Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.123058633dup | CA229966779 | HSPA8 | c.1522+1dup c.1387+136dup (n.1387+136dup) c.295+1dup c.1465+1dup c.178+1dup n.1498dup c.1084+1dup c.814+1dup | dbSNP |
11 | g.123058633del | CA2575011573 | HSPA8 | c.1522+1del c.1387+136del (n.1387+136del) c.295+1del c.1465+1del c.178+1del n.1498del c.1084+1del c.814+1del | |
11 | g.123058633C>A | CA383056985 | HSPA8 | c.1521G>T (p.Lys507Asn) c.1387+134G>T (n.1387+134G>T) c.294G>T (p.Lys98Asn) c.1464G>T (p.Lys488Asn) c.177G>T (p.Lys59Asn) n.1496G>T c.1083G>T (p.Lys361Asn) c.813G>T (p.Lys271Asn) | |
11 | g.123058633C= | CA2005595285 | HSPA8 | c.1521G= (p.Lys507=) c.1387+134G= (n.1387+134G=) c.294G= (p.Lys98=) c.1464G= (p.Lys488=) c.177G= (p.Lys59=) n.1496G= c.1083G= (p.Lys361=) c.813G= (p.Lys271=) | |
11 | g.123058633C>G | CA383056987 | HSPA8 | c.1521G>C (p.Lys507Asn) c.1387+134G>C (n.1387+134G>C) c.294G>C (p.Lys98Asn) c.1464G>C (p.Lys488Asn) c.177G>C (p.Lys59Asn) n.1496G>C c.1083G>C (p.Lys361Asn) c.813G>C (p.Lys271Asn) | |
11 | g.123058633C>T | CA6332461 | HSPA8 | c.1521G>A (p.Lys507=) c.1387+134G>A (n.1387+134G>A) c.294G>A (p.Lys98=) c.1464G>A (p.Lys488=) c.177G>A (p.Lys59=) n.1496G>A c.1083G>A (p.Lys361=) c.813G>A (p.Lys271=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058634T>A | CA383056994 | HSPA8 | c.1520A>T (p.Lys507Met) c.1387+133A>T (n.1387+133A>T) c.293A>T (p.Lys98Met) c.1463A>T (p.Lys488Met) c.176A>T (p.Lys59Met) n.1495A>T c.1082A>T (p.Lys361Met) c.812A>T (p.Lys271Met) | |
11 | g.123058634T>C | CA383056990 | HSPA8 | c.1520A>G (p.Lys507Arg) c.1387+133A>G (n.1387+133A>G) c.293A>G (p.Lys98Arg) c.1463A>G (p.Lys488Arg) c.176A>G (p.Lys59Arg) n.1495A>G c.1082A>G (p.Lys361Arg) c.812A>G (p.Lys271Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123058634T>G | CA383056992 | HSPA8 | c.1520A>C (p.Lys507Thr) c.1387+133A>C (n.1387+133A>C) c.293A>C (p.Lys98Thr) c.1463A>C (p.Lys488Thr) c.176A>C (p.Lys59Thr) n.1495A>C c.1082A>C (p.Lys361Thr) c.812A>C (p.Lys271Thr) | |
11 | g.123058634T= | CA2005595289 | HSPA8 | c.1520A= (p.Lys507=) c.1387+133A= (n.1387+133A=) c.293A= (p.Lys98=) c.1463A= (p.Lys488=) c.176A= (p.Lys59=) n.1495A= c.1082A= (p.Lys361=) c.812A= (p.Lys271=) | |
11 | g.123058635T>A | CA383056995 | HSPA8 | c.1519A>T (p.Lys507Ter) c.1387+132A>T (n.1387+132A>T) c.292A>T (p.Lys98Ter) c.1462A>T (p.Lys488Ter) c.175A>T (p.Lys59Ter) n.1494A>T c.1081A>T (p.Lys361Ter) c.811A>T (p.Lys271Ter) | |
11 | g.123058635T>C | CA383056997 | HSPA8 | c.1519A>G (p.Lys507Glu) c.1387+132A>G (n.1387+132A>G) c.292A>G (p.Lys98Glu) c.1462A>G (p.Lys488Glu) c.175A>G (p.Lys59Glu) n.1494A>G c.1081A>G (p.Lys361Glu) c.811A>G (p.Lys271Glu) | |
11 | g.123058635T>G | CA383056999 | HSPA8 | c.1519A>C (p.Lys507Gln) c.1387+132A>C (n.1387+132A>C) c.292A>C (p.Lys98Gln) c.1462A>C (p.Lys488Gln) c.175A>C (p.Lys59Gln) n.1494A>C c.1081A>C (p.Lys361Gln) c.811A>C (p.Lys271Gln) | |
11 | g.123058636G>A | CA477385282 | HSPA8 | c.1518C>T (p.Asp506=) c.1387+131C>T (n.1387+131C>T) c.291C>T (p.Asp97=) c.1461C>T (p.Asp487=) c.174C>T (p.Asp58=) n.1493C>T c.1080C>T (p.Asp360=) c.810C>T (p.Asp270=) | dbSNP |
11 | g.123058636G>C | CA383057001 | HSPA8 | c.1518C>G (p.Asp506Glu) c.1387+131C>G (n.1387+131C>G) c.291C>G (p.Asp97Glu) c.1461C>G (p.Asp487Glu) c.174C>G (p.Asp58Glu) n.1493C>G c.1080C>G (p.Asp360Glu) c.810C>G (p.Asp270Glu) | |
11 | g.123058636G= | CA2005595290 | HSPA8 | c.1518C= (p.Asp506=) c.1387+131C= (n.1387+131C=) c.291C= (p.Asp97=) c.1461C= (p.Asp487=) c.174C= (p.Asp58=) n.1493C= c.1080C= (p.Asp360=) c.810C= (p.Asp270=) | |
11 | g.123058636G>T | CA383057003 | HSPA8 | c.1518C>A (p.Asp506Glu) c.1387+131C>A (n.1387+131C>A) c.291C>A (p.Asp97Glu) c.1461C>A (p.Asp487Glu) c.174C>A (p.Asp58Glu) n.1493C>A c.1080C>A (p.Asp360Glu) c.810C>A (p.Asp270Glu) | gnomAD v4 |
11 | g.123058637T>A | CA383057005 | HSPA8 | c.1517A>T (p.Asp506Val) c.1387+130A>T (n.1387+130A>T) c.290A>T (p.Asp97Val) c.1460A>T (p.Asp487Val) c.173A>T (p.Asp58Val) n.1492A>T c.1079A>T (p.Asp360Val) c.809A>T (p.Asp270Val) | |
11 | g.123058637T>C | CA383057009 | HSPA8 | c.1517A>G (p.Asp506Gly) c.1387+130A>G (n.1387+130A>G) c.290A>G (p.Asp97Gly) c.1460A>G (p.Asp487Gly) c.173A>G (p.Asp58Gly) n.1492A>G c.1079A>G (p.Asp360Gly) c.809A>G (p.Asp270Gly) | gnomAD v4 |
11 | g.123058637T>G | CA383057007 | HSPA8 | c.1517A>C (p.Asp506Ala) c.1387+130A>C (n.1387+130A>C) c.290A>C (p.Asp97Ala) c.1460A>C (p.Asp487Ala) c.173A>C (p.Asp58Ala) n.1492A>C c.1079A>C (p.Asp360Ala) c.809A>C (p.Asp270Ala) | |
11 | g.123058638C>A | CA383057011 | HSPA8 | c.1516G>T (p.Asp506Tyr) c.1387+129G>T (n.1387+129G>T) c.289G>T (p.Asp97Tyr) c.1459G>T (p.Asp487Tyr) c.172G>T (p.Asp58Tyr) n.1491G>T c.1078G>T (p.Asp360Tyr) c.808G>T (p.Asp270Tyr) | |
11 | g.123058638C>G | CA383057013 | HSPA8 | c.1516G>C (p.Asp506His) c.1387+129G>C (n.1387+129G>C) c.289G>C (p.Asp97His) c.1459G>C (p.Asp487His) c.172G>C (p.Asp58His) n.1491G>C c.1078G>C (p.Asp360His) c.808G>C (p.Asp270His) | |
11 | g.123058638C>T | CA383057015 | HSPA8 | c.1516G>A (p.Asp506Asn) c.1387+129G>A (n.1387+129G>A) c.289G>A (p.Asp97Asn) c.1459G>A (p.Asp487Asn) c.172G>A (p.Asp58Asn) n.1491G>A c.1078G>A (p.Asp360Asn) c.808G>A (p.Asp270Asn) | |
11 | g.123058639A= | CA2005595294 | HSPA8 | c.1515T= (p.Asn505=) c.1387+128T= (n.1387+128T=) c.288T= (p.Asn96=) c.1458T= (p.Asn486=) c.171T= (p.Asn57=) n.1490T= c.1077T= (p.Asn359=) c.807T= (p.Asn269=) | |
11 | g.123058639A>C | CA383057016 | HSPA8 | c.1515T>G (p.Asn505Lys) c.1387+128T>G (n.1387+128T>G) c.288T>G (p.Asn96Lys) c.1458T>G (p.Asn486Lys) c.171T>G (p.Asn57Lys) n.1490T>G c.1077T>G (p.Asn359Lys) c.807T>G (p.Asn269Lys) | |
11 | g.123058639A>G | CA477385283 | HSPA8 | c.1515T>C (p.Asn505=) c.1387+128T>C (n.1387+128T>C) c.288T>C (p.Asn96=) c.1458T>C (p.Asn486=) c.171T>C (p.Asn57=) n.1490T>C c.1077T>C (p.Asn359=) c.807T>C (p.Asn269=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058639A>T | CA383057018 | HSPA8 | c.1515T>A (p.Asn505Lys) c.1387+128T>A (n.1387+128T>A) c.288T>A (p.Asn96Lys) c.1458T>A (p.Asn486Lys) c.171T>A (p.Asn57Lys) n.1490T>A c.1077T>A (p.Asn359Lys) c.807T>A (p.Asn269Lys) | |
11 | g.123058640T>A | CA383057020 | HSPA8 | c.1514A>T (p.Asn505Ile) c.1387+127A>T (n.1387+127A>T) c.287A>T (p.Asn96Ile) c.1457A>T (p.Asn486Ile) c.170A>T (p.Asn57Ile) n.1489A>T c.1076A>T (p.Asn359Ile) c.806A>T (p.Asn269Ile) | |
11 | g.123058640T>C | CA383057021 | HSPA8 | c.1514A>G (p.Asn505Ser) c.1387+127A>G (n.1387+127A>G) c.287A>G (p.Asn96Ser) c.1457A>G (p.Asn486Ser) c.170A>G (p.Asn57Ser) n.1489A>G c.1076A>G (p.Asn359Ser) c.806A>G (p.Asn269Ser) | |
11 | g.123058640T>G | CA383057023 | HSPA8 | c.1514A>C (p.Asn505Thr) c.1387+127A>C (n.1387+127A>C) c.287A>C (p.Asn96Thr) c.1457A>C (p.Asn486Thr) c.170A>C (p.Asn57Thr) n.1489A>C c.1076A>C (p.Asn359Thr) c.806A>C (p.Asn269Thr) | |
11 | g.123058641T>A | CA383057025 | HSPA8 | c.1513A>T (p.Asn505Tyr) c.1387+126A>T (n.1387+126A>T) c.286A>T (p.Asn96Tyr) c.1456A>T (p.Asn486Tyr) c.169A>T (p.Asn57Tyr) n.1488A>T c.1075A>T (p.Asn359Tyr) c.805A>T (p.Asn269Tyr) | |
11 | g.123058641T>C | CA383057027 | HSPA8 | c.1513A>G (p.Asn505Asp) c.1387+126A>G (n.1387+126A>G) c.286A>G (p.Asn96Asp) c.1456A>G (p.Asn486Asp) c.169A>G (p.Asn57Asp) n.1488A>G c.1075A>G (p.Asn359Asp) c.805A>G (p.Asn269Asp) | |
11 | g.123058641T>G | CA383057029 | HSPA8 | c.1513A>C (p.Asn505His) c.1387+126A>C (n.1387+126A>C) c.286A>C (p.Asn96His) c.1456A>C (p.Asn486His) c.169A>C (p.Asn57His) n.1488A>C c.1075A>C (p.Asn359His) c.805A>C (p.Asn269His) | |
11 | g.123058642A= | CA2005595300 | HSPA8 | c.1512T= (p.Thr504=) c.1387+125T= (n.1387+125T=) c.285T= (p.Thr95=) c.1455T= (p.Thr485=) c.168T= (p.Thr56=) n.1487T= c.1074T= (p.Thr358=) c.804T= (p.Thr268=) | |
11 | g.123058642A>C | CA477385284 | HSPA8 | c.1512T>G (p.Thr504=) c.1387+125T>G (n.1387+125T>G) c.285T>G (p.Thr95=) c.1455T>G (p.Thr485=) c.168T>G (p.Thr56=) n.1487T>G c.1074T>G (p.Thr358=) c.804T>G (p.Thr268=) | |
11 | g.123058642A>G | CA477385285 | HSPA8 | c.1512T>C (p.Thr504=) c.1387+125T>C (n.1387+125T>C) c.285T>C (p.Thr95=) c.1455T>C (p.Thr485=) c.168T>C (p.Thr56=) n.1487T>C c.1074T>C (p.Thr358=) c.804T>C (p.Thr268=) | |
11 | g.123058642A>T | CA477385286 | HSPA8 | c.1512T>A (p.Thr504=) c.1387+125T>A (n.1387+125T>A) c.285T>A (p.Thr95=) c.1455T>A (p.Thr485=) c.168T>A (p.Thr56=) n.1487T>A c.1074T>A (p.Thr358=) c.804T>A (p.Thr268=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123058643G>A | CA383057034 | HSPA8 | c.1511C>T (p.Thr504Ile) c.1387+124C>T (n.1387+124C>T) c.284C>T (p.Thr95Ile) c.1454C>T (p.Thr485Ile) c.167C>T (p.Thr56Ile) n.1486C>T c.1073C>T (p.Thr358Ile) c.803C>T (p.Thr268Ile) | |
11 | g.123058643G>C | CA6332462 | HSPA8 | c.1511C>G (p.Thr504Ser) c.1387+124C>G (n.1387+124C>G) c.284C>G (p.Thr95Ser) c.1454C>G (p.Thr485Ser) c.167C>G (p.Thr56Ser) n.1486C>G c.1073C>G (p.Thr358Ser) c.803C>G (p.Thr268Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.123058643G= | CA2005595308 | HSPA8 | c.1511C= (p.Thr504=) c.1387+124C= (n.1387+124C=) c.284C= (p.Thr95=) c.1454C= (p.Thr485=) c.167C= (p.Thr56=) n.1486C= c.1073C= (p.Thr358=) c.803C= (p.Thr268=) | |
11 | g.123058643G>T | CA383057031 | HSPA8 | c.1511C>A (p.Thr504Asn) c.1387+124C>A (n.1387+124C>A) c.284C>A (p.Thr95Asn) c.1454C>A (p.Thr485Asn) c.167C>A (p.Thr56Asn) n.1486C>A c.1073C>A (p.Thr358Asn) c.803C>A (p.Thr268Asn) | |
11 | g.123058644T>A | CA383057036 | HSPA8 | c.1510A>T (p.Thr504Ser) c.1387+123A>T (n.1387+123A>T) c.283A>T (p.Thr95Ser) c.1453A>T (p.Thr485Ser) c.166A>T (p.Thr56Ser) n.1485A>T c.1072A>T (p.Thr358Ser) c.802A>T (p.Thr268Ser) | |
11 | g.123058644T>C | CA383057038 | HSPA8 | c.1510A>G (p.Thr504Ala) c.1387+123A>G (n.1387+123A>G) c.283A>G (p.Thr95Ala) c.1453A>G (p.Thr485Ala) c.166A>G (p.Thr56Ala) n.1485A>G c.1072A>G (p.Thr358Ala) c.802A>G (p.Thr268Ala) | dbSNP gnomAD v4 |
11 | g.123058644T>G | CA383057040 | HSPA8 | c.1510A>C (p.Thr504Pro) c.1387+123A>C (n.1387+123A>C) c.283A>C (p.Thr95Pro) c.1453A>C (p.Thr485Pro) c.166A>C (p.Thr56Pro) n.1485A>C c.1072A>C (p.Thr358Pro) c.802A>C (p.Thr268Pro) | |
11 | g.123058645G>A | CA477385287 | HSPA8 | c.1509C>T (p.Ile503=) c.1387+122C>T (n.1387+122C>T) c.282C>T (p.Ile94=) c.1452C>T (p.Ile484=) c.165C>T (p.Ile55=) n.1484C>T c.1071C>T (p.Ile357=) c.801C>T (p.Ile267=) | |
11 | g.123058645G>C | CA383057042 | HSPA8 | c.1509C>G (p.Ile503Met) c.1387+122C>G (n.1387+122C>G) c.282C>G (p.Ile94Met) c.1452C>G (p.Ile484Met) c.165C>G (p.Ile55Met) n.1484C>G c.1071C>G (p.Ile357Met) c.801C>G (p.Ile267Met) | |
11 | g.123058645G>T | CA477385288 | HSPA8 | c.1509C>A (p.Ile503=) c.1387+122C>A (n.1387+122C>A) c.282C>A (p.Ile94=) c.1452C>A (p.Ile484=) c.165C>A (p.Ile55=) n.1484C>A c.1071C>A (p.Ile357=) c.801C>A (p.Ile267=) | |
11 | g.123058646A>C | CA383057044 | HSPA8 | c.1508T>G (p.Ile503Ser) c.1387+121T>G (n.1387+121T>G) c.281T>G (p.Ile94Ser) c.1451T>G (p.Ile484Ser) c.164T>G (p.Ile55Ser) n.1483T>G c.1070T>G (p.Ile357Ser) c.800T>G (p.Ile267Ser) | |
11 | g.123058646A>G | CA383057046 | HSPA8 | c.1508T>C (p.Ile503Thr) c.1387+121T>C (n.1387+121T>C) c.281T>C (p.Ile94Thr) c.1451T>C (p.Ile484Thr) c.164T>C (p.Ile55Thr) n.1483T>C c.1070T>C (p.Ile357Thr) c.800T>C (p.Ile267Thr) | |
11 | g.123058646A>T | CA383057048 | HSPA8 | c.1508T>A (p.Ile503Asn) c.1387+121T>A (n.1387+121T>A) c.281T>A (p.Ile94Asn) c.1451T>A (p.Ile484Asn) c.164T>A (p.Ile55Asn) n.1483T>A c.1070T>A (p.Ile357Asn) c.800T>A (p.Ile267Asn) | |
11 | g.123058647T>A | CA383057054 | HSPA8 | c.1507A>T (p.Ile503Phe) c.1387+120A>T (n.1387+120A>T) c.280A>T (p.Ile94Phe) c.1450A>T (p.Ile484Phe) c.163A>T (p.Ile55Phe) n.1482A>T c.1069A>T (p.Ile357Phe) c.799A>T (p.Ile267Phe) | |
11 | g.123058647T>C | CA383057050 | HSPA8 | c.1507A>G (p.Ile503Val) c.1387+120A>G (n.1387+120A>G) c.280A>G (p.Ile94Val) c.1450A>G (p.Ile484Val) c.163A>G (p.Ile55Val) n.1482A>G c.1069A>G (p.Ile357Val) c.799A>G (p.Ile267Val) | |
11 | g.123058647T>G | CA383057052 | HSPA8 | c.1507A>C (p.Ile503Leu) c.1387+120A>C (n.1387+120A>C) c.280A>C (p.Ile94Leu) c.1450A>C (p.Ile484Leu) c.163A>C (p.Ile55Leu) n.1482A>C c.1069A>C (p.Ile357Leu) c.799A>C (p.Ile267Leu) | |
11 | g.123058648A= | CA2005595315 | HSPA8 | c.1506T= (p.Thr502=) c.1387+119T= (n.1387+119T=) c.279T= (p.Thr93=) c.1449T= (p.Thr483=) c.162T= (p.Thr54=) n.1481T= c.1068T= (p.Thr356=) c.798T= (p.Thr266=) | |
11 | g.123058648A>C | CA6332464 | HSPA8 | c.1506T>G (p.Thr502=) c.1387+119T>G (n.1387+119T>G) c.279T>G (p.Thr93=) c.1449T>G (p.Thr483=) c.162T>G (p.Thr54=) n.1481T>G c.1068T>G (p.Thr356=) c.798T>G (p.Thr266=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058648A>G | CA6332463 | HSPA8 | c.1506T>C (p.Thr502=) c.1387+119T>C (n.1387+119T>C) c.279T>C (p.Thr93=) c.1449T>C (p.Thr483=) c.162T>C (p.Thr54=) n.1481T>C c.1068T>C (p.Thr356=) c.798T>C (p.Thr266=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058648A>T | CA477385289 | HSPA8 | c.1506T>A (p.Thr502=) c.1387+119T>A (n.1387+119T>A) c.279T>A (p.Thr93=) c.1449T>A (p.Thr483=) c.162T>A (p.Thr54=) n.1481T>A c.1068T>A (p.Thr356=) c.798T>A (p.Thr266=) | |
11 | g.123058649G>A | CA383057059 | HSPA8 | c.1505C>T (p.Thr502Ile) c.1387+118C>T (n.1387+118C>T) c.278C>T (p.Thr93Ile) c.1448C>T (p.Thr483Ile) c.161C>T (p.Thr54Ile) n.1480C>T c.1067C>T (p.Thr356Ile) c.797C>T (p.Thr266Ile) | dbSNP |
11 | g.123058649G>C | CA383057060 | HSPA8 | c.1505C>G (p.Thr502Ser) c.1387+118C>G (n.1387+118C>G) c.278C>G (p.Thr93Ser) c.1448C>G (p.Thr483Ser) c.161C>G (p.Thr54Ser) n.1480C>G c.1067C>G (p.Thr356Ser) c.797C>G (p.Thr266Ser) | |
11 | g.123058649G= | CA2005595323 | HSPA8 | c.1505C= (p.Thr502=) c.1387+118C= (n.1387+118C=) c.278C= (p.Thr93=) c.1448C= (p.Thr483=) c.161C= (p.Thr54=) n.1480C= c.1067C= (p.Thr356=) c.797C= (p.Thr266=) | |
11 | g.123058649G>T | CA383057062 | HSPA8 | c.1505C>A (p.Thr502Asn) c.1387+118C>A (n.1387+118C>A) c.278C>A (p.Thr93Asn) c.1448C>A (p.Thr483Asn) c.161C>A (p.Thr54Asn) n.1480C>A c.1067C>A (p.Thr356Asn) c.797C>A (p.Thr266Asn) | |
11 | g.123058650T>A | CA383057064 | HSPA8 | c.1504A>T (p.Thr502Ser) c.1387+117A>T (n.1387+117A>T) c.277A>T (p.Thr93Ser) c.1447A>T (p.Thr483Ser) c.160A>T (p.Thr54Ser) n.1479A>T c.1066A>T (p.Thr356Ser) c.796A>T (p.Thr266Ser) | |
11 | g.123058650T>C | CA383057068 | HSPA8 | c.1504A>G (p.Thr502Ala) c.1387+117A>G (n.1387+117A>G) c.277A>G (p.Thr93Ala) c.1447A>G (p.Thr483Ala) c.160A>G (p.Thr54Ala) n.1479A>G c.1066A>G (p.Thr356Ala) c.796A>G (p.Thr266Ala) | gnomAD v4 |
11 | g.123058650T>G | CA383057066 | HSPA8 | c.1504A>C (p.Thr502Pro) c.1387+117A>C (n.1387+117A>C) c.277A>C (p.Thr93Pro) c.1447A>C (p.Thr483Pro) c.160A>C (p.Thr54Pro) n.1479A>C c.1066A>C (p.Thr356Pro) c.796A>C (p.Thr266Pro) | |
11 | g.123058651A= | CA2005595333 | HSPA8 | c.1503T= (p.Ile501=) c.1387+116T= (n.1387+116T=) c.276T= (p.Ile92=) c.1446T= (p.Ile482=) c.159T= (p.Ile53=) n.1478T= c.1065T= (p.Ile355=) c.795T= (p.Ile265=) | |
11 | g.123058651A>C | CA383057069 | HSPA8 | c.1503T>G (p.Ile501Met) c.1387+116T>G (n.1387+116T>G) c.276T>G (p.Ile92Met) c.1446T>G (p.Ile482Met) c.159T>G (p.Ile53Met) n.1478T>G c.1065T>G (p.Ile355Met) c.795T>G (p.Ile265Met) | |
11 | g.123058651A>G | CA477385290 | HSPA8 | c.1503T>C (p.Ile501=) c.1387+116T>C (n.1387+116T>C) c.276T>C (p.Ile92=) c.1446T>C (p.Ile482=) c.159T>C (p.Ile53=) n.1478T>C c.1065T>C (p.Ile355=) c.795T>C (p.Ile265=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123058651A>T | CA477385291 | HSPA8 | c.1503T>A (p.Ile501=) c.1387+116T>A (n.1387+116T>A) c.276T>A (p.Ile92=) c.1446T>A (p.Ile482=) c.159T>A (p.Ile53=) n.1478T>A c.1065T>A (p.Ile355=) c.795T>A (p.Ile265=) | |
11 | g.123058652A>C | CA383057072 | HSPA8 | c.1502T>G (p.Ile501Ser) c.1387+115T>G (n.1387+115T>G) c.275T>G (p.Ile92Ser) c.1445T>G (p.Ile482Ser) c.158T>G (p.Ile53Ser) n.1477T>G c.1064T>G (p.Ile355Ser) c.794T>G (p.Ile265Ser) | |
11 | g.123058652A>G | CA383057073 | HSPA8 | c.1502T>C (p.Ile501Thr) c.1387+115T>C (n.1387+115T>C) c.275T>C (p.Ile92Thr) c.1445T>C (p.Ile482Thr) c.158T>C (p.Ile53Thr) n.1477T>C c.1064T>C (p.Ile355Thr) c.794T>C (p.Ile265Thr) | |
11 | g.123058652A>T | CA383057075 | HSPA8 | c.1502T>A (p.Ile501Asn) c.1387+115T>A (n.1387+115T>A) c.275T>A (p.Ile92Asn) c.1445T>A (p.Ile482Asn) c.158T>A (p.Ile53Asn) n.1477T>A c.1064T>A (p.Ile355Asn) c.794T>A (p.Ile265Asn) | |
11 | g.123058653T>A | CA383057076 | HSPA8 | c.1501A>T (p.Ile501Phe) c.1387+114A>T (n.1387+114A>T) c.274A>T (p.Ile92Phe) c.1444A>T (p.Ile482Phe) c.157A>T (p.Ile53Phe) n.1476A>T c.1063A>T (p.Ile355Phe) c.793A>T (p.Ile265Phe) | |
11 | g.123058653T>C | CA383057077 | HSPA8 | c.1501A>G (p.Ile501Val) c.1387+114A>G (n.1387+114A>G) c.274A>G (p.Ile92Val) c.1444A>G (p.Ile482Val) c.157A>G (p.Ile53Val) n.1476A>G c.1063A>G (p.Ile355Val) c.793A>G (p.Ile265Val) | |
11 | g.123058653T>G | CA383057080 | HSPA8 | c.1501A>C (p.Ile501Leu) c.1387+114A>C (n.1387+114A>C) c.274A>C (p.Ile92Leu) c.1444A>C (p.Ile482Leu) c.157A>C (p.Ile53Leu) n.1476A>C c.1063A>C (p.Ile355Leu) c.793A>C (p.Ile265Leu) | |
11 | g.123058654C>A | CA383057082 | HSPA8 | c.1500G>T (p.Lys500Asn) c.1387+113G>T (n.1387+113G>T) c.273G>T (p.Lys91Asn) c.1443G>T (p.Lys481Asn) c.156G>T (p.Lys52Asn) n.1475G>T c.1062G>T (p.Lys354Asn) c.792G>T (p.Lys264Asn) | |
11 | g.123058654C>G | CA383057084 | HSPA8 | c.1500G>C (p.Lys500Asn) c.1387+113G>C (n.1387+113G>C) c.273G>C (p.Lys91Asn) c.1443G>C (p.Lys481Asn) c.156G>C (p.Lys52Asn) n.1475G>C c.1062G>C (p.Lys354Asn) c.792G>C (p.Lys264Asn) | |
11 | g.123058654C>T | CA477385292 | HSPA8 | c.1500G>A (p.Lys500=) c.1387+113G>A (n.1387+113G>A) c.273G>A (p.Lys91=) c.1443G>A (p.Lys481=) c.156G>A (p.Lys52=) n.1475G>A c.1062G>A (p.Lys354=) c.792G>A (p.Lys264=) | |
11 | g.123058655T>A | CA383057086 | HSPA8 | c.1499A>T (p.Lys500Met) c.1387+112A>T (n.1387+112A>T) c.272A>T (p.Lys91Met) c.1442A>T (p.Lys481Met) c.155A>T (p.Lys52Met) n.1474A>T c.1061A>T (p.Lys354Met) c.791A>T (p.Lys264Met) | |
11 | g.123058655T>C | CA6332465 | HSPA8 | c.1499A>G (p.Lys500Arg) c.1387+112A>G (n.1387+112A>G) c.272A>G (p.Lys91Arg) c.1442A>G (p.Lys481Arg) c.155A>G (p.Lys52Arg) n.1474A>G c.1061A>G (p.Lys354Arg) c.791A>G (p.Lys264Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.123058655T>G | CA383057088 | HSPA8 | c.1499A>C (p.Lys500Thr) c.1387+112A>C (n.1387+112A>C) c.272A>C (p.Lys91Thr) c.1442A>C (p.Lys481Thr) c.155A>C (p.Lys52Thr) n.1474A>C c.1061A>C (p.Lys354Thr) c.791A>C (p.Lys264Thr) | |
11 | g.123058655T= | CA2005595351 | HSPA8 | c.1499A= (p.Lys500=) c.1387+112A= (n.1387+112A=) c.272A= (p.Lys91=) c.1442A= (p.Lys481=) c.155A= (p.Lys52=) n.1474A= c.1061A= (p.Lys354=) c.791A= (p.Lys264=) | |
11 | g.123058656T>A | CA383057091 | HSPA8 | c.1498A>T (p.Lys500Ter) c.1387+111A>T (n.1387+111A>T) c.271A>T (p.Lys91Ter) c.1441A>T (p.Lys481Ter) c.154A>T (p.Lys52Ter) n.1473A>T c.1060A>T (p.Lys354Ter) c.790A>T (p.Lys264Ter) | |
11 | g.123058656T>C | CA383057095 | HSPA8 | c.1498A>G (p.Lys500Glu) c.1387+111A>G (n.1387+111A>G) c.271A>G (p.Lys91Glu) c.1441A>G (p.Lys481Glu) c.154A>G (p.Lys52Glu) n.1473A>G c.1060A>G (p.Lys354Glu) c.790A>G (p.Lys264Glu) | |
11 | g.123058656T>G | CA383057093 | HSPA8 | c.1498A>C (p.Lys500Gln) c.1387+111A>C (n.1387+111A>C) c.271A>C (p.Lys91Gln) c.1441A>C (p.Lys481Gln) c.154A>C (p.Lys52Gln) n.1473A>C c.1060A>C (p.Lys354Gln) c.790A>C (p.Lys264Gln) | |
11 | g.123058657G>A | CA477385293 | HSPA8 | c.1497C>T (p.Asn499=) c.1387+110C>T (n.1387+110C>T) c.270C>T (p.Asn90=) c.1440C>T (p.Asn480=) c.153C>T (p.Asn51=) n.1472C>T c.1059C>T (p.Asn353=) c.789C>T (p.Asn263=) | |
11 | g.123058657G>C | CA383057097 | HSPA8 | c.1497C>G (p.Asn499Lys) c.1387+110C>G (n.1387+110C>G) c.270C>G (p.Asn90Lys) c.1440C>G (p.Asn480Lys) c.153C>G (p.Asn51Lys) n.1472C>G c.1059C>G (p.Asn353Lys) c.789C>G (p.Asn263Lys) | |
11 | g.123058657G>T | CA383057099 | HSPA8 | c.1497C>A (p.Asn499Lys) c.1387+110C>A (n.1387+110C>A) c.270C>A (p.Asn90Lys) c.1440C>A (p.Asn480Lys) c.153C>A (p.Asn51Lys) n.1472C>A c.1059C>A (p.Asn353Lys) c.789C>A (p.Asn263Lys) | |
11 | g.123058658T>A | CA383057101 | HSPA8 | c.1496A>T (p.Asn499Ile) c.1387+109A>T (n.1387+109A>T) c.269A>T (p.Asn90Ile) c.1439A>T (p.Asn480Ile) c.152A>T (p.Asn51Ile) n.1471A>T c.1058A>T (p.Asn353Ile) c.788A>T (p.Asn263Ile) | |
11 | g.123058658T>C | CA383057103 | HSPA8 | c.1496A>G (p.Asn499Ser) c.1387+109A>G (n.1387+109A>G) c.269A>G (p.Asn90Ser) c.1439A>G (p.Asn480Ser) c.152A>G (p.Asn51Ser) n.1471A>G c.1058A>G (p.Asn353Ser) c.788A>G (p.Asn263Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123058658T>G | CA383057105 | HSPA8 | c.1496A>C (p.Asn499Thr) c.1387+109A>C (n.1387+109A>C) c.269A>C (p.Asn90Thr) c.1439A>C (p.Asn480Thr) c.152A>C (p.Asn51Thr) n.1471A>C c.1058A>C (p.Asn353Thr) c.788A>C (p.Asn263Thr) | |
11 | g.123058658T= | CA2005595355 | HSPA8 | c.1496A= (p.Asn499=) c.1387+109A= (n.1387+109A=) c.269A= (p.Asn90=) c.1439A= (p.Asn480=) c.152A= (p.Asn51=) n.1471A= c.1058A= (p.Asn353=) c.788A= (p.Asn263=) | |
11 | g.123058659T>A | CA383057106 | HSPA8 | c.1495A>T (p.Asn499Tyr) c.1387+108A>T (n.1387+108A>T) c.268A>T (p.Asn90Tyr) c.1438A>T (p.Asn480Tyr) c.151A>T (p.Asn51Tyr) n.1470A>T c.1057A>T (p.Asn353Tyr) c.787A>T (p.Asn263Tyr) | |
11 | g.123058659T>C | CA383057107 | HSPA8 | c.1495A>G (p.Asn499Asp) c.1387+108A>G (n.1387+108A>G) c.268A>G (p.Asn90Asp) c.1438A>G (p.Asn480Asp) c.151A>G (p.Asn51Asp) n.1470A>G c.1057A>G (p.Asn353Asp) c.787A>G (p.Asn263Asp) | |
11 | g.123058659T>G | CA383057108 | HSPA8 | c.1495A>C (p.Asn499His) c.1387+108A>C (n.1387+108A>C) c.268A>C (p.Asn90His) c.1438A>C (p.Asn480His) c.151A>C (p.Asn51His) n.1470A>C c.1057A>C (p.Asn353His) c.787A>C (p.Asn263His) | |
11 | g.123058660C>A | CA383057109 | HSPA8 | c.1494G>T (p.Glu498Asp) c.1387+107G>T (n.1387+107G>T) c.267G>T (p.Glu89Asp) c.1437G>T (p.Glu479Asp) c.150G>T (p.Glu50Asp) n.1469G>T c.1056G>T (p.Glu352Asp) c.786G>T (p.Glu262Asp) | |
11 | g.123058660C= | CA2005595356 | HSPA8 | c.1494G= (p.Glu498=) c.1387+107G= (n.1387+107G=) c.267G= (p.Glu89=) c.1437G= (p.Glu479=) c.150G= (p.Glu50=) n.1469G= c.1056G= (p.Glu352=) c.786G= (p.Glu262=) | |
11 | g.123058660C>G | CA383057110 | HSPA8 | c.1494G>C (p.Glu498Asp) c.1387+107G>C (n.1387+107G>C) c.267G>C (p.Glu89Asp) c.1437G>C (p.Glu479Asp) c.150G>C (p.Glu50Asp) n.1469G>C c.1056G>C (p.Glu352Asp) c.786G>C (p.Glu262Asp) | |
11 | g.123058660C>T | CA477385294 | HSPA8 | c.1494G>A (p.Glu498=) c.1387+107G>A (n.1387+107G>A) c.267G>A (p.Glu89=) c.1437G>A (p.Glu479=) c.150G>A (p.Glu50=) n.1469G>A c.1056G>A (p.Glu352=) c.786G>A (p.Glu262=) | dbSNP gnomAD v4 |
11 | g.123058661T>A | CA383057111 | HSPA8 | c.1493A>T (p.Glu498Val) c.1387+106A>T (n.1387+106A>T) c.266A>T (p.Glu89Val) c.1436A>T (p.Glu479Val) c.149A>T (p.Glu50Val) n.1468A>T c.1055A>T (p.Glu352Val) c.785A>T (p.Glu262Val) | |
11 | g.123058661T>C | CA383057112 | HSPA8 | c.1493A>G (p.Glu498Gly) c.1387+106A>G (n.1387+106A>G) c.266A>G (p.Glu89Gly) c.1436A>G (p.Glu479Gly) c.149A>G (p.Glu50Gly) n.1468A>G c.1055A>G (p.Glu352Gly) c.785A>G (p.Glu262Gly) | |
11 | g.123058661T>G | CA383057113 | HSPA8 | c.1493A>C (p.Glu498Ala) c.1387+106A>C (n.1387+106A>C) c.266A>C (p.Glu89Ala) c.1436A>C (p.Glu479Ala) c.149A>C (p.Glu50Ala) n.1468A>C c.1055A>C (p.Glu352Ala) c.785A>C (p.Glu262Ala) | |
11 | g.123058662C>A | CA383057116 | HSPA8 | c.1492G>T (p.Glu498Ter) c.1387+105G>T (n.1387+105G>T) c.265G>T (p.Glu89Ter) c.1435G>T (p.Glu479Ter) c.148G>T (p.Glu50Ter) n.1467G>T c.1054G>T (p.Glu352Ter) c.784G>T (p.Glu262Ter) | |
11 | g.123058662C= | CA2005595358 | HSPA8 | c.1492G= (p.Glu498=) c.1387+105G= (n.1387+105G=) c.265G= (p.Glu89=) c.1435G= (p.Glu479=) c.148G= (p.Glu50=) n.1467G= c.1054G= (p.Glu352=) c.784G= (p.Glu262=) | |
11 | g.123058662C>G | CA383057114 | HSPA8 | c.1492G>C (p.Glu498Gln) c.1387+105G>C (n.1387+105G>C) c.265G>C (p.Glu89Gln) c.1435G>C (p.Glu479Gln) c.148G>C (p.Glu50Gln) n.1467G>C c.1054G>C (p.Glu352Gln) c.784G>C (p.Glu262Gln) | dbSNP gnomAD v4 |
11 | g.123058662C>T | CA383057115 | HSPA8 | c.1492G>A (p.Glu498Lys) c.1387+105G>A (n.1387+105G>A) c.265G>A (p.Glu89Lys) c.1435G>A (p.Glu479Lys) c.148G>A (p.Glu50Lys) n.1467G>A c.1054G>A (p.Glu352Lys) c.784G>A (p.Glu262Lys) | |
11 | g.123058663T>A | CA383057117 | HSPA8 | c.1491A>T (p.Lys497Asn) c.1387+104A>T (n.1387+104A>T) c.264A>T (p.Lys88Asn) c.1434A>T (p.Lys478Asn) c.147A>T (p.Lys49Asn) n.1466A>T c.1053A>T (p.Lys351Asn) c.783A>T (p.Lys261Asn) | |
11 | g.123058663T>C | CA477385295 | HSPA8 | c.1491A>G (p.Lys497=) c.1387+104A>G (n.1387+104A>G) c.264A>G (p.Lys88=) c.1434A>G (p.Lys478=) c.147A>G (p.Lys49=) n.1466A>G c.1053A>G (p.Lys351=) c.783A>G (p.Lys261=) | dbSNP gnomAD v4 |
11 | g.123058663T>G | CA383057118 | HSPA8 | c.1491A>C (p.Lys497Asn) c.1387+104A>C (n.1387+104A>C) c.264A>C (p.Lys88Asn) c.1434A>C (p.Lys478Asn) c.147A>C (p.Lys49Asn) n.1466A>C c.1053A>C (p.Lys351Asn) c.783A>C (p.Lys261Asn) | |
11 | g.123058663T= | CA2005595362 | HSPA8 | c.1491A= (p.Lys497=) c.1387+104A= (n.1387+104A=) c.264A= (p.Lys88=) c.1434A= (p.Lys478=) c.147A= (p.Lys49=) n.1466A= c.1053A= (p.Lys351=) c.783A= (p.Lys261=) | |
11 | g.123058666del | CA2616532791 | HSPA8 | c.1491del (p.Glu498ArgfsTer13) c.1387+104del (n.1387+104del) c.264del (p.Glu89ArgfsTer13) c.1434del (p.Glu479ArgfsTer13) c.147del (p.Glu50ArgfsTer13) n.1466del c.1053del (p.Glu352ArgfsTer13) c.783del (p.Glu262ArgfsTer13) | gnomAD v4 |
11 | g.123058664T>A | CA383057119 | HSPA8 | c.1490A>T (p.Lys497Ile) c.1387+103A>T (n.1387+103A>T) c.263A>T (p.Lys88Ile) c.1433A>T (p.Lys478Ile) c.146A>T (p.Lys49Ile) n.1465A>T c.1052A>T (p.Lys351Ile) c.782A>T (p.Lys261Ile) | |
11 | g.123058664T>C | CA383057120 | HSPA8 | c.1490A>G (p.Lys497Arg) c.1387+103A>G (n.1387+103A>G) c.263A>G (p.Lys88Arg) c.1433A>G (p.Lys478Arg) c.146A>G (p.Lys49Arg) n.1465A>G c.1052A>G (p.Lys351Arg) c.782A>G (p.Lys261Arg) | |
11 | g.123058664T>G | CA383057121 | HSPA8 | c.1490A>C (p.Lys497Thr) c.1387+103A>C (n.1387+103A>C) c.263A>C (p.Lys88Thr) c.1433A>C (p.Lys478Thr) c.146A>C (p.Lys49Thr) n.1465A>C c.1052A>C (p.Lys351Thr) c.782A>C (p.Lys261Thr) | |
11 | g.123058665T>A | CA383057122 | HSPA8 | c.1489A>T (p.Lys497Ter) c.1387+102A>T (n.1387+102A>T) c.262A>T (p.Lys88Ter) c.1432A>T (p.Lys478Ter) c.145A>T (p.Lys49Ter) n.1464A>T c.1051A>T (p.Lys351Ter) c.781A>T (p.Lys261Ter) | |
11 | g.123058665T>C | CA383057123 | HSPA8 | c.1489A>G (p.Lys497Glu) c.1387+102A>G (n.1387+102A>G) c.262A>G (p.Lys88Glu) c.1432A>G (p.Lys478Glu) c.145A>G (p.Lys49Glu) n.1464A>G c.1051A>G (p.Lys351Glu) c.781A>G (p.Lys261Glu) | gnomAD v4 |
11 | g.123058665T>G | CA383057124 | HSPA8 | c.1489A>C (p.Lys497Gln) c.1387+102A>C (n.1387+102A>C) c.262A>C (p.Lys88Gln) c.1432A>C (p.Lys478Gln) c.145A>C (p.Lys49Gln) n.1464A>C c.1051A>C (p.Lys351Gln) c.781A>C (p.Lys261Gln) | |
11 | g.123058666T>A | CA477385296 | HSPA8 | c.1488A>T (p.Gly496=) c.1387+101A>T (n.1387+101A>T) c.261A>T (p.Gly87=) c.1431A>T (p.Gly477=) c.144A>T (p.Gly48=) n.1463A>T c.1050A>T (p.Gly350=) c.780A>T (p.Gly260=) | |
11 | g.123058666T>C | CA477385297 | HSPA8 | c.1488A>G (p.Gly496=) c.1387+101A>G (n.1387+101A>G) c.261A>G (p.Gly87=) c.1431A>G (p.Gly477=) c.144A>G (p.Gly48=) n.1463A>G c.1050A>G (p.Gly350=) c.780A>G (p.Gly260=) | COSMIC |
11 | g.123058666T>G | CA477385298 | HSPA8 | c.1488A>C (p.Gly496=) c.1387+101A>C (n.1387+101A>C) c.261A>C (p.Gly87=) c.1431A>C (p.Gly477=) c.144A>C (p.Gly48=) n.1463A>C c.1050A>C (p.Gly350=) c.780A>C (p.Gly260=) | |
11 | g.123058667C>A | CA383057125 | HSPA8 | c.1487G>T (p.Gly496Val) c.1387+100G>T (n.1387+100G>T) c.260G>T (p.Gly87Val) c.1430G>T (p.Gly477Val) c.143G>T (p.Gly48Val) n.1462G>T c.1049G>T (p.Gly350Val) c.779G>T (p.Gly260Val) | |
11 | g.123058667C>G | CA383057126 | HSPA8 | c.1487G>C (p.Gly496Ala) c.1387+100G>C (n.1387+100G>C) c.260G>C (p.Gly87Ala) c.1430G>C (p.Gly477Ala) c.143G>C (p.Gly48Ala) n.1462G>C c.1049G>C (p.Gly350Ala) c.779G>C (p.Gly260Ala) | |
11 | g.123058667C>T | CA383057127 | HSPA8 | c.1487G>A (p.Gly496Glu) c.1387+100G>A (n.1387+100G>A) c.260G>A (p.Gly87Glu) c.1430G>A (p.Gly477Glu) c.143G>A (p.Gly48Glu) n.1462G>A c.1049G>A (p.Gly350Glu) c.779G>A (p.Gly260Glu) | |
11 | g.123058668C>A | CA383057130 | HSPA8 | c.1486G>T (p.Gly496Ter) c.1387+99G>T (n.1387+99G>T) c.259G>T (p.Gly87Ter) c.1429G>T (p.Gly477Ter) c.142G>T (p.Gly48Ter) n.1461G>T c.1048G>T (p.Gly350Ter) c.778G>T (p.Gly260Ter) | |
11 | g.123058668C>G | CA383057129 | HSPA8 | c.1486G>C (p.Gly496Arg) c.1387+99G>C (n.1387+99G>C) c.259G>C (p.Gly87Arg) c.1429G>C (p.Gly477Arg) c.142G>C (p.Gly48Arg) n.1461G>C c.1048G>C (p.Gly350Arg) c.778G>C (p.Gly260Arg) | |
11 | g.123058668C>T | CA383057128 | HSPA8 | c.1486G>A (p.Gly496Arg) c.1387+99G>A (n.1387+99G>A) c.259G>A (p.Gly87Arg) c.1429G>A (p.Gly477Arg) c.142G>A (p.Gly48Arg) n.1461G>A c.1048G>A (p.Gly350Arg) c.778G>A (p.Gly260Arg) | |
11 | g.123058669C>A | CA477385299 | HSPA8 | c.1485G>T (p.Thr495=) c.1387+98G>T (n.1387+98G>T) c.258G>T (p.Thr86=) c.1428G>T (p.Thr476=) c.141G>T (p.Thr47=) n.1460G>T c.1047G>T (p.Thr349=) c.777G>T (p.Thr259=) | |
11 | g.123058669C= | CA2005595364 | HSPA8 | c.1485G= (p.Thr495=) c.1387+98G= (n.1387+98G=) c.258G= (p.Thr86=) c.1428G= (p.Thr476=) c.141G= (p.Thr47=) n.1460G= c.1047G= (p.Thr349=) c.777G= (p.Thr259=) | |
11 | g.123058669C>G | CA477385300 | HSPA8 | c.1485G>C (p.Thr495=) c.1387+98G>C (n.1387+98G>C) c.258G>C (p.Thr86=) c.1428G>C (p.Thr476=) c.141G>C (p.Thr47=) n.1460G>C c.1047G>C (p.Thr349=) c.777G>C (p.Thr259=) | gnomAD v4 |
11 | g.123058669C>T | CA6332466 | HSPA8 | c.1485G>A (p.Thr495=) c.1387+98G>A (n.1387+98G>A) c.258G>A (p.Thr86=) c.1428G>A (p.Thr476=) c.141G>A (p.Thr47=) n.1460G>A c.1047G>A (p.Thr349=) c.777G>A (p.Thr259=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058670G>A | CA383057132 | HSPA8 | c.1484C>T (p.Thr495Met) c.1387+97C>T (n.1387+97C>T) c.257C>T (p.Thr86Met) c.1427C>T (p.Thr476Met) c.140C>T (p.Thr47Met) n.1459C>T c.1046C>T (p.Thr349Met) c.776C>T (p.Thr259Met) | gnomAD v4 |
11 | g.123058670G>C | CA383057131 | HSPA8 | c.1484C>G (p.Thr495Arg) c.1387+97C>G (n.1387+97C>G) c.257C>G (p.Thr86Arg) c.1427C>G (p.Thr476Arg) c.140C>G (p.Thr47Arg) n.1459C>G c.1046C>G (p.Thr349Arg) c.776C>G (p.Thr259Arg) | |
11 | g.123058670G>T | CA383057133 | HSPA8 | c.1484C>A (p.Thr495Lys) c.1387+97C>A (n.1387+97C>A) c.257C>A (p.Thr86Lys) c.1427C>A (p.Thr476Lys) c.140C>A (p.Thr47Lys) n.1459C>A c.1046C>A (p.Thr349Lys) c.776C>A (p.Thr259Lys) | COSMIC |
11 | g.123058671T>A | CA383057134 | HSPA8 | c.1483A>T (p.Thr495Ser) c.1387+96A>T (n.1387+96A>T) c.256A>T (p.Thr86Ser) c.1426A>T (p.Thr476Ser) c.139A>T (p.Thr47Ser) n.1458A>T c.1045A>T (p.Thr349Ser) c.775A>T (p.Thr259Ser) | |
11 | g.123058671T>C | CA383057136 | HSPA8 | c.1483A>G (p.Thr495Ala) c.1387+96A>G (n.1387+96A>G) c.256A>G (p.Thr86Ala) c.1426A>G (p.Thr476Ala) c.139A>G (p.Thr47Ala) n.1458A>G c.1045A>G (p.Thr349Ala) c.775A>G (p.Thr259Ala) | |
11 | g.123058671T>G | CA383057135 | HSPA8 | c.1483A>C (p.Thr495Pro) c.1387+96A>C (n.1387+96A>C) c.256A>C (p.Thr86Pro) c.1426A>C (p.Thr476Pro) c.139A>C (p.Thr47Pro) n.1458A>C c.1045A>C (p.Thr349Pro) c.775A>C (p.Thr259Pro) | |
11 | g.123058672A= | CA2005595370 | HSPA8 | c.1482T= (p.Ser494=) c.1387+95T= (n.1387+95T=) c.255T= (p.Ser85=) c.1425T= (p.Ser475=) c.138T= (p.Ser46=) n.1457T= c.1044T= (p.Ser348=) c.774T= (p.Ser258=) | |
11 | g.123058672A>C | CA383057137 | HSPA8 | c.1482T>G (p.Ser494Arg) c.1387+95T>G (n.1387+95T>G) c.255T>G (p.Ser85Arg) c.1425T>G (p.Ser475Arg) c.138T>G (p.Ser46Arg) n.1457T>G c.1044T>G (p.Ser348Arg) c.774T>G (p.Ser258Arg) | |
11 | g.123058672A>G | CA477385301 | HSPA8 | c.1482T>C (p.Ser494=) c.1387+95T>C (n.1387+95T>C) c.255T>C (p.Ser85=) c.1425T>C (p.Ser475=) c.138T>C (p.Ser46=) n.1457T>C c.1044T>C (p.Ser348=) c.774T>C (p.Ser258=) | gnomAD v4 |
11 | g.123058672A>T | CA383057138 | HSPA8 | c.1482T>A (p.Ser494Arg) c.1387+95T>A (n.1387+95T>A) c.255T>A (p.Ser85Arg) c.1425T>A (p.Ser475Arg) c.138T>A (p.Ser46Arg) n.1457T>A c.1044T>A (p.Ser348Arg) c.774T>A (p.Ser258Arg) | dbSNP gnomAD v4 |
11 | g.123058673C>A | CA383057139 | HSPA8 | c.1481G>T (p.Ser494Ile) c.1387+94G>T (n.1387+94G>T) c.254G>T (p.Ser85Ile) c.1424G>T (p.Ser475Ile) c.137G>T (p.Ser46Ile) n.1456G>T c.1043G>T (p.Ser348Ile) c.773G>T (p.Ser258Ile) | |
11 | g.123058673C>G | CA383057140 | HSPA8 | c.1481G>C (p.Ser494Thr) c.1387+94G>C (n.1387+94G>C) c.254G>C (p.Ser85Thr) c.1424G>C (p.Ser475Thr) c.137G>C (p.Ser46Thr) n.1456G>C c.1043G>C (p.Ser348Thr) c.773G>C (p.Ser258Thr) | |
11 | g.123058673C>T | CA383057141 | HSPA8 | c.1481G>A (p.Ser494Asn) c.1387+94G>A (n.1387+94G>A) c.254G>A (p.Ser85Asn) c.1424G>A (p.Ser475Asn) c.137G>A (p.Ser46Asn) n.1456G>A c.1043G>A (p.Ser348Asn) c.773G>A (p.Ser258Asn) | |
11 | g.123058674T>A | CA383057144 | HSPA8 | c.1480A>T (p.Ser494Cys) c.1387+93A>T (n.1387+93A>T) c.253A>T (p.Ser85Cys) c.1423A>T (p.Ser475Cys) c.136A>T (p.Ser46Cys) n.1455A>T c.1042A>T (p.Ser348Cys) c.772A>T (p.Ser258Cys) | |
11 | g.123058674T>C | CA383057143 | HSPA8 | c.1480A>G (p.Ser494Gly) c.1387+93A>G (n.1387+93A>G) c.253A>G (p.Ser85Gly) c.1423A>G (p.Ser475Gly) c.136A>G (p.Ser46Gly) n.1455A>G c.1042A>G (p.Ser348Gly) c.772A>G (p.Ser258Gly) | |
11 | g.123058674T>G | CA383057142 | HSPA8 | c.1480A>C (p.Ser494Arg) c.1387+93A>C (n.1387+93A>C) c.253A>C (p.Ser85Arg) c.1423A>C (p.Ser475Arg) c.136A>C (p.Ser46Arg) n.1455A>C c.1042A>C (p.Ser348Arg) c.772A>C (p.Ser258Arg) | |
11 | g.123058675C>A | CA383057145 | HSPA8 | c.1479G>T (p.Lys493Asn) c.1387+92G>T (n.1387+92G>T) c.252G>T (p.Lys84Asn) c.1422G>T (p.Lys474Asn) c.135G>T (p.Lys45Asn) n.1454G>T c.1041G>T (p.Lys347Asn) c.771G>T (p.Lys257Asn) | |
11 | g.123058675C= | CA2005595375 | HSPA8 | c.1479G= (p.Lys493=) c.1387+92G= (n.1387+92G=) c.252G= (p.Lys84=) c.1422G= (p.Lys474=) c.135G= (p.Lys45=) n.1454G= c.1041G= (p.Lys347=) c.771G= (p.Lys257=) | |
11 | g.123058675C>G | CA383057146 | HSPA8 | c.1479G>C (p.Lys493Asn) c.1387+92G>C (n.1387+92G>C) c.252G>C (p.Lys84Asn) c.1422G>C (p.Lys474Asn) c.135G>C (p.Lys45Asn) n.1454G>C c.1041G>C (p.Lys347Asn) c.771G>C (p.Lys257Asn) | COSMIC |
11 | g.123058675C>T | CA6332467 | HSPA8 | c.1479G>A (p.Lys493=) c.1387+92G>A (n.1387+92G>A) c.252G>A (p.Lys84=) c.1422G>A (p.Lys474=) c.135G>A (p.Lys45=) n.1454G>A c.1041G>A (p.Lys347=) c.771G>A (p.Lys257=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.123058676T>A | CA383057147 | HSPA8 | c.1478A>T (p.Lys493Met) c.1387+91A>T (n.1387+91A>T) c.251A>T (p.Lys84Met) c.1421A>T (p.Lys474Met) c.134A>T (p.Lys45Met) n.1453A>T c.1040A>T (p.Lys347Met) c.770A>T (p.Lys257Met) | |
11 | g.123058676T>C | CA383057148 | HSPA8 | c.1478A>G (p.Lys493Arg) c.1387+91A>G (n.1387+91A>G) c.251A>G (p.Lys84Arg) c.1421A>G (p.Lys474Arg) c.134A>G (p.Lys45Arg) n.1453A>G c.1040A>G (p.Lys347Arg) c.770A>G (p.Lys257Arg) | |
11 | g.123058676T>G | CA383057149 | HSPA8 | c.1478A>C (p.Lys493Thr) c.1387+91A>C (n.1387+91A>C) c.251A>C (p.Lys84Thr) c.1421A>C (p.Lys474Thr) c.134A>C (p.Lys45Thr) n.1453A>C c.1040A>C (p.Lys347Thr) c.770A>C (p.Lys257Thr) | |
11 | g.123058677T>A | CA383057150 | HSPA8 | c.1477A>T (p.Lys493Ter) c.1387+90A>T (n.1387+90A>T) c.250A>T (p.Lys84Ter) c.1420A>T (p.Lys474Ter) c.133A>T (p.Lys45Ter) n.1452A>T c.1039A>T (p.Lys347Ter) c.769A>T (p.Lys257Ter) | |
11 | g.123058677T>C | CA383057152 | HSPA8 | c.1477A>G (p.Lys493Glu) c.1387+90A>G (n.1387+90A>G) c.250A>G (p.Lys84Glu) c.1420A>G (p.Lys474Glu) c.133A>G (p.Lys45Glu) n.1452A>G c.1039A>G (p.Lys347Glu) c.769A>G (p.Lys257Glu) | |
11 | g.123058677T>G | CA383057151 | HSPA8 | c.1477A>C (p.Lys493Gln) c.1387+90A>C (n.1387+90A>C) c.250A>C (p.Lys84Gln) c.1420A>C (p.Lys474Gln) c.133A>C (p.Lys45Gln) n.1452A>C c.1039A>C (p.Lys347Gln) c.769A>C (p.Lys257Gln) | |
11 | g.123058678G>A | CA477385302 | HSPA8 | c.1476C>T (p.Asp492=) c.1387+89C>T (n.1387+89C>T) c.249C>T (p.Asp83=) c.1419C>T (p.Asp473=) c.132C>T (p.Asp44=) n.1451C>T c.1038C>T (p.Asp346=) c.768C>T (p.Asp256=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.123058678G>C | CA383057153 | HSPA8 | c.1476C>G (p.Asp492Glu) c.1387+89C>G (n.1387+89C>G) c.249C>G (p.Asp83Glu) c.1419C>G (p.Asp473Glu) c.132C>G (p.Asp44Glu) n.1451C>G c.1038C>G (p.Asp346Glu) c.768C>G (p.Asp256Glu) | COSMIC |
11 | g.123058678G= | CA2005595380 | HSPA8 | c.1476C= (p.Asp492=) c.1387+89C= (n.1387+89C=) c.249C= (p.Asp83=) c.1419C= (p.Asp473=) c.132C= (p.Asp44=) n.1451C= c.1038C= (p.Asp346=) c.768C= (p.Asp256=) | |
11 | g.123058678G>T | CA383057154 | HSPA8 | c.1476C>A (p.Asp492Glu) c.1387+89C>A (n.1387+89C>A) c.249C>A (p.Asp83Glu) c.1419C>A (p.Asp473Glu) c.132C>A (p.Asp44Glu) n.1451C>A c.1038C>A (p.Asp346Glu) c.768C>A (p.Asp256Glu) | gnomAD v4 |
11 | g.123058679T>A | CA383057155 | HSPA8 | c.1475A>T (p.Asp492Val) c.1387+88A>T (n.1387+88A>T) c.248A>T (p.Asp83Val) c.1418A>T (p.Asp473Val) c.131A>T (p.Asp44Val) n.1450A>T c.1037A>T (p.Asp346Val) c.767A>T (p.Asp256Val) | |
11 | g.123058679T>C | CA383057156 | HSPA8 | c.1475A>G (p.Asp492Gly) c.1387+88A>G (n.1387+88A>G) c.248A>G (p.Asp83Gly) c.1418A>G (p.Asp473Gly) c.131A>G (p.Asp44Gly) n.1450A>G c.1037A>G (p.Asp346Gly) c.767A>G (p.Asp256Gly) | |
11 | g.123058679T>G | CA383057157 | HSPA8 | c.1475A>C (p.Asp492Ala) c.1387+88A>C (n.1387+88A>C) c.248A>C (p.Asp83Ala) c.1418A>C (p.Asp473Ala) c.131A>C (p.Asp44Ala) n.1450A>C c.1037A>C (p.Asp346Ala) c.767A>C (p.Asp256Ala) | |
11 | g.123058680C>A | CA383057158 | HSPA8 | c.1474G>T (p.Asp492Tyr) c.1387+87G>T (n.1387+87G>T) c.247G>T (p.Asp83Tyr) c.1417G>T (p.Asp473Tyr) c.130G>T (p.Asp44Tyr) n.1449G>T c.1036G>T (p.Asp346Tyr) c.766G>T (p.Asp256Tyr) | |
11 | g.123058680C>G | CA383057159 | HSPA8 | c.1474G>C (p.Asp492His) c.1387+87G>C (n.1387+87G>C) c.247G>C (p.Asp83His) c.1417G>C (p.Asp473His) c.130G>C (p.Asp44His) n.1449G>C c.1036G>C (p.Asp346His) c.766G>C (p.Asp256His) | |
11 | g.123058680C>T | CA383057160 | HSPA8 | c.1474G>A (p.Asp492Asn) c.1387+87G>A (n.1387+87G>A) c.247G>A (p.Asp83Asn) c.1417G>A (p.Asp473Asn) c.130G>A (p.Asp44Asn) n.1449G>A c.1036G>A (p.Asp346Asn) c.766G>A (p.Asp256Asn) | |
11 | g.123058681C>A | CA477385305 | HSPA8 | c.1473G>T (p.Val491=) c.1387+86G>T (n.1387+86G>T) c.246G>T (p.Val82=) c.1416G>T (p.Val472=) c.129G>T (p.Val43=) n.1448G>T c.1035G>T (p.Val345=) c.765G>T (p.Val255=) | |
11 | g.123058681C>G | CA477385303 | HSPA8 | c.1473G>C (p.Val491=) c.1387+86G>C (n.1387+86G>C) c.246G>C (p.Val82=) c.1416G>C (p.Val472=) c.129G>C (p.Val43=) n.1448G>C c.1035G>C (p.Val345=) c.765G>C (p.Val255=) | |
11 | g.123058681C>T | CA477385304 | HSPA8 | c.1473G>A (p.Val491=) c.1387+86G>A (n.1387+86G>A) c.246G>A (p.Val82=) c.1416G>A (p.Val472=) c.129G>A (p.Val43=) n.1448G>A c.1035G>A (p.Val345=) c.765G>A (p.Val255=) | COSMIC |
11 | g.123058682A>C | CA383057161 | HSPA8 | c.1472T>G (p.Val491Gly) c.1387+85T>G (n.1387+85T>G) c.245T>G (p.Val82Gly) c.1415T>G (p.Val472Gly) c.128T>G (p.Val43Gly) n.1447T>G c.1034T>G (p.Val345Gly) c.764T>G (p.Val255Gly) | |
11 | g.123058682A>G | CA383057162 | HSPA8 | c.1472T>C (p.Val491Ala) c.1387+85T>C (n.1387+85T>C) c.245T>C (p.Val82Ala) c.1415T>C (p.Val472Ala) c.128T>C (p.Val43Ala) n.1447T>C c.1034T>C (p.Val345Ala) c.764T>C (p.Val255Ala) | gnomAD v4 |
11 | g.123058682A>T | CA383057163 | HSPA8 | c.1472T>A (p.Val491Glu) c.1387+85T>A (n.1387+85T>A) c.245T>A (p.Val82Glu) c.1415T>A (p.Val472Glu) c.128T>A (p.Val43Glu) n.1447T>A c.1034T>A (p.Val345Glu) c.764T>A (p.Val255Glu) | |
11 | g.123058682_123058691del | CA2616532792 | HSPA8 | c.1463_1472del (p.Val488GlyfsTer20) c.1387+76_1387+85del (n.1387+76_1387+85del) c.236_245del (p.Val79GlyfsTer20) c.1406_1415del (p.Val469GlyfsTer20) c.119_128del (p.Val40GlyfsTer20) n.1438_1447del c.1025_1034del (p.Val342GlyfsTer20) c.755_764del (p.Val252GlyfsTer20) | gnomAD v4 |
11 | g.123058683C>A | CA383057164 | HSPA8 | c.1471G>T (p.Val491Leu) c.1387+84G>T (n.1387+84G>T) c.244G>T (p.Val82Leu) c.1414G>T (p.Val472Leu) c.127G>T (p.Val43Leu) n.1446G>T c.1033G>T (p.Val345Leu) c.763G>T (p.Val255Leu) | |
11 | g.123058683C>G | CA383057166 | HSPA8 | c.1471G>C (p.Val491Leu) c.1387+84G>C (n.1387+84G>C) c.244G>C (p.Val82Leu) c.1414G>C (p.Val472Leu) c.127G>C (p.Val43Leu) n.1446G>C c.1033G>C (p.Val345Leu) c.763G>C (p.Val255Leu) | |
11 | g.123058683C>T | CA383057165 | HSPA8 | c.1471G>A (p.Val491Met) c.1387+84G>A (n.1387+84G>A) c.244G>A (p.Val82Met) c.1414G>A (p.Val472Met) c.127G>A (p.Val43Met) n.1446G>A c.1033G>A (p.Val345Met) c.763G>A (p.Val255Met) | |
11 | g.123058684A= | CA2005595388 | HSPA8 | c.1470T= (p.Ala490=) c.1387+83T= (n.1387+83T=) c.243T= (p.Ala81=) c.1413T= (p.Ala471=) c.126T= (p.Ala42=) n.1445T= c.1032T= (p.Ala344=) c.762T= (p.Ala254=) | |
11 | g.123058684A>C | CA477385306 | HSPA8 | c.1470T>G (p.Ala490=) c.1387+83T>G (n.1387+83T>G) c.243T>G (p.Ala81=) c.1413T>G (p.Ala471=) c.126T>G (p.Ala42=) n.1445T>G c.1032T>G (p.Ala344=) c.762T>G (p.Ala254=) | |
11 | g.123058684A>G | CA477385308 | HSPA8 | c.1470T>C (p.Ala490=) c.1387+83T>C (n.1387+83T>C) c.243T>C (p.Ala81=) c.1413T>C (p.Ala471=) c.126T>C (p.Ala42=) n.1445T>C c.1032T>C (p.Ala344=) c.762T>C (p.Ala254=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058684A>T | CA477385307 | HSPA8 | c.1470T>A (p.Ala490=) c.1387+83T>A (n.1387+83T>A) c.243T>A (p.Ala81=) c.1413T>A (p.Ala471=) c.126T>A (p.Ala42=) n.1445T>A c.1032T>A (p.Ala344=) c.762T>A (p.Ala254=) | |
11 | g.123058685G>A | CA383057167 | HSPA8 | c.1469C>T (p.Ala490Val) c.1387+82C>T (n.1387+82C>T) c.242C>T (p.Ala81Val) c.1412C>T (p.Ala471Val) c.125C>T (p.Ala42Val) n.1444C>T c.1031C>T (p.Ala344Val) c.761C>T (p.Ala254Val) | |
11 | g.123058685G>C | CA383057168 | HSPA8 | c.1469C>G (p.Ala490Gly) c.1387+82C>G (n.1387+82C>G) c.242C>G (p.Ala81Gly) c.1412C>G (p.Ala471Gly) c.125C>G (p.Ala42Gly) n.1444C>G c.1031C>G (p.Ala344Gly) c.761C>G (p.Ala254Gly) | |
11 | g.123058685G>T | CA383057169 | HSPA8 | c.1469C>A (p.Ala490Asp) c.1387+82C>A (n.1387+82C>A) c.242C>A (p.Ala81Asp) c.1412C>A (p.Ala471Asp) c.125C>A (p.Ala42Asp) n.1444C>A c.1031C>A (p.Ala344Asp) c.761C>A (p.Ala254Asp) | |
11 | g.123058686C>A | CA383057170 | HSPA8 | c.1468G>T (p.Ala490Ser) c.1387+81G>T (n.1387+81G>T) c.241G>T (p.Ala81Ser) c.1411G>T (p.Ala471Ser) c.124G>T (p.Ala42Ser) n.1443G>T c.1030G>T (p.Ala344Ser) c.760G>T (p.Ala254Ser) | |
11 | g.123058686C>G | CA383057171 | HSPA8 | c.1468G>C (p.Ala490Pro) c.1387+81G>C (n.1387+81G>C) c.241G>C (p.Ala81Pro) c.1411G>C (p.Ala471Pro) c.124G>C (p.Ala42Pro) n.1443G>C c.1030G>C (p.Ala344Pro) c.760G>C (p.Ala254Pro) | |
11 | g.123058686C>T | CA383057172 | HSPA8 | c.1468G>A (p.Ala490Thr) c.1387+81G>A (n.1387+81G>A) c.241G>A (p.Ala81Thr) c.1411G>A (p.Ala471Thr) c.124G>A (p.Ala42Thr) n.1443G>A c.1030G>A (p.Ala344Thr) c.760G>A (p.Ala254Thr) | |
11 | g.123058687A= | CA2005595394 | HSPA8 | c.1467T= (p.Ser489=) c.1387+80T= (n.1387+80T=) c.240T= (p.Ser80=) c.1410T= (p.Ser470=) c.123T= (p.Ser41=) n.1442T= c.1029T= (p.Ser343=) c.759T= (p.Ser253=) | |
11 | g.123058687A>C | CA477385309 | HSPA8 | c.1467T>G (p.Ser489=) c.1387+80T>G (n.1387+80T>G) c.240T>G (p.Ser80=) c.1410T>G (p.Ser470=) c.123T>G (p.Ser41=) n.1442T>G c.1029T>G (p.Ser343=) c.759T>G (p.Ser253=) | |
11 | g.123058687A>G | CA477385310 | HSPA8 | c.1467T>C (p.Ser489=) c.1387+80T>C (n.1387+80T>C) c.240T>C (p.Ser80=) c.1410T>C (p.Ser470=) c.123T>C (p.Ser41=) n.1442T>C c.1029T>C (p.Ser343=) c.759T>C (p.Ser253=) | |
11 | g.123058687A>T | CA6332468 | HSPA8 | c.1467T>A (p.Ser489=) c.1387+80T>A (n.1387+80T>A) c.240T>A (p.Ser80=) c.1410T>A (p.Ser470=) c.123T>A (p.Ser41=) n.1442T>A c.1029T>A (p.Ser343=) c.759T>A (p.Ser253=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.123058688G>A | CA383057173 | HSPA8 | c.1466C>T (p.Ser489Phe) c.1387+79C>T (n.1387+79C>T) c.239C>T (p.Ser80Phe) c.1409C>T (p.Ser470Phe) c.122C>T (p.Ser41Phe) n.1441C>T c.1028C>T (p.Ser343Phe) c.758C>T (p.Ser253Phe) | gnomAD v4 |
11 | g.123058688G>C | CA383057174 | HSPA8 | c.1466C>G (p.Ser489Cys) c.1387+79C>G (n.1387+79C>G) c.239C>G (p.Ser80Cys) c.1409C>G (p.Ser470Cys) c.122C>G (p.Ser41Cys) n.1441C>G c.1028C>G (p.Ser343Cys) c.758C>G (p.Ser253Cys) | |
11 | g.123058688G>T | CA383057175 | HSPA8 | c.1466C>A (p.Ser489Tyr) c.1387+79C>A (n.1387+79C>A) c.239C>A (p.Ser80Tyr) c.1409C>A (p.Ser470Tyr) c.122C>A (p.Ser41Tyr) n.1441C>A c.1028C>A (p.Ser343Tyr) c.758C>A (p.Ser253Tyr) | |
11 | g.123058689A>C | CA383057178 | HSPA8 | c.1465T>G (p.Ser489Ala) c.1387+78T>G (n.1387+78T>G) c.238T>G (p.Ser80Ala) c.1408T>G (p.Ser470Ala) c.121T>G (p.Ser41Ala) n.1440T>G c.1027T>G (p.Ser343Ala) c.757T>G (p.Ser253Ala) | |
11 | g.123058689A>G | CA383057177 | HSPA8 | c.1465T>C (p.Ser489Pro) c.1387+78T>C (n.1387+78T>C) c.238T>C (p.Ser80Pro) c.1408T>C (p.Ser470Pro) c.121T>C (p.Ser41Pro) n.1440T>C c.1027T>C (p.Ser343Pro) c.757T>C (p.Ser253Pro) | |
11 | g.123058689A>T | CA383057176 | HSPA8 | c.1465T>A (p.Ser489Thr) c.1387+78T>A (n.1387+78T>A) c.238T>A (p.Ser80Thr) c.1408T>A (p.Ser470Thr) c.121T>A (p.Ser41Thr) n.1440T>A c.1027T>A (p.Ser343Thr) c.757T>A (p.Ser253Thr) | |
11 | g.123058690G>A | CA477385311 | HSPA8 | c.1464C>T (p.Val488=) c.1387+77C>T (n.1387+77C>T) c.237C>T (p.Val79=) c.1407C>T (p.Val469=) c.120C>T (p.Val40=) n.1439C>T c.1026C>T (p.Val342=) c.756C>T (p.Val252=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058690G>C | CA229966843 | HSPA8 | c.1464C>G (p.Val488=) c.1387+77C>G (n.1387+77C>G) c.237C>G (p.Val79=) c.1407C>G (p.Val469=) c.120C>G (p.Val40=) n.1439C>G c.1026C>G (p.Val342=) c.756C>G (p.Val252=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123058690G= | CA2005595399 | HSPA8 | c.1464C= (p.Val488=) c.1387+77C= (n.1387+77C=) c.237C= (p.Val79=) c.1407C= (p.Val469=) c.120C= (p.Val40=) n.1439C= c.1026C= (p.Val342=) c.756C= (p.Val252=) | |
11 | g.123058690G>T | CA477385312 | HSPA8 | c.1464C>A (p.Val488=) c.1387+77C>A (n.1387+77C>A) c.237C>A (p.Val79=) c.1407C>A (p.Val469=) c.120C>A (p.Val40=) n.1439C>A c.1026C>A (p.Val342=) c.756C>A (p.Val252=) | |
11 | g.123058691A>C | CA383057179 | HSPA8 | c.1463T>G (p.Val488Gly) c.1387+76T>G (n.1387+76T>G) c.236T>G (p.Val79Gly) c.1406T>G (p.Val469Gly) c.119T>G (p.Val40Gly) n.1438T>G c.1025T>G (p.Val342Gly) c.755T>G (p.Val252Gly) | |
11 | g.123058691A>G | CA383057180 | HSPA8 | c.1463T>C (p.Val488Ala) c.1387+76T>C (n.1387+76T>C) c.236T>C (p.Val79Ala) c.1406T>C (p.Val469Ala) c.119T>C (p.Val40Ala) n.1438T>C c.1025T>C (p.Val342Ala) c.755T>C (p.Val252Ala) | |
11 | g.123058691A>T | CA383057181 | HSPA8 | c.1463T>A (p.Val488Asp) c.1387+76T>A (n.1387+76T>A) c.236T>A (p.Val79Asp) c.1406T>A (p.Val469Asp) c.119T>A (p.Val40Asp) n.1438T>A c.1025T>A (p.Val342Asp) c.755T>A (p.Val252Asp) | |
11 | g.123058691_123058692insTGCC | CA658783638 | HSPA8 | c.1462_1463insGGCA (p.Val488GlyfsTer19) c.1387+75_1387+76insGGCA (n.1387+75_1387+76insGGCA) c.235_236insGGCA (p.Val79GlyfsTer19) c.1405_1406insGGCA (p.Val469GlyfsTer19) c.118_119insGGCA (p.Val40GlyfsTer19) n.1437_1438insGGCA c.1024_1025insGGCA (p.Val342GlyfsTer19) c.754_755insGGCA (p.Val252GlyfsTer19) | |
11 | g.123058692C>A | CA383057182 | HSPA8 | c.1462G>T (p.Val488Phe) c.1387+75G>T (n.1387+75G>T) c.235G>T (p.Val79Phe) c.1405G>T (p.Val469Phe) c.118G>T (p.Val40Phe) n.1437G>T c.1024G>T (p.Val342Phe) c.754G>T (p.Val252Phe) | |
11 | g.123058692C>G | CA383057183 | HSPA8 | c.1462G>C (p.Val488Leu) c.1387+75G>C (n.1387+75G>C) c.235G>C (p.Val79Leu) c.1405G>C (p.Val469Leu) c.118G>C (p.Val40Leu) n.1437G>C c.1024G>C (p.Val342Leu) c.754G>C (p.Val252Leu) | |
11 | g.123058692C>T | CA383057184 | HSPA8 | c.1462G>A (p.Val488Ile) c.1387+75G>A (n.1387+75G>A) c.235G>A (p.Val79Ile) c.1405G>A (p.Val469Ile) c.118G>A (p.Val40Ile) n.1437G>A c.1024G>A (p.Val342Ile) c.754G>A (p.Val252Ile) | |
11 | g.123058693A>C | CA383057185 | HSPA8 | c.1461T>G (p.Asn487Lys) c.1387+74T>G (n.1387+74T>G) c.234T>G (p.Asn78Lys) c.1404T>G (p.Asn468Lys) c.117T>G (p.Asn39Lys) n.1436T>G c.1023T>G (p.Asn341Lys) c.753T>G (p.Asn251Lys) | |
11 | g.123058693A>G | CA477385313 | HSPA8 | c.1461T>C (p.Asn487=) c.1387+74T>C (n.1387+74T>C) c.234T>C (p.Asn78=) c.1404T>C (p.Asn468=) c.117T>C (p.Asn39=) n.1436T>C c.1023T>C (p.Asn341=) c.753T>C (p.Asn251=) | gnomAD v4 |
11 | g.123058693A>T | CA383057186 | HSPA8 | c.1461T>A (p.Asn487Lys) c.1387+74T>A (n.1387+74T>A) c.234T>A (p.Asn78Lys) c.1404T>A (p.Asn468Lys) c.117T>A (p.Asn39Lys) n.1436T>A c.1023T>A (p.Asn341Lys) c.753T>A (p.Asn251Lys) | |
11 | g.123058694T>A | CA383057187 | HSPA8 | c.1460A>T (p.Asn487Ile) c.1387+73A>T (n.1387+73A>T) c.233A>T (p.Asn78Ile) c.1403A>T (p.Asn468Ile) c.116A>T (p.Asn39Ile) n.1435A>T c.1022A>T (p.Asn341Ile) c.752A>T (p.Asn251Ile) | |
11 | g.123058694T>C | CA6332469 | HSPA8 | c.1460A>G (p.Asn487Ser) c.1387+73A>G (n.1387+73A>G) c.233A>G (p.Asn78Ser) c.1403A>G (p.Asn468Ser) c.116A>G (p.Asn39Ser) n.1435A>G c.1022A>G (p.Asn341Ser) c.752A>G (p.Asn251Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058694T>G | CA383057188 | HSPA8 | c.1460A>C (p.Asn487Thr) c.1387+73A>C (n.1387+73A>C) c.233A>C (p.Asn78Thr) c.1403A>C (p.Asn468Thr) c.116A>C (p.Asn39Thr) n.1435A>C c.1022A>C (p.Asn341Thr) c.752A>C (p.Asn251Thr) | |
11 | g.123058694T= | CA2005595402 | HSPA8 | c.1460A= (p.Asn487=) c.1387+73A= (n.1387+73A=) c.233A= (p.Asn78=) c.1403A= (p.Asn468=) c.116A= (p.Asn39=) n.1435A= c.1022A= (p.Asn341=) c.752A= (p.Asn251=) | |
11 | g.123058695T>A | CA383057190 | HSPA8 | c.1459A>T (p.Asn487Tyr) c.1387+72A>T (n.1387+72A>T) c.232A>T (p.Asn78Tyr) c.1402A>T (p.Asn468Tyr) c.115A>T (p.Asn39Tyr) n.1434A>T c.1021A>T (p.Asn341Tyr) c.751A>T (p.Asn251Tyr) | |
11 | g.123058695T>C | CA383057191 | HSPA8 | c.1459A>G (p.Asn487Asp) c.1387+72A>G (n.1387+72A>G) c.232A>G (p.Asn78Asp) c.1402A>G (p.Asn468Asp) c.115A>G (p.Asn39Asp) n.1434A>G c.1021A>G (p.Asn341Asp) c.751A>G (p.Asn251Asp) | |
11 | g.123058695T>G | CA383057189 | HSPA8 | c.1459A>C (p.Asn487His) c.1387+72A>C (n.1387+72A>C) c.232A>C (p.Asn78His) c.1402A>C (p.Asn468His) c.115A>C (p.Asn39His) n.1434A>C c.1021A>C (p.Asn341His) c.751A>C (p.Asn251His) | |
11 | g.123058695_123058696insCTCTTTTCCC | CA2616532793 | HSPA8 | c.1458_1459insGGGAAAAGAG (p.Asn487GlyfsTer22) c.1387+71_1387+72insGGGAAAAGAG (n.1387+71_1387+72insGGGAAAAGAG) c.231_232insGGGAAAAGAG (p.Asn78GlyfsTer22) c.1401_1402insGGGAAAAGAG (p.Asn468GlyfsTer22) c.114_115insGGGAAAAGAG (p.Asn39GlyfsTer22) n.1433_1434insGGGAAAAGAG c.1020_1021insGGGAAAAGAG (p.Asn341GlyfsTer22) c.750_751insGGGAAAAGAG (p.Asn251GlyfsTer22) | gnomAD v4 |
11 | g.123058696G>A | CA6332470 | HSPA8 | c.1458C>T (p.Leu486=) c.1387+71C>T (n.1387+71C>T) c.231C>T (p.Leu77=) c.1401C>T (p.Leu467=) c.114C>T (p.Leu38=) n.1433C>T c.1020C>T (p.Leu340=) c.750C>T (p.Leu250=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058696G>C | CA477385314 | HSPA8 | c.1458C>G (p.Leu486=) c.1387+71C>G (n.1387+71C>G) c.231C>G (p.Leu77=) c.1401C>G (p.Leu467=) c.114C>G (p.Leu38=) n.1433C>G c.1020C>G (p.Leu340=) c.750C>G (p.Leu250=) | |
11 | g.123058696G= | CA2005595404 | HSPA8 | c.1458C= (p.Leu486=) c.1387+71C= (n.1387+71C=) c.231C= (p.Leu77=) c.1401C= (p.Leu467=) c.114C= (p.Leu38=) n.1433C= c.1020C= (p.Leu340=) c.750C= (p.Leu250=) | |
11 | g.123058696G>T | CA477385315 | HSPA8 | c.1458C>A (p.Leu486=) c.1387+71C>A (n.1387+71C>A) c.231C>A (p.Leu77=) c.1401C>A (p.Leu467=) c.114C>A (p.Leu38=) n.1433C>A c.1020C>A (p.Leu340=) c.750C>A (p.Leu250=) | |
11 | g.123058697A>C | CA383057192 | HSPA8 | c.1457T>G (p.Leu486Arg) c.1387+70T>G (n.1387+70T>G) c.230T>G (p.Leu77Arg) c.1400T>G (p.Leu467Arg) c.113T>G (p.Leu38Arg) n.1432T>G c.1019T>G (p.Leu340Arg) c.749T>G (p.Leu250Arg) | |
11 | g.123058697A>G | CA383057193 | HSPA8 | c.1457T>C (p.Leu486Pro) c.1387+70T>C (n.1387+70T>C) c.230T>C (p.Leu77Pro) c.1400T>C (p.Leu467Pro) c.113T>C (p.Leu38Pro) n.1432T>C c.1019T>C (p.Leu340Pro) c.749T>C (p.Leu250Pro) | COSMIC |
11 | g.123058697A>T | CA383057194 | HSPA8 | c.1457T>A (p.Leu486His) c.1387+70T>A (n.1387+70T>A) c.230T>A (p.Leu77His) c.1400T>A (p.Leu467His) c.113T>A (p.Leu38His) n.1432T>A c.1019T>A (p.Leu340His) c.749T>A (p.Leu250His) | |
11 | g.123058697_123058700del | CA2616532794 | HSPA8 | c.1454_1457del (p.Ile485ThrfsTer25) c.1387+67_1387+70del (n.1387+67_1387+70del) c.227_230del (p.Ile76ThrfsTer25) c.1397_1400del (p.Ile466ThrfsTer25) c.110_113del (p.Ile37ThrfsTer25) n.1429_1432del c.1016_1019del (p.Ile339ThrfsTer25) c.746_749del (p.Ile249ThrfsTer25) | gnomAD v4 |
11 | g.123058698G>A | CA383057195 | HSPA8 | c.1456C>T (p.Leu486Phe) c.1387+69C>T (n.1387+69C>T) c.229C>T (p.Leu77Phe) c.1399C>T (p.Leu467Phe) c.112C>T (p.Leu38Phe) n.1431C>T c.1018C>T (p.Leu340Phe) c.748C>T (p.Leu250Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.123058698G>C | CA383057196 | HSPA8 | c.1456C>G (p.Leu486Val) c.1387+69C>G (n.1387+69C>G) c.229C>G (p.Leu77Val) c.1399C>G (p.Leu467Val) c.112C>G (p.Leu38Val) n.1431C>G c.1018C>G (p.Leu340Val) c.748C>G (p.Leu250Val) | gnomAD v4 |
11 | g.123058698G= | CA2005595406 | HSPA8 | c.1456C= (p.Leu486=) c.1387+69C= (n.1387+69C=) c.229C= (p.Leu77=) c.1399C= (p.Leu467=) c.112C= (p.Leu38=) n.1431C= c.1018C= (p.Leu340=) c.748C= (p.Leu250=) | |
11 | g.123058698G>T | CA383057197 | HSPA8 | c.1456C>A (p.Leu486Ile) c.1387+69C>A (n.1387+69C>A) c.229C>A (p.Leu77Ile) c.1399C>A (p.Leu467Ile) c.112C>A (p.Leu38Ile) n.1431C>A c.1018C>A (p.Leu340Ile) c.748C>A (p.Leu250Ile) | |
11 | g.123058699T>A | CA477385316 | HSPA8 | c.1455A>T (p.Ile485=) c.1387+68A>T (n.1387+68A>T) c.228A>T (p.Ile76=) c.1398A>T (p.Ile466=) c.111A>T (p.Ile37=) n.1430A>T c.1017A>T (p.Ile339=) c.747A>T (p.Ile249=) | gnomAD v4 |
11 | g.123058699T>C | CA383057198 | HSPA8 | c.1455A>G (p.Ile485Met) c.1387+68A>G (n.1387+68A>G) c.228A>G (p.Ile76Met) c.1398A>G (p.Ile466Met) c.111A>G (p.Ile37Met) n.1430A>G c.1017A>G (p.Ile339Met) c.747A>G (p.Ile249Met) | |
11 | g.123058699T>G | CA6332471 | HSPA8 | c.1455A>C (p.Ile485=) c.1387+68A>C (n.1387+68A>C) c.228A>C (p.Ile76=) c.1398A>C (p.Ile466=) c.111A>C (p.Ile37=) n.1430A>C c.1017A>C (p.Ile339=) c.747A>C (p.Ile249=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058699T= | CA2005595410 | HSPA8 | c.1455A= (p.Ile485=) c.1387+68A= (n.1387+68A=) c.228A= (p.Ile76=) c.1398A= (p.Ile466=) c.111A= (p.Ile37=) n.1430A= c.1017A= (p.Ile339=) c.747A= (p.Ile249=) | |
11 | g.123058700A>C | CA383057199 | HSPA8 | c.1454T>G (p.Ile485Arg) c.1387+67T>G (n.1387+67T>G) c.227T>G (p.Ile76Arg) c.1397T>G (p.Ile466Arg) c.110T>G (p.Ile37Arg) n.1429T>G c.1016T>G (p.Ile339Arg) c.746T>G (p.Ile249Arg) | |
11 | g.123058700A>G | CA383057200 | HSPA8 | c.1454T>C (p.Ile485Thr) c.1387+67T>C (n.1387+67T>C) c.227T>C (p.Ile76Thr) c.1397T>C (p.Ile466Thr) c.110T>C (p.Ile37Thr) n.1429T>C c.1016T>C (p.Ile339Thr) c.746T>C (p.Ile249Thr) | |
11 | g.123058700A>T | CA383057201 | HSPA8 | c.1454T>A (p.Ile485Lys) c.1387+67T>A (n.1387+67T>A) c.227T>A (p.Ile76Lys) c.1397T>A (p.Ile466Lys) c.110T>A (p.Ile37Lys) n.1429T>A c.1016T>A (p.Ile339Lys) c.746T>A (p.Ile249Lys) | |
11 | g.123058701T>A | CA383057202 | HSPA8 | c.1453A>T (p.Ile485Leu) c.1387+66A>T (n.1387+66A>T) c.226A>T (p.Ile76Leu) c.1396A>T (p.Ile466Leu) c.109A>T (p.Ile37Leu) n.1428A>T c.1015A>T (p.Ile339Leu) c.745A>T (p.Ile249Leu) | |
11 | g.123058701T>C | CA383057203 | HSPA8 | c.1453A>G (p.Ile485Val) c.1387+66A>G (n.1387+66A>G) c.226A>G (p.Ile76Val) c.1396A>G (p.Ile466Val) c.109A>G (p.Ile37Val) n.1428A>G c.1015A>G (p.Ile339Val) c.745A>G (p.Ile249Val) | |
11 | g.123058701T>G | CA383057204 | HSPA8 | c.1453A>C (p.Ile485Leu) c.1387+66A>C (n.1387+66A>C) c.226A>C (p.Ile76Leu) c.1396A>C (p.Ile466Leu) c.109A>C (p.Ile37Leu) n.1428A>C c.1015A>C (p.Ile339Leu) c.745A>C (p.Ile249Leu) | |
11 | g.123058702A>C | CA477385317 | HSPA8 | c.1452T>G (p.Gly484=) c.1387+65T>G (n.1387+65T>G) c.225T>G (p.Gly75=) c.1395T>G (p.Gly465=) c.108T>G (p.Gly36=) n.1427T>G c.1014T>G (p.Gly338=) c.744T>G (p.Gly248=) | |
11 | g.123058702A>G | CA477385318 | HSPA8 | c.1452T>C (p.Gly484=) c.1387+65T>C (n.1387+65T>C) c.225T>C (p.Gly75=) c.1395T>C (p.Gly465=) c.108T>C (p.Gly36=) n.1427T>C c.1014T>C (p.Gly338=) c.744T>C (p.Gly248=) | |
11 | g.123058702A>T | CA477385319 | HSPA8 | c.1452T>A (p.Gly484=) c.1387+65T>A (n.1387+65T>A) c.225T>A (p.Gly75=) c.1395T>A (p.Gly465=) c.108T>A (p.Gly36=) n.1427T>A c.1014T>A (p.Gly338=) c.744T>A (p.Gly248=) | |
11 | g.123058703C>A | CA383057205 | HSPA8 | c.1451G>T (p.Gly484Val) c.1387+64G>T (n.1387+64G>T) c.224G>T (p.Gly75Val) c.1394G>T (p.Gly465Val) c.107G>T (p.Gly36Val) n.1426G>T c.1013G>T (p.Gly338Val) c.743G>T (p.Gly248Val) | |
11 | g.123058703C>G | CA383057207 | HSPA8 | c.1451G>C (p.Gly484Ala) c.1387+64G>C (n.1387+64G>C) c.224G>C (p.Gly75Ala) c.1394G>C (p.Gly465Ala) c.107G>C (p.Gly36Ala) n.1426G>C c.1013G>C (p.Gly338Ala) c.743G>C (p.Gly248Ala) | |
11 | g.123058703C>T | CA383057206 | HSPA8 | c.1451G>A (p.Gly484Asp) c.1387+64G>A (n.1387+64G>A) c.224G>A (p.Gly75Asp) c.1394G>A (p.Gly465Asp) c.107G>A (p.Gly36Asp) n.1426G>A c.1013G>A (p.Gly338Asp) c.743G>A (p.Gly248Asp) | |
11 | g.123058704C>A | CA383057208 | HSPA8 | c.1450G>T (p.Gly484Cys) c.1387+63G>T (n.1387+63G>T) c.223G>T (p.Gly75Cys) c.1393G>T (p.Gly465Cys) c.106G>T (p.Gly36Cys) n.1425G>T c.1012G>T (p.Gly338Cys) c.742G>T (p.Gly248Cys) | |
11 | g.123058704C>G | CA383057209 | HSPA8 | c.1450G>C (p.Gly484Arg) c.1387+63G>C (n.1387+63G>C) c.223G>C (p.Gly75Arg) c.1393G>C (p.Gly465Arg) c.106G>C (p.Gly36Arg) n.1425G>C c.1012G>C (p.Gly338Arg) c.742G>C (p.Gly248Arg) | |
11 | g.123058704C>T | CA383057210 | HSPA8 | c.1450G>A (p.Gly484Ser) c.1387+63G>A (n.1387+63G>A) c.223G>A (p.Gly75Ser) c.1393G>A (p.Gly465Ser) c.106G>A (p.Gly36Ser) n.1425G>A c.1012G>A (p.Gly338Ser) c.742G>A (p.Gly248Ser) | |
11 | g.123058705A= | CA2005595416 | HSPA8 | c.1449T= (p.Asn483=) c.1387+62T= (n.1387+62T=) c.222T= (p.Asn74=) c.1392T= (p.Asn464=) c.105T= (p.Asn35=) n.1424T= c.1011T= (p.Asn337=) c.741T= (p.Asn247=) | |
11 | g.123058705A>C | CA383057211 | HSPA8 | c.1449T>G (p.Asn483Lys) c.1387+62T>G (n.1387+62T>G) c.222T>G (p.Asn74Lys) c.1392T>G (p.Asn464Lys) c.105T>G (p.Asn35Lys) n.1424T>G c.1011T>G (p.Asn337Lys) c.741T>G (p.Asn247Lys) | COSMIC |
11 | g.123058705A>G | CA6332472 | HSPA8 | c.1449T>C (p.Asn483=) c.1387+62T>C (n.1387+62T>C) c.222T>C (p.Asn74=) c.1392T>C (p.Asn464=) c.105T>C (p.Asn35=) n.1424T>C c.1011T>C (p.Asn337=) c.741T>C (p.Asn247=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058705A>T | CA383057212 | HSPA8 | c.1449T>A (p.Asn483Lys) c.1387+62T>A (n.1387+62T>A) c.222T>A (p.Asn74Lys) c.1392T>A (p.Asn464Lys) c.105T>A (p.Asn35Lys) n.1424T>A c.1011T>A (p.Asn337Lys) c.741T>A (p.Asn247Lys) | |
11 | g.123058706T>A | CA383057213 | HSPA8 | c.1448A>T (p.Asn483Ile) c.1387+61A>T (n.1387+61A>T) c.221A>T (p.Asn74Ile) c.1391A>T (p.Asn464Ile) c.104A>T (p.Asn35Ile) n.1423A>T c.1010A>T (p.Asn337Ile) c.740A>T (p.Asn247Ile) | |
11 | g.123058706T>C | CA383057214 | HSPA8 | c.1448A>G (p.Asn483Ser) c.1387+61A>G (n.1387+61A>G) c.221A>G (p.Asn74Ser) c.1391A>G (p.Asn464Ser) c.104A>G (p.Asn35Ser) n.1423A>G c.1010A>G (p.Asn337Ser) c.740A>G (p.Asn247Ser) | gnomAD v4 |
11 | g.123058706T>G | CA383057215 | HSPA8 | c.1448A>C (p.Asn483Thr) c.1387+61A>C (n.1387+61A>C) c.221A>C (p.Asn74Thr) c.1391A>C (p.Asn464Thr) c.104A>C (p.Asn35Thr) n.1423A>C c.1010A>C (p.Asn337Thr) c.740A>C (p.Asn247Thr) | |
11 | g.123058707T>A | CA383057216 | HSPA8 | c.1447A>T (p.Asn483Tyr) c.1387+60A>T (n.1387+60A>T) c.220A>T (p.Asn74Tyr) c.1390A>T (p.Asn464Tyr) c.103A>T (p.Asn35Tyr) n.1422A>T c.1009A>T (p.Asn337Tyr) c.739A>T (p.Asn247Tyr) | |
11 | g.123058707T>C | CA383057217 | HSPA8 | c.1447A>G (p.Asn483Asp) c.1387+60A>G (n.1387+60A>G) c.220A>G (p.Asn74Asp) c.1390A>G (p.Asn464Asp) c.103A>G (p.Asn35Asp) n.1422A>G c.1009A>G (p.Asn337Asp) c.739A>G (p.Asn247Asp) | |
11 | g.123058707T>G | CA383057218 | HSPA8 | c.1447A>C (p.Asn483His) c.1387+60A>C (n.1387+60A>C) c.220A>C (p.Asn74His) c.1390A>C (p.Asn464His) c.103A>C (p.Asn35His) n.1422A>C c.1009A>C (p.Asn337His) c.739A>C (p.Asn247His) | |
11 | g.123058708G>A | CA477385320 | HSPA8 | c.1446C>T (p.Ala482=) c.1387+59C>T (n.1387+59C>T) c.219C>T (p.Ala73=) c.1389C>T (p.Ala463=) c.102C>T (p.Ala34=) n.1421C>T c.1008C>T (p.Ala336=) c.738C>T (p.Ala246=) | dbSNP gnomAD v4 |
11 | g.123058708G>C | CA477385321 | HSPA8 | c.1446C>G (p.Ala482=) c.1387+59C>G (n.1387+59C>G) c.219C>G (p.Ala73=) c.1389C>G (p.Ala463=) c.102C>G (p.Ala34=) n.1421C>G c.1008C>G (p.Ala336=) c.738C>G (p.Ala246=) | |
11 | g.123058708G= | CA2005595425 | HSPA8 | c.1446C= (p.Ala482=) c.1387+59C= (n.1387+59C=) c.219C= (p.Ala73=) c.1389C= (p.Ala463=) c.102C= (p.Ala34=) n.1421C= c.1008C= (p.Ala336=) c.738C= (p.Ala246=) | |
11 | g.123058708G>T | CA477385322 | HSPA8 | c.1446C>A (p.Ala482=) c.1387+59C>A (n.1387+59C>A) c.219C>A (p.Ala73=) c.1389C>A (p.Ala463=) c.102C>A (p.Ala34=) n.1421C>A c.1008C>A (p.Ala336=) c.738C>A (p.Ala246=) | |
11 | g.123058709G>A | CA383057219 | HSPA8 | c.1445C>T (p.Ala482Val) c.1387+58C>T (n.1387+58C>T) c.218C>T (p.Ala73Val) c.1388C>T (p.Ala463Val) c.101C>T (p.Ala34Val) n.1420C>T c.1007C>T (p.Ala336Val) c.737C>T (p.Ala246Val) | gnomAD v4 COSMIC |
11 | g.123058709G>C | CA383057221 | HSPA8 | c.1445C>G (p.Ala482Gly) c.1387+58C>G (n.1387+58C>G) c.218C>G (p.Ala73Gly) c.1388C>G (p.Ala463Gly) c.101C>G (p.Ala34Gly) n.1420C>G c.1007C>G (p.Ala336Gly) c.737C>G (p.Ala246Gly) | |
11 | g.123058709G>T | CA383057220 | HSPA8 | c.1445C>A (p.Ala482Asp) c.1387+58C>A (n.1387+58C>A) c.218C>A (p.Ala73Asp) c.1388C>A (p.Ala463Asp) c.101C>A (p.Ala34Asp) n.1420C>A c.1007C>A (p.Ala336Asp) c.737C>A (p.Ala246Asp) | |
11 | g.123058710C>A | CA383057222 | HSPA8 | c.1444G>T (p.Ala482Ser) c.1387+57G>T (n.1387+57G>T) c.217G>T (p.Ala73Ser) c.1387G>T (p.Ala463Ser) c.100G>T (p.Ala34Ser) n.1419G>T c.1006G>T (p.Ala336Ser) c.736G>T (p.Ala246Ser) | |
11 | g.123058710C>G | CA383057223 | HSPA8 | c.1444G>C (p.Ala482Pro) c.1387+57G>C (n.1387+57G>C) c.217G>C (p.Ala73Pro) c.1387G>C (p.Ala463Pro) c.100G>C (p.Ala34Pro) n.1419G>C c.1006G>C (p.Ala336Pro) c.736G>C (p.Ala246Pro) | |
11 | g.123058710C>T | CA383057224 | HSPA8 | c.1444G>A (p.Ala482Thr) c.1387+57G>A (n.1387+57G>A) c.217G>A (p.Ala73Thr) c.1387G>A (p.Ala463Thr) c.100G>A (p.Ala34Thr) n.1419G>A c.1006G>A (p.Ala336Thr) c.736G>A (p.Ala246Thr) | |
11 | g.123058711A>C | CA383057225 | HSPA8 | c.1443T>G (p.Asp481Glu) c.1387+56T>G (n.1387+56T>G) c.216T>G (p.Asp72Glu) c.1386T>G (p.Asp462Glu) c.99T>G (p.Asp33Glu) n.1418T>G c.1005T>G (p.Asp335Glu) c.735T>G (p.Asp245Glu) | |
11 | g.123058711A>G | CA477385323 | HSPA8 | c.1443T>C (p.Asp481=) c.1387+56T>C (n.1387+56T>C) c.216T>C (p.Asp72=) c.1386T>C (p.Asp462=) c.99T>C (p.Asp33=) n.1418T>C c.1005T>C (p.Asp335=) c.735T>C (p.Asp245=) | |
11 | g.123058711A>T | CA383057226 | HSPA8 | c.1443T>A (p.Asp481Glu) c.1387+56T>A (n.1387+56T>A) c.216T>A (p.Asp72Glu) c.1386T>A (p.Asp462Glu) c.99T>A (p.Asp33Glu) n.1418T>A c.1005T>A (p.Asp335Glu) c.735T>A (p.Asp245Glu) | |
11 | g.123058712T>A | CA383057227 | HSPA8 | c.1442A>T (p.Asp481Val) c.1387+55A>T (n.1387+55A>T) c.215A>T (p.Asp72Val) c.1385A>T (p.Asp462Val) c.98A>T (p.Asp33Val) n.1417A>T c.1004A>T (p.Asp335Val) c.734A>T (p.Asp245Val) | |
11 | g.123058712T>C | CA383057228 | HSPA8 | c.1442A>G (p.Asp481Gly) c.1387+55A>G (n.1387+55A>G) c.215A>G (p.Asp72Gly) c.1385A>G (p.Asp462Gly) c.98A>G (p.Asp33Gly) n.1417A>G c.1004A>G (p.Asp335Gly) c.734A>G (p.Asp245Gly) | |
11 | g.123058712T>G | CA383057229 | HSPA8 | c.1442A>C (p.Asp481Ala) c.1387+55A>C (n.1387+55A>C) c.215A>C (p.Asp72Ala) c.1385A>C (p.Asp462Ala) c.98A>C (p.Asp33Ala) n.1417A>C c.1004A>C (p.Asp335Ala) c.734A>C (p.Asp245Ala) | |
11 | g.123058713C>A | CA383057230 | HSPA8 | c.1441G>T (p.Asp481Tyr) c.1387+54G>T (n.1387+54G>T) c.214G>T (p.Asp72Tyr) c.1384G>T (p.Asp462Tyr) c.97G>T (p.Asp33Tyr) n.1416G>T c.1003G>T (p.Asp335Tyr) c.733G>T (p.Asp245Tyr) | |
11 | g.123058713C>G | CA383057231 | HSPA8 | c.1441G>C (p.Asp481His) c.1387+54G>C (n.1387+54G>C) c.214G>C (p.Asp72His) c.1384G>C (p.Asp462His) c.97G>C (p.Asp33His) n.1416G>C c.1003G>C (p.Asp335His) c.733G>C (p.Asp245His) | |
11 | g.123058713C>T | CA383057232 | HSPA8 | c.1441G>A (p.Asp481Asn) c.1387+54G>A (n.1387+54G>A) c.214G>A (p.Asp72Asn) c.1384G>A (p.Asp462Asn) c.97G>A (p.Asp33Asn) n.1416G>A c.1003G>A (p.Asp335Asn) c.733G>A (p.Asp245Asn) | |
11 | g.123058714A= | CA2005595436 | HSPA8 | c.1440T= (p.Ile480=) c.1387+53T= (n.1387+53T=) c.213T= (p.Ile71=) c.1383T= (p.Ile461=) c.96T= (p.Ile32=) n.1415T= c.1002T= (p.Ile334=) c.732T= (p.Ile244=) | |
11 | g.123058714A>C | CA383057233 | HSPA8 | c.1440T>G (p.Ile480Met) c.1387+53T>G (n.1387+53T>G) c.213T>G (p.Ile71Met) c.1383T>G (p.Ile461Met) c.96T>G (p.Ile32Met) n.1415T>G c.1002T>G (p.Ile334Met) c.732T>G (p.Ile244Met) | |
11 | g.123058714A>G | CA6332473 | HSPA8 | c.1440T>C (p.Ile480=) c.1387+53T>C (n.1387+53T>C) c.213T>C (p.Ile71=) c.1383T>C (p.Ile461=) c.96T>C (p.Ile32=) n.1415T>C c.1002T>C (p.Ile334=) c.732T>C (p.Ile244=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.123058714A>T | CA477385324 | HSPA8 | c.1440T>A (p.Ile480=) c.1387+53T>A (n.1387+53T>A) c.213T>A (p.Ile71=) c.1383T>A (p.Ile461=) c.96T>A (p.Ile32=) n.1415T>A c.1002T>A (p.Ile334=) c.732T>A (p.Ile244=) | dbSNP |
11 | g.123058715A>C | CA383057236 | HSPA8 | c.1439T>G (p.Ile480Ser) c.1387+52T>G (n.1387+52T>G) c.212T>G (p.Ile71Ser) c.1382T>G (p.Ile461Ser) c.95T>G (p.Ile32Ser) n.1414T>G c.1001T>G (p.Ile334Ser) c.731T>G (p.Ile244Ser) | |
11 | g.123058715A>G | CA383057234 | HSPA8 | c.1439T>C (p.Ile480Thr) c.1387+52T>C (n.1387+52T>C) c.212T>C (p.Ile71Thr) c.1382T>C (p.Ile461Thr) c.95T>C (p.Ile32Thr) n.1414T>C c.1001T>C (p.Ile334Thr) c.731T>C (p.Ile244Thr) | |
11 | g.123058715A>T | CA383057235 | HSPA8 | c.1439T>A (p.Ile480Asn) c.1387+52T>A (n.1387+52T>A) c.212T>A (p.Ile71Asn) c.1382T>A (p.Ile461Asn) c.95T>A (p.Ile32Asn) n.1414T>A c.1001T>A (p.Ile334Asn) c.731T>A (p.Ile244Asn) | |
11 | g.123058716T>A | CA383057237 | HSPA8 | c.1438A>T (p.Ile480Phe) c.1387+51A>T (n.1387+51A>T) c.211A>T (p.Ile71Phe) c.1381A>T (p.Ile461Phe) c.94A>T (p.Ile32Phe) n.1413A>T c.1000A>T (p.Ile334Phe) c.730A>T (p.Ile244Phe) | |
11 | g.123058716T>C | CA383057238 | HSPA8 | c.1438A>G (p.Ile480Val) c.1387+51A>G (n.1387+51A>G) c.211A>G (p.Ile71Val) c.1381A>G (p.Ile461Val) c.94A>G (p.Ile32Val) n.1413A>G c.1000A>G (p.Ile334Val) c.730A>G (p.Ile244Val) | |
11 | g.123058716T>G | CA383057239 | HSPA8 | c.1438A>C (p.Ile480Leu) c.1387+51A>C (n.1387+51A>C) c.211A>C (p.Ile71Leu) c.1381A>C (p.Ile461Leu) c.94A>C (p.Ile32Leu) n.1413A>C c.1000A>C (p.Ile334Leu) c.730A>C (p.Ile244Leu) | |
11 | g.123058717G>A | CA229966857 | HSPA8 | c.1437C>T (p.Asp479=) c.1387+50C>T (n.1387+50C>T) c.210C>T (p.Asp70=) c.1380C>T (p.Asp460=) c.93C>T (p.Asp31=) n.1412C>T c.999C>T (p.Asp333=) c.729C>T (p.Asp243=) | dbSNP gnomAD v4 |
11 | g.123058717G>C | CA383057240 | HSPA8 | c.1437C>G (p.Asp479Glu) c.1387+50C>G (n.1387+50C>G) c.210C>G (p.Asp70Glu) c.1380C>G (p.Asp460Glu) c.93C>G (p.Asp31Glu) n.1412C>G c.999C>G (p.Asp333Glu) c.729C>G (p.Asp243Glu) | |
11 | g.123058717G= | CA2005595442 | HSPA8 | c.1437C= (p.Asp479=) c.1387+50C= (n.1387+50C=) c.210C= (p.Asp70=) c.1380C= (p.Asp460=) c.93C= (p.Asp31=) n.1412C= c.999C= (p.Asp333=) c.729C= (p.Asp243=) | |
11 | g.123058717G>T | CA383057241 | HSPA8 | c.1437C>A (p.Asp479Glu) c.1387+50C>A (n.1387+50C>A) c.210C>A (p.Asp70Glu) c.1380C>A (p.Asp460Glu) c.93C>A (p.Asp31Glu) n.1412C>A c.999C>A (p.Asp333Glu) c.729C>A (p.Asp243Glu) | |
11 | g.123058718T>A | CA383057242 | HSPA8 | c.1436A>T (p.Asp479Val) c.1387+49A>T (n.1387+49A>T) c.209A>T (p.Asp70Val) c.1379A>T (p.Asp460Val) c.92A>T (p.Asp31Val) n.1411A>T c.998A>T (p.Asp333Val) c.728A>T (p.Asp243Val) | |
11 | g.123058718T>C | CA383057243 | HSPA8 | c.1436A>G (p.Asp479Gly) c.1387+49A>G (n.1387+49A>G) c.209A>G (p.Asp70Gly) c.1379A>G (p.Asp460Gly) c.92A>G (p.Asp31Gly) n.1411A>G c.998A>G (p.Asp333Gly) c.728A>G (p.Asp243Gly) | |
11 | g.123058718T>G | CA383057244 | HSPA8 | c.1436A>C (p.Asp479Ala) c.1387+49A>C (n.1387+49A>C) c.209A>C (p.Asp70Ala) c.1379A>C (p.Asp460Ala) c.92A>C (p.Asp31Ala) n.1411A>C c.998A>C (p.Asp333Ala) c.728A>C (p.Asp243Ala) | |
11 | g.123058719C>A | CA383057245 | HSPA8 | c.1435G>T (p.Asp479Tyr) c.1387+48G>T (n.1387+48G>T) c.208G>T (p.Asp70Tyr) c.1378G>T (p.Asp460Tyr) c.91G>T (p.Asp31Tyr) n.1410G>T c.997G>T (p.Asp333Tyr) c.727G>T (p.Asp243Tyr) | |
11 | g.123058719C>G | CA383057246 | HSPA8 | c.1435G>C (p.Asp479His) c.1387+48G>C (n.1387+48G>C) c.208G>C (p.Asp70His) c.1378G>C (p.Asp460His) c.91G>C (p.Asp31His) n.1410G>C c.997G>C (p.Asp333His) c.727G>C (p.Asp243His) | |
11 | g.123058719C>T | CA383057247 | HSPA8 | c.1435G>A (p.Asp479Asn) c.1387+48G>A (n.1387+48G>A) c.208G>A (p.Asp70Asn) c.1378G>A (p.Asp460Asn) c.91G>A (p.Asp31Asn) n.1410G>A c.997G>A (p.Asp333Asn) c.727G>A (p.Asp243Asn) | |
11 | g.123058720A= | CA2005595448 | HSPA8 | c.1434T= (p.Phe478=) c.1387+47T= (n.1387+47T=) c.207T= (p.Phe69=) c.1377T= (p.Phe459=) c.90T= (p.Phe30=) n.1409T= c.996T= (p.Phe332=) c.726T= (p.Phe242=) | |
11 | g.123058720A>C | CA383057249 | HSPA8 | c.1434T>G (p.Phe478Leu) c.1387+47T>G (n.1387+47T>G) c.207T>G (p.Phe69Leu) c.1377T>G (p.Phe459Leu) c.90T>G (p.Phe30Leu) n.1409T>G c.996T>G (p.Phe332Leu) c.726T>G (p.Phe242Leu) | |
11 | g.123058720A>G | CA6332474 | HSPA8 | c.1434T>C (p.Phe478=) c.1387+47T>C (n.1387+47T>C) c.207T>C (p.Phe69=) c.1377T>C (p.Phe459=) c.90T>C (p.Phe30=) n.1409T>C c.996T>C (p.Phe332=) c.726T>C (p.Phe242=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058720A>T | CA383057248 | HSPA8 | c.1434T>A (p.Phe478Leu) c.1387+47T>A (n.1387+47T>A) c.207T>A (p.Phe69Leu) c.1377T>A (p.Phe459Leu) c.90T>A (p.Phe30Leu) n.1409T>A c.996T>A (p.Phe332Leu) c.726T>A (p.Phe242Leu) | |
11 | g.123058722_123058723del | CA2616532795 | HSPA8 | c.1433_1434del (p.Phe478Ter) c.1387+46_1387+47del (n.1387+46_1387+47del) c.206_207del (p.Phe69Ter) c.1376_1377del (p.Phe459Ter) c.89_90del (p.Phe30Ter) n.1408_1409del c.995_996del (p.Phe332Ter) c.725_726del (p.Phe242Ter) | gnomAD v4 |
11 | g.123058721A>C | CA383057250 | HSPA8 | c.1433T>G (p.Phe478Cys) c.1387+46T>G (n.1387+46T>G) c.206T>G (p.Phe69Cys) c.1376T>G (p.Phe459Cys) c.89T>G (p.Phe30Cys) n.1408T>G c.995T>G (p.Phe332Cys) c.725T>G (p.Phe242Cys) | |
11 | g.123058721A>G | CA383057252 | HSPA8 | c.1433T>C (p.Phe478Ser) c.1387+46T>C (n.1387+46T>C) c.206T>C (p.Phe69Ser) c.1376T>C (p.Phe459Ser) c.89T>C (p.Phe30Ser) n.1408T>C c.995T>C (p.Phe332Ser) c.725T>C (p.Phe242Ser) | |
11 | g.123058721A>T | CA383057251 | HSPA8 | c.1433T>A (p.Phe478Tyr) c.1387+46T>A (n.1387+46T>A) c.206T>A (p.Phe69Tyr) c.1376T>A (p.Phe459Tyr) c.89T>A (p.Phe30Tyr) n.1408T>A c.995T>A (p.Phe332Tyr) c.725T>A (p.Phe242Tyr) | |
11 | g.123058722A>C | CA383057253 | HSPA8 | c.1432T>G (p.Phe478Val) c.1387+45T>G (n.1387+45T>G) c.205T>G (p.Phe69Val) c.1375T>G (p.Phe459Val) c.88T>G (p.Phe30Val) n.1407T>G c.994T>G (p.Phe332Val) c.724T>G (p.Phe242Val) | |
11 | g.123058722A>G | CA383057254 | HSPA8 | c.1432T>C (p.Phe478Leu) c.1387+45T>C (n.1387+45T>C) c.205T>C (p.Phe69Leu) c.1375T>C (p.Phe459Leu) c.88T>C (p.Phe30Leu) n.1407T>C c.994T>C (p.Phe332Leu) c.724T>C (p.Phe242Leu) | gnomAD v4 |
11 | g.123058722A>T | CA383057255 | HSPA8 | c.1432T>A (p.Phe478Ile) c.1387+45T>A (n.1387+45T>A) c.205T>A (p.Phe69Ile) c.1375T>A (p.Phe459Ile) c.88T>A (p.Phe30Ile) n.1407T>A c.994T>A (p.Phe332Ile) c.724T>A (p.Phe242Ile) | |
11 | g.123058723A= | CA2005595452 | HSPA8 | c.1431T= (p.Thr477=) c.1387+44T= (n.1387+44T=) c.204T= (p.Thr68=) c.1374T= (p.Thr458=) c.87T= (p.Thr29=) n.1406T= c.993T= (p.Thr331=) c.723T= (p.Thr241=) | |
11 | g.123058723A>C | CA477385327 | HSPA8 | c.1431T>G (p.Thr477=) c.1387+44T>G (n.1387+44T>G) c.204T>G (p.Thr68=) c.1374T>G (p.Thr458=) c.87T>G (p.Thr29=) n.1406T>G c.993T>G (p.Thr331=) c.723T>G (p.Thr241=) | |
11 | g.123058723A>G | CA477385326 | HSPA8 | c.1431T>C (p.Thr477=) c.1387+44T>C (n.1387+44T>C) c.204T>C (p.Thr68=) c.1374T>C (p.Thr458=) c.87T>C (p.Thr29=) n.1406T>C c.993T>C (p.Thr331=) c.723T>C (p.Thr241=) | dbSNP |
11 | g.123058723A>T | CA477385325 | HSPA8 | c.1431T>A (p.Thr477=) c.1387+44T>A (n.1387+44T>A) c.204T>A (p.Thr68=) c.1374T>A (p.Thr458=) c.87T>A (p.Thr29=) n.1406T>A c.993T>A (p.Thr331=) c.723T>A (p.Thr241=) | dbSNP |
11 | g.123058724G>A | CA383057256 | HSPA8 | c.1430C>T (p.Thr477Ile) c.1387+43C>T (n.1387+43C>T) c.203C>T (p.Thr68Ile) c.1373C>T (p.Thr458Ile) c.86C>T (p.Thr29Ile) n.1405C>T c.992C>T (p.Thr331Ile) c.722C>T (p.Thr241Ile) | |
11 | g.123058724G>C | CA383057257 | HSPA8 | c.1430C>G (p.Thr477Ser) c.1387+43C>G (n.1387+43C>G) c.203C>G (p.Thr68Ser) c.1373C>G (p.Thr458Ser) c.86C>G (p.Thr29Ser) n.1405C>G c.992C>G (p.Thr331Ser) c.722C>G (p.Thr241Ser) | |
11 | g.123058724G>T | CA383057258 | HSPA8 | c.1430C>A (p.Thr477Asn) c.1387+43C>A (n.1387+43C>A) c.203C>A (p.Thr68Asn) c.1373C>A (p.Thr458Asn) c.86C>A (p.Thr29Asn) n.1405C>A c.992C>A (p.Thr331Asn) c.722C>A (p.Thr241Asn) | |
11 | g.123058725T>A | CA383057259 | HSPA8 | c.1429A>T (p.Thr477Ser) c.1387+42A>T (n.1387+42A>T) c.202A>T (p.Thr68Ser) c.1372A>T (p.Thr458Ser) c.85A>T (p.Thr29Ser) n.1404A>T c.991A>T (p.Thr331Ser) c.721A>T (p.Thr241Ser) | |
11 | g.123058725T>C | CA383057260 | HSPA8 | c.1429A>G (p.Thr477Ala) c.1387+42A>G (n.1387+42A>G) c.202A>G (p.Thr68Ala) c.1372A>G (p.Thr458Ala) c.85A>G (p.Thr29Ala) n.1404A>G c.991A>G (p.Thr331Ala) c.721A>G (p.Thr241Ala) | |
11 | g.123058725T>G | CA383057261 | HSPA8 | c.1429A>C (p.Thr477Pro) c.1387+42A>C (n.1387+42A>C) c.202A>C (p.Thr68Pro) c.1372A>C (p.Thr458Pro) c.85A>C (p.Thr29Pro) n.1404A>C c.991A>C (p.Thr331Pro) c.721A>C (p.Thr241Pro) | |
11 | g.123058726G>A | CA477385329 | HSPA8 | c.1428C>T (p.Val476=) c.1387+41C>T (n.1387+41C>T) c.201C>T (p.Val67=) c.1371C>T (p.Val457=) c.84C>T (p.Val28=) n.1403C>T c.990C>T (p.Val330=) c.720C>T (p.Val240=) | dbSNP gnomAD v4 |
11 | g.123058726G>C | CA229966859 | HSPA8 | c.1428C>G (p.Val476=) c.1387+41C>G (n.1387+41C>G) c.201C>G (p.Val67=) c.1371C>G (p.Val457=) c.84C>G (p.Val28=) n.1403C>G c.990C>G (p.Val330=) c.720C>G (p.Val240=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123058726G= | CA2005595481 | HSPA8 | c.1428C= (p.Val476=) c.1387+41C= (n.1387+41C=) c.201C= (p.Val67=) c.1371C= (p.Val457=) c.84C= (p.Val28=) n.1403C= c.990C= (p.Val330=) c.720C= (p.Val240=) | |
11 | g.123058726G>T | CA477385328 | HSPA8 | c.1428C>A (p.Val476=) c.1387+41C>A (n.1387+41C>A) c.201C>A (p.Val67=) c.1371C>A (p.Val457=) c.84C>A (p.Val28=) n.1403C>A c.990C>A (p.Val330=) c.720C>A (p.Val240=) | dbSNP gnomAD v4 |
11 | g.123058727A>C | CA383057262 | HSPA8 | c.1427T>G (p.Val476Gly) c.1387+40T>G (n.1387+40T>G) c.200T>G (p.Val67Gly) c.1370T>G (p.Val457Gly) c.83T>G (p.Val28Gly) n.1402T>G c.989T>G (p.Val330Gly) c.719T>G (p.Val240Gly) | |
11 | g.123058727A>G | CA383057263 | HSPA8 | c.1427T>C (p.Val476Ala) c.1387+40T>C (n.1387+40T>C) c.200T>C (p.Val67Ala) c.1370T>C (p.Val457Ala) c.83T>C (p.Val28Ala) n.1402T>C c.989T>C (p.Val330Ala) c.719T>C (p.Val240Ala) | |
11 | g.123058727A>T | CA383057264 | HSPA8 | c.1427T>A (p.Val476Asp) c.1387+40T>A (n.1387+40T>A) c.200T>A (p.Val67Asp) c.1370T>A (p.Val457Asp) c.83T>A (p.Val28Asp) n.1402T>A c.989T>A (p.Val330Asp) c.719T>A (p.Val240Asp) | |
11 | g.123058728C>A | CA383057267 | HSPA8 | c.1426G>T (p.Val476Phe) c.1387+39G>T (n.1387+39G>T) c.199G>T (p.Val67Phe) c.1369G>T (p.Val457Phe) c.82G>T (p.Val28Phe) n.1401G>T c.988G>T (p.Val330Phe) c.718G>T (p.Val240Phe) | |
11 | g.123058728C= | CA2005595487 | HSPA8 | c.1426G= (p.Val476=) c.1387+39G= (n.1387+39G=) c.199G= (p.Val67=) c.1369G= (p.Val457=) c.82G= (p.Val28=) n.1401G= c.988G= (p.Val330=) c.718G= (p.Val240=) | |
11 | g.123058728C>G | CA383057266 | HSPA8 | c.1426G>C (p.Val476Leu) c.1387+39G>C (n.1387+39G>C) c.199G>C (p.Val67Leu) c.1369G>C (p.Val457Leu) c.82G>C (p.Val28Leu) n.1401G>C c.988G>C (p.Val330Leu) c.718G>C (p.Val240Leu) | dbSNP |
11 | g.123058728C>T | CA383057265 | HSPA8 | c.1426G>A (p.Val476Ile) c.1387+39G>A (n.1387+39G>A) c.199G>A (p.Val67Ile) c.1369G>A (p.Val457Ile) c.82G>A (p.Val28Ile) n.1401G>A c.988G>A (p.Val330Ile) c.718G>A (p.Val240Ile) | |
11 | g.123058729T>A | CA383057268 | HSPA8 | c.1425A>T (p.Glu475Asp) c.1387+38A>T (n.1387+38A>T) c.198A>T (p.Glu66Asp) c.1368A>T (p.Glu456Asp) c.81A>T (p.Glu27Asp) n.1400A>T c.987A>T (p.Glu329Asp) c.717A>T (p.Glu239Asp) | |
11 | g.123058729T>C | CA6332475 | HSPA8 | c.1425A>G (p.Glu475=) c.1387+38A>G (n.1387+38A>G) c.198A>G (p.Glu66=) c.1368A>G (p.Glu456=) c.81A>G (p.Glu27=) n.1400A>G c.987A>G (p.Glu329=) c.717A>G (p.Glu239=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058729T>G | CA383057269 | HSPA8 | c.1425A>C (p.Glu475Asp) c.1387+38A>C (n.1387+38A>C) c.198A>C (p.Glu66Asp) c.1368A>C (p.Glu456Asp) c.81A>C (p.Glu27Asp) n.1400A>C c.987A>C (p.Glu329Asp) c.717A>C (p.Glu239Asp) | |
11 | g.123058729T= | CA2005595494 | HSPA8 | c.1425A= (p.Glu475=) c.1387+38A= (n.1387+38A=) c.198A= (p.Glu66=) c.1368A= (p.Glu456=) c.81A= (p.Glu27=) n.1400A= c.987A= (p.Glu329=) c.717A= (p.Glu239=) | |
11 | g.123058730T>A | CA383057270 | HSPA8 | c.1424A>T (p.Glu475Val) c.1387+37A>T (n.1387+37A>T) c.197A>T (p.Glu66Val) c.1367A>T (p.Glu456Val) c.80A>T (p.Glu27Val) n.1399A>T c.986A>T (p.Glu329Val) c.716A>T (p.Glu239Val) | |
11 | g.123058730T>C | CA383057271 | HSPA8 | c.1424A>G (p.Glu475Gly) c.1387+37A>G (n.1387+37A>G) c.197A>G (p.Glu66Gly) c.1367A>G (p.Glu456Gly) c.80A>G (p.Glu27Gly) n.1399A>G c.986A>G (p.Glu329Gly) c.716A>G (p.Glu239Gly) | |
11 | g.123058730T>G | CA383057272 | HSPA8 | c.1424A>C (p.Glu475Ala) c.1387+37A>C (n.1387+37A>C) c.197A>C (p.Glu66Ala) c.1367A>C (p.Glu456Ala) c.80A>C (p.Glu27Ala) n.1399A>C c.986A>C (p.Glu329Ala) c.716A>C (p.Glu239Ala) | |
11 | g.123058731C>A | CA383057273 | HSPA8 | c.1423G>T (p.Glu475Ter) c.1387+36G>T (n.1387+36G>T) c.196G>T (p.Glu66Ter) c.1366G>T (p.Glu456Ter) c.79G>T (p.Glu27Ter) n.1398G>T c.985G>T (p.Glu329Ter) c.715G>T (p.Glu239Ter) | |
11 | g.123058731C>G | CA383057274 | HSPA8 | c.1423G>C (p.Glu475Gln) c.1387+36G>C (n.1387+36G>C) c.196G>C (p.Glu66Gln) c.1366G>C (p.Glu456Gln) c.79G>C (p.Glu27Gln) n.1398G>C c.985G>C (p.Glu329Gln) c.715G>C (p.Glu239Gln) | |
11 | g.123058731C>T | CA383057275 | HSPA8 | c.1423G>A (p.Glu475Lys) c.1387+36G>A (n.1387+36G>A) c.196G>A (p.Glu66Lys) c.1366G>A (p.Glu456Lys) c.79G>A (p.Glu27Lys) n.1398G>A c.985G>A (p.Glu329Lys) c.715G>A (p.Glu239Lys) | |
11 | g.123058732A= | CA2005595500 | HSPA8 | c.1422T= (p.Ile474=) c.1387+35T= (n.1387+35T=) c.195T= (p.Ile65=) c.1365T= (p.Ile455=) c.78T= (p.Ile26=) n.1397T= c.984T= (p.Ile328=) c.714T= (p.Ile238=) | |
11 | g.123058732A>C | CA383057276 | HSPA8 | c.1422T>G (p.Ile474Met) c.1387+35T>G (n.1387+35T>G) c.195T>G (p.Ile65Met) c.1365T>G (p.Ile455Met) c.78T>G (p.Ile26Met) n.1397T>G c.984T>G (p.Ile328Met) c.714T>G (p.Ile238Met) | |
11 | g.123058732A>G | CA477385330 | HSPA8 | c.1422T>C (p.Ile474=) c.1387+35T>C (n.1387+35T>C) c.195T>C (p.Ile65=) c.1365T>C (p.Ile455=) c.78T>C (p.Ile26=) n.1397T>C c.984T>C (p.Ile328=) c.714T>C (p.Ile238=) | dbSNP |
11 | g.123058732A>T | CA477385331 | HSPA8 | c.1422T>A (p.Ile474=) c.1387+35T>A (n.1387+35T>A) c.195T>A (p.Ile65=) c.1365T>A (p.Ile455=) c.78T>A (p.Ile26=) n.1397T>A c.984T>A (p.Ile328=) c.714T>A (p.Ile238=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058733A>C | CA383057277 | HSPA8 | c.1421T>G (p.Ile474Ser) c.1387+34T>G (n.1387+34T>G) c.194T>G (p.Ile65Ser) c.1364T>G (p.Ile455Ser) c.77T>G (p.Ile26Ser) n.1396T>G c.983T>G (p.Ile328Ser) c.713T>G (p.Ile238Ser) | |
11 | g.123058733A>G | CA383057278 | HSPA8 | c.1421T>C (p.Ile474Thr) c.1387+34T>C (n.1387+34T>C) c.194T>C (p.Ile65Thr) c.1364T>C (p.Ile455Thr) c.77T>C (p.Ile26Thr) n.1396T>C c.983T>C (p.Ile328Thr) c.713T>C (p.Ile238Thr) | |
11 | g.123058733A>T | CA383057279 | HSPA8 | c.1421T>A (p.Ile474Asn) c.1387+34T>A (n.1387+34T>A) c.194T>A (p.Ile65Asn) c.1364T>A (p.Ile455Asn) c.77T>A (p.Ile26Asn) n.1396T>A c.983T>A (p.Ile328Asn) c.713T>A (p.Ile238Asn) |