Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.31816993C>ACA363416178HSPA1A,HSPA1Lc.1237C>A (p.Leu413Met)
c.742C>A (p.Leu248Met)
c.-14+4020G>T (n.-14+4020G>T)
6g.31816993C>GCA363416181HSPA1A,HSPA1Lc.1237C>G (p.Leu413Val)
c.742C>G (p.Leu248Val)
c.-14+4020G>C (n.-14+4020G>C)
6g.31816993C>TCA449806166HSPA1A,HSPA1Lc.1237C>T (p.Leu413=)
c.742C>T (p.Leu248=)
c.-14+4020G>A (n.-14+4020G>A)
6g.31816994T>ACA363416191HSPA1A,HSPA1Lc.1238T>A (p.Leu413Gln)
c.743T>A (p.Leu248Gln)
c.-14+4019A>T (n.-14+4019A>T)
6g.31816994T>CCA363416189HSPA1A,HSPA1Lc.1238T>C (p.Leu413Pro)
c.743T>C (p.Leu248Pro)
c.-14+4019A>G (n.-14+4019A>G)
6g.31816994T>GCA363416188HSPA1A,HSPA1Lc.1238T>G (p.Leu413Arg)
c.743T>G (p.Leu248Arg)
c.-14+4019A>C (n.-14+4019A>C)
6g.31816995G>ACA449806171HSPA1A,HSPA1Lc.1239G>A (p.Leu413=)
c.744G>A (p.Leu248=)
c.-14+4018C>T (n.-14+4018C>T)
6g.31816995G>CCA449806172HSPA1A,HSPA1Lc.1239G>C (p.Leu413=)
c.744G>C (p.Leu248=)
c.-14+4018C>G (n.-14+4018C>G)
6g.31816995G>TCA449806173HSPA1A,HSPA1Lc.1239G>T (p.Leu413=)
c.744G>T (p.Leu248=)
c.-14+4018C>A (n.-14+4018C>A)
6g.31816996A>CCA363416194HSPA1A,HSPA1Lc.1240A>C (p.Ile414Leu)
c.745A>C (p.Ile249Leu)
c.-14+4017T>G (n.-14+4017T>G)
6g.31816996A>GCA363416199HSPA1A,HSPA1Lc.1240A>G (p.Ile414Val)
c.745A>G (p.Ile249Val)
c.-14+4017T>C (n.-14+4017T>C)
6g.31816996A>TCA363416201HSPA1A,HSPA1Lc.1240A>T (p.Ile414Phe)
c.745A>T (p.Ile249Phe)
c.-14+4017T>A (n.-14+4017T>A)
6g.31816997T>ACA363416206HSPA1A,HSPA1Lc.1241T>A (p.Ile414Asn)
c.746T>A (p.Ile249Asn)
c.-14+4016A>T (n.-14+4016A>T)
6g.31816997T>CCA363416222HSPA1A,HSPA1Lc.1241T>C (p.Ile414Thr)
c.746T>C (p.Ile249Thr)
c.-14+4016A>G (n.-14+4016A>G)
6g.31816997T>GCA363416226HSPA1A,HSPA1Lc.1241T>G (p.Ile414Ser)
c.746T>G (p.Ile249Ser)
c.-14+4016A>C (n.-14+4016A>C)
6g.31816998C>ACA449806180HSPA1A,HSPA1Lc.1242C>A (p.Ile414=)
c.747C>A (p.Ile249=)
c.-14+4015G>T (n.-14+4015G>T)
dbSNP gnomAD v2 gnomAD v4
6g.31816998C=CA1619307564HSPA1A,HSPA1Lc.1242C= (p.Ile414=)
c.747C= (p.Ile249=)
c.-14+4015G= (n.-14+4015G=)
6g.31816998C>GCA363416233HSPA1A,HSPA1Lc.1242C>G (p.Ile414Met)
c.747C>G (p.Ile249Met)
c.-14+4015G>C (n.-14+4015G>C)
COSMIC
6g.31816998C>TCA449806182HSPA1A,HSPA1Lc.1242C>T (p.Ile414=)
c.747C>T (p.Ile249=)
c.-14+4015G>A (n.-14+4015G>A)
6g.31816999A>CCA363416240HSPA1A,HSPA1Lc.1243A>C (p.Lys415Gln)
c.748A>C (p.Lys250Gln)
c.-14+4014T>G (n.-14+4014T>G)
6g.31816999A>GCA363416241HSPA1A,HSPA1Lc.1243A>G (p.Lys415Glu)
c.748A>G (p.Lys250Glu)
c.-14+4014T>C (n.-14+4014T>C)
6g.31816999A>TCA363416244HSPA1A,HSPA1Lc.1243A>T (p.Lys415Ter)
c.748A>T (p.Lys250Ter)
c.-14+4014T>A (n.-14+4014T>A)
6g.31817000A>CCA363416247HSPA1A,HSPA1Lc.1244A>C (p.Lys415Thr)
c.749A>C (p.Lys250Thr)
c.-14+4013T>G (n.-14+4013T>G)
6g.31817000A>GCA363416248HSPA1A,HSPA1Lc.1244A>G (p.Lys415Arg)
c.749A>G (p.Lys250Arg)
c.-14+4013T>C (n.-14+4013T>C)
6g.31817000A>TCA363416249HSPA1A,HSPA1Lc.1244A>T (p.Lys415Met)
c.749A>T (p.Lys250Met)
c.-14+4013T>A (n.-14+4013T>A)
6g.31817001G>ACA449806184HSPA1A,HSPA1Lc.1245G>A (p.Lys415=)
c.750G>A (p.Lys250=)
c.-14+4012C>T (n.-14+4012C>T)
gnomAD v4
6g.31817001G>CCA363416251HSPA1A,HSPA1Lc.1245G>C (p.Lys415Asn)
c.750G>C (p.Lys250Asn)
c.-14+4012C>G (n.-14+4012C>G)
6g.31817001G>TCA363416255HSPA1A,HSPA1Lc.1245G>T (p.Lys415Asn)
c.750G>T (p.Lys250Asn)
c.-14+4012C>A (n.-14+4012C>A)
6g.31817002C>ACA363416261HSPA1A,HSPA1Lc.1246C>A (p.Arg416Ser)
c.751C>A (p.Arg251Ser)
c.-14+4011G>T (n.-14+4011G>T)
6g.31817002C>GCA363416274HSPA1A,HSPA1Lc.1246C>G (p.Arg416Gly)
c.751C>G (p.Arg251Gly)
c.-14+4011G>C (n.-14+4011G>C)
6g.31817002C>TCA363416267HSPA1A,HSPA1Lc.1246C>T (p.Arg416Cys)
c.751C>T (p.Arg251Cys)
c.-14+4011G>A (n.-14+4011G>A)
gnomAD v4
6g.31817003G>ACA363416284HSPA1A,HSPA1Lc.1247G>A (p.Arg416His)
c.752G>A (p.Arg251His)
c.-14+4010C>T (n.-14+4010C>T)
6g.31817003G>CCA363416286HSPA1A,HSPA1Lc.1247G>C (p.Arg416Pro)
c.752G>C (p.Arg251Pro)
c.-14+4010C>G (n.-14+4010C>G)
6g.31817003G>TCA363416288HSPA1A,HSPA1Lc.1247G>T (p.Arg416Leu)
c.752G>T (p.Arg251Leu)
c.-14+4010C>A (n.-14+4010C>A)
6g.31817004C>ACA449806193HSPA1A,HSPA1Lc.1248C>A (p.Arg416=)
c.753C>A (p.Arg251=)
c.-14+4009G>T (n.-14+4009G>T)
6g.31817004C>GCA449806195HSPA1A,HSPA1Lc.1248C>G (p.Arg416=)
c.753C>G (p.Arg251=)
c.-14+4009G>C (n.-14+4009G>C)
6g.31817004C>TCA449806194HSPA1A,HSPA1Lc.1248C>T (p.Arg416=)
c.753C>T (p.Arg251=)
c.-14+4009G>A (n.-14+4009G>A)
6g.31817005A>CCA363416294HSPA1A,HSPA1Lc.1249A>C (p.Asn417His)
c.754A>C (p.Asn252His)
c.-14+4008T>G (n.-14+4008T>G)
6g.31817005A>GCA363416308HSPA1A,HSPA1Lc.1249A>G (p.Asn417Asp)
c.754A>G (p.Asn252Asp)
c.-14+4008T>C (n.-14+4008T>C)
6g.31817005A>TCA363416319HSPA1A,HSPA1Lc.1249A>T (p.Asn417Tyr)
c.754A>T (p.Asn252Tyr)
c.-14+4008T>A (n.-14+4008T>A)
6g.31817006A>CCA363416326HSPA1A,HSPA1Lc.1250A>C (p.Asn417Thr)
c.755A>C (p.Asn252Thr)
c.-14+4007T>G (n.-14+4007T>G)
6g.31817006A>GCA363416328HSPA1A,HSPA1Lc.1250A>G (p.Asn417Ser)
c.755A>G (p.Asn252Ser)
c.-14+4007T>C (n.-14+4007T>C)
6g.31817006A>TCA363416330HSPA1A,HSPA1Lc.1250A>T (p.Asn417Ile)
c.755A>T (p.Asn252Ile)
c.-14+4007T>A (n.-14+4007T>A)
6g.31817007C>ACA363416334HSPA1A,HSPA1Lc.1251C>A (p.Asn417Lys)
c.756C>A (p.Asn252Lys)
c.-14+4006G>T (n.-14+4006G>T)
6g.31817007C>GCA363416337HSPA1A,HSPA1Lc.1251C>G (p.Asn417Lys)
c.756C>G (p.Asn252Lys)
c.-14+4006G>C (n.-14+4006G>C)
6g.31817007C>TCA449806199HSPA1A,HSPA1Lc.1251C>T (p.Asn417=)
c.756C>T (p.Asn252=)
c.-14+4006G>A (n.-14+4006G>A)
6g.31817008T>ACA363416350HSPA1A,HSPA1Lc.1252T>A (p.Ser418Thr)
c.757T>A (p.Ser253Thr)
c.-14+4005A>T (n.-14+4005A>T)
6g.31817008T>CCA363416345HSPA1A,HSPA1Lc.1252T>C (p.Ser418Pro)
c.757T>C (p.Ser253Pro)
c.-14+4005A>G (n.-14+4005A>G)
6g.31817008T>GCA363416342HSPA1A,HSPA1Lc.1252T>G (p.Ser418Ala)
c.757T>G (p.Ser253Ala)
c.-14+4005A>C (n.-14+4005A>C)
6g.31817009C>ACA363416356HSPA1A,HSPA1Lc.1253C>A (p.Ser418Tyr)
c.758C>A (p.Ser253Tyr)
c.-14+4004G>T (n.-14+4004G>T)
6g.31817009C>GCA363416362HSPA1A,HSPA1Lc.1253C>G (p.Ser418Cys)
c.758C>G (p.Ser253Cys)
c.-14+4004G>C (n.-14+4004G>C)
6g.31817009C>TCA363416363HSPA1A,HSPA1Lc.1253C>T (p.Ser418Phe)
c.758C>T (p.Ser253Phe)
c.-14+4004G>A (n.-14+4004G>A)
6g.31817010dupCA2578570475HSPA1A,HSPA1Lc.1254dup (p.Thr419HisfsTer?)
c.759dup (p.Thr254HisfsTer?)
c.-14+4004dup (n.-14+4004dup)
6g.31817010C>ACA449806204HSPA1A,HSPA1Lc.1254C>A (p.Ser418=)
c.759C>A (p.Ser253=)
c.-14+4003G>T (n.-14+4003G>T)
6g.31817010C>GCA449806205HSPA1A,HSPA1Lc.1254C>G (p.Ser418=)
c.759C>G (p.Ser253=)
c.-14+4003G>C (n.-14+4003G>C)
6g.31817010C>TCA449806207HSPA1A,HSPA1Lc.1254C>T (p.Ser418=)
c.759C>T (p.Ser253=)
c.-14+4003G>A (n.-14+4003G>A)
6g.31817011A>CCA363416365HSPA1A,HSPA1Lc.1255A>C (p.Thr419Pro)
c.760A>C (p.Thr254Pro)
c.-14+4002T>G (n.-14+4002T>G)
6g.31817011A>GCA363416368HSPA1A,HSPA1Lc.1255A>G (p.Thr419Ala)
c.760A>G (p.Thr254Ala)
c.-14+4002T>C (n.-14+4002T>C)
6g.31817011A>TCA363416374HSPA1A,HSPA1Lc.1255A>T (p.Thr419Ser)
c.760A>T (p.Thr254Ser)
c.-14+4002T>A (n.-14+4002T>A)
6g.31817012C>ACA363416382HSPA1A,HSPA1Lc.1256C>A (p.Thr419Asn)
c.761C>A (p.Thr254Asn)
c.-14+4001G>T (n.-14+4001G>T)
6g.31817012C>GCA363416386HSPA1A,HSPA1Lc.1256C>G (p.Thr419Ser)
c.761C>G (p.Thr254Ser)
c.-14+4001G>C (n.-14+4001G>C)
6g.31817012C>TCA363416392HSPA1A,HSPA1Lc.1256C>T (p.Thr419Ile)
c.761C>T (p.Thr254Ile)
c.-14+4001G>A (n.-14+4001G>A)
6g.31817013C>ACA449806215HSPA1A,HSPA1Lc.1257C>A (p.Thr419=)
c.762C>A (p.Thr254=)
c.-14+4000G>T (n.-14+4000G>T)
6g.31817013C>GCA449806217HSPA1A,HSPA1Lc.1257C>G (p.Thr419=)
c.762C>G (p.Thr254=)
c.-14+4000G>C (n.-14+4000G>C)
6g.31817013C>TCA449806218HSPA1A,HSPA1Lc.1257C>T (p.Thr419=)
c.762C>T (p.Thr254=)
c.-14+4000G>A (n.-14+4000G>A)
gnomAD v4
6g.31817014A>CCA363416405HSPA1A,HSPA1Lc.1258A>C (p.Ile420Leu)
c.763A>C (p.Ile255Leu)
c.-14+3999T>G (n.-14+3999T>G)
6g.31817014A>GCA363416409HSPA1A,HSPA1Lc.1258A>G (p.Ile420Val)
c.763A>G (p.Ile255Val)
c.-14+3999T>C (n.-14+3999T>C)
6g.31817014A>TCA363416410HSPA1A,HSPA1Lc.1258A>T (p.Ile420Phe)
c.763A>T (p.Ile255Phe)
c.-14+3999T>A (n.-14+3999T>A)
6g.31817015T>ACA363416412HSPA1A,HSPA1Lc.1259T>A (p.Ile420Asn)
c.764T>A (p.Ile255Asn)
c.-14+3998A>T (n.-14+3998A>T)
6g.31817015T>CCA363416414HSPA1A,HSPA1Lc.1259T>C (p.Ile420Thr)
c.764T>C (p.Ile255Thr)
c.-14+3998A>G (n.-14+3998A>G)
6g.31817015T>GCA363416411HSPA1A,HSPA1Lc.1259T>G (p.Ile420Ser)
c.764T>G (p.Ile255Ser)
c.-14+3998A>C (n.-14+3998A>C)
6g.31817016C>ACA449806222HSPA1A,HSPA1Lc.1260C>A (p.Ile420=)
c.765C>A (p.Ile255=)
c.-14+3997G>T (n.-14+3997G>T)
6g.31817016C>GCA363416421HSPA1A,HSPA1Lc.1260C>G (p.Ile420Met)
c.765C>G (p.Ile255Met)
c.-14+3997G>C (n.-14+3997G>C)
6g.31817016C>TCA449806223HSPA1A,HSPA1Lc.1260C>T (p.Ile420=)
c.765C>T (p.Ile255=)
c.-14+3997G>A (n.-14+3997G>A)
6g.31817017C>ACA363416423HSPA1A,HSPA1Lc.1261C>A (p.Pro421Thr)
c.766C>A (p.Pro256Thr)
c.-14+3996G>T (n.-14+3996G>T)
6g.31817017C>GCA363416424HSPA1A,HSPA1Lc.1261C>G (p.Pro421Ala)
c.766C>G (p.Pro256Ala)
c.-14+3996G>C (n.-14+3996G>C)
6g.31817017C>TCA363416425HSPA1A,HSPA1Lc.1261C>T (p.Pro421Ser)
c.766C>T (p.Pro256Ser)
c.-14+3996G>A (n.-14+3996G>A)
6g.31817018C>ACA363416429HSPA1A,HSPA1Lc.1262C>A (p.Pro421His)
c.767C>A (p.Pro256His)
c.-14+3995G>T (n.-14+3995G>T)
gnomAD v4
6g.31817018C>GCA363416432HSPA1A,HSPA1Lc.1262C>G (p.Pro421Arg)
c.767C>G (p.Pro256Arg)
c.-14+3995G>C (n.-14+3995G>C)
6g.31817018C>TCA363416444HSPA1A,HSPA1Lc.1262C>T (p.Pro421Leu)
c.767C>T (p.Pro256Leu)
c.-14+3995G>A (n.-14+3995G>A)
gnomAD v4
6g.31817019C>ACA449806228HSPA1A,HSPA1Lc.1263C>A (p.Pro421=)
c.768C>A (p.Pro256=)
c.-14+3994G>T (n.-14+3994G>T)
6g.31817019C>GCA449806229HSPA1A,HSPA1Lc.1263C>G (p.Pro421=)
c.768C>G (p.Pro256=)
c.-14+3994G>C (n.-14+3994G>C)
6g.31817019C>TCA449806230HSPA1A,HSPA1Lc.1263C>T (p.Pro421=)
c.768C>T (p.Pro256=)
c.-14+3994G>A (n.-14+3994G>A)
6g.31817020A>CCA363416454HSPA1A,HSPA1Lc.1264A>C (p.Thr422Pro)
c.769A>C (p.Thr257Pro)
c.-14+3993T>G (n.-14+3993T>G)
6g.31817020A>GCA363416461HSPA1A,HSPA1Lc.1264A>G (p.Thr422Ala)
c.769A>G (p.Thr257Ala)
c.-14+3993T>C (n.-14+3993T>C)
6g.31817020A>TCA363416465HSPA1A,HSPA1Lc.1264A>T (p.Thr422Ser)
c.769A>T (p.Thr257Ser)
c.-14+3993T>A (n.-14+3993T>A)
6g.31817021C>ACA363416472HSPA1A,HSPA1Lc.1265C>A (p.Thr422Asn)
c.770C>A (p.Thr257Asn)
c.-14+3992G>T (n.-14+3992G>T)
6g.31817021C>GCA363416475HSPA1A,HSPA1Lc.1265C>G (p.Thr422Ser)
c.770C>G (p.Thr257Ser)
c.-14+3992G>C (n.-14+3992G>C)
6g.31817021C>TCA363416489HSPA1A,HSPA1Lc.1265C>T (p.Thr422Ile)
c.770C>T (p.Thr257Ile)
c.-14+3992G>A (n.-14+3992G>A)
6g.31817022C>ACA449806236HSPA1A,HSPA1Lc.1266C>A (p.Thr422=)
c.771C>A (p.Thr257=)
c.-14+3991G>T (n.-14+3991G>T)
gnomAD v4
6g.31817022C>GCA449806237HSPA1A,HSPA1Lc.1266C>G (p.Thr422=)
c.771C>G (p.Thr257=)
c.-14+3991G>C (n.-14+3991G>C)
6g.31817022C>TCA449806238HSPA1A,HSPA1Lc.1266C>T (p.Thr422=)
c.771C>T (p.Thr257=)
c.-14+3991G>A (n.-14+3991G>A)
6g.31817023A>CCA363416509HSPA1A,HSPA1Lc.1267A>C (p.Lys423Gln)
c.772A>C (p.Lys258Gln)
c.-14+3990T>G (n.-14+3990T>G)
6g.31817023A>GCA363416505HSPA1A,HSPA1Lc.1267A>G (p.Lys423Glu)
c.772A>G (p.Lys258Glu)
c.-14+3990T>C (n.-14+3990T>C)
gnomAD v4
6g.31817023A>TCA363416496HSPA1A,HSPA1Lc.1267A>T (p.Lys423Ter)
c.772A>T (p.Lys258Ter)
c.-14+3990T>A (n.-14+3990T>A)
6g.31817024A>CCA363416512HSPA1A,HSPA1Lc.1268A>C (p.Lys423Thr)
c.773A>C (p.Lys258Thr)
c.-14+3989T>G (n.-14+3989T>G)
6g.31817024A>GCA363416515HSPA1A,HSPA1Lc.1268A>G (p.Lys423Arg)
c.773A>G (p.Lys258Arg)
c.-14+3989T>C (n.-14+3989T>C)
6g.31817024A>TCA363416519HSPA1A,HSPA1Lc.1268A>T (p.Lys423Met)
c.773A>T (p.Lys258Met)
c.-14+3989T>A (n.-14+3989T>A)
6g.31817025G>ACA449806247HSPA1A,HSPA1Lc.1269G>A (p.Lys423=)
c.774G>A (p.Lys258=)
c.-14+3988C>T (n.-14+3988C>T)
6g.31817025G>CCA363416526HSPA1A,HSPA1Lc.1269G>C (p.Lys423Asn)
c.774G>C (p.Lys258Asn)
c.-14+3988C>G (n.-14+3988C>G)
6g.31817025G>TCA363416531HSPA1A,HSPA1Lc.1269G>T (p.Lys423Asn)
c.774G>T (p.Lys258Asn)
c.-14+3988C>A (n.-14+3988C>A)
6g.31817026C>ACA363416538HSPA1A,HSPA1Lc.1270C>A (p.Gln424Lys)
c.775C>A (p.Gln259Lys)
c.-14+3987G>T (n.-14+3987G>T)
6g.31817026C>GCA363416539HSPA1A,HSPA1Lc.1270C>G (p.Gln424Glu)
c.775C>G (p.Gln259Glu)
c.-14+3987G>C (n.-14+3987G>C)
6g.31817026C>TCA363416540HSPA1A,HSPA1Lc.1270C>T (p.Gln424Ter)
c.775C>T (p.Gln259Ter)
c.-14+3987G>A (n.-14+3987G>A)
6g.31817027A>CCA363416542HSPA1A,HSPA1Lc.1271A>C (p.Gln424Pro)
c.776A>C (p.Gln259Pro)
c.-14+3986T>G (n.-14+3986T>G)
6g.31817027A>GCA363416545HSPA1A,HSPA1Lc.1271A>G (p.Gln424Arg)
c.776A>G (p.Gln259Arg)
c.-14+3986T>C (n.-14+3986T>C)
6g.31817027A>TCA363416553HSPA1A,HSPA1Lc.1271A>T (p.Gln424Leu)
c.776A>T (p.Gln259Leu)
c.-14+3986T>A (n.-14+3986T>A)
6g.31817028G>ACA449806256HSPA1A,HSPA1Lc.1272G>A (p.Gln424=)
c.777G>A (p.Gln259=)
c.-14+3985C>T (n.-14+3985C>T)
6g.31817028G>CCA363416565HSPA1A,HSPA1Lc.1272G>C (p.Gln424His)
c.777G>C (p.Gln259His)
c.-14+3985C>G (n.-14+3985C>G)
6g.31817028G>TCA363416582HSPA1A,HSPA1Lc.1272G>T (p.Gln424His)
c.777G>T (p.Gln259His)
c.-14+3985C>A (n.-14+3985C>A)
6g.31817029A>CCA363416587HSPA1A,HSPA1Lc.1273A>C (p.Thr425Pro)
c.778A>C (p.Thr260Pro)
c.-14+3984T>G (n.-14+3984T>G)
6g.31817029A>GCA363416598HSPA1A,HSPA1Lc.1273A>G (p.Thr425Ala)
c.778A>G (p.Thr260Ala)
c.-14+3984T>C (n.-14+3984T>C)
6g.31817029A>TCA363416593HSPA1A,HSPA1Lc.1273A>T (p.Thr425Ser)
c.778A>T (p.Thr260Ser)
c.-14+3984T>A (n.-14+3984T>A)
6g.31817030C>ACA363416599HSPA1A,HSPA1Lc.1274C>A (p.Thr425Lys)
c.779C>A (p.Thr260Lys)
c.-14+3983G>T (n.-14+3983G>T)
6g.31817030C>GCA363416604HSPA1A,HSPA1Lc.1274C>G (p.Thr425Arg)
c.779C>G (p.Thr260Arg)
c.-14+3983G>C (n.-14+3983G>C)
6g.31817030C>TCA363416602HSPA1A,HSPA1Lc.1274C>T (p.Thr425Met)
c.779C>T (p.Thr260Met)
c.-14+3983G>A (n.-14+3983G>A)
gnomAD v4
6g.31817031G>ACA449806264HSPA1A,HSPA1Lc.1275G>A (p.Thr425=)
c.780G>A (p.Thr260=)
c.-14+3982C>T (n.-14+3982C>T)
gnomAD v4
6g.31817031G>CCA449806265HSPA1A,HSPA1Lc.1275G>C (p.Thr425=)
c.780G>C (p.Thr260=)
c.-14+3982C>G (n.-14+3982C>G)
gnomAD v4
6g.31817031G>TCA449806266HSPA1A,HSPA1Lc.1275G>T (p.Thr425=)
c.780G>T (p.Thr260=)
c.-14+3982C>A (n.-14+3982C>A)
6g.31817032C>ACA363416609HSPA1A,HSPA1Lc.1276C>A (p.Gln426Lys)
c.781C>A (p.Gln261Lys)
c.-14+3981G>T (n.-14+3981G>T)
6g.31817032C=CA1619307565HSPA1A,HSPA1Lc.1276C= (p.Gln426=)
c.781C= (p.Gln261=)
c.-14+3981G= (n.-14+3981G=)
6g.31817032C>GCA363416638HSPA1A,HSPA1Lc.1276C>G (p.Gln426Glu)
c.781C>G (p.Gln261Glu)
c.-14+3981G>C (n.-14+3981G>C)
6g.31817032C>TCA363416629HSPA1A,HSPA1Lc.1276C>T (p.Gln426Ter)
c.781C>T (p.Gln261Ter)
c.-14+3981G>A (n.-14+3981G>A)
dbSNP gnomAD v2 gnomAD v4
6g.31817033A>CCA363416639HSPA1A,HSPA1Lc.1277A>C (p.Gln426Pro)
c.782A>C (p.Gln261Pro)
c.-14+3980T>G (n.-14+3980T>G)
6g.31817033A>GCA363416640HSPA1A,HSPA1Lc.1277A>G (p.Gln426Arg)
c.782A>G (p.Gln261Arg)
c.-14+3980T>C (n.-14+3980T>C)
6g.31817033A>TCA363416642HSPA1A,HSPA1Lc.1277A>T (p.Gln426Leu)
c.782A>T (p.Gln261Leu)
c.-14+3980T>A (n.-14+3980T>A)
6g.31817034G>ACA449806271HSPA1A,HSPA1Lc.1278G>A (p.Gln426=)
c.783G>A (p.Gln261=)
c.-14+3979C>T (n.-14+3979C>T)
gnomAD v4
6g.31817034G>CCA363416657HSPA1A,HSPA1Lc.1278G>C (p.Gln426His)
c.783G>C (p.Gln261His)
c.-14+3979C>G (n.-14+3979C>G)
gnomAD v4
6g.31817034G>TCA363416663HSPA1A,HSPA1Lc.1278G>T (p.Gln426His)
c.783G>T (p.Gln261His)
c.-14+3979C>A (n.-14+3979C>A)
6g.31817035A>CCA363416670HSPA1A,HSPA1Lc.1279A>C (p.Ile427Leu)
c.784A>C (p.Ile262Leu)
c.-14+3978T>G (n.-14+3978T>G)
6g.31817035A>GCA363416671HSPA1A,HSPA1Lc.1279A>G (p.Ile427Val)
c.784A>G (p.Ile262Val)
c.-14+3978T>C (n.-14+3978T>C)
gnomAD v4
6g.31817035A>TCA363416678HSPA1A,HSPA1Lc.1279A>T (p.Ile427Phe)
c.784A>T (p.Ile262Phe)
c.-14+3978T>A (n.-14+3978T>A)
6g.31817036T>ACA363416685HSPA1A,HSPA1Lc.1280T>A (p.Ile427Asn)
c.785T>A (p.Ile262Asn)
c.-14+3977A>T (n.-14+3977A>T)
6g.31817036T>CCA363416693HSPA1A,HSPA1Lc.1280T>C (p.Ile427Thr)
c.785T>C (p.Ile262Thr)
c.-14+3977A>G (n.-14+3977A>G)
6g.31817036T>GCA363416708HSPA1A,HSPA1Lc.1280T>G (p.Ile427Ser)
c.785T>G (p.Ile262Ser)
c.-14+3977A>C (n.-14+3977A>C)
6g.31817037C>ACA449806276HSPA1A,HSPA1Lc.1281C>A (p.Ile427=)
c.786C>A (p.Ile262=)
c.-14+3976G>T (n.-14+3976G>T)
6g.31817037C>GCA363416715HSPA1A,HSPA1Lc.1281C>G (p.Ile427Met)
c.786C>G (p.Ile262Met)
c.-14+3976G>C (n.-14+3976G>C)
6g.31817037C>TCA449806280HSPA1A,HSPA1Lc.1281C>T (p.Ile427=)
c.786C>T (p.Ile262=)
c.-14+3976G>A (n.-14+3976G>A)
6g.31817038T>ACA363416726HSPA1A,HSPA1Lc.1282T>A (p.Phe428Ile)
c.787T>A (p.Phe263Ile)
c.-14+3975A>T (n.-14+3975A>T)
6g.31817038T>CCA363416744HSPA1A,HSPA1Lc.1282T>C (p.Phe428Leu)
c.787T>C (p.Phe263Leu)
c.-14+3975A>G (n.-14+3975A>G)
6g.31817038T>GCA363416750HSPA1A,HSPA1Lc.1282T>G (p.Phe428Val)
c.787T>G (p.Phe263Val)
c.-14+3975A>C (n.-14+3975A>C)
6g.31817039T>ACA363416767HSPA1A,HSPA1Lc.1283T>A (p.Phe428Tyr)
c.788T>A (p.Phe263Tyr)
c.-14+3974A>T (n.-14+3974A>T)
6g.31817039T>CCA363416775HSPA1A,HSPA1Lc.1283T>C (p.Phe428Ser)
c.788T>C (p.Phe263Ser)
c.-14+3974A>G (n.-14+3974A>G)
6g.31817039T>GCA363416776HSPA1A,HSPA1Lc.1283T>G (p.Phe428Cys)
c.788T>G (p.Phe263Cys)
c.-14+3974A>C (n.-14+3974A>C)
6g.31817040C>ACA363416782HSPA1A,HSPA1Lc.1284C>A (p.Phe428Leu)
c.789C>A (p.Phe263Leu)
c.-14+3973G>T (n.-14+3973G>T)
6g.31817040C>GCA363416788HSPA1A,HSPA1Lc.1284C>G (p.Phe428Leu)
c.789C>G (p.Phe263Leu)
c.-14+3973G>C (n.-14+3973G>C)
6g.31817040C>TCA449806290HSPA1A,HSPA1Lc.1284C>T (p.Phe428=)
c.789C>T (p.Phe263=)
c.-14+3973G>A (n.-14+3973G>A)
6g.31817041A>CCA363416796HSPA1A,HSPA1Lc.1285A>C (p.Thr429Pro)
c.790A>C (p.Thr264Pro)
c.-14+3972T>G (n.-14+3972T>G)
6g.31817041A>GCA363416797HSPA1A,HSPA1Lc.1285A>G (p.Thr429Ala)
c.790A>G (p.Thr264Ala)
c.-14+3972T>C (n.-14+3972T>C)
gnomAD v4
6g.31817041A>TCA363416798HSPA1A,HSPA1Lc.1285A>T (p.Thr429Ser)
c.790A>T (p.Thr264Ser)
c.-14+3972T>A (n.-14+3972T>A)
6g.31817042C>ACA363416816HSPA1A,HSPA1Lc.1286C>A (p.Thr429Asn)
c.791C>A (p.Thr264Asn)
c.-14+3971G>T (n.-14+3971G>T)
6g.31817042C>GCA363416821HSPA1A,HSPA1Lc.1286C>G (p.Thr429Ser)
c.791C>G (p.Thr264Ser)
c.-14+3971G>C (n.-14+3971G>C)
6g.31817042C>TCA363416805HSPA1A,HSPA1Lc.1286C>T (p.Thr429Ile)
c.791C>T (p.Thr264Ile)
c.-14+3971G>A (n.-14+3971G>A)
gnomAD v4
6g.31817043C>ACA449806296HSPA1A,HSPA1Lc.1287C>A (p.Thr429=)
c.792C>A (p.Thr264=)
c.-14+3970G>T (n.-14+3970G>T)
6g.31817043C>GCA449806298HSPA1A,HSPA1Lc.1287C>G (p.Thr429=)
c.792C>G (p.Thr264=)
c.-14+3970G>C (n.-14+3970G>C)
6g.31817043C>TCA449806300HSPA1A,HSPA1Lc.1287C>T (p.Thr429=)
c.792C>T (p.Thr264=)
c.-14+3970G>A (n.-14+3970G>A)
6g.31817044A>CCA363416824HSPA1A,HSPA1Lc.1288A>C (p.Thr430Pro)
c.793A>C (p.Thr265Pro)
c.-14+3969T>G (n.-14+3969T>G)
6g.31817044A>GCA363416825HSPA1A,HSPA1Lc.1288A>G (p.Thr430Ala)
c.793A>G (p.Thr265Ala)
c.-14+3969T>C (n.-14+3969T>C)
6g.31817044A>TCA363416839HSPA1A,HSPA1Lc.1288A>T (p.Thr430Ser)
c.793A>T (p.Thr265Ser)
c.-14+3969T>A (n.-14+3969T>A)
6g.31817045C>ACA363416845HSPA1A,HSPA1Lc.1289C>A (p.Thr430Asn)
c.794C>A (p.Thr265Asn)
c.-14+3968G>T (n.-14+3968G>T)
6g.31817045C>GCA363416847HSPA1A,HSPA1Lc.1289C>G (p.Thr430Ser)
c.794C>G (p.Thr265Ser)
c.-14+3968G>C (n.-14+3968G>C)
6g.31817045C>TCA363416853HSPA1A,HSPA1Lc.1289C>T (p.Thr430Ile)
c.794C>T (p.Thr265Ile)
c.-14+3968G>A (n.-14+3968G>A)
6g.31817046C>ACA449806311HSPA1A,HSPA1Lc.1290C>A (p.Thr430=)
c.795C>A (p.Thr265=)
c.-14+3967G>T (n.-14+3967G>T)
6g.31817046C>GCA449806313HSPA1A,HSPA1Lc.1290C>G (p.Thr430=)
c.795C>G (p.Thr265=)
c.-14+3967G>C (n.-14+3967G>C)
6g.31817046C>TCA449806312HSPA1A,HSPA1Lc.1290C>T (p.Thr430=)
c.795C>T (p.Thr265=)
c.-14+3967G>A (n.-14+3967G>A)
6g.31817047T>ACA363416860HSPA1A,HSPA1Lc.1291T>A (p.Tyr431Asn)
c.796T>A (p.Tyr266Asn)
c.-14+3966A>T (n.-14+3966A>T)
6g.31817047T>CCA363416861HSPA1A,HSPA1Lc.1291T>C (p.Tyr431His)
c.796T>C (p.Tyr266His)
c.-14+3966A>G (n.-14+3966A>G)
6g.31817047T>GCA363416862HSPA1A,HSPA1Lc.1291T>G (p.Tyr431Asp)
c.796T>G (p.Tyr266Asp)
c.-14+3966A>C (n.-14+3966A>C)
6g.31817048A>CCA363416864HSPA1A,HSPA1Lc.1292A>C (p.Tyr431Ser)
c.797A>C (p.Tyr266Ser)
c.-14+3965T>G (n.-14+3965T>G)
6g.31817048A>GCA363416866HSPA1A,HSPA1Lc.1292A>G (p.Tyr431Cys)
c.797A>G (p.Tyr266Cys)
c.-14+3965T>C (n.-14+3965T>C)
6g.31817048A>TCA363416868HSPA1A,HSPA1Lc.1292A>T (p.Tyr431Phe)
c.797A>T (p.Tyr266Phe)
c.-14+3965T>A (n.-14+3965T>A)
6g.31817049C>ACA363416881HSPA1A,HSPA1Lc.1293C>A (p.Tyr431Ter)
c.798C>A (p.Tyr266Ter)
c.-14+3964G>T (n.-14+3964G>T)
gnomAD v4
6g.31817049C>GCA363416874HSPA1A,HSPA1Lc.1293C>G (p.Tyr431Ter)
c.798C>G (p.Tyr266Ter)
c.-14+3964G>C (n.-14+3964G>C)
6g.31817049C>TCA449806320HSPA1A,HSPA1Lc.1293C>T (p.Tyr431=)
c.798C>T (p.Tyr266=)
c.-14+3964G>A (n.-14+3964G>A)
6g.31817050T>ACA363416894HSPA1A,HSPA1Lc.1294T>A (p.Ser432Thr)
c.799T>A (p.Ser267Thr)
c.-14+3963A>T (n.-14+3963A>T)
6g.31817050T>CCA363416913HSPA1A,HSPA1Lc.1294T>C (p.Ser432Pro)
c.799T>C (p.Ser267Pro)
c.-14+3963A>G (n.-14+3963A>G)
6g.31817050T>GCA363416918HSPA1A,HSPA1Lc.1294T>G (p.Ser432Ala)
c.799T>G (p.Ser267Ala)
c.-14+3963A>C (n.-14+3963A>C)
6g.31817051C>ACA363416945HSPA1A,HSPA1Lc.1295C>A (p.Ser432Tyr)
c.800C>A (p.Ser267Tyr)
c.-14+3962G>T (n.-14+3962G>T)
6g.31817051C>GCA363416956HSPA1A,HSPA1Lc.1295C>G (p.Ser432Cys)
c.800C>G (p.Ser267Cys)
c.-14+3962G>C (n.-14+3962G>C)
6g.31817051C>TCA363416959HSPA1A,HSPA1Lc.1295C>T (p.Ser432Phe)
c.800C>T (p.Ser267Phe)
c.-14+3962G>A (n.-14+3962G>A)
6g.31817052dupCA2711458853HSPA1A,HSPA1Lc.1296dup (p.Asp433ArgfsTer?)
c.801dup (p.Asp268ArgfsTer?)
c.-14+3962dup (n.-14+3962dup)
dbSNP
6g.31817052C>ACA449806326HSPA1A,HSPA1Lc.1296C>A (p.Ser432=)
c.801C>A (p.Ser267=)
c.-14+3961G>T (n.-14+3961G>T)
6g.31817052C>GCA449806328HSPA1A,HSPA1Lc.1296C>G (p.Ser432=)
c.801C>G (p.Ser267=)
c.-14+3961G>C (n.-14+3961G>C)
6g.31817052C>TCA449806330HSPA1A,HSPA1Lc.1296C>T (p.Ser432=)
c.801C>T (p.Ser267=)
c.-14+3961G>A (n.-14+3961G>A)
gnomAD v4
6g.31817053G>ACA363416964HSPA1A,HSPA1Lc.1297G>A (p.Asp433Asn)
c.802G>A (p.Asp268Asn)
c.-14+3960C>T (n.-14+3960C>T)
dbSNP gnomAD v2 gnomAD v4
6g.31817053G>CCA363416981HSPA1A,HSPA1Lc.1297G>C (p.Asp433His)
c.802G>C (p.Asp268His)
c.-14+3960C>G (n.-14+3960C>G)
6g.31817053G=CA1619307566HSPA1A,HSPA1Lc.1297G= (p.Asp433=)
c.802G= (p.Asp268=)
c.-14+3960C= (n.-14+3960C=)
6g.31817053G>TCA363416986HSPA1A,HSPA1Lc.1297G>T (p.Asp433Tyr)
c.802G>T (p.Asp268Tyr)
c.-14+3960C>A (n.-14+3960C>A)
6g.31817054A>CCA363416996HSPA1A,HSPA1Lc.1298A>C (p.Asp433Ala)
c.803A>C (p.Asp268Ala)
c.-14+3959T>G (n.-14+3959T>G)
6g.31817054A>GCA363417002HSPA1A,HSPA1Lc.1298A>G (p.Asp433Gly)
c.803A>G (p.Asp268Gly)
c.-14+3959T>C (n.-14+3959T>C)
gnomAD v4
6g.31817054A>TCA363417012HSPA1A,HSPA1Lc.1298A>T (p.Asp433Val)
c.803A>T (p.Asp268Val)
c.-14+3959T>A (n.-14+3959T>A)
6g.31817055C>ACA363417018HSPA1A,HSPA1Lc.1299C>A (p.Asp433Glu)
c.804C>A (p.Asp268Glu)
c.-14+3958G>T (n.-14+3958G>T)
6g.31817055C>GCA363417019HSPA1A,HSPA1Lc.1299C>G (p.Asp433Glu)
c.804C>G (p.Asp268Glu)
c.-14+3958G>C (n.-14+3958G>C)
6g.31817055C>TCA449806333HSPA1A,HSPA1Lc.1299C>T (p.Asp433=)
c.804C>T (p.Asp268=)
c.-14+3958G>A (n.-14+3958G>A)
6g.31817056A>CCA363417022HSPA1A,HSPA1Lc.1300A>C (p.Asn434His)
c.805A>C (p.Asn269His)
c.-14+3957T>G (n.-14+3957T>G)
6g.31817056A>GCA363417030HSPA1A,HSPA1Lc.1300A>G (p.Asn434Asp)
c.805A>G (p.Asn269Asp)
c.-14+3957T>C (n.-14+3957T>C)
6g.31817056A>TCA363417021HSPA1A,HSPA1Lc.1300A>T (p.Asn434Tyr)
c.805A>T (p.Asn269Tyr)
c.-14+3957T>A (n.-14+3957T>A)
6g.31817057A=CA1619307567HSPA1A,HSPA1Lc.1301A= (p.Asn434=)
c.806A= (p.Asn269=)
c.-14+3956T= (n.-14+3956T=)
6g.31817057A>CCA363417038HSPA1A,HSPA1Lc.1301A>C (p.Asn434Thr)
c.806A>C (p.Asn269Thr)
c.-14+3956T>G (n.-14+3956T>G)
6g.31817057A>GCA363417033HSPA1A,HSPA1Lc.1301A>G (p.Asn434Ser)
c.806A>G (p.Asn269Ser)
c.-14+3956T>C (n.-14+3956T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31817057A>TCA363417035HSPA1A,HSPA1Lc.1301A>T (p.Asn434Ile)
c.806A>T (p.Asn269Ile)
c.-14+3956T>A (n.-14+3956T>A)
6g.31817058C>ACA363417042HSPA1A,HSPA1Lc.1302C>A (p.Asn434Lys)
c.807C>A (p.Asn269Lys)
c.-14+3955G>T (n.-14+3955G>T)
6g.31817058C>GCA363417048HSPA1A,HSPA1Lc.1302C>G (p.Asn434Lys)
c.807C>G (p.Asn269Lys)
c.-14+3955G>C (n.-14+3955G>C)
gnomAD v4
6g.31817058C>TCA449806339HSPA1A,HSPA1Lc.1302C>T (p.Asn434=)
c.807C>T (p.Asn269=)
c.-14+3955G>A (n.-14+3955G>A)
6g.31817059dupCA823903352HSPA1A,HSPA1Lc.1303dup (p.Gln435ProfsTer?)
c.808dup (p.Gln270ProfsTer?)
c.-14+3955dup (n.-14+3955dup)
dbSNP
6g.31817059C>ACA363417061HSPA1A,HSPA1Lc.1303C>A (p.Gln435Lys)
c.808C>A (p.Gln270Lys)
c.-14+3954G>T (n.-14+3954G>T)
6g.31817059C=CA1619307568HSPA1A,HSPA1Lc.1303C= (p.Gln435=)
c.808C= (p.Gln270=)
c.-14+3954G= (n.-14+3954G=)
6g.31817059C>GCA363417069HSPA1A,HSPA1Lc.1303C>G (p.Gln435Glu)
c.808C>G (p.Gln270Glu)
c.-14+3954G>C (n.-14+3954G>C)
6g.31817059C>TCA363417080HSPA1A,HSPA1Lc.1303C>T (p.Gln435Ter)
c.808C>T (p.Gln270Ter)
c.-14+3954G>A (n.-14+3954G>A)
dbSNP gnomAD v3 gnomAD v4
6g.31817060A>CCA363417091HSPA1A,HSPA1Lc.1304A>C (p.Gln435Pro)
c.809A>C (p.Gln270Pro)
c.-14+3953T>G (n.-14+3953T>G)
6g.31817060A>GCA363417097HSPA1A,HSPA1Lc.1304A>G (p.Gln435Arg)
c.809A>G (p.Gln270Arg)
c.-14+3953T>C (n.-14+3953T>C)
6g.31817060A>TCA363417101HSPA1A,HSPA1Lc.1304A>T (p.Gln435Leu)
c.809A>T (p.Gln270Leu)
c.-14+3953T>A (n.-14+3953T>A)
6g.31817061A>CCA363417102HSPA1A,HSPA1Lc.1305A>C (p.Gln435His)
c.810A>C (p.Gln270His)
c.-14+3952T>G (n.-14+3952T>G)
6g.31817061A>GCA449806341HSPA1A,HSPA1Lc.1305A>G (p.Gln435=)
c.810A>G (p.Gln270=)
c.-14+3952T>C (n.-14+3952T>C)
gnomAD v4
6g.31817061A>TCA363417103HSPA1A,HSPA1Lc.1305A>T (p.Gln435His)
c.810A>T (p.Gln270His)
c.-14+3952T>A (n.-14+3952T>A)
6g.31817062C>ACA363417125HSPA1A,HSPA1Lc.1306C>A (p.Pro436Thr)
c.811C>A (p.Pro271Thr)
c.-14+3951G>T (n.-14+3951G>T)
6g.31817062C=CA1619307569HSPA1A,HSPA1Lc.1306C= (p.Pro436=)
c.811C= (p.Pro271=)
c.-14+3951G= (n.-14+3951G=)
6g.31817062C>GCA363417105HSPA1A,HSPA1Lc.1306C>G (p.Pro436Ala)
c.811C>G (p.Pro271Ala)
c.-14+3951G>C (n.-14+3951G>C)
dbSNP gnomAD v2 gnomAD v4
6g.31817062C>TCA363417119HSPA1A,HSPA1Lc.1306C>T (p.Pro436Ser)
c.811C>T (p.Pro271Ser)
c.-14+3951G>A (n.-14+3951G>A)
6g.31817064delCA2678045104HSPA1A,HSPA1Lc.1308del (p.Val438CysfsTer2)
c.813del (p.Val273CysfsTer2)
c.-14+3951del (n.-14+3951del)
gnomAD v4
6g.31817063C>ACA363417128HSPA1A,HSPA1Lc.1307C>A (p.Pro436His)
c.812C>A (p.Pro271His)
c.-14+3950G>T (n.-14+3950G>T)
6g.31817063C>GCA363417130HSPA1A,HSPA1Lc.1307C>G (p.Pro436Arg)
c.812C>G (p.Pro271Arg)
c.-14+3950G>C (n.-14+3950G>C)
6g.31817063C>TCA363417132HSPA1A,HSPA1Lc.1307C>T (p.Pro436Leu)
c.812C>T (p.Pro271Leu)
c.-14+3950G>A (n.-14+3950G>A)
6g.31817064C>ACA449806347HSPA1A,HSPA1Lc.1308C>A (p.Pro436=)
c.813C>A (p.Pro271=)
c.-14+3949G>T (n.-14+3949G>T)
6g.31817064C>GCA449806350HSPA1A,HSPA1Lc.1308C>G (p.Pro436=)
c.813C>G (p.Pro271=)
c.-14+3949G>C (n.-14+3949G>C)
6g.31817064C>TCA449806349HSPA1A,HSPA1Lc.1308C>T (p.Pro436=)
c.813C>T (p.Pro271=)
c.-14+3949G>A (n.-14+3949G>A)
6g.31817065G>ACA363417135HSPA1A,HSPA1Lc.1309G>A (p.Gly437Arg)
c.814G>A (p.Gly272Arg)
c.-14+3948C>T (n.-14+3948C>T)
gnomAD v4
6g.31817065G>CCA363417138HSPA1A,HSPA1Lc.1309G>C (p.Gly437Arg)
c.814G>C (p.Gly272Arg)
c.-14+3948C>G (n.-14+3948C>G)
6g.31817065G>TCA363417143HSPA1A,HSPA1Lc.1309G>T (p.Gly437Trp)
c.814G>T (p.Gly272Trp)
c.-14+3948C>A (n.-14+3948C>A)
6g.31817066G>ACA363417146HSPA1A,HSPA1Lc.1310G>A (p.Gly437Glu)
c.815G>A (p.Gly272Glu)
c.-14+3947C>T (n.-14+3947C>T)
dbSNP gnomAD v4
6g.31817066G>CCA363417150HSPA1A,HSPA1Lc.1310G>C (p.Gly437Ala)
c.815G>C (p.Gly272Ala)
c.-14+3947C>G (n.-14+3947C>G)
6g.31817066G=CA1619307570HSPA1A,HSPA1Lc.1310G= (p.Gly437=)
c.815G= (p.Gly272=)
c.-14+3947C= (n.-14+3947C=)
6g.31817066G>TCA363417155HSPA1A,HSPA1Lc.1310G>T (p.Gly437Val)
c.815G>T (p.Gly272Val)
c.-14+3947C>A (n.-14+3947C>A)
6g.31817067G>ACA449806353HSPA1A,HSPA1Lc.1311G>A (p.Gly437=)
c.816G>A (p.Gly272=)
c.-14+3946C>T (n.-14+3946C>T)
6g.31817067G>CCA449806354HSPA1A,HSPA1Lc.1311G>C (p.Gly437=)
c.816G>C (p.Gly272=)
c.-14+3946C>G (n.-14+3946C>G)
6g.31817067G>TCA449806355HSPA1A,HSPA1Lc.1311G>T (p.Gly437=)
c.816G>T (p.Gly272=)
c.-14+3946C>A (n.-14+3946C>A)
6g.31817068G>ACA363417159HSPA1A,HSPA1Lc.1312G>A (p.Val438Met)
c.817G>A (p.Val273Met)
c.-14+3945C>T (n.-14+3945C>T)
6g.31817068G>CCA363417160HSPA1A,HSPA1Lc.1312G>C (p.Val438Leu)
c.817G>C (p.Val273Leu)
c.-14+3945C>G (n.-14+3945C>G)
6g.31817068G>TCA363417161HSPA1A,HSPA1Lc.1312G>T (p.Val438Leu)
c.817G>T (p.Val273Leu)
c.-14+3945C>A (n.-14+3945C>A)
6g.31817069T>ACA363417183HSPA1A,HSPA1Lc.1313T>A (p.Val438Glu)
c.818T>A (p.Val273Glu)
c.-14+3944A>T (n.-14+3944A>T)
6g.31817069T>CCA363417187HSPA1A,HSPA1Lc.1313T>C (p.Val438Ala)
c.818T>C (p.Val273Ala)
c.-14+3944A>G (n.-14+3944A>G)
6g.31817069T>GCA363417171HSPA1A,HSPA1Lc.1313T>G (p.Val438Gly)
c.818T>G (p.Val273Gly)
c.-14+3944A>C (n.-14+3944A>C)
6g.31817070G>ACA449806359HSPA1A,HSPA1Lc.1314G>A (p.Val438=)
c.819G>A (p.Val273=)
c.-14+3943C>T (n.-14+3943C>T)
6g.31817070G>CCA449806360HSPA1A,HSPA1Lc.1314G>C (p.Val438=)
c.819G>C (p.Val273=)
c.-14+3943C>G (n.-14+3943C>G)
6g.31817070G>TCA449806361HSPA1A,HSPA1Lc.1314G>T (p.Val438=)
c.819G>T (p.Val273=)
c.-14+3943C>A (n.-14+3943C>A)
6g.31817071delCA2578570476HSPA1A,HSPA1Lc.1315del (p.Leu439Ter)
c.820del (p.Leu274Ter)
c.-14+3942del (n.-14+3942del)
6g.31817071C>ACA363417193HSPA1A,HSPA1Lc.1315C>A (p.Leu439Met)
c.820C>A (p.Leu274Met)
c.-14+3942G>T (n.-14+3942G>T)
6g.31817071C=CA1619307571HSPA1A,HSPA1Lc.1315C= (p.Leu439=)
c.820C= (p.Leu274=)
c.-14+3942G= (n.-14+3942G=)
6g.31817071C>GCA363417196HSPA1A,HSPA1Lc.1315C>G (p.Leu439Val)
c.820C>G (p.Leu274Val)
c.-14+3942G>C (n.-14+3942G>C)
6g.31817071C>TCA449806362HSPA1A,HSPA1Lc.1315C>T (p.Leu439=)
c.820C>T (p.Leu274=)
c.-14+3942G>A (n.-14+3942G>A)
dbSNP gnomAD v3 gnomAD v4
6g.31817072T>ACA363417198HSPA1A,HSPA1Lc.1316T>A (p.Leu439Gln)
c.821T>A (p.Leu274Gln)
c.-14+3941A>T (n.-14+3941A>T)
6g.31817072T>CCA363417209HSPA1A,HSPA1Lc.1316T>C (p.Leu439Pro)
c.821T>C (p.Leu274Pro)
c.-14+3941A>G (n.-14+3941A>G)
6g.31817072T>GCA363417220HSPA1A,HSPA1Lc.1316T>G (p.Leu439Arg)
c.821T>G (p.Leu274Arg)
c.-14+3941A>C (n.-14+3941A>C)
6g.31817073G>ACA449806364HSPA1A,HSPA1Lc.1317G>A (p.Leu439=)
c.822G>A (p.Leu274=)
c.-14+3940C>T (n.-14+3940C>T)
6g.31817073G>CCA449806365HSPA1A,HSPA1Lc.1317G>C (p.Leu439=)
c.822G>C (p.Leu274=)
c.-14+3940C>G (n.-14+3940C>G)
6g.31817073G>TCA449806366HSPA1A,HSPA1Lc.1317G>T (p.Leu439=)
c.822G>T (p.Leu274=)
c.-14+3940C>A (n.-14+3940C>A)
6g.31817074A>CCA363417228HSPA1A,HSPA1Lc.1318A>C (p.Ile440Leu)
c.823A>C (p.Ile275Leu)
c.-14+3939T>G (n.-14+3939T>G)
6g.31817074A>GCA363417233HSPA1A,HSPA1Lc.1318A>G (p.Ile440Val)
c.823A>G (p.Ile275Val)
c.-14+3939T>C (n.-14+3939T>C)
6g.31817074A>TCA363417238HSPA1A,HSPA1Lc.1318A>T (p.Ile440Phe)
c.823A>T (p.Ile275Phe)
c.-14+3939T>A (n.-14+3939T>A)
6g.31817075T>ACA363417252HSPA1A,HSPA1Lc.1319T>A (p.Ile440Asn)
c.824T>A (p.Ile275Asn)
c.-14+3938A>T (n.-14+3938A>T)
6g.31817075T>CCA363417256HSPA1A,HSPA1Lc.1319T>C (p.Ile440Thr)
c.824T>C (p.Ile275Thr)
c.-14+3938A>G (n.-14+3938A>G)
6g.31817075T>GCA363417276HSPA1A,HSPA1Lc.1319T>G (p.Ile440Ser)
c.824T>G (p.Ile275Ser)
c.-14+3938A>C (n.-14+3938A>C)
6g.31817076C>ACA449806368HSPA1A,HSPA1Lc.1320C>A (p.Ile440=)
c.825C>A (p.Ile275=)
c.-14+3937G>T (n.-14+3937G>T)
6g.31817076C>GCA363417280HSPA1A,HSPA1Lc.1320C>G (p.Ile440Met)
c.825C>G (p.Ile275Met)
c.-14+3937G>C (n.-14+3937G>C)
6g.31817076C>TCA449806369HSPA1A,HSPA1Lc.1320C>T (p.Ile440=)
c.825C>T (p.Ile275=)
c.-14+3937G>A (n.-14+3937G>A)
6g.31817077delCA2678045132HSPA1A,HSPA1Lc.1321del (p.Gln441ArgfsTer9)
c.826del (p.Gln276ArgfsTer9)
c.-14+3937del (n.-14+3937del)
gnomAD v4
6g.31817077C>ACA363417307HSPA1A,HSPA1Lc.1321C>A (p.Gln441Lys)
c.826C>A (p.Gln276Lys)
c.-14+3936G>T (n.-14+3936G>T)
6g.31817077C=CA1619307572HSPA1A,HSPA1Lc.1321C= (p.Gln441=)
c.826C= (p.Gln276=)
c.-14+3936G= (n.-14+3936G=)
6g.31817077C>GCA363417312HSPA1A,HSPA1Lc.1321C>G (p.Gln441Glu)
c.826C>G (p.Gln276Glu)
c.-14+3936G>C (n.-14+3936G>C)
6g.31817077C>TCA363417304HSPA1A,HSPA1Lc.1321C>T (p.Gln441Ter)
c.826C>T (p.Gln276Ter)
c.-14+3936G>A (n.-14+3936G>A)
dbSNP gnomAD v2 gnomAD v4
6g.31817078A>CCA363417319HSPA1A,HSPA1Lc.1322A>C (p.Gln441Pro)
c.827A>C (p.Gln276Pro)
c.-14+3935T>G (n.-14+3935T>G)
6g.31817078A>GCA363417322HSPA1A,HSPA1Lc.1322A>G (p.Gln441Arg)
c.827A>G (p.Gln276Arg)
c.-14+3935T>C (n.-14+3935T>C)
6g.31817078A>TCA363417323HSPA1A,HSPA1Lc.1322A>T (p.Gln441Leu)
c.827A>T (p.Gln276Leu)
c.-14+3935T>A (n.-14+3935T>A)
6g.31817079G>ACA449806373HSPA1A,HSPA1Lc.1323G>A (p.Gln441=)
c.828G>A (p.Gln276=)
c.-14+3934C>T (n.-14+3934C>T)
6g.31817079G>CCA363417324HSPA1A,HSPA1Lc.1323G>C (p.Gln441His)
c.828G>C (p.Gln276His)
c.-14+3934C>G (n.-14+3934C>G)
gnomAD v4
6g.31817079G>TCA363417325HSPA1A,HSPA1Lc.1323G>T (p.Gln441His)
c.828G>T (p.Gln276His)
c.-14+3934C>A (n.-14+3934C>A)
6g.31817080G>ACA363417336HSPA1A,HSPA1Lc.1324G>A (p.Val442Met)
c.829G>A (p.Val277Met)
c.-14+3933C>T (n.-14+3933C>T)
6g.31817080G>CCA363417334HSPA1A,HSPA1Lc.1324G>C (p.Val442Leu)
c.829G>C (p.Val277Leu)
c.-14+3933C>G (n.-14+3933C>G)
6g.31817080G>TCA363417332HSPA1A,HSPA1Lc.1324G>T (p.Val442Leu)
c.829G>T (p.Val277Leu)
c.-14+3933C>A (n.-14+3933C>A)
6g.31817081T>ACA363417344HSPA1A,HSPA1Lc.1325T>A (p.Val442Glu)
c.830T>A (p.Val277Glu)
c.-14+3932A>T (n.-14+3932A>T)
6g.31817081T>CCA363417348HSPA1A,HSPA1Lc.1325T>C (p.Val442Ala)
c.830T>C (p.Val277Ala)
c.-14+3932A>G (n.-14+3932A>G)
6g.31817081T>GCA363417351HSPA1A,HSPA1Lc.1325T>G (p.Val442Gly)
c.830T>G (p.Val277Gly)
c.-14+3932A>C (n.-14+3932A>C)
gnomAD v3 gnomAD v4
6g.31817082G>ACA449806376HSPA1A,HSPA1Lc.1326G>A (p.Val442=)
c.831G>A (p.Val277=)
c.-14+3931C>T (n.-14+3931C>T)
6g.31817082G>CCA449806377HSPA1A,HSPA1Lc.1326G>C (p.Val442=)
c.831G>C (p.Val277=)
c.-14+3931C>G (n.-14+3931C>G)
gnomAD v4
6g.31817082G=CA1619307573HSPA1A,HSPA1Lc.1326G= (p.Val442=)
c.831G= (p.Val277=)
c.-14+3931C= (n.-14+3931C=)
6g.31817082G>TCA449806378HSPA1A,HSPA1Lc.1326G>T (p.Val442=)
c.831G>T (p.Val277=)
c.-14+3931C>A (n.-14+3931C>A)
dbSNP
6g.31817083T>ACA363417355HSPA1A,HSPA1Lc.1327T>A (p.Tyr443Asn)
c.832T>A (p.Tyr278Asn)
c.-14+3930A>T (n.-14+3930A>T)
6g.31817083T>CCA363417359HSPA1A,HSPA1Lc.1327T>C (p.Tyr443His)
c.832T>C (p.Tyr278His)
c.-14+3930A>G (n.-14+3930A>G)
6g.31817083T>GCA363417362HSPA1A,HSPA1Lc.1327T>G (p.Tyr443Asp)
c.832T>G (p.Tyr278Asp)
c.-14+3930A>C (n.-14+3930A>C)
6g.31817084A>CCA363417371HSPA1A,HSPA1Lc.1328A>C (p.Tyr443Ser)
c.833A>C (p.Tyr278Ser)
c.-14+3929T>G (n.-14+3929T>G)
6g.31817084A>GCA363417363HSPA1A,HSPA1Lc.1328A>G (p.Tyr443Cys)
c.833A>G (p.Tyr278Cys)
c.-14+3929T>C (n.-14+3929T>C)
6g.31817084A>TCA363417367HSPA1A,HSPA1Lc.1328A>T (p.Tyr443Phe)
c.833A>T (p.Tyr278Phe)
c.-14+3929T>A (n.-14+3929T>A)
6g.31817085C>ACA363417375HSPA1A,HSPA1Lc.1329C>A (p.Tyr443Ter)
c.834C>A (p.Tyr278Ter)
c.-14+3928G>T (n.-14+3928G>T)
6g.31817085C=CA1619307574HSPA1A,HSPA1Lc.1329C= (p.Tyr443=)
c.834C= (p.Tyr278=)
c.-14+3928G= (n.-14+3928G=)
6g.31817085C>GCA363417379HSPA1A,HSPA1Lc.1329C>G (p.Tyr443Ter)
c.834C>G (p.Tyr278Ter)
c.-14+3928G>C (n.-14+3928G>C)
gnomAD v4
6g.31817085C>TCA449806380HSPA1A,HSPA1Lc.1329C>T (p.Tyr443=)
c.834C>T (p.Tyr278=)
c.-14+3928G>A (n.-14+3928G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31817085_31817093delinsCGAGGGCGACA1619307575HSPA1A,HSPA1Lc.1329_1337delinsCGAGGGCGA (p.Tyr443=)
c.834_842delinsCGAGGGCGA (p.Tyr278=)
c.-14+3920_-14+3928delinsTCGCCCTCG (n.-14+3920_-14+3928delinsTCGCCCTCG)
6g.31817086G>ACA363417383HSPA1A,HSPA1Lc.1330G>A (p.Glu444Lys)
c.835G>A (p.Glu279Lys)
c.-14+3927C>T (n.-14+3927C>T)
gnomAD v4
6g.31817086G>CCA363417385HSPA1A,HSPA1Lc.1330G>C (p.Glu444Gln)
c.835G>C (p.Glu279Gln)
c.-14+3927C>G (n.-14+3927C>G)
6g.31817086G>TCA363417384HSPA1A,HSPA1Lc.1330G>T (p.Glu444Ter)
c.835G>T (p.Glu279Ter)
c.-14+3927C>A (n.-14+3927C>A)
6g.31817092_31817099delCA823903408HSPA1A,HSPA1Lc.1336_1343del (p.Glu446HisfsTer?)
c.841_848del (p.Glu281HisfsTer?)
c.-14+3920_-14+3927del (n.-14+3920_-14+3927del)
dbSNP gnomAD v3 gnomAD v4
6g.31817087A>CCA363417388HSPA1A,HSPA1Lc.1331A>C (p.Glu444Ala)
c.836A>C (p.Glu279Ala)
c.-14+3926T>G (n.-14+3926T>G)
6g.31817087A>GCA363417397HSPA1A,HSPA1Lc.1331A>G (p.Glu444Gly)
c.836A>G (p.Glu279Gly)
c.-14+3926T>C (n.-14+3926T>C)
6g.31817087A>TCA363417392HSPA1A,HSPA1Lc.1331A>T (p.Glu444Val)
c.836A>T (p.Glu279Val)
c.-14+3926T>A (n.-14+3926T>A)
gnomAD v4
6g.31817088G>ACA449806382HSPA1A,HSPA1Lc.1332G>A (p.Glu444=)
c.837G>A (p.Glu279=)
c.-14+3925C>T (n.-14+3925C>T)
6g.31817088G>CCA363417399HSPA1A,HSPA1Lc.1332G>C (p.Glu444Asp)
c.837G>C (p.Glu279Asp)
c.-14+3925C>G (n.-14+3925C>G)
6g.31817088G>TCA363417401HSPA1A,HSPA1Lc.1332G>T (p.Glu444Asp)
c.837G>T (p.Glu279Asp)
c.-14+3925C>A (n.-14+3925C>A)
gnomAD v4
6g.31817089G>ACA363417407HSPA1A,HSPA1Lc.1333G>A (p.Gly445Ser)
c.838G>A (p.Gly280Ser)
c.-14+3924C>T (n.-14+3924C>T)
6g.31817089G>CCA363417411HSPA1A,HSPA1Lc.1333G>C (p.Gly445Arg)
c.838G>C (p.Gly280Arg)
c.-14+3924C>G (n.-14+3924C>G)
6g.31817089G>TCA363417415HSPA1A,HSPA1Lc.1333G>T (p.Gly445Cys)
c.838G>T (p.Gly280Cys)
c.-14+3924C>A (n.-14+3924C>A)
6g.31817090G>ACA363417421HSPA1A,HSPA1Lc.1334G>A (p.Gly445Asp)
c.839G>A (p.Gly280Asp)
c.-14+3923C>T (n.-14+3923C>T)
gnomAD v4
6g.31817090G>CCA363417424HSPA1A,HSPA1Lc.1334G>C (p.Gly445Ala)
c.839G>C (p.Gly280Ala)
c.-14+3923C>G (n.-14+3923C>G)
6g.31817090G>TCA363417428HSPA1A,HSPA1Lc.1334G>T (p.Gly445Val)
c.839G>T (p.Gly280Val)
c.-14+3923C>A (n.-14+3923C>A)
6g.31817091C>ACA449806384HSPA1A,HSPA1Lc.1335C>A (p.Gly445=)
c.840C>A (p.Gly280=)
c.-14+3922G>T (n.-14+3922G>T)
gnomAD v4
6g.31817091C=CA1619307576HSPA1A,HSPA1Lc.1335C= (p.Gly445=)
c.840C= (p.Gly280=)
c.-14+3922G= (n.-14+3922G=)
6g.31817091C>GCA449806385HSPA1A,HSPA1Lc.1335C>G (p.Gly445=)
c.840C>G (p.Gly280=)
c.-14+3922G>C (n.-14+3922G>C)
6g.31817091C>TCA449806386HSPA1A,HSPA1Lc.1335C>T (p.Gly445=)
c.840C>T (p.Gly280=)
c.-14+3922G>A (n.-14+3922G>A)
dbSNP gnomAD v4
6g.31817092G>ACA363417433HSPA1A,HSPA1Lc.1336G>A (p.Glu446Lys)
c.841G>A (p.Glu281Lys)
c.-14+3921C>T (n.-14+3921C>T)
6g.31817092G>CCA363417442HSPA1A,HSPA1Lc.1336G>C (p.Glu446Gln)
c.841G>C (p.Glu281Gln)
c.-14+3921C>G (n.-14+3921C>G)
6g.31817092G>TCA363417449HSPA1A,HSPA1Lc.1336G>T (p.Glu446Ter)
c.841G>T (p.Glu281Ter)
c.-14+3921C>A (n.-14+3921C>A)
6g.31817093A>CCA363417462HSPA1A,HSPA1Lc.1337A>C (p.Glu446Ala)
c.842A>C (p.Glu281Ala)
c.-14+3920T>G (n.-14+3920T>G)
6g.31817093A>GCA363417459HSPA1A,HSPA1Lc.1337A>G (p.Glu446Gly)
c.842A>G (p.Glu281Gly)
c.-14+3920T>C (n.-14+3920T>C)
6g.31817093A>TCA363417454HSPA1A,HSPA1Lc.1337A>T (p.Glu446Val)
c.842A>T (p.Glu281Val)
c.-14+3920T>A (n.-14+3920T>A)

Number of alleles fetched