Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.6474581C>A | CA415834184 | PLEKHG5 | c.309G>T (p.Val103=) c.483G>T (p.Val161=) c.420G>T (p.Val140=) n.785G>T c.516G>T (p.Val172=) c.606G>T (p.Val202=) c.*521G>T (n.*521G>T) c.*137G>T (n.*137G>T) c.271G>T (n.271G>T) c.540G>T (p.Val180=) c.477G>T (p.Val159=) c.546G>T (p.Val182=) | |
1 | g.6474581C>G | CA415834185 | PLEKHG5 | c.309G>C (p.Val103=) c.483G>C (p.Val161=) c.420G>C (p.Val140=) n.785G>C c.516G>C (p.Val172=) c.606G>C (p.Val202=) c.*521G>C (n.*521G>C) c.*137G>C (n.*137G>C) c.271G>C (n.271G>C) c.540G>C (p.Val180=) c.477G>C (p.Val159=) c.546G>C (p.Val182=) | |
1 | g.6474581C>T | CA415834186 | PLEKHG5 | c.309G>A (p.Val103=) c.483G>A (p.Val161=) c.420G>A (p.Val140=) n.785G>A c.516G>A (p.Val172=) c.606G>A (p.Val202=) c.*521G>A (n.*521G>A) c.*137G>A (n.*137G>A) c.271G>A (n.271G>A) c.540G>A (p.Val180=) c.477G>A (p.Val159=) c.546G>A (p.Val182=) | |
1 | g.6474582A>C | CA338139641 | PLEKHG5 | c.308T>G (p.Val103Gly) c.482T>G (p.Val161Gly) c.419T>G (p.Val140Gly) n.784T>G c.515T>G (p.Val172Gly) c.605T>G (p.Val202Gly) c.*520T>G (n.*520T>G) c.*136T>G (n.*136T>G) c.270T>G (n.270T>G) c.539T>G (p.Val180Gly) c.476T>G (p.Val159Gly) c.545T>G (p.Val182Gly) | |
1 | g.6474582A>G | CA338139642 | PLEKHG5 | c.308T>C (p.Val103Ala) c.482T>C (p.Val161Ala) c.419T>C (p.Val140Ala) n.784T>C c.515T>C (p.Val172Ala) c.605T>C (p.Val202Ala) c.*520T>C (n.*520T>C) c.*136T>C (n.*136T>C) c.270T>C (n.270T>C) c.539T>C (p.Val180Ala) c.476T>C (p.Val159Ala) c.545T>C (p.Val182Ala) | |
1 | g.6474582A>T | CA338139638 | PLEKHG5 | c.308T>A (p.Val103Glu) c.482T>A (p.Val161Glu) c.419T>A (p.Val140Glu) n.784T>A c.515T>A (p.Val172Glu) c.605T>A (p.Val202Glu) c.*520T>A (n.*520T>A) c.*136T>A (n.*136T>A) c.270T>A (n.270T>A) c.539T>A (p.Val180Glu) c.476T>A (p.Val159Glu) c.545T>A (p.Val182Glu) | |
1 | g.6474583C>A | CA338139645 | PLEKHG5 | c.307G>T (p.Val103Leu) c.481G>T (p.Val161Leu) c.418G>T (p.Val140Leu) n.783G>T c.514G>T (p.Val172Leu) c.604G>T (p.Val202Leu) c.*519G>T (n.*519G>T) c.*135G>T (n.*135G>T) c.269G>T (n.269G>T) c.538G>T (p.Val180Leu) c.475G>T (p.Val159Leu) c.544G>T (p.Val182Leu) | ClinVar dbSNP gnomAD v4 |
1 | g.6474583C= | CA1141779039 | PLEKHG5 | c.307G= (p.Val103=) c.481G= (p.Val161=) c.418G= (p.Val140=) n.783G= c.514G= (p.Val172=) c.604G= (p.Val202=) c.*519G= (n.*519G=) c.*135G= (n.*135G=) c.269G= (n.269G=) c.538G= (p.Val180=) c.475G= (p.Val159=) c.544G= (p.Val182=) | |
1 | g.6474583C>G | CA338139648 | PLEKHG5 | c.307G>C (p.Val103Leu) c.481G>C (p.Val161Leu) c.418G>C (p.Val140Leu) n.783G>C c.514G>C (p.Val172Leu) c.604G>C (p.Val202Leu) c.*519G>C (n.*519G>C) c.*135G>C (n.*135G>C) c.269G>C (n.269G>C) c.538G>C (p.Val180Leu) c.475G>C (p.Val159Leu) c.544G>C (p.Val182Leu) | |
1 | g.6474583C>T | CA561882 | PLEKHG5 | c.307G>A (p.Val103Met) c.481G>A (p.Val161Met) c.418G>A (p.Val140Met) n.783G>A c.514G>A (p.Val172Met) c.604G>A (p.Val202Met) c.*519G>A (n.*519G>A) c.*135G>A (n.*135G>A) c.269G>A (n.269G>A) c.538G>A (p.Val180Met) c.475G>A (p.Val159Met) c.544G>A (p.Val182Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474584dup | CA2838209993 | PLEKHG5 | c.307dup (p.Val103GlyfsTer7) c.481dup (p.Val161GlyfsTer7) c.418dup (p.Val140GlyfsTer7) n.783dup c.514dup (p.Val172GlyfsTer7) c.604dup (p.Val202GlyfsTer7) c.*519dup (n.*519dup) c.307dup (p.Val103GlyfsTer?) c.*135dup (n.*135dup) c.269dup (n.269dup) c.538dup (p.Val180GlyfsTer7) c.475dup (p.Val159GlyfsTer7) c.544dup (p.Val182GlyfsTer7) | |
1 | g.6474584C>A | CA338139652 | PLEKHG5 | c.306G>T (p.Glu102Asp) c.480G>T (p.Glu160Asp) c.417G>T (p.Glu139Asp) n.782G>T c.513G>T (p.Glu171Asp) c.603G>T (p.Glu201Asp) c.*518G>T (n.*518G>T) c.*134G>T (n.*134G>T) c.268G>T (n.268G>T) c.537G>T (p.Glu179Asp) c.474G>T (p.Glu158Asp) c.543G>T (p.Glu181Asp) | |
1 | g.6474584C>G | CA338139654 | PLEKHG5 | c.306G>C (p.Glu102Asp) c.480G>C (p.Glu160Asp) c.417G>C (p.Glu139Asp) n.782G>C c.513G>C (p.Glu171Asp) c.603G>C (p.Glu201Asp) c.*518G>C (n.*518G>C) c.*134G>C (n.*134G>C) c.268G>C (n.268G>C) c.537G>C (p.Glu179Asp) c.474G>C (p.Glu158Asp) c.543G>C (p.Glu181Asp) | |
1 | g.6474584C>T | CA415834187 | PLEKHG5 | c.306G>A (p.Glu102=) c.480G>A (p.Glu160=) c.417G>A (p.Glu139=) n.782G>A c.513G>A (p.Glu171=) c.603G>A (p.Glu201=) c.*518G>A (n.*518G>A) c.*134G>A (n.*134G>A) c.268G>A (n.268G>A) c.537G>A (p.Glu179=) c.474G>A (p.Glu158=) c.543G>A (p.Glu181=) | gnomAD v4 |
1 | g.6474585T>A | CA338139661 | PLEKHG5 | c.305A>T (p.Glu102Val) c.479A>T (p.Glu160Val) c.416A>T (p.Glu139Val) n.781A>T c.512A>T (p.Glu171Val) c.602A>T (p.Glu201Val) c.*517A>T (n.*517A>T) c.*133A>T (n.*133A>T) c.267A>T (n.267A>T) c.536A>T (p.Glu179Val) c.473A>T (p.Glu158Val) c.542A>T (p.Glu181Val) | |
1 | g.6474585T>C | CA338139657 | PLEKHG5 | c.305A>G (p.Glu102Gly) c.479A>G (p.Glu160Gly) c.416A>G (p.Glu139Gly) n.781A>G c.512A>G (p.Glu171Gly) c.602A>G (p.Glu201Gly) c.*517A>G (n.*517A>G) c.*133A>G (n.*133A>G) c.267A>G (n.267A>G) c.536A>G (p.Glu179Gly) c.473A>G (p.Glu158Gly) c.542A>G (p.Glu181Gly) | |
1 | g.6474585T>G | CA338139659 | PLEKHG5 | c.305A>C (p.Glu102Ala) c.479A>C (p.Glu160Ala) c.416A>C (p.Glu139Ala) n.781A>C c.512A>C (p.Glu171Ala) c.602A>C (p.Glu201Ala) c.*517A>C (n.*517A>C) c.*133A>C (n.*133A>C) c.267A>C (n.267A>C) c.536A>C (p.Glu179Ala) c.473A>C (p.Glu158Ala) c.542A>C (p.Glu181Ala) | |
1 | g.6474586C>A | CA338139665 | PLEKHG5 | c.304G>T (p.Glu102Ter) c.478G>T (p.Glu160Ter) c.415G>T (p.Glu139Ter) n.780G>T c.511G>T (p.Glu171Ter) c.601G>T (p.Glu201Ter) c.*516G>T (n.*516G>T) c.*132G>T (n.*132G>T) c.266G>T (n.266G>T) c.535G>T (p.Glu179Ter) c.472G>T (p.Glu158Ter) c.541G>T (p.Glu181Ter) | COSMIC COSMIC COSMIC |
1 | g.6474586C>G | CA338139667 | PLEKHG5 | c.304G>C (p.Glu102Gln) c.478G>C (p.Glu160Gln) c.415G>C (p.Glu139Gln) n.780G>C c.511G>C (p.Glu171Gln) c.601G>C (p.Glu201Gln) c.*516G>C (n.*516G>C) c.*132G>C (n.*132G>C) c.266G>C (n.266G>C) c.535G>C (p.Glu179Gln) c.472G>C (p.Glu158Gln) c.541G>C (p.Glu181Gln) | |
1 | g.6474586C>T | CA338139670 | PLEKHG5 | c.304G>A (p.Glu102Lys) c.478G>A (p.Glu160Lys) c.415G>A (p.Glu139Lys) n.780G>A c.511G>A (p.Glu171Lys) c.601G>A (p.Glu201Lys) c.*516G>A (n.*516G>A) c.*132G>A (n.*132G>A) c.266G>A (n.266G>A) c.535G>A (p.Glu179Lys) c.472G>A (p.Glu158Lys) c.541G>A (p.Glu181Lys) | |
1 | g.6474588dup | CA2838199872 | PLEKHG5 | c.304dup c.478dup c.415dup n.780dup c.511dup c.601dup c.*516dup c.*132dup c.266dup c.535dup c.472dup c.541dup | |
1 | g.6474587C>A | CA17243815 | PLEKHG5 | c.303G>T (p.Gly101=) c.477G>T (p.Gly159=) c.414G>T (p.Gly138=) n.779G>T c.510G>T (p.Gly170=) c.600G>T (p.Gly200=) c.*515G>T (n.*515G>T) c.*131G>T (n.*131G>T) c.265G>T (n.265G>T) c.534G>T (p.Gly178=) c.471G>T (p.Gly157=) c.540G>T (p.Gly180=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6474587C= | CA1151507065 | PLEKHG5 | c.303G= (p.Gly101=) c.477G= (p.Gly159=) c.414G= (p.Gly138=) n.779G= c.510G= (p.Gly170=) c.600G= (p.Gly200=) c.*515G= (n.*515G=) c.*131G= (n.*131G=) c.265G= (n.265G=) c.534G= (p.Gly178=) c.471G= (p.Gly157=) c.540G= (p.Gly180=) | |
1 | g.6474587C>G | CA415834188 | PLEKHG5 | c.303G>C (p.Gly101=) c.477G>C (p.Gly159=) c.414G>C (p.Gly138=) n.779G>C c.510G>C (p.Gly170=) c.600G>C (p.Gly200=) c.*515G>C (n.*515G>C) c.*131G>C (n.*131G>C) c.265G>C (n.265G>C) c.534G>C (p.Gly178=) c.471G>C (p.Gly157=) c.540G>C (p.Gly180=) | dbSNP |
1 | g.6474587C>T | CA415834189 | PLEKHG5 | c.303G>A (p.Gly101=) c.477G>A (p.Gly159=) c.414G>A (p.Gly138=) n.779G>A c.510G>A (p.Gly170=) c.600G>A (p.Gly200=) c.*515G>A (n.*515G>A) c.*131G>A (n.*131G>A) c.265G>A (n.265G>A) c.534G>A (p.Gly178=) c.471G>A (p.Gly157=) c.540G>A (p.Gly180=) | |
1 | g.6474588C>A | CA338139673 | PLEKHG5 | c.303-1G>T (n.303-1G>T) c.477-1G>T (n.477-1G>T) c.414-1G>T (n.414-1G>T) n.778G>T c.510-1G>T (n.510-1G>T) c.600-1G>T (n.600-1G>T) c.*515-1G>T (n.*515-1G>T) c.*131-1G>T (n.*131-1G>T) c.265-1G>T (n.265-1G>T) c.534-1G>T (n.534-1G>T) c.471-1G>T (n.471-1G>T) c.540-1G>T (n.540-1G>T) | |
1 | g.6474588C>G | CA338139675 | PLEKHG5 | c.303-1G>C (n.303-1G>C) c.477-1G>C (n.477-1G>C) c.414-1G>C (n.414-1G>C) n.778G>C c.510-1G>C (n.510-1G>C) c.600-1G>C (n.600-1G>C) c.*515-1G>C (n.*515-1G>C) c.*131-1G>C (n.*131-1G>C) c.265-1G>C (n.265-1G>C) c.534-1G>C (n.534-1G>C) c.471-1G>C (n.471-1G>C) c.540-1G>C (n.540-1G>C) | |
1 | g.6474588C>T | CA338139677 | PLEKHG5 | c.303-1G>A (n.303-1G>A) c.477-1G>A (n.477-1G>A) c.414-1G>A (n.414-1G>A) n.778G>A c.510-1G>A (n.510-1G>A) c.600-1G>A (n.600-1G>A) c.*515-1G>A (n.*515-1G>A) c.*131-1G>A (n.*131-1G>A) c.265-1G>A (n.265-1G>A) c.534-1G>A (n.534-1G>A) c.471-1G>A (n.471-1G>A) c.540-1G>A (n.540-1G>A) | |
1 | g.6474589T>A | CA338139691 | PLEKHG5 | c.303-2A>T (n.303-2A>T) c.477-2A>T (n.477-2A>T) c.414-2A>T (n.414-2A>T) n.777A>T c.510-2A>T (n.510-2A>T) c.600-2A>T (n.600-2A>T) c.*515-2A>T (n.*515-2A>T) c.*131-2A>T (n.*131-2A>T) c.265-2A>T (n.265-2A>T) c.534-2A>T (n.534-2A>T) c.471-2A>T (n.471-2A>T) c.540-2A>T (n.540-2A>T) | |
1 | g.6474589T>C | CA338139694 | PLEKHG5 | c.303-2A>G (n.303-2A>G) c.477-2A>G (n.477-2A>G) c.414-2A>G (n.414-2A>G) n.777A>G c.510-2A>G (n.510-2A>G) c.600-2A>G (n.600-2A>G) c.*515-2A>G (n.*515-2A>G) c.*131-2A>G (n.*131-2A>G) c.265-2A>G (n.265-2A>G) c.534-2A>G (n.534-2A>G) c.471-2A>G (n.471-2A>G) c.540-2A>G (n.540-2A>G) | gnomAD v4 |
1 | g.6474589T>G | CA338139682 | PLEKHG5 | c.303-2A>C (n.303-2A>C) c.477-2A>C (n.477-2A>C) c.414-2A>C (n.414-2A>C) n.777A>C c.510-2A>C (n.510-2A>C) c.600-2A>C (n.600-2A>C) c.*515-2A>C (n.*515-2A>C) c.*131-2A>C (n.*131-2A>C) c.265-2A>C (n.265-2A>C) c.534-2A>C (n.534-2A>C) c.471-2A>C (n.471-2A>C) c.540-2A>C (n.540-2A>C) | |
1 | g.6474590G>A | CA520766010 | PLEKHG5 | c.303-3C>T (n.303-3C>T) c.477-3C>T (n.477-3C>T) c.414-3C>T (n.414-3C>T) n.776C>T c.510-3C>T (n.510-3C>T) c.600-3C>T (n.600-3C>T) c.*515-3C>T (n.*515-3C>T) c.*131-3C>T (n.*131-3C>T) c.265-3C>T (n.265-3C>T) c.534-3C>T (n.534-3C>T) c.471-3C>T (n.471-3C>T) c.540-3C>T (n.540-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6474590G>C | CA561883 | PLEKHG5 | c.303-3C>G (n.303-3C>G) c.477-3C>G (n.477-3C>G) c.414-3C>G (n.414-3C>G) n.776C>G c.510-3C>G (n.510-3C>G) c.600-3C>G (n.600-3C>G) c.*515-3C>G (n.*515-3C>G) c.*131-3C>G (n.*131-3C>G) c.265-3C>G (n.265-3C>G) c.534-3C>G (n.534-3C>G) c.471-3C>G (n.471-3C>G) c.540-3C>G (n.540-3C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474590G= | CA1151507068 | PLEKHG5 | c.303-3C= (n.303-3C=) c.477-3C= (n.477-3C=) c.414-3C= (n.414-3C=) n.776C= c.510-3C= (n.510-3C=) c.600-3C= (n.600-3C=) c.*515-3C= (n.*515-3C=) c.*131-3C= (n.*131-3C=) c.265-3C= (n.265-3C=) c.534-3C= (n.534-3C=) c.471-3C= (n.471-3C=) c.540-3C= (n.540-3C=) | |
1 | g.6474591C= | CA1148299649 | PLEKHG5 | c.303-4G= (n.303-4G=) c.477-4G= (n.477-4G=) c.414-4G= (n.414-4G=) n.775G= c.510-4G= (n.510-4G=) c.600-4G= (n.600-4G=) c.*515-4G= (n.*515-4G=) c.*131-4G= (n.*131-4G=) c.265-4G= (n.265-4G=) c.534-4G= (n.534-4G=) c.471-4G= (n.471-4G=) c.540-4G= (n.540-4G=) | |
1 | g.6474591C>T | CA561884 | PLEKHG5 | c.303-4G>A (n.303-4G>A) c.477-4G>A (n.477-4G>A) c.414-4G>A (n.414-4G>A) n.775G>A c.510-4G>A (n.510-4G>A) c.600-4G>A (n.600-4G>A) c.*515-4G>A (n.*515-4G>A) c.*131-4G>A (n.*131-4G>A) c.265-4G>A (n.265-4G>A) c.534-4G>A (n.534-4G>A) c.471-4G>A (n.471-4G>A) c.540-4G>A (n.540-4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474595del | CA2556342326 | PLEKHG5 | c.303-4del (n.303-4del) c.477-4del (n.477-4del) c.414-4del (n.414-4del) n.775del c.510-4del (n.510-4del) c.600-4del (n.600-4del) c.*515-4del (n.*515-4del) c.*131-4del (n.*131-4del) c.265-4del (n.265-4del) c.534-4del (n.534-4del) c.471-4del (n.471-4del) c.540-4del (n.540-4del) | |
1 | g.6474592C>A | CA2642978925 | PLEKHG5 | c.303-5G>T (n.303-5G>T) c.477-5G>T (n.477-5G>T) c.414-5G>T (n.414-5G>T) n.774G>T c.510-5G>T (n.510-5G>T) c.600-5G>T (n.600-5G>T) c.*515-5G>T (n.*515-5G>T) c.*131-5G>T (n.*131-5G>T) c.265-5G>T (n.265-5G>T) c.534-5G>T (n.534-5G>T) c.471-5G>T (n.471-5G>T) c.540-5G>T (n.540-5G>T) | gnomAD v4 |
1 | g.6474592C>G | CA2539439180 | PLEKHG5 | c.303-5G>C (n.303-5G>C) c.477-5G>C (n.477-5G>C) c.414-5G>C (n.414-5G>C) n.774G>C c.510-5G>C (n.510-5G>C) c.600-5G>C (n.600-5G>C) c.*515-5G>C (n.*515-5G>C) c.*131-5G>C (n.*131-5G>C) c.265-5G>C (n.265-5G>C) c.534-5G>C (n.534-5G>C) c.471-5G>C (n.471-5G>C) c.540-5G>C (n.540-5G>C) | |
1 | g.6474593C= | CA1151507072 | PLEKHG5 | c.303-6G= (n.303-6G=) c.477-6G= (n.477-6G=) c.414-6G= (n.414-6G=) n.773G= c.510-6G= (n.510-6G=) c.600-6G= (n.600-6G=) c.*515-6G= (n.*515-6G=) c.*131-6G= (n.*131-6G=) c.265-6G= (n.265-6G=) c.534-6G= (n.534-6G=) c.471-6G= (n.471-6G=) c.540-6G= (n.540-6G=) | |
1 | g.6474593C>G | CA1151507075 | PLEKHG5 | c.303-6G>C (n.303-6G>C) c.477-6G>C (n.477-6G>C) c.414-6G>C (n.414-6G>C) n.773G>C c.510-6G>C (n.510-6G>C) c.600-6G>C (n.600-6G>C) c.*515-6G>C (n.*515-6G>C) c.*131-6G>C (n.*131-6G>C) c.265-6G>C (n.265-6G>C) c.534-6G>C (n.534-6G>C) c.471-6G>C (n.471-6G>C) c.540-6G>C (n.540-6G>C) | dbSNP gnomAD v4 |
1 | g.6474593C>T | CA2642978931 | PLEKHG5 | c.303-6G>A (n.303-6G>A) c.477-6G>A (n.477-6G>A) c.414-6G>A (n.414-6G>A) n.773G>A c.510-6G>A (n.510-6G>A) c.600-6G>A (n.600-6G>A) c.*515-6G>A (n.*515-6G>A) c.*131-6G>A (n.*131-6G>A) c.265-6G>A (n.265-6G>A) c.534-6G>A (n.534-6G>A) c.471-6G>A (n.471-6G>A) c.540-6G>A (n.540-6G>A) | gnomAD v4 |
1 | g.6474594C= | CA1151507078 | PLEKHG5 | c.303-7G= (n.303-7G=) c.477-7G= (n.477-7G=) c.414-7G= (n.414-7G=) n.772G= c.510-7G= (n.510-7G=) c.600-7G= (n.600-7G=) c.*515-7G= (n.*515-7G=) c.*131-7G= (n.*131-7G=) c.265-7G= (n.265-7G=) c.534-7G= (n.534-7G=) c.471-7G= (n.471-7G=) c.540-7G= (n.540-7G=) | |
1 | g.6474594C>G | CA2573132146 | PLEKHG5 | c.303-7G>C (n.303-7G>C) c.477-7G>C (n.477-7G>C) c.414-7G>C (n.414-7G>C) n.772G>C c.510-7G>C (n.510-7G>C) c.600-7G>C (n.600-7G>C) c.*515-7G>C (n.*515-7G>C) c.*131-7G>C (n.*131-7G>C) c.265-7G>C (n.265-7G>C) c.534-7G>C (n.534-7G>C) c.471-7G>C (n.471-7G>C) c.540-7G>C (n.540-7G>C) | ClinVar dbSNP |
1 | g.6474594C>T | CA520766013 | PLEKHG5 | c.303-7G>A (n.303-7G>A) c.477-7G>A (n.477-7G>A) c.414-7G>A (n.414-7G>A) n.772G>A c.510-7G>A (n.510-7G>A) c.600-7G>A (n.600-7G>A) c.*515-7G>A (n.*515-7G>A) c.*131-7G>A (n.*131-7G>A) c.265-7G>A (n.265-7G>A) c.534-7G>A (n.534-7G>A) c.471-7G>A (n.471-7G>A) c.540-7G>A (n.540-7G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6474597G>T | CA2642978949 | PLEKHG5 | c.303-10C>A (n.303-10C>A) c.477-10C>A (n.477-10C>A) c.414-10C>A (n.414-10C>A) n.769C>A c.510-10C>A (n.510-10C>A) c.600-10C>A (n.600-10C>A) c.*515-10C>A (n.*515-10C>A) c.*131-10C>A (n.*131-10C>A) c.265-10C>A (n.265-10C>A) c.534-10C>A (n.534-10C>A) c.471-10C>A (n.471-10C>A) c.540-10C>A (n.540-10C>A) | gnomAD v4 |
1 | g.6474598G>A | CA2642978956 | PLEKHG5 | c.303-11C>T (n.303-11C>T) c.477-11C>T (n.477-11C>T) c.414-11C>T (n.414-11C>T) n.768C>T c.510-11C>T (n.510-11C>T) c.600-11C>T (n.600-11C>T) c.*515-11C>T (n.*515-11C>T) c.*131-11C>T (n.*131-11C>T) c.265-11C>T (n.265-11C>T) c.534-11C>T (n.534-11C>T) c.471-11C>T (n.471-11C>T) c.540-11C>T (n.540-11C>T) | gnomAD v4 |
1 | g.6474599A= | CA1145848442 | PLEKHG5 | c.303-12T= (n.303-12T=) c.477-12T= (n.477-12T=) c.414-12T= (n.414-12T=) n.767T= c.510-12T= (n.510-12T=) c.600-12T= (n.600-12T=) c.*515-12T= (n.*515-12T=) c.*131-12T= (n.*131-12T=) c.265-12T= (n.265-12T=) c.534-12T= (n.534-12T=) c.471-12T= (n.471-12T=) c.540-12T= (n.540-12T=) | |
1 | g.6474599A>C | CA2642978993 | PLEKHG5 | c.303-12T>G (n.303-12T>G) c.477-12T>G (n.477-12T>G) c.414-12T>G (n.414-12T>G) n.767T>G c.510-12T>G (n.510-12T>G) c.600-12T>G (n.600-12T>G) c.*515-12T>G (n.*515-12T>G) c.*131-12T>G (n.*131-12T>G) c.265-12T>G (n.265-12T>G) c.534-12T>G (n.534-12T>G) c.471-12T>G (n.471-12T>G) c.540-12T>G (n.540-12T>G) | gnomAD v4 |
1 | g.6474599A>G | CA561885 | PLEKHG5 | c.303-12T>C (n.303-12T>C) c.477-12T>C (n.477-12T>C) c.414-12T>C (n.414-12T>C) n.767T>C c.510-12T>C (n.510-12T>C) c.600-12T>C (n.600-12T>C) c.*515-12T>C (n.*515-12T>C) c.*131-12T>C (n.*131-12T>C) c.265-12T>C (n.265-12T>C) c.534-12T>C (n.534-12T>C) c.471-12T>C (n.471-12T>C) c.540-12T>C (n.540-12T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474600C>G | CA2642979000 | PLEKHG5 | c.303-13G>C (n.303-13G>C) c.477-13G>C (n.477-13G>C) c.414-13G>C (n.414-13G>C) n.766G>C c.510-13G>C (n.510-13G>C) c.600-13G>C (n.600-13G>C) c.*515-13G>C (n.*515-13G>C) c.*131-13G>C (n.*131-13G>C) c.265-13G>C (n.265-13G>C) c.534-13G>C (n.534-13G>C) c.471-13G>C (n.471-13G>C) c.540-13G>C (n.540-13G>C) | ClinVar gnomAD v4 |
1 | g.6474600C>T | CA2695502608 | PLEKHG5 | c.303-13G>A (n.303-13G>A) c.477-13G>A (n.477-13G>A) c.414-13G>A (n.414-13G>A) n.766G>A c.510-13G>A (n.510-13G>A) c.600-13G>A (n.600-13G>A) c.*515-13G>A (n.*515-13G>A) c.*131-13G>A (n.*131-13G>A) c.265-13G>A (n.265-13G>A) c.534-13G>A (n.534-13G>A) c.471-13G>A (n.471-13G>A) c.540-13G>A (n.540-13G>A) | dbSNP |
1 | g.6474601A>C | CA2642979003 | PLEKHG5 | c.303-14T>G (n.303-14T>G) c.477-14T>G (n.477-14T>G) c.414-14T>G (n.414-14T>G) n.765T>G c.510-14T>G (n.510-14T>G) c.600-14T>G (n.600-14T>G) c.*515-14T>G (n.*515-14T>G) c.*131-14T>G (n.*131-14T>G) c.265-14T>G (n.265-14T>G) c.534-14T>G (n.534-14T>G) c.471-14T>G (n.471-14T>G) c.540-14T>G (n.540-14T>G) | gnomAD v4 |
1 | g.6474602G>A | CA2592134455 | PLEKHG5 | c.303-15C>T (n.303-15C>T) c.477-15C>T (n.477-15C>T) c.414-15C>T (n.414-15C>T) n.764C>T c.510-15C>T (n.510-15C>T) c.600-15C>T (n.600-15C>T) c.*515-15C>T (n.*515-15C>T) c.*131-15C>T (n.*131-15C>T) c.265-15C>T (n.265-15C>T) c.534-15C>T (n.534-15C>T) c.471-15C>T (n.471-15C>T) c.540-15C>T (n.540-15C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474602G>C | CA2642979005 | PLEKHG5 | c.303-15C>G (n.303-15C>G) c.477-15C>G (n.477-15C>G) c.414-15C>G (n.414-15C>G) n.764C>G c.510-15C>G (n.510-15C>G) c.600-15C>G (n.600-15C>G) c.*515-15C>G (n.*515-15C>G) c.*131-15C>G (n.*131-15C>G) c.265-15C>G (n.265-15C>G) c.534-15C>G (n.534-15C>G) c.471-15C>G (n.471-15C>G) c.540-15C>G (n.540-15C>G) | gnomAD v4 |
1 | g.6474603G>A | CA2573132147 | PLEKHG5 | c.303-16C>T (n.303-16C>T) c.477-16C>T (n.477-16C>T) c.414-16C>T (n.414-16C>T) n.763C>T c.510-16C>T (n.510-16C>T) c.600-16C>T (n.600-16C>T) c.*515-16C>T (n.*515-16C>T) c.*131-16C>T (n.*131-16C>T) c.265-16C>T (n.265-16C>T) c.534-16C>T (n.534-16C>T) c.471-16C>T (n.471-16C>T) c.540-16C>T (n.540-16C>T) | ClinVar dbSNP gnomAD v4 |
1 | g.6474604A= | CA1151507084 | PLEKHG5 | c.303-17T= (n.303-17T=) c.477-17T= (n.477-17T=) c.414-17T= (n.414-17T=) n.762T= c.510-17T= (n.510-17T=) c.600-17T= (n.600-17T=) c.*515-17T= (n.*515-17T=) c.*131-17T= (n.*131-17T=) c.265-17T= (n.265-17T=) c.534-17T= (n.534-17T=) c.471-17T= (n.471-17T=) c.540-17T= (n.540-17T=) | |
1 | g.6474604A>C | CA2642979016 | PLEKHG5 | c.303-17T>G (n.303-17T>G) c.477-17T>G (n.477-17T>G) c.414-17T>G (n.414-17T>G) n.762T>G c.510-17T>G (n.510-17T>G) c.600-17T>G (n.600-17T>G) c.*515-17T>G (n.*515-17T>G) c.*131-17T>G (n.*131-17T>G) c.265-17T>G (n.265-17T>G) c.534-17T>G (n.534-17T>G) c.471-17T>G (n.471-17T>G) c.540-17T>G (n.540-17T>G) | gnomAD v4 |
1 | g.6474604A>T | CA17243857 | PLEKHG5 | c.303-17T>A (n.303-17T>A) c.477-17T>A (n.477-17T>A) c.414-17T>A (n.414-17T>A) n.762T>A c.510-17T>A (n.510-17T>A) c.600-17T>A (n.600-17T>A) c.*515-17T>A (n.*515-17T>A) c.*131-17T>A (n.*131-17T>A) c.265-17T>A (n.265-17T>A) c.534-17T>A (n.534-17T>A) c.471-17T>A (n.471-17T>A) c.540-17T>A (n.540-17T>A) | dbSNP |
1 | g.6474605G>A | CA737854906 | PLEKHG5 | c.303-18C>T (n.303-18C>T) c.477-18C>T (n.477-18C>T) c.414-18C>T (n.414-18C>T) n.761C>T c.510-18C>T (n.510-18C>T) c.600-18C>T (n.600-18C>T) c.*515-18C>T (n.*515-18C>T) c.*131-18C>T (n.*131-18C>T) c.265-18C>T (n.265-18C>T) c.534-18C>T (n.534-18C>T) c.471-18C>T (n.471-18C>T) c.540-18C>T (n.540-18C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474605G= | CA1151507088 | PLEKHG5 | c.303-18C= (n.303-18C=) c.477-18C= (n.477-18C=) c.414-18C= (n.414-18C=) n.761C= c.510-18C= (n.510-18C=) c.600-18C= (n.600-18C=) c.*515-18C= (n.*515-18C=) c.*131-18C= (n.*131-18C=) c.265-18C= (n.265-18C=) c.534-18C= (n.534-18C=) c.471-18C= (n.471-18C=) c.540-18C= (n.540-18C=) | |
1 | g.6474606G>A | CA2574193639 | PLEKHG5 | c.303-19C>T (n.303-19C>T) c.477-19C>T (n.477-19C>T) c.414-19C>T (n.414-19C>T) n.760C>T c.510-19C>T (n.510-19C>T) c.600-19C>T (n.600-19C>T) c.*515-19C>T (n.*515-19C>T) c.*131-19C>T (n.*131-19C>T) c.265-19C>T (n.265-19C>T) c.534-19C>T (n.534-19C>T) c.471-19C>T (n.471-19C>T) c.540-19C>T (n.540-19C>T) | ClinVar gnomAD v4 |
1 | g.6474606G>C | CA2740090549 | PLEKHG5 | c.303-19C>G (n.303-19C>G) c.477-19C>G (n.477-19C>G) c.414-19C>G (n.414-19C>G) n.760C>G c.510-19C>G (n.510-19C>G) c.600-19C>G (n.600-19C>G) c.*515-19C>G (n.*515-19C>G) c.*131-19C>G (n.*131-19C>G) c.265-19C>G (n.265-19C>G) c.534-19C>G (n.534-19C>G) c.471-19C>G (n.471-19C>G) c.540-19C>G (n.540-19C>G) | ClinVar |
1 | g.6474606G>T | CA2840114471 | PLEKHG5 | c.303-19C>A (n.303-19C>A) c.477-19C>A (n.477-19C>A) c.414-19C>A (n.414-19C>A) n.760C>A c.510-19C>A (n.510-19C>A) c.600-19C>A (n.600-19C>A) c.*515-19C>A (n.*515-19C>A) c.*131-19C>A (n.*131-19C>A) c.265-19C>A (n.265-19C>A) c.534-19C>A (n.534-19C>A) c.471-19C>A (n.471-19C>A) c.540-19C>A (n.540-19C>A) | |
1 | g.6474607C= | CA1151507092 | PLEKHG5 | c.303-20G= (n.303-20G=) c.477-20G= (n.477-20G=) c.414-20G= (n.414-20G=) n.759G= c.510-20G= (n.510-20G=) c.600-20G= (n.600-20G=) c.*515-20G= (n.*515-20G=) c.*131-20G= (n.*131-20G=) c.265-20G= (n.265-20G=) c.534-20G= (n.534-20G=) c.471-20G= (n.471-20G=) c.540-20G= (n.540-20G=) | |
1 | g.6474607C>G | CA2642979024 | PLEKHG5 | c.303-20G>C (n.303-20G>C) c.477-20G>C (n.477-20G>C) c.414-20G>C (n.414-20G>C) n.759G>C c.510-20G>C (n.510-20G>C) c.600-20G>C (n.600-20G>C) c.*515-20G>C (n.*515-20G>C) c.*131-20G>C (n.*131-20G>C) c.265-20G>C (n.265-20G>C) c.534-20G>C (n.534-20G>C) c.471-20G>C (n.471-20G>C) c.540-20G>C (n.540-20G>C) | gnomAD v4 |
1 | g.6474607C>T | CA561886 | PLEKHG5 | c.303-20G>A (n.303-20G>A) c.477-20G>A (n.477-20G>A) c.414-20G>A (n.414-20G>A) n.759G>A c.510-20G>A (n.510-20G>A) c.600-20G>A (n.600-20G>A) c.*515-20G>A (n.*515-20G>A) c.*131-20G>A (n.*131-20G>A) c.265-20G>A (n.265-20G>A) c.534-20G>A (n.534-20G>A) c.471-20G>A (n.471-20G>A) c.540-20G>A (n.540-20G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474608A= | CA1149038646 | PLEKHG5 | c.303-21T= (n.303-21T=) c.477-21T= (n.477-21T=) c.414-21T= (n.414-21T=) n.758T= c.510-21T= (n.510-21T=) c.600-21T= (n.600-21T=) c.*515-21T= (n.*515-21T=) c.*131-21T= (n.*131-21T=) c.265-21T= (n.265-21T=) c.534-21T= (n.534-21T=) c.471-21T= (n.471-21T=) c.540-21T= (n.540-21T=) | |
1 | g.6474608A>C | CA561887 | PLEKHG5 | c.303-21T>G (n.303-21T>G) c.477-21T>G (n.477-21T>G) c.414-21T>G (n.414-21T>G) n.758T>G c.510-21T>G (n.510-21T>G) c.600-21T>G (n.600-21T>G) c.*515-21T>G (n.*515-21T>G) c.*131-21T>G (n.*131-21T>G) c.265-21T>G (n.265-21T>G) c.534-21T>G (n.534-21T>G) c.471-21T>G (n.471-21T>G) c.540-21T>G (n.540-21T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474608A>G | CA520766014 | PLEKHG5 | c.303-21T>C (n.303-21T>C) c.477-21T>C (n.477-21T>C) c.414-21T>C (n.414-21T>C) n.758T>C c.510-21T>C (n.510-21T>C) c.600-21T>C (n.600-21T>C) c.*515-21T>C (n.*515-21T>C) c.*131-21T>C (n.*131-21T>C) c.265-21T>C (n.265-21T>C) c.534-21T>C (n.534-21T>C) c.471-21T>C (n.471-21T>C) c.540-21T>C (n.540-21T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474609T>A | CA520766015 | PLEKHG5 | c.303-22A>T (n.303-22A>T) c.477-22A>T (n.477-22A>T) c.414-22A>T (n.414-22A>T) n.757A>T c.510-22A>T (n.510-22A>T) c.600-22A>T (n.600-22A>T) c.*515-22A>T (n.*515-22A>T) c.*131-22A>T (n.*131-22A>T) c.265-22A>T (n.265-22A>T) c.534-22A>T (n.534-22A>T) c.471-22A>T (n.471-22A>T) c.540-22A>T (n.540-22A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6474609T>C | CA561888 | PLEKHG5 | c.303-22A>G (n.303-22A>G) c.477-22A>G (n.477-22A>G) c.414-22A>G (n.414-22A>G) n.757A>G c.510-22A>G (n.510-22A>G) c.600-22A>G (n.600-22A>G) c.*515-22A>G (n.*515-22A>G) c.*131-22A>G (n.*131-22A>G) c.265-22A>G (n.265-22A>G) c.534-22A>G (n.534-22A>G) c.471-22A>G (n.471-22A>G) c.540-22A>G (n.540-22A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474609T= | CA1151507116 | PLEKHG5 | c.303-22A= (n.303-22A=) c.477-22A= (n.477-22A=) c.414-22A= (n.414-22A=) n.757A= c.510-22A= (n.510-22A=) c.600-22A= (n.600-22A=) c.*515-22A= (n.*515-22A=) c.*131-22A= (n.*131-22A=) c.265-22A= (n.265-22A=) c.534-22A= (n.534-22A=) c.471-22A= (n.471-22A=) c.540-22A= (n.540-22A=) | |
1 | g.6474614_6474615del | CA2642979069 | PLEKHG5 | c.303-23_303-22del (n.303-23_303-22del) c.477-23_477-22del (n.477-23_477-22del) c.414-23_414-22del (n.414-23_414-22del) n.756_757del c.510-23_510-22del (n.510-23_510-22del) c.600-23_600-22del (n.600-23_600-22del) c.*515-23_*515-22del (n.*515-23_*515-22del) c.*131-23_*131-22del (n.*131-23_*131-22del) c.265-23_265-22del (n.265-23_265-22del) c.534-23_534-22del (n.534-23_534-22del) c.471-23_471-22del (n.471-23_471-22del) c.540-23_540-22del (n.540-23_540-22del) | gnomAD v4 |
1 | g.6474611T>C | CA520766017 | PLEKHG5 | c.303-24A>G (n.303-24A>G) c.477-24A>G (n.477-24A>G) c.414-24A>G (n.414-24A>G) n.755A>G c.510-24A>G (n.510-24A>G) c.600-24A>G (n.600-24A>G) c.*515-24A>G (n.*515-24A>G) c.*131-24A>G (n.*131-24A>G) c.265-24A>G (n.265-24A>G) c.534-24A>G (n.534-24A>G) c.471-24A>G (n.471-24A>G) c.540-24A>G (n.540-24A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6474611T= | CA1151507122 | PLEKHG5 | c.303-24A= (n.303-24A=) c.477-24A= (n.477-24A=) c.414-24A= (n.414-24A=) n.755A= c.510-24A= (n.510-24A=) c.600-24A= (n.600-24A=) c.*515-24A= (n.*515-24A=) c.*131-24A= (n.*131-24A=) c.265-24A= (n.265-24A=) c.534-24A= (n.534-24A=) c.471-24A= (n.471-24A=) c.540-24A= (n.540-24A=) | |
1 | g.6474612G>T | CA2574193642 | PLEKHG5 | c.303-25C>A (n.303-25C>A) c.477-25C>A (n.477-25C>A) c.414-25C>A (n.414-25C>A) n.754C>A c.510-25C>A (n.510-25C>A) c.600-25C>A (n.600-25C>A) c.*515-25C>A (n.*515-25C>A) c.*131-25C>A (n.*131-25C>A) c.265-25C>A (n.265-25C>A) c.534-25C>A (n.534-25C>A) c.471-25C>A (n.471-25C>A) c.540-25C>A (n.540-25C>A) | gnomAD v4 |
1 | g.6474614_6474633del | CA2642979081 | PLEKHG5 | c.303-44_303-25del (n.303-44_303-25del) c.477-44_477-25del (n.477-44_477-25del) c.414-44_414-25del (n.414-44_414-25del) n.735_754del c.510-44_510-25del (n.510-44_510-25del) c.600-44_600-25del (n.600-44_600-25del) c.*515-44_*515-25del (n.*515-44_*515-25del) c.*131-44_*131-25del (n.*131-44_*131-25del) c.265-44_265-25del (n.265-44_265-25del) c.534-44_534-25del (n.534-44_534-25del) c.471-44_471-25del (n.471-44_471-25del) c.540-44_540-25del (n.540-44_540-25del) | gnomAD v4 |
1 | g.6474613T>G | CA561889 | PLEKHG5 | c.303-26A>C (n.303-26A>C) c.477-26A>C (n.477-26A>C) c.414-26A>C (n.414-26A>C) n.753A>C c.510-26A>C (n.510-26A>C) c.600-26A>C (n.600-26A>C) c.*515-26A>C (n.*515-26A>C) c.*131-26A>C (n.*131-26A>C) c.265-26A>C (n.265-26A>C) c.534-26A>C (n.534-26A>C) c.471-26A>C (n.471-26A>C) c.540-26A>C (n.540-26A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474613T= | CA1151507126 | PLEKHG5 | c.303-26A= (n.303-26A=) c.477-26A= (n.477-26A=) c.414-26A= (n.414-26A=) n.753A= c.510-26A= (n.510-26A=) c.600-26A= (n.600-26A=) c.*515-26A= (n.*515-26A=) c.*131-26A= (n.*131-26A=) c.265-26A= (n.265-26A=) c.534-26A= (n.534-26A=) c.471-26A= (n.471-26A=) c.540-26A= (n.540-26A=) | |
1 | g.6474614G>A | CA561890 | PLEKHG5 | c.303-27C>T (n.303-27C>T) c.477-27C>T (n.477-27C>T) c.414-27C>T (n.414-27C>T) n.752C>T c.510-27C>T (n.510-27C>T) c.600-27C>T (n.600-27C>T) c.*515-27C>T (n.*515-27C>T) c.*131-27C>T (n.*131-27C>T) c.265-27C>T (n.265-27C>T) c.534-27C>T (n.534-27C>T) c.471-27C>T (n.471-27C>T) c.540-27C>T (n.540-27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474614G= | CA1143954663 | PLEKHG5 | c.303-27C= (n.303-27C=) c.477-27C= (n.477-27C=) c.414-27C= (n.414-27C=) n.752C= c.510-27C= (n.510-27C=) c.600-27C= (n.600-27C=) c.*515-27C= (n.*515-27C=) c.*131-27C= (n.*131-27C=) c.265-27C= (n.265-27C=) c.534-27C= (n.534-27C=) c.471-27C= (n.471-27C=) c.540-27C= (n.540-27C=) | |
1 | g.6474616del | CA998179032 | PLEKHG5 | c.303-28del (n.303-28del) c.477-28del (n.477-28del) c.414-28del (n.414-28del) n.751del c.510-28del (n.510-28del) c.600-28del (n.600-28del) c.*515-28del (n.*515-28del) c.*131-28del (n.*131-28del) c.265-28del (n.265-28del) c.534-28del (n.534-28del) c.471-28del (n.471-28del) c.540-28del (n.540-28del) | gnomAD v3 gnomAD v4 |
1 | g.6474617A>G | CA2642979091 | PLEKHG5 | c.303-30T>C (n.303-30T>C) c.477-30T>C (n.477-30T>C) c.414-30T>C (n.414-30T>C) n.749T>C c.510-30T>C (n.510-30T>C) c.600-30T>C (n.600-30T>C) c.*515-30T>C (n.*515-30T>C) c.*131-30T>C (n.*131-30T>C) c.265-30T>C (n.265-30T>C) c.534-30T>C (n.534-30T>C) c.471-30T>C (n.471-30T>C) c.540-30T>C (n.540-30T>C) | gnomAD v4 |
1 | g.6474619A= | CA1151507139 | PLEKHG5 | c.303-32T= (n.303-32T=) c.477-32T= (n.477-32T=) c.414-32T= (n.414-32T=) n.747T= c.510-32T= (n.510-32T=) c.600-32T= (n.600-32T=) c.*515-32T= (n.*515-32T=) c.*131-32T= (n.*131-32T=) c.265-32T= (n.265-32T=) c.534-32T= (n.534-32T=) c.471-32T= (n.471-32T=) c.540-32T= (n.540-32T=) | |
1 | g.6474619A>C | CA561891 | PLEKHG5 | c.303-32T>G (n.303-32T>G) c.477-32T>G (n.477-32T>G) c.414-32T>G (n.414-32T>G) n.747T>G c.510-32T>G (n.510-32T>G) c.600-32T>G (n.600-32T>G) c.*515-32T>G (n.*515-32T>G) c.*131-32T>G (n.*131-32T>G) c.265-32T>G (n.265-32T>G) c.534-32T>G (n.534-32T>G) c.471-32T>G (n.471-32T>G) c.540-32T>G (n.540-32T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474620A>T | CA2574193653 | PLEKHG5 | c.303-33T>A (n.303-33T>A) c.477-33T>A (n.477-33T>A) c.414-33T>A (n.414-33T>A) n.746T>A c.510-33T>A (n.510-33T>A) c.600-33T>A (n.600-33T>A) c.*515-33T>A (n.*515-33T>A) c.*131-33T>A (n.*131-33T>A) c.265-33T>A (n.265-33T>A) c.534-33T>A (n.534-33T>A) c.471-33T>A (n.471-33T>A) c.540-33T>A (n.540-33T>A) | gnomAD v4 |
1 | g.6474620_6474628delinsACCAGGCGG | CA1151507143 | PLEKHG5 | c.303-41_303-33delinsCCGCCTGGT (n.303-41_303-33delinsCCGCCTGGT) c.477-41_477-33delinsCCGCCTGGT (n.477-41_477-33delinsCCGCCTGGT) c.414-41_414-33delinsCCGCCTGGT (n.414-41_414-33delinsCCGCCTGGT) n.738_746delinsCCGCCTGGT c.510-41_510-33delinsCCGCCTGGT (n.510-41_510-33delinsCCGCCTGGT) c.600-41_600-33delinsCCGCCTGGT (n.600-41_600-33delinsCCGCCTGGT) c.*515-41_*515-33delinsCCGCCTGGT (n.*515-41_*515-33delinsCCGCCTGGT) c.*131-41_*131-33delinsCCGCCTGGT (n.*131-41_*131-33delinsCCGCCTGGT) c.265-41_265-33delinsCCGCCTGGT (n.265-41_265-33delinsCCGCCTGGT) c.534-41_534-33delinsCCGCCTGGT (n.534-41_534-33delinsCCGCCTGGT) c.471-41_471-33delinsCCGCCTGGT (n.471-41_471-33delinsCCGCCTGGT) c.540-41_540-33delinsCCGCCTGGT (n.540-41_540-33delinsCCGCCTGGT) | |
1 | g.6474621C>A | CA520766020 | PLEKHG5 | c.303-34G>T (n.303-34G>T) c.477-34G>T (n.477-34G>T) c.414-34G>T (n.414-34G>T) n.745G>T c.510-34G>T (n.510-34G>T) c.600-34G>T (n.600-34G>T) c.*515-34G>T (n.*515-34G>T) c.*131-34G>T (n.*131-34G>T) c.265-34G>T (n.265-34G>T) c.534-34G>T (n.534-34G>T) c.471-34G>T (n.471-34G>T) c.540-34G>T (n.540-34G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6474621C= | CA1151507148 | PLEKHG5 | c.303-34G= (n.303-34G=) c.477-34G= (n.477-34G=) c.414-34G= (n.414-34G=) n.745G= c.510-34G= (n.510-34G=) c.600-34G= (n.600-34G=) c.*515-34G= (n.*515-34G=) c.*131-34G= (n.*131-34G=) c.265-34G= (n.265-34G=) c.534-34G= (n.534-34G=) c.471-34G= (n.471-34G=) c.540-34G= (n.540-34G=) | |
1 | g.6474621C>G | CA2742323558 | PLEKHG5 | c.303-34G>C (n.303-34G>C) c.477-34G>C (n.477-34G>C) c.414-34G>C (n.414-34G>C) n.745G>C c.510-34G>C (n.510-34G>C) c.600-34G>C (n.600-34G>C) c.*515-34G>C (n.*515-34G>C) c.*131-34G>C (n.*131-34G>C) c.265-34G>C (n.265-34G>C) c.534-34G>C (n.534-34G>C) c.471-34G>C (n.471-34G>C) c.540-34G>C (n.540-34G>C) | |
1 | g.6474621C>T | CA2642979107 | PLEKHG5 | c.303-34G>A (n.303-34G>A) c.477-34G>A (n.477-34G>A) c.414-34G>A (n.414-34G>A) n.745G>A c.510-34G>A (n.510-34G>A) c.600-34G>A (n.600-34G>A) c.*515-34G>A (n.*515-34G>A) c.*131-34G>A (n.*131-34G>A) c.265-34G>A (n.265-34G>A) c.534-34G>A (n.534-34G>A) c.471-34G>A (n.471-34G>A) c.540-34G>A (n.540-34G>A) | gnomAD v4 |
1 | g.6474625_6474632del | CA1151507147 | PLEKHG5 | c.303-41_303-34del (n.303-41_303-34del) c.477-41_477-34del (n.477-41_477-34del) c.414-41_414-34del (n.414-41_414-34del) n.738_745del c.510-41_510-34del (n.510-41_510-34del) c.600-41_600-34del (n.600-41_600-34del) c.*515-41_*515-34del (n.*515-41_*515-34del) c.*131-41_*131-34del (n.*131-41_*131-34del) c.265-41_265-34del (n.265-41_265-34del) c.534-41_534-34del (n.534-41_534-34del) c.471-41_471-34del (n.471-41_471-34del) c.540-41_540-34del (n.540-41_540-34del) | dbSNP gnomAD v4 |
1 | g.6474622C>A | CA561892 | PLEKHG5 | c.303-35G>T (n.303-35G>T) c.477-35G>T (n.477-35G>T) c.414-35G>T (n.414-35G>T) n.744G>T c.510-35G>T (n.510-35G>T) c.600-35G>T (n.600-35G>T) c.*515-35G>T (n.*515-35G>T) c.*131-35G>T (n.*131-35G>T) c.265-35G>T (n.265-35G>T) c.534-35G>T (n.534-35G>T) c.471-35G>T (n.471-35G>T) c.540-35G>T (n.540-35G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474622C= | CA1143425071 | PLEKHG5 | c.303-35G= (n.303-35G=) c.477-35G= (n.477-35G=) c.414-35G= (n.414-35G=) n.744G= c.510-35G= (n.510-35G=) c.600-35G= (n.600-35G=) c.*515-35G= (n.*515-35G=) c.*131-35G= (n.*131-35G=) c.265-35G= (n.265-35G=) c.534-35G= (n.534-35G=) c.471-35G= (n.471-35G=) c.540-35G= (n.540-35G=) | |
1 | g.6474622C>T | CA520766021 | PLEKHG5 | c.303-35G>A (n.303-35G>A) c.477-35G>A (n.477-35G>A) c.414-35G>A (n.414-35G>A) n.744G>A c.510-35G>A (n.510-35G>A) c.600-35G>A (n.600-35G>A) c.*515-35G>A (n.*515-35G>A) c.*131-35G>A (n.*131-35G>A) c.265-35G>A (n.265-35G>A) c.534-35G>A (n.534-35G>A) c.471-35G>A (n.471-35G>A) c.540-35G>A (n.540-35G>A) | dbSNP gnomAD v2 |
1 | g.6474624G>A | CA1151507153 | PLEKHG5 | c.303-37C>T (n.303-37C>T) c.477-37C>T (n.477-37C>T) c.414-37C>T (n.414-37C>T) n.742C>T c.510-37C>T (n.510-37C>T) c.600-37C>T (n.600-37C>T) c.*515-37C>T (n.*515-37C>T) c.*131-37C>T (n.*131-37C>T) c.265-37C>T (n.265-37C>T) c.534-37C>T (n.534-37C>T) c.471-37C>T (n.471-37C>T) c.540-37C>T (n.540-37C>T) | dbSNP |
1 | g.6474624G>C | CA561893 | PLEKHG5 | c.303-37C>G (n.303-37C>G) c.477-37C>G (n.477-37C>G) c.414-37C>G (n.414-37C>G) n.742C>G c.510-37C>G (n.510-37C>G) c.600-37C>G (n.600-37C>G) c.*515-37C>G (n.*515-37C>G) c.*131-37C>G (n.*131-37C>G) c.265-37C>G (n.265-37C>G) c.534-37C>G (n.534-37C>G) c.471-37C>G (n.471-37C>G) c.540-37C>G (n.540-37C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474624G= | CA1151507152 | PLEKHG5 | c.303-37C= (n.303-37C=) c.477-37C= (n.477-37C=) c.414-37C= (n.414-37C=) n.742C= c.510-37C= (n.510-37C=) c.600-37C= (n.600-37C=) c.*515-37C= (n.*515-37C=) c.*131-37C= (n.*131-37C=) c.265-37C= (n.265-37C=) c.534-37C= (n.534-37C=) c.471-37C= (n.471-37C=) c.540-37C= (n.540-37C=) | |
1 | g.6474624G>T | CA737854943 | PLEKHG5 | c.303-37C>A (n.303-37C>A) c.477-37C>A (n.477-37C>A) c.414-37C>A (n.414-37C>A) n.742C>A c.510-37C>A (n.510-37C>A) c.600-37C>A (n.600-37C>A) c.*515-37C>A (n.*515-37C>A) c.*131-37C>A (n.*131-37C>A) c.265-37C>A (n.265-37C>A) c.534-37C>A (n.534-37C>A) c.471-37C>A (n.471-37C>A) c.540-37C>A (n.540-37C>A) | dbSNP |
1 | g.6474626C>A | CA2642979120 | PLEKHG5 | c.303-39G>T (n.303-39G>T) c.477-39G>T (n.477-39G>T) c.414-39G>T (n.414-39G>T) n.740G>T c.510-39G>T (n.510-39G>T) c.600-39G>T (n.600-39G>T) c.*515-39G>T (n.*515-39G>T) c.*131-39G>T (n.*131-39G>T) c.265-39G>T (n.265-39G>T) c.534-39G>T (n.534-39G>T) c.471-39G>T (n.471-39G>T) c.540-39G>T (n.540-39G>T) | gnomAD v4 |
1 | g.6474626C= | CA1151507155 | PLEKHG5 | c.303-39G= (n.303-39G=) c.477-39G= (n.477-39G=) c.414-39G= (n.414-39G=) n.740G= c.510-39G= (n.510-39G=) c.600-39G= (n.600-39G=) c.*515-39G= (n.*515-39G=) c.*131-39G= (n.*131-39G=) c.265-39G= (n.265-39G=) c.534-39G= (n.534-39G=) c.471-39G= (n.471-39G=) c.540-39G= (n.540-39G=) | |
1 | g.6474626C>G | CA561894 | PLEKHG5 | c.303-39G>C (n.303-39G>C) c.477-39G>C (n.477-39G>C) c.414-39G>C (n.414-39G>C) n.740G>C c.510-39G>C (n.510-39G>C) c.600-39G>C (n.600-39G>C) c.*515-39G>C (n.*515-39G>C) c.*131-39G>C (n.*131-39G>C) c.265-39G>C (n.265-39G>C) c.534-39G>C (n.534-39G>C) c.471-39G>C (n.471-39G>C) c.540-39G>C (n.540-39G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474626C>T | CA561895 | PLEKHG5 | c.303-39G>A (n.303-39G>A) c.477-39G>A (n.477-39G>A) c.414-39G>A (n.414-39G>A) n.740G>A c.510-39G>A (n.510-39G>A) c.600-39G>A (n.600-39G>A) c.*515-39G>A (n.*515-39G>A) c.*131-39G>A (n.*131-39G>A) c.265-39G>A (n.265-39G>A) c.534-39G>A (n.534-39G>A) c.471-39G>A (n.471-39G>A) c.540-39G>A (n.540-39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474627G>A | CA561896 | PLEKHG5 | c.303-40C>T (n.303-40C>T) c.477-40C>T (n.477-40C>T) c.414-40C>T (n.414-40C>T) n.739C>T c.510-40C>T (n.510-40C>T) c.600-40C>T (n.600-40C>T) c.*515-40C>T (n.*515-40C>T) c.*131-40C>T (n.*131-40C>T) c.265-40C>T (n.265-40C>T) c.534-40C>T (n.534-40C>T) c.471-40C>T (n.471-40C>T) c.540-40C>T (n.540-40C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474627G= | CA1143558452 | PLEKHG5 | c.303-40C= (n.303-40C=) c.477-40C= (n.477-40C=) c.414-40C= (n.414-40C=) n.739C= c.510-40C= (n.510-40C=) c.600-40C= (n.600-40C=) c.*515-40C= (n.*515-40C=) c.*131-40C= (n.*131-40C=) c.265-40C= (n.265-40C=) c.534-40C= (n.534-40C=) c.471-40C= (n.471-40C=) c.540-40C= (n.540-40C=) | |
1 | g.6474627G>T | CA2642979126 | PLEKHG5 | c.303-40C>A (n.303-40C>A) c.477-40C>A (n.477-40C>A) c.414-40C>A (n.414-40C>A) n.739C>A c.510-40C>A (n.510-40C>A) c.600-40C>A (n.600-40C>A) c.*515-40C>A (n.*515-40C>A) c.*131-40C>A (n.*131-40C>A) c.265-40C>A (n.265-40C>A) c.534-40C>A (n.534-40C>A) c.471-40C>A (n.471-40C>A) c.540-40C>A (n.540-40C>A) | gnomAD v4 |
1 | g.6474628G>A | CA2832538545 | PLEKHG5 | c.303-41C>T (n.303-41C>T) c.477-41C>T (n.477-41C>T) c.414-41C>T (n.414-41C>T) n.738C>T c.510-41C>T (n.510-41C>T) c.600-41C>T (n.600-41C>T) c.*515-41C>T (n.*515-41C>T) c.*131-41C>T (n.*131-41C>T) c.265-41C>T (n.265-41C>T) c.534-41C>T (n.534-41C>T) c.471-41C>T (n.471-41C>T) c.540-41C>T (n.540-41C>T) | |
1 | g.6474628G= | CA1151507160 | PLEKHG5 | c.303-41C= (n.303-41C=) c.477-41C= (n.477-41C=) c.414-41C= (n.414-41C=) n.738C= c.510-41C= (n.510-41C=) c.600-41C= (n.600-41C=) c.*515-41C= (n.*515-41C=) c.*131-41C= (n.*131-41C=) c.265-41C= (n.265-41C=) c.534-41C= (n.534-41C=) c.471-41C= (n.471-41C=) c.540-41C= (n.540-41C=) | |
1 | g.6474628G>T | CA561897 | PLEKHG5 | c.303-41C>A (n.303-41C>A) c.477-41C>A (n.477-41C>A) c.414-41C>A (n.414-41C>A) n.738C>A c.510-41C>A (n.510-41C>A) c.600-41C>A (n.600-41C>A) c.*515-41C>A (n.*515-41C>A) c.*131-41C>A (n.*131-41C>A) c.265-41C>A (n.265-41C>A) c.534-41C>A (n.534-41C>A) c.471-41C>A (n.471-41C>A) c.540-41C>A (n.540-41C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474629C= | CA1151507167 | PLEKHG5 | c.303-42G= (n.303-42G=) c.477-42G= (n.477-42G=) c.414-42G= (n.414-42G=) n.737G= c.510-42G= (n.510-42G=) c.600-42G= (n.600-42G=) c.*515-42G= (n.*515-42G=) c.*131-42G= (n.*131-42G=) c.265-42G= (n.265-42G=) c.534-42G= (n.534-42G=) c.471-42G= (n.471-42G=) c.540-42G= (n.540-42G=) | |
1 | g.6474629C>T | CA561898 | PLEKHG5 | c.303-42G>A (n.303-42G>A) c.477-42G>A (n.477-42G>A) c.414-42G>A (n.414-42G>A) n.737G>A c.510-42G>A (n.510-42G>A) c.600-42G>A (n.600-42G>A) c.*515-42G>A (n.*515-42G>A) c.*131-42G>A (n.*131-42G>A) c.265-42G>A (n.265-42G>A) c.534-42G>A (n.534-42G>A) c.471-42G>A (n.471-42G>A) c.540-42G>A (n.540-42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474630C= | CA1151507172 | PLEKHG5 | c.303-43G= (n.303-43G=) c.477-43G= (n.477-43G=) c.414-43G= (n.414-43G=) n.736G= c.510-43G= (n.510-43G=) c.600-43G= (n.600-43G=) c.*515-43G= (n.*515-43G=) c.*131-43G= (n.*131-43G=) c.265-43G= (n.265-43G=) c.534-43G= (n.534-43G=) c.471-43G= (n.471-43G=) c.540-43G= (n.540-43G=) | |
1 | g.6474630C>T | CA737854952 | PLEKHG5 | c.303-43G>A (n.303-43G>A) c.477-43G>A (n.477-43G>A) c.414-43G>A (n.414-43G>A) n.736G>A c.510-43G>A (n.510-43G>A) c.600-43G>A (n.600-43G>A) c.*515-43G>A (n.*515-43G>A) c.*131-43G>A (n.*131-43G>A) c.265-43G>A (n.265-43G>A) c.534-43G>A (n.534-43G>A) c.471-43G>A (n.471-43G>A) c.540-43G>A (n.540-43G>A) | dbSNP |
1 | g.6474631A= | CA1151507175 | PLEKHG5 | c.303-44T= (n.303-44T=) c.477-44T= (n.477-44T=) c.414-44T= (n.414-44T=) n.735T= c.510-44T= (n.510-44T=) c.600-44T= (n.600-44T=) c.*515-44T= (n.*515-44T=) c.*131-44T= (n.*131-44T=) c.265-44T= (n.265-44T=) c.534-44T= (n.534-44T=) c.471-44T= (n.471-44T=) c.540-44T= (n.540-44T=) | |
1 | g.6474631A>C | CA998179038 | PLEKHG5 | c.303-44T>G (n.303-44T>G) c.477-44T>G (n.477-44T>G) c.414-44T>G (n.414-44T>G) n.735T>G c.510-44T>G (n.510-44T>G) c.600-44T>G (n.600-44T>G) c.*515-44T>G (n.*515-44T>G) c.*131-44T>G (n.*131-44T>G) c.265-44T>G (n.265-44T>G) c.534-44T>G (n.534-44T>G) c.471-44T>G (n.471-44T>G) c.540-44T>G (n.540-44T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474634C>A | CA561900 | PLEKHG5 | c.303-47G>T (n.303-47G>T) c.477-47G>T (n.477-47G>T) c.414-47G>T (n.414-47G>T) n.732G>T c.510-47G>T (n.510-47G>T) c.600-47G>T (n.600-47G>T) c.*515-47G>T (n.*515-47G>T) c.*131-47G>T (n.*131-47G>T) c.265-47G>T (n.265-47G>T) c.534-47G>T (n.534-47G>T) c.471-47G>T (n.471-47G>T) c.540-47G>T (n.540-47G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474634C= | CA1145020116 | PLEKHG5 | c.303-47G= (n.303-47G=) c.477-47G= (n.477-47G=) c.414-47G= (n.414-47G=) n.732G= c.510-47G= (n.510-47G=) c.600-47G= (n.600-47G=) c.*515-47G= (n.*515-47G=) c.*131-47G= (n.*131-47G=) c.265-47G= (n.265-47G=) c.534-47G= (n.534-47G=) c.471-47G= (n.471-47G=) c.540-47G= (n.540-47G=) | |
1 | g.6474634C>T | CA561899 | PLEKHG5 | c.303-47G>A (n.303-47G>A) c.477-47G>A (n.477-47G>A) c.414-47G>A (n.414-47G>A) n.732G>A c.510-47G>A (n.510-47G>A) c.600-47G>A (n.600-47G>A) c.*515-47G>A (n.*515-47G>A) c.*131-47G>A (n.*131-47G>A) c.265-47G>A (n.265-47G>A) c.534-47G>A (n.534-47G>A) c.471-47G>A (n.471-47G>A) c.540-47G>A (n.540-47G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.6474635G>A | CA561901 | PLEKHG5 | c.303-48C>T (n.303-48C>T) c.477-48C>T (n.477-48C>T) c.414-48C>T (n.414-48C>T) n.731C>T c.510-48C>T (n.510-48C>T) c.600-48C>T (n.600-48C>T) c.*515-48C>T (n.*515-48C>T) c.*131-48C>T (n.*131-48C>T) c.265-48C>T (n.265-48C>T) c.534-48C>T (n.534-48C>T) c.471-48C>T (n.471-48C>T) c.540-48C>T (n.540-48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474635G>C | CA2574193664 | PLEKHG5 | c.303-48C>G (n.303-48C>G) c.477-48C>G (n.477-48C>G) c.414-48C>G (n.414-48C>G) n.731C>G c.510-48C>G (n.510-48C>G) c.600-48C>G (n.600-48C>G) c.*515-48C>G (n.*515-48C>G) c.*131-48C>G (n.*131-48C>G) c.265-48C>G (n.265-48C>G) c.534-48C>G (n.534-48C>G) c.471-48C>G (n.471-48C>G) c.540-48C>G (n.540-48C>G) | gnomAD v4 |
1 | g.6474635G= | CA1141242950 | PLEKHG5 | c.303-48C= (n.303-48C=) c.477-48C= (n.477-48C=) c.414-48C= (n.414-48C=) n.731C= c.510-48C= (n.510-48C=) c.600-48C= (n.600-48C=) c.*515-48C= (n.*515-48C=) c.*131-48C= (n.*131-48C=) c.265-48C= (n.265-48C=) c.534-48C= (n.534-48C=) c.471-48C= (n.471-48C=) c.540-48C= (n.540-48C=) | |
1 | g.6474635G>T | CA2642979152 | PLEKHG5 | c.303-48C>A (n.303-48C>A) c.477-48C>A (n.477-48C>A) c.414-48C>A (n.414-48C>A) n.731C>A c.510-48C>A (n.510-48C>A) c.600-48C>A (n.600-48C>A) c.*515-48C>A (n.*515-48C>A) c.*131-48C>A (n.*131-48C>A) c.265-48C>A (n.265-48C>A) c.534-48C>A (n.534-48C>A) c.471-48C>A (n.471-48C>A) c.540-48C>A (n.540-48C>A) | gnomAD v4 |
1 | g.6474639C>A | CA2642979155 | PLEKHG5 | c.303-52G>T (n.303-52G>T) c.477-52G>T (n.477-52G>T) c.414-52G>T (n.414-52G>T) n.727G>T c.510-52G>T (n.510-52G>T) c.600-52G>T (n.600-52G>T) c.*515-52G>T (n.*515-52G>T) c.*131-52G>T (n.*131-52G>T) c.265-52G>T (n.265-52G>T) c.534-52G>T (n.534-52G>T) c.471-52G>T (n.471-52G>T) c.540-52G>T (n.540-52G>T) | gnomAD v4 |
1 | g.6474640A>G | CA2642979158 | PLEKHG5 | c.303-53T>C (n.303-53T>C) c.477-53T>C (n.477-53T>C) c.414-53T>C (n.414-53T>C) n.726T>C c.510-53T>C (n.510-53T>C) c.600-53T>C (n.600-53T>C) c.*515-53T>C (n.*515-53T>C) c.*131-53T>C (n.*131-53T>C) c.265-53T>C (n.265-53T>C) c.534-53T>C (n.534-53T>C) c.471-53T>C (n.471-53T>C) c.540-53T>C (n.540-53T>C) | gnomAD v4 |
1 | g.6474641G>T | CA2642979165 | PLEKHG5 | c.303-54C>A (n.303-54C>A) c.477-54C>A (n.477-54C>A) c.414-54C>A (n.414-54C>A) n.725C>A c.510-54C>A (n.510-54C>A) c.600-54C>A (n.600-54C>A) c.*515-54C>A (n.*515-54C>A) c.*131-54C>A (n.*131-54C>A) c.265-54C>A (n.265-54C>A) c.534-54C>A (n.534-54C>A) c.471-54C>A (n.471-54C>A) c.540-54C>A (n.540-54C>A) | gnomAD v4 |
1 | g.6474643T>C | CA2642979168 | PLEKHG5 | c.303-56A>G (n.303-56A>G) c.477-56A>G (n.477-56A>G) c.414-56A>G (n.414-56A>G) n.723A>G c.510-56A>G (n.510-56A>G) c.600-56A>G (n.600-56A>G) c.*515-56A>G (n.*515-56A>G) c.*131-56A>G (n.*131-56A>G) c.264+54A>G (n.264+54A>G) c.534-56A>G (n.534-56A>G) c.471-56A>G (n.471-56A>G) c.540-56A>G (n.540-56A>G) | gnomAD v4 |
1 | g.6474644del | CA2574193665 | PLEKHG5 | c.303-56del (n.303-56del) c.477-56del (n.477-56del) c.414-56del (n.414-56del) n.723del c.510-56del (n.510-56del) c.600-56del (n.600-56del) c.*515-56del (n.*515-56del) c.*131-56del (n.*131-56del) c.264+54del (n.264+54del) c.534-56del (n.534-56del) c.471-56del (n.471-56del) c.540-56del (n.540-56del) | |
1 | g.6474644T>C | CA2695502639 | PLEKHG5 | c.303-57A>G (n.303-57A>G) c.477-57A>G (n.477-57A>G) c.414-57A>G (n.414-57A>G) n.722A>G c.510-57A>G (n.510-57A>G) c.600-57A>G (n.600-57A>G) c.*515-57A>G (n.*515-57A>G) c.*131-57A>G (n.*131-57A>G) c.264+53A>G (n.264+53A>G) c.534-57A>G (n.534-57A>G) c.471-57A>G (n.471-57A>G) c.540-57A>G (n.540-57A>G) | dbSNP |
1 | g.6474645G>A | CA2742323559 | PLEKHG5 | c.303-58C>T (n.303-58C>T) c.477-58C>T (n.477-58C>T) c.414-58C>T (n.414-58C>T) n.721C>T c.510-58C>T (n.510-58C>T) c.600-58C>T (n.600-58C>T) c.*515-58C>T (n.*515-58C>T) c.*131-58C>T (n.*131-58C>T) c.264+52C>T (n.264+52C>T) c.534-58C>T (n.534-58C>T) c.471-58C>T (n.471-58C>T) c.540-58C>T (n.540-58C>T) | |
1 | g.6474645G>T | CA2642979171 | PLEKHG5 | c.303-58C>A (n.303-58C>A) c.477-58C>A (n.477-58C>A) c.414-58C>A (n.414-58C>A) n.721C>A c.510-58C>A (n.510-58C>A) c.600-58C>A (n.600-58C>A) c.*515-58C>A (n.*515-58C>A) c.*131-58C>A (n.*131-58C>A) c.264+52C>A (n.264+52C>A) c.534-58C>A (n.534-58C>A) c.471-58C>A (n.471-58C>A) c.540-58C>A (n.540-58C>A) | gnomAD v4 |
1 | g.6474647dup | CA2574193667 | PLEKHG5 | c.303-58dup (n.303-58dup) c.477-58dup (n.477-58dup) c.414-58dup (n.414-58dup) n.721dup c.510-58dup (n.510-58dup) c.600-58dup (n.600-58dup) c.*515-58dup (n.*515-58dup) c.*131-58dup (n.*131-58dup) c.264+52dup (n.264+52dup) c.534-58dup (n.534-58dup) c.471-58dup (n.471-58dup) c.540-58dup (n.540-58dup) | gnomAD v4 |
1 | g.6474647del | CA2574193668 | PLEKHG5 | c.303-58del (n.303-58del) c.477-58del (n.477-58del) c.414-58del (n.414-58del) n.721del c.510-58del (n.510-58del) c.600-58del (n.600-58del) c.*515-58del (n.*515-58del) c.*131-58del (n.*131-58del) c.264+52del (n.264+52del) c.534-58del (n.534-58del) c.471-58del (n.471-58del) c.540-58del (n.540-58del) | |
1 | g.6474646G>T | CA2642979174 | PLEKHG5 | c.303-59C>A (n.303-59C>A) c.477-59C>A (n.477-59C>A) c.414-59C>A (n.414-59C>A) n.720C>A c.510-59C>A (n.510-59C>A) c.600-59C>A (n.600-59C>A) c.*515-59C>A (n.*515-59C>A) c.*131-59C>A (n.*131-59C>A) c.264+51C>A (n.264+51C>A) c.534-59C>A (n.534-59C>A) c.471-59C>A (n.471-59C>A) c.540-59C>A (n.540-59C>A) | gnomAD v4 |
1 | g.6474647G= | CA1151507189 | PLEKHG5 | c.303-60C= (n.303-60C=) c.477-60C= (n.477-60C=) c.414-60C= (n.414-60C=) n.719C= c.510-60C= (n.510-60C=) c.600-60C= (n.600-60C=) c.*515-60C= (n.*515-60C=) c.*131-60C= (n.*131-60C=) c.264+50C= (n.264+50C=) c.534-60C= (n.534-60C=) c.471-60C= (n.471-60C=) c.540-60C= (n.540-60C=) | |
1 | g.6474647G>T | CA1151507190 | PLEKHG5 | c.303-60C>A (n.303-60C>A) c.477-60C>A (n.477-60C>A) c.414-60C>A (n.414-60C>A) n.719C>A c.510-60C>A (n.510-60C>A) c.600-60C>A (n.600-60C>A) c.*515-60C>A (n.*515-60C>A) c.*131-60C>A (n.*131-60C>A) c.264+50C>A (n.264+50C>A) c.534-60C>A (n.534-60C>A) c.471-60C>A (n.471-60C>A) c.540-60C>A (n.540-60C>A) | dbSNP gnomAD v4 |
1 | g.6474647_6474648insGC | CA2642979243 | PLEKHG5 | c.303-61_303-60insGC (n.303-61_303-60insGC) c.477-61_477-60insGC (n.477-61_477-60insGC) c.414-61_414-60insGC (n.414-61_414-60insGC) n.718_719insGC c.510-61_510-60insGC (n.510-61_510-60insGC) c.600-61_600-60insGC (n.600-61_600-60insGC) c.*515-61_*515-60insGC (n.*515-61_*515-60insGC) c.*131-61_*131-60insGC (n.*131-61_*131-60insGC) c.264+49_264+50insGC (n.264+49_264+50insGC) c.534-61_534-60insGC (n.534-61_534-60insGC) c.471-61_471-60insGC (n.471-61_471-60insGC) c.540-61_540-60insGC (n.540-61_540-60insGC) | gnomAD v4 |
1 | g.6474647_6474648insGCC | CA2592134457 | PLEKHG5 | c.303-61_303-60insGGC (n.303-61_303-60insGGC) c.477-61_477-60insGGC (n.477-61_477-60insGGC) c.414-61_414-60insGGC (n.414-61_414-60insGGC) n.718_719insGGC c.510-61_510-60insGGC (n.510-61_510-60insGGC) c.600-61_600-60insGGC (n.600-61_600-60insGGC) c.*515-61_*515-60insGGC (n.*515-61_*515-60insGGC) c.*131-61_*131-60insGGC (n.*131-61_*131-60insGGC) c.264+49_264+50insGGC (n.264+49_264+50insGGC) c.534-61_534-60insGGC (n.534-61_534-60insGGC) c.471-61_471-60insGGC (n.471-61_471-60insGGC) c.540-61_540-60insGGC (n.540-61_540-60insGGC) | gnomAD v3 gnomAD v4 |
1 | g.6474647_6474648insGCCC | CA2642979246 | PLEKHG5 | c.303-61_303-60insGGGC (n.303-61_303-60insGGGC) c.477-61_477-60insGGGC (n.477-61_477-60insGGGC) c.414-61_414-60insGGGC (n.414-61_414-60insGGGC) n.718_719insGGGC c.510-61_510-60insGGGC (n.510-61_510-60insGGGC) c.600-61_600-60insGGGC (n.600-61_600-60insGGGC) c.*515-61_*515-60insGGGC (n.*515-61_*515-60insGGGC) c.*131-61_*131-60insGGGC (n.*131-61_*131-60insGGGC) c.264+49_264+50insGGGC (n.264+49_264+50insGGGC) c.534-61_534-60insGGGC (n.534-61_534-60insGGGC) c.471-61_471-60insGGGC (n.471-61_471-60insGGGC) c.540-61_540-60insGGGC (n.540-61_540-60insGGGC) | gnomAD v4 |
1 | g.6474647_6474648insGCCCC | CA2592134456 | PLEKHG5 | c.303-61_303-60insGGGGC (n.303-61_303-60insGGGGC) c.477-61_477-60insGGGGC (n.477-61_477-60insGGGGC) c.414-61_414-60insGGGGC (n.414-61_414-60insGGGGC) n.718_719insGGGGC c.510-61_510-60insGGGGC (n.510-61_510-60insGGGGC) c.600-61_600-60insGGGGC (n.600-61_600-60insGGGGC) c.*515-61_*515-60insGGGGC (n.*515-61_*515-60insGGGGC) c.*131-61_*131-60insGGGGC (n.*131-61_*131-60insGGGGC) c.264+49_264+50insGGGGC (n.264+49_264+50insGGGGC) c.534-61_534-60insGGGGC (n.534-61_534-60insGGGGC) c.471-61_471-60insGGGGC (n.471-61_471-60insGGGGC) c.540-61_540-60insGGGGC (n.540-61_540-60insGGGGC) | gnomAD v3 gnomAD v4 |
1 | g.6474647_6474648insGCCCCCCCC | CA1151507198 | PLEKHG5 | c.303-61_303-60insGGGGGGGGC (n.303-61_303-60insGGGGGGGGC) c.477-61_477-60insGGGGGGGGC (n.477-61_477-60insGGGGGGGGC) c.414-61_414-60insGGGGGGGGC (n.414-61_414-60insGGGGGGGGC) n.718_719insGGGGGGGGC c.510-61_510-60insGGGGGGGGC (n.510-61_510-60insGGGGGGGGC) c.600-61_600-60insGGGGGGGGC (n.600-61_600-60insGGGGGGGGC) c.*515-61_*515-60insGGGGGGGGC (n.*515-61_*515-60insGGGGGGGGC) c.*131-61_*131-60insGGGGGGGGC (n.*131-61_*131-60insGGGGGGGGC) c.264+49_264+50insGGGGGGGGC (n.264+49_264+50insGGGGGGGGC) c.534-61_534-60insGGGGGGGGC (n.534-61_534-60insGGGGGGGGC) c.471-61_471-60insGGGGGGGGC (n.471-61_471-60insGGGGGGGGC) c.540-61_540-60insGGGGGGGGC (n.540-61_540-60insGGGGGGGGC) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474647_6474648insGCCCCCCCCC | CA2642979256 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGC (n.303-61_303-60insGGGGGGGGGC) c.477-61_477-60insGGGGGGGGGC (n.477-61_477-60insGGGGGGGGGC) c.414-61_414-60insGGGGGGGGGC (n.414-61_414-60insGGGGGGGGGC) n.718_719insGGGGGGGGGC c.510-61_510-60insGGGGGGGGGC (n.510-61_510-60insGGGGGGGGGC) c.600-61_600-60insGGGGGGGGGC (n.600-61_600-60insGGGGGGGGGC) c.*515-61_*515-60insGGGGGGGGGC (n.*515-61_*515-60insGGGGGGGGGC) c.*131-61_*131-60insGGGGGGGGGC (n.*131-61_*131-60insGGGGGGGGGC) c.264+49_264+50insGGGGGGGGGC (n.264+49_264+50insGGGGGGGGGC) c.534-61_534-60insGGGGGGGGGC (n.534-61_534-60insGGGGGGGGGC) c.471-61_471-60insGGGGGGGGGC (n.471-61_471-60insGGGGGGGGGC) c.540-61_540-60insGGGGGGGGGC (n.540-61_540-60insGGGGGGGGGC) | gnomAD v4 |
1 | g.6474647_6474648insGCCCCCCCCCC | CA2642979261 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGC (n.303-61_303-60insGGGGGGGGGGC) c.477-61_477-60insGGGGGGGGGGC (n.477-61_477-60insGGGGGGGGGGC) c.414-61_414-60insGGGGGGGGGGC (n.414-61_414-60insGGGGGGGGGGC) n.718_719insGGGGGGGGGGC c.510-61_510-60insGGGGGGGGGGC (n.510-61_510-60insGGGGGGGGGGC) c.600-61_600-60insGGGGGGGGGGC (n.600-61_600-60insGGGGGGGGGGC) c.*515-61_*515-60insGGGGGGGGGGC (n.*515-61_*515-60insGGGGGGGGGGC) c.*131-61_*131-60insGGGGGGGGGGC (n.*131-61_*131-60insGGGGGGGGGGC) c.264+49_264+50insGGGGGGGGGGC (n.264+49_264+50insGGGGGGGGGGC) c.534-61_534-60insGGGGGGGGGGC (n.534-61_534-60insGGGGGGGGGGC) c.471-61_471-60insGGGGGGGGGGC (n.471-61_471-60insGGGGGGGGGGC) c.540-61_540-60insGGGGGGGGGGC (n.540-61_540-60insGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474647_6474648insGCCCCCCCCCCC | CA2642979263 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGC (n.303-61_303-60insGGGGGGGGGGGC) c.477-61_477-60insGGGGGGGGGGGC (n.477-61_477-60insGGGGGGGGGGGC) c.414-61_414-60insGGGGGGGGGGGC (n.414-61_414-60insGGGGGGGGGGGC) n.718_719insGGGGGGGGGGGC c.510-61_510-60insGGGGGGGGGGGC (n.510-61_510-60insGGGGGGGGGGGC) c.600-61_600-60insGGGGGGGGGGGC (n.600-61_600-60insGGGGGGGGGGGC) c.*515-61_*515-60insGGGGGGGGGGGC (n.*515-61_*515-60insGGGGGGGGGGGC) c.*131-61_*131-60insGGGGGGGGGGGC (n.*131-61_*131-60insGGGGGGGGGGGC) c.264+49_264+50insGGGGGGGGGGGC (n.264+49_264+50insGGGGGGGGGGGC) c.534-61_534-60insGGGGGGGGGGGC (n.534-61_534-60insGGGGGGGGGGGC) c.471-61_471-60insGGGGGGGGGGGC (n.471-61_471-60insGGGGGGGGGGGC) c.540-61_540-60insGGGGGGGGGGGC (n.540-61_540-60insGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474647_6474648insGCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979268 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGC) c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGC) c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGC) n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGC c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGC) c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGC) c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGC) c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGC) c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGC (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGC) c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGC) c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGC) c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474647_6474648insGCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979240 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474647_6474648insGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979278 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474647_6474648insGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979270 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474648C>A | CA17243949 | PLEKHG5 | c.303-61G>T (n.303-61G>T) c.477-61G>T (n.477-61G>T) c.414-61G>T (n.414-61G>T) n.718G>T c.510-61G>T (n.510-61G>T) c.600-61G>T (n.600-61G>T) c.*515-61G>T (n.*515-61G>T) c.*131-61G>T (n.*131-61G>T) c.264+49G>T (n.264+49G>T) c.534-61G>T (n.534-61G>T) c.471-61G>T (n.471-61G>T) c.540-61G>T (n.540-61G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474648C= | CA1151507201 | PLEKHG5 | c.303-61G= (n.303-61G=) c.477-61G= (n.477-61G=) c.414-61G= (n.414-61G=) n.718G= c.510-61G= (n.510-61G=) c.600-61G= (n.600-61G=) c.*515-61G= (n.*515-61G=) c.*131-61G= (n.*131-61G=) c.264+49G= (n.264+49G=) c.534-61G= (n.534-61G=) c.471-61G= (n.471-61G=) c.540-61G= (n.540-61G=) | |
1 | g.6474648C>G | CA1151507200 | PLEKHG5 | c.303-61G>C (n.303-61G>C) c.477-61G>C (n.477-61G>C) c.414-61G>C (n.414-61G>C) n.718G>C c.510-61G>C (n.510-61G>C) c.600-61G>C (n.600-61G>C) c.*515-61G>C (n.*515-61G>C) c.*131-61G>C (n.*131-61G>C) c.264+49G>C (n.264+49G>C) c.534-61G>C (n.534-61G>C) c.471-61G>C (n.471-61G>C) c.540-61G>C (n.540-61G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474648C>T | CA2574193676 | PLEKHG5 | c.303-61G>A (n.303-61G>A) c.477-61G>A (n.477-61G>A) c.414-61G>A (n.414-61G>A) n.718G>A c.510-61G>A (n.510-61G>A) c.600-61G>A (n.600-61G>A) c.*515-61G>A (n.*515-61G>A) c.*131-61G>A (n.*131-61G>A) c.264+49G>A (n.264+49G>A) c.534-61G>A (n.534-61G>A) c.471-61G>A (n.471-61G>A) c.540-61G>A (n.540-61G>A) | gnomAD v4 |
1 | g.6474648_6474651del | CA2642979282 | PLEKHG5 | c.303-64_303-61del (n.303-64_303-61del) c.477-64_477-61del (n.477-64_477-61del) c.414-64_414-61del (n.414-64_414-61del) n.715_718del c.510-64_510-61del (n.510-64_510-61del) c.600-64_600-61del (n.600-64_600-61del) c.*515-64_*515-61del (n.*515-64_*515-61del) c.*131-64_*131-61del (n.*131-64_*131-61del) c.264+46_264+49del (n.264+46_264+49del) c.534-64_534-61del (n.534-64_534-61del) c.471-64_471-61del (n.471-64_471-61del) c.540-64_540-61del (n.540-64_540-61del) | gnomAD v4 |
1 | g.6474651_6474652insCCCCC | CA2642979302 | PLEKHG5 | c.303-61_303-60insGGGGG (n.303-61_303-60insGGGGG) c.477-61_477-60insGGGGG (n.477-61_477-60insGGGGG) c.414-61_414-60insGGGGG (n.414-61_414-60insGGGGG) n.718_719insGGGGG c.510-61_510-60insGGGGG (n.510-61_510-60insGGGGG) c.600-61_600-60insGGGGG (n.600-61_600-60insGGGGG) c.*515-61_*515-60insGGGGG (n.*515-61_*515-60insGGGGG) c.*131-61_*131-60insGGGGG (n.*131-61_*131-60insGGGGG) c.264+49_264+50insGGGGG (n.264+49_264+50insGGGGG) c.534-61_534-60insGGGGG (n.534-61_534-60insGGGGG) c.471-61_471-60insGGGGG (n.471-61_471-60insGGGGG) c.540-61_540-60insGGGGG (n.540-61_540-60insGGGGG) | gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCC | CA2695262128 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGG) c.477-61_477-60insGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGG) c.414-61_414-60insGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGG) n.718_719insGGGGGGGGGG c.510-61_510-60insGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGG) c.600-61_600-60insGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGG) c.*515-61_*515-60insGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGG) c.*131-61_*131-60insGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGG) c.264+49_264+50insGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGG) c.534-61_534-60insGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGG) c.471-61_471-60insGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGG) c.540-61_540-60insGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGG) | dbSNP |
1 | g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCC | CA2642979315 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGG) c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGG) c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGG) n.718_719insGGGGGGGGGGGGGGGGGGGGG c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGG) c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGG) c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGG) c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGG) c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGG) c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGG) c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGG) c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCC | CA2642979343 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGG) c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGG) c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGG) n.718_719insGGGGGGGGGGGGGGGGGGGGGG c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGG) c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGG) c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGG) c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGG) c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGG) c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGG) c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGG) c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCC | CA2592134458 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG) c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGG) c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGG) n.718_719insGGGGGGGGGGGGGGGGGGGGGGG c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGG) c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGG) c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGG) c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGG) c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGG) c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGG) c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGG) c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979385 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCACCCCCCCCCCCCCCCCCCC | CA2642979304 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG) c.477-61_477-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG) c.414-61_414-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG) n.718_719insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG c.510-61_510-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG) c.600-61_600-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG) c.*515-61_*515-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG) c.*131-61_*131-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG) c.264+49_264+50insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG) c.534-61_534-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG) c.471-61_471-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG) c.540-61_540-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2592134460 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979377 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCAACCCCCCCCCCCCCCCCCCCC | CA998179060 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG) c.477-61_477-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG) c.414-61_414-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG) n.718_719insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG c.510-61_510-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG) c.600-61_600-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG) c.*515-61_*515-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG) c.*131-61_*131-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG) c.264+49_264+50insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG) c.534-61_534-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG) c.471-61_471-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG) c.540-61_540-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCCACCCCCCCCCCCCCCCCCCCC | CA2592134459 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.477-61_477-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.414-61_414-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) n.718_719insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG c.510-61_510-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.600-61_600-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.*515-61_*515-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.*131-61_*131-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.264+49_264+50insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.534-61_534-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.471-61_471-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.540-61_540-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCC | CA2642979312 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.477-61_477-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.414-61_414-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) n.718_719insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG c.510-61_510-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.600-61_600-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.*515-61_*515-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.*131-61_*131-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.264+49_264+50insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.534-61_534-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.471-61_471-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) c.540-61_540-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979335 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCAGCCCCCCCCCCCCCCCCCACCCCCCCC | CA2642979310 | PLEKHG5 | c.303-61_303-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.303-61_303-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG) c.477-61_477-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.477-61_477-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG) c.414-61_414-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.414-61_414-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG) n.718_719insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG c.510-61_510-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.510-61_510-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG) c.600-61_600-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.600-61_600-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG) c.*515-61_*515-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG) c.*131-61_*131-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG) c.264+49_264+50insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.264+49_264+50insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG) c.534-61_534-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.534-61_534-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG) c.471-61_471-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.471-61_471-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG) c.540-61_540-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.540-61_540-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2742323560 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
1 | g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979326 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979323 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979292 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979320 | PLEKHG5 | c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474651dup | CA415834190 | PLEKHG5 | c.303-61dup (n.303-61dup) c.477-61dup (n.477-61dup) c.414-61dup (n.414-61dup) n.718dup c.510-61dup (n.510-61dup) c.600-61dup (n.600-61dup) c.*515-61dup (n.*515-61dup) c.*131-61dup (n.*131-61dup) c.264+49dup (n.264+49dup) c.534-61dup (n.534-61dup) c.471-61dup (n.471-61dup) c.540-61dup (n.540-61dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474650_6474651dup | CA2642979295 | PLEKHG5 | c.303-62_303-61dup (n.303-62_303-61dup) c.477-62_477-61dup (n.477-62_477-61dup) c.414-62_414-61dup (n.414-62_414-61dup) n.717_718dup c.510-62_510-61dup (n.510-62_510-61dup) c.600-62_600-61dup (n.600-62_600-61dup) c.*515-62_*515-61dup (n.*515-62_*515-61dup) c.*131-62_*131-61dup (n.*131-62_*131-61dup) c.264+48_264+49dup (n.264+48_264+49dup) c.534-62_534-61dup (n.534-62_534-61dup) c.471-62_471-61dup (n.471-62_471-61dup) c.540-62_540-61dup (n.540-62_540-61dup) | gnomAD v4 |
1 | g.6474649_6474651dup | CA998179055 | PLEKHG5 | c.303-63_303-61dup (n.303-63_303-61dup) c.477-63_477-61dup (n.477-63_477-61dup) c.414-63_414-61dup (n.414-63_414-61dup) n.716_718dup c.510-63_510-61dup (n.510-63_510-61dup) c.600-63_600-61dup (n.600-63_600-61dup) c.*515-63_*515-61dup (n.*515-63_*515-61dup) c.*131-63_*131-61dup (n.*131-63_*131-61dup) c.264+47_264+49dup (n.264+47_264+49dup) c.534-63_534-61dup (n.534-63_534-61dup) c.471-63_471-61dup (n.471-63_471-61dup) c.540-63_540-61dup (n.540-63_540-61dup) | gnomAD v3 gnomAD v4 |
1 | g.6474648_6474651dup | CA998179057 | PLEKHG5 | c.303-64_303-61dup (n.303-64_303-61dup) c.477-64_477-61dup (n.477-64_477-61dup) c.414-64_414-61dup (n.414-64_414-61dup) n.715_718dup c.510-64_510-61dup (n.510-64_510-61dup) c.600-64_600-61dup (n.600-64_600-61dup) c.*515-64_*515-61dup (n.*515-64_*515-61dup) c.*131-64_*131-61dup (n.*131-64_*131-61dup) c.264+46_264+49dup (n.264+46_264+49dup) c.534-64_534-61dup (n.534-64_534-61dup) c.471-64_471-61dup (n.471-64_471-61dup) c.540-64_540-61dup (n.540-64_540-61dup) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474651del | CA2574193674 | PLEKHG5 | c.303-61del (n.303-61del) c.477-61del (n.477-61del) c.414-61del (n.414-61del) n.718del c.510-61del (n.510-61del) c.600-61del (n.600-61del) c.*515-61del (n.*515-61del) c.*131-61del (n.*131-61del) c.264+49del (n.264+49del) c.534-61del (n.534-61del) c.471-61del (n.471-61del) c.540-61del (n.540-61del) | gnomAD v4 |
1 | g.6474657_6474672del | CA998179084 | PLEKHG5 | c.303-76_303-61del (n.303-76_303-61del) c.477-76_477-61del (n.477-76_477-61del) c.414-76_414-61del (n.414-76_414-61del) n.703_718del c.510-76_510-61del (n.510-76_510-61del) c.600-76_600-61del (n.600-76_600-61del) c.*515-76_*515-61del (n.*515-76_*515-61del) c.*131-76_*131-61del (n.*131-76_*131-61del) c.264+34_264+49del (n.264+34_264+49del) c.534-76_534-61del (n.534-76_534-61del) c.471-76_471-61del (n.471-76_471-61del) c.540-76_540-61del (n.540-76_540-61del) | gnomAD v3 gnomAD v4 |
1 | g.6474649C>A | CA2642979400 | PLEKHG5 | c.303-62G>T (n.303-62G>T) c.477-62G>T (n.477-62G>T) c.414-62G>T (n.414-62G>T) n.717G>T c.510-62G>T (n.510-62G>T) c.600-62G>T (n.600-62G>T) c.*515-62G>T (n.*515-62G>T) c.*131-62G>T (n.*131-62G>T) c.264+48G>T (n.264+48G>T) c.534-62G>T (n.534-62G>T) c.471-62G>T (n.471-62G>T) c.540-62G>T (n.540-62G>T) | gnomAD v4 |
1 | g.6474649C>T | CA2642979404 | PLEKHG5 | c.303-62G>A (n.303-62G>A) c.477-62G>A (n.477-62G>A) c.414-62G>A (n.414-62G>A) n.717G>A c.510-62G>A (n.510-62G>A) c.600-62G>A (n.600-62G>A) c.*515-62G>A (n.*515-62G>A) c.*131-62G>A (n.*131-62G>A) c.264+48G>A (n.264+48G>A) c.534-62G>A (n.534-62G>A) c.471-62G>A (n.471-62G>A) c.540-62G>A (n.540-62G>A) | gnomAD v4 |
1 | g.6474650C>A | CA2840114472 | PLEKHG5 | c.303-63G>T (n.303-63G>T) c.477-63G>T (n.477-63G>T) c.414-63G>T (n.414-63G>T) n.716G>T c.510-63G>T (n.510-63G>T) c.600-63G>T (n.600-63G>T) c.*515-63G>T (n.*515-63G>T) c.*131-63G>T (n.*131-63G>T) c.264+47G>T (n.264+47G>T) c.534-63G>T (n.534-63G>T) c.471-63G>T (n.471-63G>T) c.540-63G>T (n.540-63G>T) | |
1 | g.6474650C>T | CA2574193684 | PLEKHG5 | c.303-63G>A (n.303-63G>A) c.477-63G>A (n.477-63G>A) c.414-63G>A (n.414-63G>A) n.716G>A c.510-63G>A (n.510-63G>A) c.600-63G>A (n.600-63G>A) c.*515-63G>A (n.*515-63G>A) c.*131-63G>A (n.*131-63G>A) c.264+47G>A (n.264+47G>A) c.534-63G>A (n.534-63G>A) c.471-63G>A (n.471-63G>A) c.540-63G>A (n.540-63G>A) | gnomAD v4 |
1 | g.6474651C>A | CA2642979415 | PLEKHG5 | c.303-64G>T (n.303-64G>T) c.477-64G>T (n.477-64G>T) c.414-64G>T (n.414-64G>T) n.715G>T c.510-64G>T (n.510-64G>T) c.600-64G>T (n.600-64G>T) c.*515-64G>T (n.*515-64G>T) c.*131-64G>T (n.*131-64G>T) c.264+46G>T (n.264+46G>T) c.534-64G>T (n.534-64G>T) c.471-64G>T (n.471-64G>T) c.540-64G>T (n.540-64G>T) | gnomAD v4 |
1 | g.6474651C= | CA1146625757 | PLEKHG5 | c.303-64G= (n.303-64G=) c.477-64G= (n.477-64G=) c.414-64G= (n.414-64G=) n.715G= c.510-64G= (n.510-64G=) c.600-64G= (n.600-64G=) c.*515-64G= (n.*515-64G=) c.*131-64G= (n.*131-64G=) c.264+46G= (n.264+46G=) c.534-64G= (n.534-64G=) c.471-64G= (n.471-64G=) c.540-64G= (n.540-64G=) | |
1 | g.6474651C>T | CA17243952 | PLEKHG5 | c.303-64G>A (n.303-64G>A) c.477-64G>A (n.477-64G>A) c.414-64G>A (n.414-64G>A) n.715G>A c.510-64G>A (n.510-64G>A) c.600-64G>A (n.600-64G>A) c.*515-64G>A (n.*515-64G>A) c.*131-64G>A (n.*131-64G>A) c.264+46G>A (n.264+46G>A) c.534-64G>A (n.534-64G>A) c.471-64G>A (n.471-64G>A) c.540-64G>A (n.540-64G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCAC | CA2742323561 | PLEKHG5 | c.303-64_303-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-64_303-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-64_477-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-64_477-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-64_414-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-64_414-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.715_716insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-64_510-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-64_510-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-64_600-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-64_600-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-64_*515-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-64_*515-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-64_*131-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-64_*131-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+46_264+47insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+46_264+47insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-64_534-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-64_534-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-64_471-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-64_471-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-64_540-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-64_540-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
1 | g.6474651_6474652delinsCG | CA1151507213 | PLEKHG5 | c.303-65_303-64delinsCG (n.303-65_303-64delinsCG) c.477-65_477-64delinsCG (n.477-65_477-64delinsCG) c.414-65_414-64delinsCG (n.414-65_414-64delinsCG) n.714_715delinsCG c.510-65_510-64delinsCG (n.510-65_510-64delinsCG) c.600-65_600-64delinsCG (n.600-65_600-64delinsCG) c.*515-65_*515-64delinsCG (n.*515-65_*515-64delinsCG) c.*131-65_*131-64delinsCG (n.*131-65_*131-64delinsCG) c.264+45_264+46delinsCG (n.264+45_264+46delinsCG) c.534-65_534-64delinsCG (n.534-65_534-64delinsCG) c.471-65_471-64delinsCG (n.471-65_471-64delinsCG) c.540-65_540-64delinsCG (n.540-65_540-64delinsCG) | |
1 | g.6474651_6474652insCCCCCCCCCA | CA2642979439 | PLEKHG5 | c.303-65_303-64insTGGGGGGGGG (n.303-65_303-64insTGGGGGGGGG) c.477-65_477-64insTGGGGGGGGG (n.477-65_477-64insTGGGGGGGGG) c.414-65_414-64insTGGGGGGGGG (n.414-65_414-64insTGGGGGGGGG) n.714_715insTGGGGGGGGG c.510-65_510-64insTGGGGGGGGG (n.510-65_510-64insTGGGGGGGGG) c.600-65_600-64insTGGGGGGGGG (n.600-65_600-64insTGGGGGGGGG) c.*515-65_*515-64insTGGGGGGGGG (n.*515-65_*515-64insTGGGGGGGGG) c.*131-65_*131-64insTGGGGGGGGG (n.*131-65_*131-64insTGGGGGGGGG) c.264+45_264+46insTGGGGGGGGG (n.264+45_264+46insTGGGGGGGGG) c.534-65_534-64insTGGGGGGGGG (n.534-65_534-64insTGGGGGGGGG) c.471-65_471-64insTGGGGGGGGG (n.471-65_471-64insTGGGGGGGGG) c.540-65_540-64insTGGGGGGGGG (n.540-65_540-64insTGGGGGGGGG) | gnomAD v4 |
1 | g.6474651_6474652insCCCCCCCCCCA | CA2642979435 | PLEKHG5 | c.303-65_303-64insTGGGGGGGGGG (n.303-65_303-64insTGGGGGGGGGG) c.477-65_477-64insTGGGGGGGGGG (n.477-65_477-64insTGGGGGGGGGG) c.414-65_414-64insTGGGGGGGGGG (n.414-65_414-64insTGGGGGGGGGG) n.714_715insTGGGGGGGGGG c.510-65_510-64insTGGGGGGGGGG (n.510-65_510-64insTGGGGGGGGGG) c.600-65_600-64insTGGGGGGGGGG (n.600-65_600-64insTGGGGGGGGGG) c.*515-65_*515-64insTGGGGGGGGGG (n.*515-65_*515-64insTGGGGGGGGGG) c.*131-65_*131-64insTGGGGGGGGGG (n.*131-65_*131-64insTGGGGGGGGGG) c.264+45_264+46insTGGGGGGGGGG (n.264+45_264+46insTGGGGGGGGGG) c.534-65_534-64insTGGGGGGGGGG (n.534-65_534-64insTGGGGGGGGGG) c.471-65_471-64insTGGGGGGGGGG (n.471-65_471-64insTGGGGGGGGGG) c.540-65_540-64insTGGGGGGGGGG (n.540-65_540-64insTGGGGGGGGGG) | gnomAD v4 |
1 | g.6474652del | CA520766031 | PLEKHG5 | c.303-65del (n.303-65del) c.477-65del (n.477-65del) c.414-65del (n.414-65del) n.714del c.510-65del (n.510-65del) c.600-65del (n.600-65del) c.*515-65del (n.*515-65del) c.*131-65del (n.*131-65del) c.264+45del (n.264+45del) c.534-65del (n.534-65del) c.471-65del (n.471-65del) c.540-65del (n.540-65del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474652G>A | CA520766029 | PLEKHG5 | c.303-65C>T (n.303-65C>T) c.477-65C>T (n.477-65C>T) c.414-65C>T (n.414-65C>T) n.714C>T c.510-65C>T (n.510-65C>T) c.600-65C>T (n.600-65C>T) c.*515-65C>T (n.*515-65C>T) c.*131-65C>T (n.*131-65C>T) c.264+45C>T (n.264+45C>T) c.534-65C>T (n.534-65C>T) c.471-65C>T (n.471-65C>T) c.540-65C>T (n.540-65C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474652G>C | CA17243959 | PLEKHG5 | c.303-65C>G (n.303-65C>G) c.477-65C>G (n.477-65C>G) c.414-65C>G (n.414-65C>G) n.714C>G c.510-65C>G (n.510-65C>G) c.600-65C>G (n.600-65C>G) c.*515-65C>G (n.*515-65C>G) c.*131-65C>G (n.*131-65C>G) c.264+45C>G (n.264+45C>G) c.534-65C>G (n.534-65C>G) c.471-65C>G (n.471-65C>G) c.540-65C>G (n.540-65C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474652G= | CA1151507219 | PLEKHG5 | c.303-65C= (n.303-65C=) c.477-65C= (n.477-65C=) c.414-65C= (n.414-65C=) n.714C= c.510-65C= (n.510-65C=) c.600-65C= (n.600-65C=) c.*515-65C= (n.*515-65C=) c.*131-65C= (n.*131-65C=) c.264+45C= (n.264+45C=) c.534-65C= (n.534-65C=) c.471-65C= (n.471-65C=) c.540-65C= (n.540-65C=) | |
1 | g.6474652G>T | CA998179104 | PLEKHG5 | c.303-65C>A (n.303-65C>A) c.477-65C>A (n.477-65C>A) c.414-65C>A (n.414-65C>A) n.714C>A c.510-65C>A (n.510-65C>A) c.600-65C>A (n.600-65C>A) c.*515-65C>A (n.*515-65C>A) c.*131-65C>A (n.*131-65C>A) c.264+45C>A (n.264+45C>A) c.534-65C>A (n.534-65C>A) c.471-65C>A (n.471-65C>A) c.540-65C>A (n.540-65C>A) | gnomAD v3 gnomAD v4 |
1 | g.6474652_6474662del | CA998179099 | PLEKHG5 | c.303-75_303-65del (n.303-75_303-65del) c.477-75_477-65del (n.477-75_477-65del) c.414-75_414-65del (n.414-75_414-65del) n.704_714del c.510-75_510-65del (n.510-75_510-65del) c.600-75_600-65del (n.600-75_600-65del) c.*515-75_*515-65del (n.*515-75_*515-65del) c.*131-75_*131-65del (n.*131-75_*131-65del) c.264+35_264+45del (n.264+35_264+45del) c.534-75_534-65del (n.534-75_534-65del) c.471-75_471-65del (n.471-75_471-65del) c.540-75_540-65del (n.540-75_540-65del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474660_6474696del | CA2642979433 | PLEKHG5 | c.303-101_303-65del (n.303-101_303-65del) c.477-101_477-65del (n.477-101_477-65del) c.414-101_414-65del (n.414-101_414-65del) n.678_714del c.510-101_510-65del (n.510-101_510-65del) c.600-101_600-65del (n.600-101_600-65del) c.*515-101_*515-65del (n.*515-101_*515-65del) c.*131-101_*131-65del (n.*131-101_*131-65del) c.264+9_264+45del (n.264+9_264+45del) c.534-101_534-65del (n.534-101_534-65del) c.471-101_471-65del (n.471-101_471-65del) c.540-101_540-65del (n.540-101_540-65del) | gnomAD v4 |
1 | g.6474652_6474653insGCC | CA2742323562 | PLEKHG5 | c.303-66_303-65insGGC (n.303-66_303-65insGGC) c.477-66_477-65insGGC (n.477-66_477-65insGGC) c.414-66_414-65insGGC (n.414-66_414-65insGGC) n.713_714insGGC c.510-66_510-65insGGC (n.510-66_510-65insGGC) c.600-66_600-65insGGC (n.600-66_600-65insGGC) c.*515-66_*515-65insGGC (n.*515-66_*515-65insGGC) c.*131-66_*131-65insGGC (n.*131-66_*131-65insGGC) c.264+44_264+45insGGC (n.264+44_264+45insGGC) c.534-66_534-65insGGC (n.534-66_534-65insGGC) c.471-66_471-65insGGC (n.471-66_471-65insGGC) c.540-66_540-65insGGC (n.540-66_540-65insGGC) | |
1 | g.6474653C>T | CA2642979485 | PLEKHG5 | c.303-66G>A (n.303-66G>A) c.477-66G>A (n.477-66G>A) c.414-66G>A (n.414-66G>A) n.713G>A c.510-66G>A (n.510-66G>A) c.600-66G>A (n.600-66G>A) c.*515-66G>A (n.*515-66G>A) c.*131-66G>A (n.*131-66G>A) c.264+44G>A (n.264+44G>A) c.534-66G>A (n.534-66G>A) c.471-66G>A (n.471-66G>A) c.540-66G>A (n.540-66G>A) | gnomAD v4 |
1 | g.6474657_6474658insCCCCCCCCCCCC | CA2642979479 | PLEKHG5 | c.303-66_303-65insGGGGGGGGGGGG (n.303-66_303-65insGGGGGGGGGGGG) c.477-66_477-65insGGGGGGGGGGGG (n.477-66_477-65insGGGGGGGGGGGG) c.414-66_414-65insGGGGGGGGGGGG (n.414-66_414-65insGGGGGGGGGGGG) n.713_714insGGGGGGGGGGGG c.510-66_510-65insGGGGGGGGGGGG (n.510-66_510-65insGGGGGGGGGGGG) c.600-66_600-65insGGGGGGGGGGGG (n.600-66_600-65insGGGGGGGGGGGG) c.*515-66_*515-65insGGGGGGGGGGGG (n.*515-66_*515-65insGGGGGGGGGGGG) c.*131-66_*131-65insGGGGGGGGGGGG (n.*131-66_*131-65insGGGGGGGGGGGG) c.264+44_264+45insGGGGGGGGGGGG (n.264+44_264+45insGGGGGGGGGGGG) c.534-66_534-65insGGGGGGGGGGGG (n.534-66_534-65insGGGGGGGGGGGG) c.471-66_471-65insGGGGGGGGGGGG (n.471-66_471-65insGGGGGGGGGGGG) c.540-66_540-65insGGGGGGGGGGGG (n.540-66_540-65insGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474657_6474658insCCCAGCCCCCCCCCCCCCCCCC | CA2844646394 | PLEKHG5 | c.303-66_303-65insGGGGGGGGGGGGCTGGGGGGGG (n.303-66_303-65insGGGGGGGGGGGGCTGGGGGGGG) c.477-66_477-65insGGGGGGGGGGGGCTGGGGGGGG (n.477-66_477-65insGGGGGGGGGGGGCTGGGGGGGG) c.414-66_414-65insGGGGGGGGGGGGCTGGGGGGGG (n.414-66_414-65insGGGGGGGGGGGGCTGGGGGGGG) n.713_714insGGGGGGGGGGGGCTGGGGGGGG c.510-66_510-65insGGGGGGGGGGGGCTGGGGGGGG (n.510-66_510-65insGGGGGGGGGGGGCTGGGGGGGG) c.600-66_600-65insGGGGGGGGGGGGCTGGGGGGGG (n.600-66_600-65insGGGGGGGGGGGGCTGGGGGGGG) c.*515-66_*515-65insGGGGGGGGGGGGCTGGGGGGGG (n.*515-66_*515-65insGGGGGGGGGGGGCTGGGGGGGG) c.*131-66_*131-65insGGGGGGGGGGGGCTGGGGGGGG (n.*131-66_*131-65insGGGGGGGGGGGGCTGGGGGGGG) c.264+44_264+45insGGGGGGGGGGGGCTGGGGGGGG (n.264+44_264+45insGGGGGGGGGGGGCTGGGGGGGG) c.534-66_534-65insGGGGGGGGGGGGCTGGGGGGGG (n.534-66_534-65insGGGGGGGGGGGGCTGGGGGGGG) c.471-66_471-65insGGGGGGGGGGGGCTGGGGGGGG (n.471-66_471-65insGGGGGGGGGGGGCTGGGGGGGG) c.540-66_540-65insGGGGGGGGGGGGCTGGGGGGGG (n.540-66_540-65insGGGGGGGGGGGGCTGGGGGGGG) | |
1 | g.6474657dup | CA998179128 | PLEKHG5 | c.303-66dup (n.303-66dup) c.477-66dup (n.477-66dup) c.414-66dup (n.414-66dup) n.713dup c.510-66dup (n.510-66dup) c.600-66dup (n.600-66dup) c.*515-66dup (n.*515-66dup) c.*131-66dup (n.*131-66dup) c.264+44dup (n.264+44dup) c.534-66dup (n.534-66dup) c.471-66dup (n.471-66dup) c.540-66dup (n.540-66dup) | gnomAD v3 gnomAD v4 |
1 | g.6474655_6474657dup | CA2642979446 | PLEKHG5 | c.303-68_303-66dup (n.303-68_303-66dup) c.477-68_477-66dup (n.477-68_477-66dup) c.414-68_414-66dup (n.414-68_414-66dup) n.711_713dup c.510-68_510-66dup (n.510-68_510-66dup) c.600-68_600-66dup (n.600-68_600-66dup) c.*515-68_*515-66dup (n.*515-68_*515-66dup) c.*131-68_*131-66dup (n.*131-68_*131-66dup) c.264+42_264+44dup (n.264+42_264+44dup) c.534-68_534-66dup (n.534-68_534-66dup) c.471-68_471-66dup (n.471-68_471-66dup) c.540-68_540-66dup (n.540-68_540-66dup) | gnomAD v4 |
1 | g.6474654_6474657dup | CA2642979452 | PLEKHG5 | c.303-69_303-66dup (n.303-69_303-66dup) c.477-69_477-66dup (n.477-69_477-66dup) c.414-69_414-66dup (n.414-69_414-66dup) n.710_713dup c.510-69_510-66dup (n.510-69_510-66dup) c.600-69_600-66dup (n.600-69_600-66dup) c.*515-69_*515-66dup (n.*515-69_*515-66dup) c.*131-69_*131-66dup (n.*131-69_*131-66dup) c.264+41_264+44dup (n.264+41_264+44dup) c.534-69_534-66dup (n.534-69_534-66dup) c.471-69_471-66dup (n.471-69_471-66dup) c.540-69_540-66dup (n.540-69_540-66dup) | gnomAD v4 |
1 | g.6474657del | CA2642979480 | PLEKHG5 | c.303-66del (n.303-66del) c.477-66del (n.477-66del) c.414-66del (n.414-66del) n.713del c.510-66del (n.510-66del) c.600-66del (n.600-66del) c.*515-66del (n.*515-66del) c.*131-66del (n.*131-66del) c.264+44del (n.264+44del) c.534-66del (n.534-66del) c.471-66del (n.471-66del) c.540-66del (n.540-66del) | gnomAD v4 |
1 | g.6474659_6474660insCAGCCCCCCCCCCCCCCCCCACCCCCAC | CA2642979477 | PLEKHG5 | c.303-66_303-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.303-66_303-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.477-66_477-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.477-66_477-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.414-66_414-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.414-66_414-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) n.713_714insTGGGGGGGGGGGGGGGGGCTGGTGGGGG c.510-66_510-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.510-66_510-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.600-66_600-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.600-66_600-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.*515-66_*515-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.*515-66_*515-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.*131-66_*131-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.*131-66_*131-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.264+44_264+45insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.264+44_264+45insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.534-66_534-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.534-66_534-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.471-66_471-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.471-66_471-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.540-66_540-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.540-66_540-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) | gnomAD v4 |
1 | g.6474657_6474658insCCCACCCCCCCCCCCCCCCCCCCCCACCCC | CA2642979494 | PLEKHG5 | c.303-67_303-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.303-67_303-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.477-67_477-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.477-67_477-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.414-67_414-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.414-67_414-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) n.712_713insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG c.510-67_510-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.510-67_510-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.600-67_600-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.600-67_600-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.*515-67_*515-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.*515-67_*515-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.*131-67_*131-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.*131-67_*131-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.264+43_264+44insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.264+43_264+44insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.534-67_534-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.534-67_534-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.471-67_471-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.471-67_471-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.540-67_540-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.540-67_540-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) | gnomAD v4 |
1 | g.6474657_6474658insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACCCC | CA2642979495 | PLEKHG5 | c.303-67_303-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-67_303-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-67_477-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-67_477-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-67_414-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-67_414-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.712_713insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-67_510-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-67_510-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-67_600-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-67_600-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-67_*515-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-67_*515-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-67_*131-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-67_*131-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+43_264+44insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+43_264+44insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-67_534-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-67_534-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-67_471-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-67_471-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-67_540-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-67_540-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474655C>A | CA2574193695 | PLEKHG5 | c.303-68G>T (n.303-68G>T) c.477-68G>T (n.477-68G>T) c.414-68G>T (n.414-68G>T) n.711G>T c.510-68G>T (n.510-68G>T) c.600-68G>T (n.600-68G>T) c.*515-68G>T (n.*515-68G>T) c.*131-68G>T (n.*131-68G>T) c.264+42G>T (n.264+42G>T) c.534-68G>T (n.534-68G>T) c.471-68G>T (n.471-68G>T) c.540-68G>T (n.540-68G>T) | |
1 | g.6474655C>T | CA2642979499 | PLEKHG5 | c.303-68G>A (n.303-68G>A) c.477-68G>A (n.477-68G>A) c.414-68G>A (n.414-68G>A) n.711G>A c.510-68G>A (n.510-68G>A) c.600-68G>A (n.600-68G>A) c.*515-68G>A (n.*515-68G>A) c.*131-68G>A (n.*131-68G>A) c.264+42G>A (n.264+42G>A) c.534-68G>A (n.534-68G>A) c.471-68G>A (n.471-68G>A) c.540-68G>A (n.540-68G>A) | gnomAD v4 |
1 | g.6474656C>A | CA2559684544 | PLEKHG5 | c.303-69G>T (n.303-69G>T) c.477-69G>T (n.477-69G>T) c.414-69G>T (n.414-69G>T) n.710G>T c.510-69G>T (n.510-69G>T) c.600-69G>T (n.600-69G>T) c.*515-69G>T (n.*515-69G>T) c.*131-69G>T (n.*131-69G>T) c.264+41G>T (n.264+41G>T) c.534-69G>T (n.534-69G>T) c.471-69G>T (n.471-69G>T) c.540-69G>T (n.540-69G>T) | |
1 | g.6474656C= | CA1151507244 | PLEKHG5 | c.303-69G= (n.303-69G=) c.477-69G= (n.477-69G=) c.414-69G= (n.414-69G=) n.710G= c.510-69G= (n.510-69G=) c.600-69G= (n.600-69G=) c.*515-69G= (n.*515-69G=) c.*131-69G= (n.*131-69G=) c.264+41G= (n.264+41G=) c.534-69G= (n.534-69G=) c.471-69G= (n.471-69G=) c.540-69G= (n.540-69G=) | |
1 | g.6474656C>G | CA998179132 | PLEKHG5 | c.303-69G>C (n.303-69G>C) c.477-69G>C (n.477-69G>C) c.414-69G>C (n.414-69G>C) n.710G>C c.510-69G>C (n.510-69G>C) c.600-69G>C (n.600-69G>C) c.*515-69G>C (n.*515-69G>C) c.*131-69G>C (n.*131-69G>C) c.264+41G>C (n.264+41G>C) c.534-69G>C (n.534-69G>C) c.471-69G>C (n.471-69G>C) c.540-69G>C (n.540-69G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474658_6474664del | CA2642979504 | PLEKHG5 | c.303-75_303-69del (n.303-75_303-69del) c.477-75_477-69del (n.477-75_477-69del) c.414-75_414-69del (n.414-75_414-69del) n.704_710del c.510-75_510-69del (n.510-75_510-69del) c.600-75_600-69del (n.600-75_600-69del) c.*515-75_*515-69del (n.*515-75_*515-69del) c.*131-75_*131-69del (n.*131-75_*131-69del) c.264+35_264+41del (n.264+35_264+41del) c.534-75_534-69del (n.534-75_534-69del) c.471-75_471-69del (n.471-75_471-69del) c.540-75_540-69del (n.540-75_540-69del) | gnomAD v4 |
1 | g.6474657C>A | CA2574193699 | PLEKHG5 | c.303-70G>T (n.303-70G>T) c.477-70G>T (n.477-70G>T) c.414-70G>T (n.414-70G>T) n.709G>T c.510-70G>T (n.510-70G>T) c.600-70G>T (n.600-70G>T) c.*515-70G>T (n.*515-70G>T) c.*131-70G>T (n.*131-70G>T) c.264+40G>T (n.264+40G>T) c.534-70G>T (n.534-70G>T) c.471-70G>T (n.471-70G>T) c.540-70G>T (n.540-70G>T) | gnomAD v4 |
1 | g.6474657C= | CA1151507251 | PLEKHG5 | c.303-70G= (n.303-70G=) c.477-70G= (n.477-70G=) c.414-70G= (n.414-70G=) n.709G= c.510-70G= (n.510-70G=) c.600-70G= (n.600-70G=) c.*515-70G= (n.*515-70G=) c.*131-70G= (n.*131-70G=) c.264+40G= (n.264+40G=) c.534-70G= (n.534-70G=) c.471-70G= (n.471-70G=) c.540-70G= (n.540-70G=) | |
1 | g.6474657C>G | CA2642979513 | PLEKHG5 | c.303-70G>C (n.303-70G>C) c.477-70G>C (n.477-70G>C) c.414-70G>C (n.414-70G>C) n.709G>C c.510-70G>C (n.510-70G>C) c.600-70G>C (n.600-70G>C) c.*515-70G>C (n.*515-70G>C) c.*131-70G>C (n.*131-70G>C) c.264+40G>C (n.264+40G>C) c.534-70G>C (n.534-70G>C) c.471-70G>C (n.471-70G>C) c.540-70G>C (n.540-70G>C) | gnomAD v4 |
1 | g.6474657C>T | CA1151507252 | PLEKHG5 | c.303-70G>A (n.303-70G>A) c.477-70G>A (n.477-70G>A) c.414-70G>A (n.414-70G>A) n.709G>A c.510-70G>A (n.510-70G>A) c.600-70G>A (n.600-70G>A) c.*515-70G>A (n.*515-70G>A) c.*131-70G>A (n.*131-70G>A) c.264+40G>A (n.264+40G>A) c.534-70G>A (n.534-70G>A) c.471-70G>A (n.471-70G>A) c.540-70G>A (n.540-70G>A) | dbSNP |
1 | g.6474657_6474662delinsCACGAG | CA1151507249 | PLEKHG5 | c.303-75_303-70delinsCTCGTG (n.303-75_303-70delinsCTCGTG) c.477-75_477-70delinsCTCGTG (n.477-75_477-70delinsCTCGTG) c.414-75_414-70delinsCTCGTG (n.414-75_414-70delinsCTCGTG) n.704_709delinsCTCGTG c.510-75_510-70delinsCTCGTG (n.510-75_510-70delinsCTCGTG) c.600-75_600-70delinsCTCGTG (n.600-75_600-70delinsCTCGTG) c.*515-75_*515-70delinsCTCGTG (n.*515-75_*515-70delinsCTCGTG) c.*131-75_*131-70delinsCTCGTG (n.*131-75_*131-70delinsCTCGTG) c.264+35_264+40delinsCTCGTG (n.264+35_264+40delinsCTCGTG) c.534-75_534-70delinsCTCGTG (n.534-75_534-70delinsCTCGTG) c.471-75_471-70delinsCTCGTG (n.471-75_471-70delinsCTCGTG) c.540-75_540-70delinsCTCGTG (n.540-75_540-70delinsCTCGTG) | |
1 | g.6474658_6474663del | CA998179146 | PLEKHG5 | c.303-75_303-70del (n.303-75_303-70del) c.477-75_477-70del (n.477-75_477-70del) c.414-75_414-70del (n.414-75_414-70del) n.704_709del c.510-75_510-70del (n.510-75_510-70del) c.600-75_600-70del (n.600-75_600-70del) c.*515-75_*515-70del (n.*515-75_*515-70del) c.*131-75_*131-70del (n.*131-75_*131-70del) c.264+35_264+40del (n.264+35_264+40del) c.534-75_534-70del (n.534-75_534-70del) c.471-75_471-70del (n.471-75_471-70del) c.540-75_540-70del (n.540-75_540-70del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474657_6474658insCCCA | CA998179148 | PLEKHG5 | c.303-71_303-70insTGGG (n.303-71_303-70insTGGG) c.477-71_477-70insTGGG (n.477-71_477-70insTGGG) c.414-71_414-70insTGGG (n.414-71_414-70insTGGG) n.708_709insTGGG c.510-71_510-70insTGGG (n.510-71_510-70insTGGG) c.600-71_600-70insTGGG (n.600-71_600-70insTGGG) c.*515-71_*515-70insTGGG (n.*515-71_*515-70insTGGG) c.*131-71_*131-70insTGGG (n.*131-71_*131-70insTGGG) c.264+39_264+40insTGGG (n.264+39_264+40insTGGG) c.534-71_534-70insTGGG (n.534-71_534-70insTGGG) c.471-71_471-70insTGGG (n.471-71_471-70insTGGG) c.540-71_540-70insTGGG (n.540-71_540-70insTGGG) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474657_6474658insCCCCACCCCCCCCCCCCCCCCCA | CA2642979528 | PLEKHG5 | c.303-71_303-70insTGGGGGGGGGGGGGGGGGTGGGG (n.303-71_303-70insTGGGGGGGGGGGGGGGGGTGGGG) c.477-71_477-70insTGGGGGGGGGGGGGGGGGTGGGG (n.477-71_477-70insTGGGGGGGGGGGGGGGGGTGGGG) c.414-71_414-70insTGGGGGGGGGGGGGGGGGTGGGG (n.414-71_414-70insTGGGGGGGGGGGGGGGGGTGGGG) n.708_709insTGGGGGGGGGGGGGGGGGTGGGG c.510-71_510-70insTGGGGGGGGGGGGGGGGGTGGGG (n.510-71_510-70insTGGGGGGGGGGGGGGGGGTGGGG) c.600-71_600-70insTGGGGGGGGGGGGGGGGGTGGGG (n.600-71_600-70insTGGGGGGGGGGGGGGGGGTGGGG) c.*515-71_*515-70insTGGGGGGGGGGGGGGGGGTGGGG (n.*515-71_*515-70insTGGGGGGGGGGGGGGGGGTGGGG) c.*131-71_*131-70insTGGGGGGGGGGGGGGGGGTGGGG (n.*131-71_*131-70insTGGGGGGGGGGGGGGGGGTGGGG) c.264+39_264+40insTGGGGGGGGGGGGGGGGGTGGGG (n.264+39_264+40insTGGGGGGGGGGGGGGGGGTGGGG) c.534-71_534-70insTGGGGGGGGGGGGGGGGGTGGGG (n.534-71_534-70insTGGGGGGGGGGGGGGGGGTGGGG) c.471-71_471-70insTGGGGGGGGGGGGGGGGGTGGGG (n.471-71_471-70insTGGGGGGGGGGGGGGGGGTGGGG) c.540-71_540-70insTGGGGGGGGGGGGGGGGGTGGGG (n.540-71_540-70insTGGGGGGGGGGGGGGGGGTGGGG) | gnomAD v4 |
1 | g.6474658A= | CA1151507262 | PLEKHG5 | c.303-71T= (n.303-71T=) c.477-71T= (n.477-71T=) c.414-71T= (n.414-71T=) n.708T= c.510-71T= (n.510-71T=) c.600-71T= (n.600-71T=) c.*515-71T= (n.*515-71T=) c.*131-71T= (n.*131-71T=) c.264+39T= (n.264+39T=) c.534-71T= (n.534-71T=) c.471-71T= (n.471-71T=) c.540-71T= (n.540-71T=) | |
1 | g.6474658A>C | CA17243966 | PLEKHG5 | c.303-71T>G (n.303-71T>G) c.477-71T>G (n.477-71T>G) c.414-71T>G (n.414-71T>G) n.708T>G c.510-71T>G (n.510-71T>G) c.600-71T>G (n.600-71T>G) c.*515-71T>G (n.*515-71T>G) c.*131-71T>G (n.*131-71T>G) c.264+39T>G (n.264+39T>G) c.534-71T>G (n.534-71T>G) c.471-71T>G (n.471-71T>G) c.540-71T>G (n.540-71T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474658A>G | CA1151507265 | PLEKHG5 | c.303-71T>C (n.303-71T>C) c.477-71T>C (n.477-71T>C) c.414-71T>C (n.414-71T>C) n.708T>C c.510-71T>C (n.510-71T>C) c.600-71T>C (n.600-71T>C) c.*515-71T>C (n.*515-71T>C) c.*131-71T>C (n.*131-71T>C) c.264+39T>C (n.264+39T>C) c.534-71T>C (n.534-71T>C) c.471-71T>C (n.471-71T>C) c.540-71T>C (n.540-71T>C) | dbSNP |
1 | g.6474658_6474662del | CA520766032 | PLEKHG5 | c.303-75_303-71del (n.303-75_303-71del) c.477-75_477-71del (n.477-75_477-71del) c.414-75_414-71del (n.414-75_414-71del) n.704_708del c.510-75_510-71del (n.510-75_510-71del) c.600-75_600-71del (n.600-75_600-71del) c.*515-75_*515-71del (n.*515-75_*515-71del) c.*131-75_*131-71del (n.*131-75_*131-71del) c.264+35_264+39del (n.264+35_264+39del) c.534-75_534-71del (n.534-75_534-71del) c.471-75_471-71del (n.471-75_471-71del) c.540-75_540-71del (n.540-75_540-71del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474658_6474668del | CA998179153 | PLEKHG5 | c.303-81_303-71del (n.303-81_303-71del) c.477-81_477-71del (n.477-81_477-71del) c.414-81_414-71del (n.414-81_414-71del) n.698_708del c.510-81_510-71del (n.510-81_510-71del) c.600-81_600-71del (n.600-81_600-71del) c.*515-81_*515-71del (n.*515-81_*515-71del) c.*131-81_*131-71del (n.*131-81_*131-71del) c.264+29_264+39del (n.264+29_264+39del) c.534-81_534-71del (n.534-81_534-71del) c.471-81_471-71del (n.471-81_471-71del) c.540-81_540-71del (n.540-81_540-71del) | gnomAD v3 gnomAD v4 |
1 | g.6474658_6474659insGCCCCCCCCCCCCCCC | CA2642979549 | PLEKHG5 | c.303-72_303-71insGGGGGGGGGGGGGGGC (n.303-72_303-71insGGGGGGGGGGGGGGGC) c.477-72_477-71insGGGGGGGGGGGGGGGC (n.477-72_477-71insGGGGGGGGGGGGGGGC) c.414-72_414-71insGGGGGGGGGGGGGGGC (n.414-72_414-71insGGGGGGGGGGGGGGGC) n.707_708insGGGGGGGGGGGGGGGC c.510-72_510-71insGGGGGGGGGGGGGGGC (n.510-72_510-71insGGGGGGGGGGGGGGGC) c.600-72_600-71insGGGGGGGGGGGGGGGC (n.600-72_600-71insGGGGGGGGGGGGGGGC) c.*515-72_*515-71insGGGGGGGGGGGGGGGC (n.*515-72_*515-71insGGGGGGGGGGGGGGGC) c.*131-72_*131-71insGGGGGGGGGGGGGGGC (n.*131-72_*131-71insGGGGGGGGGGGGGGGC) c.264+38_264+39insGGGGGGGGGGGGGGGC (n.264+38_264+39insGGGGGGGGGGGGGGGC) c.534-72_534-71insGGGGGGGGGGGGGGGC (n.534-72_534-71insGGGGGGGGGGGGGGGC) c.471-72_471-71insGGGGGGGGGGGGGGGC (n.471-72_471-71insGGGGGGGGGGGGGGGC) c.540-72_540-71insGGGGGGGGGGGGGGGC (n.540-72_540-71insGGGGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474659C>A | CA2642979546 | PLEKHG5 | c.303-72G>T (n.303-72G>T) c.477-72G>T (n.477-72G>T) c.414-72G>T (n.414-72G>T) n.707G>T c.510-72G>T (n.510-72G>T) c.600-72G>T (n.600-72G>T) c.*515-72G>T (n.*515-72G>T) c.*131-72G>T (n.*131-72G>T) c.264+38G>T (n.264+38G>T) c.534-72G>T (n.534-72G>T) c.471-72G>T (n.471-72G>T) c.540-72G>T (n.540-72G>T) | gnomAD v4 |
1 | g.6474659C= | CA1151507275 | PLEKHG5 | c.303-72G= (n.303-72G=) c.477-72G= (n.477-72G=) c.414-72G= (n.414-72G=) n.707G= c.510-72G= (n.510-72G=) c.600-72G= (n.600-72G=) c.*515-72G= (n.*515-72G=) c.*131-72G= (n.*131-72G=) c.264+38G= (n.264+38G=) c.534-72G= (n.534-72G=) c.471-72G= (n.471-72G=) c.540-72G= (n.540-72G=) | |
1 | g.6474659C>G | CA998179162 | PLEKHG5 | c.303-72G>C (n.303-72G>C) c.477-72G>C (n.477-72G>C) c.414-72G>C (n.414-72G>C) n.707G>C c.510-72G>C (n.510-72G>C) c.600-72G>C (n.600-72G>C) c.*515-72G>C (n.*515-72G>C) c.*131-72G>C (n.*131-72G>C) c.264+38G>C (n.264+38G>C) c.534-72G>C (n.534-72G>C) c.471-72G>C (n.471-72G>C) c.540-72G>C (n.540-72G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474659C>T | CA17243970 | PLEKHG5 | c.303-72G>A (n.303-72G>A) c.477-72G>A (n.477-72G>A) c.414-72G>A (n.414-72G>A) n.707G>A c.510-72G>A (n.510-72G>A) c.600-72G>A (n.600-72G>A) c.*515-72G>A (n.*515-72G>A) c.*131-72G>A (n.*131-72G>A) c.264+38G>A (n.264+38G>A) c.534-72G>A (n.534-72G>A) c.471-72G>A (n.471-72G>A) c.540-72G>A (n.540-72G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474659_6474660insCCCCCCCCCCCCCCCCACCCCCCC | CA2642979552 | PLEKHG5 | c.303-72_303-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.303-72_303-71insGGGGGGTGGGGGGGGGGGGGGGGG) c.477-72_477-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.477-72_477-71insGGGGGGTGGGGGGGGGGGGGGGGG) c.414-72_414-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.414-72_414-71insGGGGGGTGGGGGGGGGGGGGGGGG) n.707_708insGGGGGGTGGGGGGGGGGGGGGGGG c.510-72_510-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.510-72_510-71insGGGGGGTGGGGGGGGGGGGGGGGG) c.600-72_600-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.600-72_600-71insGGGGGGTGGGGGGGGGGGGGGGGG) c.*515-72_*515-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.*515-72_*515-71insGGGGGGTGGGGGGGGGGGGGGGGG) c.*131-72_*131-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.*131-72_*131-71insGGGGGGTGGGGGGGGGGGGGGGGG) c.264+38_264+39insGGGGGGTGGGGGGGGGGGGGGGGG (n.264+38_264+39insGGGGGGTGGGGGGGGGGGGGGGGG) c.534-72_534-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.534-72_534-71insGGGGGGTGGGGGGGGGGGGGGGGG) c.471-72_471-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.471-72_471-71insGGGGGGTGGGGGGGGGGGGGGGGG) c.540-72_540-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.540-72_540-71insGGGGGGTGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474659_6474660insCCCCCCCCCCCCCCCCCCCCCCCCC | CA2742323563 | PLEKHG5 | c.303-72_303-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-72_303-71insGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-72_477-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-72_477-71insGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-72_414-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-72_414-71insGGGGGGGGGGGGGGGGGGGGGGGGG) n.707_708insGGGGGGGGGGGGGGGGGGGGGGGGG c.510-72_510-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-72_510-71insGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-72_600-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-72_600-71insGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-72_*515-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-72_*515-71insGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-72_*131-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-72_*131-71insGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+38_264+39insGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+38_264+39insGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-72_534-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-72_534-71insGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-72_471-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-72_471-71insGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-72_540-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-72_540-71insGGGGGGGGGGGGGGGGGGGGGGGGG) | |
1 | g.6474659_6474660insCCCCCCCCCCCCCCCCCCCCCCCCCCACCCCCCC | CA2642979543 | PLEKHG5 | c.303-72_303-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-72_303-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-72_477-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-72_477-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-72_414-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-72_414-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.707_708insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-72_510-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-72_510-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-72_600-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-72_600-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-72_*515-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-72_*515-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-72_*131-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-72_*131-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+38_264+39insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+38_264+39insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-72_534-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-72_534-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-72_471-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-72_471-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-72_540-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-72_540-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474659_6474660del | CA998179161 | PLEKHG5 | c.303-73_303-72del (n.303-73_303-72del) c.477-73_477-72del (n.477-73_477-72del) c.414-73_414-72del (n.414-73_414-72del) n.706_707del c.510-73_510-72del (n.510-73_510-72del) c.600-73_600-72del (n.600-73_600-72del) c.*515-73_*515-72del (n.*515-73_*515-72del) c.*131-73_*131-72del (n.*131-73_*131-72del) c.264+37_264+38del (n.264+37_264+38del) c.534-73_534-72del (n.534-73_534-72del) c.471-73_471-72del (n.471-73_471-72del) c.540-73_540-72del (n.540-73_540-72del) | gnomAD v3 gnomAD v4 |
1 | g.6474659_6474660delinsCG | CA1151507271 | PLEKHG5 | c.303-73_303-72delinsCG (n.303-73_303-72delinsCG) c.477-73_477-72delinsCG (n.477-73_477-72delinsCG) c.414-73_414-72delinsCG (n.414-73_414-72delinsCG) n.706_707delinsCG c.510-73_510-72delinsCG (n.510-73_510-72delinsCG) c.600-73_600-72delinsCG (n.600-73_600-72delinsCG) c.*515-73_*515-72delinsCG (n.*515-73_*515-72delinsCG) c.*131-73_*131-72delinsCG (n.*131-73_*131-72delinsCG) c.264+37_264+38delinsCG (n.264+37_264+38delinsCG) c.534-73_534-72delinsCG (n.534-73_534-72delinsCG) c.471-73_471-72delinsCG (n.471-73_471-72delinsCG) c.540-73_540-72delinsCG (n.540-73_540-72delinsCG) | |
1 | g.6474659_6474661delinsCGA | CA1151507269 | PLEKHG5 | c.303-74_303-72delinsTCG (n.303-74_303-72delinsTCG) c.477-74_477-72delinsTCG (n.477-74_477-72delinsTCG) c.414-74_414-72delinsTCG (n.414-74_414-72delinsTCG) n.705_707delinsTCG c.510-74_510-72delinsTCG (n.510-74_510-72delinsTCG) c.600-74_600-72delinsTCG (n.600-74_600-72delinsTCG) c.*515-74_*515-72delinsTCG (n.*515-74_*515-72delinsTCG) c.*131-74_*131-72delinsTCG (n.*131-74_*131-72delinsTCG) c.264+36_264+38delinsTCG (n.264+36_264+38delinsTCG) c.534-74_534-72delinsTCG (n.534-74_534-72delinsTCG) c.471-74_471-72delinsTCG (n.471-74_471-72delinsTCG) c.540-74_540-72delinsTCG (n.540-74_540-72delinsTCG) | |
1 | g.6474659_6474662delinsCGAG | CA1151507268 | PLEKHG5 | c.303-75_303-72delinsCTCG (n.303-75_303-72delinsCTCG) c.477-75_477-72delinsCTCG (n.477-75_477-72delinsCTCG) c.414-75_414-72delinsCTCG (n.414-75_414-72delinsCTCG) n.704_707delinsCTCG c.510-75_510-72delinsCTCG (n.510-75_510-72delinsCTCG) c.600-75_600-72delinsCTCG (n.600-75_600-72delinsCTCG) c.*515-75_*515-72delinsCTCG (n.*515-75_*515-72delinsCTCG) c.*131-75_*131-72delinsCTCG (n.*131-75_*131-72delinsCTCG) c.264+35_264+38delinsCTCG (n.264+35_264+38delinsCTCG) c.534-75_534-72delinsCTCG (n.534-75_534-72delinsCTCG) c.471-75_471-72delinsCTCG (n.471-75_471-72delinsCTCG) c.540-75_540-72delinsCTCG (n.540-75_540-72delinsCTCG) | |
1 | g.6474660del | CA998179166 | PLEKHG5 | c.303-73del (n.303-73del) c.477-73del (n.477-73del) c.414-73del (n.414-73del) n.706del c.510-73del (n.510-73del) c.600-73del (n.600-73del) c.*515-73del (n.*515-73del) c.*131-73del (n.*131-73del) c.264+37del (n.264+37del) c.534-73del (n.534-73del) c.471-73del (n.471-73del) c.540-73del (n.540-73del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474660G>A | CA998179173 | PLEKHG5 | c.303-73C>T (n.303-73C>T) c.477-73C>T (n.477-73C>T) c.414-73C>T (n.414-73C>T) n.706C>T c.510-73C>T (n.510-73C>T) c.600-73C>T (n.600-73C>T) c.*515-73C>T (n.*515-73C>T) c.*131-73C>T (n.*131-73C>T) c.264+37C>T (n.264+37C>T) c.534-73C>T (n.534-73C>T) c.471-73C>T (n.471-73C>T) c.540-73C>T (n.540-73C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474660G>C | CA17243974 | PLEKHG5 | c.303-73C>G (n.303-73C>G) c.477-73C>G (n.477-73C>G) c.414-73C>G (n.414-73C>G) n.706C>G c.510-73C>G (n.510-73C>G) c.600-73C>G (n.600-73C>G) c.*515-73C>G (n.*515-73C>G) c.*131-73C>G (n.*131-73C>G) c.264+37C>G (n.264+37C>G) c.534-73C>G (n.534-73C>G) c.471-73C>G (n.471-73C>G) c.540-73C>G (n.540-73C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474660G= | CA1151507287 | PLEKHG5 | c.303-73C= (n.303-73C=) c.477-73C= (n.477-73C=) c.414-73C= (n.414-73C=) n.706C= c.510-73C= (n.510-73C=) c.600-73C= (n.600-73C=) c.*515-73C= (n.*515-73C=) c.*131-73C= (n.*131-73C=) c.264+37C= (n.264+37C=) c.534-73C= (n.534-73C=) c.471-73C= (n.471-73C=) c.540-73C= (n.540-73C=) | |
1 | g.6474660G>T | CA2642979563 | PLEKHG5 | c.303-73C>A (n.303-73C>A) c.477-73C>A (n.477-73C>A) c.414-73C>A (n.414-73C>A) n.706C>A c.510-73C>A (n.510-73C>A) c.600-73C>A (n.600-73C>A) c.*515-73C>A (n.*515-73C>A) c.*131-73C>A (n.*131-73C>A) c.264+37C>A (n.264+37C>A) c.534-73C>A (n.534-73C>A) c.471-73C>A (n.471-73C>A) c.540-73C>A (n.540-73C>A) | gnomAD v4 |
1 | g.6474660_6474662del | CA520766033 | PLEKHG5 | c.303-75_303-73del (n.303-75_303-73del) c.477-75_477-73del (n.477-75_477-73del) c.414-75_414-73del (n.414-75_414-73del) n.704_706del c.510-75_510-73del (n.510-75_510-73del) c.600-75_600-73del (n.600-75_600-73del) c.*515-75_*515-73del (n.*515-75_*515-73del) c.*131-75_*131-73del (n.*131-75_*131-73del) c.264+35_264+37del (n.264+35_264+37del) c.534-75_534-73del (n.534-75_534-73del) c.471-75_471-73del (n.471-75_471-73del) c.540-75_540-73del (n.540-75_540-73del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474661_6474662del | CA1151507281 | PLEKHG5 | c.303-74_303-73del (n.303-74_303-73del) c.477-74_477-73del (n.477-74_477-73del) c.414-74_414-73del (n.414-74_414-73del) n.705_706del c.510-74_510-73del (n.510-74_510-73del) c.600-74_600-73del (n.600-74_600-73del) c.*515-74_*515-73del (n.*515-74_*515-73del) c.*131-74_*131-73del (n.*131-74_*131-73del) c.264+36_264+37del (n.264+36_264+37del) c.534-74_534-73del (n.534-74_534-73del) c.471-74_471-73del (n.471-74_471-73del) c.540-74_540-73del (n.540-74_540-73del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474660_6474661insCCCCCCCCCCCCCCCC | CA2642979573 | PLEKHG5 | c.303-74_303-73insGGGGGGGGGGGGGGGG (n.303-74_303-73insGGGGGGGGGGGGGGGG) c.477-74_477-73insGGGGGGGGGGGGGGGG (n.477-74_477-73insGGGGGGGGGGGGGGGG) c.414-74_414-73insGGGGGGGGGGGGGGGG (n.414-74_414-73insGGGGGGGGGGGGGGGG) n.705_706insGGGGGGGGGGGGGGGG c.510-74_510-73insGGGGGGGGGGGGGGGG (n.510-74_510-73insGGGGGGGGGGGGGGGG) c.600-74_600-73insGGGGGGGGGGGGGGGG (n.600-74_600-73insGGGGGGGGGGGGGGGG) c.*515-74_*515-73insGGGGGGGGGGGGGGGG (n.*515-74_*515-73insGGGGGGGGGGGGGGGG) c.*131-74_*131-73insGGGGGGGGGGGGGGGG (n.*131-74_*131-73insGGGGGGGGGGGGGGGG) c.264+36_264+37insGGGGGGGGGGGGGGGG (n.264+36_264+37insGGGGGGGGGGGGGGGG) c.534-74_534-73insGGGGGGGGGGGGGGGG (n.534-74_534-73insGGGGGGGGGGGGGGGG) c.471-74_471-73insGGGGGGGGGGGGGGGG (n.471-74_471-73insGGGGGGGGGGGGGGGG) c.540-74_540-73insGGGGGGGGGGGGGGGG (n.540-74_540-73insGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474661del | CA2642979576 | PLEKHG5 | c.303-74del (n.303-74del) c.477-74del (n.477-74del) c.414-74del (n.414-74del) n.705del c.510-74del (n.510-74del) c.600-74del (n.600-74del) c.*515-74del (n.*515-74del) c.*131-74del (n.*131-74del) c.264+36del (n.264+36del) c.534-74del (n.534-74del) c.471-74del (n.471-74del) c.540-74del (n.540-74del) | gnomAD v4 |
1 | g.6474661A= | CA1151507291 | PLEKHG5 | c.303-74T= (n.303-74T=) c.477-74T= (n.477-74T=) c.414-74T= (n.414-74T=) n.705T= c.510-74T= (n.510-74T=) c.600-74T= (n.600-74T=) c.*515-74T= (n.*515-74T=) c.*131-74T= (n.*131-74T=) c.264+36T= (n.264+36T=) c.534-74T= (n.534-74T=) c.471-74T= (n.471-74T=) c.540-74T= (n.540-74T=) | |
1 | g.6474661A>C | CA998179175 | PLEKHG5 | c.303-74T>G (n.303-74T>G) c.477-74T>G (n.477-74T>G) c.414-74T>G (n.414-74T>G) n.705T>G c.510-74T>G (n.510-74T>G) c.600-74T>G (n.600-74T>G) c.*515-74T>G (n.*515-74T>G) c.*131-74T>G (n.*131-74T>G) c.264+36T>G (n.264+36T>G) c.534-74T>G (n.534-74T>G) c.471-74T>G (n.471-74T>G) c.540-74T>G (n.540-74T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474661A>G | CA2642979582 | PLEKHG5 | c.303-74T>C (n.303-74T>C) c.477-74T>C (n.477-74T>C) c.414-74T>C (n.414-74T>C) n.705T>C c.510-74T>C (n.510-74T>C) c.600-74T>C (n.600-74T>C) c.*515-74T>C (n.*515-74T>C) c.*131-74T>C (n.*131-74T>C) c.264+36T>C (n.264+36T>C) c.534-74T>C (n.534-74T>C) c.471-74T>C (n.471-74T>C) c.540-74T>C (n.540-74T>C) | gnomAD v4 |
1 | g.6474661A>T | CA2642979581 | PLEKHG5 | c.303-74T>A (n.303-74T>A) c.477-74T>A (n.477-74T>A) c.414-74T>A (n.414-74T>A) n.705T>A c.510-74T>A (n.510-74T>A) c.600-74T>A (n.600-74T>A) c.*515-74T>A (n.*515-74T>A) c.*131-74T>A (n.*131-74T>A) c.264+36T>A (n.264+36T>A) c.534-74T>A (n.534-74T>A) c.471-74T>A (n.471-74T>A) c.540-74T>A (n.540-74T>A) | gnomAD v4 |
1 | g.6474661_6474662insACC | CA998179178 | PLEKHG5 | c.303-75_303-74insGGT (n.303-75_303-74insGGT) c.477-75_477-74insGGT (n.477-75_477-74insGGT) c.414-75_414-74insGGT (n.414-75_414-74insGGT) n.704_705insGGT c.510-75_510-74insGGT (n.510-75_510-74insGGT) c.600-75_600-74insGGT (n.600-75_600-74insGGT) c.*515-75_*515-74insGGT (n.*515-75_*515-74insGGT) c.*131-75_*131-74insGGT (n.*131-75_*131-74insGGT) c.264+35_264+36insGGT (n.264+35_264+36insGGT) c.534-75_534-74insGGT (n.534-75_534-74insGGT) c.471-75_471-74insGGT (n.471-75_471-74insGGT) c.540-75_540-74insGGT (n.540-75_540-74insGGT) | gnomAD v3 gnomAD v4 |
1 | g.6474661_6474662insACCCCC | CA2642979613 | PLEKHG5 | c.303-75_303-74insGGGGGT (n.303-75_303-74insGGGGGT) c.477-75_477-74insGGGGGT (n.477-75_477-74insGGGGGT) c.414-75_414-74insGGGGGT (n.414-75_414-74insGGGGGT) n.704_705insGGGGGT c.510-75_510-74insGGGGGT (n.510-75_510-74insGGGGGT) c.600-75_600-74insGGGGGT (n.600-75_600-74insGGGGGT) c.*515-75_*515-74insGGGGGT (n.*515-75_*515-74insGGGGGT) c.*131-75_*131-74insGGGGGT (n.*131-75_*131-74insGGGGGT) c.264+35_264+36insGGGGGT (n.264+35_264+36insGGGGGT) c.534-75_534-74insGGGGGT (n.534-75_534-74insGGGGGT) c.471-75_471-74insGGGGGT (n.471-75_471-74insGGGGGT) c.540-75_540-74insGGGGGT (n.540-75_540-74insGGGGGT) | gnomAD v4 |
1 | g.6474661_6474662insCCCCCCC | CA2642979607 | PLEKHG5 | c.303-75_303-74insGGGGGGG (n.303-75_303-74insGGGGGGG) c.477-75_477-74insGGGGGGG (n.477-75_477-74insGGGGGGG) c.414-75_414-74insGGGGGGG (n.414-75_414-74insGGGGGGG) n.704_705insGGGGGGG c.510-75_510-74insGGGGGGG (n.510-75_510-74insGGGGGGG) c.600-75_600-74insGGGGGGG (n.600-75_600-74insGGGGGGG) c.*515-75_*515-74insGGGGGGG (n.*515-75_*515-74insGGGGGGG) c.*131-75_*131-74insGGGGGGG (n.*131-75_*131-74insGGGGGGG) c.264+35_264+36insGGGGGGG (n.264+35_264+36insGGGGGGG) c.534-75_534-74insGGGGGGG (n.534-75_534-74insGGGGGGG) c.471-75_471-74insGGGGGGG (n.471-75_471-74insGGGGGGG) c.540-75_540-74insGGGGGGG (n.540-75_540-74insGGGGGGG) | gnomAD v4 |
1 | g.6474661_6474662insCCCCCCCC | CA2642979606 | PLEKHG5 | c.303-75_303-74insGGGGGGGG (n.303-75_303-74insGGGGGGGG) c.477-75_477-74insGGGGGGGG (n.477-75_477-74insGGGGGGGG) c.414-75_414-74insGGGGGGGG (n.414-75_414-74insGGGGGGGG) n.704_705insGGGGGGGG c.510-75_510-74insGGGGGGGG (n.510-75_510-74insGGGGGGGG) c.600-75_600-74insGGGGGGGG (n.600-75_600-74insGGGGGGGG) c.*515-75_*515-74insGGGGGGGG (n.*515-75_*515-74insGGGGGGGG) c.*131-75_*131-74insGGGGGGGG (n.*131-75_*131-74insGGGGGGGG) c.264+35_264+36insGGGGGGGG (n.264+35_264+36insGGGGGGGG) c.534-75_534-74insGGGGGGGG (n.534-75_534-74insGGGGGGGG) c.471-75_471-74insGGGGGGGG (n.471-75_471-74insGGGGGGGG) c.540-75_540-74insGGGGGGGG (n.540-75_540-74insGGGGGGGG) | gnomAD v4 |
1 | g.6474661_6474662insACCCCCCCCC | CA2642979609 | PLEKHG5 | c.303-75_303-74insGGGGGGGGGT (n.303-75_303-74insGGGGGGGGGT) c.477-75_477-74insGGGGGGGGGT (n.477-75_477-74insGGGGGGGGGT) c.414-75_414-74insGGGGGGGGGT (n.414-75_414-74insGGGGGGGGGT) n.704_705insGGGGGGGGGT c.510-75_510-74insGGGGGGGGGT (n.510-75_510-74insGGGGGGGGGT) c.600-75_600-74insGGGGGGGGGT (n.600-75_600-74insGGGGGGGGGT) c.*515-75_*515-74insGGGGGGGGGT (n.*515-75_*515-74insGGGGGGGGGT) c.*131-75_*131-74insGGGGGGGGGT (n.*131-75_*131-74insGGGGGGGGGT) c.264+35_264+36insGGGGGGGGGT (n.264+35_264+36insGGGGGGGGGT) c.534-75_534-74insGGGGGGGGGT (n.534-75_534-74insGGGGGGGGGT) c.471-75_471-74insGGGGGGGGGT (n.471-75_471-74insGGGGGGGGGT) c.540-75_540-74insGGGGGGGGGT (n.540-75_540-74insGGGGGGGGGT) | gnomAD v4 |
1 | g.6474661_6474662insCCCCCCCCCCCCCC | CA2543590574 | PLEKHG5 | c.303-75_303-74insGGGGGGGGGGGGGG (n.303-75_303-74insGGGGGGGGGGGGGG) c.477-75_477-74insGGGGGGGGGGGGGG (n.477-75_477-74insGGGGGGGGGGGGGG) c.414-75_414-74insGGGGGGGGGGGGGG (n.414-75_414-74insGGGGGGGGGGGGGG) n.704_705insGGGGGGGGGGGGGG c.510-75_510-74insGGGGGGGGGGGGGG (n.510-75_510-74insGGGGGGGGGGGGGG) c.600-75_600-74insGGGGGGGGGGGGGG (n.600-75_600-74insGGGGGGGGGGGGGG) c.*515-75_*515-74insGGGGGGGGGGGGGG (n.*515-75_*515-74insGGGGGGGGGGGGGG) c.*131-75_*131-74insGGGGGGGGGGGGGG (n.*131-75_*131-74insGGGGGGGGGGGGGG) c.264+35_264+36insGGGGGGGGGGGGGG (n.264+35_264+36insGGGGGGGGGGGGGG) c.534-75_534-74insGGGGGGGGGGGGGG (n.534-75_534-74insGGGGGGGGGGGGGG) c.471-75_471-74insGGGGGGGGGGGGGG (n.471-75_471-74insGGGGGGGGGGGGGG) c.540-75_540-74insGGGGGGGGGGGGGG (n.540-75_540-74insGGGGGGGGGGGGGG) | |
1 | g.6474661_6474662insACCCCCCCCCCCCCCCCCCCCCCCCCC | CA2592134465 | PLEKHG5 | c.303-75_303-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.303-75_303-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.477-75_477-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.477-75_477-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.414-75_414-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.414-75_414-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) n.704_705insGGGGGGGGGGGGGGGGGGGGGGGGGGT c.510-75_510-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.510-75_510-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.600-75_600-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.600-75_600-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.*515-75_*515-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.*515-75_*515-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.*131-75_*131-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.*131-75_*131-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.264+35_264+36insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.264+35_264+36insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.534-75_534-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.534-75_534-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.471-75_471-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.471-75_471-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.540-75_540-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.540-75_540-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) | gnomAD v3 gnomAD v4 |
1 | g.6474661_6474662insCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2592134464 | PLEKHG5 | c.303-75_303-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-75_303-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-75_477-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-75_477-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-75_414-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-75_414-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.704_705insGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-75_510-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-75_510-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-75_600-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-75_600-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-75_*515-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-75_*515-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-75_*131-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-75_*131-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+35_264+36insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+35_264+36insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-75_534-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-75_534-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-75_471-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-75_471-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-75_540-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-75_540-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474661_6474662insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979605 | PLEKHG5 | c.303-75_303-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-75_303-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-75_477-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-75_477-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-75_414-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-75_414-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.704_705insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-75_510-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-75_510-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-75_600-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-75_600-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-75_*515-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-75_*515-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-75_*131-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-75_*131-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+35_264+36insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+35_264+36insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-75_534-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-75_534-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-75_471-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-75_471-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-75_540-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-75_540-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474661_6474662insCCCCCCCCCCCCCCCCCCCCCCCCCCCACC | CA2742323564 | PLEKHG5 | c.303-75_303-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-75_303-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-75_477-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-75_477-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-75_414-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-75_414-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.704_705insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-75_510-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-75_510-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-75_600-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-75_600-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-75_*515-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-75_*515-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-75_*131-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-75_*131-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+35_264+36insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+35_264+36insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-75_534-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-75_534-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-75_471-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-75_471-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-75_540-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-75_540-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
1 | g.6474662del | CA2642979602 | PLEKHG5 | c.303-75del (n.303-75del) c.477-75del (n.477-75del) c.414-75del (n.414-75del) n.704del c.510-75del (n.510-75del) c.600-75del (n.600-75del) c.*515-75del (n.*515-75del) c.*131-75del (n.*131-75del) c.264+35del (n.264+35del) c.534-75del (n.534-75del) c.471-75del (n.471-75del) c.540-75del (n.540-75del) | gnomAD v4 |
1 | g.6474662G>A | CA998179181 | PLEKHG5 | c.303-75C>T (n.303-75C>T) c.477-75C>T (n.477-75C>T) c.414-75C>T (n.414-75C>T) n.704C>T c.510-75C>T (n.510-75C>T) c.600-75C>T (n.600-75C>T) c.*515-75C>T (n.*515-75C>T) c.*131-75C>T (n.*131-75C>T) c.264+35C>T (n.264+35C>T) c.534-75C>T (n.534-75C>T) c.471-75C>T (n.471-75C>T) c.540-75C>T (n.540-75C>T) | gnomAD v3 gnomAD v4 |
1 | g.6474662G>C | CA520766034 | PLEKHG5 | c.303-75C>G (n.303-75C>G) c.477-75C>G (n.477-75C>G) c.414-75C>G (n.414-75C>G) n.704C>G c.510-75C>G (n.510-75C>G) c.600-75C>G (n.600-75C>G) c.*515-75C>G (n.*515-75C>G) c.*131-75C>G (n.*131-75C>G) c.264+35C>G (n.264+35C>G) c.534-75C>G (n.534-75C>G) c.471-75C>G (n.471-75C>G) c.540-75C>G (n.540-75C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474662G= | CA1151507296 | PLEKHG5 | c.303-75C= (n.303-75C=) c.477-75C= (n.477-75C=) c.414-75C= (n.414-75C=) n.704C= c.510-75C= (n.510-75C=) c.600-75C= (n.600-75C=) c.*515-75C= (n.*515-75C=) c.*131-75C= (n.*131-75C=) c.264+35C= (n.264+35C=) c.534-75C= (n.534-75C=) c.471-75C= (n.471-75C=) c.540-75C= (n.540-75C=) | |
1 | g.6474662G>T | CA998179188 | PLEKHG5 | c.303-75C>A (n.303-75C>A) c.477-75C>A (n.477-75C>A) c.414-75C>A (n.414-75C>A) n.704C>A c.510-75C>A (n.510-75C>A) c.600-75C>A (n.600-75C>A) c.*515-75C>A (n.*515-75C>A) c.*131-75C>A (n.*131-75C>A) c.264+35C>A (n.264+35C>A) c.534-75C>A (n.534-75C>A) c.471-75C>A (n.471-75C>A) c.540-75C>A (n.540-75C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474662dup | CA998179179 | PLEKHG5 | c.303-75dup (n.303-75dup) c.477-75dup (n.477-75dup) c.414-75dup (n.414-75dup) n.704dup c.510-75dup (n.510-75dup) c.600-75dup (n.600-75dup) c.*515-75dup (n.*515-75dup) c.*131-75dup (n.*131-75dup) c.264+35dup (n.264+35dup) c.534-75dup (n.534-75dup) c.471-75dup (n.471-75dup) c.540-75dup (n.540-75dup) | gnomAD v3 gnomAD v4 |
1 | g.6474662_6474663insA | CA2642979814 | PLEKHG5 | c.303-76_303-75insT (n.303-76_303-75insT) c.477-76_477-75insT (n.477-76_477-75insT) c.414-76_414-75insT (n.414-76_414-75insT) n.703_704insT c.510-76_510-75insT (n.510-76_510-75insT) c.600-76_600-75insT (n.600-76_600-75insT) c.*515-76_*515-75insT (n.*515-76_*515-75insT) c.*131-76_*131-75insT (n.*131-76_*131-75insT) c.264+34_264+35insT (n.264+34_264+35insT) c.534-76_534-75insT (n.534-76_534-75insT) c.471-76_471-75insT (n.471-76_471-75insT) c.540-76_540-75insT (n.540-76_540-75insT) | gnomAD v4 |
1 | g.6474662_6474663insGC | CA998179227 | PLEKHG5 | c.303-76_303-75insGC (n.303-76_303-75insGC) c.477-76_477-75insGC (n.477-76_477-75insGC) c.414-76_414-75insGC (n.414-76_414-75insGC) n.703_704insGC c.510-76_510-75insGC (n.510-76_510-75insGC) c.600-76_600-75insGC (n.600-76_600-75insGC) c.*515-76_*515-75insGC (n.*515-76_*515-75insGC) c.*131-76_*131-75insGC (n.*131-76_*131-75insGC) c.264+34_264+35insGC (n.264+34_264+35insGC) c.534-76_534-75insGC (n.534-76_534-75insGC) c.471-76_471-75insGC (n.471-76_471-75insGC) c.540-76_540-75insGC (n.540-76_540-75insGC) | gnomAD v3 gnomAD v4 |
1 | g.6474662_6474663insACC | CA2642979816 | PLEKHG5 | c.303-76_303-75insGGT (n.303-76_303-75insGGT) c.477-76_477-75insGGT (n.477-76_477-75insGGT) c.414-76_414-75insGGT (n.414-76_414-75insGGT) n.703_704insGGT c.510-76_510-75insGGT (n.510-76_510-75insGGT) c.600-76_600-75insGGT (n.600-76_600-75insGGT) c.*515-76_*515-75insGGT (n.*515-76_*515-75insGGT) c.*131-76_*131-75insGGT (n.*131-76_*131-75insGGT) c.264+34_264+35insGGT (n.264+34_264+35insGGT) c.534-76_534-75insGGT (n.534-76_534-75insGGT) c.471-76_471-75insGGT (n.471-76_471-75insGGT) c.540-76_540-75insGGT (n.540-76_540-75insGGT) | gnomAD v4 |
1 | g.6474662_6474663insGCC | CA998179225 | PLEKHG5 | c.303-76_303-75insGGC (n.303-76_303-75insGGC) c.477-76_477-75insGGC (n.477-76_477-75insGGC) c.414-76_414-75insGGC (n.414-76_414-75insGGC) n.703_704insGGC c.510-76_510-75insGGC (n.510-76_510-75insGGC) c.600-76_600-75insGGC (n.600-76_600-75insGGC) c.*515-76_*515-75insGGC (n.*515-76_*515-75insGGC) c.*131-76_*131-75insGGC (n.*131-76_*131-75insGGC) c.264+34_264+35insGGC (n.264+34_264+35insGGC) c.534-76_534-75insGGC (n.534-76_534-75insGGC) c.471-76_471-75insGGC (n.471-76_471-75insGGC) c.540-76_540-75insGGC (n.540-76_540-75insGGC) | gnomAD v3 gnomAD v4 |
1 | g.6474662_6474663insGCCC | CA998179224 | PLEKHG5 | c.303-76_303-75insGGGC (n.303-76_303-75insGGGC) c.477-76_477-75insGGGC (n.477-76_477-75insGGGC) c.414-76_414-75insGGGC (n.414-76_414-75insGGGC) n.703_704insGGGC c.510-76_510-75insGGGC (n.510-76_510-75insGGGC) c.600-76_600-75insGGGC (n.600-76_600-75insGGGC) c.*515-76_*515-75insGGGC (n.*515-76_*515-75insGGGC) c.*131-76_*131-75insGGGC (n.*131-76_*131-75insGGGC) c.264+34_264+35insGGGC (n.264+34_264+35insGGGC) c.534-76_534-75insGGGC (n.534-76_534-75insGGGC) c.471-76_471-75insGGGC (n.471-76_471-75insGGGC) c.540-76_540-75insGGGC (n.540-76_540-75insGGGC) | gnomAD v3 gnomAD v4 |
1 | g.6474662_6474663insGCCCC | CA2642979728 | PLEKHG5 | c.303-76_303-75insGGGGC (n.303-76_303-75insGGGGC) c.477-76_477-75insGGGGC (n.477-76_477-75insGGGGC) c.414-76_414-75insGGGGC (n.414-76_414-75insGGGGC) n.703_704insGGGGC c.510-76_510-75insGGGGC (n.510-76_510-75insGGGGC) c.600-76_600-75insGGGGC (n.600-76_600-75insGGGGC) c.*515-76_*515-75insGGGGC (n.*515-76_*515-75insGGGGC) c.*131-76_*131-75insGGGGC (n.*131-76_*131-75insGGGGC) c.264+34_264+35insGGGGC (n.264+34_264+35insGGGGC) c.534-76_534-75insGGGGC (n.534-76_534-75insGGGGC) c.471-76_471-75insGGGGC (n.471-76_471-75insGGGGC) c.540-76_540-75insGGGGC (n.540-76_540-75insGGGGC) | gnomAD v4 |
1 | g.6474662_6474663insGCCCCC | CA998179223 | PLEKHG5 | c.303-76_303-75insGGGGGC (n.303-76_303-75insGGGGGC) c.477-76_477-75insGGGGGC (n.477-76_477-75insGGGGGC) c.414-76_414-75insGGGGGC (n.414-76_414-75insGGGGGC) n.703_704insGGGGGC c.510-76_510-75insGGGGGC (n.510-76_510-75insGGGGGC) c.600-76_600-75insGGGGGC (n.600-76_600-75insGGGGGC) c.*515-76_*515-75insGGGGGC (n.*515-76_*515-75insGGGGGC) c.*131-76_*131-75insGGGGGC (n.*131-76_*131-75insGGGGGC) c.264+34_264+35insGGGGGC (n.264+34_264+35insGGGGGC) c.534-76_534-75insGGGGGC (n.534-76_534-75insGGGGGC) c.471-76_471-75insGGGGGC (n.471-76_471-75insGGGGGC) c.540-76_540-75insGGGGGC (n.540-76_540-75insGGGGGC) | gnomAD v3 gnomAD v4 |
1 | g.6474662_6474663insGCCCCCC | CA998179222 | PLEKHG5 | c.303-76_303-75insGGGGGGC (n.303-76_303-75insGGGGGGC) c.477-76_477-75insGGGGGGC (n.477-76_477-75insGGGGGGC) c.414-76_414-75insGGGGGGC (n.414-76_414-75insGGGGGGC) n.703_704insGGGGGGC c.510-76_510-75insGGGGGGC (n.510-76_510-75insGGGGGGC) c.600-76_600-75insGGGGGGC (n.600-76_600-75insGGGGGGC) c.*515-76_*515-75insGGGGGGC (n.*515-76_*515-75insGGGGGGC) c.*131-76_*131-75insGGGGGGC (n.*131-76_*131-75insGGGGGGC) c.264+34_264+35insGGGGGGC (n.264+34_264+35insGGGGGGC) c.534-76_534-75insGGGGGGC (n.534-76_534-75insGGGGGGC) c.471-76_471-75insGGGGGGC (n.471-76_471-75insGGGGGGC) c.540-76_540-75insGGGGGGC (n.540-76_540-75insGGGGGGC) | gnomAD v3 gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCC | CA2547281353 | PLEKHG5 | c.303-76_303-75insGGGGGGGC (n.303-76_303-75insGGGGGGGC) c.477-76_477-75insGGGGGGGC (n.477-76_477-75insGGGGGGGC) c.414-76_414-75insGGGGGGGC (n.414-76_414-75insGGGGGGGC) n.703_704insGGGGGGGC c.510-76_510-75insGGGGGGGC (n.510-76_510-75insGGGGGGGC) c.600-76_600-75insGGGGGGGC (n.600-76_600-75insGGGGGGGC) c.*515-76_*515-75insGGGGGGGC (n.*515-76_*515-75insGGGGGGGC) c.*131-76_*131-75insGGGGGGGC (n.*131-76_*131-75insGGGGGGGC) c.264+34_264+35insGGGGGGGC (n.264+34_264+35insGGGGGGGC) c.534-76_534-75insGGGGGGGC (n.534-76_534-75insGGGGGGGC) c.471-76_471-75insGGGGGGGC (n.471-76_471-75insGGGGGGGC) c.540-76_540-75insGGGGGGGC (n.540-76_540-75insGGGGGGGC) | gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCCC | CA2742323567 | PLEKHG5 | c.303-76_303-75insGGGGGGGGC (n.303-76_303-75insGGGGGGGGC) c.477-76_477-75insGGGGGGGGC (n.477-76_477-75insGGGGGGGGC) c.414-76_414-75insGGGGGGGGC (n.414-76_414-75insGGGGGGGGC) n.703_704insGGGGGGGGC c.510-76_510-75insGGGGGGGGC (n.510-76_510-75insGGGGGGGGC) c.600-76_600-75insGGGGGGGGC (n.600-76_600-75insGGGGGGGGC) c.*515-76_*515-75insGGGGGGGGC (n.*515-76_*515-75insGGGGGGGGC) c.*131-76_*131-75insGGGGGGGGC (n.*131-76_*131-75insGGGGGGGGC) c.264+34_264+35insGGGGGGGGC (n.264+34_264+35insGGGGGGGGC) c.534-76_534-75insGGGGGGGGC (n.534-76_534-75insGGGGGGGGC) c.471-76_471-75insGGGGGGGGC (n.471-76_471-75insGGGGGGGGC) c.540-76_540-75insGGGGGGGGC (n.540-76_540-75insGGGGGGGGC) | |
1 | g.6474662_6474663insGCCCCCCCCCCCC | CA2642979746 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGC (n.303-76_303-75insGGGGGGGGGGGGC) c.477-76_477-75insGGGGGGGGGGGGC (n.477-76_477-75insGGGGGGGGGGGGC) c.414-76_414-75insGGGGGGGGGGGGC (n.414-76_414-75insGGGGGGGGGGGGC) n.703_704insGGGGGGGGGGGGC c.510-76_510-75insGGGGGGGGGGGGC (n.510-76_510-75insGGGGGGGGGGGGC) c.600-76_600-75insGGGGGGGGGGGGC (n.600-76_600-75insGGGGGGGGGGGGC) c.*515-76_*515-75insGGGGGGGGGGGGC (n.*515-76_*515-75insGGGGGGGGGGGGC) c.*131-76_*131-75insGGGGGGGGGGGGC (n.*131-76_*131-75insGGGGGGGGGGGGC) c.264+34_264+35insGGGGGGGGGGGGC (n.264+34_264+35insGGGGGGGGGGGGC) c.534-76_534-75insGGGGGGGGGGGGC (n.534-76_534-75insGGGGGGGGGGGGC) c.471-76_471-75insGGGGGGGGGGGGC (n.471-76_471-75insGGGGGGGGGGGGC) c.540-76_540-75insGGGGGGGGGGGGC (n.540-76_540-75insGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCCCCCCCCCCCCCCC | CA2642979757 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGC (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGC) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGC (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGC) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGC (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGC) n.703_704insGGGGGGGGGGGGGGGGGGGGC c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGC (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGC) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGC (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGC) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGC (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGC) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGC (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGC) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGC (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGC) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGC (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGC) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGC (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGC) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGC (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCCCCCCCCCCCCCCCC | CA998179204 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGC (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGC) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGC (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGC) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGC (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGC) n.703_704insGGGGGGGGGGGGGGGGGGGGGC c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGC (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGC) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGC (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGC) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGC (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGC) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGC (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGC) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGC (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGC) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGC (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGC) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGC (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGC) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGC (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v3 gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979763 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGC c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCCCCCCCCCCACCCCCCCCCCC | CA2642979753 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.303-76_303-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.477-76_477-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.477-76_477-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.414-76_414-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.414-76_414-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) n.703_704insGGGGGGGGGGGTGGGGGGGGGGGGGGGC c.510-76_510-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.510-76_510-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.600-76_600-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.600-76_600-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.*515-76_*515-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.*515-76_*515-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.*131-76_*131-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.*131-76_*131-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.264+34_264+35insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.264+34_264+35insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.534-76_534-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.534-76_534-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.471-76_471-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.471-76_471-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.540-76_540-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.540-76_540-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979769 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC | CA998179220 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.303-76_303-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.477-76_477-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.477-76_477-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.414-76_414-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.414-76_414-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) n.703_704insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC c.510-76_510-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.510-76_510-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.600-76_600-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.600-76_600-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.264+34_264+35insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.264+34_264+35insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.534-76_534-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.534-76_534-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.471-76_471-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.471-76_471-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.540-76_540-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.540-76_540-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) | gnomAD v3 gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCC | CA2642979773 | PLEKHG5 | c.303-76_303-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.303-76_303-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.477-76_477-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.477-76_477-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.414-76_414-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.414-76_414-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.703_704insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC c.510-76_510-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.510-76_510-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.600-76_600-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.600-76_600-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*515-76_*515-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*515-76_*515-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*131-76_*131-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*131-76_*131-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.264+34_264+35insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.264+34_264+35insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.534-76_534-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.534-76_534-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.471-76_471-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.471-76_471-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.540-76_540-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.540-76_540-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474663C>A | CA2642979785 | PLEKHG5 | c.303-76G>T (n.303-76G>T) c.477-76G>T (n.477-76G>T) c.414-76G>T (n.414-76G>T) n.703G>T c.510-76G>T (n.510-76G>T) c.600-76G>T (n.600-76G>T) c.*515-76G>T (n.*515-76G>T) c.*131-76G>T (n.*131-76G>T) c.264+34G>T (n.264+34G>T) c.534-76G>T (n.534-76G>T) c.471-76G>T (n.471-76G>T) c.540-76G>T (n.540-76G>T) | gnomAD v4 |
1 | g.6474663C= | CA1151507306 | PLEKHG5 | c.303-76G= (n.303-76G=) c.477-76G= (n.477-76G=) c.414-76G= (n.414-76G=) n.703G= c.510-76G= (n.510-76G=) c.600-76G= (n.600-76G=) c.*515-76G= (n.*515-76G=) c.*131-76G= (n.*131-76G=) c.264+34G= (n.264+34G=) c.534-76G= (n.534-76G=) c.471-76G= (n.471-76G=) c.540-76G= (n.540-76G=) | |
1 | g.6474663C>G | CA998179206 | PLEKHG5 | c.303-76G>C (n.303-76G>C) c.477-76G>C (n.477-76G>C) c.414-76G>C (n.414-76G>C) n.703G>C c.510-76G>C (n.510-76G>C) c.600-76G>C (n.600-76G>C) c.*515-76G>C (n.*515-76G>C) c.*131-76G>C (n.*131-76G>C) c.264+34G>C (n.264+34G>C) c.534-76G>C (n.534-76G>C) c.471-76G>C (n.471-76G>C) c.540-76G>C (n.540-76G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474663C>T | CA2574193723 | PLEKHG5 | c.303-76G>A (n.303-76G>A) c.477-76G>A (n.477-76G>A) c.414-76G>A (n.414-76G>A) n.703G>A c.510-76G>A (n.510-76G>A) c.600-76G>A (n.600-76G>A) c.*515-76G>A (n.*515-76G>A) c.*131-76G>A (n.*131-76G>A) c.264+34G>A (n.264+34G>A) c.534-76G>A (n.534-76G>A) c.471-76G>A (n.471-76G>A) c.540-76G>A (n.540-76G>A) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCC | CA998179257 | PLEKHG5 | c.303-76_303-75insGGGGGG (n.303-76_303-75insGGGGGG) c.477-76_477-75insGGGGGG (n.477-76_477-75insGGGGGG) c.414-76_414-75insGGGGGG (n.414-76_414-75insGGGGGG) n.703_704insGGGGGG c.510-76_510-75insGGGGGG (n.510-76_510-75insGGGGGG) c.600-76_600-75insGGGGGG (n.600-76_600-75insGGGGGG) c.*515-76_*515-75insGGGGGG (n.*515-76_*515-75insGGGGGG) c.*131-76_*131-75insGGGGGG (n.*131-76_*131-75insGGGGGG) c.264+34_264+35insGGGGGG (n.264+34_264+35insGGGGGG) c.534-76_534-75insGGGGGG (n.534-76_534-75insGGGGGG) c.471-76_471-75insGGGGGG (n.471-76_471-75insGGGGGG) c.540-76_540-75insGGGGGG (n.540-76_540-75insGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCC | CA520766035 | PLEKHG5 | c.303-76_303-75insGGGGGGG (n.303-76_303-75insGGGGGGG) c.477-76_477-75insGGGGGGG (n.477-76_477-75insGGGGGGG) c.414-76_414-75insGGGGGGG (n.414-76_414-75insGGGGGGG) n.703_704insGGGGGGG c.510-76_510-75insGGGGGGG (n.510-76_510-75insGGGGGGG) c.600-76_600-75insGGGGGGG (n.600-76_600-75insGGGGGGG) c.*515-76_*515-75insGGGGGGG (n.*515-76_*515-75insGGGGGGG) c.*131-76_*131-75insGGGGGGG (n.*131-76_*131-75insGGGGGGG) c.264+34_264+35insGGGGGGG (n.264+34_264+35insGGGGGGG) c.534-76_534-75insGGGGGGG (n.534-76_534-75insGGGGGGG) c.471-76_471-75insGGGGGGG (n.471-76_471-75insGGGGGGG) c.540-76_540-75insGGGGGGG (n.540-76_540-75insGGGGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCC | CA998179261 | PLEKHG5 | c.303-76_303-75insGGGGGGGG (n.303-76_303-75insGGGGGGGG) c.477-76_477-75insGGGGGGGG (n.477-76_477-75insGGGGGGGG) c.414-76_414-75insGGGGGGGG (n.414-76_414-75insGGGGGGGG) n.703_704insGGGGGGGG c.510-76_510-75insGGGGGGGG (n.510-76_510-75insGGGGGGGG) c.600-76_600-75insGGGGGGGG (n.600-76_600-75insGGGGGGGG) c.*515-76_*515-75insGGGGGGGG (n.*515-76_*515-75insGGGGGGGG) c.*131-76_*131-75insGGGGGGGG (n.*131-76_*131-75insGGGGGGGG) c.264+34_264+35insGGGGGGGG (n.264+34_264+35insGGGGGGGG) c.534-76_534-75insGGGGGGGG (n.534-76_534-75insGGGGGGGG) c.471-76_471-75insGGGGGGGG (n.471-76_471-75insGGGGGGGG) c.540-76_540-75insGGGGGGGG (n.540-76_540-75insGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCC | CA2642979829 | PLEKHG5 | c.303-76_303-75insGGGGGGGGG (n.303-76_303-75insGGGGGGGGG) c.477-76_477-75insGGGGGGGGG (n.477-76_477-75insGGGGGGGGG) c.414-76_414-75insGGGGGGGGG (n.414-76_414-75insGGGGGGGGG) n.703_704insGGGGGGGGG c.510-76_510-75insGGGGGGGGG (n.510-76_510-75insGGGGGGGGG) c.600-76_600-75insGGGGGGGGG (n.600-76_600-75insGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGG) c.264+34_264+35insGGGGGGGGG (n.264+34_264+35insGGGGGGGGG) c.534-76_534-75insGGGGGGGGG (n.534-76_534-75insGGGGGGGGG) c.471-76_471-75insGGGGGGGGG (n.471-76_471-75insGGGGGGGGG) c.540-76_540-75insGGGGGGGGG (n.540-76_540-75insGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCC | CA2742323568 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGG) n.703_704insGGGGGGGGGG c.510-76_510-75insGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGG) | |
1 | g.6474667_6474668insCCCCCCCCCCC | CA2642979833 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGG) n.703_704insGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCC | CA998179263 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCC | CA998179270 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCC | CA2642979839 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCC | CA2509496594 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGG) | |
1 | g.6474667_6474668insCCCCCCCCCCCCACCCCC | CA2642979880 | PLEKHG5 | c.303-76_303-75insTGGGGGGGGGGGGGGGGG (n.303-76_303-75insTGGGGGGGGGGGGGGGGG) c.477-76_477-75insTGGGGGGGGGGGGGGGGG (n.477-76_477-75insTGGGGGGGGGGGGGGGGG) c.414-76_414-75insTGGGGGGGGGGGGGGGGG (n.414-76_414-75insTGGGGGGGGGGGGGGGGG) n.703_704insTGGGGGGGGGGGGGGGGG c.510-76_510-75insTGGGGGGGGGGGGGGGGG (n.510-76_510-75insTGGGGGGGGGGGGGGGGG) c.600-76_600-75insTGGGGGGGGGGGGGGGGG (n.600-76_600-75insTGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insTGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insTGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insTGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insTGGGGGGGGGGGGGGGGG) c.264+34_264+35insTGGGGGGGGGGGGGGGGG (n.264+34_264+35insTGGGGGGGGGGGGGGGGG) c.534-76_534-75insTGGGGGGGGGGGGGGGGG (n.534-76_534-75insTGGGGGGGGGGGGGGGGG) c.471-76_471-75insTGGGGGGGGGGGGGGGGG (n.471-76_471-75insTGGGGGGGGGGGGGGGGG) c.540-76_540-75insTGGGGGGGGGGGGGGGGG (n.540-76_540-75insTGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCC | CA998179273 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCAACCCCCCCC | CA2642979849 | PLEKHG5 | c.303-76_303-75insGGGTTGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGTTGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGTTGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGTTGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGTTGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGTTGGGGGGGGGGGGGGGG) n.703_704insGGGTTGGGGGGGGGGGGGGGG c.510-76_510-75insGGGTTGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGTTGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGTTGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGTTGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGTTGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGTTGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGTTGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGTTGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGTTGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGTTGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGTTGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGTTGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGTTGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGTTGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGTTGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGTTGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCACCCCCCCCC | CA2642979858 | PLEKHG5 | c.303-76_303-75insGGGGTGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGTGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGTGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGTGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGTGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGTGGGGGGGGGGGGGGGG) n.703_704insGGGGTGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGTGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGTGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGTGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGTGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGTGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGTGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGTGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGTGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGTGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGTGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGTGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGTGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGTGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGTGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGTGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGTGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCACCCCCCCC | CA2642979888 | PLEKHG5 | c.303-76_303-75insGGGTGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGTGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGTGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGTGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGTGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGTGGGGGGGGGGGGGGGGG) n.703_704insGGGTGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGTGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGTGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGTGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGTGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGTGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGTGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGTGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGTGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGTGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGTGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGTGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGTGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGTGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGTGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGTGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGTGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCC | CA998179275 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCTCCCCCCCCCCCCC | CA2642979718 | PLEKHG5 | c.303-76_303-75insGGGGGGGGAGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGAGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGAGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGAGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGAGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGAGGGGGGGGGGGG) n.703_704insGGGGGGGGAGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGAGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGAGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGAGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGAGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGAGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGAGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGAGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGAGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGAGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGAGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGAGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGAGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGAGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGAGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGAGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGAGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCC | CA2642979906 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCACCCCCCCCCCCC | CA2642979896 | PLEKHG5 | c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGTGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGTGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGTGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGTGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGTGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGTGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGTGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGTGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGTGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGTGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGTGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGTGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCC | CA2592134467 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2522966200 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCACCCCCCCCCCCCCC | CA2642979901 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGTGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2557982706 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCACCCCCCCCCCCCCCC | CA2742323569 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGTGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) | |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCACCCCC | CA2642979705 | PLEKHG5 | c.303-76_303-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insTGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2592134466 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA998179235 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA998179230 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2742323565 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2607767396 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2742323566 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
1 | g.6474667_6474668insCCCCCCCCCCCACCCCCCACCCCCCCCCCCCCCCCC | CA2642979866 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCC | CA2742323570 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) | |
1 | g.6474667_6474668insCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979873 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCCCCCACCCCCCCACCCCCC | CA2642979713 | PLEKHG5 | c.303-76_303-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667dup | CA998179254 | PLEKHG5 | c.303-76dup (n.303-76dup) c.477-76dup (n.477-76dup) c.414-76dup (n.414-76dup) n.703dup c.510-76dup (n.510-76dup) c.600-76dup (n.600-76dup) c.*515-76dup (n.*515-76dup) c.*131-76dup (n.*131-76dup) c.264+34dup (n.264+34dup) c.534-76dup (n.534-76dup) c.471-76dup (n.471-76dup) c.540-76dup (n.540-76dup) | gnomAD v3 gnomAD v4 |
1 | g.6474666_6474667dup | CA998179242 | PLEKHG5 | c.303-77_303-76dup (n.303-77_303-76dup) c.477-77_477-76dup (n.477-77_477-76dup) c.414-77_414-76dup (n.414-77_414-76dup) n.702_703dup c.510-77_510-76dup (n.510-77_510-76dup) c.600-77_600-76dup (n.600-77_600-76dup) c.*515-77_*515-76dup (n.*515-77_*515-76dup) c.*131-77_*131-76dup (n.*131-77_*131-76dup) c.264+33_264+34dup (n.264+33_264+34dup) c.534-77_534-76dup (n.534-77_534-76dup) c.471-77_471-76dup (n.471-77_471-76dup) c.540-77_540-76dup (n.540-77_540-76dup) | gnomAD v3 gnomAD v4 |
1 | g.6474665_6474667dup | CA998179232 | PLEKHG5 | c.303-78_303-76dup (n.303-78_303-76dup) c.477-78_477-76dup (n.477-78_477-76dup) c.414-78_414-76dup (n.414-78_414-76dup) n.701_703dup c.510-78_510-76dup (n.510-78_510-76dup) c.600-78_600-76dup (n.600-78_600-76dup) c.*515-78_*515-76dup (n.*515-78_*515-76dup) c.*131-78_*131-76dup (n.*131-78_*131-76dup) c.264+32_264+34dup (n.264+32_264+34dup) c.534-78_534-76dup (n.534-78_534-76dup) c.471-78_471-76dup (n.471-78_471-76dup) c.540-78_540-76dup (n.540-78_540-76dup) | gnomAD v3 gnomAD v4 |
1 | g.6474664_6474667dup | CA2642979821 | PLEKHG5 | c.303-79_303-76dup (n.303-79_303-76dup) c.477-79_477-76dup (n.477-79_477-76dup) c.414-79_414-76dup (n.414-79_414-76dup) n.700_703dup c.510-79_510-76dup (n.510-79_510-76dup) c.600-79_600-76dup (n.600-79_600-76dup) c.*515-79_*515-76dup (n.*515-79_*515-76dup) c.*131-79_*131-76dup (n.*131-79_*131-76dup) c.264+31_264+34dup (n.264+31_264+34dup) c.534-79_534-76dup (n.534-79_534-76dup) c.471-79_471-76dup (n.471-79_471-76dup) c.540-79_540-76dup (n.540-79_540-76dup) | gnomAD v4 |
1 | g.6474663_6474667dup | CA2592134468 | PLEKHG5 | c.303-80_303-76dup (n.303-80_303-76dup) c.477-80_477-76dup (n.477-80_477-76dup) c.414-80_414-76dup (n.414-80_414-76dup) n.699_703dup c.510-80_510-76dup (n.510-80_510-76dup) c.600-80_600-76dup (n.600-80_600-76dup) c.*515-80_*515-76dup (n.*515-80_*515-76dup) c.*131-80_*131-76dup (n.*131-80_*131-76dup) c.264+30_264+34dup (n.264+30_264+34dup) c.534-80_534-76dup (n.534-80_534-76dup) c.471-80_471-76dup (n.471-80_471-76dup) c.540-80_540-76dup (n.540-80_540-76dup) | gnomAD v3 gnomAD v4 |
1 | g.6474667del | CA2642979781 | PLEKHG5 | c.303-76del (n.303-76del) c.477-76del (n.477-76del) c.414-76del (n.414-76del) n.703del c.510-76del (n.510-76del) c.600-76del (n.600-76del) c.*515-76del (n.*515-76del) c.*131-76del (n.*131-76del) c.264+34del (n.264+34del) c.534-76del (n.534-76del) c.471-76del (n.471-76del) c.540-76del (n.540-76del) | gnomAD v4 |
1 | g.6474666_6474667del | CA2574193725 | PLEKHG5 | c.303-77_303-76del (n.303-77_303-76del) c.477-77_477-76del (n.477-77_477-76del) c.414-77_414-76del (n.414-77_414-76del) n.702_703del c.510-77_510-76del (n.510-77_510-76del) c.600-77_600-76del (n.600-77_600-76del) c.*515-77_*515-76del (n.*515-77_*515-76del) c.*131-77_*131-76del (n.*131-77_*131-76del) c.264+33_264+34del (n.264+33_264+34del) c.534-77_534-76del (n.534-77_534-76del) c.471-77_471-76del (n.471-77_471-76del) c.540-77_540-76del (n.540-77_540-76del) | |
1 | g.6474664C= | CA1151507314 | PLEKHG5 | c.303-77G= (n.303-77G=) c.477-77G= (n.477-77G=) c.414-77G= (n.414-77G=) n.702G= c.510-77G= (n.510-77G=) c.600-77G= (n.600-77G=) c.*515-77G= (n.*515-77G=) c.*131-77G= (n.*131-77G=) c.264+33G= (n.264+33G=) c.534-77G= (n.534-77G=) c.471-77G= (n.471-77G=) c.540-77G= (n.540-77G=) | |
1 | g.6474664C>G | CA2695293759 | PLEKHG5 | c.303-77G>C (n.303-77G>C) c.477-77G>C (n.477-77G>C) c.414-77G>C (n.414-77G>C) n.702G>C c.510-77G>C (n.510-77G>C) c.600-77G>C (n.600-77G>C) c.*515-77G>C (n.*515-77G>C) c.*131-77G>C (n.*131-77G>C) c.264+33G>C (n.264+33G>C) c.534-77G>C (n.534-77G>C) c.471-77G>C (n.471-77G>C) c.540-77G>C (n.540-77G>C) | dbSNP |
1 | g.6474664C>T | CA1151507317 | PLEKHG5 | c.303-77G>A (n.303-77G>A) c.477-77G>A (n.477-77G>A) c.414-77G>A (n.414-77G>A) n.702G>A c.510-77G>A (n.510-77G>A) c.600-77G>A (n.600-77G>A) c.*515-77G>A (n.*515-77G>A) c.*131-77G>A (n.*131-77G>A) c.264+33G>A (n.264+33G>A) c.534-77G>A (n.534-77G>A) c.471-77G>A (n.471-77G>A) c.540-77G>A (n.540-77G>A) | dbSNP gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCACCCC | CA2642979943 | PLEKHG5 | c.303-77_303-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-77_303-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-77_477-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-77_477-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-77_414-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-77_414-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) n.702_703insTGGGGGGGGGGGGGGGGGGGGGGGGG c.510-77_510-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-77_510-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-77_600-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-77_600-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-77_*515-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-77_*515-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-77_*131-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-77_*131-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+33_264+34insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+33_264+34insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-77_534-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-77_534-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-77_471-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-77_471-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-77_540-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-77_540-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474665C>A | CA2832538546 | PLEKHG5 | c.303-78G>T (n.303-78G>T) c.477-78G>T (n.477-78G>T) c.414-78G>T (n.414-78G>T) n.701G>T c.510-78G>T (n.510-78G>T) c.600-78G>T (n.600-78G>T) c.*515-78G>T (n.*515-78G>T) c.*131-78G>T (n.*131-78G>T) c.264+32G>T (n.264+32G>T) c.534-78G>T (n.534-78G>T) c.471-78G>T (n.471-78G>T) c.540-78G>T (n.540-78G>T) | |
1 | g.6474665C= | CA1151507319 | PLEKHG5 | c.303-78G= (n.303-78G=) c.477-78G= (n.477-78G=) c.414-78G= (n.414-78G=) n.701G= c.510-78G= (n.510-78G=) c.600-78G= (n.600-78G=) c.*515-78G= (n.*515-78G=) c.*131-78G= (n.*131-78G=) c.264+32G= (n.264+32G=) c.534-78G= (n.534-78G=) c.471-78G= (n.471-78G=) c.540-78G= (n.540-78G=) | |
1 | g.6474665C>T | CA1151507320 | PLEKHG5 | c.303-78G>A (n.303-78G>A) c.477-78G>A (n.477-78G>A) c.414-78G>A (n.414-78G>A) n.701G>A c.510-78G>A (n.510-78G>A) c.600-78G>A (n.600-78G>A) c.*515-78G>A (n.*515-78G>A) c.*131-78G>A (n.*131-78G>A) c.264+32G>A (n.264+32G>A) c.534-78G>A (n.534-78G>A) c.471-78G>A (n.471-78G>A) c.540-78G>A (n.540-78G>A) | dbSNP |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCC | CA2642979944 | PLEKHG5 | c.303-78_303-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-78_303-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-78_477-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-78_477-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-78_414-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-78_414-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.701_702insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-78_510-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-78_510-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-78_600-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-78_600-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-78_*515-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-78_*515-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-78_*131-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-78_*131-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+32_264+33insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+32_264+33insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-78_534-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-78_534-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-78_471-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-78_471-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-78_540-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-78_540-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474668_6474676del | CA2642979945 | PLEKHG5 | c.303-86_303-78del (n.303-86_303-78del) c.477-86_477-78del (n.477-86_477-78del) c.414-86_414-78del (n.414-86_414-78del) n.693_701del c.510-86_510-78del (n.510-86_510-78del) c.600-86_600-78del (n.600-86_600-78del) c.*515-86_*515-78del (n.*515-86_*515-78del) c.*131-86_*131-78del (n.*131-86_*131-78del) c.264+24_264+32del (n.264+24_264+32del) c.534-86_534-78del (n.534-86_534-78del) c.471-86_471-78del (n.471-86_471-78del) c.540-86_540-78del (n.540-86_540-78del) | gnomAD v4 |
1 | g.6474666C>T | CA2574193726 | PLEKHG5 | c.303-79G>A (n.303-79G>A) c.477-79G>A (n.477-79G>A) c.414-79G>A (n.414-79G>A) n.700G>A c.510-79G>A (n.510-79G>A) c.600-79G>A (n.600-79G>A) c.*515-79G>A (n.*515-79G>A) c.*131-79G>A (n.*131-79G>A) c.264+31G>A (n.264+31G>A) c.534-79G>A (n.534-79G>A) c.471-79G>A (n.471-79G>A) c.540-79G>A (n.540-79G>A) | gnomAD v4 |
1 | g.6474667_6474678del | CA2592134469 | PLEKHG5 | c.303-90_303-79del (n.303-90_303-79del) c.477-90_477-79del (n.477-90_477-79del) c.414-90_414-79del (n.414-90_414-79del) n.689_700del c.510-90_510-79del (n.510-90_510-79del) c.600-90_600-79del (n.600-90_600-79del) c.*515-90_*515-79del (n.*515-90_*515-79del) c.*131-90_*131-79del (n.*131-90_*131-79del) c.264+20_264+31del (n.264+20_264+31del) c.534-90_534-79del (n.534-90_534-79del) c.471-90_471-79del (n.471-90_471-79del) c.540-90_540-79del (n.540-90_540-79del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474667C>A | CA998179284 | PLEKHG5 | c.303-80G>T (n.303-80G>T) c.477-80G>T (n.477-80G>T) c.414-80G>T (n.414-80G>T) n.699G>T c.510-80G>T (n.510-80G>T) c.600-80G>T (n.600-80G>T) c.*515-80G>T (n.*515-80G>T) c.*131-80G>T (n.*131-80G>T) c.264+30G>T (n.264+30G>T) c.534-80G>T (n.534-80G>T) c.471-80G>T (n.471-80G>T) c.540-80G>T (n.540-80G>T) | gnomAD v3 gnomAD v4 |
1 | g.6474667C= | CA1148037793 | PLEKHG5 | c.303-80G= (n.303-80G=) c.477-80G= (n.477-80G=) c.414-80G= (n.414-80G=) n.699G= c.510-80G= (n.510-80G=) c.600-80G= (n.600-80G=) c.*515-80G= (n.*515-80G=) c.*131-80G= (n.*131-80G=) c.264+30G= (n.264+30G=) c.534-80G= (n.534-80G=) c.471-80G= (n.471-80G=) c.540-80G= (n.540-80G=) | |
1 | g.6474667C>G | CA1151507322 | PLEKHG5 | c.303-80G>C (n.303-80G>C) c.477-80G>C (n.477-80G>C) c.414-80G>C (n.414-80G>C) n.699G>C c.510-80G>C (n.510-80G>C) c.600-80G>C (n.600-80G>C) c.*515-80G>C (n.*515-80G>C) c.*131-80G>C (n.*131-80G>C) c.264+30G>C (n.264+30G>C) c.534-80G>C (n.534-80G>C) c.471-80G>C (n.471-80G>C) c.540-80G>C (n.540-80G>C) | dbSNP gnomAD v4 |
1 | g.6474667C>T | CA17243978 | PLEKHG5 | c.303-80G>A (n.303-80G>A) c.477-80G>A (n.477-80G>A) c.414-80G>A (n.414-80G>A) n.699G>A c.510-80G>A (n.510-80G>A) c.600-80G>A (n.600-80G>A) c.*515-80G>A (n.*515-80G>A) c.*131-80G>A (n.*131-80G>A) c.264+30G>A (n.264+30G>A) c.534-80G>A (n.534-80G>A) c.471-80G>A (n.471-80G>A) c.540-80G>A (n.540-80G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668delinsCG | CA1151507323 | PLEKHG5 | c.303-81_303-80delinsCG (n.303-81_303-80delinsCG) c.477-81_477-80delinsCG (n.477-81_477-80delinsCG) c.414-81_414-80delinsCG (n.414-81_414-80delinsCG) n.698_699delinsCG c.510-81_510-80delinsCG (n.510-81_510-80delinsCG) c.600-81_600-80delinsCG (n.600-81_600-80delinsCG) c.*515-81_*515-80delinsCG (n.*515-81_*515-80delinsCG) c.*131-81_*131-80delinsCG (n.*131-81_*131-80delinsCG) c.264+29_264+30delinsCG (n.264+29_264+30delinsCG) c.534-81_534-80delinsCG (n.534-81_534-80delinsCG) c.471-81_471-80delinsCG (n.471-81_471-80delinsCG) c.540-81_540-80delinsCG (n.540-81_540-80delinsCG) | |
1 | g.6474668_6474669del | CA2642979956 | PLEKHG5 | c.303-81_303-80del (n.303-81_303-80del) c.477-81_477-80del (n.477-81_477-80del) c.414-81_414-80del (n.414-81_414-80del) n.698_699del c.510-81_510-80del (n.510-81_510-80del) c.600-81_600-80del (n.600-81_600-80del) c.*515-81_*515-80del (n.*515-81_*515-80del) c.*131-81_*131-80del (n.*131-81_*131-80del) c.264+29_264+30del (n.264+29_264+30del) c.534-81_534-80del (n.534-81_534-80del) c.471-81_471-80del (n.471-81_471-80del) c.540-81_540-80del (n.540-81_540-80del) | gnomAD v4 |
1 | g.6474668_6474678del | CA2642979958 | PLEKHG5 | c.303-90_303-80del (n.303-90_303-80del) c.477-90_477-80del (n.477-90_477-80del) c.414-90_414-80del (n.414-90_414-80del) n.689_699del c.510-90_510-80del (n.510-90_510-80del) c.600-90_600-80del (n.600-90_600-80del) c.*515-90_*515-80del (n.*515-90_*515-80del) c.*131-90_*131-80del (n.*131-90_*131-80del) c.264+20_264+30del (n.264+20_264+30del) c.534-90_534-80del (n.534-90_534-80del) c.471-90_471-80del (n.471-90_471-80del) c.540-90_540-80del (n.540-90_540-80del) | gnomAD v4 |
1 | g.6474667_6474668insAA | CA2642979974 | PLEKHG5 | c.303-81_303-80insTT (n.303-81_303-80insTT) c.477-81_477-80insTT (n.477-81_477-80insTT) c.414-81_414-80insTT (n.414-81_414-80insTT) n.698_699insTT c.510-81_510-80insTT (n.510-81_510-80insTT) c.600-81_600-80insTT (n.600-81_600-80insTT) c.*515-81_*515-80insTT (n.*515-81_*515-80insTT) c.*131-81_*131-80insTT (n.*131-81_*131-80insTT) c.264+29_264+30insTT (n.264+29_264+30insTT) c.534-81_534-80insTT (n.534-81_534-80insTT) c.471-81_471-80insTT (n.471-81_471-80insTT) c.540-81_540-80insTT (n.540-81_540-80insTT) | gnomAD v4 |
1 | g.6474667_6474668insAG | CA2642979979 | PLEKHG5 | c.303-81_303-80insCT (n.303-81_303-80insCT) c.477-81_477-80insCT (n.477-81_477-80insCT) c.414-81_414-80insCT (n.414-81_414-80insCT) n.698_699insCT c.510-81_510-80insCT (n.510-81_510-80insCT) c.600-81_600-80insCT (n.600-81_600-80insCT) c.*515-81_*515-80insCT (n.*515-81_*515-80insCT) c.*131-81_*131-80insCT (n.*131-81_*131-80insCT) c.264+29_264+30insCT (n.264+29_264+30insCT) c.534-81_534-80insCT (n.534-81_534-80insCT) c.471-81_471-80insCT (n.471-81_471-80insCT) c.540-81_540-80insCT (n.540-81_540-80insCT) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCA | CA2642979982 | PLEKHG5 | c.303-81_303-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.303-81_303-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.477-81_477-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.477-81_477-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.414-81_414-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.414-81_414-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) n.698_699insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG c.510-81_510-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.510-81_510-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.600-81_600-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.600-81_600-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.*515-81_*515-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.*515-81_*515-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.*131-81_*131-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.*131-81_*131-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.264+29_264+30insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.264+29_264+30insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.534-81_534-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.534-81_534-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.471-81_471-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.471-81_471-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.540-81_540-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.540-81_540-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA | CA2695502744 | PLEKHG5 | c.303-81_303-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-81_303-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-81_477-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-81_477-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-81_414-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-81_414-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.698_699insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-81_510-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-81_510-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-81_600-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-81_600-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-81_*515-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-81_*515-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-81_*131-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-81_*131-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+29_264+30insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+29_264+30insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-81_534-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-81_534-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-81_471-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-81_471-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-81_540-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-81_540-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | dbSNP |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAA | CA2742323571 | PLEKHG5 | c.303-81_303-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-81_303-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-81_477-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-81_477-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-81_414-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-81_414-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.698_699insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-81_510-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-81_510-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-81_600-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-81_600-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-81_*515-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-81_*515-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-81_*131-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-81_*131-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+29_264+30insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+29_264+30insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-81_534-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-81_534-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-81_471-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-81_471-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-81_540-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-81_540-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
1 | g.6474668del | CA520766036 | PLEKHG5 | c.303-81del (n.303-81del) c.477-81del (n.477-81del) c.414-81del (n.414-81del) n.698del c.510-81del (n.510-81del) c.600-81del (n.600-81del) c.*515-81del (n.*515-81del) c.*131-81del (n.*131-81del) c.264+29del (n.264+29del) c.534-81del (n.534-81del) c.471-81del (n.471-81del) c.540-81del (n.540-81del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474668G>A | CA520766037 | PLEKHG5 | c.303-81C>T (n.303-81C>T) c.477-81C>T (n.477-81C>T) c.414-81C>T (n.414-81C>T) n.698C>T c.510-81C>T (n.510-81C>T) c.600-81C>T (n.600-81C>T) c.*515-81C>T (n.*515-81C>T) c.*131-81C>T (n.*131-81C>T) c.264+29C>T (n.264+29C>T) c.534-81C>T (n.534-81C>T) c.471-81C>T (n.471-81C>T) c.540-81C>T (n.540-81C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474668G>C | CA17243979 | PLEKHG5 | c.303-81C>G (n.303-81C>G) c.477-81C>G (n.477-81C>G) c.414-81C>G (n.414-81C>G) n.698C>G c.510-81C>G (n.510-81C>G) c.600-81C>G (n.600-81C>G) c.*515-81C>G (n.*515-81C>G) c.*131-81C>G (n.*131-81C>G) c.264+29C>G (n.264+29C>G) c.534-81C>G (n.534-81C>G) c.471-81C>G (n.471-81C>G) c.540-81C>G (n.540-81C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474668G= | CA1149035680 | PLEKHG5 | c.303-81C= (n.303-81C=) c.477-81C= (n.477-81C=) c.414-81C= (n.414-81C=) n.698C= c.510-81C= (n.510-81C=) c.600-81C= (n.600-81C=) c.*515-81C= (n.*515-81C=) c.*131-81C= (n.*131-81C=) c.264+29C= (n.264+29C=) c.534-81C= (n.534-81C=) c.471-81C= (n.471-81C=) c.540-81C= (n.540-81C=) | |
1 | g.6474668G>T | CA17243980 | PLEKHG5 | c.303-81C>A (n.303-81C>A) c.477-81C>A (n.477-81C>A) c.414-81C>A (n.414-81C>A) n.698C>A c.510-81C>A (n.510-81C>A) c.600-81C>A (n.600-81C>A) c.*515-81C>A (n.*515-81C>A) c.*131-81C>A (n.*131-81C>A) c.264+29C>A (n.264+29C>A) c.534-81C>A (n.534-81C>A) c.471-81C>A (n.471-81C>A) c.540-81C>A (n.540-81C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474669C>A | CA2642979997 | PLEKHG5 | c.303-82G>T (n.303-82G>T) c.477-82G>T (n.477-82G>T) c.414-82G>T (n.414-82G>T) n.697G>T c.510-82G>T (n.510-82G>T) c.600-82G>T (n.600-82G>T) c.*515-82G>T (n.*515-82G>T) c.*131-82G>T (n.*131-82G>T) c.264+28G>T (n.264+28G>T) c.534-82G>T (n.534-82G>T) c.471-82G>T (n.471-82G>T) c.540-82G>T (n.540-82G>T) | gnomAD v4 |
1 | g.6474672_6474673insCCCCCCCCCCCCCCC | CA2742323572 | PLEKHG5 | c.303-82_303-81insGGGGGGGGGGGGGGG (n.303-82_303-81insGGGGGGGGGGGGGGG) c.477-82_477-81insGGGGGGGGGGGGGGG (n.477-82_477-81insGGGGGGGGGGGGGGG) c.414-82_414-81insGGGGGGGGGGGGGGG (n.414-82_414-81insGGGGGGGGGGGGGGG) n.697_698insGGGGGGGGGGGGGGG c.510-82_510-81insGGGGGGGGGGGGGGG (n.510-82_510-81insGGGGGGGGGGGGGGG) c.600-82_600-81insGGGGGGGGGGGGGGG (n.600-82_600-81insGGGGGGGGGGGGGGG) c.*515-82_*515-81insGGGGGGGGGGGGGGG (n.*515-82_*515-81insGGGGGGGGGGGGGGG) c.*131-82_*131-81insGGGGGGGGGGGGGGG (n.*131-82_*131-81insGGGGGGGGGGGGGGG) c.264+28_264+29insGGGGGGGGGGGGGGG (n.264+28_264+29insGGGGGGGGGGGGGGG) c.534-82_534-81insGGGGGGGGGGGGGGG (n.534-82_534-81insGGGGGGGGGGGGGGG) c.471-82_471-81insGGGGGGGGGGGGGGG (n.471-82_471-81insGGGGGGGGGGGGGGG) c.540-82_540-81insGGGGGGGGGGGGGGG (n.540-82_540-81insGGGGGGGGGGGGGGG) | |
1 | g.6474672_6474673insCCCCGCCCCCCCCCCCCACCCCC | CA2742323573 | PLEKHG5 | c.303-82_303-81insGTGGGGGGGGGGGGCGGGGGGGG (n.303-82_303-81insGTGGGGGGGGGGGGCGGGGGGGG) c.477-82_477-81insGTGGGGGGGGGGGGCGGGGGGGG (n.477-82_477-81insGTGGGGGGGGGGGGCGGGGGGGG) c.414-82_414-81insGTGGGGGGGGGGGGCGGGGGGGG (n.414-82_414-81insGTGGGGGGGGGGGGCGGGGGGGG) n.697_698insGTGGGGGGGGGGGGCGGGGGGGG c.510-82_510-81insGTGGGGGGGGGGGGCGGGGGGGG (n.510-82_510-81insGTGGGGGGGGGGGGCGGGGGGGG) c.600-82_600-81insGTGGGGGGGGGGGGCGGGGGGGG (n.600-82_600-81insGTGGGGGGGGGGGGCGGGGGGGG) c.*515-82_*515-81insGTGGGGGGGGGGGGCGGGGGGGG (n.*515-82_*515-81insGTGGGGGGGGGGGGCGGGGGGGG) c.*131-82_*131-81insGTGGGGGGGGGGGGCGGGGGGGG (n.*131-82_*131-81insGTGGGGGGGGGGGGCGGGGGGGG) c.264+28_264+29insGTGGGGGGGGGGGGCGGGGGGGG (n.264+28_264+29insGTGGGGGGGGGGGGCGGGGGGGG) c.534-82_534-81insGTGGGGGGGGGGGGCGGGGGGGG (n.534-82_534-81insGTGGGGGGGGGGGGCGGGGGGGG) c.471-82_471-81insGTGGGGGGGGGGGGCGGGGGGGG (n.471-82_471-81insGTGGGGGGGGGGGGCGGGGGGGG) c.540-82_540-81insGTGGGGGGGGGGGGCGGGGGGGG (n.540-82_540-81insGTGGGGGGGGGGGGCGGGGGGGG) | |
1 | g.6474672dup | CA2642980003 | PLEKHG5 | c.303-82dup (n.303-82dup) c.477-82dup (n.477-82dup) c.414-82dup (n.414-82dup) n.697dup c.510-82dup (n.510-82dup) c.600-82dup (n.600-82dup) c.*515-82dup (n.*515-82dup) c.*131-82dup (n.*131-82dup) c.264+28dup (n.264+28dup) c.534-82dup (n.534-82dup) c.471-82dup (n.471-82dup) c.540-82dup (n.540-82dup) | gnomAD v4 |
1 | g.6474672del | CA2642980006 | PLEKHG5 | c.303-82del (n.303-82del) c.477-82del (n.477-82del) c.414-82del (n.414-82del) n.697del c.510-82del (n.510-82del) c.600-82del (n.600-82del) c.*515-82del (n.*515-82del) c.*131-82del (n.*131-82del) c.264+28del (n.264+28del) c.534-82del (n.534-82del) c.471-82del (n.471-82del) c.540-82del (n.540-82del) | gnomAD v4 |
1 | g.6474670_6474672del | CA2695502749 | PLEKHG5 | c.303-84_303-82del (n.303-84_303-82del) c.477-84_477-82del (n.477-84_477-82del) c.414-84_414-82del (n.414-84_414-82del) n.695_697del c.510-84_510-82del (n.510-84_510-82del) c.600-84_600-82del (n.600-84_600-82del) c.*515-84_*515-82del (n.*515-84_*515-82del) c.*131-84_*131-82del (n.*131-84_*131-82del) c.264+26_264+28del (n.264+26_264+28del) c.534-84_534-82del (n.534-84_534-82del) c.471-84_471-82del (n.471-84_471-82del) c.540-84_540-82del (n.540-84_540-82del) | dbSNP |
1 | g.6474670C>A | CA2574193729 | PLEKHG5 | c.303-83G>T (n.303-83G>T) c.477-83G>T (n.477-83G>T) c.414-83G>T (n.414-83G>T) n.696G>T c.510-83G>T (n.510-83G>T) c.600-83G>T (n.600-83G>T) c.*515-83G>T (n.*515-83G>T) c.*131-83G>T (n.*131-83G>T) c.264+27G>T (n.264+27G>T) c.534-83G>T (n.534-83G>T) c.471-83G>T (n.471-83G>T) c.540-83G>T (n.540-83G>T) | gnomAD v4 |
1 | g.6474670C= | CA1151507340 | PLEKHG5 | c.303-83G= (n.303-83G=) c.477-83G= (n.477-83G=) c.414-83G= (n.414-83G=) n.696G= c.510-83G= (n.510-83G=) c.600-83G= (n.600-83G=) c.*515-83G= (n.*515-83G=) c.*131-83G= (n.*131-83G=) c.264+27G= (n.264+27G=) c.534-83G= (n.534-83G=) c.471-83G= (n.471-83G=) c.540-83G= (n.540-83G=) | |
1 | g.6474670C>G | CA2642980021 | PLEKHG5 | c.303-83G>C (n.303-83G>C) c.477-83G>C (n.477-83G>C) c.414-83G>C (n.414-83G>C) n.696G>C c.510-83G>C (n.510-83G>C) c.600-83G>C (n.600-83G>C) c.*515-83G>C (n.*515-83G>C) c.*131-83G>C (n.*131-83G>C) c.264+27G>C (n.264+27G>C) c.534-83G>C (n.534-83G>C) c.471-83G>C (n.471-83G>C) c.540-83G>C (n.540-83G>C) | gnomAD v4 |
1 | g.6474670C>T | CA737854982 | PLEKHG5 | c.303-83G>A (n.303-83G>A) c.477-83G>A (n.477-83G>A) c.414-83G>A (n.414-83G>A) n.696G>A c.510-83G>A (n.510-83G>A) c.600-83G>A (n.600-83G>A) c.*515-83G>A (n.*515-83G>A) c.*131-83G>A (n.*131-83G>A) c.264+27G>A (n.264+27G>A) c.534-83G>A (n.534-83G>A) c.471-83G>A (n.471-83G>A) c.540-83G>A (n.540-83G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474672_6474673insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAAACCC | CA2742323574 | PLEKHG5 | c.303-83_303-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-83_303-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-83_477-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-83_477-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-83_414-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-83_414-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.696_697insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-83_510-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-83_510-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-83_600-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-83_600-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-83_*515-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-83_*515-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-83_*131-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-83_*131-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+27_264+28insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+27_264+28insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-83_534-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-83_534-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-83_471-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-83_471-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-83_540-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-83_540-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
1 | g.6474671C>A | CA2642980027 | PLEKHG5 | c.303-84G>T (n.303-84G>T) c.477-84G>T (n.477-84G>T) c.414-84G>T (n.414-84G>T) n.695G>T c.510-84G>T (n.510-84G>T) c.600-84G>T (n.600-84G>T) c.*515-84G>T (n.*515-84G>T) c.*131-84G>T (n.*131-84G>T) c.264+26G>T (n.264+26G>T) c.534-84G>T (n.534-84G>T) c.471-84G>T (n.471-84G>T) c.540-84G>T (n.540-84G>T) | gnomAD v4 |
1 | g.6474671C= | CA1151507359 | PLEKHG5 | c.303-84G= (n.303-84G=) c.477-84G= (n.477-84G=) c.414-84G= (n.414-84G=) n.695G= c.510-84G= (n.510-84G=) c.600-84G= (n.600-84G=) c.*515-84G= (n.*515-84G=) c.*131-84G= (n.*131-84G=) c.264+26G= (n.264+26G=) c.534-84G= (n.534-84G=) c.471-84G= (n.471-84G=) c.540-84G= (n.540-84G=) | |
1 | g.6474671C>G | CA1151507362 | PLEKHG5 | c.303-84G>C (n.303-84G>C) c.477-84G>C (n.477-84G>C) c.414-84G>C (n.414-84G>C) n.695G>C c.510-84G>C (n.510-84G>C) c.600-84G>C (n.600-84G>C) c.*515-84G>C (n.*515-84G>C) c.*131-84G>C (n.*131-84G>C) c.264+26G>C (n.264+26G>C) c.534-84G>C (n.534-84G>C) c.471-84G>C (n.471-84G>C) c.540-84G>C (n.540-84G>C) | dbSNP gnomAD v4 |
1 | g.6474671C>T | CA2642980033 | PLEKHG5 | c.303-84G>A (n.303-84G>A) c.477-84G>A (n.477-84G>A) c.414-84G>A (n.414-84G>A) n.695G>A c.510-84G>A (n.510-84G>A) c.600-84G>A (n.600-84G>A) c.*515-84G>A (n.*515-84G>A) c.*131-84G>A (n.*131-84G>A) c.264+26G>A (n.264+26G>A) c.534-84G>A (n.534-84G>A) c.471-84G>A (n.471-84G>A) c.540-84G>A (n.540-84G>A) | gnomAD v4 |
1 | g.6474672C>A | CA1151507368 | PLEKHG5 | c.303-85G>T (n.303-85G>T) c.477-85G>T (n.477-85G>T) c.414-85G>T (n.414-85G>T) n.694G>T c.510-85G>T (n.510-85G>T) c.600-85G>T (n.600-85G>T) c.*515-85G>T (n.*515-85G>T) c.*131-85G>T (n.*131-85G>T) c.264+25G>T (n.264+25G>T) c.534-85G>T (n.534-85G>T) c.471-85G>T (n.471-85G>T) c.540-85G>T (n.540-85G>T) | dbSNP gnomAD v4 |
1 | g.6474672C= | CA1151507365 | PLEKHG5 | c.303-85G= (n.303-85G=) c.477-85G= (n.477-85G=) c.414-85G= (n.414-85G=) n.694G= c.510-85G= (n.510-85G=) c.600-85G= (n.600-85G=) c.*515-85G= (n.*515-85G=) c.*131-85G= (n.*131-85G=) c.264+25G= (n.264+25G=) c.534-85G= (n.534-85G=) c.471-85G= (n.471-85G=) c.540-85G= (n.540-85G=) | |
1 | g.6474672C>T | CA520766038 | PLEKHG5 | c.303-85G>A (n.303-85G>A) c.477-85G>A (n.477-85G>A) c.414-85G>A (n.414-85G>A) n.694G>A c.510-85G>A (n.510-85G>A) c.600-85G>A (n.600-85G>A) c.*515-85G>A (n.*515-85G>A) c.*131-85G>A (n.*131-85G>A) c.264+25G>A (n.264+25G>A) c.534-85G>A (n.534-85G>A) c.471-85G>A (n.471-85G>A) c.540-85G>A (n.540-85G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474672_6474673insCCT | CA2742323575 | PLEKHG5 | c.303-86_303-85insAGG (n.303-86_303-85insAGG) c.477-86_477-85insAGG (n.477-86_477-85insAGG) c.414-86_414-85insAGG (n.414-86_414-85insAGG) n.693_694insAGG c.510-86_510-85insAGG (n.510-86_510-85insAGG) c.600-86_600-85insAGG (n.600-86_600-85insAGG) c.*515-86_*515-85insAGG (n.*515-86_*515-85insAGG) c.*131-86_*131-85insAGG (n.*131-86_*131-85insAGG) c.264+24_264+25insAGG (n.264+24_264+25insAGG) c.534-86_534-85insAGG (n.534-86_534-85insAGG) c.471-86_471-85insAGG (n.471-86_471-85insAGG) c.540-86_540-85insAGG (n.540-86_540-85insAGG) | |
1 | g.6474672_6474673insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA | CA2592134471 | PLEKHG5 | c.303-86_303-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-86_303-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-86_477-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-86_477-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-86_414-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-86_414-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.693_694insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-86_510-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-86_510-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-86_600-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-86_600-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-86_*515-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-86_*515-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-86_*131-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-86_*131-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+24_264+25insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+24_264+25insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-86_534-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-86_534-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-86_471-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-86_471-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-86_540-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-86_540-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474673del | CA998179295 | PLEKHG5 | c.303-86del (n.303-86del) c.477-86del (n.477-86del) c.414-86del (n.414-86del) n.693del c.510-86del (n.510-86del) c.600-86del (n.600-86del) c.*515-86del (n.*515-86del) c.*131-86del (n.*131-86del) c.264+24del (n.264+24del) c.534-86del (n.534-86del) c.471-86del (n.471-86del) c.540-86del (n.540-86del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474673A= | CA1151507371 | PLEKHG5 | c.303-86T= (n.303-86T=) c.477-86T= (n.477-86T=) c.414-86T= (n.414-86T=) n.693T= c.510-86T= (n.510-86T=) c.600-86T= (n.600-86T=) c.*515-86T= (n.*515-86T=) c.*131-86T= (n.*131-86T=) c.264+24T= (n.264+24T=) c.534-86T= (n.534-86T=) c.471-86T= (n.471-86T=) c.540-86T= (n.540-86T=) | |
1 | g.6474673A>C | CA520766039 | PLEKHG5 | c.303-86T>G (n.303-86T>G) c.477-86T>G (n.477-86T>G) c.414-86T>G (n.414-86T>G) n.693T>G c.510-86T>G (n.510-86T>G) c.600-86T>G (n.600-86T>G) c.*515-86T>G (n.*515-86T>G) c.*131-86T>G (n.*131-86T>G) c.264+24T>G (n.264+24T>G) c.534-86T>G (n.534-86T>G) c.471-86T>G (n.471-86T>G) c.540-86T>G (n.540-86T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474673_6474680del | CA998179297 | PLEKHG5 | c.303-93_303-86del (n.303-93_303-86del) c.477-93_477-86del (n.477-93_477-86del) c.414-93_414-86del (n.414-93_414-86del) n.686_693del c.510-93_510-86del (n.510-93_510-86del) c.600-93_600-86del (n.600-93_600-86del) c.*515-93_*515-86del (n.*515-93_*515-86del) c.*131-93_*131-86del (n.*131-93_*131-86del) c.264+17_264+24del (n.264+17_264+24del) c.534-93_534-86del (n.534-93_534-86del) c.471-93_471-86del (n.471-93_471-86del) c.540-93_540-86del (n.540-93_540-86del) | gnomAD v3 gnomAD v4 |
1 | g.6474673_6474689del | CA998179300 | PLEKHG5 | c.303-102_303-86del (n.303-102_303-86del) c.477-102_477-86del (n.477-102_477-86del) c.414-102_414-86del (n.414-102_414-86del) n.677_693del c.510-102_510-86del (n.510-102_510-86del) c.600-102_600-86del (n.600-102_600-86del) c.*515-102_*515-86del (n.*515-102_*515-86del) c.*131-102_*131-86del (n.*131-102_*131-86del) c.264+8_264+24del (n.264+8_264+24del) c.534-102_534-86del (n.534-102_534-86del) c.471-102_471-86del (n.471-102_471-86del) c.540-102_540-86del (n.540-102_540-86del) | gnomAD v3 gnomAD v4 |
1 | g.6474674C>T | CA2574193733 | PLEKHG5 | c.303-87G>A (n.303-87G>A) c.477-87G>A (n.477-87G>A) c.414-87G>A (n.414-87G>A) n.692G>A c.510-87G>A (n.510-87G>A) c.600-87G>A (n.600-87G>A) c.*515-87G>A (n.*515-87G>A) c.*131-87G>A (n.*131-87G>A) c.264+23G>A (n.264+23G>A) c.534-87G>A (n.534-87G>A) c.471-87G>A (n.471-87G>A) c.540-87G>A (n.540-87G>A) | gnomAD v4 |
1 | g.6474676del | CA2642980057 | PLEKHG5 | c.303-87del (n.303-87del) c.477-87del (n.477-87del) c.414-87del (n.414-87del) n.692del c.510-87del (n.510-87del) c.600-87del (n.600-87del) c.*515-87del (n.*515-87del) c.*131-87del (n.*131-87del) c.264+23del (n.264+23del) c.534-87del (n.534-87del) c.471-87del (n.471-87del) c.540-87del (n.540-87del) | gnomAD v4 |
1 | g.6474675C>A | CA2642980060 | PLEKHG5 | c.303-88G>T (n.303-88G>T) c.477-88G>T (n.477-88G>T) c.414-88G>T (n.414-88G>T) n.691G>T c.510-88G>T (n.510-88G>T) c.600-88G>T (n.600-88G>T) c.*515-88G>T (n.*515-88G>T) c.*131-88G>T (n.*131-88G>T) c.264+22G>T (n.264+22G>T) c.534-88G>T (n.534-88G>T) c.471-88G>T (n.471-88G>T) c.540-88G>T (n.540-88G>T) | gnomAD v4 |
1 | g.6474675C= | CA1151507373 | PLEKHG5 | c.303-88G= (n.303-88G=) c.477-88G= (n.477-88G=) c.414-88G= (n.414-88G=) n.691G= c.510-88G= (n.510-88G=) c.600-88G= (n.600-88G=) c.*515-88G= (n.*515-88G=) c.*131-88G= (n.*131-88G=) c.264+22G= (n.264+22G=) c.534-88G= (n.534-88G=) c.471-88G= (n.471-88G=) c.540-88G= (n.540-88G=) | |
1 | g.6474675C>T | CA998179303 | PLEKHG5 | c.303-88G>A (n.303-88G>A) c.477-88G>A (n.477-88G>A) c.414-88G>A (n.414-88G>A) n.691G>A c.510-88G>A (n.510-88G>A) c.600-88G>A (n.600-88G>A) c.*515-88G>A (n.*515-88G>A) c.*131-88G>A (n.*131-88G>A) c.264+22G>A (n.264+22G>A) c.534-88G>A (n.534-88G>A) c.471-88G>A (n.471-88G>A) c.540-88G>A (n.540-88G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474676C>T | CA2642980069 | PLEKHG5 | c.303-89G>A (n.303-89G>A) c.477-89G>A (n.477-89G>A) c.414-89G>A (n.414-89G>A) n.690G>A c.510-89G>A (n.510-89G>A) c.600-89G>A (n.600-89G>A) c.*515-89G>A (n.*515-89G>A) c.*131-89G>A (n.*131-89G>A) c.264+21G>A (n.264+21G>A) c.534-89G>A (n.534-89G>A) c.471-89G>A (n.471-89G>A) c.540-89G>A (n.540-89G>A) | gnomAD v4 |
1 | g.6474676_6474680delinsCACAG | CA1151507384 | PLEKHG5 | c.303-93_303-89delinsCTGTG (n.303-93_303-89delinsCTGTG) c.477-93_477-89delinsCTGTG (n.477-93_477-89delinsCTGTG) c.414-93_414-89delinsCTGTG (n.414-93_414-89delinsCTGTG) n.686_690delinsCTGTG c.510-93_510-89delinsCTGTG (n.510-93_510-89delinsCTGTG) c.600-93_600-89delinsCTGTG (n.600-93_600-89delinsCTGTG) c.*515-93_*515-89delinsCTGTG (n.*515-93_*515-89delinsCTGTG) c.*131-93_*131-89delinsCTGTG (n.*131-93_*131-89delinsCTGTG) c.264+17_264+21delinsCTGTG (n.264+17_264+21delinsCTGTG) c.534-93_534-89delinsCTGTG (n.534-93_534-89delinsCTGTG) c.471-93_471-89delinsCTGTG (n.471-93_471-89delinsCTGTG) c.540-93_540-89delinsCTGTG (n.540-93_540-89delinsCTGTG) | |
1 | g.6474677del | CA998179308 | PLEKHG5 | c.303-90del (n.303-90del) c.477-90del (n.477-90del) c.414-90del (n.414-90del) n.689del c.510-90del (n.510-90del) c.600-90del (n.600-90del) c.*515-90del (n.*515-90del) c.*131-90del (n.*131-90del) c.264+20del (n.264+20del) c.534-90del (n.534-90del) c.471-90del (n.471-90del) c.540-90del (n.540-90del) | gnomAD v3 gnomAD v4 |
1 | g.6474677A= | CA1151507392 | PLEKHG5 | c.303-90T= (n.303-90T=) c.477-90T= (n.477-90T=) c.414-90T= (n.414-90T=) n.689T= c.510-90T= (n.510-90T=) c.600-90T= (n.600-90T=) c.*515-90T= (n.*515-90T=) c.*131-90T= (n.*131-90T=) c.264+20T= (n.264+20T=) c.534-90T= (n.534-90T=) c.471-90T= (n.471-90T=) c.540-90T= (n.540-90T=) | |
1 | g.6474677A>C | CA520766041 | PLEKHG5 | c.303-90T>G (n.303-90T>G) c.477-90T>G (n.477-90T>G) c.414-90T>G (n.414-90T>G) n.689T>G c.510-90T>G (n.510-90T>G) c.600-90T>G (n.600-90T>G) c.*515-90T>G (n.*515-90T>G) c.*131-90T>G (n.*131-90T>G) c.264+20T>G (n.264+20T>G) c.534-90T>G (n.534-90T>G) c.471-90T>G (n.471-90T>G) c.540-90T>G (n.540-90T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474677A>T | CA998179307 | PLEKHG5 | c.303-90T>A (n.303-90T>A) c.477-90T>A (n.477-90T>A) c.414-90T>A (n.414-90T>A) n.689T>A c.510-90T>A (n.510-90T>A) c.600-90T>A (n.600-90T>A) c.*515-90T>A (n.*515-90T>A) c.*131-90T>A (n.*131-90T>A) c.264+20T>A (n.264+20T>A) c.534-90T>A (n.534-90T>A) c.471-90T>A (n.471-90T>A) c.540-90T>A (n.540-90T>A) | gnomAD v3 gnomAD v4 |
1 | g.6474677_6474680del | CA520766040 | PLEKHG5 | c.303-93_303-90del (n.303-93_303-90del) c.477-93_477-90del (n.477-93_477-90del) c.414-93_414-90del (n.414-93_414-90del) n.686_689del c.510-93_510-90del (n.510-93_510-90del) c.600-93_600-90del (n.600-93_600-90del) c.*515-93_*515-90del (n.*515-93_*515-90del) c.*131-93_*131-90del (n.*131-93_*131-90del) c.264+17_264+20del (n.264+17_264+20del) c.534-93_534-90del (n.534-93_534-90del) c.471-93_471-90del (n.471-93_471-90del) c.540-93_540-90del (n.540-93_540-90del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474677_6474689del | CA2642980080 | PLEKHG5 | c.303-102_303-90del (n.303-102_303-90del) c.477-102_477-90del (n.477-102_477-90del) c.414-102_414-90del (n.414-102_414-90del) n.677_689del c.510-102_510-90del (n.510-102_510-90del) c.600-102_600-90del (n.600-102_600-90del) c.*515-102_*515-90del (n.*515-102_*515-90del) c.*131-102_*131-90del (n.*131-102_*131-90del) c.264+8_264+20del (n.264+8_264+20del) c.534-102_534-90del (n.534-102_534-90del) c.471-102_471-90del (n.471-102_471-90del) c.540-102_540-90del (n.540-102_540-90del) | gnomAD v4 |
1 | g.6474678C= | CA1151507405 | PLEKHG5 | c.303-91G= (n.303-91G=) c.477-91G= (n.477-91G=) c.414-91G= (n.414-91G=) n.688G= c.510-91G= (n.510-91G=) c.600-91G= (n.600-91G=) c.*515-91G= (n.*515-91G=) c.*131-91G= (n.*131-91G=) c.264+19G= (n.264+19G=) c.534-91G= (n.534-91G=) c.471-91G= (n.471-91G=) c.540-91G= (n.540-91G=) | |
1 | g.6474678C>T | CA1151507406 | PLEKHG5 | c.303-91G>A (n.303-91G>A) c.477-91G>A (n.477-91G>A) c.414-91G>A (n.414-91G>A) n.688G>A c.510-91G>A (n.510-91G>A) c.600-91G>A (n.600-91G>A) c.*515-91G>A (n.*515-91G>A) c.*131-91G>A (n.*131-91G>A) c.264+19G>A (n.264+19G>A) c.534-91G>A (n.534-91G>A) c.471-91G>A (n.471-91G>A) c.540-91G>A (n.540-91G>A) | dbSNP gnomAD v4 |
1 | g.6474678_6474680delinsCAG | CA1151507404 | PLEKHG5 | c.303-93_303-91delinsCTG (n.303-93_303-91delinsCTG) c.477-93_477-91delinsCTG (n.477-93_477-91delinsCTG) c.414-93_414-91delinsCTG (n.414-93_414-91delinsCTG) n.686_688delinsCTG c.510-93_510-91delinsCTG (n.510-93_510-91delinsCTG) c.600-93_600-91delinsCTG (n.600-93_600-91delinsCTG) c.*515-93_*515-91delinsCTG (n.*515-93_*515-91delinsCTG) c.*131-93_*131-91delinsCTG (n.*131-93_*131-91delinsCTG) c.264+17_264+19delinsCTG (n.264+17_264+19delinsCTG) c.534-93_534-91delinsCTG (n.534-93_534-91delinsCTG) c.471-93_471-91delinsCTG (n.471-93_471-91delinsCTG) c.540-93_540-91delinsCTG (n.540-93_540-91delinsCTG) | |
1 | g.6474679A= | CA1151507409 | PLEKHG5 | c.303-92T= (n.303-92T=) c.477-92T= (n.477-92T=) c.414-92T= (n.414-92T=) n.687T= c.510-92T= (n.510-92T=) c.600-92T= (n.600-92T=) c.*515-92T= (n.*515-92T=) c.*131-92T= (n.*131-92T=) c.264+18T= (n.264+18T=) c.534-92T= (n.534-92T=) c.471-92T= (n.471-92T=) c.540-92T= (n.540-92T=) | |
1 | g.6474679A>C | CA520766043 | PLEKHG5 | c.303-92T>G (n.303-92T>G) c.477-92T>G (n.477-92T>G) c.414-92T>G (n.414-92T>G) n.687T>G c.510-92T>G (n.510-92T>G) c.600-92T>G (n.600-92T>G) c.*515-92T>G (n.*515-92T>G) c.*131-92T>G (n.*131-92T>G) c.264+18T>G (n.264+18T>G) c.534-92T>G (n.534-92T>G) c.471-92T>G (n.471-92T>G) c.540-92T>G (n.540-92T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474679A>G | CA2642980096 | PLEKHG5 | c.303-92T>C (n.303-92T>C) c.477-92T>C (n.477-92T>C) c.414-92T>C (n.414-92T>C) n.687T>C c.510-92T>C (n.510-92T>C) c.600-92T>C (n.600-92T>C) c.*515-92T>C (n.*515-92T>C) c.*131-92T>C (n.*131-92T>C) c.264+18T>C (n.264+18T>C) c.534-92T>C (n.534-92T>C) c.471-92T>C (n.471-92T>C) c.540-92T>C (n.540-92T>C) | gnomAD v4 |
1 | g.6474679_6474680del | CA520766042 | PLEKHG5 | c.303-93_303-92del (n.303-93_303-92del) c.477-93_477-92del (n.477-93_477-92del) c.414-93_414-92del (n.414-93_414-92del) n.686_687del c.510-93_510-92del (n.510-93_510-92del) c.600-93_600-92del (n.600-93_600-92del) c.*515-93_*515-92del (n.*515-93_*515-92del) c.*131-93_*131-92del (n.*131-93_*131-92del) c.264+17_264+18del (n.264+17_264+18del) c.534-93_534-92del (n.534-93_534-92del) c.471-93_471-92del (n.471-93_471-92del) c.540-93_540-92del (n.540-93_540-92del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474680G>A | CA913210028 | PLEKHG5 | c.303-93C>T (n.303-93C>T) c.477-93C>T (n.477-93C>T) c.414-93C>T (n.414-93C>T) n.686C>T c.510-93C>T (n.510-93C>T) c.600-93C>T (n.600-93C>T) c.*515-93C>T (n.*515-93C>T) c.*131-93C>T (n.*131-93C>T) c.264+17C>T (n.264+17C>T) c.534-93C>T (n.534-93C>T) c.471-93C>T (n.471-93C>T) c.540-93C>T (n.540-93C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474680G>C | CA520766044 | PLEKHG5 | c.303-93C>G (n.303-93C>G) c.477-93C>G (n.477-93C>G) c.414-93C>G (n.414-93C>G) n.686C>G c.510-93C>G (n.510-93C>G) c.600-93C>G (n.600-93C>G) c.*515-93C>G (n.*515-93C>G) c.*131-93C>G (n.*131-93C>G) c.264+17C>G (n.264+17C>G) c.534-93C>G (n.534-93C>G) c.471-93C>G (n.471-93C>G) c.540-93C>G (n.540-93C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474680G= | CA1151507411 | PLEKHG5 | c.303-93C= (n.303-93C=) c.477-93C= (n.477-93C=) c.414-93C= (n.414-93C=) n.686C= c.510-93C= (n.510-93C=) c.600-93C= (n.600-93C=) c.*515-93C= (n.*515-93C=) c.*131-93C= (n.*131-93C=) c.264+17C= (n.264+17C=) c.534-93C= (n.534-93C=) c.471-93C= (n.471-93C=) c.540-93C= (n.540-93C=) | |
1 | g.6474680G>T | CA2642980104 | PLEKHG5 | c.303-93C>A (n.303-93C>A) c.477-93C>A (n.477-93C>A) c.414-93C>A (n.414-93C>A) n.686C>A c.510-93C>A (n.510-93C>A) c.600-93C>A (n.600-93C>A) c.*515-93C>A (n.*515-93C>A) c.*131-93C>A (n.*131-93C>A) c.264+17C>A (n.264+17C>A) c.534-93C>A (n.534-93C>A) c.471-93C>A (n.471-93C>A) c.540-93C>A (n.540-93C>A) | gnomAD v4 |
1 | g.6474681C>A | CA2574193737 | PLEKHG5 | c.303-94G>T (n.303-94G>T) c.477-94G>T (n.477-94G>T) c.414-94G>T (n.414-94G>T) n.685G>T c.510-94G>T (n.510-94G>T) c.600-94G>T (n.600-94G>T) c.*515-94G>T (n.*515-94G>T) c.*131-94G>T (n.*131-94G>T) c.264+16G>T (n.264+16G>T) c.534-94G>T (n.534-94G>T) c.471-94G>T (n.471-94G>T) c.540-94G>T (n.540-94G>T) | |
1 | g.6474681C>T | CA2574193738 | PLEKHG5 | c.303-94G>A (n.303-94G>A) c.477-94G>A (n.477-94G>A) c.414-94G>A (n.414-94G>A) n.685G>A c.510-94G>A (n.510-94G>A) c.600-94G>A (n.600-94G>A) c.*515-94G>A (n.*515-94G>A) c.*131-94G>A (n.*131-94G>A) c.264+16G>A (n.264+16G>A) c.534-94G>A (n.534-94G>A) c.471-94G>A (n.471-94G>A) c.540-94G>A (n.540-94G>A) | gnomAD v4 |
1 | g.6474684dup | CA520766045 | PLEKHG5 | c.303-94dup (n.303-94dup) c.477-94dup (n.477-94dup) c.414-94dup (n.414-94dup) n.685dup c.510-94dup (n.510-94dup) c.600-94dup (n.600-94dup) c.*515-94dup (n.*515-94dup) c.*131-94dup (n.*131-94dup) c.264+16dup (n.264+16dup) c.534-94dup (n.534-94dup) c.471-94dup (n.471-94dup) c.540-94dup (n.540-94dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474684del | CA2642980109 | PLEKHG5 | c.303-94del (n.303-94del) c.477-94del (n.477-94del) c.414-94del (n.414-94del) n.685del c.510-94del (n.510-94del) c.600-94del (n.600-94del) c.*515-94del (n.*515-94del) c.*131-94del (n.*131-94del) c.264+16del (n.264+16del) c.534-94del (n.534-94del) c.471-94del (n.471-94del) c.540-94del (n.540-94del) | gnomAD v4 |