Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.1106462_1106541delCA2813238558GPX4c.672+3_674del
c.541+3_543del
c.555+3_557del
c.177+3_179del
c.561+3_563del
c.536+3_538del
c.294+3_295-32del
c.441+3_443del
c.502+3_504del
n.932+3_934del
c.480+3_482del
c.558+3_560del
c.669+3_671del
c.583+3_585del
19g.1106517_1106524delCA2588207867GPX4c.673-23_673-16del (n.673-23_673-16del)
c.542-23_542-16del (n.542-23_542-16del)
c.556-23_556-16del (n.556-23_556-16del)
c.178-23_178-16del (n.178-23_178-16del)
c.562-23_562-16del (n.562-23_562-16del)
c.537-23_537-16del (n.537-23_537-16del)
c.295-56_295-49del (n.295-56_295-49del)
c.442-23_442-16del (n.442-23_442-16del)
c.503-23_503-16del (n.503-23_503-16del)
n.933-23_933-16del
c.481-23_481-16del (n.481-23_481-16del)
c.559-23_559-16del (n.559-23_559-16del)
c.670-23_670-16del (n.670-23_670-16del)
c.584-23_584-16del (n.584-23_584-16del)
gnomAD v4
19g.1106523G>ACA783225519GPX4c.673-17G>A (n.673-17G>A)
c.542-17G>A (n.542-17G>A)
c.556-17G>A (n.556-17G>A)
c.178-17G>A (n.178-17G>A)
c.562-17G>A (n.562-17G>A)
c.537-17G>A (n.537-17G>A)
c.295-50G>A (n.295-50G>A)
c.442-17G>A (n.442-17G>A)
c.503-17G>A (n.503-17G>A)
n.933-17G>A
c.481-17G>A (n.481-17G>A)
c.559-17G>A (n.559-17G>A)
c.670-17G>A (n.670-17G>A)
c.584-17G>A (n.584-17G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.1106523G>CCA303995189GPX4c.673-17G>C (n.673-17G>C)
c.542-17G>C (n.542-17G>C)
c.556-17G>C (n.556-17G>C)
c.178-17G>C (n.178-17G>C)
c.562-17G>C (n.562-17G>C)
c.537-17G>C (n.537-17G>C)
c.295-50G>C (n.295-50G>C)
c.442-17G>C (n.442-17G>C)
c.503-17G>C (n.503-17G>C)
n.933-17G>C
c.481-17G>C (n.481-17G>C)
c.559-17G>C (n.559-17G>C)
c.670-17G>C (n.670-17G>C)
c.584-17G>C (n.584-17G>C)
dbSNP gnomAD v4
19g.1106523G=CA2317520723GPX4c.673-17G= (n.673-17G=)
c.542-17G= (n.542-17G=)
c.556-17G= (n.556-17G=)
c.178-17G= (n.178-17G=)
c.562-17G= (n.562-17G=)
c.537-17G= (n.537-17G=)
c.295-50G= (n.295-50G=)
c.442-17G= (n.442-17G=)
c.503-17G= (n.503-17G=)
n.933-17G=
c.481-17G= (n.481-17G=)
c.559-17G= (n.559-17G=)
c.670-17G= (n.670-17G=)
c.584-17G= (n.584-17G=)
19g.1106525T>CCA2588207870GPX4c.673-15T>C (n.673-15T>C)
c.542-15T>C (n.542-15T>C)
c.556-15T>C (n.556-15T>C)
c.178-15T>C (n.178-15T>C)
c.562-15T>C (n.562-15T>C)
c.537-15T>C (n.537-15T>C)
c.295-48T>C (n.295-48T>C)
c.442-15T>C (n.442-15T>C)
c.503-15T>C (n.503-15T>C)
n.933-15T>C
c.481-15T>C (n.481-15T>C)
c.559-15T>C (n.559-15T>C)
c.670-15T>C (n.670-15T>C)
c.584-15T>C (n.584-15T>C)
gnomAD v4
19g.1106526T>CCA2317520725GPX4c.673-14T>C (n.673-14T>C)
c.542-14T>C (n.542-14T>C)
c.556-14T>C (n.556-14T>C)
c.178-14T>C (n.178-14T>C)
c.562-14T>C (n.562-14T>C)
c.537-14T>C (n.537-14T>C)
c.295-47T>C (n.295-47T>C)
c.442-14T>C (n.442-14T>C)
c.503-14T>C (n.503-14T>C)
n.933-14T>C
c.481-14T>C (n.481-14T>C)
c.559-14T>C (n.559-14T>C)
c.670-14T>C (n.670-14T>C)
c.584-14T>C (n.584-14T>C)
dbSNP gnomAD v4
19g.1106526T=CA2317520724GPX4c.673-14T= (n.673-14T=)
c.542-14T= (n.542-14T=)
c.556-14T= (n.556-14T=)
c.178-14T= (n.178-14T=)
c.562-14T= (n.562-14T=)
c.537-14T= (n.537-14T=)
c.295-47T= (n.295-47T=)
c.442-14T= (n.442-14T=)
c.503-14T= (n.503-14T=)
n.933-14T=
c.481-14T= (n.481-14T=)
c.559-14T= (n.559-14T=)
c.670-14T= (n.670-14T=)
c.584-14T= (n.584-14T=)
19g.1106527_1106528insGCCAGGGGCCCA2588207871GPX4c.673-13_673-12insGCCAGGGGCC (n.673-13_673-12insGCCAGGGGCC)
c.542-13_542-12insGCCAGGGGCC (n.542-13_542-12insGCCAGGGGCC)
c.556-13_556-12insGCCAGGGGCC (n.556-13_556-12insGCCAGGGGCC)
c.178-13_178-12insGCCAGGGGCC (n.178-13_178-12insGCCAGGGGCC)
c.562-13_562-12insGCCAGGGGCC (n.562-13_562-12insGCCAGGGGCC)
c.537-13_537-12insGCCAGGGGCC (n.537-13_537-12insGCCAGGGGCC)
c.295-46_295-45insGCCAGGGGCC (n.295-46_295-45insGCCAGGGGCC)
c.442-13_442-12insGCCAGGGGCC (n.442-13_442-12insGCCAGGGGCC)
c.503-13_503-12insGCCAGGGGCC (n.503-13_503-12insGCCAGGGGCC)
n.933-13_933-12insGCCAGGGGCC
c.481-13_481-12insGCCAGGGGCC (n.481-13_481-12insGCCAGGGGCC)
c.559-13_559-12insGCCAGGGGCC (n.559-13_559-12insGCCAGGGGCC)
c.670-13_670-12insGCCAGGGGCC (n.670-13_670-12insGCCAGGGGCC)
c.584-13_584-12insGCCAGGGGCC (n.584-13_584-12insGCCAGGGGCC)
gnomAD v4
19g.1106528C=CA2317520726GPX4c.673-12C= (n.673-12C=)
c.542-12C= (n.542-12C=)
c.556-12C= (n.556-12C=)
c.178-12C= (n.178-12C=)
c.562-12C= (n.562-12C=)
c.537-12C= (n.537-12C=)
c.295-45C= (n.295-45C=)
c.442-12C= (n.442-12C=)
c.503-12C= (n.503-12C=)
n.933-12C=
c.481-12C= (n.481-12C=)
c.559-12C= (n.559-12C=)
c.670-12C= (n.670-12C=)
c.584-12C= (n.584-12C=)
19g.1106528C>TCA2317520727GPX4c.673-12C>T (n.673-12C>T)
c.542-12C>T (n.542-12C>T)
c.556-12C>T (n.556-12C>T)
c.178-12C>T (n.178-12C>T)
c.562-12C>T (n.562-12C>T)
c.537-12C>T (n.537-12C>T)
c.295-45C>T (n.295-45C>T)
c.442-12C>T (n.442-12C>T)
c.503-12C>T (n.503-12C>T)
n.933-12C>T
c.481-12C>T (n.481-12C>T)
c.559-12C>T (n.559-12C>T)
c.670-12C>T (n.670-12C>T)
c.584-12C>T (n.584-12C>T)
dbSNP
19g.1106529C=CA2317520729GPX4c.673-11C= (n.673-11C=)
c.542-11C= (n.542-11C=)
c.556-11C= (n.556-11C=)
c.178-11C= (n.178-11C=)
c.562-11C= (n.562-11C=)
c.537-11C= (n.537-11C=)
c.295-44C= (n.295-44C=)
c.442-11C= (n.442-11C=)
c.503-11C= (n.503-11C=)
n.933-11C=
c.481-11C= (n.481-11C=)
c.559-11C= (n.559-11C=)
c.670-11C= (n.670-11C=)
c.584-11C= (n.584-11C=)
19g.1106529C>GCA2317520728GPX4c.673-11C>G (n.673-11C>G)
c.542-11C>G (n.542-11C>G)
c.556-11C>G (n.556-11C>G)
c.178-11C>G (n.178-11C>G)
c.562-11C>G (n.562-11C>G)
c.537-11C>G (n.537-11C>G)
c.295-44C>G (n.295-44C>G)
c.442-11C>G (n.442-11C>G)
c.503-11C>G (n.503-11C>G)
n.933-11C>G
c.481-11C>G (n.481-11C>G)
c.559-11C>G (n.559-11C>G)
c.670-11C>G (n.670-11C>G)
c.584-11C>G (n.584-11C>G)
dbSNP
19g.1106529C>TCA303995193GPX4c.673-11C>T (n.673-11C>T)
c.542-11C>T (n.542-11C>T)
c.556-11C>T (n.556-11C>T)
c.178-11C>T (n.178-11C>T)
c.562-11C>T (n.562-11C>T)
c.537-11C>T (n.537-11C>T)
c.295-44C>T (n.295-44C>T)
c.442-11C>T (n.442-11C>T)
c.503-11C>T (n.503-11C>T)
n.933-11C>T
c.481-11C>T (n.481-11C>T)
c.559-11C>T (n.559-11C>T)
c.670-11C>T (n.670-11C>T)
c.584-11C>T (n.584-11C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1106531C>ACA2588207872GPX4c.673-9C>A (n.673-9C>A)
c.542-9C>A (n.542-9C>A)
c.556-9C>A (n.556-9C>A)
c.178-9C>A (n.178-9C>A)
c.562-9C>A (n.562-9C>A)
c.537-9C>A (n.537-9C>A)
c.295-42C>A (n.295-42C>A)
c.442-9C>A (n.442-9C>A)
c.503-9C>A (n.503-9C>A)
n.933-9C>A
c.481-9C>A (n.481-9C>A)
c.559-9C>A (n.559-9C>A)
c.670-9C>A (n.670-9C>A)
c.584-9C>A (n.584-9C>A)
gnomAD v4
19g.1106531C>TCA2588207873GPX4c.673-9C>T (n.673-9C>T)
c.542-9C>T (n.542-9C>T)
c.556-9C>T (n.556-9C>T)
c.178-9C>T (n.178-9C>T)
c.562-9C>T (n.562-9C>T)
c.537-9C>T (n.537-9C>T)
c.295-42C>T (n.295-42C>T)
c.442-9C>T (n.442-9C>T)
c.503-9C>T (n.503-9C>T)
n.933-9C>T
c.481-9C>T (n.481-9C>T)
c.559-9C>T (n.559-9C>T)
c.670-9C>T (n.670-9C>T)
c.584-9C>T (n.584-9C>T)
gnomAD v4
19g.1106532C>ACA2588207874GPX4c.673-8C>A (n.673-8C>A)
c.542-8C>A (n.542-8C>A)
c.556-8C>A (n.556-8C>A)
c.178-8C>A (n.178-8C>A)
c.562-8C>A (n.562-8C>A)
c.537-8C>A (n.537-8C>A)
c.295-41C>A (n.295-41C>A)
c.442-8C>A (n.442-8C>A)
c.503-8C>A (n.503-8C>A)
n.933-8C>A
c.481-8C>A (n.481-8C>A)
c.559-8C>A (n.559-8C>A)
c.670-8C>A (n.670-8C>A)
c.584-8C>A (n.584-8C>A)
gnomAD v4
19g.1106532C>TCA2588207875GPX4c.673-8C>T (n.673-8C>T)
c.542-8C>T (n.542-8C>T)
c.556-8C>T (n.556-8C>T)
c.178-8C>T (n.178-8C>T)
c.562-8C>T (n.562-8C>T)
c.537-8C>T (n.537-8C>T)
c.295-41C>T (n.295-41C>T)
c.442-8C>T (n.442-8C>T)
c.503-8C>T (n.503-8C>T)
n.933-8C>T
c.481-8C>T (n.481-8C>T)
c.559-8C>T (n.559-8C>T)
c.670-8C>T (n.670-8C>T)
c.584-8C>T (n.584-8C>T)
gnomAD v4
19g.1106532_1106533insATGTCA2588207876GPX4c.673-8_673-7insATGT (n.673-8_673-7insATGT)
c.542-8_542-7insATGT (n.542-8_542-7insATGT)
c.556-8_556-7insATGT (n.556-8_556-7insATGT)
c.178-8_178-7insATGT (n.178-8_178-7insATGT)
c.562-8_562-7insATGT (n.562-8_562-7insATGT)
c.537-8_537-7insATGT (n.537-8_537-7insATGT)
c.295-41_295-40insATGT (n.295-41_295-40insATGT)
c.442-8_442-7insATGT (n.442-8_442-7insATGT)
c.503-8_503-7insATGT (n.503-8_503-7insATGT)
n.933-8_933-7insATGT
c.481-8_481-7insATGT (n.481-8_481-7insATGT)
c.559-8_559-7insATGT (n.559-8_559-7insATGT)
c.670-8_670-7insATGT (n.670-8_670-7insATGT)
c.584-8_584-7insATGT (n.584-8_584-7insATGT)
gnomAD v4
19g.1106533C>ACA2588207877GPX4c.673-7C>A (n.673-7C>A)
c.542-7C>A (n.542-7C>A)
c.556-7C>A (n.556-7C>A)
c.178-7C>A (n.178-7C>A)
c.562-7C>A (n.562-7C>A)
c.537-7C>A (n.537-7C>A)
c.295-40C>A (n.295-40C>A)
c.442-7C>A (n.442-7C>A)
c.503-7C>A (n.503-7C>A)
n.933-7C>A
c.481-7C>A (n.481-7C>A)
c.559-7C>A (n.559-7C>A)
c.670-7C>A (n.670-7C>A)
c.584-7C>A (n.584-7C>A)
gnomAD v4
19g.1106533C=CA2317520730GPX4c.673-7C= (n.673-7C=)
c.542-7C= (n.542-7C=)
c.556-7C= (n.556-7C=)
c.178-7C= (n.178-7C=)
c.562-7C= (n.562-7C=)
c.537-7C= (n.537-7C=)
c.295-40C= (n.295-40C=)
c.442-7C= (n.442-7C=)
c.503-7C= (n.503-7C=)
n.933-7C=
c.481-7C= (n.481-7C=)
c.559-7C= (n.559-7C=)
c.670-7C= (n.670-7C=)
c.584-7C= (n.584-7C=)
19g.1106533C>GCA9037517GPX4c.673-7C>G (n.673-7C>G)
c.542-7C>G (n.542-7C>G)
c.556-7C>G (n.556-7C>G)
c.178-7C>G (n.178-7C>G)
c.562-7C>G (n.562-7C>G)
c.537-7C>G (n.537-7C>G)
c.295-40C>G (n.295-40C>G)
c.442-7C>G (n.442-7C>G)
c.503-7C>G (n.503-7C>G)
n.933-7C>G
c.481-7C>G (n.481-7C>G)
c.559-7C>G (n.559-7C>G)
c.670-7C>G (n.670-7C>G)
c.584-7C>G (n.584-7C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106533C>TCA631298699GPX4c.673-7C>T (n.673-7C>T)
c.542-7C>T (n.542-7C>T)
c.556-7C>T (n.556-7C>T)
c.178-7C>T (n.178-7C>T)
c.562-7C>T (n.562-7C>T)
c.537-7C>T (n.537-7C>T)
c.295-40C>T (n.295-40C>T)
c.442-7C>T (n.442-7C>T)
c.503-7C>T (n.503-7C>T)
n.933-7C>T
c.481-7C>T (n.481-7C>T)
c.559-7C>T (n.559-7C>T)
c.670-7C>T (n.670-7C>T)
c.584-7C>T (n.584-7C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1106533_1106534insAGCA2588207878GPX4c.673-7_673-6insAG (n.673-7_673-6insAG)
c.542-7_542-6insAG (n.542-7_542-6insAG)
c.556-7_556-6insAG (n.556-7_556-6insAG)
c.178-7_178-6insAG (n.178-7_178-6insAG)
c.562-7_562-6insAG (n.562-7_562-6insAG)
c.537-7_537-6insAG (n.537-7_537-6insAG)
c.295-40_295-39insAG (n.295-40_295-39insAG)
c.442-7_442-6insAG (n.442-7_442-6insAG)
c.503-7_503-6insAG (n.503-7_503-6insAG)
n.933-7_933-6insAG
c.481-7_481-6insAG (n.481-7_481-6insAG)
c.559-7_559-6insAG (n.559-7_559-6insAG)
c.670-7_670-6insAG (n.670-7_670-6insAG)
c.584-7_584-6insAG (n.584-7_584-6insAG)
gnomAD v4
19g.1106534C=CA2317520731GPX4c.673-6C= (n.673-6C=)
c.542-6C= (n.542-6C=)
c.556-6C= (n.556-6C=)
c.178-6C= (n.178-6C=)
c.562-6C= (n.562-6C=)
c.537-6C= (n.537-6C=)
c.295-39C= (n.295-39C=)
c.442-6C= (n.442-6C=)
c.503-6C= (n.503-6C=)
n.933-6C=
c.481-6C= (n.481-6C=)
c.559-6C= (n.559-6C=)
c.670-6C= (n.670-6C=)
c.584-6C= (n.584-6C=)
19g.1106534C>GCA9037518GPX4c.673-6C>G (n.673-6C>G)
c.542-6C>G (n.542-6C>G)
c.556-6C>G (n.556-6C>G)
c.178-6C>G (n.178-6C>G)
c.562-6C>G (n.562-6C>G)
c.537-6C>G (n.537-6C>G)
c.295-39C>G (n.295-39C>G)
c.442-6C>G (n.442-6C>G)
c.503-6C>G (n.503-6C>G)
n.933-6C>G
c.481-6C>G (n.481-6C>G)
c.559-6C>G (n.559-6C>G)
c.670-6C>G (n.670-6C>G)
c.584-6C>G (n.584-6C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106534C>TCA631298701GPX4c.673-6C>T (n.673-6C>T)
c.542-6C>T (n.542-6C>T)
c.556-6C>T (n.556-6C>T)
c.178-6C>T (n.178-6C>T)
c.562-6C>T (n.562-6C>T)
c.537-6C>T (n.537-6C>T)
c.295-39C>T (n.295-39C>T)
c.442-6C>T (n.442-6C>T)
c.503-6C>T (n.503-6C>T)
n.933-6C>T
c.481-6C>T (n.481-6C>T)
c.559-6C>T (n.559-6C>T)
c.670-6C>T (n.670-6C>T)
c.584-6C>T (n.584-6C>T)
dbSNP gnomAD v2 gnomAD v4
19g.1106535G>ACA9037519GPX4c.673-5G>A (n.673-5G>A)
c.542-5G>A (n.542-5G>A)
c.556-5G>A (n.556-5G>A)
c.178-5G>A (n.178-5G>A)
c.562-5G>A (n.562-5G>A)
c.537-5G>A (n.537-5G>A)
c.295-38G>A (n.295-38G>A)
c.442-5G>A (n.442-5G>A)
c.503-5G>A (n.503-5G>A)
n.933-5G>A
c.481-5G>A (n.481-5G>A)
c.559-5G>A (n.559-5G>A)
c.670-5G>A (n.670-5G>A)
c.584-5G>A (n.584-5G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106535G>CCA631298703GPX4c.673-5G>C (n.673-5G>C)
c.542-5G>C (n.542-5G>C)
c.556-5G>C (n.556-5G>C)
c.178-5G>C (n.178-5G>C)
c.562-5G>C (n.562-5G>C)
c.537-5G>C (n.537-5G>C)
c.295-38G>C (n.295-38G>C)
c.442-5G>C (n.442-5G>C)
c.503-5G>C (n.503-5G>C)
n.933-5G>C
c.481-5G>C (n.481-5G>C)
c.559-5G>C (n.559-5G>C)
c.670-5G>C (n.670-5G>C)
c.584-5G>C (n.584-5G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1106535G=CA2317520732GPX4c.673-5G= (n.673-5G=)
c.542-5G= (n.542-5G=)
c.556-5G= (n.556-5G=)
c.178-5G= (n.178-5G=)
c.562-5G= (n.562-5G=)
c.537-5G= (n.537-5G=)
c.295-38G= (n.295-38G=)
c.442-5G= (n.442-5G=)
c.503-5G= (n.503-5G=)
n.933-5G=
c.481-5G= (n.481-5G=)
c.559-5G= (n.559-5G=)
c.670-5G= (n.670-5G=)
c.584-5G= (n.584-5G=)
19g.1106535G>TCA2588207880GPX4c.673-5G>T (n.673-5G>T)
c.542-5G>T (n.542-5G>T)
c.556-5G>T (n.556-5G>T)
c.178-5G>T (n.178-5G>T)
c.562-5G>T (n.562-5G>T)
c.537-5G>T (n.537-5G>T)
c.295-38G>T (n.295-38G>T)
c.442-5G>T (n.442-5G>T)
c.503-5G>T (n.503-5G>T)
n.933-5G>T
c.481-5G>T (n.481-5G>T)
c.559-5G>T (n.559-5G>T)
c.670-5G>T (n.670-5G>T)
c.584-5G>T (n.584-5G>T)
gnomAD v4
19g.1106535_1106540dupCA2588207879GPX4c.673-5_673dup
c.542-5_542dup
c.556-5_556dup
c.178-5_178dup
c.562-5_562dup
c.537-5_537dup
c.295-38_295-33dup (n.295-38_295-33dup)
c.442-5_442dup
c.503-5_503dup
n.933-5_933dup
c.481-5_481dup
c.559-5_559dup
c.670-5_670dup
c.584-5_584dup
gnomAD v4
19g.1106536A=CA2317520733GPX4c.673-4A= (n.673-4A=)
c.542-4A= (n.542-4A=)
c.556-4A= (n.556-4A=)
c.178-4A= (n.178-4A=)
c.562-4A= (n.562-4A=)
c.537-4A= (n.537-4A=)
c.295-37A= (n.295-37A=)
c.442-4A= (n.442-4A=)
c.503-4A= (n.503-4A=)
n.933-4A=
c.481-4A= (n.481-4A=)
c.559-4A= (n.559-4A=)
c.670-4A= (n.670-4A=)
c.584-4A= (n.584-4A=)
19g.1106536A>GCA631298705GPX4c.673-4A>G (n.673-4A>G)
c.542-4A>G (n.542-4A>G)
c.556-4A>G (n.556-4A>G)
c.178-4A>G (n.178-4A>G)
c.562-4A>G (n.562-4A>G)
c.537-4A>G (n.537-4A>G)
c.295-37A>G (n.295-37A>G)
c.442-4A>G (n.442-4A>G)
c.503-4A>G (n.503-4A>G)
n.933-4A>G
c.481-4A>G (n.481-4A>G)
c.559-4A>G (n.559-4A>G)
c.670-4A>G (n.670-4A>G)
c.584-4A>G (n.584-4A>G)
dbSNP gnomAD v2 gnomAD v4
19g.1106537C=CA2317520734GPX4c.673-3C= (n.673-3C=)
c.542-3C= (n.542-3C=)
c.556-3C= (n.556-3C=)
c.178-3C= (n.178-3C=)
c.562-3C= (n.562-3C=)
c.537-3C= (n.537-3C=)
c.295-36C= (n.295-36C=)
c.442-3C= (n.442-3C=)
c.503-3C= (n.503-3C=)
n.933-3C=
c.481-3C= (n.481-3C=)
c.559-3C= (n.559-3C=)
c.670-3C= (n.670-3C=)
c.584-3C= (n.584-3C=)
19g.1106537C>GCA631298706GPX4c.673-3C>G (n.673-3C>G)
c.542-3C>G (n.542-3C>G)
c.556-3C>G (n.556-3C>G)
c.178-3C>G (n.178-3C>G)
c.562-3C>G (n.562-3C>G)
c.537-3C>G (n.537-3C>G)
c.295-36C>G (n.295-36C>G)
c.442-3C>G (n.442-3C>G)
c.503-3C>G (n.503-3C>G)
n.933-3C>G
c.481-3C>G (n.481-3C>G)
c.559-3C>G (n.559-3C>G)
c.670-3C>G (n.670-3C>G)
c.584-3C>G (n.584-3C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1106537C>TCA2576545179GPX4c.673-3C>T (n.673-3C>T)
c.542-3C>T (n.542-3C>T)
c.556-3C>T (n.556-3C>T)
c.178-3C>T (n.178-3C>T)
c.562-3C>T (n.562-3C>T)
c.537-3C>T (n.537-3C>T)
c.295-36C>T (n.295-36C>T)
c.442-3C>T (n.442-3C>T)
c.503-3C>T (n.503-3C>T)
n.933-3C>T
c.481-3C>T (n.481-3C>T)
c.559-3C>T (n.559-3C>T)
c.670-3C>T (n.670-3C>T)
c.584-3C>T (n.584-3C>T)
19g.1106538A=CA2317520735GPX4c.673-2A= (n.673-2A=)
c.542-2A= (n.542-2A=)
c.556-2A= (n.556-2A=)
c.178-2A= (n.178-2A=)
c.562-2A= (n.562-2A=)
c.537-2A= (n.537-2A=)
c.295-35A= (n.295-35A=)
c.442-2A= (n.442-2A=)
c.503-2A= (n.503-2A=)
n.933-2A=
c.481-2A= (n.481-2A=)
c.559-2A= (n.559-2A=)
c.670-2A= (n.670-2A=)
c.584-2A= (n.584-2A=)
19g.1106538A>CCA402940266GPX4c.673-2A>C (n.673-2A>C)
c.542-2A>C (n.542-2A>C)
c.556-2A>C (n.556-2A>C)
c.178-2A>C (n.178-2A>C)
c.562-2A>C (n.562-2A>C)
c.537-2A>C (n.537-2A>C)
c.295-35A>C (n.295-35A>C)
c.442-2A>C (n.442-2A>C)
c.503-2A>C (n.503-2A>C)
n.933-2A>C
c.481-2A>C (n.481-2A>C)
c.559-2A>C (n.559-2A>C)
c.670-2A>C (n.670-2A>C)
c.584-2A>C (n.584-2A>C)
19g.1106538A>GCA402940268GPX4c.673-2A>G (n.673-2A>G)
c.542-2A>G (n.542-2A>G)
c.556-2A>G (n.556-2A>G)
c.178-2A>G (n.178-2A>G)
c.562-2A>G (n.562-2A>G)
c.537-2A>G (n.537-2A>G)
c.295-35A>G (n.295-35A>G)
c.442-2A>G (n.442-2A>G)
c.503-2A>G (n.503-2A>G)
n.933-2A>G
c.481-2A>G (n.481-2A>G)
c.559-2A>G (n.559-2A>G)
c.670-2A>G (n.670-2A>G)
c.584-2A>G (n.584-2A>G)
19g.1106538A>TCA303995217GPX4c.673-2A>T (n.673-2A>T)
c.542-2A>T (n.542-2A>T)
c.556-2A>T (n.556-2A>T)
c.178-2A>T (n.178-2A>T)
c.562-2A>T (n.562-2A>T)
c.537-2A>T (n.537-2A>T)
c.295-35A>T (n.295-35A>T)
c.442-2A>T (n.442-2A>T)
c.503-2A>T (n.503-2A>T)
n.933-2A>T
c.481-2A>T (n.481-2A>T)
c.559-2A>T (n.559-2A>T)
c.670-2A>T (n.670-2A>T)
c.584-2A>T (n.584-2A>T)
dbSNP gnomAD v4
19g.1106539G>ACA9037520GPX4c.673-1G>A (n.673-1G>A)
c.542-1G>A (n.542-1G>A)
c.556-1G>A (n.556-1G>A)
c.178-1G>A (n.178-1G>A)
c.562-1G>A (n.562-1G>A)
c.537-1G>A (n.537-1G>A)
c.295-34G>A (n.295-34G>A)
c.442-1G>A (n.442-1G>A)
c.503-1G>A (n.503-1G>A)
n.933-1G>A
c.481-1G>A (n.481-1G>A)
c.559-1G>A (n.559-1G>A)
c.670-1G>A (n.670-1G>A)
c.584-1G>A (n.584-1G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106539G>CCA402940274GPX4c.673-1G>C (n.673-1G>C)
c.542-1G>C (n.542-1G>C)
c.556-1G>C (n.556-1G>C)
c.178-1G>C (n.178-1G>C)
c.562-1G>C (n.562-1G>C)
c.537-1G>C (n.537-1G>C)
c.295-34G>C (n.295-34G>C)
c.442-1G>C (n.442-1G>C)
c.503-1G>C (n.503-1G>C)
n.933-1G>C
c.481-1G>C (n.481-1G>C)
c.559-1G>C (n.559-1G>C)
c.670-1G>C (n.670-1G>C)
c.584-1G>C (n.584-1G>C)
19g.1106539G=CA2317520736GPX4c.673-1G= (n.673-1G=)
c.542-1G= (n.542-1G=)
c.556-1G= (n.556-1G=)
c.178-1G= (n.178-1G=)
c.562-1G= (n.562-1G=)
c.537-1G= (n.537-1G=)
c.295-34G= (n.295-34G=)
c.442-1G= (n.442-1G=)
c.503-1G= (n.503-1G=)
n.933-1G=
c.481-1G= (n.481-1G=)
c.559-1G= (n.559-1G=)
c.670-1G= (n.670-1G=)
c.584-1G= (n.584-1G=)
19g.1106539G>TCA402940271GPX4c.673-1G>T (n.673-1G>T)
c.542-1G>T (n.542-1G>T)
c.556-1G>T (n.556-1G>T)
c.178-1G>T (n.178-1G>T)
c.562-1G>T (n.562-1G>T)
c.537-1G>T (n.537-1G>T)
c.295-34G>T (n.295-34G>T)
c.442-1G>T (n.442-1G>T)
c.503-1G>T (n.503-1G>T)
n.933-1G>T
c.481-1G>T (n.481-1G>T)
c.559-1G>T (n.559-1G>T)
c.670-1G>T (n.670-1G>T)
c.584-1G>T (n.584-1G>T)
19g.1106540G>ACA402940285GPX4c.673G>A (p.Val225Met)
c.542G>A (p.Gly181Asp)
c.556G>A (p.Val186Met)
c.178G>A (p.Val60Met)
c.562G>A (p.Val188Met)
c.537G>A (p.Trp179Ter)
c.295-33G>A (n.295-33G>A)
c.442G>A (p.Val148Met)
c.503G>A (p.Gly168Asp)
n.933G>A
c.481G>A (p.Val161Met)
c.559G>A (p.Val187Met)
c.670G>A (p.Val224Met)
c.584G>A (p.Gly195Asp)
dbSNP
19g.1106540G>CCA402940278GPX4c.673G>C (p.Val225Leu)
c.542G>C (p.Gly181Ala)
c.556G>C (p.Val186Leu)
c.178G>C (p.Val60Leu)
c.562G>C (p.Val188Leu)
c.537G>C (p.Trp179Cys)
c.295-33G>C (n.295-33G>C)
c.442G>C (p.Val148Leu)
c.503G>C (p.Gly168Ala)
n.933G>C
c.481G>C (p.Val161Leu)
c.559G>C (p.Val187Leu)
c.670G>C (p.Val224Leu)
c.584G>C (p.Gly195Ala)
dbSNP
19g.1106540G=CA2317520737GPX4c.673G= (p.Val225=)
c.542G= (p.Gly181=)
c.556G= (p.Val186=)
c.178G= (p.Val60=)
c.562G= (p.Val188=)
c.537G= (p.Trp179=)
c.295-33G= (n.295-33G=)
c.442G= (p.Val148=)
c.503G= (p.Gly168=)
n.933G=
c.481G= (p.Val161=)
c.559G= (p.Val187=)
c.670G= (p.Val224=)
c.584G= (p.Gly195=)
19g.1106540G>TCA402940288GPX4c.673G>T (p.Val225Leu)
c.542G>T (p.Gly181Val)
c.556G>T (p.Val186Leu)
c.178G>T (p.Val60Leu)
c.562G>T (p.Val188Leu)
c.537G>T (p.Trp179Cys)
c.295-33G>T (n.295-33G>T)
c.442G>T (p.Val148Leu)
c.503G>T (p.Gly168Val)
n.933G>T
c.481G>T (p.Val161Leu)
c.559G>T (p.Val187Leu)
c.670G>T (p.Val224Leu)
c.584G>T (p.Gly195Val)
19g.1106541T>ACA402940291GPX4c.674T>A (p.Val225Glu)
c.543T>A (p.Gly181=)
c.557T>A (p.Val186Glu)
c.179T>A (p.Val60Glu)
c.563T>A (p.Val188Glu)
c.538T>A (p.Ter180Arg)
c.295-32T>A (n.295-32T>A)
c.443T>A (p.Val148Glu)
c.504T>A (p.Gly168=)
n.934T>A
c.482T>A (p.Val161Glu)
c.560T>A (p.Val187Glu)
c.671T>A (p.Val224Glu)
c.585T>A (p.Gly195=)
19g.1106541T>CCA402940297GPX4c.674T>C (p.Val225Ala)
c.543T>C (p.Gly181=)
c.557T>C (p.Val186Ala)
c.179T>C (p.Val60Ala)
c.563T>C (p.Val188Ala)
c.538T>C (p.Ter180Arg)
c.295-32T>C (n.295-32T>C)
c.443T>C (p.Val148Ala)
c.504T>C (p.Gly168=)
n.934T>C
c.482T>C (p.Val161Ala)
c.560T>C (p.Val187Ala)
c.671T>C (p.Val224Ala)
c.585T>C (p.Gly195=)
19g.1106541T>GCA402940300GPX4c.674T>G (p.Val225Gly)
c.543T>G (p.Gly181=)
c.557T>G (p.Val186Gly)
c.179T>G (p.Val60Gly)
c.563T>G (p.Val188Gly)
c.538T>G (p.Ter180Gly)
c.295-32T>G (n.295-32T>G)
c.443T>G (p.Val148Gly)
c.504T>G (p.Gly168=)
n.934T>G
c.482T>G (p.Val161Gly)
c.560T>G (p.Val187Gly)
c.671T>G (p.Val224Gly)
c.585T>G (p.Gly195=)
19g.1106541T=CA402940294GPX4c.674T= (p.Val225=)
c.543T= (p.Gly181=)
c.557T= (p.Val186=)
c.179T= (p.Val60=)
c.563T= (p.Val188=)
c.538T= (p.Ter180=)
c.295-32T= (n.295-32T=)
c.443T= (p.Val148=)
c.504T= (p.Gly168=)
n.934T=
c.482T= (p.Val161=)
c.560T= (p.Val187=)
c.671T= (p.Val224=)
c.585T= (p.Gly195=)
19g.1106542G>ACA9037521GPX4c.675G>A (p.Val225=)
c.544G>A (p.Asp182Asn)
c.558G>A (p.Val186=)
c.180G>A (p.Val60=)
c.564G>A (p.Val188=)
c.539G>A (p.Ter180=)
c.295-31G>A (n.295-31G>A)
c.444G>A (p.Val148=)
c.505G>A (p.Asp169Asn)
n.935G>A
c.483G>A (p.Val161=)
c.561G>A (p.Val187=)
c.672G>A (p.Val224=)
c.586G>A (p.Asp196Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1106542G>CCA402940304GPX4c.675G>C (p.Val225=)
c.544G>C (p.Asp182His)
c.558G>C (p.Val186=)
c.180G>C (p.Val60=)
c.564G>C (p.Val188=)
c.539G>C (p.Ter180Ser)
c.295-31G>C (n.295-31G>C)
c.444G>C (p.Val148=)
c.505G>C (p.Asp169His)
n.935G>C
c.483G>C (p.Val161=)
c.561G>C (p.Val187=)
c.672G>C (p.Val224=)
c.586G>C (p.Asp196His)
19g.1106542G=CA402940307GPX4c.675G= (p.Val225=)
c.544G= (p.Asp182=)
c.558G= (p.Val186=)
c.180G= (p.Val60=)
c.564G= (p.Val188=)
c.539G= (p.Ter180=)
c.295-31G= (n.295-31G=)
c.444G= (p.Val148=)
c.505G= (p.Asp169=)
n.935G=
c.483G= (p.Val161=)
c.561G= (p.Val187=)
c.672G= (p.Val224=)
c.586G= (p.Asp196=)
19g.1106542G>TCA9037522GPX4c.675G>T (p.Val225=)
c.544G>T (p.Asp182Tyr)
c.558G>T (p.Val186=)
c.180G>T (p.Val60=)
c.564G>T (p.Val188=)
c.539G>T (p.Ter180Leu)
c.295-31G>T (n.295-31G>T)
c.444G>T (p.Val148=)
c.505G>T (p.Asp169Tyr)
n.935G>T
c.483G>T (p.Val161=)
c.561G>T (p.Val187=)
c.672G>T (p.Val224=)
c.586G>T (p.Asp196Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1106543A=CA402940314GPX4c.676A= (p.Ile226=)
c.545A= (p.Asp182=)
c.559A= (p.Ile187=)
c.181A= (p.Ile61=)
c.565A= (p.Ile189=)
c.540A= (p.Ter180=)
c.295-30A= (n.295-30A=)
c.445A= (p.Ile149=)
c.506A= (p.Asp169=)
n.936A=
c.484A= (p.Ile162=)
c.562A= (p.Ile188=)
c.673A= (p.Ile225=)
c.587A= (p.Asp196=)
19g.1106543A>CCA402940315GPX4c.676A>C (p.Ile226Leu)
c.545A>C (p.Asp182Ala)
c.559A>C (p.Ile187Leu)
c.181A>C (p.Ile61Leu)
c.565A>C (p.Ile189Leu)
c.540A>C (p.Ter180Cys)
c.295-30A>C (n.295-30A>C)
c.445A>C (p.Ile149Leu)
c.506A>C (p.Asp169Ala)
n.936A>C
c.484A>C (p.Ile162Leu)
c.562A>C (p.Ile188Leu)
c.673A>C (p.Ile225Leu)
c.587A>C (p.Asp196Ala)
19g.1106543A>GCA402940317GPX4c.676A>G (p.Ile226Val)
c.545A>G (p.Asp182Gly)
c.559A>G (p.Ile187Val)
c.181A>G (p.Ile61Val)
c.565A>G (p.Ile189Val)
c.540A>G (p.Ter180Trp)
c.295-30A>G (n.295-30A>G)
c.445A>G (p.Ile149Val)
c.506A>G (p.Asp169Gly)
n.936A>G
c.484A>G (p.Ile162Val)
c.562A>G (p.Ile188Val)
c.673A>G (p.Ile225Val)
c.587A>G (p.Asp196Gly)
19g.1106543A>TCA402940320GPX4c.676A>T (p.Ile226Leu)
c.545A>T (p.Asp182Val)
c.559A>T (p.Ile187Leu)
c.181A>T (p.Ile61Leu)
c.565A>T (p.Ile189Leu)
c.540A>T (p.Ter180Cys)
c.295-30A>T (n.295-30A>T)
c.445A>T (p.Ile149Leu)
c.506A>T (p.Asp169Val)
n.936A>T
c.484A>T (p.Ile162Leu)
c.562A>T (p.Ile188Leu)
c.673A>T (p.Ile225Leu)
c.587A>T (p.Asp196Val)
dbSNP gnomAD v2 gnomAD v4
19g.1106544T>ACA402940323GPX4c.677T>A (p.Ile226Lys)
c.546T>A (p.Asp182Glu)
c.560T>A (p.Ile187Lys)
c.182T>A (p.Ile61Lys)
c.566T>A (p.Ile189Lys)
c.541T>A (p.Ter181Lys)
c.295-29T>A (n.295-29T>A)
c.446T>A (p.Ile149Lys)
c.507T>A (p.Asp169Glu)
n.937T>A
c.485T>A (p.Ile162Lys)
c.563T>A (p.Ile188Lys)
c.674T>A (p.Ile225Lys)
c.588T>A (p.Asp196Glu)
19g.1106544T>CCA402940325GPX4c.677T>C (p.Ile226Thr)
c.546T>C (p.Asp182=)
c.560T>C (p.Ile187Thr)
c.182T>C (p.Ile61Thr)
c.566T>C (p.Ile189Thr)
c.541T>C (p.Ter181Gln)
c.295-29T>C (n.295-29T>C)
c.446T>C (p.Ile149Thr)
c.507T>C (p.Asp169=)
n.937T>C
c.485T>C (p.Ile162Thr)
c.563T>C (p.Ile188Thr)
c.674T>C (p.Ile225Thr)
c.588T>C (p.Asp196=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1106544T>GCA402940328GPX4c.677T>G (p.Ile226Arg)
c.546T>G (p.Asp182Glu)
c.560T>G (p.Ile187Arg)
c.182T>G (p.Ile61Arg)
c.566T>G (p.Ile189Arg)
c.541T>G (p.Ter181Glu)
c.295-29T>G (n.295-29T>G)
c.446T>G (p.Ile149Arg)
c.507T>G (p.Asp169Glu)
n.937T>G
c.485T>G (p.Ile162Arg)
c.563T>G (p.Ile188Arg)
c.674T>G (p.Ile225Arg)
c.588T>G (p.Asp196Glu)
19g.1106544T=CA2317520738GPX4c.677T= (p.Ile226=)
c.546T= (p.Asp182=)
c.560T= (p.Ile187=)
c.182T= (p.Ile61=)
c.566T= (p.Ile189=)
c.541T= (p.Ter181=)
c.295-29T= (n.295-29T=)
c.446T= (p.Ile149=)
c.507T= (p.Asp169=)
n.937T=
c.485T= (p.Ile162=)
c.563T= (p.Ile188=)
c.674T= (p.Ile225=)
c.588T= (p.Asp196=)
19g.1106545A>CCA402940339GPX4c.678A>C (p.Ile226=)
c.547A>C (p.Arg183=)
c.561A>C (p.Ile187=)
c.183A>C (p.Ile61=)
c.567A>C (p.Ile189=)
c.542A>C (p.Ter181Ser)
c.295-28A>C (n.295-28A>C)
c.447A>C (p.Ile149=)
c.508A>C (p.Arg170=)
n.938A>C
c.486A>C (p.Ile162=)
c.564A>C (p.Ile188=)
c.675A>C (p.Ile225=)
c.589A>C (p.Arg197=)
19g.1106545A>GCA402940336GPX4c.678A>G (p.Ile226Met)
c.547A>G (p.Arg183Gly)
c.561A>G (p.Ile187Met)
c.183A>G (p.Ile61Met)
c.567A>G (p.Ile189Met)
c.542A>G (p.Ter181Trp)
c.295-28A>G (n.295-28A>G)
c.447A>G (p.Ile149Met)
c.508A>G (p.Arg170Gly)
n.938A>G
c.486A>G (p.Ile162Met)
c.564A>G (p.Ile188Met)
c.675A>G (p.Ile225Met)
c.589A>G (p.Arg197Gly)
ClinVar dbSNP
19g.1106545A>TCA402940333GPX4c.678A>T (p.Ile226=)
c.547A>T (p.Arg183Ter)
c.561A>T (p.Ile187=)
c.183A>T (p.Ile61=)
c.567A>T (p.Ile189=)
c.542A>T (p.Ter181Leu)
c.295-28A>T (n.295-28A>T)
c.447A>T (p.Ile149=)
c.508A>T (p.Arg170Ter)
n.938A>T
c.486A>T (p.Ile162=)
c.564A>T (p.Ile188=)
c.675A>T (p.Ile225=)
c.589A>T (p.Arg197Ter)
19g.1106545dupCA631298710GPX4c.678dup (p.Glu227ArgfsTer?)
c.547dup (p.Arg183LysfsTer?)
c.561dup (p.Glu188ArgfsTer?)
c.183dup (p.Glu62ArgfsTer?)
c.567dup (p.Glu190ArgfsTer?)
c.542dup (p.Ter181=)
c.295-28dup (n.295-28dup)
c.447dup (p.Glu150ArgfsTer?)
c.508dup (p.Arg170LysfsTer?)
n.938dup
c.486dup (p.Glu163ArgfsTer?)
c.564dup (p.Glu189ArgfsTer?)
c.675dup (p.Glu226ArgfsTer?)
c.589dup (p.Arg197LysfsTer?)
dbSNP gnomAD v2 gnomAD v4
19g.1106546G>ACA402940342GPX4c.679G>A (p.Glu227Lys)
c.548G>A (p.Arg183Lys)
c.562G>A (p.Glu188Lys)
c.184G>A (p.Glu62Lys)
c.568G>A (p.Glu190Lys)
c.543G>A (p.Ter181=)
c.295-27G>A (n.295-27G>A)
c.448G>A (p.Glu150Lys)
c.509G>A (p.Arg170Lys)
n.939G>A
c.487G>A (p.Glu163Lys)
c.565G>A (p.Glu189Lys)
c.676G>A (p.Glu226Lys)
c.590G>A (p.Arg197Lys)
19g.1106546G>CCA303995239GPX4c.679G>C (p.Glu227Gln)
c.548G>C (p.Arg183Thr)
c.562G>C (p.Glu188Gln)
c.184G>C (p.Glu62Gln)
c.568G>C (p.Glu190Gln)
c.543G>C (p.Ter181Tyr)
c.295-27G>C (n.295-27G>C)
c.448G>C (p.Glu150Gln)
c.509G>C (p.Arg170Thr)
n.939G>C
c.487G>C (p.Glu163Gln)
c.565G>C (p.Glu189Gln)
c.676G>C (p.Glu226Gln)
c.590G>C (p.Arg197Thr)
dbSNP
19g.1106546G=CA2317520739GPX4c.679G= (p.Glu227=)
c.548G= (p.Arg183=)
c.562G= (p.Glu188=)
c.184G= (p.Glu62=)
c.568G= (p.Glu190=)
c.543G= (p.Ter181=)
c.295-27G= (n.295-27G=)
c.448G= (p.Glu150=)
c.509G= (p.Arg170=)
n.939G=
c.487G= (p.Glu163=)
c.565G= (p.Glu189=)
c.676G= (p.Glu226=)
c.590G= (p.Arg197=)
19g.1106546G>TCA402940345GPX4c.679G>T (p.Glu227Ter)
c.548G>T (p.Arg183Ile)
c.562G>T (p.Glu188Ter)
c.184G>T (p.Glu62Ter)
c.568G>T (p.Glu190Ter)
c.543G>T (p.Ter181Tyr)
c.295-27G>T (n.295-27G>T)
c.448G>T (p.Glu150Ter)
c.509G>T (p.Arg170Ile)
n.939G>T
c.487G>T (p.Glu163Ter)
c.565G>T (p.Glu189Ter)
c.676G>T (p.Glu226Ter)
c.590G>T (p.Arg197Ile)
19g.1106547A>CCA402940347GPX4c.680A>C (p.Glu227Ala)
c.549A>C (p.Arg183Ser)
c.563A>C (p.Glu188Ala)
c.185A>C (p.Glu62Ala)
c.569A>C (p.Glu190Ala)
c.*1A>C (n.*1A>C)
c.295-26A>C (n.295-26A>C)
c.449A>C (p.Glu150Ala)
c.510A>C (p.Arg170Ser)
n.940A>C
c.488A>C (p.Glu163Ala)
c.566A>C (p.Glu189Ala)
c.677A>C (p.Glu226Ala)
c.591A>C (p.Arg197Ser)
19g.1106547A>GCA402940348GPX4c.680A>G (p.Glu227Gly)
c.549A>G (p.Arg183=)
c.563A>G (p.Glu188Gly)
c.185A>G (p.Glu62Gly)
c.569A>G (p.Glu190Gly)
c.*1A>G (n.*1A>G)
c.295-26A>G (n.295-26A>G)
c.449A>G (p.Glu150Gly)
c.510A>G (p.Arg170=)
n.940A>G
c.488A>G (p.Glu163Gly)
c.566A>G (p.Glu189Gly)
c.677A>G (p.Glu226Gly)
c.591A>G (p.Arg197=)
19g.1106547A>TCA402940354GPX4c.680A>T (p.Glu227Val)
c.549A>T (p.Arg183Ser)
c.563A>T (p.Glu188Val)
c.185A>T (p.Glu62Val)
c.569A>T (p.Glu190Val)
c.*1A>T (n.*1A>T)
c.295-26A>T (n.295-26A>T)
c.449A>T (p.Glu150Val)
c.510A>T (p.Arg170Ser)
n.940A>T
c.488A>T (p.Glu163Val)
c.566A>T (p.Glu189Val)
c.677A>T (p.Glu226Val)
c.591A>T (p.Arg197Ser)
19g.1106548G>ACA9037523GPX4c.681G>A (p.Glu227=)
c.550G>A (p.Glu184Lys)
c.564G>A (p.Glu188=)
c.186G>A (p.Glu62=)
c.570G>A (p.Glu190=)
c.*2G>A (n.*2G>A)
c.295-25G>A (n.295-25G>A)
c.450G>A (p.Glu150=)
c.511G>A (p.Glu171Lys)
n.941G>A
c.489G>A (p.Glu163=)
c.567G>A (p.Glu189=)
c.678G>A (p.Glu226=)
c.592G>A (p.Glu198Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106548G>CCA402940356GPX4c.681G>C (p.Glu227Asp)
c.550G>C (p.Glu184Gln)
c.564G>C (p.Glu188Asp)
c.186G>C (p.Glu62Asp)
c.570G>C (p.Glu190Asp)
c.*2G>C (n.*2G>C)
c.295-25G>C (n.295-25G>C)
c.450G>C (p.Glu150Asp)
c.511G>C (p.Glu171Gln)
n.941G>C
c.489G>C (p.Glu163Asp)
c.567G>C (p.Glu189Asp)
c.678G>C (p.Glu226Asp)
c.592G>C (p.Glu198Gln)
19g.1106548G=CA2317520740GPX4c.681G= (p.Glu227=)
c.550G= (p.Glu184=)
c.564G= (p.Glu188=)
c.186G= (p.Glu62=)
c.570G= (p.Glu190=)
c.*2G= (n.*2G=)
c.295-25G= (n.295-25G=)
c.450G= (p.Glu150=)
c.511G= (p.Glu171=)
n.941G=
c.489G= (p.Glu163=)
c.567G= (p.Glu189=)
c.678G= (p.Glu226=)
c.592G= (p.Glu198=)
19g.1106548G>TCA402940360GPX4c.681G>T (p.Glu227Asp)
c.550G>T (p.Glu184Ter)
c.564G>T (p.Glu188Asp)
c.186G>T (p.Glu62Asp)
c.570G>T (p.Glu190Asp)
c.*2G>T (n.*2G>T)
c.295-25G>T (n.295-25G>T)
c.450G>T (p.Glu150Asp)
c.511G>T (p.Glu171Ter)
n.941G>T
c.489G>T (p.Glu163Asp)
c.567G>T (p.Glu189Asp)
c.678G>T (p.Glu226Asp)
c.592G>T (p.Glu198Ter)
19g.1106549A=CA2317520741GPX4c.682A= (p.Lys228=)
c.551A= (p.Glu184=)
c.565A= (p.Lys189=)
c.187A= (p.Lys63=)
c.571A= (p.Lys191=)
c.*3A= (n.*3A=)
c.295-24A= (n.295-24A=)
c.451A= (p.Lys151=)
c.512A= (p.Glu171=)
n.942A=
c.490A= (p.Lys164=)
c.568A= (p.Lys190=)
c.679A= (p.Lys227=)
c.593A= (p.Glu198=)
19g.1106549A>CCA402940362GPX4c.682A>C (p.Lys228Gln)
c.551A>C (p.Glu184Ala)
c.565A>C (p.Lys189Gln)
c.187A>C (p.Lys63Gln)
c.571A>C (p.Lys191Gln)
c.*3A>C (n.*3A>C)
c.295-24A>C (n.295-24A>C)
c.451A>C (p.Lys151Gln)
c.512A>C (p.Glu171Ala)
n.942A>C
c.490A>C (p.Lys164Gln)
c.568A>C (p.Lys190Gln)
c.679A>C (p.Lys227Gln)
c.593A>C (p.Glu198Ala)
19g.1106549A>GCA9037524GPX4c.682A>G (p.Lys228Glu)
c.551A>G (p.Glu184Gly)
c.565A>G (p.Lys189Glu)
c.187A>G (p.Lys63Glu)
c.571A>G (p.Lys191Glu)
c.*3A>G (n.*3A>G)
c.295-24A>G (n.295-24A>G)
c.451A>G (p.Lys151Glu)
c.512A>G (p.Glu171Gly)
n.942A>G
c.490A>G (p.Lys164Glu)
c.568A>G (p.Lys190Glu)
c.679A>G (p.Lys227Glu)
c.593A>G (p.Glu198Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1106549A>TCA402940366GPX4c.682A>T (p.Lys228Ter)
c.551A>T (p.Glu184Val)
c.565A>T (p.Lys189Ter)
c.187A>T (p.Lys63Ter)
c.571A>T (p.Lys191Ter)
c.*3A>T (n.*3A>T)
c.295-24A>T (n.295-24A>T)
c.451A>T (p.Lys151Ter)
c.512A>T (p.Glu171Val)
n.942A>T
c.490A>T (p.Lys164Ter)
c.568A>T (p.Lys190Ter)
c.679A>T (p.Lys227Ter)
c.593A>T (p.Glu198Val)
19g.1106550A>CCA402940372GPX4c.683A>C (p.Lys228Thr)
c.552A>C (p.Glu184Asp)
c.566A>C (p.Lys189Thr)
c.188A>C (p.Lys63Thr)
c.572A>C (p.Lys191Thr)
c.*4A>C (n.*4A>C)
c.295-23A>C (n.295-23A>C)
c.452A>C (p.Lys151Thr)
c.513A>C (p.Glu171Asp)
n.943A>C
c.491A>C (p.Lys164Thr)
c.569A>C (p.Lys190Thr)
c.680A>C (p.Lys227Thr)
c.594A>C (p.Glu198Asp)
19g.1106550A>GCA402940375GPX4c.683A>G (p.Lys228Arg)
c.552A>G (p.Glu184=)
c.566A>G (p.Lys189Arg)
c.188A>G (p.Lys63Arg)
c.572A>G (p.Lys191Arg)
c.*4A>G (n.*4A>G)
c.295-23A>G (n.295-23A>G)
c.452A>G (p.Lys151Arg)
c.513A>G (p.Glu171=)
n.943A>G
c.491A>G (p.Lys164Arg)
c.569A>G (p.Lys190Arg)
c.680A>G (p.Lys227Arg)
c.594A>G (p.Glu198=)
19g.1106550A>TCA402940369GPX4c.683A>T (p.Lys228Met)
c.552A>T (p.Glu184Asp)
c.566A>T (p.Lys189Met)
c.188A>T (p.Lys63Met)
c.572A>T (p.Lys191Met)
c.*4A>T (n.*4A>T)
c.295-23A>T (n.295-23A>T)
c.452A>T (p.Lys151Met)
c.513A>T (p.Glu171Asp)
n.943A>T
c.491A>T (p.Lys164Met)
c.569A>T (p.Lys190Met)
c.680A>T (p.Lys227Met)
c.594A>T (p.Glu198Asp)
19g.1106551G>ACA402940379GPX4c.684G>A (p.Lys228=)
c.553G>A (p.Gly185Arg)
c.567G>A (p.Lys189=)
c.189G>A (p.Lys63=)
c.573G>A (p.Lys191=)
c.*5G>A (n.*5G>A)
c.295-22G>A (n.295-22G>A)
c.453G>A (p.Lys151=)
c.514G>A (p.Gly172Arg)
n.944G>A
c.492G>A (p.Lys164=)
c.570G>A (p.Lys190=)
c.681G>A (p.Lys227=)
c.595G>A (p.Gly199Arg)
dbSNP gnomAD v2 gnomAD v4
19g.1106551G>CCA402940380GPX4c.684G>C (p.Lys228Asn)
c.553G>C (p.Gly185Arg)
c.567G>C (p.Lys189Asn)
c.189G>C (p.Lys63Asn)
c.573G>C (p.Lys191Asn)
c.*5G>C (n.*5G>C)
c.295-22G>C (n.295-22G>C)
c.453G>C (p.Lys151Asn)
c.514G>C (p.Gly172Arg)
n.944G>C
c.492G>C (p.Lys164Asn)
c.570G>C (p.Lys190Asn)
c.681G>C (p.Lys227Asn)
c.595G>C (p.Gly199Arg)
19g.1106551G=CA2317520742GPX4c.684G= (p.Lys228=)
c.553G= (p.Gly185=)
c.567G= (p.Lys189=)
c.189G= (p.Lys63=)
c.573G= (p.Lys191=)
c.*5G= (n.*5G=)
c.295-22G= (n.295-22G=)
c.453G= (p.Lys151=)
c.514G= (p.Gly172=)
n.944G=
c.492G= (p.Lys164=)
c.570G= (p.Lys190=)
c.681G= (p.Lys227=)
c.595G= (p.Gly199=)
19g.1106551G>TCA402940381GPX4c.684G>T (p.Lys228Asn)
c.553G>T (p.Gly185Ter)
c.567G>T (p.Lys189Asn)
c.189G>T (p.Lys63Asn)
c.573G>T (p.Lys191Asn)
c.*5G>T (n.*5G>T)
c.295-22G>T (n.295-22G>T)
c.453G>T (p.Lys151Asn)
c.514G>T (p.Gly172Ter)
n.944G>T
c.492G>T (p.Lys164Asn)
c.570G>T (p.Lys190Asn)
c.681G>T (p.Lys227Asn)
c.595G>T (p.Gly199Ter)
19g.1106552G>ACA9037525GPX4c.685G>A (p.Asp229Asn)
c.554G>A (p.Gly185Glu)
c.568G>A (p.Asp190Asn)
c.190G>A (p.Asp64Asn)
c.574G>A (p.Asp192Asn)
c.*6G>A (n.*6G>A)
c.295-21G>A (n.295-21G>A)
c.454G>A (p.Asp152Asn)
c.515G>A (p.Gly172Glu)
n.945G>A
c.493G>A (p.Asp165Asn)
c.571G>A (p.Asp191Asn)
c.682G>A (p.Asp228Asn)
c.596G>A (p.Gly199Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1106552G>CCA402940382GPX4c.685G>C (p.Asp229His)
c.554G>C (p.Gly185Ala)
c.568G>C (p.Asp190His)
c.190G>C (p.Asp64His)
c.574G>C (p.Asp192His)
c.*6G>C (n.*6G>C)
c.295-21G>C (n.295-21G>C)
c.454G>C (p.Asp152His)
c.515G>C (p.Gly172Ala)
n.945G>C
c.493G>C (p.Asp165His)
c.571G>C (p.Asp191His)
c.682G>C (p.Asp228His)
c.596G>C (p.Gly199Ala)
19g.1106552G=CA2317520743GPX4c.685G= (p.Asp229=)
c.554G= (p.Gly185=)
c.568G= (p.Asp190=)
c.190G= (p.Asp64=)
c.574G= (p.Asp192=)
c.*6G= (n.*6G=)
c.295-21G= (n.295-21G=)
c.454G= (p.Asp152=)
c.515G= (p.Gly172=)
n.945G=
c.493G= (p.Asp165=)
c.571G= (p.Asp191=)
c.682G= (p.Asp228=)
c.596G= (p.Gly199=)
19g.1106552G>TCA402940383GPX4c.685G>T (p.Asp229Tyr)
c.554G>T (p.Gly185Val)
c.568G>T (p.Asp190Tyr)
c.190G>T (p.Asp64Tyr)
c.574G>T (p.Asp192Tyr)
c.*6G>T (n.*6G>T)
c.295-21G>T (n.295-21G>T)
c.454G>T (p.Asp152Tyr)
c.515G>T (p.Gly172Val)
n.945G>T
c.493G>T (p.Asp165Tyr)
c.571G>T (p.Asp191Tyr)
c.682G>T (p.Asp228Tyr)
c.596G>T (p.Gly199Val)
19g.1106553A=CA2317520744GPX4c.686A= (p.Asp229=)
c.555A= (p.Gly185=)
c.569A= (p.Asp190=)
c.191A= (p.Asp64=)
c.575A= (p.Asp192=)
c.*7A= (n.*7A=)
c.295-20A= (n.295-20A=)
c.455A= (p.Asp152=)
c.516A= (p.Gly172=)
n.946A=
c.494A= (p.Asp165=)
c.572A= (p.Asp191=)
c.683A= (p.Asp228=)
c.597A= (p.Gly199=)
19g.1106553A>CCA402940384GPX4c.686A>C (p.Asp229Ala)
c.555A>C (p.Gly185=)
c.569A>C (p.Asp190Ala)
c.191A>C (p.Asp64Ala)
c.575A>C (p.Asp192Ala)
c.*7A>C (n.*7A>C)
c.295-20A>C (n.295-20A>C)
c.455A>C (p.Asp152Ala)
c.516A>C (p.Gly172=)
n.946A>C
c.494A>C (p.Asp165Ala)
c.572A>C (p.Asp191Ala)
c.683A>C (p.Asp228Ala)
c.597A>C (p.Gly199=)
dbSNP
19g.1106553A>GCA402940385GPX4c.686A>G (p.Asp229Gly)
c.555A>G (p.Gly185=)
c.569A>G (p.Asp190Gly)
c.191A>G (p.Asp64Gly)
c.575A>G (p.Asp192Gly)
c.*7A>G (n.*7A>G)
c.295-20A>G (n.295-20A>G)
c.455A>G (p.Asp152Gly)
c.516A>G (p.Gly172=)
n.946A>G
c.494A>G (p.Asp165Gly)
c.572A>G (p.Asp191Gly)
c.683A>G (p.Asp228Gly)
c.597A>G (p.Gly199=)
19g.1106553A>TCA402940386GPX4c.686A>T (p.Asp229Val)
c.555A>T (p.Gly185=)
c.569A>T (p.Asp190Val)
c.191A>T (p.Asp64Val)
c.575A>T (p.Asp192Val)
c.*7A>T (n.*7A>T)
c.295-20A>T (n.295-20A>T)
c.455A>T (p.Asp152Val)
c.516A>T (p.Gly172=)
n.946A>T
c.494A>T (p.Asp165Val)
c.572A>T (p.Asp191Val)
c.683A>T (p.Asp228Val)
c.597A>T (p.Gly199=)
19g.1106554C>ACA402940387GPX4c.687C>A (p.Asp229Glu)
c.556C>A (p.Pro186Thr)
c.570C>A (p.Asp190Glu)
c.192C>A (p.Asp64Glu)
c.576C>A (p.Asp192Glu)
c.*8C>A (n.*8C>A)
c.295-19C>A (n.295-19C>A)
c.456C>A (p.Asp152Glu)
c.517C>A (p.Pro173Thr)
n.947C>A
c.495C>A (p.Asp165Glu)
c.573C>A (p.Asp191Glu)
c.684C>A (p.Asp228Glu)
c.598C>A (p.Pro200Thr)
19g.1106554C>GCA402940388GPX4c.687C>G (p.Asp229Glu)
c.556C>G (p.Pro186Ala)
c.570C>G (p.Asp190Glu)
c.192C>G (p.Asp64Glu)
c.576C>G (p.Asp192Glu)
c.*8C>G (n.*8C>G)
c.295-19C>G (n.295-19C>G)
c.456C>G (p.Asp152Glu)
c.517C>G (p.Pro173Ala)
n.947C>G
c.495C>G (p.Asp165Glu)
c.573C>G (p.Asp191Glu)
c.684C>G (p.Asp228Glu)
c.598C>G (p.Pro200Ala)
19g.1106554C>TCA402940389GPX4c.687C>T (p.Asp229=)
c.556C>T (p.Pro186Ser)
c.570C>T (p.Asp190=)
c.192C>T (p.Asp64=)
c.576C>T (p.Asp192=)
c.*8C>T (n.*8C>T)
c.295-19C>T (n.295-19C>T)
c.456C>T (p.Asp152=)
c.517C>T (p.Pro173Ser)
n.947C>T
c.495C>T (p.Asp165=)
c.573C>T (p.Asp191=)
c.684C>T (p.Asp228=)
c.598C>T (p.Pro200Ser)
dbSNP gnomAD v4
19g.1106555C>ACA402940392GPX4c.688C>A (p.Leu230Met)
c.557C>A (p.Pro186His)
c.571C>A (p.Leu191Met)
c.193C>A (p.Leu65Met)
c.577C>A (p.Leu193Met)
c.*9C>A (n.*9C>A)
c.295-18C>A (n.295-18C>A)
c.457C>A (p.Leu153Met)
c.518C>A (p.Pro173His)
n.948C>A
c.496C>A (p.Leu166Met)
c.574C>A (p.Leu192Met)
c.685C>A (p.Leu229Met)
c.599C>A (p.Pro200His)
19g.1106555C=CA2317520745GPX4c.688C= (p.Leu230=)
c.557C= (p.Pro186=)
c.571C= (p.Leu191=)
c.193C= (p.Leu65=)
c.577C= (p.Leu193=)
c.*9C= (n.*9C=)
c.295-18C= (n.295-18C=)
c.457C= (p.Leu153=)
c.518C= (p.Pro173=)
n.948C=
c.496C= (p.Leu166=)
c.574C= (p.Leu192=)
c.685C= (p.Leu229=)
c.599C= (p.Pro200=)
19g.1106555C>GCA402940390GPX4c.688C>G (p.Leu230Val)
c.557C>G (p.Pro186Arg)
c.571C>G (p.Leu191Val)
c.193C>G (p.Leu65Val)
c.577C>G (p.Leu193Val)
c.*9C>G (n.*9C>G)
c.295-18C>G (n.295-18C>G)
c.457C>G (p.Leu153Val)
c.518C>G (p.Pro173Arg)
n.948C>G
c.496C>G (p.Leu166Val)
c.574C>G (p.Leu192Val)
c.685C>G (p.Leu229Val)
c.599C>G (p.Pro200Arg)
19g.1106555C>TCA402940391GPX4c.688C>T (p.Leu230=)
c.557C>T (p.Pro186Leu)
c.571C>T (p.Leu191=)
c.193C>T (p.Leu65=)
c.577C>T (p.Leu193=)
c.*9C>T (n.*9C>T)
c.295-18C>T (n.295-18C>T)
c.457C>T (p.Leu153=)
c.518C>T (p.Pro173Leu)
n.948C>T
c.496C>T (p.Leu166=)
c.574C>T (p.Leu192=)
c.685C>T (p.Leu229=)
c.599C>T (p.Pro200Leu)
dbSNP
19g.1106556T>ACA402940393GPX4c.689T>A (p.Leu230Gln)
c.558T>A (p.Pro186=)
c.572T>A (p.Leu191Gln)
c.194T>A (p.Leu65Gln)
c.578T>A (p.Leu193Gln)
c.*10T>A (n.*10T>A)
c.295-17T>A (n.295-17T>A)
c.458T>A (p.Leu153Gln)
c.519T>A (p.Pro173=)
n.949T>A
c.497T>A (p.Leu166Gln)
c.575T>A (p.Leu192Gln)
c.686T>A (p.Leu229Gln)
c.600T>A (p.Pro200=)
19g.1106556T>CCA402940394GPX4c.689T>C (p.Leu230Pro)
c.558T>C (p.Pro186=)
c.572T>C (p.Leu191Pro)
c.194T>C (p.Leu65Pro)
c.578T>C (p.Leu193Pro)
c.*10T>C (n.*10T>C)
c.295-17T>C (n.295-17T>C)
c.458T>C (p.Leu153Pro)
c.519T>C (p.Pro173=)
n.949T>C
c.497T>C (p.Leu166Pro)
c.575T>C (p.Leu192Pro)
c.686T>C (p.Leu229Pro)
c.600T>C (p.Pro200=)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.1106556T>GCA402940395GPX4c.689T>G (p.Leu230Arg)
c.558T>G (p.Pro186=)
c.572T>G (p.Leu191Arg)
c.194T>G (p.Leu65Arg)
c.578T>G (p.Leu193Arg)
c.*10T>G (n.*10T>G)
c.295-17T>G (n.295-17T>G)
c.458T>G (p.Leu153Arg)
c.519T>G (p.Pro173=)
n.949T>G
c.497T>G (p.Leu166Arg)
c.575T>G (p.Leu192Arg)
c.686T>G (p.Leu229Arg)
c.600T>G (p.Pro200=)
19g.1106556T=CA2317520746GPX4c.689T= (p.Leu230=)
c.558T= (p.Pro186=)
c.572T= (p.Leu191=)
c.194T= (p.Leu65=)
c.578T= (p.Leu193=)
c.*10T= (n.*10T=)
c.295-17T= (n.295-17T=)
c.458T= (p.Leu153=)
c.519T= (p.Pro173=)
n.949T=
c.497T= (p.Leu166=)
c.575T= (p.Leu192=)
c.686T= (p.Leu229=)
c.600T= (p.Pro200=)
19g.1106557G>ACA9037526GPX4c.690G>A (p.Leu230=)
c.559G>A (p.Ala187Thr)
c.573G>A (p.Leu191=)
c.195G>A (p.Leu65=)
c.579G>A (p.Leu193=)
c.*11G>A (n.*11G>A)
c.295-16G>A (n.295-16G>A)
c.459G>A (p.Leu153=)
c.520G>A (p.Ala174Thr)
n.950G>A
c.498G>A (p.Leu166=)
c.576G>A (p.Leu192=)
c.687G>A (p.Leu229=)
c.601G>A (p.Ala201Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106557G>CCA402940396GPX4c.690G>C (p.Leu230=)
c.559G>C (p.Ala187Pro)
c.573G>C (p.Leu191=)
c.195G>C (p.Leu65=)
c.579G>C (p.Leu193=)
c.*11G>C (n.*11G>C)
c.295-16G>C (n.295-16G>C)
c.459G>C (p.Leu153=)
c.520G>C (p.Ala174Pro)
n.950G>C
c.498G>C (p.Leu166=)
c.576G>C (p.Leu192=)
c.687G>C (p.Leu229=)
c.601G>C (p.Ala201Pro)
19g.1106557G=CA2317520747GPX4c.690G= (p.Leu230=)
c.559G= (p.Ala187=)
c.573G= (p.Leu191=)
c.195G= (p.Leu65=)
c.579G= (p.Leu193=)
c.*11G= (n.*11G=)
c.295-16G= (n.295-16G=)
c.459G= (p.Leu153=)
c.520G= (p.Ala174=)
n.950G=
c.498G= (p.Leu166=)
c.576G= (p.Leu192=)
c.687G= (p.Leu229=)
c.601G= (p.Ala201=)
19g.1106557G>TCA402940397GPX4c.690G>T (p.Leu230=)
c.559G>T (p.Ala187Ser)
c.573G>T (p.Leu191=)
c.195G>T (p.Leu65=)
c.579G>T (p.Leu193=)
c.*11G>T (n.*11G>T)
c.295-16G>T (n.295-16G>T)
c.459G>T (p.Leu153=)
c.520G>T (p.Ala174Ser)
n.950G>T
c.498G>T (p.Leu166=)
c.576G>T (p.Leu192=)
c.687G>T (p.Leu229=)
c.601G>T (p.Ala201Ser)
gnomAD v4
19g.1106558C>ACA402940398GPX4c.691C>A (p.Pro231Thr)
c.560C>A (p.Ala187Asp)
c.574C>A (p.Pro192Thr)
c.196C>A (p.Pro66Thr)
c.580C>A (p.Pro194Thr)
c.*12C>A (n.*12C>A)
c.295-15C>A (n.295-15C>A)
c.460C>A (p.Pro154Thr)
c.521C>A (p.Ala174Asp)
n.951C>A
c.499C>A (p.Pro167Thr)
c.577C>A (p.Pro193Thr)
c.688C>A (p.Pro230Thr)
c.602C>A (p.Ala201Asp)
19g.1106558C=CA2317520748GPX4c.691C= (p.Pro231=)
c.560C= (p.Ala187=)
c.574C= (p.Pro192=)
c.196C= (p.Pro66=)
c.580C= (p.Pro194=)
c.*12C= (n.*12C=)
c.295-15C= (n.295-15C=)
c.460C= (p.Pro154=)
c.521C= (p.Ala174=)
n.951C=
c.499C= (p.Pro167=)
c.577C= (p.Pro193=)
c.688C= (p.Pro230=)
c.602C= (p.Ala201=)
19g.1106558C>GCA402940399GPX4c.691C>G (p.Pro231Ala)
c.560C>G (p.Ala187Gly)
c.574C>G (p.Pro192Ala)
c.196C>G (p.Pro66Ala)
c.580C>G (p.Pro194Ala)
c.*12C>G (n.*12C>G)
c.295-15C>G (n.295-15C>G)
c.460C>G (p.Pro154Ala)
c.521C>G (p.Ala174Gly)
n.951C>G
c.499C>G (p.Pro167Ala)
c.577C>G (p.Pro193Ala)
c.688C>G (p.Pro230Ala)
c.602C>G (p.Ala201Gly)
19g.1106558C>TCA9037527GPX4c.691C>T (p.Pro231Ser)
c.560C>T (p.Ala187Val)
c.574C>T (p.Pro192Ser)
c.196C>T (p.Pro66Ser)
c.580C>T (p.Pro194Ser)
c.*12C>T (n.*12C>T)
c.295-15C>T (n.295-15C>T)
c.460C>T (p.Pro154Ser)
c.521C>T (p.Ala174Val)
n.951C>T
c.499C>T (p.Pro167Ser)
c.577C>T (p.Pro193Ser)
c.688C>T (p.Pro230Ser)
c.602C>T (p.Ala201Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106559C>ACA402940400GPX4c.692C>A (p.Pro231His)
c.561C>A (p.Ala187=)
c.575C>A (p.Pro192His)
c.197C>A (p.Pro66His)
c.581C>A (p.Pro194His)
c.*13C>A (n.*13C>A)
c.295-14C>A (n.295-14C>A)
c.461C>A (p.Pro154His)
c.522C>A (p.Ala174=)
n.952C>A
c.500C>A (p.Pro167His)
c.578C>A (p.Pro193His)
c.689C>A (p.Pro230His)
c.603C>A (p.Ala201=)
gnomAD v4
19g.1106559C=CA2317520749GPX4c.692C= (p.Pro231=)
c.561C= (p.Ala187=)
c.575C= (p.Pro192=)
c.197C= (p.Pro66=)
c.581C= (p.Pro194=)
c.*13C= (n.*13C=)
c.295-14C= (n.295-14C=)
c.461C= (p.Pro154=)
c.522C= (p.Ala174=)
n.952C=
c.500C= (p.Pro167=)
c.578C= (p.Pro193=)
c.689C= (p.Pro230=)
c.603C= (p.Ala201=)
19g.1106559C>GCA402940401GPX4c.692C>G (p.Pro231Arg)
c.561C>G (p.Ala187=)
c.575C>G (p.Pro192Arg)
c.197C>G (p.Pro66Arg)
c.581C>G (p.Pro194Arg)
c.*13C>G (n.*13C>G)
c.295-14C>G (n.295-14C>G)
c.461C>G (p.Pro154Arg)
c.522C>G (p.Ala174=)
n.952C>G
c.500C>G (p.Pro167Arg)
c.578C>G (p.Pro193Arg)
c.689C>G (p.Pro230Arg)
c.603C>G (p.Ala201=)
19g.1106559C>TCA9037528GPX4c.692C>T (p.Pro231Leu)
c.561C>T (p.Ala187=)
c.575C>T (p.Pro192Leu)
c.197C>T (p.Pro66Leu)
c.581C>T (p.Pro194Leu)
c.*13C>T (n.*13C>T)
c.295-14C>T (n.295-14C>T)
c.461C>T (p.Pro154Leu)
c.522C>T (p.Ala174=)
n.952C>T
c.500C>T (p.Pro167Leu)
c.578C>T (p.Pro193Leu)
c.689C>T (p.Pro230Leu)
c.603C>T (p.Ala201=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1106560C>ACA402940404GPX4c.693C>A (p.Pro231=)
c.562C>A (p.Pro188Thr)
c.576C>A (p.Pro192=)
c.198C>A (p.Pro66=)
c.582C>A (p.Pro194=)
c.*14C>A (n.*14C>A)
c.295-13C>A (n.295-13C>A)
c.462C>A (p.Pro154=)
c.523C>A (p.Pro175Thr)
n.953C>A
c.501C>A (p.Pro167=)
c.579C>A (p.Pro193=)
c.690C>A (p.Pro230=)
c.604C>A (p.Pro202Thr)
19g.1106560C>GCA402940403GPX4c.693C>G (p.Pro231=)
c.562C>G (p.Pro188Ala)
c.576C>G (p.Pro192=)
c.198C>G (p.Pro66=)
c.582C>G (p.Pro194=)
c.*14C>G (n.*14C>G)
c.295-13C>G (n.295-13C>G)
c.462C>G (p.Pro154=)
c.523C>G (p.Pro175Ala)
n.953C>G
c.501C>G (p.Pro167=)
c.579C>G (p.Pro193=)
c.690C>G (p.Pro230=)
c.604C>G (p.Pro202Ala)
19g.1106560C>TCA402940402GPX4c.693C>T (p.Pro231=)
c.562C>T (p.Pro188Ser)
c.576C>T (p.Pro192=)
c.198C>T (p.Pro66=)
c.582C>T (p.Pro194=)
c.*14C>T (n.*14C>T)
c.295-13C>T (n.295-13C>T)
c.462C>T (p.Pro154=)
c.523C>T (p.Pro175Ser)
n.953C>T
c.501C>T (p.Pro167=)
c.579C>T (p.Pro193=)
c.690C>T (p.Pro230=)
c.604C>T (p.Pro202Ser)
19g.1106561C>ACA402940405GPX4c.694C>A (p.His232Asn)
c.563C>A (p.Pro188Gln)
c.577C>A (p.His193Asn)
c.199C>A (p.His67Asn)
c.583C>A (p.His195Asn)
c.*15C>A (n.*15C>A)
c.295-12C>A (n.295-12C>A)
c.463C>A (p.His155Asn)
c.524C>A (p.Pro175Gln)
n.954C>A
c.502C>A (p.His168Asn)
c.580C>A (p.His194Asn)
c.691C>A (p.His231Asn)
c.605C>A (p.Pro202Gln)
19g.1106561C>GCA402940407GPX4c.694C>G (p.His232Asp)
c.563C>G (p.Pro188Arg)
c.577C>G (p.His193Asp)
c.199C>G (p.His67Asp)
c.583C>G (p.His195Asp)
c.*15C>G (n.*15C>G)
c.295-12C>G (n.295-12C>G)
c.463C>G (p.His155Asp)
c.524C>G (p.Pro175Arg)
n.954C>G
c.502C>G (p.His168Asp)
c.580C>G (p.His194Asp)
c.691C>G (p.His231Asp)
c.605C>G (p.Pro202Arg)
19g.1106561C>TCA402940406GPX4c.694C>T (p.His232Tyr)
c.563C>T (p.Pro188Leu)
c.577C>T (p.His193Tyr)
c.199C>T (p.His67Tyr)
c.583C>T (p.His195Tyr)
c.*15C>T (n.*15C>T)
c.295-12C>T (n.295-12C>T)
c.463C>T (p.His155Tyr)
c.524C>T (p.Pro175Leu)
n.954C>T
c.502C>T (p.His168Tyr)
c.580C>T (p.His194Tyr)
c.691C>T (p.His231Tyr)
c.605C>T (p.Pro202Leu)
19g.1106562delCA2588207881GPX4c.695del (p.His232ProfsTer?)
c.564del (p.Leu189TyrfsTer3)
c.578del (p.His193ProfsTer?)
c.200del (p.His67ProfsTer?)
c.584del (p.His195ProfsTer?)
c.*16del (n.*16del)
c.295-11del (n.295-11del)
c.464del (p.His155ProfsTer?)
c.525del (p.Leu176TyrfsTer3)
n.955del
c.503del (p.His168ProfsTer?)
c.581del (p.His194ProfsTer?)
c.692del (p.His231ProfsTer?)
c.606del (p.Leu203TyrfsTer3)
gnomAD v4
19g.1106562A=CA2317520750GPX4c.695A= (p.His232=)
c.564A= (p.Pro188=)
c.578A= (p.His193=)
c.200A= (p.His67=)
c.584A= (p.His195=)
c.*16A= (n.*16A=)
c.295-11A= (n.295-11A=)
c.464A= (p.His155=)
c.525A= (p.Pro175=)
n.955A=
c.503A= (p.His168=)
c.581A= (p.His194=)
c.692A= (p.His231=)
c.606A= (p.Pro202=)
19g.1106562A>CCA402940408GPX4c.695A>C (p.His232Pro)
c.564A>C (p.Pro188=)
c.578A>C (p.His193Pro)
c.200A>C (p.His67Pro)
c.584A>C (p.His195Pro)
c.*16A>C (n.*16A>C)
c.295-11A>C (n.295-11A>C)
c.464A>C (p.His155Pro)
c.525A>C (p.Pro175=)
n.955A>C
c.503A>C (p.His168Pro)
c.581A>C (p.His194Pro)
c.692A>C (p.His231Pro)
c.606A>C (p.Pro202=)
19g.1106562A>GCA402940409GPX4c.695A>G (p.His232Arg)
c.564A>G (p.Pro188=)
c.578A>G (p.His193Arg)
c.200A>G (p.His67Arg)
c.584A>G (p.His195Arg)
c.*16A>G (n.*16A>G)
c.295-11A>G (n.295-11A>G)
c.464A>G (p.His155Arg)
c.525A>G (p.Pro175=)
n.955A>G
c.503A>G (p.His168Arg)
c.581A>G (p.His194Arg)
c.692A>G (p.His231Arg)
c.606A>G (p.Pro202=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1106562A>TCA402940410GPX4c.695A>T (p.His232Leu)
c.564A>T (p.Pro188=)
c.578A>T (p.His193Leu)
c.200A>T (p.His67Leu)
c.584A>T (p.His195Leu)
c.*16A>T (n.*16A>T)
c.295-11A>T (n.295-11A>T)
c.464A>T (p.His155Leu)
c.525A>T (p.Pro175=)
n.955A>T
c.503A>T (p.His168Leu)
c.581A>T (p.His194Leu)
c.692A>T (p.His231Leu)
c.606A>T (p.Pro202=)
19g.1106563C>ACA402940411GPX4c.696C>A (p.His232Gln)
c.565C>A (p.Leu189Ile)
c.579C>A (p.His193Gln)
c.201C>A (p.His67Gln)
c.585C>A (p.His195Gln)
c.*17C>A (n.*17C>A)
c.295-10C>A (n.295-10C>A)
c.465C>A (p.His155Gln)
c.526C>A (p.Leu176Ile)
n.956C>A
c.504C>A (p.His168Gln)
c.582C>A (p.His194Gln)
c.693C>A (p.His231Gln)
c.607C>A (p.Leu203Ile)
19g.1106563C=CA2317520751GPX4c.696C= (p.His232=)
c.565C= (p.Leu189=)
c.579C= (p.His193=)
c.201C= (p.His67=)
c.585C= (p.His195=)
c.*17C= (n.*17C=)
c.295-10C= (n.295-10C=)
c.465C= (p.His155=)
c.526C= (p.Leu176=)
n.956C=
c.504C= (p.His168=)
c.582C= (p.His194=)
c.693C= (p.His231=)
c.607C= (p.Leu203=)
19g.1106563C>GCA402940412GPX4c.696C>G (p.His232Gln)
c.565C>G (p.Leu189Val)
c.579C>G (p.His193Gln)
c.201C>G (p.His67Gln)
c.585C>G (p.His195Gln)
c.*17C>G (n.*17C>G)
c.295-10C>G (n.295-10C>G)
c.465C>G (p.His155Gln)
c.526C>G (p.Leu176Val)
n.956C>G
c.504C>G (p.His168Gln)
c.582C>G (p.His194Gln)
c.693C>G (p.His231Gln)
c.607C>G (p.Leu203Val)
19g.1106563C>TCA504891053GPX4c.696C>T (p.His232=)
c.565C>T (p.Leu189=)
c.579C>T (p.His193=)
c.201C>T (p.His67=)
c.585C>T (p.His195=)
c.*17C>T (n.*17C>T)
c.295-10C>T (n.295-10C>T)
c.465C>T (p.His155=)
c.526C>T (p.Leu176=)
n.956C>T
c.504C>T (p.His168=)
c.582C>T (p.His194=)
c.693C>T (p.His231=)
c.607C>T (p.Leu203=)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.1106564T>ACA402940413GPX4c.697T>A (p.Tyr233Asn)
c.566T>A (p.Leu189Gln)
c.580T>A (p.Tyr194Asn)
c.202T>A (p.Tyr68Asn)
c.586T>A (p.Tyr196Asn)
c.*18T>A (n.*18T>A)
c.295-9T>A (n.295-9T>A)
c.466T>A
c.527T>A (p.Leu176Gln)
n.957T>A
c.505T>A (p.Tyr169Asn)
c.583T>A (p.Tyr195Asn)
c.694T>A (p.Tyr232Asn)
c.608T>A (p.Leu203Gln)
19g.1106564T>CCA9037529GPX4c.697T>C (p.Tyr233His)
c.566T>C (p.Leu189Pro)
c.580T>C (p.Tyr194His)
c.202T>C (p.Tyr68His)
c.586T>C (p.Tyr196His)
c.*18T>C (n.*18T>C)
c.295-9T>C (n.295-9T>C)
c.466T>C
c.527T>C (p.Leu176Pro)
n.957T>C
c.505T>C (p.Tyr169His)
c.583T>C (p.Tyr195His)
c.694T>C (p.Tyr232His)
c.608T>C (p.Leu203Pro)
dbSNP ExAC gnomAD v2
19g.1106564T>GCA402940414GPX4c.697T>G (p.Tyr233Asp)
c.566T>G (p.Leu189Arg)
c.580T>G (p.Tyr194Asp)
c.202T>G (p.Tyr68Asp)
c.586T>G (p.Tyr196Asp)
c.*18T>G (n.*18T>G)
c.295-9T>G (n.295-9T>G)
c.466T>G
c.527T>G (p.Leu176Arg)
n.957T>G
c.505T>G (p.Tyr169Asp)
c.583T>G (p.Tyr195Asp)
c.694T>G (p.Tyr232Asp)
c.608T>G (p.Leu203Arg)
19g.1106564T=CA2317520752GPX4c.697T= (p.Tyr233=)
c.566T= (p.Leu189=)
c.580T= (p.Tyr194=)
c.202T= (p.Tyr68=)
c.586T= (p.Tyr196=)
c.*18T= (n.*18T=)
c.295-9T= (n.295-9T=)
c.466T=
c.527T= (p.Leu176=)
n.957T=
c.505T= (p.Tyr169=)
c.583T= (p.Tyr195=)
c.694T= (p.Tyr232=)
c.608T= (p.Leu203=)
19g.1106565A=CA2317520753GPX4c.698A= (p.Tyr233=)
c.567A= (p.Leu189=)
c.581A= (p.Tyr194=)
c.203A= (p.Tyr68=)
c.587A= (p.Tyr196=)
c.*19A= (n.*19A=)
c.295-8A= (n.295-8A=)
c.528A= (p.Leu176=)
n.958A=
c.506A= (p.Tyr169=)
c.584A= (p.Tyr195=)
c.695A= (p.Tyr232=)
c.609A= (p.Leu203=)
19g.1106565A>CCA402940415GPX4c.698A>C (p.Tyr233Ser)
c.567A>C (p.Leu189=)
c.581A>C (p.Tyr194Ser)
c.203A>C (p.Tyr68Ser)
c.587A>C (p.Tyr196Ser)
c.*19A>C (n.*19A>C)
c.295-8A>C (n.295-8A>C)
c.528A>C (p.Leu176=)
n.958A>C
c.506A>C (p.Tyr169Ser)
c.584A>C (p.Tyr195Ser)
c.695A>C (p.Tyr232Ser)
c.609A>C (p.Leu203=)
19g.1106565A>GCA402940416GPX4c.698A>G (p.Tyr233Cys)
c.567A>G (p.Leu189=)
c.581A>G (p.Tyr194Cys)
c.203A>G (p.Tyr68Cys)
c.587A>G (p.Tyr196Cys)
c.*19A>G (n.*19A>G)
c.295-8A>G (n.295-8A>G)
c.528A>G (p.Leu176=)
n.958A>G
c.506A>G (p.Tyr169Cys)
c.584A>G (p.Tyr195Cys)
c.695A>G (p.Tyr232Cys)
c.609A>G (p.Leu203=)
dbSNP gnomAD v4
19g.1106565A>TCA402940417GPX4c.698A>T (p.Tyr233Phe)
c.567A>T (p.Leu189=)
c.581A>T (p.Tyr194Phe)
c.203A>T (p.Tyr68Phe)
c.587A>T (p.Tyr196Phe)
c.*19A>T (n.*19A>T)
c.295-8A>T (n.295-8A>T)
c.528A>T (p.Leu176=)
n.958A>T
c.506A>T (p.Tyr169Phe)
c.584A>T (p.Tyr195Phe)
c.695A>T (p.Tyr232Phe)
c.609A>T (p.Leu203=)
19g.1106566T>ACA402940420GPX4c.699T>A (p.Tyr233Ter)
c.568T>A (p.Phe190Ile)
c.582T>A (p.Tyr194Ter)
c.204T>A (p.Tyr68Ter)
c.588T>A (p.Tyr196Ter)
c.*20T>A (n.*20T>A)
c.295-7T>A (n.295-7T>A)
c.529T>A (p.Phe177Ile)
n.959T>A
c.507T>A (p.Tyr169Ter)
c.585T>A (p.Tyr195Ter)
c.696T>A (p.Tyr232Ter)
c.610T>A (p.Phe204Ile)
19g.1106566T>CCA402940419GPX4c.699T>C (p.Tyr233=)
c.568T>C (p.Phe190Leu)
c.582T>C (p.Tyr194=)
c.204T>C (p.Tyr68=)
c.588T>C (p.Tyr196=)
c.*20T>C (n.*20T>C)
c.295-7T>C (n.295-7T>C)
c.529T>C (p.Phe177Leu)
n.959T>C
c.507T>C (p.Tyr169=)
c.585T>C (p.Tyr195=)
c.696T>C (p.Tyr232=)
c.610T>C (p.Phe204Leu)
dbSNP
19g.1106566T>GCA402940418GPX4c.699T>G (p.Tyr233Ter)
c.568T>G (p.Phe190Val)
c.582T>G (p.Tyr194Ter)
c.204T>G (p.Tyr68Ter)
c.588T>G (p.Tyr196Ter)
c.*20T>G (n.*20T>G)
c.295-7T>G (n.295-7T>G)
c.529T>G (p.Phe177Val)
n.959T>G
c.507T>G (p.Tyr169Ter)
c.585T>G (p.Tyr195Ter)
c.696T>G (p.Tyr232Ter)
c.610T>G (p.Phe204Val)
19g.1106566T=CA2317520754GPX4c.699T= (p.Tyr233=)
c.568T= (p.Phe190=)
c.582T= (p.Tyr194=)
c.204T= (p.Tyr68=)
c.588T= (p.Tyr196=)
c.*20T= (n.*20T=)
c.295-7T= (n.295-7T=)
c.529T= (p.Phe177=)
n.959T=
c.507T= (p.Tyr169=)
c.585T= (p.Tyr195=)
c.696T= (p.Tyr232=)
c.610T= (p.Phe204=)
19g.1106567_1106568delCA2576545180GPX4c.700_701del (p.Phe234LeufsTer24)
c.569_570del (p.Phe190SerfsTer?)
c.583_584del (p.Phe195LeufsTer24)
c.205_206del (p.Phe69LeufsTer24)
c.589_590del (p.Phe197LeufsTer24)
c.*21_*22del (n.*21_*22del)
c.295-6_295-5del (n.295-6_295-5del)
c.530_531del (p.Phe177SerfsTer?)
n.960_961del
c.508_509del (p.Phe170LeufsTer24)
c.586_587del (p.Phe196LeufsTer24)
c.697_698del (p.Phe233LeufsTer24)
c.611_612del (p.Phe204SerfsTer?)
19g.1106567T>ACA402940421GPX4c.700T>A (p.Phe234Ile)
c.569T>A (p.Phe190Tyr)
c.583T>A (p.Phe195Ile)
c.205T>A (p.Phe69Ile)
c.589T>A (p.Phe197Ile)
c.*21T>A (n.*21T>A)
c.295-6T>A (n.295-6T>A)
c.530T>A (p.Phe177Tyr)
n.960T>A
c.508T>A (p.Phe170Ile)
c.586T>A (p.Phe196Ile)
c.697T>A (p.Phe233Ile)
c.611T>A (p.Phe204Tyr)
19g.1106567T>CCA402940422GPX4c.700T>C (p.Phe234Leu)
c.569T>C (p.Phe190Ser)
c.583T>C (p.Phe195Leu)
c.205T>C (p.Phe69Leu)
c.589T>C (p.Phe197Leu)
c.*21T>C (n.*21T>C)
c.295-6T>C (n.295-6T>C)
c.530T>C (p.Phe177Ser)
n.960T>C
c.508T>C (p.Phe170Leu)
c.586T>C (p.Phe196Leu)
c.697T>C (p.Phe233Leu)
c.611T>C (p.Phe204Ser)
19g.1106567T>GCA402940423GPX4c.700T>G (p.Phe234Val)
c.569T>G (p.Phe190Cys)
c.583T>G (p.Phe195Val)
c.205T>G (p.Phe69Val)
c.589T>G (p.Phe197Val)
c.*21T>G (n.*21T>G)
c.295-6T>G (n.295-6T>G)
c.530T>G (p.Phe177Cys)
n.960T>G
c.508T>G (p.Phe170Val)
c.586T>G (p.Phe196Val)
c.697T>G (p.Phe233Val)
c.611T>G (p.Phe204Cys)
gnomAD v4
19g.1106568T>ACA402940424GPX4c.701T>A (p.Phe234Tyr)
c.570T>A (p.Phe190Leu)
c.584T>A (p.Phe195Tyr)
c.206T>A (p.Phe69Tyr)
c.590T>A (p.Phe197Tyr)
c.*22T>A (n.*22T>A)
c.295-5T>A (n.295-5T>A)
c.531T>A (p.Phe177Leu)
n.961T>A
c.509T>A (p.Phe170Tyr)
c.587T>A (p.Phe196Tyr)
c.698T>A (p.Phe233Tyr)
c.612T>A (p.Phe204Leu)
19g.1106568T>CCA402940425GPX4c.701T>C (p.Phe234Ser)
c.570T>C (p.Phe190=)
c.584T>C (p.Phe195Ser)
c.206T>C (p.Phe69Ser)
c.590T>C (p.Phe197Ser)
c.*22T>C (n.*22T>C)
c.295-5T>C (n.295-5T>C)
c.531T>C (p.Phe177=)
n.961T>C
c.509T>C (p.Phe170Ser)
c.587T>C (p.Phe196Ser)
c.698T>C (p.Phe233Ser)
c.612T>C (p.Phe204=)
19g.1106568T>GCA402940426GPX4c.701T>G (p.Phe234Cys)
c.570T>G (p.Phe190Leu)
c.584T>G (p.Phe195Cys)
c.206T>G (p.Phe69Cys)
c.590T>G (p.Phe197Cys)
c.*22T>G (n.*22T>G)
c.295-5T>G (n.295-5T>G)
c.531T>G (p.Phe177Leu)
n.961T>G
c.509T>G (p.Phe170Cys)
c.587T>G (p.Phe196Cys)
c.698T>G (p.Phe233Cys)
c.612T>G (p.Phe204Leu)
19g.1106569C>ACA402940427GPX4c.702C>A (p.Phe234Leu)
c.571C>A (p.Leu191Ile)
c.585C>A (p.Phe195Leu)
c.207C>A (p.Phe69Leu)
c.591C>A (p.Phe197Leu)
c.*23C>A (n.*23C>A)
c.295-4C>A (n.295-4C>A)
c.532C>A (p.Leu178Ile)
n.962C>A
c.510C>A (p.Phe170Leu)
c.588C>A (p.Phe196Leu)
c.699C>A (p.Phe233Leu)
c.613C>A (p.Leu205Ile)
19g.1106569C=CA2317520755GPX4c.702C= (p.Phe234=)
c.571C= (p.Leu191=)
c.585C= (p.Phe195=)
c.207C= (p.Phe69=)
c.591C= (p.Phe197=)
c.*23C= (n.*23C=)
c.295-4C= (n.295-4C=)
c.532C= (p.Leu178=)
n.962C=
c.510C= (p.Phe170=)
c.588C= (p.Phe196=)
c.699C= (p.Phe233=)
c.613C= (p.Leu205=)
19g.1106569C>GCA402940428GPX4c.702C>G (p.Phe234Leu)
c.571C>G (p.Leu191Val)
c.585C>G (p.Phe195Leu)
c.207C>G (p.Phe69Leu)
c.591C>G (p.Phe197Leu)
c.*23C>G (n.*23C>G)
c.295-4C>G (n.295-4C>G)
c.532C>G (p.Leu178Val)
n.962C>G
c.510C>G (p.Phe170Leu)
c.588C>G (p.Phe196Leu)
c.699C>G (p.Phe233Leu)
c.613C>G (p.Leu205Val)
gnomAD v4
19g.1106569C>TCA504891054GPX4c.702C>T (p.Phe234=)
c.571C>T (p.Leu191=)
c.585C>T (p.Phe195=)
c.207C>T (p.Phe69=)
c.591C>T (p.Phe197=)
c.*23C>T (n.*23C>T)
c.295-4C>T (n.295-4C>T)
c.532C>T (p.Leu178=)
n.962C>T
c.510C>T (p.Phe170=)
c.588C>T (p.Phe196=)
c.699C>T (p.Phe233=)
c.613C>T (p.Leu205=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1106570T>ACA402940429GPX4c.703T>A (p.Ter235Lys)
c.572T>A (p.Leu191Gln)
c.586T>A (p.Ter196Lys)
c.208T>A (p.Ter70Lys)
c.592T>A (p.Ter198Lys)
c.*24T>A (n.*24T>A)
c.295-3T>A (n.295-3T>A)
c.533T>A (p.Leu178Gln)
n.963T>A
c.511T>A (p.Ter171Lys)
c.589T>A (p.Ter197Lys)
c.700T>A (p.Ter234Lys)
c.614T>A (p.Leu205Gln)
19g.1106570T>CCA402940430GPX4c.703T>C (p.Ter235Gln)
c.572T>C (p.Leu191Pro)
c.586T>C (p.Ter196Gln)
c.208T>C (p.Ter70Gln)
c.592T>C (p.Ter198Gln)
c.*24T>C (n.*24T>C)
c.295-3T>C (n.295-3T>C)
c.533T>C (p.Leu178Pro)
n.963T>C
c.511T>C (p.Ter171Gln)
c.589T>C (p.Ter197Gln)
c.700T>C (p.Ter234Gln)
c.614T>C (p.Leu205Pro)
gnomAD v4
19g.1106570T>GCA402940431GPX4c.703T>G (p.Ter235Glu)
c.572T>G (p.Leu191Arg)
c.586T>G (p.Ter196Glu)
c.208T>G (p.Ter70Glu)
c.592T>G (p.Ter198Glu)
c.*24T>G (n.*24T>G)
c.295-3T>G (n.295-3T>G)
c.533T>G (p.Leu178Arg)
n.963T>G
c.511T>G (p.Ter171Glu)
c.589T>G (p.Ter197Glu)
c.700T>G (p.Ter234Glu)
c.614T>G (p.Leu205Arg)
gnomAD v4
19g.1106571A>CCA402940434GPX4c.704A>C (p.Ter235Ser)
c.573A>C (p.Leu191=)
c.587A>C (p.Ter196Ser)
c.209A>C (p.Ter70Ser)
c.593A>C (p.Ter198Ser)
c.*25A>C (n.*25A>C)
c.295-2A>C (n.295-2A>C)
c.534A>C (p.Leu178=)
n.964A>C
c.512A>C (p.Ter171Ser)
c.590A>C (p.Ter197Ser)
c.701A>C (p.Ter234Ser)
c.615A>C (p.Leu205=)
19g.1106571A>GCA402940433GPX4c.704A>G (p.Ter235Trp)
c.573A>G (p.Leu191=)
c.587A>G (p.Ter196Trp)
c.209A>G (p.Ter70Trp)
c.593A>G (p.Ter198Trp)
c.*25A>G (n.*25A>G)
c.295-2A>G (n.295-2A>G)
c.534A>G (p.Leu178=)
n.964A>G
c.512A>G (p.Ter171Trp)
c.590A>G (p.Ter197Trp)
c.701A>G (p.Ter234Trp)
c.615A>G (p.Leu205=)
19g.1106571A>TCA402940432GPX4c.704A>T (p.Ter235Leu)
c.573A>T (p.Leu191=)
c.587A>T (p.Ter196Leu)
c.209A>T (p.Ter70Leu)
c.593A>T (p.Ter198Leu)
c.*25A>T (n.*25A>T)
c.295-2A>T (n.295-2A>T)
c.534A>T (p.Leu178=)
n.964A>T
c.512A>T (p.Ter171Leu)
c.590A>T (p.Ter197Leu)
c.701A>T (p.Ter234Leu)
c.615A>T (p.Leu205=)
19g.1106572G>ACA402940435GPX4c.705G>A (p.Ter235=)
c.574G>A (p.Ala192Thr)
c.588G>A (p.Ter196=)
c.210G>A (p.Ter70=)
c.594G>A (p.Ter198=)
c.*26G>A (n.*26G>A)
c.295-1G>A (n.295-1G>A)
c.535G>A (p.Ala179Thr)
n.965G>A
c.513G>A (p.Ter171=)
c.591G>A (p.Ter197=)
c.702G>A (p.Ter234=)
c.616G>A (p.Ala206Thr)
gnomAD v4
19g.1106572G>CCA9037530GPX4c.705G>C (p.Ter235Tyr)
c.574G>C (p.Ala192Pro)
c.588G>C (p.Ter196Tyr)
c.210G>C (p.Ter70Tyr)
c.594G>C (p.Ter198Tyr)
c.*26G>C (n.*26G>C)
c.295-1G>C (n.295-1G>C)
c.535G>C (p.Ala179Pro)
n.965G>C
c.513G>C (p.Ter171Tyr)
c.591G>C (p.Ter197Tyr)
c.702G>C (p.Ter234Tyr)
c.616G>C (p.Ala206Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106572G=CA2317520756GPX4c.705G= (p.Ter235=)
c.574G= (p.Ala192=)
c.588G= (p.Ter196=)
c.210G= (p.Ter70=)
c.594G= (p.Ter198=)
c.*26G= (n.*26G=)
c.295-1G= (n.295-1G=)
c.535G= (p.Ala179=)
n.965G=
c.513G= (p.Ter171=)
c.591G= (p.Ter197=)
c.702G= (p.Ter234=)
c.616G= (p.Ala206=)
19g.1106572G>TCA402940436GPX4c.705G>T (p.Ter235Tyr)
c.574G>T (p.Ala192Ser)
c.588G>T (p.Ter196Tyr)
c.210G>T (p.Ter70Tyr)
c.594G>T (p.Ter198Tyr)
c.*26G>T (n.*26G>T)
c.295-1G>T (n.295-1G>T)
c.535G>T (p.Ala179Ser)
n.965G>T
c.513G>T (p.Ter171Tyr)
c.591G>T (p.Ter197Tyr)
c.702G>T (p.Ter234Tyr)
c.616G>T (p.Ala206Ser)
19g.1106573C>ACA9037531GPX4c.*1C>A (n.*1C>A)
c.575C>A (p.Ala192Asp)
c.*27C>A (n.*27C>A)
c.295C>A (p.Leu99Ile)
c.536C>A (p.Ala179Asp)
n.966C>A
c.617C>A (p.Ala206Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1106573C=CA2317520757GPX4c.*1C= (n.*1C=)
c.575C= (p.Ala192=)
c.*27C= (n.*27C=)
c.295C= (p.Leu99=)
c.536C= (p.Ala179=)
n.966C=
c.617C= (p.Ala206=)
19g.1106573C>GCA402940437GPX4c.*1C>G (n.*1C>G)
c.575C>G (p.Ala192Gly)
c.*27C>G (n.*27C>G)
c.295C>G (p.Leu99Val)
c.536C>G (p.Ala179Gly)
n.966C>G
c.617C>G (p.Ala206Gly)
19g.1106573C>TCA402940438GPX4c.*1C>T (n.*1C>T)
c.575C>T (p.Ala192Val)
c.*27C>T (n.*27C>T)
c.295C>T (p.Leu99Phe)
c.536C>T (p.Ala179Val)
n.966C>T
c.617C>T (p.Ala206Val)
19g.1106575C>ACA402940439GPX4c.*3C>A (n.*3C>A)
c.577C>A (p.Pro193Thr)
c.*29C>A (n.*29C>A)
c.297C>A (p.Leu99=)
c.538C>A (p.Pro180Thr)
n.968C>A
c.619C>A (p.Pro207Thr)
19g.1106575C=CA2317520758GPX4c.*3C= (n.*3C=)
c.577C= (p.Pro193=)
c.*29C= (n.*29C=)
c.297C= (p.Leu99=)
c.538C= (p.Pro180=)
n.968C=
c.619C= (p.Pro207=)
19g.1106575C>GCA402940440GPX4c.*3C>G (n.*3C>G)
c.577C>G (p.Pro193Ala)
c.*29C>G (n.*29C>G)
c.297C>G (p.Leu99=)
c.538C>G (p.Pro180Ala)
n.968C>G
c.619C>G (p.Pro207Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1106575C>TCA402940441GPX4c.*3C>T (n.*3C>T)
c.577C>T (p.Pro193Ser)
c.*29C>T (n.*29C>T)
c.297C>T (p.Leu99=)
c.538C>T (p.Pro180Ser)
n.968C>T
c.619C>T (p.Pro207Ser)
19g.1106576C>ACA402940442GPX4c.*4C>A (n.*4C>A)
c.578C>A (p.Pro193Gln)
c.*30C>A (n.*30C>A)
c.298C>A (p.His100Asn)
c.539C>A (p.Pro180Gln)
n.969C>A
c.620C>A (p.Pro207Gln)
19g.1106576C=CA2317520759GPX4c.*4C= (n.*4C=)
c.578C= (p.Pro193=)
c.*30C= (n.*30C=)
c.298C= (p.His100=)
c.539C= (p.Pro180=)
n.969C=
c.620C= (p.Pro207=)
19g.1106576C>GCA402940443GPX4c.*4C>G (n.*4C>G)
c.578C>G (p.Pro193Arg)
c.*30C>G (n.*30C>G)
c.298C>G (p.His100Asp)
c.539C>G (p.Pro180Arg)
n.969C>G
c.620C>G (p.Pro207Arg)
19g.1106576C>TCA402940444GPX4c.*4C>T (n.*4C>T)
c.578C>T (p.Pro193Leu)
c.*30C>T (n.*30C>T)
c.298C>T (p.His100Tyr)
c.539C>T (p.Pro180Leu)
n.969C>T
c.620C>T (p.Pro207Leu)
dbSNP
19g.1106577A=CA2317520760GPX4c.*5A= (n.*5A=)
c.579A= (p.Pro193=)
c.*31A= (n.*31A=)
c.299A= (p.His100=)
c.540A= (p.Pro180=)
n.970A=
c.621A= (p.Pro207=)
19g.1106577A>CCA9037532GPX4c.*5A>C (n.*5A>C)
c.579A>C (p.Pro193=)
c.*31A>C (n.*31A>C)
c.299A>C (p.His100Pro)
c.540A>C (p.Pro180=)
n.970A>C
c.621A>C (p.Pro207=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106577A>GCA914289393GPX4c.*5A>G (n.*5A>G)
c.579A>G (p.Pro193=)
c.*31A>G (n.*31A>G)
c.299A>G (p.His100Arg)
c.540A>G (p.Pro180=)
n.970A>G
c.621A>G (p.Pro207=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1106577A>TCA2588207882GPX4c.*5A>T (n.*5A>T)
c.579A>T (p.Pro193=)
c.*31A>T (n.*31A>T)
c.299A>T (p.His100Leu)
c.540A>T (p.Pro180=)
n.970A>T
c.621A>T (p.Pro207=)
gnomAD v4
19g.1106578C>ACA402940446GPX4c.*6C>A (n.*6C>A)
c.580C>A (p.Gln194Lys)
c.*32C>A (n.*32C>A)
c.300C>A (p.His100Gln)
c.541C>A (p.Gln181Lys)
n.971C>A
c.622C>A (p.Gln208Lys)
19g.1106578C=CA2317520761GPX4c.*6C= (n.*6C=)
c.580C= (p.Gln194=)
c.*32C= (n.*32C=)
c.300C= (p.His100=)
c.541C= (p.Gln181=)
n.971C=
c.622C= (p.Gln208=)
19g.1106578C>GCA9037533GPX4c.*6C>G (n.*6C>G)
c.580C>G (p.Gln194Glu)
c.*32C>G (n.*32C>G)
c.300C>G (p.His100Gln)
c.541C>G (p.Gln181Glu)
n.971C>G
c.622C>G (p.Gln208Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1106578C>TCA402940445GPX4c.*6C>T (n.*6C>T)
c.580C>T (p.Gln194Ter)
c.*32C>T (n.*32C>T)
c.300C>T (p.His100=)
c.541C>T (p.Gln181Ter)
n.971C>T
c.622C>T (p.Gln208Ter)
19g.1106579A>CCA402940447GPX4c.*7A>C (n.*7A>C)
c.581A>C (p.Gln194Pro)
c.*33A>C (n.*33A>C)
c.301A>C (p.Lys101Gln)
c.542A>C (p.Gln181Pro)
n.972A>C
c.623A>C (p.Gln208Pro)
19g.1106579A>GCA402940448GPX4c.*7A>G (n.*7A>G)
c.581A>G (p.Gln194Arg)
c.*33A>G (n.*33A>G)
c.301A>G (p.Lys101Glu)
c.542A>G (p.Gln181Arg)
n.972A>G
c.623A>G (p.Gln208Arg)
19g.1106579A>TCA402940449GPX4c.*7A>T (n.*7A>T)
c.581A>T (p.Gln194Leu)
c.*33A>T (n.*33A>T)
c.301A>T (p.Lys101Ter)
c.542A>T (p.Gln181Leu)
n.972A>T
c.623A>T (p.Gln208Leu)
19g.1106580A=CA2317520762GPX4c.*8A= (n.*8A=)
c.582A= (p.Gln194=)
c.*34A= (n.*34A=)
c.302A= (p.Lys101=)
c.543A= (p.Gln181=)
n.973A=
c.624A= (p.Gln208=)
19g.1106580A>CCA402940450GPX4c.*8A>C (n.*8A>C)
c.582A>C (p.Gln194His)
c.*34A>C (n.*34A>C)
c.302A>C (p.Lys101Thr)
c.543A>C (p.Gln181His)
n.973A>C
c.624A>C (p.Gln208His)
19g.1106580A>GCA9037534GPX4c.*8A>G (n.*8A>G)
c.582A>G (p.Gln194=)
c.*34A>G (n.*34A>G)
c.302A>G (p.Lys101Arg)
c.543A>G (p.Gln181=)
n.973A>G
c.624A>G (p.Gln208=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1106580A>TCA402940451GPX4c.*8A>T (n.*8A>T)
c.582A>T (p.Gln194His)
c.*34A>T (n.*34A>T)
c.302A>T (p.Lys101Met)
c.543A>T (p.Gln181His)
n.973A>T
c.624A>T (p.Gln208His)
19g.1106581G>ACA9037535GPX4c.*9G>A (n.*9G>A)
c.583G>A (p.Val195Met)
c.*35G>A (n.*35G>A)
c.303G>A (p.Lys101=)
c.544G>A (p.Val182Met)
n.974G>A
c.625G>A (p.Val209Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106581G>CCA402940452GPX4c.*9G>C (n.*9G>C)
c.583G>C (p.Val195Leu)
c.*35G>C (n.*35G>C)
c.303G>C (p.Lys101Asn)
c.544G>C (p.Val182Leu)
n.974G>C
c.625G>C (p.Val209Leu)
19g.1106581G=CA2317520763GPX4c.*9G= (n.*9G=)
c.583G= (p.Val195=)
c.*35G= (n.*35G=)
c.303G= (p.Lys101=)
c.544G= (p.Val182=)
n.974G=
c.625G= (p.Val209=)
19g.1106581G>TCA402940453GPX4c.*9G>T (n.*9G>T)
c.583G>T (p.Val195Leu)
c.*35G>T (n.*35G>T)
c.303G>T (p.Lys101Asn)
c.544G>T (p.Val182Leu)
n.974G>T
c.625G>T (p.Val209Leu)
19g.1106582T>ACA402940454GPX4c.*10T>A (n.*10T>A)
c.584T>A (p.Val195Glu)
c.*36T>A (n.*36T>A)
c.304T>A (p.Cys102Ser)
c.545T>A (p.Val182Glu)
n.975T>A
c.626T>A (p.Val209Glu)
19g.1106582T>CCA402940455GPX4c.*10T>C (n.*10T>C)
c.584T>C (p.Val195Ala)
c.*36T>C (n.*36T>C)
c.304T>C (p.Cys102Arg)
c.545T>C (p.Val182Ala)
n.975T>C
c.626T>C (p.Val209Ala)
dbSNP gnomAD v2 gnomAD v4
19g.1106582T>GCA402940456GPX4c.*10T>G (n.*10T>G)
c.584T>G (p.Val195Gly)
c.*36T>G (n.*36T>G)
c.304T>G (p.Cys102Gly)
c.545T>G (p.Val182Gly)
n.975T>G
c.626T>G (p.Val209Gly)
19g.1106582T=CA2317520764GPX4c.*10T= (n.*10T=)
c.584T= (p.Val195=)
c.*36T= (n.*36T=)
c.304T= (p.Cys102=)
c.545T= (p.Val182=)
n.975T=
c.626T= (p.Val209=)
19g.1106583G>ACA2576545181GPX4c.*11G>A (n.*11G>A)
c.585G>A (p.Val195=)
c.*37G>A (n.*37G>A)
c.305G>A (p.Cys102Tyr)
c.546G>A (p.Val182=)
n.976G>A
c.627G>A (p.Val209=)
gnomAD v4
19g.1106583G>TCA2588207883GPX4c.*11G>T (n.*11G>T)
c.585G>T (p.Val195=)
c.*37G>T (n.*37G>T)
c.305G>T (p.Cys102Phe)
c.546G>T (p.Val182=)
n.976G>T
c.627G>T (p.Val209=)
gnomAD v4
19g.1106584T>ACA402940458GPX4c.*12T>A (n.*12T>A)
c.586T>A (p.Cys196Ser)
c.*38T>A (n.*38T>A)
c.306T>A (p.Cys102Ter)
c.547T>A (p.Cys183Ser)
n.977T>A
c.628T>A (p.Cys210Ser)
gnomAD v4
19g.1106584T>CCA402940459GPX4c.*12T>C (n.*12T>C)
c.586T>C (p.Cys196Arg)
c.*38T>C (n.*38T>C)
c.306T>C (p.Cys102=)
c.547T>C (p.Cys183Arg)
n.977T>C
c.628T>C (p.Cys210Arg)
19g.1106584T>GCA402940457GPX4c.*12T>G (n.*12T>G)
c.586T>G (p.Cys196Gly)
c.*38T>G (n.*38T>G)
c.306T>G (p.Cys102Trp)
c.547T>G (p.Cys183Gly)
n.977T>G
c.628T>G (p.Cys210Gly)
19g.1106585G>ACA402940462GPX4c.*13G>A (n.*13G>A)
c.587G>A (p.Cys196Tyr)
c.*39G>A (n.*39G>A)
c.307G>A (p.Val103Met)
c.548G>A (p.Cys183Tyr)
n.978G>A
c.629G>A (p.Cys210Tyr)
dbSNP gnomAD v2 gnomAD v4
19g.1106585G>CCA402940460GPX4c.*13G>C (n.*13G>C)
c.587G>C (p.Cys196Ser)
c.*39G>C (n.*39G>C)
c.307G>C (p.Val103Leu)
c.548G>C (p.Cys183Ser)
n.978G>C
c.629G>C (p.Cys210Ser)
19g.1106585G=CA2317520765GPX4c.*13G= (n.*13G=)
c.587G= (p.Cys196=)
c.*39G= (n.*39G=)
c.307G= (p.Val103=)
c.548G= (p.Cys183=)
n.978G=
c.629G= (p.Cys210=)
19g.1106585G>TCA402940461GPX4c.*13G>T (n.*13G>T)
c.587G>T (p.Cys196Phe)
c.*39G>T (n.*39G>T)
c.307G>T (p.Val103Leu)
c.548G>T (p.Cys183Phe)
n.978G>T
c.629G>T (p.Cys210Phe)
19g.1106585_1106602dupCA2588207884GPX4c.*13_*30dup (n.*13_*30dup)
c.587_604dup (p.Ala201_Pro202insArgGlyProAlaArgAla)
c.*39_*56dup (n.*39_*56dup)
c.307_324dup (p.Pro108_Leu109insValAlaProProGluPro)
c.548_565dup (p.Ala188_Pro189insArgGlyProAlaArgAla)
n.978_995dup
c.629_646dup (p.Ala215_Pro216insArgGlyProAlaArgAla)
gnomAD v4
19g.1106586T>ACA402940463GPX4c.*14T>A (n.*14T>A)
c.588T>A (p.Cys196Ter)
c.*40T>A (n.*40T>A)
c.308T>A (p.Val103Glu)
c.549T>A (p.Cys183Ter)
n.979T>A
c.630T>A (p.Cys210Ter)
19g.1106586T>CCA9037536GPX4c.*14T>C (n.*14T>C)
c.588T>C (p.Cys196=)
c.*40T>C (n.*40T>C)
c.308T>C (p.Val103Ala)
c.549T>C (p.Cys183=)
n.979T>C
c.630T>C (p.Cys210=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106586T>GCA402940464GPX4c.*14T>G (n.*14T>G)
c.588T>G (p.Cys196Trp)
c.*40T>G (n.*40T>G)
c.308T>G (p.Val103Gly)
c.549T>G (p.Cys183Trp)
n.979T>G
c.630T>G (p.Cys210Trp)
dbSNP gnomAD v2 gnomAD v4
19g.1106586T=CA2317520766GPX4c.*14T= (n.*14T=)
c.588T= (p.Cys196=)
c.*40T= (n.*40T=)
c.308T= (p.Val103=)
c.549T= (p.Cys183=)
n.979T=
c.630T= (p.Cys210=)
19g.1106587G>ACA402940467GPX4c.*15G>A (n.*15G>A)
c.589G>A (p.Gly197Ser)
c.*41G>A (n.*41G>A)
c.309G>A (p.Val103=)
c.550G>A (p.Gly184Ser)
n.980G>A
c.631G>A (p.Gly211Ser)
dbSNP gnomAD v3 gnomAD v4
19g.1106587G>CCA402940466GPX4c.*15G>C (n.*15G>C)
c.589G>C (p.Gly197Arg)
c.*41G>C (n.*41G>C)
c.309G>C (p.Val103=)
c.550G>C (p.Gly184Arg)
n.980G>C
c.631G>C (p.Gly211Arg)
19g.1106587G=CA2317520767GPX4c.*15G= (n.*15G=)
c.589G= (p.Gly197=)
c.*41G= (n.*41G=)
c.309G= (p.Val103=)
c.550G= (p.Gly184=)
n.980G=
c.631G= (p.Gly211=)
19g.1106587G>TCA402940465GPX4c.*15G>T (n.*15G>T)
c.589G>T (p.Gly197Cys)
c.*41G>T (n.*41G>T)
c.309G>T (p.Val103=)
c.550G>T (p.Gly184Cys)
n.980G>T
c.631G>T (p.Gly211Cys)
19g.1106588G>ACA402940468GPX4c.*16G>A (n.*16G>A)
c.590G>A (p.Gly197Asp)
c.*42G>A (n.*42G>A)
c.310G>A (p.Ala104Thr)
c.551G>A (p.Gly184Asp)
n.981G>A
c.632G>A (p.Gly211Asp)
19g.1106588G>CCA402940469GPX4c.*16G>C (n.*16G>C)
c.590G>C (p.Gly197Ala)
c.*42G>C (n.*42G>C)
c.310G>C (p.Ala104Pro)
c.551G>C (p.Gly184Ala)
n.981G>C
c.632G>C (p.Gly211Ala)
19g.1106588G=CA2317520768GPX4c.*16G= (n.*16G=)
c.590G= (p.Gly197=)
c.*42G= (n.*42G=)
c.310G= (p.Ala104=)
c.551G= (p.Gly184=)
n.981G=
c.632G= (p.Gly211=)
19g.1106588G>TCA402940470GPX4c.*16G>T (n.*16G>T)
c.590G>T (p.Gly197Val)
c.*42G>T (n.*42G>T)
c.310G>T (p.Ala104Ser)
c.551G>T (p.Gly184Val)
n.981G>T
c.632G>T (p.Gly211Val)
dbSNP gnomAD v4
19g.1106588_1106589delinsGCCA2317520769GPX4c.*16_*17delinsGC (n.*16_*17delinsGC)
c.590_591delinsGC (p.Gly197=)
c.*42_*43delinsGC (n.*42_*43delinsGC)
c.310_311delinsGC (p.Ala104=)
c.551_552delinsGC (p.Gly184=)
n.981_982delinsGC
c.632_633delinsGC (p.Gly211=)
19g.1106589C=CA2317520771GPX4c.*17C= (n.*17C=)
c.591C= (p.Gly197=)
c.*43C= (n.*43C=)
c.311C= (p.Ala104=)
c.552C= (p.Gly184=)
n.982C=
c.633C= (p.Gly211=)
19g.1106589C>TCA303995336GPX4c.*17C>T (n.*17C>T)
c.591C>T (p.Gly197=)
c.*43C>T (n.*43C>T)
c.311C>T (p.Ala104Val)
c.552C>T (p.Gly184=)
n.982C>T
c.633C>T (p.Gly211=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1106592delCA2317520770GPX4c.*20del (n.*20del)
c.594del (p.Ala199ProfsTer?)
c.*46del (n.*46del)
c.314del (p.Pro105ArgfsTer?)
c.555del (p.Ala186ProfsTer?)
n.985del
c.636del (p.Ala213ProfsTer?)
dbSNP
19g.1106590C>ACA402940471GPX4c.*18C>A (n.*18C>A)
c.592C>A (p.Pro198Thr)
c.*44C>A (n.*44C>A)
c.312C>A (p.Ala104=)
c.553C>A (p.Pro185Thr)
n.983C>A
c.634C>A (p.Pro212Thr)
19g.1106590C>GCA402940472GPX4c.*18C>G (n.*18C>G)
c.592C>G (p.Pro198Ala)
c.*44C>G (n.*44C>G)
c.312C>G (p.Ala104=)
c.553C>G (p.Pro185Ala)
n.983C>G
c.634C>G (p.Pro212Ala)
19g.1106590C>TCA402940473GPX4c.*18C>T (n.*18C>T)
c.592C>T (p.Pro198Ser)
c.*44C>T (n.*44C>T)
c.312C>T (p.Ala104=)
c.553C>T (p.Pro185Ser)
n.983C>T
c.634C>T (p.Pro212Ser)
gnomAD v4
19g.1106591C>ACA402940475GPX4c.*19C>A (n.*19C>A)
c.593C>A (p.Pro198His)
c.*45C>A (n.*45C>A)
c.313C>A (p.Pro105Thr)
c.554C>A (p.Pro185His)
n.984C>A
c.635C>A (p.Pro212His)
19g.1106591C=CA2317520772GPX4c.*19C= (n.*19C=)
c.593C= (p.Pro198=)
c.*45C= (n.*45C=)
c.313C= (p.Pro105=)
c.554C= (p.Pro185=)
n.984C=
c.635C= (p.Pro212=)
19g.1106591C>GCA402940474GPX4c.*19C>G (n.*19C>G)
c.593C>G (p.Pro198Arg)
c.*45C>G (n.*45C>G)
c.313C>G (p.Pro105Ala)
c.554C>G (p.Pro185Arg)
n.984C>G
c.635C>G (p.Pro212Arg)
19g.1106591C>TCA9037537GPX4c.*19C>T (n.*19C>T)
c.593C>T (p.Pro198Leu)
c.*45C>T (n.*45C>T)
c.313C>T (p.Pro105Ser)
c.554C>T (p.Pro185Leu)
n.984C>T
c.635C>T (p.Pro212Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1106591_1106592insTCA657239073GPX4c.*19_*20insT (n.*19_*20insT)
c.593_594insT (p.Ala199ArgfsTer?)
c.*45_*46insT (n.*45_*46insT)
c.313_314insT (p.Pro105LeufsTer17)
c.554_555insT (p.Ala186ArgfsTer?)
n.984_985insT
c.635_636insT (p.Ala213ArgfsTer?)
COSMIC
19g.1106592C=CA2317520773GPX4c.*20C= (n.*20C=)
c.594C= (p.Pro198=)
c.*46C= (n.*46C=)
c.314C= (p.Pro105=)
c.555C= (p.Pro185=)
n.985C=
c.636C= (p.Pro212=)
19g.1106592C>TCA9037538GPX4c.*20C>T (n.*20C>T)
c.594C>T (p.Pro198=)
c.*46C>T (n.*46C>T)
c.314C>T (p.Pro105Leu)
c.555C>T (p.Pro185=)
n.985C>T
c.636C>T (p.Pro212=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106592_1106593insTCA657239075GPX4c.*20_*21insT (n.*20_*21insT)
c.594_595insT (p.Ala199CysfsTer?)
c.*46_*47insT (n.*46_*47insT)
c.314_315insT (p.Pro106AlafsTer16)
c.555_556insT (p.Ala186CysfsTer?)
n.985_986insT
c.636_637insT (p.Ala213CysfsTer?)
19g.1106593G>ACA9037539GPX4c.*21G>A (n.*21G>A)
c.595G>A (p.Ala199Thr)
c.*47G>A (n.*47G>A)
c.315G>A (p.Pro105=)
c.556G>A (p.Ala186Thr)
n.986G>A
c.637G>A (p.Ala213Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106593G>CCA402940476GPX4c.*21G>C (n.*21G>C)
c.595G>C (p.Ala199Pro)
c.*47G>C (n.*47G>C)
c.315G>C (p.Pro105=)
c.556G>C (p.Ala186Pro)
n.986G>C
c.637G>C (p.Ala213Pro)
19g.1106593G=CA2317520774GPX4c.*21G= (n.*21G=)
c.595G= (p.Ala199=)
c.*47G= (n.*47G=)
c.315G= (p.Pro105=)
c.556G= (p.Ala186=)
n.986G=
c.637G= (p.Ala213=)
19g.1106593G>TCA402940477GPX4c.*21G>T (n.*21G>T)
c.595G>T (p.Ala199Ser)
c.*47G>T (n.*47G>T)
c.315G>T (p.Pro105=)
c.556G>T (p.Ala186Ser)
n.986G>T
c.637G>T (p.Ala213Ser)
gnomAD v4
19g.1106594C>ACA402940478GPX4c.*22C>A (n.*22C>A)
c.596C>A (p.Ala199Asp)
c.*48C>A (n.*48C>A)
c.316C>A (p.Pro106Thr)
c.557C>A (p.Ala186Asp)
n.987C>A
c.638C>A (p.Ala213Asp)
19g.1106594C>GCA402940479GPX4c.*22C>G (n.*22C>G)
c.596C>G (p.Ala199Gly)
c.*48C>G (n.*48C>G)
c.316C>G (p.Pro106Ala)
c.557C>G (p.Ala186Gly)
n.987C>G
c.638C>G (p.Ala213Gly)
19g.1106594C>TCA402940480GPX4c.*22C>T (n.*22C>T)
c.596C>T (p.Ala199Val)
c.*48C>T (n.*48C>T)
c.316C>T (p.Pro106Ser)
c.557C>T (p.Ala186Val)
n.987C>T
c.638C>T (p.Ala213Val)
19g.1106595C=CA2317520775GPX4c.*23C= (n.*23C=)
c.597C= (p.Ala199=)
c.*49C= (n.*49C=)
c.317C= (p.Pro106=)
c.558C= (p.Ala186=)
n.988C=
c.639C= (p.Ala213=)
19g.1106596C>ACA2588207885GPX4c.*24C>A (n.*24C>A)
c.598C>A (p.Arg200=)
c.*50C>A (n.*50C>A)
c.318C>A (p.Pro106=)
c.559C>A (p.Arg187=)
n.989C>A
c.640C>A (p.Arg214=)
gnomAD v4
19g.1106596C=CA2317520776GPX4c.*24C= (n.*24C=)
c.598C= (p.Arg200=)
c.*50C= (n.*50C=)
c.318C= (p.Pro106=)
c.559C= (p.Arg187=)
n.989C=
c.640C= (p.Arg214=)
19g.1106596C>GCA9037541GPX4c.*24C>G (n.*24C>G)
c.598C>G (p.Arg200Gly)
c.*50C>G (n.*50C>G)
c.318C>G (p.Pro106=)
c.559C>G (p.Arg187Gly)
n.989C>G
c.640C>G (p.Arg214Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106596C>TCA9037542GPX4c.*24C>T (n.*24C>T)
c.598C>T (p.Arg200Ter)
c.*50C>T (n.*50C>T)
c.318C>T (p.Pro106=)
c.559C>T (p.Arg187Ter)
n.989C>T
c.640C>T (p.Arg214Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106597_1106612dupCA9037540GPX4c.*25_*40dup (n.*25_*40dup)
c.599_614dup (p.Leu206SerfsTer?)
c.*51_*66dup (n.*51_*66dup)
c.319_334dup (p.Pro112ArgfsTer15)
c.560_575dup (p.Leu193SerfsTer?)
n.990_1005dup
c.641_656dup (p.Leu220SerfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106597G>ACA9037543GPX4c.*25G>A (n.*25G>A)
c.599G>A (p.Arg200Gln)
c.*51G>A (n.*51G>A)
c.319G>A (p.Glu107Lys)
c.560G>A (p.Arg187Gln)
n.990G>A
c.641G>A (p.Arg214Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106597G>CCA402940481GPX4c.*25G>C (n.*25G>C)
c.599G>C (p.Arg200Pro)
c.*51G>C (n.*51G>C)
c.319G>C (p.Glu107Gln)
c.560G>C (p.Arg187Pro)
n.990G>C
c.641G>C (p.Arg214Pro)
dbSNP
19g.1106597G=CA2317520777GPX4c.*25G= (n.*25G=)
c.599G= (p.Arg200=)
c.*51G= (n.*51G=)
c.319G= (p.Glu107=)
c.560G= (p.Arg187=)
n.990G=
c.641G= (p.Arg214=)
19g.1106597G>TCA402940482GPX4c.*25G>T (n.*25G>T)
c.599G>T (p.Arg200Leu)
c.*51G>T (n.*51G>T)
c.319G>T (p.Glu107Ter)
c.560G>T (p.Arg187Leu)
n.990G>T
c.641G>T (p.Arg214Leu)
19g.1106598A>CCA2588207886GPX4c.*26A>C (n.*26A>C)
c.600A>C (p.Arg200=)
c.*52A>C (n.*52A>C)
c.320A>C (p.Glu107Ala)
c.561A>C (p.Arg187=)
n.991A>C
c.642A>C (p.Arg214=)
gnomAD v4
19g.1106599G>ACA9037544GPX4c.*27G>A (n.*27G>A)
c.601G>A (p.Ala201Thr)
c.*53G>A (n.*53G>A)
c.321G>A (p.Glu107=)
c.562G>A (p.Ala188Thr)
n.992G>A
c.643G>A (p.Ala215Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1106599G>CCA402940484GPX4c.*27G>C (n.*27G>C)
c.601G>C (p.Ala201Pro)
c.*53G>C (n.*53G>C)
c.321G>C (p.Glu107Asp)
c.562G>C (p.Ala188Pro)
n.992G>C
c.643G>C (p.Ala215Pro)
19g.1106599G=CA2317520778GPX4c.*27G= (n.*27G=)
c.601G= (p.Ala201=)
c.*53G= (n.*53G=)
c.321G= (p.Glu107=)
c.562G= (p.Ala188=)
n.992G=
c.643G= (p.Ala215=)
19g.1106599G>TCA402940483GPX4c.*27G>T (n.*27G>T)
c.601G>T (p.Ala201Ser)
c.*53G>T (n.*53G>T)
c.321G>T (p.Glu107Asp)
c.562G>T (p.Ala188Ser)
n.992G>T
c.643G>T (p.Ala215Ser)
19g.1106600C>ACA9037545GPX4c.*28C>A (n.*28C>A)
c.602C>A (p.Ala201Asp)
c.*54C>A (n.*54C>A)
c.322C>A (p.Pro108Thr)
c.563C>A (p.Ala188Asp)
n.993C>A
c.644C>A (p.Ala215Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1106600C=CA2317520779GPX4c.*28C= (n.*28C=)
c.602C= (p.Ala201=)
c.*54C= (n.*54C=)
c.322C= (p.Pro108=)
c.563C= (p.Ala188=)
n.993C=
c.644C= (p.Ala215=)
19g.1106600C>GCA402940485GPX4c.*28C>G (n.*28C>G)
c.602C>G (p.Ala201Gly)
c.*54C>G (n.*54C>G)
c.322C>G (p.Pro108Ala)
c.563C>G (p.Ala188Gly)
n.993C>G
c.644C>G (p.Ala215Gly)
19g.1106600C>TCA303995364GPX4c.*28C>T (n.*28C>T)
c.602C>T (p.Ala201Val)
c.*54C>T (n.*54C>T)
c.322C>T (p.Pro108Ser)
c.563C>T (p.Ala188Val)
n.993C>T
c.644C>T (p.Ala215Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1106601C>ACA2588207887GPX4c.*29C>A (n.*29C>A)
c.603C>A (p.Ala201=)
c.*55C>A (n.*55C>A)
c.323C>A (p.Pro108His)
c.564C>A (p.Ala188=)
n.994C>A
c.645C>A (p.Ala215=)
gnomAD v4
19g.1106601C=CA2317520780GPX4c.*29C= (n.*29C=)
c.603C= (p.Ala201=)
c.*55C= (n.*55C=)
c.323C= (p.Pro108=)
c.564C= (p.Ala188=)
n.994C=
c.645C= (p.Ala215=)
19g.1106601C>GCA2588207888GPX4c.*29C>G (n.*29C>G)
c.603C>G (p.Ala201=)
c.*55C>G (n.*55C>G)
c.323C>G (p.Pro108Arg)
c.564C>G (p.Ala188=)
n.994C>G
c.645C>G (p.Ala215=)
gnomAD v4
19g.1106601C>TCA631298724GPX4c.*29C>T (n.*29C>T)
c.603C>T (p.Ala201=)
c.*55C>T (n.*55C>T)
c.323C>T (p.Pro108Leu)
c.564C>T (p.Ala188=)
n.994C>T
c.645C>T (p.Ala215=)
dbSNP gnomAD v2 gnomAD v4
19g.1106602C>ACA402940486GPX4c.*30C>A (n.*30C>A)
c.604C>A (p.Pro202Thr)
c.*56C>A (n.*56C>A)
c.324C>A (p.Pro108=)
c.565C>A (p.Pro189Thr)
n.995C>A
c.646C>A (p.Pro216Thr)
19g.1106602C>GCA402940487GPX4c.*30C>G (n.*30C>G)
c.604C>G (p.Pro202Ala)
c.*56C>G (n.*56C>G)
c.324C>G (p.Pro108=)
c.565C>G (p.Pro189Ala)
n.995C>G
c.646C>G (p.Pro216Ala)
19g.1106602C>TCA402940488GPX4c.*30C>T (n.*30C>T)
c.604C>T (p.Pro202Ser)
c.*56C>T (n.*56C>T)
c.324C>T (p.Pro108=)
c.565C>T (p.Pro189Ser)
n.995C>T
c.646C>T (p.Pro216Ser)
19g.1106603C>ACA402940489GPX4c.*31C>A (n.*31C>A)
c.605C>A (p.Pro202His)
c.*57C>A (n.*57C>A)
c.325C>A (p.Leu109Met)
c.566C>A (p.Pro189His)
n.996C>A
c.647C>A (p.Pro216His)
19g.1106603C=CA2317520781GPX4c.*31C= (n.*31C=)
c.605C= (p.Pro202=)
c.*57C= (n.*57C=)
c.325C= (p.Leu109=)
c.566C= (p.Pro189=)
n.996C=
c.647C= (p.Pro216=)
19g.1106603C>GCA402940490GPX4c.*31C>G (n.*31C>G)
c.605C>G (p.Pro202Arg)
c.*57C>G (n.*57C>G)
c.325C>G (p.Leu109Val)
c.566C>G (p.Pro189Arg)
n.996C>G
c.647C>G (p.Pro216Arg)
dbSNP gnomAD v2
19g.1106603C>TCA402940491GPX4c.*31C>T (n.*31C>T)
c.605C>T (p.Pro202Leu)
c.*57C>T (n.*57C>T)
c.325C>T (p.Leu109=)
c.566C>T (p.Pro189Leu)
n.996C>T
c.647C>T (p.Pro216Leu)
dbSNP gnomAD v2 gnomAD v4
19g.1106603_1106604dupCA2588207889GPX4c.*31_*32dup (n.*31_*32dup)
c.605_606dup (p.Ala203LeufsTer?)
c.*57_*58dup (n.*57_*58dup)
c.325_326dup (p.Pro110CysfsTer?)
c.566_567dup (p.Ala190LeufsTer?)
n.996_997dup
c.647_648dup (p.Ala217LeufsTer?)
gnomAD v4
19g.1106604T>CCA783225622GPX4c.*32T>C (n.*32T>C)
c.606T>C (p.Pro202=)
c.*58T>C (n.*58T>C)
c.326T>C (p.Leu109Pro)
c.567T>C (p.Pro189=)
n.997T>C
c.648T>C (p.Pro216=)
dbSNP
19g.1106604T=CA2317520782GPX4c.*32T= (n.*32T=)
c.606T= (p.Pro202=)
c.*58T= (n.*58T=)
c.326T= (p.Leu109=)
c.567T= (p.Pro189=)
n.997T=
c.648T= (p.Pro216=)
19g.1106605G>ACA402940492GPX4c.*33G>A (n.*33G>A)
c.607G>A (p.Ala203Thr)
c.*59G>A (n.*59G>A)
c.327G>A (p.Leu109=)
c.568G>A (p.Ala190Thr)
n.998G>A
c.649G>A (p.Ala217Thr)
gnomAD v4
19g.1106605G>CCA402940493GPX4c.*33G>C (n.*33G>C)
c.607G>C (p.Ala203Pro)
c.*59G>C (n.*59G>C)
c.327G>C (p.Leu109=)
c.568G>C (p.Ala190Pro)
n.998G>C
c.649G>C (p.Ala217Pro)
19g.1106605G>TCA402940494GPX4c.*33G>T (n.*33G>T)
c.607G>T (p.Ala203Ser)
c.*59G>T (n.*59G>T)
c.327G>T (p.Leu109=)
c.568G>T (p.Ala190Ser)
n.998G>T
c.649G>T (p.Ala217Ser)
gnomAD v4
19g.1106606C>ACA402940496GPX4c.*34C>A (n.*34C>A)
c.608C>A (p.Ala203Asp)
c.*60C>A (n.*60C>A)
c.328C>A (p.Pro110Thr)
c.569C>A (p.Ala190Asp)
n.999C>A
c.650C>A (p.Ala217Asp)
19g.1106606C=CA2317520783GPX4c.*34C= (n.*34C=)
c.608C= (p.Ala203=)
c.*60C= (n.*60C=)
c.328C= (p.Pro110=)
c.569C= (p.Ala190=)
n.999C=
c.650C= (p.Ala217=)
19g.1106606C>GCA9037546GPX4c.*34C>G (n.*34C>G)
c.608C>G (p.Ala203Gly)
c.*60C>G (n.*60C>G)
c.328C>G (p.Pro110Ala)
c.569C>G (p.Ala190Gly)
n.999C>G
c.650C>G (p.Ala217Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106606C>TCA402940495GPX4c.*34C>T (n.*34C>T)
c.608C>T (p.Ala203Val)
c.*60C>T (n.*60C>T)
c.328C>T (p.Pro110Ser)
c.569C>T (p.Ala190Val)
n.999C>T
c.650C>T (p.Ala217Val)
gnomAD v4
19g.1106607C>GCA2588207890GPX4c.*35C>G (n.*35C>G)
c.609C>G (p.Ala203=)
c.*61C>G (n.*61C>G)
c.329C>G (p.Pro110Arg)
c.570C>G (p.Ala190=)
n.1000C>G
c.651C>G (p.Ala217=)
gnomAD v4
19g.1106607C>TCA2588207891GPX4c.*35C>T (n.*35C>T)
c.609C>T (p.Ala203=)
c.*61C>T (n.*61C>T)
c.329C>T (p.Pro110Leu)
c.570C>T (p.Ala190=)
n.1000C>T
c.651C>T (p.Ala217=)
gnomAD v4
19g.1106608C>ACA402940497GPX4c.*36C>A (n.*36C>A)
c.610C>A (p.His204Asn)
c.*62C>A (n.*62C>A)
c.330C>A (p.Pro110=)
c.571C>A (p.His191Asn)
n.1001C>A
c.652C>A (p.His218Asn)
gnomAD v4
19g.1106608C>GCA402940498GPX4c.*36C>G (n.*36C>G)
c.610C>G (p.His204Asp)
c.*62C>G (n.*62C>G)
c.330C>G (p.Pro110=)
c.571C>G (p.His191Asp)
n.1001C>G
c.652C>G (p.His218Asp)
19g.1106608C>TCA402940499GPX4c.*36C>T (n.*36C>T)
c.610C>T (p.His204Tyr)
c.*62C>T (n.*62C>T)
c.330C>T (p.Pro110=)
c.571C>T (p.His191Tyr)
n.1001C>T
c.652C>T (p.His218Tyr)
gnomAD v4
19g.1106609A>CCA402940500GPX4c.*37A>C (n.*37A>C)
c.611A>C (p.His204Pro)
c.*63A>C (n.*63A>C)
c.331A>C (p.Thr111Pro)
c.572A>C (p.His191Pro)
n.1002A>C
c.653A>C (p.His218Pro)
19g.1106609A>GCA402940501GPX4c.*37A>G (n.*37A>G)
c.611A>G (p.His204Arg)
c.*63A>G (n.*63A>G)
c.331A>G (p.Thr111Ala)
c.572A>G (p.His191Arg)
n.1002A>G
c.653A>G (p.His218Arg)
gnomAD v4
19g.1106609A>TCA402940502GPX4c.*37A>T (n.*37A>T)
c.611A>T (p.His204Leu)
c.*63A>T (n.*63A>T)
c.331A>T (p.Thr111Ser)
c.572A>T (p.His191Leu)
n.1002A>T
c.653A>T (p.His218Leu)
gnomAD v4
19g.1106610C>ACA402940503GPX4c.*38C>A (n.*38C>A)
c.612C>A (p.His204Gln)
c.*64C>A (n.*64C>A)
c.332C>A (p.Thr111Lys)
c.573C>A (p.His191Gln)
n.1003C>A
c.654C>A (p.His218Gln)
gnomAD v4
19g.1106610C=CA2317520784GPX4c.*38C= (n.*38C=)
c.612C= (p.His204=)
c.*64C= (n.*64C=)
c.332C= (p.Thr111=)
c.573C= (p.His191=)
n.1003C=
c.654C= (p.His218=)
19g.1106610C>GCA402940504GPX4c.*38C>G (n.*38C>G)
c.612C>G (p.His204Gln)
c.*64C>G (n.*64C>G)
c.332C>G (p.Thr111Arg)
c.573C>G (p.His191Gln)
n.1003C>G
c.654C>G (p.His218Gln)
dbSNP
19g.1106610C>TCA9037547GPX4c.*38C>T (n.*38C>T)
c.612C>T (p.His204=)
c.*64C>T (n.*64C>T)
c.332C>T (p.Thr111Met)
c.573C>T (p.His191=)
n.1003C>T
c.654C>T (p.His218=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106611G>ACA9037548GPX4c.*39G>A (n.*39G>A)
c.613G>A (p.Ala205Thr)
c.*65G>A (n.*65G>A)
c.333G>A (p.Thr111=)
c.574G>A (p.Ala192Thr)
n.1004G>A
c.655G>A (p.Ala219Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106611G>CCA402940505GPX4c.*39G>C (n.*39G>C)
c.613G>C (p.Ala205Pro)
c.*65G>C (n.*65G>C)
c.333G>C (p.Thr111=)
c.574G>C (p.Ala192Pro)
n.1004G>C
c.655G>C (p.Ala219Pro)
dbSNP
19g.1106611G=CA2317520785GPX4c.*39G= (n.*39G=)
c.613G= (p.Ala205=)
c.*65G= (n.*65G=)
c.333G= (p.Thr111=)
c.574G= (p.Ala192=)
n.1004G=
c.655G= (p.Ala219=)
19g.1106611G>TCA402940506GPX4c.*39G>T (n.*39G>T)
c.613G>T (p.Ala205Ser)
c.*65G>T (n.*65G>T)
c.333G>T (p.Thr111=)
c.574G>T (p.Ala192Ser)
n.1004G>T
c.655G>T (p.Ala219Ser)
19g.1106611_1106612insGGCA2513266960GPX4c.*39_*40insGG (n.*39_*40insGG)
c.613_614insGG (p.Ala205GlyfsTer?)
c.*65_*66insGG (n.*65_*66insGG)
c.333_334insGG (p.Pro112GlyfsTer?)
c.574_575insGG (p.Ala192GlyfsTer?)
n.1004_1005insGG
c.655_656insGG (p.Ala219GlyfsTer?)
19g.1106613_1106725delCA2588207892GPX4c.*41_*153del (n.*41_*153del)
c.615_727del (p.Leu206TrpfsTer?)
c.*67_*179del (n.*67_*179del)
c.335_447del (p.Pro112LeufsTer14)
c.576_688del (p.Leu193TrpfsTer?)
n.1006_1118del
c.657_*85del (n.[c.657_*85del;Leu220TrpfsTer?])
gnomAD v4
19g.1106612C>ACA9037549GPX4c.*40C>A (n.*40C>A)
c.614C>A (p.Ala205Asp)
c.*66C>A (n.*66C>A)
c.334C>A (p.Pro112Thr)
c.575C>A (p.Ala192Asp)
n.1005C>A
c.656C>A (p.Ala219Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106612C=CA2317520786GPX4c.*40C= (n.*40C=)
c.614C= (p.Ala205=)
c.*66C= (n.*66C=)
c.334C= (p.Pro112=)
c.575C= (p.Ala192=)
n.1005C=
c.656C= (p.Ala219=)
19g.1106612C>GCA9037550GPX4c.*40C>G (n.*40C>G)
c.614C>G (p.Ala205Gly)
c.*66C>G (n.*66C>G)
c.334C>G (p.Pro112Ala)
c.575C>G (p.Ala192Gly)
n.1005C>G
c.656C>G (p.Ala219Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1106612C>TCA303995395GPX4c.*40C>T (n.*40C>T)
c.614C>T (p.Ala205Val)
c.*66C>T (n.*66C>T)
c.334C>T (p.Pro112Ser)
c.575C>T (p.Ala192Val)
n.1005C>T
c.656C>T (p.Ala219Val)
dbSNP gnomAD v2 gnomAD v4
19g.1106613C>ACA2588207893GPX4c.*41C>A (n.*41C>A)
c.615C>A (p.Ala205=)
c.*67C>A (n.*67C>A)
c.335C>A (p.Pro112His)
c.576C>A (p.Ala192=)
n.1006C>A
c.657C>A (p.Ala219=)
gnomAD v4
19g.1106613C>GCA2588207894GPX4c.*41C>G (n.*41C>G)
c.615C>G (p.Ala205=)
c.*67C>G (n.*67C>G)
c.335C>G (p.Pro112Arg)
c.576C>G (p.Ala192=)
n.1006C>G
c.657C>G (p.Ala219=)
gnomAD v4
19g.1106613C>TCA2576545182GPX4c.*41C>T (n.*41C>T)
c.615C>T (p.Ala205=)
c.*67C>T (n.*67C>T)
c.335C>T (p.Pro112Leu)
c.576C>T (p.Ala192=)
n.1006C>T
c.657C>T (p.Ala219=)
gnomAD v4
19g.1106614C>ACA402940507GPX4c.*42C>A (n.*42C>A)
c.616C>A (p.Leu206Ile)
c.*68C>A (n.*68C>A)
c.336C>A (p.Pro112=)
c.577C>A (p.Leu193Ile)
n.1007C>A
c.658C>A (p.Leu220Ile)
dbSNP
19g.1106614C=CA2317520787GPX4c.*42C= (n.*42C=)
c.616C= (p.Leu206=)
c.*68C= (n.*68C=)
c.336C= (p.Pro112=)
c.577C= (p.Leu193=)
n.1007C=
c.658C= (p.Leu220=)
19g.1106614C>GCA9037551GPX4c.*42C>G (n.*42C>G)
c.616C>G (p.Leu206Val)
c.*68C>G (n.*68C>G)
c.336C>G (p.Pro112=)
c.577C>G (p.Leu193Val)
n.1007C>G
c.658C>G (p.Leu220Val)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1106614C>TCA402940508GPX4c.*42C>T (n.*42C>T)
c.616C>T (p.Leu206Phe)
c.*68C>T (n.*68C>T)
c.336C>T (p.Pro112=)
c.577C>T (p.Leu193Phe)
n.1007C>T
c.658C>T (p.Leu220Phe)
19g.1106615T>ACA402940509GPX4c.*43T>A (n.*43T>A)
c.617T>A (p.Leu206His)
c.*69T>A (n.*69T>A)
c.337T>A (p.Leu113Met)
c.578T>A (p.Leu193His)
n.1008T>A
c.659T>A (p.Leu220His)
19g.1106615T>CCA402940510GPX4c.*43T>C (n.*43T>C)
c.617T>C (p.Leu206Pro)
c.*69T>C (n.*69T>C)
c.337T>C (p.Leu113=)
c.578T>C (p.Leu193Pro)
n.1008T>C
c.659T>C (p.Leu220Pro)
dbSNP
19g.1106615T>GCA402940511GPX4c.*43T>G (n.*43T>G)
c.617T>G (p.Leu206Arg)
c.*69T>G (n.*69T>G)
c.337T>G (p.Leu113Val)
c.578T>G (p.Leu193Arg)
n.1008T>G
c.659T>G (p.Leu220Arg)
19g.1106615T=CA2317520788GPX4c.*43T= (n.*43T=)
c.617T= (p.Leu206=)
c.*69T= (n.*69T=)
c.337T= (p.Leu113=)
c.578T= (p.Leu193=)
n.1008T=
c.659T= (p.Leu220=)
19g.1106615_1106616insCGCA2588207895GPX4c.*43_*44insCG (n.*43_*44insCG)
c.617_618insCG (p.Gly207ValfsTer?)
c.*69_*70insCG (n.*69_*70insCG)
c.337_338insCG (p.Leu113SerfsTer?)
c.578_579insCG (p.Gly194ValfsTer?)
n.1008_1009insCG
c.659_660insCG (p.Gly221ValfsTer?)
gnomAD v4
19g.1106616T>ACA9037553GPX4c.*44T>A (n.*44T>A)
c.618T>A (p.Leu206=)
c.*70T>A (n.*70T>A)
c.338T>A (p.Leu113Ter)
c.579T>A (p.Leu193=)
n.1009T>A
c.660T>A (p.Leu220=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1106616T>CCA9037552GPX4c.*44T>C (n.*44T>C)
c.618T>C (p.Leu206=)
c.*70T>C (n.*70T>C)
c.338T>C (p.Leu113Ser)
c.579T>C (p.Leu193=)
n.1009T>C
c.660T>C (p.Leu220=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106616T>GCA2580608515GPX4c.*44T>G (n.*44T>G)
c.618T>G (p.Leu206=)
c.*70T>G (n.*70T>G)
c.338T>G (p.Leu113Trp)
c.579T>G (p.Leu193=)
n.1009T>G
c.660T>G (p.Leu220=)
gnomAD v4
19g.1106616T=CA2317520789GPX4c.*44T= (n.*44T=)
c.618T= (p.Leu206=)
c.*70T= (n.*70T=)
c.338T= (p.Leu113=)
c.579T= (p.Leu193=)
n.1009T=
c.660T= (p.Leu220=)
19g.1106616_1106617delCA2576545183GPX4c.*44_*45del (n.*44_*45del)
c.618_619del (p.Gly207SerfsTer?)
c.*70_*71del (n.*70_*71del)
c.338_339del (p.Leu113Ter)
c.579_580del (p.Gly194SerfsTer?)
n.1009_1010del
c.660_661del (p.Gly221SerfsTer?)
19g.1106616_1106617insCCA2588207896GPX4c.*44_*45insC (n.*44_*45insC)
c.618_619insC (p.Gly207ArgfsTer?)
c.*70_*71insC (n.*70_*71insC)
c.338_339insC (p.Leu113PhefsTer9)
c.579_580insC (p.Gly194ArgfsTer?)
n.1009_1010insC
c.660_661insC (p.Gly221ArgfsTer?)
gnomAD v4
19g.1106617G>ACA9037554GPX4c.*45G>A (n.*45G>A)
c.619G>A (p.Gly207Arg)
c.*71G>A (n.*71G>A)
c.339G>A (p.Leu113=)
c.580G>A (p.Gly194Arg)
n.1010G>A
c.661G>A (p.Gly221Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106617G>CCA9037555GPX4c.*45G>C (n.*45G>C)
c.619G>C (p.Gly207Arg)
c.*71G>C (n.*71G>C)
c.339G>C (p.Leu113Phe)
c.580G>C (p.Gly194Arg)
n.1010G>C
c.661G>C (p.Gly221Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1106617G=CA2317520790GPX4c.*45G= (n.*45G=)
c.619G= (p.Gly207=)
c.*71G= (n.*71G=)
c.339G= (p.Leu113=)
c.580G= (p.Gly194=)
n.1010G=
c.661G= (p.Gly221=)
19g.1106617G>TCA402940512GPX4c.*45G>T (n.*45G>T)
c.619G>T (p.Gly207Ter)
c.*71G>T (n.*71G>T)
c.339G>T (p.Leu113Phe)
c.580G>T (p.Gly194Ter)
n.1010G>T
c.661G>T (p.Gly221Ter)
19g.1106618G>ACA402940513GPX4c.*46G>A (n.*46G>A)
c.620G>A (p.Gly207Glu)
c.*72G>A (n.*72G>A)
c.340G>A (p.Glu114Lys)
c.581G>A (p.Gly194Glu)
n.1011G>A
c.662G>A (p.Gly221Glu)
19g.1106618G>CCA402940514GPX4c.*46G>C (n.*46G>C)
c.620G>C (p.Gly207Ala)
c.*72G>C (n.*72G>C)
c.340G>C (p.Glu114Gln)
c.581G>C (p.Gly194Ala)
n.1011G>C
c.662G>C (p.Gly221Ala)
19g.1106618G>TCA402940515GPX4c.*46G>T (n.*46G>T)
c.620G>T (p.Gly207Val)
c.*72G>T (n.*72G>T)
c.340G>T (p.Glu114Ter)
c.581G>T (p.Gly194Val)
n.1011G>T
c.662G>T (p.Gly221Val)
gnomAD v4
19g.1106619A>GCA2576545184GPX4c.*47A>G (n.*47A>G)
c.621A>G (p.Gly207=)
c.*73A>G (n.*73A>G)
c.341A>G (p.Glu114Gly)
c.582A>G (p.Gly194=)
n.1012A>G
c.663A>G (p.Gly221=)
19g.1106620G>ACA9037556GPX4c.*48G>A (n.*48G>A)
c.622G>A (p.Ala208Thr)
c.*74G>A (n.*74G>A)
c.342G>A (p.Glu114=)
c.583G>A (p.Ala195Thr)
n.1013G>A
c.664G>A (p.Ala222Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.1106620G>CCA402940517GPX4c.*48G>C (n.*48G>C)
c.622G>C (p.Ala208Pro)
c.*74G>C (n.*74G>C)
c.342G>C (p.Glu114Asp)
c.583G>C (p.Ala195Pro)
n.1013G>C
c.664G>C (p.Ala222Pro)
19g.1106620G=CA2317520791GPX4c.*48G= (n.*48G=)
c.622G= (p.Ala208=)
c.*74G= (n.*74G=)
c.342G= (p.Glu114=)
c.583G= (p.Ala195=)
n.1013G=
c.664G= (p.Ala222=)
19g.1106620G>TCA402940516GPX4c.*48G>T (n.*48G>T)
c.622G>T (p.Ala208Ser)
c.*74G>T (n.*74G>T)
c.342G>T (p.Glu114Asp)
c.583G>T (p.Ala195Ser)
n.1013G>T
c.664G>T (p.Ala222Ser)
19g.1106621C>ACA402940518GPX4c.*49C>A (n.*49C>A)
c.623C>A (p.Ala208Asp)
c.*75C>A (n.*75C>A)
c.343C>A (p.Pro115Thr)
c.584C>A (p.Ala195Asp)
n.1014C>A
c.665C>A (p.Ala222Asp)
19g.1106621C=CA2317520792GPX4c.*49C= (n.*49C=)
c.623C= (p.Ala208=)
c.*75C= (n.*75C=)
c.343C= (p.Pro115=)
c.584C= (p.Ala195=)
n.1014C=
c.665C= (p.Ala222=)
19g.1106621C>GCA402940519GPX4c.*49C>G (n.*49C>G)
c.623C>G (p.Ala208Gly)
c.*75C>G (n.*75C>G)
c.343C>G (p.Pro115Ala)
c.584C>G (p.Ala195Gly)
n.1014C>G
c.665C>G (p.Ala222Gly)
19g.1106621C>TCA402940520GPX4c.*49C>T (n.*49C>T)
c.623C>T (p.Ala208Val)
c.*75C>T (n.*75C>T)
c.343C>T (p.Pro115Ser)
c.584C>T (p.Ala195Val)
n.1014C>T
c.665C>T (p.Ala222Val)
dbSNP gnomAD v4
19g.1106623T>ACA402940521GPX4c.*51T>A (n.*51T>A)
c.625T>A (p.Phe209Ile)
c.*77T>A (n.*77T>A)
c.345T>A (p.Pro115=)
c.586T>A (p.Phe196Ile)
n.1016T>A
c.667T>A (p.Phe223Ile)
19g.1106623T>CCA402940522GPX4c.*51T>C (n.*51T>C)
c.625T>C (p.Phe209Leu)
c.*77T>C (n.*77T>C)
c.345T>C (p.Pro115=)
c.586T>C (p.Phe196Leu)
n.1016T>C
c.667T>C (p.Phe223Leu)
dbSNP gnomAD v3 gnomAD v4
19g.1106623T>GCA402940523GPX4c.*51T>G (n.*51T>G)
c.625T>G (p.Phe209Val)
c.*77T>G (n.*77T>G)
c.345T>G (p.Pro115=)
c.586T>G (p.Phe196Val)
n.1016T>G
c.667T>G (p.Phe223Val)
19g.1106623T=CA2317520793GPX4c.*51T= (n.*51T=)
c.625T= (p.Phe209=)
c.*77T= (n.*77T=)
c.345T= (p.Pro115=)
c.586T= (p.Phe196=)
n.1016T=
c.667T= (p.Phe223=)
19g.1106624delCA2576545185GPX4c.*52del (n.*52del)
c.626del (p.Phe209SerfsTer?)
c.*78del (n.*78del)
c.346del (p.Ser116ProfsTer?)
c.587del (p.Phe196SerfsTer?)
n.1017del
c.668del (p.Phe223SerfsTer?)
gnomAD v4

Number of alleles fetched