Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.123059061G>A | CA229967216 | HSPA8 | c.1321C>T (p.Gln441Ter) c.94C>T (p.Gln32Ter) c.1264C>T (p.Gln422Ter) c.-252C>T (n.-252C>T) n.1068C>T n.423C>T c.883C>T (p.Gln295Ter) c.613C>T (p.Gln205Ter) | dbSNP |
11 | g.123059061G>C | CA383057852 | HSPA8 | c.1321C>G (p.Gln441Glu) c.94C>G (p.Gln32Glu) c.1264C>G (p.Gln422Glu) c.-252C>G (n.-252C>G) n.1068C>G n.423C>G c.883C>G (p.Gln295Glu) c.613C>G (p.Gln205Glu) | |
11 | g.123059061G= | CA2005596651 | HSPA8 | c.1321C= (p.Gln441=) c.94C= (p.Gln32=) c.1264C= (p.Gln422=) c.-252C= (n.-252C=) n.1068C= n.423C= c.883C= (p.Gln295=) c.613C= (p.Gln205=) | |
11 | g.123059061G>T | CA383057853 | HSPA8 | c.1321C>A (p.Gln441Lys) c.94C>A (p.Gln32Lys) c.1264C>A (p.Gln422Lys) c.-252C>A (n.-252C>A) n.1068C>A n.423C>A c.883C>A (p.Gln295Lys) c.613C>A (p.Gln205Lys) | |
11 | g.123059062A>C | CA383057855 | HSPA8 | c.1320T>G (p.Ile440Met) c.93T>G (p.Ile31Met) c.1263T>G (p.Ile421Met) c.-253T>G (n.-253T>G) n.1067T>G n.422T>G c.882T>G (p.Ile294Met) c.612T>G (p.Ile204Met) | |
11 | g.123059062A>G | CA477385641 | HSPA8 | c.1320T>C (p.Ile440=) c.93T>C (p.Ile31=) c.1263T>C (p.Ile421=) c.-253T>C (n.-253T>C) n.1067T>C n.422T>C c.882T>C (p.Ile294=) c.612T>C (p.Ile204=) | |
11 | g.123059062A>T | CA477385642 | HSPA8 | c.1320T>A (p.Ile440=) c.93T>A (p.Ile31=) c.1263T>A (p.Ile421=) c.-253T>A (n.-253T>A) n.1067T>A n.422T>A c.882T>A (p.Ile294=) c.612T>A (p.Ile204=) | |
11 | g.123059063A>C | CA383057858 | HSPA8 | c.1319T>G (p.Ile440Ser) c.92T>G (p.Ile31Ser) c.1262T>G (p.Ile421Ser) c.-254T>G (n.-254T>G) n.1066T>G n.421T>G c.881T>G (p.Ile294Ser) c.611T>G (p.Ile204Ser) | |
11 | g.123059063A>G | CA383057859 | HSPA8 | c.1319T>C (p.Ile440Thr) c.92T>C (p.Ile31Thr) c.1262T>C (p.Ile421Thr) c.-254T>C (n.-254T>C) n.1066T>C n.421T>C c.881T>C (p.Ile294Thr) c.611T>C (p.Ile204Thr) | |
11 | g.123059063A>T | CA383057860 | HSPA8 | c.1319T>A (p.Ile440Asn) c.92T>A (p.Ile31Asn) c.1262T>A (p.Ile421Asn) c.-254T>A (n.-254T>A) n.1066T>A n.421T>A c.881T>A (p.Ile294Asn) c.611T>A (p.Ile204Asn) | |
11 | g.123059064T>A | CA383057863 | HSPA8 | c.1318A>T (p.Ile440Phe) c.91A>T (p.Ile31Phe) c.1261A>T (p.Ile421Phe) c.-255A>T (n.-255A>T) n.1065A>T n.420A>T c.880A>T (p.Ile294Phe) c.610A>T (p.Ile204Phe) | |
11 | g.123059064T>C | CA383057864 | HSPA8 | c.1318A>G (p.Ile440Val) c.91A>G (p.Ile31Val) c.1261A>G (p.Ile421Val) c.-255A>G (n.-255A>G) n.1065A>G n.420A>G c.880A>G (p.Ile294Val) c.610A>G (p.Ile204Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123059064T>G | CA383057865 | HSPA8 | c.1318A>C (p.Ile440Leu) c.91A>C (p.Ile31Leu) c.1261A>C (p.Ile421Leu) c.-255A>C (n.-255A>C) n.1065A>C n.420A>C c.880A>C (p.Ile294Leu) c.610A>C (p.Ile204Leu) | |
11 | g.123059064T= | CA2005596676 | HSPA8 | c.1318A= (p.Ile440=) c.91A= (p.Ile31=) c.1261A= (p.Ile421=) c.-255A= (n.-255A=) n.1065A= n.420A= c.880A= (p.Ile294=) c.610A= (p.Ile204=) | |
11 | g.123059065A>C | CA477385643 | HSPA8 | c.1317T>G (p.Leu439=) c.90T>G (p.Leu30=) c.1260T>G (p.Leu420=) c.-256T>G (n.-256T>G) n.1064T>G n.419T>G c.879T>G (p.Leu293=) c.609T>G (p.Leu203=) | |
11 | g.123059065A>G | CA477385644 | HSPA8 | c.1317T>C (p.Leu439=) c.90T>C (p.Leu30=) c.1260T>C (p.Leu420=) c.-256T>C (n.-256T>C) n.1064T>C n.419T>C c.879T>C (p.Leu293=) c.609T>C (p.Leu203=) | gnomAD v4 |
11 | g.123059065A>T | CA477385645 | HSPA8 | c.1317T>A (p.Leu439=) c.90T>A (p.Leu30=) c.1260T>A (p.Leu420=) c.-256T>A (n.-256T>A) n.1064T>A n.419T>A c.879T>A (p.Leu293=) c.609T>A (p.Leu203=) | |
11 | g.123059066_123059069dup | CA2575011603 | HSPA8 | c.1314_1317dup (p.Ile440AlafsTer6) c.87_90dup (p.Ile31AlafsTer6) c.1257_1260dup (p.Ile421AlafsTer6) c.-259_-256dup (n.-259_-256dup) n.1061_1064dup n.416_419dup c.876_879dup (p.Ile294AlafsTer6) c.606_609dup (p.Ile204AlafsTer6) | |
11 | g.123059066A>C | CA383057869 | HSPA8 | c.1316T>G (p.Leu439Arg) c.89T>G (p.Leu30Arg) c.1259T>G (p.Leu420Arg) c.-257T>G (n.-257T>G) n.1063T>G n.418T>G c.878T>G (p.Leu293Arg) c.608T>G (p.Leu203Arg) | |
11 | g.123059066A>G | CA383057872 | HSPA8 | c.1316T>C (p.Leu439Pro) c.89T>C (p.Leu30Pro) c.1259T>C (p.Leu420Pro) c.-257T>C (n.-257T>C) n.1063T>C n.418T>C c.878T>C (p.Leu293Pro) c.608T>C (p.Leu203Pro) | |
11 | g.123059066A>T | CA383057868 | HSPA8 | c.1316T>A (p.Leu439His) c.89T>A (p.Leu30His) c.1259T>A (p.Leu420His) c.-257T>A (n.-257T>A) n.1063T>A n.418T>A c.878T>A (p.Leu293His) c.608T>A (p.Leu203His) | |
11 | g.123059067G>A | CA383057875 | HSPA8 | c.1315C>T (p.Leu439Phe) c.88C>T (p.Leu30Phe) c.1258C>T (p.Leu420Phe) c.-258C>T (n.-258C>T) n.1062C>T n.417C>T c.877C>T (p.Leu293Phe) c.607C>T (p.Leu203Phe) | |
11 | g.123059067G>C | CA383057876 | HSPA8 | c.1315C>G (p.Leu439Val) c.88C>G (p.Leu30Val) c.1258C>G (p.Leu420Val) c.-258C>G (n.-258C>G) n.1062C>G n.417C>G c.877C>G (p.Leu293Val) c.607C>G (p.Leu203Val) | |
11 | g.123059067G>T | CA383057878 | HSPA8 | c.1315C>A (p.Leu439Ile) c.88C>A (p.Leu30Ile) c.1258C>A (p.Leu420Ile) c.-258C>A (n.-258C>A) n.1062C>A n.417C>A c.877C>A (p.Leu293Ile) c.607C>A (p.Leu203Ile) | |
11 | g.123059068C>A | CA477385647 | HSPA8 | c.1314G>T (p.Val438=) c.87G>T (p.Val29=) c.1257G>T (p.Val419=) c.-259G>T (n.-259G>T) n.1061G>T n.416G>T c.876G>T (p.Val292=) c.606G>T (p.Val202=) | |
11 | g.123059068C= | CA2005596681 | HSPA8 | c.1314G= (p.Val438=) c.87G= (p.Val29=) c.1257G= (p.Val419=) c.-259G= (n.-259G=) n.1061G= n.416G= c.876G= (p.Val292=) c.606G= (p.Val202=) | |
11 | g.123059068C>G | CA477385646 | HSPA8 | c.1314G>C (p.Val438=) c.87G>C (p.Val29=) c.1257G>C (p.Val419=) c.-259G>C (n.-259G>C) n.1061G>C n.416G>C c.876G>C (p.Val292=) c.606G>C (p.Val202=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123059068C>T | CA6332519 | HSPA8 | c.1314G>A (p.Val438=) c.87G>A (p.Val29=) c.1257G>A (p.Val419=) c.-259G>A (n.-259G>A) n.1061G>A n.416G>A c.876G>A (p.Val292=) c.606G>A (p.Val202=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123059069A>C | CA383057881 | HSPA8 | c.1313T>G (p.Val438Gly) c.86T>G (p.Val29Gly) c.1256T>G (p.Val419Gly) c.-260T>G (n.-260T>G) n.1060T>G n.415T>G c.875T>G (p.Val292Gly) c.605T>G (p.Val202Gly) | |
11 | g.123059069A>G | CA383057883 | HSPA8 | c.1313T>C (p.Val438Ala) c.86T>C (p.Val29Ala) c.1256T>C (p.Val419Ala) c.-260T>C (n.-260T>C) n.1060T>C n.415T>C c.875T>C (p.Val292Ala) c.605T>C (p.Val202Ala) | |
11 | g.123059069A>T | CA383057885 | HSPA8 | c.1313T>A (p.Val438Glu) c.86T>A (p.Val29Glu) c.1256T>A (p.Val419Glu) c.-260T>A (n.-260T>A) n.1060T>A n.415T>A c.875T>A (p.Val292Glu) c.605T>A (p.Val202Glu) | |
11 | g.123059070C>A | CA383057886 | HSPA8 | c.1312G>T (p.Val438Leu) c.85G>T (p.Val29Leu) c.1255G>T (p.Val419Leu) c.-261G>T (n.-261G>T) n.1059G>T n.414G>T c.874G>T (p.Val292Leu) c.604G>T (p.Val202Leu) | |
11 | g.123059070C>G | CA383057890 | HSPA8 | c.1312G>C (p.Val438Leu) c.85G>C (p.Val29Leu) c.1255G>C (p.Val419Leu) c.-261G>C (n.-261G>C) n.1059G>C n.414G>C c.874G>C (p.Val292Leu) c.604G>C (p.Val202Leu) | |
11 | g.123059070C>T | CA383057888 | HSPA8 | c.1312G>A (p.Val438Met) c.85G>A (p.Val29Met) c.1255G>A (p.Val419Met) c.-261G>A (n.-261G>A) n.1059G>A n.414G>A c.874G>A (p.Val292Met) c.604G>A (p.Val202Met) | |
11 | g.123059071A= | CA2005596686 | HSPA8 | c.1311T= (p.Gly437=) c.84T= (p.Gly28=) c.1254T= (p.Gly418=) c.-262T= (n.-262T=) n.1058T= n.413T= c.873T= (p.Gly291=) c.603T= (p.Gly201=) | |
11 | g.123059071A>C | CA229967222 | HSPA8 | c.1311T>G (p.Gly437=) c.84T>G (p.Gly28=) c.1254T>G (p.Gly418=) c.-262T>G (n.-262T>G) n.1058T>G n.413T>G c.873T>G (p.Gly291=) c.603T>G (p.Gly201=) | dbSNP gnomAD v4 |
11 | g.123059071A>G | CA477385648 | HSPA8 | c.1311T>C (p.Gly437=) c.84T>C (p.Gly28=) c.1254T>C (p.Gly418=) c.-262T>C (n.-262T>C) n.1058T>C n.413T>C c.873T>C (p.Gly291=) c.603T>C (p.Gly201=) | |
11 | g.123059071A>T | CA477385649 | HSPA8 | c.1311T>A (p.Gly437=) c.84T>A (p.Gly28=) c.1254T>A (p.Gly418=) c.-262T>A (n.-262T>A) n.1058T>A n.413T>A c.873T>A (p.Gly291=) c.603T>A (p.Gly201=) | |
11 | g.123059072C>A | CA383057894 | HSPA8 | c.1310G>T (p.Gly437Val) c.83G>T (p.Gly28Val) c.1253G>T (p.Gly418Val) c.-263G>T (n.-263G>T) n.1057G>T n.412G>T c.872G>T (p.Gly291Val) c.602G>T (p.Gly201Val) | |
11 | g.123059072C>G | CA383057896 | HSPA8 | c.1310G>C (p.Gly437Ala) c.83G>C (p.Gly28Ala) c.1253G>C (p.Gly418Ala) c.-263G>C (n.-263G>C) n.1057G>C n.412G>C c.872G>C (p.Gly291Ala) c.602G>C (p.Gly201Ala) | |
11 | g.123059072C>T | CA383057897 | HSPA8 | c.1310G>A (p.Gly437Asp) c.83G>A (p.Gly28Asp) c.1253G>A (p.Gly418Asp) c.-263G>A (n.-263G>A) n.1057G>A n.412G>A c.872G>A (p.Gly291Asp) c.602G>A (p.Gly201Asp) | |
11 | g.123059073C>A | CA383057900 | HSPA8 | c.1309G>T (p.Gly437Cys) c.82G>T (p.Gly28Cys) c.1252G>T (p.Gly418Cys) c.-264G>T (n.-264G>T) n.1056G>T n.411G>T c.871G>T (p.Gly291Cys) c.601G>T (p.Gly201Cys) | |
11 | g.123059073C>G | CA383057904 | HSPA8 | c.1309G>C (p.Gly437Arg) c.82G>C (p.Gly28Arg) c.1252G>C (p.Gly418Arg) c.-264G>C (n.-264G>C) n.1056G>C n.411G>C c.871G>C (p.Gly291Arg) c.601G>C (p.Gly201Arg) | |
11 | g.123059073C>T | CA383057902 | HSPA8 | c.1309G>A (p.Gly437Ser) c.82G>A (p.Gly28Ser) c.1252G>A (p.Gly418Ser) c.-264G>A (n.-264G>A) n.1056G>A n.411G>A c.871G>A (p.Gly291Ser) c.601G>A (p.Gly201Ser) | |
11 | g.123059074A= | CA2005596691 | HSPA8 | c.1308T= (p.Pro436=) c.81T= (p.Pro27=) c.1251T= (p.Pro417=) c.-265T= (n.-265T=) n.1055T= n.410T= c.870T= (p.Pro290=) c.600T= (p.Pro200=) | |
11 | g.123059074A>C | CA477385650 | HSPA8 | c.1308T>G (p.Pro436=) c.81T>G (p.Pro27=) c.1251T>G (p.Pro417=) c.-265T>G (n.-265T>G) n.1055T>G n.410T>G c.870T>G (p.Pro290=) c.600T>G (p.Pro200=) | |
11 | g.123059074A>G | CA229967225 | HSPA8 | c.1308T>C (p.Pro436=) c.81T>C (p.Pro27=) c.1251T>C (p.Pro417=) c.-265T>C (n.-265T>C) n.1055T>C n.410T>C c.870T>C (p.Pro290=) c.600T>C (p.Pro200=) | dbSNP gnomAD v4 |
11 | g.123059074A>T | CA477385651 | HSPA8 | c.1308T>A (p.Pro436=) c.81T>A (p.Pro27=) c.1251T>A (p.Pro417=) c.-265T>A (n.-265T>A) n.1055T>A n.410T>A c.870T>A (p.Pro290=) c.600T>A (p.Pro200=) | |
11 | g.123059075G>A | CA383057907 | HSPA8 | c.1307C>T (p.Pro436Leu) c.80C>T (p.Pro27Leu) c.1250C>T (p.Pro417Leu) c.-266C>T (n.-266C>T) n.1054C>T n.409C>T c.869C>T (p.Pro290Leu) c.599C>T (p.Pro200Leu) | dbSNP gnomAD v4 |
11 | g.123059075G>C | CA383057909 | HSPA8 | c.1307C>G (p.Pro436Arg) c.80C>G (p.Pro27Arg) c.1250C>G (p.Pro417Arg) c.-266C>G (n.-266C>G) n.1054C>G n.409C>G c.869C>G (p.Pro290Arg) c.599C>G (p.Pro200Arg) | |
11 | g.123059075G>T | CA383057911 | HSPA8 | c.1307C>A (p.Pro436His) c.80C>A (p.Pro27His) c.1250C>A (p.Pro417His) c.-266C>A (n.-266C>A) n.1054C>A n.409C>A c.869C>A (p.Pro290His) c.599C>A (p.Pro200His) | |
11 | g.123059076G>A | CA383057914 | HSPA8 | c.1306C>T (p.Pro436Ser) c.79C>T (p.Pro27Ser) c.1249C>T (p.Pro417Ser) c.-267C>T (n.-267C>T) n.1053C>T n.408C>T c.868C>T (p.Pro290Ser) c.598C>T (p.Pro200Ser) | gnomAD v4 |
11 | g.123059076G>C | CA383057916 | HSPA8 | c.1306C>G (p.Pro436Ala) c.79C>G (p.Pro27Ala) c.1249C>G (p.Pro417Ala) c.-267C>G (n.-267C>G) n.1053C>G n.408C>G c.868C>G (p.Pro290Ala) c.598C>G (p.Pro200Ala) | gnomAD v4 |
11 | g.123059076G>T | CA383057918 | HSPA8 | c.1306C>A (p.Pro436Thr) c.79C>A (p.Pro27Thr) c.1249C>A (p.Pro417Thr) c.-267C>A (n.-267C>A) n.1053C>A n.408C>A c.868C>A (p.Pro290Thr) c.598C>A (p.Pro200Thr) | |
11 | g.123059077C>A | CA383057921 | HSPA8 | c.1305G>T (p.Gln435His) c.78G>T (p.Gln26His) c.1248G>T (p.Gln416His) c.-268G>T (n.-268G>T) n.1052G>T n.407G>T c.867G>T (p.Gln289His) c.597G>T (p.Gln199His) | dbSNP |
11 | g.123059077C= | CA2005596698 | HSPA8 | c.1305G= (p.Gln435=) c.78G= (p.Gln26=) c.1248G= (p.Gln416=) c.-268G= (n.-268G=) n.1052G= n.407G= c.867G= (p.Gln289=) c.597G= (p.Gln199=) | |
11 | g.123059077C>G | CA383057923 | HSPA8 | c.1305G>C (p.Gln435His) c.78G>C (p.Gln26His) c.1248G>C (p.Gln416His) c.-268G>C (n.-268G>C) n.1052G>C n.407G>C c.867G>C (p.Gln289His) c.597G>C (p.Gln199His) | |
11 | g.123059077C>T | CA6332520 | HSPA8 | c.1305G>A (p.Gln435=) c.78G>A (p.Gln26=) c.1248G>A (p.Gln416=) c.-268G>A (n.-268G>A) n.1052G>A n.407G>A c.867G>A (p.Gln289=) c.597G>A (p.Gln199=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123059078T>A | CA383057926 | HSPA8 | c.1304A>T (p.Gln435Leu) c.77A>T (p.Gln26Leu) c.1247A>T (p.Gln416Leu) c.-269A>T (n.-269A>T) n.1051A>T n.406A>T c.866A>T (p.Gln289Leu) c.596A>T (p.Gln199Leu) | |
11 | g.123059078T>C | CA383057927 | HSPA8 | c.1304A>G (p.Gln435Arg) c.77A>G (p.Gln26Arg) c.1247A>G (p.Gln416Arg) c.-269A>G (n.-269A>G) n.1051A>G n.406A>G c.866A>G (p.Gln289Arg) c.596A>G (p.Gln199Arg) | |
11 | g.123059078T>G | CA383057929 | HSPA8 | c.1304A>C (p.Gln435Pro) c.77A>C (p.Gln26Pro) c.1247A>C (p.Gln416Pro) c.-269A>C (n.-269A>C) n.1051A>C n.406A>C c.866A>C (p.Gln289Pro) c.596A>C (p.Gln199Pro) | |
11 | g.123059079G>A | CA383057933 | HSPA8 | c.1303C>T (p.Gln435Ter) c.76C>T (p.Gln26Ter) c.1246C>T (p.Gln416Ter) c.-270C>T (n.-270C>T) n.1050C>T n.405C>T c.865C>T (p.Gln289Ter) c.595C>T (p.Gln199Ter) | |
11 | g.123059079G>C | CA383057935 | HSPA8 | c.1303C>G (p.Gln435Glu) c.76C>G (p.Gln26Glu) c.1246C>G (p.Gln416Glu) c.-270C>G (n.-270C>G) n.1050C>G n.405C>G c.865C>G (p.Gln289Glu) c.595C>G (p.Gln199Glu) | |
11 | g.123059079G>T | CA383057931 | HSPA8 | c.1303C>A (p.Gln435Lys) c.76C>A (p.Gln26Lys) c.1246C>A (p.Gln416Lys) c.-270C>A (n.-270C>A) n.1050C>A n.405C>A c.865C>A (p.Gln289Lys) c.595C>A (p.Gln199Lys) | |
11 | g.123059080G>A | CA477385655 | HSPA8 | c.1302C>T (p.Asn434=) c.75C>T (p.Asn25=) c.1245C>T (p.Asn415=) c.-271C>T (n.-271C>T) n.1049C>T n.404C>T c.864C>T (p.Asn288=) c.594C>T (p.Asn198=) | |
11 | g.123059080G>C | CA383057939 | HSPA8 | c.1302C>G (p.Asn434Lys) c.75C>G (p.Asn25Lys) c.1245C>G (p.Asn415Lys) c.-271C>G (n.-271C>G) n.1049C>G n.404C>G c.864C>G (p.Asn288Lys) c.594C>G (p.Asn198Lys) | |
11 | g.123059080G>T | CA383057937 | HSPA8 | c.1302C>A (p.Asn434Lys) c.75C>A (p.Asn25Lys) c.1245C>A (p.Asn415Lys) c.-271C>A (n.-271C>A) n.1049C>A n.404C>A c.864C>A (p.Asn288Lys) c.594C>A (p.Asn198Lys) | |
11 | g.123059081T>A | CA383057941 | HSPA8 | c.1301A>T (p.Asn434Ile) c.74A>T (p.Asn25Ile) c.1244A>T (p.Asn415Ile) c.-272A>T (n.-272A>T) n.1048A>T n.403A>T c.863A>T (p.Asn288Ile) c.593A>T (p.Asn198Ile) | |
11 | g.123059081T>C | CA6332521 | HSPA8 | c.1301A>G (p.Asn434Ser) c.74A>G (p.Asn25Ser) c.1244A>G (p.Asn415Ser) c.-272A>G (n.-272A>G) n.1048A>G n.403A>G c.863A>G (p.Asn288Ser) c.593A>G (p.Asn198Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123059081T>G | CA383057943 | HSPA8 | c.1301A>C (p.Asn434Thr) c.74A>C (p.Asn25Thr) c.1244A>C (p.Asn415Thr) c.-272A>C (n.-272A>C) n.1048A>C n.403A>C c.863A>C (p.Asn288Thr) c.593A>C (p.Asn198Thr) | gnomAD v4 |
11 | g.123059081T= | CA2005596704 | HSPA8 | c.1301A= (p.Asn434=) c.74A= (p.Asn25=) c.1244A= (p.Asn415=) c.-272A= (n.-272A=) n.1048A= n.403A= c.863A= (p.Asn288=) c.593A= (p.Asn198=) | |
11 | g.123059082T>A | CA383057945 | HSPA8 | c.1300A>T (p.Asn434Tyr) c.73A>T (p.Asn25Tyr) c.1243A>T (p.Asn415Tyr) c.-273A>T (n.-273A>T) n.1047A>T n.402A>T c.862A>T (p.Asn288Tyr) c.592A>T (p.Asn198Tyr) | |
11 | g.123059082T>C | CA383057949 | HSPA8 | c.1300A>G (p.Asn434Asp) c.73A>G (p.Asn25Asp) c.1243A>G (p.Asn415Asp) c.-273A>G (n.-273A>G) n.1047A>G n.402A>G c.862A>G (p.Asn288Asp) c.592A>G (p.Asn198Asp) | gnomAD v4 |
11 | g.123059082T>G | CA383057947 | HSPA8 | c.1300A>C (p.Asn434His) c.73A>C (p.Asn25His) c.1243A>C (p.Asn415His) c.-273A>C (n.-273A>C) n.1047A>C n.402A>C c.862A>C (p.Asn288His) c.592A>C (p.Asn198His) | |
11 | g.123059083G>A | CA6332522 | HSPA8 | c.1299C>T (p.Asp433=) c.72C>T (p.Asp24=) c.1242C>T (p.Asp414=) c.-274C>T (n.-274C>T) n.1046C>T n.401C>T c.861C>T (p.Asp287=) c.591C>T (p.Asp197=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.123059083G>C | CA383057954 | HSPA8 | c.1299C>G (p.Asp433Glu) c.72C>G (p.Asp24Glu) c.1242C>G (p.Asp414Glu) c.-274C>G (n.-274C>G) n.1046C>G n.401C>G c.861C>G (p.Asp287Glu) c.591C>G (p.Asp197Glu) | |
11 | g.123059083G= | CA2005596718 | HSPA8 | c.1299C= (p.Asp433=) c.72C= (p.Asp24=) c.1242C= (p.Asp414=) c.-274C= (n.-274C=) n.1046C= n.401C= c.861C= (p.Asp287=) c.591C= (p.Asp197=) | |
11 | g.123059083G>T | CA383057952 | HSPA8 | c.1299C>A (p.Asp433Glu) c.72C>A (p.Asp24Glu) c.1242C>A (p.Asp414Glu) c.-274C>A (n.-274C>A) n.1046C>A n.401C>A c.861C>A (p.Asp287Glu) c.591C>A (p.Asp197Glu) | |
11 | g.123059084T>A | CA383057957 | HSPA8 | c.1298A>T (p.Asp433Val) c.71A>T (p.Asp24Val) c.1241A>T (p.Asp414Val) c.-275A>T (n.-275A>T) n.1045A>T n.400A>T c.860A>T (p.Asp287Val) c.590A>T (p.Asp197Val) | |
11 | g.123059084T>C | CA383057959 | HSPA8 | c.1298A>G (p.Asp433Gly) c.71A>G (p.Asp24Gly) c.1241A>G (p.Asp414Gly) c.-275A>G (n.-275A>G) n.1045A>G n.400A>G c.860A>G (p.Asp287Gly) c.590A>G (p.Asp197Gly) | COSMIC |
11 | g.123059084T>G | CA383057960 | HSPA8 | c.1298A>C (p.Asp433Ala) c.71A>C (p.Asp24Ala) c.1241A>C (p.Asp414Ala) c.-275A>C (n.-275A>C) n.1045A>C n.400A>C c.860A>C (p.Asp287Ala) c.590A>C (p.Asp197Ala) | |
11 | g.123059085C>A | CA383057961 | HSPA8 | c.1297G>T (p.Asp433Tyr) c.70G>T (p.Asp24Tyr) c.1240G>T (p.Asp414Tyr) c.-276G>T (n.-276G>T) n.1044G>T n.399G>T c.859G>T (p.Asp287Tyr) c.589G>T (p.Asp197Tyr) | |
11 | g.123059085C>G | CA383057963 | HSPA8 | c.1297G>C (p.Asp433His) c.70G>C (p.Asp24His) c.1240G>C (p.Asp414His) c.-276G>C (n.-276G>C) n.1044G>C n.399G>C c.859G>C (p.Asp287His) c.589G>C (p.Asp197His) | |
11 | g.123059085C>T | CA383057965 | HSPA8 | c.1297G>A (p.Asp433Asn) c.70G>A (p.Asp24Asn) c.1240G>A (p.Asp414Asn) c.-276G>A (n.-276G>A) n.1044G>A n.399G>A c.859G>A (p.Asp287Asn) c.589G>A (p.Asp197Asn) | gnomAD v4 |
11 | g.123059086A= | CA2005596740 | HSPA8 | c.1296T= (p.Ser432=) c.69T= (p.Ser23=) c.1239T= (p.Ser413=) c.-277T= (n.-277T=) n.1043T= n.398T= c.858T= (p.Ser286=) c.588T= (p.Ser196=) | |
11 | g.123059086A>C | CA477385661 | HSPA8 | c.1296T>G (p.Ser432=) c.69T>G (p.Ser23=) c.1239T>G (p.Ser413=) c.-277T>G (n.-277T>G) n.1043T>G n.398T>G c.858T>G (p.Ser286=) c.588T>G (p.Ser196=) | |
11 | g.123059086A>G | CA477385662 | HSPA8 | c.1296T>C (p.Ser432=) c.69T>C (p.Ser23=) c.1239T>C (p.Ser413=) c.-277T>C (n.-277T>C) n.1043T>C n.398T>C c.858T>C (p.Ser286=) c.588T>C (p.Ser196=) | |
11 | g.123059086A>T | CA477385663 | HSPA8 | c.1296T>A (p.Ser432=) c.69T>A (p.Ser23=) c.1239T>A (p.Ser413=) c.-277T>A (n.-277T>A) n.1043T>A n.398T>A c.858T>A (p.Ser286=) c.588T>A (p.Ser196=) | dbSNP |
11 | g.123059087G>A | CA383057967 | HSPA8 | c.1295C>T (p.Ser432Phe) c.68C>T (p.Ser23Phe) c.1238C>T (p.Ser413Phe) c.-278C>T (n.-278C>T) n.1042C>T n.397C>T c.857C>T (p.Ser286Phe) c.587C>T (p.Ser196Phe) | |
11 | g.123059087G>C | CA383057969 | HSPA8 | c.1295C>G (p.Ser432Cys) c.68C>G (p.Ser23Cys) c.1238C>G (p.Ser413Cys) c.-278C>G (n.-278C>G) n.1042C>G n.397C>G c.857C>G (p.Ser286Cys) c.587C>G (p.Ser196Cys) | gnomAD v4 |
11 | g.123059087G>T | CA383057970 | HSPA8 | c.1295C>A (p.Ser432Tyr) c.68C>A (p.Ser23Tyr) c.1238C>A (p.Ser413Tyr) c.-278C>A (n.-278C>A) n.1042C>A n.397C>A c.857C>A (p.Ser286Tyr) c.587C>A (p.Ser196Tyr) | |
11 | g.123059088A>C | CA383057973 | HSPA8 | c.1294T>G (p.Ser432Ala) c.67T>G (p.Ser23Ala) c.1237T>G (p.Ser413Ala) c.-279T>G (n.-279T>G) n.1041T>G n.396T>G c.856T>G (p.Ser286Ala) c.586T>G (p.Ser196Ala) | |
11 | g.123059088A>G | CA383057975 | HSPA8 | c.1294T>C (p.Ser432Pro) c.67T>C (p.Ser23Pro) c.1237T>C (p.Ser413Pro) c.-279T>C (n.-279T>C) n.1041T>C n.396T>C c.856T>C (p.Ser286Pro) c.586T>C (p.Ser196Pro) | |
11 | g.123059088A>T | CA383057977 | HSPA8 | c.1294T>A (p.Ser432Thr) c.67T>A (p.Ser23Thr) c.1237T>A (p.Ser413Thr) c.-279T>A (n.-279T>A) n.1041T>A n.396T>A c.856T>A (p.Ser286Thr) c.586T>A (p.Ser196Thr) | |
11 | g.123059089A>C | CA383057979 | HSPA8 | c.1293T>G (p.Tyr431Ter) c.66T>G (p.Tyr22Ter) c.1236T>G (p.Tyr412Ter) c.-280T>G (n.-280T>G) n.1040T>G n.395T>G c.855T>G (p.Tyr285Ter) c.585T>G (p.Tyr195Ter) | |
11 | g.123059089A>G | CA477385667 | HSPA8 | c.1293T>C (p.Tyr431=) c.66T>C (p.Tyr22=) c.1236T>C (p.Tyr412=) c.-280T>C (n.-280T>C) n.1040T>C n.395T>C c.855T>C (p.Tyr285=) c.585T>C (p.Tyr195=) | gnomAD v4 |
11 | g.123059089A>T | CA383057980 | HSPA8 | c.1293T>A (p.Tyr431Ter) c.66T>A (p.Tyr22Ter) c.1236T>A (p.Tyr412Ter) c.-280T>A (n.-280T>A) n.1040T>A n.395T>A c.855T>A (p.Tyr285Ter) c.585T>A (p.Tyr195Ter) | |
11 | g.123059090T>A | CA383057983 | HSPA8 | c.1292A>T (p.Tyr431Phe) c.65A>T (p.Tyr22Phe) c.1235A>T (p.Tyr412Phe) c.-281A>T (n.-281A>T) n.1039A>T n.394A>T c.854A>T (p.Tyr285Phe) c.584A>T (p.Tyr195Phe) | |
11 | g.123059090T>C | CA383057985 | HSPA8 | c.1292A>G (p.Tyr431Cys) c.65A>G (p.Tyr22Cys) c.1235A>G (p.Tyr412Cys) c.-281A>G (n.-281A>G) n.1039A>G n.394A>G c.854A>G (p.Tyr285Cys) c.584A>G (p.Tyr195Cys) | |
11 | g.123059090T>G | CA383057988 | HSPA8 | c.1292A>C (p.Tyr431Ser) c.65A>C (p.Tyr22Ser) c.1235A>C (p.Tyr412Ser) c.-281A>C (n.-281A>C) n.1039A>C n.394A>C c.854A>C (p.Tyr285Ser) c.584A>C (p.Tyr195Ser) | |
11 | g.123059091A>C | CA383057990 | HSPA8 | c.1291T>G (p.Tyr431Asp) c.64T>G (p.Tyr22Asp) c.1234T>G (p.Tyr412Asp) c.-282T>G (n.-282T>G) n.1038T>G n.393T>G c.853T>G (p.Tyr285Asp) c.583T>G (p.Tyr195Asp) | |
11 | g.123059091A>G | CA383057992 | HSPA8 | c.1291T>C (p.Tyr431His) c.64T>C (p.Tyr22His) c.1234T>C (p.Tyr412His) c.-282T>C (n.-282T>C) n.1038T>C n.393T>C c.853T>C (p.Tyr285His) c.583T>C (p.Tyr195His) | |
11 | g.123059091A>T | CA383057994 | HSPA8 | c.1291T>A (p.Tyr431Asn) c.64T>A (p.Tyr22Asn) c.1234T>A (p.Tyr412Asn) c.-282T>A (n.-282T>A) n.1038T>A n.393T>A c.853T>A (p.Tyr285Asn) c.583T>A (p.Tyr195Asn) | |
11 | g.123059092G>A | CA477385670 | HSPA8 | c.1290C>T (p.Thr430=) c.63C>T (p.Thr21=) c.1233C>T (p.Thr411=) c.-283C>T (n.-283C>T) n.1037C>T n.392C>T c.852C>T (p.Thr284=) c.582C>T (p.Thr194=) | dbSNP gnomAD v4 |
11 | g.123059092G>C | CA6332523 | HSPA8 | c.1290C>G (p.Thr430=) c.63C>G (p.Thr21=) c.1233C>G (p.Thr411=) c.-283C>G (n.-283C>G) n.1037C>G n.392C>G c.852C>G (p.Thr284=) c.582C>G (p.Thr194=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.123059092G= | CA2005596744 | HSPA8 | c.1290C= (p.Thr430=) c.63C= (p.Thr21=) c.1233C= (p.Thr411=) c.-283C= (n.-283C=) n.1037C= n.392C= c.852C= (p.Thr284=) c.582C= (p.Thr194=) | |
11 | g.123059092G>T | CA477385671 | HSPA8 | c.1290C>A (p.Thr430=) c.63C>A (p.Thr21=) c.1233C>A (p.Thr411=) c.-283C>A (n.-283C>A) n.1037C>A n.392C>A c.852C>A (p.Thr284=) c.582C>A (p.Thr194=) | |
11 | g.123059093G>A | CA383057997 | HSPA8 | c.1289C>T (p.Thr430Ile) c.62C>T (p.Thr21Ile) c.1232C>T (p.Thr411Ile) c.-284C>T (n.-284C>T) n.1036C>T n.391C>T c.851C>T (p.Thr284Ile) c.581C>T (p.Thr194Ile) | |
11 | g.123059093G>C | CA383057999 | HSPA8 | c.1289C>G (p.Thr430Ser) c.62C>G (p.Thr21Ser) c.1232C>G (p.Thr411Ser) c.-284C>G (n.-284C>G) n.1036C>G n.391C>G c.851C>G (p.Thr284Ser) c.581C>G (p.Thr194Ser) | |
11 | g.123059093G>T | CA383058001 | HSPA8 | c.1289C>A (p.Thr430Asn) c.62C>A (p.Thr21Asn) c.1232C>A (p.Thr411Asn) c.-284C>A (n.-284C>A) n.1036C>A n.391C>A c.851C>A (p.Thr284Asn) c.581C>A (p.Thr194Asn) | |
11 | g.123059094T>A | CA383058005 | HSPA8 | c.1288A>T (p.Thr430Ser) c.61A>T (p.Thr21Ser) c.1231A>T (p.Thr411Ser) c.-285A>T (n.-285A>T) n.1035A>T n.390A>T c.850A>T (p.Thr284Ser) c.580A>T (p.Thr194Ser) | |
11 | g.123059094T>C | CA383058007 | HSPA8 | c.1288A>G (p.Thr430Ala) c.61A>G (p.Thr21Ala) c.1231A>G (p.Thr411Ala) c.-285A>G (n.-285A>G) n.1035A>G n.390A>G c.850A>G (p.Thr284Ala) c.580A>G (p.Thr194Ala) | |
11 | g.123059094T>G | CA383058003 | HSPA8 | c.1288A>C (p.Thr430Pro) c.61A>C (p.Thr21Pro) c.1231A>C (p.Thr411Pro) c.-285A>C (n.-285A>C) n.1035A>C n.390A>C c.850A>C (p.Thr284Pro) c.580A>C (p.Thr194Pro) | |
11 | g.123059095A= | CA2005596749 | HSPA8 | c.1287T= (p.Thr429=) c.60T= (p.Thr20=) c.1230T= (p.Thr410=) c.-286T= (n.-286T=) n.1034T= n.389T= c.849T= (p.Thr283=) c.579T= (p.Thr193=) | |
11 | g.123059095A>C | CA477385677 | HSPA8 | c.1287T>G (p.Thr429=) c.60T>G (p.Thr20=) c.1230T>G (p.Thr410=) c.-286T>G (n.-286T>G) n.1034T>G n.389T>G c.849T>G (p.Thr283=) c.579T>G (p.Thr193=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123059095A>G | CA477385676 | HSPA8 | c.1287T>C (p.Thr429=) c.60T>C (p.Thr20=) c.1230T>C (p.Thr410=) c.-286T>C (n.-286T>C) n.1034T>C n.389T>C c.849T>C (p.Thr283=) c.579T>C (p.Thr193=) | |
11 | g.123059095A>T | CA477385675 | HSPA8 | c.1287T>A (p.Thr429=) c.60T>A (p.Thr20=) c.1230T>A (p.Thr410=) c.-286T>A (n.-286T>A) n.1034T>A n.389T>A c.849T>A (p.Thr283=) c.579T>A (p.Thr193=) | |
11 | g.123059096G>A | CA383058010 | HSPA8 | c.1286C>T (p.Thr429Ile) c.59C>T (p.Thr20Ile) c.1229C>T (p.Thr410Ile) c.-287C>T (n.-287C>T) n.1033C>T n.388C>T c.848C>T (p.Thr283Ile) c.578C>T (p.Thr193Ile) | |
11 | g.123059096G>C | CA383058012 | HSPA8 | c.1286C>G (p.Thr429Ser) c.59C>G (p.Thr20Ser) c.1229C>G (p.Thr410Ser) c.-287C>G (n.-287C>G) n.1033C>G n.388C>G c.848C>G (p.Thr283Ser) c.578C>G (p.Thr193Ser) | dbSNP |
11 | g.123059096G= | CA2005596757 | HSPA8 | c.1286C= (p.Thr429=) c.59C= (p.Thr20=) c.1229C= (p.Thr410=) c.-287C= (n.-287C=) n.1033C= n.388C= c.848C= (p.Thr283=) c.578C= (p.Thr193=) | |
11 | g.123059096G>T | CA383058014 | HSPA8 | c.1286C>A (p.Thr429Asn) c.59C>A (p.Thr20Asn) c.1229C>A (p.Thr410Asn) c.-287C>A (n.-287C>A) n.1033C>A n.388C>A c.848C>A (p.Thr283Asn) c.578C>A (p.Thr193Asn) | |
11 | g.123059097T>A | CA383058016 | HSPA8 | c.1285A>T (p.Thr429Ser) c.58A>T (p.Thr20Ser) c.1228A>T (p.Thr410Ser) c.-288A>T (n.-288A>T) n.1032A>T n.387A>T c.847A>T (p.Thr283Ser) c.577A>T (p.Thr193Ser) | |
11 | g.123059097T>C | CA383058018 | HSPA8 | c.1285A>G (p.Thr429Ala) c.58A>G (p.Thr20Ala) c.1228A>G (p.Thr410Ala) c.-288A>G (n.-288A>G) n.1032A>G n.387A>G c.847A>G (p.Thr283Ala) c.577A>G (p.Thr193Ala) | |
11 | g.123059097T>G | CA383058020 | HSPA8 | c.1285A>C (p.Thr429Pro) c.58A>C (p.Thr20Pro) c.1228A>C (p.Thr410Pro) c.-288A>C (n.-288A>C) n.1032A>C n.387A>C c.847A>C (p.Thr283Pro) c.577A>C (p.Thr193Pro) | |
11 | g.123059098G>A | CA477385679 | HSPA8 | c.1284C>T (p.Phe428=) c.57C>T (p.Phe19=) c.1227C>T (p.Phe409=) n.1031C>T n.386C>T c.846C>T (p.Phe282=) c.576C>T (p.Phe192=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123059098G>C | CA383058023 | HSPA8 | c.1284C>G (p.Phe428Leu) c.57C>G (p.Phe19Leu) c.1227C>G (p.Phe409Leu) n.1031C>G n.386C>G c.846C>G (p.Phe282Leu) c.576C>G (p.Phe192Leu) | |
11 | g.123059098G= | CA2005596775 | HSPA8 | c.1284C= (p.Phe428=) c.57C= (p.Phe19=) c.1227C= (p.Phe409=) n.1031C= n.386C= c.846C= (p.Phe282=) c.576C= (p.Phe192=) | |
11 | g.123059098G>T | CA383058022 | HSPA8 | c.1284C>A (p.Phe428Leu) c.57C>A (p.Phe19Leu) c.1227C>A (p.Phe409Leu) n.1031C>A n.386C>A c.846C>A (p.Phe282Leu) c.576C>A (p.Phe192Leu) | |
11 | g.123059099A>C | CA383058026 | HSPA8 | c.1283T>G (p.Phe428Cys) c.56T>G (p.Phe19Cys) c.1226T>G (p.Phe409Cys) n.1030T>G n.385T>G c.845T>G (p.Phe282Cys) c.575T>G (p.Phe192Cys) | |
11 | g.123059099A>G | CA383058028 | HSPA8 | c.1283T>C (p.Phe428Ser) c.56T>C (p.Phe19Ser) c.1226T>C (p.Phe409Ser) n.1030T>C n.385T>C c.845T>C (p.Phe282Ser) c.575T>C (p.Phe192Ser) | |
11 | g.123059099A>T | CA383058029 | HSPA8 | c.1283T>A (p.Phe428Tyr) c.56T>A (p.Phe19Tyr) c.1226T>A (p.Phe409Tyr) n.1030T>A n.385T>A c.845T>A (p.Phe282Tyr) c.575T>A (p.Phe192Tyr) | |
11 | g.123059100A>C | CA383058032 | HSPA8 | c.1282T>G (p.Phe428Val) c.55T>G (p.Phe19Val) c.1225T>G (p.Phe409Val) n.1029T>G n.384T>G c.844T>G (p.Phe282Val) c.574T>G (p.Phe192Val) | |
11 | g.123059100A>G | CA383058034 | HSPA8 | c.1282T>C (p.Phe428Leu) c.55T>C (p.Phe19Leu) c.1225T>C (p.Phe409Leu) n.1029T>C n.384T>C c.844T>C (p.Phe282Leu) c.574T>C (p.Phe192Leu) | |
11 | g.123059100A>T | CA383058035 | HSPA8 | c.1282T>A (p.Phe428Ile) c.55T>A (p.Phe19Ile) c.1225T>A (p.Phe409Ile) n.1029T>A n.384T>A c.844T>A (p.Phe282Ile) c.574T>A (p.Phe192Ile) | |
11 | g.123059101G>A | CA477385682 | HSPA8 | c.1281C>T (p.Thr427=) c.54C>T (p.Thr18=) c.1224C>T (p.Thr408=) n.1028C>T n.383C>T c.843C>T (p.Thr281=) c.573C>T (p.Thr191=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123059101G>C | CA477385683 | HSPA8 | c.1281C>G (p.Thr427=) c.54C>G (p.Thr18=) c.1224C>G (p.Thr408=) n.1028C>G n.383C>G c.843C>G (p.Thr281=) c.573C>G (p.Thr191=) | gnomAD v4 |
11 | g.123059101G= | CA2005596798 | HSPA8 | c.1281C= (p.Thr427=) c.54C= (p.Thr18=) c.1224C= (p.Thr408=) n.1028C= n.383C= c.843C= (p.Thr281=) c.573C= (p.Thr191=) | |
11 | g.123059101G>T | CA477385685 | HSPA8 | c.1281C>A (p.Thr427=) c.54C>A (p.Thr18=) c.1224C>A (p.Thr408=) n.1028C>A n.383C>A c.843C>A (p.Thr281=) c.573C>A (p.Thr191=) | gnomAD v4 |
11 | g.123059102G>A | CA6332524 | HSPA8 | c.1280C>T (p.Thr427Ile) c.53C>T (p.Thr18Ile) c.1223C>T (p.Thr408Ile) n.1027C>T n.382C>T c.842C>T (p.Thr281Ile) c.572C>T (p.Thr191Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.123059102G>C | CA383058040 | HSPA8 | c.1280C>G (p.Thr427Ser) c.53C>G (p.Thr18Ser) c.1223C>G (p.Thr408Ser) n.1027C>G n.382C>G c.842C>G (p.Thr281Ser) c.572C>G (p.Thr191Ser) | |
11 | g.123059102G= | CA2005596802 | HSPA8 | c.1280C= (p.Thr427=) c.53C= (p.Thr18=) c.1223C= (p.Thr408=) n.1027C= n.382C= c.842C= (p.Thr281=) c.572C= (p.Thr191=) | |
11 | g.123059102G>T | CA383058038 | HSPA8 | c.1280C>A (p.Thr427Asn) c.53C>A (p.Thr18Asn) c.1223C>A (p.Thr408Asn) n.1027C>A n.382C>A c.842C>A (p.Thr281Asn) c.572C>A (p.Thr191Asn) | |
11 | g.123059103T>A | CA383058042 | HSPA8 | c.1279A>T (p.Thr427Ser) c.52A>T (p.Thr18Ser) c.1222A>T (p.Thr408Ser) n.1026A>T n.381A>T c.841A>T (p.Thr281Ser) c.571A>T (p.Thr191Ser) | |
11 | g.123059103T>C | CA383058044 | HSPA8 | c.1279A>G (p.Thr427Ala) c.52A>G (p.Thr18Ala) c.1222A>G (p.Thr408Ala) n.1026A>G n.381A>G c.841A>G (p.Thr281Ala) c.571A>G (p.Thr191Ala) | |
11 | g.123059103T>G | CA383058046 | HSPA8 | c.1279A>C (p.Thr427Pro) c.52A>C (p.Thr18Pro) c.1222A>C (p.Thr408Pro) n.1026A>C n.381A>C c.841A>C (p.Thr281Pro) c.571A>C (p.Thr191Pro) | |
11 | g.123059104C>A | CA383058048 | HSPA8 | c.1278G>T (p.Gln426His) c.51G>T (p.Gln17His) c.1221G>T (p.Gln407His) n.1025G>T n.381-1G>T c.840G>T (p.Gln280His) c.570G>T (p.Gln190His) | |
11 | g.123059104C>G | CA383058049 | HSPA8 | c.1278G>C (p.Gln426His) c.51G>C (p.Gln17His) c.1221G>C (p.Gln407His) n.1025G>C n.381-1G>C c.840G>C (p.Gln280His) c.570G>C (p.Gln190His) | |
11 | g.123059104C>T | CA477385689 | HSPA8 | c.1278G>A (p.Gln426=) c.51G>A (p.Gln17=) c.1221G>A (p.Gln407=) n.1025G>A n.381-1G>A c.840G>A (p.Gln280=) c.570G>A (p.Gln190=) | gnomAD v4 |
11 | g.123059105T>A | CA383058051 | HSPA8 | c.1277A>T (p.Gln426Leu) c.50A>T (p.Gln17Leu) c.1220A>T (p.Gln407Leu) n.1024A>T n.381-2A>T c.839A>T (p.Gln280Leu) c.569A>T (p.Gln190Leu) | |
11 | g.123059105T>C | CA383058052 | HSPA8 | c.1277A>G (p.Gln426Arg) c.50A>G (p.Gln17Arg) c.1220A>G (p.Gln407Arg) n.1024A>G n.381-2A>G c.839A>G (p.Gln280Arg) c.569A>G (p.Gln190Arg) | |
11 | g.123059105T>G | CA383058054 | HSPA8 | c.1277A>C (p.Gln426Pro) c.50A>C (p.Gln17Pro) c.1220A>C (p.Gln407Pro) n.1024A>C n.381-2A>C c.839A>C (p.Gln280Pro) c.569A>C (p.Gln190Pro) | |
11 | g.123059106G>A | CA383058058 | HSPA8 | c.1276C>T (p.Gln426Ter) c.49C>T (p.Gln17Ter) c.1219C>T (p.Gln407Ter) n.1023C>T n.381-3C>T c.838C>T (p.Gln280Ter) c.568C>T (p.Gln190Ter) | |
11 | g.123059106G>C | CA383058060 | HSPA8 | c.1276C>G (p.Gln426Glu) c.49C>G (p.Gln17Glu) c.1219C>G (p.Gln407Glu) n.1023C>G n.381-3C>G c.838C>G (p.Gln280Glu) c.568C>G (p.Gln190Glu) | |
11 | g.123059106G>T | CA383058061 | HSPA8 | c.1276C>A (p.Gln426Lys) c.49C>A (p.Gln17Lys) c.1219C>A (p.Gln407Lys) n.1023C>A n.381-3C>A c.838C>A (p.Gln280Lys) c.568C>A (p.Gln190Lys) | |
11 | g.123059107T>A | CA477385693 | HSPA8 | c.1275A>T (p.Thr425=) c.48A>T (p.Thr16=) c.1218A>T (p.Thr406=) n.1022A>T n.381-4A>T c.837A>T (p.Thr279=) c.567A>T (p.Thr189=) | |
11 | g.123059107T>C | CA477385692 | HSPA8 | c.1275A>G (p.Thr425=) c.48A>G (p.Thr16=) c.1218A>G (p.Thr406=) n.1022A>G n.381-4A>G c.837A>G (p.Thr279=) c.567A>G (p.Thr189=) | gnomAD v4 |
11 | g.123059107T>G | CA477385691 | HSPA8 | c.1275A>C (p.Thr425=) c.48A>C (p.Thr16=) c.1218A>C (p.Thr406=) n.1022A>C n.381-4A>C c.837A>C (p.Thr279=) c.567A>C (p.Thr189=) | dbSNP |
11 | g.123059107T= | CA2005596805 | HSPA8 | c.1275A= (p.Thr425=) c.48A= (p.Thr16=) c.1218A= (p.Thr406=) n.1022A= n.381-4A= c.837A= (p.Thr279=) c.567A= (p.Thr189=) | |
11 | g.123059108G>A | CA383058068 | HSPA8 | c.1274C>T (p.Thr425Ile) c.47C>T (p.Thr16Ile) c.1217C>T (p.Thr406Ile) n.1021C>T n.381-5C>T c.836C>T (p.Thr279Ile) c.566C>T (p.Thr189Ile) | |
11 | g.123059108G>C | CA383058066 | HSPA8 | c.1274C>G (p.Thr425Arg) c.47C>G (p.Thr16Arg) c.1217C>G (p.Thr406Arg) n.1021C>G n.381-5C>G c.836C>G (p.Thr279Arg) c.566C>G (p.Thr189Arg) | |
11 | g.123059108G>T | CA383058064 | HSPA8 | c.1274C>A (p.Thr425Lys) c.47C>A (p.Thr16Lys) c.1217C>A (p.Thr406Lys) n.1021C>A n.381-5C>A c.836C>A (p.Thr279Lys) c.566C>A (p.Thr189Lys) | |
11 | g.123059109T>A | CA383058070 | HSPA8 | c.1273A>T (p.Thr425Ser) c.46A>T (p.Thr16Ser) c.1216A>T (p.Thr406Ser) n.1020A>T n.381-6A>T c.835A>T (p.Thr279Ser) c.565A>T (p.Thr189Ser) | |
11 | g.123059109T>C | CA383058074 | HSPA8 | c.1273A>G (p.Thr425Ala) c.46A>G (p.Thr16Ala) c.1216A>G (p.Thr406Ala) n.1020A>G n.381-6A>G c.835A>G (p.Thr279Ala) c.565A>G (p.Thr189Ala) | |
11 | g.123059109T>G | CA383058072 | HSPA8 | c.1273A>C (p.Thr425Pro) c.46A>C (p.Thr16Pro) c.1216A>C (p.Thr406Pro) n.1020A>C n.381-6A>C c.835A>C (p.Thr279Pro) c.565A>C (p.Thr189Pro) | |
11 | g.123059110C>A | CA383058076 | HSPA8 | c.1272G>T (p.Gln424His) c.45G>T (p.Gln15His) c.1215G>T (p.Gln405His) n.1019G>T n.381-7G>T c.834G>T (p.Gln278His) c.564G>T (p.Gln188His) | |
11 | g.123059110C>G | CA383058078 | HSPA8 | c.1272G>C (p.Gln424His) c.45G>C (p.Gln15His) c.1215G>C (p.Gln405His) n.1019G>C n.381-7G>C c.834G>C (p.Gln278His) c.564G>C (p.Gln188His) | |
11 | g.123059110C>T | CA477385696 | HSPA8 | c.1272G>A (p.Gln424=) c.45G>A (p.Gln15=) c.1215G>A (p.Gln405=) n.1019G>A n.381-7G>A c.834G>A (p.Gln278=) c.564G>A (p.Gln188=) | |
11 | g.123059111T>A | CA383058080 | HSPA8 | c.1271A>T (p.Gln424Leu) c.44A>T (p.Gln15Leu) c.1214A>T (p.Gln405Leu) n.1018A>T n.381-8A>T c.833A>T (p.Gln278Leu) c.563A>T (p.Gln188Leu) | |
11 | g.123059111T>C | CA383058082 | HSPA8 | c.1271A>G (p.Gln424Arg) c.44A>G (p.Gln15Arg) c.1214A>G (p.Gln405Arg) n.1018A>G n.381-8A>G c.833A>G (p.Gln278Arg) c.563A>G (p.Gln188Arg) | |
11 | g.123059111T>G | CA383058084 | HSPA8 | c.1271A>C (p.Gln424Pro) c.44A>C (p.Gln15Pro) c.1214A>C (p.Gln405Pro) n.1018A>C n.381-8A>C c.833A>C (p.Gln278Pro) c.563A>C (p.Gln188Pro) | |
11 | g.123059112G>A | CA383058087 | HSPA8 | c.1270C>T (p.Gln424Ter) c.43C>T (p.Gln15Ter) c.1213C>T (p.Gln405Ter) n.1017C>T n.381-9C>T c.832C>T (p.Gln278Ter) c.562C>T (p.Gln188Ter) | |
11 | g.123059112G>C | CA383058089 | HSPA8 | c.1270C>G (p.Gln424Glu) c.43C>G (p.Gln15Glu) c.1213C>G (p.Gln405Glu) n.1017C>G n.381-9C>G c.832C>G (p.Gln278Glu) c.562C>G (p.Gln188Glu) | |
11 | g.123059112G= | CA2005596810 | HSPA8 | c.1270C= (p.Gln424=) c.43C= (p.Gln15=) c.1213C= (p.Gln405=) n.1017C= n.381-9C= c.832C= (p.Gln278=) c.562C= (p.Gln188=) | |
11 | g.123059112G>T | CA383058091 | HSPA8 | c.1270C>A (p.Gln424Lys) c.43C>A (p.Gln15Lys) c.1213C>A (p.Gln405Lys) n.1017C>A n.381-9C>A c.832C>A (p.Gln278Lys) c.562C>A (p.Gln188Lys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.123059113C>A | CA383058093 | HSPA8 | c.1269G>T (p.Lys423Asn) c.42G>T (p.Lys14Asn) c.1212G>T (p.Lys404Asn) n.1016G>T n.381-10G>T c.831G>T (p.Lys277Asn) c.561G>T (p.Lys187Asn) | |
11 | g.123059113C= | CA2005596840 | HSPA8 | c.1269G= (p.Lys423=) c.42G= (p.Lys14=) c.1212G= (p.Lys404=) n.1016G= n.381-10G= c.831G= (p.Lys277=) c.561G= (p.Lys187=) | |
11 | g.123059113C>G | CA383058095 | HSPA8 | c.1269G>C (p.Lys423Asn) c.42G>C (p.Lys14Asn) c.1212G>C (p.Lys404Asn) n.1016G>C n.381-10G>C c.831G>C (p.Lys277Asn) c.561G>C (p.Lys187Asn) | |
11 | g.123059113C>T | CA6332525 | HSPA8 | c.1269G>A (p.Lys423=) c.42G>A (p.Lys14=) c.1212G>A (p.Lys404=) n.1016G>A n.381-10G>A c.831G>A (p.Lys277=) c.561G>A (p.Lys187=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.123059114T>A | CA383058102 | HSPA8 | c.1268A>T (p.Lys423Met) c.41A>T (p.Lys14Met) c.1211A>T (p.Lys404Met) n.1015A>T n.381-11A>T c.830A>T (p.Lys277Met) c.560A>T (p.Lys187Met) | |
11 | g.123059114T>C | CA383058100 | HSPA8 | c.1268A>G (p.Lys423Arg) c.41A>G (p.Lys14Arg) c.1211A>G (p.Lys404Arg) n.1015A>G n.381-11A>G c.830A>G (p.Lys277Arg) c.560A>G (p.Lys187Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123059114T>G | CA383058099 | HSPA8 | c.1268A>C (p.Lys423Thr) c.41A>C (p.Lys14Thr) c.1211A>C (p.Lys404Thr) n.1015A>C n.381-11A>C c.830A>C (p.Lys277Thr) c.560A>C (p.Lys187Thr) | |
11 | g.123059114T= | CA2005596845 | HSPA8 | c.1268A= (p.Lys423=) c.41A= (p.Lys14=) c.1211A= (p.Lys404=) n.1015A= n.381-11A= c.830A= (p.Lys277=) c.560A= (p.Lys187=) | |
11 | g.123059115T>A | CA383058104 | HSPA8 | c.1267A>T (p.Lys423Ter) c.40A>T (p.Lys14Ter) c.1210A>T (p.Lys404Ter) n.1014A>T n.381-12A>T c.829A>T (p.Lys277Ter) c.559A>T (p.Lys187Ter) | |
11 | g.123059115T>C | CA383058106 | HSPA8 | c.1267A>G (p.Lys423Glu) c.40A>G (p.Lys14Glu) c.1210A>G (p.Lys404Glu) n.1014A>G n.381-12A>G c.829A>G (p.Lys277Glu) c.559A>G (p.Lys187Glu) | |
11 | g.123059115T>G | CA383058108 | HSPA8 | c.1267A>C (p.Lys423Gln) c.40A>C (p.Lys14Gln) c.1210A>C (p.Lys404Gln) n.1014A>C n.381-12A>C c.829A>C (p.Lys277Gln) c.559A>C (p.Lys187Gln) | |
11 | g.123059116G>A | CA477385701 | HSPA8 | c.1266C>T (p.Thr422=) c.39C>T (p.Thr13=) c.1209C>T (p.Thr403=) n.1013C>T n.381-13C>T c.828C>T (p.Thr276=) c.558C>T (p.Thr186=) | gnomAD v4 |
11 | g.123059116G>C | CA477385703 | HSPA8 | c.1266C>G (p.Thr422=) c.39C>G (p.Thr13=) c.1209C>G (p.Thr403=) n.1013C>G n.381-13C>G c.828C>G (p.Thr276=) c.558C>G (p.Thr186=) | |
11 | g.123059116G>T | CA477385704 | HSPA8 | c.1266C>A (p.Thr422=) c.39C>A (p.Thr13=) c.1209C>A (p.Thr403=) n.1013C>A n.381-13C>A c.828C>A (p.Thr276=) c.558C>A (p.Thr186=) | |
11 | g.123059117G>A | CA383058110 | HSPA8 | c.1265C>T (p.Thr422Ile) c.38C>T (p.Thr13Ile) c.1208C>T (p.Thr403Ile) n.1012C>T n.381-14C>T c.827C>T (p.Thr276Ile) c.557C>T (p.Thr186Ile) | COSMIC |
11 | g.123059117G>C | CA383058112 | HSPA8 | c.1265C>G (p.Thr422Ser) c.38C>G (p.Thr13Ser) c.1208C>G (p.Thr403Ser) n.1012C>G n.381-14C>G c.827C>G (p.Thr276Ser) c.557C>G (p.Thr186Ser) | |
11 | g.123059117G>T | CA383058114 | HSPA8 | c.1265C>A (p.Thr422Asn) c.38C>A (p.Thr13Asn) c.1208C>A (p.Thr403Asn) n.1012C>A n.381-14C>A c.827C>A (p.Thr276Asn) c.557C>A (p.Thr186Asn) | gnomAD v4 |
11 | g.123059118T>A | CA383058117 | HSPA8 | c.1264A>T (p.Thr422Ser) c.37A>T (p.Thr13Ser) c.1207A>T (p.Thr403Ser) n.1011A>T n.381-15A>T c.826A>T (p.Thr276Ser) c.556A>T (p.Thr186Ser) | |
11 | g.123059118T>C | CA383058118 | HSPA8 | c.1264A>G (p.Thr422Ala) c.37A>G (p.Thr13Ala) c.1207A>G (p.Thr403Ala) n.1011A>G n.381-15A>G c.826A>G (p.Thr276Ala) c.556A>G (p.Thr186Ala) | COSMIC |
11 | g.123059118T>G | CA383058120 | HSPA8 | c.1264A>C (p.Thr422Pro) c.37A>C (p.Thr13Pro) c.1207A>C (p.Thr403Pro) n.1011A>C n.381-15A>C c.826A>C (p.Thr276Pro) c.556A>C (p.Thr186Pro) | |
11 | g.123059119A= | CA2005596850 | HSPA8 | c.1263T= (p.Pro421=) c.36T= (p.Pro12=) c.1206T= (p.Pro402=) n.1010T= n.381-16T= c.825T= (p.Pro275=) c.555T= (p.Pro185=) | |
11 | g.123059119A>C | CA477385705 | HSPA8 | c.1263T>G (p.Pro421=) c.36T>G (p.Pro12=) c.1206T>G (p.Pro402=) n.1010T>G n.381-16T>G c.825T>G (p.Pro275=) c.555T>G (p.Pro185=) | |
11 | g.123059119A>G | CA477385706 | HSPA8 | c.1263T>C (p.Pro421=) c.36T>C (p.Pro12=) c.1206T>C (p.Pro402=) n.1010T>C n.381-16T>C c.825T>C (p.Pro275=) c.555T>C (p.Pro185=) | dbSNP |
11 | g.123059119A>T | CA477385707 | HSPA8 | c.1263T>A (p.Pro421=) c.36T>A (p.Pro12=) c.1206T>A (p.Pro402=) n.1010T>A n.381-16T>A c.825T>A (p.Pro275=) c.555T>A (p.Pro185=) | |
11 | g.123059120G>A | CA383058123 | HSPA8 | c.1262C>T (p.Pro421Leu) c.35C>T (p.Pro12Leu) c.1205C>T (p.Pro402Leu) n.1009C>T n.381-17C>T c.824C>T (p.Pro275Leu) c.554C>T (p.Pro185Leu) | |
11 | g.123059120G>C | CA383058124 | HSPA8 | c.1262C>G (p.Pro421Arg) c.35C>G (p.Pro12Arg) c.1205C>G (p.Pro402Arg) n.1009C>G n.381-17C>G c.824C>G (p.Pro275Arg) c.554C>G (p.Pro185Arg) | |
11 | g.123059120G>T | CA383058126 | HSPA8 | c.1262C>A (p.Pro421His) c.35C>A (p.Pro12His) c.1205C>A (p.Pro402His) n.1009C>A n.381-17C>A c.824C>A (p.Pro275His) c.554C>A (p.Pro185His) | |
11 | g.123059121G>A | CA383058132 | HSPA8 | c.1261C>T (p.Pro421Ser) c.34C>T (p.Pro12Ser) c.1204C>T (p.Pro402Ser) n.1008C>T n.381-18C>T c.823C>T (p.Pro275Ser) c.553C>T (p.Pro185Ser) | dbSNP |
11 | g.123059121G>C | CA383058131 | HSPA8 | c.1261C>G (p.Pro421Ala) c.34C>G (p.Pro12Ala) c.1204C>G (p.Pro402Ala) n.1008C>G n.381-18C>G c.823C>G (p.Pro275Ala) c.553C>G (p.Pro185Ala) | |
11 | g.123059121G>T | CA383058129 | HSPA8 | c.1261C>A (p.Pro421Thr) c.34C>A (p.Pro12Thr) c.1204C>A (p.Pro402Thr) n.1008C>A n.381-18C>A c.823C>A (p.Pro275Thr) c.553C>A (p.Pro185Thr) | |
11 | g.123059122A= | CA2005596867 | HSPA8 | c.1260T= (p.Ile420=) c.33T= (p.Ile11=) c.1203T= (p.Ile401=) n.1007T= n.381-19T= c.822T= (p.Ile274=) c.552T= (p.Ile184=) | |
11 | g.123059122A>C | CA383058134 | HSPA8 | c.1260T>G (p.Ile420Met) c.33T>G (p.Ile11Met) c.1203T>G (p.Ile401Met) n.1007T>G n.381-19T>G c.822T>G (p.Ile274Met) c.552T>G (p.Ile184Met) | |
11 | g.123059122A>G | CA6332526 | HSPA8 | c.1260T>C (p.Ile420=) c.33T>C (p.Ile11=) c.1203T>C (p.Ile401=) n.1007T>C n.381-19T>C c.822T>C (p.Ile274=) c.552T>C (p.Ile184=) | dbSNP ExAC gnomAD v2 |
11 | g.123059122A>T | CA477385710 | HSPA8 | c.1260T>A (p.Ile420=) c.33T>A (p.Ile11=) c.1203T>A (p.Ile401=) n.1007T>A n.381-19T>A c.822T>A (p.Ile274=) c.552T>A (p.Ile184=) | |
11 | g.123059123A>C | CA383058138 | HSPA8 | c.1259T>G (p.Ile420Ser) c.32T>G (p.Ile11Ser) c.1202T>G (p.Ile401Ser) n.1006T>G n.381-20T>G c.821T>G (p.Ile274Ser) c.551T>G (p.Ile184Ser) | |
11 | g.123059123A>G | CA383058140 | HSPA8 | c.1259T>C (p.Ile420Thr) c.32T>C (p.Ile11Thr) c.1202T>C (p.Ile401Thr) n.1006T>C n.381-20T>C c.821T>C (p.Ile274Thr) c.551T>C (p.Ile184Thr) | |
11 | g.123059123A>T | CA383058142 | HSPA8 | c.1259T>A (p.Ile420Asn) c.32T>A (p.Ile11Asn) c.1202T>A (p.Ile401Asn) n.1006T>A n.381-20T>A c.821T>A (p.Ile274Asn) c.551T>A (p.Ile184Asn) | |
11 | g.123059124T>A | CA383058145 | HSPA8 | c.1258A>T (p.Ile420Phe) c.31A>T (p.Ile11Phe) c.1201A>T (p.Ile401Phe) n.1005A>T n.381-21A>T c.820A>T (p.Ile274Phe) c.550A>T (p.Ile184Phe) | |
11 | g.123059124T>C | CA383058147 | HSPA8 | c.1258A>G (p.Ile420Val) c.31A>G (p.Ile11Val) c.1201A>G (p.Ile401Val) n.1005A>G n.381-21A>G c.820A>G (p.Ile274Val) c.550A>G (p.Ile184Val) | COSMIC |
11 | g.123059124T>G | CA383058149 | HSPA8 | c.1258A>C (p.Ile420Leu) c.31A>C (p.Ile11Leu) c.1201A>C (p.Ile401Leu) n.1005A>C n.381-21A>C c.820A>C (p.Ile274Leu) c.550A>C (p.Ile184Leu) | |
11 | g.123059125_123059130del | CA2616532888 | HSPA8 | c.1253_1258del (p.Thr418_Thr419del) c.26_31del (p.Thr9_Thr10del) c.1196_1201del (p.Thr399_Thr400del) n.1000_1005del n.381-26_381-21del c.815_820del (p.Thr272_Thr273del) c.545_550del (p.Thr182_Thr183del) | gnomAD v4 |
11 | g.123059125G>A | CA6332527 | HSPA8 | c.1257C>T (p.Thr419=) c.30C>T (p.Thr10=) c.1200C>T (p.Thr400=) n.1004C>T n.381-22C>T c.819C>T (p.Thr273=) c.549C>T (p.Thr183=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123059125G>C | CA477385712 | HSPA8 | c.1257C>G (p.Thr419=) c.30C>G (p.Thr10=) c.1200C>G (p.Thr400=) n.1004C>G n.381-22C>G c.819C>G (p.Thr273=) c.549C>G (p.Thr183=) | |
11 | g.123059125G= | CA2005596881 | HSPA8 | c.1257C= (p.Thr419=) c.30C= (p.Thr10=) c.1200C= (p.Thr400=) n.1004C= n.381-22C= c.819C= (p.Thr273=) c.549C= (p.Thr183=) | |
11 | g.123059125G>T | CA477385713 | HSPA8 | c.1257C>A (p.Thr419=) c.30C>A (p.Thr10=) c.1200C>A (p.Thr400=) n.1004C>A n.381-22C>A c.819C>A (p.Thr273=) c.549C>A (p.Thr183=) | |
11 | g.123059126G>A | CA383058150 | HSPA8 | c.1256C>T (p.Thr419Ile) c.29C>T (p.Thr10Ile) c.1199C>T (p.Thr400Ile) n.1003C>T n.381-23C>T c.818C>T (p.Thr273Ile) c.548C>T (p.Thr183Ile) | |
11 | g.123059126G>C | CA383058152 | HSPA8 | c.1256C>G (p.Thr419Ser) c.29C>G (p.Thr10Ser) c.1199C>G (p.Thr400Ser) n.1003C>G n.381-23C>G c.818C>G (p.Thr273Ser) c.548C>G (p.Thr183Ser) | |
11 | g.123059126G>T | CA383058154 | HSPA8 | c.1256C>A (p.Thr419Asn) c.29C>A (p.Thr10Asn) c.1199C>A (p.Thr400Asn) n.1003C>A n.381-23C>A c.818C>A (p.Thr273Asn) c.548C>A (p.Thr183Asn) | |
11 | g.123059127T>A | CA383058159 | HSPA8 | c.1255A>T (p.Thr419Ser) c.28A>T (p.Thr10Ser) c.1198A>T (p.Thr400Ser) n.1002A>T n.381-24A>T c.817A>T (p.Thr273Ser) c.547A>T (p.Thr183Ser) | |
11 | g.123059127T>C | CA383058157 | HSPA8 | c.1255A>G (p.Thr419Ala) c.28A>G (p.Thr10Ala) c.1198A>G (p.Thr400Ala) n.1002A>G n.381-24A>G c.817A>G (p.Thr273Ala) c.547A>G (p.Thr183Ala) | |
11 | g.123059127T>G | CA383058155 | HSPA8 | c.1255A>C (p.Thr419Pro) c.28A>C (p.Thr10Pro) c.1198A>C (p.Thr400Pro) n.1002A>C n.381-24A>C c.817A>C (p.Thr273Pro) c.547A>C (p.Thr183Pro) | dbSNP |
11 | g.123059127T= | CA2005596886 | HSPA8 | c.1255A= (p.Thr419=) c.28A= (p.Thr10=) c.1198A= (p.Thr400=) n.1002A= n.381-24A= c.817A= (p.Thr273=) c.547A= (p.Thr183=) | |
11 | g.123059128G>A | CA6332528 | HSPA8 | c.1254C>T (p.Thr418=) c.27C>T (p.Thr9=) c.1197C>T (p.Thr399=) n.1001C>T n.381-25C>T c.816C>T (p.Thr272=) c.546C>T (p.Thr182=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123059128G>C | CA477385714 | HSPA8 | c.1254C>G (p.Thr418=) c.27C>G (p.Thr9=) c.1197C>G (p.Thr399=) n.1001C>G n.381-25C>G c.816C>G (p.Thr272=) c.546C>G (p.Thr182=) | |
11 | g.123059128G= | CA2005596890 | HSPA8 | c.1254C= (p.Thr418=) c.27C= (p.Thr9=) c.1197C= (p.Thr399=) n.1001C= n.381-25C= c.816C= (p.Thr272=) c.546C= (p.Thr182=) | |
11 | g.123059128G>T | CA477385715 | HSPA8 | c.1254C>A (p.Thr418=) c.27C>A (p.Thr9=) c.1197C>A (p.Thr399=) n.1001C>A n.381-25C>A c.816C>A (p.Thr272=) c.546C>A (p.Thr182=) | |
11 | g.123059129G>A | CA383058161 | HSPA8 | c.1253C>T (p.Thr418Ile) c.26C>T (p.Thr9Ile) c.1196C>T (p.Thr399Ile) n.1000C>T n.381-26C>T c.815C>T (p.Thr272Ile) c.545C>T (p.Thr182Ile) | gnomAD v4 |
11 | g.123059129G>C | CA383058163 | HSPA8 | c.1253C>G (p.Thr418Ser) c.26C>G (p.Thr9Ser) c.1196C>G (p.Thr399Ser) n.1000C>G n.381-26C>G c.815C>G (p.Thr272Ser) c.545C>G (p.Thr182Ser) | gnomAD v4 |
11 | g.123059129G>T | CA383058164 | HSPA8 | c.1253C>A (p.Thr418Asn) c.26C>A (p.Thr9Asn) c.1196C>A (p.Thr399Asn) n.1000C>A n.381-26C>A c.815C>A (p.Thr272Asn) c.545C>A (p.Thr182Asn) | |
11 | g.123059130T>A | CA383058167 | HSPA8 | c.1252A>T (p.Thr418Ser) c.25A>T (p.Thr9Ser) c.1195A>T (p.Thr399Ser) n.999A>T n.381-27A>T c.814A>T (p.Thr272Ser) c.544A>T (p.Thr182Ser) | |
11 | g.123059130T>C | CA383058169 | HSPA8 | c.1252A>G (p.Thr418Ala) c.25A>G (p.Thr9Ala) c.1195A>G (p.Thr399Ala) n.999A>G n.381-27A>G c.814A>G (p.Thr272Ala) c.544A>G (p.Thr182Ala) | |
11 | g.123059130T>G | CA383058171 | HSPA8 | c.1252A>C (p.Thr418Pro) c.25A>C (p.Thr9Pro) c.1195A>C (p.Thr399Pro) n.999A>C n.381-27A>C c.814A>C (p.Thr272Pro) c.544A>C (p.Thr182Pro) | dbSNP |
11 | g.123059130T= | CA2005596897 | HSPA8 | c.1252A= (p.Thr418=) c.25A= (p.Thr9=) c.1195A= (p.Thr399=) n.999A= n.381-27A= c.814A= (p.Thr272=) c.544A= (p.Thr182=) | |
11 | g.123059131A>C | CA383058173 | HSPA8 | c.1251T>G (p.Asn417Lys) c.24T>G (p.Asn8Lys) c.1194T>G (p.Asn398Lys) n.998T>G n.381-28T>G c.813T>G (p.Asn271Lys) c.543T>G (p.Asn181Lys) | |
11 | g.123059131A>G | CA477385719 | HSPA8 | c.1251T>C (p.Asn417=) c.24T>C (p.Asn8=) c.1194T>C (p.Asn398=) n.998T>C n.381-28T>C c.813T>C (p.Asn271=) c.543T>C (p.Asn181=) | |
11 | g.123059131A>T | CA383058175 | HSPA8 | c.1251T>A (p.Asn417Lys) c.24T>A (p.Asn8Lys) c.1194T>A (p.Asn398Lys) n.998T>A n.381-28T>A c.813T>A (p.Asn271Lys) c.543T>A (p.Asn181Lys) | |
11 | g.123059132T>A | CA383058177 | HSPA8 | c.1250A>T (p.Asn417Ile) c.23A>T (p.Asn8Ile) c.1193A>T (p.Asn398Ile) n.997A>T n.381-29A>T c.812A>T (p.Asn271Ile) c.542A>T (p.Asn181Ile) | |
11 | g.123059132T>C | CA383058178 | HSPA8 | c.1250A>G (p.Asn417Ser) c.23A>G (p.Asn8Ser) c.1193A>G (p.Asn398Ser) n.997A>G n.381-29A>G c.812A>G (p.Asn271Ser) c.542A>G (p.Asn181Ser) | |
11 | g.123059132T>G | CA383058181 | HSPA8 | c.1250A>C (p.Asn417Thr) c.23A>C (p.Asn8Thr) c.1193A>C (p.Asn398Thr) n.997A>C n.381-29A>C c.812A>C (p.Asn271Thr) c.542A>C (p.Asn181Thr) | |
11 | g.123059133T>A | CA383058188 | HSPA8 | c.1249A>T (p.Asn417Tyr) c.22A>T (p.Asn8Tyr) c.1192A>T (p.Asn398Tyr) n.996A>T n.381-30A>T c.811A>T (p.Asn271Tyr) c.541A>T (p.Asn181Tyr) | |
11 | g.123059133T>C | CA383058186 | HSPA8 | c.1249A>G (p.Asn417Asp) c.22A>G (p.Asn8Asp) c.1192A>G (p.Asn398Asp) n.996A>G n.381-30A>G c.811A>G (p.Asn271Asp) c.541A>G (p.Asn181Asp) | |
11 | g.123059133T>G | CA383058184 | HSPA8 | c.1249A>C (p.Asn417His) c.22A>C (p.Asn8His) c.1192A>C (p.Asn398His) n.996A>C n.381-30A>C c.811A>C (p.Asn271His) c.541A>C (p.Asn181His) | |
11 | g.123059134A= | CA2005596900 | HSPA8 | c.1248T= (p.Arg416=) c.21T= (p.Arg7=) c.1191T= (p.Arg397=) n.995T= n.381-31T= c.810T= (p.Arg270=) c.540T= (p.Arg180=) | |
11 | g.123059134A>C | CA477385725 | HSPA8 | c.1248T>G (p.Arg416=) c.21T>G (p.Arg7=) c.1191T>G (p.Arg397=) n.995T>G n.381-31T>G c.810T>G (p.Arg270=) c.540T>G (p.Arg180=) | |
11 | g.123059134A>G | CA477385723 | HSPA8 | c.1248T>C (p.Arg416=) c.21T>C (p.Arg7=) c.1191T>C (p.Arg397=) n.995T>C n.381-31T>C c.810T>C (p.Arg270=) c.540T>C (p.Arg180=) | dbSNP |
11 | g.123059134A>T | CA477385724 | HSPA8 | c.1248T>A (p.Arg416=) c.21T>A (p.Arg7=) c.1191T>A (p.Arg397=) n.995T>A n.381-31T>A c.810T>A (p.Arg270=) c.540T>A (p.Arg180=) | |
11 | g.123059135C>A | CA383058190 | HSPA8 | c.1247G>T (p.Arg416Leu) c.20G>T (p.Arg7Leu) c.1190G>T (p.Arg397Leu) n.994G>T n.381-32G>T c.809G>T (p.Arg270Leu) c.539G>T (p.Arg180Leu) | |
11 | g.123059135C>G | CA383058193 | HSPA8 | c.1247G>C (p.Arg416Pro) c.20G>C (p.Arg7Pro) c.1190G>C (p.Arg397Pro) n.994G>C n.381-32G>C c.809G>C (p.Arg270Pro) c.539G>C (p.Arg180Pro) | |
11 | g.123059135C>T | CA383058192 | HSPA8 | c.1247G>A (p.Arg416His) c.20G>A (p.Arg7His) c.1190G>A (p.Arg397His) n.994G>A n.381-32G>A c.809G>A (p.Arg270His) c.539G>A (p.Arg180His) | dbSNP COSMIC |
11 | g.123059136G>A | CA383058195 | HSPA8 | c.1246C>T (p.Arg416Cys) c.19C>T (p.Arg7Cys) c.1189C>T (p.Arg397Cys) n.993C>T n.381-33C>T c.808C>T (p.Arg270Cys) c.538C>T (p.Arg180Cys) | dbSNP gnomAD v4 COSMIC |
11 | g.123059136G>C | CA383058197 | HSPA8 | c.1246C>G (p.Arg416Gly) c.19C>G (p.Arg7Gly) c.1189C>G (p.Arg397Gly) n.993C>G n.381-33C>G c.808C>G (p.Arg270Gly) c.538C>G (p.Arg180Gly) | |
11 | g.123059136G>T | CA383058199 | HSPA8 | c.1246C>A (p.Arg416Ser) c.19C>A (p.Arg7Ser) c.1189C>A (p.Arg397Ser) n.993C>A n.381-33C>A c.808C>A (p.Arg270Ser) c.538C>A (p.Arg180Ser) | |
11 | g.123059137C>A | CA383058201 | HSPA8 | c.1245G>T (p.Lys415Asn) c.18G>T (p.Lys6Asn) c.1188G>T (p.Lys396Asn) n.992G>T n.381-34G>T c.807G>T (p.Lys269Asn) c.537G>T (p.Lys179Asn) | |
11 | g.123059137C= | CA2005596903 | HSPA8 | c.1245G= (p.Lys415=) c.18G= (p.Lys6=) c.1188G= (p.Lys396=) n.992G= n.381-34G= c.807G= (p.Lys269=) c.537G= (p.Lys179=) | |
11 | g.123059137C>G | CA383058202 | HSPA8 | c.1245G>C (p.Lys415Asn) c.18G>C (p.Lys6Asn) c.1188G>C (p.Lys396Asn) n.992G>C n.381-34G>C c.807G>C (p.Lys269Asn) c.537G>C (p.Lys179Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.123059137C>T | CA477385726 | HSPA8 | c.1245G>A (p.Lys415=) c.18G>A (p.Lys6=) c.1188G>A (p.Lys396=) n.992G>A n.381-34G>A c.807G>A (p.Lys269=) c.537G>A (p.Lys179=) | dbSNP gnomAD v4 |
11 | g.123059138T>A | CA383058205 | HSPA8 | c.1244A>T (p.Lys415Met) c.17A>T (p.Lys6Met) c.1187A>T (p.Lys396Met) n.991A>T n.381-35A>T c.806A>T (p.Lys269Met) c.536A>T (p.Lys179Met) | |
11 | g.123059138T>C | CA383058207 | HSPA8 | c.1244A>G (p.Lys415Arg) c.17A>G (p.Lys6Arg) c.1187A>G (p.Lys396Arg) n.991A>G n.381-35A>G c.806A>G (p.Lys269Arg) c.536A>G (p.Lys179Arg) | |
11 | g.123059138T>G | CA383058209 | HSPA8 | c.1244A>C (p.Lys415Thr) c.17A>C (p.Lys6Thr) c.1187A>C (p.Lys396Thr) n.991A>C n.381-35A>C c.806A>C (p.Lys269Thr) c.536A>C (p.Lys179Thr) | gnomAD v4 |
11 | g.123059139T>A | CA383058210 | HSPA8 | c.1243A>T (p.Lys415Ter) c.16A>T (p.Lys6Ter) c.1186A>T (p.Lys396Ter) n.990A>T n.381-36A>T c.805A>T (p.Lys269Ter) c.535A>T (p.Lys179Ter) | |
11 | g.123059139T>C | CA383058212 | HSPA8 | c.1243A>G (p.Lys415Glu) c.16A>G (p.Lys6Glu) c.1186A>G (p.Lys396Glu) n.990A>G n.381-36A>G c.805A>G (p.Lys269Glu) c.535A>G (p.Lys179Glu) | |
11 | g.123059139T>G | CA383058214 | HSPA8 | c.1243A>C (p.Lys415Gln) c.16A>C (p.Lys6Gln) c.1186A>C (p.Lys396Gln) n.990A>C n.381-36A>C c.805A>C (p.Lys269Gln) c.535A>C (p.Lys179Gln) | |
11 | g.123059140G>A | CA477385730 | HSPA8 | c.1242C>T (p.Ile414=) c.15C>T (p.Ile5=) c.1185C>T (p.Ile395=) n.989C>T n.381-37C>T c.804C>T (p.Ile268=) c.534C>T (p.Ile178=) | dbSNP gnomAD v4 |
11 | g.123059140G>C | CA383058215 | HSPA8 | c.1242C>G (p.Ile414Met) c.15C>G (p.Ile5Met) c.1185C>G (p.Ile395Met) n.989C>G n.381-37C>G c.804C>G (p.Ile268Met) c.534C>G (p.Ile178Met) | |
11 | g.123059140G= | CA2005596907 | HSPA8 | c.1242C= (p.Ile414=) c.15C= (p.Ile5=) c.1185C= (p.Ile395=) n.989C= n.381-37C= c.804C= (p.Ile268=) c.534C= (p.Ile178=) | |
11 | g.123059140G>T | CA477385731 | HSPA8 | c.1242C>A (p.Ile414=) c.15C>A (p.Ile5=) c.1185C>A (p.Ile395=) n.989C>A n.381-37C>A c.804C>A (p.Ile268=) c.534C>A (p.Ile178=) | |
11 | g.123059141A>C | CA383058220 | HSPA8 | c.1241T>G (p.Ile414Ser) c.14T>G (p.Ile5Ser) c.1184T>G (p.Ile395Ser) n.988T>G n.381-38T>G c.803T>G (p.Ile268Ser) c.533T>G (p.Ile178Ser) | |
11 | g.123059141A>G | CA383058218 | HSPA8 | c.1241T>C (p.Ile414Thr) c.14T>C (p.Ile5Thr) c.1184T>C (p.Ile395Thr) n.988T>C n.381-38T>C c.803T>C (p.Ile268Thr) c.533T>C (p.Ile178Thr) | |
11 | g.123059141A>T | CA383058219 | HSPA8 | c.1241T>A (p.Ile414Asn) c.14T>A (p.Ile5Asn) c.1184T>A (p.Ile395Asn) n.988T>A n.381-38T>A c.803T>A (p.Ile268Asn) c.533T>A (p.Ile178Asn) | |
11 | g.123059142T>A | CA383058223 | HSPA8 | c.1240A>T (p.Ile414Phe) c.13A>T (p.Ile5Phe) c.1183A>T (p.Ile395Phe) n.987A>T n.381-39A>T c.802A>T (p.Ile268Phe) c.532A>T (p.Ile178Phe) | |
11 | g.123059142T>C | CA383058225 | HSPA8 | c.1240A>G (p.Ile414Val) c.13A>G (p.Ile5Val) c.1183A>G (p.Ile395Val) n.987A>G n.381-39A>G c.802A>G (p.Ile268Val) c.532A>G (p.Ile178Val) | |
11 | g.123059142T>G | CA383058226 | HSPA8 | c.1240A>C (p.Ile414Leu) c.13A>C (p.Ile5Leu) c.1183A>C (p.Ile395Leu) n.987A>C n.381-39A>C c.802A>C (p.Ile268Leu) c.532A>C (p.Ile178Leu) | |
11 | g.123059143G>A | CA477385735 | HSPA8 | c.1239C>T (p.Leu413=) c.12C>T (p.Leu4=) c.1182C>T (p.Leu394=) n.986C>T n.381-40C>T c.801C>T (p.Leu267=) c.531C>T (p.Leu177=) | dbSNP gnomAD v4 |
11 | g.123059143G>C | CA477385736 | HSPA8 | c.1239C>G (p.Leu413=) c.12C>G (p.Leu4=) c.1182C>G (p.Leu394=) n.986C>G n.381-40C>G c.801C>G (p.Leu267=) c.531C>G (p.Leu177=) | |
11 | g.123059143G= | CA2005596911 | HSPA8 | c.1239C= (p.Leu413=) c.12C= (p.Leu4=) c.1182C= (p.Leu394=) n.986C= n.381-40C= c.801C= (p.Leu267=) c.531C= (p.Leu177=) | |
11 | g.123059143G>T | CA477385737 | HSPA8 | c.1239C>A (p.Leu413=) c.12C>A (p.Leu4=) c.1182C>A (p.Leu394=) n.986C>A n.381-40C>A c.801C>A (p.Leu267=) c.531C>A (p.Leu177=) | |
11 | g.123059144A>C | CA383058229 | HSPA8 | c.1238T>G (p.Leu413Arg) c.11T>G (p.Leu4Arg) c.1181T>G (p.Leu394Arg) n.985T>G n.381-41T>G c.800T>G (p.Leu267Arg) c.530T>G (p.Leu177Arg) | |
11 | g.123059144A>G | CA383058231 | HSPA8 | c.1238T>C (p.Leu413Pro) c.11T>C (p.Leu4Pro) c.1181T>C (p.Leu394Pro) n.985T>C n.381-41T>C c.800T>C (p.Leu267Pro) c.530T>C (p.Leu177Pro) | |
11 | g.123059144A>T | CA383058233 | HSPA8 | c.1238T>A (p.Leu413His) c.11T>A (p.Leu4His) c.1181T>A (p.Leu394His) n.985T>A n.381-41T>A c.800T>A (p.Leu267His) c.530T>A (p.Leu177His) | |
11 | g.123059145G>A | CA383058235 | HSPA8 | c.1237C>T (p.Leu413Phe) c.10C>T (p.Leu4Phe) c.1180C>T (p.Leu394Phe) n.984C>T n.381-42C>T c.799C>T (p.Leu267Phe) c.529C>T (p.Leu177Phe) | |
11 | g.123059145G>C | CA383058237 | HSPA8 | c.1237C>G (p.Leu413Val) c.10C>G (p.Leu4Val) c.1180C>G (p.Leu394Val) n.984C>G n.381-42C>G c.799C>G (p.Leu267Val) c.529C>G (p.Leu177Val) | |
11 | g.123059145G>T | CA383058239 | HSPA8 | c.1237C>A (p.Leu413Ile) c.10C>A (p.Leu4Ile) c.1180C>A (p.Leu394Ile) n.984C>A n.381-42C>A c.799C>A (p.Leu267Ile) c.529C>A (p.Leu177Ile) | |
11 | g.123059146G>A | CA229967259 | HSPA8 | c.1236C>T (p.Val412=) c.9C>T (p.Val3=) c.1179C>T (p.Val393=) n.983C>T n.381-43C>T c.798C>T (p.Val266=) c.528C>T (p.Val176=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123059146G>C | CA477385741 | HSPA8 | c.1236C>G (p.Val412=) c.9C>G (p.Val3=) c.1179C>G (p.Val393=) n.983C>G n.381-43C>G c.798C>G (p.Val266=) c.528C>G (p.Val176=) | gnomAD v4 |
11 | g.123059146G= | CA2005596915 | HSPA8 | c.1236C= (p.Val412=) c.9C= (p.Val3=) c.1179C= (p.Val393=) n.983C= n.381-43C= c.798C= (p.Val266=) c.528C= (p.Val176=) | |
11 | g.123059146G>T | CA6332529 | HSPA8 | c.1236C>A (p.Val412=) c.9C>A (p.Val3=) c.1179C>A (p.Val393=) n.983C>A n.381-43C>A c.798C>A (p.Val266=) c.528C>A (p.Val176=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.123059147A>C | CA383058245 | HSPA8 | c.1235T>G (p.Val412Gly) c.8T>G (p.Val3Gly) c.1178T>G (p.Val393Gly) n.982T>G n.381-44T>G c.797T>G (p.Val266Gly) c.527T>G (p.Val176Gly) | |
11 | g.123059147A>G | CA383058244 | HSPA8 | c.1235T>C (p.Val412Ala) c.8T>C (p.Val3Ala) c.1178T>C (p.Val393Ala) n.982T>C n.381-44T>C c.797T>C (p.Val266Ala) c.527T>C (p.Val176Ala) | |
11 | g.123059147A>T | CA383058243 | HSPA8 | c.1235T>A (p.Val412Asp) c.8T>A (p.Val3Asp) c.1178T>A (p.Val393Asp) n.982T>A n.381-44T>A c.797T>A (p.Val266Asp) c.527T>A (p.Val176Asp) | |
11 | g.123059148C>A | CA383058252 | HSPA8 | c.1234G>T (p.Val412Phe) c.7G>T (p.Val3Phe) c.1177G>T (p.Val393Phe) n.981G>T n.381-45G>T c.796G>T (p.Val266Phe) c.526G>T (p.Val176Phe) | |
11 | g.123059148C= | CA2005596920 | HSPA8 | c.1234G= (p.Val412=) c.7G= (p.Val3=) c.1177G= (p.Val393=) n.981G= n.381-45G= c.796G= (p.Val266=) c.526G= (p.Val176=) | |
11 | g.123059148C>G | CA383058248 | HSPA8 | c.1234G>C (p.Val412Leu) c.7G>C (p.Val3Leu) c.1177G>C (p.Val393Leu) n.981G>C n.381-45G>C c.796G>C (p.Val266Leu) c.526G>C (p.Val176Leu) | |
11 | g.123059148C>T | CA383058250 | HSPA8 | c.1234G>A (p.Val412Ile) c.7G>A (p.Val3Ile) c.1177G>A (p.Val393Ile) n.981G>A n.381-45G>A c.796G>A (p.Val266Ile) c.526G>A (p.Val176Ile) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123059149A= | CA2005596925 | HSPA8 | c.1233T= (p.Thr411=) c.6T= (p.Thr2=) c.1176T= (p.Thr392=) n.980T= n.381-46T= c.795T= (p.Thr265=) c.525T= (p.Thr175=) | |
11 | g.123059149A>C | CA477385743 | HSPA8 | c.1233T>G (p.Thr411=) c.6T>G (p.Thr2=) c.1176T>G (p.Thr392=) n.980T>G n.381-46T>G c.795T>G (p.Thr265=) c.525T>G (p.Thr175=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123059149A>G | CA477385744 | HSPA8 | c.1233T>C (p.Thr411=) c.6T>C (p.Thr2=) c.1176T>C (p.Thr392=) n.980T>C n.381-46T>C c.795T>C (p.Thr265=) c.525T>C (p.Thr175=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123059149A>T | CA477385746 | HSPA8 | c.1233T>A (p.Thr411=) c.6T>A (p.Thr2=) c.1176T>A (p.Thr392=) n.980T>A n.381-46T>A c.795T>A (p.Thr265=) c.525T>A (p.Thr175=) | |
11 | g.123059150G>A | CA383058255 | HSPA8 | c.1232C>T (p.Thr411Ile) c.5C>T (p.Thr2Ile) c.1175C>T (p.Thr392Ile) n.979C>T n.381-47C>T c.794C>T (p.Thr265Ile) c.524C>T (p.Thr175Ile) | dbSNP |
11 | g.123059150G>C | CA383058257 | HSPA8 | c.1232C>G (p.Thr411Ser) c.5C>G (p.Thr2Ser) c.1175C>G (p.Thr392Ser) n.979C>G n.381-47C>G c.794C>G (p.Thr265Ser) c.524C>G (p.Thr175Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.123059150G= | CA2005596930 | HSPA8 | c.1232C= (p.Thr411=) c.5C= (p.Thr2=) c.1175C= (p.Thr392=) n.979C= n.381-47C= c.794C= (p.Thr265=) c.524C= (p.Thr175=) | |
11 | g.123059150G>T | CA383058259 | HSPA8 | c.1232C>A (p.Thr411Asn) c.5C>A (p.Thr2Asn) c.1175C>A (p.Thr392Asn) n.979C>A n.381-47C>A c.794C>A (p.Thr265Asn) c.524C>A (p.Thr175Asn) | |
11 | g.123059151T>A | CA383058265 | HSPA8 | c.1231A>T (p.Thr411Ser) c.4A>T (p.Thr2Ser) c.1174A>T (p.Thr392Ser) n.978A>T n.381-48A>T c.793A>T (p.Thr265Ser) c.523A>T (p.Thr175Ser) | |
11 | g.123059151T>C | CA383058263 | HSPA8 | c.1231A>G (p.Thr411Ala) c.4A>G (p.Thr2Ala) c.1174A>G (p.Thr392Ala) n.978A>G n.381-48A>G c.793A>G (p.Thr265Ala) c.523A>G (p.Thr175Ala) | dbSNP |
11 | g.123059151T>G | CA383058261 | HSPA8 | c.1231A>C (p.Thr411Pro) c.4A>C (p.Thr2Pro) c.1174A>C (p.Thr392Pro) n.978A>C n.381-48A>C c.793A>C (p.Thr265Pro) c.523A>C (p.Thr175Pro) | |
11 | g.123059151T= | CA2005596933 | HSPA8 | c.1231A= (p.Thr411=) c.4A= (p.Thr2=) c.1174A= (p.Thr392=) n.978A= n.381-48A= c.793A= (p.Thr265=) c.523A= (p.Thr175=) | |
11 | g.123059152C>A | CA383058267 | HSPA8 | c.1230G>T (p.Met410Ile) c.3G>T (p.Met1Ile) c.1173G>T (p.Met391Ile) n.977G>T n.381-49G>T c.792G>T (p.Met264Ile) c.522G>T (p.Met174Ile) | |
11 | g.123059152C>G | CA383058269 | HSPA8 | c.1230G>C (p.Met410Ile) c.3G>C (p.Met1Ile) c.1173G>C (p.Met391Ile) n.977G>C n.381-49G>C c.792G>C (p.Met264Ile) c.522G>C (p.Met174Ile) | |
11 | g.123059152C>T | CA383058270 | HSPA8 | c.1230G>A (p.Met410Ile) c.3G>A (p.Met1Ile) c.1173G>A (p.Met391Ile) n.977G>A n.381-49G>A c.792G>A (p.Met264Ile) c.522G>A (p.Met174Ile) | COSMIC |
11 | g.123059153A>C | CA383058272 | HSPA8 | c.1229T>G (p.Met410Arg) c.2T>G (p.Met1Arg) c.1172T>G (p.Met391Arg) n.976T>G n.381-50T>G c.791T>G (p.Met264Arg) c.521T>G (p.Met174Arg) | |
11 | g.123059153A>G | CA383058274 | HSPA8 | c.1229T>C (p.Met410Thr) c.2T>C (p.Met1Thr) c.1172T>C (p.Met391Thr) n.976T>C n.381-50T>C c.791T>C (p.Met264Thr) c.521T>C (p.Met174Thr) | |
11 | g.123059153A>T | CA383058276 | HSPA8 | c.1229T>A (p.Met410Lys) c.2T>A (p.Met1Lys) c.1172T>A (p.Met391Lys) n.976T>A n.381-50T>A c.791T>A (p.Met264Lys) c.521T>A (p.Met174Lys) | |
11 | g.123059154T>A | CA383058278 | HSPA8 | c.1228A>T (p.Met410Leu) c.1A>T (p.Met1Leu) c.1171A>T (p.Met391Leu) n.975A>T n.381-51A>T c.790A>T (p.Met264Leu) c.520A>T (p.Met174Leu) | |
11 | g.123059154T>C | CA383058282 | HSPA8 | c.1228A>G (p.Met410Val) c.1A>G (p.Met1Val) c.1171A>G (p.Met391Val) n.975A>G n.381-51A>G c.790A>G (p.Met264Val) c.520A>G (p.Met174Val) | |
11 | g.123059154T>G | CA383058280 | HSPA8 | c.1228A>C (p.Met410Leu) c.1A>C (p.Met1Leu) c.1171A>C (p.Met391Leu) n.975A>C n.381-51A>C c.790A>C (p.Met264Leu) c.520A>C (p.Met174Leu) | |
11 | g.123059155G>A | CA477385751 | HSPA8 | c.1227C>T (p.Val409=) c.-1C>T (n.-1C>T) c.1170C>T (p.Val390=) n.974C>T n.381-52C>T c.789C>T (p.Val263=) c.519C>T (p.Val173=) | dbSNP |
11 | g.123059155G>C | CA477385752 | HSPA8 | c.1227C>G (p.Val409=) c.-1C>G (n.-1C>G) c.1170C>G (p.Val390=) n.974C>G n.381-52C>G c.789C>G (p.Val263=) c.519C>G (p.Val173=) | |
11 | g.123059155G= | CA2005596946 | HSPA8 | c.1227C= (p.Val409=) c.-1C= (n.-1C=) c.1170C= (p.Val390=) n.974C= n.381-52C= c.789C= (p.Val263=) c.519C= (p.Val173=) | |
11 | g.123059155G>T | CA477385753 | HSPA8 | c.1227C>A (p.Val409=) c.-1C>A (n.-1C>A) c.1170C>A (p.Val390=) n.974C>A n.381-52C>A c.789C>A (p.Val263=) c.519C>A (p.Val173=) | |
11 | g.123059156A>C | CA383058284 | HSPA8 | c.1226T>G (p.Val409Gly) c.-2T>G (n.-2T>G) c.1169T>G (p.Val390Gly) n.504T>G n.973T>G n.381-53T>G c.788T>G (p.Val263Gly) c.518T>G (p.Val173Gly) | |
11 | g.123059156A>G | CA383058286 | HSPA8 | c.1226T>C (p.Val409Ala) c.-2T>C (n.-2T>C) c.1169T>C (p.Val390Ala) n.504T>C n.973T>C n.381-53T>C c.788T>C (p.Val263Ala) c.518T>C (p.Val173Ala) | |
11 | g.123059156A>T | CA383058288 | HSPA8 | c.1226T>A (p.Val409Asp) c.-2T>A (n.-2T>A) c.1169T>A (p.Val390Asp) n.504T>A n.973T>A n.381-53T>A c.788T>A (p.Val263Asp) c.518T>A (p.Val173Asp) | |
11 | g.123059157C>A | CA383058290 | HSPA8 | c.1225G>T (p.Val409Phe) c.-3G>T (n.-3G>T) c.1168G>T (p.Val390Phe) n.503G>T n.972G>T n.381-54G>T c.787G>T (p.Val263Phe) c.517G>T (p.Val173Phe) | |
11 | g.123059157C= | CA2005596950 | HSPA8 | c.1225G= (p.Val409=) c.-3G= (n.-3G=) c.1168G= (p.Val390=) n.503G= n.972G= n.381-54G= c.787G= (p.Val263=) c.517G= (p.Val173=) | |
11 | g.123059157C>G | CA383058292 | HSPA8 | c.1225G>C (p.Val409Leu) c.-3G>C (n.-3G>C) c.1168G>C (p.Val390Leu) n.503G>C n.972G>C n.381-54G>C c.787G>C (p.Val263Leu) c.517G>C (p.Val173Leu) | |
11 | g.123059157C>T | CA6332530 | HSPA8 | c.1225G>A (p.Val409Ile) c.-3G>A (n.-3G>A) c.1168G>A (p.Val390Ile) n.503G>A n.972G>A n.381-54G>A c.787G>A (p.Val263Ile) c.517G>A (p.Val173Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123059158T>A | CA477385754 | HSPA8 | c.1224A>T (p.Gly408=) c.-4A>T (n.-4A>T) c.1167A>T (p.Gly389=) n.502A>T n.971A>T n.381-55A>T c.786A>T (p.Gly262=) c.516A>T (p.Gly172=) | |
11 | g.123059158T>C | CA477385755 | HSPA8 | c.1224A>G (p.Gly408=) c.-4A>G (n.-4A>G) c.1167A>G (p.Gly389=) n.502A>G n.971A>G n.381-55A>G c.786A>G (p.Gly262=) c.516A>G (p.Gly172=) | |
11 | g.123059158T>G | CA477385756 | HSPA8 | c.1224A>C (p.Gly408=) c.-4A>C (n.-4A>C) c.1167A>C (p.Gly389=) n.502A>C n.971A>C n.381-55A>C c.786A>C (p.Gly262=) c.516A>C (p.Gly172=) | |
11 | g.123059159C>A | CA383058295 | HSPA8 | c.1223G>T (p.Gly408Val) c.-5G>T (n.-5G>T) c.1166G>T (p.Gly389Val) n.501G>T n.970G>T n.381-56G>T c.785G>T (p.Gly262Val) c.515G>T (p.Gly172Val) | |
11 | g.123059159C>G | CA383058298 | HSPA8 | c.1223G>C (p.Gly408Ala) c.-5G>C (n.-5G>C) c.1166G>C (p.Gly389Ala) n.501G>C n.970G>C n.381-56G>C c.785G>C (p.Gly262Ala) c.515G>C (p.Gly172Ala) | |
11 | g.123059159C>T | CA383058300 | HSPA8 | c.1223G>A (p.Gly408Glu) c.-5G>A (n.-5G>A) c.1166G>A (p.Gly389Glu) n.501G>A n.970G>A n.381-56G>A c.785G>A (p.Gly262Glu) c.515G>A (p.Gly172Glu) | |
11 | g.123059160C>A | CA383058303 | HSPA8 | c.1222G>T (p.Gly408Ter) c.-6G>T (n.-6G>T) c.1165G>T (p.Gly389Ter) n.500G>T n.969G>T n.381-57G>T c.784G>T (p.Gly262Ter) c.514G>T (p.Gly172Ter) | COSMIC |
11 | g.123059160C>G | CA383058304 | HSPA8 | c.1222G>C (p.Gly408Arg) c.-6G>C (n.-6G>C) c.1165G>C (p.Gly389Arg) n.500G>C n.969G>C n.381-57G>C c.784G>C (p.Gly262Arg) c.514G>C (p.Gly172Arg) | |
11 | g.123059160C>T | CA383058306 | HSPA8 | c.1222G>A (p.Gly408Arg) c.-6G>A (n.-6G>A) c.1165G>A (p.Gly389Arg) n.500G>A n.969G>A n.381-57G>A c.784G>A (p.Gly262Arg) c.514G>A (p.Gly172Arg) | |
11 | g.123059161A= | CA2005596954 | HSPA8 | c.1221T= (p.Gly407=) c.-7T= (n.-7T=) c.1164T= (p.Gly388=) n.499T= n.968T= n.381-58T= c.783T= (p.Gly261=) c.513T= (p.Gly171=) | |
11 | g.123059161A>C | CA477385759 | HSPA8 | c.1221T>G (p.Gly407=) c.-7T>G (n.-7T>G) c.1164T>G (p.Gly388=) n.499T>G n.968T>G n.381-58T>G c.783T>G (p.Gly261=) c.513T>G (p.Gly171=) | |
11 | g.123059161A>G | CA477385758 | HSPA8 | c.1221T>C (p.Gly407=) c.-7T>C (n.-7T>C) c.1164T>C (p.Gly388=) n.499T>C n.968T>C n.381-58T>C c.783T>C (p.Gly261=) c.513T>C (p.Gly171=) | dbSNP |
11 | g.123059161A>T | CA477385757 | HSPA8 | c.1221T>A (p.Gly407=) c.-7T>A (n.-7T>A) c.1164T>A (p.Gly388=) n.499T>A n.968T>A n.381-58T>A c.783T>A (p.Gly261=) c.513T>A (p.Gly171=) |