Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.123059065A>CCA477385643HSPA8c.1317T>G (p.Leu439=)
c.90T>G (p.Leu30=)
c.1260T>G (p.Leu420=)
c.-256T>G (n.-256T>G)
n.1064T>G
n.419T>G
c.879T>G (p.Leu293=)
c.609T>G (p.Leu203=)
11g.123059065A>GCA477385644HSPA8c.1317T>C (p.Leu439=)
c.90T>C (p.Leu30=)
c.1260T>C (p.Leu420=)
c.-256T>C (n.-256T>C)
n.1064T>C
n.419T>C
c.879T>C (p.Leu293=)
c.609T>C (p.Leu203=)
 gnomAD v4
11g.123059065A>TCA477385645HSPA8c.1317T>A (p.Leu439=)
c.90T>A (p.Leu30=)
c.1260T>A (p.Leu420=)
c.-256T>A (n.-256T>A)
n.1064T>A
n.419T>A
c.879T>A (p.Leu293=)
c.609T>A (p.Leu203=)
11g.123059066_123059069dupCA2575011603HSPA8c.1314_1317dup (p.Ile440AlafsTer6)
c.87_90dup (p.Ile31AlafsTer6)
c.1257_1260dup (p.Ile421AlafsTer6)
c.-259_-256dup (n.-259_-256dup)
n.1061_1064dup
n.416_419dup
c.876_879dup (p.Ile294AlafsTer6)
c.606_609dup (p.Ile204AlafsTer6)
11g.123059066A>CCA383057869HSPA8c.1316T>G (p.Leu439Arg)
c.89T>G (p.Leu30Arg)
c.1259T>G (p.Leu420Arg)
c.-257T>G (n.-257T>G)
n.1063T>G
n.418T>G
c.878T>G (p.Leu293Arg)
c.608T>G (p.Leu203Arg)
11g.123059066A>GCA383057872HSPA8c.1316T>C (p.Leu439Pro)
c.89T>C (p.Leu30Pro)
c.1259T>C (p.Leu420Pro)
c.-257T>C (n.-257T>C)
n.1063T>C
n.418T>C
c.878T>C (p.Leu293Pro)
c.608T>C (p.Leu203Pro)
11g.123059066A>TCA383057868HSPA8c.1316T>A (p.Leu439His)
c.89T>A (p.Leu30His)
c.1259T>A (p.Leu420His)
c.-257T>A (n.-257T>A)
n.1063T>A
n.418T>A
c.878T>A (p.Leu293His)
c.608T>A (p.Leu203His)
11g.123059067G>ACA383057875HSPA8c.1315C>T (p.Leu439Phe)
c.88C>T (p.Leu30Phe)
c.1258C>T (p.Leu420Phe)
c.-258C>T (n.-258C>T)
n.1062C>T
n.417C>T
c.877C>T (p.Leu293Phe)
c.607C>T (p.Leu203Phe)
11g.123059067G>CCA383057876HSPA8c.1315C>G (p.Leu439Val)
c.88C>G (p.Leu30Val)
c.1258C>G (p.Leu420Val)
c.-258C>G (n.-258C>G)
n.1062C>G
n.417C>G
c.877C>G (p.Leu293Val)
c.607C>G (p.Leu203Val)
11g.123059067G>TCA383057878HSPA8c.1315C>A (p.Leu439Ile)
c.88C>A (p.Leu30Ile)
c.1258C>A (p.Leu420Ile)
c.-258C>A (n.-258C>A)
n.1062C>A
n.417C>A
c.877C>A (p.Leu293Ile)
c.607C>A (p.Leu203Ile)
11g.123059068C>ACA477385647HSPA8c.1314G>T (p.Val438=)
c.87G>T (p.Val29=)
c.1257G>T (p.Val419=)
c.-259G>T (n.-259G>T)
n.1061G>T
n.416G>T
c.876G>T (p.Val292=)
c.606G>T (p.Val202=)
11g.123059068C=CA2005596681HSPA8c.1314G= (p.Val438=)
c.87G= (p.Val29=)
c.1257G= (p.Val419=)
c.-259G= (n.-259G=)
n.1061G=
n.416G=
c.876G= (p.Val292=)
c.606G= (p.Val202=)
11g.123059068C>GCA477385646HSPA8c.1314G>C (p.Val438=)
c.87G>C (p.Val29=)
c.1257G>C (p.Val419=)
c.-259G>C (n.-259G>C)
n.1061G>C
n.416G>C
c.876G>C (p.Val292=)
c.606G>C (p.Val202=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.123059068C>TCA6332519HSPA8c.1314G>A (p.Val438=)
c.87G>A (p.Val29=)
c.1257G>A (p.Val419=)
c.-259G>A (n.-259G>A)
n.1061G>A
n.416G>A
c.876G>A (p.Val292=)
c.606G>A (p.Val202=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.123059069A>CCA383057881HSPA8c.1313T>G (p.Val438Gly)
c.86T>G (p.Val29Gly)
c.1256T>G (p.Val419Gly)
c.-260T>G (n.-260T>G)
n.1060T>G
n.415T>G
c.875T>G (p.Val292Gly)
c.605T>G (p.Val202Gly)
11g.123059069A>GCA383057883HSPA8c.1313T>C (p.Val438Ala)
c.86T>C (p.Val29Ala)
c.1256T>C (p.Val419Ala)
c.-260T>C (n.-260T>C)
n.1060T>C
n.415T>C
c.875T>C (p.Val292Ala)
c.605T>C (p.Val202Ala)
11g.123059069A>TCA383057885HSPA8c.1313T>A (p.Val438Glu)
c.86T>A (p.Val29Glu)
c.1256T>A (p.Val419Glu)
c.-260T>A (n.-260T>A)
n.1060T>A
n.415T>A
c.875T>A (p.Val292Glu)
c.605T>A (p.Val202Glu)
11g.123059070C>ACA383057886HSPA8c.1312G>T (p.Val438Leu)
c.85G>T (p.Val29Leu)
c.1255G>T (p.Val419Leu)
c.-261G>T (n.-261G>T)
n.1059G>T
n.414G>T
c.874G>T (p.Val292Leu)
c.604G>T (p.Val202Leu)
11g.123059070C>GCA383057890HSPA8c.1312G>C (p.Val438Leu)
c.85G>C (p.Val29Leu)
c.1255G>C (p.Val419Leu)
c.-261G>C (n.-261G>C)
n.1059G>C
n.414G>C
c.874G>C (p.Val292Leu)
c.604G>C (p.Val202Leu)
11g.123059070C>TCA383057888HSPA8c.1312G>A (p.Val438Met)
c.85G>A (p.Val29Met)
c.1255G>A (p.Val419Met)
c.-261G>A (n.-261G>A)
n.1059G>A
n.414G>A
c.874G>A (p.Val292Met)
c.604G>A (p.Val202Met)
11g.123059071A=CA2005596686HSPA8c.1311T= (p.Gly437=)
c.84T= (p.Gly28=)
c.1254T= (p.Gly418=)
c.-262T= (n.-262T=)
n.1058T=
n.413T=
c.873T= (p.Gly291=)
c.603T= (p.Gly201=)
11g.123059071A>CCA229967222HSPA8c.1311T>G (p.Gly437=)
c.84T>G (p.Gly28=)
c.1254T>G (p.Gly418=)
c.-262T>G (n.-262T>G)
n.1058T>G
n.413T>G
c.873T>G (p.Gly291=)
c.603T>G (p.Gly201=)
 dbSNP gnomAD v4
11g.123059071A>GCA477385648HSPA8c.1311T>C (p.Gly437=)
c.84T>C (p.Gly28=)
c.1254T>C (p.Gly418=)
c.-262T>C (n.-262T>C)
n.1058T>C
n.413T>C
c.873T>C (p.Gly291=)
c.603T>C (p.Gly201=)
11g.123059071A>TCA477385649HSPA8c.1311T>A (p.Gly437=)
c.84T>A (p.Gly28=)
c.1254T>A (p.Gly418=)
c.-262T>A (n.-262T>A)
n.1058T>A
n.413T>A
c.873T>A (p.Gly291=)
c.603T>A (p.Gly201=)
11g.123059072C>ACA383057894HSPA8c.1310G>T (p.Gly437Val)
c.83G>T (p.Gly28Val)
c.1253G>T (p.Gly418Val)
c.-263G>T (n.-263G>T)
n.1057G>T
n.412G>T
c.872G>T (p.Gly291Val)
c.602G>T (p.Gly201Val)
11g.123059072C>GCA383057896HSPA8c.1310G>C (p.Gly437Ala)
c.83G>C (p.Gly28Ala)
c.1253G>C (p.Gly418Ala)
c.-263G>C (n.-263G>C)
n.1057G>C
n.412G>C
c.872G>C (p.Gly291Ala)
c.602G>C (p.Gly201Ala)
11g.123059072C>TCA383057897HSPA8c.1310G>A (p.Gly437Asp)
c.83G>A (p.Gly28Asp)
c.1253G>A (p.Gly418Asp)
c.-263G>A (n.-263G>A)
n.1057G>A
n.412G>A
c.872G>A (p.Gly291Asp)
c.602G>A (p.Gly201Asp)
11g.123059073C>ACA383057900HSPA8c.1309G>T (p.Gly437Cys)
c.82G>T (p.Gly28Cys)
c.1252G>T (p.Gly418Cys)
c.-264G>T (n.-264G>T)
n.1056G>T
n.411G>T
c.871G>T (p.Gly291Cys)
c.601G>T (p.Gly201Cys)
11g.123059073C>GCA383057904HSPA8c.1309G>C (p.Gly437Arg)
c.82G>C (p.Gly28Arg)
c.1252G>C (p.Gly418Arg)
c.-264G>C (n.-264G>C)
n.1056G>C
n.411G>C
c.871G>C (p.Gly291Arg)
c.601G>C (p.Gly201Arg)
11g.123059073C>TCA383057902HSPA8c.1309G>A (p.Gly437Ser)
c.82G>A (p.Gly28Ser)
c.1252G>A (p.Gly418Ser)
c.-264G>A (n.-264G>A)
n.1056G>A
n.411G>A
c.871G>A (p.Gly291Ser)
c.601G>A (p.Gly201Ser)
11g.123059074A=CA2005596691HSPA8c.1308T= (p.Pro436=)
c.81T= (p.Pro27=)
c.1251T= (p.Pro417=)
c.-265T= (n.-265T=)
n.1055T=
n.410T=
c.870T= (p.Pro290=)
c.600T= (p.Pro200=)
11g.123059074A>CCA477385650HSPA8c.1308T>G (p.Pro436=)
c.81T>G (p.Pro27=)
c.1251T>G (p.Pro417=)
c.-265T>G (n.-265T>G)
n.1055T>G
n.410T>G
c.870T>G (p.Pro290=)
c.600T>G (p.Pro200=)
11g.123059074A>GCA229967225HSPA8c.1308T>C (p.Pro436=)
c.81T>C (p.Pro27=)
c.1251T>C (p.Pro417=)
c.-265T>C (n.-265T>C)
n.1055T>C
n.410T>C
c.870T>C (p.Pro290=)
c.600T>C (p.Pro200=)
 dbSNP gnomAD v4
11g.123059074A>TCA477385651HSPA8c.1308T>A (p.Pro436=)
c.81T>A (p.Pro27=)
c.1251T>A (p.Pro417=)
c.-265T>A (n.-265T>A)
n.1055T>A
n.410T>A
c.870T>A (p.Pro290=)
c.600T>A (p.Pro200=)
11g.123059075G>ACA383057907HSPA8c.1307C>T (p.Pro436Leu)
c.80C>T (p.Pro27Leu)
c.1250C>T (p.Pro417Leu)
c.-266C>T (n.-266C>T)
n.1054C>T
n.409C>T
c.869C>T (p.Pro290Leu)
c.599C>T (p.Pro200Leu)
 dbSNP gnomAD v4
11g.123059075G>CCA383057909HSPA8c.1307C>G (p.Pro436Arg)
c.80C>G (p.Pro27Arg)
c.1250C>G (p.Pro417Arg)
c.-266C>G (n.-266C>G)
n.1054C>G
n.409C>G
c.869C>G (p.Pro290Arg)
c.599C>G (p.Pro200Arg)
11g.123059075G>TCA383057911HSPA8c.1307C>A (p.Pro436His)
c.80C>A (p.Pro27His)
c.1250C>A (p.Pro417His)
c.-266C>A (n.-266C>A)
n.1054C>A
n.409C>A
c.869C>A (p.Pro290His)
c.599C>A (p.Pro200His)
11g.123059076G>ACA383057914HSPA8c.1306C>T (p.Pro436Ser)
c.79C>T (p.Pro27Ser)
c.1249C>T (p.Pro417Ser)
c.-267C>T (n.-267C>T)
n.1053C>T
n.408C>T
c.868C>T (p.Pro290Ser)
c.598C>T (p.Pro200Ser)
 gnomAD v4
11g.123059076G>CCA383057916HSPA8c.1306C>G (p.Pro436Ala)
c.79C>G (p.Pro27Ala)
c.1249C>G (p.Pro417Ala)
c.-267C>G (n.-267C>G)
n.1053C>G
n.408C>G
c.868C>G (p.Pro290Ala)
c.598C>G (p.Pro200Ala)
 gnomAD v4
11g.123059076G>TCA383057918HSPA8c.1306C>A (p.Pro436Thr)
c.79C>A (p.Pro27Thr)
c.1249C>A (p.Pro417Thr)
c.-267C>A (n.-267C>A)
n.1053C>A
n.408C>A
c.868C>A (p.Pro290Thr)
c.598C>A (p.Pro200Thr)
11g.123059077C>ACA383057921HSPA8c.1305G>T (p.Gln435His)
c.78G>T (p.Gln26His)
c.1248G>T (p.Gln416His)
c.-268G>T (n.-268G>T)
n.1052G>T
n.407G>T
c.867G>T (p.Gln289His)
c.597G>T (p.Gln199His)
 dbSNP
11g.123059077C=CA2005596698HSPA8c.1305G= (p.Gln435=)
c.78G= (p.Gln26=)
c.1248G= (p.Gln416=)
c.-268G= (n.-268G=)
n.1052G=
n.407G=
c.867G= (p.Gln289=)
c.597G= (p.Gln199=)
11g.123059077C>GCA383057923HSPA8c.1305G>C (p.Gln435His)
c.78G>C (p.Gln26His)
c.1248G>C (p.Gln416His)
c.-268G>C (n.-268G>C)
n.1052G>C
n.407G>C
c.867G>C (p.Gln289His)
c.597G>C (p.Gln199His)
11g.123059077C>TCA6332520HSPA8c.1305G>A (p.Gln435=)
c.78G>A (p.Gln26=)
c.1248G>A (p.Gln416=)
c.-268G>A (n.-268G>A)
n.1052G>A
n.407G>A
c.867G>A (p.Gln289=)
c.597G>A (p.Gln199=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.123059078T>ACA383057926HSPA8c.1304A>T (p.Gln435Leu)
c.77A>T (p.Gln26Leu)
c.1247A>T (p.Gln416Leu)
c.-269A>T (n.-269A>T)
n.1051A>T
n.406A>T
c.866A>T (p.Gln289Leu)
c.596A>T (p.Gln199Leu)
11g.123059078T>CCA383057927HSPA8c.1304A>G (p.Gln435Arg)
c.77A>G (p.Gln26Arg)
c.1247A>G (p.Gln416Arg)
c.-269A>G (n.-269A>G)
n.1051A>G
n.406A>G
c.866A>G (p.Gln289Arg)
c.596A>G (p.Gln199Arg)
11g.123059078T>GCA383057929HSPA8c.1304A>C (p.Gln435Pro)
c.77A>C (p.Gln26Pro)
c.1247A>C (p.Gln416Pro)
c.-269A>C (n.-269A>C)
n.1051A>C
n.406A>C
c.866A>C (p.Gln289Pro)
c.596A>C (p.Gln199Pro)
11g.123059079G>ACA383057933HSPA8c.1303C>T (p.Gln435Ter)
c.76C>T (p.Gln26Ter)
c.1246C>T (p.Gln416Ter)
c.-270C>T (n.-270C>T)
n.1050C>T
n.405C>T
c.865C>T (p.Gln289Ter)
c.595C>T (p.Gln199Ter)
11g.123059079G>CCA383057935HSPA8c.1303C>G (p.Gln435Glu)
c.76C>G (p.Gln26Glu)
c.1246C>G (p.Gln416Glu)
c.-270C>G (n.-270C>G)
n.1050C>G
n.405C>G
c.865C>G (p.Gln289Glu)
c.595C>G (p.Gln199Glu)
11g.123059079G>TCA383057931HSPA8c.1303C>A (p.Gln435Lys)
c.76C>A (p.Gln26Lys)
c.1246C>A (p.Gln416Lys)
c.-270C>A (n.-270C>A)
n.1050C>A
n.405C>A
c.865C>A (p.Gln289Lys)
c.595C>A (p.Gln199Lys)
11g.123059080G>ACA477385655HSPA8c.1302C>T (p.Asn434=)
c.75C>T (p.Asn25=)
c.1245C>T (p.Asn415=)
c.-271C>T (n.-271C>T)
n.1049C>T
n.404C>T
c.864C>T (p.Asn288=)
c.594C>T (p.Asn198=)
11g.123059080G>CCA383057939HSPA8c.1302C>G (p.Asn434Lys)
c.75C>G (p.Asn25Lys)
c.1245C>G (p.Asn415Lys)
c.-271C>G (n.-271C>G)
n.1049C>G
n.404C>G
c.864C>G (p.Asn288Lys)
c.594C>G (p.Asn198Lys)
11g.123059080G>TCA383057937HSPA8c.1302C>A (p.Asn434Lys)
c.75C>A (p.Asn25Lys)
c.1245C>A (p.Asn415Lys)
c.-271C>A (n.-271C>A)
n.1049C>A
n.404C>A
c.864C>A (p.Asn288Lys)
c.594C>A (p.Asn198Lys)
11g.123059081T>ACA383057941HSPA8c.1301A>T (p.Asn434Ile)
c.74A>T (p.Asn25Ile)
c.1244A>T (p.Asn415Ile)
c.-272A>T (n.-272A>T)
n.1048A>T
n.403A>T
c.863A>T (p.Asn288Ile)
c.593A>T (p.Asn198Ile)
11g.123059081T>CCA6332521HSPA8c.1301A>G (p.Asn434Ser)
c.74A>G (p.Asn25Ser)
c.1244A>G (p.Asn415Ser)
c.-272A>G (n.-272A>G)
n.1048A>G
n.403A>G
c.863A>G (p.Asn288Ser)
c.593A>G (p.Asn198Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.123059081T>GCA383057943HSPA8c.1301A>C (p.Asn434Thr)
c.74A>C (p.Asn25Thr)
c.1244A>C (p.Asn415Thr)
c.-272A>C (n.-272A>C)
n.1048A>C
n.403A>C
c.863A>C (p.Asn288Thr)
c.593A>C (p.Asn198Thr)
 gnomAD v4
11g.123059081T=CA2005596704HSPA8c.1301A= (p.Asn434=)
c.74A= (p.Asn25=)
c.1244A= (p.Asn415=)
c.-272A= (n.-272A=)
n.1048A=
n.403A=
c.863A= (p.Asn288=)
c.593A= (p.Asn198=)
11g.123059082T>ACA383057945HSPA8c.1300A>T (p.Asn434Tyr)
c.73A>T (p.Asn25Tyr)
c.1243A>T (p.Asn415Tyr)
c.-273A>T (n.-273A>T)
n.1047A>T
n.402A>T
c.862A>T (p.Asn288Tyr)
c.592A>T (p.Asn198Tyr)
11g.123059082T>CCA383057949HSPA8c.1300A>G (p.Asn434Asp)
c.73A>G (p.Asn25Asp)
c.1243A>G (p.Asn415Asp)
c.-273A>G (n.-273A>G)
n.1047A>G
n.402A>G
c.862A>G (p.Asn288Asp)
c.592A>G (p.Asn198Asp)
 gnomAD v4
11g.123059082T>GCA383057947HSPA8c.1300A>C (p.Asn434His)
c.73A>C (p.Asn25His)
c.1243A>C (p.Asn415His)
c.-273A>C (n.-273A>C)
n.1047A>C
n.402A>C
c.862A>C (p.Asn288His)
c.592A>C (p.Asn198His)
11g.123059083G>ACA6332522HSPA8c.1299C>T (p.Asp433=)
c.72C>T (p.Asp24=)
c.1242C>T (p.Asp414=)
c.-274C>T (n.-274C>T)
n.1046C>T
n.401C>T
c.861C>T (p.Asp287=)
c.591C>T (p.Asp197=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.123059083G>CCA383057954HSPA8c.1299C>G (p.Asp433Glu)
c.72C>G (p.Asp24Glu)
c.1242C>G (p.Asp414Glu)
c.-274C>G (n.-274C>G)
n.1046C>G
n.401C>G
c.861C>G (p.Asp287Glu)
c.591C>G (p.Asp197Glu)
11g.123059083G=CA2005596718HSPA8c.1299C= (p.Asp433=)
c.72C= (p.Asp24=)
c.1242C= (p.Asp414=)
c.-274C= (n.-274C=)
n.1046C=
n.401C=
c.861C= (p.Asp287=)
c.591C= (p.Asp197=)
11g.123059083G>TCA383057952HSPA8c.1299C>A (p.Asp433Glu)
c.72C>A (p.Asp24Glu)
c.1242C>A (p.Asp414Glu)
c.-274C>A (n.-274C>A)
n.1046C>A
n.401C>A
c.861C>A (p.Asp287Glu)
c.591C>A (p.Asp197Glu)
11g.123059084T>ACA383057957HSPA8c.1298A>T (p.Asp433Val)
c.71A>T (p.Asp24Val)
c.1241A>T (p.Asp414Val)
c.-275A>T (n.-275A>T)
n.1045A>T
n.400A>T
c.860A>T (p.Asp287Val)
c.590A>T (p.Asp197Val)
11g.123059084T>CCA383057959HSPA8c.1298A>G (p.Asp433Gly)
c.71A>G (p.Asp24Gly)
c.1241A>G (p.Asp414Gly)
c.-275A>G (n.-275A>G)
n.1045A>G
n.400A>G
c.860A>G (p.Asp287Gly)
c.590A>G (p.Asp197Gly)
 COSMIC
11g.123059084T>GCA383057960HSPA8c.1298A>C (p.Asp433Ala)
c.71A>C (p.Asp24Ala)
c.1241A>C (p.Asp414Ala)
c.-275A>C (n.-275A>C)
n.1045A>C
n.400A>C
c.860A>C (p.Asp287Ala)
c.590A>C (p.Asp197Ala)
11g.123059085C>ACA383057961HSPA8c.1297G>T (p.Asp433Tyr)
c.70G>T (p.Asp24Tyr)
c.1240G>T (p.Asp414Tyr)
c.-276G>T (n.-276G>T)
n.1044G>T
n.399G>T
c.859G>T (p.Asp287Tyr)
c.589G>T (p.Asp197Tyr)
11g.123059085C>GCA383057963HSPA8c.1297G>C (p.Asp433His)
c.70G>C (p.Asp24His)
c.1240G>C (p.Asp414His)
c.-276G>C (n.-276G>C)
n.1044G>C
n.399G>C
c.859G>C (p.Asp287His)
c.589G>C (p.Asp197His)
11g.123059085C>TCA383057965HSPA8c.1297G>A (p.Asp433Asn)
c.70G>A (p.Asp24Asn)
c.1240G>A (p.Asp414Asn)
c.-276G>A (n.-276G>A)
n.1044G>A
n.399G>A
c.859G>A (p.Asp287Asn)
c.589G>A (p.Asp197Asn)
 gnomAD v4
11g.123059086A=CA2005596740HSPA8c.1296T= (p.Ser432=)
c.69T= (p.Ser23=)
c.1239T= (p.Ser413=)
c.-277T= (n.-277T=)
n.1043T=
n.398T=
c.858T= (p.Ser286=)
c.588T= (p.Ser196=)
11g.123059086A>CCA477385661HSPA8c.1296T>G (p.Ser432=)
c.69T>G (p.Ser23=)
c.1239T>G (p.Ser413=)
c.-277T>G (n.-277T>G)
n.1043T>G
n.398T>G
c.858T>G (p.Ser286=)
c.588T>G (p.Ser196=)
11g.123059086A>GCA477385662HSPA8c.1296T>C (p.Ser432=)
c.69T>C (p.Ser23=)
c.1239T>C (p.Ser413=)
c.-277T>C (n.-277T>C)
n.1043T>C
n.398T>C
c.858T>C (p.Ser286=)
c.588T>C (p.Ser196=)
11g.123059086A>TCA477385663HSPA8c.1296T>A (p.Ser432=)
c.69T>A (p.Ser23=)
c.1239T>A (p.Ser413=)
c.-277T>A (n.-277T>A)
n.1043T>A
n.398T>A
c.858T>A (p.Ser286=)
c.588T>A (p.Ser196=)
 dbSNP
11g.123059087G>ACA383057967HSPA8c.1295C>T (p.Ser432Phe)
c.68C>T (p.Ser23Phe)
c.1238C>T (p.Ser413Phe)
c.-278C>T (n.-278C>T)
n.1042C>T
n.397C>T
c.857C>T (p.Ser286Phe)
c.587C>T (p.Ser196Phe)
11g.123059087G>CCA383057969HSPA8c.1295C>G (p.Ser432Cys)
c.68C>G (p.Ser23Cys)
c.1238C>G (p.Ser413Cys)
c.-278C>G (n.-278C>G)
n.1042C>G
n.397C>G
c.857C>G (p.Ser286Cys)
c.587C>G (p.Ser196Cys)
 gnomAD v4
11g.123059087G>TCA383057970HSPA8c.1295C>A (p.Ser432Tyr)
c.68C>A (p.Ser23Tyr)
c.1238C>A (p.Ser413Tyr)
c.-278C>A (n.-278C>A)
n.1042C>A
n.397C>A
c.857C>A (p.Ser286Tyr)
c.587C>A (p.Ser196Tyr)
11g.123059088A>CCA383057973HSPA8c.1294T>G (p.Ser432Ala)
c.67T>G (p.Ser23Ala)
c.1237T>G (p.Ser413Ala)
c.-279T>G (n.-279T>G)
n.1041T>G
n.396T>G
c.856T>G (p.Ser286Ala)
c.586T>G (p.Ser196Ala)
11g.123059088A>GCA383057975HSPA8c.1294T>C (p.Ser432Pro)
c.67T>C (p.Ser23Pro)
c.1237T>C (p.Ser413Pro)
c.-279T>C (n.-279T>C)
n.1041T>C
n.396T>C
c.856T>C (p.Ser286Pro)
c.586T>C (p.Ser196Pro)
11g.123059088A>TCA383057977HSPA8c.1294T>A (p.Ser432Thr)
c.67T>A (p.Ser23Thr)
c.1237T>A (p.Ser413Thr)
c.-279T>A (n.-279T>A)
n.1041T>A
n.396T>A
c.856T>A (p.Ser286Thr)
c.586T>A (p.Ser196Thr)
11g.123059089A>CCA383057979HSPA8c.1293T>G (p.Tyr431Ter)
c.66T>G (p.Tyr22Ter)
c.1236T>G (p.Tyr412Ter)
c.-280T>G (n.-280T>G)
n.1040T>G
n.395T>G
c.855T>G (p.Tyr285Ter)
c.585T>G (p.Tyr195Ter)
11g.123059089A>GCA477385667HSPA8c.1293T>C (p.Tyr431=)
c.66T>C (p.Tyr22=)
c.1236T>C (p.Tyr412=)
c.-280T>C (n.-280T>C)
n.1040T>C
n.395T>C
c.855T>C (p.Tyr285=)
c.585T>C (p.Tyr195=)
 gnomAD v4
11g.123059089A>TCA383057980HSPA8c.1293T>A (p.Tyr431Ter)
c.66T>A (p.Tyr22Ter)
c.1236T>A (p.Tyr412Ter)
c.-280T>A (n.-280T>A)
n.1040T>A
n.395T>A
c.855T>A (p.Tyr285Ter)
c.585T>A (p.Tyr195Ter)
11g.123059090T>ACA383057983HSPA8c.1292A>T (p.Tyr431Phe)
c.65A>T (p.Tyr22Phe)
c.1235A>T (p.Tyr412Phe)
c.-281A>T (n.-281A>T)
n.1039A>T
n.394A>T
c.854A>T (p.Tyr285Phe)
c.584A>T (p.Tyr195Phe)
11g.123059090T>CCA383057985HSPA8c.1292A>G (p.Tyr431Cys)
c.65A>G (p.Tyr22Cys)
c.1235A>G (p.Tyr412Cys)
c.-281A>G (n.-281A>G)
n.1039A>G
n.394A>G
c.854A>G (p.Tyr285Cys)
c.584A>G (p.Tyr195Cys)
11g.123059090T>GCA383057988HSPA8c.1292A>C (p.Tyr431Ser)
c.65A>C (p.Tyr22Ser)
c.1235A>C (p.Tyr412Ser)
c.-281A>C (n.-281A>C)
n.1039A>C
n.394A>C
c.854A>C (p.Tyr285Ser)
c.584A>C (p.Tyr195Ser)
11g.123059091A>CCA383057990HSPA8c.1291T>G (p.Tyr431Asp)
c.64T>G (p.Tyr22Asp)
c.1234T>G (p.Tyr412Asp)
c.-282T>G (n.-282T>G)
n.1038T>G
n.393T>G
c.853T>G (p.Tyr285Asp)
c.583T>G (p.Tyr195Asp)
11g.123059091A>GCA383057992HSPA8c.1291T>C (p.Tyr431His)
c.64T>C (p.Tyr22His)
c.1234T>C (p.Tyr412His)
c.-282T>C (n.-282T>C)
n.1038T>C
n.393T>C
c.853T>C (p.Tyr285His)
c.583T>C (p.Tyr195His)
11g.123059091A>TCA383057994HSPA8c.1291T>A (p.Tyr431Asn)
c.64T>A (p.Tyr22Asn)
c.1234T>A (p.Tyr412Asn)
c.-282T>A (n.-282T>A)
n.1038T>A
n.393T>A
c.853T>A (p.Tyr285Asn)
c.583T>A (p.Tyr195Asn)
11g.123059092G>ACA477385670HSPA8c.1290C>T (p.Thr430=)
c.63C>T (p.Thr21=)
c.1233C>T (p.Thr411=)
c.-283C>T (n.-283C>T)
n.1037C>T
n.392C>T
c.852C>T (p.Thr284=)
c.582C>T (p.Thr194=)
 dbSNP gnomAD v4
11g.123059092G>CCA6332523HSPA8c.1290C>G (p.Thr430=)
c.63C>G (p.Thr21=)
c.1233C>G (p.Thr411=)
c.-283C>G (n.-283C>G)
n.1037C>G
n.392C>G
c.852C>G (p.Thr284=)
c.582C>G (p.Thr194=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.123059092G=CA2005596744HSPA8c.1290C= (p.Thr430=)
c.63C= (p.Thr21=)
c.1233C= (p.Thr411=)
c.-283C= (n.-283C=)
n.1037C=
n.392C=
c.852C= (p.Thr284=)
c.582C= (p.Thr194=)
11g.123059092G>TCA477385671HSPA8c.1290C>A (p.Thr430=)
c.63C>A (p.Thr21=)
c.1233C>A (p.Thr411=)
c.-283C>A (n.-283C>A)
n.1037C>A
n.392C>A
c.852C>A (p.Thr284=)
c.582C>A (p.Thr194=)
11g.123059093G>ACA383057997HSPA8c.1289C>T (p.Thr430Ile)
c.62C>T (p.Thr21Ile)
c.1232C>T (p.Thr411Ile)
c.-284C>T (n.-284C>T)
n.1036C>T
n.391C>T
c.851C>T (p.Thr284Ile)
c.581C>T (p.Thr194Ile)
11g.123059093G>CCA383057999HSPA8c.1289C>G (p.Thr430Ser)
c.62C>G (p.Thr21Ser)
c.1232C>G (p.Thr411Ser)
c.-284C>G (n.-284C>G)
n.1036C>G
n.391C>G
c.851C>G (p.Thr284Ser)
c.581C>G (p.Thr194Ser)
11g.123059093G>TCA383058001HSPA8c.1289C>A (p.Thr430Asn)
c.62C>A (p.Thr21Asn)
c.1232C>A (p.Thr411Asn)
c.-284C>A (n.-284C>A)
n.1036C>A
n.391C>A
c.851C>A (p.Thr284Asn)
c.581C>A (p.Thr194Asn)
11g.123059094T>ACA383058005HSPA8c.1288A>T (p.Thr430Ser)
c.61A>T (p.Thr21Ser)
c.1231A>T (p.Thr411Ser)
c.-285A>T (n.-285A>T)
n.1035A>T
n.390A>T
c.850A>T (p.Thr284Ser)
c.580A>T (p.Thr194Ser)
11g.123059094T>CCA383058007HSPA8c.1288A>G (p.Thr430Ala)
c.61A>G (p.Thr21Ala)
c.1231A>G (p.Thr411Ala)
c.-285A>G (n.-285A>G)
n.1035A>G
n.390A>G
c.850A>G (p.Thr284Ala)
c.580A>G (p.Thr194Ala)
11g.123059094T>GCA383058003HSPA8c.1288A>C (p.Thr430Pro)
c.61A>C (p.Thr21Pro)
c.1231A>C (p.Thr411Pro)
c.-285A>C (n.-285A>C)
n.1035A>C
n.390A>C
c.850A>C (p.Thr284Pro)
c.580A>C (p.Thr194Pro)
11g.123059095A=CA2005596749HSPA8c.1287T= (p.Thr429=)
c.60T= (p.Thr20=)
c.1230T= (p.Thr410=)
c.-286T= (n.-286T=)
n.1034T=
n.389T=
c.849T= (p.Thr283=)
c.579T= (p.Thr193=)
11g.123059095A>CCA477385677HSPA8c.1287T>G (p.Thr429=)
c.60T>G (p.Thr20=)
c.1230T>G (p.Thr410=)
c.-286T>G (n.-286T>G)
n.1034T>G
n.389T>G
c.849T>G (p.Thr283=)
c.579T>G (p.Thr193=)
 dbSNP gnomAD v3 gnomAD v4
11g.123059095A>GCA477385676HSPA8c.1287T>C (p.Thr429=)
c.60T>C (p.Thr20=)
c.1230T>C (p.Thr410=)
c.-286T>C (n.-286T>C)
n.1034T>C
n.389T>C
c.849T>C (p.Thr283=)
c.579T>C (p.Thr193=)
11g.123059095A>TCA477385675HSPA8c.1287T>A (p.Thr429=)
c.60T>A (p.Thr20=)
c.1230T>A (p.Thr410=)
c.-286T>A (n.-286T>A)
n.1034T>A
n.389T>A
c.849T>A (p.Thr283=)
c.579T>A (p.Thr193=)
11g.123059096G>ACA383058010HSPA8c.1286C>T (p.Thr429Ile)
c.59C>T (p.Thr20Ile)
c.1229C>T (p.Thr410Ile)
c.-287C>T (n.-287C>T)
n.1033C>T
n.388C>T
c.848C>T (p.Thr283Ile)
c.578C>T (p.Thr193Ile)
11g.123059096G>CCA383058012HSPA8c.1286C>G (p.Thr429Ser)
c.59C>G (p.Thr20Ser)
c.1229C>G (p.Thr410Ser)
c.-287C>G (n.-287C>G)
n.1033C>G
n.388C>G
c.848C>G (p.Thr283Ser)
c.578C>G (p.Thr193Ser)
 dbSNP
11g.123059096G=CA2005596757HSPA8c.1286C= (p.Thr429=)
c.59C= (p.Thr20=)
c.1229C= (p.Thr410=)
c.-287C= (n.-287C=)
n.1033C=
n.388C=
c.848C= (p.Thr283=)
c.578C= (p.Thr193=)
11g.123059096G>TCA383058014HSPA8c.1286C>A (p.Thr429Asn)
c.59C>A (p.Thr20Asn)
c.1229C>A (p.Thr410Asn)
c.-287C>A (n.-287C>A)
n.1033C>A
n.388C>A
c.848C>A (p.Thr283Asn)
c.578C>A (p.Thr193Asn)
11g.123059097T>ACA383058016HSPA8c.1285A>T (p.Thr429Ser)
c.58A>T (p.Thr20Ser)
c.1228A>T (p.Thr410Ser)
c.-288A>T (n.-288A>T)
n.1032A>T
n.387A>T
c.847A>T (p.Thr283Ser)
c.577A>T (p.Thr193Ser)
11g.123059097T>CCA383058018HSPA8c.1285A>G (p.Thr429Ala)
c.58A>G (p.Thr20Ala)
c.1228A>G (p.Thr410Ala)
c.-288A>G (n.-288A>G)
n.1032A>G
n.387A>G
c.847A>G (p.Thr283Ala)
c.577A>G (p.Thr193Ala)
11g.123059097T>GCA383058020HSPA8c.1285A>C (p.Thr429Pro)
c.58A>C (p.Thr20Pro)
c.1228A>C (p.Thr410Pro)
c.-288A>C (n.-288A>C)
n.1032A>C
n.387A>C
c.847A>C (p.Thr283Pro)
c.577A>C (p.Thr193Pro)
11g.123059098G>ACA477385679HSPA8c.1284C>T (p.Phe428=)
c.57C>T (p.Phe19=)
c.1227C>T (p.Phe409=)
n.1031C>T
n.386C>T
c.846C>T (p.Phe282=)
c.576C>T (p.Phe192=)
 dbSNP gnomAD v3 gnomAD v4
11g.123059098G>CCA383058023HSPA8c.1284C>G (p.Phe428Leu)
c.57C>G (p.Phe19Leu)
c.1227C>G (p.Phe409Leu)
n.1031C>G
n.386C>G
c.846C>G (p.Phe282Leu)
c.576C>G (p.Phe192Leu)
11g.123059098G=CA2005596775HSPA8c.1284C= (p.Phe428=)
c.57C= (p.Phe19=)
c.1227C= (p.Phe409=)
n.1031C=
n.386C=
c.846C= (p.Phe282=)
c.576C= (p.Phe192=)
11g.123059098G>TCA383058022HSPA8c.1284C>A (p.Phe428Leu)
c.57C>A (p.Phe19Leu)
c.1227C>A (p.Phe409Leu)
n.1031C>A
n.386C>A
c.846C>A (p.Phe282Leu)
c.576C>A (p.Phe192Leu)
11g.123059099A>CCA383058026HSPA8c.1283T>G (p.Phe428Cys)
c.56T>G (p.Phe19Cys)
c.1226T>G (p.Phe409Cys)
n.1030T>G
n.385T>G
c.845T>G (p.Phe282Cys)
c.575T>G (p.Phe192Cys)
11g.123059099A>GCA383058028HSPA8c.1283T>C (p.Phe428Ser)
c.56T>C (p.Phe19Ser)
c.1226T>C (p.Phe409Ser)
n.1030T>C
n.385T>C
c.845T>C (p.Phe282Ser)
c.575T>C (p.Phe192Ser)
11g.123059099A>TCA383058029HSPA8c.1283T>A (p.Phe428Tyr)
c.56T>A (p.Phe19Tyr)
c.1226T>A (p.Phe409Tyr)
n.1030T>A
n.385T>A
c.845T>A (p.Phe282Tyr)
c.575T>A (p.Phe192Tyr)
11g.123059100A>CCA383058032HSPA8c.1282T>G (p.Phe428Val)
c.55T>G (p.Phe19Val)
c.1225T>G (p.Phe409Val)
n.1029T>G
n.384T>G
c.844T>G (p.Phe282Val)
c.574T>G (p.Phe192Val)
11g.123059100A>GCA383058034HSPA8c.1282T>C (p.Phe428Leu)
c.55T>C (p.Phe19Leu)
c.1225T>C (p.Phe409Leu)
n.1029T>C
n.384T>C
c.844T>C (p.Phe282Leu)
c.574T>C (p.Phe192Leu)
11g.123059100A>TCA383058035HSPA8c.1282T>A (p.Phe428Ile)
c.55T>A (p.Phe19Ile)
c.1225T>A (p.Phe409Ile)
n.1029T>A
n.384T>A
c.844T>A (p.Phe282Ile)
c.574T>A (p.Phe192Ile)
11g.123059101G>ACA477385682HSPA8c.1281C>T (p.Thr427=)
c.54C>T (p.Thr18=)
c.1224C>T (p.Thr408=)
n.1028C>T
n.383C>T
c.843C>T (p.Thr281=)
c.573C>T (p.Thr191=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.123059101G>CCA477385683HSPA8c.1281C>G (p.Thr427=)
c.54C>G (p.Thr18=)
c.1224C>G (p.Thr408=)
n.1028C>G
n.383C>G
c.843C>G (p.Thr281=)
c.573C>G (p.Thr191=)
 gnomAD v4
11g.123059101G=CA2005596798HSPA8c.1281C= (p.Thr427=)
c.54C= (p.Thr18=)
c.1224C= (p.Thr408=)
n.1028C=
n.383C=
c.843C= (p.Thr281=)
c.573C= (p.Thr191=)
11g.123059101G>TCA477385685HSPA8c.1281C>A (p.Thr427=)
c.54C>A (p.Thr18=)
c.1224C>A (p.Thr408=)
n.1028C>A
n.383C>A
c.843C>A (p.Thr281=)
c.573C>A (p.Thr191=)
 gnomAD v4
11g.123059102G>ACA6332524HSPA8c.1280C>T (p.Thr427Ile)
c.53C>T (p.Thr18Ile)
c.1223C>T (p.Thr408Ile)
n.1027C>T
n.382C>T
c.842C>T (p.Thr281Ile)
c.572C>T (p.Thr191Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.123059102G>CCA383058040HSPA8c.1280C>G (p.Thr427Ser)
c.53C>G (p.Thr18Ser)
c.1223C>G (p.Thr408Ser)
n.1027C>G
n.382C>G
c.842C>G (p.Thr281Ser)
c.572C>G (p.Thr191Ser)
11g.123059102G=CA2005596802HSPA8c.1280C= (p.Thr427=)
c.53C= (p.Thr18=)
c.1223C= (p.Thr408=)
n.1027C=
n.382C=
c.842C= (p.Thr281=)
c.572C= (p.Thr191=)
11g.123059102G>TCA383058038HSPA8c.1280C>A (p.Thr427Asn)
c.53C>A (p.Thr18Asn)
c.1223C>A (p.Thr408Asn)
n.1027C>A
n.382C>A
c.842C>A (p.Thr281Asn)
c.572C>A (p.Thr191Asn)
11g.123059103T>ACA383058042HSPA8c.1279A>T (p.Thr427Ser)
c.52A>T (p.Thr18Ser)
c.1222A>T (p.Thr408Ser)
n.1026A>T
n.381A>T
c.841A>T (p.Thr281Ser)
c.571A>T (p.Thr191Ser)
11g.123059103T>CCA383058044HSPA8c.1279A>G (p.Thr427Ala)
c.52A>G (p.Thr18Ala)
c.1222A>G (p.Thr408Ala)
n.1026A>G
n.381A>G
c.841A>G (p.Thr281Ala)
c.571A>G (p.Thr191Ala)
11g.123059103T>GCA383058046HSPA8c.1279A>C (p.Thr427Pro)
c.52A>C (p.Thr18Pro)
c.1222A>C (p.Thr408Pro)
n.1026A>C
n.381A>C
c.841A>C (p.Thr281Pro)
c.571A>C (p.Thr191Pro)
11g.123059104C>ACA383058048HSPA8c.1278G>T (p.Gln426His)
c.51G>T (p.Gln17His)
c.1221G>T (p.Gln407His)
n.1025G>T
n.381-1G>T
c.840G>T (p.Gln280His)
c.570G>T (p.Gln190His)
11g.123059104C>GCA383058049HSPA8c.1278G>C (p.Gln426His)
c.51G>C (p.Gln17His)
c.1221G>C (p.Gln407His)
n.1025G>C
n.381-1G>C
c.840G>C (p.Gln280His)
c.570G>C (p.Gln190His)
11g.123059104C>TCA477385689HSPA8c.1278G>A (p.Gln426=)
c.51G>A (p.Gln17=)
c.1221G>A (p.Gln407=)
n.1025G>A
n.381-1G>A
c.840G>A (p.Gln280=)
c.570G>A (p.Gln190=)
 gnomAD v4
11g.123059105T>ACA383058051HSPA8c.1277A>T (p.Gln426Leu)
c.50A>T (p.Gln17Leu)
c.1220A>T (p.Gln407Leu)
n.1024A>T
n.381-2A>T
c.839A>T (p.Gln280Leu)
c.569A>T (p.Gln190Leu)
11g.123059105T>CCA383058052HSPA8c.1277A>G (p.Gln426Arg)
c.50A>G (p.Gln17Arg)
c.1220A>G (p.Gln407Arg)
n.1024A>G
n.381-2A>G
c.839A>G (p.Gln280Arg)
c.569A>G (p.Gln190Arg)
11g.123059105T>GCA383058054HSPA8c.1277A>C (p.Gln426Pro)
c.50A>C (p.Gln17Pro)
c.1220A>C (p.Gln407Pro)
n.1024A>C
n.381-2A>C
c.839A>C (p.Gln280Pro)
c.569A>C (p.Gln190Pro)
11g.123059106G>ACA383058058HSPA8c.1276C>T (p.Gln426Ter)
c.49C>T (p.Gln17Ter)
c.1219C>T (p.Gln407Ter)
n.1023C>T
n.381-3C>T
c.838C>T (p.Gln280Ter)
c.568C>T (p.Gln190Ter)
11g.123059106G>CCA383058060HSPA8c.1276C>G (p.Gln426Glu)
c.49C>G (p.Gln17Glu)
c.1219C>G (p.Gln407Glu)
n.1023C>G
n.381-3C>G
c.838C>G (p.Gln280Glu)
c.568C>G (p.Gln190Glu)
11g.123059106G>TCA383058061HSPA8c.1276C>A (p.Gln426Lys)
c.49C>A (p.Gln17Lys)
c.1219C>A (p.Gln407Lys)
n.1023C>A
n.381-3C>A
c.838C>A (p.Gln280Lys)
c.568C>A (p.Gln190Lys)
11g.123059107T>ACA477385693HSPA8c.1275A>T (p.Thr425=)
c.48A>T (p.Thr16=)
c.1218A>T (p.Thr406=)
n.1022A>T
n.381-4A>T
c.837A>T (p.Thr279=)
c.567A>T (p.Thr189=)
11g.123059107T>CCA477385692HSPA8c.1275A>G (p.Thr425=)
c.48A>G (p.Thr16=)
c.1218A>G (p.Thr406=)
n.1022A>G
n.381-4A>G
c.837A>G (p.Thr279=)
c.567A>G (p.Thr189=)
 gnomAD v4
11g.123059107T>GCA477385691HSPA8c.1275A>C (p.Thr425=)
c.48A>C (p.Thr16=)
c.1218A>C (p.Thr406=)
n.1022A>C
n.381-4A>C
c.837A>C (p.Thr279=)
c.567A>C (p.Thr189=)
 dbSNP
11g.123059107T=CA2005596805HSPA8c.1275A= (p.Thr425=)
c.48A= (p.Thr16=)
c.1218A= (p.Thr406=)
n.1022A=
n.381-4A=
c.837A= (p.Thr279=)
c.567A= (p.Thr189=)
11g.123059108G>ACA383058068HSPA8c.1274C>T (p.Thr425Ile)
c.47C>T (p.Thr16Ile)
c.1217C>T (p.Thr406Ile)
n.1021C>T
n.381-5C>T
c.836C>T (p.Thr279Ile)
c.566C>T (p.Thr189Ile)
11g.123059108G>CCA383058066HSPA8c.1274C>G (p.Thr425Arg)
c.47C>G (p.Thr16Arg)
c.1217C>G (p.Thr406Arg)
n.1021C>G
n.381-5C>G
c.836C>G (p.Thr279Arg)
c.566C>G (p.Thr189Arg)
11g.123059108G>TCA383058064HSPA8c.1274C>A (p.Thr425Lys)
c.47C>A (p.Thr16Lys)
c.1217C>A (p.Thr406Lys)
n.1021C>A
n.381-5C>A
c.836C>A (p.Thr279Lys)
c.566C>A (p.Thr189Lys)
11g.123059109T>ACA383058070HSPA8c.1273A>T (p.Thr425Ser)
c.46A>T (p.Thr16Ser)
c.1216A>T (p.Thr406Ser)
n.1020A>T
n.381-6A>T
c.835A>T (p.Thr279Ser)
c.565A>T (p.Thr189Ser)
11g.123059109T>CCA383058074HSPA8c.1273A>G (p.Thr425Ala)
c.46A>G (p.Thr16Ala)
c.1216A>G (p.Thr406Ala)
n.1020A>G
n.381-6A>G
c.835A>G (p.Thr279Ala)
c.565A>G (p.Thr189Ala)
11g.123059109T>GCA383058072HSPA8c.1273A>C (p.Thr425Pro)
c.46A>C (p.Thr16Pro)
c.1216A>C (p.Thr406Pro)
n.1020A>C
n.381-6A>C
c.835A>C (p.Thr279Pro)
c.565A>C (p.Thr189Pro)
11g.123059110C>ACA383058076HSPA8c.1272G>T (p.Gln424His)
c.45G>T (p.Gln15His)
c.1215G>T (p.Gln405His)
n.1019G>T
n.381-7G>T
c.834G>T (p.Gln278His)
c.564G>T (p.Gln188His)
11g.123059110C>GCA383058078HSPA8c.1272G>C (p.Gln424His)
c.45G>C (p.Gln15His)
c.1215G>C (p.Gln405His)
n.1019G>C
n.381-7G>C
c.834G>C (p.Gln278His)
c.564G>C (p.Gln188His)
11g.123059110C>TCA477385696HSPA8c.1272G>A (p.Gln424=)
c.45G>A (p.Gln15=)
c.1215G>A (p.Gln405=)
n.1019G>A
n.381-7G>A
c.834G>A (p.Gln278=)
c.564G>A (p.Gln188=)
11g.123059111T>ACA383058080HSPA8c.1271A>T (p.Gln424Leu)
c.44A>T (p.Gln15Leu)
c.1214A>T (p.Gln405Leu)
n.1018A>T
n.381-8A>T
c.833A>T (p.Gln278Leu)
c.563A>T (p.Gln188Leu)
11g.123059111T>CCA383058082HSPA8c.1271A>G (p.Gln424Arg)
c.44A>G (p.Gln15Arg)
c.1214A>G (p.Gln405Arg)
n.1018A>G
n.381-8A>G
c.833A>G (p.Gln278Arg)
c.563A>G (p.Gln188Arg)
11g.123059111T>GCA383058084HSPA8c.1271A>C (p.Gln424Pro)
c.44A>C (p.Gln15Pro)
c.1214A>C (p.Gln405Pro)
n.1018A>C
n.381-8A>C
c.833A>C (p.Gln278Pro)
c.563A>C (p.Gln188Pro)
11g.123059112G>ACA383058087HSPA8c.1270C>T (p.Gln424Ter)
c.43C>T (p.Gln15Ter)
c.1213C>T (p.Gln405Ter)
n.1017C>T
n.381-9C>T
c.832C>T (p.Gln278Ter)
c.562C>T (p.Gln188Ter)
11g.123059112G>CCA383058089HSPA8c.1270C>G (p.Gln424Glu)
c.43C>G (p.Gln15Glu)
c.1213C>G (p.Gln405Glu)
n.1017C>G
n.381-9C>G
c.832C>G (p.Gln278Glu)
c.562C>G (p.Gln188Glu)
11g.123059112G=CA2005596810HSPA8c.1270C= (p.Gln424=)
c.43C= (p.Gln15=)
c.1213C= (p.Gln405=)
n.1017C=
n.381-9C=
c.832C= (p.Gln278=)
c.562C= (p.Gln188=)
11g.123059112G>TCA383058091HSPA8c.1270C>A (p.Gln424Lys)
c.43C>A (p.Gln15Lys)
c.1213C>A (p.Gln405Lys)
n.1017C>A
n.381-9C>A
c.832C>A (p.Gln278Lys)
c.562C>A (p.Gln188Lys)
 dbSNP gnomAD v2 gnomAD v4
11g.123059113C>ACA383058093HSPA8c.1269G>T (p.Lys423Asn)
c.42G>T (p.Lys14Asn)
c.1212G>T (p.Lys404Asn)
n.1016G>T
n.381-10G>T
c.831G>T (p.Lys277Asn)
c.561G>T (p.Lys187Asn)
11g.123059113C=CA2005596840HSPA8c.1269G= (p.Lys423=)
c.42G= (p.Lys14=)
c.1212G= (p.Lys404=)
n.1016G=
n.381-10G=
c.831G= (p.Lys277=)
c.561G= (p.Lys187=)
11g.123059113C>GCA383058095HSPA8c.1269G>C (p.Lys423Asn)
c.42G>C (p.Lys14Asn)
c.1212G>C (p.Lys404Asn)
n.1016G>C
n.381-10G>C
c.831G>C (p.Lys277Asn)
c.561G>C (p.Lys187Asn)
11g.123059113C>TCA6332525HSPA8c.1269G>A (p.Lys423=)
c.42G>A (p.Lys14=)
c.1212G>A (p.Lys404=)
n.1016G>A
n.381-10G>A
c.831G>A (p.Lys277=)
c.561G>A (p.Lys187=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.123059114T>ACA383058102HSPA8c.1268A>T (p.Lys423Met)
c.41A>T (p.Lys14Met)
c.1211A>T (p.Lys404Met)
n.1015A>T
n.381-11A>T
c.830A>T (p.Lys277Met)
c.560A>T (p.Lys187Met)
11g.123059114T>CCA383058100HSPA8c.1268A>G (p.Lys423Arg)
c.41A>G (p.Lys14Arg)
c.1211A>G (p.Lys404Arg)
n.1015A>G
n.381-11A>G
c.830A>G (p.Lys277Arg)
c.560A>G (p.Lys187Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.123059114T>GCA383058099HSPA8c.1268A>C (p.Lys423Thr)
c.41A>C (p.Lys14Thr)
c.1211A>C (p.Lys404Thr)
n.1015A>C
n.381-11A>C
c.830A>C (p.Lys277Thr)
c.560A>C (p.Lys187Thr)
11g.123059114T=CA2005596845HSPA8c.1268A= (p.Lys423=)
c.41A= (p.Lys14=)
c.1211A= (p.Lys404=)
n.1015A=
n.381-11A=
c.830A= (p.Lys277=)
c.560A= (p.Lys187=)
11g.123059115T>ACA383058104HSPA8c.1267A>T (p.Lys423Ter)
c.40A>T (p.Lys14Ter)
c.1210A>T (p.Lys404Ter)
n.1014A>T
n.381-12A>T
c.829A>T (p.Lys277Ter)
c.559A>T (p.Lys187Ter)
11g.123059115T>CCA383058106HSPA8c.1267A>G (p.Lys423Glu)
c.40A>G (p.Lys14Glu)
c.1210A>G (p.Lys404Glu)
n.1014A>G
n.381-12A>G
c.829A>G (p.Lys277Glu)
c.559A>G (p.Lys187Glu)
11g.123059115T>GCA383058108HSPA8c.1267A>C (p.Lys423Gln)
c.40A>C (p.Lys14Gln)
c.1210A>C (p.Lys404Gln)
n.1014A>C
n.381-12A>C
c.829A>C (p.Lys277Gln)
c.559A>C (p.Lys187Gln)
11g.123059116G>ACA477385701HSPA8c.1266C>T (p.Thr422=)
c.39C>T (p.Thr13=)
c.1209C>T (p.Thr403=)
n.1013C>T
n.381-13C>T
c.828C>T (p.Thr276=)
c.558C>T (p.Thr186=)
 gnomAD v4
11g.123059116G>CCA477385703HSPA8c.1266C>G (p.Thr422=)
c.39C>G (p.Thr13=)
c.1209C>G (p.Thr403=)
n.1013C>G
n.381-13C>G
c.828C>G (p.Thr276=)
c.558C>G (p.Thr186=)
11g.123059116G>TCA477385704HSPA8c.1266C>A (p.Thr422=)
c.39C>A (p.Thr13=)
c.1209C>A (p.Thr403=)
n.1013C>A
n.381-13C>A
c.828C>A (p.Thr276=)
c.558C>A (p.Thr186=)
11g.123059117G>ACA383058110HSPA8c.1265C>T (p.Thr422Ile)
c.38C>T (p.Thr13Ile)
c.1208C>T (p.Thr403Ile)
n.1012C>T
n.381-14C>T
c.827C>T (p.Thr276Ile)
c.557C>T (p.Thr186Ile)
 COSMIC
11g.123059117G>CCA383058112HSPA8c.1265C>G (p.Thr422Ser)
c.38C>G (p.Thr13Ser)
c.1208C>G (p.Thr403Ser)
n.1012C>G
n.381-14C>G
c.827C>G (p.Thr276Ser)
c.557C>G (p.Thr186Ser)
11g.123059117G>TCA383058114HSPA8c.1265C>A (p.Thr422Asn)
c.38C>A (p.Thr13Asn)
c.1208C>A (p.Thr403Asn)
n.1012C>A
n.381-14C>A
c.827C>A (p.Thr276Asn)
c.557C>A (p.Thr186Asn)
 gnomAD v4
11g.123059118T>ACA383058117HSPA8c.1264A>T (p.Thr422Ser)
c.37A>T (p.Thr13Ser)
c.1207A>T (p.Thr403Ser)
n.1011A>T
n.381-15A>T
c.826A>T (p.Thr276Ser)
c.556A>T (p.Thr186Ser)
11g.123059118T>CCA383058118HSPA8c.1264A>G (p.Thr422Ala)
c.37A>G (p.Thr13Ala)
c.1207A>G (p.Thr403Ala)
n.1011A>G
n.381-15A>G
c.826A>G (p.Thr276Ala)
c.556A>G (p.Thr186Ala)
 COSMIC
11g.123059118T>GCA383058120HSPA8c.1264A>C (p.Thr422Pro)
c.37A>C (p.Thr13Pro)
c.1207A>C (p.Thr403Pro)
n.1011A>C
n.381-15A>C
c.826A>C (p.Thr276Pro)
c.556A>C (p.Thr186Pro)
11g.123059119A=CA2005596850HSPA8c.1263T= (p.Pro421=)
c.36T= (p.Pro12=)
c.1206T= (p.Pro402=)
n.1010T=
n.381-16T=
c.825T= (p.Pro275=)
c.555T= (p.Pro185=)
11g.123059119A>CCA477385705HSPA8c.1263T>G (p.Pro421=)
c.36T>G (p.Pro12=)
c.1206T>G (p.Pro402=)
n.1010T>G
n.381-16T>G
c.825T>G (p.Pro275=)
c.555T>G (p.Pro185=)
11g.123059119A>GCA477385706HSPA8c.1263T>C (p.Pro421=)
c.36T>C (p.Pro12=)
c.1206T>C (p.Pro402=)
n.1010T>C
n.381-16T>C
c.825T>C (p.Pro275=)
c.555T>C (p.Pro185=)
 dbSNP
11g.123059119A>TCA477385707HSPA8c.1263T>A (p.Pro421=)
c.36T>A (p.Pro12=)
c.1206T>A (p.Pro402=)
n.1010T>A
n.381-16T>A
c.825T>A (p.Pro275=)
c.555T>A (p.Pro185=)
11g.123059120G>ACA383058123HSPA8c.1262C>T (p.Pro421Leu)
c.35C>T (p.Pro12Leu)
c.1205C>T (p.Pro402Leu)
n.1009C>T
n.381-17C>T
c.824C>T (p.Pro275Leu)
c.554C>T (p.Pro185Leu)
11g.123059120G>CCA383058124HSPA8c.1262C>G (p.Pro421Arg)
c.35C>G (p.Pro12Arg)
c.1205C>G (p.Pro402Arg)
n.1009C>G
n.381-17C>G
c.824C>G (p.Pro275Arg)
c.554C>G (p.Pro185Arg)
11g.123059120G>TCA383058126HSPA8c.1262C>A (p.Pro421His)
c.35C>A (p.Pro12His)
c.1205C>A (p.Pro402His)
n.1009C>A
n.381-17C>A
c.824C>A (p.Pro275His)
c.554C>A (p.Pro185His)
11g.123059121G>ACA383058132HSPA8c.1261C>T (p.Pro421Ser)
c.34C>T (p.Pro12Ser)
c.1204C>T (p.Pro402Ser)
n.1008C>T
n.381-18C>T
c.823C>T (p.Pro275Ser)
c.553C>T (p.Pro185Ser)
 dbSNP
11g.123059121G>CCA383058131HSPA8c.1261C>G (p.Pro421Ala)
c.34C>G (p.Pro12Ala)
c.1204C>G (p.Pro402Ala)
n.1008C>G
n.381-18C>G
c.823C>G (p.Pro275Ala)
c.553C>G (p.Pro185Ala)
11g.123059121G>TCA383058129HSPA8c.1261C>A (p.Pro421Thr)
c.34C>A (p.Pro12Thr)
c.1204C>A (p.Pro402Thr)
n.1008C>A
n.381-18C>A
c.823C>A (p.Pro275Thr)
c.553C>A (p.Pro185Thr)
11g.123059122A=CA2005596867HSPA8c.1260T= (p.Ile420=)
c.33T= (p.Ile11=)
c.1203T= (p.Ile401=)
n.1007T=
n.381-19T=
c.822T= (p.Ile274=)
c.552T= (p.Ile184=)
11g.123059122A>CCA383058134HSPA8c.1260T>G (p.Ile420Met)
c.33T>G (p.Ile11Met)
c.1203T>G (p.Ile401Met)
n.1007T>G
n.381-19T>G
c.822T>G (p.Ile274Met)
c.552T>G (p.Ile184Met)
11g.123059122A>GCA6332526HSPA8c.1260T>C (p.Ile420=)
c.33T>C (p.Ile11=)
c.1203T>C (p.Ile401=)
n.1007T>C
n.381-19T>C
c.822T>C (p.Ile274=)
c.552T>C (p.Ile184=)
 dbSNP ExAC gnomAD v2
11g.123059122A>TCA477385710HSPA8c.1260T>A (p.Ile420=)
c.33T>A (p.Ile11=)
c.1203T>A (p.Ile401=)
n.1007T>A
n.381-19T>A
c.822T>A (p.Ile274=)
c.552T>A (p.Ile184=)
11g.123059123A>CCA383058138HSPA8c.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)
11g.123059123A>GCA383058140HSPA8c.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)
11g.123059123A>TCA383058142HSPA8c.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)
11g.123059124T>ACA383058145HSPA8c.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)
11g.123059124T>CCA383058147HSPA8c.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
11g.123059124T>GCA383058149HSPA8c.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)
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.123059125G>ACA6332527HSPA8c.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
11g.123059125G>CCA477385712HSPA8c.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=)
11g.123059125G=CA2005596881HSPA8c.1257C= (p.Thr419=)
c.30C= (p.Thr10=)
c.1200C= (p.Thr400=)
n.1004C=
n.381-22C=
c.819C= (p.Thr273=)
c.549C= (p.Thr183=)
11g.123059125G>TCA477385713HSPA8c.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=)
11g.123059126G>ACA383058150HSPA8c.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)
11g.123059126G>CCA383058152HSPA8c.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)
11g.123059126G>TCA383058154HSPA8c.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)
11g.123059127T>ACA383058159HSPA8c.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)
11g.123059127T>CCA383058157HSPA8c.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)
11g.123059127T>GCA383058155HSPA8c.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
11g.123059127T=CA2005596886HSPA8c.1255A= (p.Thr419=)
c.28A= (p.Thr10=)
c.1198A= (p.Thr400=)
n.1002A=
n.381-24A=
c.817A= (p.Thr273=)
c.547A= (p.Thr183=)
11g.123059128G>ACA6332528HSPA8c.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
11g.123059128G>CCA477385714HSPA8c.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=)
11g.123059128G=CA2005596890HSPA8c.1254C= (p.Thr418=)
c.27C= (p.Thr9=)
c.1197C= (p.Thr399=)
n.1001C=
n.381-25C=
c.816C= (p.Thr272=)
c.546C= (p.Thr182=)
11g.123059128G>TCA477385715HSPA8c.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=)
11g.123059129G>ACA383058161HSPA8c.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
11g.123059129G>CCA383058163HSPA8c.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
11g.123059129G>TCA383058164HSPA8c.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)
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)

Number of alleles fetched