Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.91313411_91313430del | CA2626130817 | CCDC88C | c.2387_2406del (p.Arg796ProfsTer?) c.2279_2298del (p.Arg760ProfsTer?) n.2515_2534del n.2513_2532del | gnomAD v4 |
14 | g.91313429C>A | CA390630166 | CCDC88C | c.2387G>T (p.Arg796Leu) c.2279G>T (p.Arg760Leu) n.2515G>T n.2513G>T | |
14 | g.91313429C= | CA2154878856 | CCDC88C | c.2387G= (p.Arg796=) c.2279G= (p.Arg760=) n.2515G= n.2513G= | |
14 | g.91313429C>G | CA7309673 | CCDC88C | c.2387G>C (p.Arg796Pro) c.2279G>C (p.Arg760Pro) n.2515G>C n.2513G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313429C>T | CA7309672 | CCDC88C | c.2387G>A (p.Arg796His) c.2279G>A (p.Arg760His) n.2515G>A n.2513G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313430G>A | CA7309674 | CCDC88C | c.2386C>T (p.Arg796Cys) c.2278C>T (p.Arg760Cys) n.2514C>T n.2512C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.91313430G>C | CA390630171 | CCDC88C | c.2386C>G (p.Arg796Gly) c.2278C>G (p.Arg760Gly) n.2514C>G n.2512C>G | |
14 | g.91313430G= | CA2154878859 | CCDC88C | c.2386C= (p.Arg796=) c.2278C= (p.Arg760=) n.2514C= n.2512C= | |
14 | g.91313430G>T | CA390630173 | CCDC88C | c.2386C>A (p.Arg796Ser) c.2278C>A (p.Arg760Ser) n.2514C>A n.2512C>A | gnomAD v4 |
14 | g.91313431C>A | CA390630175 | CCDC88C | c.2385G>T (p.Glu795Asp) c.2277G>T (p.Glu759Asp) n.2513G>T n.2511G>T | |
14 | g.91313431C= | CA2154878863 | CCDC88C | c.2385G= (p.Glu795=) c.2277G= (p.Glu759=) n.2513G= n.2511G= | |
14 | g.91313431C>G | CA390630176 | CCDC88C | c.2385G>C (p.Glu795Asp) c.2277G>C (p.Glu759Asp) n.2513G>C n.2511G>C | |
14 | g.91313431C>T | CA487829628 | CCDC88C | c.2385G>A (p.Glu795=) c.2277G>A (p.Glu759=) n.2513G>A n.2511G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313432T>A | CA390630179 | CCDC88C | c.2384A>T (p.Glu795Val) c.2276A>T (p.Glu759Val) n.2512A>T n.2510A>T | |
14 | g.91313432T>C | CA390630180 | CCDC88C | c.2384A>G (p.Glu795Gly) c.2276A>G (p.Glu759Gly) n.2512A>G n.2510A>G | |
14 | g.91313432T>G | CA390630182 | CCDC88C | c.2384A>C (p.Glu795Ala) c.2276A>C (p.Glu759Ala) n.2512A>C n.2510A>C | |
14 | g.91313433C>A | CA390630187 | CCDC88C | c.2383G>T (p.Glu795Ter) c.2275G>T (p.Glu759Ter) n.2511G>T n.2509G>T | |
14 | g.91313433C>G | CA390630184 | CCDC88C | c.2383G>C (p.Glu795Gln) c.2275G>C (p.Glu759Gln) n.2511G>C n.2509G>C | |
14 | g.91313433C>T | CA390630186 | CCDC88C | c.2383G>A (p.Glu795Lys) c.2275G>A (p.Glu759Lys) n.2511G>A n.2509G>A | |
14 | g.91313434A= | CA2154878865 | CCDC88C | c.2382T= (p.Ala794=) c.2274T= (p.Ala758=) n.2510T= n.2508T= | |
14 | g.91313434A>C | CA487829629 | CCDC88C | c.2382T>G (p.Ala794=) c.2274T>G (p.Ala758=) n.2510T>G n.2508T>G | |
14 | g.91313434A>G | CA7309675 | CCDC88C | c.2382T>C (p.Ala794=) c.2274T>C (p.Ala758=) n.2510T>C n.2508T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313434A>T | CA487829630 | CCDC88C | c.2382T>A (p.Ala794=) c.2274T>A (p.Ala758=) n.2510T>A n.2508T>A | |
14 | g.91313435G>A | CA390630189 | CCDC88C | c.2381C>T (p.Ala794Val) c.2273C>T (p.Ala758Val) n.2509C>T n.2507C>T | COSMIC COSMIC |
14 | g.91313435G>C | CA390630191 | CCDC88C | c.2381C>G (p.Ala794Gly) c.2273C>G (p.Ala758Gly) n.2509C>G n.2507C>G | dbSNP |
14 | g.91313435G= | CA2154878867 | CCDC88C | c.2381C= (p.Ala794=) c.2273C= (p.Ala758=) n.2509C= n.2507C= | |
14 | g.91313435G>T | CA390630193 | CCDC88C | c.2381C>A (p.Ala794Asp) c.2273C>A (p.Ala758Asp) n.2509C>A n.2507C>A | gnomAD v4 |
14 | g.91313436C>A | CA390630195 | CCDC88C | c.2380G>T (p.Ala794Ser) c.2272G>T (p.Ala758Ser) n.2508G>T n.2506G>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313436C= | CA2154878869 | CCDC88C | c.2380G= (p.Ala794=) c.2272G= (p.Ala758=) n.2508G= n.2506G= | |
14 | g.91313436C>G | CA390630197 | CCDC88C | c.2380G>C (p.Ala794Pro) c.2272G>C (p.Ala758Pro) n.2508G>C n.2506G>C | |
14 | g.91313436C>T | CA390630199 | CCDC88C | c.2380G>A (p.Ala794Thr) c.2272G>A (p.Ala758Thr) n.2508G>A n.2506G>A | gnomAD v4 |
14 | g.91313437C>A | CA390630201 | CCDC88C | c.2379G>T (p.Glu793Asp) c.2271G>T (p.Glu757Asp) n.2507G>T n.2505G>T | |
14 | g.91313437C>G | CA390630202 | CCDC88C | c.2379G>C (p.Glu793Asp) c.2271G>C (p.Glu757Asp) n.2507G>C n.2505G>C | |
14 | g.91313437C>T | CA487829679 | CCDC88C | c.2379G>A (p.Glu793=) c.2271G>A (p.Glu757=) n.2507G>A n.2505G>A | |
14 | g.91313438del | CA645592830 | CCDC88C | c.2378del (p.Glu793GlyfsTer?) c.2270del (p.Glu757GlyfsTer?) n.2506del n.2504del | COSMIC COSMIC |
14 | g.91313438T>A | CA390630205 | CCDC88C | c.2378A>T (p.Glu793Val) c.2270A>T (p.Glu757Val) n.2506A>T n.2504A>T | |
14 | g.91313438T>C | CA390630207 | CCDC88C | c.2378A>G (p.Glu793Gly) c.2270A>G (p.Glu757Gly) n.2506A>G n.2504A>G | gnomAD v4 |
14 | g.91313438T>G | CA390630208 | CCDC88C | c.2378A>C (p.Glu793Ala) c.2270A>C (p.Glu757Ala) n.2506A>C n.2504A>C | |
14 | g.91313439C>A | CA390630213 | CCDC88C | c.2377G>T (p.Glu793Ter) c.2269G>T (p.Glu757Ter) n.2505G>T n.2503G>T | |
14 | g.91313439C>G | CA390630214 | CCDC88C | c.2377G>C (p.Glu793Gln) c.2269G>C (p.Glu757Gln) n.2505G>C n.2503G>C | |
14 | g.91313439C>T | CA390630211 | CCDC88C | c.2377G>A (p.Glu793Lys) c.2269G>A (p.Glu757Lys) n.2505G>A n.2503G>A | |
14 | g.91313440C>A | CA487829681 | CCDC88C | c.2376G>T (p.Leu792=) c.2268G>T (p.Leu756=) n.2504G>T n.2502G>T | |
14 | g.91313440C>G | CA487829682 | CCDC88C | c.2376G>C (p.Leu792=) c.2268G>C (p.Leu756=) n.2504G>C n.2502G>C | |
14 | g.91313440C>T | CA487829683 | CCDC88C | c.2376G>A (p.Leu792=) c.2268G>A (p.Leu756=) n.2504G>A n.2502G>A | COSMIC COSMIC |
14 | g.91313441del | CA2626130890 | CCDC88C | c.2375del (p.Leu792ArgfsTer?) c.2267del (p.Leu756ArgfsTer?) n.2503del n.2501del | gnomAD v4 |
14 | g.91313441A= | CA2154878872 | CCDC88C | c.2375T= (p.Leu792=) c.2267T= (p.Leu756=) n.2503T= n.2501T= | |
14 | g.91313441A>C | CA390630217 | CCDC88C | c.2375T>G (p.Leu792Arg) c.2267T>G (p.Leu756Arg) n.2503T>G n.2501T>G | |
14 | g.91313441A>G | CA390630220 | CCDC88C | c.2375T>C (p.Leu792Pro) c.2267T>C (p.Leu756Pro) n.2503T>C n.2501T>C | dbSNP gnomAD v4 |
14 | g.91313441A>T | CA390630219 | CCDC88C | c.2375T>A (p.Leu792Gln) c.2267T>A (p.Leu756Gln) n.2503T>A n.2501T>A | |
14 | g.91313441_91313442insACCAA | CA2802582089 | CCDC88C | c.2375_2376insTGGTT (p.Glu793GlyfsTer?) c.2267_2268insTGGTT (p.Glu757GlyfsTer?) n.2503_2504insTGGTT n.2501_2502insTGGTT | |
14 | g.91313442G>A | CA7309676 | CCDC88C | c.2374C>T (p.Leu792=) c.2266C>T (p.Leu756=) n.2502C>T n.2500C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313442G>C | CA390630224 | CCDC88C | c.2374C>G (p.Leu792Val) c.2266C>G (p.Leu756Val) n.2502C>G n.2500C>G | |
14 | g.91313442G= | CA2154878874 | CCDC88C | c.2374C= (p.Leu792=) c.2266C= (p.Leu756=) n.2502C= n.2500C= | |
14 | g.91313442G>T | CA390630225 | CCDC88C | c.2374C>A (p.Leu792Met) c.2266C>A (p.Leu756Met) n.2502C>A n.2500C>A | gnomAD v4 |
14 | g.91313443C>A | CA390630226 | CCDC88C | c.2373G>T (p.Glu791Asp) c.2265G>T (p.Glu755Asp) n.2501G>T n.2499G>T | |
14 | g.91313443C>G | CA390630228 | CCDC88C | c.2373G>C (p.Glu791Asp) c.2265G>C (p.Glu755Asp) n.2501G>C n.2499G>C | |
14 | g.91313443C>T | CA487829685 | CCDC88C | c.2373G>A (p.Glu791=) c.2265G>A (p.Glu755=) n.2501G>A n.2499G>A | ClinVar gnomAD v4 |
14 | g.91313444T>A | CA390630231 | CCDC88C | c.2372A>T (p.Glu791Val) c.2264A>T (p.Glu755Val) n.2500A>T n.2498A>T | |
14 | g.91313444T>C | CA390630233 | CCDC88C | c.2372A>G (p.Glu791Gly) c.2264A>G (p.Glu755Gly) n.2500A>G n.2498A>G | |
14 | g.91313444T>G | CA390630235 | CCDC88C | c.2372A>C (p.Glu791Ala) c.2264A>C (p.Glu755Ala) n.2500A>C n.2498A>C | |
14 | g.91313445C>A | CA390630238 | CCDC88C | c.2371G>T (p.Glu791Ter) c.2263G>T (p.Glu755Ter) n.2499G>T n.2497G>T | gnomAD v4 |
14 | g.91313445C= | CA2154878876 | CCDC88C | c.2371G= (p.Glu791=) c.2263G= (p.Glu755=) n.2499G= n.2497G= | |
14 | g.91313445C>G | CA390630240 | CCDC88C | c.2371G>C (p.Glu791Gln) c.2263G>C (p.Glu755Gln) n.2499G>C n.2497G>C | |
14 | g.91313445C>T | CA7309677 | CCDC88C | c.2371G>A (p.Glu791Lys) c.2263G>A (p.Glu755Lys) n.2499G>A n.2497G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313446G>A | CA7309678 | CCDC88C | c.2370C>T (p.Gly790=) c.2262C>T (p.Gly754=) n.2498C>T n.2496C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313446G>C | CA487829689 | CCDC88C | c.2370C>G (p.Gly790=) c.2262C>G (p.Gly754=) n.2498C>G n.2496C>G | |
14 | g.91313446G= | CA2154878882 | CCDC88C | c.2370C= (p.Gly790=) c.2262C= (p.Gly754=) n.2498C= n.2496C= | |
14 | g.91313446G>T | CA487829692 | CCDC88C | c.2370C>A (p.Gly790=) c.2262C>A (p.Gly754=) n.2498C>A n.2496C>A | gnomAD v4 |
14 | g.91313447C>A | CA390630246 | CCDC88C | c.2369G>T (p.Gly790Val) c.2261G>T (p.Gly754Val) n.2497G>T n.2495G>T | |
14 | g.91313447C= | CA2154878888 | CCDC88C | c.2369G= (p.Gly790=) c.2261G= (p.Gly754=) n.2497G= n.2495G= | |
14 | g.91313447C>G | CA390630243 | CCDC88C | c.2369G>C (p.Gly790Ala) c.2261G>C (p.Gly754Ala) n.2497G>C n.2495G>C | gnomAD v4 |
14 | g.91313447C>T | CA265569825 | CCDC88C | c.2369G>A (p.Gly790Asp) c.2261G>A (p.Gly754Asp) n.2497G>A n.2495G>A | dbSNP gnomAD v4 |
14 | g.91313448C>A | CA390630248 | CCDC88C | c.2368G>T (p.Gly790Cys) c.2260G>T (p.Gly754Cys) n.2496G>T n.2494G>T | |
14 | g.91313448C= | CA2154878891 | CCDC88C | c.2368G= (p.Gly790=) c.2260G= (p.Gly754=) n.2496G= n.2494G= | |
14 | g.91313448C>G | CA390630250 | CCDC88C | c.2368G>C (p.Gly790Arg) c.2260G>C (p.Gly754Arg) n.2496G>C n.2494G>C | |
14 | g.91313448C>T | CA265569826 | CCDC88C | c.2368G>A (p.Gly790Ser) c.2260G>A (p.Gly754Ser) n.2496G>A n.2494G>A | dbSNP gnomAD v4 |
14 | g.91313449C>A | CA487829696 | CCDC88C | c.2367G>T (p.Leu789=) c.2259G>T (p.Leu753=) n.2495G>T n.2493G>T | |
14 | g.91313449C= | CA2154878898 | CCDC88C | c.2367G= (p.Leu789=) c.2259G= (p.Leu753=) n.2495G= n.2493G= | |
14 | g.91313449C>G | CA7309680 | CCDC88C | c.2367G>C (p.Leu789=) c.2259G>C (p.Leu753=) n.2495G>C n.2493G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313449C>T | CA7309679 | CCDC88C | c.2367G>A (p.Leu789=) c.2259G>A (p.Leu753=) n.2495G>A n.2493G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313450A>C | CA390630255 | CCDC88C | c.2366T>G (p.Leu789Arg) c.2258T>G (p.Leu753Arg) n.2494T>G n.2492T>G | |
14 | g.91313450A>G | CA390630257 | CCDC88C | c.2366T>C (p.Leu789Pro) c.2258T>C (p.Leu753Pro) n.2494T>C n.2492T>C | |
14 | g.91313450A>T | CA390630259 | CCDC88C | c.2366T>A (p.Leu789Gln) c.2258T>A (p.Leu753Gln) n.2494T>A n.2492T>A | |
14 | g.91313451G>A | CA7309682 | CCDC88C | c.2365C>T (p.Leu789=) c.2257C>T (p.Leu753=) n.2493C>T n.2491C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313451G>C | CA7309681 | CCDC88C | c.2365C>G (p.Leu789Val) c.2257C>G (p.Leu753Val) n.2493C>G n.2491C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313451G= | CA2154878900 | CCDC88C | c.2365C= (p.Leu789=) c.2257C= (p.Leu753=) n.2493C= n.2491C= | |
14 | g.91313451G>T | CA390630263 | CCDC88C | c.2365C>A (p.Leu789Met) c.2257C>A (p.Leu753Met) n.2493C>A n.2491C>A | gnomAD v4 |
14 | g.91313452C>A | CA390630265 | CCDC88C | c.2364G>T (p.Glu788Asp) c.2256G>T (p.Glu752Asp) n.2492G>T n.2490G>T | |
14 | g.91313452C= | CA2154878902 | CCDC88C | c.2364G= (p.Glu788=) c.2256G= (p.Glu752=) n.2492G= n.2490G= | |
14 | g.91313452C>G | CA390630266 | CCDC88C | c.2364G>C (p.Glu788Asp) c.2256G>C (p.Glu752Asp) n.2492G>C n.2490G>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313452C>T | CA487829700 | CCDC88C | c.2364G>A (p.Glu788=) c.2256G>A (p.Glu752=) n.2492G>A n.2490G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313453T>A | CA390630269 | CCDC88C | c.2363A>T (p.Glu788Val) c.2255A>T (p.Glu752Val) n.2491A>T n.2489A>T | |
14 | g.91313453T>C | CA390630270 | CCDC88C | c.2363A>G (p.Glu788Gly) c.2255A>G (p.Glu752Gly) n.2491A>G n.2489A>G | dbSNP gnomAD v4 |
14 | g.91313453T>G | CA390630271 | CCDC88C | c.2363A>C (p.Glu788Ala) c.2255A>C (p.Glu752Ala) n.2491A>C n.2489A>C | |
14 | g.91313453T= | CA2154878905 | CCDC88C | c.2363A= (p.Glu788=) c.2255A= (p.Glu752=) n.2491A= n.2489A= | |
14 | g.91313454C>A | CA390630273 | CCDC88C | c.2362G>T (p.Glu788Ter) c.2254G>T (p.Glu752Ter) n.2490G>T n.2488G>T | gnomAD v4 |
14 | g.91313454C= | CA2154878907 | CCDC88C | c.2362G= (p.Glu788=) c.2254G= (p.Glu752=) n.2490G= n.2488G= | |
14 | g.91313454C>G | CA7309683 | CCDC88C | c.2362G>C (p.Glu788Gln) c.2254G>C (p.Glu752Gln) n.2490G>C n.2488G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313454C>T | CA390630276 | CCDC88C | c.2362G>A (p.Glu788Lys) c.2254G>A (p.Glu752Lys) n.2490G>A n.2488G>A | |
14 | g.91313455A>C | CA390630278 | CCDC88C | c.2361T>G (p.Ser787Arg) c.2253T>G (p.Ser751Arg) n.2489T>G n.2487T>G | |
14 | g.91313455A>G | CA487829702 | CCDC88C | c.2361T>C (p.Ser787=) c.2253T>C (p.Ser751=) n.2489T>C n.2487T>C | gnomAD v4 |
14 | g.91313455A>T | CA390630279 | CCDC88C | c.2361T>A (p.Ser787Arg) c.2253T>A (p.Ser751Arg) n.2489T>A n.2487T>A | |
14 | g.91313456C>A | CA390630280 | CCDC88C | c.2360G>T (p.Ser787Ile) c.2252G>T (p.Ser751Ile) n.2488G>T n.2486G>T | |
14 | g.91313456C>G | CA390630281 | CCDC88C | c.2360G>C (p.Ser787Thr) c.2252G>C (p.Ser751Thr) n.2488G>C n.2486G>C | |
14 | g.91313456C>T | CA390630282 | CCDC88C | c.2360G>A (p.Ser787Asn) c.2252G>A (p.Ser751Asn) n.2488G>A n.2486G>A | gnomAD v4 |
14 | g.91313457T>A | CA390630283 | CCDC88C | c.2359A>T (p.Ser787Cys) c.2251A>T (p.Ser751Cys) n.2487A>T n.2485A>T | |
14 | g.91313457T>C | CA265569864 | CCDC88C | c.2359A>G (p.Ser787Gly) c.2251A>G (p.Ser751Gly) n.2487A>G n.2485A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.91313457T>G | CA390630286 | CCDC88C | c.2359A>C (p.Ser787Arg) c.2251A>C (p.Ser751Arg) n.2487A>C n.2485A>C | |
14 | g.91313457T= | CA2154878909 | CCDC88C | c.2359A= (p.Ser787=) c.2251A= (p.Ser751=) n.2487A= n.2485A= | |
14 | g.91313458C>A | CA390630288 | CCDC88C | c.2358G>T (p.Glu786Asp) c.2250G>T (p.Glu750Asp) n.2486G>T n.2484G>T | |
14 | g.91313458C= | CA2154878911 | CCDC88C | c.2358G= (p.Glu786=) c.2250G= (p.Glu750=) n.2486G= n.2484G= | |
14 | g.91313458C>G | CA7309684 | CCDC88C | c.2358G>C (p.Glu786Asp) c.2250G>C (p.Glu750Asp) n.2486G>C n.2484G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313458C>T | CA487829704 | CCDC88C | c.2358G>A (p.Glu786=) c.2250G>A (p.Glu750=) n.2486G>A n.2484G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313459T>A | CA390630291 | CCDC88C | c.2357A>T (p.Glu786Val) c.2249A>T (p.Glu750Val) n.2485A>T n.2483A>T | |
14 | g.91313459T>C | CA390630293 | CCDC88C | c.2357A>G (p.Glu786Gly) c.2249A>G (p.Glu750Gly) n.2485A>G n.2483A>G | gnomAD v4 |
14 | g.91313459T>G | CA390630294 | CCDC88C | c.2357A>C (p.Glu786Ala) c.2249A>C (p.Glu750Ala) n.2485A>C n.2483A>C | |
14 | g.91313460C>A | CA390630297 | CCDC88C | c.2356G>T (p.Glu786Ter) c.2248G>T (p.Glu750Ter) n.2484G>T n.2482G>T | |
14 | g.91313460C= | CA2154878914 | CCDC88C | c.2356G= (p.Glu786=) c.2248G= (p.Glu750=) n.2484G= n.2482G= | |
14 | g.91313460C>G | CA390630299 | CCDC88C | c.2356G>C (p.Glu786Gln) c.2248G>C (p.Glu750Gln) n.2484G>C n.2482G>C | gnomAD v4 |
14 | g.91313460C>T | CA390630300 | CCDC88C | c.2356G>A (p.Glu786Lys) c.2248G>A (p.Glu750Lys) n.2484G>A n.2482G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313461C>A | CA390630303 | CCDC88C | c.2355G>T (p.Leu785Phe) c.2247G>T (p.Leu749Phe) n.2483G>T n.2481G>T | |
14 | g.91313461C= | CA2154878917 | CCDC88C | c.2355G= (p.Leu785=) c.2247G= (p.Leu749=) n.2483G= n.2481G= | |
14 | g.91313461C>G | CA390630305 | CCDC88C | c.2355G>C (p.Leu785Phe) c.2247G>C (p.Leu749Phe) n.2483G>C n.2481G>C | |
14 | g.91313461C>T | CA7309685 | CCDC88C | c.2355G>A (p.Leu785=) c.2247G>A (p.Leu749=) n.2483G>A n.2481G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313462A>C | CA390630306 | CCDC88C | c.2354T>G (p.Leu785Trp) c.2246T>G (p.Leu749Trp) n.2482T>G n.2480T>G | |
14 | g.91313462A>G | CA390630308 | CCDC88C | c.2354T>C (p.Leu785Ser) c.2246T>C (p.Leu749Ser) n.2482T>C n.2480T>C | |
14 | g.91313462A>T | CA390630310 | CCDC88C | c.2354T>A (p.Leu785Ter) c.2246T>A (p.Leu749Ter) n.2482T>A n.2480T>A | |
14 | g.91313463A>C | CA390630313 | CCDC88C | c.2353T>G (p.Leu785Val) c.2245T>G (p.Leu749Val) n.2481T>G n.2479T>G | |
14 | g.91313463A>G | CA487829710 | CCDC88C | c.2353T>C (p.Leu785=) c.2245T>C (p.Leu749=) n.2481T>C n.2479T>C | |
14 | g.91313463A>T | CA390630312 | CCDC88C | c.2353T>A (p.Leu785Met) c.2245T>A (p.Leu749Met) n.2481T>A n.2479T>A | |
14 | g.91313464G>A | CA265569896 | CCDC88C | c.2352C>T (p.Thr784=) c.2244C>T (p.Thr748=) n.2480C>T n.2478C>T | dbSNP |
14 | g.91313464G>C | CA487829712 | CCDC88C | c.2352C>G (p.Thr784=) c.2244C>G (p.Thr748=) n.2480C>G n.2478C>G | |
14 | g.91313464G= | CA2154878919 | CCDC88C | c.2352C= (p.Thr784=) c.2244C= (p.Thr748=) n.2480C= n.2478C= | |
14 | g.91313464G>T | CA487829713 | CCDC88C | c.2352C>A (p.Thr784=) c.2244C>A (p.Thr748=) n.2480C>A n.2478C>A | gnomAD v4 |
14 | g.91313465_91313494del | CA2626131002 | CCDC88C | c.2323_2352del (p.Leu775_Thr784del) c.2215_2244del (p.Leu739_Thr748del) n.2451_2480del n.2449_2478del | gnomAD v4 |
14 | g.91313465G>A | CA390630315 | CCDC88C | c.2351C>T (p.Thr784Ile) c.2243C>T (p.Thr748Ile) n.2479C>T n.2477C>T | |
14 | g.91313465G>C | CA390630318 | CCDC88C | c.2351C>G (p.Thr784Ser) c.2243C>G (p.Thr748Ser) n.2479C>G n.2477C>G | |
14 | g.91313465G= | CA2154878922 | CCDC88C | c.2351C= (p.Thr784=) c.2243C= (p.Thr748=) n.2479C= n.2477C= | |
14 | g.91313465G>T | CA265569899 | CCDC88C | c.2351C>A (p.Thr784Asn) c.2243C>A (p.Thr748Asn) n.2479C>A n.2477C>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313466T>A | CA390630319 | CCDC88C | c.2350A>T (p.Thr784Ser) c.2242A>T (p.Thr748Ser) n.2478A>T n.2476A>T | |
14 | g.91313466T>C | CA390630323 | CCDC88C | c.2350A>G (p.Thr784Ala) c.2242A>G (p.Thr748Ala) n.2478A>G n.2476A>G | |
14 | g.91313466T>G | CA390630321 | CCDC88C | c.2350A>C (p.Thr784Pro) c.2242A>C (p.Thr748Pro) n.2478A>C n.2476A>C | |
14 | g.91313467C>A | CA390630325 | CCDC88C | c.2349G>T (p.Gln783His) c.2241G>T (p.Gln747His) n.2477G>T n.2475G>T | |
14 | g.91313467C= | CA2154878925 | CCDC88C | c.2349G= (p.Gln783=) c.2241G= (p.Gln747=) n.2477G= n.2475G= | |
14 | g.91313467C>G | CA390630327 | CCDC88C | c.2349G>C (p.Gln783His) c.2241G>C (p.Gln747His) n.2477G>C n.2475G>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313467C>T | CA487829715 | CCDC88C | c.2349G>A (p.Gln783=) c.2241G>A (p.Gln747=) n.2477G>A n.2475G>A | |
14 | g.91313468T>A | CA390630329 | CCDC88C | c.2348A>T (p.Gln783Leu) c.2240A>T (p.Gln747Leu) n.2476A>T n.2474A>T | |
14 | g.91313468T>C | CA390630331 | CCDC88C | c.2348A>G (p.Gln783Arg) c.2240A>G (p.Gln747Arg) n.2476A>G n.2474A>G | gnomAD v4 |
14 | g.91313468T>G | CA390630332 | CCDC88C | c.2348A>C (p.Gln783Pro) c.2240A>C (p.Gln747Pro) n.2476A>C n.2474A>C | gnomAD v4 |
14 | g.91313469G>A | CA390630334 | CCDC88C | c.2347C>T (p.Gln783Ter) c.2239C>T (p.Gln747Ter) n.2475C>T n.2473C>T | |
14 | g.91313469G>C | CA390630336 | CCDC88C | c.2347C>G (p.Gln783Glu) c.2239C>G (p.Gln747Glu) n.2475C>G n.2473C>G | |
14 | g.91313469G>T | CA390630338 | CCDC88C | c.2347C>A (p.Gln783Lys) c.2239C>A (p.Gln747Lys) n.2475C>A n.2473C>A | gnomAD v4 COSMIC COSMIC |
14 | g.91313470C>A | CA487829717 | CCDC88C | c.2346G>T (p.Thr782=) c.2238G>T (p.Thr746=) n.2474G>T n.2472G>T | gnomAD v4 |
14 | g.91313470C= | CA2154878929 | CCDC88C | c.2346G= (p.Thr782=) c.2238G= (p.Thr746=) n.2474G= n.2472G= | |
14 | g.91313470C>G | CA487829720 | CCDC88C | c.2346G>C (p.Thr782=) c.2238G>C (p.Thr746=) n.2474G>C n.2472G>C | |
14 | g.91313470C>T | CA7309686 | CCDC88C | c.2346G>A (p.Thr782=) c.2238G>A (p.Thr746=) n.2474G>A n.2472G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313471G>A | CA7309687 | CCDC88C | c.2345C>T (p.Thr782Met) c.2237C>T (p.Thr746Met) n.2473C>T n.2471C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313471G>C | CA390630343 | CCDC88C | c.2345C>G (p.Thr782Arg) c.2237C>G (p.Thr746Arg) n.2473C>G n.2471C>G | |
14 | g.91313471G= | CA2154878931 | CCDC88C | c.2345C= (p.Thr782=) c.2237C= (p.Thr746=) n.2473C= n.2471C= | |
14 | g.91313471G>T | CA390630345 | CCDC88C | c.2345C>A (p.Thr782Lys) c.2237C>A (p.Thr746Lys) n.2473C>A n.2471C>A | gnomAD v4 |
14 | g.91313472T>A | CA7309688 | CCDC88C | c.2344A>T (p.Thr782Ser) c.2236A>T (p.Thr746Ser) n.2472A>T n.2470A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313472T>C | CA390630348 | CCDC88C | c.2344A>G (p.Thr782Ala) c.2236A>G (p.Thr746Ala) n.2472A>G n.2470A>G | dbSNP gnomAD v4 |
14 | g.91313472T>G | CA390630349 | CCDC88C | c.2344A>C (p.Thr782Pro) c.2236A>C (p.Thr746Pro) n.2472A>C n.2470A>C | |
14 | g.91313472T= | CA2154878938 | CCDC88C | c.2344A= (p.Thr782=) c.2236A= (p.Thr746=) n.2472A= n.2470A= | |
14 | g.91313473C>A | CA390630353 | CCDC88C | c.2343G>T (p.Lys781Asn) c.2235G>T (p.Lys745Asn) n.2471G>T n.2469G>T | |
14 | g.91313473C= | CA2154878940 | CCDC88C | c.2343G= (p.Lys781=) c.2235G= (p.Lys745=) n.2471G= n.2469G= | |
14 | g.91313473C>G | CA390630354 | CCDC88C | c.2343G>C (p.Lys781Asn) c.2235G>C (p.Lys745Asn) n.2471G>C n.2469G>C | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
14 | g.91313473C>T | CA487829725 | CCDC88C | c.2343G>A (p.Lys781=) c.2235G>A (p.Lys745=) n.2471G>A n.2469G>A | |
14 | g.91313474T>A | CA390630357 | CCDC88C | c.2342A>T (p.Lys781Met) c.2234A>T (p.Lys745Met) n.2470A>T n.2468A>T | |
14 | g.91313474T>C | CA390630359 | CCDC88C | c.2342A>G (p.Lys781Arg) c.2234A>G (p.Lys745Arg) n.2470A>G n.2468A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313474T>G | CA390630360 | CCDC88C | c.2342A>C (p.Lys781Thr) c.2234A>C (p.Lys745Thr) n.2470A>C n.2468A>C | |
14 | g.91313474T= | CA2154878944 | CCDC88C | c.2342A= (p.Lys781=) c.2234A= (p.Lys745=) n.2470A= n.2468A= | |
14 | g.91313475T>A | CA390630362 | CCDC88C | c.2341A>T (p.Lys781Ter) c.2233A>T (p.Lys745Ter) n.2469A>T n.2467A>T | |
14 | g.91313475T>C | CA390630363 | CCDC88C | c.2341A>G (p.Lys781Glu) c.2233A>G (p.Lys745Glu) n.2469A>G n.2467A>G | gnomAD v4 |
14 | g.91313475T>G | CA390630365 | CCDC88C | c.2341A>C (p.Lys781Gln) c.2233A>C (p.Lys745Gln) n.2469A>C n.2467A>C | |
14 | g.91313476G>A | CA487829726 | CCDC88C | c.2340C>T (p.His780=) c.2232C>T (p.His744=) n.2468C>T n.2466C>T | |
14 | g.91313476G>C | CA390630366 | CCDC88C | c.2340C>G (p.His780Gln) c.2232C>G (p.His744Gln) n.2468C>G n.2466C>G | |
14 | g.91313476G>T | CA390630368 | CCDC88C | c.2340C>A (p.His780Gln) c.2232C>A (p.His744Gln) n.2468C>A n.2466C>A | gnomAD v4 |
14 | g.91313477T>A | CA390630375 | CCDC88C | c.2339A>T (p.His780Leu) c.2231A>T (p.His744Leu) n.2467A>T n.2465A>T | |
14 | g.91313477T>C | CA390630372 | CCDC88C | c.2339A>G (p.His780Arg) c.2231A>G (p.His744Arg) n.2467A>G n.2465A>G | |
14 | g.91313477T>G | CA390630371 | CCDC88C | c.2339A>C (p.His780Pro) c.2231A>C (p.His744Pro) n.2467A>C n.2465A>C | |
14 | g.91313478G>A | CA390630378 | CCDC88C | c.2338C>T (p.His780Tyr) c.2230C>T (p.His744Tyr) n.2466C>T n.2464C>T | |
14 | g.91313478G>C | CA390630380 | CCDC88C | c.2338C>G (p.His780Asp) c.2230C>G (p.His744Asp) n.2466C>G n.2464C>G | |
14 | g.91313478G>T | CA390630382 | CCDC88C | c.2338C>A (p.His780Asn) c.2230C>A (p.His744Asn) n.2466C>A n.2464C>A | gnomAD v4 |
14 | g.91313479G>A | CA487829729 | CCDC88C | c.2337C>T (p.Ser779=) c.2229C>T (p.Ser743=) n.2465C>T n.2463C>T | |
14 | g.91313479G>C | CA390630383 | CCDC88C | c.2337C>G (p.Ser779Arg) c.2229C>G (p.Ser743Arg) n.2465C>G n.2463C>G | |
14 | g.91313479G>T | CA390630385 | CCDC88C | c.2337C>A (p.Ser779Arg) c.2229C>A (p.Ser743Arg) n.2465C>A n.2463C>A | |
14 | g.91313479_91313495dup | CA2626131020 | CCDC88C | c.2321_2337dup (p.His780AlafsTer?) c.2213_2229dup (p.His744AlafsTer?) n.2449_2465dup n.2447_2463dup | gnomAD v4 |
14 | g.91313480C>A | CA390630387 | CCDC88C | c.2336G>T (p.Ser779Ile) c.2228G>T (p.Ser743Ile) n.2464G>T n.2462G>T | |
14 | g.91313480C>G | CA390630389 | CCDC88C | c.2336G>C (p.Ser779Thr) c.2228G>C (p.Ser743Thr) n.2464G>C n.2462G>C | |
14 | g.91313480C>T | CA390630390 | CCDC88C | c.2336G>A (p.Ser779Asn) c.2228G>A (p.Ser743Asn) n.2464G>A n.2462G>A | |
14 | g.91313481T>A | CA390630393 | CCDC88C | c.2335A>T (p.Ser779Cys) c.2227A>T (p.Ser743Cys) n.2463A>T n.2461A>T | |
14 | g.91313481T>C | CA390630395 | CCDC88C | c.2335A>G (p.Ser779Gly) c.2227A>G (p.Ser743Gly) n.2463A>G n.2461A>G | gnomAD v4 |
14 | g.91313481T>G | CA390630396 | CCDC88C | c.2335A>C (p.Ser779Arg) c.2227A>C (p.Ser743Arg) n.2463A>C n.2461A>C | |
14 | g.91313482G>A | CA487829732 | CCDC88C | c.2334C>T (p.Ser778=) c.2226C>T (p.Ser742=) n.2462C>T n.2460C>T | gnomAD v4 |
14 | g.91313482G>C | CA390630399 | CCDC88C | c.2334C>G (p.Ser778Arg) c.2226C>G (p.Ser742Arg) n.2462C>G n.2460C>G | |
14 | g.91313482G>T | CA390630400 | CCDC88C | c.2334C>A (p.Ser778Arg) c.2226C>A (p.Ser742Arg) n.2462C>A n.2460C>A | gnomAD v4 |
14 | g.91313483C>A | CA390630402 | CCDC88C | c.2333G>T (p.Ser778Ile) c.2225G>T (p.Ser742Ile) n.2461G>T n.2459G>T | |
14 | g.91313483C= | CA2154878947 | CCDC88C | c.2333G= (p.Ser778=) c.2225G= (p.Ser742=) n.2461G= n.2459G= | |
14 | g.91313483C>G | CA7309689 | CCDC88C | c.2333G>C (p.Ser778Thr) c.2225G>C (p.Ser742Thr) n.2461G>C n.2459G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313483C>T | CA390630403 | CCDC88C | c.2333G>A (p.Ser778Asn) c.2225G>A (p.Ser742Asn) n.2461G>A n.2459G>A | |
14 | g.91313484T>A | CA390630406 | CCDC88C | c.2332A>T (p.Ser778Cys) c.2224A>T (p.Ser742Cys) n.2460A>T n.2458A>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313484T>C | CA390630407 | CCDC88C | c.2332A>G (p.Ser778Gly) c.2224A>G (p.Ser742Gly) n.2460A>G n.2458A>G | dbSNP |
14 | g.91313484T>G | CA390630409 | CCDC88C | c.2332A>C (p.Ser778Arg) c.2224A>C (p.Ser742Arg) n.2460A>C n.2458A>C | dbSNP |
14 | g.91313484T= | CA2154878951 | CCDC88C | c.2332A= (p.Ser778=) c.2224A= (p.Ser742=) n.2460A= n.2458A= | |
14 | g.91313485G>A | CA487829734 | CCDC88C | c.2331C>T (p.Ser777=) c.2223C>T (p.Ser741=) n.2459C>T n.2457C>T | gnomAD v4 |
14 | g.91313485G>C | CA390630411 | CCDC88C | c.2331C>G (p.Ser777Arg) c.2223C>G (p.Ser741Arg) n.2459C>G n.2457C>G | |
14 | g.91313485G>T | CA390630413 | CCDC88C | c.2331C>A (p.Ser777Arg) c.2223C>A (p.Ser741Arg) n.2459C>A n.2457C>A | gnomAD v4 |
14 | g.91313486C>A | CA390630415 | CCDC88C | c.2330G>T (p.Ser777Ile) c.2222G>T (p.Ser741Ile) n.2458G>T n.2456G>T | |
14 | g.91313486C= | CA2154878955 | CCDC88C | c.2330G= (p.Ser777=) c.2222G= (p.Ser741=) n.2458G= n.2456G= | |
14 | g.91313486C>G | CA390630417 | CCDC88C | c.2330G>C (p.Ser777Thr) c.2222G>C (p.Ser741Thr) n.2458G>C n.2456G>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313486C>T | CA390630418 | CCDC88C | c.2330G>A (p.Ser777Asn) c.2222G>A (p.Ser741Asn) n.2458G>A n.2456G>A | gnomAD v4 |
14 | g.91313487T>A | CA390630422 | CCDC88C | c.2329A>T (p.Ser777Cys) c.2221A>T (p.Ser741Cys) n.2457A>T n.2455A>T | |
14 | g.91313487T>C | CA390630423 | CCDC88C | c.2329A>G (p.Ser777Gly) c.2221A>G (p.Ser741Gly) n.2457A>G n.2455A>G | |
14 | g.91313487T>G | CA390630425 | CCDC88C | c.2329A>C (p.Ser777Arg) c.2221A>C (p.Ser741Arg) n.2457A>C n.2455A>C | |
14 | g.91313488C>A | CA390630429 | CCDC88C | c.2328G>T (p.Glu776Asp) c.2220G>T (p.Glu740Asp) n.2456G>T n.2454G>T | |
14 | g.91313488C= | CA2154878958 | CCDC88C | c.2328G= (p.Glu776=) c.2220G= (p.Glu740=) n.2456G= n.2454G= | |
14 | g.91313488C>G | CA390630428 | CCDC88C | c.2328G>C (p.Glu776Asp) c.2220G>C (p.Glu740Asp) n.2456G>C n.2454G>C | |
14 | g.91313488C>T | CA7309690 | CCDC88C | c.2328G>A (p.Glu776=) c.2220G>A (p.Glu740=) n.2456G>A n.2454G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313489T>A | CA390630433 | CCDC88C | c.2327A>T (p.Glu776Val) c.2219A>T (p.Glu740Val) n.2455A>T n.2453A>T | |
14 | g.91313489T>C | CA390630431 | CCDC88C | c.2327A>G (p.Glu776Gly) c.2219A>G (p.Glu740Gly) n.2455A>G n.2453A>G | |
14 | g.91313489T>G | CA390630435 | CCDC88C | c.2327A>C (p.Glu776Ala) c.2219A>C (p.Glu740Ala) n.2455A>C n.2453A>C | |
14 | g.91313490C>A | CA390630437 | CCDC88C | c.2326G>T (p.Glu776Ter) c.2218G>T (p.Glu740Ter) n.2454G>T n.2452G>T | dbSNP gnomAD v2 |
14 | g.91313490C= | CA2154878961 | CCDC88C | c.2326G= (p.Glu776=) c.2218G= (p.Glu740=) n.2454G= n.2452G= | |
14 | g.91313490C>G | CA390630440 | CCDC88C | c.2326G>C (p.Glu776Gln) c.2218G>C (p.Glu740Gln) n.2454G>C n.2452G>C | |
14 | g.91313490C>T | CA390630441 | CCDC88C | c.2326G>A (p.Glu776Lys) c.2218G>A (p.Glu740Lys) n.2454G>A n.2452G>A | gnomAD v4 |
14 | g.91313491C>A | CA487829738 | CCDC88C | c.2325G>T (p.Leu775=) c.2217G>T (p.Leu739=) n.2453G>T n.2451G>T | ClinVar gnomAD v4 |
14 | g.91313491C>G | CA487829737 | CCDC88C | c.2325G>C (p.Leu775=) c.2217G>C (p.Leu739=) n.2453G>C n.2451G>C | |
14 | g.91313491C>T | CA487829736 | CCDC88C | c.2325G>A (p.Leu775=) c.2217G>A (p.Leu739=) n.2453G>A n.2451G>A | gnomAD v4 |
14 | g.91313492A= | CA2154878964 | CCDC88C | c.2324T= (p.Leu775=) c.2216T= (p.Leu739=) n.2452T= n.2450T= | |
14 | g.91313492A>C | CA390630442 | CCDC88C | c.2324T>G (p.Leu775Arg) c.2216T>G (p.Leu739Arg) n.2452T>G n.2450T>G | |
14 | g.91313492A>G | CA390630444 | CCDC88C | c.2324T>C (p.Leu775Pro) c.2216T>C (p.Leu739Pro) n.2452T>C n.2450T>C | dbSNP |
14 | g.91313492A>T | CA390630446 | CCDC88C | c.2324T>A (p.Leu775Gln) c.2216T>A (p.Leu739Gln) n.2452T>A n.2450T>A | |
14 | g.91313493G>A | CA487829739 | CCDC88C | c.2323C>T (p.Leu775=) c.2215C>T (p.Leu739=) n.2451C>T n.2449C>T | COSMIC COSMIC |
14 | g.91313493G>C | CA390630448 | CCDC88C | c.2323C>G (p.Leu775Val) c.2215C>G (p.Leu739Val) n.2451C>G n.2449C>G | |
14 | g.91313493G= | CA2154878967 | CCDC88C | c.2323C= (p.Leu775=) c.2215C= (p.Leu739=) n.2451C= n.2449C= | |
14 | g.91313493G>T | CA390630450 | CCDC88C | c.2323C>A (p.Leu775Met) c.2215C>A (p.Leu739Met) n.2451C>A n.2449C>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313494G>A | CA487829740 | CCDC88C | c.2322C>T (p.Ser774=) c.2214C>T (p.Ser738=) n.2450C>T n.2448C>T | |
14 | g.91313494G>C | CA390630452 | CCDC88C | c.2322C>G (p.Ser774Arg) c.2214C>G (p.Ser738Arg) n.2450C>G n.2448C>G | |
14 | g.91313494G>T | CA390630454 | CCDC88C | c.2322C>A (p.Ser774Arg) c.2214C>A (p.Ser738Arg) n.2450C>A n.2448C>A | gnomAD v4 |
14 | g.91313495C>A | CA390630456 | CCDC88C | c.2321G>T (p.Ser774Ile) c.2213G>T (p.Ser738Ile) n.2449G>T n.2447G>T | |
14 | g.91313495C>G | CA390630458 | CCDC88C | c.2321G>C (p.Ser774Thr) c.2213G>C (p.Ser738Thr) n.2449G>C n.2447G>C | |
14 | g.91313495C>T | CA390630459 | CCDC88C | c.2321G>A (p.Ser774Asn) c.2213G>A (p.Ser738Asn) n.2449G>A n.2447G>A | |
14 | g.91313496T>A | CA390630462 | CCDC88C | c.2320A>T (p.Ser774Cys) c.2212A>T (p.Ser738Cys) n.2448A>T n.2446A>T | |
14 | g.91313496T>C | CA390630465 | CCDC88C | c.2320A>G (p.Ser774Gly) c.2212A>G (p.Ser738Gly) n.2448A>G n.2446A>G | |
14 | g.91313496T>G | CA390630464 | CCDC88C | c.2320A>C (p.Ser774Arg) c.2212A>C (p.Ser738Arg) n.2448A>C n.2446A>C | |
14 | g.91313497C>A | CA390630468 | CCDC88C | c.2319G>T (p.Gln773His) c.2211G>T (p.Gln737His) n.2447G>T n.2445G>T | |
14 | g.91313497C>G | CA390630470 | CCDC88C | c.2319G>C (p.Gln773His) c.2211G>C (p.Gln737His) n.2447G>C n.2445G>C | |
14 | g.91313497C>T | CA487829741 | CCDC88C | c.2319G>A (p.Gln773=) c.2211G>A (p.Gln737=) n.2447G>A n.2445G>A | |
14 | g.91313498T>A | CA390630472 | CCDC88C | c.2318A>T (p.Gln773Leu) c.2210A>T (p.Gln737Leu) n.2446A>T n.2444A>T | |
14 | g.91313498T>C | CA390630473 | CCDC88C | c.2318A>G (p.Gln773Arg) c.2210A>G (p.Gln737Arg) n.2446A>G n.2444A>G | |
14 | g.91313498T>G | CA390630475 | CCDC88C | c.2318A>C (p.Gln773Pro) c.2210A>C (p.Gln737Pro) n.2446A>C n.2444A>C | |
14 | g.91313499G>A | CA390630476 | CCDC88C | c.2317C>T (p.Gln773Ter) c.2209C>T (p.Gln737Ter) n.2445C>T n.2443C>T | gnomAD v4 |
14 | g.91313499G>C | CA390630480 | CCDC88C | c.2317C>G (p.Gln773Glu) c.2209C>G (p.Gln737Glu) n.2445C>G n.2443C>G | |
14 | g.91313499G>T | CA390630481 | CCDC88C | c.2317C>A (p.Gln773Lys) c.2209C>A (p.Gln737Lys) n.2445C>A n.2443C>A | gnomAD v4 |
14 | g.91313500C>A | CA390630484 | CCDC88C | c.2316G>T (p.Gln772His) c.2208G>T (p.Gln736His) n.2444G>T n.2442G>T | |
14 | g.91313500C= | CA2154878971 | CCDC88C | c.2316G= (p.Gln772=) c.2208G= (p.Gln736=) n.2444G= n.2442G= | |
14 | g.91313500C>G | CA390630485 | CCDC88C | c.2316G>C (p.Gln772His) c.2208G>C (p.Gln736His) n.2444G>C n.2442G>C | |
14 | g.91313500C>T | CA487829742 | CCDC88C | c.2316G>A (p.Gln772=) c.2208G>A (p.Gln736=) n.2444G>A n.2442G>A | ClinVar dbSNP gnomAD v4 |
14 | g.91313501T>A | CA390630489 | CCDC88C | c.2315A>T (p.Gln772Leu) c.2207A>T (p.Gln736Leu) n.2443A>T n.2441A>T | |
14 | g.91313501T>C | CA390630490 | CCDC88C | c.2315A>G (p.Gln772Arg) c.2207A>G (p.Gln736Arg) n.2443A>G n.2441A>G | |
14 | g.91313501T>G | CA390630487 | CCDC88C | c.2315A>C (p.Gln772Pro) c.2207A>C (p.Gln736Pro) n.2443A>C n.2441A>C | |
14 | g.91313502G>A | CA390630492 | CCDC88C | c.2314C>T (p.Gln772Ter) c.2206C>T (p.Gln736Ter) n.2442C>T n.2440C>T | gnomAD v4 |
14 | g.91313502G>C | CA390630493 | CCDC88C | c.2314C>G (p.Gln772Glu) c.2206C>G (p.Gln736Glu) n.2442C>G n.2440C>G | |
14 | g.91313502G>T | CA390630494 | CCDC88C | c.2314C>A (p.Gln772Lys) c.2206C>A (p.Gln736Lys) n.2442C>A n.2440C>A | gnomAD v4 |
14 | g.91313503C>A | CA487829743 | CCDC88C | c.2313G>T (p.Leu771=) c.2205G>T (p.Leu735=) n.2441G>T n.2439G>T | gnomAD v4 |
14 | g.91313503C>G | CA487829744 | CCDC88C | c.2313G>C (p.Leu771=) c.2205G>C (p.Leu735=) n.2441G>C n.2439G>C | |
14 | g.91313503C>T | CA487829745 | CCDC88C | c.2313G>A (p.Leu771=) c.2205G>A (p.Leu735=) n.2441G>A n.2439G>A | gnomAD v4 |
14 | g.91313504A>C | CA390630496 | CCDC88C | c.2312T>G (p.Leu771Arg) c.2204T>G (p.Leu735Arg) n.2440T>G n.2438T>G | |
14 | g.91313504A>G | CA390630498 | CCDC88C | c.2312T>C (p.Leu771Pro) c.2204T>C (p.Leu735Pro) n.2440T>C n.2438T>C | gnomAD v4 |
14 | g.91313504A>T | CA390630499 | CCDC88C | c.2312T>A (p.Leu771Gln) c.2204T>A (p.Leu735Gln) n.2440T>A n.2438T>A | |
14 | g.91313505G>A | CA487829746 | CCDC88C | c.2311C>T (p.Leu771=) c.2203C>T (p.Leu735=) n.2439C>T n.2437C>T | |
14 | g.91313505G>C | CA390630501 | CCDC88C | c.2311C>G (p.Leu771Val) c.2203C>G (p.Leu735Val) n.2439C>G n.2437C>G | |
14 | g.91313505G>T | CA390630502 | CCDC88C | c.2311C>A (p.Leu771Met) c.2203C>A (p.Leu735Met) n.2439C>A n.2437C>A | gnomAD v4 |
14 | g.91313506C>A | CA487829747 | CCDC88C | c.2310G>T (p.Arg770=) c.2202G>T (p.Arg734=) n.2438G>T n.2436G>T | |
14 | g.91313506C>G | CA487829748 | CCDC88C | c.2310G>C (p.Arg770=) c.2202G>C (p.Arg734=) n.2438G>C n.2436G>C | |
14 | g.91313506C>T | CA487829749 | CCDC88C | c.2310G>A (p.Arg770=) c.2202G>A (p.Arg734=) n.2438G>A n.2436G>A | gnomAD v4 |
14 | g.91313507C>A | CA7309692 | CCDC88C | c.2309G>T (p.Arg770Leu) c.2201G>T (p.Arg734Leu) n.2437G>T n.2435G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313507C= | CA2154878974 | CCDC88C | c.2309G= (p.Arg770=) c.2201G= (p.Arg734=) n.2437G= n.2435G= | |
14 | g.91313507C>G | CA390630504 | CCDC88C | c.2309G>C (p.Arg770Pro) c.2201G>C (p.Arg734Pro) n.2437G>C n.2435G>C | gnomAD v4 |
14 | g.91313507C>T | CA7309691 | CCDC88C | c.2309G>A (p.Arg770Gln) c.2201G>A (p.Arg734Gln) n.2437G>A n.2435G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313508G>A | CA7309693 | CCDC88C | c.2308C>T (p.Arg770Trp) c.2200C>T (p.Arg734Trp) n.2436C>T n.2434C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313508G>C | CA390630508 | CCDC88C | c.2308C>G (p.Arg770Gly) c.2200C>G (p.Arg734Gly) n.2436C>G n.2434C>G | |
14 | g.91313508G= | CA2154878978 | CCDC88C | c.2308C= (p.Arg770=) c.2200C= (p.Arg734=) n.2436C= n.2434C= | |
14 | g.91313508G>T | CA487829750 | CCDC88C | c.2308C>A (p.Arg770=) c.2200C>A (p.Arg734=) n.2436C>A n.2434C>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313509G>A | CA487829753 | CCDC88C | c.2307C>T (p.Leu769=) c.2199C>T (p.Leu733=) n.2435C>T n.2433C>T | |
14 | g.91313509G>C | CA487829752 | CCDC88C | c.2307C>G (p.Leu769=) c.2199C>G (p.Leu733=) n.2435C>G n.2433C>G | |
14 | g.91313509G= | CA2154878980 | CCDC88C | c.2307C= (p.Leu769=) c.2199C= (p.Leu733=) n.2435C= n.2433C= | |
14 | g.91313509G>T | CA487829751 | CCDC88C | c.2307C>A (p.Leu769=) c.2199C>A (p.Leu733=) n.2435C>A n.2433C>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313510A>C | CA390630514 | CCDC88C | c.2306T>G (p.Leu769Arg) c.2198T>G (p.Leu733Arg) n.2434T>G n.2432T>G | |
14 | g.91313510A>G | CA390630512 | CCDC88C | c.2306T>C (p.Leu769Pro) c.2198T>C (p.Leu733Pro) n.2434T>C n.2432T>C | |
14 | g.91313510A>T | CA390630510 | CCDC88C | c.2306T>A (p.Leu769His) c.2198T>A (p.Leu733His) n.2434T>A n.2432T>A | |
14 | g.91313511G>A | CA7309694 | CCDC88C | c.2305C>T (p.Leu769Phe) c.2197C>T (p.Leu733Phe) n.2433C>T n.2431C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313511G>C | CA390630516 | CCDC88C | c.2305C>G (p.Leu769Val) c.2197C>G (p.Leu733Val) n.2433C>G n.2431C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313511G= | CA2154878984 | CCDC88C | c.2305C= (p.Leu769=) c.2197C= (p.Leu733=) n.2433C= n.2431C= | |
14 | g.91313511G>T | CA390630518 | CCDC88C | c.2305C>A (p.Leu769Ile) c.2197C>A (p.Leu733Ile) n.2433C>A n.2431C>A | dbSNP gnomAD v4 |
14 | g.91313512G>A | CA487829754 | CCDC88C | c.2304C>T (p.Asn768=) c.2196C>T (p.Asn732=) n.2432C>T n.2430C>T | |
14 | g.91313512G>C | CA390630519 | CCDC88C | c.2304C>G (p.Asn768Lys) c.2196C>G (p.Asn732Lys) n.2432C>G n.2430C>G | |
14 | g.91313512G= | CA2154878987 | CCDC88C | c.2304C= (p.Asn768=) c.2196C= (p.Asn732=) n.2432C= n.2430C= | |
14 | g.91313512G>T | CA390630521 | CCDC88C | c.2304C>A (p.Asn768Lys) c.2196C>A (p.Asn732Lys) n.2432C>A n.2430C>A | dbSNP gnomAD v4 |
14 | g.91313513T>A | CA390630523 | CCDC88C | c.2303A>T (p.Asn768Ile) c.2195A>T (p.Asn732Ile) n.2431A>T n.2429A>T | |
14 | g.91313513T>C | CA390630525 | CCDC88C | c.2303A>G (p.Asn768Ser) c.2195A>G (p.Asn732Ser) n.2431A>G n.2429A>G | |
14 | g.91313513T>G | CA390630527 | CCDC88C | c.2303A>C (p.Asn768Thr) c.2195A>C (p.Asn732Thr) n.2431A>C n.2429A>C | |
14 | g.91313514T>A | CA390630529 | CCDC88C | c.2302A>T (p.Asn768Tyr) c.2194A>T (p.Asn732Tyr) n.2430A>T n.2428A>T | |
14 | g.91313514T>C | CA390630530 | CCDC88C | c.2302A>G (p.Asn768Asp) c.2194A>G (p.Asn732Asp) n.2430A>G n.2428A>G | |
14 | g.91313514T>G | CA390630532 | CCDC88C | c.2302A>C (p.Asn768His) c.2194A>C (p.Asn732His) n.2430A>C n.2428A>C | |
14 | g.91313516_91313517dup | CA2626131089 | CCDC88C | c.2301_2302dup (p.Asn768ArgfsTer?) c.2193_2194dup (p.Asn732ArgfsTer?) n.2429_2430dup n.2427_2428dup | gnomAD v4 |
14 | g.91313515C>A | CA390630534 | CCDC88C | c.2301G>T (p.Glu767Asp) c.2193G>T (p.Glu731Asp) n.2429G>T n.2427G>T | |
14 | g.91313515C>G | CA390630536 | CCDC88C | c.2301G>C (p.Glu767Asp) c.2193G>C (p.Glu731Asp) n.2429G>C n.2427G>C | |
14 | g.91313515C>T | CA487829755 | CCDC88C | c.2301G>A (p.Glu767=) c.2193G>A (p.Glu731=) n.2429G>A n.2427G>A | ClinVar |
14 | g.91313516T>A | CA390630542 | CCDC88C | c.2300A>T (p.Glu767Val) c.2192A>T (p.Glu731Val) n.2428A>T n.2426A>T | |
14 | g.91313516T>C | CA390630540 | CCDC88C | c.2300A>G (p.Glu767Gly) c.2192A>G (p.Glu731Gly) n.2428A>G n.2426A>G | gnomAD v4 |
14 | g.91313516T>G | CA390630538 | CCDC88C | c.2300A>C (p.Glu767Ala) c.2192A>C (p.Glu731Ala) n.2428A>C n.2426A>C | |
14 | g.91313517C>A | CA390630544 | CCDC88C | c.2299G>T (p.Glu767Ter) c.2191G>T (p.Glu731Ter) n.2427G>T n.2425G>T | |
14 | g.91313517C>G | CA390630547 | CCDC88C | c.2299G>C (p.Glu767Gln) c.2191G>C (p.Glu731Gln) n.2427G>C n.2425G>C | |
14 | g.91313517C>T | CA390630545 | CCDC88C | c.2299G>A (p.Glu767Lys) c.2191G>A (p.Glu731Lys) n.2427G>A n.2425G>A | |
14 | g.91313518A>C | CA487829756 | CCDC88C | c.2298T>G (p.Ala766=) c.2190T>G (p.Ala730=) n.2426T>G n.2424T>G | |
14 | g.91313518A>G | CA487829757 | CCDC88C | c.2298T>C (p.Ala766=) c.2190T>C (p.Ala730=) n.2426T>C n.2424T>C | |
14 | g.91313518A>T | CA487829758 | CCDC88C | c.2298T>A (p.Ala766=) c.2190T>A (p.Ala730=) n.2426T>A n.2424T>A | |
14 | g.91313519G>A | CA390630549 | CCDC88C | c.2297C>T (p.Ala766Val) c.2189C>T (p.Ala730Val) n.2425C>T n.2423C>T | |
14 | g.91313519G>C | CA390630551 | CCDC88C | c.2297C>G (p.Ala766Gly) c.2189C>G (p.Ala730Gly) n.2425C>G n.2423C>G | |
14 | g.91313519G>T | CA390630550 | CCDC88C | c.2297C>A (p.Ala766Asp) c.2189C>A (p.Ala730Asp) n.2425C>A n.2423C>A | |
14 | g.91313519_91313525delinsGCGCTCA | CA2154878989 | CCDC88C | c.2291_2297delinsTGAGCGC (p.Val764=) c.2183_2189delinsTGAGCGC (p.Val728=) n.2419_2425delinsTGAGCGC n.2417_2423delinsTGAGCGC | |
14 | g.91313520C>A | CA390630554 | CCDC88C | c.2296G>T (p.Ala766Ser) c.2188G>T (p.Ala730Ser) n.2424G>T n.2422G>T | gnomAD v4 |
14 | g.91313520C= | CA2154878996 | CCDC88C | c.2296G= (p.Ala766=) c.2188G= (p.Ala730=) n.2424G= n.2422G= | |
14 | g.91313520C>G | CA390630555 | CCDC88C | c.2296G>C (p.Ala766Pro) c.2188G>C (p.Ala730Pro) n.2424G>C n.2422G>C | |
14 | g.91313520C>T | CA7309695 | CCDC88C | c.2296G>A (p.Ala766Thr) c.2188G>A (p.Ala730Thr) n.2424G>A n.2422G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313525_91313530del | CA965913941 | CCDC88C | c.2291_2296del (p.Val764_Ser765del) c.2183_2188del (p.Val728_Ser729del) n.2419_2424del n.2417_2422del | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313521G>A | CA7309696 | CCDC88C | c.2295C>T (p.Ser765=) c.2187C>T (p.Ser729=) n.2423C>T n.2421C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313521G>C | CA390630559 | CCDC88C | c.2295C>G (p.Ser765Arg) c.2187C>G (p.Ser729Arg) n.2423C>G n.2421C>G | |
14 | g.91313521G= | CA2154878998 | CCDC88C | c.2295C= (p.Ser765=) c.2187C= (p.Ser729=) n.2423C= n.2421C= | |
14 | g.91313521G>T | CA390630561 | CCDC88C | c.2295C>A (p.Ser765Arg) c.2187C>A (p.Ser729Arg) n.2423C>A n.2421C>A | gnomAD v4 |
14 | g.91313522C>A | CA390630564 | CCDC88C | c.2294G>T (p.Ser765Ile) c.2186G>T (p.Ser729Ile) n.2422G>T n.2420G>T | |
14 | g.91313522C= | CA2154879000 | CCDC88C | c.2294G= (p.Ser765=) c.2186G= (p.Ser729=) n.2422G= n.2420G= | |
14 | g.91313522C>G | CA390630566 | CCDC88C | c.2294G>C (p.Ser765Thr) c.2186G>C (p.Ser729Thr) n.2422G>C n.2420G>C | |
14 | g.91313522C>T | CA390630568 | CCDC88C | c.2294G>A (p.Ser765Asn) c.2186G>A (p.Ser729Asn) n.2422G>A n.2420G>A | dbSNP gnomAD v4 |
14 | g.91313523T>A | CA390630570 | CCDC88C | c.2293A>T (p.Ser765Cys) c.2185A>T (p.Ser729Cys) n.2421A>T n.2419A>T | |
14 | g.91313523T>C | CA390630572 | CCDC88C | c.2293A>G (p.Ser765Gly) c.2185A>G (p.Ser729Gly) n.2421A>G n.2419A>G | gnomAD v4 |
14 | g.91313523T>G | CA390630573 | CCDC88C | c.2293A>C (p.Ser765Arg) c.2185A>C (p.Ser729Arg) n.2421A>C n.2419A>C | |
14 | g.91313524C>A | CA487829760 | CCDC88C | c.2292G>T (p.Val764=) c.2184G>T (p.Val728=) n.2420G>T n.2418G>T | |
14 | g.91313524C= | CA2154879001 | CCDC88C | c.2292G= (p.Val764=) c.2184G= (p.Val728=) n.2420G= n.2418G= | |
14 | g.91313524C>G | CA487829761 | CCDC88C | c.2292G>C (p.Val764=) c.2184G>C (p.Val728=) n.2420G>C n.2418G>C | |
14 | g.91313524C>T | CA487829759 | CCDC88C | c.2292G>A (p.Val764=) c.2184G>A (p.Val728=) n.2420G>A n.2418G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313525A>C | CA390630580 | CCDC88C | c.2291T>G (p.Val764Gly) c.2183T>G (p.Val728Gly) n.2419T>G n.2417T>G | |
14 | g.91313525A>G | CA390630577 | CCDC88C | c.2291T>C (p.Val764Ala) c.2183T>C (p.Val728Ala) n.2419T>C n.2417T>C | |
14 | g.91313525A>T | CA390630578 | CCDC88C | c.2291T>A (p.Val764Glu) c.2183T>A (p.Val728Glu) n.2419T>A n.2417T>A | |
14 | g.91313526C>A | CA7309698 | CCDC88C | c.2290G>T (p.Val764Leu) c.2182G>T (p.Val728Leu) n.2418G>T n.2416G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313526C= | CA2154879004 | CCDC88C | c.2290G= (p.Val764=) c.2182G= (p.Val728=) n.2418G= n.2416G= | |
14 | g.91313526C>G | CA390630583 | CCDC88C | c.2290G>C (p.Val764Leu) c.2182G>C (p.Val728Leu) n.2418G>C n.2416G>C | |
14 | g.91313526C>T | CA7309697 | CCDC88C | c.2290G>A (p.Val764Met) c.2182G>A (p.Val728Met) n.2418G>A n.2416G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313527G>A | CA7309699 | CCDC88C | c.2289C>T (p.Ser763=) c.2181C>T (p.Ser727=) n.2417C>T n.2415C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313527G>C | CA390630587 | CCDC88C | c.2289C>G (p.Ser763Arg) c.2181C>G (p.Ser727Arg) n.2417C>G n.2415C>G | |
14 | g.91313527G= | CA2154879007 | CCDC88C | c.2289C= (p.Ser763=) c.2181C= (p.Ser727=) n.2417C= n.2415C= | |
14 | g.91313527G>T | CA390630588 | CCDC88C | c.2289C>A (p.Ser763Arg) c.2181C>A (p.Ser727Arg) n.2417C>A n.2415C>A | |
14 | g.91313528C>A | CA265570001 | CCDC88C | c.2288G>T (p.Ser763Ile) c.2180G>T (p.Ser727Ile) n.2416G>T n.2414G>T | dbSNP |
14 | g.91313528C= | CA2154879011 | CCDC88C | c.2288G= (p.Ser763=) c.2180G= (p.Ser727=) n.2416G= n.2414G= | |
14 | g.91313528C>G | CA390630591 | CCDC88C | c.2288G>C (p.Ser763Thr) c.2180G>C (p.Ser727Thr) n.2416G>C n.2414G>C | |
14 | g.91313528C>T | CA390630592 | CCDC88C | c.2288G>A (p.Ser763Asn) c.2180G>A (p.Ser727Asn) n.2416G>A n.2414G>A | gnomAD v4 |
14 | g.91313529T>A | CA390630594 | CCDC88C | c.2287A>T (p.Ser763Cys) c.2179A>T (p.Ser727Cys) n.2415A>T n.2413A>T | |
14 | g.91313529T>C | CA390630596 | CCDC88C | c.2287A>G (p.Ser763Gly) c.2179A>G (p.Ser727Gly) n.2415A>G n.2413A>G | gnomAD v4 |
14 | g.91313529T>G | CA390630597 | CCDC88C | c.2287A>C (p.Ser763Arg) c.2179A>C (p.Ser727Arg) n.2415A>C n.2413A>C |