Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.1106357del | CA2317520603 | GPX4 | c.613-43del (n.613-43del) c.482-43del (n.482-43del) c.496-43del (n.496-43del) c.118-43del (n.118-43del) c.502-43del (n.502-43del) c.477-43del (n.477-43del) c.235-43del (n.235-43del) c.382-43del (n.382-43del) c.421-21del (n.421-21del) n.873-43del c.421-43del (n.421-43del) c.499-43del (n.499-43del) c.610-43del (n.610-43del) c.502-21del (n.502-21del) | dbSNP gnomAD v4 |
19 | g.1106356C= | CA2317520606 | GPX4 | c.613-44C= (n.613-44C=) c.482-44C= (n.482-44C=) c.496-44C= (n.496-44C=) c.118-44C= (n.118-44C=) c.502-44C= (n.502-44C=) c.477-44C= (n.477-44C=) c.235-44C= (n.235-44C=) c.382-44C= (n.382-44C=) c.421-22C= (n.421-22C=) n.873-44C= c.421-44C= (n.421-44C=) c.499-44C= (n.499-44C=) c.610-44C= (n.610-44C=) c.502-22C= (n.502-22C=) | |
19 | g.1106356C>T | CA783225251 | GPX4 | c.613-44C>T (n.613-44C>T) c.482-44C>T (n.482-44C>T) c.496-44C>T (n.496-44C>T) c.118-44C>T (n.118-44C>T) c.502-44C>T (n.502-44C>T) c.477-44C>T (n.477-44C>T) c.235-44C>T (n.235-44C>T) c.382-44C>T (n.382-44C>T) c.421-22C>T (n.421-22C>T) n.873-44C>T c.421-44C>T (n.421-44C>T) c.499-44C>T (n.499-44C>T) c.610-44C>T (n.610-44C>T) c.502-22C>T (n.502-22C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1106359T>G | CA2576545166 | GPX4 | c.613-41T>G (n.613-41T>G) c.482-41T>G (n.482-41T>G) c.496-41T>G (n.496-41T>G) c.118-41T>G (n.118-41T>G) c.502-41T>G (n.502-41T>G) c.477-41T>G (n.477-41T>G) c.235-41T>G (n.235-41T>G) c.382-41T>G (n.382-41T>G) c.421-19T>G (n.421-19T>G) n.873-41T>G c.421-41T>G (n.421-41T>G) c.499-41T>G (n.499-41T>G) c.610-41T>G (n.610-41T>G) c.502-19T>G (n.502-19T>G) | |
19 | g.1106360G>A | CA783225252 | GPX4 | c.613-40G>A (n.613-40G>A) c.482-40G>A (n.482-40G>A) c.496-40G>A (n.496-40G>A) c.118-40G>A (n.118-40G>A) c.502-40G>A (n.502-40G>A) c.477-40G>A (n.477-40G>A) c.235-40G>A (n.235-40G>A) c.382-40G>A (n.382-40G>A) c.421-18G>A (n.421-18G>A) n.873-40G>A c.421-40G>A (n.421-40G>A) c.499-40G>A (n.499-40G>A) c.610-40G>A (n.610-40G>A) c.502-18G>A (n.502-18G>A) | dbSNP |
19 | g.1106360G= | CA2317520607 | GPX4 | c.613-40G= (n.613-40G=) c.482-40G= (n.482-40G=) c.496-40G= (n.496-40G=) c.118-40G= (n.118-40G=) c.502-40G= (n.502-40G=) c.477-40G= (n.477-40G=) c.235-40G= (n.235-40G=) c.382-40G= (n.382-40G=) c.421-18G= (n.421-18G=) n.873-40G= c.421-40G= (n.421-40G=) c.499-40G= (n.499-40G=) c.610-40G= (n.610-40G=) c.502-18G= (n.502-18G=) | |
19 | g.1106361C= | CA2317520608 | GPX4 | c.613-39C= (n.613-39C=) c.482-39C= (n.482-39C=) c.496-39C= (n.496-39C=) c.118-39C= (n.118-39C=) c.502-39C= (n.502-39C=) c.477-39C= (n.477-39C=) c.235-39C= (n.235-39C=) c.382-39C= (n.382-39C=) c.421-17C= (n.421-17C=) n.873-39C= c.421-39C= (n.421-39C=) c.499-39C= (n.499-39C=) c.610-39C= (n.610-39C=) c.502-17C= (n.502-17C=) | |
19 | g.1106361C>T | CA9037446 | GPX4 | c.613-39C>T (n.613-39C>T) c.482-39C>T (n.482-39C>T) c.496-39C>T (n.496-39C>T) c.118-39C>T (n.118-39C>T) c.502-39C>T (n.502-39C>T) c.477-39C>T (n.477-39C>T) c.235-39C>T (n.235-39C>T) c.382-39C>T (n.382-39C>T) c.421-17C>T (n.421-17C>T) n.873-39C>T c.421-39C>T (n.421-39C>T) c.499-39C>T (n.499-39C>T) c.610-39C>T (n.610-39C>T) c.502-17C>T (n.502-17C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106363G>A | CA2588207834 | GPX4 | c.613-37G>A (n.613-37G>A) c.482-37G>A (n.482-37G>A) c.496-37G>A (n.496-37G>A) c.118-37G>A (n.118-37G>A) c.502-37G>A (n.502-37G>A) c.477-37G>A (n.477-37G>A) c.235-37G>A (n.235-37G>A) c.382-37G>A (n.382-37G>A) c.421-15G>A (n.421-15G>A) n.873-37G>A c.421-37G>A (n.421-37G>A) c.499-37G>A (n.499-37G>A) c.610-37G>A (n.610-37G>A) c.502-15G>A (n.502-15G>A) | gnomAD v4 |
19 | g.1106364G>A | CA631298708 | GPX4 | c.613-36G>A (n.613-36G>A) c.482-36G>A (n.482-36G>A) c.496-36G>A (n.496-36G>A) c.118-36G>A (n.118-36G>A) c.502-36G>A (n.502-36G>A) c.477-36G>A (n.477-36G>A) c.235-36G>A (n.235-36G>A) c.382-36G>A (n.382-36G>A) c.421-14G>A (n.421-14G>A) n.873-36G>A c.421-36G>A (n.421-36G>A) c.499-36G>A (n.499-36G>A) c.610-36G>A (n.610-36G>A) c.502-14G>A (n.502-14G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1106364G= | CA2317520609 | GPX4 | c.613-36G= (n.613-36G=) c.482-36G= (n.482-36G=) c.496-36G= (n.496-36G=) c.118-36G= (n.118-36G=) c.502-36G= (n.502-36G=) c.477-36G= (n.477-36G=) c.235-36G= (n.235-36G=) c.382-36G= (n.382-36G=) c.421-14G= (n.421-14G=) n.873-36G= c.421-36G= (n.421-36G=) c.499-36G= (n.499-36G=) c.610-36G= (n.610-36G=) c.502-14G= (n.502-14G=) | |
19 | g.1106365G>A | CA9037447 | GPX4 | c.613-35G>A (n.613-35G>A) c.482-35G>A (n.482-35G>A) c.496-35G>A (n.496-35G>A) c.118-35G>A (n.118-35G>A) c.502-35G>A (n.502-35G>A) c.477-35G>A (n.477-35G>A) c.235-35G>A (n.235-35G>A) c.382-35G>A (n.382-35G>A) c.421-13G>A (n.421-13G>A) n.873-35G>A c.421-35G>A (n.421-35G>A) c.499-35G>A (n.499-35G>A) c.610-35G>A (n.610-35G>A) c.502-13G>A (n.502-13G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1106365G>C | CA631298709 | GPX4 | c.613-35G>C (n.613-35G>C) c.482-35G>C (n.482-35G>C) c.496-35G>C (n.496-35G>C) c.118-35G>C (n.118-35G>C) c.502-35G>C (n.502-35G>C) c.477-35G>C (n.477-35G>C) c.235-35G>C (n.235-35G>C) c.382-35G>C (n.382-35G>C) c.421-13G>C (n.421-13G>C) n.873-35G>C c.421-35G>C (n.421-35G>C) c.499-35G>C (n.499-35G>C) c.610-35G>C (n.610-35G>C) c.502-13G>C (n.502-13G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1106365G= | CA2317520610 | GPX4 | c.613-35G= (n.613-35G=) c.482-35G= (n.482-35G=) c.496-35G= (n.496-35G=) c.118-35G= (n.118-35G=) c.502-35G= (n.502-35G=) c.477-35G= (n.477-35G=) c.235-35G= (n.235-35G=) c.382-35G= (n.382-35G=) c.421-13G= (n.421-13G=) n.873-35G= c.421-35G= (n.421-35G=) c.499-35G= (n.499-35G=) c.610-35G= (n.610-35G=) c.502-13G= (n.502-13G=) | |
19 | g.1106366G>A | CA2588207835 | GPX4 | c.613-34G>A (n.613-34G>A) c.482-34G>A (n.482-34G>A) c.496-34G>A (n.496-34G>A) c.118-34G>A (n.118-34G>A) c.502-34G>A (n.502-34G>A) c.477-34G>A (n.477-34G>A) c.235-34G>A (n.235-34G>A) c.382-34G>A (n.382-34G>A) c.421-12G>A (n.421-12G>A) n.873-34G>A c.421-34G>A (n.421-34G>A) c.499-34G>A (n.499-34G>A) c.610-34G>A (n.610-34G>A) c.502-12G>A (n.502-12G>A) | gnomAD v4 |
19 | g.1106366G>C | CA2588207836 | GPX4 | c.613-34G>C (n.613-34G>C) c.482-34G>C (n.482-34G>C) c.496-34G>C (n.496-34G>C) c.118-34G>C (n.118-34G>C) c.502-34G>C (n.502-34G>C) c.477-34G>C (n.477-34G>C) c.235-34G>C (n.235-34G>C) c.382-34G>C (n.382-34G>C) c.421-12G>C (n.421-12G>C) n.873-34G>C c.421-34G>C (n.421-34G>C) c.499-34G>C (n.499-34G>C) c.610-34G>C (n.610-34G>C) c.502-12G>C (n.502-12G>C) | gnomAD v4 |
19 | g.1106367T>C | CA2317520612 | GPX4 | c.613-33T>C (n.613-33T>C) c.482-33T>C (n.482-33T>C) c.496-33T>C (n.496-33T>C) c.118-33T>C (n.118-33T>C) c.502-33T>C (n.502-33T>C) c.477-33T>C (n.477-33T>C) c.235-33T>C (n.235-33T>C) c.382-33T>C (n.382-33T>C) c.421-11T>C (n.421-11T>C) n.873-33T>C c.421-33T>C (n.421-33T>C) c.499-33T>C (n.499-33T>C) c.610-33T>C (n.610-33T>C) c.502-11T>C (n.502-11T>C) | dbSNP |
19 | g.1106367T>G | CA2588207837 | GPX4 | c.613-33T>G (n.613-33T>G) c.482-33T>G (n.482-33T>G) c.496-33T>G (n.496-33T>G) c.118-33T>G (n.118-33T>G) c.502-33T>G (n.502-33T>G) c.477-33T>G (n.477-33T>G) c.235-33T>G (n.235-33T>G) c.382-33T>G (n.382-33T>G) c.421-11T>G (n.421-11T>G) n.873-33T>G c.421-33T>G (n.421-33T>G) c.499-33T>G (n.499-33T>G) c.610-33T>G (n.610-33T>G) c.502-11T>G (n.502-11T>G) | gnomAD v4 |
19 | g.1106367T= | CA2317520611 | GPX4 | c.613-33T= (n.613-33T=) c.482-33T= (n.482-33T=) c.496-33T= (n.496-33T=) c.118-33T= (n.118-33T=) c.502-33T= (n.502-33T=) c.477-33T= (n.477-33T=) c.235-33T= (n.235-33T=) c.382-33T= (n.382-33T=) c.421-11T= (n.421-11T=) n.873-33T= c.421-33T= (n.421-33T=) c.499-33T= (n.499-33T=) c.610-33T= (n.610-33T=) c.502-11T= (n.502-11T=) | |
19 | g.1106368G>A | CA9037448 | GPX4 | c.613-32G>A (n.613-32G>A) c.482-32G>A (n.482-32G>A) c.496-32G>A (n.496-32G>A) c.118-32G>A (n.118-32G>A) c.502-32G>A (n.502-32G>A) c.477-32G>A (n.477-32G>A) c.235-32G>A (n.235-32G>A) c.382-32G>A (n.382-32G>A) c.421-10G>A (n.421-10G>A) n.873-32G>A c.421-32G>A (n.421-32G>A) c.499-32G>A (n.499-32G>A) c.610-32G>A (n.610-32G>A) c.502-10G>A (n.502-10G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106368G= | CA2317520613 | GPX4 | c.613-32G= (n.613-32G=) c.482-32G= (n.482-32G=) c.496-32G= (n.496-32G=) c.118-32G= (n.118-32G=) c.502-32G= (n.502-32G=) c.477-32G= (n.477-32G=) c.235-32G= (n.235-32G=) c.382-32G= (n.382-32G=) c.421-10G= (n.421-10G=) n.873-32G= c.421-32G= (n.421-32G=) c.499-32G= (n.499-32G=) c.610-32G= (n.610-32G=) c.502-10G= (n.502-10G=) | |
19 | g.1106369G>A | CA2576545167 | GPX4 | c.613-31G>A (n.613-31G>A) c.482-31G>A (n.482-31G>A) c.496-31G>A (n.496-31G>A) c.118-31G>A (n.118-31G>A) c.502-31G>A (n.502-31G>A) c.477-31G>A (n.477-31G>A) c.235-31G>A (n.235-31G>A) c.382-31G>A (n.382-31G>A) c.421-9G>A (n.421-9G>A) n.873-31G>A c.421-31G>A (n.421-31G>A) c.499-31G>A (n.499-31G>A) c.610-31G>A (n.610-31G>A) c.502-9G>A (n.502-9G>A) | gnomAD v4 |
19 | g.1106369G>C | CA2588207838 | GPX4 | c.613-31G>C (n.613-31G>C) c.482-31G>C (n.482-31G>C) c.496-31G>C (n.496-31G>C) c.118-31G>C (n.118-31G>C) c.502-31G>C (n.502-31G>C) c.477-31G>C (n.477-31G>C) c.235-31G>C (n.235-31G>C) c.382-31G>C (n.382-31G>C) c.421-9G>C (n.421-9G>C) n.873-31G>C c.421-31G>C (n.421-31G>C) c.499-31G>C (n.499-31G>C) c.610-31G>C (n.610-31G>C) c.502-9G>C (n.502-9G>C) | gnomAD v4 |
19 | g.1106369G= | CA2317520614 | GPX4 | c.613-31G= (n.613-31G=) c.482-31G= (n.482-31G=) c.496-31G= (n.496-31G=) c.118-31G= (n.118-31G=) c.502-31G= (n.502-31G=) c.477-31G= (n.477-31G=) c.235-31G= (n.235-31G=) c.382-31G= (n.382-31G=) c.421-9G= (n.421-9G=) n.873-31G= c.421-31G= (n.421-31G=) c.499-31G= (n.499-31G=) c.610-31G= (n.610-31G=) c.502-9G= (n.502-9G=) | |
19 | g.1106369G>T | CA2317520615 | GPX4 | c.613-31G>T (n.613-31G>T) c.482-31G>T (n.482-31G>T) c.496-31G>T (n.496-31G>T) c.118-31G>T (n.118-31G>T) c.502-31G>T (n.502-31G>T) c.477-31G>T (n.477-31G>T) c.235-31G>T (n.235-31G>T) c.382-31G>T (n.382-31G>T) c.421-9G>T (n.421-9G>T) n.873-31G>T c.421-31G>T (n.421-31G>T) c.499-31G>T (n.499-31G>T) c.610-31G>T (n.610-31G>T) c.502-9G>T (n.502-9G>T) | dbSNP gnomAD v4 |
19 | g.1106370C= | CA2317520616 | GPX4 | c.613-30C= (n.613-30C=) c.482-30C= (n.482-30C=) c.496-30C= (n.496-30C=) c.118-30C= (n.118-30C=) c.502-30C= (n.502-30C=) c.477-30C= (n.477-30C=) c.235-30C= (n.235-30C=) c.382-30C= (n.382-30C=) c.421-8C= (n.421-8C=) n.873-30C= c.421-30C= (n.421-30C=) c.499-30C= (n.499-30C=) c.610-30C= (n.610-30C=) c.502-8C= (n.502-8C=) | |
19 | g.1106370C>T | CA9037449 | GPX4 | c.613-30C>T (n.613-30C>T) c.482-30C>T (n.482-30C>T) c.496-30C>T (n.496-30C>T) c.118-30C>T (n.118-30C>T) c.502-30C>T (n.502-30C>T) c.477-30C>T (n.477-30C>T) c.235-30C>T (n.235-30C>T) c.382-30C>T (n.382-30C>T) c.421-8C>T (n.421-8C>T) n.873-30C>T c.421-30C>T (n.421-30C>T) c.499-30C>T (n.499-30C>T) c.610-30C>T (n.610-30C>T) c.502-8C>T (n.502-8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106373dup | CA2813238541 | GPX4 | c.613-27dup (n.613-27dup) c.482-27dup (n.482-27dup) c.496-27dup (n.496-27dup) c.118-27dup (n.118-27dup) c.502-27dup (n.502-27dup) c.477-27dup (n.477-27dup) c.235-27dup (n.235-27dup) c.382-27dup (n.382-27dup) c.421-5dup (n.421-5dup) n.873-27dup c.421-27dup (n.421-27dup) c.499-27dup (n.499-27dup) c.610-27dup (n.610-27dup) c.502-5dup (n.502-5dup) | |
19 | g.1106371C>A | CA2576545168 | GPX4 | c.613-29C>A (n.613-29C>A) c.482-29C>A (n.482-29C>A) c.496-29C>A (n.496-29C>A) c.118-29C>A (n.118-29C>A) c.502-29C>A (n.502-29C>A) c.477-29C>A (n.477-29C>A) c.235-29C>A (n.235-29C>A) c.382-29C>A (n.382-29C>A) c.421-7C>A (n.421-7C>A) n.873-29C>A c.421-29C>A (n.421-29C>A) c.499-29C>A (n.499-29C>A) c.610-29C>A (n.610-29C>A) c.502-7C>A (n.502-7C>A) | |
19 | g.1106371C= | CA2317520617 | GPX4 | c.613-29C= (n.613-29C=) c.482-29C= (n.482-29C=) c.496-29C= (n.496-29C=) c.118-29C= (n.118-29C=) c.502-29C= (n.502-29C=) c.477-29C= (n.477-29C=) c.235-29C= (n.235-29C=) c.382-29C= (n.382-29C=) c.421-7C= (n.421-7C=) n.873-29C= c.421-29C= (n.421-29C=) c.499-29C= (n.499-29C=) c.610-29C= (n.610-29C=) c.502-7C= (n.502-7C=) | |
19 | g.1106371C>T | CA783225261 | GPX4 | c.613-29C>T (n.613-29C>T) c.482-29C>T (n.482-29C>T) c.496-29C>T (n.496-29C>T) c.118-29C>T (n.118-29C>T) c.502-29C>T (n.502-29C>T) c.477-29C>T (n.477-29C>T) c.235-29C>T (n.235-29C>T) c.382-29C>T (n.382-29C>T) c.421-7C>T (n.421-7C>T) n.873-29C>T c.421-29C>T (n.421-29C>T) c.499-29C>T (n.499-29C>T) c.610-29C>T (n.610-29C>T) c.502-7C>T (n.502-7C>T) | dbSNP gnomAD v4 |
19 | g.1106372C= | CA2317520618 | GPX4 | c.613-28C= (n.613-28C=) c.482-28C= (n.482-28C=) c.496-28C= (n.496-28C=) c.118-28C= (n.118-28C=) c.502-28C= (n.502-28C=) c.477-28C= (n.477-28C=) c.235-28C= (n.235-28C=) c.382-28C= (n.382-28C=) c.421-6C= (n.421-6C=) n.873-28C= c.421-28C= (n.421-28C=) c.499-28C= (n.499-28C=) c.610-28C= (n.610-28C=) c.502-6C= (n.502-6C=) | |
19 | g.1106372C>G | CA631298711 | GPX4 | c.613-28C>G (n.613-28C>G) c.482-28C>G (n.482-28C>G) c.496-28C>G (n.496-28C>G) c.118-28C>G (n.118-28C>G) c.502-28C>G (n.502-28C>G) c.477-28C>G (n.477-28C>G) c.235-28C>G (n.235-28C>G) c.382-28C>G (n.382-28C>G) c.421-6C>G (n.421-6C>G) n.873-28C>G c.421-28C>G (n.421-28C>G) c.499-28C>G (n.499-28C>G) c.610-28C>G (n.610-28C>G) c.502-6C>G (n.502-6C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106372C>T | CA9037450 | GPX4 | c.613-28C>T (n.613-28C>T) c.482-28C>T (n.482-28C>T) c.496-28C>T (n.496-28C>T) c.118-28C>T (n.118-28C>T) c.502-28C>T (n.502-28C>T) c.477-28C>T (n.477-28C>T) c.235-28C>T (n.235-28C>T) c.382-28C>T (n.382-28C>T) c.421-6C>T (n.421-6C>T) n.873-28C>T c.421-28C>T (n.421-28C>T) c.499-28C>T (n.499-28C>T) c.610-28C>T (n.610-28C>T) c.502-6C>T (n.502-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106372_1106374delinsCCA | CA2317520619 | GPX4 | c.613-28_613-26delinsCCA (n.613-28_613-26delinsCCA) c.482-28_482-26delinsCCA (n.482-28_482-26delinsCCA) c.496-28_496-26delinsCCA (n.496-28_496-26delinsCCA) c.118-28_118-26delinsCCA (n.118-28_118-26delinsCCA) c.502-28_502-26delinsCCA (n.502-28_502-26delinsCCA) c.477-28_477-26delinsCCA (n.477-28_477-26delinsCCA) c.235-28_235-26delinsCCA (n.235-28_235-26delinsCCA) c.382-28_382-26delinsCCA (n.382-28_382-26delinsCCA) c.421-6_421-4delinsCCA (n.421-6_421-4delinsCCA) n.873-28_873-26delinsCCA c.421-28_421-26delinsCCA (n.421-28_421-26delinsCCA) c.499-28_499-26delinsCCA (n.499-28_499-26delinsCCA) c.610-28_610-26delinsCCA (n.610-28_610-26delinsCCA) c.502-6_502-4delinsCCA (n.502-6_502-4delinsCCA) | |
19 | g.1106373C= | CA2317520620 | GPX4 | c.613-27C= (n.613-27C=) c.482-27C= (n.482-27C=) c.496-27C= (n.496-27C=) c.118-27C= (n.118-27C=) c.502-27C= (n.502-27C=) c.477-27C= (n.477-27C=) c.235-27C= (n.235-27C=) c.382-27C= (n.382-27C=) c.421-5C= (n.421-5C=) n.873-27C= c.421-27C= (n.421-27C=) c.499-27C= (n.499-27C=) c.610-27C= (n.610-27C=) c.502-5C= (n.502-5C=) | |
19 | g.1106373C>T | CA9037451 | GPX4 | c.613-27C>T (n.613-27C>T) c.482-27C>T (n.482-27C>T) c.496-27C>T (n.496-27C>T) c.118-27C>T (n.118-27C>T) c.502-27C>T (n.502-27C>T) c.477-27C>T (n.477-27C>T) c.235-27C>T (n.235-27C>T) c.382-27C>T (n.382-27C>T) c.421-5C>T (n.421-5C>T) n.873-27C>T c.421-27C>T (n.421-27C>T) c.499-27C>T (n.499-27C>T) c.610-27C>T (n.610-27C>T) c.502-5C>T (n.502-5C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106375_1106376del | CA631298713 | GPX4 | c.613-25_613-24del (n.613-25_613-24del) c.482-25_482-24del (n.482-25_482-24del) c.496-25_496-24del (n.496-25_496-24del) c.118-25_118-24del (n.118-25_118-24del) c.502-25_502-24del (n.502-25_502-24del) c.477-25_477-24del (n.477-25_477-24del) c.235-25_235-24del (n.235-25_235-24del) c.382-25_382-24del (n.382-25_382-24del) c.421-3_421-2del (n.421-3_421-2del) n.873-25_873-24del c.421-25_421-24del (n.421-25_421-24del) c.499-25_499-24del (n.499-25_499-24del) c.610-25_610-24del (n.610-25_610-24del) c.502-3_502-2del (n.502-3_502-2del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106374A>G | CA2588207839 | GPX4 | c.613-26A>G (n.613-26A>G) c.482-26A>G (n.482-26A>G) c.496-26A>G (n.496-26A>G) c.118-26A>G (n.118-26A>G) c.502-26A>G (n.502-26A>G) c.477-26A>G (n.477-26A>G) c.235-26A>G (n.235-26A>G) c.382-26A>G (n.382-26A>G) c.421-4A>G (n.421-4A>G) n.873-26A>G c.421-26A>G (n.421-26A>G) c.499-26A>G (n.499-26A>G) c.610-26A>G (n.610-26A>G) c.502-4A>G (n.502-4A>G) | gnomAD v4 |
19 | g.1106375C>A | CA2588207840 | GPX4 | c.613-25C>A (n.613-25C>A) c.482-25C>A (n.482-25C>A) c.496-25C>A (n.496-25C>A) c.118-25C>A (n.118-25C>A) c.502-25C>A (n.502-25C>A) c.477-25C>A (n.477-25C>A) c.235-25C>A (n.235-25C>A) c.382-25C>A (n.382-25C>A) c.421-3C>A (n.421-3C>A) n.873-25C>A c.421-25C>A (n.421-25C>A) c.499-25C>A (n.499-25C>A) c.610-25C>A (n.610-25C>A) c.502-3C>A (n.502-3C>A) | gnomAD v4 |
19 | g.1106375C= | CA2317520621 | GPX4 | c.613-25C= (n.613-25C=) c.482-25C= (n.482-25C=) c.496-25C= (n.496-25C=) c.118-25C= (n.118-25C=) c.502-25C= (n.502-25C=) c.477-25C= (n.477-25C=) c.235-25C= (n.235-25C=) c.382-25C= (n.382-25C=) c.421-3C= (n.421-3C=) n.873-25C= c.421-25C= (n.421-25C=) c.499-25C= (n.499-25C=) c.610-25C= (n.610-25C=) c.502-3C= (n.502-3C=) | |
19 | g.1106375C>T | CA9037452 | GPX4 | c.613-25C>T (n.613-25C>T) c.482-25C>T (n.482-25C>T) c.496-25C>T (n.496-25C>T) c.118-25C>T (n.118-25C>T) c.502-25C>T (n.502-25C>T) c.477-25C>T (n.477-25C>T) c.235-25C>T (n.235-25C>T) c.382-25C>T (n.382-25C>T) c.421-3C>T (n.421-3C>T) n.873-25C>T c.421-25C>T (n.421-25C>T) c.499-25C>T (n.499-25C>T) c.610-25C>T (n.610-25C>T) c.502-3C>T (n.502-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1106376A= | CA2317520622 | GPX4 | c.613-24A= (n.613-24A=) c.482-24A= (n.482-24A=) c.496-24A= (n.496-24A=) c.118-24A= (n.118-24A=) c.502-24A= (n.502-24A=) c.477-24A= (n.477-24A=) c.235-24A= (n.235-24A=) c.382-24A= (n.382-24A=) c.421-2A= (n.421-2A=) n.873-24A= c.421-24A= (n.421-24A=) c.499-24A= (n.499-24A=) c.610-24A= (n.610-24A=) c.502-2A= (n.502-2A=) | |
19 | g.1106376A>C | CA402939418 | GPX4 | c.613-24A>C (n.613-24A>C) c.482-24A>C (n.482-24A>C) c.496-24A>C (n.496-24A>C) c.118-24A>C (n.118-24A>C) c.502-24A>C (n.502-24A>C) c.477-24A>C (n.477-24A>C) c.235-24A>C (n.235-24A>C) c.382-24A>C (n.382-24A>C) c.421-2A>C (n.421-2A>C) n.873-24A>C c.421-24A>C (n.421-24A>C) c.499-24A>C (n.499-24A>C) c.610-24A>C (n.610-24A>C) c.502-2A>C (n.502-2A>C) | |
19 | g.1106376A>G | CA9037453 | GPX4 | c.613-24A>G (n.613-24A>G) c.482-24A>G (n.482-24A>G) c.496-24A>G (n.496-24A>G) c.118-24A>G (n.118-24A>G) c.502-24A>G (n.502-24A>G) c.477-24A>G (n.477-24A>G) c.235-24A>G (n.235-24A>G) c.382-24A>G (n.382-24A>G) c.421-2A>G (n.421-2A>G) n.873-24A>G c.421-24A>G (n.421-24A>G) c.499-24A>G (n.499-24A>G) c.610-24A>G (n.610-24A>G) c.502-2A>G (n.502-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106376A>T | CA402939423 | GPX4 | c.613-24A>T (n.613-24A>T) c.482-24A>T (n.482-24A>T) c.496-24A>T (n.496-24A>T) c.118-24A>T (n.118-24A>T) c.502-24A>T (n.502-24A>T) c.477-24A>T (n.477-24A>T) c.235-24A>T (n.235-24A>T) c.382-24A>T (n.382-24A>T) c.421-2A>T (n.421-2A>T) n.873-24A>T c.421-24A>T (n.421-24A>T) c.499-24A>T (n.499-24A>T) c.610-24A>T (n.610-24A>T) c.502-2A>T (n.502-2A>T) | gnomAD v4 |
19 | g.1106377G>A | CA402939435 | GPX4 | c.613-23G>A (n.613-23G>A) c.482-23G>A (n.482-23G>A) c.496-23G>A (n.496-23G>A) c.118-23G>A (n.118-23G>A) c.502-23G>A (n.502-23G>A) c.477-23G>A (n.477-23G>A) c.235-23G>A (n.235-23G>A) c.382-23G>A (n.382-23G>A) c.421-1G>A (n.421-1G>A) n.873-23G>A c.421-23G>A (n.421-23G>A) c.499-23G>A (n.499-23G>A) c.610-23G>A (n.610-23G>A) c.502-1G>A (n.502-1G>A) | |
19 | g.1106377G>C | CA402939430 | GPX4 | c.613-23G>C (n.613-23G>C) c.482-23G>C (n.482-23G>C) c.496-23G>C (n.496-23G>C) c.118-23G>C (n.118-23G>C) c.502-23G>C (n.502-23G>C) c.477-23G>C (n.477-23G>C) c.235-23G>C (n.235-23G>C) c.382-23G>C (n.382-23G>C) c.421-1G>C (n.421-1G>C) n.873-23G>C c.421-23G>C (n.421-23G>C) c.499-23G>C (n.499-23G>C) c.610-23G>C (n.610-23G>C) c.502-1G>C (n.502-1G>C) | |
19 | g.1106377G>T | CA402939426 | GPX4 | c.613-23G>T (n.613-23G>T) c.482-23G>T (n.482-23G>T) c.496-23G>T (n.496-23G>T) c.118-23G>T (n.118-23G>T) c.502-23G>T (n.502-23G>T) c.477-23G>T (n.477-23G>T) c.235-23G>T (n.235-23G>T) c.382-23G>T (n.382-23G>T) c.421-1G>T (n.421-1G>T) n.873-23G>T c.421-23G>T (n.421-23G>T) c.499-23G>T (n.499-23G>T) c.610-23G>T (n.610-23G>T) c.502-1G>T (n.502-1G>T) | |
19 | g.1106378T>A | CA402939439 | GPX4 | c.613-22T>A (n.613-22T>A) c.482-22T>A (n.482-22T>A) c.496-22T>A (n.496-22T>A) c.118-22T>A (n.118-22T>A) c.502-22T>A (n.502-22T>A) c.477-22T>A (n.477-22T>A) c.235-22T>A (n.235-22T>A) c.382-22T>A (n.382-22T>A) c.421T>A (p.Phe141Ile) n.873-22T>A c.421-22T>A (n.421-22T>A) c.499-22T>A (n.499-22T>A) c.610-22T>A (n.610-22T>A) c.502T>A (p.Phe168Ile) | |
19 | g.1106378T>C | CA402939442 | GPX4 | c.613-22T>C (n.613-22T>C) c.482-22T>C (n.482-22T>C) c.496-22T>C (n.496-22T>C) c.118-22T>C (n.118-22T>C) c.502-22T>C (n.502-22T>C) c.477-22T>C (n.477-22T>C) c.235-22T>C (n.235-22T>C) c.382-22T>C (n.382-22T>C) c.421T>C (p.Phe141Leu) n.873-22T>C c.421-22T>C (n.421-22T>C) c.499-22T>C (n.499-22T>C) c.610-22T>C (n.610-22T>C) c.502T>C (p.Phe168Leu) | |
19 | g.1106378T>G | CA402939446 | GPX4 | c.613-22T>G (n.613-22T>G) c.482-22T>G (n.482-22T>G) c.496-22T>G (n.496-22T>G) c.118-22T>G (n.118-22T>G) c.502-22T>G (n.502-22T>G) c.477-22T>G (n.477-22T>G) c.235-22T>G (n.235-22T>G) c.382-22T>G (n.382-22T>G) c.421T>G (p.Phe141Val) n.873-22T>G c.421-22T>G (n.421-22T>G) c.499-22T>G (n.499-22T>G) c.610-22T>G (n.610-22T>G) c.502T>G (p.Phe168Val) | |
19 | g.1106379T>A | CA402939449 | GPX4 | c.613-21T>A (n.613-21T>A) c.482-21T>A (n.482-21T>A) c.496-21T>A (n.496-21T>A) c.118-21T>A (n.118-21T>A) c.502-21T>A (n.502-21T>A) c.477-21T>A (n.477-21T>A) c.235-21T>A (n.235-21T>A) c.382-21T>A (n.382-21T>A) c.422T>A (p.Phe141Tyr) n.873-21T>A c.421-21T>A (n.421-21T>A) c.499-21T>A (n.499-21T>A) c.610-21T>A (n.610-21T>A) c.503T>A (p.Phe168Tyr) | |
19 | g.1106379T>C | CA402939452 | GPX4 | c.613-21T>C (n.613-21T>C) c.482-21T>C (n.482-21T>C) c.496-21T>C (n.496-21T>C) c.118-21T>C (n.118-21T>C) c.502-21T>C (n.502-21T>C) c.477-21T>C (n.477-21T>C) c.235-21T>C (n.235-21T>C) c.382-21T>C (n.382-21T>C) c.422T>C (p.Phe141Ser) n.873-21T>C c.421-21T>C (n.421-21T>C) c.499-21T>C (n.499-21T>C) c.610-21T>C (n.610-21T>C) c.503T>C (p.Phe168Ser) | |
19 | g.1106379T>G | CA402939456 | GPX4 | c.613-21T>G (n.613-21T>G) c.482-21T>G (n.482-21T>G) c.496-21T>G (n.496-21T>G) c.118-21T>G (n.118-21T>G) c.502-21T>G (n.502-21T>G) c.477-21T>G (n.477-21T>G) c.235-21T>G (n.235-21T>G) c.382-21T>G (n.382-21T>G) c.422T>G (p.Phe141Cys) n.873-21T>G c.421-21T>G (n.421-21T>G) c.499-21T>G (n.499-21T>G) c.610-21T>G (n.610-21T>G) c.503T>G (p.Phe168Cys) | |
19 | g.1106380T>A | CA402939460 | GPX4 | c.613-20T>A (n.613-20T>A) c.482-20T>A (n.482-20T>A) c.496-20T>A (n.496-20T>A) c.118-20T>A (n.118-20T>A) c.502-20T>A (n.502-20T>A) c.477-20T>A (n.477-20T>A) c.235-20T>A (n.235-20T>A) c.382-20T>A (n.382-20T>A) c.423T>A (p.Phe141Leu) n.873-20T>A c.421-20T>A (n.421-20T>A) c.499-20T>A (n.499-20T>A) c.610-20T>A (n.610-20T>A) c.504T>A (p.Phe168Leu) | |
19 | g.1106380T>C | CA2588207841 | GPX4 | c.613-20T>C (n.613-20T>C) c.482-20T>C (n.482-20T>C) c.496-20T>C (n.496-20T>C) c.118-20T>C (n.118-20T>C) c.502-20T>C (n.502-20T>C) c.477-20T>C (n.477-20T>C) c.235-20T>C (n.235-20T>C) c.382-20T>C (n.382-20T>C) c.423T>C (p.Phe141=) n.873-20T>C c.421-20T>C (n.421-20T>C) c.499-20T>C (n.499-20T>C) c.610-20T>C (n.610-20T>C) c.504T>C (p.Phe168=) | gnomAD v4 |
19 | g.1106380T>G | CA402939459 | GPX4 | c.613-20T>G (n.613-20T>G) c.482-20T>G (n.482-20T>G) c.496-20T>G (n.496-20T>G) c.118-20T>G (n.118-20T>G) c.502-20T>G (n.502-20T>G) c.477-20T>G (n.477-20T>G) c.235-20T>G (n.235-20T>G) c.382-20T>G (n.382-20T>G) c.423T>G (p.Phe141Leu) n.873-20T>G c.421-20T>G (n.421-20T>G) c.499-20T>G (n.499-20T>G) c.610-20T>G (n.610-20T>G) c.504T>G (p.Phe168Leu) | dbSNP |
19 | g.1106380T= | CA2317520623 | GPX4 | c.613-20T= (n.613-20T=) c.482-20T= (n.482-20T=) c.496-20T= (n.496-20T=) c.118-20T= (n.118-20T=) c.502-20T= (n.502-20T=) c.477-20T= (n.477-20T=) c.235-20T= (n.235-20T=) c.382-20T= (n.382-20T=) c.423T= (p.Phe141=) n.873-20T= c.421-20T= (n.421-20T=) c.499-20T= (n.499-20T=) c.610-20T= (n.610-20T=) c.504T= (p.Phe168=) | |
19 | g.1106381G>A | CA9037454 | GPX4 | c.613-19G>A (n.613-19G>A) c.482-19G>A (n.482-19G>A) c.496-19G>A (n.496-19G>A) c.118-19G>A (n.118-19G>A) c.502-19G>A (n.502-19G>A) c.477-19G>A (n.477-19G>A) c.235-19G>A (n.235-19G>A) c.382-19G>A (n.382-19G>A) c.424G>A (p.Gly142Arg) n.873-19G>A c.421-19G>A (n.421-19G>A) c.499-19G>A (n.499-19G>A) c.610-19G>A (n.610-19G>A) c.505G>A (p.Gly169Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106381G>C | CA402939463 | GPX4 | c.613-19G>C (n.613-19G>C) c.482-19G>C (n.482-19G>C) c.496-19G>C (n.496-19G>C) c.118-19G>C (n.118-19G>C) c.502-19G>C (n.502-19G>C) c.477-19G>C (n.477-19G>C) c.235-19G>C (n.235-19G>C) c.382-19G>C (n.382-19G>C) c.424G>C (p.Gly142Arg) n.873-19G>C c.421-19G>C (n.421-19G>C) c.499-19G>C (n.499-19G>C) c.610-19G>C (n.610-19G>C) c.505G>C (p.Gly169Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1106381G= | CA2317520624 | GPX4 | c.613-19G= (n.613-19G=) c.482-19G= (n.482-19G=) c.496-19G= (n.496-19G=) c.118-19G= (n.118-19G=) c.502-19G= (n.502-19G=) c.477-19G= (n.477-19G=) c.235-19G= (n.235-19G=) c.382-19G= (n.382-19G=) c.424G= (p.Gly142=) n.873-19G= c.421-19G= (n.421-19G=) c.499-19G= (n.499-19G=) c.610-19G= (n.610-19G=) c.505G= (p.Gly169=) | |
19 | g.1106381G>T | CA402939466 | GPX4 | c.613-19G>T (n.613-19G>T) c.482-19G>T (n.482-19G>T) c.496-19G>T (n.496-19G>T) c.118-19G>T (n.118-19G>T) c.502-19G>T (n.502-19G>T) c.477-19G>T (n.477-19G>T) c.235-19G>T (n.235-19G>T) c.382-19G>T (n.382-19G>T) c.424G>T (p.Gly142Ter) n.873-19G>T c.421-19G>T (n.421-19G>T) c.499-19G>T (n.499-19G>T) c.610-19G>T (n.610-19G>T) c.505G>T (p.Gly169Ter) | |
19 | g.1106382G>A | CA402939470 | GPX4 | c.613-18G>A (n.613-18G>A) c.482-18G>A (n.482-18G>A) c.496-18G>A (n.496-18G>A) c.118-18G>A (n.118-18G>A) c.502-18G>A (n.502-18G>A) c.477-18G>A (n.477-18G>A) c.235-18G>A (n.235-18G>A) c.382-18G>A (n.382-18G>A) c.425G>A (p.Gly142Glu) n.873-18G>A c.421-18G>A (n.421-18G>A) c.499-18G>A (n.499-18G>A) c.610-18G>A (n.610-18G>A) c.506G>A (p.Gly169Glu) | |
19 | g.1106382G>C | CA402939473 | GPX4 | c.613-18G>C (n.613-18G>C) c.482-18G>C (n.482-18G>C) c.496-18G>C (n.496-18G>C) c.118-18G>C (n.118-18G>C) c.502-18G>C (n.502-18G>C) c.477-18G>C (n.477-18G>C) c.235-18G>C (n.235-18G>C) c.382-18G>C (n.382-18G>C) c.425G>C (p.Gly142Ala) n.873-18G>C c.421-18G>C (n.421-18G>C) c.499-18G>C (n.499-18G>C) c.610-18G>C (n.610-18G>C) c.506G>C (p.Gly169Ala) | |
19 | g.1106382G= | CA2317520625 | GPX4 | c.613-18G= (n.613-18G=) c.482-18G= (n.482-18G=) c.496-18G= (n.496-18G=) c.118-18G= (n.118-18G=) c.502-18G= (n.502-18G=) c.477-18G= (n.477-18G=) c.235-18G= (n.235-18G=) c.382-18G= (n.382-18G=) c.425G= (p.Gly142=) n.873-18G= c.421-18G= (n.421-18G=) c.499-18G= (n.499-18G=) c.610-18G= (n.610-18G=) c.506G= (p.Gly169=) | |
19 | g.1106382G>T | CA402939481 | GPX4 | c.613-18G>T (n.613-18G>T) c.482-18G>T (n.482-18G>T) c.496-18G>T (n.496-18G>T) c.118-18G>T (n.118-18G>T) c.502-18G>T (n.502-18G>T) c.477-18G>T (n.477-18G>T) c.235-18G>T (n.235-18G>T) c.382-18G>T (n.382-18G>T) c.425G>T (p.Gly142Val) n.873-18G>T c.421-18G>T (n.421-18G>T) c.499-18G>T (n.499-18G>T) c.610-18G>T (n.610-18G>T) c.506G>T (p.Gly169Val) | dbSNP gnomAD v4 |
19 | g.1106383A>T | CA2588207842 | GPX4 | c.613-17A>T (n.613-17A>T) c.482-17A>T (n.482-17A>T) c.496-17A>T (n.496-17A>T) c.118-17A>T (n.118-17A>T) c.502-17A>T (n.502-17A>T) c.477-17A>T (n.477-17A>T) c.235-17A>T (n.235-17A>T) c.382-17A>T (n.382-17A>T) c.426A>T (p.Gly142=) n.873-17A>T c.421-17A>T (n.421-17A>T) c.499-17A>T (n.499-17A>T) c.610-17A>T (n.610-17A>T) c.507A>T (p.Gly169=) | gnomAD v4 |
19 | g.1106384C>A | CA402939485 | GPX4 | c.613-16C>A (n.613-16C>A) c.482-16C>A (n.482-16C>A) c.496-16C>A (n.496-16C>A) c.118-16C>A (n.118-16C>A) c.502-16C>A (n.502-16C>A) c.477-16C>A (n.477-16C>A) c.235-16C>A (n.235-16C>A) c.382-16C>A (n.382-16C>A) c.427C>A (p.His143Asn) n.873-16C>A c.421-16C>A (n.421-16C>A) c.499-16C>A (n.499-16C>A) c.610-16C>A (n.610-16C>A) c.508C>A (p.His170Asn) | |
19 | g.1106384C= | CA2317520626 | GPX4 | c.613-16C= (n.613-16C=) c.482-16C= (n.482-16C=) c.496-16C= (n.496-16C=) c.118-16C= (n.118-16C=) c.502-16C= (n.502-16C=) c.477-16C= (n.477-16C=) c.235-16C= (n.235-16C=) c.382-16C= (n.382-16C=) c.427C= (p.His143=) n.873-16C= c.421-16C= (n.421-16C=) c.499-16C= (n.499-16C=) c.610-16C= (n.610-16C=) c.508C= (p.His170=) | |
19 | g.1106384C>G | CA402939513 | GPX4 | c.613-16C>G (n.613-16C>G) c.482-16C>G (n.482-16C>G) c.496-16C>G (n.496-16C>G) c.118-16C>G (n.118-16C>G) c.502-16C>G (n.502-16C>G) c.477-16C>G (n.477-16C>G) c.235-16C>G (n.235-16C>G) c.382-16C>G (n.382-16C>G) c.427C>G (p.His143Asp) n.873-16C>G c.421-16C>G (n.421-16C>G) c.499-16C>G (n.499-16C>G) c.610-16C>G (n.610-16C>G) c.508C>G (p.His170Asp) | |
19 | g.1106384C>T | CA303994769 | GPX4 | c.613-16C>T (n.613-16C>T) c.482-16C>T (n.482-16C>T) c.496-16C>T (n.496-16C>T) c.118-16C>T (n.118-16C>T) c.502-16C>T (n.502-16C>T) c.477-16C>T (n.477-16C>T) c.235-16C>T (n.235-16C>T) c.382-16C>T (n.382-16C>T) c.427C>T (p.His143Tyr) n.873-16C>T c.421-16C>T (n.421-16C>T) c.499-16C>T (n.499-16C>T) c.610-16C>T (n.610-16C>T) c.508C>T (p.His170Tyr) | dbSNP gnomAD v4 |
19 | g.1106385A>C | CA402939516 | GPX4 | c.613-15A>C (n.613-15A>C) c.482-15A>C (n.482-15A>C) c.496-15A>C (n.496-15A>C) c.118-15A>C (n.118-15A>C) c.502-15A>C (n.502-15A>C) c.477-15A>C (n.477-15A>C) c.235-15A>C (n.235-15A>C) c.382-15A>C (n.382-15A>C) c.428A>C (p.His143Pro) n.873-15A>C c.421-15A>C (n.421-15A>C) c.499-15A>C (n.499-15A>C) c.610-15A>C (n.610-15A>C) c.509A>C (p.His170Pro) | |
19 | g.1106385A>G | CA402939517 | GPX4 | c.613-15A>G (n.613-15A>G) c.482-15A>G (n.482-15A>G) c.496-15A>G (n.496-15A>G) c.118-15A>G (n.118-15A>G) c.502-15A>G (n.502-15A>G) c.477-15A>G (n.477-15A>G) c.235-15A>G (n.235-15A>G) c.382-15A>G (n.382-15A>G) c.428A>G (p.His143Arg) n.873-15A>G c.421-15A>G (n.421-15A>G) c.499-15A>G (n.499-15A>G) c.610-15A>G (n.610-15A>G) c.509A>G (p.His170Arg) | |
19 | g.1106385A>T | CA402939519 | GPX4 | c.613-15A>T (n.613-15A>T) c.482-15A>T (n.482-15A>T) c.496-15A>T (n.496-15A>T) c.118-15A>T (n.118-15A>T) c.502-15A>T (n.502-15A>T) c.477-15A>T (n.477-15A>T) c.235-15A>T (n.235-15A>T) c.382-15A>T (n.382-15A>T) c.428A>T (p.His143Leu) n.873-15A>T c.421-15A>T (n.421-15A>T) c.499-15A>T (n.499-15A>T) c.610-15A>T (n.610-15A>T) c.509A>T (p.His170Leu) | |
19 | g.1106386C>A | CA9037455 | GPX4 | c.613-14C>A (n.613-14C>A) c.482-14C>A (n.482-14C>A) c.496-14C>A (n.496-14C>A) c.118-14C>A (n.118-14C>A) c.502-14C>A (n.502-14C>A) c.477-14C>A (n.477-14C>A) c.235-14C>A (n.235-14C>A) c.382-14C>A (n.382-14C>A) c.429C>A (p.His143Gln) n.873-14C>A c.421-14C>A (n.421-14C>A) c.499-14C>A (n.499-14C>A) c.610-14C>A (n.610-14C>A) c.510C>A (p.His170Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1106386C= | CA2317520627 | GPX4 | c.613-14C= (n.613-14C=) c.482-14C= (n.482-14C=) c.496-14C= (n.496-14C=) c.118-14C= (n.118-14C=) c.502-14C= (n.502-14C=) c.477-14C= (n.477-14C=) c.235-14C= (n.235-14C=) c.382-14C= (n.382-14C=) c.429C= (p.His143=) n.873-14C= c.421-14C= (n.421-14C=) c.499-14C= (n.499-14C=) c.610-14C= (n.610-14C=) c.510C= (p.His170=) | |
19 | g.1106386C>G | CA402939523 | GPX4 | c.613-14C>G (n.613-14C>G) c.482-14C>G (n.482-14C>G) c.496-14C>G (n.496-14C>G) c.118-14C>G (n.118-14C>G) c.502-14C>G (n.502-14C>G) c.477-14C>G (n.477-14C>G) c.235-14C>G (n.235-14C>G) c.382-14C>G (n.382-14C>G) c.429C>G (p.His143Gln) n.873-14C>G c.421-14C>G (n.421-14C>G) c.499-14C>G (n.499-14C>G) c.610-14C>G (n.610-14C>G) c.510C>G (p.His170Gln) | gnomAD v4 |
19 | g.1106386C>T | CA631298714 | GPX4 | c.613-14C>T (n.613-14C>T) c.482-14C>T (n.482-14C>T) c.496-14C>T (n.496-14C>T) c.118-14C>T (n.118-14C>T) c.502-14C>T (n.502-14C>T) c.477-14C>T (n.477-14C>T) c.235-14C>T (n.235-14C>T) c.382-14C>T (n.382-14C>T) c.429C>T (p.His143=) n.873-14C>T c.421-14C>T (n.421-14C>T) c.499-14C>T (n.499-14C>T) c.610-14C>T (n.610-14C>T) c.510C>T (p.His170=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1106387C>A | CA9037456 | GPX4 | c.613-13C>A (n.613-13C>A) c.482-13C>A (n.482-13C>A) c.496-13C>A (n.496-13C>A) c.118-13C>A (n.118-13C>A) c.502-13C>A (n.502-13C>A) c.477-13C>A (n.477-13C>A) c.235-13C>A (n.235-13C>A) c.382-13C>A (n.382-13C>A) c.430C>A (p.Arg144Ser) n.873-13C>A c.421-13C>A (n.421-13C>A) c.499-13C>A (n.499-13C>A) c.610-13C>A (n.610-13C>A) c.511C>A (p.Arg171Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1106387C= | CA2317520628 | GPX4 | c.613-13C= (n.613-13C=) c.482-13C= (n.482-13C=) c.496-13C= (n.496-13C=) c.118-13C= (n.118-13C=) c.502-13C= (n.502-13C=) c.477-13C= (n.477-13C=) c.235-13C= (n.235-13C=) c.382-13C= (n.382-13C=) c.430C= (p.Arg144=) n.873-13C= c.421-13C= (n.421-13C=) c.499-13C= (n.499-13C=) c.610-13C= (n.610-13C=) c.511C= (p.Arg171=) | |
19 | g.1106387C>G | CA402939529 | GPX4 | c.613-13C>G (n.613-13C>G) c.482-13C>G (n.482-13C>G) c.496-13C>G (n.496-13C>G) c.118-13C>G (n.118-13C>G) c.502-13C>G (n.502-13C>G) c.477-13C>G (n.477-13C>G) c.235-13C>G (n.235-13C>G) c.382-13C>G (n.382-13C>G) c.430C>G (p.Arg144Gly) n.873-13C>G c.421-13C>G (n.421-13C>G) c.499-13C>G (n.499-13C>G) c.610-13C>G (n.610-13C>G) c.511C>G (p.Arg171Gly) | dbSNP gnomAD v4 |
19 | g.1106387C>T | CA402939533 | GPX4 | c.613-13C>T (n.613-13C>T) c.482-13C>T (n.482-13C>T) c.496-13C>T (n.496-13C>T) c.118-13C>T (n.118-13C>T) c.502-13C>T (n.502-13C>T) c.477-13C>T (n.477-13C>T) c.235-13C>T (n.235-13C>T) c.382-13C>T (n.382-13C>T) c.430C>T (p.Arg144Cys) n.873-13C>T c.421-13C>T (n.421-13C>T) c.499-13C>T (n.499-13C>T) c.610-13C>T (n.610-13C>T) c.511C>T (p.Arg171Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106388G>A | CA9037457 | GPX4 | c.613-12G>A (n.613-12G>A) c.482-12G>A (n.482-12G>A) c.496-12G>A (n.496-12G>A) c.118-12G>A (n.118-12G>A) c.502-12G>A (n.502-12G>A) c.477-12G>A (n.477-12G>A) c.235-12G>A (n.235-12G>A) c.382-12G>A (n.382-12G>A) c.431G>A (p.Arg144His) n.873-12G>A c.421-12G>A (n.421-12G>A) c.499-12G>A (n.499-12G>A) c.610-12G>A (n.610-12G>A) c.512G>A (p.Arg171His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106388G>C | CA402939543 | GPX4 | c.613-12G>C (n.613-12G>C) c.482-12G>C (n.482-12G>C) c.496-12G>C (n.496-12G>C) c.118-12G>C (n.118-12G>C) c.502-12G>C (n.502-12G>C) c.477-12G>C (n.477-12G>C) c.235-12G>C (n.235-12G>C) c.382-12G>C (n.382-12G>C) c.431G>C (p.Arg144Pro) n.873-12G>C c.421-12G>C (n.421-12G>C) c.499-12G>C (n.499-12G>C) c.610-12G>C (n.610-12G>C) c.512G>C (p.Arg171Pro) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1106388G= | CA2317520629 | GPX4 | c.613-12G= (n.613-12G=) c.482-12G= (n.482-12G=) c.496-12G= (n.496-12G=) c.118-12G= (n.118-12G=) c.502-12G= (n.502-12G=) c.477-12G= (n.477-12G=) c.235-12G= (n.235-12G=) c.382-12G= (n.382-12G=) c.431G= (p.Arg144=) n.873-12G= c.421-12G= (n.421-12G=) c.499-12G= (n.499-12G=) c.610-12G= (n.610-12G=) c.512G= (p.Arg171=) | |
19 | g.1106388G>T | CA9037458 | GPX4 | c.613-12G>T (n.613-12G>T) c.482-12G>T (n.482-12G>T) c.496-12G>T (n.496-12G>T) c.118-12G>T (n.118-12G>T) c.502-12G>T (n.502-12G>T) c.477-12G>T (n.477-12G>T) c.235-12G>T (n.235-12G>T) c.382-12G>T (n.382-12G>T) c.431G>T (p.Arg144Leu) n.873-12G>T c.421-12G>T (n.421-12G>T) c.499-12G>T (n.499-12G>T) c.610-12G>T (n.610-12G>T) c.512G>T (p.Arg171Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1106389T>C | CA9037459 | GPX4 | c.613-11T>C (n.613-11T>C) c.482-11T>C (n.482-11T>C) c.496-11T>C (n.496-11T>C) c.118-11T>C (n.118-11T>C) c.502-11T>C (n.502-11T>C) c.477-11T>C (n.477-11T>C) c.235-11T>C (n.235-11T>C) c.382-11T>C (n.382-11T>C) c.432T>C (p.Arg144=) n.873-11T>C c.421-11T>C (n.421-11T>C) c.499-11T>C (n.499-11T>C) c.610-11T>C (n.610-11T>C) c.513T>C (p.Arg171=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1106389T= | CA2317520630 | GPX4 | c.613-11T= (n.613-11T=) c.482-11T= (n.482-11T=) c.496-11T= (n.496-11T=) c.118-11T= (n.118-11T=) c.502-11T= (n.502-11T=) c.477-11T= (n.477-11T=) c.235-11T= (n.235-11T=) c.382-11T= (n.382-11T=) c.432T= (p.Arg144=) n.873-11T= c.421-11T= (n.421-11T=) c.499-11T= (n.499-11T=) c.610-11T= (n.610-11T=) c.513T= (p.Arg171=) | |
19 | g.1106389_1106401dup | CA2588207843 | GPX4 | c.613-11_614dup c.482-11_483dup c.496-11_497dup c.118-11_119dup c.502-11_503dup c.477-11_478dup c.235-11_236dup c.382-11_383dup c.432_444dup (p.Pro149SerfsTer14) n.873-11_874dup c.421-11_422dup c.499-11_500dup c.610-11_611dup c.513_525dup (p.Pro176SerfsTer14) | gnomAD v4 |
19 | g.1106390C>A | CA402939557 | GPX4 | c.613-10C>A (n.613-10C>A) c.482-10C>A (n.482-10C>A) c.496-10C>A (n.496-10C>A) c.118-10C>A (n.118-10C>A) c.502-10C>A (n.502-10C>A) c.477-10C>A (n.477-10C>A) c.235-10C>A (n.235-10C>A) c.382-10C>A (n.382-10C>A) c.433C>A (p.Leu145Ile) n.873-10C>A c.421-10C>A (n.421-10C>A) c.499-10C>A (n.499-10C>A) c.610-10C>A (n.610-10C>A) c.514C>A (p.Leu172Ile) | |
19 | g.1106390C>G | CA402939555 | GPX4 | c.613-10C>G (n.613-10C>G) c.482-10C>G (n.482-10C>G) c.496-10C>G (n.496-10C>G) c.118-10C>G (n.118-10C>G) c.502-10C>G (n.502-10C>G) c.477-10C>G (n.477-10C>G) c.235-10C>G (n.235-10C>G) c.382-10C>G (n.382-10C>G) c.433C>G (p.Leu145Val) n.873-10C>G c.421-10C>G (n.421-10C>G) c.499-10C>G (n.499-10C>G) c.610-10C>G (n.610-10C>G) c.514C>G (p.Leu172Val) | |
19 | g.1106390C>T | CA402939559 | GPX4 | c.613-10C>T (n.613-10C>T) c.482-10C>T (n.482-10C>T) c.496-10C>T (n.496-10C>T) c.118-10C>T (n.118-10C>T) c.502-10C>T (n.502-10C>T) c.477-10C>T (n.477-10C>T) c.235-10C>T (n.235-10C>T) c.382-10C>T (n.382-10C>T) c.433C>T (p.Leu145Phe) n.873-10C>T c.421-10C>T (n.421-10C>T) c.499-10C>T (n.499-10C>T) c.610-10C>T (n.610-10C>T) c.514C>T (p.Leu172Phe) | gnomAD v4 |
19 | g.1106391T>A | CA402939560 | GPX4 | c.613-9T>A (n.613-9T>A) c.482-9T>A (n.482-9T>A) c.496-9T>A (n.496-9T>A) c.118-9T>A (n.118-9T>A) c.502-9T>A (n.502-9T>A) c.477-9T>A (n.477-9T>A) c.235-9T>A (n.235-9T>A) c.382-9T>A (n.382-9T>A) c.434T>A (p.Leu145His) n.873-9T>A c.421-9T>A (n.421-9T>A) c.499-9T>A (n.499-9T>A) c.610-9T>A (n.610-9T>A) c.515T>A (p.Leu172His) | |
19 | g.1106391T>C | CA402939563 | GPX4 | c.613-9T>C (n.613-9T>C) c.482-9T>C (n.482-9T>C) c.496-9T>C (n.496-9T>C) c.118-9T>C (n.118-9T>C) c.502-9T>C (n.502-9T>C) c.477-9T>C (n.477-9T>C) c.235-9T>C (n.235-9T>C) c.382-9T>C (n.382-9T>C) c.434T>C (p.Leu145Pro) n.873-9T>C c.421-9T>C (n.421-9T>C) c.499-9T>C (n.499-9T>C) c.610-9T>C (n.610-9T>C) c.515T>C (p.Leu172Pro) | |
19 | g.1106391T>G | CA402939562 | GPX4 | c.613-9T>G (n.613-9T>G) c.482-9T>G (n.482-9T>G) c.496-9T>G (n.496-9T>G) c.118-9T>G (n.118-9T>G) c.502-9T>G (n.502-9T>G) c.477-9T>G (n.477-9T>G) c.235-9T>G (n.235-9T>G) c.382-9T>G (n.382-9T>G) c.434T>G (p.Leu145Arg) n.873-9T>G c.421-9T>G (n.421-9T>G) c.499-9T>G (n.499-9T>G) c.610-9T>G (n.610-9T>G) c.515T>G (p.Leu172Arg) | |
19 | g.1106392C>A | CA2588207846 | GPX4 | c.613-8C>A (n.613-8C>A) c.482-8C>A (n.482-8C>A) c.496-8C>A (n.496-8C>A) c.118-8C>A (n.118-8C>A) c.502-8C>A (n.502-8C>A) c.477-8C>A (n.477-8C>A) c.235-8C>A (n.235-8C>A) c.382-8C>A (n.382-8C>A) c.435C>A (p.Leu145=) n.873-8C>A c.421-8C>A (n.421-8C>A) c.499-8C>A (n.499-8C>A) c.610-8C>A (n.610-8C>A) c.516C>A (p.Leu172=) | gnomAD v4 |
19 | g.1106392C>G | CA2588207845 | GPX4 | c.613-8C>G (n.613-8C>G) c.482-8C>G (n.482-8C>G) c.496-8C>G (n.496-8C>G) c.118-8C>G (n.118-8C>G) c.502-8C>G (n.502-8C>G) c.477-8C>G (n.477-8C>G) c.235-8C>G (n.235-8C>G) c.382-8C>G (n.382-8C>G) c.435C>G (p.Leu145=) n.873-8C>G c.421-8C>G (n.421-8C>G) c.499-8C>G (n.499-8C>G) c.610-8C>G (n.610-8C>G) c.516C>G (p.Leu172=) | gnomAD v4 |
19 | g.1106392C>T | CA2588207844 | GPX4 | c.613-8C>T (n.613-8C>T) c.482-8C>T (n.482-8C>T) c.496-8C>T (n.496-8C>T) c.118-8C>T (n.118-8C>T) c.502-8C>T (n.502-8C>T) c.477-8C>T (n.477-8C>T) c.235-8C>T (n.235-8C>T) c.382-8C>T (n.382-8C>T) c.435C>T (p.Leu145=) n.873-8C>T c.421-8C>T (n.421-8C>T) c.499-8C>T (n.499-8C>T) c.610-8C>T (n.610-8C>T) c.516C>T (p.Leu172=) | gnomAD v4 |
19 | g.1106393T>A | CA402939565 | GPX4 | c.613-7T>A (n.613-7T>A) c.482-7T>A (n.482-7T>A) c.496-7T>A (n.496-7T>A) c.118-7T>A (n.118-7T>A) c.502-7T>A (n.502-7T>A) c.477-7T>A (n.477-7T>A) c.235-7T>A (n.235-7T>A) c.382-7T>A (n.382-7T>A) c.436T>A (p.Ser146Thr) n.873-7T>A c.421-7T>A (n.421-7T>A) c.499-7T>A (n.499-7T>A) c.610-7T>A (n.610-7T>A) c.517T>A (p.Ser173Thr) | |
19 | g.1106393T>C | CA402939568 | GPX4 | c.613-7T>C (n.613-7T>C) c.482-7T>C (n.482-7T>C) c.496-7T>C (n.496-7T>C) c.118-7T>C (n.118-7T>C) c.502-7T>C (n.502-7T>C) c.477-7T>C (n.477-7T>C) c.235-7T>C (n.235-7T>C) c.382-7T>C (n.382-7T>C) c.436T>C (p.Ser146Pro) n.873-7T>C c.421-7T>C (n.421-7T>C) c.499-7T>C (n.499-7T>C) c.610-7T>C (n.610-7T>C) c.517T>C (p.Ser173Pro) | |
19 | g.1106393T>G | CA402939566 | GPX4 | c.613-7T>G (n.613-7T>G) c.482-7T>G (n.482-7T>G) c.496-7T>G (n.496-7T>G) c.118-7T>G (n.118-7T>G) c.502-7T>G (n.502-7T>G) c.477-7T>G (n.477-7T>G) c.235-7T>G (n.235-7T>G) c.382-7T>G (n.382-7T>G) c.436T>G (p.Ser146Ala) n.873-7T>G c.421-7T>G (n.421-7T>G) c.499-7T>G (n.499-7T>G) c.610-7T>G (n.610-7T>G) c.517T>G (p.Ser173Ala) | |
19 | g.1106394C>A | CA402939570 | GPX4 | c.613-6C>A (n.613-6C>A) c.482-6C>A (n.482-6C>A) c.496-6C>A (n.496-6C>A) c.118-6C>A (n.118-6C>A) c.502-6C>A (n.502-6C>A) c.477-6C>A (n.477-6C>A) c.235-6C>A (n.235-6C>A) c.382-6C>A (n.382-6C>A) c.437C>A (p.Ser146Tyr) n.873-6C>A c.421-6C>A (n.421-6C>A) c.499-6C>A (n.499-6C>A) c.610-6C>A (n.610-6C>A) c.518C>A (p.Ser173Tyr) | |
19 | g.1106394C= | CA2317520631 | GPX4 | c.613-6C= (n.613-6C=) c.482-6C= (n.482-6C=) c.496-6C= (n.496-6C=) c.118-6C= (n.118-6C=) c.502-6C= (n.502-6C=) c.477-6C= (n.477-6C=) c.235-6C= (n.235-6C=) c.382-6C= (n.382-6C=) c.437C= (p.Ser146=) n.873-6C= c.421-6C= (n.421-6C=) c.499-6C= (n.499-6C=) c.610-6C= (n.610-6C=) c.518C= (p.Ser173=) | |
19 | g.1106394C>G | CA9037460 | GPX4 | c.613-6C>G (n.613-6C>G) c.482-6C>G (n.482-6C>G) c.496-6C>G (n.496-6C>G) c.118-6C>G (n.118-6C>G) c.502-6C>G (n.502-6C>G) c.477-6C>G (n.477-6C>G) c.235-6C>G (n.235-6C>G) c.382-6C>G (n.382-6C>G) c.437C>G (p.Ser146Cys) n.873-6C>G c.421-6C>G (n.421-6C>G) c.499-6C>G (n.499-6C>G) c.610-6C>G (n.610-6C>G) c.518C>G (p.Ser173Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1106394C>T | CA402939574 | GPX4 | c.613-6C>T (n.613-6C>T) c.482-6C>T (n.482-6C>T) c.496-6C>T (n.496-6C>T) c.118-6C>T (n.118-6C>T) c.502-6C>T (n.502-6C>T) c.477-6C>T (n.477-6C>T) c.235-6C>T (n.235-6C>T) c.382-6C>T (n.382-6C>T) c.437C>T (p.Ser146Phe) n.873-6C>T c.421-6C>T (n.421-6C>T) c.499-6C>T (n.499-6C>T) c.610-6C>T (n.610-6C>T) c.518C>T (p.Ser173Phe) | |
19 | g.1106394_1106396delinsCCA | CA2317520632 | GPX4 | c.613-6_613-4delinsCCA (n.613-6_613-4delinsCCA) c.482-6_482-4delinsCCA (n.482-6_482-4delinsCCA) c.496-6_496-4delinsCCA (n.496-6_496-4delinsCCA) c.118-6_118-4delinsCCA (n.118-6_118-4delinsCCA) c.502-6_502-4delinsCCA (n.502-6_502-4delinsCCA) c.477-6_477-4delinsCCA (n.477-6_477-4delinsCCA) c.235-6_235-4delinsCCA (n.235-6_235-4delinsCCA) c.382-6_382-4delinsCCA (n.382-6_382-4delinsCCA) c.437_439delinsCCA (p.Ser146=) n.873-6_873-4delinsCCA c.421-6_421-4delinsCCA (n.421-6_421-4delinsCCA) c.499-6_499-4delinsCCA (n.499-6_499-4delinsCCA) c.610-6_610-4delinsCCA (n.610-6_610-4delinsCCA) c.518_520delinsCCA (p.Ser173=) | |
19 | g.1106395C= | CA2317520633 | GPX4 | c.613-5C= (n.613-5C=) c.482-5C= (n.482-5C=) c.496-5C= (n.496-5C=) c.118-5C= (n.118-5C=) c.502-5C= (n.502-5C=) c.477-5C= (n.477-5C=) c.235-5C= (n.235-5C=) c.382-5C= (n.382-5C=) c.438C= (p.Ser146=) n.873-5C= c.421-5C= (n.421-5C=) c.499-5C= (n.499-5C=) c.610-5C= (n.610-5C=) c.519C= (p.Ser173=) | |
19 | g.1106395C>T | CA2317520634 | GPX4 | c.613-5C>T (n.613-5C>T) c.482-5C>T (n.482-5C>T) c.496-5C>T (n.496-5C>T) c.118-5C>T (n.118-5C>T) c.502-5C>T (n.502-5C>T) c.477-5C>T (n.477-5C>T) c.235-5C>T (n.235-5C>T) c.382-5C>T (n.382-5C>T) c.438C>T (p.Ser146=) n.873-5C>T c.421-5C>T (n.421-5C>T) c.499-5C>T (n.499-5C>T) c.610-5C>T (n.610-5C>T) c.519C>T (p.Ser173=) | dbSNP gnomAD v4 |
19 | g.1106397_1106398del | CA631298717 | GPX4 | c.613-3_613-2del (n.613-3_613-2del) c.482-3_482-2del (n.482-3_482-2del) c.496-3_496-2del (n.496-3_496-2del) c.118-3_118-2del (n.118-3_118-2del) c.502-3_502-2del (n.502-3_502-2del) c.477-3_477-2del (n.477-3_477-2del) c.235-3_235-2del (n.235-3_235-2del) c.382-3_382-2del (n.382-3_382-2del) c.440_441del (p.Thr147SerfsTer11) n.873-3_873-2del c.421-3_421-2del (n.421-3_421-2del) c.499-3_499-2del (n.499-3_499-2del) c.610-3_610-2del (n.610-3_610-2del) c.521_522del (p.Thr174SerfsTer11) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1106396A= | CA2317520636 | GPX4 | c.613-4A= (n.613-4A=) c.482-4A= (n.482-4A=) c.496-4A= (n.496-4A=) c.118-4A= (n.118-4A=) c.502-4A= (n.502-4A=) c.477-4A= (n.477-4A=) c.235-4A= (n.235-4A=) c.382-4A= (n.382-4A=) c.439A= (p.Thr147=) n.873-4A= c.421-4A= (n.421-4A=) c.499-4A= (n.499-4A=) c.610-4A= (n.610-4A=) c.520A= (p.Thr174=) | |
19 | g.1106396A>C | CA402939577 | GPX4 | c.613-4A>C (n.613-4A>C) c.482-4A>C (n.482-4A>C) c.496-4A>C (n.496-4A>C) c.118-4A>C (n.118-4A>C) c.502-4A>C (n.502-4A>C) c.477-4A>C (n.477-4A>C) c.235-4A>C (n.235-4A>C) c.382-4A>C (n.382-4A>C) c.439A>C (p.Thr147Pro) n.873-4A>C c.421-4A>C (n.421-4A>C) c.499-4A>C (n.499-4A>C) c.610-4A>C (n.610-4A>C) c.520A>C (p.Thr174Pro) | |
19 | g.1106396A>G | CA402939581 | GPX4 | c.613-4A>G (n.613-4A>G) c.482-4A>G (n.482-4A>G) c.496-4A>G (n.496-4A>G) c.118-4A>G (n.118-4A>G) c.502-4A>G (n.502-4A>G) c.477-4A>G (n.477-4A>G) c.235-4A>G (n.235-4A>G) c.382-4A>G (n.382-4A>G) c.439A>G (p.Thr147Ala) n.873-4A>G c.421-4A>G (n.421-4A>G) c.499-4A>G (n.499-4A>G) c.610-4A>G (n.610-4A>G) c.520A>G (p.Thr174Ala) | dbSNP gnomAD v2 |
19 | g.1106396A>T | CA402939583 | GPX4 | c.613-4A>T (n.613-4A>T) c.482-4A>T (n.482-4A>T) c.496-4A>T (n.496-4A>T) c.118-4A>T (n.118-4A>T) c.502-4A>T (n.502-4A>T) c.477-4A>T (n.477-4A>T) c.235-4A>T (n.235-4A>T) c.382-4A>T (n.382-4A>T) c.439A>T (p.Thr147Ser) n.873-4A>T c.421-4A>T (n.421-4A>T) c.499-4A>T (n.499-4A>T) c.610-4A>T (n.610-4A>T) c.520A>T (p.Thr174Ser) | |
19 | g.1106396_1106404delinsACAGTTCCT | CA2317520635 | GPX4 | c.613-4_617delinsACAGTTCCT c.482-4_486delinsACAGTTCCT c.496-4_500delinsACAGTTCCT c.118-4_122delinsACAGTTCCT c.502-4_506delinsACAGTTCCT c.477-4_481delinsACAGTTCCT c.235-4_239delinsACAGTTCCT c.382-4_386delinsACAGTTCCT c.439_447delinsACAGTTCCT (p.Thr147=) n.873-4_877delinsACAGTTCCT c.421-4_425delinsACAGTTCCT c.499-4_503delinsACAGTTCCT c.610-4_614delinsACAGTTCCT c.520_528delinsACAGTTCCT (p.Thr174=) | |
19 | g.1106397C>A | CA402939585 | GPX4 | c.613-3C>A (n.613-3C>A) c.482-3C>A (n.482-3C>A) c.496-3C>A (n.496-3C>A) c.118-3C>A (n.118-3C>A) c.502-3C>A (n.502-3C>A) c.477-3C>A (n.477-3C>A) c.235-3C>A (n.235-3C>A) c.382-3C>A (n.382-3C>A) c.440C>A (p.Thr147Lys) n.873-3C>A c.421-3C>A (n.421-3C>A) c.499-3C>A (n.499-3C>A) c.610-3C>A (n.610-3C>A) c.521C>A (p.Thr174Lys) | |
19 | g.1106397C>G | CA402939589 | GPX4 | c.613-3C>G (n.613-3C>G) c.482-3C>G (n.482-3C>G) c.496-3C>G (n.496-3C>G) c.118-3C>G (n.118-3C>G) c.502-3C>G (n.502-3C>G) c.477-3C>G (n.477-3C>G) c.235-3C>G (n.235-3C>G) c.382-3C>G (n.382-3C>G) c.440C>G (p.Thr147Arg) n.873-3C>G c.421-3C>G (n.421-3C>G) c.499-3C>G (n.499-3C>G) c.610-3C>G (n.610-3C>G) c.521C>G (p.Thr174Arg) | |
19 | g.1106397C>T | CA402939591 | GPX4 | c.613-3C>T (n.613-3C>T) c.482-3C>T (n.482-3C>T) c.496-3C>T (n.496-3C>T) c.118-3C>T (n.118-3C>T) c.502-3C>T (n.502-3C>T) c.477-3C>T (n.477-3C>T) c.235-3C>T (n.235-3C>T) c.382-3C>T (n.382-3C>T) c.440C>T (p.Thr147Ile) n.873-3C>T c.421-3C>T (n.421-3C>T) c.499-3C>T (n.499-3C>T) c.610-3C>T (n.610-3C>T) c.521C>T (p.Thr174Ile) | gnomAD v4 |
19 | g.1106399_1106406del | CA2317520637 | GPX4 | c.613-1_619del c.482-1_488del c.496-1_502del c.118-1_124del c.502-1_508del c.477-1_483del c.235-1_241del c.382-1_388del c.442_449del (p.Val148SerfsTer8) n.873-1_879del c.421-1_427del c.499-1_505del c.610-1_616del c.523_530del (p.Val175SerfsTer8) | ClinVar dbSNP gnomAD v4 |
19 | g.1106398A>C | CA402939594 | GPX4 | c.613-2A>C (n.613-2A>C) c.482-2A>C (n.482-2A>C) c.496-2A>C (n.496-2A>C) c.118-2A>C (n.118-2A>C) c.502-2A>C (n.502-2A>C) c.477-2A>C (n.477-2A>C) c.235-2A>C (n.235-2A>C) c.382-2A>C (n.382-2A>C) c.441A>C (p.Thr147=) n.873-2A>C c.421-2A>C (n.421-2A>C) c.499-2A>C (n.499-2A>C) c.610-2A>C (n.610-2A>C) c.522A>C (p.Thr174=) | |
19 | g.1106398A>G | CA402939598 | GPX4 | c.613-2A>G (n.613-2A>G) c.482-2A>G (n.482-2A>G) c.496-2A>G (n.496-2A>G) c.118-2A>G (n.118-2A>G) c.502-2A>G (n.502-2A>G) c.477-2A>G (n.477-2A>G) c.235-2A>G (n.235-2A>G) c.382-2A>G (n.382-2A>G) c.441A>G (p.Thr147=) n.873-2A>G c.421-2A>G (n.421-2A>G) c.499-2A>G (n.499-2A>G) c.610-2A>G (n.610-2A>G) c.522A>G (p.Thr174=) | gnomAD v4 |
19 | g.1106398A>T | CA402939600 | GPX4 | c.613-2A>T (n.613-2A>T) c.482-2A>T (n.482-2A>T) c.496-2A>T (n.496-2A>T) c.118-2A>T (n.118-2A>T) c.502-2A>T (n.502-2A>T) c.477-2A>T (n.477-2A>T) c.235-2A>T (n.235-2A>T) c.382-2A>T (n.382-2A>T) c.441A>T (p.Thr147=) n.873-2A>T c.421-2A>T (n.421-2A>T) c.499-2A>T (n.499-2A>T) c.610-2A>T (n.610-2A>T) c.522A>T (p.Thr174=) | |
19 | g.1106398_1106399delinsAG | CA2317520638 | GPX4 | c.613-2_613-1delinsAG (n.613-2_613-1delinsAG) c.482-2_482-1delinsAG (n.482-2_482-1delinsAG) c.496-2_496-1delinsAG (n.496-2_496-1delinsAG) c.118-2_118-1delinsAG (n.118-2_118-1delinsAG) c.502-2_502-1delinsAG (n.502-2_502-1delinsAG) c.477-2_477-1delinsAG (n.477-2_477-1delinsAG) c.235-2_235-1delinsAG (n.235-2_235-1delinsAG) c.382-2_382-1delinsAG (n.382-2_382-1delinsAG) c.441_442delinsAG (p.Thr147=) n.873-2_873-1delinsAG c.421-2_421-1delinsAG (n.421-2_421-1delinsAG) c.499-2_499-1delinsAG (n.499-2_499-1delinsAG) c.610-2_610-1delinsAG (n.610-2_610-1delinsAG) c.522_523delinsAG (p.Thr174=) | |
19 | g.1106399del | CA658658763 | GPX4 | c.613-1del (n.613-1del) c.482-1del (n.482-1del) c.496-1del (n.496-1del) c.118-1del (n.118-1del) c.502-1del (n.502-1del) c.477-1del (n.477-1del) c.235-1del (n.235-1del) c.382-1del (n.382-1del) c.442del (p.Val148PhefsTer?) n.873-1del c.421-1del (n.421-1del) c.499-1del (n.499-1del) c.610-1del (n.610-1del) c.523del (p.Val175PhefsTer?) | ClinVar dbSNP |
19 | g.1106399G>A | CA402939601 | GPX4 | c.613-1G>A (n.613-1G>A) c.482-1G>A (n.482-1G>A) c.496-1G>A (n.496-1G>A) c.118-1G>A (n.118-1G>A) c.502-1G>A (n.502-1G>A) c.477-1G>A (n.477-1G>A) c.235-1G>A (n.235-1G>A) c.382-1G>A (n.382-1G>A) c.442G>A (p.Val148Ile) n.873-1G>A c.421-1G>A (n.421-1G>A) c.499-1G>A (n.499-1G>A) c.610-1G>A (n.610-1G>A) c.523G>A (p.Val175Ile) | |
19 | g.1106399G>C | CA402939606 | GPX4 | c.613-1G>C (n.613-1G>C) c.482-1G>C (n.482-1G>C) c.496-1G>C (n.496-1G>C) c.118-1G>C (n.118-1G>C) c.502-1G>C (n.502-1G>C) c.477-1G>C (n.477-1G>C) c.235-1G>C (n.235-1G>C) c.382-1G>C (n.382-1G>C) c.442G>C (p.Val148Leu) n.873-1G>C c.421-1G>C (n.421-1G>C) c.499-1G>C (n.499-1G>C) c.610-1G>C (n.610-1G>C) c.523G>C (p.Val175Leu) | |
19 | g.1106399G>T | CA402939604 | GPX4 | c.613-1G>T (n.613-1G>T) c.482-1G>T (n.482-1G>T) c.496-1G>T (n.496-1G>T) c.118-1G>T (n.118-1G>T) c.502-1G>T (n.502-1G>T) c.477-1G>T (n.477-1G>T) c.235-1G>T (n.235-1G>T) c.382-1G>T (n.382-1G>T) c.442G>T (p.Val148Phe) n.873-1G>T c.421-1G>T (n.421-1G>T) c.499-1G>T (n.499-1G>T) c.610-1G>T (n.610-1G>T) c.523G>T (p.Val175Phe) | |
19 | g.1106400T>A | CA402939608 | GPX4 | c.613T>A (p.Phe205Ile) c.482T>A (p.Val161Asp) c.496T>A (p.Phe166Ile) c.118T>A (p.Phe40Ile) c.502T>A (p.Phe168Ile) c.477T>A (p.Asn159Lys) c.235T>A (p.Phe79Ile) c.382T>A (p.Phe128Ile) c.443T>A (p.Val148Asp) n.873T>A c.421T>A (p.Phe141Ile) c.499T>A (p.Phe167Ile) c.610T>A (p.Phe204Ile) c.524T>A (p.Val175Asp) | |
19 | g.1106400T>C | CA402939611 | GPX4 | c.613T>C (p.Phe205Leu) c.482T>C (p.Val161Ala) c.496T>C (p.Phe166Leu) c.118T>C (p.Phe40Leu) c.502T>C (p.Phe168Leu) c.477T>C (p.Asn159=) c.235T>C (p.Phe79Leu) c.382T>C (p.Phe128Leu) c.443T>C (p.Val148Ala) n.873T>C c.421T>C (p.Phe141Leu) c.499T>C (p.Phe167Leu) c.610T>C (p.Phe204Leu) c.524T>C (p.Val175Ala) | |
19 | g.1106400T>G | CA402939614 | GPX4 | c.613T>G (p.Phe205Val) c.482T>G (p.Val161Gly) c.496T>G (p.Phe166Val) c.118T>G (p.Phe40Val) c.502T>G (p.Phe168Val) c.477T>G (p.Asn159Lys) c.235T>G (p.Phe79Val) c.382T>G (p.Phe128Val) c.443T>G (p.Val148Gly) n.873T>G c.421T>G (p.Phe141Val) c.499T>G (p.Phe167Val) c.610T>G (p.Phe204Val) c.524T>G (p.Val175Gly) | |
19 | g.1106401T>A | CA402939621 | GPX4 | c.614T>A (p.Phe205Tyr) c.483T>A (p.Val161=) c.497T>A (p.Phe166Tyr) c.119T>A (p.Phe40Tyr) c.503T>A (p.Phe168Tyr) c.478T>A (p.Ser160Thr) c.236T>A (p.Phe79Tyr) c.383T>A (p.Phe128Tyr) c.444T>A (p.Val148=) n.874T>A c.422T>A (p.Phe141Tyr) c.500T>A (p.Phe167Tyr) c.611T>A (p.Phe204Tyr) c.525T>A (p.Val175=) | |
19 | g.1106401T>C | CA402939622 | GPX4 | c.614T>C (p.Phe205Ser) c.483T>C (p.Val161=) c.497T>C (p.Phe166Ser) c.119T>C (p.Phe40Ser) c.503T>C (p.Phe168Ser) c.478T>C (p.Ser160Pro) c.236T>C (p.Phe79Ser) c.383T>C (p.Phe128Ser) c.444T>C (p.Val148=) n.874T>C c.422T>C (p.Phe141Ser) c.500T>C (p.Phe167Ser) c.611T>C (p.Phe204Ser) c.525T>C (p.Val175=) | |
19 | g.1106401T>G | CA402939625 | GPX4 | c.614T>G (p.Phe205Cys) c.483T>G (p.Val161=) c.497T>G (p.Phe166Cys) c.119T>G (p.Phe40Cys) c.503T>G (p.Phe168Cys) c.478T>G (p.Ser160Ala) c.236T>G (p.Phe79Cys) c.383T>G (p.Phe128Cys) c.444T>G (p.Val148=) n.874T>G c.422T>G (p.Phe141Cys) c.500T>G (p.Phe167Cys) c.611T>G (p.Phe204Cys) c.525T>G (p.Val175=) | |
19 | g.1106402C>A | CA402939630 | GPX4 | c.615C>A (p.Phe205Leu) c.484C>A (p.Pro162Thr) c.498C>A (p.Phe166Leu) c.120C>A (p.Phe40Leu) c.504C>A (p.Phe168Leu) c.479C>A (p.Ser160Tyr) c.237C>A (p.Phe79Leu) c.384C>A (p.Phe128Leu) c.445C>A (p.Pro149Thr) n.875C>A c.423C>A (p.Phe141Leu) c.501C>A (p.Phe167Leu) c.612C>A (p.Phe204Leu) c.526C>A (p.Pro176Thr) | gnomAD v4 |
19 | g.1106402C= | CA2317520639 | GPX4 | c.615C= (p.Phe205=) c.484C= (p.Pro162=) c.498C= (p.Phe166=) c.120C= (p.Phe40=) c.504C= (p.Phe168=) c.479C= (p.Ser160=) c.237C= (p.Phe79=) c.384C= (p.Phe128=) c.445C= (p.Pro149=) n.875C= c.423C= (p.Phe141=) c.501C= (p.Phe167=) c.612C= (p.Phe204=) c.526C= (p.Pro176=) | |
19 | g.1106402C>G | CA402939634 | GPX4 | c.615C>G (p.Phe205Leu) c.484C>G (p.Pro162Ala) c.498C>G (p.Phe166Leu) c.120C>G (p.Phe40Leu) c.504C>G (p.Phe168Leu) c.479C>G (p.Ser160Cys) c.237C>G (p.Phe79Leu) c.384C>G (p.Phe128Leu) c.445C>G (p.Pro149Ala) n.875C>G c.423C>G (p.Phe141Leu) c.501C>G (p.Phe167Leu) c.612C>G (p.Phe204Leu) c.526C>G (p.Pro176Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1106402C>T | CA303994791 | GPX4 | c.615C>T (p.Phe205=) c.484C>T (p.Pro162Ser) c.498C>T (p.Phe166=) c.120C>T (p.Phe40=) c.504C>T (p.Phe168=) c.479C>T (p.Ser160Phe) c.237C>T (p.Phe79=) c.384C>T (p.Phe128=) c.445C>T (p.Pro149Ser) n.875C>T c.423C>T (p.Phe141=) c.501C>T (p.Phe167=) c.612C>T (p.Phe204=) c.526C>T (p.Pro176Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106403C>A | CA9037462 | GPX4 | c.616C>A (p.Leu206Ile) c.485C>A (p.Pro162His) c.499C>A (p.Leu167Ile) c.121C>A (p.Leu41Ile) c.505C>A (p.Leu169Ile) c.480C>A (p.Ser160=) c.238C>A (p.Leu80Ile) c.385C>A (p.Leu129Ile) c.446C>A (p.Pro149His) n.876C>A c.424C>A (p.Leu142Ile) c.502C>A (p.Leu168Ile) c.613C>A (p.Leu205Ile) c.527C>A (p.Pro176His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1106403C= | CA2317520641 | GPX4 | c.616C= (p.Leu206=) c.485C= (p.Pro162=) c.499C= (p.Leu167=) c.121C= (p.Leu41=) c.505C= (p.Leu169=) c.480C= (p.Ser160=) c.238C= (p.Leu80=) c.385C= (p.Leu129=) c.446C= (p.Pro149=) n.876C= c.424C= (p.Leu142=) c.502C= (p.Leu168=) c.613C= (p.Leu205=) c.527C= (p.Pro176=) | |
19 | g.1106403C>G | CA402939656 | GPX4 | c.616C>G (p.Leu206Val) c.485C>G (p.Pro162Arg) c.499C>G (p.Leu167Val) c.121C>G (p.Leu41Val) c.505C>G (p.Leu169Val) c.480C>G (p.Ser160=) c.238C>G (p.Leu80Val) c.385C>G (p.Leu129Val) c.446C>G (p.Pro149Arg) n.876C>G c.424C>G (p.Leu142Val) c.502C>G (p.Leu168Val) c.613C>G (p.Leu205Val) c.527C>G (p.Pro176Arg) | |
19 | g.1106403C>T | CA402939648 | GPX4 | c.616C>T (p.Leu206Phe) c.485C>T (p.Pro162Leu) c.499C>T (p.Leu167Phe) c.121C>T (p.Leu41Phe) c.505C>T (p.Leu169Phe) c.480C>T (p.Ser160=) c.238C>T (p.Leu80Phe) c.385C>T (p.Leu129Phe) c.446C>T (p.Pro149Leu) n.876C>T c.424C>T (p.Leu142Phe) c.502C>T (p.Leu168Phe) c.613C>T (p.Leu205Phe) c.527C>T (p.Pro176Leu) | |
19 | g.1106403_1106406delinsCTCA | CA2317520640 | GPX4 | c.616_619delinsCTCA (p.Leu206=) c.485_488delinsCTCA (p.Pro162=) c.499_502delinsCTCA (p.Leu167=) c.121_124delinsCTCA (p.Leu41=) c.505_508delinsCTCA (p.Leu169=) c.480_483delinsCTCA (p.Ser160=) c.238_241delinsCTCA (p.Leu80=) c.385_388delinsCTCA (p.Leu129=) c.446_449delinsCTCA (p.Pro149=) n.876_879delinsCTCA c.424_427delinsCTCA (p.Leu142=) c.502_505delinsCTCA (p.Leu168=) c.613_616delinsCTCA (p.Leu205=) c.527_530delinsCTCA (p.Pro176=) | |
19 | g.1106404T>A | CA402939664 | GPX4 | c.617T>A (p.Leu206His) c.486T>A (p.Pro162=) c.500T>A (p.Leu167His) c.122T>A (p.Leu41His) c.506T>A (p.Leu169His) c.481T>A (p.Ser161Thr) c.239T>A (p.Leu80His) c.386T>A (p.Leu129His) c.447T>A (p.Pro149=) n.877T>A c.425T>A (p.Leu142His) c.503T>A (p.Leu168His) c.614T>A (p.Leu205His) c.528T>A (p.Pro176=) | |
19 | g.1106404T>C | CA402939667 | GPX4 | c.617T>C (p.Leu206Pro) c.486T>C (p.Pro162=) c.500T>C (p.Leu167Pro) c.122T>C (p.Leu41Pro) c.506T>C (p.Leu169Pro) c.481T>C (p.Ser161Pro) c.239T>C (p.Leu80Pro) c.386T>C (p.Leu129Pro) c.447T>C (p.Pro149=) n.877T>C c.425T>C (p.Leu142Pro) c.503T>C (p.Leu168Pro) c.614T>C (p.Leu205Pro) c.528T>C (p.Pro176=) | |
19 | g.1106404T>G | CA402939670 | GPX4 | c.617T>G (p.Leu206Arg) c.486T>G (p.Pro162=) c.500T>G (p.Leu167Arg) c.122T>G (p.Leu41Arg) c.506T>G (p.Leu169Arg) c.481T>G (p.Ser161Ala) c.239T>G (p.Leu80Arg) c.386T>G (p.Leu129Arg) c.447T>G (p.Pro149=) n.877T>G c.425T>G (p.Leu142Arg) c.503T>G (p.Leu168Arg) c.614T>G (p.Leu205Arg) c.528T>G (p.Pro176=) | |
19 | g.1106406_1106408del | CA9037461 | GPX4 | c.619_621del (p.Ile207del) c.488_490del (p.His163del) c.502_504del (p.Ile168del) c.124_126del (p.Ile42del) c.508_510del (p.Ile170del) c.483_485del (p.Ser162del) c.241_243del (p.Ile81del) c.388_390del (p.Ile130del) c.449_451del (p.His150del) n.879_881del c.427_429del (p.Ile143del) c.505_507del (p.Ile169del) c.616_618del (p.Ile206del) c.530_532del (p.His177del) | dbSNP ExAC gnomAD v4 |
19 | g.1106405C>A | CA402939674 | GPX4 | c.618C>A (p.Leu206=) c.487C>A (p.His163Asn) c.501C>A (p.Leu167=) c.123C>A (p.Leu41=) c.507C>A (p.Leu169=) c.482C>A (p.Ser161Ter) c.240C>A (p.Leu80=) c.387C>A (p.Leu129=) c.448C>A (p.His150Asn) n.878C>A c.426C>A (p.Leu142=) c.504C>A (p.Leu168=) c.615C>A (p.Leu205=) c.529C>A (p.His177Asn) | |
19 | g.1106405C>G | CA402939672 | GPX4 | c.618C>G (p.Leu206=) c.487C>G (p.His163Asp) c.501C>G (p.Leu167=) c.123C>G (p.Leu41=) c.507C>G (p.Leu169=) c.482C>G (p.Ser161Ter) c.240C>G (p.Leu80=) c.387C>G (p.Leu129=) c.448C>G (p.His150Asp) n.878C>G c.426C>G (p.Leu142=) c.504C>G (p.Leu168=) c.615C>G (p.Leu205=) c.529C>G (p.His177Asp) | |
19 | g.1106405C>T | CA402939671 | GPX4 | c.618C>T (p.Leu206=) c.487C>T (p.His163Tyr) c.501C>T (p.Leu167=) c.123C>T (p.Leu41=) c.507C>T (p.Leu169=) c.482C>T (p.Ser161Leu) c.240C>T (p.Leu80=) c.387C>T (p.Leu129=) c.448C>T (p.His150Tyr) n.878C>T c.426C>T (p.Leu142=) c.504C>T (p.Leu168=) c.615C>T (p.Leu205=) c.529C>T (p.His177Tyr) | gnomAD v4 |
19 | g.1106406A= | CA2317520642 | GPX4 | c.619A= (p.Ile207=) c.488A= (p.His163=) c.502A= (p.Ile168=) c.124A= (p.Ile42=) c.508A= (p.Ile170=) c.483A= (p.Ser161=) c.241A= (p.Ile81=) c.388A= (p.Ile130=) c.449A= (p.His150=) n.879A= c.427A= (p.Ile143=) c.505A= (p.Ile169=) c.616A= (p.Ile206=) c.530A= (p.His177=) | |
19 | g.1106406A>C | CA402939681 | GPX4 | c.619A>C (p.Ile207Leu) c.488A>C (p.His163Pro) c.502A>C (p.Ile168Leu) c.124A>C (p.Ile42Leu) c.508A>C (p.Ile170Leu) c.483A>C (p.Ser161=) c.241A>C (p.Ile81Leu) c.388A>C (p.Ile130Leu) c.449A>C (p.His150Pro) n.879A>C c.427A>C (p.Ile143Leu) c.505A>C (p.Ile169Leu) c.616A>C (p.Ile206Leu) c.530A>C (p.His177Pro) | gnomAD v4 |
19 | g.1106406A>G | CA303994815 | GPX4 | c.619A>G (p.Ile207Val) c.488A>G (p.His163Arg) c.502A>G (p.Ile168Val) c.124A>G (p.Ile42Val) c.508A>G (p.Ile170Val) c.483A>G (p.Ser161=) c.241A>G (p.Ile81Val) c.388A>G (p.Ile130Val) c.449A>G (p.His150Arg) n.879A>G c.427A>G (p.Ile143Val) c.505A>G (p.Ile169Val) c.616A>G (p.Ile206Val) c.530A>G (p.His177Arg) | dbSNP gnomAD v4 |
19 | g.1106406A>T | CA402939691 | GPX4 | c.619A>T (p.Ile207Phe) c.488A>T (p.His163Leu) c.502A>T (p.Ile168Phe) c.124A>T (p.Ile42Phe) c.508A>T (p.Ile170Phe) c.483A>T (p.Ser161=) c.241A>T (p.Ile81Phe) c.388A>T (p.Ile130Phe) c.449A>T (p.His150Leu) n.879A>T c.427A>T (p.Ile143Phe) c.505A>T (p.Ile169Phe) c.616A>T (p.Ile206Phe) c.530A>T (p.His177Leu) | |
19 | g.1106406_1106408delinsATC | CA2317520643 | GPX4 | c.619_621delinsATC (p.Ile207=) c.488_490delinsATC (p.His163=) c.502_504delinsATC (p.Ile168=) c.124_126delinsATC (p.Ile42=) c.508_510delinsATC (p.Ile170=) c.483_485delinsATC (p.Ser161=) c.241_243delinsATC (p.Ile81=) c.388_390delinsATC (p.Ile130=) c.449_451delinsATC (p.His150=) n.879_881delinsATC c.427_429delinsATC (p.Ile143=) c.505_507delinsATC (p.Ile169=) c.616_618delinsATC (p.Ile206=) c.530_532delinsATC (p.His177=) | |
19 | g.1106407T>A | CA402939697 | GPX4 | c.620T>A (p.Ile207Asn) c.489T>A (p.His163Gln) c.503T>A (p.Ile168Asn) c.125T>A (p.Ile42Asn) c.509T>A (p.Ile170Asn) c.484T>A (p.Ser162Thr) c.242T>A (p.Ile81Asn) c.389T>A (p.Ile130Asn) c.450T>A (p.His150Gln) n.880T>A c.428T>A (p.Ile143Asn) c.506T>A (p.Ile169Asn) c.617T>A (p.Ile206Asn) c.531T>A (p.His177Gln) | |
19 | g.1106407T>C | CA402939701 | GPX4 | c.620T>C (p.Ile207Thr) c.489T>C (p.His163=) c.503T>C (p.Ile168Thr) c.125T>C (p.Ile42Thr) c.509T>C (p.Ile170Thr) c.484T>C (p.Ser162Pro) c.242T>C (p.Ile81Thr) c.389T>C (p.Ile130Thr) c.450T>C (p.His150=) n.880T>C c.428T>C (p.Ile143Thr) c.506T>C (p.Ile169Thr) c.617T>C (p.Ile206Thr) c.531T>C (p.His177=) | gnomAD v4 |
19 | g.1106407T>G | CA402939706 | GPX4 | c.620T>G (p.Ile207Ser) c.489T>G (p.His163Gln) c.503T>G (p.Ile168Ser) c.125T>G (p.Ile42Ser) c.509T>G (p.Ile170Ser) c.484T>G (p.Ser162Ala) c.242T>G (p.Ile81Ser) c.389T>G (p.Ile130Ser) c.450T>G (p.His150Gln) n.880T>G c.428T>G (p.Ile143Ser) c.506T>G (p.Ile169Ser) c.617T>G (p.Ile206Ser) c.531T>G (p.His177Gln) | |
19 | g.1106407_1106408del | CA1139666154 | GPX4 | c.620_621del (p.Ile207ArgfsTer?) c.489_490del (p.His163GlnfsTer8) c.503_504del (p.Ile168ArgfsTer?) c.125_126del (p.Ile42ArgfsTer?) c.509_510del (p.Ile170ArgfsTer?) c.484_485del (p.Ser162AspfsTer28) c.242_243del (p.Ile81ArgfsTer?) c.389_390del (p.Ile130ArgfsTer?) c.450_451del (p.His150GlnfsTer8) n.880_881del c.428_429del (p.Ile143ArgfsTer?) c.506_507del (p.Ile169ArgfsTer?) c.617_618del (p.Ile206ArgfsTer?) c.531_532del (p.His177GlnfsTer8) | ClinVar dbSNP |
19 | g.1106408C>A | CA402939713 | GPX4 | c.621C>A (p.Ile207=) c.490C>A (p.Arg164=) c.504C>A (p.Ile168=) c.126C>A (p.Ile42=) c.510C>A (p.Ile170=) c.485C>A (p.Ser162Ter) c.243C>A (p.Ile81=) c.390C>A (p.Ile130=) c.451C>A (p.Arg151=) n.881C>A c.429C>A (p.Ile143=) c.507C>A (p.Ile169=) c.618C>A (p.Ile206=) c.532C>A (p.Arg178=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1106408C= | CA2317520644 | GPX4 | c.621C= (p.Ile207=) c.490C= (p.Arg164=) c.504C= (p.Ile168=) c.126C= (p.Ile42=) c.510C= (p.Ile170=) c.485C= (p.Ser162=) c.243C= (p.Ile81=) c.390C= (p.Ile130=) c.451C= (p.Arg151=) n.881C= c.429C= (p.Ile143=) c.507C= (p.Ile169=) c.618C= (p.Ile206=) c.532C= (p.Arg178=) | |
19 | g.1106408C>G | CA9037464 | GPX4 | c.621C>G (p.Ile207Met) c.490C>G (p.Arg164Gly) c.504C>G (p.Ile168Met) c.126C>G (p.Ile42Met) c.510C>G (p.Ile170Met) c.485C>G (p.Ser162Trp) c.243C>G (p.Ile81Met) c.390C>G (p.Ile130Met) c.451C>G (p.Arg151Gly) n.881C>G c.429C>G (p.Ile143Met) c.507C>G (p.Ile169Met) c.618C>G (p.Ile206Met) c.532C>G (p.Arg178Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1106408C>T | CA9037463 | GPX4 | c.621C>T (p.Ile207=) c.490C>T (p.Arg164Ter) c.504C>T (p.Ile168=) c.126C>T (p.Ile42=) c.510C>T (p.Ile170=) c.485C>T (p.Ser162Leu) c.243C>T (p.Ile81=) c.390C>T (p.Ile130=) c.451C>T (p.Arg151Ter) n.881C>T c.429C>T (p.Ile143=) c.507C>T (p.Ile169=) c.618C>T (p.Ile206=) c.532C>T (p.Arg178Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.1106409G>A | CA9037466 | GPX4 | c.622G>A (p.Asp208Asn) c.491G>A (p.Arg164Gln) c.505G>A (p.Asp169Asn) c.127G>A (p.Asp43Asn) c.511G>A (p.Asp171Asn) c.486G>A (p.Ser162=) c.244G>A (p.Asp82Asn) c.391G>A (p.Asp131Asn) c.452G>A (p.Arg151Gln) n.882G>A c.430G>A (p.Asp144Asn) c.508G>A (p.Asp170Asn) c.619G>A (p.Asp207Asn) c.533G>A (p.Arg178Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106409G>C | CA9037465 | GPX4 | c.622G>C (p.Asp208His) c.491G>C (p.Arg164Pro) c.505G>C (p.Asp169His) c.127G>C (p.Asp43His) c.511G>C (p.Asp171His) c.486G>C (p.Ser162=) c.244G>C (p.Asp82His) c.391G>C (p.Asp131His) c.452G>C (p.Arg151Pro) n.882G>C c.430G>C (p.Asp144His) c.508G>C (p.Asp170His) c.619G>C (p.Asp207His) c.533G>C (p.Arg178Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1106409G= | CA2317520645 | GPX4 | c.622G= (p.Asp208=) c.491G= (p.Arg164=) c.505G= (p.Asp169=) c.127G= (p.Asp43=) c.511G= (p.Asp171=) c.486G= (p.Ser162=) c.244G= (p.Asp82=) c.391G= (p.Asp131=) c.452G= (p.Arg151=) n.882G= c.430G= (p.Asp144=) c.508G= (p.Asp170=) c.619G= (p.Asp207=) c.533G= (p.Arg178=) | |
19 | g.1106409G>T | CA402939732 | GPX4 | c.622G>T (p.Asp208Tyr) c.491G>T (p.Arg164Leu) c.505G>T (p.Asp169Tyr) c.127G>T (p.Asp43Tyr) c.511G>T (p.Asp171Tyr) c.486G>T (p.Ser162=) c.244G>T (p.Asp82Tyr) c.391G>T (p.Asp131Tyr) c.452G>T (p.Arg151Leu) n.882G>T c.430G>T (p.Asp144Tyr) c.508G>T (p.Asp170Tyr) c.619G>T (p.Asp207Tyr) c.533G>T (p.Arg178Leu) | gnomAD v4 |
19 | g.1106410A= | CA2317520646 | GPX4 | c.623A= (p.Asp208=) c.492A= (p.Arg164=) c.506A= (p.Asp169=) c.128A= (p.Asp43=) c.512A= (p.Asp171=) c.487A= (p.Thr163=) c.245A= (p.Asp82=) c.392A= (p.Asp131=) c.453A= (p.Arg151=) n.883A= c.431A= (p.Asp144=) c.509A= (p.Asp170=) c.620A= (p.Asp207=) c.534A= (p.Arg178=) | |
19 | g.1106410A>C | CA402939736 | GPX4 | c.623A>C (p.Asp208Ala) c.492A>C (p.Arg164=) c.506A>C (p.Asp169Ala) c.128A>C (p.Asp43Ala) c.512A>C (p.Asp171Ala) c.487A>C (p.Thr163Pro) c.245A>C (p.Asp82Ala) c.392A>C (p.Asp131Ala) c.453A>C (p.Arg151=) n.883A>C c.431A>C (p.Asp144Ala) c.509A>C (p.Asp170Ala) c.620A>C (p.Asp207Ala) c.534A>C (p.Arg178=) | |
19 | g.1106410A>G | CA9037467 | GPX4 | c.623A>G (p.Asp208Gly) c.492A>G (p.Arg164=) c.506A>G (p.Asp169Gly) c.128A>G (p.Asp43Gly) c.512A>G (p.Asp171Gly) c.487A>G (p.Thr163Ala) c.245A>G (p.Asp82Gly) c.392A>G (p.Asp131Gly) c.453A>G (p.Arg151=) n.883A>G c.431A>G (p.Asp144Gly) c.509A>G (p.Asp170Gly) c.620A>G (p.Asp207Gly) c.534A>G (p.Arg178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106410A>T | CA402939742 | GPX4 | c.623A>T (p.Asp208Val) c.492A>T (p.Arg164=) c.506A>T (p.Asp169Val) c.128A>T (p.Asp43Val) c.512A>T (p.Asp171Val) c.487A>T (p.Thr163Ser) c.245A>T (p.Asp82Val) c.392A>T (p.Asp131Val) c.453A>T (p.Arg151=) n.883A>T c.431A>T (p.Asp144Val) c.509A>T (p.Asp170Val) c.620A>T (p.Asp207Val) c.534A>T (p.Arg178=) | |
19 | g.1106411C>A | CA402939748 | GPX4 | c.624C>A (p.Asp208Glu) c.493C>A (p.Gln165Lys) c.507C>A (p.Asp169Glu) c.129C>A (p.Asp43Glu) c.513C>A (p.Asp171Glu) c.488C>A (p.Thr163Lys) c.246C>A (p.Asp82Glu) c.393C>A (p.Asp131Glu) c.454C>A (p.Gln152Lys) n.884C>A c.432C>A (p.Asp144Glu) c.510C>A (p.Asp170Glu) c.621C>A (p.Asp207Glu) c.535C>A (p.Gln179Lys) | |
19 | g.1106411C= | CA2317520647 | GPX4 | c.624C= (p.Asp208=) c.493C= (p.Gln165=) c.507C= (p.Asp169=) c.129C= (p.Asp43=) c.513C= (p.Asp171=) c.488C= (p.Thr163=) c.246C= (p.Asp82=) c.393C= (p.Asp131=) c.454C= (p.Gln152=) n.884C= c.432C= (p.Asp144=) c.510C= (p.Asp170=) c.621C= (p.Asp207=) c.535C= (p.Gln179=) | |
19 | g.1106411C>G | CA402939752 | GPX4 | c.624C>G (p.Asp208Glu) c.493C>G (p.Gln165Glu) c.507C>G (p.Asp169Glu) c.129C>G (p.Asp43Glu) c.513C>G (p.Asp171Glu) c.488C>G (p.Thr163Arg) c.246C>G (p.Asp82Glu) c.393C>G (p.Asp131Glu) c.454C>G (p.Gln152Glu) n.884C>G c.432C>G (p.Asp144Glu) c.510C>G (p.Asp170Glu) c.621C>G (p.Asp207Glu) c.535C>G (p.Gln179Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1106411C>T | CA402939755 | GPX4 | c.624C>T (p.Asp208=) c.493C>T (p.Gln165Ter) c.507C>T (p.Asp169=) c.129C>T (p.Asp43=) c.513C>T (p.Asp171=) c.488C>T (p.Thr163Ile) c.246C>T (p.Asp82=) c.393C>T (p.Asp131=) c.454C>T (p.Gln152Ter) n.884C>T c.432C>T (p.Asp144=) c.510C>T (p.Asp170=) c.621C>T (p.Asp207=) c.535C>T (p.Gln179Ter) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1106412A>C | CA402939761 | GPX4 | c.625A>C (p.Lys209Gln) c.494A>C (p.Gln165Pro) c.508A>C (p.Lys170Gln) c.130A>C (p.Lys44Gln) c.514A>C (p.Lys172Gln) c.489A>C (p.Thr163=) c.247A>C (p.Lys83Gln) c.394A>C (p.Lys132Gln) c.455A>C (p.Gln152Pro) n.885A>C c.433A>C (p.Lys145Gln) c.511A>C (p.Lys171Gln) c.622A>C (p.Lys208Gln) c.536A>C (p.Gln179Pro) | |
19 | g.1106412A>G | CA402939764 | GPX4 | c.625A>G (p.Lys209Glu) c.494A>G (p.Gln165Arg) c.508A>G (p.Lys170Glu) c.130A>G (p.Lys44Glu) c.514A>G (p.Lys172Glu) c.489A>G (p.Thr163=) c.247A>G (p.Lys83Glu) c.394A>G (p.Lys132Glu) c.455A>G (p.Gln152Arg) n.885A>G c.433A>G (p.Lys145Glu) c.511A>G (p.Lys171Glu) c.622A>G (p.Lys208Glu) c.536A>G (p.Gln179Arg) | |
19 | g.1106412A>T | CA402939767 | GPX4 | c.625A>T (p.Lys209Ter) c.494A>T (p.Gln165Leu) c.508A>T (p.Lys170Ter) c.130A>T (p.Lys44Ter) c.514A>T (p.Lys172Ter) c.489A>T (p.Thr163=) c.247A>T (p.Lys83Ter) c.394A>T (p.Lys132Ter) c.455A>T (p.Gln152Leu) n.885A>T c.433A>T (p.Lys145Ter) c.511A>T (p.Lys171Ter) c.622A>T (p.Lys208Ter) c.536A>T (p.Gln179Leu) | |
19 | g.1106413A= | CA2317520648 | GPX4 | c.626A= (p.Lys209=) c.495A= (p.Gln165=) c.509A= (p.Lys170=) c.131A= (p.Lys44=) c.515A= (p.Lys172=) c.490A= (p.Arg164=) c.248A= (p.Lys83=) c.395A= (p.Lys132=) c.456A= (p.Gln152=) n.886A= c.434A= (p.Lys145=) c.512A= (p.Lys171=) c.623A= (p.Lys208=) c.537A= (p.Gln179=) | |
19 | g.1106413A>C | CA9037468 | GPX4 | c.626A>C (p.Lys209Thr) c.495A>C (p.Gln165His) c.509A>C (p.Lys170Thr) c.131A>C (p.Lys44Thr) c.515A>C (p.Lys172Thr) c.490A>C (p.Arg164=) c.248A>C (p.Lys83Thr) c.395A>C (p.Lys132Thr) c.456A>C (p.Gln152His) n.886A>C c.434A>C (p.Lys145Thr) c.512A>C (p.Lys171Thr) c.623A>C (p.Lys208Thr) c.537A>C (p.Gln179His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1106413A>G | CA402939780 | GPX4 | c.626A>G (p.Lys209Arg) c.495A>G (p.Gln165=) c.509A>G (p.Lys170Arg) c.131A>G (p.Lys44Arg) c.515A>G (p.Lys172Arg) c.490A>G (p.Arg164Gly) c.248A>G (p.Lys83Arg) c.395A>G (p.Lys132Arg) c.456A>G (p.Gln152=) n.886A>G c.434A>G (p.Lys145Arg) c.512A>G (p.Lys171Arg) c.623A>G (p.Lys208Arg) c.537A>G (p.Gln179=) | dbSNP |
19 | g.1106413A>T | CA402939777 | GPX4 | c.626A>T (p.Lys209Met) c.495A>T (p.Gln165His) c.509A>T (p.Lys170Met) c.131A>T (p.Lys44Met) c.515A>T (p.Lys172Met) c.490A>T (p.Arg164Ter) c.248A>T (p.Lys83Met) c.395A>T (p.Lys132Met) c.456A>T (p.Gln152His) n.886A>T c.434A>T (p.Lys145Met) c.512A>T (p.Lys171Met) c.623A>T (p.Lys208Met) c.537A>T (p.Gln179His) | |
19 | g.1106414_1106415del | CA2576545169 | GPX4 | c.627_628del (p.Asn210ArgfsTer?) c.496_497del (p.Glu166ThrfsTer5) c.510_511del (p.Asn171ArgfsTer?) c.132_133del (p.Asn45ArgfsTer?) c.516_517del (p.Asn173ArgfsTer?) c.491_492del (p.Arg164AsnfsTer26) c.249_250del (p.Asn84ArgfsTer?) c.396_397del (p.Asn133ArgfsTer?) c.457_458del (p.Glu153ThrfsTer5) n.887_888del c.435_436del (p.Asn146ArgfsTer?) c.513_514del (p.Asn172ArgfsTer?) c.624_625del (p.Asn209ArgfsTer?) c.538_539del (p.Glu180ThrfsTer5) | |
19 | g.1106413_1106414insTT | CA9037469 | GPX4 | c.626_627insTT (p.Lys209AsnfsTer2) c.495_496insTT (p.Glu166LeufsTer27) c.509_510insTT (p.Lys170AsnfsTer2) c.131_132insTT (p.Lys44AsnfsTer2) c.515_516insTT (p.Lys172AsnfsTer2) c.490_491insTT (p.Arg164IlefsTer?) c.248_249insTT (p.Lys83AsnfsTer2) c.395_396insTT (p.Lys132AsnfsTer2) c.456_457insTT (p.Glu153LeufsTer27) n.886_887insTT c.495_496insTT (p.Glu166LeufsTer?) c.434_435insTT (p.Lys145AsnfsTer2) c.512_513insTT (p.Lys171AsnfsTer2) c.623_624insTT (p.Lys208AsnfsTer2) c.537_538insTT (p.Glu180LeufsTer27) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1106414G>A | CA9037470 | GPX4 | c.627G>A (p.Lys209=) c.496G>A (p.Glu166Lys) c.510G>A (p.Lys170=) c.132G>A (p.Lys44=) c.516G>A (p.Lys172=) c.491G>A (p.Arg164Lys) c.249G>A (p.Lys83=) c.396G>A (p.Lys132=) c.457G>A (p.Glu153Lys) n.887G>A c.435G>A (p.Lys145=) c.513G>A (p.Lys171=) c.624G>A (p.Lys208=) c.538G>A (p.Glu180Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1106414G>C | CA402939798 | GPX4 | c.627G>C (p.Lys209Asn) c.496G>C (p.Glu166Gln) c.510G>C (p.Lys170Asn) c.132G>C (p.Lys44Asn) c.516G>C (p.Lys172Asn) c.491G>C (p.Arg164Thr) c.249G>C (p.Lys83Asn) c.396G>C (p.Lys132Asn) c.457G>C (p.Glu153Gln) n.887G>C c.435G>C (p.Lys145Asn) c.513G>C (p.Lys171Asn) c.624G>C (p.Lys208Asn) c.538G>C (p.Glu180Gln) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1106414G= | CA2317520649 | GPX4 | c.627G= (p.Lys209=) c.496G= (p.Glu166=) c.510G= (p.Lys170=) c.132G= (p.Lys44=) c.516G= (p.Lys172=) c.491G= (p.Arg164=) c.249G= (p.Lys83=) c.396G= (p.Lys132=) c.457G= (p.Glu153=) n.887G= c.435G= (p.Lys145=) c.513G= (p.Lys171=) c.624G= (p.Lys208=) c.538G= (p.Glu180=) | |
19 | g.1106414G>T | CA402939805 | GPX4 | c.627G>T (p.Lys209Asn) c.496G>T (p.Glu166Ter) c.510G>T (p.Lys170Asn) c.132G>T (p.Lys44Asn) c.516G>T (p.Lys172Asn) c.491G>T (p.Arg164Ile) c.249G>T (p.Lys83Asn) c.396G>T (p.Lys132Asn) c.457G>T (p.Glu153Ter) n.887G>T c.435G>T (p.Lys145Asn) c.513G>T (p.Lys171Asn) c.624G>T (p.Lys208Asn) c.538G>T (p.Glu180Ter) | gnomAD v4 |
19 | g.1106415A= | CA2317520650 | GPX4 | c.628A= (p.Asn210=) c.497A= (p.Glu166=) c.511A= (p.Asn171=) c.133A= (p.Asn45=) c.517A= (p.Asn173=) c.492A= (p.Arg164=) c.250A= (p.Asn84=) c.397A= (p.Asn133=) c.458A= (p.Glu153=) n.888A= c.436A= (p.Asn146=) c.514A= (p.Asn172=) c.625A= (p.Asn209=) c.539A= (p.Glu180=) | |
19 | g.1106415A>C | CA402939819 | GPX4 | c.628A>C (p.Asn210His) c.497A>C (p.Glu166Ala) c.511A>C (p.Asn171His) c.133A>C (p.Asn45His) c.517A>C (p.Asn173His) c.492A>C (p.Arg164Ser) c.250A>C (p.Asn84His) c.397A>C (p.Asn133His) c.458A>C (p.Glu153Ala) n.888A>C c.436A>C (p.Asn146His) c.514A>C (p.Asn172His) c.625A>C (p.Asn209His) c.539A>C (p.Glu180Ala) | dbSNP |
19 | g.1106415A>G | CA402939824 | GPX4 | c.628A>G (p.Asn210Asp) c.497A>G (p.Glu166Gly) c.511A>G (p.Asn171Asp) c.133A>G (p.Asn45Asp) c.517A>G (p.Asn173Asp) c.492A>G (p.Arg164=) c.250A>G (p.Asn84Asp) c.397A>G (p.Asn133Asp) c.458A>G (p.Glu153Gly) n.888A>G c.436A>G (p.Asn146Asp) c.514A>G (p.Asn172Asp) c.625A>G (p.Asn209Asp) c.539A>G (p.Glu180Gly) | |
19 | g.1106415A>T | CA402939837 | GPX4 | c.628A>T (p.Asn210Tyr) c.497A>T (p.Glu166Val) c.511A>T (p.Asn171Tyr) c.133A>T (p.Asn45Tyr) c.517A>T (p.Asn173Tyr) c.492A>T (p.Arg164Ser) c.250A>T (p.Asn84Tyr) c.397A>T (p.Asn133Tyr) c.458A>T (p.Glu153Val) n.888A>T c.436A>T (p.Asn146Tyr) c.514A>T (p.Asn172Tyr) c.625A>T (p.Asn209Tyr) c.539A>T (p.Glu180Val) | |
19 | g.1106416A>C | CA402939843 | GPX4 | c.629A>C (p.Asn210Thr) c.498A>C (p.Glu166Asp) c.512A>C (p.Asn171Thr) c.134A>C (p.Asn45Thr) c.518A>C (p.Asn173Thr) c.493A>C (p.Thr165Pro) c.251A>C (p.Asn84Thr) c.398A>C (p.Asn133Thr) c.459A>C (p.Glu153Asp) n.889A>C c.437A>C (p.Asn146Thr) c.515A>C (p.Asn172Thr) c.626A>C (p.Asn209Thr) c.540A>C (p.Glu180Asp) | |
19 | g.1106416A>G | CA402939842 | GPX4 | c.629A>G (p.Asn210Ser) c.498A>G (p.Glu166=) c.512A>G (p.Asn171Ser) c.134A>G (p.Asn45Ser) c.518A>G (p.Asn173Ser) c.493A>G (p.Thr165Ala) c.251A>G (p.Asn84Ser) c.398A>G (p.Asn133Ser) c.459A>G (p.Glu153=) n.889A>G c.437A>G (p.Asn146Ser) c.515A>G (p.Asn172Ser) c.626A>G (p.Asn209Ser) c.540A>G (p.Glu180=) | |
19 | g.1106416A>T | CA402939841 | GPX4 | c.629A>T (p.Asn210Ile) c.498A>T (p.Glu166Asp) c.512A>T (p.Asn171Ile) c.134A>T (p.Asn45Ile) c.518A>T (p.Asn173Ile) c.493A>T (p.Thr165Ser) c.251A>T (p.Asn84Ile) c.398A>T (p.Asn133Ile) c.459A>T (p.Glu153Asp) n.889A>T c.437A>T (p.Asn146Ile) c.515A>T (p.Asn172Ile) c.626A>T (p.Asn209Ile) c.540A>T (p.Glu180Asp) | |
19 | g.1106417C>A | CA402939844 | GPX4 | c.630C>A (p.Asn210Lys) c.499C>A (p.Arg167=) c.513C>A (p.Asn171Lys) c.135C>A (p.Asn45Lys) c.519C>A (p.Asn173Lys) c.494C>A (p.Thr165Lys) c.252C>A (p.Asn84Lys) c.399C>A (p.Asn133Lys) c.460C>A (p.Arg154=) n.890C>A c.438C>A (p.Asn146Lys) c.516C>A (p.Asn172Lys) c.627C>A (p.Asn209Lys) c.541C>A (p.Arg181=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1106417C= | CA2317520651 | GPX4 | c.630C= (p.Asn210=) c.499C= (p.Arg167=) c.513C= (p.Asn171=) c.135C= (p.Asn45=) c.519C= (p.Asn173=) c.494C= (p.Thr165=) c.252C= (p.Asn84=) c.399C= (p.Asn133=) c.460C= (p.Arg154=) n.890C= c.438C= (p.Asn146=) c.516C= (p.Asn172=) c.627C= (p.Asn209=) c.541C= (p.Arg181=) | |
19 | g.1106417C>G | CA402939845 | GPX4 | c.630C>G (p.Asn210Lys) c.499C>G (p.Arg167Gly) c.513C>G (p.Asn171Lys) c.135C>G (p.Asn45Lys) c.519C>G (p.Asn173Lys) c.494C>G (p.Thr165Arg) c.252C>G (p.Asn84Lys) c.399C>G (p.Asn133Lys) c.460C>G (p.Arg154Gly) n.890C>G c.438C>G (p.Asn146Lys) c.516C>G (p.Asn172Lys) c.627C>G (p.Asn209Lys) c.541C>G (p.Arg181Gly) | |
19 | g.1106417C>T | CA9037471 | GPX4 | c.630C>T (p.Asn210=) c.499C>T (p.Arg167Trp) c.513C>T (p.Asn171=) c.135C>T (p.Asn45=) c.519C>T (p.Asn173=) c.494C>T (p.Thr165Met) c.252C>T (p.Asn84=) c.399C>T (p.Asn133=) c.460C>T (p.Arg154Trp) n.890C>T c.438C>T (p.Asn146=) c.516C>T (p.Asn172=) c.627C>T (p.Asn209=) c.541C>T (p.Arg181Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106418G>A | CA9037472 | GPX4 | c.631G>A (p.Gly211Ser) c.500G>A (p.Arg167Gln) c.514G>A (p.Gly172Ser) c.136G>A (p.Gly46Ser) c.520G>A (p.Gly174Ser) c.495G>A (p.Thr165=) c.253G>A (p.Gly85Ser) c.400G>A (p.Gly134Ser) c.461G>A (p.Arg154Gln) n.891G>A c.439G>A (p.Gly147Ser) c.517G>A (p.Gly173Ser) c.628G>A (p.Gly210Ser) c.542G>A (p.Arg181Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106418G>C | CA402939848 | GPX4 | c.631G>C (p.Gly211Arg) c.500G>C (p.Arg167Pro) c.514G>C (p.Gly172Arg) c.136G>C (p.Gly46Arg) c.520G>C (p.Gly174Arg) c.495G>C (p.Thr165=) c.253G>C (p.Gly85Arg) c.400G>C (p.Gly134Arg) c.461G>C (p.Arg154Pro) n.891G>C c.439G>C (p.Gly147Arg) c.517G>C (p.Gly173Arg) c.628G>C (p.Gly210Arg) c.542G>C (p.Arg181Pro) | gnomAD v4 |
19 | g.1106418G= | CA2317520652 | GPX4 | c.631G= (p.Gly211=) c.500G= (p.Arg167=) c.514G= (p.Gly172=) c.136G= (p.Gly46=) c.520G= (p.Gly174=) c.495G= (p.Thr165=) c.253G= (p.Gly85=) c.400G= (p.Gly134=) c.461G= (p.Arg154=) n.891G= c.439G= (p.Gly147=) c.517G= (p.Gly173=) c.628G= (p.Gly210=) c.542G= (p.Arg181=) | |
19 | g.1106418G>T | CA402939849 | GPX4 | c.631G>T (p.Gly211Cys) c.500G>T (p.Arg167Leu) c.514G>T (p.Gly172Cys) c.136G>T (p.Gly46Cys) c.520G>T (p.Gly174Cys) c.495G>T (p.Thr165=) c.253G>T (p.Gly85Cys) c.400G>T (p.Gly134Cys) c.461G>T (p.Arg154Leu) n.891G>T c.439G>T (p.Gly147Cys) c.517G>T (p.Gly173Cys) c.628G>T (p.Gly210Cys) c.542G>T (p.Arg181Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1106419G>A | CA303994875 | GPX4 | c.632G>A (p.Gly211Asp) c.501G>A (p.Arg167=) c.515G>A (p.Gly172Asp) c.137G>A (p.Gly46Asp) c.521G>A (p.Gly174Asp) c.496G>A (p.Ala166Thr) c.254G>A (p.Gly85Asp) c.401G>A (p.Gly134Asp) c.462G>A (p.Arg154=) n.892G>A c.440G>A (p.Gly147Asp) c.518G>A (p.Gly173Asp) c.629G>A (p.Gly210Asp) c.543G>A (p.Arg181=) | dbSNP |
19 | g.1106419G>C | CA402939855 | GPX4 | c.632G>C (p.Gly211Ala) c.501G>C (p.Arg167=) c.515G>C (p.Gly172Ala) c.137G>C (p.Gly46Ala) c.521G>C (p.Gly174Ala) c.496G>C (p.Ala166Pro) c.254G>C (p.Gly85Ala) c.401G>C (p.Gly134Ala) c.462G>C (p.Arg154=) n.892G>C c.440G>C (p.Gly147Ala) c.518G>C (p.Gly173Ala) c.629G>C (p.Gly210Ala) c.543G>C (p.Arg181=) | gnomAD v4 COSMIC |
19 | g.1106419G= | CA2317520653 | GPX4 | c.632G= (p.Gly211=) c.501G= (p.Arg167=) c.515G= (p.Gly172=) c.137G= (p.Gly46=) c.521G= (p.Gly174=) c.496G= (p.Ala166=) c.254G= (p.Gly85=) c.401G= (p.Gly134=) c.462G= (p.Arg154=) n.892G= c.440G= (p.Gly147=) c.518G= (p.Gly173=) c.629G= (p.Gly210=) c.543G= (p.Arg181=) | |
19 | g.1106419G>T | CA402939853 | GPX4 | c.632G>T (p.Gly211Val) c.501G>T (p.Arg167=) c.515G>T (p.Gly172Val) c.137G>T (p.Gly46Val) c.521G>T (p.Gly174Val) c.496G>T (p.Ala166Ser) c.254G>T (p.Gly85Val) c.401G>T (p.Gly134Val) c.462G>T (p.Arg154=) n.892G>T c.440G>T (p.Gly147Val) c.518G>T (p.Gly173Val) c.629G>T (p.Gly210Val) c.543G>T (p.Arg181=) | |
19 | g.1106420C>A | CA402939859 | GPX4 | c.633C>A (p.Gly211=) c.502C>A (p.Leu168Met) c.516C>A (p.Gly172=) c.138C>A (p.Gly46=) c.522C>A (p.Gly174=) c.497C>A (p.Ala166Asp) c.255C>A (p.Gly85=) c.402C>A (p.Gly134=) c.463C>A (p.Leu155Met) n.893C>A c.441C>A (p.Gly147=) c.519C>A (p.Gly173=) c.630C>A (p.Gly210=) c.544C>A (p.Leu182Met) | |
19 | g.1106420C= | CA2317520654 | GPX4 | c.633C= (p.Gly211=) c.502C= (p.Leu168=) c.516C= (p.Gly172=) c.138C= (p.Gly46=) c.522C= (p.Gly174=) c.497C= (p.Ala166=) c.255C= (p.Gly85=) c.402C= (p.Gly134=) c.463C= (p.Leu155=) n.893C= c.441C= (p.Gly147=) c.519C= (p.Gly173=) c.630C= (p.Gly210=) c.544C= (p.Leu182=) | |
19 | g.1106420C>G | CA402939862 | GPX4 | c.633C>G (p.Gly211=) c.502C>G (p.Leu168Val) c.516C>G (p.Gly172=) c.138C>G (p.Gly46=) c.522C>G (p.Gly174=) c.497C>G (p.Ala166Gly) c.255C>G (p.Gly85=) c.402C>G (p.Gly134=) c.463C>G (p.Leu155Val) n.893C>G c.441C>G (p.Gly147=) c.519C>G (p.Gly173=) c.630C>G (p.Gly210=) c.544C>G (p.Leu182Val) | gnomAD v4 |
19 | g.1106420C>T | CA9037473 | GPX4 | c.633C>T (p.Gly211=) c.502C>T (p.Leu168=) c.516C>T (p.Gly172=) c.138C>T (p.Gly46=) c.522C>T (p.Gly174=) c.497C>T (p.Ala166Val) c.255C>T (p.Gly85=) c.402C>T (p.Gly134=) c.463C>T (p.Leu155=) n.893C>T c.441C>T (p.Gly147=) c.519C>T (p.Gly173=) c.630C>T (p.Gly210=) c.544C>T (p.Leu182=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.1106421T>A | CA402939868 | GPX4 | c.634T>A (p.Cys212Ser) c.503T>A (p.Leu168Gln) c.517T>A (p.Cys173Ser) c.139T>A (p.Cys47Ser) c.523T>A (p.Cys175Ser) c.498T>A (p.Ala166=) c.256T>A (p.Cys86Ser) c.403T>A (p.Cys135Ser) c.464T>A (p.Leu155Gln) n.894T>A c.442T>A (p.Cys148Ser) c.520T>A (p.Cys174Ser) c.631T>A (p.Cys211Ser) c.545T>A (p.Leu182Gln) | |
19 | g.1106421T>C | CA402939871 | GPX4 | c.634T>C (p.Cys212Arg) c.503T>C (p.Leu168Pro) c.517T>C (p.Cys173Arg) c.139T>C (p.Cys47Arg) c.523T>C (p.Cys175Arg) c.498T>C (p.Ala166=) c.256T>C (p.Cys86Arg) c.403T>C (p.Cys135Arg) c.464T>C (p.Leu155Pro) n.894T>C c.442T>C (p.Cys148Arg) c.520T>C (p.Cys174Arg) c.631T>C (p.Cys211Arg) c.545T>C (p.Leu182Pro) | |
19 | g.1106421T>G | CA402939873 | GPX4 | c.634T>G (p.Cys212Gly) c.503T>G (p.Leu168Arg) c.517T>G (p.Cys173Gly) c.139T>G (p.Cys47Gly) c.523T>G (p.Cys175Gly) c.498T>G (p.Ala166=) c.256T>G (p.Cys86Gly) c.403T>G (p.Cys135Gly) c.464T>G (p.Leu155Arg) n.894T>G c.442T>G (p.Cys148Gly) c.520T>G (p.Cys174Gly) c.631T>G (p.Cys211Gly) c.545T>G (p.Leu182Arg) | |
19 | g.1106422G>A | CA402939879 | GPX4 | c.635G>A (p.Cys212Tyr) c.504G>A (p.Leu168=) c.518G>A (p.Cys173Tyr) c.140G>A (p.Cys47Tyr) c.524G>A (p.Cys175Tyr) c.499G>A (p.Ala167Thr) c.257G>A (p.Cys86Tyr) c.404G>A (p.Cys135Tyr) c.465G>A (p.Leu155=) n.895G>A c.443G>A (p.Cys148Tyr) c.521G>A (p.Cys174Tyr) c.632G>A (p.Cys211Tyr) c.546G>A (p.Leu182=) | gnomAD v4 |
19 | g.1106422G>C | CA303994885 | GPX4 | c.635G>C (p.Cys212Ser) c.504G>C (p.Leu168=) c.518G>C (p.Cys173Ser) c.140G>C (p.Cys47Ser) c.524G>C (p.Cys175Ser) c.499G>C (p.Ala167Pro) c.257G>C (p.Cys86Ser) c.404G>C (p.Cys135Ser) c.465G>C (p.Leu155=) n.895G>C c.443G>C (p.Cys148Ser) c.521G>C (p.Cys174Ser) c.632G>C (p.Cys211Ser) c.546G>C (p.Leu182=) | dbSNP gnomAD v4 |
19 | g.1106422G= | CA2317520655 | GPX4 | c.635G= (p.Cys212=) c.504G= (p.Leu168=) c.518G= (p.Cys173=) c.140G= (p.Cys47=) c.524G= (p.Cys175=) c.499G= (p.Ala167=) c.257G= (p.Cys86=) c.404G= (p.Cys135=) c.465G= (p.Leu155=) n.895G= c.443G= (p.Cys148=) c.521G= (p.Cys174=) c.632G= (p.Cys211=) c.546G= (p.Leu182=) | |
19 | g.1106422G>T | CA303994889 | GPX4 | c.635G>T (p.Cys212Phe) c.504G>T (p.Leu168=) c.518G>T (p.Cys173Phe) c.140G>T (p.Cys47Phe) c.524G>T (p.Cys175Phe) c.499G>T (p.Ala167Ser) c.257G>T (p.Cys86Phe) c.404G>T (p.Cys135Phe) c.465G>T (p.Leu155=) n.895G>T c.443G>T (p.Cys148Phe) c.521G>T (p.Cys174Phe) c.632G>T (p.Cys211Phe) c.546G>T (p.Leu182=) | dbSNP gnomAD v4 |
19 | g.1106423C>A | CA402939888 | GPX4 | c.636C>A (p.Cys212Ter) c.505C>A (p.Arg169Ser) c.519C>A (p.Cys173Ter) c.141C>A (p.Cys47Ter) c.525C>A (p.Cys175Ter) c.500C>A (p.Ala167Glu) c.258C>A (p.Cys86Ter) c.405C>A (p.Cys135Ter) c.466C>A (p.Arg156Ser) n.896C>A c.444C>A (p.Cys148Ter) c.522C>A (p.Cys174Ter) c.633C>A (p.Cys211Ter) c.547C>A (p.Arg183Ser) | gnomAD v4 |
19 | g.1106423C= | CA2317520656 | GPX4 | c.636C= (p.Cys212=) c.505C= (p.Arg169=) c.519C= (p.Cys173=) c.141C= (p.Cys47=) c.525C= (p.Cys175=) c.500C= (p.Ala167=) c.258C= (p.Cys86=) c.405C= (p.Cys135=) c.466C= (p.Arg156=) n.896C= c.444C= (p.Cys148=) c.522C= (p.Cys174=) c.633C= (p.Cys211=) c.547C= (p.Arg183=) | |
19 | g.1106423C>G | CA402939892 | GPX4 | c.636C>G (p.Cys212Trp) c.505C>G (p.Arg169Gly) c.519C>G (p.Cys173Trp) c.141C>G (p.Cys47Trp) c.525C>G (p.Cys175Trp) c.500C>G (p.Ala167Gly) c.258C>G (p.Cys86Trp) c.405C>G (p.Cys135Trp) c.466C>G (p.Arg156Gly) n.896C>G c.444C>G (p.Cys148Trp) c.522C>G (p.Cys174Trp) c.633C>G (p.Cys211Trp) c.547C>G (p.Arg183Gly) | |
19 | g.1106423C>T | CA9037474 | GPX4 | c.636C>T (p.Cys212=) c.505C>T (p.Arg169Cys) c.519C>T (p.Cys173=) c.141C>T (p.Cys47=) c.525C>T (p.Cys175=) c.500C>T (p.Ala167Val) c.258C>T (p.Cys86=) c.405C>T (p.Cys135=) c.466C>T (p.Arg156Cys) n.896C>T c.444C>T (p.Cys148=) c.522C>T (p.Cys174=) c.633C>T (p.Cys211=) c.547C>T (p.Arg183Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106424G>A | CA9037475 | GPX4 | c.637G>A (p.Val213Met) c.506G>A (p.Arg169His) c.520G>A (p.Val174Met) c.142G>A (p.Val48Met) c.526G>A (p.Val176Met) c.501G>A (p.Ala167=) c.259G>A (p.Val87Met) c.406G>A (p.Val136Met) c.467G>A (p.Arg156His) n.897G>A c.445G>A (p.Val149Met) c.523G>A (p.Val175Met) c.634G>A (p.Val212Met) c.548G>A (p.Arg183His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106424G>C | CA402939902 | GPX4 | c.637G>C (p.Val213Leu) c.506G>C (p.Arg169Pro) c.520G>C (p.Val174Leu) c.142G>C (p.Val48Leu) c.526G>C (p.Val176Leu) c.501G>C (p.Ala167=) c.259G>C (p.Val87Leu) c.406G>C (p.Val136Leu) c.467G>C (p.Arg156Pro) n.897G>C c.445G>C (p.Val149Leu) c.523G>C (p.Val175Leu) c.634G>C (p.Val212Leu) c.548G>C (p.Arg183Pro) | |
19 | g.1106424G= | CA2317520657 | GPX4 | c.637G= (p.Val213=) c.506G= (p.Arg169=) c.520G= (p.Val174=) c.142G= (p.Val48=) c.526G= (p.Val176=) c.501G= (p.Ala167=) c.259G= (p.Val87=) c.406G= (p.Val136=) c.467G= (p.Arg156=) n.897G= c.445G= (p.Val149=) c.523G= (p.Val175=) c.634G= (p.Val212=) c.548G= (p.Arg183=) | |
19 | g.1106424G>T | CA402939898 | GPX4 | c.637G>T (p.Val213Leu) c.506G>T (p.Arg169Leu) c.520G>T (p.Val174Leu) c.142G>T (p.Val48Leu) c.526G>T (p.Val176Leu) c.501G>T (p.Ala167=) c.259G>T (p.Val87Leu) c.406G>T (p.Val136Leu) c.467G>T (p.Arg156Leu) n.897G>T c.445G>T (p.Val149Leu) c.523G>T (p.Val175Leu) c.634G>T (p.Val212Leu) c.548G>T (p.Arg183Leu) | |
19 | g.1106425T>A | CA402939907 | GPX4 | c.638T>A (p.Val213Glu) c.507T>A (p.Arg169=) c.521T>A (p.Val174Glu) c.143T>A (p.Val48Glu) c.527T>A (p.Val176Glu) c.502T>A (p.Trp168Arg) c.260T>A (p.Val87Glu) c.407T>A (p.Val136Glu) c.468T>A (p.Arg156=) n.898T>A c.446T>A (p.Val149Glu) c.524T>A (p.Val175Glu) c.635T>A (p.Val212Glu) c.549T>A (p.Arg183=) | |
19 | g.1106425T>C | CA402939910 | GPX4 | c.638T>C (p.Val213Ala) c.507T>C (p.Arg169=) c.521T>C (p.Val174Ala) c.143T>C (p.Val48Ala) c.527T>C (p.Val176Ala) c.502T>C (p.Trp168Arg) c.260T>C (p.Val87Ala) c.407T>C (p.Val136Ala) c.468T>C (p.Arg156=) n.898T>C c.446T>C (p.Val149Ala) c.524T>C (p.Val175Ala) c.635T>C (p.Val212Ala) c.549T>C (p.Arg183=) | |
19 | g.1106425T>G | CA402939913 | GPX4 | c.638T>G (p.Val213Gly) c.507T>G (p.Arg169=) c.521T>G (p.Val174Gly) c.143T>G (p.Val48Gly) c.527T>G (p.Val176Gly) c.502T>G (p.Trp168Gly) c.260T>G (p.Val87Gly) c.407T>G (p.Val136Gly) c.468T>G (p.Arg156=) n.898T>G c.446T>G (p.Val149Gly) c.524T>G (p.Val175Gly) c.635T>G (p.Val212Gly) c.549T>G (p.Arg183=) | gnomAD v4 |
19 | g.1106426G>A | CA402939917 | GPX4 | c.639G>A (p.Val213=) c.508G>A (p.Gly170Ser) c.522G>A (p.Val174=) c.144G>A (p.Val48=) c.528G>A (p.Val176=) c.503G>A (p.Trp168Ter) c.261G>A (p.Val87=) c.408G>A (p.Val136=) c.469G>A (p.Gly157Ser) n.899G>A c.447G>A (p.Val149=) c.525G>A (p.Val175=) c.636G>A (p.Val212=) c.550G>A (p.Gly184Ser) | |
19 | g.1106426G>C | CA402939919 | GPX4 | c.639G>C (p.Val213=) c.508G>C (p.Gly170Arg) c.522G>C (p.Val174=) c.144G>C (p.Val48=) c.528G>C (p.Val176=) c.503G>C (p.Trp168Ser) c.261G>C (p.Val87=) c.408G>C (p.Val136=) c.469G>C (p.Gly157Arg) n.899G>C c.447G>C (p.Val149=) c.525G>C (p.Val175=) c.636G>C (p.Val212=) c.550G>C (p.Gly184Arg) | |
19 | g.1106426G>T | CA402939922 | GPX4 | c.639G>T (p.Val213=) c.508G>T (p.Gly170Cys) c.522G>T (p.Val174=) c.144G>T (p.Val48=) c.528G>T (p.Val176=) c.503G>T (p.Trp168Leu) c.261G>T (p.Val87=) c.408G>T (p.Val136=) c.469G>T (p.Gly157Cys) n.899G>T c.447G>T (p.Val149=) c.525G>T (p.Val175=) c.636G>T (p.Val212=) c.550G>T (p.Gly184Cys) | gnomAD v4 |
19 | g.1106427G>A | CA402939924 | GPX4 | c.640G>A (p.Val214Met) c.509G>A (p.Gly170Asp) c.523G>A (p.Val175Met) c.145G>A (p.Val49Met) c.529G>A (p.Val177Met) c.504G>A (p.Trp168Ter) c.262G>A (p.Val88Met) c.409G>A (p.Val137Met) c.470G>A (p.Gly157Asp) n.900G>A c.448G>A (p.Val150Met) c.526G>A (p.Val176Met) c.637G>A (p.Val213Met) c.551G>A (p.Gly184Asp) | |
19 | g.1106427G>C | CA402939926 | GPX4 | c.640G>C (p.Val214Leu) c.509G>C (p.Gly170Ala) c.523G>C (p.Val175Leu) c.145G>C (p.Val49Leu) c.529G>C (p.Val177Leu) c.504G>C (p.Trp168Cys) c.262G>C (p.Val88Leu) c.409G>C (p.Val137Leu) c.470G>C (p.Gly157Ala) n.900G>C c.448G>C (p.Val150Leu) c.526G>C (p.Val176Leu) c.637G>C (p.Val213Leu) c.551G>C (p.Gly184Ala) | |
19 | g.1106427G>T | CA402939930 | GPX4 | c.640G>T (p.Val214Leu) c.509G>T (p.Gly170Val) c.523G>T (p.Val175Leu) c.145G>T (p.Val49Leu) c.529G>T (p.Val177Leu) c.504G>T (p.Trp168Cys) c.262G>T (p.Val88Leu) c.409G>T (p.Val137Leu) c.470G>T (p.Gly157Val) n.900G>T c.448G>T (p.Val150Leu) c.526G>T (p.Val176Leu) c.637G>T (p.Val213Leu) c.551G>T (p.Gly184Val) | |
19 | g.1106430_1106431insCGCGTGA | CA2813238551 | GPX4 | c.643_644insCGCGTGA (p.Lys215ThrfsTer?) c.512_513insCGCGTGA (p.Glu171AspfsTer3) c.526_527insCGCGTGA (p.Lys176ThrfsTer?) c.148_149insCGCGTGA (p.Lys50ThrfsTer?) c.532_533insCGCGTGA (p.Lys178ThrfsTer?) c.507_508insCGCGTGA (p.Ser170ArgfsTer23) c.265_266insCGCGTGA (p.Lys89ThrfsTer?) c.412_413insCGCGTGA (p.Lys138ThrfsTer?) c.473_474insCGCGTGA (p.Glu158AspfsTer3) n.903_904insCGCGTGA c.451_452insCGCGTGA (p.Lys151ThrfsTer?) c.529_530insCGCGTGA (p.Lys177ThrfsTer?) c.640_641insCGCGTGA (p.Lys214ThrfsTer?) c.554_555insCGCGTGA (p.Glu185AspfsTer3) | |
19 | g.1106428T>A | CA402939935 | GPX4 | c.641T>A (p.Val214Glu) c.510T>A (p.Gly170=) c.524T>A (p.Val175Glu) c.146T>A (p.Val49Glu) c.530T>A (p.Val177Glu) c.505T>A (p.Ter169Arg) c.263T>A (p.Val88Glu) c.410T>A (p.Val137Glu) c.471T>A (p.Gly157=) n.901T>A c.449T>A (p.Val150Glu) c.527T>A (p.Val176Glu) c.638T>A (p.Val213Glu) c.552T>A (p.Gly184=) | |
19 | g.1106428T>C | CA402939937 | GPX4 | c.641T>C (p.Val214Ala) c.510T>C (p.Gly170=) c.524T>C (p.Val175Ala) c.146T>C (p.Val49Ala) c.530T>C (p.Val177Ala) c.505T>C (p.Ter169Arg) c.263T>C (p.Val88Ala) c.410T>C (p.Val137Ala) c.471T>C (p.Gly157=) n.901T>C c.449T>C (p.Val150Ala) c.527T>C (p.Val176Ala) c.638T>C (p.Val213Ala) c.552T>C (p.Gly184=) | dbSNP |
19 | g.1106428T>G | CA402939941 | GPX4 | c.641T>G (p.Val214Gly) c.510T>G (p.Gly170=) c.524T>G (p.Val175Gly) c.146T>G (p.Val49Gly) c.530T>G (p.Val177Gly) c.505T>G (p.Ter169Gly) c.263T>G (p.Val88Gly) c.410T>G (p.Val137Gly) c.471T>G (p.Gly157=) n.901T>G c.449T>G (p.Val150Gly) c.527T>G (p.Val176Gly) c.638T>G (p.Val213Gly) c.552T>G (p.Gly184=) | |
19 | g.1106428T= | CA402939944 | GPX4 | c.641T= (p.Val214=) c.510T= (p.Gly170=) c.524T= (p.Val175=) c.146T= (p.Val49=) c.530T= (p.Val177=) c.505T= (p.Ter169=) c.263T= (p.Val88=) c.410T= (p.Val137=) c.471T= (p.Gly157=) n.901T= c.449T= (p.Val150=) c.527T= (p.Val176=) c.638T= (p.Val213=) c.552T= (p.Gly184=) | |
19 | g.1106429G>A | CA402939947 | GPX4 | c.642G>A (p.Val214=) c.511G>A (p.Glu171Lys) c.525G>A (p.Val175=) c.147G>A (p.Val49=) c.531G>A (p.Val177=) c.506G>A (p.Ter169=) c.264G>A (p.Val88=) c.411G>A (p.Val137=) c.472G>A (p.Glu158Lys) n.902G>A c.450G>A (p.Val150=) c.528G>A (p.Val176=) c.639G>A (p.Val213=) c.553G>A (p.Glu185Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1106429G>C | CA402939954 | GPX4 | c.642G>C (p.Val214=) c.511G>C (p.Glu171Gln) c.525G>C (p.Val175=) c.147G>C (p.Val49=) c.531G>C (p.Val177=) c.506G>C (p.Ter169Ser) c.264G>C (p.Val88=) c.411G>C (p.Val137=) c.472G>C (p.Glu158Gln) n.902G>C c.450G>C (p.Val150=) c.528G>C (p.Val176=) c.639G>C (p.Val213=) c.553G>C (p.Glu185Gln) | |
19 | g.1106429G= | CA402939951 | GPX4 | c.642G= (p.Val214=) c.511G= (p.Glu171=) c.525G= (p.Val175=) c.147G= (p.Val49=) c.531G= (p.Val177=) c.506G= (p.Ter169=) c.264G= (p.Val88=) c.411G= (p.Val137=) c.472G= (p.Glu158=) n.902G= c.450G= (p.Val150=) c.528G= (p.Val176=) c.639G= (p.Val213=) c.553G= (p.Glu185=) | |
19 | g.1106429G>T | CA402939949 | GPX4 | c.642G>T (p.Val214=) c.511G>T (p.Glu171Ter) c.525G>T (p.Val175=) c.147G>T (p.Val49=) c.531G>T (p.Val177=) c.506G>T (p.Ter169Leu) c.264G>T (p.Val88=) c.411G>T (p.Val137=) c.472G>T (p.Glu158Ter) n.902G>T c.450G>T (p.Val150=) c.528G>T (p.Val176=) c.639G>T (p.Val213=) c.553G>T (p.Glu185Ter) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1106430A= | CA402939956 | GPX4 | c.643A= (p.Lys215=) c.512A= (p.Glu171=) c.526A= (p.Lys176=) c.148A= (p.Lys50=) c.532A= (p.Lys178=) c.507A= (p.Ter169=) c.265A= (p.Lys89=) c.412A= (p.Lys138=) c.473A= (p.Glu158=) n.903A= c.451A= (p.Lys151=) c.529A= (p.Lys177=) c.640A= (p.Lys214=) c.554A= (p.Glu185=) | |
19 | g.1106430A>C | CA402939960 | GPX4 | c.643A>C (p.Lys215Gln) c.512A>C (p.Glu171Ala) c.526A>C (p.Lys176Gln) c.148A>C (p.Lys50Gln) c.532A>C (p.Lys178Gln) c.507A>C (p.Ter169Cys) c.265A>C (p.Lys89Gln) c.412A>C (p.Lys138Gln) c.473A>C (p.Glu158Ala) n.903A>C c.451A>C (p.Lys151Gln) c.529A>C (p.Lys177Gln) c.640A>C (p.Lys214Gln) c.554A>C (p.Glu185Ala) | |
19 | g.1106430A>G | CA402939962 | GPX4 | c.643A>G (p.Lys215Glu) c.512A>G (p.Glu171Gly) c.526A>G (p.Lys176Glu) c.148A>G (p.Lys50Glu) c.532A>G (p.Lys178Glu) c.507A>G (p.Ter169Trp) c.265A>G (p.Lys89Glu) c.412A>G (p.Lys138Glu) c.473A>G (p.Glu158Gly) n.903A>G c.451A>G (p.Lys151Glu) c.529A>G (p.Lys177Glu) c.640A>G (p.Lys214Glu) c.554A>G (p.Glu185Gly) | |
19 | g.1106430A>T | CA402939966 | GPX4 | c.643A>T (p.Lys215Ter) c.512A>T (p.Glu171Val) c.526A>T (p.Lys176Ter) c.148A>T (p.Lys50Ter) c.532A>T (p.Lys178Ter) c.507A>T (p.Ter169Cys) c.265A>T (p.Lys89Ter) c.412A>T (p.Lys138Ter) c.473A>T (p.Glu158Val) n.903A>T c.451A>T (p.Lys151Ter) c.529A>T (p.Lys177Ter) c.640A>T (p.Lys214Ter) c.554A>T (p.Glu185Val) | |
19 | g.1106431A= | CA2317520658 | GPX4 | c.644A= (p.Lys215=) c.513A= (p.Glu171=) c.527A= (p.Lys176=) c.149A= (p.Lys50=) c.533A= (p.Lys178=) c.508A= (p.Ser170=) c.266A= (p.Lys89=) c.413A= (p.Lys138=) c.474A= (p.Glu158=) n.904A= c.452A= (p.Lys151=) c.530A= (p.Lys177=) c.641A= (p.Lys214=) c.555A= (p.Glu185=) | |
19 | g.1106431A>C | CA402939968 | GPX4 | c.644A>C (p.Lys215Thr) c.513A>C (p.Glu171Asp) c.527A>C (p.Lys176Thr) c.149A>C (p.Lys50Thr) c.533A>C (p.Lys178Thr) c.508A>C (p.Ser170Arg) c.266A>C (p.Lys89Thr) c.413A>C (p.Lys138Thr) c.474A>C (p.Glu158Asp) n.904A>C c.452A>C (p.Lys151Thr) c.530A>C (p.Lys177Thr) c.641A>C (p.Lys214Thr) c.555A>C (p.Glu185Asp) | |
19 | g.1106431A>G | CA402939984 | GPX4 | c.644A>G (p.Lys215Arg) c.513A>G (p.Glu171=) c.527A>G (p.Lys176Arg) c.149A>G (p.Lys50Arg) c.533A>G (p.Lys178Arg) c.508A>G (p.Ser170Gly) c.266A>G (p.Lys89Arg) c.413A>G (p.Lys138Arg) c.474A>G (p.Glu158=) n.904A>G c.452A>G (p.Lys151Arg) c.530A>G (p.Lys177Arg) c.641A>G (p.Lys214Arg) c.555A>G (p.Glu185=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1106431A>T | CA402939987 | GPX4 | c.644A>T (p.Lys215Met) c.513A>T (p.Glu171Asp) c.527A>T (p.Lys176Met) c.149A>T (p.Lys50Met) c.533A>T (p.Lys178Met) c.508A>T (p.Ser170Cys) c.266A>T (p.Lys89Met) c.413A>T (p.Lys138Met) c.474A>T (p.Glu158Asp) n.904A>T c.452A>T (p.Lys151Met) c.530A>T (p.Lys177Met) c.641A>T (p.Lys214Met) c.555A>T (p.Glu185Asp) | gnomAD v4 |
19 | g.1106432_1106441dup | CA2576545170 | GPX4 | c.645_654dup (p.Pro219AlafsTer?) c.514_523dup (p.Thr175SerfsTer11) c.528_537dup (p.Pro180AlafsTer?) c.150_159dup (p.Pro54AlafsTer?) c.534_543dup (p.Pro182AlafsTer?) c.509_518dup (p.Asp173GlufsTer21) c.267_276dup (p.Pro93AlafsTer32) c.414_423dup (p.Pro142AlafsTer?) c.475_484dup (p.Thr162SerfsTer11) n.905_914dup c.514_523dup (p.Thr175SerfsTer?) c.453_462dup (p.Pro155AlafsTer?) c.531_540dup (p.Pro181AlafsTer?) c.642_651dup (p.Pro218AlafsTer?) c.556_565dup (p.Thr189SerfsTer11) | |
19 | g.1106432G>A | CA402939993 | GPX4 | c.645G>A (p.Lys215=) c.514G>A (p.Ala172Thr) c.528G>A (p.Lys176=) c.150G>A (p.Lys50=) c.534G>A (p.Lys178=) c.509G>A (p.Ser170Asn) c.267G>A (p.Lys89=) c.414G>A (p.Lys138=) c.475G>A (p.Ala159Thr) n.905G>A c.453G>A (p.Lys151=) c.531G>A (p.Lys177=) c.642G>A (p.Lys214=) c.556G>A (p.Ala186Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1106432G>C | CA402939996 | GPX4 | c.645G>C (p.Lys215Asn) c.514G>C (p.Ala172Pro) c.528G>C (p.Lys176Asn) c.150G>C (p.Lys50Asn) c.534G>C (p.Lys178Asn) c.509G>C (p.Ser170Thr) c.267G>C (p.Lys89Asn) c.414G>C (p.Lys138Asn) c.475G>C (p.Ala159Pro) n.905G>C c.453G>C (p.Lys151Asn) c.531G>C (p.Lys177Asn) c.642G>C (p.Lys214Asn) c.556G>C (p.Ala186Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1106432G= | CA2317520659 | GPX4 | c.645G= (p.Lys215=) c.514G= (p.Ala172=) c.528G= (p.Lys176=) c.150G= (p.Lys50=) c.534G= (p.Lys178=) c.509G= (p.Ser170=) c.267G= (p.Lys89=) c.414G= (p.Lys138=) c.475G= (p.Ala159=) n.905G= c.453G= (p.Lys151=) c.531G= (p.Lys177=) c.642G= (p.Lys214=) c.556G= (p.Ala186=) | |
19 | g.1106432G>T | CA402939999 | GPX4 | c.645G>T (p.Lys215Asn) c.514G>T (p.Ala172Ser) c.528G>T (p.Lys176Asn) c.150G>T (p.Lys50Asn) c.534G>T (p.Lys178Asn) c.509G>T (p.Ser170Ile) c.267G>T (p.Lys89Asn) c.414G>T (p.Lys138Asn) c.475G>T (p.Ala159Ser) n.905G>T c.453G>T (p.Lys151Asn) c.531G>T (p.Lys177Asn) c.642G>T (p.Lys214Asn) c.556G>T (p.Ala186Ser) | gnomAD v4 |
19 | g.1106433C>A | CA402940007 | GPX4 | c.646C>A (p.Arg216Ser) c.515C>A (p.Ala172Glu) c.529C>A (p.Arg177Ser) c.151C>A (p.Arg51Ser) c.535C>A (p.Arg179Ser) c.510C>A (p.Ser170Arg) c.268C>A (p.Arg90Ser) c.415C>A (p.Arg139Ser) c.476C>A (p.Ala159Glu) n.906C>A c.454C>A (p.Arg152Ser) c.532C>A (p.Arg178Ser) c.643C>A (p.Arg215Ser) c.557C>A (p.Ala186Glu) | |
19 | g.1106433C= | CA2317520660 | GPX4 | c.646C= (p.Arg216=) c.515C= (p.Ala172=) c.529C= (p.Arg177=) c.151C= (p.Arg51=) c.535C= (p.Arg179=) c.510C= (p.Ser170=) c.268C= (p.Arg90=) c.415C= (p.Arg139=) c.476C= (p.Ala159=) n.906C= c.454C= (p.Arg152=) c.532C= (p.Arg178=) c.643C= (p.Arg215=) c.557C= (p.Ala186=) | |
19 | g.1106433C>G | CA402940010 | GPX4 | c.646C>G (p.Arg216Gly) c.515C>G (p.Ala172Gly) c.529C>G (p.Arg177Gly) c.151C>G (p.Arg51Gly) c.535C>G (p.Arg179Gly) c.510C>G (p.Ser170Arg) c.268C>G (p.Arg90Gly) c.415C>G (p.Arg139Gly) c.476C>G (p.Ala159Gly) n.906C>G c.454C>G (p.Arg152Gly) c.532C>G (p.Arg178Gly) c.643C>G (p.Arg215Gly) c.557C>G (p.Ala186Gly) | |
19 | g.1106433C>T | CA9037476 | GPX4 | c.646C>T (p.Arg216Cys) c.515C>T (p.Ala172Val) c.529C>T (p.Arg177Cys) c.151C>T (p.Arg51Cys) c.535C>T (p.Arg179Cys) c.510C>T (p.Ser170=) c.268C>T (p.Arg90Cys) c.415C>T (p.Arg139Cys) c.476C>T (p.Ala159Val) n.906C>T c.454C>T (p.Arg152Cys) c.532C>T (p.Arg178Cys) c.643C>T (p.Arg215Cys) c.557C>T (p.Ala186Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106434G>A | CA9037477 | GPX4 | c.647G>A (p.Arg216His) c.516G>A (p.Ala172=) c.530G>A (p.Arg177His) c.152G>A (p.Arg51His) c.536G>A (p.Arg179His) c.511G>A (p.Ala171Thr) c.269G>A (p.Arg90His) c.416G>A (p.Arg139His) c.477G>A (p.Ala159=) n.907G>A c.455G>A (p.Arg152His) c.533G>A (p.Arg178His) c.644G>A (p.Arg215His) c.558G>A (p.Ala186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106434G>C | CA402940012 | GPX4 | c.647G>C (p.Arg216Pro) c.516G>C (p.Ala172=) c.530G>C (p.Arg177Pro) c.152G>C (p.Arg51Pro) c.536G>C (p.Arg179Pro) c.511G>C (p.Ala171Pro) c.269G>C (p.Arg90Pro) c.416G>C (p.Arg139Pro) c.477G>C (p.Ala159=) n.907G>C c.455G>C (p.Arg152Pro) c.533G>C (p.Arg178Pro) c.644G>C (p.Arg215Pro) c.558G>C (p.Ala186=) | dbSNP |
19 | g.1106434G= | CA2317520661 | GPX4 | c.647G= (p.Arg216=) c.516G= (p.Ala172=) c.530G= (p.Arg177=) c.152G= (p.Arg51=) c.536G= (p.Arg179=) c.511G= (p.Ala171=) c.269G= (p.Arg90=) c.416G= (p.Arg139=) c.477G= (p.Ala159=) n.907G= c.455G= (p.Arg152=) c.533G= (p.Arg178=) c.644G= (p.Arg215=) c.558G= (p.Ala186=) | |
19 | g.1106434G>T | CA402940011 | GPX4 | c.647G>T (p.Arg216Leu) c.516G>T (p.Ala172=) c.530G>T (p.Arg177Leu) c.152G>T (p.Arg51Leu) c.536G>T (p.Arg179Leu) c.511G>T (p.Ala171Ser) c.269G>T (p.Arg90Leu) c.416G>T (p.Arg139Leu) c.477G>T (p.Ala159=) n.907G>T c.455G>T (p.Arg152Leu) c.533G>T (p.Arg178Leu) c.644G>T (p.Arg215Leu) c.558G>T (p.Ala186=) | |
19 | g.1106435C>A | CA402940015 | GPX4 | c.648C>A (p.Arg216=) c.517C>A (p.Leu173Ile) c.531C>A (p.Arg177=) c.153C>A (p.Arg51=) c.537C>A (p.Arg179=) c.512C>A (p.Ala171Asp) c.270C>A (p.Arg90=) c.417C>A (p.Arg139=) c.478C>A (p.Leu160Ile) n.908C>A c.456C>A (p.Arg152=) c.534C>A (p.Arg178=) c.645C>A (p.Arg215=) c.559C>A (p.Leu187Ile) | |
19 | g.1106435C>G | CA402940019 | GPX4 | c.648C>G (p.Arg216=) c.517C>G (p.Leu173Val) c.531C>G (p.Arg177=) c.153C>G (p.Arg51=) c.537C>G (p.Arg179=) c.512C>G (p.Ala171Gly) c.270C>G (p.Arg90=) c.417C>G (p.Arg139=) c.478C>G (p.Leu160Val) n.908C>G c.456C>G (p.Arg152=) c.534C>G (p.Arg178=) c.645C>G (p.Arg215=) c.559C>G (p.Leu187Val) | |
19 | g.1106435C>T | CA402940017 | GPX4 | c.648C>T (p.Arg216=) c.517C>T (p.Leu173=) c.531C>T (p.Arg177=) c.153C>T (p.Arg51=) c.537C>T (p.Arg179=) c.512C>T (p.Ala171Val) c.270C>T (p.Arg90=) c.417C>T (p.Arg139=) c.478C>T (p.Leu160=) n.908C>T c.456C>T (p.Arg152=) c.534C>T (p.Arg178=) c.645C>T (p.Arg215=) c.559C>T (p.Leu187=) | |
19 | g.1106436T>A | CA402940022 | GPX4 | c.649T>A (p.Tyr217Asn) c.518T>A (p.Leu173Gln) c.532T>A (p.Tyr178Asn) c.154T>A (p.Tyr52Asn) c.538T>A (p.Tyr180Asn) c.513T>A (p.Ala171=) c.271T>A (p.Tyr91Asn) c.418T>A (p.Tyr140Asn) c.479T>A (p.Leu160Gln) n.909T>A c.457T>A (p.Tyr153Asn) c.535T>A (p.Tyr179Asn) c.646T>A (p.Tyr216Asn) c.560T>A (p.Leu187Gln) | |
19 | g.1106436T>C | CA402940025 | GPX4 | c.649T>C (p.Tyr217His) c.518T>C (p.Leu173Pro) c.532T>C (p.Tyr178His) c.154T>C (p.Tyr52His) c.538T>C (p.Tyr180His) c.513T>C (p.Ala171=) c.271T>C (p.Tyr91His) c.418T>C (p.Tyr140His) c.479T>C (p.Leu160Pro) n.909T>C c.457T>C (p.Tyr153His) c.535T>C (p.Tyr179His) c.646T>C (p.Tyr216His) c.560T>C (p.Leu187Pro) | gnomAD v4 |
19 | g.1106436T>G | CA402940029 | GPX4 | c.649T>G (p.Tyr217Asp) c.518T>G (p.Leu173Arg) c.532T>G (p.Tyr178Asp) c.154T>G (p.Tyr52Asp) c.538T>G (p.Tyr180Asp) c.513T>G (p.Ala171=) c.271T>G (p.Tyr91Asp) c.418T>G (p.Tyr140Asp) c.479T>G (p.Leu160Arg) n.909T>G c.457T>G (p.Tyr153Asp) c.535T>G (p.Tyr179Asp) c.646T>G (p.Tyr216Asp) c.560T>G (p.Leu187Arg) | |
19 | g.1106437A= | CA2317520662 | GPX4 | c.650A= (p.Tyr217=) c.519A= (p.Leu173=) c.533A= (p.Tyr178=) c.155A= (p.Tyr52=) c.539A= (p.Tyr180=) c.514A= (p.Thr172=) c.272A= (p.Tyr91=) c.419A= (p.Tyr140=) c.480A= (p.Leu160=) n.910A= c.458A= (p.Tyr153=) c.536A= (p.Tyr179=) c.647A= (p.Tyr216=) c.561A= (p.Leu187=) | |
19 | g.1106437A>C | CA402940034 | GPX4 | c.650A>C (p.Tyr217Ser) c.519A>C (p.Leu173=) c.533A>C (p.Tyr178Ser) c.155A>C (p.Tyr52Ser) c.539A>C (p.Tyr180Ser) c.514A>C (p.Thr172Pro) c.272A>C (p.Tyr91Ser) c.419A>C (p.Tyr140Ser) c.480A>C (p.Leu160=) n.910A>C c.458A>C (p.Tyr153Ser) c.536A>C (p.Tyr179Ser) c.647A>C (p.Tyr216Ser) c.561A>C (p.Leu187=) | |
19 | g.1106437A>G | CA402940037 | GPX4 | c.650A>G (p.Tyr217Cys) c.519A>G (p.Leu173=) c.533A>G (p.Tyr178Cys) c.155A>G (p.Tyr52Cys) c.539A>G (p.Tyr180Cys) c.514A>G (p.Thr172Ala) c.272A>G (p.Tyr91Cys) c.419A>G (p.Tyr140Cys) c.480A>G (p.Leu160=) n.910A>G c.458A>G (p.Tyr153Cys) c.536A>G (p.Tyr179Cys) c.647A>G (p.Tyr216Cys) c.561A>G (p.Leu187=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1106437A>T | CA402940040 | GPX4 | c.650A>T (p.Tyr217Phe) c.519A>T (p.Leu173=) c.533A>T (p.Tyr178Phe) c.155A>T (p.Tyr52Phe) c.539A>T (p.Tyr180Phe) c.514A>T (p.Thr172Ser) c.272A>T (p.Tyr91Phe) c.419A>T (p.Tyr140Phe) c.480A>T (p.Leu160=) n.910A>T c.458A>T (p.Tyr153Phe) c.536A>T (p.Tyr179Phe) c.647A>T (p.Tyr216Phe) c.561A>T (p.Leu187=) | |
19 | g.1106438C>A | CA402940042 | GPX4 | c.651C>A (p.Tyr217Ter) c.520C>A (p.Arg174=) c.534C>A (p.Tyr178Ter) c.156C>A (p.Tyr52Ter) c.540C>A (p.Tyr180Ter) c.515C>A (p.Thr172Lys) c.273C>A (p.Tyr91Ter) c.420C>A (p.Tyr140Ter) c.481C>A (p.Arg161=) n.911C>A c.459C>A (p.Tyr153Ter) c.537C>A (p.Tyr179Ter) c.648C>A (p.Tyr216Ter) c.562C>A (p.Arg188=) | |
19 | g.1106438C= | CA2317520663 | GPX4 | c.651C= (p.Tyr217=) c.520C= (p.Arg174=) c.534C= (p.Tyr178=) c.156C= (p.Tyr52=) c.540C= (p.Tyr180=) c.515C= (p.Thr172=) c.273C= (p.Tyr91=) c.420C= (p.Tyr140=) c.481C= (p.Arg161=) n.911C= c.459C= (p.Tyr153=) c.537C= (p.Tyr179=) c.648C= (p.Tyr216=) c.562C= (p.Arg188=) | |
19 | g.1106438C>G | CA9037479 | GPX4 | c.651C>G (p.Tyr217Ter) c.520C>G (p.Arg174Gly) c.534C>G (p.Tyr178Ter) c.156C>G (p.Tyr52Ter) c.540C>G (p.Tyr180Ter) c.515C>G (p.Thr172Arg) c.273C>G (p.Tyr91Ter) c.420C>G (p.Tyr140Ter) c.481C>G (p.Arg161Gly) n.911C>G c.459C>G (p.Tyr153Ter) c.537C>G (p.Tyr179Ter) c.648C>G (p.Tyr216Ter) c.562C>G (p.Arg188Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106438C>T | CA9037478 | GPX4 | c.651C>T (p.Tyr217=) c.520C>T (p.Arg174Trp) c.534C>T (p.Tyr178=) c.156C>T (p.Tyr52=) c.540C>T (p.Tyr180=) c.515C>T (p.Thr172Met) c.273C>T (p.Tyr91=) c.420C>T (p.Tyr140=) c.481C>T (p.Arg161Trp) n.911C>T c.459C>T (p.Tyr153=) c.537C>T (p.Tyr179=) c.648C>T (p.Tyr216=) c.562C>T (p.Arg188Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1106439G>A | CA9037480 | GPX4 | c.652G>A (p.Gly218Arg) c.521G>A (p.Arg174Gln) c.535G>A (p.Gly179Arg) c.157G>A (p.Gly53Arg) c.541G>A (p.Gly181Arg) c.516G>A (p.Thr172=) c.274G>A (p.Gly92Arg) c.421G>A (p.Gly141Arg) c.482G>A (p.Arg161Gln) n.912G>A c.460G>A (p.Gly154Arg) c.538G>A (p.Gly180Arg) c.649G>A (p.Gly217Arg) c.563G>A (p.Arg188Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106439G>C | CA402940055 | GPX4 | c.652G>C (p.Gly218Arg) c.521G>C (p.Arg174Pro) c.535G>C (p.Gly179Arg) c.157G>C (p.Gly53Arg) c.541G>C (p.Gly181Arg) c.516G>C (p.Thr172=) c.274G>C (p.Gly92Arg) c.421G>C (p.Gly141Arg) c.482G>C (p.Arg161Pro) n.912G>C c.460G>C (p.Gly154Arg) c.538G>C (p.Gly180Arg) c.649G>C (p.Gly217Arg) c.563G>C (p.Arg188Pro) | |
19 | g.1106439G= | CA2317520664 | GPX4 | c.652G= (p.Gly218=) c.521G= (p.Arg174=) c.535G= (p.Gly179=) c.157G= (p.Gly53=) c.541G= (p.Gly181=) c.516G= (p.Thr172=) c.274G= (p.Gly92=) c.421G= (p.Gly141=) c.482G= (p.Arg161=) n.912G= c.460G= (p.Gly154=) c.538G= (p.Gly180=) c.649G= (p.Gly217=) c.563G= (p.Arg188=) | |
19 | g.1106439G>T | CA402940058 | GPX4 | c.652G>T (p.Gly218Ter) c.521G>T (p.Arg174Leu) c.535G>T (p.Gly179Ter) c.157G>T (p.Gly53Ter) c.541G>T (p.Gly181Ter) c.516G>T (p.Thr172=) c.274G>T (p.Gly92Ter) c.421G>T (p.Gly141Ter) c.482G>T (p.Arg161Leu) n.912G>T c.460G>T (p.Gly154Ter) c.538G>T (p.Gly180Ter) c.649G>T (p.Gly217Ter) c.563G>T (p.Arg188Leu) | |
19 | g.1106439_1106440delinsAA | CA645603782 | GPX4 | c.652_653delinsAA (p.Gly218Lys) c.521_522delinsAA (p.Arg174Gln) c.535_536delinsAA (p.Gly179Lys) c.157_158delinsAA (p.Gly53Lys) c.541_542delinsAA (p.Gly181Lys) c.516_517delinsAA (p.Asp173Asn) c.274_275delinsAA (p.Gly92Lys) c.421_422delinsAA (p.Gly141Lys) c.482_483delinsAA (p.Arg161Gln) n.912_913delinsAA c.460_461delinsAA (p.Gly154Lys) c.538_539delinsAA (p.Gly180Lys) c.649_650delinsAA (p.Gly217Lys) c.563_564delinsAA (p.Arg188Gln) | COSMIC |
19 | g.1106440G>A | CA402940064 | GPX4 | c.653G>A (p.Gly218Glu) c.522G>A (p.Arg174=) c.536G>A (p.Gly179Glu) c.158G>A (p.Gly53Glu) c.542G>A (p.Gly181Glu) c.517G>A (p.Asp173Asn) c.275G>A (p.Gly92Glu) c.422G>A (p.Gly141Glu) c.483G>A (p.Arg161=) n.913G>A c.461G>A (p.Gly154Glu) c.539G>A (p.Gly180Glu) c.650G>A (p.Gly217Glu) c.564G>A (p.Arg188=) | gnomAD v4 |
19 | g.1106440G>C | CA402940068 | GPX4 | c.653G>C (p.Gly218Ala) c.522G>C (p.Arg174=) c.536G>C (p.Gly179Ala) c.158G>C (p.Gly53Ala) c.542G>C (p.Gly181Ala) c.517G>C (p.Asp173His) c.275G>C (p.Gly92Ala) c.422G>C (p.Gly141Ala) c.483G>C (p.Arg161=) n.913G>C c.461G>C (p.Gly154Ala) c.539G>C (p.Gly180Ala) c.650G>C (p.Gly217Ala) c.564G>C (p.Arg188=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1106440G= | CA2317520665 | GPX4 | c.653G= (p.Gly218=) c.522G= (p.Arg174=) c.536G= (p.Gly179=) c.158G= (p.Gly53=) c.542G= (p.Gly181=) c.517G= (p.Asp173=) c.275G= (p.Gly92=) c.422G= (p.Gly141=) c.483G= (p.Arg161=) n.913G= c.461G= (p.Gly154=) c.539G= (p.Gly180=) c.650G= (p.Gly217=) c.564G= (p.Arg188=) | |
19 | g.1106440G>T | CA402940067 | GPX4 | c.653G>T (p.Gly218Val) c.522G>T (p.Arg174=) c.536G>T (p.Gly179Val) c.158G>T (p.Gly53Val) c.542G>T (p.Gly181Val) c.517G>T (p.Asp173Tyr) c.275G>T (p.Gly92Val) c.422G>T (p.Gly141Val) c.483G>T (p.Arg161=) n.913G>T c.461G>T (p.Gly154Val) c.539G>T (p.Gly180Val) c.650G>T (p.Gly217Val) c.564G>T (p.Arg188=) | |
19 | g.1106441A= | CA2317520666 | GPX4 | c.654A= (p.Gly218=) c.523A= (p.Thr175=) c.537A= (p.Gly179=) c.159A= (p.Gly53=) c.543A= (p.Gly181=) c.518A= (p.Asp173=) c.276A= (p.Gly92=) c.423A= (p.Gly141=) c.484A= (p.Thr162=) n.914A= c.462A= (p.Gly154=) c.540A= (p.Gly180=) c.651A= (p.Gly217=) c.565A= (p.Thr189=) | |
19 | g.1106441A>C | CA402940069 | GPX4 | c.654A>C (p.Gly218=) c.523A>C (p.Thr175Pro) c.537A>C (p.Gly179=) c.159A>C (p.Gly53=) c.543A>C (p.Gly181=) c.518A>C (p.Asp173Ala) c.276A>C (p.Gly92=) c.423A>C (p.Gly141=) c.484A>C (p.Thr162Pro) n.914A>C c.462A>C (p.Gly154=) c.540A>C (p.Gly180=) c.651A>C (p.Gly217=) c.565A>C (p.Thr189Pro) | |
19 | g.1106441A>G | CA402940071 | GPX4 | c.654A>G (p.Gly218=) c.523A>G (p.Thr175Ala) c.537A>G (p.Gly179=) c.159A>G (p.Gly53=) c.543A>G (p.Gly181=) c.518A>G (p.Asp173Gly) c.276A>G (p.Gly92=) c.423A>G (p.Gly141=) c.484A>G (p.Thr162Ala) n.914A>G c.462A>G (p.Gly154=) c.540A>G (p.Gly180=) c.651A>G (p.Gly217=) c.565A>G (p.Thr189Ala) | |
19 | g.1106441A>T | CA402940074 | GPX4 | c.654A>T (p.Gly218=) c.523A>T (p.Thr175Ser) c.537A>T (p.Gly179=) c.159A>T (p.Gly53=) c.543A>T (p.Gly181=) c.518A>T (p.Asp173Val) c.276A>T (p.Gly92=) c.423A>T (p.Gly141=) c.484A>T (p.Thr162Ser) n.914A>T c.462A>T (p.Gly154=) c.540A>T (p.Gly180=) c.651A>T (p.Gly217=) c.565A>T (p.Thr189Ser) | dbSNP |
19 | g.1106442C>A | CA402940078 | GPX4 | c.655C>A (p.Pro219Thr) c.524C>A (p.Thr175Asn) c.538C>A (p.Pro180Thr) c.160C>A (p.Pro54Thr) c.544C>A (p.Pro182Thr) c.519C>A (p.Asp173Glu) c.277C>A (p.Pro93Thr) c.424C>A (p.Pro142Thr) c.485C>A (p.Thr162Asn) n.915C>A c.463C>A (p.Pro155Thr) c.541C>A (p.Pro181Thr) c.652C>A (p.Pro218Thr) c.566C>A (p.Thr189Asn) | |
19 | g.1106442C= | CA2317520667 | GPX4 | c.655C= (p.Pro219=) c.524C= (p.Thr175=) c.538C= (p.Pro180=) c.160C= (p.Pro54=) c.544C= (p.Pro182=) c.519C= (p.Asp173=) c.277C= (p.Pro93=) c.424C= (p.Pro142=) c.485C= (p.Thr162=) n.915C= c.463C= (p.Pro155=) c.541C= (p.Pro181=) c.652C= (p.Pro218=) c.566C= (p.Thr189=) | |
19 | g.1106442C>G | CA402940080 | GPX4 | c.655C>G (p.Pro219Ala) c.524C>G (p.Thr175Ser) c.538C>G (p.Pro180Ala) c.160C>G (p.Pro54Ala) c.544C>G (p.Pro182Ala) c.519C>G (p.Asp173Glu) c.277C>G (p.Pro93Ala) c.424C>G (p.Pro142Ala) c.485C>G (p.Thr162Ser) n.915C>G c.463C>G (p.Pro155Ala) c.541C>G (p.Pro181Ala) c.652C>G (p.Pro218Ala) c.566C>G (p.Thr189Ser) | |
19 | g.1106442C>T | CA9037481 | GPX4 | c.655C>T (p.Pro219Ser) c.524C>T (p.Thr175Ile) c.538C>T (p.Pro180Ser) c.160C>T (p.Pro54Ser) c.544C>T (p.Pro182Ser) c.519C>T (p.Asp173=) c.277C>T (p.Pro93Ser) c.424C>T (p.Pro142Ser) c.485C>T (p.Thr162Ile) n.915C>T c.463C>T (p.Pro155Ser) c.541C>T (p.Pro181Ser) c.652C>T (p.Pro218Ser) c.566C>T (p.Thr189Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1106443C>A | CA402940085 | GPX4 | c.656C>A (p.Pro219His) c.525C>A (p.Thr175=) c.539C>A (p.Pro180His) c.161C>A (p.Pro54His) c.545C>A (p.Pro182His) c.520C>A (p.Pro174Thr) c.278C>A (p.Pro93His) c.425C>A (p.Pro142His) c.486C>A (p.Thr162=) n.916C>A c.464C>A (p.Pro155His) c.542C>A (p.Pro181His) c.653C>A (p.Pro218His) c.567C>A (p.Thr189=) | |
19 | g.1106443C>G | CA402940086 | GPX4 | c.656C>G (p.Pro219Arg) c.525C>G (p.Thr175=) c.539C>G (p.Pro180Arg) c.161C>G (p.Pro54Arg) c.545C>G (p.Pro182Arg) c.520C>G (p.Pro174Ala) c.278C>G (p.Pro93Arg) c.425C>G (p.Pro142Arg) c.486C>G (p.Thr162=) n.916C>G c.464C>G (p.Pro155Arg) c.542C>G (p.Pro181Arg) c.653C>G (p.Pro218Arg) c.567C>G (p.Thr189=) | |
19 | g.1106443C>T | CA402940088 | GPX4 | c.656C>T (p.Pro219Leu) c.525C>T (p.Thr175=) c.539C>T (p.Pro180Leu) c.161C>T (p.Pro54Leu) c.545C>T (p.Pro182Leu) c.520C>T (p.Pro174Ser) c.278C>T (p.Pro93Leu) c.425C>T (p.Pro142Leu) c.486C>T (p.Thr162=) n.916C>T c.464C>T (p.Pro155Leu) c.542C>T (p.Pro181Leu) c.653C>T (p.Pro218Leu) c.567C>T (p.Thr189=) | ClinVar |
19 | g.1106444C>A | CA402940092 | GPX4 | c.657C>A (p.Pro219=) c.526C>A (p.His176Asn) c.540C>A (p.Pro180=) c.162C>A (p.Pro54=) c.546C>A (p.Pro182=) c.521C>A (p.Pro174Gln) c.279C>A (p.Pro93=) c.426C>A (p.Pro142=) c.487C>A (p.His163Asn) n.917C>A c.465C>A (p.Pro155=) c.543C>A (p.Pro181=) c.654C>A (p.Pro218=) c.568C>A (p.His190Asn) | |
19 | g.1106444C>G | CA402940094 | GPX4 | c.657C>G (p.Pro219=) c.526C>G (p.His176Asp) c.540C>G (p.Pro180=) c.162C>G (p.Pro54=) c.546C>G (p.Pro182=) c.521C>G (p.Pro174Arg) c.279C>G (p.Pro93=) c.426C>G (p.Pro142=) c.487C>G (p.His163Asp) n.917C>G c.465C>G (p.Pro155=) c.543C>G (p.Pro181=) c.654C>G (p.Pro218=) c.568C>G (p.His190Asp) | |
19 | g.1106444C>T | CA402940090 | GPX4 | c.657C>T (p.Pro219=) c.526C>T (p.His176Tyr) c.540C>T (p.Pro180=) c.162C>T (p.Pro54=) c.546C>T (p.Pro182=) c.521C>T (p.Pro174Leu) c.279C>T (p.Pro93=) c.426C>T (p.Pro142=) c.487C>T (p.His163Tyr) n.917C>T c.465C>T (p.Pro155=) c.543C>T (p.Pro181=) c.654C>T (p.Pro218=) c.568C>T (p.His190Tyr) | gnomAD v4 |
19 | g.1106445A= | CA2317520668 | GPX4 | c.658A= (p.Met220=) c.527A= (p.His176=) c.541A= (p.Met181=) c.163A= (p.Met55=) c.547A= (p.Met183=) c.522A= (p.Pro174=) c.280A= (p.Met94=) c.427A= (p.Met143=) c.488A= (p.His163=) n.918A= c.466A= (p.Met156=) c.544A= (p.Met182=) c.655A= (p.Met219=) c.569A= (p.His190=) | |
19 | g.1106445A>C | CA402940096 | GPX4 | c.658A>C (p.Met220Leu) c.527A>C (p.His176Pro) c.541A>C (p.Met181Leu) c.163A>C (p.Met55Leu) c.547A>C (p.Met183Leu) c.522A>C (p.Pro174=) c.280A>C (p.Met94Leu) c.427A>C (p.Met143Leu) c.488A>C (p.His163Pro) n.918A>C c.466A>C (p.Met156Leu) c.544A>C (p.Met182Leu) c.655A>C (p.Met219Leu) c.569A>C (p.His190Pro) | |
19 | g.1106445A>G | CA303994953 | GPX4 | c.658A>G (p.Met220Val) c.527A>G (p.His176Arg) c.541A>G (p.Met181Val) c.163A>G (p.Met55Val) c.547A>G (p.Met183Val) c.522A>G (p.Pro174=) c.280A>G (p.Met94Val) c.427A>G (p.Met143Val) c.488A>G (p.His163Arg) n.918A>G c.466A>G (p.Met156Val) c.544A>G (p.Met182Val) c.655A>G (p.Met219Val) c.569A>G (p.His190Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106445A>T | CA402940097 | GPX4 | c.658A>T (p.Met220Leu) c.527A>T (p.His176Leu) c.541A>T (p.Met181Leu) c.163A>T (p.Met55Leu) c.547A>T (p.Met183Leu) c.522A>T (p.Pro174=) c.280A>T (p.Met94Leu) c.427A>T (p.Met143Leu) c.488A>T (p.His163Leu) n.918A>T c.466A>T (p.Met156Leu) c.544A>T (p.Met182Leu) c.655A>T (p.Met219Leu) c.569A>T (p.His190Leu) | |
19 | g.1106446T>A | CA402940098 | GPX4 | c.659T>A (p.Met220Lys) c.528T>A (p.His176Gln) c.542T>A (p.Met181Lys) c.164T>A (p.Met55Lys) c.548T>A (p.Met183Lys) c.523T>A (p.Trp175Arg) c.281T>A (p.Met94Lys) c.428T>A (p.Met143Lys) c.489T>A (p.His163Gln) n.919T>A c.467T>A (p.Met156Lys) c.545T>A (p.Met182Lys) c.656T>A (p.Met219Lys) c.570T>A (p.His190Gln) | gnomAD v4 |
19 | g.1106446T>C | CA9037482 | GPX4 | c.659T>C (p.Met220Thr) c.528T>C (p.His176=) c.542T>C (p.Met181Thr) c.164T>C (p.Met55Thr) c.548T>C (p.Met183Thr) c.523T>C (p.Trp175Arg) c.281T>C (p.Met94Thr) c.428T>C (p.Met143Thr) c.489T>C (p.His163=) n.919T>C c.467T>C (p.Met156Thr) c.545T>C (p.Met182Thr) c.656T>C (p.Met219Thr) c.570T>C (p.His190=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106446T>G | CA402940101 | GPX4 | c.659T>G (p.Met220Arg) c.528T>G (p.His176Gln) c.542T>G (p.Met181Arg) c.164T>G (p.Met55Arg) c.548T>G (p.Met183Arg) c.523T>G (p.Trp175Gly) c.281T>G (p.Met94Arg) c.428T>G (p.Met143Arg) c.489T>G (p.His163Gln) n.919T>G c.467T>G (p.Met156Arg) c.545T>G (p.Met182Arg) c.656T>G (p.Met219Arg) c.570T>G (p.His190Gln) | |
19 | g.1106446T= | CA2317520669 | GPX4 | c.659T= (p.Met220=) c.528T= (p.His176=) c.542T= (p.Met181=) c.164T= (p.Met55=) c.548T= (p.Met183=) c.523T= (p.Trp175=) c.281T= (p.Met94=) c.428T= (p.Met143=) c.489T= (p.His163=) n.919T= c.467T= (p.Met156=) c.545T= (p.Met182=) c.656T= (p.Met219=) c.570T= (p.His190=) | |
19 | g.1106447G>A | CA402940103 | GPX4 | c.660G>A (p.Met220Ile) c.529G>A (p.Gly177Arg) c.543G>A (p.Met181Ile) c.165G>A (p.Met55Ile) c.549G>A (p.Met183Ile) c.524G>A (p.Trp175Ter) c.282G>A (p.Met94Ile) c.429G>A (p.Met143Ile) c.490G>A (p.Gly164Arg) n.920G>A c.468G>A (p.Met156Ile) c.546G>A (p.Met182Ile) c.657G>A (p.Met219Ile) c.571G>A (p.Gly191Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1106447G>C | CA402940105 | GPX4 | c.660G>C (p.Met220Ile) c.529G>C (p.Gly177Arg) c.543G>C (p.Met181Ile) c.165G>C (p.Met55Ile) c.549G>C (p.Met183Ile) c.524G>C (p.Trp175Ser) c.282G>C (p.Met94Ile) c.429G>C (p.Met143Ile) c.490G>C (p.Gly164Arg) n.920G>C c.468G>C (p.Met156Ile) c.546G>C (p.Met182Ile) c.657G>C (p.Met219Ile) c.571G>C (p.Gly191Arg) | |
19 | g.1106447G= | CA2317520670 | GPX4 | c.660G= (p.Met220=) c.529G= (p.Gly177=) c.543G= (p.Met181=) c.165G= (p.Met55=) c.549G= (p.Met183=) c.524G= (p.Trp175=) c.282G= (p.Met94=) c.429G= (p.Met143=) c.490G= (p.Gly164=) n.920G= c.468G= (p.Met156=) c.546G= (p.Met182=) c.657G= (p.Met219=) c.571G= (p.Gly191=) | |
19 | g.1106447G>T | CA402940106 | GPX4 | c.660G>T (p.Met220Ile) c.529G>T (p.Gly177Ter) c.543G>T (p.Met181Ile) c.165G>T (p.Met55Ile) c.549G>T (p.Met183Ile) c.524G>T (p.Trp175Leu) c.282G>T (p.Met94Ile) c.429G>T (p.Met143Ile) c.490G>T (p.Gly164Ter) n.920G>T c.468G>T (p.Met156Ile) c.546G>T (p.Met182Ile) c.657G>T (p.Met219Ile) c.571G>T (p.Gly191Ter) | |
19 | g.1106448G>A | CA402940107 | GPX4 | c.661G>A (p.Glu221Lys) c.530G>A (p.Gly177Glu) c.544G>A (p.Glu182Lys) c.166G>A (p.Glu56Lys) c.550G>A (p.Glu184Lys) c.525G>A (p.Trp175Ter) c.283G>A (p.Glu95Lys) c.430G>A (p.Glu144Lys) c.491G>A (p.Gly164Glu) n.921G>A c.469G>A (p.Glu157Lys) c.547G>A (p.Glu183Lys) c.658G>A (p.Glu220Lys) c.572G>A (p.Gly191Glu) | |
19 | g.1106448G>C | CA402940109 | GPX4 | c.661G>C (p.Glu221Gln) c.530G>C (p.Gly177Ala) c.544G>C (p.Glu182Gln) c.166G>C (p.Glu56Gln) c.550G>C (p.Glu184Gln) c.525G>C (p.Trp175Cys) c.283G>C (p.Glu95Gln) c.430G>C (p.Glu144Gln) c.491G>C (p.Gly164Ala) n.921G>C c.469G>C (p.Glu157Gln) c.547G>C (p.Glu183Gln) c.658G>C (p.Glu220Gln) c.572G>C (p.Gly191Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1106448G= | CA2317520671 | GPX4 | c.661G= (p.Glu221=) c.530G= (p.Gly177=) c.544G= (p.Glu182=) c.166G= (p.Glu56=) c.550G= (p.Glu184=) c.525G= (p.Trp175=) c.283G= (p.Glu95=) c.430G= (p.Glu144=) c.491G= (p.Gly164=) n.921G= c.469G= (p.Glu157=) c.547G= (p.Glu183=) c.658G= (p.Glu220=) c.572G= (p.Gly191=) | |
19 | g.1106448G>T | CA9037483 | GPX4 | c.661G>T (p.Glu221Ter) c.530G>T (p.Gly177Val) c.544G>T (p.Glu182Ter) c.166G>T (p.Glu56Ter) c.550G>T (p.Glu184Ter) c.525G>T (p.Trp175Cys) c.283G>T (p.Glu95Ter) c.430G>T (p.Glu144Ter) c.491G>T (p.Gly164Val) n.921G>T c.469G>T (p.Glu157Ter) c.547G>T (p.Glu183Ter) c.658G>T (p.Glu220Ter) c.572G>T (p.Gly191Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1106449A>C | CA402940115 | GPX4 | c.662A>C (p.Glu221Ala) c.531A>C (p.Gly177=) c.545A>C (p.Glu182Ala) c.167A>C (p.Glu56Ala) c.551A>C (p.Glu184Ala) c.526A>C (p.Arg176=) c.284A>C (p.Glu95Ala) c.431A>C (p.Glu144Ala) c.492A>C (p.Gly164=) n.922A>C c.470A>C (p.Glu157Ala) c.548A>C (p.Glu183Ala) c.659A>C (p.Glu220Ala) c.573A>C (p.Gly191=) | |
19 | g.1106449A>G | CA402940112 | GPX4 | c.662A>G (p.Glu221Gly) c.531A>G (p.Gly177=) c.545A>G (p.Glu182Gly) c.167A>G (p.Glu56Gly) c.551A>G (p.Glu184Gly) c.526A>G (p.Arg176Gly) c.284A>G (p.Glu95Gly) c.431A>G (p.Glu144Gly) c.492A>G (p.Gly164=) n.922A>G c.470A>G (p.Glu157Gly) c.548A>G (p.Glu183Gly) c.659A>G (p.Glu220Gly) c.573A>G (p.Gly191=) | |
19 | g.1106449A>T | CA402940114 | GPX4 | c.662A>T (p.Glu221Val) c.531A>T (p.Gly177=) c.545A>T (p.Glu182Val) c.167A>T (p.Glu56Val) c.551A>T (p.Glu184Val) c.526A>T (p.Arg176Trp) c.284A>T (p.Glu95Val) c.431A>T (p.Glu144Val) c.492A>T (p.Gly164=) n.922A>T c.470A>T (p.Glu157Val) c.548A>T (p.Glu183Val) c.659A>T (p.Glu220Val) c.573A>T (p.Gly191=) | |
19 | g.1106450G>A | CA402940121 | GPX4 | c.663G>A (p.Glu221=) c.532G>A (p.Gly178Arg) c.546G>A (p.Glu182=) c.168G>A (p.Glu56=) c.552G>A (p.Glu184=) c.527G>A (p.Arg176Lys) c.285G>A (p.Glu95=) c.432G>A (p.Glu144=) c.493G>A (p.Gly165Arg) n.923G>A c.471G>A (p.Glu157=) c.549G>A (p.Glu183=) c.660G>A (p.Glu220=) c.574G>A (p.Gly192Arg) | |
19 | g.1106450G>C | CA402940125 | GPX4 | c.663G>C (p.Glu221Asp) c.532G>C (p.Gly178Arg) c.546G>C (p.Glu182Asp) c.168G>C (p.Glu56Asp) c.552G>C (p.Glu184Asp) c.527G>C (p.Arg176Thr) c.285G>C (p.Glu95Asp) c.432G>C (p.Glu144Asp) c.493G>C (p.Gly165Arg) n.923G>C c.471G>C (p.Glu157Asp) c.549G>C (p.Glu183Asp) c.660G>C (p.Glu220Asp) c.574G>C (p.Gly192Arg) | |
19 | g.1106450G= | CA2317520672 | GPX4 | c.663G= (p.Glu221=) c.532G= (p.Gly178=) c.546G= (p.Glu182=) c.168G= (p.Glu56=) c.552G= (p.Glu184=) c.527G= (p.Arg176=) c.285G= (p.Glu95=) c.432G= (p.Glu144=) c.493G= (p.Gly165=) n.923G= c.471G= (p.Glu157=) c.549G= (p.Glu183=) c.660G= (p.Glu220=) c.574G= (p.Gly192=) | |
19 | g.1106450G>T | CA9037484 | GPX4 | c.663G>T (p.Glu221Asp) c.532G>T (p.Gly178Ter) c.546G>T (p.Glu182Asp) c.168G>T (p.Glu56Asp) c.552G>T (p.Glu184Asp) c.527G>T (p.Arg176Met) c.285G>T (p.Glu95Asp) c.432G>T (p.Glu144Asp) c.493G>T (p.Gly165Ter) n.923G>T c.471G>T (p.Glu157Asp) c.549G>T (p.Glu183Asp) c.660G>T (p.Glu220Asp) c.574G>T (p.Gly192Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106451G>A | CA402940130 | GPX4 | c.664G>A (p.Glu222Lys) c.533G>A (p.Gly178Glu) c.547G>A (p.Glu183Lys) c.169G>A (p.Glu57Lys) c.553G>A (p.Glu185Lys) c.528G>A (p.Arg176=) c.286G>A (p.Glu96Lys) c.433G>A (p.Glu145Lys) c.494G>A (p.Gly165Glu) n.924G>A c.472G>A (p.Glu158Lys) c.550G>A (p.Glu184Lys) c.661G>A (p.Glu221Lys) c.575G>A (p.Gly192Glu) | gnomAD v4 |
19 | g.1106451G>C | CA402940133 | GPX4 | c.664G>C (p.Glu222Gln) c.533G>C (p.Gly178Ala) c.547G>C (p.Glu183Gln) c.169G>C (p.Glu57Gln) c.553G>C (p.Glu185Gln) c.528G>C (p.Arg176Ser) c.286G>C (p.Glu96Gln) c.433G>C (p.Glu145Gln) c.494G>C (p.Gly165Ala) n.924G>C c.472G>C (p.Glu158Gln) c.550G>C (p.Glu184Gln) c.661G>C (p.Glu221Gln) c.575G>C (p.Gly192Ala) | |
19 | g.1106451G>T | CA402940137 | GPX4 | c.664G>T (p.Glu222Ter) c.533G>T (p.Gly178Val) c.547G>T (p.Glu183Ter) c.169G>T (p.Glu57Ter) c.553G>T (p.Glu185Ter) c.528G>T (p.Arg176Ser) c.286G>T (p.Glu96Ter) c.433G>T (p.Glu145Ter) c.494G>T (p.Gly165Val) n.924G>T c.472G>T (p.Glu158Ter) c.550G>T (p.Glu184Ter) c.661G>T (p.Glu221Ter) c.575G>T (p.Gly192Val) | |
19 | g.1106452A>C | CA402940140 | GPX4 | c.665A>C (p.Glu222Ala) c.534A>C (p.Gly178=) c.548A>C (p.Glu183Ala) c.170A>C (p.Glu57Ala) c.554A>C (p.Glu185Ala) c.529A>C (p.Ser177Arg) c.287A>C (p.Glu96Ala) c.434A>C (p.Glu145Ala) c.495A>C (p.Gly165=) n.925A>C c.473A>C (p.Glu158Ala) c.551A>C (p.Glu184Ala) c.662A>C (p.Glu221Ala) c.576A>C (p.Gly192=) | |
19 | g.1106452A>G | CA402940143 | GPX4 | c.665A>G (p.Glu222Gly) c.534A>G (p.Gly178=) c.548A>G (p.Glu183Gly) c.170A>G (p.Glu57Gly) c.554A>G (p.Glu185Gly) c.529A>G (p.Ser177Gly) c.287A>G (p.Glu96Gly) c.434A>G (p.Glu145Gly) c.495A>G (p.Gly165=) n.925A>G c.473A>G (p.Glu158Gly) c.551A>G (p.Glu184Gly) c.662A>G (p.Glu221Gly) c.576A>G (p.Gly192=) | |
19 | g.1106452A>T | CA402940146 | GPX4 | c.665A>T (p.Glu222Val) c.534A>T (p.Gly178=) c.548A>T (p.Glu183Val) c.170A>T (p.Glu57Val) c.554A>T (p.Glu185Val) c.529A>T (p.Ser177Cys) c.287A>T (p.Glu96Val) c.434A>T (p.Glu145Val) c.495A>T (p.Gly165=) n.925A>T c.473A>T (p.Glu158Val) c.551A>T (p.Glu184Val) c.662A>T (p.Glu221Val) c.576A>T (p.Gly192=) | |
19 | g.1106453G>A | CA9037485 | GPX4 | c.666G>A (p.Glu222=) c.535G>A (p.Ala179Thr) c.549G>A (p.Glu183=) c.171G>A (p.Glu57=) c.555G>A (p.Glu185=) c.530G>A (p.Ser177Asn) c.288G>A (p.Glu96=) c.435G>A (p.Glu145=) c.496G>A (p.Ala166Thr) n.926G>A c.474G>A (p.Glu158=) c.552G>A (p.Glu184=) c.663G>A (p.Glu221=) c.577G>A (p.Ala193Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1106453G>C | CA402940153 | GPX4 | c.666G>C (p.Glu222Asp) c.535G>C (p.Ala179Pro) c.549G>C (p.Glu183Asp) c.171G>C (p.Glu57Asp) c.555G>C (p.Glu185Asp) c.530G>C (p.Ser177Thr) c.288G>C (p.Glu96Asp) c.435G>C (p.Glu145Asp) c.496G>C (p.Ala166Pro) n.926G>C c.474G>C (p.Glu158Asp) c.552G>C (p.Glu184Asp) c.663G>C (p.Glu221Asp) c.577G>C (p.Ala193Pro) | |
19 | g.1106453G= | CA2317520673 | GPX4 | c.666G= (p.Glu222=) c.535G= (p.Ala179=) c.549G= (p.Glu183=) c.171G= (p.Glu57=) c.555G= (p.Glu185=) c.530G= (p.Ser177=) c.288G= (p.Glu96=) c.435G= (p.Glu145=) c.496G= (p.Ala166=) n.926G= c.474G= (p.Glu158=) c.552G= (p.Glu184=) c.663G= (p.Glu221=) c.577G= (p.Ala193=) | |
19 | g.1106453G>T | CA402940154 | GPX4 | c.666G>T (p.Glu222Asp) c.535G>T (p.Ala179Ser) c.549G>T (p.Glu183Asp) c.171G>T (p.Glu57Asp) c.555G>T (p.Glu185Asp) c.530G>T (p.Ser177Ile) c.288G>T (p.Glu96Asp) c.435G>T (p.Glu145Asp) c.496G>T (p.Ala166Ser) n.926G>T c.474G>T (p.Glu158Asp) c.552G>T (p.Glu184Asp) c.663G>T (p.Glu221Asp) c.577G>T (p.Ala193Ser) | |
19 | g.1106454C>A | CA402940163 | GPX4 | c.667C>A (p.Pro223Thr) c.536C>A (p.Ala179Asp) c.550C>A (p.Pro184Thr) c.172C>A (p.Pro58Thr) c.556C>A (p.Pro186Thr) c.531C>A (p.Ser177Arg) c.289C>A (p.Pro97Thr) c.436C>A (p.Pro146Thr) c.497C>A (p.Ala166Asp) n.927C>A c.475C>A (p.Pro159Thr) c.553C>A (p.Pro185Thr) c.664C>A (p.Pro222Thr) c.578C>A (p.Ala193Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1106454C= | CA2317520674 | GPX4 | c.667C= (p.Pro223=) c.536C= (p.Ala179=) c.550C= (p.Pro184=) c.172C= (p.Pro58=) c.556C= (p.Pro186=) c.531C= (p.Ser177=) c.289C= (p.Pro97=) c.436C= (p.Pro146=) c.497C= (p.Ala166=) n.927C= c.475C= (p.Pro159=) c.553C= (p.Pro185=) c.664C= (p.Pro222=) c.578C= (p.Ala193=) | |
19 | g.1106454C>G | CA402940162 | GPX4 | c.667C>G (p.Pro223Ala) c.536C>G (p.Ala179Gly) c.550C>G (p.Pro184Ala) c.172C>G (p.Pro58Ala) c.556C>G (p.Pro186Ala) c.531C>G (p.Ser177Arg) c.289C>G (p.Pro97Ala) c.436C>G (p.Pro146Ala) c.497C>G (p.Ala166Gly) n.927C>G c.475C>G (p.Pro159Ala) c.553C>G (p.Pro185Ala) c.664C>G (p.Pro222Ala) c.578C>G (p.Ala193Gly) | |
19 | g.1106454C>T | CA402940159 | GPX4 | c.667C>T (p.Pro223Ser) c.536C>T (p.Ala179Val) c.550C>T (p.Pro184Ser) c.172C>T (p.Pro58Ser) c.556C>T (p.Pro186Ser) c.531C>T (p.Ser177=) c.289C>T (p.Pro97Ser) c.436C>T (p.Pro146Ser) c.497C>T (p.Ala166Val) n.927C>T c.475C>T (p.Pro159Ser) c.553C>T (p.Pro185Ser) c.664C>T (p.Pro222Ser) c.578C>T (p.Ala193Val) | |
19 | g.1106455C>A | CA402940164 | GPX4 | c.668C>A (p.Pro223His) c.537C>A (p.Ala179=) c.551C>A (p.Pro184His) c.173C>A (p.Pro58His) c.557C>A (p.Pro186His) c.532C>A (p.Pro178Thr) c.290C>A (p.Pro97His) c.437C>A (p.Pro146His) c.498C>A (p.Ala166=) n.928C>A c.476C>A (p.Pro159His) c.554C>A (p.Pro185His) c.665C>A (p.Pro222His) c.579C>A (p.Ala193=) | |
19 | g.1106455C>G | CA402940169 | GPX4 | c.668C>G (p.Pro223Arg) c.537C>G (p.Ala179=) c.551C>G (p.Pro184Arg) c.173C>G (p.Pro58Arg) c.557C>G (p.Pro186Arg) c.532C>G (p.Pro178Ala) c.290C>G (p.Pro97Arg) c.437C>G (p.Pro146Arg) c.498C>G (p.Ala166=) n.928C>G c.476C>G (p.Pro159Arg) c.554C>G (p.Pro185Arg) c.665C>G (p.Pro222Arg) c.579C>G (p.Ala193=) | |
19 | g.1106455C>T | CA402940165 | GPX4 | c.668C>T (p.Pro223Leu) c.537C>T (p.Ala179=) c.551C>T (p.Pro184Leu) c.173C>T (p.Pro58Leu) c.557C>T (p.Pro186Leu) c.532C>T (p.Pro178Ser) c.290C>T (p.Pro97Leu) c.437C>T (p.Pro146Leu) c.498C>T (p.Ala166=) n.928C>T c.476C>T (p.Pro159Leu) c.554C>T (p.Pro185Leu) c.665C>T (p.Pro222Leu) c.579C>T (p.Ala193=) | gnomAD v4 |
19 | g.1106456C>A | CA402940173 | GPX4 | c.669C>A (p.Pro223=) c.538C>A (p.Pro180Thr) c.552C>A (p.Pro184=) c.174C>A (p.Pro58=) c.558C>A (p.Pro186=) c.533C>A (p.Pro178His) c.291C>A (p.Pro97=) c.438C>A (p.Pro146=) c.499C>A (p.Pro167Thr) n.929C>A c.477C>A (p.Pro159=) c.555C>A (p.Pro185=) c.666C>A (p.Pro222=) c.580C>A (p.Pro194Thr) | |
19 | g.1106456C= | CA2317520675 | GPX4 | c.669C= (p.Pro223=) c.538C= (p.Pro180=) c.552C= (p.Pro184=) c.174C= (p.Pro58=) c.558C= (p.Pro186=) c.533C= (p.Pro178=) c.291C= (p.Pro97=) c.438C= (p.Pro146=) c.499C= (p.Pro167=) n.929C= c.477C= (p.Pro159=) c.555C= (p.Pro185=) c.666C= (p.Pro222=) c.580C= (p.Pro194=) | |
19 | g.1106456C>G | CA402940175 | GPX4 | c.669C>G (p.Pro223=) c.538C>G (p.Pro180Ala) c.552C>G (p.Pro184=) c.174C>G (p.Pro58=) c.558C>G (p.Pro186=) c.533C>G (p.Pro178Arg) c.291C>G (p.Pro97=) c.438C>G (p.Pro146=) c.499C>G (p.Pro167Ala) n.929C>G c.477C>G (p.Pro159=) c.555C>G (p.Pro185=) c.666C>G (p.Pro222=) c.580C>G (p.Pro194Ala) | gnomAD v4 |
19 | g.1106456C>T | CA402940176 | GPX4 | c.669C>T (p.Pro223=) c.538C>T (p.Pro180Ser) c.552C>T (p.Pro184=) c.174C>T (p.Pro58=) c.558C>T (p.Pro186=) c.533C>T (p.Pro178Leu) c.291C>T (p.Pro97=) c.438C>T (p.Pro146=) c.499C>T (p.Pro167Ser) n.929C>T c.477C>T (p.Pro159=) c.555C>T (p.Pro185=) c.666C>T (p.Pro222=) c.580C>T (p.Pro194Ser) | dbSNP gnomAD v4 |