p.Glu1335Ter) c.5218G>T (p.Glu1740Ter) | |
19 | g.5210756C>G | CA403502154 | PTPRS | n.594G>C n.419G>C c.5284G>C (p.Glu1762Gln) c.3943G>C (p.Glu1315Gln) c.5170G>C (p.Glu1724Gln) c.3955G>C (p.Glu1319Gln) n.4225G>C c.5245G>C (p.Glu1749Gln) c.5158G>C (p.Glu1720Gln) c.3931G>C (p.Glu1311Gln) c.5272G>C (p.Glu1758Gln) c.5260G>C (p.Glu1754Gln) c.5224G>C (p.Glu1742Gln) c.5212G>C (p.Glu1738Gln) c.5185G>C (p.Glu1729Gln) c.4018G>C (p.Glu1340Gln) c.4006G>C (p.Glu1336Gln) c.3970G>C (p.Glu1324Gln) c.3991G>C (p.Glu1331Gln) c.2911G>C (p.Glu971Gln) c.5257G>C (p.Glu1753Gln) c.5230G>C (p.Glu1744Gln) c.5209G>C (p.Glu1737Gln) c.5197G>C (p.Glu1733Gln) c.4531G>C (p.Glu1511Gln) c.4003G>C (p.Glu1335Gln) c.5218G>C (p.Glu1740Gln) | |
19 | g.5210756C>T | CA403502155 | PTPRS | n.594G>A n.419G>A c.5284G>A (p.Glu1762Lys) c.3943G>A (p.Glu1315Lys) c.5170G>A (p.Glu1724Lys) c.3955G>A (p.Glu1319Lys) n.4225G>A c.5245G>A (p.Glu1749Lys) c.5158G>A (p.Glu1720Lys) c.3931G>A (p.Glu1311Lys) c.5272G>A (p.Glu1758Lys) c.5260G>A (p.Glu1754Lys) c.5224G>A (p.Glu1742Lys) c.5212G>A (p.Glu1738Lys) c.5185G>A (p.Glu1729Lys) c.4018G>A (p.Glu1340Lys) c.4006G>A (p.Glu1336Lys) c.3970G>A (p.Glu1324Lys) c.3991G>A (p.Glu1331Lys) c.2911G>A (p.Glu971Lys) c.5257G>A (p.Glu1753Lys) c.5230G>A (p.Glu1744Lys) c.5209G>A (p.Glu1737Lys) c.5197G>A (p.Glu1733Lys) c.4531G>A (p.Glu1511Lys) c.4003G>A (p.Glu1335Lys) c.5218G>A (p.Glu1740Lys) | |
19 | g.5210757C>A | CA505177070 | PTPRS | n.593G>T n.418G>T c.5283G>T (p.Thr1761=) c.3942G>T (p.Thr1314=) c.5169G>T (p.Thr1723=) c.3954G>T (p.Thr1318=) n.4224G>T c.5244G>T (p.Thr1748=) c.5157G>T (p.Thr1719=) c.3930G>T (p.Thr1310=) c.5271G>T (p.Thr1757=) c.5259G>T (p.Thr1753=) c.5223G>T (p.Thr1741=) c.5211G>T (p.Thr1737=) c.5184G>T (p.Thr1728=) c.4017G>T (p.Thr1339=) c.4005G>T (p.Thr1335=) c.3969G>T (p.Thr1323=) c.3990G>T (p.Thr1330=) c.2910G>T (p.Thr970=) c.5256G>T (p.Thr1752=) c.5229G>T (p.Thr1743=) c.5208G>T (p.Thr1736=) c.5196G>T (p.Thr1732=) c.4530G>T (p.Thr1510=) c.4002G>T (p.Thr1334=) c.5217G>T (p.Thr1739=) | dbSNP |
19 | g.5210757C= | CA2319812215 | PTPRS | n.593G= n.418G= c.5283G= (p.Thr1761=) c.3942G= (p.Thr1314=) c.5169G= (p.Thr1723=) c.3954G= (p.Thr1318=) n.4224G= c.5244G= (p.Thr1748=) c.5157G= (p.Thr1719=) c.3930G= (p.Thr1310=) c.5271G= (p.Thr1757=) c.5259G= (p.Thr1753=) c.5223G= (p.Thr1741=) c.5211G= (p.Thr1737=) c.5184G= (p.Thr1728=) c.4017G= (p.Thr1339=) c.4005G= (p.Thr1335=) c.3969G= (p.Thr1323=) c.3990G= (p.Thr1330=) c.2910G= (p.Thr970=) c.5256G= (p.Thr1752=) c.5229G= (p.Thr1743=) c.5208G= (p.Thr1736=) c.5196G= (p.Thr1732=) c.4530G= (p.Thr1510=) c.4002G= (p.Thr1334=) c.5217G= (p.Thr1739=) | |
19 | g.5210757C>G | CA505177071 | PTPRS | n.593G>C n.418G>C c.5283G>C (p.Thr1761=) c.3942G>C (p.Thr1314=) c.5169G>C (p.Thr1723=) c.3954G>C (p.Thr1318=) n.4224G>C c.5244G>C (p.Thr1748=) c.5157G>C (p.Thr1719=) c.3930G>C (p.Thr1310=) c.5271G>C (p.Thr1757=) c.5259G>C (p.Thr1753=) c.5223G>C (p.Thr1741=) c.5211G>C (p.Thr1737=) c.5184G>C (p.Thr1728=) c.4017G>C (p.Thr1339=) c.4005G>C (p.Thr1335=) c.3969G>C (p.Thr1323=) c.3990G>C (p.Thr1330=) c.2910G>C (p.Thr970=) c.5256G>C (p.Thr1752=) c.5229G>C (p.Thr1743=) c.5208G>C (p.Thr1736=) c.5196G>C (p.Thr1732=) c.4530G>C (p.Thr1510=) c.4002G>C (p.Thr1334=) c.5217G>C (p.Thr1739=) | gnomAD v4 |
19 | g.5210757C>T | CA9108781 | PTPRS | n.593G>A n.418G>A c.5283G>A (p.Thr1761=) c.3942G>A (p.Thr1314=) c.5169G>A (p.Thr1723=) c.3954G>A (p.Thr1318=) n.4224G>A c.5244G>A (p.Thr1748=) c.5157G>A (p.Thr1719=) c.3930G>A (p.Thr1310=) c.5271G>A (p.Thr1757=) c.5259G>A (p.Thr1753=) c.5223G>A (p.Thr1741=) c.5211G>A (p.Thr1737=) c.5184G>A (p.Thr1728=) c.4017G>A (p.Thr1339=) c.4005G>A (p.Thr1335=) c.3969G>A (p.Thr1323=) c.3990G>A (p.Thr1330=) c.2910G>A (p.Thr970=) c.5256G>A (p.Thr1752=) c.5229G>A (p.Thr1743=) c.5208G>A (p.Thr1736=) c.5196G>A (p.Thr1732=) c.4530G>A (p.Thr1510=) c.4002G>A (p.Thr1334=) c.5217G>A (p.Thr1739=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.5210758G>A | CA9108782 | PTPRS | n.592C>T n.417C>T c.5282C>T (p.Thr1761Met) c.3941C>T (p.Thr1314Met) c.5168C>T (p.Thr1723Met) c.3953C>T (p.Thr1318Met) n.4223C>T c.5243C>T (p.Thr1748Met) c.5156C>T (p.Thr1719Met) c.3929C>T (p.Thr1310Met) c.5270C>T (p.Thr1757Met) c.5258C>T (p.Thr1753Met) c.5222C>T (p.Thr1741Met) c.5210C>T (p.Thr1737Met) c.5183C>T (p.Thr1728Met) c.4016C>T (p.Thr1339Met) c.4004C>T (p.Thr1335Met) c.3968C>T (p.Thr1323Met) c.3989C>T (p.Thr1330Met) c.2909C>T (p.Thr970Met) c.5255C>T (p.Thr1752Met) c.5228C>T (p.Thr1743Met) c.5207C>T (p.Thr1736Met) c.5195C>T (p.Thr1732Met) c.4529C>T (p.Thr1510Met) c.4001C>T (p.Thr1334Met) c.5216C>T (p.Thr1739Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.5210758G>C | CA403502157 | PTPRS | n.592C>G n.417C>G c.5282C>G (p.Thr1761Arg) c.3941C>G (p.Thr1314Arg) c.5168C>G (p.Thr1723Arg) c.3953C>G (p.Thr1318Arg) n.4223C>G c.5243C>G (p.Thr1748Arg) c.5156C>G (p.Thr1719Arg) c.3929C>G (p.Thr1310Arg) c.5270C>G (p.Thr1757Arg) c.5258C>G (p.Thr1753Arg) c.5222C>G (p.Thr1741Arg) c.5210C>G (p.Thr1737Arg) c.5183C>G (p.Thr1728Arg) c.4016C>G (p.Thr1339Arg) c.4004C>G (p.Thr1335Arg) c.3968C>G (p.Thr1323Arg) c.3989C>G (p.Thr1330Arg) c.2909C>G (p.Thr970Arg) c.5255C>G (p.Thr1752Arg) c.5228C>G (p.Thr1743Arg) c.5207C>G (p.Thr1736Arg) c.5195C>G (p.Thr1732Arg) c.4529C>G (p.Thr1510Arg) c.4001C>G (p.Thr1334Arg) c.5216C>G (p.Thr1739Arg) | |
19 | g.5210758G= | CA2319812216 | PTPRS | n.592C= n.417C= c.5282C= (p.Thr1761=) c.3941C= (p.Thr1314=) c.5168C= (p.Thr1723=) c.3953C= (p.Thr1318=) n.4223C= c.5243C= (p.Thr1748=) c.5156C= (p.Thr1719=) c.3929C= (p.Thr1310=) c.5270C= (p.Thr1757=) c.5258C= (p.Thr1753=) c.5222C= (p.Thr1741=) c.5210C= (p.Thr1737=) c.5183C= (p.Thr1728=) c.4016C= (p.Thr1339=) c.4004C= (p.Thr1335=) c.3968C= (p.Thr1323=) c.3989C= (p.Thr1330=) c.2909C= (p.Thr970=) c.5255C= (p.Thr1752=) c.5228C= (p.Thr1743=) c.5207C= (p.Thr1736=) c.5195C= (p.Thr1732=) c.4529C= (p.Thr1510=) c.4001C= (p.Thr1334=) c.5216C= (p.Thr1739=) | |
19 | g.5210758G>T | CA403502156 | PTPRS | n.592C>A n.417C>A c.5282C>A (p.Thr1761Lys) c.3941C>A (p.Thr1314Lys) c.5168C>A (p.Thr1723Lys) c.3953C>A (p.Thr1318Lys) n.4223C>A c.5243C>A (p.Thr1748Lys) c.5156C>A (p.Thr1719Lys) c.3929C>A (p.Thr1310Lys) c.5270C>A (p.Thr1757Lys) c.5258C>A (p.Thr1753Lys) c.5222C>A (p.Thr1741Lys) c.5210C>A (p.Thr1737Lys) c.5183C>A (p.Thr1728Lys) c.4016C>A (p.Thr1339Lys) c.4004C>A (p.Thr1335Lys) c.3968C>A (p.Thr1323Lys) c.3989C>A (p.Thr1330Lys) c.2909C>A (p.Thr970Lys) c.5255C>A (p.Thr1752Lys) c.5228C>A (p.Thr1743Lys) c.5207C>A (p.Thr1736Lys) c.5195C>A (p.Thr1732Lys) c.4529C>A (p.Thr1510Lys) c.4001C>A (p.Thr1334Lys) c.5216C>A (p.Thr1739Lys) | |
19 | g.5210759T>A | CA403502158 | PTPRS | n.591A>T n.416A>T c.5281A>T (p.Thr1761Ser) c.3940A>T (p.Thr1314Ser) c.5167A>T (p.Thr1723Ser) c.3952A>T (p.Thr1318Ser) n.4222A>T c.5242A>T (p.Thr1748Ser) c.5155A>T (p.Thr1719Ser) c.3928A>T (p.Thr1310Ser) c.5269A>T (p.Thr1757Ser) c.5257A>T (p.Thr1753Ser) c.5221A>T (p.Thr1741Ser) c.5209A>T (p.Thr1737Ser) c.5182A>T (p.Thr1728Ser) c.4015A>T (p.Thr1339Ser) c.4003A>T (p.Thr1335Ser) c.3967A>T (p.Thr1323Ser) c.3988A>T (p.Thr1330Ser) c.2908A>T (p.Thr970Ser) c.5254A>T (p.Thr1752Ser) c.5227A>T (p.Thr1743Ser) c.5206A>T (p.Thr1736Ser) c.5194A>T (p.Thr1732Ser) c.4528A>T (p.Thr1510Ser) c.4000A>T (p.Thr1334Ser) c.5215A>T (p.Thr1739Ser) | |
19 | g.5210759T>C | CA9108783 | PTPRS | n.591A>G n.416A>G c.5281A>G (p.Thr1761Ala) c.3940A>G (p.Thr1314Ala) c.5167A>G (p.Thr1723Ala) c.3952A>G (p.Thr1318Ala) n.4222A>G c.5242A>G (p.Thr1748Ala) c.5155A>G (p.Thr1719Ala) c.3928A>G (p.Thr1310Ala) c.5269A>G (p.Thr1757Ala) c.5257A>G (p.Thr1753Ala) c.5221A>G (p.Thr1741Ala) c.5209A>G (p.Thr1737Ala) c.5182A>G (p.Thr1728Ala) c.4015A>G (p.Thr1339Ala) c.4003A>G (p.Thr1335Ala) c.3967A>G (p.Thr1323Ala) c.3988A>G (p.Thr1330Ala) c.2908A>G (p.Thr970Ala) c.5254A>G (p.Thr1752Ala) c.5227A>G (p.Thr1743Ala) c.5206A>G (p.Thr1736Ala) c.5194A>G (p.Thr1732Ala) c.4528A>G (p.Thr1510Ala) c.4000A>G (p.Thr1334Ala) c.5215A>G (p.Thr1739Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.5210759T>G | CA403502160 | PTPRS | n.591A>C n.416A>C c.5281A>C (p.Thr1761Pro) c.3940A>C (p.Thr1314Pro) c.5167A>C (p.Thr1723Pro) c.3952A>C (p.Thr1318Pro) n.4222A>C c.5242A>C (p.Thr1748Pro) c.5155A>C (p.Thr1719Pro) c.3928A>C (p.Thr1310Pro) c.5269A>C (p.Thr1757Pro) c.5257A>C (p.Thr1753Pro) c.5221A>C (p.Thr1741Pro) c.5209A>C (p.Thr1737Pro) c.5182A>C (p.Thr1728Pro) c.4015A>C (p.Thr1339Pro) c.4003A>C (p.Thr1335Pro) c.3967A>C (p.Thr1323Pro) c.3988A>C (p.Thr1330Pro) c.2908A>C (p.Thr970Pro) c.5254A>C (p.Thr1752Pro) c.5227A>C (p.Thr1743Pro) c.5206A>C (p.Thr1736Pro) c.5194A>C (p.Thr1732Pro) c.4528A>C (p.Thr1510Pro) c.4000A>C (p.Thr1334Pro) c.5215A>C (p.Thr1739Pro) | |
19 | g.5210759T= | CA2319812217 | PTPRS | n.591A= n.416A= c.5281A= (p.Thr1761=) c.3940A= (p.Thr1314=) c.5167A= (p.Thr1723=) c.3952A= (p.Thr1318=) n.4222A= c.5242A= (p.Thr1748=) c.5155A= (p.Thr1719=) c.3928A= (p.Thr1310=) c.5269A= (p.Thr1757=) c.5257A= (p.Thr1753=) c.5221A= (p.Thr1741=) c.5209A= (p.Thr1737=) c.5182A= (p.Thr1728=) c.4015A= (p.Thr1339=) c.4003A= (p.Thr1335=) c.3967A= (p.Thr1323=) c.3988A= (p.Thr1330=) c.2908A= (p.Thr970=) c.5254A= (p.Thr1752=) c.5227A= (p.Thr1743=) c.5206A= (p.Thr1736=) c.5194A= (p.Thr1732=) c.4528A= (p.Thr1510=) c.4000A= (p.Thr1334=) c.5215A= (p.Thr1739=) | |
19 | g.5210760G>A | CA505177072 | PTPRS | n.590C>T n.415C>T c.5280C>T (p.Thr1760=) c.3939C>T (p.Thr1313=) c.5166C>T (p.Thr1722=) c.3951C>T (p.Thr1317=) n.4221C>T c.5241C>T (p.Thr1747=) c.5154C>T (p.Thr1718=) c.3927C>T (p.Thr1309=) c.5268C>T (p.Thr1756=) c.5256C>T (p.Thr1752=) c.5220C>T (p.Thr1740=) c.5208C>T (p.Thr1736=) c.5181C>T (p.Thr1727=) c.4014C>T (p.Thr1338=) c.4002C>T (p.Thr1334=) c.3966C>T (p.Thr1322=) c.3987C>T (p.Thr1329=) c.2907C>T (p.Thr969=) c.5253C>T (p.Thr1751=) c.5226C>T (p.Thr1742=) c.5205C>T (p.Thr1735=) c.5193C>T (p.Thr1731=) c.4527C>T (p.Thr1509=) c.3999C>T (p.Thr1333=) c.5214C>T (p.Thr1738=) | |
19 | g.5210760G>C | CA505177073 | PTPRS | n.590C>G n.415C>G c.5280C>G (p.Thr1760=) c.3939C>G (p.Thr1313=) c.5166C>G (p.Thr1722=) c.3951C>G (p.Thr1317=) n.4221C>G c.5241C>G (p.Thr1747=) c.5154C>G (p.Thr1718=) c.3927C>G (p.Thr1309=) c.5268C>G (p.Thr1756=) c.5256C>G (p.Thr1752=) c.5220C>G (p.Thr1740=) c.5208C>G (p.Thr1736=) c.5181C>G (p.Thr1727=) c.4014C>G (p.Thr1338=) c.4002C>G (p.Thr1334=) c.3966C>G (p.Thr1322=) c.3987C>G (p.Thr1329=) c.2907C>G (p.Thr969=) c.5253C>G (p.Thr1751=) c.5226C>G (p.Thr1742=) c.5205C>G (p.Thr1735=) c.5193C>G (p.Thr1731=) c.4527C>G (p.Thr1509=) c.3999C>G (p.Thr1333=) c.5214C>G (p.Thr1738=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.5210760G= | CA2319812218 | PTPRS | n.590C= n.415C= c.5280C= (p.Thr1760=) c.3939C= (p.Thr1313=) c.5166C= (p.Thr1722=) c.3951C= (p.Thr1317=) n.4221C= c.5241C= (p.Thr1747=) c.5154C= (p.Thr1718=) c.3927C= (p.Thr1309=) c.5268C= (p.Thr1756=) c.5256C= (p.Thr1752=) c.5220C= (p.Thr1740=) c.5208C= (p.Thr1736=) c.5181C= (p.Thr1727=) c.4014C= (p.Thr1338=) c.4002C= (p.Thr1334=) c.3966C= (p.Thr1322=) c.3987C= (p.Thr1329=) c.2907C= (p.Thr969=) c.5253C= (p.Thr1751=) c.5226C= (p.Thr1742=) c.5205C= (p.Thr1735=) c.5193C= (p.Thr1731=) c.4527C= (p.Thr1509=) c.3999C= (p.Thr1333=) c.5214C= (p.Thr1738=) | |
19 | g.5210760G>T | CA505177074 | PTPRS | n.590C>A n.415C>A c.5280C>A (p.Thr1760=) c.3939C>A (p.Thr1313=) c.5166C>A (p.Thr1722=) c.3951C>A (p.Thr1317=) n.4221C>A c.5241C>A (p.Thr1747=) c.5154C>A (p.Thr1718=) c.3927C>A (p.Thr1309=) c.5268C>A (p.Thr1756=) c.5256C>A (p.Thr1752=) c.5220C>A (p.Thr1740=) c.5208C>A (p.Thr1736=) c.5181C>A (p.Thr1727=) c.4014C>A (p.Thr1338=) c.4002C>A (p.Thr1334=) c.3966C>A (p.Thr1322=) c.3987C>A (p.Thr1329=) c.2907C>A (p.Thr969=) c.5253C>A (p.Thr1751=) c.5226C>A (p.Thr1742=) c.5205C>A (p.Thr1735=) c.5193C>A (p.Thr1731=) c.4527C>A (p.Thr1509=) c.3999C>A (p.Thr1333=) c.5214C>A (p.Thr1738=) | |
19 | g.5210761G>A | CA403502161 | PTPRS | n.589C>T n.414C>T c.5279C>T (p.Thr1760Ile) c.3938C>T (p.Thr1313Ile) c.5165C>T (p.Thr1722Ile) c.3950C>T (p.Thr1317Ile) n.4220C>T c.5240C>T (p.Thr1747Ile) c.5153C>T (p.Thr1718Ile) c.3926C>T (p.Thr1309Ile) c.5267C>T (p.Thr1756Ile) c.5255C>T (p.Thr1752Ile) c.5219C>T (p.Thr1740Ile) c.5207C>T (p.Thr1736Ile) c.5180C>T (p.Thr1727Ile) c.4013C>T (p.Thr1338Ile) c.4001C>T (p.Thr1334Ile) c.3965C>T (p.Thr1322Ile) c.3986C>T (p.Thr1329Ile) c.2906C>T (p.Thr969Ile) c.5252C>T (p.Thr1751Ile) c.5225C>T (p.Thr1742Ile) c.5204C>T (p.Thr1735Ile) c.5192C>T (p.Thr1731Ile) c.4526C>T (p.Thr1509Ile) c.3998C>T (p.Thr1333Ile) c.5213C>T (p.Thr1738Ile) | |
19 | g.5210761G>C | CA403502162 | PTPRS | n.589C>G n.414C>G c.5279C>G (p.Thr1760Ser) c.3938C>G (p.Thr1313Ser) c.5165C>G (p.Thr1722Ser) c.3950C>G (p.Thr1317Ser) n.4220C>G c.5240C>G (p.Thr1747Ser) c.5153C>G (p.Thr1718Ser) c.3926C>G (p.Thr1309Ser) c.5267C>G (p.Thr1756Ser) c.5255C>G (p.Thr1752Ser) c.5219C>G (p.Thr1740Ser) c.5207C>G (p.Thr1736Ser) c.5180C>G (p.Thr1727Ser) c.4013C>G (p.Thr1338Ser) c.4001C>G (p.Thr1334Ser) c.3965C>G (p.Thr1322Ser) c.3986C>G (p.Thr1329Ser) c.2906C>G (p.Thr969Ser) c.5252C>G (p.Thr1751Ser) c.5225C>G (p.Thr1742Ser) c.5204C>G (p.Thr1735Ser) c.5192C>G (p.Thr1731Ser) c.4526C>G (p.Thr1509Ser) c.3998C>G (p.Thr1333Ser) c.5213C>G (p.Thr1738Ser) | |
19 | g.5210761G>T | CA403502163 | PTPRS | n.589C>A n.414C>A c.5279C>A (p.Thr1760Asn) c.3938C>A (p.Thr1313Asn) c.5165C>A (p.Thr1722Asn) c.3950C>A (p.Thr1317Asn) n.4220C>A c.5240C>A (p.Thr1747Asn) c.5153C>A (p.Thr1718Asn) c.3926C>A (p.Thr1309Asn) c.5267C>A (p.Thr1756Asn) c.5255C>A (p.Thr1752Asn) c.5219C>A (p.Thr1740Asn) c.5207C>A (p.Thr1736Asn) c.5180C>A (p.Thr1727Asn) c.4013C>A (p.Thr1338Asn) c.4001C>A (p.Thr1334Asn) c.3965C>A (p.Thr1322Asn) c.3986C>A (p.Thr1329Asn) c.2906C>A (p.Thr969Asn) c.5252C>A (p.Thr1751Asn) c.5225C>A (p.Thr1742Asn) c.5204C>A (p.Thr1735Asn) c.5192C>A (p.Thr1731Asn) c.4526C>A (p.Thr1509Asn) c.3998C>A (p.Thr1333Asn) c.5213C>A (p.Thr1738Asn) | gnomAD v4 |
19 | g.5210762T>A | CA403502166 | PTPRS | n.588A>T n.413A>T c.5278A>T (p.Thr1760Ser) c.3937A>T (p.Thr1313Ser) c.5164A>T (p.Thr1722Ser) c.3949A>T (p.Thr1317Ser) n.4219A>T c.5239A>T (p.Thr1747Ser) c.5152A>T (p.Thr1718Ser) c.3925A>T (p.Thr1309Ser) c.5266A>T (p.Thr1756Ser) c.5254A>T (p.Thr1752Ser) c.5218A>T (p.Thr1740Ser) c.5206A>T (p.Thr1736Ser) c.5179A>T (p.Thr1727Ser) c.4012A>T (p.Thr1338Ser) c.4000A>T (p.Thr1334Ser) c.3964A>T (p.Thr1322Ser) c.3985A>T (p.Thr1329Ser) c.2905A>T (p.Thr969Ser) c.5251A>T (p.Thr1751Ser) c.5224A>T (p.Thr1742Ser) c.5203A>T (p.Thr1735Ser) c.5191A>T (p.Thr1731Ser) c.4525A>T (p.Thr1509Ser) c.3997A>T (p.Thr1333Ser) c.5212A>T (p.Thr1738Ser) | |
19 | g.5210762T>C | CA403502164 | PTPRS | n.588A>G n.413A>G c.5278A>G (p.Thr1760Ala) c.3937A>G (p.Thr1313Ala) c.5164A>G (p.Thr1722Ala) c.3949A>G (p.Thr1317Ala) n.4219A>G c.5239A>G (p.Thr1747Ala) c.5152A>G (p.Thr1718Ala) c.3925A>G (p.Thr1309Ala) c.5266A>G (p.Thr1756Ala) c.5254A>G (p.Thr1752Ala) c.5218A>G (p.Thr1740Ala) c.5206A>G (p.Thr1736Ala) c.5179A>G (p.Thr1727Ala) c.4012A>G (p.Thr1338Ala) c.4000A>G (p.Thr1334Ala) c.3964A>G (p.Thr1322Ala) c.3985A>G (p.Thr1329Ala) c.2905A>G (p.Thr969Ala) c.5251A>G (p.Thr1751Ala) c.5224A>G (p.Thr1742Ala) c.5203A>G (p.Thr1735Ala) c.5191A>G (p.Thr1731Ala) c.4525A>G (p.Thr1509Ala) c.3997A>G (p.Thr1333Ala) c.5212A>G (p.Thr1738Ala) | ClinVar dbSNP |
19 | g.5210762T>G | CA403502165 | PTPRS | n.588A>C n.413A>C c.5278A>C (p.Thr1760Pro) c.3937A>C (p.Thr1313Pro) c.5164A>C (p.Thr1722Pro) c.3949A>C (p.Thr1317Pro) n.4219A>C c.5239A>C (p.Thr1747Pro) c.5152A>C (p.Thr1718Pro) c.3925A>C (p.Thr1309Pro) c.5266A>C (p.Thr1756Pro) c.5254A>C (p.Thr1752Pro) c.5218A>C (p.Thr1740Pro) c.5206A>C (p.Thr1736Pro) c.5179A>C (p.Thr1727Pro) c.4012A>C (p.Thr1338Pro) c.4000A>C (p.Thr1334Pro) c.3964A>C (p.Thr1322Pro) c.3985A>C (p.Thr1329Pro) c.2905A>C (p.Thr969Pro) c.5251A>C (p.Thr1751Pro) c.5224A>C (p.Thr1742Pro) c.5203A>C (p.Thr1735Pro) c.5191A>C (p.Thr1731Pro) c.4525A>C (p.Thr1509Pro) c.3997A>C (p.Thr1333Pro) c.5212A>C (p.Thr1738Pro) | |
19 | g.5210762T= | CA2319812219 | PTPRS | n.588A= n.413A= c.5278A= (p.Thr1760=) c.3937A= (p.Thr1313=) c.5164A= (p.Thr1722=) c.3949A= (p.Thr1317=) n.4219A= c.5239A= (p.Thr1747=) c.5152A= (p.Thr1718=) c.3925A= (p.Thr1309=) c.5266A= (p.Thr1756=) c.5254A= (p.Thr1752=) c.5218A= (p.Thr1740=) c.5206A= (p.Thr1736=) c.5179A= (p.Thr1727=) c.4012A= (p.Thr1338=) c.4000A= (p.Thr1334=) c.3964A= (p.Thr1322=) c.3985A= (p.Thr1329=) c.2905A= (p.Thr969=) c.5251A= (p.Thr1751=) c.5224A= (p.Thr1742=) c.5203A= (p.Thr1735=) c.5191A= (p.Thr1731=) c.4525A= (p.Thr1509=) c.3997A= (p.Thr1333=) c.5212A= (p.Thr1738=) | |
19 | g.5210763C>A | CA403502167 | PTPRS | n.587G>T n.412G>T c.5277G>T (p.Glu1759Asp) c.3936G>T (p.Glu1312Asp) c.5163G>T (p.Glu1721Asp) c.3948G>T (p.Glu1316Asp) n.4218G>T c.5238G>T (p.Glu1746Asp) c.5151G>T (p.Glu1717Asp) c.3924G>T (p.Glu1308Asp) c.5265G>T (p.Glu1755Asp) c.5253G>T (p.Glu1751Asp) c.5217G>T (p.Glu1739Asp) c.5205G>T (p.Glu1735Asp) c.5178G>T (p.Glu1726Asp) c.4011G>T (p.Glu1337Asp) c.3999G>T (p.Glu1333Asp) c.3963G>T (p.Glu1321Asp) c.3984G>T (p.Glu1328Asp) c.2904G>T (p.Glu968Asp) c.5250G>T (p.Glu1750Asp) c.5223G>T (p.Glu1741Asp) c.5202G>T (p.Glu1734Asp) c.5190G>T (p.Glu1730Asp) c.4524G>T (p.Glu1508Asp) c.3996G>T (p.Glu1332Asp) c.5211G>T (p.Glu1737Asp) | |
19 | g.5210763C= | CA2319812220 | PTPRS | n.587G= n.412G= c.5277G= (p.Glu1759=) c.3936G= (p.Glu1312=) c.5163G= (p.Glu1721=) c.3948G= (p.Glu1316=) n.4218G= c.5238G= (p.Glu1746=) c.5151G= (p.Glu1717=) c.3924G= (p.Glu1308=) c.5265G= (p.Glu1755=) c.5253G= (p.Glu1751=) c.5217G= (p.Glu1739=) c.5205G= (p.Glu1735=) c.5178G= (p.Glu1726=) c.4011G= (p.Glu1337=) c.3999G= (p.Glu1333=) c.3963G= (p.Glu1321=) c.3984G= (p.Glu1328=) c.2904G= (p.Glu968=) c.5250G= (p.Glu1750=) c.5223G= (p.Glu1741=) c.5202G= (p.Glu1734=) c.5190G= (p.Glu1730=) c.4524G= (p.Glu1508=) c.3996G= (p.Glu1332=) c.5211G= (p.Glu1737=) | |
19 | g.5210763C>G | CA9108784 | PTPRS | n.587G>C n.412G>C c.5277G>C (p.Glu1759Asp) c.3936G>C (p.Glu1312Asp) c.5163G>C (p.Glu1721Asp) c.3948G>C (p.Glu1316Asp) n.4218G>C c.5238G>C (p.Glu1746Asp) c.5151G>C (p.Glu1717Asp) c.3924G>C (p.Glu1308Asp) c.5265G>C (p.Glu1755Asp) c.5253G>C (p.Glu1751Asp) c.5217G>C (p.Glu1739Asp) c.5205G>C (p.Glu1735Asp) c.5178G>C (p.Glu1726Asp) c.4011G>C (p.Glu1337Asp) c.3999G>C (p.Glu1333Asp) c.3963G>C (p.Glu1321Asp) c.3984G>C (p.Glu1328Asp) c.2904G>C (p.Glu968Asp) c.5250G>C (p.Glu1750Asp) c.5223G>C (p.Glu1741Asp) c.5202G>C (p.Glu1734Asp) c.5190G>C (p.Glu1730Asp) c.4524G>C (p.Glu1508Asp) c.3996G>C (p.Glu1332Asp) c.5211G>C (p.Glu1737Asp) | dbSNP ExAC |
19 | g.5210763C>T | CA505177075 | PTPRS | n.587G>A n.412G>A c.5277G>A (p.Glu1759=) c.3936G>A (p.Glu1312=) c.5163G>A (p.Glu1721=) c.3948G>A (p.Glu1316=) n.4218G>A c.5238G>A (p.Glu1746=) c.5151G>A (p.Glu1717=) c.3924G>A (p.Glu1308=) c.5265G>A (p.Glu1755=) c.5253G>A (p.Glu1751=) c.5217G>A (p.Glu1739=) c.5205G>A (p.Glu1735=) c.5178G>A (p.Glu1726=) c.4011G>A (p.Glu1337=) c.3999G>A (p.Glu1333=) c.3963G>A (p.Glu1321=) c.3984G>A (p.Glu1328=) c.2904G>A (p.Glu968=) c.5250G>A (p.Glu1750=) c.5223G>A (p.Glu1741=) c.5202G>A (p.Glu1734=) c.5190G>A (p.Glu1730=) c.4524G>A (p.Glu1508=) c.3996G>A (p.Glu1332=) c.5211G>A (p.Glu1737=) | gnomAD v4 |
19 | g.5210764T>A | CA403502168 | PTPRS | n.586A>T n.411A>T c.5276A>T (p.Glu1759Val) c.3935A>T (p.Glu1312Val) c.5162A>T (p.Glu1721Val) c.3947A>T (p.Glu1316Val) n.4217A>T c.5237A>T (p.Glu1746Val) c.5150A>T (p.Glu1717Val) c.3923A>T (p.Glu1308Val) c.5264A>T (p.Glu1755Val) c.5252A>T (p.Glu1751Val) c.5216A>T (p.Glu1739Val) c.5204A>T (p.Glu1735Val) c.5177A>T (p.Glu1726Val) c.4010A>T (p.Glu1337Val) c.3998A>T (p.Glu1333Val) c.3962A>T (p.Glu1321Val) c.3983A>T (p.Glu1328Val) c.2903A>T (p.Glu968Val) c.5249A>T (p.Glu1750Val) c.5222A>T (p.Glu1741Val) c.5201A>T (p.Glu1734Val) c.5189A>T (p.Glu1730Val) c.4523A>T (p.Glu1508Val) c.3995A>T (p.Glu1332Val) c.5210A>T (p.Glu1737Val) | |
19 | g.5210764T>C | CA403502169 | PTPRS | n.586A>G n.411A>G c.5276A>G (p.Glu1759Gly) c.3935A>G (p.Glu1312Gly) c.5162A>G (p.Glu1721Gly) c.3947A>G (p.Glu1316Gly) n.4217A>G c.5237A>G (p.Glu1746Gly) c.5150A>G (p.Glu1717Gly) c.3923A>G (p.Glu1308Gly) c.5264A>G (p.Glu1755Gly) c.5252A>G (p.Glu1751Gly) c.5216A>G (p.Glu1739Gly) c.5204A>G (p.Glu1735Gly) c.5177A>G (p.Glu1726Gly) c.4010A>G (p.Glu1337Gly) c.3998A>G (p.Glu1333Gly) c.3962A>G (p.Glu1321Gly) c.3983A>G (p.Glu1328Gly) c.2903A>G (p.Glu968Gly) c.5249A>G (p.Glu1750Gly) c.5222A>G (p.Glu1741Gly) c.5201A>G (p.Glu1734Gly) c.5189A>G (p.Glu1730Gly) c.4523A>G (p.Glu1508Gly) c.3995A>G (p.Glu1332Gly) c.5210A>G (p.Glu1737Gly) | |
19 | g.5210764T>G | CA403502170 | PTPRS | n.586A>C n.411A>C c.5276A>C (p.Glu1759Ala) c.3935A>C (p.Glu1312Ala) c.5162A>C (p.Glu1721Ala) c.3947A>C (p.Glu1316Ala) n.4217A>C c.5237A>C (p.Glu1746Ala) c.5150A>C (p.Glu1717Ala) c.3923A>C (p.Glu1308Ala) c.5264A>C (p.Glu1755Ala) c.5252A>C (p.Glu1751Ala) c.5216A>C (p.Glu1739Ala) c.5204A>C (p.Glu1735Ala) c.5177A>C (p.Glu1726Ala) c.4010A>C (p.Glu1337Ala) c.3998A>C (p.Glu1333Ala) c.3962A>C (p.Glu1321Ala) c.3983A>C (p.Glu1328Ala) c.2903A>C (p.Glu968Ala) c.5249A>C (p.Glu1750Ala) c.5222A>C (p.Glu1741Ala) c.5201A>C (p.Glu1734Ala) c.5189A>C (p.Glu1730Ala) c.4523A>C (p.Glu1508Ala) c.3995A>C (p.Glu1332Ala) c.5210A>C (p.Glu1737Ala) | |
19 | g.5210765C>A | CA403502171 | PTPRS | n.585G>T n.410G>T c.5275G>T (p.Glu1759Ter) c.3934G>T (p.Glu1312Ter) c.5161G>T (p.Glu1721Ter) c.3946G>T (p.Glu1316Ter) n.4216G>T c.5236G>T (p.Glu1746Ter) c.5149G>T (p.Glu1717Ter) c.3922G>T (p.Glu1308Ter) c.5263G>T (p.Glu1755Ter) c.5251G>T (p.Glu1751Ter) c.5215G>T (p.Glu1739Ter) c.5203G>T (p.Glu1735Ter) c.5176G>T (p.Glu1726Ter) c.4009G>T (p.Glu1337Ter) c.3997G>T (p.Glu1333Ter) c.3961G>T (p.Glu1321Ter) c.3982G>T (p.Glu1328Ter) c.2902G>T (p.Glu968Ter) c.5248G>T (p.Glu1750Ter) c.5221G>T (p.Glu1741Ter) c.5200G>T (p.Glu1734Ter) c.5188G>T (p.Glu1730Ter) c.4522G>T (p.Glu1508Ter) c.3994G>T (p.Glu1332Ter) c.5209G>T (p.Glu1737Ter) |