Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
11 | g.123059162C>A | CA383058311 | HSPA8 | c.1220G>T (p.Gly407Val) c.-8G>T (n.-8G>T) c.1163G>T (p.Gly388Val) n.498G>T n.967G>T n.381-59G>T c.782G>T (p.Gly261Val) c.512G>T (p.Gly171Val) | |
11 | g.123059162C>G | CA383058313 | HSPA8 | c.1220G>C (p.Gly407Ala) c.-8G>C (n.-8G>C) c.1163G>C (p.Gly388Ala) n.498G>C n.967G>C n.381-59G>C c.782G>C (p.Gly261Ala) c.512G>C (p.Gly171Ala) | |
11 | g.123059162C>T | CA383058309 | HSPA8 | c.1220G>A (p.Gly407Asp) c.-8G>A (n.-8G>A) c.1163G>A (p.Gly388Asp) n.498G>A n.967G>A n.381-59G>A c.782G>A (p.Gly261Asp) c.512G>A (p.Gly171Asp) | |
11 | g.123059163C>A | CA383058315 | HSPA8 | c.1219G>T (p.Gly407Cys) c.-9G>T (n.-9G>T) c.1162G>T (p.Gly388Cys) n.497G>T n.966G>T n.381-60G>T c.781G>T (p.Gly261Cys) c.511G>T (p.Gly171Cys) | |
11 | g.123059163C>G | CA383058319 | HSPA8 | c.1219G>C (p.Gly407Arg) c.-9G>C (n.-9G>C) c.1162G>C (p.Gly388Arg) n.497G>C n.966G>C n.381-60G>C c.781G>C (p.Gly261Arg) c.511G>C (p.Gly171Arg) | |
11 | g.123059163C>T | CA383058317 | HSPA8 | c.1219G>A (p.Gly407Ser) c.-9G>A (n.-9G>A) c.1162G>A (p.Gly388Ser) n.497G>A n.966G>A n.381-60G>A c.781G>A (p.Gly261Ser) c.511G>A (p.Gly171Ser) | |
11 | g.123059164A= | CA2005596958 | HSPA8 | c.1218T= (p.Ala406=) c.-10T= (n.-10T=) c.1161T= (p.Ala387=) n.496T= n.965T= n.381-61T= c.780T= (p.Ala260=) c.510T= (p.Ala170=) | |
11 | g.123059164A>C | CA477385760 | HSPA8 | c.1218T>G (p.Ala406=) c.-10T>G (n.-10T>G) c.1161T>G (p.Ala387=) n.496T>G n.965T>G n.381-61T>G c.780T>G (p.Ala260=) c.510T>G (p.Ala170=) | dbSNP |
11 | g.123059164A>G | CA477385761 | HSPA8 | c.1218T>C (p.Ala406=) c.-10T>C (n.-10T>C) c.1161T>C (p.Ala387=) n.496T>C n.965T>C n.381-61T>C c.780T>C (p.Ala260=) c.510T>C (p.Ala170=) | |
11 | g.123059164A>T | CA477385762 | HSPA8 | c.1218T>A (p.Ala406=) c.-10T>A (n.-10T>A) c.1161T>A (p.Ala387=) n.496T>A n.965T>A n.381-61T>A c.780T>A (p.Ala260=) c.510T>A (p.Ala170=) | |
11 | g.123059165G>A | CA383058321 | HSPA8 | c.1217C>T (p.Ala406Val) c.-11C>T (n.-11C>T) c.1160C>T (p.Ala387Val) n.495C>T n.964C>T n.381-62C>T c.779C>T (p.Ala260Val) c.509C>T (p.Ala170Val) | dbSNP |
11 | g.123059165G>C | CA383058322 | HSPA8 | c.1217C>G (p.Ala406Gly) c.-11C>G (n.-11C>G) c.1160C>G (p.Ala387Gly) n.495C>G n.964C>G n.381-62C>G c.779C>G (p.Ala260Gly) c.509C>G (p.Ala170Gly) | |
11 | g.123059165G>T | CA383058324 | HSPA8 | c.1217C>A (p.Ala406Asp) c.-11C>A (n.-11C>A) c.1160C>A (p.Ala387Asp) n.495C>A n.964C>A n.381-62C>A c.779C>A (p.Ala260Asp) c.509C>A (p.Ala170Asp) | |
11 | g.123059166C>A | CA383058326 | HSPA8 | c.1216G>T (p.Ala406Ser) c.-12G>T (n.-12G>T) c.1159G>T (p.Ala387Ser) n.494G>T n.963G>T n.381-63G>T c.778G>T (p.Ala260Ser) c.508G>T (p.Ala170Ser) | |
11 | g.123059166C>G | CA383058328 | HSPA8 | c.1216G>C (p.Ala406Pro) c.-12G>C (n.-12G>C) c.1159G>C (p.Ala387Pro) n.494G>C n.963G>C n.381-63G>C c.778G>C (p.Ala260Pro) c.508G>C (p.Ala170Pro) | |
11 | g.123059166C>T | CA383058330 | HSPA8 | c.1216G>A (p.Ala406Thr) c.-12G>A (n.-12G>A) c.1159G>A (p.Ala387Thr) n.494G>A n.963G>A n.381-63G>A c.778G>A (p.Ala260Thr) c.508G>A (p.Ala170Thr) | gnomAD v4 |
11 | g.123059167A>C | CA477385766 | HSPA8 | c.1215T>G (p.Thr405=) c.-13T>G (n.-13T>G) c.1158T>G (p.Thr386=) n.493T>G n.962T>G n.381-64T>G c.777T>G (p.Thr259=) c.507T>G (p.Thr169=) | |
11 | g.123059167A>G | CA477385765 | HSPA8 | c.1215T>C (p.Thr405=) c.-13T>C (n.-13T>C) c.1158T>C (p.Thr386=) n.493T>C n.962T>C n.381-64T>C c.777T>C (p.Thr259=) c.507T>C (p.Thr169=) | |
11 | g.123059167A>T | CA477385764 | HSPA8 | c.1215T>A (p.Thr405=) c.-13T>A (n.-13T>A) c.1158T>A (p.Thr386=) n.493T>A n.962T>A n.381-64T>A c.777T>A (p.Thr259=) c.507T>A (p.Thr169=) | |
11 | g.123059168G>A | CA383058332 | HSPA8 | c.1214C>T (p.Thr405Ile) c.-14C>T (n.-14C>T) c.1157C>T (p.Thr386Ile) n.492C>T n.961C>T n.381-65C>T c.776C>T (p.Thr259Ile) c.506C>T (p.Thr169Ile) | |
11 | g.123059168G>C | CA383058334 | HSPA8 | c.1214C>G (p.Thr405Ser) c.-14C>G (n.-14C>G) c.1157C>G (p.Thr386Ser) n.492C>G n.961C>G n.381-65C>G c.776C>G (p.Thr259Ser) c.506C>G (p.Thr169Ser) | COSMIC |
11 | g.123059168G>T | CA383058336 | HSPA8 | c.1214C>A (p.Thr405Asn) c.-14C>A (n.-14C>A) c.1157C>A (p.Thr386Asn) n.492C>A n.961C>A n.381-65C>A c.776C>A (p.Thr259Asn) c.506C>A (p.Thr169Asn) | |
11 | g.123059169T>A | CA383058338 | HSPA8 | c.1213A>T (p.Thr405Ser) c.-15A>T (n.-15A>T) c.1156A>T (p.Thr386Ser) n.491A>T n.960A>T n.381-66A>T c.775A>T (p.Thr259Ser) c.505A>T (p.Thr169Ser) | |
11 | g.123059169T>C | CA383058340 | HSPA8 | c.1213A>G (p.Thr405Ala) c.-15A>G (n.-15A>G) c.1156A>G (p.Thr386Ala) n.491A>G n.960A>G n.381-66A>G c.775A>G (p.Thr259Ala) c.505A>G (p.Thr169Ala) | |
11 | g.123059169T>G | CA383058342 | HSPA8 | c.1213A>C (p.Thr405Pro) c.-15A>C (n.-15A>C) c.1156A>C (p.Thr386Pro) n.491A>C n.960A>C n.381-66A>C c.775A>C (p.Thr259Pro) c.505A>C (p.Thr169Pro) | |
11 | g.123059170T>A | CA383058344 | HSPA8 | c.1212A>T (p.Glu404Asp) c.-16A>T (n.-16A>T) c.1155A>T (p.Glu385Asp) n.490A>T n.959A>T n.381-67A>T c.774A>T (p.Glu258Asp) c.504A>T (p.Glu168Asp) | |
11 | g.123059170T>C | CA477385767 | HSPA8 | c.1212A>G (p.Glu404=) c.-16A>G (n.-16A>G) c.1155A>G (p.Glu385=) n.490A>G n.959A>G n.381-67A>G c.774A>G (p.Glu258=) c.504A>G (p.Glu168=) | |
11 | g.123059170T>G | CA383058346 | HSPA8 | c.1212A>C (p.Glu404Asp) c.-16A>C (n.-16A>C) c.1155A>C (p.Glu385Asp) n.490A>C n.959A>C n.381-67A>C c.774A>C (p.Glu258Asp) c.504A>C (p.Glu168Asp) | |
11 | g.123059171T>A | CA383058348 | HSPA8 | c.1211A>T (p.Glu404Val) c.-17A>T (n.-17A>T) c.1154A>T (p.Glu385Val) n.489A>T n.958A>T n.381-68A>T c.773A>T (p.Glu258Val) c.503A>T (p.Glu168Val) | |
11 | g.123059171T>C | CA383058349 | HSPA8 | c.1211A>G (p.Glu404Gly) c.-17A>G (n.-17A>G) c.1154A>G (p.Glu385Gly) n.489A>G n.958A>G n.381-68A>G c.773A>G (p.Glu258Gly) c.503A>G (p.Glu168Gly) | |
11 | g.123059171T>G | CA383058351 | HSPA8 | c.1211A>C (p.Glu404Ala) c.-17A>C (n.-17A>C) c.1154A>C (p.Glu385Ala) n.489A>C n.958A>C n.381-68A>C c.773A>C (p.Glu258Ala) c.503A>C (p.Glu168Ala) | |
11 | g.123059172C>A | CA383058352 | HSPA8 | c.1210G>T (p.Glu404Ter) c.-18G>T (n.-18G>T) c.1153G>T (p.Glu385Ter) n.488G>T n.957G>T n.381-69G>T c.772G>T (p.Glu258Ter) c.502G>T (p.Glu168Ter) | |
11 | g.123059172C>G | CA383058354 | HSPA8 | c.1210G>C (p.Glu404Gln) c.-18G>C (n.-18G>C) c.1153G>C (p.Glu385Gln) n.488G>C n.957G>C n.381-69G>C c.772G>C (p.Glu258Gln) c.502G>C (p.Glu168Gln) | |
11 | g.123059172C>T | CA383058356 | HSPA8 | c.1210G>A (p.Glu404Lys) c.-18G>A (n.-18G>A) c.1153G>A (p.Glu385Lys) n.488G>A n.957G>A n.381-69G>A c.772G>A (p.Glu258Lys) c.502G>A (p.Glu168Lys) | |
11 | g.123059173A>C | CA383058358 | HSPA8 | c.1209T>G (p.Ile403Met) c.-19T>G (n.-19T>G) c.1152T>G (p.Ile384Met) n.487T>G n.956T>G n.381-70T>G c.771T>G (p.Ile257Met) c.501T>G (p.Ile167Met) | |
11 | g.123059173A>G | CA477385773 | HSPA8 | c.1209T>C (p.Ile403=) c.-19T>C (n.-19T>C) c.1152T>C (p.Ile384=) n.487T>C n.956T>C n.381-70T>C c.771T>C (p.Ile257=) c.501T>C (p.Ile167=) | |
11 | g.123059173A>T | CA477385775 | HSPA8 | c.1209T>A (p.Ile403=) c.-19T>A (n.-19T>A) c.1152T>A (p.Ile384=) n.487T>A n.956T>A n.381-70T>A c.771T>A (p.Ile257=) c.501T>A (p.Ile167=) | |
11 | g.123059174A>C | CA383058360 | HSPA8 | c.1208T>G (p.Ile403Ser) c.-20T>G (n.-20T>G) c.1151T>G (p.Ile384Ser) n.486T>G n.955T>G n.381-71T>G c.770T>G (p.Ile257Ser) c.500T>G (p.Ile167Ser) | |
11 | g.123059174A>G | CA383058362 | HSPA8 | c.1208T>C (p.Ile403Thr) c.-20T>C (n.-20T>C) c.1151T>C (p.Ile384Thr) n.486T>C n.955T>C n.381-71T>C c.770T>C (p.Ile257Thr) c.500T>C (p.Ile167Thr) | |
11 | g.123059174A>T | CA383058364 | HSPA8 | c.1208T>A (p.Ile403Asn) c.-20T>A (n.-20T>A) c.1151T>A (p.Ile384Asn) n.486T>A n.955T>A n.381-71T>A c.770T>A (p.Ile257Asn) c.500T>A (p.Ile167Asn) | |
11 | g.123059175T>A | CA383058369 | HSPA8 | c.1207A>T (p.Ile403Phe) c.-21A>T (n.-21A>T) c.1150A>T (p.Ile384Phe) n.485A>T n.954A>T n.381-72A>T c.769A>T (p.Ile257Phe) c.499A>T (p.Ile167Phe) | |
11 | g.123059175T>C | CA383058371 | HSPA8 | c.1207A>G (p.Ile403Val) c.-21A>G (n.-21A>G) c.1150A>G (p.Ile384Val) n.485A>G n.954A>G n.381-72A>G c.769A>G (p.Ile257Val) c.499A>G (p.Ile167Val) | dbSNP COSMIC |
11 | g.123059175T>G | CA383058366 | HSPA8 | c.1207A>C (p.Ile403Leu) c.-21A>C (n.-21A>C) c.1150A>C (p.Ile384Leu) n.485A>C n.954A>C n.381-72A>C c.769A>C (p.Ile257Leu) c.499A>C (p.Ile167Leu) | |
11 | g.123059175T= | CA2005596967 | HSPA8 | c.1207A= (p.Ile403=) c.-21A= (n.-21A=) c.1150A= (p.Ile384=) n.485A= n.954A= n.381-72A= c.769A= (p.Ile257=) c.499A= (p.Ile167=) | |
11 | g.123059176A= | CA2005596969 | HSPA8 | c.1206T= (p.Gly402=) c.-22T= (n.-22T=) c.1149T= (p.Gly383=) n.484T= n.953T= n.381-73T= c.768T= (p.Gly256=) c.498T= (p.Gly166=) | |
11 | g.123059176A>C | CA477385785 | HSPA8 | c.1206T>G (p.Gly402=) c.-22T>G (n.-22T>G) c.1149T>G (p.Gly383=) n.484T>G n.953T>G n.381-73T>G c.768T>G (p.Gly256=) c.498T>G (p.Gly166=) | dbSNP |
11 | g.123059176A>G | CA477385787 | HSPA8 | c.1206T>C (p.Gly402=) c.-22T>C (n.-22T>C) c.1149T>C (p.Gly383=) n.484T>C n.953T>C n.381-73T>C c.768T>C (p.Gly256=) c.498T>C (p.Gly166=) | dbSNP |
11 | g.123059176A>T | CA477385789 | HSPA8 | c.1206T>A (p.Gly402=) c.-22T>A (n.-22T>A) c.1149T>A (p.Gly383=) n.484T>A n.953T>A n.381-73T>A c.768T>A (p.Gly256=) c.498T>A (p.Gly166=) | |
11 | g.123059177C>A | CA383058373 | HSPA8 | c.1205G>T (p.Gly402Val) c.-23G>T (n.-23G>T) c.1148G>T (p.Gly383Val) n.483G>T n.952G>T n.381-74G>T c.767G>T (p.Gly256Val) c.497G>T (p.Gly166Val) | |
11 | g.123059177C>G | CA383058375 | HSPA8 | c.1205G>C (p.Gly402Ala) c.-23G>C (n.-23G>C) c.1148G>C (p.Gly383Ala) n.483G>C n.952G>C n.381-74G>C c.767G>C (p.Gly256Ala) c.497G>C (p.Gly166Ala) | |
11 | g.123059177C>T | CA383058377 | HSPA8 | c.1205G>A (p.Gly402Asp) c.-23G>A (n.-23G>A) c.1148G>A (p.Gly383Asp) n.483G>A n.952G>A n.381-74G>A c.767G>A (p.Gly256Asp) c.497G>A (p.Gly166Asp) | |
11 | g.123059178C>A | CA383058380 | HSPA8 | c.1204G>T (p.Gly402Cys) c.-24G>T (n.-24G>T) c.1147G>T (p.Gly383Cys) n.482G>T n.951G>T n.381-75G>T c.766G>T (p.Gly256Cys) c.496G>T (p.Gly166Cys) | |
11 | g.123059178C>G | CA383058381 | HSPA8 | c.1204G>C (p.Gly402Arg) c.-24G>C (n.-24G>C) c.1147G>C (p.Gly383Arg) n.482G>C n.951G>C n.381-75G>C c.766G>C (p.Gly256Arg) c.496G>C (p.Gly166Arg) | |
11 | g.123059178C>T | CA383058384 | HSPA8 | c.1204G>A (p.Gly402Ser) c.-24G>A (n.-24G>A) c.1147G>A (p.Gly383Ser) n.482G>A n.951G>A n.381-75G>A c.766G>A (p.Gly256Ser) c.496G>A (p.Gly166Ser) | COSMIC |
11 | g.123059179A= | CA2005596971 | HSPA8 | c.1203T= (p.Leu401=) c.-25T= (n.-25T=) c.1146T= (p.Leu382=) n.481T= n.950T= n.381-76T= c.765T= (p.Leu255=) c.495T= (p.Leu165=) | |
11 | g.123059179A>C | CA477385652 | HSPA8 | c.1203T>G (p.Leu401=) c.-25T>G (n.-25T>G) c.1146T>G (p.Leu382=) n.481T>G n.950T>G n.381-76T>G c.765T>G (p.Leu255=) c.495T>G (p.Leu165=) | |
11 | g.123059179A>G | CA477385653 | HSPA8 | c.1203T>C (p.Leu401=) c.-25T>C (n.-25T>C) c.1146T>C (p.Leu382=) n.481T>C n.950T>C n.381-76T>C c.765T>C (p.Leu255=) c.495T>C (p.Leu165=) | |
11 | g.123059179A>T | CA477385654 | HSPA8 | c.1203T>A (p.Leu401=) c.-25T>A (n.-25T>A) c.1146T>A (p.Leu382=) n.481T>A n.950T>A n.381-76T>A c.765T>A (p.Leu255=) c.495T>A (p.Leu165=) | dbSNP |
11 | g.123059180A= | CA2005596977 | HSPA8 | c.1202T= (p.Leu401=) c.-26T= (n.-26T=) c.1145T= (p.Leu382=) n.480T= n.949T= n.381-77T= c.764T= (p.Leu255=) c.494T= (p.Leu165=) | |
11 | g.123059180A>C | CA383058386 | HSPA8 | c.1202T>G (p.Leu401Arg) c.-26T>G (n.-26T>G) c.1145T>G (p.Leu382Arg) n.480T>G n.949T>G n.381-77T>G c.764T>G (p.Leu255Arg) c.494T>G (p.Leu165Arg) | |
11 | g.123059180A>G | CA383058388 | HSPA8 | c.1202T>C (p.Leu401Pro) c.-26T>C (n.-26T>C) c.1145T>C (p.Leu382Pro) n.480T>C n.949T>C n.381-77T>C c.764T>C (p.Leu255Pro) c.494T>C (p.Leu165Pro) | |
11 | g.123059180A>T | CA383058390 | HSPA8 | c.1202T>A (p.Leu401His) c.-26T>A (n.-26T>A) c.1145T>A (p.Leu382His) n.480T>A n.949T>A n.381-77T>A c.764T>A (p.Leu255His) c.494T>A (p.Leu165His) | |
11 | g.123059180_123059181insTTCT | CA2005596982 | HSPA8 | c.1201_1202insAGAA (p.Leu401GlnfsTer5) c.-27_-26insAGAA (n.-27_-26insAGAA) c.1144_1145insAGAA (p.Leu382GlnfsTer5) n.479_480insAGAA n.948_949insAGAA n.381-78_381-77insAGAA c.763_764insAGAA (p.Leu255GlnfsTer5) c.493_494insAGAA (p.Leu165GlnfsTer5) | dbSNP |
11 | g.123059181G>A | CA383058392 | HSPA8 | c.1201C>T (p.Leu401Phe) c.-27C>T (n.-27C>T) c.1144C>T (p.Leu382Phe) n.479C>T n.948C>T n.381-78C>T c.763C>T (p.Leu255Phe) c.493C>T (p.Leu165Phe) | |
11 | g.123059181G>C | CA383058394 | HSPA8 | c.1201C>G (p.Leu401Val) c.-27C>G (n.-27C>G) c.1144C>G (p.Leu382Val) n.479C>G n.948C>G n.381-78C>G c.763C>G (p.Leu255Val) c.493C>G (p.Leu165Val) | |
11 | g.123059181G>T | CA383058396 | HSPA8 | c.1201C>A (p.Leu401Ile) c.-27C>A (n.-27C>A) c.1144C>A (p.Leu382Ile) n.479C>A n.948C>A n.381-78C>A c.763C>A (p.Leu255Ile) c.493C>A (p.Leu165Ile) | dbSNP |
11 | g.123059182G>A | CA6332531 | HSPA8 | c.1200C>T (p.Ser400=) c.-28C>T (n.-28C>T) c.1143C>T (p.Ser381=) n.478C>T n.947C>T n.381-79C>T c.762C>T (p.Ser254=) c.492C>T (p.Ser164=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123059182G>C | CA477385656 | HSPA8 | c.1200C>G (p.Ser400=) c.-28C>G (n.-28C>G) c.1143C>G (p.Ser381=) n.478C>G n.947C>G n.381-79C>G c.762C>G (p.Ser254=) c.492C>G (p.Ser164=) | |
11 | g.123059182G= | CA2005596986 | HSPA8 | c.1200C= (p.Ser400=) c.-28C= (n.-28C=) c.1143C= (p.Ser381=) n.478C= n.947C= n.381-79C= c.762C= (p.Ser254=) c.492C= (p.Ser164=) | |
11 | g.123059182G>T | CA477385657 | HSPA8 | c.1200C>A (p.Ser400=) c.-28C>A (n.-28C>A) c.1143C>A (p.Ser381=) n.478C>A n.947C>A n.381-79C>A c.762C>A (p.Ser254=) c.492C>A (p.Ser164=) | |
11 | g.123059183G>A | CA383058403 | HSPA8 | c.1199C>T (p.Ser400Phe) c.-29C>T (n.-29C>T) c.1142C>T (p.Ser381Phe) n.477C>T n.946C>T n.381-80C>T c.761C>T (p.Ser254Phe) c.491C>T (p.Ser164Phe) | COSMIC |
11 | g.123059183G>C | CA383058401 | HSPA8 | c.1199C>G (p.Ser400Cys) c.-29C>G (n.-29C>G) c.1142C>G (p.Ser381Cys) n.477C>G n.946C>G n.381-80C>G c.761C>G (p.Ser254Cys) c.491C>G (p.Ser164Cys) | |
11 | g.123059183G>T | CA383058399 | HSPA8 | c.1199C>A (p.Ser400Tyr) c.-29C>A (n.-29C>A) c.1142C>A (p.Ser381Tyr) n.477C>A n.946C>A n.381-80C>A c.761C>A (p.Ser254Tyr) c.491C>A (p.Ser164Tyr) | |
11 | g.123059184A>C | CA383058405 | HSPA8 | c.1198T>G (p.Ser400Ala) c.-30T>G (n.-30T>G) c.1141T>G (p.Ser381Ala) n.476T>G n.945T>G n.381-81T>G c.760T>G (p.Ser254Ala) c.490T>G (p.Ser164Ala) | |
11 | g.123059184A>G | CA383058407 | HSPA8 | c.1198T>C (p.Ser400Pro) c.-30T>C (n.-30T>C) c.1141T>C (p.Ser381Pro) n.476T>C n.945T>C n.381-81T>C c.760T>C (p.Ser254Pro) c.490T>C (p.Ser164Pro) | |
11 | g.123059184A>T | CA383058409 | HSPA8 | c.1198T>A (p.Ser400Thr) c.-30T>A (n.-30T>A) c.1141T>A (p.Ser381Thr) n.476T>A n.945T>A n.381-81T>A c.760T>A (p.Ser254Thr) c.490T>A (p.Ser164Thr) | |
11 | g.123059185A= | CA2005597000 | HSPA8 | c.1197T= (p.Leu399=) c.-31T= (n.-31T=) c.1140T= (p.Leu380=) n.475T= n.944T= n.381-82T= c.759T= (p.Leu253=) c.489T= (p.Leu163=) | |
11 | g.123059185A>C | CA477385658 | HSPA8 | c.1197T>G (p.Leu399=) c.-31T>G (n.-31T>G) c.1140T>G (p.Leu380=) n.475T>G n.944T>G n.381-82T>G c.759T>G (p.Leu253=) c.489T>G (p.Leu163=) | |
11 | g.123059185A>G | CA477385660 | HSPA8 | c.1197T>C (p.Leu399=) c.-31T>C (n.-31T>C) c.1140T>C (p.Leu380=) n.475T>C n.944T>C n.381-82T>C c.759T>C (p.Leu253=) c.489T>C (p.Leu163=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.123059185A>T | CA477385659 | HSPA8 | c.1197T>A (p.Leu399=) c.-31T>A (n.-31T>A) c.1140T>A (p.Leu380=) n.475T>A n.944T>A n.381-82T>A c.759T>A (p.Leu253=) c.489T>A (p.Leu163=) | |
11 | g.123059186A>C | CA383058412 | HSPA8 | c.1196T>G (p.Leu399Arg) c.-32T>G (n.-32T>G) c.1139T>G (p.Leu380Arg) n.474T>G n.943T>G n.381-83T>G c.758T>G (p.Leu253Arg) c.488T>G (p.Leu163Arg) | |
11 | g.123059186A>G | CA383058414 | HSPA8 | c.1196T>C (p.Leu399Pro) c.-32T>C (n.-32T>C) c.1139T>C (p.Leu380Pro) n.474T>C n.943T>C n.381-83T>C c.758T>C (p.Leu253Pro) c.488T>C (p.Leu163Pro) | |
11 | g.123059186A>T | CA383058416 | HSPA8 | c.1196T>A (p.Leu399His) c.-32T>A (n.-32T>A) c.1139T>A (p.Leu380His) n.474T>A n.943T>A n.381-83T>A c.758T>A (p.Leu253His) c.488T>A (p.Leu163His) | |
11 | g.123059187G>A | CA6332532 | HSPA8 | c.1195C>T (p.Leu399Phe) c.-33C>T (n.-33C>T) c.1138C>T (p.Leu380Phe) n.473C>T n.942C>T n.381-84C>T c.757C>T (p.Leu253Phe) c.487C>T (p.Leu163Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.123059187G>C | CA383058420 | HSPA8 | c.1195C>G (p.Leu399Val) c.-33C>G (n.-33C>G) c.1138C>G (p.Leu380Val) n.473C>G n.942C>G n.381-84C>G c.757C>G (p.Leu253Val) c.487C>G (p.Leu163Val) | |
11 | g.123059187G= | CA2005597004 | HSPA8 | c.1195C= (p.Leu399=) c.-33C= (n.-33C=) c.1138C= (p.Leu380=) n.473C= n.942C= n.381-84C= c.757C= (p.Leu253=) c.487C= (p.Leu163=) | |
11 | g.123059187G>T | CA383058422 | HSPA8 | c.1195C>A (p.Leu399Ile) c.-33C>A (n.-33C>A) c.1138C>A (p.Leu380Ile) n.473C>A n.942C>A n.381-84C>A c.757C>A (p.Leu253Ile) c.487C>A (p.Leu163Ile) | |
11 | g.123059188A>C | CA477385666 | HSPA8 | c.1194T>G (p.Pro398=) c.-34T>G (n.-34T>G) c.1137T>G (p.Pro379=) n.472T>G n.941T>G n.381-85T>G c.756T>G (p.Pro252=) c.486T>G (p.Pro162=) | |
11 | g.123059188A>G | CA477385665 | HSPA8 | c.1194T>C (p.Pro398=) c.-34T>C (n.-34T>C) c.1137T>C (p.Pro379=) n.472T>C n.941T>C n.381-85T>C c.756T>C (p.Pro252=) c.486T>C (p.Pro162=) | gnomAD v4 |
11 | g.123059188A>T | CA477385664 | HSPA8 | c.1194T>A (p.Pro398=) c.-34T>A (n.-34T>A) c.1137T>A (p.Pro379=) n.472T>A n.941T>A n.381-85T>A c.756T>A (p.Pro252=) c.486T>A (p.Pro162=) | |
11 | g.123059189G>A | CA383058424 | HSPA8 | c.1193C>T (p.Pro398Leu) c.-35C>T (n.-35C>T) c.1136C>T (p.Pro379Leu) n.471C>T n.940C>T n.381-86C>T c.755C>T (p.Pro252Leu) c.485C>T (p.Pro162Leu) | |
11 | g.123059189G>C | CA383058426 | HSPA8 | c.1193C>G (p.Pro398Arg) c.-35C>G (n.-35C>G) c.1136C>G (p.Pro379Arg) n.471C>G n.940C>G n.381-86C>G c.755C>G (p.Pro252Arg) c.485C>G (p.Pro162Arg) | |
11 | g.123059189G>T | CA383058428 | HSPA8 | c.1193C>A (p.Pro398His) c.-35C>A (n.-35C>A) c.1136C>A (p.Pro379His) n.471C>A n.940C>A n.381-86C>A c.755C>A (p.Pro252His) c.485C>A (p.Pro162His) | |
11 | g.123059190G>A | CA383058435 | HSPA8 | c.1192C>T (p.Pro398Ser) c.-36C>T (n.-36C>T) c.1135C>T (p.Pro379Ser) n.470C>T n.939C>T n.381-87C>T c.754C>T (p.Pro252Ser) c.484C>T (p.Pro162Ser) | dbSNP gnomAD v2 |
11 | g.123059190G>C | CA383058433 | HSPA8 | c.1192C>G (p.Pro398Ala) c.-36C>G (n.-36C>G) c.1135C>G (p.Pro379Ala) n.470C>G n.939C>G n.381-87C>G c.754C>G (p.Pro252Ala) c.484C>G (p.Pro162Ala) | |
11 | g.123059190G= | CA2005597007 | HSPA8 | c.1192C= (p.Pro398=) c.-36C= (n.-36C=) c.1135C= (p.Pro379=) n.470C= n.939C= n.381-87C= c.754C= (p.Pro252=) c.484C= (p.Pro162=) | |
11 | g.123059190G>T | CA383058431 | HSPA8 | c.1192C>A (p.Pro398Thr) c.-36C>A (n.-36C>A) c.1135C>A (p.Pro379Thr) n.470C>A n.939C>A n.381-87C>A c.754C>A (p.Pro252Thr) c.484C>A (p.Pro162Thr) | |
11 | g.123059191A= | CA2005597025 | HSPA8 | c.1191T= (p.Thr397=) c.-37T= (n.-37T=) c.1134T= (p.Thr378=) n.469T= n.938T= n.381-88T= c.753T= (p.Thr251=) c.483T= (p.Thr161=) | |
11 | g.123059191A>C | CA477385668 | HSPA8 | c.1191T>G (p.Thr397=) c.-37T>G (n.-37T>G) c.1134T>G (p.Thr378=) n.469T>G n.938T>G n.381-88T>G c.753T>G (p.Thr251=) c.483T>G (p.Thr161=) | |
11 | g.123059191A>G | CA6332533 | HSPA8 | c.1191T>C (p.Thr397=) c.-37T>C (n.-37T>C) c.1134T>C (p.Thr378=) n.469T>C n.938T>C n.381-88T>C c.753T>C (p.Thr251=) c.483T>C (p.Thr161=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.123059191A>T | CA477385669 | HSPA8 | c.1191T>A (p.Thr397=) c.-37T>A (n.-37T>A) c.1134T>A (p.Thr378=) n.469T>A n.938T>A n.381-88T>A c.753T>A (p.Thr251=) c.483T>A (p.Thr161=) | |
11 | g.123059192G>A | CA383058442 | HSPA8 | c.1190C>T (p.Thr397Ile) c.-38C>T (n.-38C>T) c.1133C>T (p.Thr378Ile) n.468C>T n.937C>T n.381-89C>T c.752C>T (p.Thr251Ile) c.482C>T (p.Thr161Ile) | dbSNP gnomAD v4 |
11 | g.123059192G>C | CA383058439 | HSPA8 | c.1190C>G (p.Thr397Ser) c.-38C>G (n.-38C>G) c.1133C>G (p.Thr378Ser) n.468C>G n.937C>G n.381-89C>G c.752C>G (p.Thr251Ser) c.482C>G (p.Thr161Ser) | |
11 | g.123059192G= | CA2005597029 | HSPA8 | c.1190C= (p.Thr397=) c.-38C= (n.-38C=) c.1133C= (p.Thr378=) n.468C= n.937C= n.381-89C= c.752C= (p.Thr251=) c.482C= (p.Thr161=) | |
11 | g.123059192G>T | CA383058441 | HSPA8 | c.1190C>A (p.Thr397Asn) c.-38C>A (n.-38C>A) c.1133C>A (p.Thr378Asn) n.468C>A n.937C>A n.381-89C>A c.752C>A (p.Thr251Asn) c.482C>A (p.Thr161Asn) | |
11 | g.123059193T>A | CA383058446 | HSPA8 | c.1189A>T (p.Thr397Ser) c.-39A>T (n.-39A>T) c.1132A>T (p.Thr378Ser) n.467A>T n.936A>T n.381-90A>T c.751A>T (p.Thr251Ser) c.481A>T (p.Thr161Ser) | |
11 | g.123059193T>C | CA383058447 | HSPA8 | c.1189A>G (p.Thr397Ala) c.-39A>G (n.-39A>G) c.1132A>G (p.Thr378Ala) n.467A>G n.936A>G n.381-90A>G c.751A>G (p.Thr251Ala) c.481A>G (p.Thr161Ala) | |
11 | g.123059193T>G | CA383058449 | HSPA8 | c.1189A>C (p.Thr397Pro) c.-39A>C (n.-39A>C) c.1132A>C (p.Thr378Pro) n.467A>C n.936A>C n.381-90A>C c.751A>C (p.Thr251Pro) c.481A>C (p.Thr161Pro) | |
11 | g.123059194G>A | CA477385672 | HSPA8 | c.1188C>T (p.Val396=) c.-40C>T (n.-40C>T) c.1131C>T (p.Val377=) n.466C>T n.935C>T n.381-91C>T c.750C>T (p.Val250=) c.480C>T (p.Val160=) | |
11 | g.123059194G>C | CA477385673 | HSPA8 | c.1188C>G (p.Val396=) c.-40C>G (n.-40C>G) c.1131C>G (p.Val377=) n.466C>G n.935C>G n.381-91C>G c.750C>G (p.Val250=) c.480C>G (p.Val160=) | |
11 | g.123059194G>T | CA477385674 | HSPA8 | c.1188C>A (p.Val396=) c.-40C>A (n.-40C>A) c.1131C>A (p.Val377=) n.466C>A n.935C>A n.381-91C>A c.750C>A (p.Val250=) c.480C>A (p.Val160=) | |
11 | g.123059195A>C | CA383058451 | HSPA8 | c.1187T>G (p.Val396Gly) c.-41T>G (n.-41T>G) c.1130T>G (p.Val377Gly) n.465T>G n.934T>G n.381-92T>G c.749T>G (p.Val250Gly) c.479T>G (p.Val160Gly) | |
11 | g.123059195A>G | CA383058452 | HSPA8 | c.1187T>C (p.Val396Ala) c.-41T>C (n.-41T>C) c.1130T>C (p.Val377Ala) n.465T>C n.934T>C n.381-92T>C c.749T>C (p.Val250Ala) c.479T>C (p.Val160Ala) | |
11 | g.123059195A>T | CA383058454 | HSPA8 | c.1187T>A (p.Val396Asp) c.-41T>A (n.-41T>A) c.1130T>A (p.Val377Asp) n.465T>A n.934T>A n.381-92T>A c.749T>A (p.Val250Asp) c.479T>A (p.Val160Asp) | |
11 | g.123059196C>A | CA383058457 | HSPA8 | c.1186G>T (p.Val396Phe) c.-42G>T (n.-42G>T) c.1129G>T (p.Val377Phe) n.464G>T n.933G>T n.381-93G>T c.748G>T (p.Val250Phe) c.478G>T (p.Val160Phe) | dbSNP |
11 | g.123059196C>G | CA383058458 | HSPA8 | c.1186G>C (p.Val396Leu) c.-42G>C (n.-42G>C) c.1129G>C (p.Val377Leu) n.464G>C n.933G>C n.381-93G>C c.748G>C (p.Val250Leu) c.478G>C (p.Val160Leu) | |
11 | g.123059196C>T | CA383058460 | HSPA8 | c.1186G>A (p.Val396Ile) c.-42G>A (n.-42G>A) c.1129G>A (p.Val377Ile) n.464G>A n.933G>A n.381-93G>A c.748G>A (p.Val250Ile) c.478G>A (p.Val160Ile) | |
11 | g.123059197A= | CA2005597047 | HSPA8 | c.1185T= (p.Asp395=) c.-43T= (n.-43T=) c.1128T= (p.Asp376=) n.463T= n.932T= n.381-94T= c.747T= (p.Asp249=) c.477T= (p.Asp159=) | |
11 | g.123059197A>C | CA383058463 | HSPA8 | c.1185T>G (p.Asp395Glu) c.-43T>G (n.-43T>G) c.1128T>G (p.Asp376Glu) n.463T>G n.932T>G n.381-94T>G c.747T>G (p.Asp249Glu) c.477T>G (p.Asp159Glu) | |
11 | g.123059197A>G | CA477385678 | HSPA8 | c.1185T>C (p.Asp395=) c.-43T>C (n.-43T>C) c.1128T>C (p.Asp376=) n.463T>C n.932T>C n.381-94T>C c.747T>C (p.Asp249=) c.477T>C (p.Asp159=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123059197A>T | CA383058466 | HSPA8 | c.1185T>A (p.Asp395Glu) c.-43T>A (n.-43T>A) c.1128T>A (p.Asp376Glu) n.463T>A n.932T>A n.381-94T>A c.747T>A (p.Asp249Glu) c.477T>A (p.Asp159Glu) | |
11 | g.123059198T>A | CA383058467 | HSPA8 | c.1184A>T (p.Asp395Val) c.-44A>T (n.-44A>T) c.1127A>T (p.Asp376Val) n.462A>T n.931A>T n.381-95A>T c.746A>T (p.Asp249Val) c.476A>T (p.Asp159Val) | |
11 | g.123059198T>C | CA383058471 | HSPA8 | c.1184A>G (p.Asp395Gly) c.-44A>G (n.-44A>G) c.1127A>G (p.Asp376Gly) n.462A>G n.931A>G n.381-95A>G c.746A>G (p.Asp249Gly) c.476A>G (p.Asp159Gly) | |
11 | g.123059198T>G | CA383058469 | HSPA8 | c.1184A>C (p.Asp395Ala) c.-44A>C (n.-44A>C) c.1127A>C (p.Asp376Ala) n.462A>C n.931A>C n.381-95A>C c.746A>C (p.Asp249Ala) c.476A>C (p.Asp159Ala) | |
11 | g.123059199C>A | CA383058473 | HSPA8 | c.1183G>T (p.Asp395Tyr) c.-45G>T (n.-45G>T) c.1126G>T (p.Asp376Tyr) n.461G>T n.930G>T n.381-96G>T c.745G>T (p.Asp249Tyr) c.475G>T (p.Asp159Tyr) | |
11 | g.123059199C>G | CA383058475 | HSPA8 | c.1183G>C (p.Asp395His) c.-45G>C (n.-45G>C) c.1126G>C (p.Asp376His) n.461G>C n.930G>C n.381-96G>C c.745G>C (p.Asp249His) c.475G>C (p.Asp159His) | |
11 | g.123059199C>T | CA383058477 | HSPA8 | c.1183G>A (p.Asp395Asn) c.-45G>A (n.-45G>A) c.1126G>A (p.Asp376Asn) n.461G>A n.930G>A n.381-96G>A c.745G>A (p.Asp249Asn) c.475G>A (p.Asp159Asn) | |
11 | g.123059200C>A | CA383058478 | HSPA8 | c.1182G>T (p.Leu394Phe) c.-46G>T (n.-46G>T) c.1125G>T (p.Leu375Phe) n.460G>T n.929G>T n.381-97G>T c.744G>T (p.Leu248Phe) c.474G>T (p.Leu158Phe) | |
11 | g.123059200C>G | CA383058479 | HSPA8 | c.1182G>C (p.Leu394Phe) c.-46G>C (n.-46G>C) c.1125G>C (p.Leu375Phe) n.460G>C n.929G>C n.381-97G>C c.744G>C (p.Leu248Phe) c.474G>C (p.Leu158Phe) | |
11 | g.123059200C>T | CA477385680 | HSPA8 | c.1182G>A (p.Leu394=) c.-46G>A (n.-46G>A) c.1125G>A (p.Leu375=) n.460G>A n.929G>A n.381-97G>A c.744G>A (p.Leu248=) c.474G>A (p.Leu158=) | |
11 | g.123059201A>C | CA383058480 | HSPA8 | c.1181T>G (p.Leu394Trp) c.-47T>G (n.-47T>G) c.1124T>G (p.Leu375Trp) n.459T>G n.928T>G n.381-98T>G c.743T>G (p.Leu248Trp) c.473T>G (p.Leu158Trp) | |
11 | g.123059201A>G | CA383058481 | HSPA8 | c.1181T>C (p.Leu394Ser) c.-47T>C (n.-47T>C) c.1124T>C (p.Leu375Ser) n.459T>C n.928T>C n.381-98T>C c.743T>C (p.Leu248Ser) c.473T>C (p.Leu158Ser) | |
11 | g.123059201A>T | CA383058482 | HSPA8 | c.1181T>A (p.Leu394Ter) c.-47T>A (n.-47T>A) c.1124T>A (p.Leu375Ter) n.459T>A n.928T>A n.381-98T>A c.743T>A (p.Leu248Ter) c.473T>A (p.Leu158Ter) | |
11 | g.123059202A= | CA2005597053 | HSPA8 | c.1180T= (p.Leu394=) c.-48T= (n.-48T=) c.1123T= (p.Leu375=) n.458T= n.927T= n.381-99T= c.742T= (p.Leu248=) c.472T= (p.Leu158=) | |
11 | g.123059202A>C | CA383058483 | HSPA8 | c.1180T>G (p.Leu394Val) c.-48T>G (n.-48T>G) c.1123T>G (p.Leu375Val) n.458T>G n.927T>G n.381-99T>G c.742T>G (p.Leu248Val) c.472T>G (p.Leu158Val) | |
11 | g.123059202A>G | CA477385681 | HSPA8 | c.1180T>C (p.Leu394=) c.-48T>C (n.-48T>C) c.1123T>C (p.Leu375=) n.458T>C n.927T>C n.381-99T>C c.742T>C (p.Leu248=) c.472T>C (p.Leu158=) | dbSNP |
11 | g.123059202A>T | CA383058484 | HSPA8 | c.1180T>A (p.Leu394Met) c.-48T>A (n.-48T>A) c.1123T>A (p.Leu375Met) n.458T>A n.927T>A n.381-99T>A c.742T>A (p.Leu248Met) c.472T>A (p.Leu158Met) | |
11 | g.123059203G>A | CA6332534 | HSPA8 | c.1179C>T (p.Leu393=) c.-49C>T (n.-49C>T) c.1122C>T (p.Leu374=) n.457C>T n.926C>T n.381-100C>T c.741C>T (p.Leu247=) c.471C>T (p.Leu157=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.123059203G>C | CA477385684 | HSPA8 | c.1179C>G (p.Leu393=) c.-49C>G (n.-49C>G) c.1122C>G (p.Leu374=) n.457C>G n.926C>G n.381-100C>G c.741C>G (p.Leu247=) c.471C>G (p.Leu157=) | |
11 | g.123059203G= | CA2005597059 | HSPA8 | c.1179C= (p.Leu393=) c.-49C= (n.-49C=) c.1122C= (p.Leu374=) n.457C= n.926C= n.381-100C= c.741C= (p.Leu247=) c.471C= (p.Leu157=) | |
11 | g.123059203G>T | CA477385686 | HSPA8 | c.1179C>A (p.Leu393=) c.-49C>A (n.-49C>A) c.1122C>A (p.Leu374=) n.457C>A n.926C>A n.381-100C>A c.741C>A (p.Leu247=) c.471C>A (p.Leu157=) | dbSNP |
11 | g.123059204A>C | CA383058487 | HSPA8 | c.1178T>G (p.Leu393Arg) c.-50T>G (n.-50T>G) c.1121T>G (p.Leu374Arg) n.456T>G n.925T>G n.381-101T>G c.740T>G (p.Leu247Arg) c.470T>G (p.Leu157Arg) | |
11 | g.123059204A>G | CA383058486 | HSPA8 | c.1178T>C (p.Leu393Pro) c.-50T>C (n.-50T>C) c.1121T>C (p.Leu374Pro) n.456T>C n.925T>C n.381-101T>C c.740T>C (p.Leu247Pro) c.470T>C (p.Leu157Pro) | |
11 | g.123059204A>T | CA383058485 | HSPA8 | c.1178T>A (p.Leu393His) c.-50T>A (n.-50T>A) c.1121T>A (p.Leu374His) n.456T>A n.925T>A n.381-101T>A c.740T>A (p.Leu247His) c.470T>A (p.Leu157His) | |
11 | g.123059205G>A | CA383058490 | HSPA8 | c.1177C>T (p.Leu393Phe) c.-51C>T (n.-51C>T) c.1120C>T (p.Leu374Phe) n.455C>T n.924C>T n.381-102C>T c.739C>T (p.Leu247Phe) c.469C>T (p.Leu157Phe) | |
11 | g.123059205G>C | CA383058488 | HSPA8 | c.1177C>G (p.Leu393Val) c.-51C>G (n.-51C>G) c.1120C>G (p.Leu374Val) n.455C>G n.924C>G n.381-102C>G c.739C>G (p.Leu247Val) c.469C>G (p.Leu157Val) | dbSNP |
11 | g.123059205G>T | CA383058489 | HSPA8 | c.1177C>A (p.Leu393Ile) c.-51C>A (n.-51C>A) c.1120C>A (p.Leu374Ile) n.455C>A n.924C>A n.381-102C>A c.739C>A (p.Leu247Ile) c.469C>A (p.Leu157Ile) | |
11 | g.123059206C>A | CA477385688 | HSPA8 | c.1176G>T (p.Leu392=) c.-52G>T (n.-52G>T) c.1119G>T (p.Leu373=) n.454G>T n.923G>T n.381-103G>T c.738G>T (p.Leu246=) c.468G>T (p.Leu156=) | |
11 | g.123059206C= | CA2005597064 | HSPA8 | c.1176G= (p.Leu392=) c.-52G= (n.-52G=) c.1119G= (p.Leu373=) n.454G= n.923G= n.381-103G= c.738G= (p.Leu246=) c.468G= (p.Leu156=) | |
11 | g.123059206C>G | CA477385687 | HSPA8 | c.1176G>C (p.Leu392=) c.-52G>C (n.-52G>C) c.1119G>C (p.Leu373=) n.454G>C n.923G>C n.381-103G>C c.738G>C (p.Leu246=) c.468G>C (p.Leu156=) | gnomAD v4 |
11 | g.123059206C>T | CA6332535 | HSPA8 | c.1176G>A (p.Leu392=) c.-52G>A (n.-52G>A) c.1119G>A (p.Leu373=) n.454G>A n.923G>A n.381-103G>A c.738G>A (p.Leu246=) c.468G>A (p.Leu156=) | dbSNP ExAC gnomAD v2 |
11 | g.123059207A>C | CA383058491 | HSPA8 | c.1175T>G (p.Leu392Arg) c.-53T>G (n.-53T>G) c.1118T>G (p.Leu373Arg) n.453T>G n.922T>G n.381-104T>G c.737T>G (p.Leu246Arg) c.467T>G (p.Leu156Arg) | |
11 | g.123059207A>G | CA383058492 | HSPA8 | c.1175T>C (p.Leu392Pro) c.-53T>C (n.-53T>C) c.1118T>C (p.Leu373Pro) n.453T>C n.922T>C n.381-104T>C c.737T>C (p.Leu246Pro) c.467T>C (p.Leu156Pro) | |
11 | g.123059207A>T | CA383058493 | HSPA8 | c.1175T>A (p.Leu392Gln) c.-53T>A (n.-53T>A) c.1118T>A (p.Leu373Gln) n.453T>A n.922T>A n.381-104T>A c.737T>A (p.Leu246Gln) c.467T>A (p.Leu156Gln) | |
11 | g.123059208G>A | CA6332536 | HSPA8 | c.1174C>T (p.Leu392=) c.-54C>T (n.-54C>T) c.1117C>T (p.Leu373=) n.452C>T n.921C>T n.381-105C>T c.736C>T (p.Leu246=) c.466C>T (p.Leu156=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123059208G>C | CA383058494 | HSPA8 | c.1174C>G (p.Leu392Val) c.-54C>G (n.-54C>G) c.1117C>G (p.Leu373Val) n.452C>G n.921C>G n.381-105C>G c.736C>G (p.Leu246Val) c.466C>G (p.Leu156Val) | |
11 | g.123059208G= | CA2005597073 | HSPA8 | c.1174C= (p.Leu392=) c.-54C= (n.-54C=) c.1117C= (p.Leu373=) n.452C= n.921C= n.381-105C= c.736C= (p.Leu246=) c.466C= (p.Leu156=) | |
11 | g.123059208G>T | CA383058495 | HSPA8 | c.1174C>A (p.Leu392Met) c.-54C>A (n.-54C>A) c.1117C>A (p.Leu373Met) n.452C>A n.921C>A n.381-105C>A c.736C>A (p.Leu246Met) c.466C>A (p.Leu156Met) | |
11 | g.123059209C>A | CA383058496 | HSPA8 | c.1173G>T (p.Leu391Phe) c.-55G>T (n.-55G>T) c.1116G>T (p.Leu372Phe) n.451G>T n.920G>T n.381-106G>T c.735G>T (p.Leu245Phe) c.465G>T (p.Leu155Phe) | gnomAD v4 |
11 | g.123059209C>G | CA383058497 | HSPA8 | c.1173G>C (p.Leu391Phe) c.-55G>C (n.-55G>C) c.1116G>C (p.Leu372Phe) n.451G>C n.920G>C n.381-106G>C c.735G>C (p.Leu245Phe) c.465G>C (p.Leu155Phe) | |
11 | g.123059209C>T | CA477385690 | HSPA8 | c.1173G>A (p.Leu391=) c.-55G>A (n.-55G>A) c.1116G>A (p.Leu372=) n.451G>A n.920G>A n.381-106G>A c.735G>A (p.Leu245=) c.465G>A (p.Leu155=) | |
11 | g.123059210A>C | CA383058498 | HSPA8 | c.1172T>G (p.Leu391Trp) c.-56T>G (n.-56T>G) c.1115T>G (p.Leu372Trp) n.450T>G n.919T>G n.381-107T>G c.734T>G (p.Leu245Trp) c.464T>G (p.Leu155Trp) | |
11 | g.123059210A>G | CA383058499 | HSPA8 | c.1172T>C (p.Leu391Ser) c.-56T>C (n.-56T>C) c.1115T>C (p.Leu372Ser) n.450T>C n.919T>C n.381-107T>C c.734T>C (p.Leu245Ser) c.464T>C (p.Leu155Ser) | |
11 | g.123059210A>T | CA383058500 | HSPA8 | c.1172T>A (p.Leu391Ter) c.-56T>A (n.-56T>A) c.1115T>A (p.Leu372Ter) n.450T>A n.919T>A n.381-107T>A c.734T>A (p.Leu245Ter) c.464T>A (p.Leu155Ter) | |
11 | g.123059211A>C | CA383058501 | HSPA8 | c.1171T>G (p.Leu391Val) c.-57T>G (n.-57T>G) c.1114T>G (p.Leu372Val) n.449T>G n.918T>G n.381-108T>G c.733T>G (p.Leu245Val) c.463T>G (p.Leu155Val) | COSMIC |
11 | g.123059211A>G | CA477385694 | HSPA8 | c.1171T>C (p.Leu391=) c.-57T>C (n.-57T>C) c.1114T>C (p.Leu372=) n.449T>C n.918T>C n.381-108T>C c.733T>C (p.Leu245=) c.463T>C (p.Leu155=) | gnomAD v4 |
11 | g.123059211A>T | CA383058502 | HSPA8 | c.1171T>A (p.Leu391Met) c.-57T>A (n.-57T>A) c.1114T>A (p.Leu372Met) n.449T>A n.918T>A n.381-108T>A c.733T>A (p.Leu245Met) c.463T>A (p.Leu155Met) | |
11 | g.123059212A= | CA2005597075 | HSPA8 | c.1170T= (p.Asp390=) c.-58T= (n.-58T=) c.1113T= (p.Asp371=) n.448T= n.917T= n.381-109T= c.732T= (p.Asp244=) c.462T= (p.Asp154=) | |
11 | g.123059212A>C | CA383058503 | HSPA8 | c.1170T>G (p.Asp390Glu) c.-58T>G (n.-58T>G) c.1113T>G (p.Asp371Glu) n.448T>G n.917T>G n.381-109T>G c.732T>G (p.Asp244Glu) c.462T>G (p.Asp154Glu) | |
11 | g.123059212A>G | CA477385695 | HSPA8 | c.1170T>C (p.Asp390=) c.-58T>C (n.-58T>C) c.1113T>C (p.Asp371=) n.448T>C n.917T>C n.381-109T>C c.732T>C (p.Asp244=) c.462T>C (p.Asp154=) | dbSNP gnomAD v4 |
11 | g.123059212A>T | CA383058504 | HSPA8 | c.1170T>A (p.Asp390Glu) c.-58T>A (n.-58T>A) c.1113T>A (p.Asp371Glu) n.448T>A n.917T>A n.381-109T>A c.732T>A (p.Asp244Glu) c.462T>A (p.Asp154Glu) | |
11 | g.123059212_123059222delinsATCTTGAACAT | CA2005597076 | HSPA8 | c.1160_1170delinsATGTTCAAGAT (p.Asn387=) c.-68_-58delinsATGTTCAAGAT (n.-68_-58delinsATGTTCAAGAT) c.1103_1113delinsATGTTCAAGAT (p.Asn368=) n.438_448delinsATGTTCAAGAT n.907_917delinsATGTTCAAGAT n.381-119_381-109delinsATGTTCAAGAT c.722_732delinsATGTTCAAGAT (p.Asn241=) c.452_462delinsATGTTCAAGAT (p.Asn151=) | |
11 | g.123059213T>A | CA383058505 | HSPA8 | c.1169A>T (p.Asp390Val) c.-59A>T (n.-59A>T) c.1112A>T (p.Asp371Val) n.447A>T n.916A>T n.381-110A>T c.731A>T (p.Asp244Val) c.461A>T (p.Asp154Val) | |
11 | g.123059213T>C | CA383058506 | HSPA8 | c.1169A>G (p.Asp390Gly) c.-59A>G (n.-59A>G) c.1112A>G (p.Asp371Gly) n.447A>G n.916A>G n.381-110A>G c.731A>G (p.Asp244Gly) c.461A>G (p.Asp154Gly) | |
11 | g.123059213T>G | CA383058507 | HSPA8 | c.1169A>C (p.Asp390Ala) c.-59A>C (n.-59A>C) c.1112A>C (p.Asp371Ala) n.447A>C n.916A>C n.381-110A>C c.731A>C (p.Asp244Ala) c.461A>C (p.Asp154Ala) | |
11 | g.123059216_123059225del | CA2005597081 | HSPA8 | c.1160_1169del (p.Asn387IlefsTer21) c.-68_-59del (n.-68_-59del) c.1103_1112del (p.Asn368IlefsTer21) n.438_447del n.907_916del n.381-119_381-110del c.722_731del (p.Asn241IlefsTer21) c.452_461del (p.Asn151IlefsTer21) | dbSNP |
11 | g.123059214C>A | CA383058508 | HSPA8 | c.1168G>T (p.Asp390Tyr) c.-60G>T (n.-60G>T) c.1111G>T (p.Asp371Tyr) n.446G>T n.915G>T n.381-111G>T c.730G>T (p.Asp244Tyr) c.460G>T (p.Asp154Tyr) | |
11 | g.123059214C>G | CA383058509 | HSPA8 | c.1168G>C (p.Asp390His) c.-60G>C (n.-60G>C) c.1111G>C (p.Asp371His) n.446G>C n.915G>C n.381-111G>C c.730G>C (p.Asp244His) c.460G>C (p.Asp154His) | |
11 | g.123059214C>T | CA383058510 | HSPA8 | c.1168G>A (p.Asp390Asn) c.-60G>A (n.-60G>A) c.1111G>A (p.Asp371Asn) n.446G>A n.915G>A n.381-111G>A c.730G>A (p.Asp244Asn) c.460G>A (p.Asp154Asn) | |
11 | g.123059215T>A | CA383058511 | HSPA8 | c.1167A>T (p.Gln389His) c.-61A>T (n.-61A>T) c.1110A>T (p.Gln370His) n.445A>T n.914A>T n.381-112A>T c.729A>T (p.Gln243His) c.459A>T (p.Gln153His) | |
11 | g.123059215T>C | CA477385697 | HSPA8 | c.1167A>G (p.Gln389=) c.-61A>G (n.-61A>G) c.1110A>G (p.Gln370=) n.445A>G n.914A>G n.381-112A>G c.729A>G (p.Gln243=) c.459A>G (p.Gln153=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.123059215T>G | CA383058512 | HSPA8 | c.1167A>C (p.Gln389His) c.-61A>C (n.-61A>C) c.1110A>C (p.Gln370His) n.445A>C n.914A>C n.381-112A>C c.729A>C (p.Gln243His) c.459A>C (p.Gln153His) | |
11 | g.123059215T= | CA2005597085 | HSPA8 | c.1167A= (p.Gln389=) c.-61A= (n.-61A=) c.1110A= (p.Gln370=) n.445A= n.914A= n.381-112A= c.729A= (p.Gln243=) c.459A= (p.Gln153=) | |
11 | g.123059216T>A | CA383058513 | HSPA8 | c.1166A>T (p.Gln389Leu) c.-62A>T (n.-62A>T) c.1109A>T (p.Gln370Leu) n.444A>T n.913A>T n.381-113A>T c.728A>T (p.Gln243Leu) c.458A>T (p.Gln153Leu) | |
11 | g.123059216T>C | CA383058514 | HSPA8 | c.1166A>G (p.Gln389Arg) c.-62A>G (n.-62A>G) c.1109A>G (p.Gln370Arg) n.444A>G n.913A>G n.381-113A>G c.728A>G (p.Gln243Arg) c.458A>G (p.Gln153Arg) | |
11 | g.123059216T>G | CA383058515 | HSPA8 | c.1166A>C (p.Gln389Pro) c.-62A>C (n.-62A>C) c.1109A>C (p.Gln370Pro) n.444A>C n.913A>C n.381-113A>C c.728A>C (p.Gln243Pro) c.458A>C (p.Gln153Pro) | |
11 | g.123059217G>A | CA383058518 | HSPA8 | c.1165C>T (p.Gln389Ter) c.-63C>T (n.-63C>T) c.1108C>T (p.Gln370Ter) n.443C>T n.912C>T n.381-114C>T c.727C>T (p.Gln243Ter) c.457C>T (p.Gln153Ter) | |
11 | g.123059217G>C | CA383058517 | HSPA8 | c.1165C>G (p.Gln389Glu) c.-63C>G (n.-63C>G) c.1108C>G (p.Gln370Glu) n.443C>G n.912C>G n.381-114C>G c.727C>G (p.Gln243Glu) c.457C>G (p.Gln153Glu) | dbSNP |
11 | g.123059217G= | CA2005597095 | HSPA8 | c.1165C= (p.Gln389=) c.-63C= (n.-63C=) c.1108C= (p.Gln370=) n.443C= n.912C= n.381-114C= c.727C= (p.Gln243=) c.457C= (p.Gln153=) | |
11 | g.123059217G>T | CA383058516 | HSPA8 | c.1165C>A (p.Gln389Lys) c.-63C>A (n.-63C>A) c.1108C>A (p.Gln370Lys) n.443C>A n.912C>A n.381-114C>A c.727C>A (p.Gln243Lys) c.457C>A (p.Gln153Lys) | gnomAD v4 |
11 | g.123059218A= | CA2005597102 | HSPA8 | c.1164T= (p.Val388=) c.-64T= (n.-64T=) c.1107T= (p.Val369=) n.442T= n.911T= n.381-115T= c.726T= (p.Val242=) c.456T= (p.Val152=) | |
11 | g.123059218A>C | CA477385698 | HSPA8 | c.1164T>G (p.Val388=) c.-64T>G (n.-64T>G) c.1107T>G (p.Val369=) n.442T>G n.911T>G n.381-115T>G c.726T>G (p.Val242=) c.456T>G (p.Val152=) | |
11 | g.123059218A>G | CA477385699 | HSPA8 | c.1164T>C (p.Val388=) c.-64T>C (n.-64T>C) c.1107T>C (p.Val369=) n.442T>C n.911T>C n.381-115T>C c.726T>C (p.Val242=) c.456T>C (p.Val152=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.123059218A>T | CA477385700 | HSPA8 | c.1164T>A (p.Val388=) c.-64T>A (n.-64T>A) c.1107T>A (p.Val369=) n.442T>A n.911T>A n.381-115T>A c.726T>A (p.Val242=) c.456T>A (p.Val152=) | |
11 | g.123059219A>C | CA383058519 | HSPA8 | c.1163T>G (p.Val388Gly) c.-65T>G (n.-65T>G) c.1106T>G (p.Val369Gly) n.441T>G n.910T>G n.381-116T>G c.725T>G (p.Val242Gly) c.455T>G (p.Val152Gly) | |
11 | g.123059219A>G | CA383058520 | HSPA8 | c.1163T>C (p.Val388Ala) c.-65T>C (n.-65T>C) c.1106T>C (p.Val369Ala) n.441T>C n.910T>C n.381-116T>C c.725T>C (p.Val242Ala) c.455T>C (p.Val152Ala) | |
11 | g.123059219A>T | CA383058521 | HSPA8 | c.1163T>A (p.Val388Asp) c.-65T>A (n.-65T>A) c.1106T>A (p.Val369Asp) n.441T>A n.910T>A n.381-116T>A c.725T>A (p.Val242Asp) c.455T>A (p.Val152Asp) | |
11 | g.123059220C>A | CA383058522 | HSPA8 | c.1162G>T (p.Val388Phe) c.-66G>T (n.-66G>T) c.1105G>T (p.Val369Phe) n.440G>T n.909G>T n.381-117G>T c.724G>T (p.Val242Phe) c.454G>T (p.Val152Phe) | |
11 | g.123059220C>G | CA383058523 | HSPA8 | c.1162G>C (p.Val388Leu) c.-66G>C (n.-66G>C) c.1105G>C (p.Val369Leu) n.440G>C n.909G>C n.381-117G>C c.724G>C (p.Val242Leu) c.454G>C (p.Val152Leu) | |
11 | g.123059220C>T | CA383058524 | HSPA8 | c.1162G>A (p.Val388Ile) c.-66G>A (n.-66G>A) c.1105G>A (p.Val369Ile) n.440G>A n.909G>A n.381-117G>A c.724G>A (p.Val242Ile) c.454G>A (p.Val152Ile) | |
11 | g.123059221A= | CA2005597110 | HSPA8 | c.1161T= (p.Asn387=) c.-67T= (n.-67T=) c.1104T= (p.Asn368=) n.439T= n.908T= n.381-118T= c.723T= (p.Asn241=) c.453T= (p.Asn151=) | |
11 | g.123059221A>C | CA383058525 | HSPA8 | c.1161T>G (p.Asn387Lys) c.-67T>G (n.-67T>G) c.1104T>G (p.Asn368Lys) n.439T>G n.908T>G n.381-118T>G c.723T>G (p.Asn241Lys) c.453T>G (p.Asn151Lys) | |
11 | g.123059221A>G | CA477385702 | HSPA8 | c.1161T>C (p.Asn387=) c.-67T>C (n.-67T>C) c.1104T>C (p.Asn368=) n.439T>C n.908T>C n.381-118T>C c.723T>C (p.Asn241=) c.453T>C (p.Asn151=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123059221A>T | CA383058526 | HSPA8 | c.1161T>A (p.Asn387Lys) c.-67T>A (n.-67T>A) c.1104T>A (p.Asn368Lys) n.439T>A n.908T>A n.381-118T>A c.723T>A (p.Asn241Lys) c.453T>A (p.Asn151Lys) | |
11 | g.123059222T>A | CA383058527 | HSPA8 | c.1160A>T (p.Asn387Ile) c.-68A>T (n.-68A>T) c.1103A>T (p.Asn368Ile) n.438A>T n.907A>T n.381-119A>T c.722A>T (p.Asn241Ile) c.452A>T (p.Asn151Ile) | |
11 | g.123059222T>C | CA383058528 | HSPA8 | c.1160A>G (p.Asn387Ser) c.-68A>G (n.-68A>G) c.1103A>G (p.Asn368Ser) n.438A>G n.907A>G n.381-119A>G c.722A>G (p.Asn241Ser) c.452A>G (p.Asn151Ser) | gnomAD v4 |
11 | g.123059222T>G | CA383058529 | HSPA8 | c.1160A>C (p.Asn387Thr) c.-68A>C (n.-68A>C) c.1103A>C (p.Asn368Thr) n.438A>C n.907A>C n.381-119A>C c.722A>C (p.Asn241Thr) c.452A>C (p.Asn151Thr) | |
11 | g.123059223T>A | CA383058530 | HSPA8 | c.1159A>T (p.Asn387Tyr) c.-69A>T (n.-69A>T) c.1102A>T (p.Asn368Tyr) n.437A>T n.906A>T n.381-120A>T c.721A>T (p.Asn241Tyr) c.451A>T (p.Asn151Tyr) | |
11 | g.123059223T>C | CA383058531 | HSPA8 | c.1159A>G (p.Asn387Asp) c.-69A>G (n.-69A>G) c.1102A>G (p.Asn368Asp) n.437A>G n.906A>G n.381-120A>G c.721A>G (p.Asn241Asp) c.451A>G (p.Asn151Asp) | |
11 | g.123059223T>G | CA383058532 | HSPA8 | c.1159A>C (p.Asn387His) c.-69A>C (n.-69A>C) c.1102A>C (p.Asn368His) n.437A>C n.906A>C n.381-120A>C c.721A>C (p.Asn241His) c.451A>C (p.Asn151His) |