Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.46549802G>ACA410583869DIP2Ac.2554G>A (p.Asp852Asn)
c.2542G>A (p.Asp848Asn)
c.2662G>A (p.Asp888Asn)
c.2659G>A (p.Asp887Asn)
c.2557G>A (p.Asp853Asn)
c.2530G>A (p.Asp844Asn)
c.2407G>A (p.Asp803Asn)
c.*12G>A (n.*12G>A)
c.2425G>A (p.Asp809Asn)
c.2302G>A (p.Asp768Asn)
 dbSNP gnomAD v4
21g.46549802G>CCA410583870DIP2Ac.2554G>C (p.Asp852His)
c.2542G>C (p.Asp848His)
c.2662G>C (p.Asp888His)
c.2659G>C (p.Asp887His)
c.2557G>C (p.Asp853His)
c.2530G>C (p.Asp844His)
c.2407G>C (p.Asp803His)
c.*12G>C (n.*12G>C)
c.2425G>C (p.Asp809His)
c.2302G>C (p.Asp768His)
21g.46549802G=CA2392733466DIP2Ac.2554G= (p.Asp852=)
c.2542G= (p.Asp848=)
c.2662G= (p.Asp888=)
c.2659G= (p.Asp887=)
c.2557G= (p.Asp853=)
c.2530G= (p.Asp844=)
c.2407G= (p.Asp803=)
c.*12G= (n.*12G=)
c.2425G= (p.Asp809=)
c.2302G= (p.Asp768=)
21g.46549802G>TCA410583871DIP2Ac.2554G>T (p.Asp852Tyr)
c.2542G>T (p.Asp848Tyr)
c.2662G>T (p.Asp888Tyr)
c.2659G>T (p.Asp887Tyr)
c.2557G>T (p.Asp853Tyr)
c.2530G>T (p.Asp844Tyr)
c.2407G>T (p.Asp803Tyr)
c.*12G>T (n.*12G>T)
c.2425G>T (p.Asp809Tyr)
c.2302G>T (p.Asp768Tyr)
 gnomAD v4
21g.46549803A>CCA410583872DIP2Ac.2555A>C (p.Asp852Ala)
c.2543A>C (p.Asp848Ala)
c.2663A>C (p.Asp888Ala)
c.2660A>C (p.Asp887Ala)
c.2558A>C (p.Asp853Ala)
c.2531A>C (p.Asp844Ala)
c.2408A>C (p.Asp803Ala)
c.*13A>C (n.*13A>C)
c.2426A>C (p.Asp809Ala)
c.2303A>C (p.Asp768Ala)
21g.46549803A>GCA410583874DIP2Ac.2555A>G (p.Asp852Gly)
c.2543A>G (p.Asp848Gly)
c.2663A>G (p.Asp888Gly)
c.2660A>G (p.Asp887Gly)
c.2558A>G (p.Asp853Gly)
c.2531A>G (p.Asp844Gly)
c.2408A>G (p.Asp803Gly)
c.*13A>G (n.*13A>G)
c.2426A>G (p.Asp809Gly)
c.2303A>G (p.Asp768Gly)
21g.46549803A>TCA410583873DIP2Ac.2555A>T (p.Asp852Val)
c.2543A>T (p.Asp848Val)
c.2663A>T (p.Asp888Val)
c.2660A>T (p.Asp887Val)
c.2558A>T (p.Asp853Val)
c.2531A>T (p.Asp844Val)
c.2408A>T (p.Asp803Val)
c.*13A>T (n.*13A>T)
c.2426A>T (p.Asp809Val)
c.2303A>T (p.Asp768Val)
21g.46549804C>ACA410583875DIP2Ac.2556C>A (p.Asp852Glu)
c.2544C>A (p.Asp848Glu)
c.2664C>A (p.Asp888Glu)
c.2661C>A (p.Asp887Glu)
c.2559C>A (p.Asp853Glu)
c.2532C>A (p.Asp844Glu)
c.2409C>A (p.Asp803Glu)
c.*14C>A (n.*14C>A)
c.2427C>A (p.Asp809Glu)
c.2304C>A (p.Asp768Glu)
21g.46549804C=CA2392733467DIP2Ac.2556C= (p.Asp852=)
c.2544C= (p.Asp848=)
c.2664C= (p.Asp888=)
c.2661C= (p.Asp887=)
c.2559C= (p.Asp853=)
c.2532C= (p.Asp844=)
c.2409C= (p.Asp803=)
c.*14C= (n.*14C=)
c.2427C= (p.Asp809=)
c.2304C= (p.Asp768=)
21g.46549804C>GCA410583876DIP2Ac.2556C>G (p.Asp852Glu)
c.2544C>G (p.Asp848Glu)
c.2664C>G (p.Asp888Glu)
c.2661C>G (p.Asp887Glu)
c.2559C>G (p.Asp853Glu)
c.2532C>G (p.Asp844Glu)
c.2409C>G (p.Asp803Glu)
c.*14C>G (n.*14C>G)
c.2427C>G (p.Asp809Glu)
c.2304C>G (p.Asp768Glu)
21g.46549804C>TCA10082465DIP2Ac.2556C>T (p.Asp852=)
c.2544C>T (p.Asp848=)
c.2664C>T (p.Asp888=)
c.2661C>T (p.Asp887=)
c.2559C>T (p.Asp853=)
c.2532C>T (p.Asp844=)
c.2409C>T (p.Asp803=)
c.*14C>T (n.*14C>T)
c.2427C>T (p.Asp809=)
c.2304C>T (p.Asp768=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549805G>ACA10082466DIP2Ac.2557G>A (p.Asp853Asn)
c.2545G>A (p.Asp849Asn)
c.2665G>A (p.Asp889Asn)
c.2662G>A (p.Asp888Asn)
c.2560G>A (p.Asp854Asn)
c.2533G>A (p.Asp845Asn)
c.2410G>A (p.Asp804Asn)
c.*15G>A (n.*15G>A)
c.2428G>A (p.Asp810Asn)
c.2305G>A (p.Asp769Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549805G>CCA410583877DIP2Ac.2557G>C (p.Asp853His)
c.2545G>C (p.Asp849His)
c.2665G>C (p.Asp889His)
c.2662G>C (p.Asp888His)
c.2560G>C (p.Asp854His)
c.2533G>C (p.Asp845His)
c.2410G>C (p.Asp804His)
c.*15G>C (n.*15G>C)
c.2428G>C (p.Asp810His)
c.2305G>C (p.Asp769His)
21g.46549805G=CA2392733468DIP2Ac.2557G= (p.Asp853=)
c.2545G= (p.Asp849=)
c.2665G= (p.Asp889=)
c.2662G= (p.Asp888=)
c.2560G= (p.Asp854=)
c.2533G= (p.Asp845=)
c.2410G= (p.Asp804=)
c.*15G= (n.*15G=)
c.2428G= (p.Asp810=)
c.2305G= (p.Asp769=)
21g.46549805G>TCA410583878DIP2Ac.2557G>T (p.Asp853Tyr)
c.2545G>T (p.Asp849Tyr)
c.2665G>T (p.Asp889Tyr)
c.2662G>T (p.Asp888Tyr)
c.2560G>T (p.Asp854Tyr)
c.2533G>T (p.Asp845Tyr)
c.2410G>T (p.Asp804Tyr)
c.*15G>T (n.*15G>T)
c.2428G>T (p.Asp810Tyr)
c.2305G>T (p.Asp769Tyr)
 gnomAD v4
21g.46549806A>CCA410583879DIP2Ac.2558A>C (p.Asp853Ala)
c.2546A>C (p.Asp849Ala)
c.2666A>C (p.Asp889Ala)
c.2663A>C (p.Asp888Ala)
c.2561A>C (p.Asp854Ala)
c.2534A>C (p.Asp845Ala)
c.2411A>C (p.Asp804Ala)
c.*16A>C (n.*16A>C)
c.2429A>C (p.Asp810Ala)
c.2306A>C (p.Asp769Ala)
21g.46549806A>GCA410583880DIP2Ac.2558A>G (p.Asp853Gly)
c.2546A>G (p.Asp849Gly)
c.2666A>G (p.Asp889Gly)
c.2663A>G (p.Asp888Gly)
c.2561A>G (p.Asp854Gly)
c.2534A>G (p.Asp845Gly)
c.2411A>G (p.Asp804Gly)
c.*16A>G (n.*16A>G)
c.2429A>G (p.Asp810Gly)
c.2306A>G (p.Asp769Gly)
21g.46549806A>TCA410583881DIP2Ac.2558A>T (p.Asp853Val)
c.2546A>T (p.Asp849Val)
c.2666A>T (p.Asp889Val)
c.2663A>T (p.Asp888Val)
c.2561A>T (p.Asp854Val)
c.2534A>T (p.Asp845Val)
c.2411A>T (p.Asp804Val)
c.*16A>T (n.*16A>T)
c.2429A>T (p.Asp810Val)
c.2306A>T (p.Asp769Val)
21g.46549807C>ACA410583882DIP2Ac.2559C>A (p.Asp853Glu)
c.2547C>A (p.Asp849Glu)
c.2667C>A (p.Asp889Glu)
c.2664C>A (p.Asp888Glu)
c.2562C>A (p.Asp854Glu)
c.2535C>A (p.Asp845Glu)
c.2412C>A (p.Asp804Glu)
c.*17C>A (n.*17C>A)
c.2430C>A (p.Asp810Glu)
c.2307C>A (p.Asp769Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46549807C=CA2392733469DIP2Ac.2559C= (p.Asp853=)
c.2547C= (p.Asp849=)
c.2667C= (p.Asp889=)
c.2664C= (p.Asp888=)
c.2562C= (p.Asp854=)
c.2535C= (p.Asp845=)
c.2412C= (p.Asp804=)
c.*17C= (n.*17C=)
c.2430C= (p.Asp810=)
c.2307C= (p.Asp769=)
21g.46549807C>GCA410583883DIP2Ac.2559C>G (p.Asp853Glu)
c.2547C>G (p.Asp849Glu)
c.2667C>G (p.Asp889Glu)
c.2664C>G (p.Asp888Glu)
c.2562C>G (p.Asp854Glu)
c.2535C>G (p.Asp845Glu)
c.2412C>G (p.Asp804Glu)
c.*17C>G (n.*17C>G)
c.2430C>G (p.Asp810Glu)
c.2307C>G (p.Asp769Glu)
21g.46549807C>TCA512743895DIP2Ac.2559C>T (p.Asp853=)
c.2547C>T (p.Asp849=)
c.2667C>T (p.Asp889=)
c.2664C>T (p.Asp888=)
c.2562C>T (p.Asp854=)
c.2535C>T (p.Asp845=)
c.2412C>T (p.Asp804=)
c.*17C>T (n.*17C>T)
c.2430C>T (p.Asp810=)
c.2307C>T (p.Asp769=)
 dbSNP gnomAD v4
21g.46549808C>ACA512743908DIP2Ac.2560C>A (p.Arg854=)
c.2548C>A (p.Arg850=)
c.2668C>A (p.Arg890=)
c.2665C>A (p.Arg889=)
c.2563C>A (p.Arg855=)
c.2536C>A (p.Arg846=)
c.2413C>A (p.Arg805=)
c.*18C>A (n.*18C>A)
c.2431C>A (p.Arg811=)
c.2308C>A (p.Arg770=)
21g.46549808C=CA2392733470DIP2Ac.2560C= (p.Arg854=)
c.2548C= (p.Arg850=)
c.2668C= (p.Arg890=)
c.2665C= (p.Arg889=)
c.2563C= (p.Arg855=)
c.2536C= (p.Arg846=)
c.2413C= (p.Arg805=)
c.*18C= (n.*18C=)
c.2431C= (p.Arg811=)
c.2308C= (p.Arg770=)
21g.46549808C>GCA410583884DIP2Ac.2560C>G (p.Arg854Gly)
c.2548C>G (p.Arg850Gly)
c.2668C>G (p.Arg890Gly)
c.2665C>G (p.Arg889Gly)
c.2563C>G (p.Arg855Gly)
c.2536C>G (p.Arg846Gly)
c.2413C>G (p.Arg805Gly)
c.*18C>G (n.*18C>G)
c.2431C>G (p.Arg811Gly)
c.2308C>G (p.Arg770Gly)
21g.46549808C>TCA10082467DIP2Ac.2560C>T (p.Arg854Trp)
c.2548C>T (p.Arg850Trp)
c.2668C>T (p.Arg890Trp)
c.2665C>T (p.Arg889Trp)
c.2563C>T (p.Arg855Trp)
c.2536C>T (p.Arg846Trp)
c.2413C>T (p.Arg805Trp)
c.*18C>T (n.*18C>T)
c.2431C>T (p.Arg811Trp)
c.2308C>T (p.Arg770Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549809G>ACA10082468DIP2Ac.2561G>A (p.Arg854Gln)
c.2549G>A (p.Arg850Gln)
c.2669G>A (p.Arg890Gln)
c.2666G>A (p.Arg889Gln)
c.2564G>A (p.Arg855Gln)
c.2537G>A (p.Arg846Gln)
c.2414G>A (p.Arg805Gln)
c.*19G>A (n.*19G>A)
c.2432G>A (p.Arg811Gln)
c.2309G>A (p.Arg770Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549809G>CCA410583885DIP2Ac.2561G>C (p.Arg854Pro)
c.2549G>C (p.Arg850Pro)
c.2669G>C (p.Arg890Pro)
c.2666G>C (p.Arg889Pro)
c.2564G>C (p.Arg855Pro)
c.2537G>C (p.Arg846Pro)
c.2414G>C (p.Arg805Pro)
c.*19G>C (n.*19G>C)
c.2432G>C (p.Arg811Pro)
c.2309G>C (p.Arg770Pro)
21g.46549809G=CA2392733471DIP2Ac.2561G= (p.Arg854=)
c.2549G= (p.Arg850=)
c.2669G= (p.Arg890=)
c.2666G= (p.Arg889=)
c.2564G= (p.Arg855=)
c.2537G= (p.Arg846=)
c.2414G= (p.Arg805=)
c.*19G= (n.*19G=)
c.2432G= (p.Arg811=)
c.2309G= (p.Arg770=)
21g.46549809G>TCA410583886DIP2Ac.2561G>T (p.Arg854Leu)
c.2549G>T (p.Arg850Leu)
c.2669G>T (p.Arg890Leu)
c.2666G>T (p.Arg889Leu)
c.2564G>T (p.Arg855Leu)
c.2537G>T (p.Arg846Leu)
c.2414G>T (p.Arg805Leu)
c.*19G>T (n.*19G>T)
c.2432G>T (p.Arg811Leu)
c.2309G>T (p.Arg770Leu)
 gnomAD v4
21g.46549810G>ACA512743922DIP2Ac.2562G>A (p.Arg854=)
c.2550G>A (p.Arg850=)
c.2670G>A (p.Arg890=)
c.2667G>A (p.Arg889=)
c.2565G>A (p.Arg855=)
c.2538G>A (p.Arg846=)
c.2415G>A (p.Arg805=)
c.*20G>A (n.*20G>A)
c.2433G>A (p.Arg811=)
c.2310G>A (p.Arg770=)
21g.46549810G>CCA512743919DIP2Ac.2562G>C (p.Arg854=)
c.2550G>C (p.Arg850=)
c.2670G>C (p.Arg890=)
c.2667G>C (p.Arg889=)
c.2565G>C (p.Arg855=)
c.2538G>C (p.Arg846=)
c.2415G>C (p.Arg805=)
c.*20G>C (n.*20G>C)
c.2433G>C (p.Arg811=)
c.2310G>C (p.Arg770=)
21g.46549810G>TCA512743917DIP2Ac.2562G>T (p.Arg854=)
c.2550G>T (p.Arg850=)
c.2670G>T (p.Arg890=)
c.2667G>T (p.Arg889=)
c.2565G>T (p.Arg855=)
c.2538G>T (p.Arg846=)
c.2415G>T (p.Arg805=)
c.*20G>T (n.*20G>T)
c.2433G>T (p.Arg811=)
c.2310G>T (p.Arg770=)
21g.46549811A>CCA410583887DIP2Ac.2563A>C (p.Ile855Leu)
c.2551A>C (p.Ile851Leu)
c.2671A>C (p.Ile891Leu)
c.2668A>C (p.Ile890Leu)
c.2566A>C (p.Ile856Leu)
c.2539A>C (p.Ile847Leu)
c.2416A>C (p.Ile806Leu)
c.*21A>C (n.*21A>C)
c.2434A>C (p.Ile812Leu)
c.2311A>C (p.Ile771Leu)
 gnomAD v4
21g.46549811A>GCA410583888DIP2Ac.2563A>G (p.Ile855Val)
c.2551A>G (p.Ile851Val)
c.2671A>G (p.Ile891Val)
c.2668A>G (p.Ile890Val)
c.2566A>G (p.Ile856Val)
c.2539A>G (p.Ile847Val)
c.2416A>G (p.Ile806Val)
c.*21A>G (n.*21A>G)
c.2434A>G (p.Ile812Val)
c.2311A>G (p.Ile771Val)
21g.46549811A>TCA410583889DIP2Ac.2563A>T (p.Ile855Phe)
c.2551A>T (p.Ile851Phe)
c.2671A>T (p.Ile891Phe)
c.2668A>T (p.Ile890Phe)
c.2566A>T (p.Ile856Phe)
c.2539A>T (p.Ile847Phe)
c.2416A>T (p.Ile806Phe)
c.*21A>T (n.*21A>T)
c.2434A>T (p.Ile812Phe)
c.2311A>T (p.Ile771Phe)
21g.46549812T>ACA410583890DIP2Ac.2564T>A (p.Ile855Asn)
c.2552T>A (p.Ile851Asn)
c.2672T>A (p.Ile891Asn)
c.2669T>A (p.Ile890Asn)
c.2567T>A (p.Ile856Asn)
c.2540T>A (p.Ile847Asn)
c.2417T>A (p.Ile806Asn)
c.*22T>A (n.*22T>A)
c.2435T>A (p.Ile812Asn)
c.2312T>A (p.Ile771Asn)
21g.46549812T>CCA410583891DIP2Ac.2564T>C (p.Ile855Thr)
c.2552T>C (p.Ile851Thr)
c.2672T>C (p.Ile891Thr)
c.2669T>C (p.Ile890Thr)
c.2567T>C (p.Ile856Thr)
c.2540T>C (p.Ile847Thr)
c.2417T>C (p.Ile806Thr)
c.*22T>C (n.*22T>C)
c.2435T>C (p.Ile812Thr)
c.2312T>C (p.Ile771Thr)
21g.46549812T>GCA410583892DIP2Ac.2564T>G (p.Ile855Ser)
c.2552T>G (p.Ile851Ser)
c.2672T>G (p.Ile891Ser)
c.2669T>G (p.Ile890Ser)
c.2567T>G (p.Ile856Ser)
c.2540T>G (p.Ile847Ser)
c.2417T>G (p.Ile806Ser)
c.*22T>G (n.*22T>G)
c.2435T>G (p.Ile812Ser)
c.2312T>G (p.Ile771Ser)
21g.46549813T>ACA512743947DIP2Ac.2565T>A (p.Ile855=)
c.2553T>A (p.Ile851=)
c.2673T>A (p.Ile891=)
c.2670T>A (p.Ile890=)
c.2568T>A (p.Ile856=)
c.2541T>A (p.Ile847=)
c.2418T>A (p.Ile806=)
c.*23T>A (n.*23T>A)
c.2436T>A (p.Ile812=)
c.2313T>A (p.Ile771=)
21g.46549813T>CCA512743945DIP2Ac.2565T>C (p.Ile855=)
c.2553T>C (p.Ile851=)
c.2673T>C (p.Ile891=)
c.2670T>C (p.Ile890=)
c.2568T>C (p.Ile856=)
c.2541T>C (p.Ile847=)
c.2418T>C (p.Ile806=)
c.*23T>C (n.*23T>C)
c.2436T>C (p.Ile812=)
c.2313T>C (p.Ile771=)
21g.46549813T>GCA410583893DIP2Ac.2565T>G (p.Ile855Met)
c.2553T>G (p.Ile851Met)
c.2673T>G (p.Ile891Met)
c.2670T>G (p.Ile890Met)
c.2568T>G (p.Ile856Met)
c.2541T>G (p.Ile847Met)
c.2418T>G (p.Ile806Met)
c.*23T>G (n.*23T>G)
c.2436T>G (p.Ile812Met)
c.2313T>G (p.Ile771Met)
21g.46549814G>ACA410583894DIP2Ac.2566G>A (p.Val856Ile)
c.2554G>A (p.Val852Ile)
c.2674G>A (p.Val892Ile)
c.2671G>A (p.Val891Ile)
c.2569G>A (p.Val857Ile)
c.2542G>A (p.Val848Ile)
c.2419G>A (p.Val807Ile)
c.*24G>A (n.*24G>A)
c.2437G>A (p.Val813Ile)
c.2314G>A (p.Val772Ile)
 gnomAD v4
21g.46549814G>CCA410583895DIP2Ac.2566G>C (p.Val856Leu)
c.2554G>C (p.Val852Leu)
c.2674G>C (p.Val892Leu)
c.2671G>C (p.Val891Leu)
c.2569G>C (p.Val857Leu)
c.2542G>C (p.Val848Leu)
c.2419G>C (p.Val807Leu)
c.*24G>C (n.*24G>C)
c.2437G>C (p.Val813Leu)
c.2314G>C (p.Val772Leu)
21g.46549814G>TCA410583896DIP2Ac.2566G>T (p.Val856Phe)
c.2554G>T (p.Val852Phe)
c.2674G>T (p.Val892Phe)
c.2671G>T (p.Val891Phe)
c.2569G>T (p.Val857Phe)
c.2542G>T (p.Val848Phe)
c.2419G>T (p.Val807Phe)
c.*24G>T (n.*24G>T)
c.2437G>T (p.Val813Phe)
c.2314G>T (p.Val772Phe)
21g.46549815T>ACA410583899DIP2Ac.2567T>A (p.Val856Asp)
c.2555T>A (p.Val852Asp)
c.2675T>A (p.Val892Asp)
c.2672T>A (p.Val891Asp)
c.2570T>A (p.Val857Asp)
c.2543T>A (p.Val848Asp)
c.2420T>A (p.Val807Asp)
c.*25T>A (n.*25T>A)
c.2438T>A (p.Val813Asp)
c.2315T>A (p.Val772Asp)
21g.46549815T>CCA410583897DIP2Ac.2567T>C (p.Val856Ala)
c.2555T>C (p.Val852Ala)
c.2675T>C (p.Val892Ala)
c.2672T>C (p.Val891Ala)
c.2570T>C (p.Val857Ala)
c.2543T>C (p.Val848Ala)
c.2420T>C (p.Val807Ala)
c.*25T>C (n.*25T>C)
c.2438T>C (p.Val813Ala)
c.2315T>C (p.Val772Ala)
21g.46549815T>GCA410583898DIP2Ac.2567T>G (p.Val856Gly)
c.2555T>G (p.Val852Gly)
c.2675T>G (p.Val892Gly)
c.2672T>G (p.Val891Gly)
c.2570T>G (p.Val857Gly)
c.2543T>G (p.Val848Gly)
c.2420T>G (p.Val807Gly)
c.*25T>G (n.*25T>G)
c.2438T>G (p.Val813Gly)
c.2315T>G (p.Val772Gly)
21g.46549816C>ACA512743968DIP2Ac.2568C>A (p.Val856=)
c.2556C>A (p.Val852=)
c.2676C>A (p.Val892=)
c.2673C>A (p.Val891=)
c.2571C>A (p.Val857=)
c.2544C>A (p.Val848=)
c.2421C>A (p.Val807=)
c.*26C>A (n.*26C>A)
c.2439C>A (p.Val813=)
c.2316C>A (p.Val772=)
21g.46549816C>GCA512743966DIP2Ac.2568C>G (p.Val856=)
c.2556C>G (p.Val852=)
c.2676C>G (p.Val892=)
c.2673C>G (p.Val891=)
c.2571C>G (p.Val857=)
c.2544C>G (p.Val848=)
c.2421C>G (p.Val807=)
c.*26C>G (n.*26C>G)
c.2439C>G (p.Val813=)
c.2316C>G (p.Val772=)
21g.46549816C>TCA512743963DIP2Ac.2568C>T (p.Val856=)
c.2556C>T (p.Val852=)
c.2676C>T (p.Val892=)
c.2673C>T (p.Val891=)
c.2571C>T (p.Val857=)
c.2544C>T (p.Val848=)
c.2421C>T (p.Val807=)
c.*26C>T (n.*26C>T)
c.2439C>T (p.Val813=)
c.2316C>T (p.Val772=)
21g.46549817C>ACA410583900DIP2Ac.2569C>A (p.Leu857Met)
c.2557C>A (p.Leu853Met)
c.2677C>A (p.Leu893Met)
c.2674C>A (p.Leu892Met)
c.2572C>A (p.Leu858Met)
c.2545C>A (p.Leu849Met)
c.2422C>A (p.Leu808Met)
c.*27C>A (n.*27C>A)
c.2440C>A (p.Leu814Met)
c.2317C>A (p.Leu773Met)
21g.46549817C>GCA410583901DIP2Ac.2569C>G (p.Leu857Val)
c.2557C>G (p.Leu853Val)
c.2677C>G (p.Leu893Val)
c.2674C>G (p.Leu892Val)
c.2572C>G (p.Leu858Val)
c.2545C>G (p.Leu849Val)
c.2422C>G (p.Leu808Val)
c.*27C>G (n.*27C>G)
c.2440C>G (p.Leu814Val)
c.2317C>G (p.Leu773Val)
21g.46549817C>TCA512743973DIP2Ac.2569C>T (p.Leu857=)
c.2557C>T (p.Leu853=)
c.2677C>T (p.Leu893=)
c.2674C>T (p.Leu892=)
c.2572C>T (p.Leu858=)
c.2545C>T (p.Leu849=)
c.2422C>T (p.Leu808=)
c.*27C>T (n.*27C>T)
c.2440C>T (p.Leu814=)
c.2317C>T (p.Leu773=)
21g.46549818T>ACA410583902DIP2Ac.2570T>A (p.Leu857Gln)
c.2558T>A (p.Leu853Gln)
c.2678T>A (p.Leu893Gln)
c.2675T>A (p.Leu892Gln)
c.2573T>A (p.Leu858Gln)
c.2546T>A (p.Leu849Gln)
c.2423T>A (p.Leu808Gln)
c.*28T>A (n.*28T>A)
c.2441T>A (p.Leu814Gln)
c.2318T>A (p.Leu773Gln)
21g.46549818T>CCA410583903DIP2Ac.2570T>C (p.Leu857Pro)
c.2558T>C (p.Leu853Pro)
c.2678T>C (p.Leu893Pro)
c.2675T>C (p.Leu892Pro)
c.2573T>C (p.Leu858Pro)
c.2546T>C (p.Leu849Pro)
c.2423T>C (p.Leu808Pro)
c.*28T>C (n.*28T>C)
c.2441T>C (p.Leu814Pro)
c.2318T>C (p.Leu773Pro)
21g.46549818T>GCA410583904DIP2Ac.2570T>G (p.Leu857Arg)
c.2558T>G (p.Leu853Arg)
c.2678T>G (p.Leu893Arg)
c.2675T>G (p.Leu892Arg)
c.2573T>G (p.Leu858Arg)
c.2546T>G (p.Leu849Arg)
c.2423T>G (p.Leu808Arg)
c.*28T>G (n.*28T>G)
c.2441T>G (p.Leu814Arg)
c.2318T>G (p.Leu773Arg)
21g.46549819G>ACA512743988DIP2Ac.2571G>A (p.Leu857=)
c.2559G>A (p.Leu853=)
c.2679G>A (p.Leu893=)
c.2676G>A (p.Leu892=)
c.2574G>A (p.Leu858=)
c.2547G>A (p.Leu849=)
c.2424G>A (p.Leu808=)
c.*29G>A (n.*29G>A)
c.2442G>A (p.Leu814=)
c.2319G>A (p.Leu773=)
 dbSNP gnomAD v2 gnomAD v4
21g.46549819G>CCA10082469DIP2Ac.2571G>C (p.Leu857=)
c.2559G>C (p.Leu853=)
c.2679G>C (p.Leu893=)
c.2676G>C (p.Leu892=)
c.2574G>C (p.Leu858=)
c.2547G>C (p.Leu849=)
c.2424G>C (p.Leu808=)
c.*29G>C (n.*29G>C)
c.2442G>C (p.Leu814=)
c.2319G>C (p.Leu773=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46549819G=CA2392733472DIP2Ac.2571G= (p.Leu857=)
c.2559G= (p.Leu853=)
c.2679G= (p.Leu893=)
c.2676G= (p.Leu892=)
c.2574G= (p.Leu858=)
c.2547G= (p.Leu849=)
c.2424G= (p.Leu808=)
c.*29G= (n.*29G=)
c.2442G= (p.Leu814=)
c.2319G= (p.Leu773=)
21g.46549819G>TCA512743985DIP2Ac.2571G>T (p.Leu857=)
c.2559G>T (p.Leu853=)
c.2679G>T (p.Leu893=)
c.2676G>T (p.Leu892=)
c.2574G>T (p.Leu858=)
c.2547G>T (p.Leu849=)
c.2424G>T (p.Leu808=)
c.*29G>T (n.*29G>T)
c.2442G>T (p.Leu814=)
c.2319G>T (p.Leu773=)
21g.46549820G>ACA410583905DIP2Ac.2572G>A (p.Val858Met)
c.2560G>A (p.Val854Met)
c.2680G>A (p.Val894Met)
c.2677G>A (p.Val893Met)
c.2575G>A (p.Val859Met)
c.2548G>A (p.Val850Met)
c.2425G>A (p.Val809Met)
c.*30G>A (n.*30G>A)
c.2443G>A (p.Val815Met)
c.2320G>A (p.Val774Met)
21g.46549820G>CCA410583906DIP2Ac.2572G>C (p.Val858Leu)
c.2560G>C (p.Val854Leu)
c.2680G>C (p.Val894Leu)
c.2677G>C (p.Val893Leu)
c.2575G>C (p.Val859Leu)
c.2548G>C (p.Val850Leu)
c.2425G>C (p.Val809Leu)
c.*30G>C (n.*30G>C)
c.2443G>C (p.Val815Leu)
c.2320G>C (p.Val774Leu)
21g.46549820G>TCA410583907DIP2Ac.2572G>T (p.Val858Leu)
c.2560G>T (p.Val854Leu)
c.2680G>T (p.Val894Leu)
c.2677G>T (p.Val893Leu)
c.2575G>T (p.Val859Leu)
c.2548G>T (p.Val850Leu)
c.2425G>T (p.Val809Leu)
c.*30G>T (n.*30G>T)
c.2443G>T (p.Val815Leu)
c.2320G>T (p.Val774Leu)
21g.46549821T>ACA410583908DIP2Ac.2573T>A (p.Val858Glu)
c.2561T>A (p.Val854Glu)
c.2681T>A (p.Val894Glu)
c.2678T>A (p.Val893Glu)
c.2576T>A (p.Val859Glu)
c.2549T>A (p.Val850Glu)
c.2426T>A (p.Val809Glu)
c.*31T>A (n.*31T>A)
c.2444T>A (p.Val815Glu)
c.2321T>A (p.Val774Glu)
21g.46549821T>CCA410583909DIP2Ac.2573T>C (p.Val858Ala)
c.2561T>C (p.Val854Ala)
c.2681T>C (p.Val894Ala)
c.2678T>C (p.Val893Ala)
c.2576T>C (p.Val859Ala)
c.2549T>C (p.Val850Ala)
c.2426T>C (p.Val809Ala)
c.*31T>C (n.*31T>C)
c.2444T>C (p.Val815Ala)
c.2321T>C (p.Val774Ala)
21g.46549821T>GCA410583910DIP2Ac.2573T>G (p.Val858Gly)
c.2561T>G (p.Val854Gly)
c.2681T>G (p.Val894Gly)
c.2678T>G (p.Val893Gly)
c.2576T>G (p.Val859Gly)
c.2549T>G (p.Val850Gly)
c.2426T>G (p.Val809Gly)
c.*31T>G (n.*31T>G)
c.2444T>G (p.Val815Gly)
c.2321T>G (p.Val774Gly)
21g.46549822G>ACA512744010DIP2Ac.2574G>A (p.Val858=)
c.2562G>A (p.Val854=)
c.2682G>A (p.Val894=)
c.2679G>A (p.Val893=)
c.2577G>A (p.Val859=)
c.2550G>A (p.Val850=)
c.2427G>A (p.Val809=)
c.*32G>A (n.*32G>A)
c.2445G>A (p.Val815=)
c.2322G>A (p.Val774=)
21g.46549822G>CCA512744005DIP2Ac.2574G>C (p.Val858=)
c.2562G>C (p.Val854=)
c.2682G>C (p.Val894=)
c.2679G>C (p.Val893=)
c.2577G>C (p.Val859=)
c.2550G>C (p.Val850=)
c.2427G>C (p.Val809=)
c.*32G>C (n.*32G>C)
c.2445G>C (p.Val815=)
c.2322G>C (p.Val774=)
21g.46549822G=CA2392733473DIP2Ac.2574G= (p.Val858=)
c.2562G= (p.Val854=)
c.2682G= (p.Val894=)
c.2679G= (p.Val893=)
c.2577G= (p.Val859=)
c.2550G= (p.Val850=)
c.2427G= (p.Val809=)
c.*32G= (n.*32G=)
c.2445G= (p.Val815=)
c.2322G= (p.Val774=)
21g.46549822G>TCA512744004DIP2Ac.2574G>T (p.Val858=)
c.2562G>T (p.Val854=)
c.2682G>T (p.Val894=)
c.2679G>T (p.Val893=)
c.2577G>T (p.Val859=)
c.2550G>T (p.Val850=)
c.2427G>T (p.Val809=)
c.*32G>T (n.*32G>T)
c.2445G>T (p.Val815=)
c.2322G>T (p.Val774=)
 dbSNP gnomAD v2 gnomAD v4
21g.46549823G>ACA410583913DIP2Ac.2575G>A (p.Ala859Thr)
c.2563G>A (p.Ala855Thr)
c.2683G>A (p.Ala895Thr)
c.2680G>A (p.Ala894Thr)
c.2578G>A (p.Ala860Thr)
c.2551G>A (p.Ala851Thr)
c.2428G>A (p.Ala810Thr)
c.*33G>A (n.*33G>A)
c.2446G>A (p.Ala816Thr)
c.2323G>A (p.Ala775Thr)
21g.46549823G>CCA410583912DIP2Ac.2575G>C (p.Ala859Pro)
c.2563G>C (p.Ala855Pro)
c.2683G>C (p.Ala895Pro)
c.2680G>C (p.Ala894Pro)
c.2578G>C (p.Ala860Pro)
c.2551G>C (p.Ala851Pro)
c.2428G>C (p.Ala810Pro)
c.*33G>C (n.*33G>C)
c.2446G>C (p.Ala816Pro)
c.2323G>C (p.Ala775Pro)
21g.46549823G>TCA410583911DIP2Ac.2575G>T (p.Ala859Ser)
c.2563G>T (p.Ala855Ser)
c.2683G>T (p.Ala895Ser)
c.2680G>T (p.Ala894Ser)
c.2578G>T (p.Ala860Ser)
c.2551G>T (p.Ala851Ser)
c.2428G>T (p.Ala810Ser)
c.*33G>T (n.*33G>T)
c.2446G>T (p.Ala816Ser)
c.2323G>T (p.Ala775Ser)
21g.46549824C>ACA410583914DIP2Ac.2576C>A (p.Ala859Asp)
c.2564C>A (p.Ala855Asp)
c.2684C>A (p.Ala895Asp)
c.2681C>A (p.Ala894Asp)
c.2579C>A (p.Ala860Asp)
c.2552C>A (p.Ala851Asp)
c.2429C>A (p.Ala810Asp)
c.*34C>A (n.*34C>A)
c.2447C>A (p.Ala816Asp)
c.2324C>A (p.Ala775Asp)
21g.46549824C>GCA410583916DIP2Ac.2576C>G (p.Ala859Gly)
c.2564C>G (p.Ala855Gly)
c.2684C>G (p.Ala895Gly)
c.2681C>G (p.Ala894Gly)
c.2579C>G (p.Ala860Gly)
c.2552C>G (p.Ala851Gly)
c.2429C>G (p.Ala810Gly)
c.*34C>G (n.*34C>G)
c.2447C>G (p.Ala816Gly)
c.2324C>G (p.Ala775Gly)
21g.46549824C>TCA410583915DIP2Ac.2576C>T (p.Ala859Val)
c.2564C>T (p.Ala855Val)
c.2684C>T (p.Ala895Val)
c.2681C>T (p.Ala894Val)
c.2579C>T (p.Ala860Val)
c.2552C>T (p.Ala851Val)
c.2429C>T (p.Ala810Val)
c.*34C>T (n.*34C>T)
c.2447C>T (p.Ala816Val)
c.2324C>T (p.Ala775Val)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
21g.46549825T>ACA512744028DIP2Ac.2577T>A (p.Ala859=)
c.2565T>A (p.Ala855=)
c.2685T>A (p.Ala895=)
c.2682T>A (p.Ala894=)
c.2580T>A (p.Ala860=)
c.2553T>A (p.Ala851=)
c.2430T>A (p.Ala810=)
c.*35T>A (n.*35T>A)
c.2448T>A (p.Ala816=)
c.2325T>A (p.Ala775=)
21g.46549825T>CCA512744027DIP2Ac.2577T>C (p.Ala859=)
c.2565T>C (p.Ala855=)
c.2685T>C (p.Ala895=)
c.2682T>C (p.Ala894=)
c.2580T>C (p.Ala860=)
c.2553T>C (p.Ala851=)
c.2430T>C (p.Ala810=)
c.*35T>C (n.*35T>C)
c.2448T>C (p.Ala816=)
c.2325T>C (p.Ala775=)
21g.46549825T>GCA512744025DIP2Ac.2577T>G (p.Ala859=)
c.2565T>G (p.Ala855=)
c.2685T>G (p.Ala895=)
c.2682T>G (p.Ala894=)
c.2580T>G (p.Ala860=)
c.2553T>G (p.Ala851=)
c.2430T>G (p.Ala810=)
c.*35T>G (n.*35T>G)
c.2448T>G (p.Ala816=)
c.2325T>G (p.Ala775=)
21g.46549826G>ACA410583917DIP2Ac.2578G>A (p.Glu860Lys)
c.2566G>A (p.Glu856Lys)
c.2686G>A (p.Glu896Lys)
c.2683G>A (p.Glu895Lys)
c.2581G>A (p.Glu861Lys)
c.2554G>A (p.Glu852Lys)
c.2431G>A (p.Glu811Lys)
c.*36G>A (n.*36G>A)
c.2449G>A (p.Glu817Lys)
c.2326G>A (p.Glu776Lys)
21g.46549826G>CCA410583919DIP2Ac.2578G>C (p.Glu860Gln)
c.2566G>C (p.Glu856Gln)
c.2686G>C (p.Glu896Gln)
c.2683G>C (p.Glu895Gln)
c.2581G>C (p.Glu861Gln)
c.2554G>C (p.Glu852Gln)
c.2431G>C (p.Glu811Gln)
c.*36G>C (n.*36G>C)
c.2449G>C (p.Glu817Gln)
c.2326G>C (p.Glu776Gln)
21g.46549826G>TCA410583918DIP2Ac.2578G>T (p.Glu860Ter)
c.2566G>T (p.Glu856Ter)
c.2686G>T (p.Glu896Ter)
c.2683G>T (p.Glu895Ter)
c.2581G>T (p.Glu861Ter)
c.2554G>T (p.Glu852Ter)
c.2431G>T (p.Glu811Ter)
c.*36G>T (n.*36G>T)
c.2449G>T (p.Glu817Ter)
c.2326G>T (p.Glu776Ter)
21g.46549827A>CCA410583920DIP2Ac.2579A>C (p.Glu860Ala)
c.2567A>C (p.Glu856Ala)
c.2687A>C (p.Glu896Ala)
c.2684A>C (p.Glu895Ala)
c.2582A>C (p.Glu861Ala)
c.2555A>C (p.Glu852Ala)
c.2432A>C (p.Glu811Ala)
c.*37A>C (n.*37A>C)
c.2450A>C (p.Glu817Ala)
c.2327A>C (p.Glu776Ala)
21g.46549827A>GCA410583922DIP2Ac.2579A>G (p.Glu860Gly)
c.2567A>G (p.Glu856Gly)
c.2687A>G (p.Glu896Gly)
c.2684A>G (p.Glu895Gly)
c.2582A>G (p.Glu861Gly)
c.2555A>G (p.Glu852Gly)
c.2432A>G (p.Glu811Gly)
c.*37A>G (n.*37A>G)
c.2450A>G (p.Glu817Gly)
c.2327A>G (p.Glu776Gly)
21g.46549827A>TCA410583921DIP2Ac.2579A>T (p.Glu860Val)
c.2567A>T (p.Glu856Val)
c.2687A>T (p.Glu896Val)
c.2684A>T (p.Glu895Val)
c.2582A>T (p.Glu861Val)
c.2555A>T (p.Glu852Val)
c.2432A>T (p.Glu811Val)
c.*37A>T (n.*37A>T)
c.2450A>T (p.Glu817Val)
c.2327A>T (p.Glu776Val)
21g.46549828G>ACA512744044DIP2Ac.2580G>A (p.Glu860=)
c.2568G>A (p.Glu856=)
c.2688G>A (p.Glu896=)
c.2685G>A (p.Glu895=)
c.2583G>A (p.Glu861=)
c.2556G>A (p.Glu852=)
c.2433G>A (p.Glu811=)
c.*38G>A (n.*38G>A)
c.2451G>A (p.Glu817=)
c.2328G>A (p.Glu776=)
21g.46549828G>CCA410583923DIP2Ac.2580G>C (p.Glu860Asp)
c.2568G>C (p.Glu856Asp)
c.2688G>C (p.Glu896Asp)
c.2685G>C (p.Glu895Asp)
c.2583G>C (p.Glu861Asp)
c.2556G>C (p.Glu852Asp)
c.2433G>C (p.Glu811Asp)
c.*38G>C (n.*38G>C)
c.2451G>C (p.Glu817Asp)
c.2328G>C (p.Glu776Asp)
21g.46549828G>TCA410583924DIP2Ac.2580G>T (p.Glu860Asp)
c.2568G>T (p.Glu856Asp)
c.2688G>T (p.Glu896Asp)
c.2685G>T (p.Glu895Asp)
c.2583G>T (p.Glu861Asp)
c.2556G>T (p.Glu852Asp)
c.2433G>T (p.Glu811Asp)
c.*38G>T (n.*38G>T)
c.2451G>T (p.Glu817Asp)
c.2328G>T (p.Glu776Asp)
21g.46549829C>ACA410583925DIP2Ac.2581C>A (p.Gln861Lys)
c.2569C>A (p.Gln857Lys)
c.2689C>A (p.Gln897Lys)
c.2686C>A (p.Gln896Lys)
c.2584C>A (p.Gln862Lys)
c.2557C>A (p.Gln853Lys)
c.2434C>A (p.Gln812Lys)
c.*39C>A (n.*39C>A)
c.2452C>A (p.Gln818Lys)
c.2329C>A (p.Gln777Lys)
21g.46549829C>GCA410583926DIP2Ac.2581C>G (p.Gln861Glu)
c.2569C>G (p.Gln857Glu)
c.2689C>G (p.Gln897Glu)
c.2686C>G (p.Gln896Glu)
c.2584C>G (p.Gln862Glu)
c.2557C>G (p.Gln853Glu)
c.2434C>G (p.Gln812Glu)
c.*39C>G (n.*39C>G)
c.2452C>G (p.Gln818Glu)
c.2329C>G (p.Gln777Glu)
21g.46549829C>TCA410583927DIP2Ac.2581C>T (p.Gln861Ter)
c.2569C>T (p.Gln857Ter)
c.2689C>T (p.Gln897Ter)
c.2686C>T (p.Gln896Ter)
c.2584C>T (p.Gln862Ter)
c.2557C>T (p.Gln853Ter)
c.2434C>T (p.Gln812Ter)
c.*39C>T (n.*39C>T)
c.2452C>T (p.Gln818Ter)
c.2329C>T (p.Gln777Ter)
21g.46549830A=CA2392733474DIP2Ac.2582A= (p.Gln861=)
c.2570A= (p.Gln857=)
c.2690A= (p.Gln897=)
c.2687A= (p.Gln896=)
c.2585A= (p.Gln862=)
c.2558A= (p.Gln853=)
c.2435A= (p.Gln812=)
c.*40A= (n.*40A=)
c.2453A= (p.Gln818=)
c.2330A= (p.Gln777=)
21g.46549830A>CCA410583928DIP2Ac.2582A>C (p.Gln861Pro)
c.2570A>C (p.Gln857Pro)
c.2690A>C (p.Gln897Pro)
c.2687A>C (p.Gln896Pro)
c.2585A>C (p.Gln862Pro)
c.2558A>C (p.Gln853Pro)
c.2435A>C (p.Gln812Pro)
c.*40A>C (n.*40A>C)
c.2453A>C (p.Gln818Pro)
c.2330A>C (p.Gln777Pro)
21g.46549830A>GCA410583929DIP2Ac.2582A>G (p.Gln861Arg)
c.2570A>G (p.Gln857Arg)
c.2690A>G (p.Gln897Arg)
c.2687A>G (p.Gln896Arg)
c.2585A>G (p.Gln862Arg)
c.2558A>G (p.Gln853Arg)
c.2435A>G (p.Gln812Arg)
c.*40A>G (n.*40A>G)
c.2453A>G (p.Gln818Arg)
c.2330A>G (p.Gln777Arg)
21g.46549830A>TCA410583930DIP2Ac.2582A>T (p.Gln861Leu)
c.2570A>T (p.Gln857Leu)
c.2690A>T (p.Gln897Leu)
c.2687A>T (p.Gln896Leu)
c.2585A>T (p.Gln862Leu)
c.2558A>T (p.Gln853Leu)
c.2435A>T (p.Gln812Leu)
c.*40A>T (n.*40A>T)
c.2453A>T (p.Gln818Leu)
c.2330A>T (p.Gln777Leu)
 dbSNP
21g.46549831G>ACA512744065DIP2Ac.2583G>A (p.Gln861=)
c.2571G>A (p.Gln857=)
c.2691G>A (p.Gln897=)
c.2688G>A (p.Gln896=)
c.2586G>A (p.Gln862=)
c.2559G>A (p.Gln853=)
c.2436G>A (p.Gln812=)
c.*41G>A (n.*41G>A)
c.2454G>A (p.Gln818=)
c.2331G>A (p.Gln777=)
 gnomAD v4
21g.46549831G>CCA410583931DIP2Ac.2583G>C (p.Gln861His)
c.2571G>C (p.Gln857His)
c.2691G>C (p.Gln897His)
c.2688G>C (p.Gln896His)
c.2586G>C (p.Gln862His)
c.2559G>C (p.Gln853His)
c.2436G>C (p.Gln812His)
c.*41G>C (n.*41G>C)
c.2454G>C (p.Gln818His)
c.2331G>C (p.Gln777His)
21g.46549831G>TCA410583932DIP2Ac.2583G>T (p.Gln861His)
c.2571G>T (p.Gln857His)
c.2691G>T (p.Gln897His)
c.2688G>T (p.Gln896His)
c.2586G>T (p.Gln862His)
c.2559G>T (p.Gln853His)
c.2436G>T (p.Gln812His)
c.*41G>T (n.*41G>T)
c.2454G>T (p.Gln818His)
c.2331G>T (p.Gln777His)
 gnomAD v4
21g.46549832C>ACA512744071DIP2Ac.2584C>A (p.Arg862=)
c.2572C>A (p.Arg858=)
c.2692C>A (p.Arg898=)
c.2689C>A (p.Arg897=)
c.2587C>A (p.Arg863=)
c.2560C>A (p.Arg854=)
c.2437C>A (p.Arg813=)
c.*42C>A (n.*42C>A)
c.2455C>A (p.Arg819=)
c.2332C>A (p.Arg778=)
21g.46549832C=CA2392733475DIP2Ac.2584C= (p.Arg862=)
c.2572C= (p.Arg858=)
c.2692C= (p.Arg898=)
c.2689C= (p.Arg897=)
c.2587C= (p.Arg863=)
c.2560C= (p.Arg854=)
c.2437C= (p.Arg813=)
c.*42C= (n.*42C=)
c.2455C= (p.Arg819=)
c.2332C= (p.Arg778=)
21g.46549832C>GCA410583933DIP2Ac.2584C>G (p.Arg862Gly)
c.2572C>G (p.Arg858Gly)
c.2692C>G (p.Arg898Gly)
c.2689C>G (p.Arg897Gly)
c.2587C>G (p.Arg863Gly)
c.2560C>G (p.Arg854Gly)
c.2437C>G (p.Arg813Gly)
c.*42C>G (n.*42C>G)
c.2455C>G (p.Arg819Gly)
c.2332C>G (p.Arg778Gly)
21g.46549832C>TCA10082470DIP2Ac.2584C>T (p.Arg862Trp)
c.2572C>T (p.Arg858Trp)
c.2692C>T (p.Arg898Trp)
c.2689C>T (p.Arg897Trp)
c.2587C>T (p.Arg863Trp)
c.2560C>T (p.Arg854Trp)
c.2437C>T (p.Arg813Trp)
c.*42C>T (n.*42C>T)
c.2455C>T (p.Arg819Trp)
c.2332C>T (p.Arg778Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
21g.46549833G>ACA10082471DIP2Ac.2585G>A (p.Arg862Gln)
c.2573G>A (p.Arg858Gln)
c.2693G>A (p.Arg898Gln)
c.2690G>A (p.Arg897Gln)
c.2588G>A (p.Arg863Gln)
c.2561G>A (p.Arg854Gln)
c.2438G>A (p.Arg813Gln)
c.*43G>A (n.*43G>A)
c.2456G>A (p.Arg819Gln)
c.2333G>A (p.Arg778Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549833G>CCA410583934DIP2Ac.2585G>C (p.Arg862Pro)
c.2573G>C (p.Arg858Pro)
c.2693G>C (p.Arg898Pro)
c.2690G>C (p.Arg897Pro)
c.2588G>C (p.Arg863Pro)
c.2561G>C (p.Arg854Pro)
c.2438G>C (p.Arg813Pro)
c.*43G>C (n.*43G>C)
c.2456G>C (p.Arg819Pro)
c.2333G>C (p.Arg778Pro)
21g.46549833G=CA2392733476DIP2Ac.2585G= (p.Arg862=)
c.2573G= (p.Arg858=)
c.2693G= (p.Arg898=)
c.2690G= (p.Arg897=)
c.2588G= (p.Arg863=)
c.2561G= (p.Arg854=)
c.2438G= (p.Arg813=)
c.*43G= (n.*43G=)
c.2456G= (p.Arg819=)
c.2333G= (p.Arg778=)
21g.46549833G>TCA410583935DIP2Ac.2585G>T (p.Arg862Leu)
c.2573G>T (p.Arg858Leu)
c.2693G>T (p.Arg898Leu)
c.2690G>T (p.Arg897Leu)
c.2588G>T (p.Arg863Leu)
c.2561G>T (p.Arg854Leu)
c.2438G>T (p.Arg813Leu)
c.*43G>T (n.*43G>T)
c.2456G>T (p.Arg819Leu)
c.2333G>T (p.Arg778Leu)
 dbSNP gnomAD v2 gnomAD v4
21g.46549834G>ACA512744082DIP2Ac.2586G>A (p.Arg862=)
c.2574G>A (p.Arg858=)
c.2694G>A (p.Arg898=)
c.2691G>A (p.Arg897=)
c.2589G>A (p.Arg863=)
c.2562G>A (p.Arg854=)
c.2439G>A (p.Arg813=)
c.*44G>A (n.*44G>A)
c.2457G>A (p.Arg819=)
c.2334G>A (p.Arg778=)
21g.46549834G>CCA512744080DIP2Ac.2586G>C (p.Arg862=)
c.2574G>C (p.Arg858=)
c.2694G>C (p.Arg898=)
c.2691G>C (p.Arg897=)
c.2589G>C (p.Arg863=)
c.2562G>C (p.Arg854=)
c.2439G>C (p.Arg813=)
c.*44G>C (n.*44G>C)
c.2457G>C (p.Arg819=)
c.2334G>C (p.Arg778=)
21g.46549834G>TCA512744078DIP2Ac.2586G>T (p.Arg862=)
c.2574G>T (p.Arg858=)
c.2694G>T (p.Arg898=)
c.2691G>T (p.Arg897=)
c.2589G>T (p.Arg863=)
c.2562G>T (p.Arg854=)
c.2439G>T (p.Arg813=)
c.*44G>T (n.*44G>T)
c.2457G>T (p.Arg819=)
c.2334G>T (p.Arg778=)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
21g.46549835C>ACA410583936DIP2Ac.2587C>A (p.Pro863Thr)
c.2575C>A (p.Pro859Thr)
c.2695C>A (p.Pro899Thr)
c.2692C>A (p.Pro898Thr)
c.2590C>A (p.Pro864Thr)
c.2563C>A (p.Pro855Thr)
c.2440C>A (p.Pro814Thr)
c.*45C>A (n.*45C>A)
c.2458C>A (p.Pro820Thr)
c.2335C>A (p.Pro779Thr)
21g.46549835C>GCA410583937DIP2Ac.2587C>G (p.Pro863Ala)
c.2575C>G (p.Pro859Ala)
c.2695C>G (p.Pro899Ala)
c.2692C>G (p.Pro898Ala)
c.2590C>G (p.Pro864Ala)
c.2563C>G (p.Pro855Ala)
c.2440C>G (p.Pro814Ala)
c.*45C>G (n.*45C>G)
c.2458C>G (p.Pro820Ala)
c.2335C>G (p.Pro779Ala)
21g.46549835C>TCA410583938DIP2Ac.2587C>T (p.Pro863Ser)
c.2575C>T (p.Pro859Ser)
c.2695C>T (p.Pro899Ser)
c.2692C>T (p.Pro898Ser)
c.2590C>T (p.Pro864Ser)
c.2563C>T (p.Pro855Ser)
c.2440C>T (p.Pro814Ser)
c.*45C>T (n.*45C>T)
c.2458C>T (p.Pro820Ser)
c.2335C>T (p.Pro779Ser)
 gnomAD v4
21g.46549836C>ACA410583939DIP2Ac.2588C>A (p.Pro863Gln)
c.2576C>A (p.Pro859Gln)
c.2696C>A (p.Pro899Gln)
c.2693C>A (p.Pro898Gln)
c.2591C>A (p.Pro864Gln)
c.2564C>A (p.Pro855Gln)
c.2441C>A (p.Pro814Gln)
c.*46C>A (n.*46C>A)
c.2459C>A (p.Pro820Gln)
c.2336C>A (p.Pro779Gln)
 gnomAD v4
21g.46549836C=CA2392733477DIP2Ac.2588C= (p.Pro863=)
c.2576C= (p.Pro859=)
c.2696C= (p.Pro899=)
c.2693C= (p.Pro898=)
c.2591C= (p.Pro864=)
c.2564C= (p.Pro855=)
c.2441C= (p.Pro814=)
c.*46C= (n.*46C=)
c.2459C= (p.Pro820=)
c.2336C= (p.Pro779=)
21g.46549836C>GCA410583940DIP2Ac.2588C>G (p.Pro863Arg)
c.2576C>G (p.Pro859Arg)
c.2696C>G (p.Pro899Arg)
c.2693C>G (p.Pro898Arg)
c.2591C>G (p.Pro864Arg)
c.2564C>G (p.Pro855Arg)
c.2441C>G (p.Pro814Arg)
c.*46C>G (n.*46C>G)
c.2459C>G (p.Pro820Arg)
c.2336C>G (p.Pro779Arg)
21g.46549836C>TCA10082472DIP2Ac.2588C>T (p.Pro863Leu)
c.2576C>T (p.Pro859Leu)
c.2696C>T (p.Pro899Leu)
c.2693C>T (p.Pro898Leu)
c.2591C>T (p.Pro864Leu)
c.2564C>T (p.Pro855Leu)
c.2441C>T (p.Pro814Leu)
c.*46C>T (n.*46C>T)
c.2459C>T (p.Pro820Leu)
c.2336C>T (p.Pro779Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549837G>ACA10082473DIP2Ac.2589G>A (p.Pro863=)
c.2577G>A (p.Pro859=)
c.2697G>A (p.Pro899=)
c.2694G>A (p.Pro898=)
c.2592G>A (p.Pro864=)
c.2565G>A (p.Pro855=)
c.2442G>A (p.Pro814=)
c.*47G>A (n.*47G>A)
c.2460G>A (p.Pro820=)
c.2337G>A (p.Pro779=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
21g.46549837G>CCA512744101DIP2Ac.2589G>C (p.Pro863=)
c.2577G>C (p.Pro859=)
c.2697G>C (p.Pro899=)
c.2694G>C (p.Pro898=)
c.2592G>C (p.Pro864=)
c.2565G>C (p.Pro855=)
c.2442G>C (p.Pro814=)
c.*47G>C (n.*47G>C)
c.2460G>C (p.Pro820=)
c.2337G>C (p.Pro779=)
21g.46549837G=CA2392733478DIP2Ac.2589G= (p.Pro863=)
c.2577G= (p.Pro859=)
c.2697G= (p.Pro899=)
c.2694G= (p.Pro898=)
c.2592G= (p.Pro864=)
c.2565G= (p.Pro855=)
c.2442G= (p.Pro814=)
c.*47G= (n.*47G=)
c.2460G= (p.Pro820=)
c.2337G= (p.Pro779=)
21g.46549837G>TCA512744099DIP2Ac.2589G>T (p.Pro863=)
c.2577G>T (p.Pro859=)
c.2697G>T (p.Pro899=)
c.2694G>T (p.Pro898=)
c.2592G>T (p.Pro864=)
c.2565G>T (p.Pro855=)
c.2442G>T (p.Pro814=)
c.*47G>T (n.*47G>T)
c.2460G>T (p.Pro820=)
c.2337G>T (p.Pro779=)
21g.46549838G>ACA410583941DIP2Ac.2590G>A (p.Asp864Asn)
c.2578G>A (p.Asp860Asn)
c.2698G>A (p.Asp900Asn)
c.2695G>A (p.Asp899Asn)
c.2593G>A (p.Asp865Asn)
c.2566G>A (p.Asp856Asn)
c.2443G>A (p.Asp815Asn)
c.*48G>A (n.*48G>A)
c.2461G>A (p.Asp821Asn)
c.2338G>A (p.Asp780Asn)
21g.46549838G>CCA410583942DIP2Ac.2590G>C (p.Asp864His)
c.2578G>C (p.Asp860His)
c.2698G>C (p.Asp900His)
c.2695G>C (p.Asp899His)
c.2593G>C (p.Asp865His)
c.2566G>C (p.Asp856His)
c.2443G>C (p.Asp815His)
c.*48G>C (n.*48G>C)
c.2461G>C (p.Asp821His)
c.2338G>C (p.Asp780His)
21g.46549838G>TCA410583943DIP2Ac.2590G>T (p.Asp864Tyr)
c.2578G>T (p.Asp860Tyr)
c.2698G>T (p.Asp900Tyr)
c.2695G>T (p.Asp899Tyr)
c.2593G>T (p.Asp865Tyr)
c.2566G>T (p.Asp856Tyr)
c.2443G>T (p.Asp815Tyr)
c.*48G>T (n.*48G>T)
c.2461G>T (p.Asp821Tyr)
c.2338G>T (p.Asp780Tyr)
 gnomAD v4
21g.46549839A>CCA410583946DIP2Ac.2591A>C (p.Asp864Ala)
c.2579A>C (p.Asp860Ala)
c.2699A>C (p.Asp900Ala)
c.2696A>C (p.Asp899Ala)
c.2594A>C (p.Asp865Ala)
c.2567A>C (p.Asp856Ala)
c.2444A>C (p.Asp815Ala)
c.*49A>C (n.*49A>C)
c.2462A>C (p.Asp821Ala)
c.2339A>C (p.Asp780Ala)
21g.46549839A>GCA410583945DIP2Ac.2591A>G (p.Asp864Gly)
c.2579A>G (p.Asp860Gly)
c.2699A>G (p.Asp900Gly)
c.2696A>G (p.Asp899Gly)
c.2594A>G (p.Asp865Gly)
c.2567A>G (p.Asp856Gly)
c.2444A>G (p.Asp815Gly)
c.*49A>G (n.*49A>G)
c.2462A>G (p.Asp821Gly)
c.2339A>G (p.Asp780Gly)
 gnomAD v4
21g.46549839A>TCA410583944DIP2Ac.2591A>T (p.Asp864Val)
c.2579A>T (p.Asp860Val)
c.2699A>T (p.Asp900Val)
c.2696A>T (p.Asp899Val)
c.2594A>T (p.Asp865Val)
c.2567A>T (p.Asp856Val)
c.2444A>T (p.Asp815Val)
c.*49A>T (n.*49A>T)
c.2462A>T (p.Asp821Val)
c.2339A>T (p.Asp780Val)
21g.46549840T>ACA410583947DIP2Ac.2592T>A (p.Asp864Glu)
c.2580T>A (p.Asp860Glu)
c.2700T>A (p.Asp900Glu)
c.2697T>A (p.Asp899Glu)
c.2595T>A (p.Asp865Glu)
c.2568T>A (p.Asp856Glu)
c.2445T>A (p.Asp815Glu)
c.*50T>A (n.*50T>A)
c.2463T>A (p.Asp821Glu)
c.2340T>A (p.Asp780Glu)
21g.46549840T>CCA512744118DIP2Ac.2592T>C (p.Asp864=)
c.2580T>C (p.Asp860=)
c.2700T>C (p.Asp900=)
c.2697T>C (p.Asp899=)
c.2595T>C (p.Asp865=)
c.2568T>C (p.Asp856=)
c.2445T>C (p.Asp815=)
c.*50T>C (n.*50T>C)
c.2463T>C (p.Asp821=)
c.2340T>C (p.Asp780=)
21g.46549840T>GCA410583948DIP2Ac.2592T>G (p.Asp864Glu)
c.2580T>G (p.Asp860Glu)
c.2700T>G (p.Asp900Glu)
c.2697T>G (p.Asp899Glu)
c.2595T>G (p.Asp865Glu)
c.2568T>G (p.Asp856Glu)
c.2445T>G (p.Asp815Glu)
c.*50T>G (n.*50T>G)
c.2463T>G (p.Asp821Glu)
c.2340T>G (p.Asp780Glu)
21g.46549841G>ACA410583949DIP2Ac.2593G>A (p.Ala865Thr)
c.2581G>A (p.Ala861Thr)
c.2701G>A (p.Ala901Thr)
c.2698G>A (p.Ala900Thr)
c.2596G>A (p.Ala866Thr)
c.2569G>A (p.Ala857Thr)
c.2446G>A (p.Ala816Thr)
c.*51G>A (n.*51G>A)
c.2464G>A (p.Ala822Thr)
c.2341G>A (p.Ala781Thr)
 gnomAD v4
21g.46549841G>CCA410583950DIP2Ac.2593G>C (p.Ala865Pro)
c.2581G>C (p.Ala861Pro)
c.2701G>C (p.Ala901Pro)
c.2698G>C (p.Ala900Pro)
c.2596G>C (p.Ala866Pro)
c.2569G>C (p.Ala857Pro)
c.2446G>C (p.Ala816Pro)
c.*51G>C (n.*51G>C)
c.2464G>C (p.Ala822Pro)
c.2341G>C (p.Ala781Pro)
21g.46549841G>TCA410583951DIP2Ac.2593G>T (p.Ala865Ser)
c.2581G>T (p.Ala861Ser)
c.2701G>T (p.Ala901Ser)
c.2698G>T (p.Ala900Ser)
c.2596G>T (p.Ala866Ser)
c.2569G>T (p.Ala857Ser)
c.2446G>T (p.Ala816Ser)
c.*51G>T (n.*51G>T)
c.2464G>T (p.Ala822Ser)
c.2341G>T (p.Ala781Ser)
21g.46549842C>ACA410583952DIP2Ac.2594C>A (p.Ala865Asp)
c.2582C>A (p.Ala861Asp)
c.2702C>A (p.Ala901Asp)
c.2699C>A (p.Ala900Asp)
c.2597C>A (p.Ala866Asp)
c.2570C>A (p.Ala857Asp)
c.2447C>A (p.Ala816Asp)
c.*52C>A (n.*52C>A)
c.2465C>A (p.Ala822Asp)
c.2342C>A (p.Ala781Asp)
21g.46549842C=CA2392733479DIP2Ac.2594C= (p.Ala865=)
c.2582C= (p.Ala861=)
c.2702C= (p.Ala901=)
c.2699C= (p.Ala900=)
c.2597C= (p.Ala866=)
c.2570C= (p.Ala857=)
c.2447C= (p.Ala816=)
c.*52C= (n.*52C=)
c.2465C= (p.Ala822=)
c.2342C= (p.Ala781=)
21g.46549842C>GCA410583953DIP2Ac.2594C>G (p.Ala865Gly)
c.2582C>G (p.Ala861Gly)
c.2702C>G (p.Ala901Gly)
c.2699C>G (p.Ala900Gly)
c.2597C>G (p.Ala866Gly)
c.2570C>G (p.Ala857Gly)
c.2447C>G (p.Ala816Gly)
c.*52C>G (n.*52C>G)
c.2465C>G (p.Ala822Gly)
c.2342C>G (p.Ala781Gly)
21g.46549842C>TCA10082474DIP2Ac.2594C>T (p.Ala865Val)
c.2582C>T (p.Ala861Val)
c.2702C>T (p.Ala901Val)
c.2699C>T (p.Ala900Val)
c.2597C>T (p.Ala866Val)
c.2570C>T (p.Ala857Val)
c.2447C>T (p.Ala816Val)
c.*52C>T (n.*52C>T)
c.2465C>T (p.Ala822Val)
c.2342C>T (p.Ala781Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549843C>ACA512744141DIP2Ac.2595C>A (p.Ala865=)
c.2583C>A (p.Ala861=)
c.2703C>A (p.Ala901=)
c.2700C>A (p.Ala900=)
c.2598C>A (p.Ala866=)
c.2571C>A (p.Ala857=)
c.2448C>A (p.Ala816=)
c.*53C>A (n.*53C>A)
c.2466C>A (p.Ala822=)
c.2343C>A (p.Ala781=)
21g.46549843C=CA2392733480DIP2Ac.2595C= (p.Ala865=)
c.2583C= (p.Ala861=)
c.2703C= (p.Ala901=)
c.2700C= (p.Ala900=)
c.2598C= (p.Ala866=)
c.2571C= (p.Ala857=)
c.2448C= (p.Ala816=)
c.*53C= (n.*53C=)
c.2466C= (p.Ala822=)
c.2343C= (p.Ala781=)
21g.46549843C>GCA512744139DIP2Ac.2595C>G (p.Ala865=)
c.2583C>G (p.Ala861=)
c.2703C>G (p.Ala901=)
c.2700C>G (p.Ala900=)
c.2598C>G (p.Ala866=)
c.2571C>G (p.Ala857=)
c.2448C>G (p.Ala816=)
c.*53C>G (n.*53C>G)
c.2466C>G (p.Ala822=)
c.2343C>G (p.Ala781=)
21g.46549843C>TCA10082475DIP2Ac.2595C>T (p.Ala865=)
c.2583C>T (p.Ala861=)
c.2703C>T (p.Ala901=)
c.2700C>T (p.Ala900=)
c.2598C>T (p.Ala866=)
c.2571C>T (p.Ala857=)
c.2448C>T (p.Ala816=)
c.*53C>T (n.*53C>T)
c.2466C>T (p.Ala822=)
c.2343C>T (p.Ala781=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46549844T>ACA410583954DIP2Ac.2596T>A (p.Ser866Thr)
c.2584T>A (p.Ser862Thr)
c.2704T>A (p.Ser902Thr)
c.2701T>A (p.Ser901Thr)
c.2599T>A (p.Ser867Thr)
c.2572T>A (p.Ser858Thr)
c.2449T>A (p.Ser817Thr)
c.*54T>A (n.*54T>A)
c.2467T>A (p.Ser823Thr)
c.2344T>A (p.Ser782Thr)
21g.46549844T>CCA410583955DIP2Ac.2596T>C (p.Ser866Pro)
c.2584T>C (p.Ser862Pro)
c.2704T>C (p.Ser902Pro)
c.2701T>C (p.Ser901Pro)
c.2599T>C (p.Ser867Pro)
c.2572T>C (p.Ser858Pro)
c.2449T>C (p.Ser817Pro)
c.*54T>C (n.*54T>C)
c.2467T>C (p.Ser823Pro)
c.2344T>C (p.Ser782Pro)
 dbSNP gnomAD v2 gnomAD v4
21g.46549844T>GCA410583956DIP2Ac.2596T>G (p.Ser866Ala)
c.2584T>G (p.Ser862Ala)
c.2704T>G (p.Ser902Ala)
c.2701T>G (p.Ser901Ala)
c.2599T>G (p.Ser867Ala)
c.2572T>G (p.Ser858Ala)
c.2449T>G (p.Ser817Ala)
c.*54T>G (n.*54T>G)
c.2467T>G (p.Ser823Ala)
c.2344T>G (p.Ser782Ala)
21g.46549844T=CA2392733481DIP2Ac.2596T= (p.Ser866=)
c.2584T= (p.Ser862=)
c.2704T= (p.Ser902=)
c.2701T= (p.Ser901=)
c.2599T= (p.Ser867=)
c.2572T= (p.Ser858=)
c.2449T= (p.Ser817=)
c.*54T= (n.*54T=)
c.2467T= (p.Ser823=)
c.2344T= (p.Ser782=)
21g.46549845C>ACA410583957DIP2Ac.2597C>A (p.Ser866Ter)
c.2585C>A (p.Ser862Ter)
c.2705C>A (p.Ser902Ter)
c.2702C>A (p.Ser901Ter)
c.2600C>A (p.Ser867Ter)
c.2573C>A (p.Ser858Ter)
c.2450C>A (p.Ser817Ter)
c.*55C>A (n.*55C>A)
c.2468C>A (p.Ser823Ter)
c.2345C>A (p.Ser782Ter)
21g.46549845C=CA2392733482DIP2Ac.2597C= (p.Ser866=)
c.2585C= (p.Ser862=)
c.2705C= (p.Ser902=)
c.2702C= (p.Ser901=)
c.2600C= (p.Ser867=)
c.2573C= (p.Ser858=)
c.2450C= (p.Ser817=)
c.*55C= (n.*55C=)
c.2468C= (p.Ser823=)
c.2345C= (p.Ser782=)
21g.46549845C>GCA10082477DIP2Ac.2597C>G (p.Ser866Trp)
c.2585C>G (p.Ser862Trp)
c.2705C>G (p.Ser902Trp)
c.2702C>G (p.Ser901Trp)
c.2600C>G (p.Ser867Trp)
c.2573C>G (p.Ser858Trp)
c.2450C>G (p.Ser817Trp)
c.*55C>G (n.*55C>G)
c.2468C>G (p.Ser823Trp)
c.2345C>G (p.Ser782Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46549845C>TCA10082476DIP2Ac.2597C>T (p.Ser866Leu)
c.2585C>T (p.Ser862Leu)
c.2705C>T (p.Ser902Leu)
c.2702C>T (p.Ser901Leu)
c.2600C>T (p.Ser867Leu)
c.2573C>T (p.Ser858Leu)
c.2450C>T (p.Ser817Leu)
c.*55C>T (n.*55C>T)
c.2468C>T (p.Ser823Leu)
c.2345C>T (p.Ser782Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
21g.46549846G>ACA10082478DIP2Ac.2598G>A (p.Ser866=)
c.2586G>A (p.Ser862=)
c.2706G>A (p.Ser902=)
c.2703G>A (p.Ser901=)
c.2601G>A (p.Ser867=)
c.2574G>A (p.Ser858=)
c.2451G>A (p.Ser817=)
c.*56G>A (n.*56G>A)
c.2469G>A (p.Ser823=)
c.2346G>A (p.Ser782=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549846G>CCA512744160DIP2Ac.2598G>C (p.Ser866=)
c.2586G>C (p.Ser862=)
c.2706G>C (p.Ser902=)
c.2703G>C (p.Ser901=)
c.2601G>C (p.Ser867=)
c.2574G>C (p.Ser858=)
c.2451G>C (p.Ser817=)
c.*56G>C (n.*56G>C)
c.2469G>C (p.Ser823=)
c.2346G>C (p.Ser782=)
21g.46549846G=CA2392733483DIP2Ac.2598G= (p.Ser866=)
c.2586G= (p.Ser862=)
c.2706G= (p.Ser902=)
c.2703G= (p.Ser901=)
c.2601G= (p.Ser867=)
c.2574G= (p.Ser858=)
c.2451G= (p.Ser817=)
c.*56G= (n.*56G=)
c.2469G= (p.Ser823=)
c.2346G= (p.Ser782=)
21g.46549846G>TCA512744158DIP2Ac.2598G>T (p.Ser866=)
c.2586G>T (p.Ser862=)
c.2706G>T (p.Ser902=)
c.2703G>T (p.Ser901=)
c.2601G>T (p.Ser867=)
c.2574G>T (p.Ser858=)
c.2451G>T (p.Ser817=)
c.*56G>T (n.*56G>T)
c.2469G>T (p.Ser823=)
c.2346G>T (p.Ser782=)
21g.46549852_46549854delCA2655037513DIP2Ac.2604_2606del (p.Glu868del)
c.2592_2594del (p.Glu864del)
c.2712_2714del (p.Glu904del)
c.2709_2711del (p.Glu903del)
c.2607_2609del (p.Glu869del)
c.2580_2582del (p.Glu860del)
c.2457_2459del (p.Glu819del)
c.*62_*64del (n.*62_*64del)
c.2475_2477del (p.Glu825del)
c.2352_2354del (p.Glu784del)
 gnomAD v4
21g.46549847G>ACA410583958DIP2Ac.2599G>A (p.Glu867Lys)
c.2587G>A (p.Glu863Lys)
c.2707G>A (p.Glu903Lys)
c.2704G>A (p.Glu902Lys)
c.2602G>A (p.Glu868Lys)
c.2575G>A (p.Glu859Lys)
c.2452G>A (p.Glu818Lys)
c.*57G>A (n.*57G>A)
c.2470G>A (p.Glu824Lys)
c.2347G>A (p.Glu783Lys)
21g.46549847G>CCA410583959DIP2Ac.2599G>C (p.Glu867Gln)
c.2587G>C (p.Glu863Gln)
c.2707G>C (p.Glu903Gln)
c.2704G>C (p.Glu902Gln)
c.2602G>C (p.Glu868Gln)
c.2575G>C (p.Glu859Gln)
c.2452G>C (p.Glu818Gln)
c.*57G>C (n.*57G>C)
c.2470G>C (p.Glu824Gln)
c.2347G>C (p.Glu783Gln)
21g.46549847G>TCA410583960DIP2Ac.2599G>T (p.Glu867Ter)
c.2587G>T (p.Glu863Ter)
c.2707G>T (p.Glu903Ter)
c.2704G>T (p.Glu902Ter)
c.2602G>T (p.Glu868Ter)
c.2575G>T (p.Glu859Ter)
c.2452G>T (p.Glu818Ter)
c.*57G>T (n.*57G>T)
c.2470G>T (p.Glu824Ter)
c.2347G>T (p.Glu783Ter)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
21g.46549848A>CCA410583961DIP2Ac.2600A>C (p.Glu867Ala)
c.2588A>C (p.Glu863Ala)
c.2708A>C (p.Glu903Ala)
c.2705A>C (p.Glu902Ala)
c.2603A>C (p.Glu868Ala)
c.2576A>C (p.Glu859Ala)
c.2453A>C (p.Glu818Ala)
c.*58A>C (n.*58A>C)
c.2471A>C (p.Glu824Ala)
c.2348A>C (p.Glu783Ala)
21g.46549848A>GCA410583962DIP2Ac.2600A>G (p.Glu867Gly)
c.2588A>G (p.Glu863Gly)
c.2708A>G (p.Glu903Gly)
c.2705A>G (p.Glu902Gly)
c.2603A>G (p.Glu868Gly)
c.2576A>G (p.Glu859Gly)
c.2453A>G (p.Glu818Gly)
c.*58A>G (n.*58A>G)
c.2471A>G (p.Glu824Gly)
c.2348A>G (p.Glu783Gly)
21g.46549848A>TCA410583963DIP2Ac.2600A>T (p.Glu867Val)
c.2588A>T (p.Glu863Val)
c.2708A>T (p.Glu903Val)
c.2705A>T (p.Glu902Val)
c.2603A>T (p.Glu868Val)
c.2576A>T (p.Glu859Val)
c.2453A>T (p.Glu818Val)
c.*58A>T (n.*58A>T)
c.2471A>T (p.Glu824Val)
c.2348A>T (p.Glu783Val)
21g.46549849G>ACA512744179DIP2Ac.2601G>A (p.Glu867=)
c.2589G>A (p.Glu863=)
c.2709G>A (p.Glu903=)
c.2706G>A (p.Glu902=)
c.2604G>A (p.Glu868=)
c.2577G>A (p.Glu859=)
c.2454G>A (p.Glu818=)
c.*59G>A (n.*59G>A)
c.2472G>A (p.Glu824=)
c.2349G>A (p.Glu783=)
21g.46549849G>CCA410583964DIP2Ac.2601G>C (p.Glu867Asp)
c.2589G>C (p.Glu863Asp)
c.2709G>C (p.Glu903Asp)
c.2706G>C (p.Glu902Asp)
c.2604G>C (p.Glu868Asp)
c.2577G>C (p.Glu859Asp)
c.2454G>C (p.Glu818Asp)
c.*59G>C (n.*59G>C)
c.2472G>C (p.Glu824Asp)
c.2349G>C (p.Glu783Asp)
21g.46549849G>TCA410583965DIP2Ac.2601G>T (p.Glu867Asp)
c.2589G>T (p.Glu863Asp)
c.2709G>T (p.Glu903Asp)
c.2706G>T (p.Glu902Asp)
c.2604G>T (p.Glu868Asp)
c.2577G>T (p.Glu859Asp)
c.2454G>T (p.Glu818Asp)
c.*59G>T (n.*59G>T)
c.2472G>T (p.Glu824Asp)
c.2349G>T (p.Glu783Asp)
 gnomAD v4
21g.46549850G>ACA410583966DIP2Ac.2602G>A (p.Glu868Lys)
c.2590G>A (p.Glu864Lys)
c.2710G>A (p.Glu904Lys)
c.2707G>A (p.Glu903Lys)
c.2605G>A (p.Glu869Lys)
c.2578G>A (p.Glu860Lys)
c.2455G>A (p.Glu819Lys)
c.*60G>A (n.*60G>A)
c.2473G>A (p.Glu825Lys)
c.2350G>A (p.Glu784Lys)
21g.46549850G>CCA410583967DIP2Ac.2602G>C (p.Glu868Gln)
c.2590G>C (p.Glu864Gln)
c.2710G>C (p.Glu904Gln)
c.2707G>C (p.Glu903Gln)
c.2605G>C (p.Glu869Gln)
c.2578G>C (p.Glu860Gln)
c.2455G>C (p.Glu819Gln)
c.*60G>C (n.*60G>C)
c.2473G>C (p.Glu825Gln)
c.2350G>C (p.Glu784Gln)
21g.46549850G=CA2392733484DIP2Ac.2602G= (p.Glu868=)
c.2590G= (p.Glu864=)
c.2710G= (p.Glu904=)
c.2707G= (p.Glu903=)
c.2605G= (p.Glu869=)
c.2578G= (p.Glu860=)
c.2455G= (p.Glu819=)
c.*60G= (n.*60G=)
c.2473G= (p.Glu825=)
c.2350G= (p.Glu784=)
21g.46549850G>TCA10082479DIP2Ac.2602G>T (p.Glu868Ter)
c.2590G>T (p.Glu864Ter)
c.2710G>T (p.Glu904Ter)
c.2707G>T (p.Glu903Ter)
c.2605G>T (p.Glu869Ter)
c.2578G>T (p.Glu860Ter)
c.2455G>T (p.Glu819Ter)
c.*60G>T (n.*60G>T)
c.2473G>T (p.Glu825Ter)
c.2350G>T (p.Glu784Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46549851A=CA2392733485DIP2Ac.2603A= (p.Glu868=)
c.2591A= (p.Glu864=)
c.2711A= (p.Glu904=)
c.2708A= (p.Glu903=)
c.2606A= (p.Glu869=)
c.2579A= (p.Glu860=)
c.2456A= (p.Glu819=)
c.*61A= (n.*61A=)
c.2474A= (p.Glu825=)
c.2351A= (p.Glu784=)
21g.46549851A>CCA410583969DIP2Ac.2603A>C (p.Glu868Ala)
c.2591A>C (p.Glu864Ala)
c.2711A>C (p.Glu904Ala)
c.2708A>C (p.Glu903Ala)
c.2606A>C (p.Glu869Ala)
c.2579A>C (p.Glu860Ala)
c.2456A>C (p.Glu819Ala)
c.*61A>C (n.*61A>C)
c.2474A>C (p.Glu825Ala)
c.2351A>C (p.Glu784Ala)
21g.46549851A>GCA410583968DIP2Ac.2603A>G (p.Glu868Gly)
c.2591A>G (p.Glu864Gly)
c.2711A>G (p.Glu904Gly)
c.2708A>G (p.Glu903Gly)
c.2606A>G (p.Glu869Gly)
c.2579A>G (p.Glu860Gly)
c.2456A>G (p.Glu819Gly)
c.*61A>G (n.*61A>G)
c.2474A>G (p.Glu825Gly)
c.2351A>G (p.Glu784Gly)
21g.46549851A>TCA10082480DIP2Ac.2603A>T (p.Glu868Val)
c.2591A>T (p.Glu864Val)
c.2711A>T (p.Glu904Val)
c.2708A>T (p.Glu903Val)
c.2606A>T (p.Glu869Val)
c.2579A>T (p.Glu860Val)
c.2456A>T (p.Glu819Val)
c.*61A>T (n.*61A>T)
c.2474A>T (p.Glu825Val)
c.2351A>T (p.Glu784Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46549852G>ACA10082481DIP2Ac.2604G>A (p.Glu868=)
c.2592G>A (p.Glu864=)
c.2712G>A (p.Glu904=)
c.2709G>A (p.Glu903=)
c.2607G>A (p.Glu869=)
c.2580G>A (p.Glu860=)
c.2457G>A (p.Glu819=)
c.*62G>A (n.*62G>A)
c.2475G>A (p.Glu825=)
c.2352G>A (p.Glu784=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549852G>CCA410583970DIP2Ac.2604G>C (p.Glu868Asp)
c.2592G>C (p.Glu864Asp)
c.2712G>C (p.Glu904Asp)
c.2709G>C (p.Glu903Asp)
c.2607G>C (p.Glu869Asp)
c.2580G>C (p.Glu860Asp)
c.2457G>C (p.Glu819Asp)
c.*62G>C (n.*62G>C)
c.2475G>C (p.Glu825Asp)
c.2352G>C (p.Glu784Asp)
21g.46549852G=CA2392733486DIP2Ac.2604G= (p.Glu868=)
c.2592G= (p.Glu864=)
c.2712G= (p.Glu904=)
c.2709G= (p.Glu903=)
c.2607G= (p.Glu869=)
c.2580G= (p.Glu860=)
c.2457G= (p.Glu819=)
c.*62G= (n.*62G=)
c.2475G= (p.Glu825=)
c.2352G= (p.Glu784=)
21g.46549852G>TCA410583971DIP2Ac.2604G>T (p.Glu868Asp)
c.2592G>T (p.Glu864Asp)
c.2712G>T (p.Glu904Asp)
c.2709G>T (p.Glu903Asp)
c.2607G>T (p.Glu869Asp)
c.2580G>T (p.Glu860Asp)
c.2457G>T (p.Glu819Asp)
c.*62G>T (n.*62G>T)
c.2475G>T (p.Glu825Asp)
c.2352G>T (p.Glu784Asp)
 gnomAD v4
21g.46549853G>ACA410583972DIP2Ac.2605G>A (p.Asp869Asn)
c.2593G>A (p.Asp865Asn)
c.2713G>A (p.Asp905Asn)
c.2710G>A (p.Asp904Asn)
c.2608G>A (p.Asp870Asn)
c.2581G>A (p.Asp861Asn)
c.2458G>A (p.Asp820Asn)
c.*63G>A (n.*63G>A)
c.2476G>A (p.Asp826Asn)
c.2353G>A (p.Asp785Asn)
 dbSNP
21g.46549853G>CCA410583973DIP2Ac.2605G>C (p.Asp869His)
c.2593G>C (p.Asp865His)
c.2713G>C (p.Asp905His)
c.2710G>C (p.Asp904His)
c.2608G>C (p.Asp870His)
c.2581G>C (p.Asp861His)
c.2458G>C (p.Asp820His)
c.*63G>C (n.*63G>C)
c.2476G>C (p.Asp826His)
c.2353G>C (p.Asp785His)
21g.46549853G=CA2392733487DIP2Ac.2605G= (p.Asp869=)
c.2593G= (p.Asp865=)
c.2713G= (p.Asp905=)
c.2710G= (p.Asp904=)
c.2608G= (p.Asp870=)
c.2581G= (p.Asp861=)
c.2458G= (p.Asp820=)
c.*63G= (n.*63G=)
c.2476G= (p.Asp826=)
c.2353G= (p.Asp785=)
21g.46549853G>TCA410583974DIP2Ac.2605G>T (p.Asp869Tyr)
c.2593G>T (p.Asp865Tyr)
c.2713G>T (p.Asp905Tyr)
c.2710G>T (p.Asp904Tyr)
c.2608G>T (p.Asp870Tyr)
c.2581G>T (p.Asp861Tyr)
c.2458G>T (p.Asp820Tyr)
c.*63G>T (n.*63G>T)
c.2476G>T (p.Asp826Tyr)
c.2353G>T (p.Asp785Tyr)
21g.46549854A=CA2392733488DIP2Ac.2606A= (p.Asp869=)
c.2594A= (p.Asp865=)
c.2714A= (p.Asp905=)
c.2711A= (p.Asp904=)
c.2609A= (p.Asp870=)
c.2582A= (p.Asp861=)
c.2459A= (p.Asp820=)
c.*64A= (n.*64A=)
c.2477A= (p.Asp826=)
c.2354A= (p.Asp785=)
21g.46549854A>CCA410583975DIP2Ac.2606A>C (p.Asp869Ala)
c.2594A>C (p.Asp865Ala)
c.2714A>C (p.Asp905Ala)
c.2711A>C (p.Asp904Ala)
c.2609A>C (p.Asp870Ala)
c.2582A>C (p.Asp861Ala)
c.2459A>C (p.Asp820Ala)
c.*64A>C (n.*64A>C)
c.2477A>C (p.Asp826Ala)
c.2354A>C (p.Asp785Ala)
21g.46549854A>GCA10082482DIP2Ac.2606A>G (p.Asp869Gly)
c.2594A>G (p.Asp865Gly)
c.2714A>G (p.Asp905Gly)
c.2711A>G (p.Asp904Gly)
c.2609A>G (p.Asp870Gly)
c.2582A>G (p.Asp861Gly)
c.2459A>G (p.Asp820Gly)
c.*64A>G (n.*64A>G)
c.2477A>G (p.Asp826Gly)
c.2354A>G (p.Asp785Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549854A>TCA410583976DIP2Ac.2606A>T (p.Asp869Val)
c.2594A>T (p.Asp865Val)
c.2714A>T (p.Asp905Val)
c.2711A>T (p.Asp904Val)
c.2609A>T (p.Asp870Val)
c.2582A>T (p.Asp861Val)
c.2459A>T (p.Asp820Val)
c.*64A>T (n.*64A>T)
c.2477A>T (p.Asp826Val)
c.2354A>T (p.Asp785Val)
21g.46549855C>ACA410583977DIP2Ac.2607C>A (p.Asp869Glu)
c.2595C>A (p.Asp865Glu)
c.2715C>A (p.Asp905Glu)
c.2712C>A (p.Asp904Glu)
c.2610C>A (p.Asp870Glu)
c.2583C>A (p.Asp861Glu)
c.2460C>A (p.Asp820Glu)
c.*65C>A (n.*65C>A)
c.2478C>A (p.Asp826Glu)
c.2355C>A (p.Asp785Glu)
21g.46549855C=CA2392733489DIP2Ac.2607C= (p.Asp869=)
c.2595C= (p.Asp865=)
c.2715C= (p.Asp905=)
c.2712C= (p.Asp904=)
c.2610C= (p.Asp870=)
c.2583C= (p.Asp861=)
c.2460C= (p.Asp820=)
c.*65C= (n.*65C=)
c.2478C= (p.Asp826=)
c.2355C= (p.Asp785=)
21g.46549855C>GCA410583978DIP2Ac.2607C>G (p.Asp869Glu)
c.2595C>G (p.Asp865Glu)
c.2715C>G (p.Asp905Glu)
c.2712C>G (p.Asp904Glu)
c.2610C>G (p.Asp870Glu)
c.2583C>G (p.Asp861Glu)
c.2460C>G (p.Asp820Glu)
c.*65C>G (n.*65C>G)
c.2478C>G (p.Asp826Glu)
c.2355C>G (p.Asp785Glu)
21g.46549855C>TCA512744207DIP2Ac.2607C>T (p.Asp869=)
c.2595C>T (p.Asp865=)
c.2715C>T (p.Asp905=)
c.2712C>T (p.Asp904=)
c.2610C>T (p.Asp870=)
c.2583C>T (p.Asp861=)
c.2460C>T (p.Asp820=)
c.*65C>T (n.*65C>T)
c.2478C>T (p.Asp826=)
c.2355C>T (p.Asp785=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46549856A>CCA410583979DIP2Ac.2608A>C (p.Ser870Arg)
c.2596A>C (p.Ser866Arg)
c.2716A>C (p.Ser906Arg)
c.2713A>C (p.Ser905Arg)
c.2611A>C (p.Ser871Arg)
c.2584A>C (p.Ser862Arg)
c.2461A>C (p.Ser821Arg)
c.*66A>C (n.*66A>C)
c.2479A>C (p.Ser827Arg)
c.2356A>C (p.Ser786Arg)
21g.46549856A>GCA410583980DIP2Ac.2608A>G (p.Ser870Gly)
c.2596A>G (p.Ser866Gly)
c.2716A>G (p.Ser906Gly)
c.2713A>G (p.Ser905Gly)
c.2611A>G (p.Ser871Gly)
c.2584A>G (p.Ser862Gly)
c.2461A>G (p.Ser821Gly)
c.*66A>G (n.*66A>G)
c.2479A>G (p.Ser827Gly)
c.2356A>G (p.Ser786Gly)
21g.46549856A>TCA410583981DIP2Ac.2608A>T (p.Ser870Cys)
c.2596A>T (p.Ser866Cys)
c.2716A>T (p.Ser906Cys)
c.2713A>T (p.Ser905Cys)
c.2611A>T (p.Ser871Cys)
c.2584A>T (p.Ser862Cys)
c.2461A>T (p.Ser821Cys)
c.*66A>T (n.*66A>T)
c.2479A>T (p.Ser827Cys)
c.2356A>T (p.Ser786Cys)
21g.46549857G>ACA410583982DIP2Ac.2609G>A (p.Ser870Asn)
c.2597G>A (p.Ser866Asn)
c.2717G>A (p.Ser906Asn)
c.2714G>A (p.Ser905Asn)
c.2612G>A (p.Ser871Asn)
c.2585G>A (p.Ser862Asn)
c.2462G>A (p.Ser821Asn)
c.*67G>A (n.*67G>A)
c.2480G>A (p.Ser827Asn)
c.2357G>A (p.Ser786Asn)
 gnomAD v4 COSMIC
21g.46549857G>CCA410583983DIP2Ac.2609G>C (p.Ser870Thr)
c.2597G>C (p.Ser866Thr)
c.2717G>C (p.Ser906Thr)
c.2714G>C (p.Ser905Thr)
c.2612G>C (p.Ser871Thr)
c.2585G>C (p.Ser862Thr)
c.2462G>C (p.Ser821Thr)
c.*67G>C (n.*67G>C)
c.2480G>C (p.Ser827Thr)
c.2357G>C (p.Ser786Thr)
 gnomAD v4
21g.46549857G>TCA410583984DIP2Ac.2609G>T (p.Ser870Ile)
c.2597G>T (p.Ser866Ile)
c.2717G>T (p.Ser906Ile)
c.2714G>T (p.Ser905Ile)
c.2612G>T (p.Ser871Ile)
c.2585G>T (p.Ser862Ile)
c.2462G>T (p.Ser821Ile)
c.*67G>T (n.*67G>T)
c.2480G>T (p.Ser827Ile)
c.2357G>T (p.Ser786Ile)
 gnomAD v4
21g.46549858C>ACA410583985DIP2Ac.2610C>A (p.Ser870Arg)
c.2598C>A (p.Ser866Arg)
c.2718C>A (p.Ser906Arg)
c.2715C>A (p.Ser905Arg)
c.2613C>A (p.Ser871Arg)
c.2586C>A (p.Ser862Arg)
c.2463C>A (p.Ser821Arg)
c.*68C>A (n.*68C>A)
c.2481C>A (p.Ser827Arg)
c.2358C>A (p.Ser786Arg)
21g.46549858C=CA2392733490DIP2Ac.2610C= (p.Ser870=)
c.2598C= (p.Ser866=)
c.2718C= (p.Ser906=)
c.2715C= (p.Ser905=)
c.2613C= (p.Ser871=)
c.2586C= (p.Ser862=)
c.2463C= (p.Ser821=)
c.*68C= (n.*68C=)
c.2481C= (p.Ser827=)
c.2358C= (p.Ser786=)
21g.46549858C>GCA410583986DIP2Ac.2610C>G (p.Ser870Arg)
c.2598C>G (p.Ser866Arg)
c.2718C>G (p.Ser906Arg)
c.2715C>G (p.Ser905Arg)
c.2613C>G (p.Ser871Arg)
c.2586C>G (p.Ser862Arg)
c.2463C>G (p.Ser821Arg)
c.*68C>G (n.*68C>G)
c.2481C>G (p.Ser827Arg)
c.2358C>G (p.Ser786Arg)
21g.46549858C>TCA512744243DIP2Ac.2610C>T (p.Ser870=)
c.2598C>T (p.Ser866=)
c.2718C>T (p.Ser906=)
c.2715C>T (p.Ser905=)
c.2613C>T (p.Ser871=)
c.2586C>T (p.Ser862=)
c.2463C>T (p.Ser821=)
c.*68C>T (n.*68C>T)
c.2481C>T (p.Ser827=)
c.2358C>T (p.Ser786=)
 dbSNP gnomAD v2 gnomAD v4
21g.46549859T>ACA410583987DIP2Ac.2611T>A (p.Phe871Ile)
c.2599T>A (p.Phe867Ile)
c.2719T>A (p.Phe907Ile)
c.2716T>A (p.Phe906Ile)
c.2614T>A (p.Phe872Ile)
c.2587T>A (p.Phe863Ile)
c.2464T>A (p.Phe822Ile)
c.*69T>A (n.*69T>A)
c.2482T>A (p.Phe828Ile)
c.2359T>A (p.Phe787Ile)
21g.46549859T>CCA410583988DIP2Ac.2611T>C (p.Phe871Leu)
c.2599T>C (p.Phe867Leu)
c.2719T>C (p.Phe907Leu)
c.2716T>C (p.Phe906Leu)
c.2614T>C (p.Phe872Leu)
c.2587T>C (p.Phe863Leu)
c.2464T>C (p.Phe822Leu)
c.*69T>C (n.*69T>C)
c.2482T>C (p.Phe828Leu)
c.2359T>C (p.Phe787Leu)
21g.46549859T>GCA410583989DIP2Ac.2611T>G (p.Phe871Val)
c.2599T>G (p.Phe867Val)
c.2719T>G (p.Phe907Val)
c.2716T>G (p.Phe906Val)
c.2614T>G (p.Phe872Val)
c.2587T>G (p.Phe863Val)
c.2464T>G (p.Phe822Val)
c.*69T>G (n.*69T>G)
c.2482T>G (p.Phe828Val)
c.2359T>G (p.Phe787Val)
21g.46549860T>ACA410583990DIP2Ac.2612T>A (p.Phe871Tyr)
c.2600T>A (p.Phe867Tyr)
c.2720T>A (p.Phe907Tyr)
c.2717T>A (p.Phe906Tyr)
c.2615T>A (p.Phe872Tyr)
c.2588T>A (p.Phe863Tyr)
c.2465T>A (p.Phe822Tyr)
c.*70T>A (n.*70T>A)
c.2483T>A (p.Phe828Tyr)
c.2360T>A (p.Phe787Tyr)
21g.46549860T>CCA410583991DIP2Ac.2612T>C (p.Phe871Ser)
c.2600T>C (p.Phe867Ser)
c.2720T>C (p.Phe907Ser)
c.2717T>C (p.Phe906Ser)
c.2615T>C (p.Phe872Ser)
c.2588T>C (p.Phe863Ser)
c.2465T>C (p.Phe822Ser)
c.*70T>C (n.*70T>C)
c.2483T>C (p.Phe828Ser)
c.2360T>C (p.Phe787Ser)
21g.46549860T>GCA410583992DIP2Ac.2612T>G (p.Phe871Cys)
c.2600T>G (p.Phe867Cys)
c.2720T>G (p.Phe907Cys)
c.2717T>G (p.Phe906Cys)
c.2615T>G (p.Phe872Cys)
c.2588T>G (p.Phe863Cys)
c.2465T>G (p.Phe822Cys)
c.*70T>G (n.*70T>G)
c.2483T>G (p.Phe828Cys)
c.2360T>G (p.Phe787Cys)
21g.46549861C>ACA410583993DIP2Ac.2613C>A (p.Phe871Leu)
c.2601C>A (p.Phe867Leu)
c.2721C>A (p.Phe907Leu)
c.2718C>A (p.Phe906Leu)
c.2616C>A (p.Phe872Leu)
c.2589C>A (p.Phe863Leu)
c.2466C>A (p.Phe822Leu)
c.*71C>A (n.*71C>A)
c.2484C>A (p.Phe828Leu)
c.2361C>A (p.Phe787Leu)
 dbSNP gnomAD v2
21g.46549861C=CA2392733491DIP2Ac.2613C= (p.Phe871=)
c.2601C= (p.Phe867=)
c.2721C= (p.Phe907=)
c.2718C= (p.Phe906=)
c.2616C= (p.Phe872=)
c.2589C= (p.Phe863=)
c.2466C= (p.Phe822=)
c.*71C= (n.*71C=)
c.2484C= (p.Phe828=)
c.2361C= (p.Phe787=)
21g.46549861C>GCA410583994DIP2Ac.2613C>G (p.Phe871Leu)
c.2601C>G (p.Phe867Leu)
c.2721C>G (p.Phe907Leu)
c.2718C>G (p.Phe906Leu)
c.2616C>G (p.Phe872Leu)
c.2589C>G (p.Phe863Leu)
c.2466C>G (p.Phe822Leu)
c.*71C>G (n.*71C>G)
c.2484C>G (p.Phe828Leu)
c.2361C>G (p.Phe787Leu)
21g.46549861C>TCA512744264DIP2Ac.2613C>T (p.Phe871=)
c.2601C>T (p.Phe867=)
c.2721C>T (p.Phe907=)
c.2718C>T (p.Phe906=)
c.2616C>T (p.Phe872=)
c.2589C>T (p.Phe863=)
c.2466C>T (p.Phe822=)
c.*71C>T (n.*71C>T)
c.2484C>T (p.Phe828=)
c.2361C>T (p.Phe787=)
 COSMIC COSMIC COSMIC COSMIC
21g.46549862C>ACA410583995DIP2Ac.2614C>A (p.Gln872Lys)
c.2602C>A (p.Gln868Lys)
c.2722C>A (p.Gln908Lys)
c.2719C>A (p.Gln907Lys)
c.2617C>A (p.Gln873Lys)
c.2590C>A (p.Gln864Lys)
c.2467C>A (p.Gln823Lys)
c.*72C>A (n.*72C>A)
c.2485C>A (p.Gln829Lys)
c.2362C>A (p.Gln788Lys)
21g.46549862C=CA2392733492DIP2Ac.2614C= (p.Gln872=)
c.2602C= (p.Gln868=)
c.2722C= (p.Gln908=)
c.2719C= (p.Gln907=)
c.2617C= (p.Gln873=)
c.2590C= (p.Gln864=)
c.2467C= (p.Gln823=)
c.*72C= (n.*72C=)
c.2485C= (p.Gln829=)
c.2362C= (p.Gln788=)
21g.46549862C>GCA410583996DIP2Ac.2614C>G (p.Gln872Glu)
c.2602C>G (p.Gln868Glu)
c.2722C>G (p.Gln908Glu)
c.2719C>G (p.Gln907Glu)
c.2617C>G (p.Gln873Glu)
c.2590C>G (p.Gln864Glu)
c.2467C>G (p.Gln823Glu)
c.*72C>G (n.*72C>G)
c.2485C>G (p.Gln829Glu)
c.2362C>G (p.Gln788Glu)
21g.46549862C>TCA410583997DIP2Ac.2614C>T (p.Gln872Ter)
c.2602C>T (p.Gln868Ter)
c.2722C>T (p.Gln908Ter)
c.2719C>T (p.Gln907Ter)
c.2617C>T (p.Gln873Ter)
c.2590C>T (p.Gln864Ter)
c.2467C>T (p.Gln823Ter)
c.*72C>T (n.*72C>T)
c.2485C>T (p.Gln829Ter)
c.2362C>T (p.Gln788Ter)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
21g.46549863A>CCA410584000DIP2Ac.2615A>C (p.Gln872Pro)
c.2603A>C (p.Gln868Pro)
c.2723A>C (p.Gln908Pro)
c.2720A>C (p.Gln907Pro)
c.2618A>C (p.Gln873Pro)
c.2591A>C (p.Gln864Pro)
c.2468A>C (p.Gln823Pro)
c.*73A>C (n.*73A>C)
c.2486A>C (p.Gln829Pro)
c.2363A>C (p.Gln788Pro)
21g.46549863A>GCA410583999DIP2Ac.2615A>G (p.Gln872Arg)
c.2603A>G (p.Gln868Arg)
c.2723A>G (p.Gln908Arg)
c.2720A>G (p.Gln907Arg)
c.2618A>G (p.Gln873Arg)
c.2591A>G (p.Gln864Arg)
c.2468A>G (p.Gln823Arg)
c.*73A>G (n.*73A>G)
c.2486A>G (p.Gln829Arg)
c.2363A>G (p.Gln788Arg)
21g.46549863A>TCA410583998DIP2Ac.2615A>T (p.Gln872Leu)
c.2603A>T (p.Gln868Leu)
c.2723A>T (p.Gln908Leu)
c.2720A>T (p.Gln907Leu)
c.2618A>T (p.Gln873Leu)
c.2591A>T (p.Gln864Leu)
c.2468A>T (p.Gln823Leu)
c.*73A>T (n.*73A>T)
c.2486A>T (p.Gln829Leu)
c.2363A>T (p.Gln788Leu)
21g.46549864G>ACA512744281DIP2Ac.2616G>A (p.Gln872=)
c.2604G>A (p.Gln868=)
c.2724G>A (p.Gln908=)
c.2721G>A (p.Gln907=)
c.2619G>A (p.Gln873=)
c.2592G>A (p.Gln864=)
c.2469G>A (p.Gln823=)
c.*74G>A (n.*74G>A)
c.2487G>A (p.Gln829=)
c.2364G>A (p.Gln788=)
 gnomAD v4
21g.46549864G>CCA410584001DIP2Ac.2616G>C (p.Gln872His)
c.2604G>C (p.Gln868His)
c.2724G>C (p.Gln908His)
c.2721G>C (p.Gln907His)
c.2619G>C (p.Gln873His)
c.2592G>C (p.Gln864His)
c.2469G>C (p.Gln823His)
c.*74G>C (n.*74G>C)
c.2487G>C (p.Gln829His)
c.2364G>C (p.Gln788His)
 dbSNP gnomAD v4
21g.46549864G=CA2392733493DIP2Ac.2616G= (p.Gln872=)
c.2604G= (p.Gln868=)
c.2724G= (p.Gln908=)
c.2721G= (p.Gln907=)
c.2619G= (p.Gln873=)
c.2592G= (p.Gln864=)
c.2469G= (p.Gln823=)
c.*74G= (n.*74G=)
c.2487G= (p.Gln829=)
c.2364G= (p.Gln788=)
21g.46549864G>TCA410584002DIP2Ac.2616G>T (p.Gln872His)
c.2604G>T (p.Gln868His)
c.2724G>T (p.Gln908His)
c.2721G>T (p.Gln907His)
c.2619G>T (p.Gln873His)
c.2592G>T (p.Gln864His)
c.2469G>T (p.Gln823His)
c.*74G>T (n.*74G>T)
c.2487G>T (p.Gln829His)
c.2364G>T (p.Gln788His)
 gnomAD v4
21g.46549865T>ACA410584003DIP2Ac.2617T>A (p.Trp873Arg)
c.2605T>A (p.Trp869Arg)
c.2725T>A (p.Trp909Arg)
c.2722T>A (p.Trp908Arg)
c.2620T>A (p.Trp874Arg)
c.2593T>A (p.Trp865Arg)
c.2470T>A (p.Trp824Arg)
c.*75T>A (n.*75T>A)
c.2488T>A (p.Trp830Arg)
c.2365T>A (p.Trp789Arg)
21g.46549865T>CCA410584004DIP2Ac.2617T>C (p.Trp873Arg)
c.2605T>C (p.Trp869Arg)
c.2725T>C (p.Trp909Arg)
c.2722T>C (p.Trp908Arg)
c.2620T>C (p.Trp874Arg)
c.2593T>C (p.Trp865Arg)
c.2470T>C (p.Trp824Arg)
c.*75T>C (n.*75T>C)
c.2488T>C (p.Trp830Arg)
c.2365T>C (p.Trp789Arg)
21g.46549865T>GCA410584005DIP2Ac.2617T>G (p.Trp873Gly)
c.2605T>G (p.Trp869Gly)
c.2725T>G (p.Trp909Gly)
c.2722T>G (p.Trp908Gly)
c.2620T>G (p.Trp874Gly)
c.2593T>G (p.Trp865Gly)
c.2470T>G (p.Trp824Gly)
c.*75T>G (n.*75T>G)
c.2488T>G (p.Trp830Gly)
c.2365T>G (p.Trp789Gly)
21g.46549866G>ACA410584008DIP2Ac.2618G>A (p.Trp873Ter)
c.2606G>A (p.Trp869Ter)
c.2726G>A (p.Trp909Ter)
c.2723G>A (p.Trp908Ter)
c.2621G>A (p.Trp874Ter)
c.2594G>A (p.Trp865Ter)
c.2471G>A (p.Trp824Ter)
c.*76G>A (n.*76G>A)
c.2489G>A (p.Trp830Ter)
c.2366G>A (p.Trp789Ter)
21g.46549866G>CCA410584007DIP2Ac.2618G>C (p.Trp873Ser)
c.2606G>C (p.Trp869Ser)
c.2726G>C (p.Trp909Ser)
c.2723G>C (p.Trp908Ser)
c.2621G>C (p.Trp874Ser)
c.2594G>C (p.Trp865Ser)
c.2471G>C (p.Trp824Ser)
c.*76G>C (n.*76G>C)
c.2489G>C (p.Trp830Ser)
c.2366G>C (p.Trp789Ser)
21g.46549866G>TCA410584006DIP2Ac.2618G>T (p.Trp873Leu)
c.2606G>T (p.Trp869Leu)
c.2726G>T (p.Trp909Leu)
c.2723G>T (p.Trp908Leu)
c.2621G>T (p.Trp874Leu)
c.2594G>T (p.Trp865Leu)
c.2471G>T (p.Trp824Leu)
c.*76G>T (n.*76G>T)
c.2489G>T (p.Trp830Leu)
c.2366G>T (p.Trp789Leu)
 gnomAD v4
21g.46549867G>ACA410584009DIP2Ac.2619G>A (p.Trp873Ter)
c.2607G>A (p.Trp869Ter)
c.2727G>A (p.Trp909Ter)
c.2724G>A (p.Trp908Ter)
c.2622G>A (p.Trp874Ter)
c.2595G>A (p.Trp865Ter)
c.2472G>A (p.Trp824Ter)
c.*77G>A (n.*77G>A)
c.2490G>A (p.Trp830Ter)
c.2367G>A (p.Trp789Ter)
 dbSNP gnomAD v4
21g.46549867G>CCA410584010DIP2Ac.2619G>C (p.Trp873Cys)
c.2607G>C (p.Trp869Cys)
c.2727G>C (p.Trp909Cys)
c.2724G>C (p.Trp908Cys)
c.2622G>C (p.Trp874Cys)
c.2595G>C (p.Trp865Cys)
c.2472G>C (p.Trp824Cys)
c.*77G>C (n.*77G>C)
c.2490G>C (p.Trp830Cys)
c.2367G>C (p.Trp789Cys)
 dbSNP gnomAD v2 gnomAD v4
21g.46549867G=CA2392733494DIP2Ac.2619G= (p.Trp873=)
c.2607G= (p.Trp869=)
c.2727G= (p.Trp909=)
c.2724G= (p.Trp908=)
c.2622G= (p.Trp874=)
c.2595G= (p.Trp865=)
c.2472G= (p.Trp824=)
c.*77G= (n.*77G=)
c.2490G= (p.Trp830=)
c.2367G= (p.Trp789=)
21g.46549867G>TCA410584011DIP2Ac.2619G>T (p.Trp873Cys)
c.2607G>T (p.Trp869Cys)
c.2727G>T (p.Trp909Cys)
c.2724G>T (p.Trp908Cys)
c.2622G>T (p.Trp874Cys)
c.2595G>T (p.Trp865Cys)
c.2472G>T (p.Trp824Cys)
c.*77G>T (n.*77G>T)
c.2490G>T (p.Trp830Cys)
c.2367G>T (p.Trp789Cys)
 gnomAD v4
21g.46549868A>CCA410584012DIP2Ac.2620A>C (p.Met874Leu)
c.2608A>C (p.Met870Leu)
c.2728A>C (p.Met910Leu)
c.2725A>C (p.Met909Leu)
c.2623A>C (p.Met875Leu)
c.2596A>C (p.Met866Leu)
c.2473A>C (p.Met825Leu)
c.*78A>C (n.*78A>C)
c.2491A>C (p.Met831Leu)
c.2368A>C (p.Met790Leu)
21g.46549868A>GCA410584013DIP2Ac.2620A>G (p.Met874Val)
c.2608A>G (p.Met870Val)
c.2728A>G (p.Met910Val)
c.2725A>G (p.Met909Val)
c.2623A>G (p.Met875Val)
c.2596A>G (p.Met866Val)
c.2473A>G (p.Met825Val)
c.*78A>G (n.*78A>G)
c.2491A>G (p.Met831Val)
c.2368A>G (p.Met790Val)
 gnomAD v4
21g.46549868A>TCA410584014DIP2Ac.2620A>T (p.Met874Leu)
c.2608A>T (p.Met870Leu)
c.2728A>T (p.Met910Leu)
c.2725A>T (p.Met909Leu)
c.2623A>T (p.Met875Leu)
c.2596A>T (p.Met866Leu)
c.2473A>T (p.Met825Leu)
c.*78A>T (n.*78A>T)
c.2491A>T (p.Met831Leu)
c.2368A>T (p.Met790Leu)
21g.46549869T>ACA410584015DIP2Ac.2621T>A (p.Met874Lys)
c.2609T>A (p.Met870Lys)
c.2729T>A (p.Met910Lys)
c.2726T>A (p.Met909Lys)
c.2624T>A (p.Met875Lys)
c.2597T>A (p.Met866Lys)
c.2474T>A (p.Met825Lys)
c.*79T>A (n.*79T>A)
c.2492T>A (p.Met831Lys)
c.2369T>A (p.Met790Lys)
21g.46549869T>CCA410584017DIP2Ac.2621T>C (p.Met874Thr)
c.2609T>C (p.Met870Thr)
c.2729T>C (p.Met910Thr)
c.2726T>C (p.Met909Thr)
c.2624T>C (p.Met875Thr)
c.2597T>C (p.Met866Thr)
c.2474T>C (p.Met825Thr)
c.*79T>C (n.*79T>C)
c.2492T>C (p.Met831Thr)
c.2369T>C (p.Met790Thr)
 dbSNP gnomAD v4
21g.46549869T>GCA410584016DIP2Ac.2621T>G (p.Met874Arg)
c.2609T>G (p.Met870Arg)
c.2729T>G (p.Met910Arg)
c.2726T>G (p.Met909Arg)
c.2624T>G (p.Met875Arg)
c.2597T>G (p.Met866Arg)
c.2474T>G (p.Met825Arg)
c.*79T>G (n.*79T>G)
c.2492T>G (p.Met831Arg)
c.2369T>G (p.Met790Arg)
21g.46549869T=CA2392733495DIP2Ac.2621T= (p.Met874=)
c.2609T= (p.Met870=)
c.2729T= (p.Met910=)
c.2726T= (p.Met909=)
c.2624T= (p.Met875=)
c.2597T= (p.Met866=)
c.2474T= (p.Met825=)
c.*79T= (n.*79T=)
c.2492T= (p.Met831=)
c.2369T= (p.Met790=)
21g.46549870G>ACA410584018DIP2Ac.2622G>A (p.Met874Ile)
c.2610G>A (p.Met870Ile)
c.2730G>A (p.Met910Ile)
c.2727G>A (p.Met909Ile)
c.2625G>A (p.Met875Ile)
c.2598G>A (p.Met866Ile)
c.2475G>A (p.Met825Ile)
c.*80G>A (n.*80G>A)
c.2493G>A (p.Met831Ile)
c.2370G>A (p.Met790Ile)
21g.46549870G>CCA410584019DIP2Ac.2622G>C (p.Met874Ile)
c.2610G>C (p.Met870Ile)
c.2730G>C (p.Met910Ile)
c.2727G>C (p.Met909Ile)
c.2625G>C (p.Met875Ile)
c.2598G>C (p.Met866Ile)
c.2475G>C (p.Met825Ile)
c.*80G>C (n.*80G>C)
c.2493G>C (p.Met831Ile)
c.2370G>C (p.Met790Ile)
21g.46549870G>TCA410584020DIP2Ac.2622G>T (p.Met874Ile)
c.2610G>T (p.Met870Ile)
c.2730G>T (p.Met910Ile)
c.2727G>T (p.Met909Ile)
c.2625G>T (p.Met875Ile)
c.2598G>T (p.Met866Ile)
c.2475G>T (p.Met825Ile)
c.*80G>T (n.*80G>T)
c.2493G>T (p.Met831Ile)
c.2370G>T (p.Met790Ile)
21g.46549871A>CCA410584021DIP2Ac.2623A>C (p.Ser875Arg)
c.2611A>C (p.Ser871Arg)
c.2731A>C (p.Ser911Arg)
c.2728A>C (p.Ser910Arg)
c.2626A>C (p.Ser876Arg)
c.2599A>C (p.Ser867Arg)
c.2476A>C (p.Ser826Arg)
c.*81A>C (n.*81A>C)
c.2494A>C (p.Ser832Arg)
c.2371A>C (p.Ser791Arg)
21g.46549871A>GCA410584022DIP2Ac.2623A>G (p.Ser875Gly)
c.2611A>G (p.Ser871Gly)
c.2731A>G (p.Ser911Gly)
c.2728A>G (p.Ser910Gly)
c.2626A>G (p.Ser876Gly)
c.2599A>G (p.Ser867Gly)
c.2476A>G (p.Ser826Gly)
c.*81A>G (n.*81A>G)
c.2494A>G (p.Ser832Gly)
c.2371A>G (p.Ser791Gly)
 gnomAD v4
21g.46549871A>TCA410584023DIP2Ac.2623A>T (p.Ser875Cys)
c.2611A>T (p.Ser871Cys)
c.2731A>T (p.Ser911Cys)
c.2728A>T (p.Ser910Cys)
c.2626A>T (p.Ser876Cys)
c.2599A>T (p.Ser867Cys)
c.2476A>T (p.Ser826Cys)
c.*81A>T (n.*81A>T)
c.2494A>T (p.Ser832Cys)
c.2371A>T (p.Ser791Cys)
21g.46549872G>ACA410584024DIP2Ac.2624G>A (p.Ser875Asn)
c.2612G>A (p.Ser871Asn)
c.2732G>A (p.Ser911Asn)
c.2729G>A (p.Ser910Asn)
c.2627G>A (p.Ser876Asn)
c.2600G>A (p.Ser867Asn)
c.2477G>A (p.Ser826Asn)
c.*82G>A (n.*82G>A)
c.2495G>A (p.Ser832Asn)
c.2372G>A (p.Ser791Asn)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
21g.46549872G>CCA410584025DIP2Ac.2624G>C (p.Ser875Thr)
c.2612G>C (p.Ser871Thr)
c.2732G>C (p.Ser911Thr)
c.2729G>C (p.Ser910Thr)
c.2627G>C (p.Ser876Thr)
c.2600G>C (p.Ser867Thr)
c.2477G>C (p.Ser826Thr)
c.*82G>C (n.*82G>C)
c.2495G>C (p.Ser832Thr)
c.2372G>C (p.Ser791Thr)
 dbSNP gnomAD v3 gnomAD v4
21g.46549872G=CA2392733496DIP2Ac.2624G= (p.Ser875=)
c.2612G= (p.Ser871=)
c.2732G= (p.Ser911=)
c.2729G= (p.Ser910=)
c.2627G= (p.Ser876=)
c.2600G= (p.Ser867=)
c.2477G= (p.Ser826=)
c.*82G= (n.*82G=)
c.2495G= (p.Ser832=)
c.2372G= (p.Ser791=)
21g.46549872G>TCA410584026DIP2Ac.2624G>T (p.Ser875Ile)
c.2612G>T (p.Ser871Ile)
c.2732G>T (p.Ser911Ile)
c.2729G>T (p.Ser910Ile)
c.2627G>T (p.Ser876Ile)
c.2600G>T (p.Ser867Ile)
c.2477G>T (p.Ser826Ile)
c.*82G>T (n.*82G>T)
c.2495G>T (p.Ser832Ile)
c.2372G>T (p.Ser791Ile)
21g.46549873C>ACA410584027DIP2Ac.2625C>A (p.Ser875Arg)
c.2613C>A (p.Ser871Arg)
c.2733C>A (p.Ser911Arg)
c.2730C>A (p.Ser910Arg)
c.2628C>A (p.Ser876Arg)
c.2601C>A (p.Ser867Arg)
c.2478C>A (p.Ser826Arg)
c.*83C>A (n.*83C>A)
c.2496C>A (p.Ser832Arg)
c.2373C>A (p.Ser791Arg)
21g.46549873C>GCA410584028DIP2Ac.2625C>G (p.Ser875Arg)
c.2613C>G (p.Ser871Arg)
c.2733C>G (p.Ser911Arg)
c.2730C>G (p.Ser910Arg)
c.2628C>G (p.Ser876Arg)
c.2601C>G (p.Ser867Arg)
c.2478C>G (p.Ser826Arg)
c.*83C>G (n.*83C>G)
c.2496C>G (p.Ser832Arg)
c.2373C>G (p.Ser791Arg)
21g.46549873C>TCA512744329DIP2Ac.2625C>T (p.Ser875=)
c.2613C>T (p.Ser871=)
c.2733C>T (p.Ser911=)
c.2730C>T (p.Ser910=)
c.2628C>T (p.Ser876=)
c.2601C>T (p.Ser867=)
c.2478C>T (p.Ser826=)
c.*83C>T (n.*83C>T)
c.2496C>T (p.Ser832=)
c.2373C>T (p.Ser791=)
21g.46549874C>ACA410584029DIP2Ac.2626C>A (p.Arg876Ser)
c.2614C>A (p.Arg872Ser)
c.2734C>A (p.Arg912Ser)
c.2731C>A (p.Arg911Ser)
c.2629C>A (p.Arg877Ser)
c.2602C>A (p.Arg868Ser)
c.2479C>A (p.Arg827Ser)
c.*84C>A (n.*84C>A)
c.2497C>A (p.Arg833Ser)
c.2374C>A (p.Arg792Ser)
21g.46549874C=CA2392733497DIP2Ac.2626C= (p.Arg876=)
c.2614C= (p.Arg872=)
c.2734C= (p.Arg912=)
c.2731C= (p.Arg911=)
c.2629C= (p.Arg877=)
c.2602C= (p.Arg868=)
c.2479C= (p.Arg827=)
c.*84C= (n.*84C=)
c.2497C= (p.Arg833=)
c.2374C= (p.Arg792=)
21g.46549874C>GCA410584030DIP2Ac.2626C>G (p.Arg876Gly)
c.2614C>G (p.Arg872Gly)
c.2734C>G (p.Arg912Gly)
c.2731C>G (p.Arg911Gly)
c.2629C>G (p.Arg877Gly)
c.2602C>G (p.Arg868Gly)
c.2479C>G (p.Arg827Gly)
c.*84C>G (n.*84C>G)
c.2497C>G (p.Arg833Gly)
c.2374C>G (p.Arg792Gly)
21g.46549874C>TCA10082483DIP2Ac.2626C>T (p.Arg876Cys)
c.2614C>T (p.Arg872Cys)
c.2734C>T (p.Arg912Cys)
c.2731C>T (p.Arg911Cys)
c.2629C>T (p.Arg877Cys)
c.2602C>T (p.Arg868Cys)
c.2479C>T (p.Arg827Cys)
c.*84C>T (n.*84C>T)
c.2497C>T (p.Arg833Cys)
c.2374C>T (p.Arg792Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549875G>ACA10082484DIP2Ac.2627G>A (p.Arg876His)
c.2615G>A (p.Arg872His)
c.2735G>A (p.Arg912His)
c.2732G>A (p.Arg911His)
c.2630G>A (p.Arg877His)
c.2603G>A (p.Arg868His)
c.2480G>A (p.Arg827His)
c.*85G>A (n.*85G>A)
c.2498G>A (p.Arg833His)
c.2375G>A (p.Arg792His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549875G>CCA410584032DIP2Ac.2627G>C (p.Arg876Pro)
c.2615G>C (p.Arg872Pro)
c.2735G>C (p.Arg912Pro)
c.2732G>C (p.Arg911Pro)
c.2630G>C (p.Arg877Pro)
c.2603G>C (p.Arg868Pro)
c.2480G>C (p.Arg827Pro)
c.*85G>C (n.*85G>C)
c.2498G>C (p.Arg833Pro)
c.2375G>C (p.Arg792Pro)
21g.46549875G=CA2392733498DIP2Ac.2627G= (p.Arg876=)
c.2615G= (p.Arg872=)
c.2735G= (p.Arg912=)
c.2732G= (p.Arg911=)
c.2630G= (p.Arg877=)
c.2603G= (p.Arg868=)
c.2480G= (p.Arg827=)
c.*85G= (n.*85G=)
c.2498G= (p.Arg833=)
c.2375G= (p.Arg792=)
21g.46549875G>TCA410584031DIP2Ac.2627G>T (p.Arg876Leu)
c.2615G>T (p.Arg872Leu)
c.2735G>T (p.Arg912Leu)
c.2732G>T (p.Arg911Leu)
c.2630G>T (p.Arg877Leu)
c.2603G>T (p.Arg868Leu)
c.2480G>T (p.Arg827Leu)
c.*85G>T (n.*85G>T)
c.2498G>T (p.Arg833Leu)
c.2375G>T (p.Arg792Leu)
 dbSNP gnomAD v2 gnomAD v4
21g.46549876T>ACA512744360DIP2Ac.2628T>A (p.Arg876=)
c.2616T>A (p.Arg872=)
c.2736T>A (p.Arg912=)
c.2733T>A (p.Arg911=)
c.2631T>A (p.Arg877=)
c.2604T>A (p.Arg868=)
c.2481T>A (p.Arg827=)
c.*86T>A (n.*86T>A)
c.2499T>A (p.Arg833=)
c.2376T>A (p.Arg792=)
21g.46549876T>CCA512744358DIP2Ac.2628T>C (p.Arg876=)
c.2616T>C (p.Arg872=)
c.2736T>C (p.Arg912=)
c.2733T>C (p.Arg911=)
c.2631T>C (p.Arg877=)
c.2604T>C (p.Arg868=)
c.2481T>C (p.Arg827=)
c.*86T>C (n.*86T>C)
c.2499T>C (p.Arg833=)
c.2376T>C (p.Arg792=)
21g.46549876T>GCA512744355DIP2Ac.2628T>G (p.Arg876=)
c.2616T>G (p.Arg872=)
c.2736T>G (p.Arg912=)
c.2733T>G (p.Arg911=)
c.2631T>G (p.Arg877=)
c.2604T>G (p.Arg868=)
c.2481T>G (p.Arg827=)
c.*86T>G (n.*86T>G)
c.2499T>G (p.Arg833=)
c.2376T>G (p.Arg792=)
21g.46549877G>ACA410584033DIP2Ac.2629G>A (p.Val877Met)
c.2617G>A (p.Val873Met)
c.2737G>A (p.Val913Met)
c.2734G>A (p.Val912Met)
c.2632G>A (p.Val878Met)
c.2605G>A (p.Val869Met)
c.2482G>A (p.Val828Met)
c.*87G>A (n.*87G>A)
c.2500G>A (p.Val834Met)
c.2377G>A (p.Val793Met)
21g.46549877G>CCA410584035DIP2Ac.2629G>C (p.Val877Leu)
c.2617G>C (p.Val873Leu)
c.2737G>C (p.Val913Leu)
c.2734G>C (p.Val912Leu)
c.2632G>C (p.Val878Leu)
c.2605G>C (p.Val869Leu)
c.2482G>C (p.Val828Leu)
c.*87G>C (n.*87G>C)
c.2500G>C (p.Val834Leu)
c.2377G>C (p.Val793Leu)
21g.46549877G>TCA410584034DIP2Ac.2629G>T (p.Val877Leu)
c.2617G>T (p.Val873Leu)
c.2737G>T (p.Val913Leu)
c.2734G>T (p.Val912Leu)
c.2632G>T (p.Val878Leu)
c.2605G>T (p.Val869Leu)
c.2482G>T (p.Val828Leu)
c.*87G>T (n.*87G>T)
c.2500G>T (p.Val834Leu)
c.2377G>T (p.Val793Leu)
 gnomAD v4
21g.46549878T>ACA410584036DIP2Ac.2630T>A (p.Val877Glu)
c.2618T>A (p.Val873Glu)
c.2738T>A (p.Val913Glu)
c.2735T>A (p.Val912Glu)
c.2633T>A (p.Val878Glu)
c.2606T>A (p.Val869Glu)
c.2483T>A (p.Val828Glu)
c.*88T>A (n.*88T>A)
c.2501T>A (p.Val834Glu)
c.2378T>A (p.Val793Glu)
21g.46549878T>CCA410584037DIP2Ac.2630T>C (p.Val877Ala)
c.2618T>C (p.Val873Ala)
c.2738T>C (p.Val913Ala)
c.2735T>C (p.Val912Ala)
c.2633T>C (p.Val878Ala)
c.2606T>C (p.Val869Ala)
c.2483T>C (p.Val828Ala)
c.*88T>C (n.*88T>C)
c.2501T>C (p.Val834Ala)
c.2378T>C (p.Val793Ala)
21g.46549878T>GCA410584038DIP2Ac.2630T>G (p.Val877Gly)
c.2618T>G (p.Val873Gly)
c.2738T>G (p.Val913Gly)
c.2735T>G (p.Val912Gly)
c.2633T>G (p.Val878Gly)
c.2606T>G (p.Val869Gly)
c.2483T>G (p.Val828Gly)
c.*88T>G (n.*88T>G)
c.2501T>G (p.Val834Gly)
c.2378T>G (p.Val793Gly)
21g.46549879G>ACA512744380DIP2Ac.2631G>A (p.Val877=)
c.2619G>A (p.Val873=)
c.2739G>A (p.Val913=)
c.2736G>A (p.Val912=)
c.2634G>A (p.Val878=)
c.2607G>A (p.Val869=)
c.2484G>A (p.Val828=)
c.*89G>A (n.*89G>A)
c.2502G>A (p.Val834=)
c.2379G>A (p.Val793=)
21g.46549879G>CCA512744378DIP2Ac.2631G>C (p.Val877=)
c.2619G>C (p.Val873=)
c.2739G>C (p.Val913=)
c.2736G>C (p.Val912=)
c.2634G>C (p.Val878=)
c.2607G>C (p.Val869=)
c.2484G>C (p.Val828=)
c.*89G>C (n.*89G>C)
c.2502G>C (p.Val834=)
c.2379G>C (p.Val793=)
 gnomAD v4
21g.46549879G>TCA512744374DIP2Ac.2631G>T (p.Val877=)
c.2619G>T (p.Val873=)
c.2739G>T (p.Val913=)
c.2736G>T (p.Val912=)
c.2634G>T (p.Val878=)
c.2607G>T (p.Val869=)
c.2484G>T (p.Val828=)
c.*89G>T (n.*89G>T)
c.2502G>T (p.Val834=)
c.2379G>T (p.Val793=)
21g.46549880C>ACA410584039DIP2Ac.2632C>A (p.Leu878Met)
c.2620C>A (p.Leu874Met)
c.2740C>A (p.Leu914Met)
c.2737C>A (p.Leu913Met)
c.2635C>A (p.Leu879Met)
c.2608C>A (p.Leu870Met)
c.2485C>A (p.Leu829Met)
c.*90C>A (n.*90C>A)
c.2503C>A (p.Leu835Met)
c.2380C>A (p.Leu794Met)
21g.46549880C=CA2392733499DIP2Ac.2632C= (p.Leu878=)
c.2620C= (p.Leu874=)
c.2740C= (p.Leu914=)
c.2737C= (p.Leu913=)
c.2635C= (p.Leu879=)
c.2608C= (p.Leu870=)
c.2485C= (p.Leu829=)
c.*90C= (n.*90C=)
c.2503C= (p.Leu835=)
c.2380C= (p.Leu794=)
21g.46549880C>GCA410584040DIP2Ac.2632C>G (p.Leu878Val)
c.2620C>G (p.Leu874Val)
c.2740C>G (p.Leu914Val)
c.2737C>G (p.Leu913Val)
c.2635C>G (p.Leu879Val)
c.2608C>G (p.Leu870Val)
c.2485C>G (p.Leu829Val)
c.*90C>G (n.*90C>G)
c.2503C>G (p.Leu835Val)
c.2380C>G (p.Leu794Val)
21g.46549880C>TCA10082485DIP2Ac.2632C>T (p.Leu878=)
c.2620C>T (p.Leu874=)
c.2740C>T (p.Leu914=)
c.2737C>T (p.Leu913=)
c.2635C>T (p.Leu879=)
c.2608C>T (p.Leu870=)
c.2485C>T (p.Leu829=)
c.*90C>T (n.*90C>T)
c.2503C>T (p.Leu835=)
c.2380C>T (p.Leu794=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549881T>ACA410584041DIP2Ac.2633T>A (p.Leu878Gln)
c.2621T>A (p.Leu874Gln)
c.2741T>A (p.Leu914Gln)
c.2738T>A (p.Leu913Gln)
c.2636T>A (p.Leu879Gln)
c.2609T>A (p.Leu870Gln)
c.2486T>A (p.Leu829Gln)
c.*91T>A (n.*91T>A)
c.2504T>A (p.Leu835Gln)
c.2381T>A (p.Leu794Gln)
21g.46549881T>CCA410584042DIP2Ac.2633T>C (p.Leu878Pro)
c.2621T>C (p.Leu874Pro)
c.2741T>C (p.Leu914Pro)
c.2738T>C (p.Leu913Pro)
c.2636T>C (p.Leu879Pro)
c.2609T>C (p.Leu870Pro)
c.2486T>C (p.Leu829Pro)
c.*91T>C (n.*91T>C)
c.2504T>C (p.Leu835Pro)
c.2381T>C (p.Leu794Pro)
21g.46549881T>GCA410584043DIP2Ac.2633T>G (p.Leu878Arg)
c.2621T>G (p.Leu874Arg)
c.2741T>G (p.Leu914Arg)
c.2738T>G (p.Leu913Arg)
c.2636T>G (p.Leu879Arg)
c.2609T>G (p.Leu870Arg)
c.2486T>G (p.Leu829Arg)
c.*91T>G (n.*91T>G)
c.2504T>G (p.Leu835Arg)
c.2381T>G (p.Leu794Arg)
21g.46549882G>ACA10082486DIP2Ac.2634G>A (p.Leu878=)
c.2622G>A (p.Leu874=)
c.2742G>A (p.Leu914=)
c.2739G>A (p.Leu913=)
c.2637G>A (p.Leu879=)
c.2610G>A (p.Leu870=)
c.2487G>A (p.Leu829=)
c.*92G>A (n.*92G>A)
c.2505G>A (p.Leu835=)
c.2382G>A (p.Leu794=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549882G>CCA512744401DIP2Ac.2634G>C (p.Leu878=)
c.2622G>C (p.Leu874=)
c.2742G>C (p.Leu914=)
c.2739G>C (p.Leu913=)
c.2637G>C (p.Leu879=)
c.2610G>C (p.Leu870=)
c.2487G>C (p.Leu829=)
c.*92G>C (n.*92G>C)
c.2505G>C (p.Leu835=)
c.2382G>C (p.Leu794=)
21g.46549882G=CA2392733500DIP2Ac.2634G= (p.Leu878=)
c.2622G= (p.Leu874=)
c.2742G= (p.Leu914=)
c.2739G= (p.Leu913=)
c.2637G= (p.Leu879=)
c.2610G= (p.Leu870=)
c.2487G= (p.Leu829=)
c.*92G= (n.*92G=)
c.2505G= (p.Leu835=)
c.2382G= (p.Leu794=)
21g.46549882G>TCA512744398DIP2Ac.2634G>T (p.Leu878=)
c.2622G>T (p.Leu874=)
c.2742G>T (p.Leu914=)
c.2739G>T (p.Leu913=)
c.2637G>T (p.Leu879=)
c.2610G>T (p.Leu870=)
c.2487G>T (p.Leu829=)
c.*92G>T (n.*92G>T)
c.2505G>T (p.Leu835=)
c.2382G>T (p.Leu794=)
 gnomAD v4
21g.46549883C>ACA410584046DIP2Ac.2635C>A (p.Gln879Lys)
c.2623C>A (p.Gln875Lys)
c.2743C>A (p.Gln915Lys)
c.2740C>A (p.Gln914Lys)
c.2638C>A (p.Gln880Lys)
c.2611C>A (p.Gln871Lys)
c.2488C>A (p.Gln830Lys)
c.*93C>A (n.*93C>A)
c.2506C>A (p.Gln836Lys)
c.2383C>A (p.Gln795Lys)
 gnomAD v4
21g.46549883C>GCA410584045DIP2Ac.2635C>G (p.Gln879Glu)
c.2623C>G (p.Gln875Glu)
c.2743C>G (p.Gln915Glu)
c.2740C>G (p.Gln914Glu)
c.2638C>G (p.Gln880Glu)
c.2611C>G (p.Gln871Glu)
c.2488C>G (p.Gln830Glu)
c.*93C>G (n.*93C>G)
c.2506C>G (p.Gln836Glu)
c.2383C>G (p.Gln795Glu)
21g.46549883C>TCA410584044DIP2Ac.2635C>T (p.Gln879Ter)
c.2623C>T (p.Gln875Ter)
c.2743C>T (p.Gln915Ter)
c.2740C>T (p.Gln914Ter)
c.2638C>T (p.Gln880Ter)
c.2611C>T (p.Gln871Ter)
c.2488C>T (p.Gln830Ter)
c.*93C>T (n.*93C>T)
c.2506C>T (p.Gln836Ter)
c.2383C>T (p.Gln795Ter)
 gnomAD v4
21g.46549884A=CA2392733501DIP2Ac.2636A= (p.Gln879=)
c.2624A= (p.Gln875=)
c.2744A= (p.Gln915=)
c.2741A= (p.Gln914=)
c.2639A= (p.Gln880=)
c.2612A= (p.Gln871=)
c.2489A= (p.Gln830=)
c.*94A= (n.*94A=)
c.2507A= (p.Gln836=)
c.2384A= (p.Gln795=)
21g.46549884A>CCA410584047DIP2Ac.2636A>C (p.Gln879Pro)
c.2624A>C (p.Gln875Pro)
c.2744A>C (p.Gln915Pro)
c.2741A>C (p.Gln914Pro)
c.2639A>C (p.Gln880Pro)
c.2612A>C (p.Gln871Pro)
c.2489A>C (p.Gln830Pro)
c.*94A>C (n.*94A>C)
c.2507A>C (p.Gln836Pro)
c.2384A>C (p.Gln795Pro)
 dbSNP gnomAD v3 gnomAD v4
21g.46549884A>GCA410584048DIP2Ac.2636A>G (p.Gln879Arg)
c.2624A>G (p.Gln875Arg)
c.2744A>G (p.Gln915Arg)
c.2741A>G (p.Gln914Arg)
c.2639A>G (p.Gln880Arg)
c.2612A>G (p.Gln871Arg)
c.2489A>G (p.Gln830Arg)
c.*94A>G (n.*94A>G)
c.2507A>G (p.Gln836Arg)
c.2384A>G (p.Gln795Arg)
21g.46549884A>TCA410584049DIP2Ac.2636A>T (p.Gln879Leu)
c.2624A>T (p.Gln875Leu)
c.2744A>T (p.Gln915Leu)
c.2741A>T (p.Gln914Leu)
c.2639A>T (p.Gln880Leu)
c.2612A>T (p.Gln871Leu)
c.2489A>T (p.Gln830Leu)
c.*94A>T (n.*94A>T)
c.2507A>T (p.Gln836Leu)
c.2384A>T (p.Gln795Leu)
21g.46549885G>ACA512744421DIP2Ac.2637G>A (p.Gln879=)
c.2625G>A (p.Gln875=)
c.2745G>A (p.Gln915=)
c.2742G>A (p.Gln914=)
c.2640G>A (p.Gln880=)
c.2613G>A (p.Gln871=)
c.2490G>A (p.Gln830=)
c.*95G>A (n.*95G>A)
c.2508G>A (p.Gln836=)
c.2385G>A (p.Gln795=)
21g.46549885G>CCA410584050DIP2Ac.2637G>C (p.Gln879His)
c.2625G>C (p.Gln875His)
c.2745G>C (p.Gln915His)
c.2742G>C (p.Gln914His)
c.2640G>C (p.Gln880His)
c.2613G>C (p.Gln871His)
c.2490G>C (p.Gln830His)
c.*95G>C (n.*95G>C)
c.2508G>C (p.Gln836His)
c.2385G>C (p.Gln795His)
21g.46549885G>TCA410584051DIP2Ac.2637G>T (p.Gln879His)
c.2625G>T (p.Gln875His)
c.2745G>T (p.Gln915His)
c.2742G>T (p.Gln914His)
c.2640G>T (p.Gln880His)
c.2613G>T (p.Gln871His)
c.2490G>T (p.Gln830His)
c.*95G>T (n.*95G>T)
c.2508G>T (p.Gln836His)
c.2385G>T (p.Gln795His)
 gnomAD v4
21g.46549886G>ACA410584052DIP2Ac.2637+1G>A (n.2637+1G>A)
c.2625+1G>A (n.2625+1G>A)
c.2638G>A (p.Val880Met)
c.2745+1G>A (n.2745+1G>A)
c.2742+1G>A (n.2742+1G>A)
c.2640+1G>A (n.2640+1G>A)
c.2613+1G>A (n.2613+1G>A)
c.2490+1G>A (n.2490+1G>A)
c.*96G>A (n.*96G>A)
c.2508+1G>A (n.2508+1G>A)
c.2385+1G>A (n.2385+1G>A)
c.*95+1G>A (n.*95+1G>A)
21g.46549886G>CCA410584053DIP2Ac.2637+1G>C (n.2637+1G>C)
c.2625+1G>C (n.2625+1G>C)
c.2638G>C (p.Val880Leu)
c.2745+1G>C (n.2745+1G>C)
c.2742+1G>C (n.2742+1G>C)
c.2640+1G>C (n.2640+1G>C)
c.2613+1G>C (n.2613+1G>C)
c.2490+1G>C (n.2490+1G>C)
c.*96G>C (n.*96G>C)
c.2508+1G>C (n.2508+1G>C)
c.2385+1G>C (n.2385+1G>C)
c.*95+1G>C (n.*95+1G>C)
21g.46549886G>TCA410584054DIP2Ac.2637+1G>T (n.2637+1G>T)
c.2625+1G>T (n.2625+1G>T)
c.2638G>T (p.Val880Leu)
c.2745+1G>T (n.2745+1G>T)
c.2742+1G>T (n.2742+1G>T)
c.2640+1G>T (n.2640+1G>T)
c.2613+1G>T (n.2613+1G>T)
c.2490+1G>T (n.2490+1G>T)
c.*96G>T (n.*96G>T)
c.2508+1G>T (n.2508+1G>T)
c.2385+1G>T (n.2385+1G>T)
c.*95+1G>T (n.*95+1G>T)
21g.46549887T>ACA410584055DIP2Ac.2637+2T>A (n.2637+2T>A)
c.2625+2T>A (n.2625+2T>A)
c.2639T>A (p.Val880Glu)
c.2745+2T>A (n.2745+2T>A)
c.2742+2T>A (n.2742+2T>A)
c.2640+2T>A (n.2640+2T>A)
c.2613+2T>A (n.2613+2T>A)
c.2490+2T>A (n.2490+2T>A)
c.*97T>A (n.*97T>A)
c.2508+2T>A (n.2508+2T>A)
c.2385+2T>A (n.2385+2T>A)
c.*95+2T>A (n.*95+2T>A)
21g.46549887T>CCA410584056DIP2Ac.2637+2T>C (n.2637+2T>C)
c.2625+2T>C (n.2625+2T>C)
c.2639T>C (p.Val880Ala)
c.2745+2T>C (n.2745+2T>C)
c.2742+2T>C (n.2742+2T>C)
c.2640+2T>C (n.2640+2T>C)
c.2613+2T>C (n.2613+2T>C)
c.2490+2T>C (n.2490+2T>C)
c.*97T>C (n.*97T>C)
c.2508+2T>C (n.2508+2T>C)
c.2385+2T>C (n.2385+2T>C)
c.*95+2T>C (n.*95+2T>C)
21g.46549887T>GCA410584057DIP2Ac.2637+2T>G (n.2637+2T>G)
c.2625+2T>G (n.2625+2T>G)
c.2639T>G (p.Val880Gly)
c.2745+2T>G (n.2745+2T>G)
c.2742+2T>G (n.2742+2T>G)
c.2640+2T>G (n.2640+2T>G)
c.2613+2T>G (n.2613+2T>G)
c.2490+2T>G (n.2490+2T>G)
c.*97T>G (n.*97T>G)
c.2508+2T>G (n.2508+2T>G)
c.2385+2T>G (n.2385+2T>G)
c.*95+2T>G (n.*95+2T>G)
21g.46549888G>CCA658794801DIP2Ac.2637+3G>C (n.2637+3G>C)
c.2625+3G>C (n.2625+3G>C)
c.2640G>C (p.Val880=)
c.2745+3G>C (n.2745+3G>C)
c.2742+3G>C (n.2742+3G>C)
c.2640+3G>C (n.2640+3G>C)
c.2613+3G>C (n.2613+3G>C)
c.2490+3G>C (n.2490+3G>C)
c.*98G>C (n.*98G>C)
c.2508+3G>C (n.2508+3G>C)
c.2385+3G>C (n.2385+3G>C)
c.*95+3G>C (n.*95+3G>C)
21g.46549889G>ACA410584059DIP2Ac.2637+4G>A (n.2637+4G>A)
c.2625+4G>A (n.2625+4G>A)
c.2641G>A (p.Gly881Ser)
c.2745+4G>A (n.2745+4G>A)
c.2742+4G>A (n.2742+4G>A)
c.2640+4G>A (n.2640+4G>A)
c.2613+4G>A (n.2613+4G>A)
c.2490+4G>A (n.2490+4G>A)
c.*99G>A (n.*99G>A)
c.2508+4G>A (n.2508+4G>A)
c.2385+4G>A (n.2385+4G>A)
c.*95+4G>A (n.*95+4G>A)
 gnomAD v4
21g.46549889G>CCA410584060DIP2Ac.2637+4G>C (n.2637+4G>C)
c.2625+4G>C (n.2625+4G>C)
c.2641G>C (p.Gly881Arg)
c.2745+4G>C (n.2745+4G>C)
c.2742+4G>C (n.2742+4G>C)
c.2640+4G>C (n.2640+4G>C)
c.2613+4G>C (n.2613+4G>C)
c.2490+4G>C (n.2490+4G>C)
c.*99G>C (n.*99G>C)
c.2508+4G>C (n.2508+4G>C)
c.2385+4G>C (n.2385+4G>C)
c.*95+4G>C (n.*95+4G>C)
21g.46549889G>TCA410584058DIP2Ac.2637+4G>T (n.2637+4G>T)
c.2625+4G>T (n.2625+4G>T)
c.2641G>T (p.Gly881Cys)
c.2745+4G>T (n.2745+4G>T)
c.2742+4G>T (n.2742+4G>T)
c.2640+4G>T (n.2640+4G>T)
c.2613+4G>T (n.2613+4G>T)
c.2490+4G>T (n.2490+4G>T)
c.*99G>T (n.*99G>T)
c.2508+4G>T (n.2508+4G>T)
c.2385+4G>T (n.2385+4G>T)
c.*95+4G>T (n.*95+4G>T)
21g.46549890G>ACA410584061DIP2Ac.2637+5G>A (n.2637+5G>A)
c.2625+5G>A (n.2625+5G>A)
c.2642G>A (p.Gly881Asp)
c.2745+5G>A (n.2745+5G>A)
c.2742+5G>A (n.2742+5G>A)
c.2640+5G>A (n.2640+5G>A)
c.2613+5G>A (n.2613+5G>A)
c.2490+5G>A (n.2490+5G>A)
c.*100G>A (n.*100G>A)
c.2508+5G>A (n.2508+5G>A)
c.2385+5G>A (n.2385+5G>A)
c.*95+5G>A (n.*95+5G>A)
21g.46549890G>CCA410584062DIP2Ac.2637+5G>C (n.2637+5G>C)
c.2625+5G>C (n.2625+5G>C)
c.2642G>C (p.Gly881Ala)
c.2745+5G>C (n.2745+5G>C)
c.2742+5G>C (n.2742+5G>C)
c.2640+5G>C (n.2640+5G>C)
c.2613+5G>C (n.2613+5G>C)
c.2490+5G>C (n.2490+5G>C)
c.*100G>C (n.*100G>C)
c.2508+5G>C (n.2508+5G>C)
c.2385+5G>C (n.2385+5G>C)
c.*95+5G>C (n.*95+5G>C)
21g.46549890G>TCA410584063DIP2Ac.2637+5G>T (n.2637+5G>T)
c.2625+5G>T (n.2625+5G>T)
c.2642G>T (p.Gly881Val)
c.2745+5G>T (n.2745+5G>T)
c.2742+5G>T (n.2742+5G>T)
c.2640+5G>T (n.2640+5G>T)
c.2613+5G>T (n.2613+5G>T)
c.2490+5G>T (n.2490+5G>T)
c.*100G>T (n.*100G>T)
c.2508+5G>T (n.2508+5G>T)
c.2385+5G>T (n.2385+5G>T)
c.*95+5G>T (n.*95+5G>T)
 gnomAD v4
21g.46549891C>ACA2655037571DIP2Ac.2637+6C>A (n.2637+6C>A)
c.2625+6C>A (n.2625+6C>A)
c.2643C>A (p.Gly881=)
c.2745+6C>A (n.2745+6C>A)
c.2742+6C>A (n.2742+6C>A)
c.2640+6C>A (n.2640+6C>A)
c.2613+6C>A (n.2613+6C>A)
c.2490+6C>A (n.2490+6C>A)
c.*101C>A (n.*101C>A)
c.2508+6C>A (n.2508+6C>A)
c.2385+6C>A (n.2385+6C>A)
c.*95+6C>A (n.*95+6C>A)
 gnomAD v4
21g.46549891C=CA2392733502DIP2Ac.2637+6C= (n.2637+6C=)
c.2625+6C= (n.2625+6C=)
c.2643C= (p.Gly881=)
c.2745+6C= (n.2745+6C=)
c.2742+6C= (n.2742+6C=)
c.2640+6C= (n.2640+6C=)
c.2613+6C= (n.2613+6C=)
c.2490+6C= (n.2490+6C=)
c.*101C= (n.*101C=)
c.2508+6C= (n.2508+6C=)
c.2385+6C= (n.2385+6C=)
c.*95+6C= (n.*95+6C=)
21g.46549891C>TCA10082487DIP2Ac.2637+6C>T (n.2637+6C>T)
c.2625+6C>T (n.2625+6C>T)
c.2643C>T (p.Gly881=)
c.2745+6C>T (n.2745+6C>T)
c.2742+6C>T (n.2742+6C>T)
c.2640+6C>T (n.2640+6C>T)
c.2613+6C>T (n.2613+6C>T)
c.2490+6C>T (n.2490+6C>T)
c.*101C>T (n.*101C>T)
c.2508+6C>T (n.2508+6C>T)
c.2385+6C>T (n.2385+6C>T)
c.*95+6C>T (n.*95+6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
21g.46549892G>ACA410584064DIP2Ac.2637+7G>A (n.2637+7G>A)
c.2625+7G>A (n.2625+7G>A)
c.2644G>A (p.Ala882Thr)
c.2745+7G>A (n.2745+7G>A)
c.2742+7G>A (n.2742+7G>A)
c.2640+7G>A (n.2640+7G>A)
c.2613+7G>A (n.2613+7G>A)
c.2490+7G>A (n.2490+7G>A)
c.*102G>A (n.*102G>A)
c.2508+7G>A (n.2508+7G>A)
c.2385+7G>A (n.2385+7G>A)
c.*95+7G>A (n.*95+7G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46549892G>CCA410584065DIP2Ac.2637+7G>C (n.2637+7G>C)
c.2625+7G>C (n.2625+7G>C)
c.2644G>C (p.Ala882Pro)
c.2745+7G>C (n.2745+7G>C)
c.2742+7G>C (n.2742+7G>C)
c.2640+7G>C (n.2640+7G>C)
c.2613+7G>C (n.2613+7G>C)
c.2490+7G>C (n.2490+7G>C)
c.*102G>C (n.*102G>C)
c.2508+7G>C (n.2508+7G>C)
c.2385+7G>C (n.2385+7G>C)
c.*95+7G>C (n.*95+7G>C)
21g.46549892G=CA2392733504DIP2Ac.2637+7G= (n.2637+7G=)
c.2625+7G= (n.2625+7G=)
c.2644G= (p.Ala882=)
c.2745+7G= (n.2745+7G=)
c.2742+7G= (n.2742+7G=)
c.2640+7G= (n.2640+7G=)
c.2613+7G= (n.2613+7G=)
c.2490+7G= (n.2490+7G=)
c.*102G= (n.*102G=)
c.2508+7G= (n.2508+7G=)
c.2385+7G= (n.2385+7G=)
c.*95+7G= (n.*95+7G=)
21g.46549892G>TCA410584066DIP2Ac.2637+7G>T (n.2637+7G>T)
c.2625+7G>T (n.2625+7G>T)
c.2644G>T (p.Ala882Ser)
c.2745+7G>T (n.2745+7G>T)
c.2742+7G>T (n.2742+7G>T)
c.2640+7G>T (n.2640+7G>T)
c.2613+7G>T (n.2613+7G>T)
c.2490+7G>T (n.2490+7G>T)
c.*102G>T (n.*102G>T)
c.2508+7G>T (n.2508+7G>T)
c.2385+7G>T (n.2385+7G>T)
c.*95+7G>T (n.*95+7G>T)
21g.46549892_46549893delinsGCCA2392733503DIP2Ac.2637+7_2637+8delinsGC (n.2637+7_2637+8delinsGC)
c.2625+7_2625+8delinsGC (n.2625+7_2625+8delinsGC)
c.2644_2645delinsGC (p.Ala882=)
c.2745+7_2745+8delinsGC (n.2745+7_2745+8delinsGC)
c.2742+7_2742+8delinsGC (n.2742+7_2742+8delinsGC)
c.2640+7_2640+8delinsGC (n.2640+7_2640+8delinsGC)
c.2613+7_2613+8delinsGC (n.2613+7_2613+8delinsGC)
c.2490+7_2490+8delinsGC (n.2490+7_2490+8delinsGC)
c.*102_*103delinsGC (n.*102_*103delinsGC)
c.2508+7_2508+8delinsGC (n.2508+7_2508+8delinsGC)
c.2385+7_2385+8delinsGC (n.2385+7_2385+8delinsGC)
c.*95+7_*95+8delinsGC (n.*95+7_*95+8delinsGC)
21g.46549893C>ACA410584067DIP2Ac.2637+8C>A (n.2637+8C>A)
c.2625+8C>A (n.2625+8C>A)
c.2645C>A (p.Ala882Asp)
c.2745+8C>A (n.2745+8C>A)
c.2742+8C>A (n.2742+8C>A)
c.2640+8C>A (n.2640+8C>A)
c.2613+8C>A (n.2613+8C>A)
c.2490+8C>A (n.2490+8C>A)
c.*103C>A (n.*103C>A)
c.2508+8C>A (n.2508+8C>A)
c.2385+8C>A (n.2385+8C>A)
c.*95+8C>A (n.*95+8C>A)
21g.46549893C>GCA410584068DIP2Ac.2637+8C>G (n.2637+8C>G)
c.2625+8C>G (n.2625+8C>G)
c.2645C>G (p.Ala882Gly)
c.2745+8C>G (n.2745+8C>G)
c.2742+8C>G (n.2742+8C>G)
c.2640+8C>G (n.2640+8C>G)
c.2613+8C>G (n.2613+8C>G)
c.2490+8C>G (n.2490+8C>G)
c.*103C>G (n.*103C>G)
c.2508+8C>G (n.2508+8C>G)
c.2385+8C>G (n.2385+8C>G)
c.*95+8C>G (n.*95+8C>G)
21g.46549893C>TCA410584069DIP2Ac.2637+8C>T (n.2637+8C>T)
c.2625+8C>T (n.2625+8C>T)
c.2645C>T (p.Ala882Val)
c.2745+8C>T (n.2745+8C>T)
c.2742+8C>T (n.2742+8C>T)
c.2640+8C>T (n.2640+8C>T)
c.2613+8C>T (n.2613+8C>T)
c.2490+8C>T (n.2490+8C>T)
c.*103C>T (n.*103C>T)
c.2508+8C>T (n.2508+8C>T)
c.2385+8C>T (n.2385+8C>T)
c.*95+8C>T (n.*95+8C>T)
 COSMIC COSMIC COSMIC COSMIC
21g.46549896delCA10082488DIP2Ac.2637+11del (n.2637+11del)
c.2625+11del (n.2625+11del)
c.2648del (p.Pro883ArgfsTer?)
c.2745+11del (n.2745+11del)
c.2742+11del (n.2742+11del)
c.2640+11del (n.2640+11del)
c.2613+11del (n.2613+11del)
c.2490+11del (n.2490+11del)
c.*106del (n.*106del)
c.2508+11del (n.2508+11del)
c.2385+11del (n.2385+11del)
c.*95+11del (n.*95+11del)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46549894C=CA2392733505DIP2Ac.2637+9C= (n.2637+9C=)
c.2625+9C= (n.2625+9C=)
c.2646C= (p.Ala882=)
c.2745+9C= (n.2745+9C=)
c.2742+9C= (n.2742+9C=)
c.2640+9C= (n.2640+9C=)
c.2613+9C= (n.2613+9C=)
c.2490+9C= (n.2490+9C=)
c.*104C= (n.*104C=)
c.2508+9C= (n.2508+9C=)
c.2385+9C= (n.2385+9C=)
c.*95+9C= (n.*95+9C=)
21g.46549894C>TCA10082489DIP2Ac.2637+9C>T (n.2637+9C>T)
c.2625+9C>T (n.2625+9C>T)
c.2646C>T (p.Ala882=)
c.2745+9C>T (n.2745+9C>T)
c.2742+9C>T (n.2742+9C>T)
c.2640+9C>T (n.2640+9C>T)
c.2613+9C>T (n.2613+9C>T)
c.2490+9C>T (n.2490+9C>T)
c.*104C>T (n.*104C>T)
c.2508+9C>T (n.2508+9C>T)
c.2385+9C>T (n.2385+9C>T)
c.*95+9C>T (n.*95+9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549895C>ACA410584071DIP2Ac.2637+10C>A (n.2637+10C>A)
c.2625+10C>A (n.2625+10C>A)
c.2647C>A (p.Pro883Thr)
c.2745+10C>A (n.2745+10C>A)
c.2742+10C>A (n.2742+10C>A)
c.2640+10C>A (n.2640+10C>A)
c.2613+10C>A (n.2613+10C>A)
c.2490+10C>A (n.2490+10C>A)
c.*105C>A (n.*105C>A)
c.2508+10C>A (n.2508+10C>A)
c.2385+10C>A (n.2385+10C>A)
c.*95+10C>A (n.*95+10C>A)
 gnomAD v4
21g.46549895C=CA2392733506DIP2Ac.2637+10C= (n.2637+10C=)
c.2625+10C= (n.2625+10C=)
c.2647C= (p.Pro883=)
c.2745+10C= (n.2745+10C=)
c.2742+10C= (n.2742+10C=)
c.2640+10C= (n.2640+10C=)
c.2613+10C= (n.2613+10C=)
c.2490+10C= (n.2490+10C=)
c.*105C= (n.*105C=)
c.2508+10C= (n.2508+10C=)
c.2385+10C= (n.2385+10C=)
c.*95+10C= (n.*95+10C=)
21g.46549895C>GCA410584070DIP2Ac.2637+10C>G (n.2637+10C>G)
c.2625+10C>G (n.2625+10C>G)
c.2647C>G (p.Pro883Ala)
c.2745+10C>G (n.2745+10C>G)
c.2742+10C>G (n.2742+10C>G)
c.2640+10C>G (n.2640+10C>G)
c.2613+10C>G (n.2613+10C>G)
c.2490+10C>G (n.2490+10C>G)
c.*105C>G (n.*105C>G)
c.2508+10C>G (n.2508+10C>G)
c.2385+10C>G (n.2385+10C>G)
c.*95+10C>G (n.*95+10C>G)
21g.46549895C>TCA322006373DIP2Ac.2637+10C>T (n.2637+10C>T)
c.2625+10C>T (n.2625+10C>T)
c.2647C>T (p.Pro883Ser)
c.2745+10C>T (n.2745+10C>T)
c.2742+10C>T (n.2742+10C>T)
c.2640+10C>T (n.2640+10C>T)
c.2613+10C>T (n.2613+10C>T)
c.2490+10C>T (n.2490+10C>T)
c.*105C>T (n.*105C>T)
c.2508+10C>T (n.2508+10C>T)
c.2385+10C>T (n.2385+10C>T)
c.*95+10C>T (n.*95+10C>T)
 dbSNP gnomAD v4
21g.46549896C>ACA410584072DIP2Ac.2637+11C>A (n.2637+11C>A)
c.2625+11C>A (n.2625+11C>A)
c.2648C>A (p.Pro883Gln)
c.2745+11C>A (n.2745+11C>A)
c.2742+11C>A (n.2742+11C>A)
c.2640+11C>A (n.2640+11C>A)
c.2613+11C>A (n.2613+11C>A)
c.2490+11C>A (n.2490+11C>A)
c.*106C>A (n.*106C>A)
c.2508+11C>A (n.2508+11C>A)
c.2385+11C>A (n.2385+11C>A)
c.*95+11C>A (n.*95+11C>A)
 gnomAD v4
21g.46549896C=CA2392733507DIP2Ac.2637+11C= (n.2637+11C=)
c.2625+11C= (n.2625+11C=)
c.2648C= (p.Pro883=)
c.2745+11C= (n.2745+11C=)
c.2742+11C= (n.2742+11C=)
c.2640+11C= (n.2640+11C=)
c.2613+11C= (n.2613+11C=)
c.2490+11C= (n.2490+11C=)
c.*106C= (n.*106C=)
c.2508+11C= (n.2508+11C=)
c.2385+11C= (n.2385+11C=)
c.*95+11C= (n.*95+11C=)
21g.46549896C>GCA410584073DIP2Ac.2637+11C>G (n.2637+11C>G)
c.2625+11C>G (n.2625+11C>G)
c.2648C>G (p.Pro883Arg)
c.2745+11C>G (n.2745+11C>G)
c.2742+11C>G (n.2742+11C>G)
c.2640+11C>G (n.2640+11C>G)
c.2613+11C>G (n.2613+11C>G)
c.2490+11C>G (n.2490+11C>G)
c.*106C>G (n.*106C>G)
c.2508+11C>G (n.2508+11C>G)
c.2385+11C>G (n.2385+11C>G)
c.*95+11C>G (n.*95+11C>G)
 gnomAD v4
21g.46549896C>TCA10082490DIP2Ac.2637+11C>T (n.2637+11C>T)
c.2625+11C>T (n.2625+11C>T)
c.2648C>T (p.Pro883Leu)
c.2745+11C>T (n.2745+11C>T)
c.2742+11C>T (n.2742+11C>T)
c.2640+11C>T (n.2640+11C>T)
c.2613+11C>T (n.2613+11C>T)
c.2490+11C>T (n.2490+11C>T)
c.*106C>T (n.*106C>T)
c.2508+11C>T (n.2508+11C>T)
c.2385+11C>T (n.2385+11C>T)
c.*95+11C>T (n.*95+11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.46549897G>ACA10082491DIP2Ac.2637+12G>A (n.2637+12G>A)
c.2625+12G>A (n.2625+12G>A)
c.2649G>A (p.Pro883=)
c.2745+12G>A (n.2745+12G>A)
c.2742+12G>A (n.2742+12G>A)
c.2640+12G>A (n.2640+12G>A)
c.2613+12G>A (n.2613+12G>A)
c.2490+12G>A (n.2490+12G>A)
c.*107G>A (n.*107G>A)
c.2508+12G>A (n.2508+12G>A)
c.2385+12G>A (n.2385+12G>A)
c.*95+12G>A (n.*95+12G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549897G=CA2392733508DIP2Ac.2637+12G= (n.2637+12G=)
c.2625+12G= (n.2625+12G=)
c.2649G= (p.Pro883=)
c.2745+12G= (n.2745+12G=)
c.2742+12G= (n.2742+12G=)
c.2640+12G= (n.2640+12G=)
c.2613+12G= (n.2613+12G=)
c.2490+12G= (n.2490+12G=)
c.*107G= (n.*107G=)
c.2508+12G= (n.2508+12G=)
c.2385+12G= (n.2385+12G=)
c.*95+12G= (n.*95+12G=)
21g.46549897G>TCA2655037576DIP2Ac.2637+12G>T (n.2637+12G>T)
c.2625+12G>T (n.2625+12G>T)
c.2649G>T (p.Pro883=)
c.2745+12G>T (n.2745+12G>T)
c.2742+12G>T (n.2742+12G>T)
c.2640+12G>T (n.2640+12G>T)
c.2613+12G>T (n.2613+12G>T)
c.2490+12G>T (n.2490+12G>T)
c.*107G>T (n.*107G>T)
c.2508+12G>T (n.2508+12G>T)
c.2385+12G>T (n.2385+12G>T)
c.*95+12G>T (n.*95+12G>T)
 gnomAD v4
21g.46549898G>ACA410584074DIP2Ac.2637+13G>A (n.2637+13G>A)
c.2625+13G>A (n.2625+13G>A)
c.2650G>A (p.Ala884Thr)
c.2745+13G>A (n.2745+13G>A)
c.2742+13G>A (n.2742+13G>A)
c.2640+13G>A (n.2640+13G>A)
c.2613+13G>A (n.2613+13G>A)
c.2490+13G>A (n.2490+13G>A)
c.*108G>A (n.*108G>A)
c.2508+13G>A (n.2508+13G>A)
c.2385+13G>A (n.2385+13G>A)
c.*95+13G>A (n.*95+13G>A)
 gnomAD v4
21g.46549898G>CCA410584075DIP2Ac.2637+13G>C (n.2637+13G>C)
c.2625+13G>C (n.2625+13G>C)
c.2650G>C (p.Ala884Pro)
c.2745+13G>C (n.2745+13G>C)
c.2742+13G>C (n.2742+13G>C)
c.2640+13G>C (n.2640+13G>C)
c.2613+13G>C (n.2613+13G>C)
c.2490+13G>C (n.2490+13G>C)
c.*108G>C (n.*108G>C)
c.2508+13G>C (n.2508+13G>C)
c.2385+13G>C (n.2385+13G>C)
c.*95+13G>C (n.*95+13G>C)
 dbSNP
21g.46549898G=CA2392733509DIP2Ac.2637+13G= (n.2637+13G=)
c.2625+13G= (n.2625+13G=)
c.2650G= (p.Ala884=)
c.2745+13G= (n.2745+13G=)
c.2742+13G= (n.2742+13G=)
c.2640+13G= (n.2640+13G=)
c.2613+13G= (n.2613+13G=)
c.2490+13G= (n.2490+13G=)
c.*108G= (n.*108G=)
c.2508+13G= (n.2508+13G=)
c.2385+13G= (n.2385+13G=)
c.*95+13G= (n.*95+13G=)
21g.46549898G>TCA410584076DIP2Ac.2637+13G>T (n.2637+13G>T)
c.2625+13G>T (n.2625+13G>T)
c.2650G>T (p.Ala884Ser)
c.2745+13G>T (n.2745+13G>T)
c.2742+13G>T (n.2742+13G>T)
c.2640+13G>T (n.2640+13G>T)
c.2613+13G>T (n.2613+13G>T)
c.2490+13G>T (n.2490+13G>T)
c.*108G>T (n.*108G>T)
c.2508+13G>T (n.2508+13G>T)
c.2385+13G>T (n.2385+13G>T)
c.*95+13G>T (n.*95+13G>T)
 gnomAD v4
21g.46549899C>ACA410584077DIP2Ac.2637+14C>A (n.2637+14C>A)
c.2625+14C>A (n.2625+14C>A)
c.2651C>A (p.Ala884Glu)
c.2745+14C>A (n.2745+14C>A)
c.2742+14C>A (n.2742+14C>A)
c.2640+14C>A (n.2640+14C>A)
c.2613+14C>A (n.2613+14C>A)
c.2490+14C>A (n.2490+14C>A)
c.*109C>A (n.*109C>A)
c.2508+14C>A (n.2508+14C>A)
c.2385+14C>A (n.2385+14C>A)
c.*95+14C>A (n.*95+14C>A)
21g.46549899C>GCA410584078DIP2Ac.2637+14C>G (n.2637+14C>G)
c.2625+14C>G (n.2625+14C>G)
c.2651C>G (p.Ala884Gly)
c.2745+14C>G (n.2745+14C>G)
c.2742+14C>G (n.2742+14C>G)
c.2640+14C>G (n.2640+14C>G)
c.2613+14C>G (n.2613+14C>G)
c.2490+14C>G (n.2490+14C>G)
c.*109C>G (n.*109C>G)
c.2508+14C>G (n.2508+14C>G)
c.2385+14C>G (n.2385+14C>G)
c.*95+14C>G (n.*95+14C>G)
21g.46549899C>TCA410584079DIP2Ac.2637+14C>T (n.2637+14C>T)
c.2625+14C>T (n.2625+14C>T)
c.2651C>T (p.Ala884Val)
c.2745+14C>T (n.2745+14C>T)
c.2742+14C>T (n.2742+14C>T)
c.2640+14C>T (n.2640+14C>T)
c.2613+14C>T (n.2613+14C>T)
c.2490+14C>T (n.2490+14C>T)
c.*109C>T (n.*109C>T)
c.2508+14C>T (n.2508+14C>T)
c.2385+14C>T (n.2385+14C>T)
c.*95+14C>T (n.*95+14C>T)
 gnomAD v4
21g.46549900A=CA2392733510DIP2Ac.2637+15A= (n.2637+15A=)
c.2625+15A= (n.2625+15A=)
c.2652A= (p.Ala884=)
c.2745+15A= (n.2745+15A=)
c.2742+15A= (n.2742+15A=)
c.2640+15A= (n.2640+15A=)
c.2613+15A= (n.2613+15A=)
c.2490+15A= (n.2490+15A=)
c.*110A= (n.*110A=)
c.2508+15A= (n.2508+15A=)
c.2385+15A= (n.2385+15A=)
c.*95+15A= (n.*95+15A=)
21g.46549900A>CCA638210565DIP2Ac.2637+15A>C (n.2637+15A>C)
c.2625+15A>C (n.2625+15A>C)
c.2652A>C (p.Ala884=)
c.2745+15A>C (n.2745+15A>C)
c.2742+15A>C (n.2742+15A>C)
c.2640+15A>C (n.2640+15A>C)
c.2613+15A>C (n.2613+15A>C)
c.2490+15A>C (n.2490+15A>C)
c.*110A>C (n.*110A>C)
c.2508+15A>C (n.2508+15A>C)
c.2385+15A>C (n.2385+15A>C)
c.*95+15A>C (n.*95+15A>C)
 dbSNP gnomAD v2
21g.46549901C=CA2392733511DIP2Ac.2637+16C= (n.2637+16C=)
c.2625+16C= (n.2625+16C=)
c.2653C= (p.Arg885=)
c.2745+16C= (n.2745+16C=)
c.2742+16C= (n.2742+16C=)
c.2640+16C= (n.2640+16C=)
c.2613+16C= (n.2613+16C=)
c.2490+16C= (n.2490+16C=)
c.*111C= (n.*111C=)
c.2508+16C= (n.2508+16C=)
c.2385+16C= (n.2385+16C=)
c.*95+16C= (n.*95+16C=)
21g.46549901C>GCA410584080DIP2Ac.2637+16C>G (n.2637+16C>G)
c.2625+16C>G (n.2625+16C>G)
c.2653C>G (p.Arg885Gly)
c.2745+16C>G (n.2745+16C>G)
c.2742+16C>G (n.2742+16C>G)
c.2640+16C>G (n.2640+16C>G)
c.2613+16C>G (n.2613+16C>G)
c.2490+16C>G (n.2490+16C>G)
c.*111C>G (n.*111C>G)
c.2508+16C>G (n.2508+16C>G)
c.2385+16C>G (n.2385+16C>G)
c.*95+16C>G (n.*95+16C>G)
21g.46549901C>TCA10082492DIP2Ac.2637+16C>T (n.2637+16C>T)
c.2625+16C>T (n.2625+16C>T)
c.2653C>T (p.Arg885Trp)
c.2745+16C>T (n.2745+16C>T)
c.2742+16C>T (n.2742+16C>T)
c.2640+16C>T (n.2640+16C>T)
c.2613+16C>T (n.2613+16C>T)
c.2490+16C>T (n.2490+16C>T)
c.*111C>T (n.*111C>T)
c.2508+16C>T (n.2508+16C>T)
c.2385+16C>T (n.2385+16C>T)
c.*95+16C>T (n.*95+16C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549902G>ACA204197DIP2Ac.2637+17G>A (n.2637+17G>A)
c.2625+17G>A (n.2625+17G>A)
c.2654G>A (p.Arg885Gln)
c.2745+17G>A (n.2745+17G>A)
c.2742+17G>A (n.2742+17G>A)
c.2640+17G>A (n.2640+17G>A)
c.2613+17G>A (n.2613+17G>A)
c.2490+17G>A (n.2490+17G>A)
c.*112G>A (n.*112G>A)
c.2508+17G>A (n.2508+17G>A)
c.2385+17G>A (n.2385+17G>A)
c.*95+17G>A (n.*95+17G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46549902G>CCA410584082DIP2Ac.2637+17G>C (n.2637+17G>C)
c.2625+17G>C (n.2625+17G>C)
c.2654G>C (p.Arg885Pro)
c.2745+17G>C (n.2745+17G>C)
c.2742+17G>C (n.2742+17G>C)
c.2640+17G>C (n.2640+17G>C)
c.2613+17G>C (n.2613+17G>C)
c.2490+17G>C (n.2490+17G>C)
c.*112G>C (n.*112G>C)
c.2508+17G>C (n.2508+17G>C)
c.2385+17G>C (n.2385+17G>C)
c.*95+17G>C (n.*95+17G>C)
21g.46549902G=CA2392733512DIP2Ac.2637+17G= (n.2637+17G=)
c.2625+17G= (n.2625+17G=)
c.2654G= (p.Arg885=)
c.2745+17G= (n.2745+17G=)
c.2742+17G= (n.2742+17G=)
c.2640+17G= (n.2640+17G=)
c.2613+17G= (n.2613+17G=)
c.2490+17G= (n.2490+17G=)
c.*112G= (n.*112G=)
c.2508+17G= (n.2508+17G=)
c.2385+17G= (n.2385+17G=)
c.*95+17G= (n.*95+17G=)
21g.46549902G>TCA410584081DIP2Ac.2637+17G>T (n.2637+17G>T)
c.2625+17G>T (n.2625+17G>T)
c.2654G>T (p.Arg885Leu)
c.2745+17G>T (n.2745+17G>T)
c.2742+17G>T (n.2742+17G>T)
c.2640+17G>T (n.2640+17G>T)
c.2613+17G>T (n.2613+17G>T)
c.2490+17G>T (n.2490+17G>T)
c.*112G>T (n.*112G>T)
c.2508+17G>T (n.2508+17G>T)
c.2385+17G>T (n.2385+17G>T)
c.*95+17G>T (n.*95+17G>T)
 gnomAD v4

Number of alleles fetched