Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.1106462_1106541del | CA2813238558 | GPX4 | c.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 | |
19 | g.1106517_1106524del | CA2588207867 | GPX4 | c.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 |
19 | g.1106525T>C | CA2588207870 | GPX4 | c.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 |
19 | g.1106526T>C | CA2317520725 | GPX4 | c.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 |
19 | g.1106526T= | CA2317520724 | GPX4 | c.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=) | |
19 | g.1106527_1106528insGCCAGGGGCC | CA2588207871 | GPX4 | c.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 |
19 | g.1106528C= | CA2317520726 | GPX4 | c.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=) | |
19 | g.1106528C>T | CA2317520727 | GPX4 | c.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 |
19 | g.1106529dup | CA2840851274 | GPX4 | c.673-11dup (n.673-11dup) c.542-11dup (n.542-11dup) c.556-11dup (n.556-11dup) c.178-11dup (n.178-11dup) c.562-11dup (n.562-11dup) c.537-11dup (n.537-11dup) c.295-44dup (n.295-44dup) c.442-11dup (n.442-11dup) c.503-11dup (n.503-11dup) n.933-11dup c.481-11dup (n.481-11dup) c.559-11dup (n.559-11dup) c.670-11dup (n.670-11dup) c.584-11dup (n.584-11dup) | |
19 | g.1106529C= | CA2317520729 | GPX4 | c.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=) | |
19 | g.1106529C>G | CA2317520728 | GPX4 | c.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 |
19 | g.1106529C>T | CA303995193 | GPX4 | c.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 |
19 | g.1106531C>A | CA2588207872 | GPX4 | c.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 |
19 | g.1106531C>T | CA2588207873 | GPX4 | c.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 |
19 | g.1106532C>A | CA2588207874 | GPX4 | c.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 |
19 | g.1106532C>T | CA2588207875 | GPX4 | c.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 |
19 | g.1106532_1106533insATGT | CA2588207876 | GPX4 | c.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 |
19 | g.1106533C>A | CA2588207877 | GPX4 | c.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 |
19 | g.1106533C= | CA2317520730 | GPX4 | c.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=) | |
19 | g.1106533C>G | CA9037517 | GPX4 | c.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 |
19 | g.1106533C>T | CA631298699 | GPX4 | c.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 |
19 | g.1106533_1106534insAG | CA2588207878 | GPX4 | c.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 |
19 | g.1106534C= | CA2317520731 | GPX4 | c.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=) | |
19 | g.1106534C>G | CA9037518 | GPX4 | c.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 |
19 | g.1106534C>T | CA631298701 | GPX4 | c.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 |
19 | g.1106535G>A | CA9037519 | GPX4 | c.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 |
19 | g.1106535G>C | CA631298703 | GPX4 | c.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 |
19 | g.1106535G= | CA2317520732 | GPX4 | c.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=) | |
19 | g.1106535G>T | CA2588207880 | GPX4 | c.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 |
19 | g.1106535_1106540dup | CA2588207879 | GPX4 | c.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 |
19 | g.1106536A= | CA2317520733 | GPX4 | c.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=) | |
19 | g.1106536A>G | CA631298705 | GPX4 | c.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 |
19 | g.1106537C= | CA2317520734 | GPX4 | c.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=) | |
19 | g.1106537C>G | CA631298706 | GPX4 | c.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 |
19 | g.1106537C>T | CA2576545179 | GPX4 | c.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) | |
19 | g.1106538A= | CA2317520735 | GPX4 | c.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=) | |
19 | g.1106538A>C | CA402940266 | GPX4 | c.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) | |
19 | g.1106538A>G | CA402940268 | GPX4 | c.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) | |
19 | g.1106538A>T | CA303995217 | GPX4 | c.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 |
19 | g.1106539G>A | CA9037520 | GPX4 | c.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 |
19 | g.1106539G>C | CA402940274 | GPX4 | c.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) | |
19 | g.1106539G= | CA2317520736 | GPX4 | c.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=) | |
19 | g.1106539G>T | CA402940271 | GPX4 | c.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) | |
19 | g.1106540G>A | CA402940285 | GPX4 | c.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 |
19 | g.1106540G>C | CA402940278 | GPX4 | c.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 |
19 | g.1106540G= | CA2317520737 | GPX4 | c.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=) | |
19 | g.1106540G>T | CA402940288 | GPX4 | c.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) | |
19 | g.1106541T>A | CA402940291 | GPX4 | c.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=) | |
19 | g.1106541T>C | CA402940297 | GPX4 | c.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=) | |
19 | g.1106541T>G | CA402940300 | GPX4 | c.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=) | |
19 | g.1106541T= | CA402940294 | GPX4 | c.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=) | |
19 | g.1106542G>A | CA9037521 | GPX4 | c.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 |
19 | g.1106542G>C | CA402940304 | GPX4 | c.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) | |
19 | g.1106542G= | CA402940307 | GPX4 | c.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=) | |
19 | g.1106542G>T | CA9037522 | GPX4 | c.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 |
19 | g.1106543A= | CA402940314 | GPX4 | c.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=) | |
19 | g.1106543A>C | CA402940315 | GPX4 | c.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) | |
19 | g.1106543A>G | CA402940317 | GPX4 | c.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) | |
19 | g.1106543A>T | CA402940320 | GPX4 | c.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 |
19 | g.1106544T>A | CA402940323 | GPX4 | c.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) | |
19 | g.1106544T>C | CA402940325 | GPX4 | c.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 |
19 | g.1106544T>G | CA402940328 | GPX4 | c.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) | |
19 | g.1106544T= | CA2317520738 | GPX4 | c.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=) | |
19 | g.1106545A>C | CA402940339 | GPX4 | c.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=) | |
19 | g.1106545A>G | CA402940336 | GPX4 | c.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 |
19 | g.1106545A>T | CA402940333 | GPX4 | c.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) | |
19 | g.1106545dup | CA631298710 | GPX4 | c.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 |
19 | g.1106546G>A | CA402940342 | GPX4 | c.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) | |
19 | g.1106546G>C | CA303995239 | GPX4 | c.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 |
19 | g.1106546G= | CA2317520739 | GPX4 | c.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=) | |
19 | g.1106546G>T | CA402940345 | GPX4 | c.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) | |
19 | g.1106547A>C | CA402940347 | GPX4 | c.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) | |
19 | g.1106547A>G | CA402940348 | GPX4 | c.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=) | |
19 | g.1106547A>T | CA402940354 | GPX4 | c.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) | |
19 | g.1106548G>A | CA9037523 | GPX4 | c.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 |
19 | g.1106548G>C | CA402940356 | GPX4 | c.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) | |
19 | g.1106548G= | CA2317520740 | GPX4 | c.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=) | |
19 | g.1106548G>T | CA402940360 | GPX4 | c.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) | |
19 | g.1106549A= | CA2317520741 | GPX4 | c.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=) | |
19 | g.1106549A>C | CA402940362 | GPX4 | c.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) | |
19 | g.1106549A>G | CA9037524 | GPX4 | c.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 |
19 | g.1106549A>T | CA402940366 | GPX4 | c.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) | |
19 | g.1106550A>C | CA402940372 | GPX4 | c.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) | |
19 | g.1106550A>G | CA402940375 | GPX4 | c.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=) | |
19 | g.1106550A>T | CA402940369 | GPX4 | c.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) | |
19 | g.1106551G>A | CA402940379 | GPX4 | c.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 |
19 | g.1106551G>C | CA402940380 | GPX4 | c.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) | |
19 | g.1106551G= | CA2317520742 | GPX4 | c.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=) | |
19 | g.1106551G>T | CA402940381 | GPX4 | c.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) | |
19 | g.1106552G>A | CA9037525 | GPX4 | c.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 |
19 | g.1106552G>C | CA402940382 | GPX4 | c.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) | |
19 | g.1106552G= | CA2317520743 | GPX4 | c.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=) | |
19 | g.1106552G>T | CA402940383 | GPX4 | c.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) | |
19 | g.1106553A= | CA2317520744 | GPX4 | c.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=) | |
19 | g.1106553A>C | CA402940384 | GPX4 | c.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 |
19 | g.1106553A>G | CA402940385 | GPX4 | c.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=) | |
19 | g.1106553A>T | CA402940386 | GPX4 | c.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=) | |
19 | g.1106554C>A | CA402940387 | GPX4 | c.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) | |
19 | g.1106554C>G | CA402940388 | GPX4 | c.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) | |
19 | g.1106554C>T | CA402940389 | GPX4 | c.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 |
19 | g.1106555C>A | CA402940392 | GPX4 | c.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) | |
19 | g.1106555C= | CA2317520745 | GPX4 | c.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=) | |
19 | g.1106555C>G | CA402940390 | GPX4 | c.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) | |
19 | g.1106555C>T | CA402940391 | GPX4 | c.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 |
19 | g.1106556T>A | CA402940393 | GPX4 | c.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=) | |
19 | g.1106556T>C | CA402940394 | GPX4 | c.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 |
19 | g.1106556T>G | CA402940395 | GPX4 | c.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=) | |
19 | g.1106556T= | CA2317520746 | GPX4 | c.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=) | |
19 | g.1106557G>A | CA9037526 | GPX4 | c.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 |
19 | g.1106557G>C | CA402940396 | GPX4 | c.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) | |
19 | g.1106557G= | CA2317520747 | GPX4 | c.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=) | |
19 | g.1106557G>T | CA402940397 | GPX4 | c.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 |
19 | g.1106558C>A | CA402940398 | GPX4 | c.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) | |
19 | g.1106558C= | CA2317520748 | GPX4 | c.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=) | |
19 | g.1106558C>G | CA402940399 | GPX4 | c.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) | |
19 | g.1106558C>T | CA9037527 | GPX4 | c.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) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106559C>A | CA402940400 | GPX4 | c.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 |
19 | g.1106559C= | CA2317520749 | GPX4 | c.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=) | |
19 | g.1106559C>G | CA402940401 | GPX4 | c.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=) | |
19 | g.1106559C>T | CA9037528 | GPX4 | c.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 |
19 | g.1106560C>A | CA402940404 | GPX4 | c.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) | |
19 | g.1106560C>G | CA402940403 | GPX4 | c.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) | |
19 | g.1106560C>T | CA402940402 | GPX4 | c.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) | |
19 | g.1106561C>A | CA402940405 | GPX4 | c.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) | |
19 | g.1106561C>G | CA402940407 | GPX4 | c.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) | |
19 | g.1106561C>T | CA402940406 | GPX4 | c.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) | |
19 | g.1106562del | CA2588207881 | GPX4 | c.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 |
19 | g.1106562A= | CA2317520750 | GPX4 | c.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=) | |
19 | g.1106562A>C | CA402940408 | GPX4 | c.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=) | |
19 | g.1106562A>G | CA402940409 | GPX4 | c.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 |
19 | g.1106562A>T | CA402940410 | GPX4 | c.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=) | |
19 | g.1106563C>A | CA402940411 | GPX4 | c.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) | |
19 | g.1106563C= | CA2317520751 | GPX4 | c.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=) | |
19 | g.1106563C>G | CA402940412 | GPX4 | c.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) | |
19 | g.1106563C>T | CA504891053 | GPX4 | c.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 |
19 | g.1106564T>A | CA402940413 | GPX4 | c.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) | |
19 | g.1106564T>C | CA9037529 | GPX4 | c.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 |
19 | g.1106564T>G | CA402940414 | GPX4 | c.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) | |
19 | g.1106564T= | CA2317520752 | GPX4 | c.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=) | |
19 | g.1106565A= | CA2317520753 | GPX4 | c.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=) | |
19 | g.1106565A>C | CA402940415 | GPX4 | c.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=) | |
19 | g.1106565A>G | CA402940416 | GPX4 | c.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 |
19 | g.1106565A>T | CA402940417 | GPX4 | c.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=) | |
19 | g.1106566T>A | CA402940420 | GPX4 | c.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) | |
19 | g.1106566T>C | CA402940419 | GPX4 | c.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 |
19 | g.1106566T>G | CA402940418 | GPX4 | c.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) | |
19 | g.1106566T= | CA2317520754 | GPX4 | c.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=) | |
19 | g.1106567_1106568del | CA2576545180 | GPX4 | c.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?) | |
19 | g.1106567T>A | CA402940421 | GPX4 | c.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) | |
19 | g.1106567T>C | CA402940422 | GPX4 | c.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) | |
19 | g.1106567T>G | CA402940423 | GPX4 | c.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 |
19 | g.1106568T>A | CA402940424 | GPX4 | c.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) | |
19 | g.1106568T>C | CA402940425 | GPX4 | c.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=) | |
19 | g.1106568T>G | CA402940426 | GPX4 | c.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) | |
19 | g.1106569C>A | CA402940427 | GPX4 | c.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) | |
19 | g.1106569C= | CA2317520755 | GPX4 | c.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=) | |
19 | g.1106569C>G | CA402940428 | GPX4 | c.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 |
19 | g.1106569C>T | CA504891054 | GPX4 | c.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 |
19 | g.1106570T>A | CA402940429 | GPX4 | c.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) | |
19 | g.1106570T>C | CA402940430 | GPX4 | c.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 |
19 | g.1106570T>G | CA402940431 | GPX4 | c.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 |
19 | g.1106571A>C | CA402940434 | GPX4 | c.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=) | |
19 | g.1106571A>G | CA402940433 | GPX4 | c.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=) | |
19 | g.1106571A>T | CA402940432 | GPX4 | c.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=) | |
19 | g.1106572G>A | CA402940435 | GPX4 | c.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 |
19 | g.1106572G>C | CA9037530 | GPX4 | c.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 |
19 | g.1106572G= | CA2317520756 | GPX4 | c.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=) | |
19 | g.1106572G>T | CA402940436 | GPX4 | c.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) | |
19 | g.1106573C>A | CA9037531 | GPX4 | c.*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 |
19 | g.1106573C= | CA2317520757 | GPX4 | c.*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=) | |
19 | g.1106573C>G | CA402940437 | GPX4 | c.*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) | |
19 | g.1106573C>T | CA402940438 | GPX4 | c.*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) | |
19 | g.1106575C>A | CA402940439 | GPX4 | c.*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) | |
19 | g.1106575C= | CA2317520758 | GPX4 | c.*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=) | |
19 | g.1106575C>G | CA402940440 | GPX4 | c.*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 |
19 | g.1106575C>T | CA402940441 | GPX4 | c.*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) | |
19 | g.1106576C>A | CA402940442 | GPX4 | c.*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) | |
19 | g.1106576C= | CA2317520759 | GPX4 | c.*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=) | |
19 | g.1106576C>G | CA402940443 | GPX4 | c.*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) | |
19 | g.1106576C>T | CA402940444 | GPX4 | c.*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 |
19 | g.1106577A= | CA2317520760 | GPX4 | c.*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=) | |
19 | g.1106577A>C | CA9037532 | GPX4 | c.*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 |
19 | g.1106577A>G | CA914289393 | GPX4 | c.*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 |
19 | g.1106577A>T | CA2588207882 | GPX4 | c.*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 |
19 | g.1106578C>A | CA402940446 | GPX4 | c.*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) | |
19 | g.1106578C= | CA2317520761 | GPX4 | c.*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=) | |
19 | g.1106578C>G | CA9037533 | GPX4 | c.*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 |
19 | g.1106578C>T | CA402940445 | GPX4 | c.*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) | |
19 | g.1106579A>C | CA402940447 | GPX4 | c.*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) | |
19 | g.1106579A>G | CA402940448 | GPX4 | c.*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) | |
19 | g.1106579A>T | CA402940449 | GPX4 | c.*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) | |
19 | g.1106580A= | CA2317520762 | GPX4 | c.*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=) | |
19 | g.1106580A>C | CA402940450 | GPX4 | c.*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) | |
19 | g.1106580A>G | CA9037534 | GPX4 | c.*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 |
19 | g.1106580A>T | CA402940451 | GPX4 | c.*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) | |
19 | g.1106581G>A | CA9037535 | GPX4 | c.*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 |
19 | g.1106581G>C | CA402940452 | GPX4 | c.*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) | |
19 | g.1106581G= | CA2317520763 | GPX4 | c.*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=) | |
19 | g.1106581G>T | CA402940453 | GPX4 | c.*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) | |
19 | g.1106582T>A | CA402940454 | GPX4 | c.*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) | |
19 | g.1106582T>C | CA402940455 | GPX4 | c.*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 |
19 | g.1106582T>G | CA402940456 | GPX4 | c.*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) | |
19 | g.1106582T= | CA2317520764 | GPX4 | c.*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=) | |
19 | g.1106583G>A | CA2576545181 | GPX4 | c.*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 |
19 | g.1106583G>T | CA2588207883 | GPX4 | c.*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 |
19 | g.1106584T>A | CA402940458 | GPX4 | c.*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 |
19 | g.1106584T>C | CA402940459 | GPX4 | c.*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) | |
19 | g.1106584T>G | CA402940457 | GPX4 | c.*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) | |
19 | g.1106585G>A | CA402940462 | GPX4 | c.*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 |
19 | g.1106585G>C | CA402940460 | GPX4 | c.*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) | |
19 | g.1106585G= | CA2317520765 | GPX4 | c.*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=) | |
19 | g.1106585G>T | CA402940461 | GPX4 | c.*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) | |
19 | g.1106585_1106602dup | CA2588207884 | GPX4 | c.*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 |
19 | g.1106586T>A | CA402940463 | GPX4 | c.*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) | |
19 | g.1106586T>C | CA9037536 | GPX4 | c.*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 |
19 | g.1106586T>G | CA402940464 | GPX4 | c.*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 |
19 | g.1106586T= | CA2317520766 | GPX4 | c.*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=) | |
19 | g.1106587G>A | CA402940467 | GPX4 | c.*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 |
19 | g.1106587G>C | CA402940466 | GPX4 | c.*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) | |
19 | g.1106587G= | CA2317520767 | GPX4 | c.*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=) | |
19 | g.1106587G>T | CA402940465 | GPX4 | c.*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) | |
19 | g.1106588G>A | CA402940468 | GPX4 | c.*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) | |
19 | g.1106588G>C | CA402940469 | GPX4 | c.*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) | |
19 | g.1106588G= | CA2317520768 | GPX4 | c.*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=) | |
19 | g.1106588G>T | CA402940470 | GPX4 | c.*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 |
19 | g.1106588_1106589delinsGC | CA2317520769 | GPX4 | c.*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=) | |
19 | g.1106589C= | CA2317520771 | GPX4 | c.*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=) | |
19 | g.1106589C>T | CA303995336 | GPX4 | c.*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 |
19 | g.1106592dup | CA2840851275 | GPX4 | c.*20dup (n.*20dup) c.594dup (p.Ala199ArgfsTer?) c.*46dup (n.*46dup) c.314dup (p.Pro106AlafsTer16) c.555dup (p.Ala186ArgfsTer?) n.985dup c.636dup (p.Ala213ArgfsTer?) | |
19 | g.1106592del | CA2317520770 | GPX4 | c.*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 |
19 | g.1106590C>A | CA402940471 | GPX4 | c.*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) | |
19 | g.1106590C>G | CA402940472 | GPX4 | c.*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) | |
19 | g.1106590C>T | CA402940473 | GPX4 | c.*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 |
19 | g.1106591C>A | CA402940475 | GPX4 | c.*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) | |
19 | g.1106591C= | CA2317520772 | GPX4 | c.*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=) | |
19 | g.1106591C>G | CA402940474 | GPX4 | c.*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) | |
19 | g.1106591C>T | CA9037537 | GPX4 | c.*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 |
19 | g.1106591_1106592insT | CA657239073 | GPX4 | c.*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 |
19 | g.1106592C= | CA2317520773 | GPX4 | c.*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=) | |
19 | g.1106592C>T | CA9037538 | GPX4 | c.*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 |
19 | g.1106592_1106593insT | CA657239075 | GPX4 | c.*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?) | |
19 | g.1106593G>A | CA9037539 | GPX4 | c.*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 |
19 | g.1106593G>C | CA402940476 | GPX4 | c.*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) | |
19 | g.1106593G= | CA2317520774 | GPX4 | c.*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=) | |
19 | g.1106593G>T | CA402940477 | GPX4 | c.*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 |
19 | g.1106594C>A | CA402940478 | GPX4 | c.*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) | |
19 | g.1106594C>G | CA402940479 | GPX4 | c.*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) | |
19 | g.1106594C>T | CA402940480 | GPX4 | c.*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) | |
19 | g.1106595C= | CA2317520775 | GPX4 | c.*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=) | |
19 | g.1106596C>A | CA2588207885 | GPX4 | c.*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 |
19 | g.1106596C= | CA2317520776 | GPX4 | c.*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=) | |
19 | g.1106596C>G | CA9037541 | GPX4 | c.*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 |
19 | g.1106596C>T | CA9037542 | GPX4 | c.*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 |
19 | g.1106597_1106612dup | CA9037540 | GPX4 | c.*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 |
19 | g.1106597G>A | CA9037543 | GPX4 | c.*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 |
19 | g.1106597G>C | CA402940481 | GPX4 | c.*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 |
19 | g.1106597G= | CA2317520777 | GPX4 | c.*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=) | |
19 | g.1106597G>T | CA402940482 | GPX4 | c.*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) | |
19 | g.1106598A>C | CA2588207886 | GPX4 | c.*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 |
19 | g.1106599G>A | CA9037544 | GPX4 | c.*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 |
19 | g.1106599G>C | CA402940484 | GPX4 | c.*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) | |
19 | g.1106599G= | CA2317520778 | GPX4 | c.*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=) | |
19 | g.1106599G>T | CA402940483 | GPX4 | c.*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) | |
19 | g.1106600C>A | CA9037545 | GPX4 | c.*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 |
19 | g.1106600C= | CA2317520779 | GPX4 | c.*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=) | |
19 | g.1106600C>G | CA402940485 | GPX4 | c.*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) | |
19 | g.1106600C>T | CA303995364 | GPX4 | c.*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 |
19 | g.1106601C>A | CA2588207887 | GPX4 | c.*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 |
19 | g.1106601C= | CA2317520780 | GPX4 | c.*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=) | |
19 | g.1106601C>G | CA2588207888 | GPX4 | c.*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 |
19 | g.1106601C>T | CA631298724 | GPX4 | c.*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 |
19 | g.1106602C>A | CA402940486 | GPX4 | c.*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) | |
19 | g.1106602C>G | CA402940487 | GPX4 | c.*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) | |
19 | g.1106602C>T | CA402940488 | GPX4 | c.*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) | |
19 | g.1106603C>A | CA402940489 | GPX4 | c.*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) | |
19 | g.1106603C= | CA2317520781 | GPX4 | c.*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=) | |
19 | g.1106603C>G | CA402940490 | GPX4 | c.*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 |
19 | g.1106603C>T | CA402940491 | GPX4 | c.*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 |
19 | g.1106603_1106604dup | CA2588207889 | GPX4 | c.*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 |
19 | g.1106604T>C | CA783225622 | GPX4 | c.*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 |
19 | g.1106604T= | CA2317520782 | GPX4 | c.*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=) | |
19 | g.1106605G>A | CA402940492 | GPX4 | c.*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 |
19 | g.1106605G>C | CA402940493 | GPX4 | c.*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) | |
19 | g.1106605G>T | CA402940494 | GPX4 | c.*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 |
19 | g.1106609_1106614dup | CA2839415484 | GPX4 | c.*37_*42dup (n.*37_*42dup) c.611_616dup (p.Ala205_Leu206insHisAla) c.*63_*68dup (n.*63_*68dup) c.331_336dup (p.Pro112_Leu113insThrPro) c.572_577dup (p.Ala192_Leu193insHisAla) n.1002_1007dup c.653_658dup (p.Ala219_Leu220insHisAla) | |
19 | g.1106606C>A | CA402940496 | GPX4 | c.*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) | |
19 | g.1106606C= | CA2317520783 | GPX4 | c.*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=) | |
19 | g.1106606C>G | CA9037546 | GPX4 | c.*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 |
19 | g.1106606C>T | CA402940495 | GPX4 | c.*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 |
19 | g.1106607C>G | CA2588207890 | GPX4 | c.*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 |
19 | g.1106607C>T | CA2588207891 | GPX4 | c.*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 |
19 | g.1106608C>A | CA402940497 | GPX4 | c.*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 |
19 | g.1106608C>G | CA402940498 | GPX4 | c.*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) | |
19 | g.1106608C>T | CA402940499 | GPX4 | c.*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 |
19 | g.1106609A>C | CA402940500 | GPX4 | c.*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) | |
19 | g.1106609A>G | CA402940501 | GPX4 | c.*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 |
19 | g.1106609A>T | CA402940502 | GPX4 | c.*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 |
19 | g.1106610C>A | CA402940503 | GPX4 | c.*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 |
19 | g.1106610C= | CA2317520784 | GPX4 | c.*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=) | |
19 | g.1106610C>G | CA402940504 | GPX4 | c.*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 |
19 | g.1106610C>T | CA9037547 | GPX4 | c.*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 |
19 | g.1106611G>A | CA9037548 | GPX4 | c.*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 |
19 | g.1106611G>C | CA402940505 | GPX4 | c.*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 |
19 | g.1106611G= | CA2317520785 | GPX4 | c.*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=) | |
19 | g.1106611G>T | CA402940506 | GPX4 | c.*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) | |
19 | g.1106611_1106612insGG | CA2513266960 | GPX4 | c.*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?) | |
19 | g.1106613_1106725del | CA2588207892 | GPX4 | c.*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 |
19 | g.1106612C>A | CA9037549 | GPX4 | c.*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 |
19 | g.1106612C= | CA2317520786 | GPX4 | c.*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=) | |
19 | g.1106612C>G | CA9037550 | GPX4 | c.*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 |
19 | g.1106612C>T | CA303995395 | GPX4 | c.*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 |
19 | g.1106613C>A | CA2588207893 | GPX4 | c.*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 |
19 | g.1106613C>G | CA2588207894 | GPX4 | c.*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 |
19 | g.1106613C>T | CA2576545182 | GPX4 | c.*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 |
19 | g.1106614C>A | CA402940507 | GPX4 | c.*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 |
19 | g.1106614C= | CA2317520787 | GPX4 | c.*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=) | |
19 | g.1106614C>G | CA9037551 | GPX4 | c.*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 |
19 | g.1106614C>T | CA402940508 | GPX4 | c.*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) | |
19 | g.1106615T>A | CA402940509 | GPX4 | c.*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) | |
19 | g.1106615T>C | CA402940510 | GPX4 | c.*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 |
19 | g.1106615T>G | CA402940511 | GPX4 | c.*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) | |
19 | g.1106615T= | CA2317520788 | GPX4 | c.*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=) | |
19 | g.1106615_1106616insCG | CA2588207895 | GPX4 | c.*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 |
19 | g.1106616T>A | CA9037553 | GPX4 | c.*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 |
19 | g.1106616T>C | CA9037552 | GPX4 | c.*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 |
19 | g.1106616T>G | CA2580608515 | GPX4 | c.*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 |
19 | g.1106616T= | CA2317520789 | GPX4 | c.*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=) | |
19 | g.1106616_1106617del | CA2576545183 | GPX4 | c.*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?) | |
19 | g.1106616_1106617insC | CA2588207896 | GPX4 | c.*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 |
19 | g.1106617G>A | CA9037554 | GPX4 | c.*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 |
19 | g.1106617G>C | CA9037555 | GPX4 | c.*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 |
19 | g.1106617G= | CA2317520790 | GPX4 | c.*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=) | |
19 | g.1106617G>T | CA402940512 | GPX4 | c.*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) | |
19 | g.1106618G>A | CA402940513 | GPX4 | c.*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) | |
19 | g.1106618G>C | CA402940514 | GPX4 | c.*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) | |
19 | g.1106618G>T | CA402940515 | GPX4 | c.*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 |
19 | g.1106619A>G | CA2576545184 | GPX4 | c.*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=) | |
19 | g.1106620G>A | CA9037556 | GPX4 | c.*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 |
19 | g.1106620G>C | CA402940517 | GPX4 | c.*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) | |
19 | g.1106620G= | CA2317520791 | GPX4 | c.*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=) | |
19 | g.1106620G>T | CA402940516 | GPX4 | c.*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) | |
19 | g.1106621C>A | CA402940518 | GPX4 | c.*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) | |
19 | g.1106621C= | CA2317520792 | GPX4 | c.*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=) | |
19 | g.1106621C>G | CA402940519 | GPX4 | c.*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) | |
19 | g.1106621C>T | CA402940520 | GPX4 | c.*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 |
19 | g.1106623T>A | CA402940521 | GPX4 | c.*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) | |
19 | g.1106623T>C | CA402940522 | GPX4 | c.*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 |
19 | g.1106623T>G | CA402940523 | GPX4 | c.*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) | |
19 | g.1106623T= | CA2317520793 | GPX4 | c.*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=) | |
19 | g.1106624del | CA2576545185 | GPX4 | c.*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 |
19 | g.1106624T>A | CA402940524 | GPX4 | c.*52T>A (n.*52T>A) c.626T>A (p.Phe209Tyr) c.*78T>A (n.*78T>A) c.346T>A (p.Ser116Thr) c.587T>A (p.Phe196Tyr) n.1017T>A c.668T>A (p.Phe223Tyr) | |
19 | g.1106624T>C | CA9037557 | GPX4 | c.*52T>C (n.*52T>C) c.626T>C (p.Phe209Ser) c.*78T>C (n.*78T>C) c.346T>C (p.Ser116Pro) c.587T>C (p.Phe196Ser) n.1017T>C c.668T>C (p.Phe223Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106624T>G | CA402940525 | GPX4 | c.*52T>G (n.*52T>G) c.626T>G (p.Phe209Cys) c.*78T>G (n.*78T>G) c.346T>G (p.Ser116Ala) c.587T>G (p.Phe196Cys) n.1017T>G c.668T>G (p.Phe223Cys) | |
19 | g.1106624T= | CA2317520794 | GPX4 | c.*52T= (n.*52T=) c.626T= (p.Phe209=) c.*78T= (n.*78T=) c.346T= (p.Ser116=) c.587T= (p.Phe196=) n.1017T= c.668T= (p.Phe223=) |