Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
6g.31817094G>ACA449806388HSPA1A,HSPA1Lc.1338G>A (p.Glu446=)
c.843G>A (p.Glu281=)
c.-14+3919C>T (n.-14+3919C>T)
6g.31817094G>CCA363417466HSPA1A,HSPA1Lc.1338G>C (p.Glu446Asp)
c.843G>C (p.Glu281Asp)
c.-14+3919C>G (n.-14+3919C>G)
6g.31817094G>TCA363417469HSPA1A,HSPA1Lc.1338G>T (p.Glu446Asp)
c.843G>T (p.Glu281Asp)
c.-14+3919C>A (n.-14+3919C>A)
6g.31817095A>CCA449806390HSPA1A,HSPA1Lc.1339A>C (p.Arg447=)
c.844A>C (p.Arg282=)
c.-14+3918T>G (n.-14+3918T>G)
6g.31817095A>GCA363417471HSPA1A,HSPA1Lc.1339A>G (p.Arg447Gly)
c.844A>G (p.Arg282Gly)
c.-14+3918T>C (n.-14+3918T>C)
6g.31817095A>TCA363417473HSPA1A,HSPA1Lc.1339A>T (p.Arg447Trp)
c.844A>T (p.Arg282Trp)
c.-14+3918T>A (n.-14+3918T>A)
6g.31817096G>ACA363417479HSPA1A,HSPA1Lc.1340G>A (p.Arg447Lys)
c.845G>A (p.Arg282Lys)
c.-14+3917C>T (n.-14+3917C>T)
6g.31817096G>CCA363417485HSPA1A,HSPA1Lc.1340G>C (p.Arg447Thr)
c.845G>C (p.Arg282Thr)
c.-14+3917C>G (n.-14+3917C>G)
6g.31817096G>TCA363417488HSPA1A,HSPA1Lc.1340G>T (p.Arg447Met)
c.845G>T (p.Arg282Met)
c.-14+3917C>A (n.-14+3917C>A)
6g.31817097G>ACA449806392HSPA1A,HSPA1Lc.1341G>A (p.Arg447=)
c.846G>A (p.Arg282=)
c.-14+3916C>T (n.-14+3916C>T)
dbSNP gnomAD v2 gnomAD v4
6g.31817097G>CCA363417492HSPA1A,HSPA1Lc.1341G>C (p.Arg447Ser)
c.846G>C (p.Arg282Ser)
c.-14+3916C>G (n.-14+3916C>G)
6g.31817097G=CA1619307577HSPA1A,HSPA1Lc.1341G= (p.Arg447=)
c.846G= (p.Arg282=)
c.-14+3916C= (n.-14+3916C=)
6g.31817097G>TCA363417493HSPA1A,HSPA1Lc.1341G>T (p.Arg447Ser)
c.846G>T (p.Arg282Ser)
c.-14+3916C>A (n.-14+3916C>A)
6g.31817098G>ACA363417495HSPA1A,HSPA1Lc.1342G>A (p.Ala448Thr)
c.847G>A (p.Ala283Thr)
c.-14+3915C>T (n.-14+3915C>T)
dbSNP gnomAD v3 gnomAD v4
6g.31817098G>CCA363417496HSPA1A,HSPA1Lc.1342G>C (p.Ala448Pro)
c.847G>C (p.Ala283Pro)
c.-14+3915C>G (n.-14+3915C>G)
6g.31817098G=CA1619307578HSPA1A,HSPA1Lc.1342G= (p.Ala448=)
c.847G= (p.Ala283=)
c.-14+3915C= (n.-14+3915C=)
6g.31817098G>TCA363417506HSPA1A,HSPA1Lc.1342G>T (p.Ala448Ser)
c.847G>T (p.Ala283Ser)
c.-14+3915C>A (n.-14+3915C>A)
6g.31817099C>ACA363417523HSPA1A,HSPA1Lc.1343C>A (p.Ala448Asp)
c.848C>A (p.Ala283Asp)
c.-14+3914G>T (n.-14+3914G>T)
6g.31817099C>GCA363417513HSPA1A,HSPA1Lc.1343C>G (p.Ala448Gly)
c.848C>G (p.Ala283Gly)
c.-14+3914G>C (n.-14+3914G>C)
6g.31817099C>TCA363417510HSPA1A,HSPA1Lc.1343C>T (p.Ala448Val)
c.848C>T (p.Ala283Val)
c.-14+3914G>A (n.-14+3914G>A)
6g.31817100C>ACA449806396HSPA1A,HSPA1Lc.1344C>A (p.Ala448=)
c.849C>A (p.Ala283=)
c.-14+3913G>T (n.-14+3913G>T)
6g.31817100C>GCA449806398HSPA1A,HSPA1Lc.1344C>G (p.Ala448=)
c.849C>G (p.Ala283=)
c.-14+3913G>C (n.-14+3913G>C)
6g.31817100C>TCA449806397HSPA1A,HSPA1Lc.1344C>T (p.Ala448=)
c.849C>T (p.Ala283=)
c.-14+3913G>A (n.-14+3913G>A)
6g.31817101A>CCA363417527HSPA1A,HSPA1Lc.1345A>C (p.Met449Leu)
c.850A>C (p.Met284Leu)
c.-14+3912T>G (n.-14+3912T>G)
6g.31817101A>GCA363417528HSPA1A,HSPA1Lc.1345A>G (p.Met449Val)
c.850A>G (p.Met284Val)
c.-14+3912T>C (n.-14+3912T>C)
gnomAD v4
6g.31817101A>TCA363417530HSPA1A,HSPA1Lc.1345A>T (p.Met449Leu)
c.850A>T (p.Met284Leu)
c.-14+3912T>A (n.-14+3912T>A)
6g.31817102T>ACA363417537HSPA1A,HSPA1Lc.1346T>A (p.Met449Lys)
c.851T>A (p.Met284Lys)
c.-14+3911A>T (n.-14+3911A>T)
6g.31817102T>CCA363417539HSPA1A,HSPA1Lc.1346T>C (p.Met449Thr)
c.851T>C (p.Met284Thr)
c.-14+3911A>G (n.-14+3911A>G)
gnomAD v4
6g.31817102T>GCA363417541HSPA1A,HSPA1Lc.1346T>G (p.Met449Arg)
c.851T>G (p.Met284Arg)
c.-14+3911A>C (n.-14+3911A>C)
6g.31817103G>ACA363417545HSPA1A,HSPA1Lc.1347G>A (p.Met449Ile)
c.852G>A (p.Met284Ile)
c.-14+3910C>T (n.-14+3910C>T)
6g.31817103G>CCA363417547HSPA1A,HSPA1Lc.1347G>C (p.Met449Ile)
c.852G>C (p.Met284Ile)
c.-14+3910C>G (n.-14+3910C>G)
6g.31817103G>TCA363417548HSPA1A,HSPA1Lc.1347G>T (p.Met449Ile)
c.852G>T (p.Met284Ile)
c.-14+3910C>A (n.-14+3910C>A)
6g.31817104A>CCA363417549HSPA1A,HSPA1Lc.1348A>C (p.Thr450Pro)
c.853A>C (p.Thr285Pro)
c.-14+3909T>G (n.-14+3909T>G)
6g.31817104A>GCA363417550HSPA1A,HSPA1Lc.1348A>G (p.Thr450Ala)
c.853A>G (p.Thr285Ala)
c.-14+3909T>C (n.-14+3909T>C)
6g.31817104A>TCA363417551HSPA1A,HSPA1Lc.1348A>T (p.Thr450Ser)
c.853A>T (p.Thr285Ser)
c.-14+3909T>A (n.-14+3909T>A)
6g.31817105C>ACA363417564HSPA1A,HSPA1Lc.1349C>A (p.Thr450Lys)
c.854C>A (p.Thr285Lys)
c.-14+3908G>T (n.-14+3908G>T)
6g.31817105C=CA1619307579HSPA1A,HSPA1Lc.1349C= (p.Thr450=)
c.854C= (p.Thr285=)
c.-14+3908G= (n.-14+3908G=)
6g.31817105C>GCA363417566HSPA1A,HSPA1Lc.1349C>G (p.Thr450Arg)
c.854C>G (p.Thr285Arg)
c.-14+3908G>C (n.-14+3908G>C)
dbSNP
6g.31817105C>TCA363417561HSPA1A,HSPA1Lc.1349C>T (p.Thr450Met)
c.854C>T (p.Thr285Met)
c.-14+3908G>A (n.-14+3908G>A)
gnomAD v4
6g.31817106G>ACA449806405HSPA1A,HSPA1Lc.1350G>A (p.Thr450=)
c.855G>A (p.Thr285=)
c.-14+3907C>T (n.-14+3907C>T)
gnomAD v4
6g.31817106G>CCA449806407HSPA1A,HSPA1Lc.1350G>C (p.Thr450=)
c.855G>C (p.Thr285=)
c.-14+3907C>G (n.-14+3907C>G)
gnomAD v4
6g.31817106G>TCA449806406HSPA1A,HSPA1Lc.1350G>T (p.Thr450=)
c.855G>T (p.Thr285=)
c.-14+3907C>A (n.-14+3907C>A)
gnomAD v4
6g.31817107A>CCA363417568HSPA1A,HSPA1Lc.1351A>C (p.Lys451Gln)
c.856A>C (p.Lys286Gln)
c.-14+3906T>G (n.-14+3906T>G)
6g.31817107A>GCA363417571HSPA1A,HSPA1Lc.1351A>G (p.Lys451Glu)
c.856A>G (p.Lys286Glu)
c.-14+3906T>C (n.-14+3906T>C)
6g.31817107A>TCA363417575HSPA1A,HSPA1Lc.1351A>T (p.Lys451Ter)
c.856A>T (p.Lys286Ter)
c.-14+3906T>A (n.-14+3906T>A)
6g.31817108A>CCA363417579HSPA1A,HSPA1Lc.1352A>C (p.Lys451Thr)
c.857A>C (p.Lys286Thr)
c.-14+3905T>G (n.-14+3905T>G)
6g.31817108A>GCA363417581HSPA1A,HSPA1Lc.1352A>G (p.Lys451Arg)
c.857A>G (p.Lys286Arg)
c.-14+3905T>C (n.-14+3905T>C)
6g.31817108A>TCA363417584HSPA1A,HSPA1Lc.1352A>T (p.Lys451Ile)
c.857A>T (p.Lys286Ile)
c.-14+3905T>A (n.-14+3905T>A)
6g.31817109A>CCA363417588HSPA1A,HSPA1Lc.1353A>C (p.Lys451Asn)
c.858A>C (p.Lys286Asn)
c.-14+3904T>G (n.-14+3904T>G)
6g.31817109A>GCA449806408HSPA1A,HSPA1Lc.1353A>G (p.Lys451=)
c.858A>G (p.Lys286=)
c.-14+3904T>C (n.-14+3904T>C)
6g.31817109A>TCA363417591HSPA1A,HSPA1Lc.1353A>T (p.Lys451Asn)
c.858A>T (p.Lys286Asn)
c.-14+3904T>A (n.-14+3904T>A)
6g.31817110G>ACA363417598HSPA1A,HSPA1Lc.1354G>A (p.Asp452Asn)
c.859G>A (p.Asp287Asn)
c.-14+3903C>T (n.-14+3903C>T)
6g.31817110G>CCA363417601HSPA1A,HSPA1Lc.1354G>C (p.Asp452His)
c.859G>C (p.Asp287His)
c.-14+3903C>G (n.-14+3903C>G)
6g.31817110G>TCA363417608HSPA1A,HSPA1Lc.1354G>T (p.Asp452Tyr)
c.859G>T (p.Asp287Tyr)
c.-14+3903C>A (n.-14+3903C>A)
6g.31817110_31817113delinsGACACA1619307580HSPA1A,HSPA1Lc.1354_1357delinsGACA (p.Asp452=)
c.859_862delinsGACA (p.Asp287=)
c.-14+3900_-14+3903delinsTGTC (n.-14+3900_-14+3903delinsTGTC)
6g.31817111A>CCA363417613HSPA1A,HSPA1Lc.1355A>C (p.Asp452Ala)
c.860A>C (p.Asp287Ala)
c.-14+3902T>G (n.-14+3902T>G)
6g.31817111A>GCA363417615HSPA1A,HSPA1Lc.1355A>G (p.Asp452Gly)
c.860A>G (p.Asp287Gly)
c.-14+3902T>C (n.-14+3902T>C)
6g.31817111A>TCA363417620HSPA1A,HSPA1Lc.1355A>T (p.Asp452Val)
c.860A>T (p.Asp287Val)
c.-14+3902T>A (n.-14+3902T>A)
6g.31817115_31817117delCA566692201HSPA1A,HSPA1Lc.1359_1361del (p.Asn454del)
c.864_866del (p.Asn289del)
c.-14+3900_-14+3902del (n.-14+3900_-14+3902del)
dbSNP gnomAD v2 gnomAD v4
6g.31817112C>ACA363417625HSPA1A,HSPA1Lc.1356C>A (p.Asp452Glu)
c.861C>A (p.Asp287Glu)
c.-14+3901G>T (n.-14+3901G>T)
6g.31817112C>GCA363417629HSPA1A,HSPA1Lc.1356C>G (p.Asp452Glu)
c.861C>G (p.Asp287Glu)
c.-14+3901G>C (n.-14+3901G>C)
6g.31817112C>TCA449806409HSPA1A,HSPA1Lc.1356C>T (p.Asp452=)
c.861C>T (p.Asp287=)
c.-14+3901G>A (n.-14+3901G>A)
6g.31817113A=CA1619307581HSPA1A,HSPA1Lc.1357A= (p.Asn453=)
c.862A= (p.Asn288=)
c.-14+3900T= (n.-14+3900T=)
6g.31817113A>CCA363417637HSPA1A,HSPA1Lc.1357A>C (p.Asn453His)
c.862A>C (p.Asn288His)
c.-14+3900T>G (n.-14+3900T>G)
6g.31817113A>GCA363417644HSPA1A,HSPA1Lc.1357A>G (p.Asn453Asp)
c.862A>G (p.Asn288Asp)
c.-14+3900T>C (n.-14+3900T>C)
dbSNP
6g.31817113A>TCA363417639HSPA1A,HSPA1Lc.1357A>T (p.Asn453Tyr)
c.862A>T (p.Asn288Tyr)
c.-14+3900T>A (n.-14+3900T>A)
6g.31817114A>CCA363417653HSPA1A,HSPA1Lc.1358A>C (p.Asn453Thr)
c.863A>C (p.Asn288Thr)
c.-14+3899T>G (n.-14+3899T>G)
gnomAD v4
6g.31817114A>GCA363417657HSPA1A,HSPA1Lc.1358A>G (p.Asn453Ser)
c.863A>G (p.Asn288Ser)
c.-14+3899T>C (n.-14+3899T>C)
6g.31817114A>TCA363417659HSPA1A,HSPA1Lc.1358A>T (p.Asn453Ile)
c.863A>T (p.Asn288Ile)
c.-14+3899T>A (n.-14+3899T>A)
6g.31817115C>ACA363417678HSPA1A,HSPA1Lc.1359C>A (p.Asn453Lys)
c.864C>A (p.Asn288Lys)
c.-14+3898G>T (n.-14+3898G>T)
6g.31817115C=CA1619307582HSPA1A,HSPA1Lc.1359C= (p.Asn453=)
c.864C= (p.Asn288=)
c.-14+3898G= (n.-14+3898G=)
6g.31817115C>GCA363417683HSPA1A,HSPA1Lc.1359C>G (p.Asn453Lys)
c.864C>G (p.Asn288Lys)
c.-14+3898G>C (n.-14+3898G>C)
6g.31817115C>TCA449806410HSPA1A,HSPA1Lc.1359C>T (p.Asn453=)
c.864C>T (p.Asn288=)
c.-14+3898G>A (n.-14+3898G>A)
dbSNP gnomAD v4
6g.31817116A>CCA363417689HSPA1A,HSPA1Lc.1360A>C (p.Asn454His)
c.865A>C (p.Asn289His)
c.-14+3897T>G (n.-14+3897T>G)
6g.31817116A>GCA363417694HSPA1A,HSPA1Lc.1360A>G (p.Asn454Asp)
c.865A>G (p.Asn289Asp)
c.-14+3897T>C (n.-14+3897T>C)
6g.31817116A>TCA363417710HSPA1A,HSPA1Lc.1360A>T (p.Asn454Tyr)
c.865A>T (p.Asn289Tyr)
c.-14+3897T>A (n.-14+3897T>A)
6g.31817117A>CCA363417713HSPA1A,HSPA1Lc.1361A>C (p.Asn454Thr)
c.866A>C (p.Asn289Thr)
c.-14+3896T>G (n.-14+3896T>G)
6g.31817117A>GCA363417714HSPA1A,HSPA1Lc.1361A>G (p.Asn454Ser)
c.866A>G (p.Asn289Ser)
c.-14+3896T>C (n.-14+3896T>C)
gnomAD v4
6g.31817117A>TCA363417717HSPA1A,HSPA1Lc.1361A>T (p.Asn454Ile)
c.866A>T (p.Asn289Ile)
c.-14+3896T>A (n.-14+3896T>A)
6g.31817118T>ACA363417722HSPA1A,HSPA1Lc.1362T>A (p.Asn454Lys)
c.867T>A (p.Asn289Lys)
c.-14+3895A>T (n.-14+3895A>T)
6g.31817118T>CCA449806411HSPA1A,HSPA1Lc.1362T>C (p.Asn454=)
c.867T>C (p.Asn289=)
c.-14+3895A>G (n.-14+3895A>G)
gnomAD v3 gnomAD v4
6g.31817118T>GCA363417723HSPA1A,HSPA1Lc.1362T>G (p.Asn454Lys)
c.867T>G (p.Asn289Lys)
c.-14+3895A>C (n.-14+3895A>C)
6g.31817119C>ACA363417724HSPA1A,HSPA1Lc.1363C>A (p.Leu455Met)
c.868C>A (p.Leu290Met)
c.-14+3894G>T (n.-14+3894G>T)
dbSNP
6g.31817119C=CA1619307583HSPA1A,HSPA1Lc.1363C= (p.Leu455=)
c.868C= (p.Leu290=)
c.-14+3894G= (n.-14+3894G=)
6g.31817119C>GCA363417725HSPA1A,HSPA1Lc.1363C>G (p.Leu455Val)
c.868C>G (p.Leu290Val)
c.-14+3894G>C (n.-14+3894G>C)
6g.31817119C>TCA449806412HSPA1A,HSPA1Lc.1363C>T (p.Leu455=)
c.868C>T (p.Leu290=)
c.-14+3894G>A (n.-14+3894G>A)
6g.31817120T>ACA363417730HSPA1A,HSPA1Lc.1364T>A (p.Leu455Gln)
c.869T>A (p.Leu290Gln)
c.-14+3893A>T (n.-14+3893A>T)
6g.31817120T>CCA363417738HSPA1A,HSPA1Lc.1364T>C (p.Leu455Pro)
c.869T>C (p.Leu290Pro)
c.-14+3893A>G (n.-14+3893A>G)
6g.31817120T>GCA363417741HSPA1A,HSPA1Lc.1364T>G (p.Leu455Arg)
c.869T>G (p.Leu290Arg)
c.-14+3893A>C (n.-14+3893A>C)
6g.31817121G>ACA449806413HSPA1A,HSPA1Lc.1365G>A (p.Leu455=)
c.870G>A (p.Leu290=)
c.-14+3892C>T (n.-14+3892C>T)
gnomAD v4
6g.31817121G>CCA449806414HSPA1A,HSPA1Lc.1365G>C (p.Leu455=)
c.870G>C (p.Leu290=)
c.-14+3892C>G (n.-14+3892C>G)
6g.31817121G>TCA449806415HSPA1A,HSPA1Lc.1365G>T (p.Leu455=)
c.870G>T (p.Leu290=)
c.-14+3892C>A (n.-14+3892C>A)
gnomAD v4
6g.31817122T>ACA363417744HSPA1A,HSPA1Lc.1366T>A (p.Leu456Met)
c.871T>A (p.Leu291Met)
c.-14+3891A>T (n.-14+3891A>T)
6g.31817122T>CCA449806416HSPA1A,HSPA1Lc.1366T>C (p.Leu456=)
c.871T>C (p.Leu291=)
c.-14+3891A>G (n.-14+3891A>G)
6g.31817122T>GCA363417745HSPA1A,HSPA1Lc.1366T>G (p.Leu456Val)
c.871T>G (p.Leu291Val)
c.-14+3891A>C (n.-14+3891A>C)
6g.31817123T>ACA363417747HSPA1A,HSPA1Lc.1367T>A (p.Leu456Ter)
c.872T>A (p.Leu291Ter)
c.-14+3890A>T (n.-14+3890A>T)
6g.31817123T>CCA363417750HSPA1A,HSPA1Lc.1367T>C (p.Leu456Ser)
c.872T>C (p.Leu291Ser)
c.-14+3890A>G (n.-14+3890A>G)
gnomAD v4
6g.31817123T>GCA363417753HSPA1A,HSPA1Lc.1367T>G (p.Leu456Trp)
c.872T>G (p.Leu291Trp)
c.-14+3890A>C (n.-14+3890A>C)
6g.31817124G>ACA449806417HSPA1A,HSPA1Lc.1368G>A (p.Leu456=)
c.873G>A (p.Leu291=)
c.-14+3889C>T (n.-14+3889C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31817124G>CCA363417758HSPA1A,HSPA1Lc.1368G>C (p.Leu456Phe)
c.873G>C (p.Leu291Phe)
c.-14+3889C>G (n.-14+3889C>G)
6g.31817124G=CA1619307584HSPA1A,HSPA1Lc.1368G= (p.Leu456=)
c.873G= (p.Leu291=)
c.-14+3889C= (n.-14+3889C=)
6g.31817124G>TCA363417760HSPA1A,HSPA1Lc.1368G>T (p.Leu456Phe)
c.873G>T (p.Leu291Phe)
c.-14+3889C>A (n.-14+3889C>A)
6g.31817125G>ACA363417767HSPA1A,HSPA1Lc.1369G>A (p.Gly457Arg)
c.874G>A (p.Gly292Arg)
c.-14+3888C>T (n.-14+3888C>T)
gnomAD v4
6g.31817125G>CCA363417770HSPA1A,HSPA1Lc.1369G>C (p.Gly457Arg)
c.874G>C (p.Gly292Arg)
c.-14+3888C>G (n.-14+3888C>G)
6g.31817125G>TCA363417773HSPA1A,HSPA1Lc.1369G>T (p.Gly457Trp)
c.874G>T (p.Gly292Trp)
c.-14+3888C>A (n.-14+3888C>A)
6g.31817126G>ACA363417777HSPA1A,HSPA1Lc.1370G>A (p.Gly457Glu)
c.875G>A (p.Gly292Glu)
c.-14+3887C>T (n.-14+3887C>T)
6g.31817126G>CCA363417780HSPA1A,HSPA1Lc.1370G>C (p.Gly457Ala)
c.875G>C (p.Gly292Ala)
c.-14+3887C>G (n.-14+3887C>G)
gnomAD v4
6g.31817126G>TCA363417779HSPA1A,HSPA1Lc.1370G>T (p.Gly457Val)
c.875G>T (p.Gly292Val)
c.-14+3887C>A (n.-14+3887C>A)
6g.31817127G>ACA449806418HSPA1A,HSPA1Lc.1371G>A (p.Gly457=)
c.876G>A (p.Gly292=)
c.-14+3886C>T (n.-14+3886C>T)
6g.31817127G>CCA449806419HSPA1A,HSPA1Lc.1371G>C (p.Gly457=)
c.876G>C (p.Gly292=)
c.-14+3886C>G (n.-14+3886C>G)
6g.31817127G>TCA449806420HSPA1A,HSPA1Lc.1371G>T (p.Gly457=)
c.876G>T (p.Gly292=)
c.-14+3886C>A (n.-14+3886C>A)
6g.31817128C>ACA363417785HSPA1A,HSPA1Lc.1372C>A (p.Arg458Ser)
c.877C>A (p.Arg293Ser)
c.-14+3885G>T (n.-14+3885G>T)
6g.31817128C>GCA363417787HSPA1A,HSPA1Lc.1372C>G (p.Arg458Gly)
c.877C>G (p.Arg293Gly)
c.-14+3885G>C (n.-14+3885G>C)
6g.31817128C>TCA363417791HSPA1A,HSPA1Lc.1372C>T (p.Arg458Cys)
c.877C>T (p.Arg293Cys)
c.-14+3885G>A (n.-14+3885G>A)
gnomAD v4
6g.31817129G>ACA363417796HSPA1A,HSPA1Lc.1373G>A (p.Arg458His)
c.878G>A (p.Arg293His)
c.-14+3884C>T (n.-14+3884C>T)
dbSNP gnomAD v2 gnomAD v4
6g.31817129G>CCA363417799HSPA1A,HSPA1Lc.1373G>C (p.Arg458Pro)
c.878G>C (p.Arg293Pro)
c.-14+3884C>G (n.-14+3884C>G)
6g.31817129G=CA1619307585HSPA1A,HSPA1Lc.1373G= (p.Arg458=)
c.878G= (p.Arg293=)
c.-14+3884C= (n.-14+3884C=)
6g.31817129G>TCA363417805HSPA1A,HSPA1Lc.1373G>T (p.Arg458Leu)
c.878G>T (p.Arg293Leu)
c.-14+3884C>A (n.-14+3884C>A)
6g.31817130C>ACA449806421HSPA1A,HSPA1Lc.1374C>A (p.Arg458=)
c.879C>A (p.Arg293=)
c.-14+3883G>T (n.-14+3883G>T)
6g.31817130C>GCA449806422HSPA1A,HSPA1Lc.1374C>G (p.Arg458=)
c.879C>G (p.Arg293=)
c.-14+3883G>C (n.-14+3883G>C)
6g.31817130C>TCA449806423HSPA1A,HSPA1Lc.1374C>T (p.Arg458=)
c.879C>T (p.Arg293=)
c.-14+3883G>A (n.-14+3883G>A)
6g.31817131T>ACA363417823HSPA1A,HSPA1Lc.1375T>A (p.Phe459Ile)
c.880T>A (p.Phe294Ile)
c.-14+3882A>T (n.-14+3882A>T)
6g.31817131T>CCA363417809HSPA1A,HSPA1Lc.1375T>C (p.Phe459Leu)
c.880T>C (p.Phe294Leu)
c.-14+3882A>G (n.-14+3882A>G)
6g.31817131T>GCA363417813HSPA1A,HSPA1Lc.1375T>G (p.Phe459Val)
c.880T>G (p.Phe294Val)
c.-14+3882A>C (n.-14+3882A>C)
6g.31817132T>ACA363417830HSPA1A,HSPA1Lc.1376T>A (p.Phe459Tyr)
c.881T>A (p.Phe294Tyr)
c.-14+3881A>T (n.-14+3881A>T)
6g.31817132T>CCA363417833HSPA1A,HSPA1Lc.1376T>C (p.Phe459Ser)
c.881T>C (p.Phe294Ser)
c.-14+3881A>G (n.-14+3881A>G)
6g.31817132T>GCA363417837HSPA1A,HSPA1Lc.1376T>G (p.Phe459Cys)
c.881T>G (p.Phe294Cys)
c.-14+3881A>C (n.-14+3881A>C)
6g.31817133C>ACA363417841HSPA1A,HSPA1Lc.1377C>A (p.Phe459Leu)
c.882C>A (p.Phe294Leu)
c.-14+3880G>T (n.-14+3880G>T)
6g.31817133C=CA1619307586HSPA1A,HSPA1Lc.1377C= (p.Phe459=)
c.882C= (p.Phe294=)
c.-14+3880G= (n.-14+3880G=)
6g.31817133C>GCA363417843HSPA1A,HSPA1Lc.1377C>G (p.Phe459Leu)
c.882C>G (p.Phe294Leu)
c.-14+3880G>C (n.-14+3880G>C)
gnomAD v4
6g.31817133C>TCA449806424HSPA1A,HSPA1Lc.1377C>T (p.Phe459=)
c.882C>T (p.Phe294=)
c.-14+3880G>A (n.-14+3880G>A)
dbSNP gnomAD v3 gnomAD v4
6g.31817134G>ACA363417847HSPA1A,HSPA1Lc.1378G>A (p.Glu460Lys)
c.883G>A (p.Glu295Lys)
c.-14+3879C>T (n.-14+3879C>T)
6g.31817134G>CCA363417849HSPA1A,HSPA1Lc.1378G>C (p.Glu460Gln)
c.883G>C (p.Glu295Gln)
c.-14+3879C>G (n.-14+3879C>G)
gnomAD v4
6g.31817134G>TCA363417848HSPA1A,HSPA1Lc.1378G>T (p.Glu460Ter)
c.883G>T (p.Glu295Ter)
c.-14+3879C>A (n.-14+3879C>A)
6g.31817135A>CCA363417852HSPA1A,HSPA1Lc.1379A>C (p.Glu460Ala)
c.884A>C (p.Glu295Ala)
c.-14+3878T>G (n.-14+3878T>G)
6g.31817135A>GCA363417854HSPA1A,HSPA1Lc.1379A>G (p.Glu460Gly)
c.884A>G (p.Glu295Gly)
c.-14+3878T>C (n.-14+3878T>C)
6g.31817135A>TCA363417856HSPA1A,HSPA1Lc.1379A>T (p.Glu460Val)
c.884A>T (p.Glu295Val)
c.-14+3878T>A (n.-14+3878T>A)
6g.31817136G>ACA449806425HSPA1A,HSPA1Lc.1380G>A (p.Glu460=)
c.885G>A (p.Glu295=)
c.-14+3877C>T (n.-14+3877C>T)
6g.31817136G>CCA363417865HSPA1A,HSPA1Lc.1380G>C (p.Glu460Asp)
c.885G>C (p.Glu295Asp)
c.-14+3877C>G (n.-14+3877C>G)
6g.31817136G>TCA363417868HSPA1A,HSPA1Lc.1380G>T (p.Glu460Asp)
c.885G>T (p.Glu295Asp)
c.-14+3877C>A (n.-14+3877C>A)
6g.31817137C>ACA363417875HSPA1A,HSPA1Lc.1381C>A (p.Leu461Met)
c.886C>A (p.Leu296Met)
c.-14+3876G>T (n.-14+3876G>T)
6g.31817137C>GCA363417876HSPA1A,HSPA1Lc.1381C>G (p.Leu461Val)
c.886C>G (p.Leu296Val)
c.-14+3876G>C (n.-14+3876G>C)
6g.31817137C>TCA449806426HSPA1A,HSPA1Lc.1381C>T (p.Leu461=)
c.886C>T (p.Leu296=)
c.-14+3876G>A (n.-14+3876G>A)

Number of alleles fetched