Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
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=)

Number of alleles fetched