Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.745506_745509delinsACCTCA2242474276GEMIN4c.2534_2537delinsAGGT (p.Glu845=)
c.2501_2504delinsAGGT (p.Glu834=)
c.2546_2549delinsAGGT (p.Glu849=)
17g.745508delCA2242474278GEMIN4c.2536del (p.Val846SerfsTer30)
c.2503del (p.Val835SerfsTer30)
c.2548del (p.Val850SerfsTer30)
 dbSNP
17g.745511_745513delCA8262395GEMIN4c.2534_2536del (p.Glu845del)
c.2501_2503del (p.Glu834del)
c.2546_2548del (p.Glu849del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745508C>ACA397503553GEMIN4c.2535G>T (p.Glu845Asp)
c.2502G>T (p.Glu834Asp)
c.2547G>T (p.Glu849Asp)
17g.745508C=CA2242474280GEMIN4c.2535G= (p.Glu845=)
c.2502G= (p.Glu834=)
c.2547G= (p.Glu849=)
17g.745508C>GCA397503554GEMIN4c.2535G>C (p.Glu845Asp)
c.2502G>C (p.Glu834Asp)
c.2547G>C (p.Glu849Asp)
 dbSNP
17g.745508C>TCA497384090GEMIN4c.2535G>A (p.Glu845=)
c.2502G>A (p.Glu834=)
c.2547G>A (p.Glu849=)
 dbSNP gnomAD v4
17g.745509T>ACA397503556GEMIN4c.2534A>T (p.Glu845Val)
c.2501A>T (p.Glu834Val)
c.2546A>T (p.Glu849Val)
 dbSNP
17g.745509T>CCA397503558GEMIN4c.2534A>G (p.Glu845Gly)
c.2501A>G (p.Glu834Gly)
c.2546A>G (p.Glu849Gly)
 gnomAD v4
17g.745509T>GCA397503560GEMIN4c.2534A>C (p.Glu845Ala)
c.2501A>C (p.Glu834Ala)
c.2546A>C (p.Glu849Ala)
17g.745509T=CA2242474281GEMIN4c.2534A= (p.Glu845=)
c.2501A= (p.Glu834=)
c.2546A= (p.Glu849=)
17g.745510C>ACA397503561GEMIN4c.2533G>T (p.Glu845Ter)
c.2500G>T (p.Glu834Ter)
c.2545G>T (p.Glu849Ter)
 dbSNP gnomAD v4
17g.745510C=CA2242474282GEMIN4c.2533G= (p.Glu845=)
c.2500G= (p.Glu834=)
c.2545G= (p.Glu849=)
17g.745510C>GCA397503563GEMIN4c.2533G>C (p.Glu845Gln)
c.2500G>C (p.Glu834Gln)
c.2545G>C (p.Glu849Gln)
17g.745510C>TCA8262397GEMIN4c.2533G>A (p.Glu845Lys)
c.2500G>A (p.Glu834Lys)
c.2545G>A (p.Glu849Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745511C>ACA397503565GEMIN4c.2532G>T (p.Glu844Asp)
c.2499G>T (p.Glu833Asp)
c.2544G>T (p.Glu848Asp)
17g.745511C=CA2242474283GEMIN4c.2532G= (p.Glu844=)
c.2499G= (p.Glu833=)
c.2544G= (p.Glu848=)
17g.745511C>GCA397503566GEMIN4c.2532G>C (p.Glu844Asp)
c.2499G>C (p.Glu833Asp)
c.2544G>C (p.Glu848Asp)
 COSMIC COSMIC
17g.745511C>TCA8262398GEMIN4c.2532G>A (p.Glu844=)
c.2499G>A (p.Glu833=)
c.2544G>A (p.Glu848=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745512T>ACA8262399GEMIN4c.2531A>T (p.Glu844Val)
c.2498A>T (p.Glu833Val)
c.2543A>T (p.Glu848Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745512T>CCA397503567GEMIN4c.2531A>G (p.Glu844Gly)
c.2498A>G (p.Glu833Gly)
c.2543A>G (p.Glu848Gly)
17g.745512T>GCA397503568GEMIN4c.2531A>C (p.Glu844Ala)
c.2498A>C (p.Glu833Ala)
c.2543A>C (p.Glu848Ala)
17g.745512T=CA2242474284GEMIN4c.2531A= (p.Glu844=)
c.2498A= (p.Glu833=)
c.2543A= (p.Glu848=)
17g.745513C>ACA397503569GEMIN4c.2530G>T (p.Glu844Ter)
c.2497G>T (p.Glu833Ter)
c.2542G>T (p.Glu848Ter)
17g.745513C>GCA397503570GEMIN4c.2530G>C (p.Glu844Gln)
c.2497G>C (p.Glu833Gln)
c.2542G>C (p.Glu848Gln)
17g.745513C>TCA397503571GEMIN4c.2530G>A (p.Glu844Lys)
c.2497G>A (p.Glu833Lys)
c.2542G>A (p.Glu848Lys)
17g.745514A>CCA497384105GEMIN4c.2529T>G (p.Pro843=)
c.2496T>G (p.Pro832=)
c.2541T>G (p.Pro847=)
17g.745514A>GCA497384103GEMIN4c.2529T>C (p.Pro843=)
c.2496T>C (p.Pro832=)
c.2541T>C (p.Pro847=)
17g.745514A>TCA497384104GEMIN4c.2529T>A (p.Pro843=)
c.2496T>A (p.Pro832=)
c.2541T>A (p.Pro847=)
17g.745515G>ACA397503577GEMIN4c.2528C>T (p.Pro843Leu)
c.2495C>T (p.Pro832Leu)
c.2540C>T (p.Pro847Leu)
17g.745515G>CCA397503574GEMIN4c.2528C>G (p.Pro843Arg)
c.2495C>G (p.Pro832Arg)
c.2540C>G (p.Pro847Arg)
 dbSNP
17g.745515G=CA2242474285GEMIN4c.2528C= (p.Pro843=)
c.2495C= (p.Pro832=)
c.2540C= (p.Pro847=)
17g.745515G>TCA397503575GEMIN4c.2528C>A (p.Pro843His)
c.2495C>A (p.Pro832His)
c.2540C>A (p.Pro847His)
17g.745516G>ACA397503580GEMIN4c.2527C>T (p.Pro843Ser)
c.2494C>T (p.Pro832Ser)
c.2539C>T (p.Pro847Ser)
17g.745516G>CCA397503581GEMIN4c.2527C>G (p.Pro843Ala)
c.2494C>G (p.Pro832Ala)
c.2539C>G (p.Pro847Ala)
17g.745516G>TCA397503583GEMIN4c.2527C>A (p.Pro843Thr)
c.2494C>A (p.Pro832Thr)
c.2539C>A (p.Pro847Thr)
 gnomAD v4
17g.745517A=CA2242474286GEMIN4c.2526T= (p.Asn842=)
c.2493T= (p.Asn831=)
c.2538T= (p.Asn846=)
17g.745517A>CCA8262400GEMIN4c.2526T>G (p.Asn842Lys)
c.2493T>G (p.Asn831Lys)
c.2538T>G (p.Asn846Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745517A>GCA497384113GEMIN4c.2526T>C (p.Asn842=)
c.2493T>C (p.Asn831=)
c.2538T>C (p.Asn846=)
17g.745517A>TCA397503586GEMIN4c.2526T>A (p.Asn842Lys)
c.2493T>A (p.Asn831Lys)
c.2538T>A (p.Asn846Lys)
17g.745518T>ACA397503589GEMIN4c.2525A>T (p.Asn842Ile)
c.2492A>T (p.Asn831Ile)
c.2537A>T (p.Asn846Ile)
17g.745518T>CCA397503591GEMIN4c.2525A>G (p.Asn842Ser)
c.2492A>G (p.Asn831Ser)
c.2537A>G (p.Asn846Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745518T>GCA397503590GEMIN4c.2525A>C (p.Asn842Thr)
c.2492A>C (p.Asn831Thr)
c.2537A>C (p.Asn846Thr)
17g.745518T=CA2242474287GEMIN4c.2525A= (p.Asn842=)
c.2492A= (p.Asn831=)
c.2537A= (p.Asn846=)
17g.745519T>ACA397503593GEMIN4c.2524A>T (p.Asn842Tyr)
c.2491A>T (p.Asn831Tyr)
c.2536A>T (p.Asn846Tyr)
17g.745519T>CCA397503594GEMIN4c.2524A>G (p.Asn842Asp)
c.2491A>G (p.Asn831Asp)
c.2536A>G (p.Asn846Asp)
17g.745519T>GCA397503596GEMIN4c.2524A>C (p.Asn842His)
c.2491A>C (p.Asn831His)
c.2536A>C (p.Asn846His)
17g.745520G>ACA497384122GEMIN4c.2523C>T (p.Gly841=)
c.2490C>T (p.Gly830=)
c.2535C>T (p.Gly845=)
 dbSNP gnomAD v2 gnomAD v4
17g.745520G>CCA497384123GEMIN4c.2523C>G (p.Gly841=)
c.2490C>G (p.Gly830=)
c.2535C>G (p.Gly845=)
17g.745520G=CA2242474288GEMIN4c.2523C= (p.Gly841=)
c.2490C= (p.Gly830=)
c.2535C= (p.Gly845=)
17g.745520G>TCA497384125GEMIN4c.2523C>A (p.Gly841=)
c.2490C>A (p.Gly830=)
c.2535C>A (p.Gly845=)
 gnomAD v4
17g.745521C>ACA397503598GEMIN4c.2522G>T (p.Gly841Val)
c.2489G>T (p.Gly830Val)
c.2534G>T (p.Gly845Val)
17g.745521C>GCA397503600GEMIN4c.2522G>C (p.Gly841Ala)
c.2489G>C (p.Gly830Ala)
c.2534G>C (p.Gly845Ala)
17g.745521C>TCA397503602GEMIN4c.2522G>A (p.Gly841Asp)
c.2489G>A (p.Gly830Asp)
c.2534G>A (p.Gly845Asp)
17g.745522C>ACA397503604GEMIN4c.2521G>T (p.Gly841Cys)
c.2488G>T (p.Gly830Cys)
c.2533G>T (p.Gly845Cys)
17g.745522C>GCA397503605GEMIN4c.2521G>C (p.Gly841Arg)
c.2488G>C (p.Gly830Arg)
c.2533G>C (p.Gly845Arg)
17g.745522C>TCA397503607GEMIN4c.2521G>A (p.Gly841Ser)
c.2488G>A (p.Gly830Ser)
c.2533G>A (p.Gly845Ser)
17g.745523C>ACA497384132GEMIN4c.2520G>T (p.Val840=)
c.2487G>T (p.Val829=)
c.2532G>T (p.Val844=)
17g.745523C=CA2242474289GEMIN4c.2520G= (p.Val840=)
c.2487G= (p.Val829=)
c.2532G= (p.Val844=)
17g.745523C>GCA497384134GEMIN4c.2520G>C (p.Val840=)
c.2487G>C (p.Val829=)
c.2532G>C (p.Val844=)
 dbSNP
17g.745523C>TCA8262401GEMIN4c.2520G>A (p.Val840=)
c.2487G>A (p.Val829=)
c.2532G>A (p.Val844=)
 dbSNP ExAC gnomAD v2
17g.745524A>CCA397503611GEMIN4c.2519T>G (p.Val840Gly)
c.2486T>G (p.Val829Gly)
c.2531T>G (p.Val844Gly)
17g.745524A>GCA397503615GEMIN4c.2519T>C (p.Val840Ala)
c.2486T>C (p.Val829Ala)
c.2531T>C (p.Val844Ala)
17g.745524A>TCA397503613GEMIN4c.2519T>A (p.Val840Glu)
c.2486T>A (p.Val829Glu)
c.2531T>A (p.Val844Glu)
17g.745525C>ACA397503617GEMIN4c.2518G>T (p.Val840Leu)
c.2485G>T (p.Val829Leu)
c.2530G>T (p.Val844Leu)
17g.745525C=CA2242474290GEMIN4c.2518G= (p.Val840=)
c.2485G= (p.Val829=)
c.2530G= (p.Val844=)
17g.745525C>GCA397503620GEMIN4c.2518G>C (p.Val840Leu)
c.2485G>C (p.Val829Leu)
c.2530G>C (p.Val844Leu)
17g.745525C>TCA8262402GEMIN4c.2518G>A (p.Val840Met)
c.2485G>A (p.Val829Met)
c.2530G>A (p.Val844Met)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.745526G>ACA8262403GEMIN4c.2517C>T (p.Asp839=)
c.2484C>T (p.Asp828=)
c.2529C>T (p.Asp843=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745526G>CCA397503623GEMIN4c.2517C>G (p.Asp839Glu)
c.2484C>G (p.Asp828Glu)
c.2529C>G (p.Asp843Glu)
17g.745526G=CA2242474291GEMIN4c.2517C= (p.Asp839=)
c.2484C= (p.Asp828=)
c.2529C= (p.Asp843=)
17g.745526G>TCA397503624GEMIN4c.2517C>A (p.Asp839Glu)
c.2484C>A (p.Asp828Glu)
c.2529C>A (p.Asp843Glu)
17g.745527T>ACA397503626GEMIN4c.2516A>T (p.Asp839Val)
c.2483A>T (p.Asp828Val)
c.2528A>T (p.Asp843Val)
17g.745527T>CCA397503628GEMIN4c.2516A>G (p.Asp839Gly)
c.2483A>G (p.Asp828Gly)
c.2528A>G (p.Asp843Gly)
 dbSNP
17g.745527T>GCA397503629GEMIN4c.2516A>C (p.Asp839Ala)
c.2483A>C (p.Asp828Ala)
c.2528A>C (p.Asp843Ala)
17g.745527T=CA2242474293GEMIN4c.2516A= (p.Asp839=)
c.2483A= (p.Asp828=)
c.2528A= (p.Asp843=)
17g.745527_745530delinsTCCACA2242474292GEMIN4c.2513_2516delinsTGGA (p.Val838=)
c.2480_2483delinsTGGA (p.Val827=)
c.2525_2528delinsTGGA (p.Val842=)
17g.745528C>ACA397503631GEMIN4c.2515G>T (p.Asp839Tyr)
c.2482G>T (p.Asp828Tyr)
c.2527G>T (p.Asp843Tyr)
17g.745528C>GCA397503633GEMIN4c.2515G>C (p.Asp839His)
c.2482G>C (p.Asp828His)
c.2527G>C (p.Asp843His)
17g.745528C>TCA397503634GEMIN4c.2515G>A (p.Asp839Asn)
c.2482G>A (p.Asp828Asn)
c.2527G>A (p.Asp843Asn)
17g.745534_745536delCA8262404GEMIN4c.2513_2515del (p.Val838del)
c.2480_2482del (p.Val827del)
c.2525_2527del (p.Val842del)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745529C>ACA497384145GEMIN4c.2514G>T (p.Val838=)
c.2481G>T (p.Val827=)
c.2526G>T (p.Val842=)
17g.745529C>GCA497384148GEMIN4c.2514G>C (p.Val838=)
c.2481G>C (p.Val827=)
c.2526G>C (p.Val842=)
17g.745529C>TCA497384151GEMIN4c.2514G>A (p.Val838=)
c.2481G>A (p.Val827=)
c.2526G>A (p.Val842=)
17g.745530A=CA2242474294GEMIN4c.2513T= (p.Val838=)
c.2480T= (p.Val827=)
c.2525T= (p.Val842=)
17g.745530A>CCA397503640GEMIN4c.2513T>G (p.Val838Gly)
c.2480T>G (p.Val827Gly)
c.2525T>G (p.Val842Gly)
 dbSNP
17g.745530A>GCA397503639GEMIN4c.2513T>C (p.Val838Ala)
c.2480T>C (p.Val827Ala)
c.2525T>C (p.Val842Ala)
17g.745530A>TCA397503637GEMIN4c.2513T>A (p.Val838Glu)
c.2480T>A (p.Val827Glu)
c.2525T>A (p.Val842Glu)
17g.745531C>ACA397503642GEMIN4c.2512G>T (p.Val838Leu)
c.2479G>T (p.Val827Leu)
c.2524G>T (p.Val842Leu)
17g.745531C=CA2242474295GEMIN4c.2512G= (p.Val838=)
c.2479G= (p.Val827=)
c.2524G= (p.Val842=)
17g.745531C>GCA286713647GEMIN4c.2512G>C (p.Val838Leu)
c.2479G>C (p.Val827Leu)
c.2524G>C (p.Val842Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.745531C>TCA397503645GEMIN4c.2512G>A (p.Val838Met)
c.2479G>A (p.Val827Met)
c.2524G>A (p.Val842Met)
 ClinVar
17g.745532C>ACA497384165GEMIN4c.2511G>T (p.Val837=)
c.2478G>T (p.Val826=)
c.2523G>T (p.Val841=)
17g.745532C=CA2242474296GEMIN4c.2511G= (p.Val837=)
c.2478G= (p.Val826=)
c.2523G= (p.Val841=)
17g.745532C>GCA497384167GEMIN4c.2511G>C (p.Val837=)
c.2478G>C (p.Val826=)
c.2523G>C (p.Val841=)
17g.745532C>TCA497384166GEMIN4c.2511G>A (p.Val837=)
c.2478G>A (p.Val826=)
c.2523G>A (p.Val841=)
 dbSNP gnomAD v2 gnomAD v4
17g.745533A>CCA397503647GEMIN4c.2510T>G (p.Val837Gly)
c.2477T>G (p.Val826Gly)
c.2522T>G (p.Val841Gly)
17g.745533A>GCA397503649GEMIN4c.2510T>C (p.Val837Ala)
c.2477T>C (p.Val826Ala)
c.2522T>C (p.Val841Ala)
17g.745533A>TCA397503651GEMIN4c.2510T>A (p.Val837Glu)
c.2477T>A (p.Val826Glu)
c.2522T>A (p.Val841Glu)
17g.745534C>ACA397503653GEMIN4c.2509G>T (p.Val837Leu)
c.2476G>T (p.Val826Leu)
c.2521G>T (p.Val841Leu)
17g.745534C=CA2242474297GEMIN4c.2509G= (p.Val837=)
c.2476G= (p.Val826=)
c.2521G= (p.Val841=)
17g.745534C>GCA397503654GEMIN4c.2509G>C (p.Val837Leu)
c.2476G>C (p.Val826Leu)
c.2521G>C (p.Val841Leu)
17g.745534C>TCA397503656GEMIN4c.2509G>A (p.Val837Met)
c.2476G>A (p.Val826Met)
c.2521G>A (p.Val841Met)
 dbSNP gnomAD v3 gnomAD v4
17g.745535C>ACA397503657GEMIN4c.2508G>T (p.Leu836Phe)
c.2475G>T (p.Leu825Phe)
c.2520G>T (p.Leu840Phe)
17g.745535C>GCA397503658GEMIN4c.2508G>C (p.Leu836Phe)
c.2475G>C (p.Leu825Phe)
c.2520G>C (p.Leu840Phe)
17g.745535C>TCA497384174GEMIN4c.2508G>A (p.Leu836=)
c.2475G>A (p.Leu825=)
c.2520G>A (p.Leu840=)
17g.745535_745537delinsCAACA2242474298GEMIN4c.2506_2508delinsTTG (p.Leu836=)
c.2473_2475delinsTTG (p.Leu825=)
c.2518_2520delinsTTG (p.Leu840=)
17g.745536A=CA2242474300GEMIN4c.2507T= (p.Leu836=)
c.2474T= (p.Leu825=)
c.2519T= (p.Leu840=)
17g.745536A>CCA397503662GEMIN4c.2507T>G (p.Leu836Trp)
c.2474T>G (p.Leu825Trp)
c.2519T>G (p.Leu840Trp)
17g.745536A>GCA397503664GEMIN4c.2507T>C (p.Leu836Ser)
c.2474T>C (p.Leu825Ser)
c.2519T>C (p.Leu840Ser)
 dbSNP
17g.745536A>TCA397503661GEMIN4c.2507T>A (p.Leu836Ter)
c.2474T>A (p.Leu825Ter)
c.2519T>A (p.Leu840Ter)
17g.745536_745537delCA8262405GEMIN4c.2506_2507del (p.Leu836GlyfsTer8)
c.2473_2474del (p.Leu825GlyfsTer8)
c.2518_2519del (p.Leu840GlyfsTer8)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745536_745538delinsAAGCA2242474299GEMIN4c.2505_2507delinsCTT (p.Leu835=)
c.2472_2474delinsCTT (p.Leu824=)
c.2517_2519delinsCTT (p.Leu839=)
17g.745537A>CCA397503666GEMIN4c.2506T>G (p.Leu836Val)
c.2473T>G (p.Leu825Val)
c.2518T>G (p.Leu840Val)
17g.745537A>GCA497384178GEMIN4c.2506T>C (p.Leu836=)
c.2473T>C (p.Leu825=)
c.2518T>C (p.Leu840=)
17g.745537A>TCA397503668GEMIN4c.2506T>A (p.Leu836Met)
c.2473T>A (p.Leu825Met)
c.2518T>A (p.Leu840Met)
17g.745542_745543delCA624456764GEMIN4c.2505_2506del (p.Leu836GlyfsTer8)
c.2472_2473del (p.Leu825GlyfsTer8)
c.2517_2518del (p.Leu840GlyfsTer8)
 dbSNP gnomAD v2 gnomAD v4
17g.745538G>ACA497384179GEMIN4c.2505C>T (p.Leu835=)
c.2472C>T (p.Leu824=)
c.2517C>T (p.Leu839=)
 gnomAD v4 COSMIC
17g.745538G>CCA497384180GEMIN4c.2505C>G (p.Leu835=)
c.2472C>G (p.Leu824=)
c.2517C>G (p.Leu839=)
 gnomAD v4
17g.745538G>TCA497384181GEMIN4c.2505C>A (p.Leu835=)
c.2472C>A (p.Leu824=)
c.2517C>A (p.Leu839=)
 gnomAD v4
17g.745539A>CCA397503670GEMIN4c.2504T>G (p.Leu835Arg)
c.2471T>G (p.Leu824Arg)
c.2516T>G (p.Leu839Arg)
17g.745539A>GCA397503672GEMIN4c.2504T>C (p.Leu835Pro)
c.2471T>C (p.Leu824Pro)
c.2516T>C (p.Leu839Pro)
17g.745539A>TCA397503674GEMIN4c.2504T>A (p.Leu835His)
c.2471T>A (p.Leu824His)
c.2516T>A (p.Leu839His)
17g.745540G>ACA397503676GEMIN4c.2503C>T (p.Leu835Phe)
c.2470C>T (p.Leu824Phe)
c.2515C>T (p.Leu839Phe)
 gnomAD v4
17g.745540G>CCA8262406GEMIN4c.2503C>G (p.Leu835Val)
c.2470C>G (p.Leu824Val)
c.2515C>G (p.Leu839Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745540G=CA2242474301GEMIN4c.2503C= (p.Leu835=)
c.2470C= (p.Leu824=)
c.2515C= (p.Leu839=)
17g.745540G>TCA397503677GEMIN4c.2503C>A (p.Leu835Ile)
c.2470C>A (p.Leu824Ile)
c.2515C>A (p.Leu839Ile)
 dbSNP
17g.745541A>CCA497384187GEMIN4c.2502T>G (p.Ser834=)
c.2469T>G (p.Ser823=)
c.2514T>G (p.Ser838=)
17g.745541A>GCA497384189GEMIN4c.2502T>C (p.Ser834=)
c.2469T>C (p.Ser823=)
c.2514T>C (p.Ser838=)
17g.745541A>TCA497384192GEMIN4c.2502T>A (p.Ser834=)
c.2469T>A (p.Ser823=)
c.2514T>A (p.Ser838=)
17g.745542G>ACA397503679GEMIN4c.2501C>T (p.Ser834Phe)
c.2468C>T (p.Ser823Phe)
c.2513C>T (p.Ser838Phe)
17g.745542G>CCA397503681GEMIN4c.2501C>G (p.Ser834Cys)
c.2468C>G (p.Ser823Cys)
c.2513C>G (p.Ser838Cys)
17g.745542G>TCA397503682GEMIN4c.2501C>A (p.Ser834Tyr)
c.2468C>A (p.Ser823Tyr)
c.2513C>A (p.Ser838Tyr)
17g.745543A>CCA397503685GEMIN4c.2500T>G (p.Ser834Ala)
c.2467T>G (p.Ser823Ala)
c.2512T>G (p.Ser838Ala)
17g.745543A>GCA397503686GEMIN4c.2500T>C (p.Ser834Pro)
c.2467T>C (p.Ser823Pro)
c.2512T>C (p.Ser838Pro)
17g.745543A>TCA397503684GEMIN4c.2500T>A (p.Ser834Thr)
c.2467T>A (p.Ser823Thr)
c.2512T>A (p.Ser838Thr)
17g.745544C>ACA497384197GEMIN4c.2499G>T (p.Leu833=)
c.2466G>T (p.Leu822=)
c.2511G>T (p.Leu837=)
 dbSNP gnomAD v2 gnomAD v4
17g.745544C=CA2242474302GEMIN4c.2499G= (p.Leu833=)
c.2466G= (p.Leu822=)
c.2511G= (p.Leu837=)
17g.745544C>GCA497384198GEMIN4c.2499G>C (p.Leu833=)
c.2466G>C (p.Leu822=)
c.2511G>C (p.Leu837=)
 dbSNP gnomAD v2 gnomAD v4
17g.745544C>TCA497384199GEMIN4c.2499G>A (p.Leu833=)
c.2466G>A (p.Leu822=)
c.2511G>A (p.Leu837=)
17g.745545A>CCA397503687GEMIN4c.2498T>G (p.Leu833Arg)
c.2465T>G (p.Leu822Arg)
c.2510T>G (p.Leu837Arg)
17g.745545A>GCA397503688GEMIN4c.2498T>C (p.Leu833Pro)
c.2465T>C (p.Leu822Pro)
c.2510T>C (p.Leu837Pro)
17g.745545A>TCA397503689GEMIN4c.2498T>A (p.Leu833Gln)
c.2465T>A (p.Leu822Gln)
c.2510T>A (p.Leu837Gln)
17g.745546G>ACA497384204GEMIN4c.2497C>T (p.Leu833=)
c.2464C>T (p.Leu822=)
c.2509C>T (p.Leu837=)
17g.745546G>CCA397503690GEMIN4c.2497C>G (p.Leu833Val)
c.2464C>G (p.Leu822Val)
c.2509C>G (p.Leu837Val)
17g.745546G>TCA397503691GEMIN4c.2497C>A (p.Leu833Met)
c.2464C>A (p.Leu822Met)
c.2509C>A (p.Leu837Met)
17g.745547C>ACA397503694GEMIN4c.2496G>T (p.Met832Ile)
c.2463G>T (p.Met821Ile)
c.2508G>T (p.Met836Ile)
 gnomAD v4
17g.745547C>GCA397503692GEMIN4c.2496G>C (p.Met832Ile)
c.2463G>C (p.Met821Ile)
c.2508G>C (p.Met836Ile)
17g.745547C>TCA397503693GEMIN4c.2496G>A (p.Met832Ile)
c.2463G>A (p.Met821Ile)
c.2508G>A (p.Met836Ile)
17g.745548A>CCA397503695GEMIN4c.2495T>G (p.Met832Arg)
c.2462T>G (p.Met821Arg)
c.2507T>G (p.Met836Arg)
17g.745548A>GCA397503696GEMIN4c.2495T>C (p.Met832Thr)
c.2462T>C (p.Met821Thr)
c.2507T>C (p.Met836Thr)
17g.745548A>TCA397503697GEMIN4c.2495T>A (p.Met832Lys)
c.2462T>A (p.Met821Lys)
c.2507T>A (p.Met836Lys)
17g.745549T>ACA397503698GEMIN4c.2494A>T (p.Met832Leu)
c.2461A>T (p.Met821Leu)
c.2506A>T (p.Met836Leu)
 dbSNP
17g.745549T>CCA397503699GEMIN4c.2494A>G (p.Met832Val)
c.2461A>G (p.Met821Val)
c.2506A>G (p.Met836Val)
17g.745549T>GCA397503700GEMIN4c.2494A>C (p.Met832Leu)
c.2461A>C (p.Met821Leu)
c.2506A>C (p.Met836Leu)
17g.745549T=CA2242474303GEMIN4c.2494A= (p.Met832=)
c.2461A= (p.Met821=)
c.2506A= (p.Met836=)
17g.745550C>ACA397503701GEMIN4c.2493G>T (p.Arg831Ser)
c.2460G>T (p.Arg820Ser)
c.2505G>T (p.Arg835Ser)
17g.745550C>GCA397503702GEMIN4c.2493G>C (p.Arg831Ser)
c.2460G>C (p.Arg820Ser)
c.2505G>C (p.Arg835Ser)
17g.745550C>TCA497384210GEMIN4c.2493G>A (p.Arg831=)
c.2460G>A (p.Arg820=)
c.2505G>A (p.Arg835=)
17g.745551C>ACA397503703GEMIN4c.2492G>T (p.Arg831Met)
c.2459G>T (p.Arg820Met)
c.2504G>T (p.Arg835Met)
17g.745551C=CA2242474304GEMIN4c.2492G= (p.Arg831=)
c.2459G= (p.Arg820=)
c.2504G= (p.Arg835=)
17g.745551C>GCA397503705GEMIN4c.2492G>C (p.Arg831Thr)
c.2459G>C (p.Arg820Thr)
c.2504G>C (p.Arg835Thr)
17g.745551C>TCA397503704GEMIN4c.2492G>A (p.Arg831Lys)
c.2459G>A (p.Arg820Lys)
c.2504G>A (p.Arg835Lys)
 dbSNP gnomAD v2 gnomAD v4
17g.745552T>ACA397503706GEMIN4c.2491A>T (p.Arg831Trp)
c.2458A>T (p.Arg820Trp)
c.2503A>T (p.Arg835Trp)
17g.745552T>CCA397503707GEMIN4c.2491A>G (p.Arg831Gly)
c.2458A>G (p.Arg820Gly)
c.2503A>G (p.Arg835Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.745552T>GCA497384213GEMIN4c.2491A>C (p.Arg831=)
c.2458A>C (p.Arg820=)
c.2503A>C (p.Arg835=)
17g.745552T=CA2242474305GEMIN4c.2491A= (p.Arg831=)
c.2458A= (p.Arg820=)
c.2503A= (p.Arg835=)
17g.745553C>ACA397503708GEMIN4c.2490G>T (p.Glu830Asp)
c.2457G>T (p.Glu819Asp)
c.2502G>T (p.Glu834Asp)
17g.745553C=CA2242474306GEMIN4c.2490G= (p.Glu830=)
c.2457G= (p.Glu819=)
c.2502G= (p.Glu834=)
17g.745553C>GCA397503709GEMIN4c.2490G>C (p.Glu830Asp)
c.2457G>C (p.Glu819Asp)
c.2502G>C (p.Glu834Asp)
17g.745553C>TCA497384221GEMIN4c.2490G>A (p.Glu830=)
c.2457G>A (p.Glu819=)
c.2502G>A (p.Glu834=)
 dbSNP gnomAD v2 gnomAD v4
17g.745554T>ACA397503710GEMIN4c.2489A>T (p.Glu830Val)
c.2456A>T (p.Glu819Val)
c.2501A>T (p.Glu834Val)
17g.745554T>CCA397503711GEMIN4c.2489A>G (p.Glu830Gly)
c.2456A>G (p.Glu819Gly)
c.2501A>G (p.Glu834Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.745554T>GCA397503712GEMIN4c.2489A>C (p.Glu830Ala)
c.2456A>C (p.Glu819Ala)
c.2501A>C (p.Glu834Ala)
17g.745554T=CA2242474307GEMIN4c.2489A= (p.Glu830=)
c.2456A= (p.Glu819=)
c.2501A= (p.Glu834=)
17g.745555C>ACA397503713GEMIN4c.2488G>T (p.Glu830Ter)
c.2455G>T (p.Glu819Ter)
c.2500G>T (p.Glu834Ter)
17g.745555C>GCA397503714GEMIN4c.2488G>C (p.Glu830Gln)
c.2455G>C (p.Glu819Gln)
c.2500G>C (p.Glu834Gln)
17g.745555C>TCA397503715GEMIN4c.2488G>A (p.Glu830Lys)
c.2455G>A (p.Glu819Lys)
c.2500G>A (p.Glu834Lys)
 gnomAD v4
17g.745556C>ACA497384229GEMIN4c.2487G>T (p.Ser829=)
c.2454G>T (p.Ser818=)
c.2499G>T (p.Ser833=)
17g.745556C=CA2242474308GEMIN4c.2487G= (p.Ser829=)
c.2454G= (p.Ser818=)
c.2499G= (p.Ser833=)
17g.745556C>GCA497384233GEMIN4c.2487G>C (p.Ser829=)
c.2454G>C (p.Ser818=)
c.2499G>C (p.Ser833=)
17g.745556C>TCA8262407GEMIN4c.2487G>A (p.Ser829=)
c.2454G>A (p.Ser818=)
c.2499G>A (p.Ser833=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.745557G>ACA397503716GEMIN4c.2486C>T (p.Ser829Leu)
c.2453C>T (p.Ser818Leu)
c.2498C>T (p.Ser833Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745557G>CCA397503717GEMIN4c.2486C>G (p.Ser829Trp)
c.2453C>G (p.Ser818Trp)
c.2498C>G (p.Ser833Trp)
17g.745557G=CA2242474309GEMIN4c.2486C= (p.Ser829=)
c.2453C= (p.Ser818=)
c.2498C= (p.Ser833=)
17g.745557G>TCA397503718GEMIN4c.2486C>A (p.Ser829Ter)
c.2453C>A (p.Ser818Ter)
c.2498C>A (p.Ser833Ter)
17g.745558A=CA2242474310GEMIN4c.2485T= (p.Ser829=)
c.2452T= (p.Ser818=)
c.2497T= (p.Ser833=)
17g.745558A>CCA286713648GEMIN4c.2485T>G (p.Ser829Ala)
c.2452T>G (p.Ser818Ala)
c.2497T>G (p.Ser833Ala)
 dbSNP
17g.745558A>GCA397503720GEMIN4c.2485T>C (p.Ser829Pro)
c.2452T>C (p.Ser818Pro)
c.2497T>C (p.Ser833Pro)
17g.745558A>TCA397503719GEMIN4c.2485T>A (p.Ser829Thr)
c.2452T>A (p.Ser818Thr)
c.2497T>A (p.Ser833Thr)
17g.745559G>ACA497384248GEMIN4c.2484C>T (p.Ile828=)
c.2451C>T (p.Ile817=)
c.2496C>T (p.Ile832=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745559G>CCA397503721GEMIN4c.2484C>G (p.Ile828Met)
c.2451C>G (p.Ile817Met)
c.2496C>G (p.Ile832Met)
17g.745559G=CA2242474311GEMIN4c.2484C= (p.Ile828=)
c.2451C= (p.Ile817=)
c.2496C= (p.Ile832=)
17g.745559G>TCA497384247GEMIN4c.2484C>A (p.Ile828=)
c.2451C>A (p.Ile817=)
c.2496C>A (p.Ile832=)
17g.745560A=CA2242474312GEMIN4c.2483T= (p.Ile828=)
c.2450T= (p.Ile817=)
c.2495T= (p.Ile832=)
17g.745560A>CCA397503722GEMIN4c.2483T>G (p.Ile828Ser)
c.2450T>G (p.Ile817Ser)
c.2495T>G (p.Ile832Ser)
17g.745560A>GCA397503723GEMIN4c.2483T>C (p.Ile828Thr)
c.2450T>C (p.Ile817Thr)
c.2495T>C (p.Ile832Thr)
17g.745560A>TCA397503724GEMIN4c.2483T>A (p.Ile828Asn)
c.2450T>A (p.Ile817Asn)
c.2495T>A (p.Ile832Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745561T>ACA397503725GEMIN4c.2482A>T (p.Ile828Phe)
c.2449A>T (p.Ile817Phe)
c.2494A>T (p.Ile832Phe)
17g.745561T>CCA397503726GEMIN4c.2482A>G (p.Ile828Val)
c.2449A>G (p.Ile817Val)
c.2494A>G (p.Ile832Val)
17g.745561T>GCA397503727GEMIN4c.2482A>C (p.Ile828Leu)
c.2449A>C (p.Ile817Leu)
c.2494A>C (p.Ile832Leu)
17g.745562G>ACA286713649GEMIN4c.2481C>T (p.Gly827=)
c.2448C>T (p.Gly816=)
c.2493C>T (p.Gly831=)
 dbSNP
17g.745562G>CCA497384254GEMIN4c.2481C>G (p.Gly827=)
c.2448C>G (p.Gly816=)
c.2493C>G (p.Gly831=)
17g.745562G=CA2242474313GEMIN4c.2481C= (p.Gly827=)
c.2448C= (p.Gly816=)
c.2493C= (p.Gly831=)
17g.745562G>TCA497384256GEMIN4c.2481C>A (p.Gly827=)
c.2448C>A (p.Gly816=)
c.2493C>A (p.Gly831=)
17g.745563C>ACA397503728GEMIN4c.2480G>T (p.Gly827Val)
c.2447G>T (p.Gly816Val)
c.2492G>T (p.Gly831Val)
17g.745563C=CA2242474314GEMIN4c.2480G= (p.Gly827=)
c.2447G= (p.Gly816=)
c.2492G= (p.Gly831=)
17g.745563C>GCA397503729GEMIN4c.2480G>C (p.Gly827Ala)
c.2447G>C (p.Gly816Ala)
c.2492G>C (p.Gly831Ala)
17g.745563C>TCA397503730GEMIN4c.2480G>A (p.Gly827Asp)
c.2447G>A (p.Gly816Asp)
c.2492G>A (p.Gly831Asp)
 dbSNP gnomAD v2 gnomAD v4
17g.745564C>ACA397503731GEMIN4c.2479G>T (p.Gly827Cys)
c.2446G>T (p.Gly816Cys)
c.2491G>T (p.Gly831Cys)
17g.745564C=CA2242474315GEMIN4c.2479G= (p.Gly827=)
c.2446G= (p.Gly816=)
c.2491G= (p.Gly831=)
17g.745564C>GCA397503732GEMIN4c.2479G>C (p.Gly827Arg)
c.2446G>C (p.Gly816Arg)
c.2491G>C (p.Gly831Arg)
17g.745564C>TCA8262408GEMIN4c.2479G>A (p.Gly827Ser)
c.2446G>A (p.Gly816Ser)
c.2491G>A (p.Gly831Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745565G>ACA8262409GEMIN4c.2478C>T (p.Ser826=)
c.2445C>T (p.Ser815=)
c.2490C>T (p.Ser830=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745565G>CCA397503733GEMIN4c.2478C>G (p.Ser826Arg)
c.2445C>G (p.Ser815Arg)
c.2490C>G (p.Ser830Arg)
17g.745565G=CA2242474316GEMIN4c.2478C= (p.Ser826=)
c.2445C= (p.Ser815=)
c.2490C= (p.Ser830=)
17g.745565G>TCA397503734GEMIN4c.2478C>A (p.Ser826Arg)
c.2445C>A (p.Ser815Arg)
c.2490C>A (p.Ser830Arg)
 dbSNP
17g.745566_745568delCA2635152685GEMIN4c.2476_2478del (p.Ser826del)
c.2443_2445del (p.Ser815del)
c.2488_2490del (p.Ser830del)
 gnomAD v4
17g.745566C>ACA8262410GEMIN4c.2477G>T (p.Ser826Ile)
c.2444G>T (p.Ser815Ile)
c.2489G>T (p.Ser830Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745566C=CA2242474317GEMIN4c.2477G= (p.Ser826=)
c.2444G= (p.Ser815=)
c.2489G= (p.Ser830=)
17g.745566C>GCA397503735GEMIN4c.2477G>C (p.Ser826Thr)
c.2444G>C (p.Ser815Thr)
c.2489G>C (p.Ser830Thr)
 gnomAD v4
17g.745566C>TCA397503736GEMIN4c.2477G>A (p.Ser826Asn)
c.2444G>A (p.Ser815Asn)
c.2489G>A (p.Ser830Asn)
 dbSNP gnomAD v4
17g.745567T>ACA397503737GEMIN4c.2476A>T (p.Ser826Cys)
c.2443A>T (p.Ser815Cys)
c.2488A>T (p.Ser830Cys)
17g.745567T>CCA8262411GEMIN4c.2476A>G (p.Ser826Gly)
c.2443A>G (p.Ser815Gly)
c.2488A>G (p.Ser830Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745567T>GCA397503738GEMIN4c.2476A>C (p.Ser826Arg)
c.2443A>C (p.Ser815Arg)
c.2488A>C (p.Ser830Arg)
17g.745567T=CA2242474318GEMIN4c.2476A= (p.Ser826=)
c.2443A= (p.Ser815=)
c.2488A= (p.Ser830=)
17g.745568G>ACA497383749GEMIN4c.2475C>T (p.Ser825=)
c.2442C>T (p.Ser814=)
c.2487C>T (p.Ser829=)
17g.745568G>CCA497383748GEMIN4c.2475C>G (p.Ser825=)
c.2442C>G (p.Ser814=)
c.2487C>G (p.Ser829=)
17g.745568G>TCA497383747GEMIN4c.2475C>A (p.Ser825=)
c.2442C>A (p.Ser814=)
c.2487C>A (p.Ser829=)
17g.745569G>ACA397503739GEMIN4c.2474C>T (p.Ser825Phe)
c.2441C>T (p.Ser814Phe)
c.2486C>T (p.Ser829Phe)
 dbSNP gnomAD v4
17g.745569G>CCA397503740GEMIN4c.2474C>G (p.Ser825Cys)
c.2441C>G (p.Ser814Cys)
c.2486C>G (p.Ser829Cys)
17g.745569G=CA2242474319GEMIN4c.2474C= (p.Ser825=)
c.2441C= (p.Ser814=)
c.2486C= (p.Ser829=)
17g.745569G>TCA8262412GEMIN4c.2474C>A (p.Ser825Tyr)
c.2441C>A (p.Ser814Tyr)
c.2486C>A (p.Ser829Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745569_745572delCA2808150944GEMIN4c.2471_2474del (p.Val824AlafsTer?)
c.2438_2441del (p.Val813AlafsTer?)
c.2483_2486del (p.Val828AlafsTer?)
17g.745570A=CA2242474320GEMIN4c.2473T= (p.Ser825=)
c.2440T= (p.Ser814=)
c.2485T= (p.Ser829=)
17g.745570A>CCA286713650GEMIN4c.2473T>G (p.Ser825Ala)
c.2440T>G (p.Ser814Ala)
c.2485T>G (p.Ser829Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.745570A>GCA397503742GEMIN4c.2473T>C (p.Ser825Pro)
c.2440T>C (p.Ser814Pro)
c.2485T>C (p.Ser829Pro)
17g.745570A>TCA397503741GEMIN4c.2473T>A (p.Ser825Thr)
c.2440T>A (p.Ser814Thr)
c.2485T>A (p.Ser829Thr)
17g.745571G>ACA497383754GEMIN4c.2472C>T (p.Val824=)
c.2439C>T (p.Val813=)
c.2484C>T (p.Val828=)
17g.745571G>CCA497383757GEMIN4c.2472C>G (p.Val824=)
c.2439C>G (p.Val813=)
c.2484C>G (p.Val828=)
17g.745571G>TCA497383756GEMIN4c.2472C>A (p.Val824=)
c.2439C>A (p.Val813=)
c.2484C>A (p.Val828=)
 gnomAD v4
17g.745572A>CCA397503743GEMIN4c.2471T>G (p.Val824Gly)
c.2438T>G (p.Val813Gly)
c.2483T>G (p.Val828Gly)
17g.745572A>GCA397503744GEMIN4c.2471T>C (p.Val824Ala)
c.2438T>C (p.Val813Ala)
c.2483T>C (p.Val828Ala)
 gnomAD v4
17g.745572A>TCA397503745GEMIN4c.2471T>A (p.Val824Asp)
c.2438T>A (p.Val813Asp)
c.2483T>A (p.Val828Asp)
17g.745573C>ACA286713651GEMIN4c.2470G>T (p.Val824Phe)
c.2437G>T (p.Val813Phe)
c.2482G>T (p.Val828Phe)
 dbSNP
17g.745573C=CA2242474321GEMIN4c.2470G= (p.Val824=)
c.2437G= (p.Val813=)
c.2482G= (p.Val828=)
17g.745573C>GCA397503746GEMIN4c.2470G>C (p.Val824Leu)
c.2437G>C (p.Val813Leu)
c.2482G>C (p.Val828Leu)
17g.745573C>TCA8262413GEMIN4c.2470G>A (p.Val824Ile)
c.2437G>A (p.Val813Ile)
c.2482G>A (p.Val828Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745574G>ACA497383764GEMIN4c.2469C>T (p.Cys823=)
c.2436C>T (p.Cys812=)
c.2481C>T (p.Cys827=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.745574G>CCA397503747GEMIN4c.2469C>G (p.Cys823Trp)
c.2436C>G (p.Cys812Trp)
c.2481C>G (p.Cys827Trp)
17g.745574G=CA2242474322GEMIN4c.2469C= (p.Cys823=)
c.2436C= (p.Cys812=)
c.2481C= (p.Cys827=)
17g.745574G>TCA397503748GEMIN4c.2469C>A (p.Cys823Ter)
c.2436C>A (p.Cys812Ter)
c.2481C>A (p.Cys827Ter)
17g.745575C>ACA397503749GEMIN4c.2468G>T (p.Cys823Phe)
c.2435G>T (p.Cys812Phe)
c.2480G>T (p.Cys827Phe)
17g.745575C>GCA397503750GEMIN4c.2468G>C (p.Cys823Ser)
c.2435G>C (p.Cys812Ser)
c.2480G>C (p.Cys827Ser)
17g.745575C>TCA397503751GEMIN4c.2468G>A (p.Cys823Tyr)
c.2435G>A (p.Cys812Tyr)
c.2480G>A (p.Cys827Tyr)
17g.745575_745581delCA2808150945GEMIN4c.2462_2468del (p.Cys821SerfsTer?)
c.2429_2435del (p.Cys810SerfsTer?)
c.2474_2480del (p.Cys825SerfsTer?)
17g.745576A=CA2242474323GEMIN4c.2467T= (p.Cys823=)
c.2434T= (p.Cys812=)
c.2479T= (p.Cys827=)
17g.745576A>CCA397503752GEMIN4c.2467T>G (p.Cys823Gly)
c.2434T>G (p.Cys812Gly)
c.2479T>G (p.Cys827Gly)
 dbSNP
17g.745576A>GCA397503753GEMIN4c.2467T>C (p.Cys823Arg)
c.2434T>C (p.Cys812Arg)
c.2479T>C (p.Cys827Arg)
17g.745576A>TCA397503754GEMIN4c.2467T>A (p.Cys823Ser)
c.2434T>A (p.Cys812Ser)
c.2479T>A (p.Cys827Ser)
17g.745577G>ACA497383768GEMIN4c.2466C>T (p.Cys822=)
c.2433C>T (p.Cys811=)
c.2478C>T (p.Cys826=)
17g.745577G>CCA397503755GEMIN4c.2466C>G (p.Cys822Trp)
c.2433C>G (p.Cys811Trp)
c.2478C>G (p.Cys826Trp)
 gnomAD v4
17g.745577G>TCA397503756GEMIN4c.2466C>A (p.Cys822Ter)
c.2433C>A (p.Cys811Ter)
c.2478C>A (p.Cys826Ter)
17g.745578C>ACA397503757GEMIN4c.2465G>T (p.Cys822Phe)
c.2432G>T (p.Cys811Phe)
c.2477G>T (p.Cys826Phe)
17g.745578C>GCA397503759GEMIN4c.2465G>C (p.Cys822Ser)
c.2432G>C (p.Cys811Ser)
c.2477G>C (p.Cys826Ser)
 gnomAD v4
17g.745578C>TCA397503758GEMIN4c.2465G>A (p.Cys822Tyr)
c.2432G>A (p.Cys811Tyr)
c.2477G>A (p.Cys826Tyr)
17g.745579A=CA2242474324GEMIN4c.2464T= (p.Cys822=)
c.2431T= (p.Cys811=)
c.2476T= (p.Cys826=)
17g.745579A>CCA397503760GEMIN4c.2464T>G (p.Cys822Gly)
c.2431T>G (p.Cys811Gly)
c.2476T>G (p.Cys826Gly)
 dbSNP
17g.745579A>GCA8262414GEMIN4c.2464T>C (p.Cys822Arg)
c.2431T>C (p.Cys811Arg)
c.2476T>C (p.Cys826Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745579A>TCA397503761GEMIN4c.2464T>A (p.Cys822Ser)
c.2431T>A (p.Cys811Ser)
c.2476T>A (p.Cys826Ser)
17g.745580G>ACA497383769GEMIN4c.2463C>T (p.Cys821=)
c.2430C>T (p.Cys810=)
c.2475C>T (p.Cys825=)
 gnomAD v4
17g.745580G>CCA397503762GEMIN4c.2463C>G (p.Cys821Trp)
c.2430C>G (p.Cys810Trp)
c.2475C>G (p.Cys825Trp)
17g.745580G>TCA397503763GEMIN4c.2463C>A (p.Cys821Ter)
c.2430C>A (p.Cys810Ter)
c.2475C>A (p.Cys825Ter)
17g.745581C>ACA397503764GEMIN4c.2462G>T (p.Cys821Phe)
c.2429G>T (p.Cys810Phe)
c.2474G>T (p.Cys825Phe)
17g.745581C=CA2242474325GEMIN4c.2462G= (p.Cys821=)
c.2429G= (p.Cys810=)
c.2474G= (p.Cys825=)
17g.745581C>GCA397503765GEMIN4c.2462G>C (p.Cys821Ser)
c.2429G>C (p.Cys810Ser)
c.2474G>C (p.Cys825Ser)
17g.745581C>TCA397503766GEMIN4c.2462G>A (p.Cys821Tyr)
c.2429G>A (p.Cys810Tyr)
c.2474G>A (p.Cys825Tyr)
 dbSNP gnomAD v4
17g.745582A=CA2242474326GEMIN4c.2461T= (p.Cys821=)
c.2428T= (p.Cys810=)
c.2473T= (p.Cys825=)
17g.745582A>CCA8262415GEMIN4c.2461T>G (p.Cys821Gly)
c.2428T>G (p.Cys810Gly)
c.2473T>G (p.Cys825Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745582A>GCA397503767GEMIN4c.2461T>C (p.Cys821Arg)
c.2428T>C (p.Cys810Arg)
c.2473T>C (p.Cys825Arg)
17g.745582A>TCA397503768GEMIN4c.2461T>A (p.Cys821Ser)
c.2428T>A (p.Cys810Ser)
c.2473T>A (p.Cys825Ser)
17g.745582_745583insACCAAACA2808150946GEMIN4c.2461_2462insTTGGTT (p.Glu820_Cys821insPheGly)
c.2428_2429insTTGGTT (p.Glu809_Cys810insPheGly)
c.2473_2474insTTGGTT (p.Glu824_Cys825insPheGly)
17g.745583C>ACA397503770GEMIN4c.2460G>T (p.Glu820Asp)
c.2427G>T (p.Glu809Asp)
c.2472G>T (p.Glu824Asp)
17g.745583C>GCA397503769GEMIN4c.2460G>C (p.Glu820Asp)
c.2427G>C (p.Glu809Asp)
c.2472G>C (p.Glu824Asp)
 gnomAD v4
17g.745583C>TCA497383774GEMIN4c.2460G>A (p.Glu820=)
c.2427G>A (p.Glu809=)
c.2472G>A (p.Glu824=)
 gnomAD v4
17g.745584T>ACA397503771GEMIN4c.2459A>T (p.Glu820Val)
c.2426A>T (p.Glu809Val)
c.2471A>T (p.Glu824Val)
17g.745584T>CCA397503772GEMIN4c.2459A>G (p.Glu820Gly)
c.2426A>G (p.Glu809Gly)
c.2471A>G (p.Glu824Gly)
17g.745584T>GCA397503773GEMIN4c.2459A>C (p.Glu820Ala)
c.2426A>C (p.Glu809Ala)
c.2471A>C (p.Glu824Ala)
 gnomAD v4
17g.745585C>ACA397503774GEMIN4c.2458G>T (p.Glu820Ter)
c.2425G>T (p.Glu809Ter)
c.2470G>T (p.Glu824Ter)
17g.745585C>GCA397503775GEMIN4c.2458G>C (p.Glu820Gln)
c.2425G>C (p.Glu809Gln)
c.2470G>C (p.Glu824Gln)
17g.745585C>TCA397503776GEMIN4c.2458G>A (p.Glu820Lys)
c.2425G>A (p.Glu809Lys)
c.2470G>A (p.Glu824Lys)
17g.745586C>ACA397503777GEMIN4c.2457G>T (p.Met819Ile)
c.2424G>T (p.Met808Ile)
c.2469G>T (p.Met823Ile)
17g.745586C>GCA397503778GEMIN4c.2457G>C (p.Met819Ile)
c.2424G>C (p.Met808Ile)
c.2469G>C (p.Met823Ile)
17g.745586C>TCA397503779GEMIN4c.2457G>A (p.Met819Ile)
c.2424G>A (p.Met808Ile)
c.2469G>A (p.Met823Ile)
17g.745587A=CA2242474327GEMIN4c.2456T= (p.Met819=)
c.2423T= (p.Met808=)
c.2468T= (p.Met823=)
17g.745587A>CCA397503780GEMIN4c.2456T>G (p.Met819Arg)
c.2423T>G (p.Met808Arg)
c.2468T>G (p.Met823Arg)
17g.745587A>GCA397503781GEMIN4c.2456T>C (p.Met819Thr)
c.2423T>C (p.Met808Thr)
c.2468T>C (p.Met823Thr)
 dbSNP gnomAD v2
17g.745587A>TCA397503782GEMIN4c.2456T>A (p.Met819Lys)
c.2423T>A (p.Met808Lys)
c.2468T>A (p.Met823Lys)
17g.745588T>ACA397503784GEMIN4c.2455A>T (p.Met819Leu)
c.2422A>T (p.Met808Leu)
c.2467A>T (p.Met823Leu)
17g.745588T>CCA397503785GEMIN4c.2455A>G (p.Met819Val)
c.2422A>G (p.Met808Val)
c.2467A>G (p.Met823Val)
 dbSNP
17g.745588T>GCA397503783GEMIN4c.2455A>C (p.Met819Leu)
c.2422A>C (p.Met808Leu)
c.2467A>C (p.Met823Leu)
17g.745588T=CA2242474328GEMIN4c.2455A= (p.Met819=)
c.2422A= (p.Met808=)
c.2467A= (p.Met823=)
17g.745588dupCA286713652GEMIN4c.2455dup (p.Met819AsnfsTer26)
c.2422dup (p.Met808AsnfsTer26)
c.2467dup (p.Met823AsnfsTer26)
 dbSNP
17g.745589C>ACA397503786GEMIN4c.2454G>T (p.Trp818Cys)
c.2421G>T (p.Trp807Cys)
c.2466G>T (p.Trp822Cys)
17g.745589C=CA2242474329GEMIN4c.2454G= (p.Trp818=)
c.2421G= (p.Trp807=)
c.2466G= (p.Trp822=)
17g.745589C>GCA286713653GEMIN4c.2454G>C (p.Trp818Cys)
c.2421G>C (p.Trp807Cys)
c.2466G>C (p.Trp822Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745589C>TCA397503787GEMIN4c.2454G>A (p.Trp818Ter)
c.2421G>A (p.Trp807Ter)
c.2466G>A (p.Trp822Ter)
 dbSNP gnomAD v2 gnomAD v4
17g.745590C>ACA397503788GEMIN4c.2453G>T (p.Trp818Leu)
c.2420G>T (p.Trp807Leu)
c.2465G>T (p.Trp822Leu)
17g.745590C=CA2242474330GEMIN4c.2453G= (p.Trp818=)
c.2420G= (p.Trp807=)
c.2465G= (p.Trp822=)
17g.745590C>GCA397503789GEMIN4c.2453G>C (p.Trp818Ser)
c.2420G>C (p.Trp807Ser)
c.2465G>C (p.Trp822Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.745590C>TCA397503790GEMIN4c.2453G>A (p.Trp818Ter)
c.2420G>A (p.Trp807Ter)
c.2465G>A (p.Trp822Ter)
17g.745591A=CA2242474331GEMIN4c.2452T= (p.Trp818=)
c.2419T= (p.Trp807=)
c.2464T= (p.Trp822=)
17g.745591A>CCA397503791GEMIN4c.2452T>G (p.Trp818Gly)
c.2419T>G (p.Trp807Gly)
c.2464T>G (p.Trp822Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.745591A>GCA249933GEMIN4c.2452T>C (p.Trp818Arg)
c.2419T>C (p.Trp807Arg)
c.2464T>C (p.Trp822Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.745591A>TCA397503792GEMIN4c.2452T>A (p.Trp818Arg)
c.2419T>A (p.Trp807Arg)
c.2464T>A (p.Trp822Arg)
17g.745592G>ACA497383788GEMIN4c.2451C>T (p.Ala817=)
c.2418C>T (p.Ala806=)
c.2463C>T (p.Ala821=)
17g.745592G>CCA497383789GEMIN4c.2451C>G (p.Ala817=)
c.2418C>G (p.Ala806=)
c.2463C>G (p.Ala821=)
17g.745592G>TCA497383790GEMIN4c.2451C>A (p.Ala817=)
c.2418C>A (p.Ala806=)
c.2463C>A (p.Ala821=)
17g.745593G>ACA397503793GEMIN4c.2450C>T (p.Ala817Val)
c.2417C>T (p.Ala806Val)
c.2462C>T (p.Ala821Val)
17g.745593G>CCA397503794GEMIN4c.2450C>G (p.Ala817Gly)
c.2417C>G (p.Ala806Gly)
c.2462C>G (p.Ala821Gly)
 dbSNP gnomAD v2
17g.745593G=CA2242474332GEMIN4c.2450C= (p.Ala817=)
c.2417C= (p.Ala806=)
c.2462C= (p.Ala821=)
17g.745593G>TCA397503795GEMIN4c.2450C>A (p.Ala817Asp)
c.2417C>A (p.Ala806Asp)
c.2462C>A (p.Ala821Asp)
17g.745594C>ACA397503797GEMIN4c.2449G>T (p.Ala817Ser)
c.2416G>T (p.Ala806Ser)
c.2461G>T (p.Ala821Ser)
17g.745594C>GCA397503798GEMIN4c.2449G>C (p.Ala817Pro)
c.2416G>C (p.Ala806Pro)
c.2461G>C (p.Ala821Pro)
17g.745594C>TCA397503796GEMIN4c.2449G>A (p.Ala817Thr)
c.2416G>A (p.Ala806Thr)
c.2461G>A (p.Ala821Thr)
17g.745595C>ACA497383795GEMIN4c.2448G>T (p.Leu816=)
c.2415G>T (p.Leu805=)
c.2460G>T (p.Leu820=)
17g.745595C>GCA497383796GEMIN4c.2448G>C (p.Leu816=)
c.2415G>C (p.Leu805=)
c.2460G>C (p.Leu820=)
17g.745595C>TCA497383797GEMIN4c.2448G>A (p.Leu816=)
c.2415G>A (p.Leu805=)
c.2460G>A (p.Leu820=)
17g.745596A=CA2242474333GEMIN4c.2447T= (p.Leu816=)
c.2414T= (p.Leu805=)
c.2459T= (p.Leu820=)
17g.745596A>CCA397503799GEMIN4c.2447T>G (p.Leu816Arg)
c.2414T>G (p.Leu805Arg)
c.2459T>G (p.Leu820Arg)
17g.745596A>GCA8262416GEMIN4c.2447T>C (p.Leu816Pro)
c.2414T>C (p.Leu805Pro)
c.2459T>C (p.Leu820Pro)
 dbSNP ExAC
17g.745596A>TCA397503800GEMIN4c.2447T>A (p.Leu816Gln)
c.2414T>A (p.Leu805Gln)
c.2459T>A (p.Leu820Gln)
17g.745597G>ACA497383801GEMIN4c.2446C>T (p.Leu816=)
c.2413C>T (p.Leu805=)
c.2458C>T (p.Leu820=)
17g.745597G>CCA397503801GEMIN4c.2446C>G (p.Leu816Val)
c.2413C>G (p.Leu805Val)
c.2458C>G (p.Leu820Val)
17g.745597G>TCA397503802GEMIN4c.2446C>A (p.Leu816Met)
c.2413C>A (p.Leu805Met)
c.2458C>A (p.Leu820Met)
17g.745598G>ACA8262417GEMIN4c.2445C>T (p.Leu815=)
c.2412C>T (p.Leu804=)
c.2457C>T (p.Leu819=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745598G>CCA497383805GEMIN4c.2445C>G (p.Leu815=)
c.2412C>G (p.Leu804=)
c.2457C>G (p.Leu819=)
 dbSNP gnomAD v3 gnomAD v4
17g.745598G=CA2242474334GEMIN4c.2445C= (p.Leu815=)
c.2412C= (p.Leu804=)
c.2457C= (p.Leu819=)
17g.745598G>TCA497383806GEMIN4c.2445C>A (p.Leu815=)
c.2412C>A (p.Leu804=)
c.2457C>A (p.Leu819=)
17g.745598_745608dupCA2635152737GEMIN4c.2435_2445dup (p.Leu816AlafsTer?)
c.2402_2412dup (p.Leu805AlafsTer?)
c.2447_2457dup (p.Leu820AlafsTer?)
 gnomAD v4
17g.745599A>CCA397503805GEMIN4c.2444T>G (p.Leu815Arg)
c.2411T>G (p.Leu804Arg)
c.2456T>G (p.Leu819Arg)
17g.745599A>GCA397503803GEMIN4c.2444T>C (p.Leu815Pro)
c.2411T>C (p.Leu804Pro)
c.2456T>C (p.Leu819Pro)
 gnomAD v4
17g.745599A>TCA397503804GEMIN4c.2444T>A (p.Leu815His)
c.2411T>A (p.Leu804His)
c.2456T>A (p.Leu819His)
17g.745600G>ACA397503806GEMIN4c.2443C>T (p.Leu815Phe)
c.2410C>T (p.Leu804Phe)
c.2455C>T (p.Leu819Phe)
17g.745600G>CCA397503807GEMIN4c.2443C>G (p.Leu815Val)
c.2410C>G (p.Leu804Val)
c.2455C>G (p.Leu819Val)
17g.745600G>TCA397503808GEMIN4c.2443C>A (p.Leu815Ile)
c.2410C>A (p.Leu804Ile)
c.2455C>A (p.Leu819Ile)
17g.745601C>ACA497383811GEMIN4c.2442G>T (p.Gly814=)
c.2409G>T (p.Gly803=)
c.2454G>T (p.Gly818=)
17g.745601C>GCA497383812GEMIN4c.2442G>C (p.Gly814=)
c.2409G>C (p.Gly803=)
c.2454G>C (p.Gly818=)
17g.745601C>TCA497383813GEMIN4c.2442G>A (p.Gly814=)
c.2409G>A (p.Gly803=)
c.2454G>A (p.Gly818=)
 gnomAD v4
17g.745604delCA2635152745GEMIN4c.2442del (p.Leu815SerfsTer?)
c.2409del (p.Leu804SerfsTer?)
c.2454del (p.Leu819SerfsTer?)
 gnomAD v4
17g.745602C>ACA8262419GEMIN4c.2441G>T (p.Gly814Val)
c.2408G>T (p.Gly803Val)
c.2453G>T (p.Gly818Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745602C=CA2242474335GEMIN4c.2441G= (p.Gly814=)
c.2408G= (p.Gly803=)
c.2453G= (p.Gly818=)
17g.745602C>GCA397503809GEMIN4c.2441G>C (p.Gly814Ala)
c.2408G>C (p.Gly803Ala)
c.2453G>C (p.Gly818Ala)
17g.745602C>TCA8262418GEMIN4c.2441G>A (p.Gly814Glu)
c.2408G>A (p.Gly803Glu)
c.2453G>A (p.Gly818Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745603C>ACA397503811GEMIN4c.2440G>T (p.Gly814Trp)
c.2407G>T (p.Gly803Trp)
c.2452G>T (p.Gly818Trp)
17g.745603C>GCA397503812GEMIN4c.2440G>C (p.Gly814Arg)
c.2407G>C (p.Gly803Arg)
c.2452G>C (p.Gly818Arg)
17g.745603C>TCA397503810GEMIN4c.2440G>A (p.Gly814Arg)
c.2407G>A (p.Gly803Arg)
c.2452G>A (p.Gly818Arg)
 gnomAD v4
17g.745604C>ACA497383817GEMIN4c.2439G>T (p.Thr813=)
c.2406G>T (p.Thr802=)
c.2451G>T (p.Thr817=)
 gnomAD v4
17g.745604C=CA2242474336GEMIN4c.2439G= (p.Thr813=)
c.2406G= (p.Thr802=)
c.2451G= (p.Thr817=)
17g.745604C>GCA497383818GEMIN4c.2439G>C (p.Thr813=)
c.2406G>C (p.Thr802=)
c.2451G>C (p.Thr817=)
 gnomAD v4
17g.745604C>TCA8262420GEMIN4c.2439G>A (p.Thr813=)
c.2406G>A (p.Thr802=)
c.2451G>A (p.Thr817=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745605G>ACA8262421GEMIN4c.2438C>T (p.Thr813Met)
c.2405C>T (p.Thr802Met)
c.2450C>T (p.Thr817Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745605G>CCA397503814GEMIN4c.2438C>G (p.Thr813Arg)
c.2405C>G (p.Thr802Arg)
c.2450C>G (p.Thr817Arg)
17g.745605G=CA2242474337GEMIN4c.2438C= (p.Thr813=)
c.2405C= (p.Thr802=)
c.2450C= (p.Thr817=)
17g.745605G>TCA397503813GEMIN4c.2438C>A (p.Thr813Lys)
c.2405C>A (p.Thr802Lys)
c.2450C>A (p.Thr817Lys)
17g.745606T>ACA397503815GEMIN4c.2437A>T (p.Thr813Ser)
c.2404A>T (p.Thr802Ser)
c.2449A>T (p.Thr817Ser)
17g.745606T>CCA397503817GEMIN4c.2437A>G (p.Thr813Ala)
c.2404A>G (p.Thr802Ala)
c.2449A>G (p.Thr817Ala)
17g.745606T>GCA397503816GEMIN4c.2437A>C (p.Thr813Pro)
c.2404A>C (p.Thr802Pro)
c.2449A>C (p.Thr817Pro)
17g.745607G>ACA497383821GEMIN4c.2436C>T (p.Gly812=)
c.2403C>T (p.Gly801=)
c.2448C>T (p.Gly816=)
17g.745607G>CCA8262422GEMIN4c.2436C>G (p.Gly812=)
c.2403C>G (p.Gly801=)
c.2448C>G (p.Gly816=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745607G=CA2242474338GEMIN4c.2436C= (p.Gly812=)
c.2403C= (p.Gly801=)
c.2448C= (p.Gly816=)
17g.745607G>TCA497383822GEMIN4c.2436C>A (p.Gly812=)
c.2403C>A (p.Gly801=)
c.2448C>A (p.Gly816=)
17g.745608C>ACA397503818GEMIN4c.2435G>T (p.Gly812Val)
c.2402G>T (p.Gly801Val)
c.2447G>T (p.Gly816Val)
17g.745608C>GCA397503819GEMIN4c.2435G>C (p.Gly812Ala)
c.2402G>C (p.Gly801Ala)
c.2447G>C (p.Gly816Ala)
17g.745608C>TCA397503820GEMIN4c.2435G>A (p.Gly812Asp)
c.2402G>A (p.Gly801Asp)
c.2447G>A (p.Gly816Asp)
17g.745610_745620dupCA2635152767GEMIN4c.2425_2435dup (p.Leu816AlafsTer?)
c.2392_2402dup (p.Leu805AlafsTer?)
c.2437_2447dup (p.Leu820AlafsTer?)
 gnomAD v4

Number of alleles fetched