Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
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

Number of alleles fetched