Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.91313404C>A | CA390630092 | CCDC88C | c.2412G>T (p.Glu804Asp) c.2304G>T (p.Glu768Asp) n.2540G>T n.2538G>T | |
14 | g.91313404C>G | CA390630093 | CCDC88C | c.2412G>C (p.Glu804Asp) c.2304G>C (p.Glu768Asp) n.2540G>C n.2538G>C | |
14 | g.91313404C>T | CA487829605 | CCDC88C | c.2412G>A (p.Glu804=) c.2304G>A (p.Glu768=) n.2540G>A n.2538G>A | |
14 | g.91313405T>A | CA390630094 | CCDC88C | c.2411A>T (p.Glu804Val) c.2303A>T (p.Glu768Val) n.2539A>T n.2537A>T | dbSNP gnomAD v4 |
14 | g.91313405T>C | CA390630096 | CCDC88C | c.2411A>G (p.Glu804Gly) c.2303A>G (p.Glu768Gly) n.2539A>G n.2537A>G | dbSNP |
14 | g.91313405T>G | CA390630095 | CCDC88C | c.2411A>C (p.Glu804Ala) c.2303A>C (p.Glu768Ala) n.2539A>C n.2537A>C | |
14 | g.91313405T= | CA2154878804 | CCDC88C | c.2411A= (p.Glu804=) c.2303A= (p.Glu768=) n.2539A= n.2537A= | |
14 | g.91313406C>A | CA390630097 | CCDC88C | c.2410G>T (p.Glu804Ter) c.2302G>T (p.Glu768Ter) n.2538G>T n.2536G>T | |
14 | g.91313406C>G | CA390630099 | CCDC88C | c.2410G>C (p.Glu804Gln) c.2302G>C (p.Glu768Gln) n.2538G>C n.2536G>C | |
14 | g.91313406C>T | CA390630098 | CCDC88C | c.2410G>A (p.Glu804Lys) c.2302G>A (p.Glu768Lys) n.2538G>A n.2536G>A | |
14 | g.91313407C>A | CA487829606 | CCDC88C | c.2409G>T (p.Leu803=) c.2301G>T (p.Leu767=) n.2537G>T n.2535G>T | |
14 | g.91313407C>G | CA487829607 | CCDC88C | c.2409G>C (p.Leu803=) c.2301G>C (p.Leu767=) n.2537G>C n.2535G>C | |
14 | g.91313407C>T | CA487829608 | CCDC88C | c.2409G>A (p.Leu803=) c.2301G>A (p.Leu767=) n.2537G>A n.2535G>A | ClinVar |
14 | g.91313408A= | CA2154878808 | CCDC88C | c.2408T= (p.Leu803=) c.2300T= (p.Leu767=) n.2536T= n.2534T= | |
14 | g.91313408A>C | CA390630100 | CCDC88C | c.2408T>G (p.Leu803Arg) c.2300T>G (p.Leu767Arg) n.2536T>G n.2534T>G | gnomAD v4 |
14 | g.91313408A>G | CA7309662 | CCDC88C | c.2408T>C (p.Leu803Pro) c.2300T>C (p.Leu767Pro) n.2536T>C n.2534T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313408A>T | CA7309661 | CCDC88C | c.2408T>A (p.Leu803Gln) c.2300T>A (p.Leu767Gln) n.2536T>A n.2534T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313409G>A | CA7309663 | CCDC88C | c.2407C>T (p.Leu803=) c.2299C>T (p.Leu767=) n.2535C>T n.2533C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313409G>C | CA390630102 | CCDC88C | c.2407C>G (p.Leu803Val) c.2299C>G (p.Leu767Val) n.2535C>G n.2533C>G | COSMIC COSMIC |
14 | g.91313409G= | CA2154878812 | CCDC88C | c.2407C= (p.Leu803=) c.2299C= (p.Leu767=) n.2535C= n.2533C= | |
14 | g.91313409G>T | CA390630101 | CCDC88C | c.2407C>A (p.Leu803Met) c.2299C>A (p.Leu767Met) n.2535C>A n.2533C>A | |
14 | g.91313410G>A | CA487829609 | CCDC88C | c.2406C>T (p.Asp802=) c.2298C>T (p.Asp766=) n.2534C>T n.2532C>T | |
14 | g.91313410G>C | CA390630103 | CCDC88C | c.2406C>G (p.Asp802Glu) c.2298C>G (p.Asp766Glu) n.2534C>G n.2532C>G | |
14 | g.91313410G>T | CA390630104 | CCDC88C | c.2406C>A (p.Asp802Glu) c.2298C>A (p.Asp766Glu) n.2534C>A n.2532C>A | |
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.91313411T>A | CA390630105 | CCDC88C | c.2405A>T (p.Asp802Val) c.2297A>T (p.Asp766Val) n.2533A>T n.2531A>T | |
14 | g.91313411T>C | CA390630107 | CCDC88C | c.2405A>G (p.Asp802Gly) c.2297A>G (p.Asp766Gly) n.2533A>G n.2531A>G | dbSNP gnomAD v4 |
14 | g.91313411T>G | CA390630106 | CCDC88C | c.2405A>C (p.Asp802Ala) c.2297A>C (p.Asp766Ala) n.2533A>C n.2531A>C | |
14 | g.91313411T= | CA2154878815 | CCDC88C | c.2405A= (p.Asp802=) c.2297A= (p.Asp766=) n.2533A= n.2531A= | |
14 | g.91313412C>A | CA390630108 | CCDC88C | c.2404G>T (p.Asp802Tyr) c.2296G>T (p.Asp766Tyr) n.2532G>T n.2530G>T | |
14 | g.91313412C>G | CA390630110 | CCDC88C | c.2404G>C (p.Asp802His) c.2296G>C (p.Asp766His) n.2532G>C n.2530G>C | COSMIC COSMIC |
14 | g.91313412C>T | CA390630109 | CCDC88C | c.2404G>A (p.Asp802Asn) c.2296G>A (p.Asp766Asn) n.2532G>A n.2530G>A | gnomAD v4 |
14 | g.91313413C>A | CA487829612 | CCDC88C | c.2403G>T (p.Arg801=) c.2295G>T (p.Arg765=) n.2531G>T n.2529G>T | dbSNP |
14 | g.91313413C= | CA2154878818 | CCDC88C | c.2403G= (p.Arg801=) c.2295G= (p.Arg765=) n.2531G= n.2529G= | |
14 | g.91313413C>G | CA487829613 | CCDC88C | c.2403G>C (p.Arg801=) c.2295G>C (p.Arg765=) n.2531G>C n.2529G>C | |
14 | g.91313413C>T | CA487829614 | CCDC88C | c.2403G>A (p.Arg801=) c.2295G>A (p.Arg765=) n.2531G>A n.2529G>A | ClinVar dbSNP |
14 | g.91313414C>A | CA390630113 | CCDC88C | c.2402G>T (p.Arg801Leu) c.2294G>T (p.Arg765Leu) n.2530G>T n.2528G>T | gnomAD v4 |
14 | g.91313414C= | CA2154878820 | CCDC88C | c.2402G= (p.Arg801=) c.2294G= (p.Arg765=) n.2530G= n.2528G= | |
14 | g.91313414C>G | CA390630114 | CCDC88C | c.2402G>C (p.Arg801Pro) c.2294G>C (p.Arg765Pro) n.2530G>C n.2528G>C | |
14 | g.91313414C>T | CA7309664 | CCDC88C | c.2402G>A (p.Arg801Gln) c.2294G>A (p.Arg765Gln) n.2530G>A n.2528G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313415G>A | CA7309665 | CCDC88C | c.2401C>T (p.Arg801Trp) c.2293C>T (p.Arg765Trp) n.2529C>T n.2527C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313415G>C | CA390630117 | CCDC88C | c.2401C>G (p.Arg801Gly) c.2293C>G (p.Arg765Gly) n.2529C>G n.2527C>G | |
14 | g.91313415G= | CA2154878828 | CCDC88C | c.2401C= (p.Arg801=) c.2293C= (p.Arg765=) n.2529C= n.2527C= | |
14 | g.91313415G>T | CA487829615 | CCDC88C | c.2401C>A (p.Arg801=) c.2293C>A (p.Arg765=) n.2529C>A n.2527C>A | gnomAD v4 |
14 | g.91313416C>A | CA487829616 | CCDC88C | c.2400G>T (p.Arg800=) c.2292G>T (p.Arg764=) n.2528G>T n.2526G>T | |
14 | g.91313416C>G | CA487829617 | CCDC88C | c.2400G>C (p.Arg800=) c.2292G>C (p.Arg764=) n.2528G>C n.2526G>C | |
14 | g.91313416C>T | CA487829618 | CCDC88C | c.2400G>A (p.Arg800=) c.2292G>A (p.Arg764=) n.2528G>A n.2526G>A | |
14 | g.91313417C>A | CA390630119 | CCDC88C | c.2399G>T (p.Arg800Leu) c.2291G>T (p.Arg764Leu) n.2527G>T n.2525G>T | |
14 | g.91313417C= | CA2154878830 | CCDC88C | c.2399G= (p.Arg800=) c.2291G= (p.Arg764=) n.2527G= n.2525G= | |
14 | g.91313417C>G | CA390630121 | CCDC88C | c.2399G>C (p.Arg800Pro) c.2291G>C (p.Arg764Pro) n.2527G>C n.2525G>C | |
14 | g.91313417C>T | CA7309666 | CCDC88C | c.2399G>A (p.Arg800Gln) c.2291G>A (p.Arg764Gln) n.2527G>A n.2525G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313418G>A | CA7309667 | CCDC88C | c.2398C>T (p.Arg800Trp) c.2290C>T (p.Arg764Trp) n.2526C>T n.2524C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313418G>C | CA390630126 | CCDC88C | c.2398C>G (p.Arg800Gly) c.2290C>G (p.Arg764Gly) n.2526C>G n.2524C>G | |
14 | g.91313418G= | CA2154878832 | CCDC88C | c.2398C= (p.Arg800=) c.2290C= (p.Arg764=) n.2526C= n.2524C= | |
14 | g.91313418G>T | CA487829619 | CCDC88C | c.2398C>A (p.Arg800=) c.2290C>A (p.Arg764=) n.2526C>A n.2524C>A | gnomAD v4 |
14 | g.91313419C>A | CA487829620 | CCDC88C | c.2397G>T (p.Leu799=) c.2289G>T (p.Leu763=) n.2525G>T n.2523G>T | |
14 | g.91313419C>G | CA487829621 | CCDC88C | c.2397G>C (p.Leu799=) c.2289G>C (p.Leu763=) n.2525G>C n.2523G>C | |
14 | g.91313419C>T | CA487829622 | CCDC88C | c.2397G>A (p.Leu799=) c.2289G>A (p.Leu763=) n.2525G>A n.2523G>A | |
14 | g.91313420A= | CA2154878834 | CCDC88C | c.2396T= (p.Leu799=) c.2288T= (p.Leu763=) n.2524T= n.2522T= | |
14 | g.91313420A>C | CA390630128 | CCDC88C | c.2396T>G (p.Leu799Arg) c.2288T>G (p.Leu763Arg) n.2524T>G n.2522T>G | |
14 | g.91313420A>G | CA390630130 | CCDC88C | c.2396T>C (p.Leu799Pro) c.2288T>C (p.Leu763Pro) n.2524T>C n.2522T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313420A>T | CA390630132 | CCDC88C | c.2396T>A (p.Leu799Gln) c.2288T>A (p.Leu763Gln) n.2524T>A n.2522T>A | |
14 | g.91313421G>A | CA487829623 | CCDC88C | c.2395C>T (p.Leu799=) c.2287C>T (p.Leu763=) n.2523C>T n.2521C>T | dbSNP gnomAD v2 |
14 | g.91313421G>C | CA390630134 | CCDC88C | c.2395C>G (p.Leu799Val) c.2287C>G (p.Leu763Val) n.2523C>G n.2521C>G | |
14 | g.91313421G= | CA2154878837 | CCDC88C | c.2395C= (p.Leu799=) c.2287C= (p.Leu763=) n.2523C= n.2521C= | |
14 | g.91313421G>T | CA390630136 | CCDC88C | c.2395C>A (p.Leu799Met) c.2287C>A (p.Leu763Met) n.2523C>A n.2521C>A | gnomAD v4 |
14 | g.91313422C>A | CA7309668 | CCDC88C | c.2394G>T (p.Ala798=) c.2286G>T (p.Ala762=) n.2522G>T n.2520G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313422C= | CA2154878840 | CCDC88C | c.2394G= (p.Ala798=) c.2286G= (p.Ala762=) n.2522G= n.2520G= | |
14 | g.91313422C>G | CA7309670 | CCDC88C | c.2394G>C (p.Ala798=) c.2286G>C (p.Ala762=) n.2522G>C n.2520G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313422C>T | CA7309669 | CCDC88C | c.2394G>A (p.Ala798=) c.2286G>A (p.Ala762=) n.2522G>A n.2520G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.91313423G>A | CA7309671 | CCDC88C | c.2393C>T (p.Ala798Val) c.2285C>T (p.Ala762Val) n.2521C>T n.2519C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.91313423G>C | CA390630141 | CCDC88C | c.2393C>G (p.Ala798Gly) c.2285C>G (p.Ala762Gly) n.2521C>G n.2519C>G | |
14 | g.91313423G= | CA2154878846 | CCDC88C | c.2393C= (p.Ala798=) c.2285C= (p.Ala762=) n.2521C= n.2519C= | |
14 | g.91313423G>T | CA390630143 | CCDC88C | c.2393C>A (p.Ala798Glu) c.2285C>A (p.Ala762Glu) n.2521C>A n.2519C>A | gnomAD v4 |
14 | g.91313424C>A | CA390630146 | CCDC88C | c.2392G>T (p.Ala798Ser) c.2284G>T (p.Ala762Ser) n.2520G>T n.2518G>T | gnomAD v4 |
14 | g.91313424C= | CA2154878851 | CCDC88C | c.2392G= (p.Ala798=) c.2284G= (p.Ala762=) n.2520G= n.2518G= | |
14 | g.91313424C>G | CA390630147 | CCDC88C | c.2392G>C (p.Ala798Pro) c.2284G>C (p.Ala762Pro) n.2520G>C n.2518G>C | |
14 | g.91313424C>T | CA390630149 | CCDC88C | c.2392G>A (p.Ala798Thr) c.2284G>A (p.Ala762Thr) n.2520G>A n.2518G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313425C>A | CA390630151 | CCDC88C | c.2391G>T (p.Gln797His) c.2283G>T (p.Gln761His) n.2519G>T n.2517G>T | gnomAD v4 |
14 | g.91313425C= | CA2154878853 | CCDC88C | c.2391G= (p.Gln797=) c.2283G= (p.Gln761=) n.2519G= n.2517G= | |
14 | g.91313425C>G | CA390630153 | CCDC88C | c.2391G>C (p.Gln797His) c.2283G>C (p.Gln761His) n.2519G>C n.2517G>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313425C>T | CA487829624 | CCDC88C | c.2391G>A (p.Gln797=) c.2283G>A (p.Gln761=) n.2519G>A n.2517G>A | gnomAD v4 |
14 | g.91313426T>A | CA390630159 | CCDC88C | c.2390A>T (p.Gln797Leu) c.2282A>T (p.Gln761Leu) n.2518A>T n.2516A>T | |
14 | g.91313426T>C | CA390630157 | CCDC88C | c.2390A>G (p.Gln797Arg) c.2282A>G (p.Gln761Arg) n.2518A>G n.2516A>G | gnomAD v4 |
14 | g.91313426T>G | CA390630155 | CCDC88C | c.2390A>C (p.Gln797Pro) c.2282A>C (p.Gln761Pro) n.2518A>C n.2516A>C | |
14 | g.91313427G>A | CA390630164 | CCDC88C | c.2389C>T (p.Gln797Ter) c.2281C>T (p.Gln761Ter) n.2517C>T n.2515C>T | |
14 | g.91313427G>C | CA390630161 | CCDC88C | c.2389C>G (p.Gln797Glu) c.2281C>G (p.Gln761Glu) n.2517C>G n.2515C>G | |
14 | g.91313427G>T | CA390630163 | CCDC88C | c.2389C>A (p.Gln797Lys) c.2281C>A (p.Gln761Lys) n.2517C>A n.2515C>A | gnomAD v4 |
14 | g.91313428G>A | CA487829625 | CCDC88C | c.2388C>T (p.Arg796=) c.2280C>T (p.Arg760=) n.2516C>T n.2514C>T | |
14 | g.91313428G>C | CA487829627 | CCDC88C | c.2388C>G (p.Arg796=) c.2280C>G (p.Arg760=) n.2516C>G n.2514C>G | |
14 | g.91313428G>T | CA487829626 | CCDC88C | c.2388C>A (p.Arg796=) c.2280C>A (p.Arg760=) n.2516C>A n.2514C>A | ClinVar 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 |