Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.745448_745459delCA2576107239GEMIN4c.2587_2598del (p.Trp863_Pro866del)
c.2554_2565del (p.Trp852_Pro855del)
c.2599_2610del (p.Trp867_Pro870del)
17g.745457_745473delCA2635152492GEMIN4c.2577_2593del (p.Val860ProfsTer25)
c.2544_2560del (p.Val849ProfsTer25)
c.2589_2605del (p.Val864ProfsTer25)
 gnomAD v4
17g.745458G>ACA397503424GEMIN4c.2585C>T (p.Pro862Leu)
c.2552C>T (p.Pro851Leu)
c.2597C>T (p.Pro866Leu)
17g.745458G>CCA397503425GEMIN4c.2585C>G (p.Pro862Arg)
c.2552C>G (p.Pro851Arg)
c.2597C>G (p.Pro866Arg)
17g.745458G>TCA397503426GEMIN4c.2585C>A (p.Pro862His)
c.2552C>A (p.Pro851His)
c.2597C>A (p.Pro866His)
17g.745459G>ACA397503429GEMIN4c.2584C>T (p.Pro862Ser)
c.2551C>T (p.Pro851Ser)
c.2596C>T (p.Pro866Ser)
17g.745459G>CCA397503428GEMIN4c.2584C>G (p.Pro862Ala)
c.2551C>G (p.Pro851Ala)
c.2596C>G (p.Pro866Ala)
17g.745459G>TCA397503427GEMIN4c.2584C>A (p.Pro862Thr)
c.2551C>A (p.Pro851Thr)
c.2596C>A (p.Pro866Thr)
17g.745460C>ACA397503430GEMIN4c.2583G>T (p.Met861Ile)
c.2550G>T (p.Met850Ile)
c.2595G>T (p.Met865Ile)
17g.745460C=CA2242474251GEMIN4c.2583G= (p.Met861=)
c.2550G= (p.Met850=)
c.2595G= (p.Met865=)
17g.745460C>GCA397503431GEMIN4c.2583G>C (p.Met861Ile)
c.2550G>C (p.Met850Ile)
c.2595G>C (p.Met865Ile)
17g.745460C>TCA397503432GEMIN4c.2583G>A (p.Met861Ile)
c.2550G>A (p.Met850Ile)
c.2595G>A (p.Met865Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.745461A>CCA397503433GEMIN4c.2582T>G (p.Met861Arg)
c.2549T>G (p.Met850Arg)
c.2594T>G (p.Met865Arg)
17g.745461A>GCA397503434GEMIN4c.2582T>C (p.Met861Thr)
c.2549T>C (p.Met850Thr)
c.2594T>C (p.Met865Thr)
17g.745461A>TCA397503435GEMIN4c.2582T>A (p.Met861Lys)
c.2549T>A (p.Met850Lys)
c.2594T>A (p.Met865Lys)
17g.745462T>ACA397503436GEMIN4c.2581A>T (p.Met861Leu)
c.2548A>T (p.Met850Leu)
c.2593A>T (p.Met865Leu)
 gnomAD v4
17g.745462T>CCA397503438GEMIN4c.2581A>G (p.Met861Val)
c.2548A>G (p.Met850Val)
c.2593A>G (p.Met865Val)
 gnomAD v4
17g.745462T>GCA397503437GEMIN4c.2581A>C (p.Met861Leu)
c.2548A>C (p.Met850Leu)
c.2593A>C (p.Met865Leu)
17g.745463G>ACA497383959GEMIN4c.2580C>T (p.Val860=)
c.2547C>T (p.Val849=)
c.2592C>T (p.Val864=)
17g.745463G>CCA497383962GEMIN4c.2580C>G (p.Val860=)
c.2547C>G (p.Val849=)
c.2592C>G (p.Val864=)
17g.745463G>TCA497383961GEMIN4c.2580C>A (p.Val860=)
c.2547C>A (p.Val849=)
c.2592C>A (p.Val864=)
17g.745464A=CA2242474252GEMIN4c.2579T= (p.Val860=)
c.2546T= (p.Val849=)
c.2591T= (p.Val864=)
17g.745464A>CCA397503439GEMIN4c.2579T>G (p.Val860Gly)
c.2546T>G (p.Val849Gly)
c.2591T>G (p.Val864Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.745464A>GCA397503440GEMIN4c.2579T>C (p.Val860Ala)
c.2546T>C (p.Val849Ala)
c.2591T>C (p.Val864Ala)
17g.745464A>TCA397503441GEMIN4c.2579T>A (p.Val860Asp)
c.2546T>A (p.Val849Asp)
c.2591T>A (p.Val864Asp)
17g.745465C>ACA397503442GEMIN4c.2578G>T (p.Val860Phe)
c.2545G>T (p.Val849Phe)
c.2590G>T (p.Val864Phe)
17g.745465C=CA2242474253GEMIN4c.2578G= (p.Val860=)
c.2545G= (p.Val849=)
c.2590G= (p.Val864=)
17g.745465C>GCA397503443GEMIN4c.2578G>C (p.Val860Leu)
c.2545G>C (p.Val849Leu)
c.2590G>C (p.Val864Leu)
17g.745465C>TCA397503444GEMIN4c.2578G>A (p.Val860Ile)
c.2545G>A (p.Val849Ile)
c.2590G>A (p.Val864Ile)
 dbSNP gnomAD v3 gnomAD v4
17g.745466T>ACA397503445GEMIN4c.2577A>T (p.Gln859His)
c.2544A>T (p.Gln848His)
c.2589A>T (p.Gln863His)
17g.745466T>CCA497383967GEMIN4c.2577A>G (p.Gln859=)
c.2544A>G (p.Gln848=)
c.2589A>G (p.Gln863=)
 gnomAD v3 gnomAD v4
17g.745466T>GCA397503446GEMIN4c.2577A>C (p.Gln859His)
c.2544A>C (p.Gln848His)
c.2589A>C (p.Gln863His)
17g.745467T>ACA397503447GEMIN4c.2576A>T (p.Gln859Leu)
c.2543A>T (p.Gln848Leu)
c.2588A>T (p.Gln863Leu)
17g.745467T>CCA397503448GEMIN4c.2576A>G (p.Gln859Arg)
c.2543A>G (p.Gln848Arg)
c.2588A>G (p.Gln863Arg)
17g.745467T>GCA397503449GEMIN4c.2576A>C (p.Gln859Pro)
c.2543A>C (p.Gln848Pro)
c.2588A>C (p.Gln863Pro)
17g.745468G>ACA397503451GEMIN4c.2575C>T (p.Gln859Ter)
c.2542C>T (p.Gln848Ter)
c.2587C>T (p.Gln863Ter)
17g.745468G>CCA397503452GEMIN4c.2575C>G (p.Gln859Glu)
c.2542C>G (p.Gln848Glu)
c.2587C>G (p.Gln863Glu)
17g.745468G>TCA397503450GEMIN4c.2575C>A (p.Gln859Lys)
c.2542C>A (p.Gln848Lys)
c.2587C>A (p.Gln863Lys)
 gnomAD v4
17g.745469C>ACA497383975GEMIN4c.2574G>T (p.Val858=)
c.2541G>T (p.Val847=)
c.2586G>T (p.Val862=)
17g.745469C>GCA497383976GEMIN4c.2574G>C (p.Val858=)
c.2541G>C (p.Val847=)
c.2586G>C (p.Val862=)
17g.745469C>TCA497383977GEMIN4c.2574G>A (p.Val858=)
c.2541G>A (p.Val847=)
c.2586G>A (p.Val862=)
 gnomAD v4
17g.745470A=CA2242474254GEMIN4c.2573T= (p.Val858=)
c.2540T= (p.Val847=)
c.2585T= (p.Val862=)
17g.745470A>CCA397503453GEMIN4c.2573T>G (p.Val858Gly)
c.2540T>G (p.Val847Gly)
c.2585T>G (p.Val862Gly)
17g.745470A>GCA397503455GEMIN4c.2573T>C (p.Val858Ala)
c.2540T>C (p.Val847Ala)
c.2585T>C (p.Val862Ala)
 dbSNP gnomAD v3 gnomAD v4
17g.745470A>TCA397503454GEMIN4c.2573T>A (p.Val858Glu)
c.2540T>A (p.Val847Glu)
c.2585T>A (p.Val862Glu)
17g.745471C>ACA397503456GEMIN4c.2572G>T (p.Val858Leu)
c.2539G>T (p.Val847Leu)
c.2584G>T (p.Val862Leu)
17g.745471C=CA2242474255GEMIN4c.2572G= (p.Val858=)
c.2539G= (p.Val847=)
c.2584G= (p.Val862=)
17g.745471C>GCA397503457GEMIN4c.2572G>C (p.Val858Leu)
c.2539G>C (p.Val847Leu)
c.2584G>C (p.Val862Leu)
17g.745471C>TCA397503458GEMIN4c.2572G>A (p.Val858Met)
c.2539G>A (p.Val847Met)
c.2584G>A (p.Val862Met)
 dbSNP gnomAD v2 gnomAD v4
17g.745472C>ACA497383984GEMIN4c.2571G>T (p.Leu857=)
c.2538G>T (p.Leu846=)
c.2583G>T (p.Leu861=)
17g.745472C>GCA497383985GEMIN4c.2571G>C (p.Leu857=)
c.2538G>C (p.Leu846=)
c.2583G>C (p.Leu861=)
17g.745472C>TCA497383986GEMIN4c.2571G>A (p.Leu857=)
c.2538G>A (p.Leu846=)
c.2583G>A (p.Leu861=)
17g.745473A=CA2242474256GEMIN4c.2570T= (p.Leu857=)
c.2537T= (p.Leu846=)
c.2582T= (p.Leu861=)
17g.745473A>CCA397503459GEMIN4c.2570T>G (p.Leu857Arg)
c.2537T>G (p.Leu846Arg)
c.2582T>G (p.Leu861Arg)
17g.745473A>GCA397503460GEMIN4c.2570T>C (p.Leu857Pro)
c.2537T>C (p.Leu846Pro)
c.2582T>C (p.Leu861Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.745473A>TCA397503461GEMIN4c.2570T>A (p.Leu857Gln)
c.2537T>A (p.Leu846Gln)
c.2582T>A (p.Leu861Gln)
17g.745474G>ACA497383988GEMIN4c.2569C>T (p.Leu857=)
c.2536C>T (p.Leu846=)
c.2581C>T (p.Leu861=)
17g.745474G>CCA397503462GEMIN4c.2569C>G (p.Leu857Val)
c.2536C>G (p.Leu846Val)
c.2581C>G (p.Leu861Val)
 ClinVar dbSNP gnomAD v4
17g.745474G=CA2242474257GEMIN4c.2569C= (p.Leu857=)
c.2536C= (p.Leu846=)
c.2581C= (p.Leu861=)
17g.745474G>TCA397503463GEMIN4c.2569C>A (p.Leu857Met)
c.2536C>A (p.Leu846Met)
c.2581C>A (p.Leu861Met)
17g.745475G>ACA497383991GEMIN4c.2568C>T (p.Ala856=)
c.2535C>T (p.Ala845=)
c.2580C>T (p.Ala860=)
17g.745475G>CCA497383992GEMIN4c.2568C>G (p.Ala856=)
c.2535C>G (p.Ala845=)
c.2580C>G (p.Ala860=)
17g.745475G>TCA497383995GEMIN4c.2568C>A (p.Ala856=)
c.2535C>A (p.Ala845=)
c.2580C>A (p.Ala860=)
17g.745476G>ACA397503464GEMIN4c.2567C>T (p.Ala856Val)
c.2534C>T (p.Ala845Val)
c.2579C>T (p.Ala860Val)
 gnomAD v4
17g.745476G>CCA397503465GEMIN4c.2567C>G (p.Ala856Gly)
c.2534C>G (p.Ala845Gly)
c.2579C>G (p.Ala860Gly)
17g.745476G>TCA397503466GEMIN4c.2567C>A (p.Ala856Asp)
c.2534C>A (p.Ala845Asp)
c.2579C>A (p.Ala860Asp)
17g.745477C>ACA397503469GEMIN4c.2566G>T (p.Ala856Ser)
c.2533G>T (p.Ala845Ser)
c.2578G>T (p.Ala860Ser)
17g.745477C>GCA397503468GEMIN4c.2566G>C (p.Ala856Pro)
c.2533G>C (p.Ala845Pro)
c.2578G>C (p.Ala860Pro)
17g.745477C>TCA397503467GEMIN4c.2566G>A (p.Ala856Thr)
c.2533G>A (p.Ala845Thr)
c.2578G>A (p.Ala860Thr)
17g.745478C>ACA497383999GEMIN4c.2565G>T (p.Val855=)
c.2532G>T (p.Val844=)
c.2577G>T (p.Val859=)
 gnomAD v4
17g.745478C=CA2242474258GEMIN4c.2565G= (p.Val855=)
c.2532G= (p.Val844=)
c.2577G= (p.Val859=)
17g.745478C>GCA497384000GEMIN4c.2565G>C (p.Val855=)
c.2532G>C (p.Val844=)
c.2577G>C (p.Val859=)
17g.745478C>TCA8262393GEMIN4c.2565G>A (p.Val855=)
c.2532G>A (p.Val844=)
c.2577G>A (p.Val859=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745479A=CA2242474260GEMIN4c.2564T= (p.Val855=)
c.2531T= (p.Val844=)
c.2576T= (p.Val859=)
17g.745479A>CCA397503470GEMIN4c.2564T>G (p.Val855Gly)
c.2531T>G (p.Val844Gly)
c.2576T>G (p.Val859Gly)
17g.745479A>GCA397503471GEMIN4c.2564T>C (p.Val855Ala)
c.2531T>C (p.Val844Ala)
c.2576T>C (p.Val859Ala)
 dbSNP gnomAD v3 gnomAD v4
17g.745479A>TCA397503472GEMIN4c.2564T>A (p.Val855Glu)
c.2531T>A (p.Val844Glu)
c.2576T>A (p.Val859Glu)
17g.745479_745480delinsACCA2242474259GEMIN4c.2563_2564delinsGT (p.Val855=)
c.2530_2531delinsGT (p.Val844=)
c.2575_2576delinsGT (p.Val859=)
17g.745480C>ACA397503473GEMIN4c.2563G>T (p.Val855Leu)
c.2530G>T (p.Val844Leu)
c.2575G>T (p.Val859Leu)
17g.745480C=CA2242474261GEMIN4c.2563G= (p.Val855=)
c.2530G= (p.Val844=)
c.2575G= (p.Val859=)
17g.745480C>GCA397503474GEMIN4c.2563G>C (p.Val855Leu)
c.2530G>C (p.Val844Leu)
c.2575G>C (p.Val859Leu)
 dbSNP gnomAD v4
17g.745480C>TCA397503475GEMIN4c.2563G>A (p.Val855Met)
c.2530G>A (p.Val844Met)
c.2575G>A (p.Val859Met)
 gnomAD v4
17g.745481delCA624456762GEMIN4c.2563del (p.Val855TrpfsTer21)
c.2530del (p.Val844TrpfsTer21)
c.2575del (p.Val859TrpfsTer21)
 dbSNP gnomAD v2 gnomAD v4
17g.745481C>ACA497384005GEMIN4c.2562G>T (p.Leu854=)
c.2529G>T (p.Leu843=)
c.2574G>T (p.Leu858=)
17g.745481C>GCA497384007GEMIN4c.2562G>C (p.Leu854=)
c.2529G>C (p.Leu843=)
c.2574G>C (p.Leu858=)
 gnomAD v4
17g.745481C>TCA497384011GEMIN4c.2562G>A (p.Leu854=)
c.2529G>A (p.Leu843=)
c.2574G>A (p.Leu858=)
17g.745482A>CCA397503476GEMIN4c.2561T>G (p.Leu854Arg)
c.2528T>G (p.Leu843Arg)
c.2573T>G (p.Leu858Arg)
17g.745482A>GCA397503477GEMIN4c.2561T>C (p.Leu854Pro)
c.2528T>C (p.Leu843Pro)
c.2573T>C (p.Leu858Pro)
17g.745482A>TCA397503478GEMIN4c.2561T>A (p.Leu854Gln)
c.2528T>A (p.Leu843Gln)
c.2573T>A (p.Leu858Gln)
17g.745483G>ACA497384015GEMIN4c.2560C>T (p.Leu854=)
c.2527C>T (p.Leu843=)
c.2572C>T (p.Leu858=)
17g.745483G>CCA397503479GEMIN4c.2560C>G (p.Leu854Val)
c.2527C>G (p.Leu843Val)
c.2572C>G (p.Leu858Val)
 dbSNP gnomAD v2 gnomAD v4
17g.745483G=CA2242474262GEMIN4c.2560C= (p.Leu854=)
c.2527C= (p.Leu843=)
c.2572C= (p.Leu858=)
17g.745483G>TCA397503480GEMIN4c.2560C>A (p.Leu854Met)
c.2527C>A (p.Leu843Met)
c.2572C>A (p.Leu858Met)
17g.745483_745484insTCA2242474263GEMIN4c.2559_2560insA (p.Leu854ThrfsTer?)
c.2526_2527insA (p.Leu843ThrfsTer?)
c.2571_2572insA (p.Leu858ThrfsTer?)
 dbSNP
17g.745484A=CA2242474264GEMIN4c.2559T= (p.Phe853=)
c.2526T= (p.Phe842=)
c.2571T= (p.Phe857=)
17g.745484A>CCA397503481GEMIN4c.2559T>G (p.Phe853Leu)
c.2526T>G (p.Phe842Leu)
c.2571T>G (p.Phe857Leu)
17g.745484A>GCA497384016GEMIN4c.2559T>C (p.Phe853=)
c.2526T>C (p.Phe842=)
c.2571T>C (p.Phe857=)
 gnomAD v3 gnomAD v4
17g.745484A>TCA397503482GEMIN4c.2559T>A (p.Phe853Leu)
c.2526T>A (p.Phe842Leu)
c.2571T>A (p.Phe857Leu)
 dbSNP
17g.745485A=CA2242474265GEMIN4c.2558T= (p.Phe853=)
c.2525T= (p.Phe842=)
c.2570T= (p.Phe857=)
17g.745485A>CCA397503483GEMIN4c.2558T>G (p.Phe853Cys)
c.2525T>G (p.Phe842Cys)
c.2570T>G (p.Phe857Cys)
 dbSNP
17g.745485A>GCA397503484GEMIN4c.2558T>C (p.Phe853Ser)
c.2525T>C (p.Phe842Ser)
c.2570T>C (p.Phe857Ser)
17g.745485A>TCA397503485GEMIN4c.2558T>A (p.Phe853Tyr)
c.2525T>A (p.Phe842Tyr)
c.2570T>A (p.Phe857Tyr)
17g.745486A=CA2242474266GEMIN4c.2557T= (p.Phe853=)
c.2524T= (p.Phe842=)
c.2569T= (p.Phe857=)
17g.745486A>CCA397503486GEMIN4c.2557T>G (p.Phe853Val)
c.2524T>G (p.Phe842Val)
c.2569T>G (p.Phe857Val)
17g.745486A>GCA397503487GEMIN4c.2557T>C (p.Phe853Leu)
c.2524T>C (p.Phe842Leu)
c.2569T>C (p.Phe857Leu)
 dbSNP
17g.745486A>TCA397503488GEMIN4c.2557T>A (p.Phe853Ile)
c.2524T>A (p.Phe842Ile)
c.2569T>A (p.Phe857Ile)
17g.745487G>ACA497384024GEMIN4c.2556C>T (p.Gly852=)
c.2523C>T (p.Gly841=)
c.2568C>T (p.Gly856=)
17g.745487G>CCA497384027GEMIN4c.2556C>G (p.Gly852=)
c.2523C>G (p.Gly841=)
c.2568C>G (p.Gly856=)
17g.745487G>TCA497384030GEMIN4c.2556C>A (p.Gly852=)
c.2523C>A (p.Gly841=)
c.2568C>A (p.Gly856=)
17g.745488C>ACA397503491GEMIN4c.2555G>T (p.Gly852Val)
c.2522G>T (p.Gly841Val)
c.2567G>T (p.Gly856Val)
 dbSNP
17g.745488C=CA2242474267GEMIN4c.2555G= (p.Gly852=)
c.2522G= (p.Gly841=)
c.2567G= (p.Gly856=)
17g.745488C>GCA397503489GEMIN4c.2555G>C (p.Gly852Ala)
c.2522G>C (p.Gly841Ala)
c.2567G>C (p.Gly856Ala)
17g.745488C>TCA397503490GEMIN4c.2555G>A (p.Gly852Asp)
c.2522G>A (p.Gly841Asp)
c.2567G>A (p.Gly856Asp)
 gnomAD v4
17g.745489C>ACA397503492GEMIN4c.2554G>T (p.Gly852Cys)
c.2521G>T (p.Gly841Cys)
c.2566G>T (p.Gly856Cys)
17g.745489C>GCA397503493GEMIN4c.2554G>C (p.Gly852Arg)
c.2521G>C (p.Gly841Arg)
c.2566G>C (p.Gly856Arg)
17g.745489C>TCA397503494GEMIN4c.2554G>A (p.Gly852Ser)
c.2521G>A (p.Gly841Ser)
c.2566G>A (p.Gly856Ser)
17g.745490T>ACA397503495GEMIN4c.2553A>T (p.Lys851Asn)
c.2520A>T (p.Lys840Asn)
c.2565A>T (p.Lys855Asn)
17g.745490T>CCA497384044GEMIN4c.2553A>G (p.Lys851=)
c.2520A>G (p.Lys840=)
c.2565A>G (p.Lys855=)
 dbSNP gnomAD v4
17g.745490T>GCA397503496GEMIN4c.2553A>C (p.Lys851Asn)
c.2520A>C (p.Lys840Asn)
c.2565A>C (p.Lys855Asn)
17g.745490T=CA2242474268GEMIN4c.2553A= (p.Lys851=)
c.2520A= (p.Lys840=)
c.2565A= (p.Lys855=)
17g.745491T>ACA397503497GEMIN4c.2552A>T (p.Lys851Ile)
c.2519A>T (p.Lys840Ile)
c.2564A>T (p.Lys855Ile)
17g.745491T>CCA397503499GEMIN4c.2552A>G (p.Lys851Arg)
c.2519A>G (p.Lys840Arg)
c.2564A>G (p.Lys855Arg)
 gnomAD v4
17g.745491T>GCA397503498GEMIN4c.2552A>C (p.Lys851Thr)
c.2519A>C (p.Lys840Thr)
c.2564A>C (p.Lys855Thr)
17g.745492T>ACA397503500GEMIN4c.2551A>T (p.Lys851Ter)
c.2518A>T (p.Lys840Ter)
c.2563A>T (p.Lys855Ter)
17g.745492T>CCA397503501GEMIN4c.2551A>G (p.Lys851Glu)
c.2518A>G (p.Lys840Glu)
c.2563A>G (p.Lys855Glu)
17g.745492T>GCA397503502GEMIN4c.2551A>C (p.Lys851Gln)
c.2518A>C (p.Lys840Gln)
c.2563A>C (p.Lys855Gln)
17g.745493G>ACA497384050GEMIN4c.2550C>T (p.Ser850=)
c.2517C>T (p.Ser839=)
c.2562C>T (p.Ser854=)
17g.745493G>CCA397503503GEMIN4c.2550C>G (p.Ser850Arg)
c.2517C>G (p.Ser839Arg)
c.2562C>G (p.Ser854Arg)
 dbSNP
17g.745493G=CA2242474269GEMIN4c.2550C= (p.Ser850=)
c.2517C= (p.Ser839=)
c.2562C= (p.Ser854=)
17g.745493G>TCA397503504GEMIN4c.2550C>A (p.Ser850Arg)
c.2517C>A (p.Ser839Arg)
c.2562C>A (p.Ser854Arg)
17g.745494C>ACA397503505GEMIN4c.2549G>T (p.Ser850Ile)
c.2516G>T (p.Ser839Ile)
c.2561G>T (p.Ser854Ile)
17g.745494C=CA2242474270GEMIN4c.2549G= (p.Ser850=)
c.2516G= (p.Ser839=)
c.2561G= (p.Ser854=)
17g.745494C>GCA397503506GEMIN4c.2549G>C (p.Ser850Thr)
c.2516G>C (p.Ser839Thr)
c.2561G>C (p.Ser854Thr)
17g.745494C>TCA397503507GEMIN4c.2549G>A (p.Ser850Asn)
c.2516G>A (p.Ser839Asn)
c.2561G>A (p.Ser854Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.745495T>ACA397503508GEMIN4c.2548A>T (p.Ser850Cys)
c.2515A>T (p.Ser839Cys)
c.2560A>T (p.Ser854Cys)
 gnomAD v4
17g.745495T>CCA397503509GEMIN4c.2548A>G (p.Ser850Gly)
c.2515A>G (p.Ser839Gly)
c.2560A>G (p.Ser854Gly)
17g.745495T>GCA397503510GEMIN4c.2548A>C (p.Ser850Arg)
c.2515A>C (p.Ser839Arg)
c.2560A>C (p.Ser854Arg)
17g.745496G>ACA497384060GEMIN4c.2547C>T (p.Phe849=)
c.2514C>T (p.Phe838=)
c.2559C>T (p.Phe853=)
17g.745496G>CCA397503512GEMIN4c.2547C>G (p.Phe849Leu)
c.2514C>G (p.Phe838Leu)
c.2559C>G (p.Phe853Leu)
17g.745496G>TCA397503511GEMIN4c.2547C>A (p.Phe849Leu)
c.2514C>A (p.Phe838Leu)
c.2559C>A (p.Phe853Leu)
17g.745496_745497delinsGACA2242474271GEMIN4c.2546_2547delinsTC (p.Phe849=)
c.2513_2514delinsTC (p.Phe838=)
c.2558_2559delinsTC (p.Phe853=)
17g.745497A>CCA397503513GEMIN4c.2546T>G (p.Phe849Cys)
c.2513T>G (p.Phe838Cys)
c.2558T>G (p.Phe853Cys)
17g.745497A>GCA397503515GEMIN4c.2546T>C (p.Phe849Ser)
c.2513T>C (p.Phe838Ser)
c.2558T>C (p.Phe853Ser)
17g.745497A>TCA397503514GEMIN4c.2546T>A (p.Phe849Tyr)
c.2513T>A (p.Phe838Tyr)
c.2558T>A (p.Phe853Tyr)
17g.745498delCA2242474273GEMIN4c.2546del (p.Phe849SerfsTer27)
c.2513del (p.Phe838SerfsTer27)
c.2558del (p.Phe853SerfsTer27)
17g.745497_745499delinsAACCA2242474272GEMIN4c.2544_2546delinsGTT (p.Leu848=)
c.2511_2513delinsGTT (p.Leu837=)
c.2556_2558delinsGTT (p.Leu852=)
17g.745498A>CCA397503516GEMIN4c.2545T>G (p.Phe849Val)
c.2512T>G (p.Phe838Val)
c.2557T>G (p.Phe853Val)
17g.745498A>GCA397503517GEMIN4c.2545T>C (p.Phe849Leu)
c.2512T>C (p.Phe838Leu)
c.2557T>C (p.Phe853Leu)
17g.745498A>TCA397503518GEMIN4c.2545T>A (p.Phe849Ile)
c.2512T>A (p.Phe838Ile)
c.2557T>A (p.Phe853Ile)
17g.745499_745500delCA624456763GEMIN4c.2544_2545del (p.Phe849GlnfsTer?)
c.2511_2512del (p.Phe838GlnfsTer?)
c.2556_2557del (p.Phe853GlnfsTer?)
 dbSNP gnomAD v2
17g.745499C>ACA497384067GEMIN4c.2544G>T (p.Leu848=)
c.2511G>T (p.Leu837=)
c.2556G>T (p.Leu852=)
17g.745499C>GCA497384068GEMIN4c.2544G>C (p.Leu848=)
c.2511G>C (p.Leu837=)
c.2556G>C (p.Leu852=)
17g.745499C>TCA497384070GEMIN4c.2544G>A (p.Leu848=)
c.2511G>A (p.Leu837=)
c.2556G>A (p.Leu852=)
17g.745500A=CA2242474274GEMIN4c.2543T= (p.Leu848=)
c.2510T= (p.Leu837=)
c.2555T= (p.Leu852=)
17g.745500A>CCA397503519GEMIN4c.2543T>G (p.Leu848Arg)
c.2510T>G (p.Leu837Arg)
c.2555T>G (p.Leu852Arg)
17g.745500A>GCA397503520GEMIN4c.2543T>C (p.Leu848Pro)
c.2510T>C (p.Leu837Pro)
c.2555T>C (p.Leu852Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745500A>TCA397503521GEMIN4c.2543T>A (p.Leu848Gln)
c.2510T>A (p.Leu837Gln)
c.2555T>A (p.Leu852Gln)
17g.745501G>ACA497384072GEMIN4c.2542C>T (p.Leu848=)
c.2509C>T (p.Leu837=)
c.2554C>T (p.Leu852=)
17g.745501G>CCA397503523GEMIN4c.2542C>G (p.Leu848Val)
c.2509C>G (p.Leu837Val)
c.2554C>G (p.Leu852Val)
17g.745501G>TCA397503524GEMIN4c.2542C>A (p.Leu848Met)
c.2509C>A (p.Leu837Met)
c.2554C>A (p.Leu852Met)
 gnomAD v4
17g.745502T>ACA397503527GEMIN4c.2541A>T (p.Arg847Ser)
c.2508A>T (p.Arg836Ser)
c.2553A>T (p.Arg851Ser)
17g.745502T>CCA497384078GEMIN4c.2541A>G (p.Arg847=)
c.2508A>G (p.Arg836=)
c.2553A>G (p.Arg851=)
17g.745502T>GCA397503528GEMIN4c.2541A>C (p.Arg847Ser)
c.2508A>C (p.Arg836Ser)
c.2553A>C (p.Arg851Ser)
17g.745503C>ACA397503531GEMIN4c.2540G>T (p.Arg847Ile)
c.2507G>T (p.Arg836Ile)
c.2552G>T (p.Arg851Ile)
 gnomAD v4
17g.745503C>GCA397503533GEMIN4c.2540G>C (p.Arg847Thr)
c.2507G>C (p.Arg836Thr)
c.2552G>C (p.Arg851Thr)
17g.745503C>TCA397503534GEMIN4c.2540G>A (p.Arg847Lys)
c.2507G>A (p.Arg836Lys)
c.2552G>A (p.Arg851Lys)
17g.745504T>ACA397503536GEMIN4c.2539A>T (p.Arg847Ter)
c.2506A>T (p.Arg836Ter)
c.2551A>T (p.Arg851Ter)
17g.745504T>CCA397503538GEMIN4c.2539A>G (p.Arg847Gly)
c.2506A>G (p.Arg836Gly)
c.2551A>G (p.Arg851Gly)
17g.745504T>GCA8262394GEMIN4c.2539A>C (p.Arg847=)
c.2506A>C (p.Arg836=)
c.2551A>C (p.Arg851=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745504T=CA2242474275GEMIN4c.2539A= (p.Arg847=)
c.2506A= (p.Arg836=)
c.2551A= (p.Arg851=)
17g.745505G>ACA497384082GEMIN4c.2538C>T (p.Val846=)
c.2505C>T (p.Val835=)
c.2550C>T (p.Val850=)
 gnomAD v4
17g.745505G>CCA497384084GEMIN4c.2538C>G (p.Val846=)
c.2505C>G (p.Val835=)
c.2550C>G (p.Val850=)
17g.745505G>TCA497384085GEMIN4c.2538C>A (p.Val846=)
c.2505C>A (p.Val835=)
c.2550C>A (p.Val850=)
17g.745506A>CCA397503542GEMIN4c.2537T>G (p.Val846Gly)
c.2504T>G (p.Val835Gly)
c.2549T>G (p.Val850Gly)
17g.745506A>GCA397503544GEMIN4c.2537T>C (p.Val846Ala)
c.2504T>C (p.Val835Ala)
c.2549T>C (p.Val850Ala)
 gnomAD v4
17g.745506A>TCA397503543GEMIN4c.2537T>A (p.Val846Asp)
c.2504T>A (p.Val835Asp)
c.2549T>A (p.Val850Asp)
17g.745506_745507delinsACCA2242474277GEMIN4c.2536_2537delinsGT (p.Val846=)
c.2503_2504delinsGT (p.Val835=)
c.2548_2549delinsGT (p.Val850=)
17g.745506_745509delinsACCTCA2242474276GEMIN4c.2534_2537delinsAGGT (p.Glu845=)
c.2501_2504delinsAGGT (p.Glu834=)
c.2546_2549delinsAGGT (p.Glu849=)
17g.745507C>ACA397503547GEMIN4c.2536G>T (p.Val846Phe)
c.2503G>T (p.Val835Phe)
c.2548G>T (p.Val850Phe)
17g.745507C=CA2242474279GEMIN4c.2536G= (p.Val846=)
c.2503G= (p.Val835=)
c.2548G= (p.Val850=)
17g.745507C>GCA397503549GEMIN4c.2536G>C (p.Val846Leu)
c.2503G>C (p.Val835Leu)
c.2548G>C (p.Val850Leu)
17g.745507C>TCA8262396GEMIN4c.2536G>A (p.Val846Ile)
c.2503G>A (p.Val835Ile)
c.2548G>A (p.Val850Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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)

Number of alleles fetched