Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.123059125_123059130delCA2616532888HSPA8c.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
11g.123059130T>ACA383058167HSPA8c.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)
11g.123059130T>CCA383058169HSPA8c.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)
11g.123059130T>GCA383058171HSPA8c.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
11g.123059130T=CA2005596897HSPA8c.1252A= (p.Thr418=)
c.25A= (p.Thr9=)
c.1195A= (p.Thr399=)
n.999A=
n.381-27A=
c.814A= (p.Thr272=)
c.544A= (p.Thr182=)
11g.123059131A>CCA383058173HSPA8c.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)
11g.123059131A>GCA477385719HSPA8c.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=)
11g.123059131A>TCA383058175HSPA8c.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)
11g.123059132T>ACA383058177HSPA8c.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)
11g.123059132T>CCA383058178HSPA8c.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)
11g.123059132T>GCA383058181HSPA8c.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)
11g.123059133T>ACA383058188HSPA8c.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)
11g.123059133T>CCA383058186HSPA8c.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)
11g.123059133T>GCA383058184HSPA8c.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)
11g.123059134A=CA2005596900HSPA8c.1248T= (p.Arg416=)
c.21T= (p.Arg7=)
c.1191T= (p.Arg397=)
n.995T=
n.381-31T=
c.810T= (p.Arg270=)
c.540T= (p.Arg180=)
11g.123059134A>CCA477385725HSPA8c.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=)
11g.123059134A>GCA477385723HSPA8c.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
11g.123059134A>TCA477385724HSPA8c.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=)
11g.123059135C>ACA383058190HSPA8c.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)
11g.123059135C>GCA383058193HSPA8c.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)
11g.123059135C>TCA383058192HSPA8c.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
11g.123059136G>ACA383058195HSPA8c.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
11g.123059136G>CCA383058197HSPA8c.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)
11g.123059136G>TCA383058199HSPA8c.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)
11g.123059137C>ACA383058201HSPA8c.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)
11g.123059137C=CA2005596903HSPA8c.1245G= (p.Lys415=)
c.18G= (p.Lys6=)
c.1188G= (p.Lys396=)
n.992G=
n.381-34G=
c.807G= (p.Lys269=)
c.537G= (p.Lys179=)
11g.123059137C>GCA383058202HSPA8c.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
11g.123059137C>TCA477385726HSPA8c.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
11g.123059138T>ACA383058205HSPA8c.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)
11g.123059138T>CCA383058207HSPA8c.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)
11g.123059138T>GCA383058209HSPA8c.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
11g.123059139T>ACA383058210HSPA8c.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)
11g.123059139T>CCA383058212HSPA8c.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)
11g.123059139T>GCA383058214HSPA8c.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)
11g.123059140G>ACA477385730HSPA8c.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
11g.123059140G>CCA383058215HSPA8c.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)
11g.123059140G=CA2005596907HSPA8c.1242C= (p.Ile414=)
c.15C= (p.Ile5=)
c.1185C= (p.Ile395=)
n.989C=
n.381-37C=
c.804C= (p.Ile268=)
c.534C= (p.Ile178=)
11g.123059140G>TCA477385731HSPA8c.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=)
11g.123059141A>CCA383058220HSPA8c.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)
11g.123059141A>GCA383058218HSPA8c.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)
11g.123059141A>TCA383058219HSPA8c.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)
11g.123059142T>ACA383058223HSPA8c.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)
11g.123059142T>CCA383058225HSPA8c.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)
11g.123059142T>GCA383058226HSPA8c.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)
11g.123059143G>ACA477385735HSPA8c.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
11g.123059143G>CCA477385736HSPA8c.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=)
11g.123059143G=CA2005596911HSPA8c.1239C= (p.Leu413=)
c.12C= (p.Leu4=)
c.1182C= (p.Leu394=)
n.986C=
n.381-40C=
c.801C= (p.Leu267=)
c.531C= (p.Leu177=)
11g.123059143G>TCA477385737HSPA8c.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=)
11g.123059144A>CCA383058229HSPA8c.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)
11g.123059144A>GCA383058231HSPA8c.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)
11g.123059144A>TCA383058233HSPA8c.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)
11g.123059145G>ACA383058235HSPA8c.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)
11g.123059145G>CCA383058237HSPA8c.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)
11g.123059145G>TCA383058239HSPA8c.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)
11g.123059146G>ACA229967259HSPA8c.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
11g.123059146G>CCA477385741HSPA8c.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
11g.123059146G=CA2005596915HSPA8c.1236C= (p.Val412=)
c.9C= (p.Val3=)
c.1179C= (p.Val393=)
n.983C=
n.381-43C=
c.798C= (p.Val266=)
c.528C= (p.Val176=)
11g.123059146G>TCA6332529HSPA8c.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
11g.123059147A>CCA383058245HSPA8c.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)
11g.123059147A>GCA383058244HSPA8c.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)
11g.123059147A>TCA383058243HSPA8c.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)
11g.123059148C>ACA383058252HSPA8c.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)
11g.123059148C=CA2005596920HSPA8c.1234G= (p.Val412=)
c.7G= (p.Val3=)
c.1177G= (p.Val393=)
n.981G=
n.381-45G=
c.796G= (p.Val266=)
c.526G= (p.Val176=)
11g.123059148C>GCA383058248HSPA8c.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)
11g.123059148C>TCA383058250HSPA8c.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
11g.123059149A=CA2005596925HSPA8c.1233T= (p.Thr411=)
c.6T= (p.Thr2=)
c.1176T= (p.Thr392=)
n.980T=
n.381-46T=
c.795T= (p.Thr265=)
c.525T= (p.Thr175=)
11g.123059149A>CCA477385743HSPA8c.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
11g.123059149A>GCA477385744HSPA8c.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
11g.123059149A>TCA477385746HSPA8c.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=)
11g.123059150G>ACA383058255HSPA8c.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
11g.123059150G>CCA383058257HSPA8c.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
11g.123059150G=CA2005596930HSPA8c.1232C= (p.Thr411=)
c.5C= (p.Thr2=)
c.1175C= (p.Thr392=)
n.979C=
n.381-47C=
c.794C= (p.Thr265=)
c.524C= (p.Thr175=)
11g.123059150G>TCA383058259HSPA8c.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)
11g.123059151T>ACA383058265HSPA8c.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)
11g.123059151T>CCA383058263HSPA8c.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
11g.123059151T>GCA383058261HSPA8c.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)
11g.123059151T=CA2005596933HSPA8c.1231A= (p.Thr411=)
c.4A= (p.Thr2=)
c.1174A= (p.Thr392=)
n.978A=
n.381-48A=
c.793A= (p.Thr265=)
c.523A= (p.Thr175=)
11g.123059152C>ACA383058267HSPA8c.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)
11g.123059152C>GCA383058269HSPA8c.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)
11g.123059152C>TCA383058270HSPA8c.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
11g.123059153A>CCA383058272HSPA8c.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)
11g.123059153A>GCA383058274HSPA8c.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)
11g.123059153A>TCA383058276HSPA8c.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)
11g.123059154T>ACA383058278HSPA8c.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)
11g.123059154T>CCA383058282HSPA8c.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)
11g.123059154T>GCA383058280HSPA8c.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)
11g.123059155G>ACA477385751HSPA8c.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
11g.123059155G>CCA477385752HSPA8c.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=)
11g.123059155G=CA2005596946HSPA8c.1227C= (p.Val409=)
c.-1C= (n.-1C=)
c.1170C= (p.Val390=)
n.974C=
n.381-52C=
c.789C= (p.Val263=)
c.519C= (p.Val173=)
11g.123059155G>TCA477385753HSPA8c.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=)
11g.123059156A>CCA383058284HSPA8c.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)
11g.123059156A>GCA383058286HSPA8c.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)
11g.123059156A>TCA383058288HSPA8c.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)
11g.123059157C>ACA383058290HSPA8c.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)
11g.123059157C=CA2005596950HSPA8c.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=)
11g.123059157C>GCA383058292HSPA8c.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)
11g.123059157C>TCA6332530HSPA8c.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
11g.123059158T>ACA477385754HSPA8c.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=)
11g.123059158T>CCA477385755HSPA8c.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=)
11g.123059158T>GCA477385756HSPA8c.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=)
11g.123059159C>ACA383058295HSPA8c.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)
11g.123059159C>GCA383058298HSPA8c.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)
11g.123059159C>TCA383058300HSPA8c.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)
11g.123059160C>ACA383058303HSPA8c.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
11g.123059160C>GCA383058304HSPA8c.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)
11g.123059160C>TCA383058306HSPA8c.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)
11g.123059161A=CA2005596954HSPA8c.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=)
11g.123059161A>CCA477385759HSPA8c.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=)
11g.123059161A>GCA477385758HSPA8c.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
11g.123059161A>TCA477385757HSPA8c.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=)
11g.123059162C>ACA383058311HSPA8c.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)
11g.123059162C>GCA383058313HSPA8c.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)
11g.123059162C>TCA383058309HSPA8c.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)
11g.123059163C>ACA383058315HSPA8c.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)
11g.123059163C>GCA383058319HSPA8c.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)
11g.123059163C>TCA383058317HSPA8c.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)
11g.123059164A=CA2005596958HSPA8c.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=)
11g.123059164A>CCA477385760HSPA8c.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
11g.123059164A>GCA477385761HSPA8c.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=)
11g.123059164A>TCA477385762HSPA8c.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=)
11g.123059165G>ACA383058321HSPA8c.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
11g.123059165G>CCA383058322HSPA8c.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)
11g.123059165G>TCA383058324HSPA8c.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)
11g.123059166C>ACA383058326HSPA8c.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)
11g.123059166C>GCA383058328HSPA8c.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)
11g.123059166C>TCA383058330HSPA8c.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
11g.123059167A>CCA477385766HSPA8c.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=)
11g.123059167A>GCA477385765HSPA8c.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=)
11g.123059167A>TCA477385764HSPA8c.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=)
11g.123059168G>ACA383058332HSPA8c.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)
11g.123059168G>CCA383058334HSPA8c.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
11g.123059168G>TCA383058336HSPA8c.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)
11g.123059169T>ACA383058338HSPA8c.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)
11g.123059169T>CCA383058340HSPA8c.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)
11g.123059169T>GCA383058342HSPA8c.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)
11g.123059170T>ACA383058344HSPA8c.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)
11g.123059170T>CCA477385767HSPA8c.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=)
11g.123059170T>GCA383058346HSPA8c.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)
11g.123059171T>ACA383058348HSPA8c.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)
11g.123059171T>CCA383058349HSPA8c.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)
11g.123059171T>GCA383058351HSPA8c.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)
11g.123059172C>ACA383058352HSPA8c.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)
11g.123059172C>GCA383058354HSPA8c.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)
11g.123059172C>TCA383058356HSPA8c.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)
11g.123059173A>CCA383058358HSPA8c.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)
11g.123059173A>GCA477385773HSPA8c.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=)
11g.123059173A>TCA477385775HSPA8c.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=)
11g.123059174A>CCA383058360HSPA8c.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)
11g.123059174A>GCA383058362HSPA8c.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)
11g.123059174A>TCA383058364HSPA8c.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)
11g.123059175T>ACA383058369HSPA8c.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)
11g.123059175T>CCA383058371HSPA8c.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
11g.123059175T>GCA383058366HSPA8c.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)
11g.123059175T=CA2005596967HSPA8c.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=)
11g.123059176A=CA2005596969HSPA8c.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=)
11g.123059176A>CCA477385785HSPA8c.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
11g.123059176A>GCA477385787HSPA8c.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
11g.123059176A>TCA477385789HSPA8c.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=)
11g.123059177C>ACA383058373HSPA8c.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)
11g.123059177C>GCA383058375HSPA8c.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)
11g.123059177C>TCA383058377HSPA8c.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)
11g.123059178C>ACA383058380HSPA8c.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)
11g.123059178C>GCA383058381HSPA8c.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)
11g.123059178C>TCA383058384HSPA8c.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
11g.123059179A=CA2005596971HSPA8c.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=)
11g.123059179A>CCA477385652HSPA8c.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=)
11g.123059179A>GCA477385653HSPA8c.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=)
11g.123059179A>TCA477385654HSPA8c.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
11g.123059180A=CA2005596977HSPA8c.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=)
11g.123059180A>CCA383058386HSPA8c.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)
11g.123059180A>GCA383058388HSPA8c.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)
11g.123059180A>TCA383058390HSPA8c.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)
11g.123059180_123059181insTTCTCA2005596982HSPA8c.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
11g.123059181G>ACA383058392HSPA8c.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)
11g.123059181G>CCA383058394HSPA8c.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)
11g.123059181G>TCA383058396HSPA8c.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
11g.123059182G>ACA6332531HSPA8c.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
11g.123059182G>CCA477385656HSPA8c.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=)
11g.123059182G=CA2005596986HSPA8c.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=)
11g.123059182G>TCA477385657HSPA8c.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=)
11g.123059183G>ACA383058403HSPA8c.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
11g.123059183G>CCA383058401HSPA8c.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)
11g.123059183G>TCA383058399HSPA8c.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)
11g.123059184A>CCA383058405HSPA8c.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)
11g.123059184A>GCA383058407HSPA8c.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)
11g.123059184A>TCA383058409HSPA8c.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)
11g.123059185A=CA2005597000HSPA8c.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=)
11g.123059185A>CCA477385658HSPA8c.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=)
11g.123059185A>GCA477385660HSPA8c.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
11g.123059185A>TCA477385659HSPA8c.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=)
11g.123059186A>CCA383058412HSPA8c.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)
11g.123059186A>GCA383058414HSPA8c.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)
11g.123059186A>TCA383058416HSPA8c.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)
11g.123059187G>ACA6332532HSPA8c.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
11g.123059187G>CCA383058420HSPA8c.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)
11g.123059187G=CA2005597004HSPA8c.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=)
11g.123059187G>TCA383058422HSPA8c.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)
11g.123059188A>CCA477385666HSPA8c.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=)
11g.123059188A>GCA477385665HSPA8c.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
11g.123059188A>TCA477385664HSPA8c.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=)
11g.123059189G>ACA383058424HSPA8c.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)
11g.123059189G>CCA383058426HSPA8c.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)
11g.123059189G>TCA383058428HSPA8c.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)
11g.123059190G>ACA383058435HSPA8c.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
11g.123059190G>CCA383058433HSPA8c.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)
11g.123059190G=CA2005597007HSPA8c.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=)
11g.123059190G>TCA383058431HSPA8c.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)
11g.123059191A=CA2005597025HSPA8c.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=)
11g.123059191A>CCA477385668HSPA8c.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=)
11g.123059191A>GCA6332533HSPA8c.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
11g.123059191A>TCA477385669HSPA8c.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=)
11g.123059192G>ACA383058442HSPA8c.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
11g.123059192G>CCA383058439HSPA8c.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)
11g.123059192G=CA2005597029HSPA8c.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=)
11g.123059192G>TCA383058441HSPA8c.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)
11g.123059193T>ACA383058446HSPA8c.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)
11g.123059193T>CCA383058447HSPA8c.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)
11g.123059193T>GCA383058449HSPA8c.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)
11g.123059194G>ACA477385672HSPA8c.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=)
11g.123059194G>CCA477385673HSPA8c.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=)
11g.123059194G>TCA477385674HSPA8c.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=)
11g.123059195A>CCA383058451HSPA8c.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)
11g.123059195A>GCA383058452HSPA8c.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)
11g.123059195A>TCA383058454HSPA8c.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)
11g.123059196C>ACA383058457HSPA8c.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
11g.123059196C>GCA383058458HSPA8c.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)
11g.123059196C>TCA383058460HSPA8c.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)
11g.123059197A=CA2005597047HSPA8c.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=)
11g.123059197A>CCA383058463HSPA8c.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)
11g.123059197A>GCA477385678HSPA8c.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
11g.123059197A>TCA383058466HSPA8c.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)
11g.123059198T>ACA383058467HSPA8c.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)
11g.123059198T>CCA383058471HSPA8c.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)
11g.123059198T>GCA383058469HSPA8c.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)
11g.123059199C>ACA383058473HSPA8c.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)
11g.123059199C>GCA383058475HSPA8c.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)
11g.123059199C>TCA383058477HSPA8c.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)
11g.123059200C>ACA383058478HSPA8c.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)
11g.123059200C>GCA383058479HSPA8c.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)
11g.123059200C>TCA477385680HSPA8c.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=)
11g.123059201A>CCA383058480HSPA8c.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)
11g.123059201A>GCA383058481HSPA8c.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)
11g.123059201A>TCA383058482HSPA8c.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)
11g.123059202A=CA2005597053HSPA8c.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=)
11g.123059202A>CCA383058483HSPA8c.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)
11g.123059202A>GCA477385681HSPA8c.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
11g.123059202A>TCA383058484HSPA8c.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)
11g.123059203G>ACA6332534HSPA8c.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
11g.123059203G>CCA477385684HSPA8c.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=)
11g.123059203G=CA2005597059HSPA8c.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=)
11g.123059203G>TCA477385686HSPA8c.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
11g.123059204A>CCA383058487HSPA8c.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)
11g.123059204A>GCA383058486HSPA8c.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)
11g.123059204A>TCA383058485HSPA8c.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)
11g.123059205G>ACA383058490HSPA8c.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)
11g.123059205G>CCA383058488HSPA8c.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
11g.123059205G>TCA383058489HSPA8c.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)
11g.123059206C>ACA477385688HSPA8c.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=)
11g.123059206C=CA2005597064HSPA8c.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=)
11g.123059206C>GCA477385687HSPA8c.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
11g.123059206C>TCA6332535HSPA8c.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
11g.123059207A>CCA383058491HSPA8c.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)
11g.123059207A>GCA383058492HSPA8c.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)
11g.123059207A>TCA383058493HSPA8c.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)
11g.123059208G>ACA6332536HSPA8c.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
11g.123059208G>CCA383058494HSPA8c.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)
11g.123059208G=CA2005597073HSPA8c.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=)
11g.123059208G>TCA383058495HSPA8c.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)
11g.123059209C>ACA383058496HSPA8c.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
11g.123059209C>GCA383058497HSPA8c.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)
11g.123059209C>TCA477385690HSPA8c.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=)
11g.123059210A>CCA383058498HSPA8c.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)
11g.123059210A>GCA383058499HSPA8c.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)
11g.123059210A>TCA383058500HSPA8c.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)
11g.123059211A>CCA383058501HSPA8c.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
11g.123059211A>GCA477385694HSPA8c.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
11g.123059211A>TCA383058502HSPA8c.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)
11g.123059212A=CA2005597075HSPA8c.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=)
11g.123059212A>CCA383058503HSPA8c.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)
11g.123059212A>GCA477385695HSPA8c.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
11g.123059212A>TCA383058504HSPA8c.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)
11g.123059212_123059222delinsATCTTGAACATCA2005597076HSPA8c.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=)
11g.123059213T>ACA383058505HSPA8c.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)
11g.123059213T>CCA383058506HSPA8c.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)
11g.123059213T>GCA383058507HSPA8c.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)
11g.123059216_123059225delCA2005597081HSPA8c.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
11g.123059214C>ACA383058508HSPA8c.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)
11g.123059214C>GCA383058509HSPA8c.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)
11g.123059214C>TCA383058510HSPA8c.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)
11g.123059215T>ACA383058511HSPA8c.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)
11g.123059215T>CCA477385697HSPA8c.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
11g.123059215T>GCA383058512HSPA8c.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)
11g.123059215T=CA2005597085HSPA8c.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=)
11g.123059216T>ACA383058513HSPA8c.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)
11g.123059216T>CCA383058514HSPA8c.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)
11g.123059216T>GCA383058515HSPA8c.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)
11g.123059217G>ACA383058518HSPA8c.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)
11g.123059217G>CCA383058517HSPA8c.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
11g.123059217G=CA2005597095HSPA8c.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=)
11g.123059217G>TCA383058516HSPA8c.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
11g.123059218A=CA2005597102HSPA8c.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=)
11g.123059218A>CCA477385698HSPA8c.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=)
11g.123059218A>GCA477385699HSPA8c.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
11g.123059218A>TCA477385700HSPA8c.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=)
11g.123059219A>CCA383058519HSPA8c.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)
11g.123059219A>GCA383058520HSPA8c.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)
11g.123059219A>TCA383058521HSPA8c.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)
11g.123059220C>ACA383058522HSPA8c.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)
11g.123059220C>GCA383058523HSPA8c.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)
11g.123059220C>TCA383058524HSPA8c.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)
11g.123059221A=CA2005597110HSPA8c.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=)
11g.123059221A>CCA383058525HSPA8c.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)
11g.123059221A>GCA477385702HSPA8c.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
11g.123059221A>TCA383058526HSPA8c.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)
11g.123059222T>ACA383058527HSPA8c.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)
11g.123059222T>CCA383058528HSPA8c.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
11g.123059222T>GCA383058529HSPA8c.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)
11g.123059223T>ACA383058530HSPA8c.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)
11g.123059223T>CCA383058531HSPA8c.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)
11g.123059223T>GCA383058532HSPA8c.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)
11g.123059224C>ACA383058534HSPA8c.1158G>T (p.Glu386Asp)
c.-70G>T (n.-70G>T)
c.1101G>T (p.Glu367Asp)
n.436G>T
n.905G>T
n.381-121G>T
c.720G>T (p.Glu240Asp)
c.450G>T (p.Glu150Asp)
11g.123059224C=CA2005597115HSPA8c.1158G= (p.Glu386=)
c.-70G= (n.-70G=)
c.1101G= (p.Glu367=)
n.436G=
n.905G=
n.381-121G=
c.720G= (p.Glu240=)
c.450G= (p.Glu150=)
11g.123059224C>GCA383058533HSPA8c.1158G>C (p.Glu386Asp)
c.-70G>C (n.-70G>C)
c.1101G>C (p.Glu367Asp)
n.436G>C
n.905G>C
n.381-121G>C
c.720G>C (p.Glu240Asp)
c.450G>C (p.Glu150Asp)
 dbSNP
11g.123059224C>TCA6332537HSPA8c.1158G>A (p.Glu386=)
c.-70G>A (n.-70G>A)
c.1101G>A (p.Glu367=)
n.436G>A
n.905G>A
n.381-121G>A
c.720G>A (p.Glu240=)
c.450G>A (p.Glu150=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.123059225T>ACA383058535HSPA8c.1157A>T (p.Glu386Val)
c.-71A>T (n.-71A>T)
c.1100A>T (p.Glu367Val)
n.435A>T
n.904A>T
n.381-122A>T
c.719A>T (p.Glu240Val)
c.449A>T (p.Glu150Val)
11g.123059225T>CCA383058536HSPA8c.1157A>G (p.Glu386Gly)
c.-71A>G (n.-71A>G)
c.1100A>G (p.Glu367Gly)
n.435A>G
n.904A>G
n.381-122A>G
c.719A>G (p.Glu240Gly)
c.449A>G (p.Glu150Gly)
11g.123059225T>GCA383058537HSPA8c.1157A>C (p.Glu386Ala)
c.-71A>C (n.-71A>C)
c.1100A>C (p.Glu367Ala)
n.435A>C
n.904A>C
n.381-122A>C
c.719A>C (p.Glu240Ala)
c.449A>C (p.Glu150Ala)
11g.123059226C>ACA383058538HSPA8c.1156G>T (p.Glu386Ter)
c.-72G>T (n.-72G>T)
c.1099G>T (p.Glu367Ter)
n.434G>T
n.903G>T
n.381-123G>T
c.718G>T (p.Glu240Ter)
c.448G>T (p.Glu150Ter)
11g.123059226C>GCA383058539HSPA8c.1156G>C (p.Glu386Gln)
c.-72G>C (n.-72G>C)
c.1099G>C (p.Glu367Gln)
n.434G>C
n.903G>C
n.381-123G>C
c.718G>C (p.Glu240Gln)
c.448G>C (p.Glu150Gln)
11g.123059226C>TCA383058540HSPA8c.1156G>A (p.Glu386Lys)
c.-72G>A (n.-72G>A)
c.1099G>A (p.Glu367Lys)
n.434G>A
n.903G>A
n.381-123G>A
c.718G>A (p.Glu240Lys)
c.448G>A (p.Glu150Lys)
11g.123059227A=CA2005597120HSPA8c.1155T= (p.Ser385=)
c.-73T= (n.-73T=)
c.1098T= (p.Ser366=)
n.433T=
n.902T=
n.381-124T=
c.717T= (p.Ser239=)
c.447T= (p.Ser149=)
11g.123059227A>CCA477385708HSPA8c.1155T>G (p.Ser385=)
c.-73T>G (n.-73T>G)
c.1098T>G (p.Ser366=)
n.433T>G
n.902T>G
n.381-124T>G
c.717T>G (p.Ser239=)
c.447T>G (p.Ser149=)
11g.123059227A>GCA477385709HSPA8c.1155T>C (p.Ser385=)
c.-73T>C (n.-73T>C)
c.1098T>C (p.Ser366=)
n.433T>C
n.902T>C
n.381-124T>C
c.717T>C (p.Ser239=)
c.447T>C (p.Ser149=)
11g.123059227A>TCA229967281HSPA8c.1155T>A (p.Ser385=)
c.-73T>A (n.-73T>A)
c.1098T>A (p.Ser366=)
n.433T>A
n.902T>A
n.381-124T>A
c.717T>A (p.Ser239=)
c.447T>A (p.Ser149=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.123059228G>ACA383058541HSPA8c.1154C>T (p.Ser385Phe)
c.-74C>T (n.-74C>T)
c.1097C>T (p.Ser366Phe)
n.432C>T
n.901C>T
n.381-125C>T
c.716C>T (p.Ser239Phe)
c.446C>T (p.Ser149Phe)
11g.123059228G>CCA383058542HSPA8c.1154C>G (p.Ser385Cys)
c.-74C>G (n.-74C>G)
c.1097C>G (p.Ser366Cys)
n.432C>G
n.901C>G
n.381-125C>G
c.716C>G (p.Ser239Cys)
c.446C>G (p.Ser149Cys)
11g.123059228G=CA2005597130HSPA8c.1154C= (p.Ser385=)
c.-74C= (n.-74C=)
c.1097C= (p.Ser366=)
n.432C=
n.901C=
n.381-125C=
c.716C= (p.Ser239=)
c.446C= (p.Ser149=)
11g.123059228G>TCA383058543HSPA8c.1154C>A (p.Ser385Tyr)
c.-74C>A (n.-74C>A)
c.1097C>A (p.Ser366Tyr)
n.432C>A
n.901C>A
n.381-125C>A
c.716C>A (p.Ser239Tyr)
c.446C>A (p.Ser149Tyr)
 dbSNP gnomAD v2 gnomAD v4
11g.123059229A>CCA383058544HSPA8c.1153T>G (p.Ser385Ala)
c.-75T>G (n.-75T>G)
c.1096T>G (p.Ser366Ala)
n.431T>G
n.900T>G
n.381-126T>G
c.715T>G (p.Ser239Ala)
c.445T>G (p.Ser149Ala)
11g.123059229A>GCA383058545HSPA8c.1153T>C (p.Ser385Pro)
c.-75T>C (n.-75T>C)
c.1096T>C (p.Ser366Pro)
n.431T>C
n.900T>C
n.381-126T>C
c.715T>C (p.Ser239Pro)
c.445T>C (p.Ser149Pro)
11g.123059229A>TCA383058546HSPA8c.1153T>A (p.Ser385Thr)
c.-75T>A (n.-75T>A)
c.1096T>A (p.Ser366Thr)
n.431T>A
n.900T>A
n.381-126T>A
c.715T>A (p.Ser239Thr)
c.445T>A (p.Ser149Thr)
11g.123059230C>ACA383058547HSPA8c.1152G>T (p.Lys384Asn)
c.-76G>T (n.-76G>T)
c.1095G>T (p.Lys365Asn)
n.430G>T
n.899G>T
n.381-127G>T
c.714G>T (p.Lys238Asn)
c.444G>T (p.Lys148Asn)
11g.123059230C=CA2005597137HSPA8c.1152G= (p.Lys384=)
c.-76G= (n.-76G=)
c.1095G= (p.Lys365=)
n.430G=
n.899G=
n.381-127G=
c.714G= (p.Lys238=)
c.444G= (p.Lys148=)
11g.123059230C>GCA383058548HSPA8c.1152G>C (p.Lys384Asn)
c.-76G>C (n.-76G>C)
c.1095G>C (p.Lys365Asn)
n.430G>C
n.899G>C
n.381-127G>C
c.714G>C (p.Lys238Asn)
c.444G>C (p.Lys148Asn)
11g.123059230C>TCA477385711HSPA8c.1152G>A (p.Lys384=)
c.-76G>A (n.-76G>A)
c.1095G>A (p.Lys365=)
n.430G>A
n.899G>A
n.381-127G>A
c.714G>A (p.Lys238=)
c.444G>A (p.Lys148=)
 dbSNP gnomAD v4

Number of alleles fetched