Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44372113G>T | CA2638212991 | gnomAD v4 | ||
17 | g.44372114G>A | CA2809589654 | |||
17 | g.44372115T>C | CA2638212992 | gnomAD v4 | ||
17 | g.44372116C>A | CA2638212998 | gnomAD v4 | ||
17 | g.44372116C= | CA2261364218 | |||
17 | g.44372116C>G | CA2261364219 | dbSNP gnomAD v4 | ||
17 | g.44372116C>T | CA290942436 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
17 | g.44372119dup | CA2638212995 | gnomAD v4 | ||
17 | g.44372119del | CA2638212996 | gnomAD v4 | ||
17 | g.44372117C= | CA2261364220 | |||
17 | g.44372117C>T | CA772284328 | dbSNP gnomAD v3 gnomAD v4 | ||
17 | g.44372118C>A | CA2638213002 | gnomAD v4 | ||
17 | g.44372118C= | CA2261364221 | |||
17 | g.44372118C>T | CA290942440 | dbSNP | ||
17 | g.44372119C>A | CA772284330 | dbSNP gnomAD v3 gnomAD v4 | ||
17 | g.44372119C= | CA2261364222 | |||
17 | g.44372119C>T | CA626118830 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
17 | g.44372120G>A | CA290942441 | dbSNP gnomAD v4 | ||
17 | g.44372120G= | CA2261364223 | |||
17 | g.44372120G>T | CA2638213008 | gnomAD v4 | ||
17 | g.44372121T>C | CA2638213011 | gnomAD v4 | ||
17 | g.44372122C>A | CA2638213012 | gnomAD v4 | ||
17 | g.44372123C>A | CA2638213014 | gnomAD v4 | ||
17 | g.44372123C>G | CA2638213016 | gnomAD v4 | ||
17 | g.44372125A>G | CA2638213017 | gnomAD v4 | ||
17 | g.44372127A= | CA2261364224 | |||
17 | g.44372127A>G | CA2261364225 | dbSNP gnomAD v4 | ||
17 | g.44372128C>A | CA2638213018 | gnomAD v4 | ||
17 | g.44372128C>T | CA2638213019 | gnomAD v4 | ||
17 | g.44372130T>C | CA290942442 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
17 | g.44372130T= | CA2261364226 | |||
17 | g.44372131T>C | CA2638213023 | gnomAD v4 | ||
17 | g.44372132C>A | CA2638213028 | gnomAD v4 | ||
17 | g.44372133C>A | CA2638213029 | gnomAD v4 | ||
17 | g.44372133C= | CA2261364227 | |||
17 | g.44372133C>T | CA983993951 | dbSNP gnomAD v3 gnomAD v4 | ||
17 | g.44372134T>C | CA2638213031 | gnomAD v4 | ||
17 | g.44372135T>C | CA2638213032 | gnomAD v4 | ||
17 | g.44372136C= | CA2261364228 | |||
17 | g.44372136C>T | CA290942445 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
17 | g.44372137G>A | CA290942459 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
17 | g.44372137G>C | CA772284337 | dbSNP gnomAD v4 | ||
17 | g.44372137G= | CA2261364229 | |||
17 | g.44372137G>T | CA2638213037 | gnomAD v4 | ||
17 | g.44372138G>C | CA2638213039 | gnomAD v4 | ||
17 | g.44372139T>C | CA772284340 | dbSNP | ||
17 | g.44372139T= | CA2261364230 | |||
17 | g.44372140C>A | CA2638213040 | gnomAD v4 | ||
17 | g.44372141A>G | CA2594317822 | dbSNP gnomAD v3 gnomAD v4 | ||
17 | g.44372142T>C | CA2638213043 | gnomAD v4 | ||
17 | g.44372143C>A | CA2809589659 | |||
17 | g.44372143C>T | CA2638213047 | gnomAD v4 | ||
17 | g.44372145C>A | CA2638213049 | gnomAD v4 | ||
17 | g.44372145C= | CA2261364231 | |||
17 | g.44372145C>G | CA772284342 | dbSNP | ||
17 | g.44372146T>C | CA2594317823 | dbSNP gnomAD v3 gnomAD v4 | ||
17 | g.44372147T>C | CA2638213051 | gnomAD v4 | ||
17 | g.44372148C>A | CA2638213054 | gnomAD v4 | ||
17 | g.44372148C= | CA2261364232 | |||
17 | g.44372148C>T | CA290942464 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
17 | g.44372148_44372150del | CA2638213053 | gnomAD v4 | ||
17 | g.44372150C>A | CA2638213060 | gnomAD v4 | ||
17 | g.44372150C>G | CA2638213058 | gnomAD v4 | ||
17 | g.44372151T>C | CA2638213061 | gnomAD v4 | ||
17 | g.44372152G>C | CA2638213062 | gnomAD v4 | ||
17 | g.44372152G>T | CA2638213063 | gnomAD v4 | ||
17 | g.44372153G>A | CA2638213066 | gnomAD v4 | ||
17 | g.44372153G>T | CA2638213067 | gnomAD v4 | ||
17 | g.44372154C>A | CA290942469 | dbSNP gnomAD v4 | ||
17 | g.44372154C= | CA2261364233 | |||
17 | g.44372154C>T | CA2638213071 | gnomAD v4 | ||
17 | g.44372155C>A | CA2638213074 | gnomAD v4 | ||
17 | g.44372155C= | CA2261364234 | |||
17 | g.44372155C>G | CA2638213075 | gnomAD v4 | ||
17 | g.44372155C>T | CA772284344 | dbSNP gnomAD v3 gnomAD v4 | ||
17 | g.44372156C>A | CA2638213080 | gnomAD v4 | ||
17 | g.44372157C>T | CA2638213081 | gnomAD v4 | ||
17 | g.44372158A= | CA2261364235 | |||
17 | g.44372158A>C | CA290942473 | dbSNP gnomAD v3 gnomAD v4 | ||
17 | g.44372158A>G | CA2638213086 | gnomAD v4 | ||
17 | g.44372158A>T | CA290942476 | dbSNP gnomAD v3 gnomAD v4 | ||
17 | g.44372161del | CA2638213088 | gnomAD v4 | ||
17 | g.44372159A= | CA2261364236 | |||
17 | g.44372159A>G | CA2261364237 | dbSNP gnomAD v4 | ||
17 | g.44372160A>G | CA2638213091 | gnomAD v4 | ||
17 | g.44372160_44372163delinsAAGG | CA2261364238 | |||
17 | g.44372161A>G | CA2638213094 | gnomAD v4 | ||
17 | g.44372164_44372166del | CA2261364239 | dbSNP | ||
17 | g.44372162G>A | CA2638213097 | gnomAD v4 | ||
17 | g.44372162G= | CA2261364240 | |||
17 | g.44372162G>T | CA2261364241 | dbSNP | ||
17 | g.44372163G>T | CA2638213098 | gnomAD v4 | ||
17 | g.44372164A>G | CA2638213099 | gnomAD v4 | ||
17 | g.44372165G>A | CA2638213102 | gnomAD v4 | ||
17 | g.44372165G>T | CA2638213103 | gnomAD v4 | ||
17 | g.44372166G>A | CA2261364243 | dbSNP | ||
17 | g.44372166G>C | CA500260065 | |||
17 | g.44372166G= | CA2261364242 | |||
17 | g.44372166G>T | CA2638213104 | gnomAD v4 | ||
17 | g.44372167C>A | CA2638213106 | gnomAD v4 | ||
17 | g.44372167C>T | CA2638213107 | gnomAD v4 | ||
17 | g.44372168A>C | CA2638213108 | gnomAD v4 | ||
17 | g.44372168A>G | CA2638213109 | gnomAD v4 | ||
17 | g.44372168A>T | CA2638213110 | gnomAD v4 | ||
17 | g.44372169G>A | CA290942477 | dbSNP gnomAD v3 gnomAD v4 | ||
17 | g.44372169G= | CA2261364244 | |||
17 | g.44372170C>A | CA2638213115 | gnomAD v4 | ||
17 | g.44372170C>T | CA2638213114 | gnomAD v4 | ||
17 | g.44372171A= | CA2261364245 | |||
17 | g.44372171A>G | CA290942482 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
17 | g.44372171A>T | CA2638213117 | gnomAD v4 | ||
17 | g.44372172T>A | CA2638213119 | gnomAD v4 | ||
17 | g.44372172T>G | CA2638213120 | gnomAD v4 | ||
17 | g.44372173G>T | CA2638213122 | gnomAD v4 | ||
17 | g.44372174C>T | CA2638213123 | gnomAD v4 | ||
17 | g.44372175T>C | CA2261364247 | dbSNP gnomAD v4 | ||
17 | g.44372175T>G | CA2261364248 | dbSNP | ||
17 | g.44372175T= | CA2261364246 | |||
17 | g.44372175_44372178dup | CA2638213124 | gnomAD v4 | ||
17 | g.44372176C>A | CA2638213127 | gnomAD v4 | ||
17 | g.44372176C>T | CA2638213129 | gnomAD v4 | ||
17 | g.44372178G>C | CA290942489 | dbSNP gnomAD v3 gnomAD v4 | ||
17 | g.44372178G= | CA2261364249 | |||
17 | g.44372178G>T | CA2638213130 | gnomAD v4 | ||
17 | g.44372179C>A | CA2638213131 | gnomAD v4 | ||
17 | g.44372181T>C | CA2638213133 | ITGA2B | c.*183A>G (n.*183A>G) c.2617A>G c.496A>G c.280A>G | gnomAD v4 |
17 | g.44372182C>A | CA2638213137 | ITGA2B | c.*182G>T (n.*182G>T) c.2616G>T c.495G>T c.279G>T | gnomAD v4 |
17 | g.44372182C>T | CA2638213136 | ITGA2B | c.*182G>A (n.*182G>A) c.2616G>A c.495G>A c.279G>A | gnomAD v4 |
17 | g.44372183A= | CA2261364250 | ITGA2B | c.*181T= (n.*181T=) c.2615T= c.494T= c.278T= | |
17 | g.44372183A>G | CA290942499 | ITGA2B | c.*181T>C (n.*181T>C) c.2615T>C c.494T>C c.278T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372183A>T | CA2638213138 | ITGA2B | c.*181T>A (n.*181T>A) c.2615T>A c.494T>A c.278T>A | gnomAD v4 |
17 | g.44372185G>C | CA626118831 | ITGA2B | c.*179C>G (n.*179C>G) c.2613C>G c.492C>G c.276C>G | dbSNP gnomAD v2 |
17 | g.44372185G= | CA2261364251 | ITGA2B | c.*179C= (n.*179C=) c.2613C= c.492C= c.276C= | |
17 | g.44372185G>T | CA2638213140 | ITGA2B | c.*179C>A (n.*179C>A) c.2613C>A c.492C>A c.276C>A | gnomAD v4 |
17 | g.44372186G>A | CA2638213141 | ITGA2B | c.*178C>T (n.*178C>T) c.2612C>T c.491C>T c.275C>T | gnomAD v4 |
17 | g.44372186G>T | CA2638213142 | ITGA2B | c.*178C>A (n.*178C>A) c.2612C>A c.491C>A c.275C>A | gnomAD v4 |
17 | g.44372187del | CA2638213143 | ITGA2B | c.*177del (n.*177del) c.2611del c.490del c.274del | gnomAD v4 |
17 | g.44372187C>A | CA2638213145 | ITGA2B | c.*177G>T (n.*177G>T) c.2611G>T c.490G>T c.274G>T | gnomAD v4 |
17 | g.44372187C>G | CA2638213146 | ITGA2B | c.*177G>C (n.*177G>C) c.2611G>C c.490G>C c.274G>C | gnomAD v4 |
17 | g.44372188T>C | CA2638213148 | ITGA2B | c.*176A>G (n.*176A>G) c.2610A>G c.489A>G c.273A>G | gnomAD v4 |
17 | g.44372189C>A | CA2638213149 | ITGA2B | c.*175G>T (n.*175G>T) c.2609G>T c.488G>T c.272G>T | gnomAD v4 |
17 | g.44372190A>G | CA2638213150 | ITGA2B | c.*174T>C (n.*174T>C) c.2608T>C c.487T>C c.271T>C | gnomAD v4 |
17 | g.44372191G>T | CA2638213152 | ITGA2B | c.*173C>A (n.*173C>A) c.2607C>A c.486C>A c.270C>A | gnomAD v4 |
17 | g.44372192T>C | CA2638213155 | ITGA2B | c.*172A>G (n.*172A>G) c.2606A>G c.485A>G c.269A>G | gnomAD v4 |
17 | g.44372193C>A | CA2638213156 | ITGA2B | c.*171G>T (n.*171G>T) c.2605G>T c.484G>T c.268G>T | gnomAD v4 |
17 | g.44372193C= | CA2261364252 | ITGA2B | c.*171G= (n.*171G=) c.2605G= c.484G= c.268G= | |
17 | g.44372193C>T | CA290942504 | ITGA2B | c.*171G>A (n.*171G>A) c.2605G>A c.484G>A c.268G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372195C>A | CA2638213160 | ITGA2B | c.*169G>T (n.*169G>T) c.2603G>T c.482G>T c.266G>T | gnomAD v4 |
17 | g.44372195C= | CA2261364253 | ITGA2B | c.*169G= (n.*169G=) c.2603G= c.482G= c.266G= | |
17 | g.44372195C>G | CA290942507 | ITGA2B | c.*169G>C (n.*169G>C) c.2603G>C c.482G>C c.266G>C | dbSNP gnomAD v4 |
17 | g.44372198T>C | CA2638213166 | ITGA2B | c.*166A>G (n.*166A>G) c.2600A>G c.479A>G c.263A>G | gnomAD v4 |
17 | g.44372199A>C | CA2638213167 | ITGA2B | c.*165T>G (n.*165T>G) c.2599T>G c.478T>G c.262T>G | gnomAD v4 |
17 | g.44372199A>G | CA915940530 | ITGA2B | c.*165T>C (n.*165T>C) c.2599T>C c.478T>C c.262T>C | ClinVar dbSNP |
17 | g.44372200T>A | CA2809589660 | ITGA2B | c.*164A>T (n.*164A>T) c.2598A>T c.477A>T c.261A>T | |
17 | g.44372200T>G | CA2638213169 | ITGA2B | c.*164A>C (n.*164A>C) c.2598A>C c.477A>C c.261A>C | gnomAD v4 |
17 | g.44372201T>G | CA772284363 | ITGA2B | c.*163A>C (n.*163A>C) c.2597A>C c.476A>C c.260A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372201T= | CA2261364254 | ITGA2B | c.*163A= (n.*163A=) c.2597A= c.476A= c.260A= | |
17 | g.44372202A>G | CA2638213170 | ITGA2B | c.*162T>C (n.*162T>C) c.2596T>C c.475T>C c.259T>C | gnomAD v4 |
17 | g.44372202A>T | CA2638213171 | ITGA2B | c.*162T>A (n.*162T>A) c.2596T>A c.475T>A c.259T>A | gnomAD v4 |
17 | g.44372204G>A | CA290942517 | ITGA2B | c.*160C>T (n.*160C>T) c.2594C>T c.473C>T c.257C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372204G= | CA2261364255 | ITGA2B | c.*160C= (n.*160C=) c.2594C= c.473C= c.257C= | |
17 | g.44372204G>T | CA2638213174 | ITGA2B | c.*160C>A (n.*160C>A) c.2594C>A c.473C>A c.257C>A | gnomAD v4 |
17 | g.44372205C>A | CA2638213175 | ITGA2B | c.*159G>T (n.*159G>T) c.2593G>T c.472G>T c.256G>T | gnomAD v4 |
17 | g.44372205C>G | CA2638213176 | ITGA2B | c.*159G>C (n.*159G>C) c.2593G>C c.472G>C c.256G>C | gnomAD v4 |
17 | g.44372205C>T | CA2638213177 | ITGA2B | c.*159G>A (n.*159G>A) c.2593G>A c.472G>A c.256G>A | gnomAD v4 |
17 | g.44372206A= | CA2261364256 | ITGA2B | c.*158T= (n.*158T=) c.2592T= c.471T= c.255T= | |
17 | g.44372206A>C | CA2261364257 | ITGA2B | c.*158T>G (n.*158T>G) c.2592T>G c.471T>G c.255T>G | dbSNP |
17 | g.44372207G>T | CA2638213178 | ITGA2B | c.*157C>A (n.*157C>A) c.2591C>A c.470C>A c.254C>A | gnomAD v4 |
17 | g.44372208C>A | CA2638213181 | ITGA2B | c.*156G>T (n.*156G>T) c.2590G>T c.469G>T c.253G>T | gnomAD v4 |
17 | g.44372208C>T | CA2638213180 | ITGA2B | c.*156G>A (n.*156G>A) c.2590G>A c.469G>A c.253G>A | gnomAD v4 |
17 | g.44372209A= | CA2261364258 | ITGA2B | c.*155T= (n.*155T=) c.2589T= c.468T= c.252T= | |
17 | g.44372209A>C | CA2261364259 | ITGA2B | c.*155T>G (n.*155T>G) c.2589T>G c.468T>G c.252T>G | dbSNP |
17 | g.44372209A>G | CA2638213184 | ITGA2B | c.*155T>C (n.*155T>C) c.2589T>C c.468T>C c.252T>C | gnomAD v4 |
17 | g.44372210G>T | CA2638213187 | ITGA2B | c.*154C>A (n.*154C>A) c.2588C>A c.467C>A c.251C>A | gnomAD v4 |
17 | g.44372211G>A | CA2638213188 | ITGA2B | c.*153C>T (n.*153C>T) c.2587C>T c.466C>T c.250C>T | gnomAD v4 |
17 | g.44372211G>C | CA626118832 | ITGA2B | c.*153C>G (n.*153C>G) c.2587C>G c.466C>G c.250C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372211G= | CA2261364260 | ITGA2B | c.*153C= (n.*153C=) c.2587C= c.466C= c.250C= | |
17 | g.44372211G>T | CA2638213190 | ITGA2B | c.*153C>A (n.*153C>A) c.2587C>A c.466C>A c.250C>A | gnomAD v4 |
17 | g.44372212A>G | CA2638213195 | ITGA2B | c.*152T>C (n.*152T>C) c.2586T>C c.465T>C c.249T>C | gnomAD v4 |
17 | g.44372212A>T | CA2638213197 | ITGA2B | c.*152T>A (n.*152T>A) c.2586T>A c.465T>A c.249T>A | gnomAD v4 |
17 | g.44372212dup | CA2261364261 | ITGA2B | c.*152dup (n.*152dup) c.2586dup c.465dup c.249dup | dbSNP |
17 | g.44372212_44372213delinsAG | CA2261364262 | ITGA2B | c.*151_*152delinsCT (n.*151_*152delinsCT) c.2585_2586delinsCT c.464_465delinsCT c.248_249delinsCT | |
17 | g.44372213G>A | CA290942525 | ITGA2B | c.*151C>T (n.*151C>T) c.2585C>T c.464C>T c.248C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372213G>C | CA290942530 | ITGA2B | c.*151C>G (n.*151C>G) c.2585C>G c.464C>G c.248C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372213G= | CA2261364263 | ITGA2B | c.*151C= (n.*151C=) c.2585C= c.464C= c.248C= | |
17 | g.44372213G>T | CA500260073 | ITGA2B | c.*151C>A (n.*151C>A) c.2585C>A c.464C>A c.248C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372219dup | CA290942523 | ITGA2B | c.*151dup (n.*151dup) c.2585dup c.464dup c.248dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372218_44372219dup | CA2638213208 | ITGA2B | c.*150_*151dup (n.*150_*151dup) c.2584_2585dup c.463_464dup c.247_248dup | gnomAD v4 |
17 | g.44372217_44372219dup | CA2638213207 | ITGA2B | c.*149_*151dup (n.*149_*151dup) c.2583_2585dup c.462_464dup c.246_248dup | gnomAD v4 |
17 | g.44372219del | CA772284372 | ITGA2B | c.*151del (n.*151del) c.2585del c.464del c.248del | dbSNP gnomAD v3 gnomAD v4 |