Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.745374C>ACA397503243GEMIN4c.2669G>T (p.Ser890Ile)
c.2636G>T (p.Ser879Ile)
c.2681G>T (p.Ser894Ile)
17g.745374C=CA2242474218GEMIN4c.2669G= (p.Ser890=)
c.2636G= (p.Ser879=)
c.2681G= (p.Ser894=)
17g.745374C>GCA397503242GEMIN4c.2669G>C (p.Ser890Thr)
c.2636G>C (p.Ser879Thr)
c.2681G>C (p.Ser894Thr)
17g.745374C>TCA397503241GEMIN4c.2669G>A (p.Ser890Asn)
c.2636G>A (p.Ser879Asn)
c.2681G>A (p.Ser894Asn)
 dbSNP gnomAD v4
17g.745375T>ACA397503244GEMIN4c.2668A>T (p.Ser890Cys)
c.2635A>T (p.Ser879Cys)
c.2680A>T (p.Ser894Cys)
17g.745375T>CCA397503245GEMIN4c.2668A>G (p.Ser890Gly)
c.2635A>G (p.Ser879Gly)
c.2680A>G (p.Ser894Gly)
17g.745375T>GCA397503246GEMIN4c.2668A>C (p.Ser890Arg)
c.2635A>C (p.Ser879Arg)
c.2680A>C (p.Ser894Arg)
17g.745376A>CCA397503247GEMIN4c.2667T>G (p.Tyr889Ter)
c.2634T>G (p.Tyr878Ter)
c.2679T>G (p.Tyr893Ter)
17g.745376A>GCA497383753GEMIN4c.2667T>C (p.Tyr889=)
c.2634T>C (p.Tyr878=)
c.2679T>C (p.Tyr893=)
 gnomAD v4
17g.745376A>TCA397503248GEMIN4c.2667T>A (p.Tyr889Ter)
c.2634T>A (p.Tyr878Ter)
c.2679T>A (p.Tyr893Ter)
17g.745377T>ACA397503251GEMIN4c.2666A>T (p.Tyr889Phe)
c.2633A>T (p.Tyr878Phe)
c.2678A>T (p.Tyr893Phe)
17g.745377T>CCA397503250GEMIN4c.2666A>G (p.Tyr889Cys)
c.2633A>G (p.Tyr878Cys)
c.2678A>G (p.Tyr893Cys)
 dbSNP gnomAD v4
17g.745377T>GCA397503249GEMIN4c.2666A>C (p.Tyr889Ser)
c.2633A>C (p.Tyr878Ser)
c.2678A>C (p.Tyr893Ser)
17g.745377T=CA2242474219GEMIN4c.2666A= (p.Tyr889=)
c.2633A= (p.Tyr878=)
c.2678A= (p.Tyr893=)
17g.745378A=CA2242474220GEMIN4c.2665T= (p.Tyr889=)
c.2632T= (p.Tyr878=)
c.2677T= (p.Tyr893=)
17g.745378A>CCA397503252GEMIN4c.2665T>G (p.Tyr889Asp)
c.2632T>G (p.Tyr878Asp)
c.2677T>G (p.Tyr893Asp)
17g.745378A>GCA8262379GEMIN4c.2665T>C (p.Tyr889His)
c.2632T>C (p.Tyr878His)
c.2677T>C (p.Tyr893His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745378A>TCA397503253GEMIN4c.2665T>A (p.Tyr889Asn)
c.2632T>A (p.Tyr878Asn)
c.2677T>A (p.Tyr893Asn)
17g.745379A>CCA497383761GEMIN4c.2664T>G (p.Pro888=)
c.2631T>G (p.Pro877=)
c.2676T>G (p.Pro892=)
17g.745379A>GCA497383762GEMIN4c.2664T>C (p.Pro888=)
c.2631T>C (p.Pro877=)
c.2676T>C (p.Pro892=)
 dbSNP
17g.745379A>TCA497383763GEMIN4c.2664T>A (p.Pro888=)
c.2631T>A (p.Pro877=)
c.2676T>A (p.Pro892=)
17g.745380G>ACA8262380GEMIN4c.2663C>T (p.Pro888Leu)
c.2630C>T (p.Pro877Leu)
c.2675C>T (p.Pro892Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745380G>CCA397503254GEMIN4c.2663C>G (p.Pro888Arg)
c.2630C>G (p.Pro877Arg)
c.2675C>G (p.Pro892Arg)
 dbSNP gnomAD v3 gnomAD v4
17g.745380G=CA2242474221GEMIN4c.2663C= (p.Pro888=)
c.2630C= (p.Pro877=)
c.2675C= (p.Pro892=)
17g.745380G>TCA397503255GEMIN4c.2663C>A (p.Pro888His)
c.2630C>A (p.Pro877His)
c.2675C>A (p.Pro892His)
17g.745381G>ACA397503256GEMIN4c.2662C>T (p.Pro888Ser)
c.2629C>T (p.Pro877Ser)
c.2674C>T (p.Pro892Ser)
17g.745381G>CCA397503258GEMIN4c.2662C>G (p.Pro888Ala)
c.2629C>G (p.Pro877Ala)
c.2674C>G (p.Pro892Ala)
17g.745381G>TCA397503257GEMIN4c.2662C>A (p.Pro888Thr)
c.2629C>A (p.Pro877Thr)
c.2674C>A (p.Pro892Thr)
17g.745382G>ACA497383766GEMIN4c.2661C>T (p.Val887=)
c.2628C>T (p.Val876=)
c.2673C>T (p.Val891=)
 gnomAD v4
17g.745382G>CCA497383767GEMIN4c.2661C>G (p.Val887=)
c.2628C>G (p.Val876=)
c.2673C>G (p.Val891=)
17g.745382G=CA2242474222GEMIN4c.2661C= (p.Val887=)
c.2628C= (p.Val876=)
c.2673C= (p.Val891=)
17g.745382G>TCA286713642GEMIN4c.2661C>A (p.Val887=)
c.2628C>A (p.Val876=)
c.2673C>A (p.Val891=)
 dbSNP
17g.745383A>CCA397503259GEMIN4c.2660T>G (p.Val887Gly)
c.2627T>G (p.Val876Gly)
c.2672T>G (p.Val891Gly)
17g.745383A>GCA397503260GEMIN4c.2660T>C (p.Val887Ala)
c.2627T>C (p.Val876Ala)
c.2672T>C (p.Val891Ala)
 gnomAD v4
17g.745383A>TCA397503261GEMIN4c.2660T>A (p.Val887Asp)
c.2627T>A (p.Val876Asp)
c.2672T>A (p.Val891Asp)
17g.745384C>ACA397503262GEMIN4c.2659G>T (p.Val887Phe)
c.2626G>T (p.Val876Phe)
c.2671G>T (p.Val891Phe)
17g.745384C>GCA397503263GEMIN4c.2659G>C (p.Val887Leu)
c.2626G>C (p.Val876Leu)
c.2671G>C (p.Val891Leu)
17g.745384C>TCA397503264GEMIN4c.2659G>A (p.Val887Ile)
c.2626G>A (p.Val876Ile)
c.2671G>A (p.Val891Ile)
17g.745385A>CCA397503265GEMIN4c.2658T>G (p.His886Gln)
c.2625T>G (p.His875Gln)
c.2670T>G (p.His890Gln)
17g.745385A>GCA497383770GEMIN4c.2658T>C (p.His886=)
c.2625T>C (p.His875=)
c.2670T>C (p.His890=)
17g.745385A>TCA397503266GEMIN4c.2658T>A (p.His886Gln)
c.2625T>A (p.His875Gln)
c.2670T>A (p.His890Gln)
17g.745385_745386delinsATCA2242474223GEMIN4c.2657_2658delinsAT (p.His886=)
c.2624_2625delinsAT (p.His875=)
c.2669_2670delinsAT (p.His890=)
17g.745386delCA8262381GEMIN4c.2657del (p.His886LeufsTer17)
c.2624del (p.His875LeufsTer17)
c.2669del (p.His890LeufsTer17)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745386T>ACA397503267GEMIN4c.2657A>T (p.His886Leu)
c.2624A>T (p.His875Leu)
c.2669A>T (p.His890Leu)
17g.745386T>CCA8262382GEMIN4c.2657A>G (p.His886Arg)
c.2624A>G (p.His875Arg)
c.2669A>G (p.His890Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745386T>GCA397503268GEMIN4c.2657A>C (p.His886Pro)
c.2624A>C (p.His875Pro)
c.2669A>C (p.His890Pro)
17g.745386T=CA2242474224GEMIN4c.2657A= (p.His886=)
c.2624A= (p.His875=)
c.2669A= (p.His890=)
17g.745387G>ACA397503270GEMIN4c.2656C>T (p.His886Tyr)
c.2623C>T (p.His875Tyr)
c.2668C>T (p.His890Tyr)
17g.745387G>CCA397503271GEMIN4c.2656C>G (p.His886Asp)
c.2623C>G (p.His875Asp)
c.2668C>G (p.His890Asp)
17g.745387G>TCA397503269GEMIN4c.2656C>A (p.His886Asn)
c.2623C>A (p.His875Asn)
c.2668C>A (p.His890Asn)
17g.745388G>ACA497383777GEMIN4c.2655C>T (p.Leu885=)
c.2622C>T (p.Leu874=)
c.2667C>T (p.Leu889=)
 dbSNP
17g.745388G>CCA497383778GEMIN4c.2655C>G (p.Leu885=)
c.2622C>G (p.Leu874=)
c.2667C>G (p.Leu889=)
17g.745388G=CA2242474225GEMIN4c.2655C= (p.Leu885=)
c.2622C= (p.Leu874=)
c.2667C= (p.Leu889=)
17g.745388G>TCA497383776GEMIN4c.2655C>A (p.Leu885=)
c.2622C>A (p.Leu874=)
c.2667C>A (p.Leu889=)
17g.745389A>CCA397503273GEMIN4c.2654T>G (p.Leu885Arg)
c.2621T>G (p.Leu874Arg)
c.2666T>G (p.Leu889Arg)
17g.745389A>GCA397503272GEMIN4c.2654T>C (p.Leu885Pro)
c.2621T>C (p.Leu874Pro)
c.2666T>C (p.Leu889Pro)
17g.745389A>TCA397503274GEMIN4c.2654T>A (p.Leu885His)
c.2621T>A (p.Leu874His)
c.2666T>A (p.Leu889His)
17g.745390G>ACA286713643GEMIN4c.2653C>T (p.Leu885Phe)
c.2620C>T (p.Leu874Phe)
c.2665C>T (p.Leu889Phe)
 dbSNP gnomAD v2 gnomAD v4
17g.745390G>CCA397503276GEMIN4c.2653C>G (p.Leu885Val)
c.2620C>G (p.Leu874Val)
c.2665C>G (p.Leu889Val)
17g.745390G=CA2242474226GEMIN4c.2653C= (p.Leu885=)
c.2620C= (p.Leu874=)
c.2665C= (p.Leu889=)
17g.745390G>TCA397503275GEMIN4c.2653C>A (p.Leu885Ile)
c.2620C>A (p.Leu874Ile)
c.2665C>A (p.Leu889Ile)
17g.745391G>ACA497383784GEMIN4c.2652C>T (p.Leu884=)
c.2619C>T (p.Leu873=)
c.2664C>T (p.Leu888=)
17g.745391G>CCA497383782GEMIN4c.2652C>G (p.Leu884=)
c.2619C>G (p.Leu873=)
c.2664C>G (p.Leu888=)
17g.745391G>TCA497383783GEMIN4c.2652C>A (p.Leu884=)
c.2619C>A (p.Leu873=)
c.2664C>A (p.Leu888=)
17g.745392A=CA2242474227GEMIN4c.2651T= (p.Leu884=)
c.2618T= (p.Leu873=)
c.2663T= (p.Leu888=)
17g.745392A>CCA397503277GEMIN4c.2651T>G (p.Leu884Arg)
c.2618T>G (p.Leu873Arg)
c.2663T>G (p.Leu888Arg)
 gnomAD v4
17g.745392A>GCA8262383GEMIN4c.2651T>C (p.Leu884Pro)
c.2618T>C (p.Leu873Pro)
c.2663T>C (p.Leu888Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745392A>TCA397503278GEMIN4c.2651T>A (p.Leu884His)
c.2618T>A (p.Leu873His)
c.2663T>A (p.Leu888His)
17g.745393G>ACA397503279GEMIN4c.2650C>T (p.Leu884Phe)
c.2617C>T (p.Leu873Phe)
c.2662C>T (p.Leu888Phe)
 gnomAD v4
17g.745393G>CCA397503281GEMIN4c.2650C>G (p.Leu884Val)
c.2617C>G (p.Leu873Val)
c.2662C>G (p.Leu888Val)
 gnomAD v4
17g.745393G>TCA397503280GEMIN4c.2650C>A (p.Leu884Ile)
c.2617C>A (p.Leu873Ile)
c.2662C>A (p.Leu888Ile)
17g.745394C>ACA397503282GEMIN4c.2649G>T (p.Gln883His)
c.2616G>T (p.Gln872His)
c.2661G>T (p.Gln887His)
17g.745394C>GCA397503283GEMIN4c.2649G>C (p.Gln883His)
c.2616G>C (p.Gln872His)
c.2661G>C (p.Gln887His)
 ClinVar gnomAD v4
17g.745394C>TCA497383794GEMIN4c.2649G>A (p.Gln883=)
c.2616G>A (p.Gln872=)
c.2661G>A (p.Gln887=)
17g.745395T>ACA397503284GEMIN4c.2648A>T (p.Gln883Leu)
c.2615A>T (p.Gln872Leu)
c.2660A>T (p.Gln887Leu)
 gnomAD v4
17g.745395T>CCA397503285GEMIN4c.2648A>G (p.Gln883Arg)
c.2615A>G (p.Gln872Arg)
c.2660A>G (p.Gln887Arg)
17g.745395T>GCA397503286GEMIN4c.2648A>C (p.Gln883Pro)
c.2615A>C (p.Gln872Pro)
c.2660A>C (p.Gln887Pro)
17g.745396G>ACA397503287GEMIN4c.2647C>T (p.Gln883Ter)
c.2614C>T (p.Gln872Ter)
c.2659C>T (p.Gln887Ter)
17g.745396G>CCA397503288GEMIN4c.2647C>G (p.Gln883Glu)
c.2614C>G (p.Gln872Glu)
c.2659C>G (p.Gln887Glu)
17g.745396G>TCA397503289GEMIN4c.2647C>A (p.Gln883Lys)
c.2614C>A (p.Gln872Lys)
c.2659C>A (p.Gln887Lys)
17g.745397C>ACA397503290GEMIN4c.2646G>T (p.Lys882Asn)
c.2613G>T (p.Lys871Asn)
c.2658G>T (p.Lys886Asn)
17g.745397C>GCA397503291GEMIN4c.2646G>C (p.Lys882Asn)
c.2613G>C (p.Lys871Asn)
c.2658G>C (p.Lys886Asn)
 gnomAD v4
17g.745397C>TCA497383807GEMIN4c.2646G>A (p.Lys882=)
c.2613G>A (p.Lys871=)
c.2658G>A (p.Lys886=)
17g.745398T>ACA397503294GEMIN4c.2645A>T (p.Lys882Met)
c.2612A>T (p.Lys871Met)
c.2657A>T (p.Lys886Met)
17g.745398T>CCA397503293GEMIN4c.2645A>G (p.Lys882Arg)
c.2612A>G (p.Lys871Arg)
c.2657A>G (p.Lys886Arg)
17g.745398T>GCA397503292GEMIN4c.2645A>C (p.Lys882Thr)
c.2612A>C (p.Lys871Thr)
c.2657A>C (p.Lys886Thr)
17g.745399T>ACA397503295GEMIN4c.2644A>T (p.Lys882Ter)
c.2611A>T (p.Lys871Ter)
c.2656A>T (p.Lys886Ter)
17g.745399T>CCA397503296GEMIN4c.2644A>G (p.Lys882Glu)
c.2611A>G (p.Lys871Glu)
c.2656A>G (p.Lys886Glu)
17g.745399T>GCA397503297GEMIN4c.2644A>C (p.Lys882Gln)
c.2611A>C (p.Lys871Gln)
c.2656A>C (p.Lys886Gln)
17g.745400C>ACA397503298GEMIN4c.2643G>T (p.Glu881Asp)
c.2610G>T (p.Glu870Asp)
c.2655G>T (p.Glu885Asp)
17g.745400C>GCA397503299GEMIN4c.2643G>C (p.Glu881Asp)
c.2610G>C (p.Glu870Asp)
c.2655G>C (p.Glu885Asp)
17g.745400C>TCA497383816GEMIN4c.2643G>A (p.Glu881=)
c.2610G>A (p.Glu870=)
c.2655G>A (p.Glu885=)
 gnomAD v4
17g.745401T>ACA397503300GEMIN4c.2642A>T (p.Glu881Val)
c.2609A>T (p.Glu870Val)
c.2654A>T (p.Glu885Val)
 gnomAD v4
17g.745401T>CCA397503301GEMIN4c.2642A>G (p.Glu881Gly)
c.2609A>G (p.Glu870Gly)
c.2654A>G (p.Glu885Gly)
17g.745401T>GCA397503302GEMIN4c.2642A>C (p.Glu881Ala)
c.2609A>C (p.Glu870Ala)
c.2654A>C (p.Glu885Ala)
17g.745402C>ACA397503303GEMIN4c.2641G>T (p.Glu881Ter)
c.2608G>T (p.Glu870Ter)
c.2653G>T (p.Glu885Ter)
 gnomAD v4
17g.745402C>GCA397503304GEMIN4c.2641G>C (p.Glu881Gln)
c.2608G>C (p.Glu870Gln)
c.2653G>C (p.Glu885Gln)
17g.745402C>TCA397503305GEMIN4c.2641G>A (p.Glu881Lys)
c.2608G>A (p.Glu870Lys)
c.2653G>A (p.Glu885Lys)
17g.745403C>ACA497383823GEMIN4c.2640G>T (p.Leu880=)
c.2607G>T (p.Leu869=)
c.2652G>T (p.Leu884=)
17g.745403C>GCA497383824GEMIN4c.2640G>C (p.Leu880=)
c.2607G>C (p.Leu869=)
c.2652G>C (p.Leu884=)
17g.745403C>TCA497383825GEMIN4c.2640G>A (p.Leu880=)
c.2607G>A (p.Leu869=)
c.2652G>A (p.Leu884=)
17g.745404A>CCA397503307GEMIN4c.2639T>G (p.Leu880Arg)
c.2606T>G (p.Leu869Arg)
c.2651T>G (p.Leu884Arg)
17g.745404A>GCA397503308GEMIN4c.2639T>C (p.Leu880Pro)
c.2606T>C (p.Leu869Pro)
c.2651T>C (p.Leu884Pro)
17g.745404A>TCA397503306GEMIN4c.2639T>A (p.Leu880Gln)
c.2606T>A (p.Leu869Gln)
c.2651T>A (p.Leu884Gln)
17g.745405G>ACA497383830GEMIN4c.2638C>T (p.Leu880=)
c.2605C>T (p.Leu869=)
c.2650C>T (p.Leu884=)
 dbSNP gnomAD v2 gnomAD v4
17g.745405G>CCA397503309GEMIN4c.2638C>G (p.Leu880Val)
c.2605C>G (p.Leu869Val)
c.2650C>G (p.Leu884Val)
17g.745405G=CA2242474228GEMIN4c.2638C= (p.Leu880=)
c.2605C= (p.Leu869=)
c.2650C= (p.Leu884=)
17g.745405G>TCA397503310GEMIN4c.2638C>A (p.Leu880Met)
c.2605C>A (p.Leu869Met)
c.2650C>A (p.Leu884Met)
17g.745406C>ACA497383835GEMIN4c.2637G>T (p.Leu879=)
c.2604G>T (p.Leu868=)
c.2649G>T (p.Leu883=)
17g.745406C>GCA497383836GEMIN4c.2637G>C (p.Leu879=)
c.2604G>C (p.Leu868=)
c.2649G>C (p.Leu883=)
 gnomAD v4
17g.745406C>TCA497383834GEMIN4c.2637G>A (p.Leu879=)
c.2604G>A (p.Leu868=)
c.2649G>A (p.Leu883=)
17g.745407A>CCA397503311GEMIN4c.2636T>G (p.Leu879Arg)
c.2603T>G (p.Leu868Arg)
c.2648T>G (p.Leu883Arg)
 gnomAD v4
17g.745407A>GCA397503312GEMIN4c.2636T>C (p.Leu879Pro)
c.2603T>C (p.Leu868Pro)
c.2648T>C (p.Leu883Pro)
17g.745407A>TCA397503313GEMIN4c.2636T>A (p.Leu879Gln)
c.2603T>A (p.Leu868Gln)
c.2648T>A (p.Leu883Gln)
17g.745408G>ACA497383840GEMIN4c.2635C>T (p.Leu879=)
c.2602C>T (p.Leu868=)
c.2647C>T (p.Leu883=)
 gnomAD v4
17g.745408G>CCA397503314GEMIN4c.2635C>G (p.Leu879Val)
c.2602C>G (p.Leu868Val)
c.2647C>G (p.Leu883Val)
 gnomAD v4
17g.745408G>TCA397503315GEMIN4c.2635C>A (p.Leu879Met)
c.2602C>A (p.Leu868Met)
c.2647C>A (p.Leu883Met)
17g.745409T>ACA397503316GEMIN4c.2634A>T (p.Arg878Ser)
c.2601A>T (p.Arg867Ser)
c.2646A>T (p.Arg882Ser)
17g.745409T>CCA497383844GEMIN4c.2634A>G (p.Arg878=)
c.2601A>G (p.Arg867=)
c.2646A>G (p.Arg882=)
17g.745409T>GCA397503317GEMIN4c.2634A>C (p.Arg878Ser)
c.2601A>C (p.Arg867Ser)
c.2646A>C (p.Arg882Ser)
17g.745410C>ACA397503318GEMIN4c.2633G>T (p.Arg878Ile)
c.2600G>T (p.Arg867Ile)
c.2645G>T (p.Arg882Ile)
17g.745410C>GCA397503319GEMIN4c.2633G>C (p.Arg878Thr)
c.2600G>C (p.Arg867Thr)
c.2645G>C (p.Arg882Thr)
17g.745410C>TCA397503320GEMIN4c.2633G>A (p.Arg878Lys)
c.2600G>A (p.Arg867Lys)
c.2645G>A (p.Arg882Lys)
17g.745411T>ACA397503322GEMIN4c.2632A>T (p.Arg878Ter)
c.2599A>T (p.Arg867Ter)
c.2644A>T (p.Arg882Ter)
17g.745411T>CCA397503321GEMIN4c.2632A>G (p.Arg878Gly)
c.2599A>G (p.Arg867Gly)
c.2644A>G (p.Arg882Gly)
17g.745411T>GCA497383851GEMIN4c.2632A>C (p.Arg878=)
c.2599A>C (p.Arg867=)
c.2644A>C (p.Arg882=)
17g.745412C>ACA397503323GEMIN4c.2631G>T (p.Arg877Ser)
c.2598G>T (p.Arg866Ser)
c.2643G>T (p.Arg881Ser)
 gnomAD v4
17g.745412C>GCA397503324GEMIN4c.2631G>C (p.Arg877Ser)
c.2598G>C (p.Arg866Ser)
c.2643G>C (p.Arg881Ser)
17g.745412C>TCA497383857GEMIN4c.2631G>A (p.Arg877=)
c.2598G>A (p.Arg866=)
c.2643G>A (p.Arg881=)
17g.745413C>ACA397503325GEMIN4c.2630G>T (p.Arg877Met)
c.2597G>T (p.Arg866Met)
c.2642G>T (p.Arg881Met)
17g.745413C>GCA397503326GEMIN4c.2630G>C (p.Arg877Thr)
c.2597G>C (p.Arg866Thr)
c.2642G>C (p.Arg881Thr)
17g.745413C>TCA397503327GEMIN4c.2630G>A (p.Arg877Lys)
c.2597G>A (p.Arg866Lys)
c.2642G>A (p.Arg881Lys)
17g.745414T>ACA397503328GEMIN4c.2629A>T (p.Arg877Trp)
c.2596A>T (p.Arg866Trp)
c.2641A>T (p.Arg881Trp)
17g.745414T>CCA8262384GEMIN4c.2629A>G (p.Arg877Gly)
c.2596A>G (p.Arg866Gly)
c.2641A>G (p.Arg881Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745414T>GCA497383864GEMIN4c.2629A>C (p.Arg877=)
c.2596A>C (p.Arg866=)
c.2641A>C (p.Arg881=)
17g.745414T=CA2242474229GEMIN4c.2629A= (p.Arg877=)
c.2596A= (p.Arg866=)
c.2641A= (p.Arg881=)
17g.745415G>ACA497383866GEMIN4c.2628C>T (p.Thr876=)
c.2595C>T (p.Thr865=)
c.2640C>T (p.Thr880=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.745415G>CCA497383867GEMIN4c.2628C>G (p.Thr876=)
c.2595C>G (p.Thr865=)
c.2640C>G (p.Thr880=)
 dbSNP
17g.745415G=CA2242474230GEMIN4c.2628C= (p.Thr876=)
c.2595C= (p.Thr865=)
c.2640C= (p.Thr880=)
17g.745415G>TCA497383868GEMIN4c.2628C>A (p.Thr876=)
c.2595C>A (p.Thr865=)
c.2640C>A (p.Thr880=)
17g.745416G>ACA397503329GEMIN4c.2627C>T (p.Thr876Ile)
c.2594C>T (p.Thr865Ile)
c.2639C>T (p.Thr880Ile)
 gnomAD v4
17g.745416G>CCA397503330GEMIN4c.2627C>G (p.Thr876Ser)
c.2594C>G (p.Thr865Ser)
c.2639C>G (p.Thr880Ser)
 gnomAD v4
17g.745416G>TCA397503331GEMIN4c.2627C>A (p.Thr876Asn)
c.2594C>A (p.Thr865Asn)
c.2639C>A (p.Thr880Asn)
17g.745417T>ACA397503332GEMIN4c.2626A>T (p.Thr876Ser)
c.2593A>T (p.Thr865Ser)
c.2638A>T (p.Thr880Ser)
17g.745417T>CCA397503333GEMIN4c.2626A>G (p.Thr876Ala)
c.2593A>G (p.Thr865Ala)
c.2638A>G (p.Thr880Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.745417T>GCA397503334GEMIN4c.2626A>C (p.Thr876Pro)
c.2593A>C (p.Thr865Pro)
c.2638A>C (p.Thr880Pro)
17g.745417T=CA2242474231GEMIN4c.2626A= (p.Thr876=)
c.2593A= (p.Thr865=)
c.2638A= (p.Thr880=)
17g.745418C>ACA497383874GEMIN4c.2625G>T (p.Leu875=)
c.2592G>T (p.Leu864=)
c.2637G>T (p.Leu879=)
17g.745418C>GCA497383878GEMIN4c.2625G>C (p.Leu875=)
c.2592G>C (p.Leu864=)
c.2637G>C (p.Leu879=)
17g.745418C>TCA497383876GEMIN4c.2625G>A (p.Leu875=)
c.2592G>A (p.Leu864=)
c.2637G>A (p.Leu879=)
17g.745419A>CCA397503337GEMIN4c.2624T>G (p.Leu875Arg)
c.2591T>G (p.Leu864Arg)
c.2636T>G (p.Leu879Arg)
17g.745419A>GCA397503336GEMIN4c.2624T>C (p.Leu875Pro)
c.2591T>C (p.Leu864Pro)
c.2636T>C (p.Leu879Pro)
 gnomAD v4
17g.745419A>TCA397503335GEMIN4c.2624T>A (p.Leu875Gln)
c.2591T>A (p.Leu864Gln)
c.2636T>A (p.Leu879Gln)
17g.745420G>ACA497383884GEMIN4c.2623C>T (p.Leu875=)
c.2590C>T (p.Leu864=)
c.2635C>T (p.Leu879=)
17g.745420G>CCA397503338GEMIN4c.2623C>G (p.Leu875Val)
c.2590C>G (p.Leu864Val)
c.2635C>G (p.Leu879Val)
17g.745420G>TCA397503339GEMIN4c.2623C>A (p.Leu875Met)
c.2590C>A (p.Leu864Met)
c.2635C>A (p.Leu879Met)
 gnomAD v4
17g.745421C>ACA397503340GEMIN4c.2622G>T (p.Gln874His)
c.2589G>T (p.Gln863His)
c.2634G>T (p.Gln878His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745421C=CA2242474232GEMIN4c.2622G= (p.Gln874=)
c.2589G= (p.Gln863=)
c.2634G= (p.Gln878=)
17g.745421C>GCA397503341GEMIN4c.2622G>C (p.Gln874His)
c.2589G>C (p.Gln863His)
c.2634G>C (p.Gln878His)
17g.745421C>TCA497383887GEMIN4c.2622G>A (p.Gln874=)
c.2589G>A (p.Gln863=)
c.2634G>A (p.Gln878=)
 dbSNP gnomAD v2
17g.745422T>ACA397503342GEMIN4c.2621A>T (p.Gln874Leu)
c.2588A>T (p.Gln863Leu)
c.2633A>T (p.Gln878Leu)
17g.745422T>CCA397503343GEMIN4c.2621A>G (p.Gln874Arg)
c.2588A>G (p.Gln863Arg)
c.2633A>G (p.Gln878Arg)
17g.745422T>GCA397503344GEMIN4c.2621A>C (p.Gln874Pro)
c.2588A>C (p.Gln863Pro)
c.2633A>C (p.Gln878Pro)
17g.745423G>ACA397503345GEMIN4c.2620C>T (p.Gln874Ter)
c.2587C>T (p.Gln863Ter)
c.2632C>T (p.Gln878Ter)
17g.745423G>CCA397503346GEMIN4c.2620C>G (p.Gln874Glu)
c.2587C>G (p.Gln863Glu)
c.2632C>G (p.Gln878Glu)
 gnomAD v4
17g.745423G>TCA397503347GEMIN4c.2620C>A (p.Gln874Lys)
c.2587C>A (p.Gln863Lys)
c.2632C>A (p.Gln878Lys)
17g.745424G>ACA286713644GEMIN4c.2619C>T (p.His873=)
c.2586C>T (p.His862=)
c.2631C>T (p.His877=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745424G>CCA397503348GEMIN4c.2619C>G (p.His873Gln)
c.2586C>G (p.His862Gln)
c.2631C>G (p.His877Gln)
17g.745424G=CA2242474233GEMIN4c.2619C= (p.His873=)
c.2586C= (p.His862=)
c.2631C= (p.His877=)
17g.745424G>TCA8262385GEMIN4c.2619C>A (p.His873Gln)
c.2586C>A (p.His862Gln)
c.2631C>A (p.His877Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745425T>ACA397503350GEMIN4c.2618A>T (p.His873Leu)
c.2585A>T (p.His862Leu)
c.2630A>T (p.His877Leu)
17g.745425T>CCA8262387GEMIN4c.2618A>G (p.His873Arg)
c.2585A>G (p.His862Arg)
c.2630A>G (p.His877Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.745425T>GCA397503349GEMIN4c.2618A>C (p.His873Pro)
c.2585A>C (p.His862Pro)
c.2630A>C (p.His877Pro)
 dbSNP
17g.745425T=CA2242474234GEMIN4c.2618A= (p.His873=)
c.2585A= (p.His862=)
c.2630A= (p.His877=)
17g.745425dupCA8262386GEMIN4c.2618dup (p.His873GlnfsTer18)
c.2585dup (p.His862GlnfsTer18)
c.2630dup (p.His877GlnfsTer18)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745426G>ACA397503351GEMIN4c.2617C>T (p.His873Tyr)
c.2584C>T (p.His862Tyr)
c.2629C>T (p.His877Tyr)
17g.745426G>CCA397503352GEMIN4c.2617C>G (p.His873Asp)
c.2584C>G (p.His862Asp)
c.2629C>G (p.His877Asp)
17g.745426G>TCA397503353GEMIN4c.2617C>A (p.His873Asn)
c.2584C>A (p.His862Asn)
c.2629C>A (p.His877Asn)
17g.745427A>CCA497383899GEMIN4c.2616T>G (p.Leu872=)
c.2583T>G (p.Leu861=)
c.2628T>G (p.Leu876=)
17g.745427A>GCA497383901GEMIN4c.2616T>C (p.Leu872=)
c.2583T>C (p.Leu861=)
c.2628T>C (p.Leu876=)
17g.745427A>TCA497383902GEMIN4c.2616T>A (p.Leu872=)
c.2583T>A (p.Leu861=)
c.2628T>A (p.Leu876=)
17g.745428A>CCA397503354GEMIN4c.2615T>G (p.Leu872Arg)
c.2582T>G (p.Leu861Arg)
c.2627T>G (p.Leu876Arg)
17g.745428A>GCA397503355GEMIN4c.2615T>C (p.Leu872Pro)
c.2582T>C (p.Leu861Pro)
c.2627T>C (p.Leu876Pro)
17g.745428A>TCA397503356GEMIN4c.2615T>A (p.Leu872His)
c.2582T>A (p.Leu861His)
c.2627T>A (p.Leu876His)
17g.745429G>ACA397503357GEMIN4c.2614C>T (p.Leu872Phe)
c.2581C>T (p.Leu861Phe)
c.2626C>T (p.Leu876Phe)
 dbSNP
17g.745429G>CCA397503358GEMIN4c.2614C>G (p.Leu872Val)
c.2581C>G (p.Leu861Val)
c.2626C>G (p.Leu876Val)
 ClinVar
17g.745429G=CA2242474235GEMIN4c.2614C= (p.Leu872=)
c.2581C= (p.Leu861=)
c.2626C= (p.Leu876=)
17g.745429G>TCA397503359GEMIN4c.2614C>A (p.Leu872Ile)
c.2581C>A (p.Leu861Ile)
c.2626C>A (p.Leu876Ile)
17g.745430G>ACA497383910GEMIN4c.2613C>T (p.Arg871=)
c.2580C>T (p.Arg860=)
c.2625C>T (p.Arg875=)
17g.745430G>CCA497383911GEMIN4c.2613C>G (p.Arg871=)
c.2580C>G (p.Arg860=)
c.2625C>G (p.Arg875=)
17g.745430G>TCA497383912GEMIN4c.2613C>A (p.Arg871=)
c.2580C>A (p.Arg860=)
c.2625C>A (p.Arg875=)
17g.745431C>ACA397503360GEMIN4c.2612G>T (p.Arg871Leu)
c.2579G>T (p.Arg860Leu)
c.2624G>T (p.Arg875Leu)
17g.745431C=CA2242474236GEMIN4c.2612G= (p.Arg871=)
c.2579G= (p.Arg860=)
c.2624G= (p.Arg875=)
17g.745431C>GCA397503361GEMIN4c.2612G>C (p.Arg871Pro)
c.2579G>C (p.Arg860Pro)
c.2624G>C (p.Arg875Pro)
 gnomAD v4
17g.745431C>TCA8262388GEMIN4c.2612G>A (p.Arg871His)
c.2579G>A (p.Arg860His)
c.2624G>A (p.Arg875His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745432G>ACA8262389GEMIN4c.2611C>T (p.Arg871Cys)
c.2578C>T (p.Arg860Cys)
c.2623C>T (p.Arg875Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745432G>CCA397503363GEMIN4c.2611C>G (p.Arg871Gly)
c.2578C>G (p.Arg860Gly)
c.2623C>G (p.Arg875Gly)
 dbSNP
17g.745432G=CA2242474237GEMIN4c.2611C= (p.Arg871=)
c.2578C= (p.Arg860=)
c.2623C= (p.Arg875=)
17g.745432G>TCA397503362GEMIN4c.2611C>A (p.Arg871Ser)
c.2578C>A (p.Arg860Ser)
c.2623C>A (p.Arg875Ser)
 gnomAD v4
17g.745433C>ACA397503364GEMIN4c.2610G>T (p.Gln870His)
c.2577G>T (p.Gln859His)
c.2622G>T (p.Gln874His)
17g.745433C>GCA397503365GEMIN4c.2610G>C (p.Gln870His)
c.2577G>C (p.Gln859His)
c.2622G>C (p.Gln874His)
17g.745433C>TCA497383914GEMIN4c.2610G>A (p.Gln870=)
c.2577G>A (p.Gln859=)
c.2622G>A (p.Gln874=)
17g.745434T>ACA397503366GEMIN4c.2609A>T (p.Gln870Leu)
c.2576A>T (p.Gln859Leu)
c.2621A>T (p.Gln874Leu)
17g.745434T>CCA397503367GEMIN4c.2609A>G (p.Gln870Arg)
c.2576A>G (p.Gln859Arg)
c.2621A>G (p.Gln874Arg)
17g.745434T>GCA397503368GEMIN4c.2609A>C (p.Gln870Pro)
c.2576A>C (p.Gln859Pro)
c.2621A>C (p.Gln874Pro)
17g.745435G>ACA397503371GEMIN4c.2608C>T (p.Gln870Ter)
c.2575C>T (p.Gln859Ter)
c.2620C>T (p.Gln874Ter)
17g.745435G>CCA397503370GEMIN4c.2608C>G (p.Gln870Glu)
c.2575C>G (p.Gln859Glu)
c.2620C>G (p.Gln874Glu)
17g.745435G>TCA397503369GEMIN4c.2608C>A (p.Gln870Lys)
c.2575C>A (p.Gln859Lys)
c.2620C>A (p.Gln874Lys)
17g.745436C>ACA397503372GEMIN4c.2607G>T (p.Trp869Cys)
c.2574G>T (p.Trp858Cys)
c.2619G>T (p.Trp873Cys)
 gnomAD v4
17g.745436C=CA2242474238GEMIN4c.2607G= (p.Trp869=)
c.2574G= (p.Trp858=)
c.2619G= (p.Trp873=)
17g.745436C>GCA286713645GEMIN4c.2607G>C (p.Trp869Cys)
c.2574G>C (p.Trp858Cys)
c.2619G>C (p.Trp873Cys)
 dbSNP gnomAD v4
17g.745436C>TCA397503373GEMIN4c.2607G>A (p.Trp869Ter)
c.2574G>A (p.Trp858Ter)
c.2619G>A (p.Trp873Ter)
17g.745437C>ACA397503374GEMIN4c.2606G>T (p.Trp869Leu)
c.2573G>T (p.Trp858Leu)
c.2618G>T (p.Trp873Leu)
17g.745437C=CA2242474239GEMIN4c.2606G= (p.Trp869=)
c.2573G= (p.Trp858=)
c.2618G= (p.Trp873=)
17g.745437C>GCA397503375GEMIN4c.2606G>C (p.Trp869Ser)
c.2573G>C (p.Trp858Ser)
c.2618G>C (p.Trp873Ser)
17g.745437C>TCA397503376GEMIN4c.2606G>A (p.Trp869Ter)
c.2573G>A (p.Trp858Ter)
c.2618G>A (p.Trp873Ter)
 dbSNP gnomAD v4
17g.745438A=CA2242474240GEMIN4c.2605T= (p.Trp869=)
c.2572T= (p.Trp858=)
c.2617T= (p.Trp873=)
17g.745438A>CCA397503377GEMIN4c.2605T>G (p.Trp869Gly)
c.2572T>G (p.Trp858Gly)
c.2617T>G (p.Trp873Gly)
 gnomAD v4
17g.745438A>GCA397503379GEMIN4c.2605T>C (p.Trp869Arg)
c.2572T>C (p.Trp858Arg)
c.2617T>C (p.Trp873Arg)
 dbSNP gnomAD v4
17g.745438A>TCA397503378GEMIN4c.2605T>A (p.Trp869Arg)
c.2572T>A (p.Trp858Arg)
c.2617T>A (p.Trp873Arg)
17g.745439C>ACA397503380GEMIN4c.2604G>T (p.Glu868Asp)
c.2571G>T (p.Glu857Asp)
c.2616G>T (p.Glu872Asp)
 dbSNP
17g.745439C=CA2242474241GEMIN4c.2604G= (p.Glu868=)
c.2571G= (p.Glu857=)
c.2616G= (p.Glu872=)
17g.745439C>GCA397503381GEMIN4c.2604G>C (p.Glu868Asp)
c.2571G>C (p.Glu857Asp)
c.2616G>C (p.Glu872Asp)
17g.745439C>TCA497383919GEMIN4c.2604G>A (p.Glu868=)
c.2571G>A (p.Glu857=)
c.2616G>A (p.Glu872=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745440T>ACA397503382GEMIN4c.2603A>T (p.Glu868Val)
c.2570A>T (p.Glu857Val)
c.2615A>T (p.Glu872Val)
17g.745440T>CCA397503383GEMIN4c.2603A>G (p.Glu868Gly)
c.2570A>G (p.Glu857Gly)
c.2615A>G (p.Glu872Gly)
17g.745440T>GCA397503384GEMIN4c.2603A>C (p.Glu868Ala)
c.2570A>C (p.Glu857Ala)
c.2615A>C (p.Glu872Ala)
17g.745441C>ACA397503385GEMIN4c.2602G>T (p.Glu868Ter)
c.2569G>T (p.Glu857Ter)
c.2614G>T (p.Glu872Ter)
17g.745441C>GCA397503386GEMIN4c.2602G>C (p.Glu868Gln)
c.2569G>C (p.Glu857Gln)
c.2614G>C (p.Glu872Gln)
17g.745441C>TCA397503387GEMIN4c.2602G>A (p.Glu868Lys)
c.2569G>A (p.Glu857Lys)
c.2614G>A (p.Glu872Lys)
 gnomAD v4
17g.745442C>ACA397503388GEMIN4c.2601G>T (p.Gln867His)
c.2568G>T (p.Gln856His)
c.2613G>T (p.Gln871His)
17g.745442C>GCA397503389GEMIN4c.2601G>C (p.Gln867His)
c.2568G>C (p.Gln856His)
c.2613G>C (p.Gln871His)
17g.745442C>TCA497383923GEMIN4c.2601G>A (p.Gln867=)
c.2568G>A (p.Gln856=)
c.2613G>A (p.Gln871=)
17g.745443T>ACA397503392GEMIN4c.2600A>T (p.Gln867Leu)
c.2567A>T (p.Gln856Leu)
c.2612A>T (p.Gln871Leu)
17g.745443T>CCA397503391GEMIN4c.2600A>G (p.Gln867Arg)
c.2567A>G (p.Gln856Arg)
c.2612A>G (p.Gln871Arg)
17g.745443T>GCA397503390GEMIN4c.2600A>C (p.Gln867Pro)
c.2567A>C (p.Gln856Pro)
c.2612A>C (p.Gln871Pro)
17g.745444G>ACA397503393GEMIN4c.2599C>T (p.Gln867Ter)
c.2566C>T (p.Gln856Ter)
c.2611C>T (p.Gln871Ter)
 dbSNP gnomAD v4 COSMIC COSMIC
17g.745444G>CCA397503395GEMIN4c.2599C>G (p.Gln867Glu)
c.2566C>G (p.Gln856Glu)
c.2611C>G (p.Gln871Glu)
 dbSNP
17g.745444G=CA2242474242GEMIN4c.2599C= (p.Gln867=)
c.2566C= (p.Gln856=)
c.2611C= (p.Gln871=)
17g.745444G>TCA397503394GEMIN4c.2599C>A (p.Gln867Lys)
c.2566C>A (p.Gln856Lys)
c.2611C>A (p.Gln871Lys)
17g.745445A>CCA497383928GEMIN4c.2598T>G (p.Pro866=)
c.2565T>G (p.Pro855=)
c.2610T>G (p.Pro870=)
17g.745445A>GCA497383929GEMIN4c.2598T>C (p.Pro866=)
c.2565T>C (p.Pro855=)
c.2610T>C (p.Pro870=)
 gnomAD v3 gnomAD v4
17g.745445A>TCA497383930GEMIN4c.2598T>A (p.Pro866=)
c.2565T>A (p.Pro855=)
c.2610T>A (p.Pro870=)
17g.745448_745459delCA2576107239GEMIN4c.2587_2598del (p.Trp863_Pro866del)
c.2554_2565del (p.Trp852_Pro855del)
c.2599_2610del (p.Trp867_Pro870del)
17g.745446G>ACA397503396GEMIN4c.2597C>T (p.Pro866Leu)
c.2564C>T (p.Pro855Leu)
c.2609C>T (p.Pro870Leu)
 dbSNP
17g.745446G>CCA397503397GEMIN4c.2597C>G (p.Pro866Arg)
c.2564C>G (p.Pro855Arg)
c.2609C>G (p.Pro870Arg)
17g.745446G=CA2242474243GEMIN4c.2597C= (p.Pro866=)
c.2564C= (p.Pro855=)
c.2609C= (p.Pro870=)
17g.745446G>TCA397503398GEMIN4c.2597C>A (p.Pro866His)
c.2564C>A (p.Pro855His)
c.2609C>A (p.Pro870His)
 gnomAD v4
17g.745447G>ACA397503399GEMIN4c.2596C>T (p.Pro866Ser)
c.2563C>T (p.Pro855Ser)
c.2608C>T (p.Pro870Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.745447G>CCA397503400GEMIN4c.2596C>G (p.Pro866Ala)
c.2563C>G (p.Pro855Ala)
c.2608C>G (p.Pro870Ala)
17g.745447G=CA2242474244GEMIN4c.2596C= (p.Pro866=)
c.2563C= (p.Pro855=)
c.2608C= (p.Pro870=)
17g.745447G>TCA397503401GEMIN4c.2596C>A (p.Pro866Thr)
c.2563C>A (p.Pro855Thr)
c.2608C>A (p.Pro870Thr)
17g.745448G>ACA8262390GEMIN4c.2595C>T (p.Ser865=)
c.2562C>T (p.Ser854=)
c.2607C>T (p.Ser869=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745448G>CCA397503402GEMIN4c.2595C>G (p.Ser865Arg)
c.2562C>G (p.Ser854Arg)
c.2607C>G (p.Ser869Arg)
 gnomAD v4
17g.745448G=CA2242474245GEMIN4c.2595C= (p.Ser865=)
c.2562C= (p.Ser854=)
c.2607C= (p.Ser869=)
17g.745448G>TCA397503403GEMIN4c.2595C>A (p.Ser865Arg)
c.2562C>A (p.Ser854Arg)
c.2607C>A (p.Ser869Arg)
 dbSNP gnomAD v4
17g.745449C>ACA397503404GEMIN4c.2594G>T (p.Ser865Ile)
c.2561G>T (p.Ser854Ile)
c.2606G>T (p.Ser869Ile)
17g.745449C=CA2242474246GEMIN4c.2594G= (p.Ser865=)
c.2561G= (p.Ser854=)
c.2606G= (p.Ser869=)
17g.745449C>GCA397503405GEMIN4c.2594G>C (p.Ser865Thr)
c.2561G>C (p.Ser854Thr)
c.2606G>C (p.Ser869Thr)
17g.745449C>TCA8262391GEMIN4c.2594G>A (p.Ser865Asn)
c.2561G>A (p.Ser854Asn)
c.2606G>A (p.Ser869Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745450T>ACA397503408GEMIN4c.2593A>T (p.Ser865Cys)
c.2560A>T (p.Ser854Cys)
c.2605A>T (p.Ser869Cys)
17g.745450T>CCA397503406GEMIN4c.2593A>G (p.Ser865Gly)
c.2560A>G (p.Ser854Gly)
c.2605A>G (p.Ser869Gly)
17g.745450T>GCA397503407GEMIN4c.2593A>C (p.Ser865Arg)
c.2560A>C (p.Ser854Arg)
c.2605A>C (p.Ser869Arg)
17g.745457_745473delCA2635152492GEMIN4c.2577_2593del (p.Val860ProfsTer25)
c.2544_2560del (p.Val849ProfsTer25)
c.2589_2605del (p.Val864ProfsTer25)
 gnomAD v4
17g.745451G>ACA497383942GEMIN4c.2592C>T (p.Cys864=)
c.2559C>T (p.Cys853=)
c.2604C>T (p.Cys868=)
17g.745451G>CCA397503409GEMIN4c.2592C>G (p.Cys864Trp)
c.2559C>G (p.Cys853Trp)
c.2604C>G (p.Cys868Trp)
17g.745451G>TCA397503410GEMIN4c.2592C>A (p.Cys864Ter)
c.2559C>A (p.Cys853Ter)
c.2604C>A (p.Cys868Ter)
17g.745452C>ACA397503411GEMIN4c.2591G>T (p.Cys864Phe)
c.2558G>T (p.Cys853Phe)
c.2603G>T (p.Cys868Phe)
 COSMIC COSMIC
17g.745452C=CA2242474247GEMIN4c.2591G= (p.Cys864=)
c.2558G= (p.Cys853=)
c.2603G= (p.Cys868=)
17g.745452C>GCA397503412GEMIN4c.2591G>C (p.Cys864Ser)
c.2558G>C (p.Cys853Ser)
c.2603G>C (p.Cys868Ser)
 gnomAD v4
17g.745452C>TCA397503413GEMIN4c.2591G>A (p.Cys864Tyr)
c.2558G>A (p.Cys853Tyr)
c.2603G>A (p.Cys868Tyr)
 dbSNP gnomAD v2 gnomAD v4
17g.745453A=CA2242474248GEMIN4c.2590T= (p.Cys864=)
c.2557T= (p.Cys853=)
c.2602T= (p.Cys868=)
17g.745453A>CCA397503414GEMIN4c.2590T>G (p.Cys864Gly)
c.2557T>G (p.Cys853Gly)
c.2602T>G (p.Cys868Gly)
17g.745453A>GCA286713646GEMIN4c.2590T>C (p.Cys864Arg)
c.2557T>C (p.Cys853Arg)
c.2602T>C (p.Cys868Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.745453A>TCA397503415GEMIN4c.2590T>A (p.Cys864Ser)
c.2557T>A (p.Cys853Ser)
c.2602T>A (p.Cys868Ser)
17g.745454C>ACA397503416GEMIN4c.2589G>T (p.Trp863Cys)
c.2556G>T (p.Trp852Cys)
c.2601G>T (p.Trp867Cys)
 dbSNP gnomAD v4
17g.745454C=CA2242474249GEMIN4c.2589G= (p.Trp863=)
c.2556G= (p.Trp852=)
c.2601G= (p.Trp867=)
17g.745454C>GCA397503417GEMIN4c.2589G>C (p.Trp863Cys)
c.2556G>C (p.Trp852Cys)
c.2601G>C (p.Trp867Cys)
17g.745454C>TCA397503418GEMIN4c.2589G>A (p.Trp863Ter)
c.2556G>A (p.Trp852Ter)
c.2601G>A (p.Trp867Ter)
17g.745455C>ACA397503420GEMIN4c.2588G>T (p.Trp863Leu)
c.2555G>T (p.Trp852Leu)
c.2600G>T (p.Trp867Leu)
 gnomAD v4
17g.745455C=CA2242474250GEMIN4c.2588G= (p.Trp863=)
c.2555G= (p.Trp852=)
c.2600G= (p.Trp867=)
17g.745455C>GCA8262392GEMIN4c.2588G>C (p.Trp863Ser)
c.2555G>C (p.Trp852Ser)
c.2600G>C (p.Trp867Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745455C>TCA397503419GEMIN4c.2588G>A (p.Trp863Ter)
c.2555G>A (p.Trp852Ter)
c.2600G>A (p.Trp867Ter)
17g.745456A>CCA397503423GEMIN4c.2587T>G (p.Trp863Gly)
c.2554T>G (p.Trp852Gly)
c.2599T>G (p.Trp867Gly)
17g.745456A>GCA397503421GEMIN4c.2587T>C (p.Trp863Arg)
c.2554T>C (p.Trp852Arg)
c.2599T>C (p.Trp867Arg)
17g.745456A>TCA397503422GEMIN4c.2587T>A (p.Trp863Arg)
c.2554T>A (p.Trp852Arg)
c.2599T>A (p.Trp867Arg)
17g.745457A>CCA497383947GEMIN4c.2586T>G (p.Pro862=)
c.2553T>G (p.Pro851=)
c.2598T>G (p.Pro866=)
17g.745457A>GCA497383950GEMIN4c.2586T>C (p.Pro862=)
c.2553T>C (p.Pro851=)
c.2598T>C (p.Pro866=)
17g.745457A>TCA497383948GEMIN4c.2586T>A (p.Pro862=)
c.2553T>A (p.Pro851=)
c.2598T>A (p.Pro866=)
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)

Number of alleles fetched