Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.1105700_1105703delinsTACACA2317520094GPX4c.478_481delinsTACA (p.Tyr160=)
c.286_289delinsTACA (p.Tyr96=)
c.361_364delinsTACA (p.Tyr121=)
c.-18_-15delinsTACA (n.-18_-15delinsTACA)
c.367_370delinsTACA (p.Tyr123=)
c.100_103delinsTACA (p.Tyr34=)
c.247_250delinsTACA (p.Tyr83=)
n.306_309delinsTACA
c.364_367delinsTACA (p.Tyr122=)
c.475_478delinsTACA (p.Tyr159=)
19g.1105703_1105705delCA783224343GPX4c.481_483del (p.Asn161del)
c.289_291del (p.Asn97del)
c.364_366del (p.Asn122del)
c.-15_-13del (n.-15_-13del)
c.370_372del (p.Asn124del)
c.103_105del (p.Asn35del)
c.250_252del (p.Asn84del)
n.309_311del
c.367_369del (p.Asn123del)
c.478_480del (p.Asn160del)
dbSNP gnomAD v3 gnomAD v4
19g.1105702C>ACA402937472GPX4c.480C>A (p.Tyr160Ter)
c.288C>A (p.Tyr96Ter)
c.363C>A (p.Tyr121Ter)
c.-16C>A (n.-16C>A)
c.369C>A (p.Tyr123Ter)
c.102C>A (p.Tyr34Ter)
c.249C>A (p.Tyr83Ter)
n.308C>A
c.366C>A (p.Tyr122Ter)
c.477C>A (p.Tyr159Ter)
19g.1105702C>GCA402937473GPX4c.480C>G (p.Tyr160Ter)
c.288C>G (p.Tyr96Ter)
c.363C>G (p.Tyr121Ter)
c.-16C>G (n.-16C>G)
c.369C>G (p.Tyr123Ter)
c.102C>G (p.Tyr34Ter)
c.249C>G (p.Tyr83Ter)
n.308C>G
c.366C>G (p.Tyr122Ter)
c.477C>G (p.Tyr159Ter)
19g.1105702C>TCA504890902GPX4c.480C>T (p.Tyr160=)
c.288C>T (p.Tyr96=)
c.363C>T (p.Tyr121=)
c.-16C>T (n.-16C>T)
c.369C>T (p.Tyr123=)
c.102C>T (p.Tyr34=)
c.249C>T (p.Tyr83=)
n.308C>T
c.366C>T (p.Tyr122=)
c.477C>T (p.Tyr159=)
19g.1105703A>CCA402937474GPX4c.481A>C (p.Asn161His)
c.289A>C (p.Asn97His)
c.364A>C (p.Asn122His)
c.-15A>C (n.-15A>C)
c.370A>C (p.Asn124His)
c.103A>C (p.Asn35His)
c.250A>C (p.Asn84His)
n.309A>C
c.367A>C (p.Asn123His)
c.478A>C (p.Asn160His)
19g.1105703A>GCA402937475GPX4c.481A>G (p.Asn161Asp)
c.289A>G (p.Asn97Asp)
c.364A>G (p.Asn122Asp)
c.-15A>G (n.-15A>G)
c.370A>G (p.Asn124Asp)
c.103A>G (p.Asn35Asp)
c.250A>G (p.Asn84Asp)
n.309A>G
c.367A>G (p.Asn123Asp)
c.478A>G (p.Asn160Asp)
19g.1105703A>TCA402937476GPX4c.481A>T (p.Asn161Tyr)
c.289A>T (p.Asn97Tyr)
c.364A>T (p.Asn122Tyr)
c.-15A>T (n.-15A>T)
c.370A>T (p.Asn124Tyr)
c.103A>T (p.Asn35Tyr)
c.250A>T (p.Asn84Tyr)
n.309A>T
c.367A>T (p.Asn123Tyr)
c.478A>T (p.Asn160Tyr)
19g.1105704A>CCA402937477GPX4c.482A>C (p.Asn161Thr)
c.290A>C (p.Asn97Thr)
c.365A>C (p.Asn122Thr)
c.-14A>C (n.-14A>C)
c.371A>C (p.Asn124Thr)
c.104A>C (p.Asn35Thr)
c.251A>C (p.Asn84Thr)
n.310A>C
c.368A>C (p.Asn123Thr)
c.479A>C (p.Asn160Thr)
gnomAD v3 gnomAD v4
19g.1105704A>GCA402937478GPX4c.482A>G (p.Asn161Ser)
c.290A>G (p.Asn97Ser)
c.365A>G (p.Asn122Ser)
c.-14A>G (n.-14A>G)
c.371A>G (p.Asn124Ser)
c.104A>G (p.Asn35Ser)
c.251A>G (p.Asn84Ser)
n.310A>G
c.368A>G (p.Asn123Ser)
c.479A>G (p.Asn160Ser)
19g.1105704A>TCA402937479GPX4c.482A>T (p.Asn161Ile)
c.290A>T (p.Asn97Ile)
c.365A>T (p.Asn122Ile)
c.-14A>T (n.-14A>T)
c.371A>T (p.Asn124Ile)
c.104A>T (p.Asn35Ile)
c.251A>T (p.Asn84Ile)
n.310A>T
c.368A>T (p.Asn123Ile)
c.479A>T (p.Asn160Ile)
19g.1105705C>ACA402937480GPX4c.483C>A (p.Asn161Lys)
c.291C>A (p.Asn97Lys)
c.366C>A (p.Asn122Lys)
c.-13C>A (n.-13C>A)
c.372C>A (p.Asn124Lys)
c.105C>A (p.Asn35Lys)
c.252C>A (p.Asn84Lys)
n.311C>A
c.369C>A (p.Asn123Lys)
c.480C>A (p.Asn160Lys)
gnomAD v4
19g.1105705C=CA2317520096GPX4c.483C= (p.Asn161=)
c.291C= (p.Asn97=)
c.366C= (p.Asn122=)
c.-13C= (n.-13C=)
c.372C= (p.Asn124=)
c.105C= (p.Asn35=)
c.252C= (p.Asn84=)
n.311C=
c.369C= (p.Asn123=)
c.480C= (p.Asn160=)
19g.1105705C>GCA402937481GPX4c.483C>G (p.Asn161Lys)
c.291C>G (p.Asn97Lys)
c.366C>G (p.Asn122Lys)
c.-13C>G (n.-13C>G)
c.372C>G (p.Asn124Lys)
c.105C>G (p.Asn35Lys)
c.252C>G (p.Asn84Lys)
n.311C>G
c.369C>G (p.Asn123Lys)
c.480C>G (p.Asn160Lys)
19g.1105705C>TCA9037337GPX4c.483C>T (p.Asn161=)
c.291C>T (p.Asn97=)
c.366C>T (p.Asn122=)
c.-13C>T (n.-13C>T)
c.372C>T (p.Asn124=)
c.105C>T (p.Asn35=)
c.252C>T (p.Asn84=)
n.311C>T
c.369C>T (p.Asn123=)
c.480C>T (p.Asn160=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1105706G>ACA303993920GPX4c.484G>A (p.Val162Ile)
c.292G>A (p.Val98Ile)
c.367G>A (p.Val123Ile)
c.-12G>A (n.-12G>A)
c.373G>A (p.Val125Ile)
c.106G>A (p.Val36Ile)
c.253G>A (p.Val85Ile)
n.312G>A
c.370G>A (p.Val124Ile)
c.481G>A (p.Val161Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.1105706G>CCA402937483GPX4c.484G>C (p.Val162Leu)
c.292G>C (p.Val98Leu)
c.367G>C (p.Val123Leu)
c.-12G>C (n.-12G>C)
c.373G>C (p.Val125Leu)
c.106G>C (p.Val36Leu)
c.253G>C (p.Val85Leu)
n.312G>C
c.370G>C (p.Val124Leu)
c.481G>C (p.Val161Leu)
19g.1105706G=CA2317520097GPX4c.484G= (p.Val162=)
c.292G= (p.Val98=)
c.367G= (p.Val123=)
c.-12G= (n.-12G=)
c.373G= (p.Val125=)
c.106G= (p.Val36=)
c.253G= (p.Val85=)
n.312G=
c.370G= (p.Val124=)
c.481G= (p.Val161=)
19g.1105706G>TCA402937482GPX4c.484G>T (p.Val162Phe)
c.292G>T (p.Val98Phe)
c.367G>T (p.Val123Phe)
c.-12G>T (n.-12G>T)
c.373G>T (p.Val125Phe)
c.106G>T (p.Val36Phe)
c.253G>T (p.Val85Phe)
n.312G>T
c.370G>T (p.Val124Phe)
c.481G>T (p.Val161Phe)
19g.1105707T>ACA402937484GPX4c.485T>A (p.Val162Asp)
c.293T>A (p.Val98Asp)
c.368T>A (p.Val123Asp)
c.-11T>A (n.-11T>A)
c.374T>A (p.Val125Asp)
c.107T>A (p.Val36Asp)
c.254T>A (p.Val85Asp)
n.313T>A
c.371T>A (p.Val124Asp)
c.482T>A (p.Val161Asp)
19g.1105707T>CCA402937485GPX4c.485T>C (p.Val162Ala)
c.293T>C (p.Val98Ala)
c.368T>C (p.Val123Ala)
c.-11T>C (n.-11T>C)
c.374T>C (p.Val125Ala)
c.107T>C (p.Val36Ala)
c.254T>C (p.Val85Ala)
n.313T>C
c.371T>C (p.Val124Ala)
c.482T>C (p.Val161Ala)
19g.1105707T>GCA402937486GPX4c.485T>G (p.Val162Gly)
c.293T>G (p.Val98Gly)
c.368T>G (p.Val123Gly)
c.-11T>G (n.-11T>G)
c.374T>G (p.Val125Gly)
c.107T>G (p.Val36Gly)
c.254T>G (p.Val85Gly)
n.313T>G
c.371T>G (p.Val124Gly)
c.482T>G (p.Val161Gly)
19g.1105708C>ACA504890908GPX4c.486C>A (p.Val162=)
c.294C>A (p.Val98=)
c.369C>A (p.Val123=)
c.-10C>A (n.-10C>A)
c.375C>A (p.Val125=)
c.108C>A (p.Val36=)
c.255C>A (p.Val85=)
n.314C>A
c.372C>A (p.Val124=)
c.483C>A (p.Val161=)
dbSNP gnomAD v2
19g.1105708C=CA2317520098GPX4c.486C= (p.Val162=)
c.294C= (p.Val98=)
c.369C= (p.Val123=)
c.-10C= (n.-10C=)
c.375C= (p.Val125=)
c.108C= (p.Val36=)
c.255C= (p.Val85=)
n.314C=
c.372C= (p.Val124=)
c.483C= (p.Val161=)
19g.1105708C>GCA504890906GPX4c.486C>G (p.Val162=)
c.294C>G (p.Val98=)
c.369C>G (p.Val123=)
c.-10C>G (n.-10C>G)
c.375C>G (p.Val125=)
c.108C>G (p.Val36=)
c.255C>G (p.Val85=)
n.314C>G
c.372C>G (p.Val124=)
c.483C>G (p.Val161=)
19g.1105708C>TCA504890907GPX4c.486C>T (p.Val162=)
c.294C>T (p.Val98=)
c.369C>T (p.Val123=)
c.-10C>T (n.-10C>T)
c.375C>T (p.Val125=)
c.108C>T (p.Val36=)
c.255C>T (p.Val85=)
n.314C>T
c.372C>T (p.Val124=)
c.483C>T (p.Val161=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1105709A>CCA402937487GPX4c.487A>C (p.Lys163Gln)
c.295A>C (p.Lys99Gln)
c.370A>C (p.Lys124Gln)
c.-9A>C (n.-9A>C)
c.376A>C (p.Lys126Gln)
c.109A>C (p.Lys37Gln)
c.256A>C (p.Lys86Gln)
n.315A>C
c.373A>C (p.Lys125Gln)
c.484A>C (p.Lys162Gln)
19g.1105709A>GCA402937488GPX4c.487A>G (p.Lys163Glu)
c.295A>G (p.Lys99Glu)
c.370A>G (p.Lys124Glu)
c.-9A>G (n.-9A>G)
c.376A>G (p.Lys126Glu)
c.109A>G (p.Lys37Glu)
c.256A>G (p.Lys86Glu)
n.315A>G
c.373A>G (p.Lys125Glu)
c.484A>G (p.Lys162Glu)
19g.1105709A>TCA402937489GPX4c.487A>T (p.Lys163Ter)
c.295A>T (p.Lys99Ter)
c.370A>T (p.Lys124Ter)
c.-9A>T (n.-9A>T)
c.376A>T (p.Lys126Ter)
c.109A>T (p.Lys37Ter)
c.256A>T (p.Lys86Ter)
n.315A>T
c.373A>T (p.Lys125Ter)
c.484A>T (p.Lys162Ter)
19g.1105710_1105711delCA2588207174GPX4c.488_489del (p.Lys163IlefsTer?)
c.296_297del (p.Lys99IlefsTer?)
c.371_372del (p.Lys124IlefsTer?)
c.-8_-7del (n.-8_-7del)
c.377_378del (p.Lys126IlefsTer?)
c.110_111del (p.Lys37IlefsTer?)
c.257_258del (p.Lys86IlefsTer?)
n.316_317del
c.374_375del (p.Lys125IlefsTer?)
c.485_486del (p.Lys162IlefsTer?)
gnomAD v4
19g.1105710A>CCA402937490GPX4c.488A>C (p.Lys163Thr)
c.296A>C (p.Lys99Thr)
c.371A>C (p.Lys124Thr)
c.-8A>C (n.-8A>C)
c.377A>C (p.Lys126Thr)
c.110A>C (p.Lys37Thr)
c.257A>C (p.Lys86Thr)
n.316A>C
c.374A>C (p.Lys125Thr)
c.485A>C (p.Lys162Thr)
gnomAD v4
19g.1105710A>GCA402937491GPX4c.488A>G (p.Lys163Arg)
c.296A>G (p.Lys99Arg)
c.371A>G (p.Lys124Arg)
c.-8A>G (n.-8A>G)
c.377A>G (p.Lys126Arg)
c.110A>G (p.Lys37Arg)
c.257A>G (p.Lys86Arg)
n.316A>G
c.374A>G (p.Lys125Arg)
c.485A>G (p.Lys162Arg)
19g.1105710A>TCA402937492GPX4c.488A>T (p.Lys163Ile)
c.296A>T (p.Lys99Ile)
c.371A>T (p.Lys124Ile)
c.-8A>T (n.-8A>T)
c.377A>T (p.Lys126Ile)
c.110A>T (p.Lys37Ile)
c.257A>T (p.Lys86Ile)
n.316A>T
c.374A>T (p.Lys125Ile)
c.485A>T (p.Lys162Ile)
19g.1105711A=CA2317520099GPX4c.489A= (p.Lys163=)
c.297A= (p.Lys99=)
c.372A= (p.Lys124=)
c.-7A= (n.-7A=)
c.378A= (p.Lys126=)
c.111A= (p.Lys37=)
c.258A= (p.Lys86=)
n.317A=
c.375A= (p.Lys125=)
c.486A= (p.Lys162=)
19g.1105711A>CCA402937493GPX4c.489A>C (p.Lys163Asn)
c.297A>C (p.Lys99Asn)
c.372A>C (p.Lys124Asn)
c.-7A>C (n.-7A>C)
c.378A>C (p.Lys126Asn)
c.111A>C (p.Lys37Asn)
c.258A>C (p.Lys86Asn)
n.317A>C
c.375A>C (p.Lys125Asn)
c.486A>C (p.Lys162Asn)
dbSNP
19g.1105711A>GCA504890909GPX4c.489A>G (p.Lys163=)
c.297A>G (p.Lys99=)
c.372A>G (p.Lys124=)
c.-7A>G (n.-7A>G)
c.378A>G (p.Lys126=)
c.111A>G (p.Lys37=)
c.258A>G (p.Lys86=)
n.317A>G
c.375A>G (p.Lys125=)
c.486A>G (p.Lys162=)
19g.1105711A>TCA402937494GPX4c.489A>T (p.Lys163Asn)
c.297A>T (p.Lys99Asn)
c.372A>T (p.Lys124Asn)
c.-7A>T (n.-7A>T)
c.378A>T (p.Lys126Asn)
c.111A>T (p.Lys37Asn)
c.258A>T (p.Lys86Asn)
n.317A>T
c.375A>T (p.Lys125Asn)
c.486A>T (p.Lys162Asn)
19g.1105712T>ACA402937497GPX4c.490T>A (p.Phe164Ile)
c.298T>A (p.Phe100Ile)
c.373T>A (p.Phe125Ile)
c.-6T>A (n.-6T>A)
c.379T>A (p.Phe127Ile)
c.112T>A (p.Phe38Ile)
c.259T>A (p.Phe87Ile)
n.318T>A
c.376T>A (p.Phe126Ile)
c.487T>A (p.Phe163Ile)
19g.1105712T>CCA402937496GPX4c.490T>C (p.Phe164Leu)
c.298T>C (p.Phe100Leu)
c.373T>C (p.Phe125Leu)
c.-6T>C (n.-6T>C)
c.379T>C (p.Phe127Leu)
c.112T>C (p.Phe38Leu)
c.259T>C (p.Phe87Leu)
n.318T>C
c.376T>C (p.Phe126Leu)
c.487T>C (p.Phe163Leu)
19g.1105712T>GCA402937495GPX4c.490T>G (p.Phe164Val)
c.298T>G (p.Phe100Val)
c.373T>G (p.Phe125Val)
c.-6T>G (n.-6T>G)
c.379T>G (p.Phe127Val)
c.112T>G (p.Phe38Val)
c.259T>G (p.Phe87Val)
n.318T>G
c.376T>G (p.Phe126Val)
c.487T>G (p.Phe163Val)
19g.1105713T>ACA402937498GPX4c.491T>A (p.Phe164Tyr)
c.299T>A (p.Phe100Tyr)
c.374T>A (p.Phe125Tyr)
c.-5T>A (n.-5T>A)
c.380T>A (p.Phe127Tyr)
c.113T>A (p.Phe38Tyr)
c.260T>A (p.Phe87Tyr)
n.319T>A
c.377T>A (p.Phe126Tyr)
c.488T>A (p.Phe163Tyr)
19g.1105713T>CCA402937499GPX4c.491T>C (p.Phe164Ser)
c.299T>C (p.Phe100Ser)
c.374T>C (p.Phe125Ser)
c.-5T>C (n.-5T>C)
c.380T>C (p.Phe127Ser)
c.113T>C (p.Phe38Ser)
c.260T>C (p.Phe87Ser)
n.319T>C
c.377T>C (p.Phe126Ser)
c.488T>C (p.Phe163Ser)
19g.1105713T>GCA402937500GPX4c.491T>G (p.Phe164Cys)
c.299T>G (p.Phe100Cys)
c.374T>G (p.Phe125Cys)
c.-5T>G (n.-5T>G)
c.380T>G (p.Phe127Cys)
c.113T>G (p.Phe38Cys)
c.260T>G (p.Phe87Cys)
n.319T>G
c.377T>G (p.Phe126Cys)
c.488T>G (p.Phe163Cys)
19g.1105714C>ACA402937501GPX4c.492C>A (p.Phe164Leu)
c.300C>A (p.Phe100Leu)
c.375C>A (p.Phe125Leu)
c.-4C>A (n.-4C>A)
c.381C>A (p.Phe127Leu)
c.114C>A (p.Phe38Leu)
c.261C>A (p.Phe87Leu)
n.320C>A
c.378C>A (p.Phe126Leu)
c.489C>A (p.Phe163Leu)
19g.1105714C=CA2317520100GPX4c.492C= (p.Phe164=)
c.300C= (p.Phe100=)
c.375C= (p.Phe125=)
c.-4C= (n.-4C=)
c.381C= (p.Phe127=)
c.114C= (p.Phe38=)
c.261C= (p.Phe87=)
n.320C=
c.378C= (p.Phe126=)
c.489C= (p.Phe163=)
19g.1105714C>GCA402937502GPX4c.492C>G (p.Phe164Leu)
c.300C>G (p.Phe100Leu)
c.375C>G (p.Phe125Leu)
c.-4C>G (n.-4C>G)
c.381C>G (p.Phe127Leu)
c.114C>G (p.Phe38Leu)
c.261C>G (p.Phe87Leu)
n.320C>G
c.378C>G (p.Phe126Leu)
c.489C>G (p.Phe163Leu)
dbSNP
19g.1105714C>TCA504694593GPX4c.492C>T (p.Phe164=)
c.300C>T (p.Phe100=)
c.375C>T (p.Phe125=)
c.-4C>T (n.-4C>T)
c.381C>T (p.Phe127=)
c.114C>T (p.Phe38=)
c.261C>T (p.Phe87=)
n.320C>T
c.378C>T (p.Phe126=)
c.489C>T (p.Phe163=)
dbSNP gnomAD v2 gnomAD v4
19g.1105715G>ACA402937503GPX4c.493G>A (p.Asp165Asn)
c.301G>A (p.Asp101Asn)
c.376G>A (p.Asp126Asn)
c.-3G>A (n.-3G>A)
c.382G>A (p.Asp128Asn)
c.115G>A (p.Asp39Asn)
c.262G>A (p.Asp88Asn)
n.321G>A
c.379G>A (p.Asp127Asn)
c.490G>A (p.Asp164Asn)
dbSNP gnomAD v2 gnomAD v4
19g.1105715G>CCA402937504GPX4c.493G>C (p.Asp165His)
c.301G>C (p.Asp101His)
c.376G>C (p.Asp126His)
c.-3G>C (n.-3G>C)
c.382G>C (p.Asp128His)
c.115G>C (p.Asp39His)
c.262G>C (p.Asp88His)
n.321G>C
c.379G>C (p.Asp127His)
c.490G>C (p.Asp164His)
gnomAD v4
19g.1105715G=CA2317520101GPX4c.493G= (p.Asp165=)
c.301G= (p.Asp101=)
c.376G= (p.Asp126=)
c.-3G= (n.-3G=)
c.382G= (p.Asp128=)
c.115G= (p.Asp39=)
c.262G= (p.Asp88=)
n.321G=
c.379G= (p.Asp127=)
c.490G= (p.Asp164=)
19g.1105715G>TCA402937505GPX4c.493G>T (p.Asp165Tyr)
c.301G>T (p.Asp101Tyr)
c.376G>T (p.Asp126Tyr)
c.-3G>T (n.-3G>T)
c.382G>T (p.Asp128Tyr)
c.115G>T (p.Asp39Tyr)
c.262G>T (p.Asp88Tyr)
n.321G>T
c.379G>T (p.Asp127Tyr)
c.490G>T (p.Asp164Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1105716A=CA2317520102GPX4c.494A= (p.Asp165=)
c.302A= (p.Asp101=)
c.377A= (p.Asp126=)
c.-2A= (n.-2A=)
c.383A= (p.Asp128=)
c.116A= (p.Asp39=)
c.263A= (p.Asp88=)
n.322A=
c.380A= (p.Asp127=)
c.491A= (p.Asp164=)
19g.1105716A>CCA402937506GPX4c.494A>C (p.Asp165Ala)
c.302A>C (p.Asp101Ala)
c.377A>C (p.Asp126Ala)
c.-2A>C (n.-2A>C)
c.383A>C (p.Asp128Ala)
c.116A>C (p.Asp39Ala)
c.263A>C (p.Asp88Ala)
n.322A>C
c.380A>C (p.Asp127Ala)
c.491A>C (p.Asp164Ala)
19g.1105716A>GCA9037339GPX4c.494A>G (p.Asp165Gly)
c.302A>G (p.Asp101Gly)
c.377A>G (p.Asp126Gly)
c.-2A>G (n.-2A>G)
c.383A>G (p.Asp128Gly)
c.116A>G (p.Asp39Gly)
c.263A>G (p.Asp88Gly)
n.322A>G
c.380A>G (p.Asp127Gly)
c.491A>G (p.Asp164Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1105716A>TCA9037338GPX4c.494A>T (p.Asp165Val)
c.302A>T (p.Asp101Val)
c.377A>T (p.Asp126Val)
c.-2A>T (n.-2A>T)
c.383A>T (p.Asp128Val)
c.116A>T (p.Asp39Val)
c.263A>T (p.Asp88Val)
n.322A>T
c.380A>T (p.Asp127Val)
c.491A>T (p.Asp164Val)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1105717T>ACA402937508GPX4c.495T>A (p.Asp165Glu)
c.303T>A (p.Asp101Glu)
c.378T>A (p.Asp126Glu)
c.-1T>A (n.-1T>A)
c.384T>A (p.Asp128Glu)
c.117T>A (p.Asp39Glu)
c.264T>A (p.Asp88Glu)
n.323T>A
c.381T>A (p.Asp127Glu)
c.492T>A (p.Asp164Glu)
19g.1105717T>CCA9037340GPX4c.495T>C (p.Asp165=)
c.303T>C (p.Asp101=)
c.378T>C (p.Asp126=)
c.-1T>C (n.-1T>C)
c.384T>C (p.Asp128=)
c.117T>C (p.Asp39=)
c.264T>C (p.Asp88=)
n.323T>C
c.381T>C (p.Asp127=)
c.492T>C (p.Asp164=)
dbSNP ExAC gnomAD v2
19g.1105717T>GCA402937507GPX4c.495T>G (p.Asp165Glu)
c.303T>G (p.Asp101Glu)
c.378T>G (p.Asp126Glu)
c.-1T>G (n.-1T>G)
c.384T>G (p.Asp128Glu)
c.117T>G (p.Asp39Glu)
c.264T>G (p.Asp88Glu)
n.323T>G
c.381T>G (p.Asp127Glu)
c.492T>G (p.Asp164Glu)
19g.1105717T=CA2317520103GPX4c.495T= (p.Asp165=)
c.303T= (p.Asp101=)
c.378T= (p.Asp126=)
c.-1T= (n.-1T=)
c.384T= (p.Asp128=)
c.117T= (p.Asp39=)
c.264T= (p.Asp88=)
n.323T=
c.381T= (p.Asp127=)
c.492T= (p.Asp164=)
19g.1105718A=CA2317520104GPX4c.496A= (p.Met166=)
c.304A= (p.Met102=)
c.379A= (p.Met127=)
c.1A= (p.Met1=)
c.385A= (p.Met129=)
c.118A= (p.Met40=)
c.265A= (p.Met89=)
n.324A=
c.382A= (p.Met128=)
c.493A= (p.Met165=)
19g.1105718A>CCA402937509GPX4c.496A>C (p.Met166Leu)
c.304A>C (p.Met102Leu)
c.379A>C (p.Met127Leu)
c.1A>C (p.Met1Leu)
c.385A>C (p.Met129Leu)
c.118A>C (p.Met40Leu)
c.265A>C (p.Met89Leu)
n.324A>C
c.382A>C (p.Met128Leu)
c.493A>C (p.Met165Leu)
19g.1105718A>GCA9037341GPX4c.496A>G (p.Met166Val)
c.304A>G (p.Met102Val)
c.379A>G (p.Met127Val)
c.1A>G (p.Met1Val)
c.385A>G (p.Met129Val)
c.118A>G (p.Met40Val)
c.265A>G (p.Met89Val)
n.324A>G
c.382A>G (p.Met128Val)
c.493A>G (p.Met165Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.1105718A>TCA9037342GPX4c.496A>T (p.Met166Leu)
c.304A>T (p.Met102Leu)
c.379A>T (p.Met127Leu)
c.1A>T (p.Met1Leu)
c.385A>T (p.Met129Leu)
c.118A>T (p.Met40Leu)
c.265A>T (p.Met89Leu)
n.324A>T
c.382A>T (p.Met128Leu)
c.493A>T (p.Met165Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1105719T>ACA402937510GPX4c.497T>A (p.Met166Lys)
c.305T>A (p.Met102Lys)
c.380T>A (p.Met127Lys)
c.2T>A (p.Met1Lys)
c.386T>A (p.Met129Lys)
c.119T>A (p.Met40Lys)
c.266T>A (p.Met89Lys)
n.325T>A
c.383T>A (p.Met128Lys)
c.494T>A (p.Met165Lys)
gnomAD v4
19g.1105719T>CCA402937511GPX4c.497T>C (p.Met166Thr)
c.305T>C (p.Met102Thr)
c.380T>C (p.Met127Thr)
c.2T>C (p.Met1Thr)
c.386T>C (p.Met129Thr)
c.119T>C (p.Met40Thr)
c.266T>C (p.Met89Thr)
n.325T>C
c.383T>C (p.Met128Thr)
c.494T>C (p.Met165Thr)
dbSNP
19g.1105719T>GCA402937512GPX4c.497T>G (p.Met166Arg)
c.305T>G (p.Met102Arg)
c.380T>G (p.Met127Arg)
c.2T>G (p.Met1Arg)
c.386T>G (p.Met129Arg)
c.119T>G (p.Met40Arg)
c.266T>G (p.Met89Arg)
n.325T>G
c.383T>G (p.Met128Arg)
c.494T>G (p.Met165Arg)
19g.1105719T=CA2317520105GPX4c.497T= (p.Met166=)
c.305T= (p.Met102=)
c.380T= (p.Met127=)
c.2T= (p.Met1=)
c.386T= (p.Met129=)
c.119T= (p.Met40=)
c.266T= (p.Met89=)
n.325T=
c.383T= (p.Met128=)
c.494T= (p.Met165=)
19g.1105720G>ACA402937513GPX4c.498G>A (p.Met166Ile)
c.306G>A (p.Met102Ile)
c.381G>A (p.Met127Ile)
c.3G>A (p.Met1Ile)
c.387G>A (p.Met129Ile)
c.120G>A (p.Met40Ile)
c.267G>A (p.Met89Ile)
n.326G>A
c.384G>A (p.Met128Ile)
c.495G>A (p.Met165Ile)
19g.1105720G>CCA402937514GPX4c.498G>C (p.Met166Ile)
c.306G>C (p.Met102Ile)
c.381G>C (p.Met127Ile)
c.3G>C (p.Met1Ile)
c.387G>C (p.Met129Ile)
c.120G>C (p.Met40Ile)
c.267G>C (p.Met89Ile)
n.326G>C
c.384G>C (p.Met128Ile)
c.495G>C (p.Met165Ile)
19g.1105720G>TCA402937515GPX4c.498G>T (p.Met166Ile)
c.306G>T (p.Met102Ile)
c.381G>T (p.Met127Ile)
c.3G>T (p.Met1Ile)
c.387G>T (p.Met129Ile)
c.120G>T (p.Met40Ile)
c.267G>T (p.Met89Ile)
n.326G>T
c.384G>T (p.Met128Ile)
c.495G>T (p.Met165Ile)
gnomAD v4
19g.1105721T>ACA402937516GPX4c.499T>A (p.Phe167Ile)
c.307T>A (p.Phe103Ile)
c.382T>A (p.Phe128Ile)
c.4T>A (p.Phe2Ile)
c.388T>A (p.Phe130Ile)
c.121T>A (p.Phe41Ile)
c.268T>A (p.Phe90Ile)
n.327T>A
c.385T>A (p.Phe129Ile)
c.496T>A (p.Phe166Ile)
19g.1105721T>CCA402937517GPX4c.499T>C (p.Phe167Leu)
c.307T>C (p.Phe103Leu)
c.382T>C (p.Phe128Leu)
c.4T>C (p.Phe2Leu)
c.388T>C (p.Phe130Leu)
c.121T>C (p.Phe41Leu)
c.268T>C (p.Phe90Leu)
n.327T>C
c.385T>C (p.Phe129Leu)
c.496T>C (p.Phe166Leu)
19g.1105721T>GCA402937518GPX4c.499T>G (p.Phe167Val)
c.307T>G (p.Phe103Val)
c.382T>G (p.Phe128Val)
c.4T>G (p.Phe2Val)
c.388T>G (p.Phe130Val)
c.121T>G (p.Phe41Val)
c.268T>G (p.Phe90Val)
n.327T>G
c.385T>G (p.Phe129Val)
c.496T>G (p.Phe166Val)
19g.1105722T>ACA402937521GPX4c.500T>A (p.Phe167Tyr)
c.308T>A (p.Phe103Tyr)
c.383T>A (p.Phe128Tyr)
c.5T>A (p.Phe2Tyr)
c.389T>A (p.Phe130Tyr)
c.122T>A (p.Phe41Tyr)
c.269T>A (p.Phe90Tyr)
n.328T>A
c.386T>A (p.Phe129Tyr)
c.497T>A (p.Phe166Tyr)
19g.1105722T>CCA402937520GPX4c.500T>C (p.Phe167Ser)
c.308T>C (p.Phe103Ser)
c.383T>C (p.Phe128Ser)
c.5T>C (p.Phe2Ser)
c.389T>C (p.Phe130Ser)
c.122T>C (p.Phe41Ser)
c.269T>C (p.Phe90Ser)
n.328T>C
c.386T>C (p.Phe129Ser)
c.497T>C (p.Phe166Ser)
19g.1105722T>GCA402937519GPX4c.500T>G (p.Phe167Cys)
c.308T>G (p.Phe103Cys)
c.383T>G (p.Phe128Cys)
c.5T>G (p.Phe2Cys)
c.389T>G (p.Phe130Cys)
c.122T>G (p.Phe41Cys)
c.269T>G (p.Phe90Cys)
n.328T>G
c.386T>G (p.Phe129Cys)
c.497T>G (p.Phe166Cys)
19g.1105723C>ACA402937522GPX4c.501C>A (p.Phe167Leu)
c.309C>A (p.Phe103Leu)
c.384C>A (p.Phe128Leu)
c.6C>A (p.Phe2Leu)
c.390C>A (p.Phe130Leu)
c.123C>A (p.Phe41Leu)
c.270C>A (p.Phe90Leu)
n.329C>A
c.387C>A (p.Phe129Leu)
c.498C>A (p.Phe166Leu)
gnomAD v4
19g.1105723C=CA2317520106GPX4c.501C= (p.Phe167=)
c.309C= (p.Phe103=)
c.384C= (p.Phe128=)
c.6C= (p.Phe2=)
c.390C= (p.Phe130=)
c.123C= (p.Phe41=)
c.270C= (p.Phe90=)
n.329C=
c.387C= (p.Phe129=)
c.498C= (p.Phe166=)
19g.1105723C>GCA402937523GPX4c.501C>G (p.Phe167Leu)
c.309C>G (p.Phe103Leu)
c.384C>G (p.Phe128Leu)
c.6C>G (p.Phe2Leu)
c.390C>G (p.Phe130Leu)
c.123C>G (p.Phe41Leu)
c.270C>G (p.Phe90Leu)
n.329C>G
c.387C>G (p.Phe129Leu)
c.498C>G (p.Phe166Leu)
19g.1105723C>TCA504694595GPX4c.501C>T (p.Phe167=)
c.309C>T (p.Phe103=)
c.384C>T (p.Phe128=)
c.6C>T (p.Phe2=)
c.390C>T (p.Phe130=)
c.123C>T (p.Phe41=)
c.270C>T (p.Phe90=)
n.329C>T
c.387C>T (p.Phe129=)
c.498C>T (p.Phe166=)
dbSNP gnomAD v2 gnomAD v4
19g.1105725_1105727delCA2576545100GPX4c.503_505del (p.Ser168del)
c.311_313del (p.Ser104del)
c.386_388del (p.Ser129del)
c.8_10del (p.Ser3del)
c.392_394del (p.Ser131del)
c.125_127del (p.Ser42del)
c.272_274del (p.Ser91del)
n.331_333del
c.389_391del (p.Ser130del)
c.500_502del (p.Ser167del)
19g.1105724A=CA2317520107GPX4c.502A= (p.Ser168=)
c.310A= (p.Ser104=)
c.385A= (p.Ser129=)
c.7A= (p.Ser3=)
c.391A= (p.Ser131=)
c.124A= (p.Ser42=)
c.271A= (p.Ser91=)
n.330A=
c.388A= (p.Ser130=)
c.499A= (p.Ser167=)
19g.1105724A>CCA402937524GPX4c.502A>C (p.Ser168Arg)
c.310A>C (p.Ser104Arg)
c.385A>C (p.Ser129Arg)
c.7A>C (p.Ser3Arg)
c.391A>C (p.Ser131Arg)
c.124A>C (p.Ser42Arg)
c.271A>C (p.Ser91Arg)
n.330A>C
c.388A>C (p.Ser130Arg)
c.499A>C (p.Ser167Arg)
19g.1105724A>GCA9037343GPX4c.502A>G (p.Ser168Gly)
c.310A>G (p.Ser104Gly)
c.385A>G (p.Ser129Gly)
c.7A>G (p.Ser3Gly)
c.391A>G (p.Ser131Gly)
c.124A>G (p.Ser42Gly)
c.271A>G (p.Ser91Gly)
n.330A>G
c.388A>G (p.Ser130Gly)
c.499A>G (p.Ser167Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1105724A>TCA402937525GPX4c.502A>T (p.Ser168Cys)
c.310A>T (p.Ser104Cys)
c.385A>T (p.Ser129Cys)
c.7A>T (p.Ser3Cys)
c.391A>T (p.Ser131Cys)
c.124A>T (p.Ser42Cys)
c.271A>T (p.Ser91Cys)
n.330A>T
c.388A>T (p.Ser130Cys)
c.499A>T (p.Ser167Cys)
19g.1105725G>ACA402937526GPX4c.503G>A (p.Ser168Asn)
c.311G>A (p.Ser104Asn)
c.386G>A (p.Ser129Asn)
c.8G>A (p.Ser3Asn)
c.392G>A (p.Ser131Asn)
c.125G>A (p.Ser42Asn)
c.272G>A (p.Ser91Asn)
n.331G>A
c.389G>A (p.Ser130Asn)
c.500G>A (p.Ser167Asn)
19g.1105725G>CCA402937527GPX4c.503G>C (p.Ser168Thr)
c.311G>C (p.Ser104Thr)
c.386G>C (p.Ser129Thr)
c.8G>C (p.Ser3Thr)
c.392G>C (p.Ser131Thr)
c.125G>C (p.Ser42Thr)
c.272G>C (p.Ser91Thr)
n.331G>C
c.389G>C (p.Ser130Thr)
c.500G>C (p.Ser167Thr)
19g.1105725G>TCA402937528GPX4c.503G>T (p.Ser168Ile)
c.311G>T (p.Ser104Ile)
c.386G>T (p.Ser129Ile)
c.8G>T (p.Ser3Ile)
c.392G>T (p.Ser131Ile)
c.125G>T (p.Ser42Ile)
c.272G>T (p.Ser91Ile)
n.331G>T
c.389G>T (p.Ser130Ile)
c.500G>T (p.Ser167Ile)
19g.1105726C>ACA402937529GPX4c.504C>A (p.Ser168Arg)
c.312C>A (p.Ser104Arg)
c.387C>A (p.Ser129Arg)
c.9C>A (p.Ser3Arg)
c.393C>A (p.Ser131Arg)
c.126C>A (p.Ser42Arg)
c.273C>A (p.Ser91Arg)
n.332C>A
c.390C>A (p.Ser130Arg)
c.501C>A (p.Ser167Arg)
19g.1105726C>GCA402937530GPX4c.504C>G (p.Ser168Arg)
c.312C>G (p.Ser104Arg)
c.387C>G (p.Ser129Arg)
c.9C>G (p.Ser3Arg)
c.393C>G (p.Ser131Arg)
c.126C>G (p.Ser42Arg)
c.273C>G (p.Ser91Arg)
n.332C>G
c.390C>G (p.Ser130Arg)
c.501C>G (p.Ser167Arg)
gnomAD v4
19g.1105726C>TCA504694598GPX4c.504C>T (p.Ser168=)
c.312C>T (p.Ser104=)
c.387C>T (p.Ser129=)
c.9C>T (p.Ser3=)
c.393C>T (p.Ser131=)
c.126C>T (p.Ser42=)
c.273C>T (p.Ser91=)
n.332C>T
c.390C>T (p.Ser130=)
c.501C>T (p.Ser167=)
gnomAD v4
19g.1105727A>CCA402937531GPX4c.505A>C (p.Lys169Gln)
c.313A>C (p.Lys105Gln)
c.388A>C (p.Lys130Gln)
c.10A>C (p.Lys4Gln)
c.394A>C (p.Lys132Gln)
c.127A>C (p.Lys43Gln)
c.274A>C (p.Lys92Gln)
n.333A>C
c.391A>C (p.Lys131Gln)
c.502A>C (p.Lys168Gln)
19g.1105727A>GCA402937532GPX4c.505A>G (p.Lys169Glu)
c.313A>G (p.Lys105Glu)
c.388A>G (p.Lys130Glu)
c.10A>G (p.Lys4Glu)
c.394A>G (p.Lys132Glu)
c.127A>G (p.Lys43Glu)
c.274A>G (p.Lys92Glu)
n.333A>G
c.391A>G (p.Lys131Glu)
c.502A>G (p.Lys168Glu)
19g.1105727A>TCA402937533GPX4c.505A>T (p.Lys169Ter)
c.313A>T (p.Lys105Ter)
c.388A>T (p.Lys130Ter)
c.10A>T (p.Lys4Ter)
c.394A>T (p.Lys132Ter)
c.127A>T (p.Lys43Ter)
c.274A>T (p.Lys92Ter)
n.333A>T
c.391A>T (p.Lys131Ter)
c.502A>T (p.Lys168Ter)
19g.1105728A>CCA402937534GPX4c.506A>C (p.Lys169Thr)
c.314A>C (p.Lys105Thr)
c.389A>C (p.Lys130Thr)
c.11A>C (p.Lys4Thr)
c.395A>C (p.Lys132Thr)
c.128A>C (p.Lys43Thr)
c.275A>C (p.Lys92Thr)
n.334A>C
c.392A>C (p.Lys131Thr)
c.503A>C (p.Lys168Thr)
19g.1105728A>GCA402937535GPX4c.506A>G (p.Lys169Arg)
c.314A>G (p.Lys105Arg)
c.389A>G (p.Lys130Arg)
c.11A>G (p.Lys4Arg)
c.395A>G (p.Lys132Arg)
c.128A>G (p.Lys43Arg)
c.275A>G (p.Lys92Arg)
n.334A>G
c.392A>G (p.Lys131Arg)
c.503A>G (p.Lys168Arg)
19g.1105728A>TCA402937536GPX4c.506A>T (p.Lys169Met)
c.314A>T (p.Lys105Met)
c.389A>T (p.Lys130Met)
c.11A>T (p.Lys4Met)
c.395A>T (p.Lys132Met)
c.128A>T (p.Lys43Met)
c.275A>T (p.Lys92Met)
n.334A>T
c.392A>T (p.Lys131Met)
c.503A>T (p.Lys168Met)
19g.1105729G>ACA504694599GPX4c.507G>A (p.Lys169=)
c.315G>A (p.Lys105=)
c.390G>A (p.Lys130=)
c.12G>A (p.Lys4=)
c.396G>A (p.Lys132=)
c.129G>A (p.Lys43=)
c.276G>A (p.Lys92=)
n.335G>A
c.393G>A (p.Lys131=)
c.504G>A (p.Lys168=)
19g.1105729G>CCA303993932GPX4c.507G>C (p.Lys169Asn)
c.315G>C (p.Lys105Asn)
c.390G>C (p.Lys130Asn)
c.12G>C (p.Lys4Asn)
c.396G>C (p.Lys132Asn)
c.129G>C (p.Lys43Asn)
c.276G>C (p.Lys92Asn)
n.335G>C
c.393G>C (p.Lys131Asn)
c.504G>C (p.Lys168Asn)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.1105729G=CA2317520108GPX4c.507G= (p.Lys169=)
c.315G= (p.Lys105=)
c.390G= (p.Lys130=)
c.12G= (p.Lys4=)
c.396G= (p.Lys132=)
c.129G= (p.Lys43=)
c.276G= (p.Lys92=)
n.335G=
c.393G= (p.Lys131=)
c.504G= (p.Lys168=)
19g.1105729G>TCA402937537GPX4c.507G>T (p.Lys169Asn)
c.315G>T (p.Lys105Asn)
c.390G>T (p.Lys130Asn)
c.12G>T (p.Lys4Asn)
c.396G>T (p.Lys132Asn)
c.129G>T (p.Lys43Asn)
c.276G>T (p.Lys92Asn)
n.335G>T
c.393G>T (p.Lys131Asn)
c.504G>T (p.Lys168Asn)
19g.1105730A>CCA402937538GPX4c.508A>C (p.Ile170Leu)
c.316A>C (p.Ile106Leu)
c.391A>C (p.Ile131Leu)
c.13A>C (p.Ile5Leu)
c.397A>C (p.Ile133Leu)
c.130A>C (p.Ile44Leu)
c.277A>C (p.Ile93Leu)
n.336A>C
c.394A>C (p.Ile132Leu)
c.505A>C (p.Ile169Leu)
19g.1105730A>GCA402937539GPX4c.508A>G (p.Ile170Val)
c.316A>G (p.Ile106Val)
c.391A>G (p.Ile131Val)
c.13A>G (p.Ile5Val)
c.397A>G (p.Ile133Val)
c.130A>G (p.Ile44Val)
c.277A>G (p.Ile93Val)
n.336A>G
c.394A>G (p.Ile132Val)
c.505A>G (p.Ile169Val)
19g.1105730A>TCA402937540GPX4c.508A>T (p.Ile170Phe)
c.316A>T (p.Ile106Phe)
c.391A>T (p.Ile131Phe)
c.13A>T (p.Ile5Phe)
c.397A>T (p.Ile133Phe)
c.130A>T (p.Ile44Phe)
c.277A>T (p.Ile93Phe)
n.336A>T
c.394A>T (p.Ile132Phe)
c.505A>T (p.Ile169Phe)
gnomAD v4
19g.1105731T>ACA402937541GPX4c.509T>A (p.Ile170Asn)
c.317T>A (p.Ile106Asn)
c.392T>A (p.Ile131Asn)
c.14T>A (p.Ile5Asn)
c.398T>A (p.Ile133Asn)
c.131T>A (p.Ile44Asn)
c.278T>A (p.Ile93Asn)
n.337T>A
c.395T>A (p.Ile132Asn)
c.506T>A (p.Ile169Asn)
19g.1105731T>CCA9037344GPX4c.509T>C (p.Ile170Thr)
c.317T>C (p.Ile106Thr)
c.392T>C (p.Ile131Thr)
c.14T>C (p.Ile5Thr)
c.398T>C (p.Ile133Thr)
c.131T>C (p.Ile44Thr)
c.278T>C (p.Ile93Thr)
n.337T>C
c.395T>C (p.Ile132Thr)
c.506T>C (p.Ile169Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1105731T>GCA402937542GPX4c.509T>G (p.Ile170Ser)
c.317T>G (p.Ile106Ser)
c.392T>G (p.Ile131Ser)
c.14T>G (p.Ile5Ser)
c.398T>G (p.Ile133Ser)
c.131T>G (p.Ile44Ser)
c.278T>G (p.Ile93Ser)
n.337T>G
c.395T>G (p.Ile132Ser)
c.506T>G (p.Ile169Ser)
19g.1105731T=CA2317520109GPX4c.509T= (p.Ile170=)
c.317T= (p.Ile106=)
c.392T= (p.Ile131=)
c.14T= (p.Ile5=)
c.398T= (p.Ile133=)
c.131T= (p.Ile44=)
c.278T= (p.Ile93=)
n.337T=
c.395T= (p.Ile132=)
c.506T= (p.Ile169=)
19g.1105732C>ACA504694601GPX4c.510C>A (p.Ile170=)
c.318C>A (p.Ile106=)
c.393C>A (p.Ile131=)
c.15C>A (p.Ile5=)
c.399C>A (p.Ile133=)
c.132C>A (p.Ile44=)
c.279C>A (p.Ile93=)
n.338C>A
c.396C>A (p.Ile132=)
c.507C>A (p.Ile169=)
19g.1105732C=CA2317520110GPX4c.510C= (p.Ile170=)
c.318C= (p.Ile106=)
c.393C= (p.Ile131=)
c.15C= (p.Ile5=)
c.399C= (p.Ile133=)
c.132C= (p.Ile44=)
c.279C= (p.Ile93=)
n.338C=
c.396C= (p.Ile132=)
c.507C= (p.Ile169=)
19g.1105732C>GCA402937543GPX4c.510C>G (p.Ile170Met)
c.318C>G (p.Ile106Met)
c.393C>G (p.Ile131Met)
c.15C>G (p.Ile5Met)
c.399C>G (p.Ile133Met)
c.132C>G (p.Ile44Met)
c.279C>G (p.Ile93Met)
n.338C>G
c.396C>G (p.Ile132Met)
c.507C>G (p.Ile169Met)
gnomAD v4
19g.1105732C>TCA9037345GPX4c.510C>T (p.Ile170=)
c.318C>T (p.Ile106=)
c.393C>T (p.Ile131=)
c.15C>T (p.Ile5=)
c.399C>T (p.Ile133=)
c.132C>T (p.Ile44=)
c.279C>T (p.Ile93=)
n.338C>T
c.396C>T (p.Ile132=)
c.507C>T (p.Ile169=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.1105733T>ACA402937544GPX4c.511T>A (p.Cys171Ser)
c.319T>A (p.Cys107Ser)
c.394T>A (p.Cys132Ser)
c.16T>A (p.Cys6Ser)
c.400T>A (p.Cys134Ser)
c.133T>A (p.Cys45Ser)
c.280T>A (p.Cys94Ser)
n.339T>A
c.397T>A (p.Cys133Ser)
c.508T>A (p.Cys170Ser)
19g.1105733T>CCA402937545GPX4c.511T>C (p.Cys171Arg)
c.319T>C (p.Cys107Arg)
c.394T>C (p.Cys132Arg)
c.16T>C (p.Cys6Arg)
c.400T>C (p.Cys134Arg)
c.133T>C (p.Cys45Arg)
c.280T>C (p.Cys94Arg)
n.339T>C
c.397T>C (p.Cys133Arg)
c.508T>C (p.Cys170Arg)
19g.1105733T>GCA402937546GPX4c.511T>G (p.Cys171Gly)
c.319T>G (p.Cys107Gly)
c.394T>G (p.Cys132Gly)
c.16T>G (p.Cys6Gly)
c.400T>G (p.Cys134Gly)
c.133T>G (p.Cys45Gly)
c.280T>G (p.Cys94Gly)
n.339T>G
c.397T>G (p.Cys133Gly)
c.508T>G (p.Cys170Gly)
19g.1105734G>ACA402937549GPX4c.512G>A (p.Cys171Tyr)
c.320G>A (p.Cys107Tyr)
c.395G>A (p.Cys132Tyr)
c.17G>A (p.Cys6Tyr)
c.401G>A (p.Cys134Tyr)
c.134G>A (p.Cys45Tyr)
c.281G>A (p.Cys94Tyr)
n.340G>A
c.398G>A (p.Cys133Tyr)
c.509G>A (p.Cys170Tyr)
19g.1105734G>CCA402937548GPX4c.512G>C (p.Cys171Ser)
c.320G>C (p.Cys107Ser)
c.395G>C (p.Cys132Ser)
c.17G>C (p.Cys6Ser)
c.401G>C (p.Cys134Ser)
c.134G>C (p.Cys45Ser)
c.281G>C (p.Cys94Ser)
n.340G>C
c.398G>C (p.Cys133Ser)
c.509G>C (p.Cys170Ser)
19g.1105734G>TCA402937547GPX4c.512G>T (p.Cys171Phe)
c.320G>T (p.Cys107Phe)
c.395G>T (p.Cys132Phe)
c.17G>T (p.Cys6Phe)
c.401G>T (p.Cys134Phe)
c.134G>T (p.Cys45Phe)
c.281G>T (p.Cys94Phe)
n.340G>T
c.398G>T (p.Cys133Phe)
c.509G>T (p.Cys170Phe)
19g.1105734_1105740delinsGCGTGAACA2317520111GPX4c.512_518delinsGCGTGAA (p.Cys171=)
c.320_326delinsGCGTGAA (p.Cys107=)
c.395_401delinsGCGTGAA (p.Cys132=)
c.17_23delinsGCGTGAA (p.Cys6=)
c.401_407delinsGCGTGAA (p.Cys134=)
c.134_140delinsGCGTGAA (p.Cys45=)
c.281_287delinsGCGTGAA (p.Cys94=)
n.340_346delinsGCGTGAA
c.398_404delinsGCGTGAA (p.Cys133=)
c.509_515delinsGCGTGAA (p.Cys170=)
19g.1105735C>ACA402937550GPX4c.513C>A (p.Cys171Ter)
c.321C>A (p.Cys107Ter)
c.396C>A (p.Cys132Ter)
c.18C>A (p.Cys6Ter)
c.402C>A (p.Cys134Ter)
c.135C>A (p.Cys45Ter)
c.282C>A (p.Cys94Ter)
n.341C>A
c.399C>A (p.Cys133Ter)
c.510C>A (p.Cys170Ter)
dbSNP gnomAD v2 gnomAD v4
19g.1105735C=CA2317520112GPX4c.513C= (p.Cys171=)
c.321C= (p.Cys107=)
c.396C= (p.Cys132=)
c.18C= (p.Cys6=)
c.402C= (p.Cys134=)
c.135C= (p.Cys45=)
c.282C= (p.Cys94=)
n.341C=
c.399C= (p.Cys133=)
c.510C= (p.Cys170=)
19g.1105735C>GCA402937551GPX4c.513C>G (p.Cys171Trp)
c.321C>G (p.Cys107Trp)
c.396C>G (p.Cys132Trp)
c.18C>G (p.Cys6Trp)
c.402C>G (p.Cys134Trp)
c.135C>G (p.Cys45Trp)
c.282C>G (p.Cys94Trp)
n.341C>G
c.399C>G (p.Cys133Trp)
c.510C>G (p.Cys170Trp)
19g.1105735C>TCA9037346GPX4c.513C>T (p.Cys171=)
c.321C>T (p.Cys107=)
c.396C>T (p.Cys132=)
c.18C>T (p.Cys6=)
c.402C>T (p.Cys134=)
c.135C>T (p.Cys45=)
c.282C>T (p.Cys94=)
n.341C>T
c.399C>T (p.Cys133=)
c.510C>T (p.Cys170=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.1105737_1105742delCA631018784GPX4c.515_520del (p.Val172_Asn173del)
c.323_328del (p.Val108_Asn109del)
c.398_403del (p.Val133_Asn134del)
c.20_25del (p.Val7_Asn8del)
c.404_409del (p.Val135_Asn136del)
c.137_142del (p.Val46_Asn47del)
c.284_289del (p.Val95_Asn96del)
n.343_348del
c.401_406del (p.Val134_Asn135del)
c.512_517del (p.Val171_Asn172del)
dbSNP gnomAD v2 gnomAD v4
19g.1105736G>ACA402937552GPX4c.514G>A (p.Val172Met)
c.322G>A (p.Val108Met)
c.397G>A (p.Val133Met)
c.19G>A (p.Val7Met)
c.403G>A (p.Val135Met)
c.136G>A (p.Val46Met)
c.283G>A (p.Val95Met)
n.342G>A
c.400G>A (p.Val134Met)
c.511G>A (p.Val171Met)
dbSNP gnomAD v3 gnomAD v4
19g.1105736G>CCA402937553GPX4c.514G>C (p.Val172Leu)
c.322G>C (p.Val108Leu)
c.397G>C (p.Val133Leu)
c.19G>C (p.Val7Leu)
c.403G>C (p.Val135Leu)
c.136G>C (p.Val46Leu)
c.283G>C (p.Val95Leu)
n.342G>C
c.400G>C (p.Val134Leu)
c.511G>C (p.Val171Leu)
gnomAD v4
19g.1105736G=CA2317520113GPX4c.514G= (p.Val172=)
c.322G= (p.Val108=)
c.397G= (p.Val133=)
c.19G= (p.Val7=)
c.403G= (p.Val135=)
c.136G= (p.Val46=)
c.283G= (p.Val95=)
n.342G=
c.400G= (p.Val134=)
c.511G= (p.Val171=)
19g.1105736G>TCA402937554GPX4c.514G>T (p.Val172Leu)
c.322G>T (p.Val108Leu)
c.397G>T (p.Val133Leu)
c.19G>T (p.Val7Leu)
c.403G>T (p.Val135Leu)
c.136G>T (p.Val46Leu)
c.283G>T (p.Val95Leu)
n.342G>T
c.400G>T (p.Val134Leu)
c.511G>T (p.Val171Leu)
19g.1105737T>ACA402937555GPX4c.515T>A (p.Val172Glu)
c.323T>A (p.Val108Glu)
c.398T>A (p.Val133Glu)
c.20T>A (p.Val7Glu)
c.404T>A (p.Val135Glu)
c.137T>A (p.Val46Glu)
c.284T>A (p.Val95Glu)
n.343T>A
c.401T>A (p.Val134Glu)
c.512T>A (p.Val171Glu)
19g.1105737T>CCA402937556GPX4c.515T>C (p.Val172Ala)
c.323T>C (p.Val108Ala)
c.398T>C (p.Val133Ala)
c.20T>C (p.Val7Ala)
c.404T>C (p.Val135Ala)
c.137T>C (p.Val46Ala)
c.284T>C (p.Val95Ala)
n.343T>C
c.401T>C (p.Val134Ala)
c.512T>C (p.Val171Ala)
19g.1105737T>GCA402937557GPX4c.515T>G (p.Val172Gly)
c.323T>G (p.Val108Gly)
c.398T>G (p.Val133Gly)
c.20T>G (p.Val7Gly)
c.404T>G (p.Val135Gly)
c.137T>G (p.Val46Gly)
c.284T>G (p.Val95Gly)
n.343T>G
c.401T>G (p.Val134Gly)
c.512T>G (p.Val171Gly)
19g.1105738G>ACA504694605GPX4c.516G>A (p.Val172=)
c.324G>A (p.Val108=)
c.399G>A (p.Val133=)
c.21G>A (p.Val7=)
c.405G>A (p.Val135=)
c.138G>A (p.Val46=)
c.285G>A (p.Val95=)
n.344G>A
c.402G>A (p.Val134=)
c.513G>A (p.Val171=)
19g.1105738G>CCA504694608GPX4c.516G>C (p.Val172=)
c.324G>C (p.Val108=)
c.399G>C (p.Val133=)
c.21G>C (p.Val7=)
c.405G>C (p.Val135=)
c.138G>C (p.Val46=)
c.285G>C (p.Val95=)
n.344G>C
c.402G>C (p.Val134=)
c.513G>C (p.Val171=)
gnomAD v4
19g.1105738G>TCA504694606GPX4c.516G>T (p.Val172=)
c.324G>T (p.Val108=)
c.399G>T (p.Val133=)
c.21G>T (p.Val7=)
c.405G>T (p.Val135=)
c.138G>T (p.Val46=)
c.285G>T (p.Val95=)
n.344G>T
c.402G>T (p.Val134=)
c.513G>T (p.Val171=)
19g.1105739A>CCA402937558GPX4c.517A>C (p.Asn173His)
c.325A>C (p.Asn109His)
c.400A>C (p.Asn134His)
c.22A>C (p.Asn8His)
c.406A>C (p.Asn136His)
c.139A>C (p.Asn47His)
c.286A>C (p.Asn96His)
n.345A>C
c.403A>C (p.Asn135His)
c.514A>C (p.Asn172His)
19g.1105739A>GCA402937559GPX4c.517A>G (p.Asn173Asp)
c.325A>G (p.Asn109Asp)
c.400A>G (p.Asn134Asp)
c.22A>G (p.Asn8Asp)
c.406A>G (p.Asn136Asp)
c.139A>G (p.Asn47Asp)
c.286A>G (p.Asn96Asp)
n.345A>G
c.403A>G (p.Asn135Asp)
c.514A>G (p.Asn172Asp)
19g.1105739A>TCA402937560GPX4c.517A>T (p.Asn173Tyr)
c.325A>T (p.Asn109Tyr)
c.400A>T (p.Asn134Tyr)
c.22A>T (p.Asn8Tyr)
c.406A>T (p.Asn136Tyr)
c.139A>T (p.Asn47Tyr)
c.286A>T (p.Asn96Tyr)
n.345A>T
c.403A>T (p.Asn135Tyr)
c.514A>T (p.Asn172Tyr)
19g.1105740A>CCA402937563GPX4c.518A>C (p.Asn173Thr)
c.326A>C (p.Asn109Thr)
c.401A>C (p.Asn134Thr)
c.23A>C (p.Asn8Thr)
c.407A>C (p.Asn136Thr)
c.140A>C (p.Asn47Thr)
c.287A>C (p.Asn96Thr)
n.346A>C
c.404A>C (p.Asn135Thr)
c.515A>C (p.Asn172Thr)
19g.1105740A>GCA402937562GPX4c.518A>G (p.Asn173Ser)
c.326A>G (p.Asn109Ser)
c.401A>G (p.Asn134Ser)
c.23A>G (p.Asn8Ser)
c.407A>G (p.Asn136Ser)
c.140A>G (p.Asn47Ser)
c.287A>G (p.Asn96Ser)
n.346A>G
c.404A>G (p.Asn135Ser)
c.515A>G (p.Asn172Ser)
19g.1105740A>TCA402937561GPX4c.518A>T (p.Asn173Ile)
c.326A>T (p.Asn109Ile)
c.401A>T (p.Asn134Ile)
c.23A>T (p.Asn8Ile)
c.407A>T (p.Asn136Ile)
c.140A>T (p.Asn47Ile)
c.287A>T (p.Asn96Ile)
n.346A>T
c.404A>T (p.Asn135Ile)
c.515A>T (p.Asn172Ile)
19g.1105741C>ACA402937564GPX4c.519C>A (p.Asn173Lys)
c.327C>A (p.Asn109Lys)
c.402C>A (p.Asn134Lys)
c.24C>A (p.Asn8Lys)
c.408C>A (p.Asn136Lys)
c.141C>A (p.Asn47Lys)
c.288C>A (p.Asn96Lys)
n.347C>A
c.405C>A (p.Asn135Lys)
c.516C>A (p.Asn172Lys)
19g.1105741C=CA2317520114GPX4c.519C= (p.Asn173=)
c.327C= (p.Asn109=)
c.402C= (p.Asn134=)
c.24C= (p.Asn8=)
c.408C= (p.Asn136=)
c.141C= (p.Asn47=)
c.288C= (p.Asn96=)
n.347C=
c.405C= (p.Asn135=)
c.516C= (p.Asn172=)
19g.1105741C>GCA402937565GPX4c.519C>G (p.Asn173Lys)
c.327C>G (p.Asn109Lys)
c.402C>G (p.Asn134Lys)
c.24C>G (p.Asn8Lys)
c.408C>G (p.Asn136Lys)
c.141C>G (p.Asn47Lys)
c.288C>G (p.Asn96Lys)
n.347C>G
c.405C>G (p.Asn135Lys)
c.516C>G (p.Asn172Lys)
19g.1105741C>TCA9037347GPX4c.519C>T (p.Asn173=)
c.327C>T (p.Asn109=)
c.402C>T (p.Asn134=)
c.24C>T (p.Asn8=)
c.408C>T (p.Asn136=)
c.141C>T (p.Asn47=)
c.288C>T (p.Asn96=)
n.347C>T
c.405C>T (p.Asn135=)
c.516C>T (p.Asn172=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1105742G>ACA9037348GPX4c.520G>A (p.Gly174Arg)
c.328G>A (p.Gly110Arg)
c.403G>A (p.Gly135Arg)
c.25G>A (p.Gly9Arg)
c.409G>A (p.Gly137Arg)
c.142G>A (p.Gly48Arg)
c.289G>A (p.Gly97Arg)
n.348G>A
c.406G>A (p.Gly136Arg)
c.517G>A (p.Gly173Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.1105742G>CCA402937566GPX4c.520G>C (p.Gly174Arg)
c.328G>C (p.Gly110Arg)
c.403G>C (p.Gly135Arg)
c.25G>C (p.Gly9Arg)
c.409G>C (p.Gly137Arg)
c.142G>C (p.Gly48Arg)
c.289G>C (p.Gly97Arg)
n.348G>C
c.406G>C (p.Gly136Arg)
c.517G>C (p.Gly173Arg)
dbSNP
19g.1105742G=CA2317520115GPX4c.520G= (p.Gly174=)
c.328G= (p.Gly110=)
c.403G= (p.Gly135=)
c.25G= (p.Gly9=)
c.409G= (p.Gly137=)
c.142G= (p.Gly48=)
c.289G= (p.Gly97=)
n.348G=
c.406G= (p.Gly136=)
c.517G= (p.Gly173=)
19g.1105742G>TCA402937567GPX4c.520G>T (p.Gly174Trp)
c.328G>T (p.Gly110Trp)
c.403G>T (p.Gly135Trp)
c.25G>T (p.Gly9Trp)
c.409G>T (p.Gly137Trp)
c.142G>T (p.Gly48Trp)
c.289G>T (p.Gly97Trp)
n.348G>T
c.406G>T (p.Gly136Trp)
c.517G>T (p.Gly173Trp)
19g.1105745delCA2588207175GPX4c.523del (p.Asp175ThrfsTer10)
c.331del (p.Asp111ThrfsTer10)
c.406del (p.Asp136ThrfsTer10)
c.28del (p.Asp10ThrfsTer10)
c.412del (p.Asp138ThrfsTer10)
c.523del (p.Asp175ThrfsTer?)
c.145del (p.Asp49ThrfsTer10)
c.292del (p.Asp98ThrfsTer10)
n.351del
c.409del (p.Asp137ThrfsTer10)
c.520del (p.Asp174ThrfsTer10)
gnomAD v4
19g.1105743G>ACA9037349GPX4c.521G>A (p.Gly174Glu)
c.329G>A (p.Gly110Glu)
c.404G>A (p.Gly135Glu)
c.26G>A (p.Gly9Glu)
c.410G>A (p.Gly137Glu)
c.143G>A (p.Gly48Glu)
c.290G>A (p.Gly97Glu)
n.349G>A
c.407G>A (p.Gly136Glu)
c.518G>A (p.Gly173Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1105743G>CCA402937568GPX4c.521G>C (p.Gly174Ala)
c.329G>C (p.Gly110Ala)
c.404G>C (p.Gly135Ala)
c.26G>C (p.Gly9Ala)
c.410G>C (p.Gly137Ala)
c.143G>C (p.Gly48Ala)
c.290G>C (p.Gly97Ala)
n.349G>C
c.407G>C (p.Gly136Ala)
c.518G>C (p.Gly173Ala)
19g.1105743G=CA2317520116GPX4c.521G= (p.Gly174=)
c.329G= (p.Gly110=)
c.404G= (p.Gly135=)
c.26G= (p.Gly9=)
c.410G= (p.Gly137=)
c.143G= (p.Gly48=)
c.290G= (p.Gly97=)
n.349G=
c.407G= (p.Gly136=)
c.518G= (p.Gly173=)
19g.1105743G>TCA402937569GPX4c.521G>T (p.Gly174Val)
c.329G>T (p.Gly110Val)
c.404G>T (p.Gly135Val)
c.26G>T (p.Gly9Val)
c.410G>T (p.Gly137Val)
c.143G>T (p.Gly48Val)
c.290G>T (p.Gly97Val)
n.349G>T
c.407G>T (p.Gly136Val)
c.518G>T (p.Gly173Val)
19g.1105744G>ACA504694611GPX4c.522G>A (p.Gly174=)
c.330G>A (p.Gly110=)
c.405G>A (p.Gly135=)
c.27G>A (p.Gly9=)
c.411G>A (p.Gly137=)
c.144G>A (p.Gly48=)
c.291G>A (p.Gly97=)
n.350G>A
c.408G>A (p.Gly136=)
c.519G>A (p.Gly173=)
19g.1105744G>CCA9037350GPX4c.522G>C (p.Gly174=)
c.330G>C (p.Gly110=)
c.405G>C (p.Gly135=)
c.27G>C (p.Gly9=)
c.411G>C (p.Gly137=)
c.144G>C (p.Gly48=)
c.291G>C (p.Gly97=)
n.350G>C
c.408G>C (p.Gly136=)
c.519G>C (p.Gly173=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1105744G=CA2317520117GPX4c.522G= (p.Gly174=)
c.330G= (p.Gly110=)
c.405G= (p.Gly135=)
c.27G= (p.Gly9=)
c.411G= (p.Gly137=)
c.144G= (p.Gly48=)
c.291G= (p.Gly97=)
n.350G=
c.408G= (p.Gly136=)
c.519G= (p.Gly173=)
19g.1105744G>TCA504694612GPX4c.522G>T (p.Gly174=)
c.330G>T (p.Gly110=)
c.405G>T (p.Gly135=)
c.27G>T (p.Gly9=)
c.411G>T (p.Gly137=)
c.144G>T (p.Gly48=)
c.291G>T (p.Gly97=)
n.350G>T
c.408G>T (p.Gly136=)
c.519G>T (p.Gly173=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.1105745G>ACA402937570GPX4c.523G>A (p.Asp175Asn)
c.331G>A (p.Asp111Asn)
c.406G>A (p.Asp136Asn)
c.28G>A (p.Asp10Asn)
c.412G>A (p.Asp138Asn)
c.145G>A (p.Asp49Asn)
c.292G>A (p.Asp98Asn)
n.351G>A
c.409G>A (p.Asp137Asn)
c.520G>A (p.Asp174Asn)
19g.1105745G>CCA402937571GPX4c.523G>C (p.Asp175His)
c.331G>C (p.Asp111His)
c.406G>C (p.Asp136His)
c.28G>C (p.Asp10His)
c.412G>C (p.Asp138His)
c.145G>C (p.Asp49His)
c.292G>C (p.Asp98His)
n.351G>C
c.409G>C (p.Asp137His)
c.520G>C (p.Asp174His)
19g.1105745G=CA2317520118GPX4c.523G= (p.Asp175=)
c.331G= (p.Asp111=)
c.406G= (p.Asp136=)
c.28G= (p.Asp10=)
c.412G= (p.Asp138=)
c.145G= (p.Asp49=)
c.292G= (p.Asp98=)
n.351G=
c.409G= (p.Asp137=)
c.520G= (p.Asp174=)
19g.1105745G>TCA402937572GPX4c.523G>T (p.Asp175Tyr)
c.331G>T (p.Asp111Tyr)
c.406G>T (p.Asp136Tyr)
c.28G>T (p.Asp10Tyr)
c.412G>T (p.Asp138Tyr)
c.145G>T (p.Asp49Tyr)
c.292G>T (p.Asp98Tyr)
n.351G>T
c.409G>T (p.Asp137Tyr)
c.520G>T (p.Asp174Tyr)
dbSNP gnomAD v2 gnomAD v4
19g.1105746A=CA2317520119GPX4c.524A= (p.Asp175=)
c.332A= (p.Asp111=)
c.407A= (p.Asp136=)
c.29A= (p.Asp10=)
c.413A= (p.Asp138=)
c.146A= (p.Asp49=)
c.293A= (p.Asp98=)
n.352A=
c.410A= (p.Asp137=)
c.521A= (p.Asp174=)
19g.1105746A>CCA402937574GPX4c.524A>C (p.Asp175Ala)
c.332A>C (p.Asp111Ala)
c.407A>C (p.Asp136Ala)
c.29A>C (p.Asp10Ala)
c.413A>C (p.Asp138Ala)
c.146A>C (p.Asp49Ala)
c.293A>C (p.Asp98Ala)
n.352A>C
c.410A>C (p.Asp137Ala)
c.521A>C (p.Asp174Ala)
19g.1105746A>GCA9037351GPX4c.524A>G (p.Asp175Gly)
c.332A>G (p.Asp111Gly)
c.407A>G (p.Asp136Gly)
c.29A>G (p.Asp10Gly)
c.413A>G (p.Asp138Gly)
c.146A>G (p.Asp49Gly)
c.293A>G (p.Asp98Gly)
n.352A>G
c.410A>G (p.Asp137Gly)
c.521A>G (p.Asp174Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1105746A>TCA402937573GPX4c.524A>T (p.Asp175Val)
c.332A>T (p.Asp111Val)
c.407A>T (p.Asp136Val)
c.29A>T (p.Asp10Val)
c.413A>T (p.Asp138Val)
c.146A>T (p.Asp49Val)
c.293A>T (p.Asp98Val)
n.352A>T
c.410A>T (p.Asp137Val)
c.521A>T (p.Asp174Val)
19g.1105747C>ACA402937575GPX4c.525C>A (p.Asp175Glu)
c.333C>A (p.Asp111Glu)
c.408C>A (p.Asp136Glu)
c.30C>A (p.Asp10Glu)
c.414C>A (p.Asp138Glu)
c.147C>A (p.Asp49Glu)
c.294C>A (p.Asp98Glu)
n.353C>A
c.411C>A (p.Asp137Glu)
c.522C>A (p.Asp174Glu)
gnomAD v4
19g.1105747C=CA2317520120GPX4c.525C= (p.Asp175=)
c.333C= (p.Asp111=)
c.408C= (p.Asp136=)
c.30C= (p.Asp10=)
c.414C= (p.Asp138=)
c.147C= (p.Asp49=)
c.294C= (p.Asp98=)
n.353C=
c.411C= (p.Asp137=)
c.522C= (p.Asp174=)
19g.1105747C>GCA9037352GPX4c.525C>G (p.Asp175Glu)
c.333C>G (p.Asp111Glu)
c.408C>G (p.Asp136Glu)
c.30C>G (p.Asp10Glu)
c.414C>G (p.Asp138Glu)
c.147C>G (p.Asp49Glu)
c.294C>G (p.Asp98Glu)
n.353C>G
c.411C>G (p.Asp137Glu)
c.522C>G (p.Asp174Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1105747C>TCA9037353GPX4c.525C>T (p.Asp175=)
c.333C>T (p.Asp111=)
c.408C>T (p.Asp136=)
c.30C>T (p.Asp10=)
c.414C>T (p.Asp138=)
c.147C>T (p.Asp49=)
c.294C>T (p.Asp98=)
n.353C>T
c.411C>T (p.Asp137=)
c.522C>T (p.Asp174=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1105748G>ACA9037354GPX4c.526G>A (p.Asp176Asn)
c.334G>A (p.Asp112Asn)
c.409G>A (p.Asp137Asn)
c.31G>A (p.Asp11Asn)
c.415G>A (p.Asp139Asn)
c.148G>A (p.Asp50Asn)
c.295G>A (p.Asp99Asn)
n.354G>A
c.412G>A (p.Asp138Asn)
c.523G>A (p.Asp175Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1105748G>CCA402937576GPX4c.526G>C (p.Asp176His)
c.334G>C (p.Asp112His)
c.409G>C (p.Asp137His)
c.31G>C (p.Asp11His)
c.415G>C (p.Asp139His)
c.148G>C (p.Asp50His)
c.295G>C (p.Asp99His)
n.354G>C
c.412G>C (p.Asp138His)
c.523G>C (p.Asp175His)
19g.1105748G=CA2317520121GPX4c.526G= (p.Asp176=)
c.334G= (p.Asp112=)
c.409G= (p.Asp137=)
c.31G= (p.Asp11=)
c.415G= (p.Asp139=)
c.148G= (p.Asp50=)
c.295G= (p.Asp99=)
n.354G=
c.412G= (p.Asp138=)
c.523G= (p.Asp175=)
19g.1105748G>TCA402937577GPX4c.526G>T (p.Asp176Tyr)
c.334G>T (p.Asp112Tyr)
c.409G>T (p.Asp137Tyr)
c.31G>T (p.Asp11Tyr)
c.415G>T (p.Asp139Tyr)
c.148G>T (p.Asp50Tyr)
c.295G>T (p.Asp99Tyr)
n.354G>T
c.412G>T (p.Asp138Tyr)
c.523G>T (p.Asp175Tyr)
19g.1105749A=CA2317520122GPX4c.527A= (p.Asp176=)
c.335A= (p.Asp112=)
c.410A= (p.Asp137=)
c.32A= (p.Asp11=)
c.416A= (p.Asp139=)
c.149A= (p.Asp50=)
c.296A= (p.Asp99=)
n.355A=
c.413A= (p.Asp138=)
c.524A= (p.Asp175=)
19g.1105749A>CCA9037356GPX4c.527A>C (p.Asp176Ala)
c.335A>C (p.Asp112Ala)
c.410A>C (p.Asp137Ala)
c.32A>C (p.Asp11Ala)
c.416A>C (p.Asp139Ala)
c.149A>C (p.Asp50Ala)
c.296A>C (p.Asp99Ala)
n.355A>C
c.413A>C (p.Asp138Ala)
c.524A>C (p.Asp175Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1105749A>GCA9037355GPX4c.527A>G (p.Asp176Gly)
c.335A>G (p.Asp112Gly)
c.410A>G (p.Asp137Gly)
c.32A>G (p.Asp11Gly)
c.416A>G (p.Asp139Gly)
c.149A>G (p.Asp50Gly)
c.296A>G (p.Asp99Gly)
n.355A>G
c.413A>G (p.Asp138Gly)
c.524A>G (p.Asp175Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1105749A>TCA402937578GPX4c.527A>T (p.Asp176Val)
c.335A>T (p.Asp112Val)
c.410A>T (p.Asp137Val)
c.32A>T (p.Asp11Val)
c.416A>T (p.Asp139Val)
c.149A>T (p.Asp50Val)
c.296A>T (p.Asp99Val)
n.355A>T
c.413A>T (p.Asp138Val)
c.524A>T (p.Asp175Val)
19g.1105750C>ACA402937579GPX4c.528C>A (p.Asp176Glu)
c.336C>A (p.Asp112Glu)
c.411C>A (p.Asp137Glu)
c.33C>A (p.Asp11Glu)
c.417C>A (p.Asp139Glu)
c.150C>A (p.Asp50Glu)
c.297C>A (p.Asp99Glu)
n.356C>A
c.414C>A (p.Asp138Glu)
c.525C>A (p.Asp175Glu)
19g.1105750C=CA2317520123GPX4c.528C= (p.Asp176=)
c.336C= (p.Asp112=)
c.411C= (p.Asp137=)
c.33C= (p.Asp11=)
c.417C= (p.Asp139=)
c.150C= (p.Asp50=)
c.297C= (p.Asp99=)
n.356C=
c.414C= (p.Asp138=)
c.525C= (p.Asp175=)
19g.1105750C>GCA402937580GPX4c.528C>G (p.Asp176Glu)
c.336C>G (p.Asp112Glu)
c.411C>G (p.Asp137Glu)
c.33C>G (p.Asp11Glu)
c.417C>G (p.Asp139Glu)
c.150C>G (p.Asp50Glu)
c.297C>G (p.Asp99Glu)
n.356C>G
c.414C>G (p.Asp138Glu)
c.525C>G (p.Asp175Glu)
gnomAD v4
19g.1105750C>TCA9037357GPX4c.528C>T (p.Asp176=)
c.336C>T (p.Asp112=)
c.411C>T (p.Asp137=)
c.33C>T (p.Asp11=)
c.417C>T (p.Asp139=)
c.150C>T (p.Asp50=)
c.297C>T (p.Asp99=)
n.356C>T
c.414C>T (p.Asp138=)
c.525C>T (p.Asp175=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1105751G>ACA402937581GPX4c.529G>A (p.Ala177Thr)
c.337G>A (p.Ala113Thr)
c.412G>A (p.Ala138Thr)
c.34G>A (p.Ala12Thr)
c.418G>A (p.Ala140Thr)
c.151G>A (p.Ala51Thr)
c.298G>A (p.Ala100Thr)
n.357G>A
c.415G>A (p.Ala139Thr)
c.526G>A (p.Ala176Thr)
gnomAD v4 COSMIC
19g.1105751G>CCA402937582GPX4c.529G>C (p.Ala177Pro)
c.337G>C (p.Ala113Pro)
c.412G>C (p.Ala138Pro)
c.34G>C (p.Ala12Pro)
c.418G>C (p.Ala140Pro)
c.151G>C (p.Ala51Pro)
c.298G>C (p.Ala100Pro)
n.357G>C
c.415G>C (p.Ala139Pro)
c.526G>C (p.Ala176Pro)
19g.1105751G>TCA402937583GPX4c.529G>T (p.Ala177Ser)
c.337G>T (p.Ala113Ser)
c.412G>T (p.Ala138Ser)
c.34G>T (p.Ala12Ser)
c.418G>T (p.Ala140Ser)
c.151G>T (p.Ala51Ser)
c.298G>T (p.Ala100Ser)
n.357G>T
c.415G>T (p.Ala139Ser)
c.526G>T (p.Ala176Ser)
dbSNP gnomAD v3 gnomAD v4
19g.1105752C>ACA402937586GPX4c.530C>A (p.Ala177Asp)
c.338C>A (p.Ala113Asp)
c.413C>A (p.Ala138Asp)
c.35C>A (p.Ala12Asp)
c.419C>A (p.Ala140Asp)
c.152C>A (p.Ala51Asp)
c.299C>A (p.Ala100Asp)
n.358C>A
c.416C>A (p.Ala139Asp)
c.527C>A (p.Ala176Asp)
19g.1105752C>GCA402937584GPX4c.530C>G (p.Ala177Gly)
c.338C>G (p.Ala113Gly)
c.413C>G (p.Ala138Gly)
c.35C>G (p.Ala12Gly)
c.419C>G (p.Ala140Gly)
c.152C>G (p.Ala51Gly)
c.299C>G (p.Ala100Gly)
n.358C>G
c.416C>G (p.Ala139Gly)
c.527C>G (p.Ala176Gly)
19g.1105752C>TCA402937585GPX4c.530C>T (p.Ala177Val)
c.338C>T (p.Ala113Val)
c.413C>T (p.Ala138Val)
c.35C>T (p.Ala12Val)
c.419C>T (p.Ala140Val)
c.152C>T (p.Ala51Val)
c.299C>T (p.Ala100Val)
n.358C>T
c.416C>T (p.Ala139Val)
c.527C>T (p.Ala176Val)
19g.1105753C>ACA504694619GPX4c.531C>A (p.Ala177=)
c.339C>A (p.Ala113=)
c.414C>A (p.Ala138=)
c.36C>A (p.Ala12=)
c.420C>A (p.Ala140=)
c.153C>A (p.Ala51=)
c.300C>A (p.Ala100=)
n.359C>A
c.417C>A (p.Ala139=)
c.528C>A (p.Ala176=)
19g.1105753C=CA2317520124GPX4c.531C= (p.Ala177=)
c.339C= (p.Ala113=)
c.414C= (p.Ala138=)
c.36C= (p.Ala12=)
c.420C= (p.Ala140=)
c.153C= (p.Ala51=)
c.300C= (p.Ala100=)
n.359C=
c.417C= (p.Ala139=)
c.528C= (p.Ala176=)
19g.1105753C>GCA504694621GPX4c.531C>G (p.Ala177=)
c.339C>G (p.Ala113=)
c.414C>G (p.Ala138=)
c.36C>G (p.Ala12=)
c.420C>G (p.Ala140=)
c.153C>G (p.Ala51=)
c.300C>G (p.Ala100=)
n.359C>G
c.417C>G (p.Ala139=)
c.528C>G (p.Ala176=)
gnomAD v4
19g.1105753C>TCA9037358GPX4c.531C>T (p.Ala177=)
c.339C>T (p.Ala113=)
c.414C>T (p.Ala138=)
c.36C>T (p.Ala12=)
c.420C>T (p.Ala140=)
c.153C>T (p.Ala51=)
c.300C>T (p.Ala100=)
n.359C>T
c.417C>T (p.Ala139=)
c.528C>T (p.Ala176=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1105754C>ACA402937587GPX4c.532C>A (p.His178Asn)
c.340C>A (p.His114Asn)
c.415C>A (p.His139Asn)
c.37C>A (p.His13Asn)
c.421C>A (p.His141Asn)
c.154C>A (p.His52Asn)
c.301C>A (p.His101Asn)
n.360C>A
c.418C>A (p.His140Asn)
c.529C>A (p.His177Asn)
19g.1105754C=CA2317520125GPX4c.532C= (p.His178=)
c.340C= (p.His114=)
c.415C= (p.His139=)
c.37C= (p.His13=)
c.421C= (p.His141=)
c.154C= (p.His52=)
c.301C= (p.His101=)
n.360C=
c.418C= (p.His140=)
c.529C= (p.His177=)
19g.1105754C>GCA402937588GPX4c.532C>G (p.His178Asp)
c.340C>G (p.His114Asp)
c.415C>G (p.His139Asp)
c.37C>G (p.His13Asp)
c.421C>G (p.His141Asp)
c.154C>G (p.His52Asp)
c.301C>G (p.His101Asp)
n.360C>G
c.418C>G (p.His140Asp)
c.529C>G (p.His177Asp)
19g.1105754C>TCA9037359GPX4c.532C>T (p.His178Tyr)
c.340C>T (p.His114Tyr)
c.415C>T (p.His139Tyr)
c.37C>T (p.His13Tyr)
c.421C>T (p.His141Tyr)
c.154C>T (p.His52Tyr)
c.301C>T (p.His101Tyr)
n.360C>T
c.418C>T (p.His140Tyr)
c.529C>T (p.His177Tyr)
dbSNP ExAC
19g.1105755A>CCA402937589GPX4c.533A>C (p.His178Pro)
c.341A>C (p.His114Pro)
c.416A>C (p.His139Pro)
c.38A>C (p.His13Pro)
c.422A>C (p.His141Pro)
c.155A>C (p.His52Pro)
c.302A>C (p.His101Pro)
n.361A>C
c.419A>C (p.His140Pro)
c.530A>C (p.His177Pro)
gnomAD v4
19g.1105755A>GCA402937590GPX4c.533A>G (p.His178Arg)
c.341A>G (p.His114Arg)
c.416A>G (p.His139Arg)
c.38A>G (p.His13Arg)
c.422A>G (p.His141Arg)
c.155A>G (p.His52Arg)
c.302A>G (p.His101Arg)
n.361A>G
c.419A>G (p.His140Arg)
c.530A>G (p.His177Arg)
19g.1105755A>TCA402937591GPX4c.533A>T (p.His178Leu)
c.341A>T (p.His114Leu)
c.416A>T (p.His139Leu)
c.38A>T (p.His13Leu)
c.422A>T (p.His141Leu)
c.155A>T (p.His52Leu)
c.302A>T (p.His101Leu)
n.361A>T
c.419A>T (p.His140Leu)
c.530A>T (p.His177Leu)
19g.1105756C>ACA402937592GPX4c.534C>A (p.His178Gln)
c.342C>A (p.His114Gln)
c.417C>A (p.His139Gln)
c.39C>A (p.His13Gln)
c.423C>A (p.His141Gln)
c.156C>A (p.His52Gln)
c.303C>A (p.His101Gln)
n.362C>A
c.420C>A (p.His140Gln)
c.531C>A (p.His177Gln)
19g.1105756C>GCA402937593GPX4c.534C>G (p.His178Gln)
c.342C>G (p.His114Gln)
c.417C>G (p.His139Gln)
c.39C>G (p.His13Gln)
c.423C>G (p.His141Gln)
c.156C>G (p.His52Gln)
c.303C>G (p.His101Gln)
n.362C>G
c.420C>G (p.His140Gln)
c.531C>G (p.His177Gln)
19g.1105756C>TCA504694629GPX4c.534C>T (p.His178=)
c.342C>T (p.His114=)
c.417C>T (p.His139=)
c.39C>T (p.His13=)
c.423C>T (p.His141=)
c.156C>T (p.His52=)
c.303C>T (p.His101=)
n.362C>T
c.420C>T (p.His140=)
c.531C>T (p.His177=)
19g.1105758delCA2588207176GPX4c.536del (p.Pro179ArgfsTer6)
c.344del (p.Pro115ArgfsTer6)
c.419del (p.Pro140ArgfsTer6)
c.41del (p.Pro14ArgfsTer6)
c.425del (p.Pro142ArgfsTer6)
c.536del (p.Pro179ArgfsTer?)
c.158del (p.Pro53ArgfsTer6)
c.305del (p.Pro102ArgfsTer6)
n.364del
c.422del (p.Pro141ArgfsTer6)
c.533del (p.Pro178ArgfsTer6)
gnomAD v4
19g.1105757_1105760delCA2588207177GPX4c.535_538del (p.Pro179CysfsTer5)
c.343_346del (p.Pro115CysfsTer5)
c.418_421del (p.Pro140CysfsTer5)
c.40_43del (p.Pro14CysfsTer5)
c.424_427del (p.Pro142CysfsTer5)
c.535_538del (p.Pro179=)
c.157_160del (p.Pro53CysfsTer5)
c.304_307del (p.Pro102CysfsTer5)
n.363_366del
c.421_424del (p.Pro141CysfsTer5)
c.532_535del (p.Pro178CysfsTer5)
gnomAD v4
19g.1105757C>ACA402937594GPX4c.535C>A (p.Pro179Thr)
c.343C>A (p.Pro115Thr)
c.418C>A (p.Pro140Thr)
c.40C>A (p.Pro14Thr)
c.424C>A (p.Pro142Thr)
c.157C>A (p.Pro53Thr)
c.304C>A (p.Pro102Thr)
n.363C>A
c.421C>A (p.Pro141Thr)
c.532C>A (p.Pro178Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1105757C=CA2317520126GPX4c.535C= (p.Pro179=)
c.343C= (p.Pro115=)
c.418C= (p.Pro140=)
c.40C= (p.Pro14=)
c.424C= (p.Pro142=)
c.157C= (p.Pro53=)
c.304C= (p.Pro102=)
n.363C=
c.421C= (p.Pro141=)
c.532C= (p.Pro178=)
19g.1105757C>GCA402937595GPX4c.535C>G (p.Pro179Ala)
c.343C>G (p.Pro115Ala)
c.418C>G (p.Pro140Ala)
c.40C>G (p.Pro14Ala)
c.424C>G (p.Pro142Ala)
c.157C>G (p.Pro53Ala)
c.304C>G (p.Pro102Ala)
n.363C>G
c.421C>G (p.Pro141Ala)
c.532C>G (p.Pro178Ala)
19g.1105757C>TCA402937596GPX4c.535C>T (p.Pro179Ser)
c.343C>T (p.Pro115Ser)
c.418C>T (p.Pro140Ser)
c.40C>T (p.Pro14Ser)
c.424C>T (p.Pro142Ser)
c.157C>T (p.Pro53Ser)
c.304C>T (p.Pro102Ser)
n.363C>T
c.421C>T (p.Pro141Ser)
c.532C>T (p.Pro178Ser)
gnomAD v4
19g.1105758C>ACA402937599GPX4c.536C>A (p.Pro179Gln)
c.344C>A (p.Pro115Gln)
c.419C>A (p.Pro140Gln)
c.41C>A (p.Pro14Gln)
c.425C>A (p.Pro142Gln)
c.158C>A (p.Pro53Gln)
c.305C>A (p.Pro102Gln)
n.364C>A
c.422C>A (p.Pro141Gln)
c.533C>A (p.Pro178Gln)
gnomAD v4
19g.1105758C=CA2317520127GPX4c.536C= (p.Pro179=)
c.344C= (p.Pro115=)
c.419C= (p.Pro140=)
c.41C= (p.Pro14=)
c.425C= (p.Pro142=)
c.158C= (p.Pro53=)
c.305C= (p.Pro102=)
n.364C=
c.422C= (p.Pro141=)
c.533C= (p.Pro178=)
19g.1105758C>GCA402937598GPX4c.536C>G (p.Pro179Arg)
c.344C>G (p.Pro115Arg)
c.419C>G (p.Pro140Arg)
c.41C>G (p.Pro14Arg)
c.425C>G (p.Pro142Arg)
c.158C>G (p.Pro53Arg)
c.305C>G (p.Pro102Arg)
n.364C>G
c.422C>G (p.Pro141Arg)
c.533C>G (p.Pro178Arg)
dbSNP gnomAD v2 gnomAD v4
19g.1105758C>TCA402937597GPX4c.536C>T (p.Pro179Leu)
c.344C>T (p.Pro115Leu)
c.419C>T (p.Pro140Leu)
c.41C>T (p.Pro14Leu)
c.425C>T (p.Pro142Leu)
c.158C>T (p.Pro53Leu)
c.305C>T (p.Pro102Leu)
n.364C>T
c.422C>T (p.Pro141Leu)
c.533C>T (p.Pro178Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1105759G>ACA9037360GPX4c.537G>A (p.Pro179=)
c.345G>A (p.Pro115=)
c.420G>A (p.Pro140=)
c.42G>A (p.Pro14=)
c.426G>A (p.Pro142=)
c.159G>A (p.Pro53=)
c.306G>A (p.Pro102=)
n.365G>A
c.423G>A (p.Pro141=)
c.534G>A (p.Pro178=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.1105759G>CCA504694634GPX4c.537G>C (p.Pro179=)
c.345G>C (p.Pro115=)
c.420G>C (p.Pro140=)
c.42G>C (p.Pro14=)
c.426G>C (p.Pro142=)
c.159G>C (p.Pro53=)
c.306G>C (p.Pro102=)
n.365G>C
c.423G>C (p.Pro141=)
c.534G>C (p.Pro178=)
19g.1105759G=CA2317520128GPX4c.537G= (p.Pro179=)
c.345G= (p.Pro115=)
c.420G= (p.Pro140=)
c.42G= (p.Pro14=)
c.426G= (p.Pro142=)
c.159G= (p.Pro53=)
c.306G= (p.Pro102=)
n.365G=
c.423G= (p.Pro141=)
c.534G= (p.Pro178=)
19g.1105759G>TCA504694635GPX4c.537G>T (p.Pro179=)
c.345G>T (p.Pro115=)
c.420G>T (p.Pro140=)
c.42G>T (p.Pro14=)
c.426G>T (p.Pro142=)
c.159G>T (p.Pro53=)
c.306G>T (p.Pro102=)
n.365G>T
c.423G>T (p.Pro141=)
c.534G>T (p.Pro178=)
gnomAD v4
19g.1105760C>ACA402937600GPX4c.538C>A (p.Leu180Met)
c.346C>A (p.Leu116Met)
c.421C>A (p.Leu141Met)
c.43C>A (p.Leu15Met)
c.427C>A (p.Leu143Met)
c.538C>A
c.160C>A (p.Leu54Met)
c.307C>A (p.Leu103Met)
n.366C>A
c.424C>A (p.Leu142Met)
c.535C>A (p.Leu179Met)
19g.1105760C>GCA402937601GPX4c.538C>G (p.Leu180Val)
c.346C>G (p.Leu116Val)
c.421C>G (p.Leu141Val)
c.43C>G (p.Leu15Val)
c.427C>G (p.Leu143Val)
c.538C>G
c.160C>G (p.Leu54Val)
c.307C>G (p.Leu103Val)
n.366C>G
c.424C>G (p.Leu142Val)
c.535C>G (p.Leu179Val)
19g.1105760C>TCA504694636GPX4c.538C>T (p.Leu180=)
c.346C>T (p.Leu116=)
c.421C>T (p.Leu141=)
c.43C>T (p.Leu15=)
c.427C>T (p.Leu143=)
c.538C>T
c.160C>T (p.Leu54=)
c.307C>T (p.Leu103=)
n.366C>T
c.424C>T (p.Leu142=)
c.535C>T (p.Leu179=)
19g.1105761T>ACA402937602GPX4c.539T>A (p.Leu180Gln)
c.347T>A (p.Leu116Gln)
c.422T>A (p.Leu141Gln)
c.44T>A (p.Leu15Gln)
c.428T>A (p.Leu143Gln)
c.539T>A
c.161T>A (p.Leu54Gln)
c.308T>A (p.Leu103Gln)
n.367T>A
c.425T>A (p.Leu142Gln)
c.536T>A (p.Leu179Gln)
19g.1105761T>CCA402937603GPX4c.539T>C (p.Leu180Pro)
c.347T>C (p.Leu116Pro)
c.422T>C (p.Leu141Pro)
c.44T>C (p.Leu15Pro)
c.428T>C (p.Leu143Pro)
c.539T>C
c.161T>C (p.Leu54Pro)
c.308T>C (p.Leu103Pro)
n.367T>C
c.425T>C (p.Leu142Pro)
c.536T>C (p.Leu179Pro)
19g.1105761T>GCA402937604GPX4c.539T>G (p.Leu180Arg)
c.347T>G (p.Leu116Arg)
c.422T>G (p.Leu141Arg)
c.44T>G (p.Leu15Arg)
c.428T>G (p.Leu143Arg)
c.539T>G
c.161T>G (p.Leu54Arg)
c.308T>G (p.Leu103Arg)
n.367T>G
c.425T>G (p.Leu142Arg)
c.536T>G (p.Leu179Arg)
gnomAD v4
19g.1105762G>ACA504694638GPX4c.540G>A (p.Leu180=)
c.348G>A (p.Leu116=)
c.423G>A (p.Leu141=)
c.45G>A (p.Leu15=)
c.429G>A (p.Leu143=)
c.162G>A (p.Leu54=)
c.309G>A (p.Leu103=)
n.368G>A
c.426G>A (p.Leu142=)
c.537G>A (p.Leu179=)
gnomAD v4
19g.1105762G>CCA504694639GPX4c.540G>C (p.Leu180=)
c.348G>C (p.Leu116=)
c.423G>C (p.Leu141=)
c.45G>C (p.Leu15=)
c.429G>C (p.Leu143=)
c.162G>C (p.Leu54=)
c.309G>C (p.Leu103=)
n.368G>C
c.426G>C (p.Leu142=)
c.537G>C (p.Leu179=)
19g.1105762G>TCA504694640GPX4c.540G>T (p.Leu180=)
c.348G>T (p.Leu116=)
c.423G>T (p.Leu141=)
c.45G>T (p.Leu15=)
c.429G>T (p.Leu143=)
c.162G>T (p.Leu54=)
c.309G>T (p.Leu103=)
n.368G>T
c.426G>T (p.Leu142=)
c.537G>T (p.Leu179=)
gnomAD v4
19g.1105763T>ACA402937607GPX4c.541T>A (p.Trp181Arg)
c.349T>A (p.Trp117Arg)
c.424T>A (p.Trp142Arg)
c.46T>A (p.Trp16Arg)
c.430T>A (p.Trp144Arg)
c.163T>A (p.Trp55Arg)
c.310T>A (p.Trp104Arg)
n.369T>A
c.427T>A (p.Trp143Arg)
c.538T>A (p.Trp180Arg)
19g.1105763T>CCA402937606GPX4c.541T>C (p.Trp181Arg)
c.349T>C (p.Trp117Arg)
c.424T>C (p.Trp142Arg)
c.46T>C (p.Trp16Arg)
c.430T>C (p.Trp144Arg)
c.163T>C (p.Trp55Arg)
c.310T>C (p.Trp104Arg)
n.369T>C
c.427T>C (p.Trp143Arg)
c.538T>C (p.Trp180Arg)
19g.1105763T>GCA402937605GPX4c.541T>G (p.Trp181Gly)
c.349T>G (p.Trp117Gly)
c.424T>G (p.Trp142Gly)
c.46T>G (p.Trp16Gly)
c.430T>G (p.Trp144Gly)
c.163T>G (p.Trp55Gly)
c.310T>G (p.Trp104Gly)
n.369T>G
c.427T>G (p.Trp143Gly)
c.538T>G (p.Trp180Gly)
19g.1105764G>ACA402937608GPX4c.542G>A (p.Trp181Ter)
c.350G>A (p.Trp117Ter)
c.425G>A (p.Trp142Ter)
c.47G>A (p.Trp16Ter)
c.431G>A (p.Trp144Ter)
c.164G>A (p.Trp55Ter)
c.311G>A (p.Trp104Ter)
n.370G>A
c.428G>A (p.Trp143Ter)
c.539G>A (p.Trp180Ter)
19g.1105764G>CCA402937609GPX4c.542G>C (p.Trp181Ser)
c.350G>C (p.Trp117Ser)
c.425G>C (p.Trp142Ser)
c.47G>C (p.Trp16Ser)
c.431G>C (p.Trp144Ser)
c.164G>C (p.Trp55Ser)
c.311G>C (p.Trp104Ser)
n.370G>C
c.428G>C (p.Trp143Ser)
c.539G>C (p.Trp180Ser)
19g.1105764G=CA2317520129GPX4c.542G= (p.Trp181=)
c.350G= (p.Trp117=)
c.425G= (p.Trp142=)
c.47G= (p.Trp16=)
c.431G= (p.Trp144=)
c.164G= (p.Trp55=)
c.311G= (p.Trp104=)
n.370G=
c.428G= (p.Trp143=)
c.539G= (p.Trp180=)
19g.1105764G>TCA402937610GPX4c.542G>T (p.Trp181Leu)
c.350G>T (p.Trp117Leu)
c.425G>T (p.Trp142Leu)
c.47G>T (p.Trp16Leu)
c.431G>T (p.Trp144Leu)
c.164G>T (p.Trp55Leu)
c.311G>T (p.Trp104Leu)
n.370G>T
c.428G>T (p.Trp143Leu)
c.539G>T (p.Trp180Leu)
dbSNP gnomAD v4
19g.1105765G>ACA402937611GPX4c.543G>A (p.Trp181Ter)
c.351G>A (p.Trp117Ter)
c.426G>A (p.Trp142Ter)
c.48G>A (p.Trp16Ter)
c.432G>A (p.Trp144Ter)
c.165G>A (p.Trp55Ter)
c.312G>A (p.Trp104Ter)
n.371G>A
c.429G>A (p.Trp143Ter)
c.540G>A (p.Trp180Ter)
gnomAD v4
19g.1105765G>CCA402937612GPX4c.543G>C (p.Trp181Cys)
c.351G>C (p.Trp117Cys)
c.426G>C (p.Trp142Cys)
c.48G>C (p.Trp16Cys)
c.432G>C (p.Trp144Cys)
c.165G>C (p.Trp55Cys)
c.312G>C (p.Trp104Cys)
n.371G>C
c.429G>C (p.Trp143Cys)
c.540G>C (p.Trp180Cys)
19g.1105765G>TCA402937613GPX4c.543G>T (p.Trp181Cys)
c.351G>T (p.Trp117Cys)
c.426G>T (p.Trp142Cys)
c.48G>T (p.Trp16Cys)
c.432G>T (p.Trp144Cys)
c.165G>T (p.Trp55Cys)
c.312G>T (p.Trp104Cys)
n.371G>T
c.429G>T (p.Trp143Cys)
c.540G>T (p.Trp180Cys)
19g.1105766A>CCA402937614GPX4c.544A>C (p.Lys182Gln)
c.352A>C (p.Lys118Gln)
c.427A>C (p.Lys143Gln)
c.49A>C (p.Lys17Gln)
c.433A>C (p.Lys145Gln)
c.166A>C (p.Lys56Gln)
c.313A>C (p.Lys105Gln)
n.372A>C
c.430A>C (p.Lys144Gln)
c.541A>C (p.Lys181Gln)
19g.1105766A>GCA402937616GPX4c.544A>G (p.Lys182Glu)
c.352A>G (p.Lys118Glu)
c.427A>G (p.Lys143Glu)
c.49A>G (p.Lys17Glu)
c.433A>G (p.Lys145Glu)
c.166A>G (p.Lys56Glu)
c.313A>G (p.Lys105Glu)
n.372A>G
c.430A>G (p.Lys144Glu)
c.541A>G (p.Lys181Glu)
19g.1105766A>TCA402937615GPX4c.544A>T (p.Lys182Ter)
c.352A>T (p.Lys118Ter)
c.427A>T (p.Lys143Ter)
c.49A>T (p.Lys17Ter)
c.433A>T (p.Lys145Ter)
c.166A>T (p.Lys56Ter)
c.313A>T (p.Lys105Ter)
n.372A>T
c.430A>T (p.Lys144Ter)
c.541A>T (p.Lys181Ter)
19g.1105767A>CCA402937617GPX4c.545A>C (p.Lys182Thr)
c.353A>C (p.Lys118Thr)
c.428A>C (p.Lys143Thr)
c.50A>C (p.Lys17Thr)
c.434A>C (p.Lys145Thr)
c.167A>C (p.Lys56Thr)
c.314A>C (p.Lys105Thr)
n.373A>C
c.431A>C (p.Lys144Thr)
c.542A>C (p.Lys181Thr)
19g.1105767A>GCA402937618GPX4c.545A>G (p.Lys182Arg)
c.353A>G (p.Lys118Arg)
c.428A>G (p.Lys143Arg)
c.50A>G (p.Lys17Arg)
c.434A>G (p.Lys145Arg)
c.167A>G (p.Lys56Arg)
c.314A>G (p.Lys105Arg)
n.373A>G
c.431A>G (p.Lys144Arg)
c.542A>G (p.Lys181Arg)
COSMIC
19g.1105767A>TCA402937619GPX4c.545A>T (p.Lys182Met)
c.353A>T (p.Lys118Met)
c.428A>T (p.Lys143Met)
c.50A>T (p.Lys17Met)
c.434A>T (p.Lys145Met)
c.167A>T (p.Lys56Met)
c.314A>T (p.Lys105Met)
n.373A>T
c.431A>T (p.Lys144Met)
c.542A>T (p.Lys181Met)
19g.1105768G>ACA504694646GPX4c.546G>A (p.Lys182=)
c.354G>A (p.Lys118=)
c.429G>A (p.Lys143=)
c.51G>A (p.Lys17=)
c.435G>A (p.Lys145=)
c.168G>A (p.Lys56=)
c.315G>A (p.Lys105=)
n.374G>A
c.432G>A (p.Lys144=)
c.543G>A (p.Lys181=)
19g.1105768G>CCA402937620GPX4c.546G>C (p.Lys182Asn)
c.354G>C (p.Lys118Asn)
c.429G>C (p.Lys143Asn)
c.51G>C (p.Lys17Asn)
c.435G>C (p.Lys145Asn)
c.168G>C (p.Lys56Asn)
c.315G>C (p.Lys105Asn)
n.374G>C
c.432G>C (p.Lys144Asn)
c.543G>C (p.Lys181Asn)
19g.1105768G>TCA402937621GPX4c.546G>T (p.Lys182Asn)
c.354G>T (p.Lys118Asn)
c.429G>T (p.Lys143Asn)
c.51G>T (p.Lys17Asn)
c.435G>T (p.Lys145Asn)
c.168G>T (p.Lys56Asn)
c.315G>T (p.Lys105Asn)
n.374G>T
c.432G>T (p.Lys144Asn)
c.543G>T (p.Lys181Asn)
19g.1105768_1105772delinsGTGGACA2317520130GPX4c.546_550delinsGTGGA (p.Lys182=)
c.354_358delinsGTGGA (p.Lys118=)
c.429_433delinsGTGGA (p.Lys143=)
c.51_55delinsGTGGA (p.Lys17=)
c.435_439delinsGTGGA (p.Lys145=)
c.168_172delinsGTGGA (p.Lys56=)
c.315_319delinsGTGGA (p.Lys105=)
n.374_378delinsGTGGA
c.432_436delinsGTGGA (p.Lys144=)
c.543_547delinsGTGGA (p.Lys181=)
19g.1105769T>ACA402937622GPX4c.547T>A (p.Trp183Arg)
c.355T>A (p.Trp119Arg)
c.430T>A (p.Trp144Arg)
c.52T>A (p.Trp18Arg)
c.436T>A (p.Trp146Arg)
c.169T>A (p.Trp57Arg)
c.316T>A (p.Trp106Arg)
n.375T>A
c.433T>A (p.Trp145Arg)
c.544T>A (p.Trp182Arg)
19g.1105769T>CCA402937623GPX4c.547T>C (p.Trp183Arg)
c.355T>C (p.Trp119Arg)
c.430T>C (p.Trp144Arg)
c.52T>C (p.Trp18Arg)
c.436T>C (p.Trp146Arg)
c.169T>C (p.Trp57Arg)
c.316T>C (p.Trp106Arg)
n.375T>C
c.433T>C (p.Trp145Arg)
c.544T>C (p.Trp182Arg)
gnomAD v4
19g.1105769T>GCA402937624GPX4c.547T>G (p.Trp183Gly)
c.355T>G (p.Trp119Gly)
c.430T>G (p.Trp144Gly)
c.52T>G (p.Trp18Gly)
c.436T>G (p.Trp146Gly)
c.169T>G (p.Trp57Gly)
c.316T>G (p.Trp106Gly)
n.375T>G
c.433T>G (p.Trp145Gly)
c.544T>G (p.Trp182Gly)
19g.1105771_1105774delCA9037361GPX4c.549_552del (p.Trp183Ter)
c.357_360del (p.Trp119Ter)
c.432_435del (p.Trp144Ter)
c.54_57del (p.Trp18Ter)
c.438_441del (p.Trp146Ter)
c.171_174del (p.Trp57Ter)
c.318_321del (p.Trp106Ter)
n.377_380del
c.435_438del (p.Trp145Ter)
c.546_549del (p.Trp182Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1105770G>ACA402937625GPX4c.548G>A (p.Trp183Ter)
c.356G>A (p.Trp119Ter)
c.431G>A (p.Trp144Ter)
c.53G>A (p.Trp18Ter)
c.437G>A (p.Trp146Ter)
c.170G>A (p.Trp57Ter)
c.317G>A (p.Trp106Ter)
n.376G>A
c.434G>A (p.Trp145Ter)
c.545G>A (p.Trp182Ter)
gnomAD v4
19g.1105770G>CCA402937626GPX4c.548G>C (p.Trp183Ser)
c.356G>C (p.Trp119Ser)
c.431G>C (p.Trp144Ser)
c.53G>C (p.Trp18Ser)
c.437G>C (p.Trp146Ser)
c.170G>C (p.Trp57Ser)
c.317G>C (p.Trp106Ser)
n.376G>C
c.434G>C (p.Trp145Ser)
c.545G>C (p.Trp182Ser)
19g.1105770G>TCA402937627GPX4c.548G>T (p.Trp183Leu)
c.356G>T (p.Trp119Leu)
c.431G>T (p.Trp144Leu)
c.53G>T (p.Trp18Leu)
c.437G>T (p.Trp146Leu)
c.170G>T (p.Trp57Leu)
c.317G>T (p.Trp106Leu)
n.376G>T
c.434G>T (p.Trp145Leu)
c.545G>T (p.Trp182Leu)
19g.1105771G>ACA402937630GPX4c.549G>A (p.Trp183Ter)
c.357G>A (p.Trp119Ter)
c.432G>A (p.Trp144Ter)
c.54G>A (p.Trp18Ter)
c.438G>A (p.Trp146Ter)
c.171G>A (p.Trp57Ter)
c.318G>A (p.Trp106Ter)
n.377G>A
c.435G>A (p.Trp145Ter)
c.546G>A (p.Trp182Ter)
gnomAD v4
19g.1105771G>CCA402937629GPX4c.549G>C (p.Trp183Cys)
c.357G>C (p.Trp119Cys)
c.432G>C (p.Trp144Cys)
c.54G>C (p.Trp18Cys)
c.438G>C (p.Trp146Cys)
c.171G>C (p.Trp57Cys)
c.318G>C (p.Trp106Cys)
n.377G>C
c.435G>C (p.Trp145Cys)
c.546G>C (p.Trp182Cys)
dbSNP gnomAD v4
19g.1105771G=CA2317520131GPX4c.549G= (p.Trp183=)
c.357G= (p.Trp119=)
c.432G= (p.Trp144=)
c.54G= (p.Trp18=)
c.438G= (p.Trp146=)
c.171G= (p.Trp57=)
c.318G= (p.Trp106=)
n.377G=
c.435G= (p.Trp145=)
c.546G= (p.Trp182=)
19g.1105771G>TCA402937628GPX4c.549G>T (p.Trp183Cys)
c.357G>T (p.Trp119Cys)
c.432G>T (p.Trp144Cys)
c.54G>T (p.Trp18Cys)
c.438G>T (p.Trp146Cys)
c.171G>T (p.Trp57Cys)
c.318G>T (p.Trp106Cys)
n.377G>T
c.435G>T (p.Trp145Cys)
c.546G>T (p.Trp182Cys)
19g.1105772delCA2588207178GPX4c.550del (p.Met184Ter)
c.358del (p.Met120Ter)
c.433del (p.Met145Ter)
c.55del (p.Met19Ter)
c.439del (p.Met147Ter)
c.172del (p.Met58Ter)
c.319del (p.Met107Ter)
n.378del
c.436del (p.Met146Ter)
c.547del (p.Met183Ter)
gnomAD v4
19g.1105772A>CCA402937631GPX4c.550A>C (p.Met184Leu)
c.358A>C (p.Met120Leu)
c.433A>C (p.Met145Leu)
c.55A>C (p.Met19Leu)
c.439A>C (p.Met147Leu)
c.172A>C (p.Met58Leu)
c.319A>C (p.Met107Leu)
n.378A>C
c.436A>C (p.Met146Leu)
c.547A>C (p.Met183Leu)
19g.1105772A>GCA402937633GPX4c.550A>G (p.Met184Val)
c.358A>G (p.Met120Val)
c.433A>G (p.Met145Val)
c.55A>G (p.Met19Val)
c.439A>G (p.Met147Val)
c.172A>G (p.Met58Val)
c.319A>G (p.Met107Val)
n.378A>G
c.436A>G (p.Met146Val)
c.547A>G (p.Met183Val)
gnomAD v4
19g.1105772A>TCA402937632GPX4c.550A>T (p.Met184Leu)
c.358A>T (p.Met120Leu)
c.433A>T (p.Met145Leu)
c.55A>T (p.Met19Leu)
c.439A>T (p.Met147Leu)
c.172A>T (p.Met58Leu)
c.319A>T (p.Met107Leu)
n.378A>T
c.436A>T (p.Met146Leu)
c.547A>T (p.Met183Leu)
gnomAD v4
19g.1105773T>ACA402937634GPX4c.551T>A (p.Met184Lys)
c.359T>A (p.Met120Lys)
c.434T>A (p.Met145Lys)
c.56T>A (p.Met19Lys)
c.440T>A (p.Met147Lys)
c.173T>A (p.Met58Lys)
c.320T>A (p.Met107Lys)
n.379T>A
c.437T>A (p.Met146Lys)
c.548T>A (p.Met183Lys)
gnomAD v4
19g.1105773T>CCA402937635GPX4c.551T>C (p.Met184Thr)
c.359T>C (p.Met120Thr)
c.434T>C (p.Met145Thr)
c.56T>C (p.Met19Thr)
c.440T>C (p.Met147Thr)
c.173T>C (p.Met58Thr)
c.320T>C (p.Met107Thr)
n.379T>C
c.437T>C (p.Met146Thr)
c.548T>C (p.Met183Thr)
19g.1105773T>GCA402937636GPX4c.551T>G (p.Met184Arg)
c.359T>G (p.Met120Arg)
c.434T>G (p.Met145Arg)
c.56T>G (p.Met19Arg)
c.440T>G (p.Met147Arg)
c.173T>G (p.Met58Arg)
c.320T>G (p.Met107Arg)
n.379T>G
c.437T>G (p.Met146Arg)
c.548T>G (p.Met183Arg)
19g.1105774G>ACA402937637GPX4c.552G>A (p.Met184Ile)
c.360G>A (p.Met120Ile)
c.435G>A (p.Met145Ile)
c.57G>A (p.Met19Ile)
c.441G>A (p.Met147Ile)
c.174G>A (p.Met58Ile)
c.321G>A (p.Met107Ile)
n.380G>A
c.438G>A (p.Met146Ile)
c.549G>A (p.Met183Ile)
gnomAD v4
19g.1105774G>CCA402937638GPX4c.552G>C (p.Met184Ile)
c.360G>C (p.Met120Ile)
c.435G>C (p.Met145Ile)
c.57G>C (p.Met19Ile)
c.441G>C (p.Met147Ile)
c.174G>C (p.Met58Ile)
c.321G>C (p.Met107Ile)
n.380G>C
c.438G>C (p.Met146Ile)
c.549G>C (p.Met183Ile)
19g.1105774G>TCA402937639GPX4c.552G>T (p.Met184Ile)
c.360G>T (p.Met120Ile)
c.435G>T (p.Met145Ile)
c.57G>T (p.Met19Ile)
c.441G>T (p.Met147Ile)
c.174G>T (p.Met58Ile)
c.321G>T (p.Met107Ile)
n.380G>T
c.438G>T (p.Met146Ile)
c.549G>T (p.Met183Ile)
gnomAD v4
19g.1105775A>CCA402937640GPX4c.553A>C (p.Lys185Gln)
c.361A>C (p.Lys121Gln)
c.436A>C (p.Lys146Gln)
c.58A>C (p.Lys20Gln)
c.442A>C (p.Lys148Gln)
c.175A>C (p.Lys59Gln)
c.322A>C (p.Lys108Gln)
n.381A>C
c.439A>C (p.Lys147Gln)
c.550A>C (p.Lys184Gln)
19g.1105775A>GCA402937641GPX4c.553A>G (p.Lys185Glu)
c.361A>G (p.Lys121Glu)
c.436A>G (p.Lys146Glu)
c.58A>G (p.Lys20Glu)
c.442A>G (p.Lys148Glu)
c.175A>G (p.Lys59Glu)
c.322A>G (p.Lys108Glu)
n.381A>G
c.439A>G (p.Lys147Glu)
c.550A>G (p.Lys184Glu)
19g.1105775A>TCA402937642GPX4c.553A>T (p.Lys185Ter)
c.361A>T (p.Lys121Ter)
c.436A>T (p.Lys146Ter)
c.58A>T (p.Lys20Ter)
c.442A>T (p.Lys148Ter)
c.175A>T (p.Lys59Ter)
c.322A>T (p.Lys108Ter)
n.381A>T
c.439A>T (p.Lys147Ter)
c.550A>T (p.Lys184Ter)
19g.1105776A=CA2317520132GPX4c.554A= (p.Lys185=)
c.362A= (p.Lys121=)
c.437A= (p.Lys146=)
c.59A= (p.Lys20=)
c.443A= (p.Lys148=)
c.176A= (p.Lys59=)
c.323A= (p.Lys108=)
n.382A=
c.440A= (p.Lys147=)
c.551A= (p.Lys184=)
19g.1105776A>CCA402937643GPX4c.554A>C (p.Lys185Thr)
c.362A>C (p.Lys121Thr)
c.437A>C (p.Lys146Thr)
c.59A>C (p.Lys20Thr)
c.443A>C (p.Lys148Thr)
c.176A>C (p.Lys59Thr)
c.323A>C (p.Lys108Thr)
n.382A>C
c.440A>C (p.Lys147Thr)
c.551A>C (p.Lys184Thr)
gnomAD v4
19g.1105776A>GCA402937644GPX4c.554A>G (p.Lys185Arg)
c.362A>G (p.Lys121Arg)
c.437A>G (p.Lys146Arg)
c.59A>G (p.Lys20Arg)
c.443A>G (p.Lys148Arg)
c.176A>G (p.Lys59Arg)
c.323A>G (p.Lys108Arg)
n.382A>G
c.440A>G (p.Lys147Arg)
c.551A>G (p.Lys184Arg)
gnomAD v4
19g.1105776A>TCA402937645GPX4c.554A>T (p.Lys185Met)
c.362A>T (p.Lys121Met)
c.437A>T (p.Lys146Met)
c.59A>T (p.Lys20Met)
c.443A>T (p.Lys148Met)
c.176A>T (p.Lys59Met)
c.323A>T (p.Lys108Met)
n.382A>T
c.440A>T (p.Lys147Met)
c.551A>T (p.Lys184Met)
dbSNP
19g.1105777G>ACA504694656GPX4c.555G>A (p.Lys185=)
c.363G>A (p.Lys121=)
c.438G>A (p.Lys146=)
c.60G>A (p.Lys20=)
c.444G>A (p.Lys148=)
c.177G>A (p.Lys59=)
c.324G>A (p.Lys108=)
n.383G>A
c.441G>A (p.Lys147=)
c.552G>A (p.Lys184=)
dbSNP gnomAD v3 gnomAD v4
19g.1105777G>CCA303993979GPX4c.555G>C (p.Lys185Asn)
c.363G>C (p.Lys121Asn)
c.438G>C (p.Lys146Asn)
c.60G>C (p.Lys20Asn)
c.444G>C (p.Lys148Asn)
c.177G>C (p.Lys59Asn)
c.324G>C (p.Lys108Asn)
n.383G>C
c.441G>C (p.Lys147Asn)
c.552G>C (p.Lys184Asn)
dbSNP gnomAD v2 gnomAD v4
19g.1105777G=CA2317520133GPX4c.555G= (p.Lys185=)
c.363G= (p.Lys121=)
c.438G= (p.Lys146=)
c.60G= (p.Lys20=)
c.444G= (p.Lys148=)
c.177G= (p.Lys59=)
c.324G= (p.Lys108=)
n.383G=
c.441G= (p.Lys147=)
c.552G= (p.Lys184=)
19g.1105777G>TCA402937646GPX4c.555G>T (p.Lys185Asn)
c.363G>T (p.Lys121Asn)
c.438G>T (p.Lys146Asn)
c.60G>T (p.Lys20Asn)
c.444G>T (p.Lys148Asn)
c.177G>T (p.Lys59Asn)
c.324G>T (p.Lys108Asn)
n.383G>T
c.441G>T (p.Lys147Asn)
c.552G>T (p.Lys184Asn)
gnomAD v4
19g.1105778A>CCA402937647GPX4c.556A>C (p.Ile186Leu)
c.364A>C (p.Ile122Leu)
c.439A>C (p.Ile147Leu)
c.61A>C (p.Ile21Leu)
c.445A>C (p.Ile149Leu)
c.178A>C (p.Ile60Leu)
c.325A>C (p.Ile109Leu)
n.384A>C
c.442A>C (p.Ile148Leu)
c.553A>C (p.Ile185Leu)
19g.1105778A>GCA402937648GPX4c.556A>G (p.Ile186Val)
c.364A>G (p.Ile122Val)
c.439A>G (p.Ile147Val)
c.61A>G (p.Ile21Val)
c.445A>G (p.Ile149Val)
c.178A>G (p.Ile60Val)
c.325A>G (p.Ile109Val)
n.384A>G
c.442A>G (p.Ile148Val)
c.553A>G (p.Ile185Val)
19g.1105778A>TCA402937649GPX4c.556A>T (p.Ile186Phe)
c.364A>T (p.Ile122Phe)
c.439A>T (p.Ile147Phe)
c.61A>T (p.Ile21Phe)
c.445A>T (p.Ile149Phe)
c.178A>T (p.Ile60Phe)
c.325A>T (p.Ile109Phe)
n.384A>T
c.442A>T (p.Ile148Phe)
c.553A>T (p.Ile185Phe)
19g.1105779T>ACA402937650GPX4c.557T>A (p.Ile186Asn)
c.365T>A (p.Ile122Asn)
c.440T>A (p.Ile147Asn)
c.62T>A (p.Ile21Asn)
c.446T>A (p.Ile149Asn)
c.179T>A (p.Ile60Asn)
c.326T>A (p.Ile109Asn)
n.385T>A
c.443T>A (p.Ile148Asn)
c.554T>A (p.Ile185Asn)
19g.1105779T>CCA402937651GPX4c.557T>C (p.Ile186Thr)
c.365T>C (p.Ile122Thr)
c.440T>C (p.Ile147Thr)
c.62T>C (p.Ile21Thr)
c.446T>C (p.Ile149Thr)
c.179T>C (p.Ile60Thr)
c.326T>C (p.Ile109Thr)
n.385T>C
c.443T>C (p.Ile148Thr)
c.554T>C (p.Ile185Thr)
19g.1105779T>GCA402937652GPX4c.557T>G (p.Ile186Ser)
c.365T>G (p.Ile122Ser)
c.440T>G (p.Ile147Ser)
c.62T>G (p.Ile21Ser)
c.446T>G (p.Ile149Ser)
c.179T>G (p.Ile60Ser)
c.326T>G (p.Ile109Ser)
n.385T>G
c.443T>G (p.Ile148Ser)
c.554T>G (p.Ile185Ser)
19g.1105780C>ACA504694659GPX4c.558C>A (p.Ile186=)
c.366C>A (p.Ile122=)
c.441C>A (p.Ile147=)
c.63C>A (p.Ile21=)
c.447C>A (p.Ile149=)
c.180C>A (p.Ile60=)
c.327C>A (p.Ile109=)
n.386C>A
c.444C>A (p.Ile148=)
c.555C>A (p.Ile185=)
gnomAD v4
19g.1105780C=CA2317520134GPX4c.558C= (p.Ile186=)
c.366C= (p.Ile122=)
c.441C= (p.Ile147=)
c.63C= (p.Ile21=)
c.447C= (p.Ile149=)
c.180C= (p.Ile60=)
c.327C= (p.Ile109=)
n.386C=
c.444C= (p.Ile148=)
c.555C= (p.Ile185=)
19g.1105780C>GCA9037362GPX4c.558C>G (p.Ile186Met)
c.366C>G (p.Ile122Met)
c.441C>G (p.Ile147Met)
c.63C>G (p.Ile21Met)
c.447C>G (p.Ile149Met)
c.180C>G (p.Ile60Met)
c.327C>G (p.Ile109Met)
n.386C>G
c.444C>G (p.Ile148Met)
c.555C>G (p.Ile185Met)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1105780C>TCA504694660GPX4c.558C>T (p.Ile186=)
c.366C>T (p.Ile122=)
c.441C>T (p.Ile147=)
c.63C>T (p.Ile21=)
c.447C>T (p.Ile149=)
c.180C>T (p.Ile60=)
c.327C>T (p.Ile109=)
n.386C>T
c.444C>T (p.Ile148=)
c.555C>T (p.Ile185=)
gnomAD v4
19g.1105781dupCA2576545101GPX4c.559dup (p.Gln187ProfsTer?)
c.367dup (p.Gln123ProfsTer?)
c.442dup (p.Gln148ProfsTer?)
c.64dup (p.Gln22ProfsTer?)
c.448dup (p.Gln150ProfsTer?)
c.181dup (p.Gln61ProfsTer?)
c.328dup (p.Gln110ProfsTer?)
n.387dup
c.445dup (p.Gln149ProfsTer?)
c.556dup (p.Gln186ProfsTer?)
gnomAD v4
19g.1105781C>ACA402937653GPX4c.559C>A (p.Gln187Lys)
c.367C>A (p.Gln123Lys)
c.442C>A (p.Gln148Lys)
c.64C>A (p.Gln22Lys)
c.448C>A (p.Gln150Lys)
c.181C>A (p.Gln61Lys)
c.328C>A (p.Gln110Lys)
n.387C>A
c.445C>A (p.Gln149Lys)
c.556C>A (p.Gln186Lys)
19g.1105781C>GCA402937654GPX4c.559C>G (p.Gln187Glu)
c.367C>G (p.Gln123Glu)
c.442C>G (p.Gln148Glu)
c.64C>G (p.Gln22Glu)
c.448C>G (p.Gln150Glu)
c.181C>G (p.Gln61Glu)
c.328C>G (p.Gln110Glu)
n.387C>G
c.445C>G (p.Gln149Glu)
c.556C>G (p.Gln186Glu)
19g.1105781C>TCA402937655GPX4c.559C>T (p.Gln187Ter)
c.367C>T (p.Gln123Ter)
c.442C>T (p.Gln148Ter)
c.64C>T (p.Gln22Ter)
c.448C>T (p.Gln150Ter)
c.181C>T (p.Gln61Ter)
c.328C>T (p.Gln110Ter)
n.387C>T
c.445C>T (p.Gln149Ter)
c.556C>T (p.Gln186Ter)
COSMIC
19g.1105782A>CCA402937656GPX4c.560A>C (p.Gln187Pro)
c.368A>C (p.Gln123Pro)
c.443A>C (p.Gln148Pro)
c.65A>C (p.Gln22Pro)
c.449A>C (p.Gln150Pro)
c.182A>C (p.Gln61Pro)
c.329A>C (p.Gln110Pro)
n.388A>C
c.446A>C (p.Gln149Pro)
c.557A>C (p.Gln186Pro)
19g.1105782A>GCA402937657GPX4c.560A>G (p.Gln187Arg)
c.368A>G (p.Gln123Arg)
c.443A>G (p.Gln148Arg)
c.65A>G (p.Gln22Arg)
c.449A>G (p.Gln150Arg)
c.182A>G (p.Gln61Arg)
c.329A>G (p.Gln110Arg)
n.388A>G
c.446A>G (p.Gln149Arg)
c.557A>G (p.Gln186Arg)
19g.1105782A>TCA402937658GPX4c.560A>T (p.Gln187Leu)
c.368A>T (p.Gln123Leu)
c.443A>T (p.Gln148Leu)
c.65A>T (p.Gln22Leu)
c.449A>T (p.Gln150Leu)
c.182A>T (p.Gln61Leu)
c.329A>T (p.Gln110Leu)
n.388A>T
c.446A>T (p.Gln149Leu)
c.557A>T (p.Gln186Leu)
19g.1105783A>CCA402937660GPX4c.561A>C (p.Gln187His)
c.369A>C (p.Gln123His)
c.444A>C (p.Gln148His)
c.66A>C (p.Gln22His)
c.450A>C (p.Gln150His)
c.183A>C (p.Gln61His)
c.330A>C (p.Gln110His)
n.389A>C
c.447A>C (p.Gln149His)
c.558A>C (p.Gln186His)
19g.1105783A>GCA504694661GPX4c.561A>G (p.Gln187=)
c.369A>G (p.Gln123=)
c.444A>G (p.Gln148=)
c.66A>G (p.Gln22=)
c.450A>G (p.Gln150=)
c.183A>G (p.Gln61=)
c.330A>G (p.Gln110=)
n.389A>G
c.447A>G (p.Gln149=)
c.558A>G (p.Gln186=)
gnomAD v4
19g.1105783A>TCA402937659GPX4c.561A>T (p.Gln187His)
c.369A>T (p.Gln123His)
c.444A>T (p.Gln148His)
c.66A>T (p.Gln22His)
c.450A>T (p.Gln150His)
c.183A>T (p.Gln61His)
c.330A>T (p.Gln110His)
n.389A>T
c.447A>T (p.Gln149His)
c.558A>T (p.Gln186His)
19g.1105784C>ACA402937661GPX4c.562C>A (p.Pro188Thr)
c.370C>A (p.Pro124Thr)
c.445C>A (p.Pro149Thr)
c.67C>A (p.Pro23Thr)
c.451C>A (p.Pro151Thr)
c.184C>A (p.Pro62Thr)
c.331C>A (p.Pro111Thr)
n.390C>A
c.448C>A (p.Pro150Thr)
c.559C>A (p.Pro187Thr)
19g.1105784C>GCA402937662GPX4c.562C>G (p.Pro188Ala)
c.370C>G (p.Pro124Ala)
c.445C>G (p.Pro149Ala)
c.67C>G (p.Pro23Ala)
c.451C>G (p.Pro151Ala)
c.184C>G (p.Pro62Ala)
c.331C>G (p.Pro111Ala)
n.390C>G
c.448C>G (p.Pro150Ala)
c.559C>G (p.Pro187Ala)
19g.1105784C>TCA402937663GPX4c.562C>T (p.Pro188Ser)
c.370C>T (p.Pro124Ser)
c.445C>T (p.Pro149Ser)
c.67C>T (p.Pro23Ser)
c.451C>T (p.Pro151Ser)
c.184C>T (p.Pro62Ser)
c.331C>T (p.Pro111Ser)
n.390C>T
c.448C>T (p.Pro150Ser)
c.559C>T (p.Pro187Ser)
19g.1105785C>ACA402937664GPX4c.563C>A (p.Pro188His)
c.371C>A (p.Pro124His)
c.446C>A (p.Pro149His)
c.68C>A (p.Pro23His)
c.452C>A (p.Pro151His)
c.185C>A (p.Pro62His)
c.332C>A (p.Pro111His)
n.391C>A
c.449C>A (p.Pro150His)
c.560C>A (p.Pro187His)
gnomAD v4
19g.1105785C=CA2317520135GPX4c.563C= (p.Pro188=)
c.371C= (p.Pro124=)
c.446C= (p.Pro149=)
c.68C= (p.Pro23=)
c.452C= (p.Pro151=)
c.185C= (p.Pro62=)
c.332C= (p.Pro111=)
n.391C=
c.449C= (p.Pro150=)
c.560C= (p.Pro187=)
19g.1105785C>GCA402937665GPX4c.563C>G (p.Pro188Arg)
c.371C>G (p.Pro124Arg)
c.446C>G (p.Pro149Arg)
c.68C>G (p.Pro23Arg)
c.452C>G (p.Pro151Arg)
c.185C>G (p.Pro62Arg)
c.332C>G (p.Pro111Arg)
n.391C>G
c.449C>G (p.Pro150Arg)
c.560C>G (p.Pro187Arg)
dbSNP gnomAD v2 gnomAD v4
19g.1105785C>TCA402937666GPX4c.563C>T (p.Pro188Leu)
c.371C>T (p.Pro124Leu)
c.446C>T (p.Pro149Leu)
c.68C>T (p.Pro23Leu)
c.452C>T (p.Pro151Leu)
c.185C>T (p.Pro62Leu)
c.332C>T (p.Pro111Leu)
n.391C>T
c.449C>T (p.Pro150Leu)
c.560C>T (p.Pro187Leu)
19g.1105786C>ACA504694662GPX4c.564C>A (p.Pro188=)
c.372C>A (p.Pro124=)
c.447C>A (p.Pro149=)
c.69C>A (p.Pro23=)
c.453C>A (p.Pro151=)
c.186C>A (p.Pro62=)
c.333C>A (p.Pro111=)
n.392C>A
c.450C>A (p.Pro150=)
c.561C>A (p.Pro187=)
gnomAD v4
19g.1105786C=CA2317520136GPX4c.564C= (p.Pro188=)
c.372C= (p.Pro124=)
c.447C= (p.Pro149=)
c.69C= (p.Pro23=)
c.453C= (p.Pro151=)
c.186C= (p.Pro62=)
c.333C= (p.Pro111=)
n.392C=
c.450C= (p.Pro150=)
c.561C= (p.Pro187=)
19g.1105786C>GCA504694663GPX4c.564C>G (p.Pro188=)
c.372C>G (p.Pro124=)
c.447C>G (p.Pro149=)
c.69C>G (p.Pro23=)
c.453C>G (p.Pro151=)
c.186C>G (p.Pro62=)
c.333C>G (p.Pro111=)
n.392C>G
c.450C>G (p.Pro150=)
c.561C>G (p.Pro187=)
19g.1105786C>TCA504694667GPX4c.564C>T (p.Pro188=)
c.372C>T (p.Pro124=)
c.447C>T (p.Pro149=)
c.69C>T (p.Pro23=)
c.453C>T (p.Pro151=)
c.186C>T (p.Pro62=)
c.333C>T (p.Pro111=)
n.392C>T
c.450C>T (p.Pro150=)
c.561C>T (p.Pro187=)
dbSNP gnomAD v2 gnomAD v4
19g.1105794_1105799dupCA920035429GPX4c.572_577dup (p.Gly192_Ile193insLysGly)
c.380_385dup (p.Gly128_Ile129insLysGly)
c.455_460dup (p.Gly153_Ile154insLysGly)
c.77_82dup (p.Gly27_Ile28insLysGly)
c.461_466dup (p.Gly155_Ile156insLysGly)
c.194_199dup (p.Gly66_Ile67insLysGly)
c.341_346dup (p.Gly115_Ile116insLysGly)
n.400_405dup
c.458_463dup (p.Gly154_Ile155insLysGly)
c.569_574dup (p.Gly191_Ile192insLysGly)
dbSNP
19g.1105787A>CCA402937669GPX4c.565A>C (p.Lys189Gln)
c.373A>C (p.Lys125Gln)
c.448A>C (p.Lys150Gln)
c.70A>C (p.Lys24Gln)
c.454A>C (p.Lys152Gln)
c.187A>C (p.Lys63Gln)
c.334A>C (p.Lys112Gln)
n.393A>C
c.451A>C (p.Lys151Gln)
c.562A>C (p.Lys188Gln)
19g.1105787A>GCA402937668GPX4c.565A>G (p.Lys189Glu)
c.373A>G (p.Lys125Glu)
c.448A>G (p.Lys150Glu)
c.70A>G (p.Lys24Glu)
c.454A>G (p.Lys152Glu)
c.187A>G (p.Lys63Glu)
c.334A>G (p.Lys112Glu)
n.393A>G
c.451A>G (p.Lys151Glu)
c.562A>G (p.Lys188Glu)
19g.1105787A>TCA402937667GPX4c.565A>T (p.Lys189Ter)
c.373A>T (p.Lys125Ter)
c.448A>T (p.Lys150Ter)
c.70A>T (p.Lys24Ter)
c.454A>T (p.Lys152Ter)
c.187A>T (p.Lys63Ter)
c.334A>T (p.Lys112Ter)
n.393A>T
c.451A>T (p.Lys151Ter)
c.562A>T (p.Lys188Ter)
19g.1105788A=CA2317520137GPX4c.566A= (p.Lys189=)
c.374A= (p.Lys125=)
c.449A= (p.Lys150=)
c.71A= (p.Lys24=)
c.455A= (p.Lys152=)
c.188A= (p.Lys63=)
c.335A= (p.Lys112=)
n.394A=
c.452A= (p.Lys151=)
c.563A= (p.Lys188=)
19g.1105788A>CCA402937670GPX4c.566A>C (p.Lys189Thr)
c.374A>C (p.Lys125Thr)
c.449A>C (p.Lys150Thr)
c.71A>C (p.Lys24Thr)
c.455A>C (p.Lys152Thr)
c.188A>C (p.Lys63Thr)
c.335A>C (p.Lys112Thr)
n.394A>C
c.452A>C (p.Lys151Thr)
c.563A>C (p.Lys188Thr)
19g.1105788A>GCA9037363GPX4c.566A>G (p.Lys189Arg)
c.374A>G (p.Lys125Arg)
c.449A>G (p.Lys150Arg)
c.71A>G (p.Lys24Arg)
c.455A>G (p.Lys152Arg)
c.188A>G (p.Lys63Arg)
c.335A>G (p.Lys112Arg)
n.394A>G
c.452A>G (p.Lys151Arg)
c.563A>G (p.Lys188Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1105788A>TCA402937671GPX4c.566A>T (p.Lys189Met)
c.374A>T (p.Lys125Met)
c.449A>T (p.Lys150Met)
c.71A>T (p.Lys24Met)
c.455A>T (p.Lys152Met)
c.188A>T (p.Lys63Met)
c.335A>T (p.Lys112Met)
n.394A>T
c.452A>T (p.Lys151Met)
c.563A>T (p.Lys188Met)
19g.1105789G>ACA9037364GPX4c.567G>A (p.Lys189=)
c.375G>A (p.Lys125=)
c.450G>A (p.Lys150=)
c.72G>A (p.Lys24=)
c.456G>A (p.Lys152=)
c.189G>A (p.Lys63=)
c.336G>A (p.Lys112=)
n.395G>A
c.453G>A (p.Lys151=)
c.564G>A (p.Lys188=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1105789G>CCA402937672GPX4c.567G>C (p.Lys189Asn)
c.375G>C (p.Lys125Asn)
c.450G>C (p.Lys150Asn)
c.72G>C (p.Lys24Asn)
c.456G>C (p.Lys152Asn)
c.189G>C (p.Lys63Asn)
c.336G>C (p.Lys112Asn)
n.395G>C
c.453G>C (p.Lys151Asn)
c.564G>C (p.Lys188Asn)
dbSNP gnomAD v2 gnomAD v4
19g.1105789G=CA2317520138GPX4c.567G= (p.Lys189=)
c.375G= (p.Lys125=)
c.450G= (p.Lys150=)
c.72G= (p.Lys24=)
c.456G= (p.Lys152=)
c.189G= (p.Lys63=)
c.336G= (p.Lys112=)
n.395G=
c.453G= (p.Lys151=)
c.564G= (p.Lys188=)
19g.1105789G>TCA402937673GPX4c.567G>T (p.Lys189Asn)
c.375G>T (p.Lys125Asn)
c.450G>T (p.Lys150Asn)
c.72G>T (p.Lys24Asn)
c.456G>T (p.Lys152Asn)
c.189G>T (p.Lys63Asn)
c.336G>T (p.Lys112Asn)
n.395G>T
c.453G>T (p.Lys151Asn)
c.564G>T (p.Lys188Asn)
gnomAD v4
19g.1105790G>ACA402937674GPX4c.568G>A (p.Gly190Ser)
c.376G>A (p.Gly126Ser)
c.451G>A (p.Gly151Ser)
c.73G>A (p.Gly25Ser)
c.457G>A (p.Gly153Ser)
c.190G>A (p.Gly64Ser)
c.337G>A (p.Gly113Ser)
n.396G>A
c.454G>A (p.Gly152Ser)
c.565G>A (p.Gly189Ser)
gnomAD v4
19g.1105790G>CCA402937676GPX4c.568G>C (p.Gly190Arg)
c.376G>C (p.Gly126Arg)
c.451G>C (p.Gly151Arg)
c.73G>C (p.Gly25Arg)
c.457G>C (p.Gly153Arg)
c.190G>C (p.Gly64Arg)
c.337G>C (p.Gly113Arg)
n.396G>C
c.454G>C (p.Gly152Arg)
c.565G>C (p.Gly189Arg)
19g.1105790G>TCA402937675GPX4c.568G>T (p.Gly190Cys)
c.376G>T (p.Gly126Cys)
c.451G>T (p.Gly151Cys)
c.73G>T (p.Gly25Cys)
c.457G>T (p.Gly153Cys)
c.190G>T (p.Gly64Cys)
c.337G>T (p.Gly113Cys)
n.396G>T
c.454G>T (p.Gly152Cys)
c.565G>T (p.Gly189Cys)
19g.1105791G>ACA402937677GPX4c.569G>A (p.Gly190Asp)
c.377G>A (p.Gly126Asp)
c.452G>A (p.Gly151Asp)
c.74G>A (p.Gly25Asp)
c.458G>A (p.Gly153Asp)
c.191G>A (p.Gly64Asp)
c.338G>A (p.Gly113Asp)
n.397G>A
c.455G>A (p.Gly152Asp)
c.566G>A (p.Gly189Asp)
dbSNP gnomAD v3 gnomAD v4
19g.1105791G>CCA402937678GPX4c.569G>C (p.Gly190Ala)
c.377G>C (p.Gly126Ala)
c.452G>C (p.Gly151Ala)
c.74G>C (p.Gly25Ala)
c.458G>C (p.Gly153Ala)
c.191G>C (p.Gly64Ala)
c.338G>C (p.Gly113Ala)
n.397G>C
c.455G>C (p.Gly152Ala)
c.566G>C (p.Gly189Ala)
19g.1105791G=CA2317520139GPX4c.569G= (p.Gly190=)
c.377G= (p.Gly126=)
c.452G= (p.Gly151=)
c.74G= (p.Gly25=)
c.458G= (p.Gly153=)
c.191G= (p.Gly64=)
c.338G= (p.Gly113=)
n.397G=
c.455G= (p.Gly152=)
c.566G= (p.Gly189=)
19g.1105791G>TCA9037365GPX4c.569G>T (p.Gly190Val)
c.377G>T (p.Gly126Val)
c.452G>T (p.Gly151Val)
c.74G>T (p.Gly25Val)
c.458G>T (p.Gly153Val)
c.191G>T (p.Gly64Val)
c.338G>T (p.Gly113Val)
n.397G>T
c.455G>T (p.Gly152Val)
c.566G>T (p.Gly189Val)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1105792C>ACA504694674GPX4c.570C>A (p.Gly190=)
c.378C>A (p.Gly126=)
c.453C>A (p.Gly151=)
c.75C>A (p.Gly25=)
c.459C>A (p.Gly153=)
c.192C>A (p.Gly64=)
c.339C>A (p.Gly113=)
n.398C>A
c.456C>A (p.Gly152=)
c.567C>A (p.Gly189=)
gnomAD v4
19g.1105792C>GCA504694676GPX4c.570C>G (p.Gly190=)
c.378C>G (p.Gly126=)
c.453C>G (p.Gly151=)
c.75C>G (p.Gly25=)
c.459C>G (p.Gly153=)
c.192C>G (p.Gly64=)
c.339C>G (p.Gly113=)
n.398C>G
c.456C>G (p.Gly152=)
c.567C>G (p.Gly189=)
gnomAD v4
19g.1105792C>TCA504694677GPX4c.570C>T (p.Gly190=)
c.378C>T (p.Gly126=)
c.453C>T (p.Gly151=)
c.75C>T (p.Gly25=)
c.459C>T (p.Gly153=)
c.192C>T (p.Gly64=)
c.339C>T (p.Gly113=)
n.398C>T
c.456C>T (p.Gly152=)
c.567C>T (p.Gly189=)
19g.1105793A>CCA402937679GPX4c.571A>C (p.Lys191Gln)
c.379A>C (p.Lys127Gln)
c.454A>C (p.Lys152Gln)
c.76A>C (p.Lys26Gln)
c.460A>C (p.Lys154Gln)
c.193A>C (p.Lys65Gln)
c.340A>C (p.Lys114Gln)
n.399A>C
c.457A>C (p.Lys153Gln)
c.568A>C (p.Lys190Gln)
19g.1105793A>GCA402937680GPX4c.571A>G (p.Lys191Glu)
c.379A>G (p.Lys127Glu)
c.454A>G (p.Lys152Glu)
c.76A>G (p.Lys26Glu)
c.460A>G (p.Lys154Glu)
c.193A>G (p.Lys65Glu)
c.340A>G (p.Lys114Glu)
n.399A>G
c.457A>G (p.Lys153Glu)
c.568A>G (p.Lys190Glu)
19g.1105793A>TCA402937681GPX4c.571A>T (p.Lys191Ter)
c.379A>T (p.Lys127Ter)
c.454A>T (p.Lys152Ter)
c.76A>T (p.Lys26Ter)
c.460A>T (p.Lys154Ter)
c.193A>T (p.Lys65Ter)
c.340A>T (p.Lys114Ter)
n.399A>T
c.457A>T (p.Lys153Ter)
c.568A>T (p.Lys190Ter)
19g.1105794A=CA2317520140GPX4c.572A= (p.Lys191=)
c.380A= (p.Lys127=)
c.455A= (p.Lys152=)
c.77A= (p.Lys26=)
c.461A= (p.Lys154=)
c.194A= (p.Lys65=)
c.341A= (p.Lys114=)
n.400A=
c.458A= (p.Lys153=)
c.569A= (p.Lys190=)
19g.1105794A>CCA402937682GPX4c.572A>C (p.Lys191Thr)
c.380A>C (p.Lys127Thr)
c.455A>C (p.Lys152Thr)
c.77A>C (p.Lys26Thr)
c.461A>C (p.Lys154Thr)
c.194A>C (p.Lys65Thr)
c.341A>C (p.Lys114Thr)
n.400A>C
c.458A>C (p.Lys153Thr)
c.569A>C (p.Lys190Thr)
19g.1105794A>GCA402937683GPX4c.572A>G (p.Lys191Arg)
c.380A>G (p.Lys127Arg)
c.455A>G (p.Lys152Arg)
c.77A>G (p.Lys26Arg)
c.461A>G (p.Lys154Arg)
c.194A>G (p.Lys65Arg)
c.341A>G (p.Lys114Arg)
n.400A>G
c.458A>G (p.Lys153Arg)
c.569A>G (p.Lys190Arg)
dbSNP gnomAD v4
19g.1105794A>TCA402937684GPX4c.572A>T (p.Lys191Met)
c.380A>T (p.Lys127Met)
c.455A>T (p.Lys152Met)
c.77A>T (p.Lys26Met)
c.461A>T (p.Lys154Met)
c.194A>T (p.Lys65Met)
c.341A>T (p.Lys114Met)
n.400A>T
c.458A>T (p.Lys153Met)
c.569A>T (p.Lys190Met)
19g.1105795G>ACA504694680GPX4c.573G>A (p.Lys191=)
c.381G>A (p.Lys127=)
c.456G>A (p.Lys152=)
c.78G>A (p.Lys26=)
c.462G>A (p.Lys154=)
c.195G>A (p.Lys65=)
c.342G>A (p.Lys114=)
n.401G>A
c.459G>A (p.Lys153=)
c.570G>A (p.Lys190=)
dbSNP gnomAD v4
19g.1105795G>CCA9037366GPX4c.573G>C (p.Lys191Asn)
c.381G>C (p.Lys127Asn)
c.456G>C (p.Lys152Asn)
c.78G>C (p.Lys26Asn)
c.462G>C (p.Lys154Asn)
c.195G>C (p.Lys65Asn)
c.342G>C (p.Lys114Asn)
n.401G>C
c.459G>C (p.Lys153Asn)
c.570G>C (p.Lys190Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1105795G=CA2317520141GPX4c.573G= (p.Lys191=)
c.381G= (p.Lys127=)
c.456G= (p.Lys152=)
c.78G= (p.Lys26=)
c.462G= (p.Lys154=)
c.195G= (p.Lys65=)
c.342G= (p.Lys114=)
n.401G=
c.459G= (p.Lys153=)
c.570G= (p.Lys190=)
19g.1105795G>TCA402937685GPX4c.573G>T (p.Lys191Asn)
c.381G>T (p.Lys127Asn)
c.456G>T (p.Lys152Asn)
c.78G>T (p.Lys26Asn)
c.462G>T (p.Lys154Asn)
c.195G>T (p.Lys65Asn)
c.342G>T (p.Lys114Asn)
n.401G>T
c.459G>T (p.Lys153Asn)
c.570G>T (p.Lys190Asn)
gnomAD v4
19g.1105796G>ACA402937686GPX4c.574G>A (p.Gly192Ser)
c.382G>A (p.Gly128Ser)
c.457G>A (p.Gly153Ser)
c.79G>A (p.Gly27Ser)
c.463G>A (p.Gly155Ser)
c.196G>A (p.Gly66Ser)
c.343G>A (p.Gly115Ser)
n.402G>A
c.460G>A (p.Gly154Ser)
c.571G>A (p.Gly191Ser)
gnomAD v4
19g.1105796G>CCA402937688GPX4c.574G>C (p.Gly192Arg)
c.382G>C (p.Gly128Arg)
c.457G>C (p.Gly153Arg)
c.79G>C (p.Gly27Arg)
c.463G>C (p.Gly155Arg)
c.196G>C (p.Gly66Arg)
c.343G>C (p.Gly115Arg)
n.402G>C
c.460G>C (p.Gly154Arg)
c.571G>C (p.Gly191Arg)
19g.1105796G>TCA402937687GPX4c.574G>T (p.Gly192Cys)
c.382G>T (p.Gly128Cys)
c.457G>T (p.Gly153Cys)
c.79G>T (p.Gly27Cys)
c.463G>T (p.Gly155Cys)
c.196G>T (p.Gly66Cys)
c.343G>T (p.Gly115Cys)
n.402G>T
c.460G>T (p.Gly154Cys)
c.571G>T (p.Gly191Cys)
gnomAD v4
19g.1105797G>ACA402937689GPX4c.575G>A (p.Gly192Asp)
c.383G>A (p.Gly128Asp)
c.458G>A (p.Gly153Asp)
c.80G>A (p.Gly27Asp)
c.464G>A (p.Gly155Asp)
c.197G>A (p.Gly66Asp)
c.344G>A (p.Gly115Asp)
n.403G>A
c.461G>A (p.Gly154Asp)
c.572G>A (p.Gly191Asp)
dbSNP gnomAD v2 gnomAD v4
19g.1105797G>CCA402937691GPX4c.575G>C (p.Gly192Ala)
c.383G>C (p.Gly128Ala)
c.458G>C (p.Gly153Ala)
c.80G>C (p.Gly27Ala)
c.464G>C (p.Gly155Ala)
c.197G>C (p.Gly66Ala)
c.344G>C (p.Gly115Ala)
n.403G>C
c.461G>C (p.Gly154Ala)
c.572G>C (p.Gly191Ala)
gnomAD v4
19g.1105797G=CA2317520142GPX4c.575G= (p.Gly192=)
c.383G= (p.Gly128=)
c.458G= (p.Gly153=)
c.80G= (p.Gly27=)
c.464G= (p.Gly155=)
c.197G= (p.Gly66=)
c.344G= (p.Gly115=)
n.403G=
c.461G= (p.Gly154=)
c.572G= (p.Gly191=)
19g.1105797G>TCA402937690GPX4c.575G>T (p.Gly192Val)
c.383G>T (p.Gly128Val)
c.458G>T (p.Gly153Val)
c.80G>T (p.Gly27Val)
c.464G>T (p.Gly155Val)
c.197G>T (p.Gly66Val)
c.344G>T (p.Gly115Val)
n.403G>T
c.461G>T (p.Gly154Val)
c.572G>T (p.Gly191Val)
19g.1105798C>ACA504694682GPX4c.576C>A (p.Gly192=)
c.384C>A (p.Gly128=)
c.459C>A (p.Gly153=)
c.81C>A (p.Gly27=)
c.465C>A (p.Gly155=)
c.198C>A (p.Gly66=)
c.345C>A (p.Gly115=)
n.404C>A
c.462C>A (p.Gly154=)
c.573C>A (p.Gly191=)
gnomAD v4
19g.1105798C>GCA504694684GPX4c.576C>G (p.Gly192=)
c.384C>G (p.Gly128=)
c.459C>G (p.Gly153=)
c.81C>G (p.Gly27=)
c.465C>G (p.Gly155=)
c.198C>G (p.Gly66=)
c.345C>G (p.Gly115=)
n.404C>G
c.462C>G (p.Gly154=)
c.573C>G (p.Gly191=)
19g.1105798C>TCA504694685GPX4c.576C>T (p.Gly192=)
c.384C>T (p.Gly128=)
c.459C>T (p.Gly153=)
c.81C>T (p.Gly27=)
c.465C>T (p.Gly155=)
c.198C>T (p.Gly66=)
c.345C>T (p.Gly115=)
n.404C>T
c.462C>T (p.Gly154=)
c.573C>T (p.Gly191=)
19g.1105799A=CA2317520143GPX4c.577A= (p.Ile193=)
c.385A= (p.Ile129=)
c.460A= (p.Ile154=)
c.82A= (p.Ile28=)
c.466A= (p.Ile156=)
c.199A= (p.Ile67=)
c.346A= (p.Ile116=)
n.405A=
c.463A= (p.Ile155=)
c.574A= (p.Ile192=)
19g.1105799A>CCA9037367GPX4c.577A>C (p.Ile193Leu)
c.385A>C (p.Ile129Leu)
c.460A>C (p.Ile154Leu)
c.82A>C (p.Ile28Leu)
c.466A>C (p.Ile156Leu)
c.199A>C (p.Ile67Leu)
c.346A>C (p.Ile116Leu)
n.405A>C
c.463A>C (p.Ile155Leu)
c.574A>C (p.Ile192Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1105799A>GCA402937693GPX4c.577A>G (p.Ile193Val)
c.385A>G (p.Ile129Val)
c.460A>G (p.Ile154Val)
c.82A>G (p.Ile28Val)
c.466A>G (p.Ile156Val)
c.199A>G (p.Ile67Val)
c.346A>G (p.Ile116Val)
n.405A>G
c.463A>G (p.Ile155Val)
c.574A>G (p.Ile192Val)
19g.1105799A>TCA402937692GPX4c.577A>T (p.Ile193Phe)
c.385A>T (p.Ile129Phe)
c.460A>T (p.Ile154Phe)
c.82A>T (p.Ile28Phe)
c.466A>T (p.Ile156Phe)
c.199A>T (p.Ile67Phe)
c.346A>T (p.Ile116Phe)
n.405A>T
c.463A>T (p.Ile155Phe)
c.574A>T (p.Ile192Phe)
gnomAD v4
19g.1105800T>ACA402937694GPX4c.578T>A (p.Ile193Asn)
c.386T>A (p.Ile129Asn)
c.461T>A (p.Ile154Asn)
c.83T>A (p.Ile28Asn)
c.467T>A (p.Ile156Asn)
c.200T>A (p.Ile67Asn)
c.347T>A (p.Ile116Asn)
n.406T>A
c.464T>A (p.Ile155Asn)
c.575T>A (p.Ile192Asn)
19g.1105800T>CCA402937695GPX4c.578T>C (p.Ile193Thr)
c.386T>C (p.Ile129Thr)
c.461T>C (p.Ile154Thr)
c.83T>C (p.Ile28Thr)
c.467T>C (p.Ile156Thr)
c.200T>C (p.Ile67Thr)
c.347T>C (p.Ile116Thr)
n.406T>C
c.464T>C (p.Ile155Thr)
c.575T>C (p.Ile192Thr)
19g.1105800T>GCA402937696GPX4c.578T>G (p.Ile193Ser)
c.386T>G (p.Ile129Ser)
c.461T>G (p.Ile154Ser)
c.83T>G (p.Ile28Ser)
c.467T>G (p.Ile156Ser)
c.200T>G (p.Ile67Ser)
c.347T>G (p.Ile116Ser)
n.406T>G
c.464T>G (p.Ile155Ser)
c.575T>G (p.Ile192Ser)
19g.1105801C>ACA504694687GPX4c.579C>A (p.Ile193=)
c.387C>A (p.Ile129=)
c.462C>A (p.Ile154=)
c.84C>A (p.Ile28=)
c.468C>A (p.Ile156=)
c.201C>A (p.Ile67=)
c.348C>A (p.Ile116=)
n.407C>A
c.465C>A (p.Ile155=)
c.576C>A (p.Ile192=)
gnomAD v4
19g.1105801C=CA2317520144GPX4c.579C= (p.Ile193=)
c.387C= (p.Ile129=)
c.462C= (p.Ile154=)
c.84C= (p.Ile28=)
c.468C= (p.Ile156=)
c.201C= (p.Ile67=)
c.348C= (p.Ile116=)
n.407C=
c.465C= (p.Ile155=)
c.576C= (p.Ile192=)
19g.1105801C>GCA402937697GPX4c.579C>G (p.Ile193Met)
c.387C>G (p.Ile129Met)
c.462C>G (p.Ile154Met)
c.84C>G (p.Ile28Met)
c.468C>G (p.Ile156Met)
c.201C>G (p.Ile67Met)
c.348C>G (p.Ile116Met)
n.407C>G
c.465C>G (p.Ile155Met)
c.576C>G (p.Ile192Met)
dbSNP gnomAD v2 gnomAD v4
19g.1105801C>TCA303994023GPX4c.579C>T (p.Ile193=)
c.387C>T (p.Ile129=)
c.462C>T (p.Ile154=)
c.84C>T (p.Ile28=)
c.468C>T (p.Ile156=)
c.201C>T (p.Ile67=)
c.348C>T (p.Ile116=)
n.407C>T
c.465C>T (p.Ile155=)
c.576C>T (p.Ile192=)
dbSNP gnomAD v3 gnomAD v4
19g.1105802C>ACA402937698GPX4c.580C>A (p.Leu194Met)
c.388C>A (p.Leu130Met)
c.463C>A (p.Leu155Met)
c.85C>A (p.Leu29Met)
c.469C>A (p.Leu157Met)
c.202C>A (p.Leu68Met)
c.349C>A (p.Leu117Met)
n.408C>A
c.466C>A (p.Leu156Met)
c.577C>A (p.Leu193Met)
gnomAD v4
19g.1105802C>GCA402937699GPX4c.580C>G (p.Leu194Val)
c.388C>G (p.Leu130Val)
c.463C>G (p.Leu155Val)
c.85C>G (p.Leu29Val)
c.469C>G (p.Leu157Val)
c.202C>G (p.Leu68Val)
c.349C>G (p.Leu117Val)
n.408C>G
c.466C>G (p.Leu156Val)
c.577C>G (p.Leu193Val)
gnomAD v4
19g.1105802C>TCA504694691GPX4c.580C>T (p.Leu194=)
c.388C>T (p.Leu130=)
c.463C>T (p.Leu155=)
c.85C>T (p.Leu29=)
c.469C>T (p.Leu157=)
c.202C>T (p.Leu68=)
c.349C>T (p.Leu117=)
n.408C>T
c.466C>T (p.Leu156=)
c.577C>T (p.Leu193=)
gnomAD v4

Number of alleles fetched