Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.103220620T>CCA670960607DYNC2H1c.8947-3T>C (n.8947-3T>C)
c.2205+86201T>C (n.2205+86201T>C)
c.8926-3T>C (n.8926-3T>C)
c.8329-3T>C (n.8329-3T>C)
 dbSNP gnomAD v3 gnomAD v4
11g.103220620T=CA1996434087DYNC2H1c.8947-3T= (n.8947-3T=)
c.2205+86201T= (n.2205+86201T=)
c.8926-3T= (n.8926-3T=)
c.8329-3T= (n.8329-3T=)
11g.103220620_103220621insGCA2570363600DYNC2H1c.8947-3_8947-2insG (n.8947-3_8947-2insG)
c.2205+86201_2205+86202insG (n.2205+86201_2205+86202insG)
c.8926-3_8926-2insG (n.8926-3_8926-2insG)
c.8329-3_8329-2insG (n.8329-3_8329-2insG)
11g.103220621A>CCA382262642DYNC2H1c.8947-2A>C (n.8947-2A>C)
c.2205+86202A>C (n.2205+86202A>C)
c.8926-2A>C (n.8926-2A>C)
c.8329-2A>C (n.8329-2A>C)
11g.103220621A>GCA382262643DYNC2H1c.8947-2A>G (n.8947-2A>G)
c.2205+86202A>G (n.2205+86202A>G)
c.8926-2A>G (n.8926-2A>G)
c.8329-2A>G (n.8329-2A>G)
 ClinVar
11g.103220621A>TCA382262644DYNC2H1c.8947-2A>T (n.8947-2A>T)
c.2205+86202A>T (n.2205+86202A>T)
c.8926-2A>T (n.8926-2A>T)
c.8329-2A>T (n.8329-2A>T)
11g.103220622G>ACA227417200DYNC2H1c.8947-1G>A (n.8947-1G>A)
c.2205+86203G>A (n.2205+86203G>A)
c.8926-1G>A (n.8926-1G>A)
c.8329-1G>A (n.8329-1G>A)
 dbSNP gnomAD v4
11g.103220622G>CCA382262645DYNC2H1c.8947-1G>C (n.8947-1G>C)
c.2205+86203G>C (n.2205+86203G>C)
c.8926-1G>C (n.8926-1G>C)
c.8329-1G>C (n.8329-1G>C)
11g.103220622G=CA1996434088DYNC2H1c.8947-1G= (n.8947-1G=)
c.2205+86203G= (n.2205+86203G=)
c.8926-1G= (n.8926-1G=)
c.8329-1G= (n.8329-1G=)
11g.103220622G>TCA210623DYNC2H1c.8947-1G>T (n.8947-1G>T)
c.2205+86203G>T (n.2205+86203G>T)
c.8926-1G>T (n.8926-1G>T)
c.8329-1G>T (n.8329-1G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.103220623C>ACA382262646DYNC2H1c.8947C>A (p.Pro2983Thr)
c.2205+86204C>A (n.2205+86204C>A)
c.8926C>A (p.Pro2976Thr)
c.8329C>A (p.Pro2777Thr)
 gnomAD v4
11g.103220623C=CA1996434089DYNC2H1c.8947C= (p.Pro2983=)
c.2205+86204C= (n.2205+86204C=)
c.8926C= (p.Pro2976=)
c.8329C= (p.Pro2777=)
11g.103220623C>GCA6254578DYNC2H1c.8947C>G (p.Pro2983Ala)
c.2205+86204C>G (n.2205+86204C>G)
c.8926C>G (p.Pro2976Ala)
c.8329C>G (p.Pro2777Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.103220623C>TCA382262647DYNC2H1c.8947C>T (p.Pro2983Ser)
c.2205+86204C>T (n.2205+86204C>T)
c.8926C>T (p.Pro2976Ser)
c.8329C>T (p.Pro2777Ser)
 gnomAD v4 COSMIC
11g.103220624C>ACA382262648DYNC2H1c.8948C>A (p.Pro2983His)
c.2205+86205C>A (n.2205+86205C>A)
c.8927C>A (p.Pro2976His)
c.8330C>A (p.Pro2777His)
 gnomAD v4
11g.103220624C=CA1996434090DYNC2H1c.8948C= (p.Pro2983=)
c.2205+86205C= (n.2205+86205C=)
c.8927C= (p.Pro2976=)
c.8330C= (p.Pro2777=)
11g.103220624C>GCA382262649DYNC2H1c.8948C>G (p.Pro2983Arg)
c.2205+86205C>G (n.2205+86205C>G)
c.8927C>G (p.Pro2976Arg)
c.8330C>G (p.Pro2777Arg)
11g.103220624C>TCA382262650DYNC2H1c.8948C>T (p.Pro2983Leu)
c.2205+86205C>T (n.2205+86205C>T)
c.8927C>T (p.Pro2976Leu)
c.8330C>T (p.Pro2777Leu)
 dbSNP
11g.103220625T>ACA476622019DYNC2H1c.8949T>A (p.Pro2983=)
c.2205+86206T>A (n.2205+86206T>A)
c.8928T>A (p.Pro2976=)
c.8331T>A (p.Pro2777=)
11g.103220625T>CCA476622022DYNC2H1c.8949T>C (p.Pro2983=)
c.2205+86206T>C (n.2205+86206T>C)
c.8928T>C (p.Pro2976=)
c.8331T>C (p.Pro2777=)
11g.103220625T>GCA476622020DYNC2H1c.8949T>G (p.Pro2983=)
c.2205+86206T>G (n.2205+86206T>G)
c.8928T>G (p.Pro2976=)
c.8331T>G (p.Pro2777=)
 gnomAD v4
11g.103220627delCA2582342472DYNC2H1c.8951del (p.Leu2984Ter)
c.2205+86208del (n.2205+86208del)
c.8930del (p.Leu2977Ter)
c.8333del (p.Leu2778Ter)
 ClinVar gnomAD v4
11g.103220626T>ACA382262651DYNC2H1c.8950T>A (p.Leu2984Ile)
c.2205+86207T>A (n.2205+86207T>A)
c.8929T>A (p.Leu2977Ile)
c.8332T>A (p.Leu2778Ile)
 dbSNP
11g.103220626T>CCA476622027DYNC2H1c.8950T>C (p.Leu2984=)
c.2205+86207T>C (n.2205+86207T>C)
c.8929T>C (p.Leu2977=)
c.8332T>C (p.Leu2778=)
11g.103220626T>GCA382262652DYNC2H1c.8950T>G (p.Leu2984Val)
c.2205+86207T>G (n.2205+86207T>G)
c.8929T>G (p.Leu2977Val)
c.8332T>G (p.Leu2778Val)
11g.103220626T=CA1996434091DYNC2H1c.8950T= (p.Leu2984=)
c.2205+86207T= (n.2205+86207T=)
c.8929T= (p.Leu2977=)
c.8332T= (p.Leu2778=)
11g.103220627T>ACA382262653DYNC2H1c.8951T>A (p.Leu2984Ter)
c.2205+86208T>A (n.2205+86208T>A)
c.8930T>A (p.Leu2977Ter)
c.8333T>A (p.Leu2778Ter)
11g.103220627T>CCA382262654DYNC2H1c.8951T>C (p.Leu2984Ser)
c.2205+86208T>C (n.2205+86208T>C)
c.8930T>C (p.Leu2977Ser)
c.8333T>C (p.Leu2778Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.103220627T>GCA382262655DYNC2H1c.8951T>G (p.Leu2984Ter)
c.2205+86208T>G (n.2205+86208T>G)
c.8930T>G (p.Leu2977Ter)
c.8333T>G (p.Leu2778Ter)
11g.103220627T=CA1996434092DYNC2H1c.8951T= (p.Leu2984=)
c.2205+86208T= (n.2205+86208T=)
c.8930T= (p.Leu2977=)
c.8333T= (p.Leu2778=)
11g.103220628A>CCA382262656DYNC2H1c.8952A>C (p.Leu2984Phe)
c.2205+86209A>C (n.2205+86209A>C)
c.8931A>C (p.Leu2977Phe)
c.8334A>C (p.Leu2778Phe)
11g.103220628A>GCA476622032DYNC2H1c.8952A>G (p.Leu2984=)
c.2205+86209A>G (n.2205+86209A>G)
c.8931A>G (p.Leu2977=)
c.8334A>G (p.Leu2778=)
 gnomAD v4
11g.103220628A>TCA382262657DYNC2H1c.8952A>T (p.Leu2984Phe)
c.2205+86209A>T (n.2205+86209A>T)
c.8931A>T (p.Leu2977Phe)
c.8334A>T (p.Leu2778Phe)
11g.103220629G>ACA382262659DYNC2H1c.8953G>A (p.Val2985Ile)
c.2205+86210G>A (n.2205+86210G>A)
c.8932G>A (p.Val2978Ile)
c.8335G>A (p.Val2779Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.103220629G>CCA382262660DYNC2H1c.8953G>C (p.Val2985Leu)
c.2205+86210G>C (n.2205+86210G>C)
c.8932G>C (p.Val2978Leu)
c.8335G>C (p.Val2779Leu)
11g.103220629G=CA1996434093DYNC2H1c.8953G= (p.Val2985=)
c.2205+86210G= (n.2205+86210G=)
c.8932G= (p.Val2978=)
c.8335G= (p.Val2779=)
11g.103220629G>TCA382262658DYNC2H1c.8953G>T (p.Val2985Phe)
c.2205+86210G>T (n.2205+86210G>T)
c.8932G>T (p.Val2978Phe)
c.8335G>T (p.Val2779Phe)
11g.103220630T>ACA382262663DYNC2H1c.8954T>A (p.Val2985Asp)
c.2205+86211T>A (n.2205+86211T>A)
c.8933T>A (p.Val2978Asp)
c.8336T>A (p.Val2779Asp)
11g.103220630T>CCA382262661DYNC2H1c.8954T>C (p.Val2985Ala)
c.2205+86211T>C (n.2205+86211T>C)
c.8933T>C (p.Val2978Ala)
c.8336T>C (p.Val2779Ala)
11g.103220630T>GCA382262662DYNC2H1c.8954T>G (p.Val2985Gly)
c.2205+86211T>G (n.2205+86211T>G)
c.8933T>G (p.Val2978Gly)
c.8336T>G (p.Val2779Gly)
 dbSNP
11g.103220630T=CA1996434094DYNC2H1c.8954T= (p.Val2985=)
c.2205+86211T= (n.2205+86211T=)
c.8933T= (p.Val2978=)
c.8336T= (p.Val2779=)
11g.103220631C>ACA476622039DYNC2H1c.8955C>A (p.Val2985=)
c.2205+86212C>A (n.2205+86212C>A)
c.8934C>A (p.Val2978=)
c.8337C>A (p.Val2779=)
 gnomAD v4 COSMIC
11g.103220631C>GCA476622041DYNC2H1c.8955C>G (p.Val2985=)
c.2205+86212C>G (n.2205+86212C>G)
c.8934C>G (p.Val2978=)
c.8337C>G (p.Val2779=)
11g.103220631C>TCA476622043DYNC2H1c.8955C>T (p.Val2985=)
c.2205+86212C>T (n.2205+86212C>T)
c.8934C>T (p.Val2978=)
c.8337C>T (p.Val2779=)
11g.103220632A=CA1996434095DYNC2H1c.8956A= (p.Asn2986=)
c.2205+86213A= (n.2205+86213A=)
c.8935A= (p.Asn2979=)
c.8338A= (p.Asn2780=)
11g.103220632A>CCA382262664DYNC2H1c.8956A>C (p.Asn2986His)
c.2205+86213A>C (n.2205+86213A>C)
c.8935A>C (p.Asn2979His)
c.8338A>C (p.Asn2780His)
 gnomAD v4
11g.103220632A>GCA382262665DYNC2H1c.8956A>G (p.Asn2986Asp)
c.2205+86213A>G (n.2205+86213A>G)
c.8935A>G (p.Asn2979Asp)
c.8338A>G (p.Asn2780Asp)
 dbSNP gnomAD v3 gnomAD v4
11g.103220632A>TCA382262666DYNC2H1c.8956A>T (p.Asn2986Tyr)
c.2205+86213A>T (n.2205+86213A>T)
c.8935A>T (p.Asn2979Tyr)
c.8338A>T (p.Asn2780Tyr)
11g.103220633A=CA1996434096DYNC2H1c.8957A= (p.Asn2986=)
c.2205+86214A= (n.2205+86214A=)
c.8936A= (p.Asn2979=)
c.8339A= (p.Asn2780=)
11g.103220633A>CCA382262667DYNC2H1c.8957A>C (p.Asn2986Thr)
c.2205+86214A>C (n.2205+86214A>C)
c.8936A>C (p.Asn2979Thr)
c.8339A>C (p.Asn2780Thr)
11g.103220633A>GCA382262668DYNC2H1c.8957A>G (p.Asn2986Ser)
c.2205+86214A>G (n.2205+86214A>G)
c.8936A>G (p.Asn2979Ser)
c.8339A>G (p.Asn2780Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.103220633A>TCA382262669DYNC2H1c.8957A>T (p.Asn2986Ile)
c.2205+86214A>T (n.2205+86214A>T)
c.8936A>T (p.Asn2979Ile)
c.8339A>T (p.Asn2780Ile)
11g.103220634T>ACA382262670DYNC2H1c.8958T>A (p.Asn2986Lys)
c.2205+86215T>A (n.2205+86215T>A)
c.8937T>A (p.Asn2979Lys)
c.8340T>A (p.Asn2780Lys)
11g.103220634T>CCA476622046DYNC2H1c.8958T>C (p.Asn2986=)
c.2205+86215T>C (n.2205+86215T>C)
c.8937T>C (p.Asn2979=)
c.8340T>C (p.Asn2780=)
 dbSNP gnomAD v2 gnomAD v4
11g.103220634T>GCA382262671DYNC2H1c.8958T>G (p.Asn2986Lys)
c.2205+86215T>G (n.2205+86215T>G)
c.8937T>G (p.Asn2979Lys)
c.8340T>G (p.Asn2780Lys)
11g.103220634T=CA1996434097DYNC2H1c.8958T= (p.Asn2986=)
c.2205+86215T= (n.2205+86215T=)
c.8937T= (p.Asn2979=)
c.8340T= (p.Asn2780=)
11g.103220635G>ACA382262672DYNC2H1c.8959G>A (p.Glu2987Lys)
c.2205+86216G>A (n.2205+86216G>A)
c.8938G>A (p.Glu2980Lys)
c.8341G>A (p.Glu2781Lys)
11g.103220635G>CCA382262673DYNC2H1c.8959G>C (p.Glu2987Gln)
c.2205+86216G>C (n.2205+86216G>C)
c.8938G>C (p.Glu2980Gln)
c.8341G>C (p.Glu2781Gln)
11g.103220635G>TCA382262674DYNC2H1c.8959G>T (p.Glu2987Ter)
c.2205+86216G>T (n.2205+86216G>T)
c.8938G>T (p.Glu2980Ter)
c.8341G>T (p.Glu2781Ter)
11g.103220636A=CA1996434098DYNC2H1c.8960A= (p.Glu2987=)
c.2205+86217A= (n.2205+86217A=)
c.8939A= (p.Glu2980=)
c.8342A= (p.Glu2781=)
11g.103220636A>CCA6254579DYNC2H1c.8960A>C (p.Glu2987Ala)
c.2205+86217A>C (n.2205+86217A>C)
c.8939A>C (p.Glu2980Ala)
c.8342A>C (p.Glu2781Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.103220636A>GCA382262676DYNC2H1c.8960A>G (p.Glu2987Gly)
c.2205+86217A>G (n.2205+86217A>G)
c.8939A>G (p.Glu2980Gly)
c.8342A>G (p.Glu2781Gly)
11g.103220636A>TCA382262675DYNC2H1c.8960A>T (p.Glu2987Val)
c.2205+86217A>T (n.2205+86217A>T)
c.8939A>T (p.Glu2980Val)
c.8342A>T (p.Glu2781Val)
11g.103220637A>CCA382262677DYNC2H1c.8961A>C (p.Glu2987Asp)
c.2205+86218A>C (n.2205+86218A>C)
c.8940A>C (p.Glu2980Asp)
c.8343A>C (p.Glu2781Asp)
11g.103220637A>GCA476622051DYNC2H1c.8961A>G (p.Glu2987=)
c.2205+86218A>G (n.2205+86218A>G)
c.8940A>G (p.Glu2980=)
c.8343A>G (p.Glu2781=)
11g.103220637A>TCA382262678DYNC2H1c.8961A>T (p.Glu2987Asp)
c.2205+86218A>T (n.2205+86218A>T)
c.8940A>T (p.Glu2980Asp)
c.8343A>T (p.Glu2781Asp)
11g.103220638G>ACA382262679DYNC2H1c.8962G>A (p.Ala2988Thr)
c.2205+86219G>A (n.2205+86219G>A)
c.8941G>A (p.Ala2981Thr)
c.8344G>A (p.Ala2782Thr)
11g.103220638G>CCA382262680DYNC2H1c.8962G>C (p.Ala2988Pro)
c.2205+86219G>C (n.2205+86219G>C)
c.8941G>C (p.Ala2981Pro)
c.8344G>C (p.Ala2782Pro)
11g.103220638G>TCA382262681DYNC2H1c.8962G>T (p.Ala2988Ser)
c.2205+86219G>T (n.2205+86219G>T)
c.8941G>T (p.Ala2981Ser)
c.8344G>T (p.Ala2782Ser)
11g.103220639C>ACA382262682DYNC2H1c.8963C>A (p.Ala2988Asp)
c.2205+86220C>A (n.2205+86220C>A)
c.8942C>A (p.Ala2981Asp)
c.8345C>A (p.Ala2782Asp)
11g.103220639C>GCA382262683DYNC2H1c.8963C>G (p.Ala2988Gly)
c.2205+86220C>G (n.2205+86220C>G)
c.8942C>G (p.Ala2981Gly)
c.8345C>G (p.Ala2782Gly)
 gnomAD v4
11g.103220639C>TCA382262684DYNC2H1c.8963C>T (p.Ala2988Val)
c.2205+86220C>T (n.2205+86220C>T)
c.8942C>T (p.Ala2981Val)
c.8345C>T (p.Ala2782Val)
11g.103220640T>ACA476622059DYNC2H1c.8964T>A (p.Ala2988=)
c.2205+86221T>A (n.2205+86221T>A)
c.8943T>A (p.Ala2981=)
c.8346T>A (p.Ala2782=)
 gnomAD v4
11g.103220640T>CCA476622061DYNC2H1c.8964T>C (p.Ala2988=)
c.2205+86221T>C (n.2205+86221T>C)
c.8943T>C (p.Ala2981=)
c.8346T>C (p.Ala2782=)
 gnomAD v4
11g.103220640T>GCA476622062DYNC2H1c.8964T>G (p.Ala2988=)
c.2205+86221T>G (n.2205+86221T>G)
c.8943T>G (p.Ala2981=)
c.8346T>G (p.Ala2782=)
11g.103220641A>CCA382262685DYNC2H1c.8965A>C (p.Lys2989Gln)
c.2205+86222A>C (n.2205+86222A>C)
c.8944A>C (p.Lys2982Gln)
c.8347A>C (p.Lys2783Gln)
11g.103220641A>GCA382262686DYNC2H1c.8965A>G (p.Lys2989Glu)
c.2205+86222A>G (n.2205+86222A>G)
c.8944A>G (p.Lys2982Glu)
c.8347A>G (p.Lys2783Glu)
11g.103220641A>TCA382262687DYNC2H1c.8965A>T (p.Lys2989Ter)
c.2205+86222A>T (n.2205+86222A>T)
c.8944A>T (p.Lys2982Ter)
c.8347A>T (p.Lys2783Ter)
11g.103220642A>CCA382262689DYNC2H1c.8966A>C (p.Lys2989Thr)
c.2205+86223A>C (n.2205+86223A>C)
c.8945A>C (p.Lys2982Thr)
c.8348A>C (p.Lys2783Thr)
11g.103220642A>GCA382262690DYNC2H1c.8966A>G (p.Lys2989Arg)
c.2205+86223A>G (n.2205+86223A>G)
c.8945A>G (p.Lys2982Arg)
c.8348A>G (p.Lys2783Arg)
11g.103220642A>TCA382262688DYNC2H1c.8966A>T (p.Lys2989Ile)
c.2205+86223A>T (n.2205+86223A>T)
c.8945A>T (p.Lys2982Ile)
c.8348A>T (p.Lys2783Ile)
11g.103220643A>CCA382262691DYNC2H1c.8967A>C (p.Lys2989Asn)
c.2205+86224A>C (n.2205+86224A>C)
c.8946A>C (p.Lys2982Asn)
c.8349A>C (p.Lys2783Asn)
11g.103220643A>GCA476622069DYNC2H1c.8967A>G (p.Lys2989=)
c.2205+86224A>G (n.2205+86224A>G)
c.8946A>G (p.Lys2982=)
c.8349A>G (p.Lys2783=)
11g.103220643A>TCA382262692DYNC2H1c.8967A>T (p.Lys2989Asn)
c.2205+86224A>T (n.2205+86224A>T)
c.8946A>T (p.Lys2982Asn)
c.8349A>T (p.Lys2783Asn)
11g.103220644C>ACA382262693DYNC2H1c.8968C>A (p.Leu2990Ile)
c.2205+86225C>A (n.2205+86225C>A)
c.8947C>A (p.Leu2983Ile)
c.8350C>A (p.Leu2784Ile)
11g.103220644C>GCA382262694DYNC2H1c.8968C>G (p.Leu2990Val)
c.2205+86225C>G (n.2205+86225C>G)
c.8947C>G (p.Leu2983Val)
c.8350C>G (p.Leu2784Val)
11g.103220644C>TCA476622073DYNC2H1c.8968C>T (p.Leu2990=)
c.2205+86225C>T (n.2205+86225C>T)
c.8947C>T (p.Leu2983=)
c.8350C>T (p.Leu2784=)
 ClinVar gnomAD v4
11g.103220645T>ACA382262695DYNC2H1c.8969T>A (p.Leu2990Gln)
c.2205+86226T>A (n.2205+86226T>A)
c.8948T>A (p.Leu2983Gln)
c.8351T>A (p.Leu2784Gln)
11g.103220645T>CCA382262696DYNC2H1c.8969T>C (p.Leu2990Pro)
c.2205+86226T>C (n.2205+86226T>C)
c.8948T>C (p.Leu2983Pro)
c.8351T>C (p.Leu2784Pro)
11g.103220645T>GCA382262697DYNC2H1c.8969T>G (p.Leu2990Arg)
c.2205+86226T>G (n.2205+86226T>G)
c.8948T>G (p.Leu2983Arg)
c.8351T>G (p.Leu2784Arg)
11g.103220646A>CCA476622077DYNC2H1c.8970A>C (p.Leu2990=)
c.2205+86227A>C (n.2205+86227A>C)
c.8949A>C (p.Leu2983=)
c.8352A>C (p.Leu2784=)
11g.103220646A>GCA476622078DYNC2H1c.8970A>G (p.Leu2990=)
c.2205+86227A>G (n.2205+86227A>G)
c.8949A>G (p.Leu2983=)
c.8352A>G (p.Leu2784=)
11g.103220646A>TCA476622079DYNC2H1c.8970A>T (p.Leu2990=)
c.2205+86227A>T (n.2205+86227A>T)
c.8949A>T (p.Leu2983=)
c.8352A>T (p.Leu2784=)
11g.103220647G>ACA382262698DYNC2H1c.8971G>A (p.Ala2991Thr)
c.2205+86228G>A (n.2205+86228G>A)
c.8950G>A (p.Ala2984Thr)
c.8353G>A (p.Ala2785Thr)
 gnomAD v4
11g.103220647G>CCA382262699DYNC2H1c.8971G>C (p.Ala2991Pro)
c.2205+86228G>C (n.2205+86228G>C)
c.8950G>C (p.Ala2984Pro)
c.8353G>C (p.Ala2785Pro)
11g.103220647G>TCA382262700DYNC2H1c.8971G>T (p.Ala2991Ser)
c.2205+86228G>T (n.2205+86228G>T)
c.8950G>T (p.Ala2984Ser)
c.8353G>T (p.Ala2785Ser)
11g.103220648C>ACA382262701DYNC2H1c.8972C>A (p.Ala2991Glu)
c.2205+86229C>A (n.2205+86229C>A)
c.8951C>A (p.Ala2984Glu)
c.8354C>A (p.Ala2785Glu)
 gnomAD v4
11g.103220648C>GCA382262702DYNC2H1c.8972C>G (p.Ala2991Gly)
c.2205+86229C>G (n.2205+86229C>G)
c.8951C>G (p.Ala2984Gly)
c.8354C>G (p.Ala2785Gly)
11g.103220648C>TCA382262703DYNC2H1c.8972C>T (p.Ala2991Val)
c.2205+86229C>T (n.2205+86229C>T)
c.8951C>T (p.Ala2984Val)
c.8354C>T (p.Ala2785Val)
 gnomAD v4
11g.103220649A>CCA476622083DYNC2H1c.8973A>C (p.Ala2991=)
c.2205+86230A>C (n.2205+86230A>C)
c.8952A>C (p.Ala2984=)
c.8355A>C (p.Ala2785=)
11g.103220649A>GCA476622084DYNC2H1c.8973A>G (p.Ala2991=)
c.2205+86230A>G (n.2205+86230A>G)
c.8952A>G (p.Ala2984=)
c.8355A>G (p.Ala2785=)
11g.103220649A>TCA476622082DYNC2H1c.8973A>T (p.Ala2991=)
c.2205+86230A>T (n.2205+86230A>T)
c.8952A>T (p.Ala2984=)
c.8355A>T (p.Ala2785=)
 COSMIC
11g.103220650G>ACA382262704DYNC2H1c.8974G>A (p.Val2992Ile)
c.2205+86231G>A (n.2205+86231G>A)
c.8953G>A (p.Val2985Ile)
c.8356G>A (p.Val2786Ile)
 dbSNP gnomAD v3 gnomAD v4
11g.103220650G>CCA382262705DYNC2H1c.8974G>C (p.Val2992Leu)
c.2205+86231G>C (n.2205+86231G>C)
c.8953G>C (p.Val2985Leu)
c.8356G>C (p.Val2786Leu)
11g.103220650G=CA1996434099DYNC2H1c.8974G= (p.Val2992=)
c.2205+86231G= (n.2205+86231G=)
c.8953G= (p.Val2985=)
c.8356G= (p.Val2786=)
11g.103220650G>TCA6254580DYNC2H1c.8974G>T (p.Val2992Phe)
c.2205+86231G>T (n.2205+86231G>T)
c.8953G>T (p.Val2985Phe)
c.8356G>T (p.Val2786Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.103220651T>ACA382262706DYNC2H1c.8975T>A (p.Val2992Asp)
c.2205+86232T>A (n.2205+86232T>A)
c.8954T>A (p.Val2985Asp)
c.8357T>A (p.Val2786Asp)
11g.103220651T>CCA227417206DYNC2H1c.8975T>C (p.Val2992Ala)
c.2205+86232T>C (n.2205+86232T>C)
c.8954T>C (p.Val2985Ala)
c.8357T>C (p.Val2786Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.103220651T>GCA382262707DYNC2H1c.8975T>G (p.Val2992Gly)
c.2205+86232T>G (n.2205+86232T>G)
c.8954T>G (p.Val2985Gly)
c.8357T>G (p.Val2786Gly)
11g.103220651T=CA1996434100DYNC2H1c.8975T= (p.Val2992=)
c.2205+86232T= (n.2205+86232T=)
c.8954T= (p.Val2985=)
c.8357T= (p.Val2786=)
11g.103220652T>ACA476622095DYNC2H1c.8976T>A (p.Val2992=)
c.2205+86233T>A (n.2205+86233T>A)
c.8955T>A (p.Val2985=)
c.8358T>A (p.Val2786=)
11g.103220652T>CCA476622094DYNC2H1c.8976T>C (p.Val2992=)
c.2205+86233T>C (n.2205+86233T>C)
c.8955T>C (p.Val2985=)
c.8358T>C (p.Val2786=)
11g.103220652T>GCA476622092DYNC2H1c.8976T>G (p.Val2992=)
c.2205+86233T>G (n.2205+86233T>G)
c.8955T>G (p.Val2985=)
c.8358T>G (p.Val2786=)
11g.103220653G>ACA382262708DYNC2H1c.8977G>A (p.Gly2993Arg)
c.2205+86234G>A (n.2205+86234G>A)
c.8956G>A (p.Gly2986Arg)
c.8359G>A (p.Gly2787Arg)
11g.103220653G>CCA382262709DYNC2H1c.8977G>C (p.Gly2993Arg)
c.2205+86234G>C (n.2205+86234G>C)
c.8956G>C (p.Gly2986Arg)
c.8359G>C (p.Gly2787Arg)
11g.103220653G>TCA382262710DYNC2H1c.8977G>T (p.Gly2993Ter)
c.2205+86234G>T (n.2205+86234G>T)
c.8956G>T (p.Gly2986Ter)
c.8359G>T (p.Gly2787Ter)
11g.103220653_103220667delinsGGAAACATTAAGCCCCA1996434101DYNC2H1c.8977_8991delinsGGAAACATTAAGCCC (p.Gly2993=)
c.2205+86234_2205+86248delinsGGAAACATTAAGCCC (n.2205+86234_2205+86248delinsGGAAACATTAAGCCC)
c.8956_8970delinsGGAAACATTAAGCCC (p.Gly2986=)
c.8359_8373delinsGGAAACATTAAGCCC (p.Gly2787=)
11g.103220654G>ACA382262713DYNC2H1c.8978G>A (p.Gly2993Glu)
c.2205+86235G>A (n.2205+86235G>A)
c.8957G>A (p.Gly2986Glu)
c.8360G>A (p.Gly2787Glu)
11g.103220654G>CCA382262711DYNC2H1c.8978G>C (p.Gly2993Ala)
c.2205+86235G>C (n.2205+86235G>C)
c.8957G>C (p.Gly2986Ala)
c.8360G>C (p.Gly2787Ala)
11g.103220654G>TCA382262712DYNC2H1c.8978G>T (p.Gly2993Val)
c.2205+86235G>T (n.2205+86235G>T)
c.8957G>T (p.Gly2986Val)
c.8360G>T (p.Gly2787Val)
11g.103220657_103220670delCA941662490DYNC2H1c.8981_8994del (p.Asn2994IlefsTer13)
c.2205+86238_2205+86251del (n.2205+86238_2205+86251del)
c.8960_8973del (p.Asn2987IlefsTer13)
c.8363_8376del (p.Asn2788IlefsTer13)
 dbSNP gnomAD v3 gnomAD v4
11g.103220655A>CCA476622101DYNC2H1c.8979A>C (p.Gly2993=)
c.2205+86236A>C (n.2205+86236A>C)
c.8958A>C (p.Gly2986=)
c.8361A>C (p.Gly2787=)
11g.103220655A>GCA476622104DYNC2H1c.8979A>G (p.Gly2993=)
c.2205+86236A>G (n.2205+86236A>G)
c.8958A>G (p.Gly2986=)
c.8361A>G (p.Gly2787=)
11g.103220655A>TCA476622103DYNC2H1c.8979A>T (p.Gly2993=)
c.2205+86236A>T (n.2205+86236A>T)
c.8958A>T (p.Gly2986=)
c.8361A>T (p.Gly2787=)
11g.103220656A>CCA382262714DYNC2H1c.8980A>C (p.Asn2994His)
c.2205+86237A>C (n.2205+86237A>C)
c.8959A>C (p.Asn2987His)
c.8362A>C (p.Asn2788His)
11g.103220656A>GCA382262715DYNC2H1c.8980A>G (p.Asn2994Asp)
c.2205+86237A>G (n.2205+86237A>G)
c.8959A>G (p.Asn2987Asp)
c.8362A>G (p.Asn2788Asp)
11g.103220656A>TCA382262716DYNC2H1c.8980A>T (p.Asn2994Tyr)
c.2205+86237A>T (n.2205+86237A>T)
c.8959A>T (p.Asn2987Tyr)
c.8362A>T (p.Asn2788Tyr)
11g.103220657A>CCA382262717DYNC2H1c.8981A>C (p.Asn2994Thr)
c.2205+86238A>C (n.2205+86238A>C)
c.8960A>C (p.Asn2987Thr)
c.8363A>C (p.Asn2788Thr)
11g.103220657A>GCA382262718DYNC2H1c.8981A>G (p.Asn2994Ser)
c.2205+86238A>G (n.2205+86238A>G)
c.8960A>G (p.Asn2987Ser)
c.8363A>G (p.Asn2788Ser)
11g.103220657A>TCA382262719DYNC2H1c.8981A>T (p.Asn2994Ile)
c.2205+86238A>T (n.2205+86238A>T)
c.8960A>T (p.Asn2987Ile)
c.8363A>T (p.Asn2788Ile)
11g.103220658C>ACA382262720DYNC2H1c.8982C>A (p.Asn2994Lys)
c.2205+86239C>A (n.2205+86239C>A)
c.8961C>A (p.Asn2987Lys)
c.8364C>A (p.Asn2788Lys)
11g.103220658C>GCA382262721DYNC2H1c.8982C>G (p.Asn2994Lys)
c.2205+86239C>G (n.2205+86239C>G)
c.8961C>G (p.Asn2987Lys)
c.8364C>G (p.Asn2788Lys)
11g.103220658C>TCA476622111DYNC2H1c.8982C>T (p.Asn2994=)
c.2205+86239C>T (n.2205+86239C>T)
c.8961C>T (p.Asn2987=)
c.8364C>T (p.Asn2788=)
11g.103220659A>CCA382262722DYNC2H1c.8983A>C (p.Ile2995Leu)
c.2205+86240A>C (n.2205+86240A>C)
c.8962A>C (p.Ile2988Leu)
c.8365A>C (p.Ile2789Leu)
11g.103220659A>GCA382262724DYNC2H1c.8983A>G (p.Ile2995Val)
c.2205+86240A>G (n.2205+86240A>G)
c.8962A>G (p.Ile2988Val)
c.8365A>G (p.Ile2789Val)
11g.103220659A>TCA382262723DYNC2H1c.8983A>T (p.Ile2995Phe)
c.2205+86240A>T (n.2205+86240A>T)
c.8962A>T (p.Ile2988Phe)
c.8365A>T (p.Ile2789Phe)
11g.103220660T>ACA382262725DYNC2H1c.8984T>A (p.Ile2995Asn)
c.2205+86241T>A (n.2205+86241T>A)
c.8963T>A (p.Ile2988Asn)
c.8366T>A (p.Ile2789Asn)
11g.103220660T>CCA382262727DYNC2H1c.8984T>C (p.Ile2995Thr)
c.2205+86241T>C (n.2205+86241T>C)
c.8963T>C (p.Ile2988Thr)
c.8366T>C (p.Ile2789Thr)
11g.103220660T>GCA382262726DYNC2H1c.8984T>G (p.Ile2995Ser)
c.2205+86241T>G (n.2205+86241T>G)
c.8963T>G (p.Ile2988Ser)
c.8366T>G (p.Ile2789Ser)
11g.103220661T>ACA476622116DYNC2H1c.8985T>A (p.Ile2995=)
c.2205+86242T>A (n.2205+86242T>A)
c.8964T>A (p.Ile2988=)
c.8367T>A (p.Ile2789=)
11g.103220661T>CCA476622118DYNC2H1c.8985T>C (p.Ile2995=)
c.2205+86242T>C (n.2205+86242T>C)
c.8964T>C (p.Ile2988=)
c.8367T>C (p.Ile2789=)
11g.103220661T>GCA382262728DYNC2H1c.8985T>G (p.Ile2995Met)
c.2205+86242T>G (n.2205+86242T>G)
c.8964T>G (p.Ile2988Met)
c.8367T>G (p.Ile2789Met)
11g.103220662A>CCA382262730DYNC2H1c.8986A>C (p.Lys2996Gln)
c.2205+86243A>C (n.2205+86243A>C)
c.8965A>C (p.Lys2989Gln)
c.8368A>C (p.Lys2790Gln)
11g.103220662A>GCA382262729DYNC2H1c.8986A>G (p.Lys2996Glu)
c.2205+86243A>G (n.2205+86243A>G)
c.8965A>G (p.Lys2989Glu)
c.8368A>G (p.Lys2790Glu)
11g.103220662A>TCA382262731DYNC2H1c.8986A>T (p.Lys2996Ter)
c.2205+86243A>T (n.2205+86243A>T)
c.8965A>T (p.Lys2989Ter)
c.8368A>T (p.Lys2790Ter)
11g.103220663A>CCA382262732DYNC2H1c.8987A>C (p.Lys2996Thr)
c.2205+86244A>C (n.2205+86244A>C)
c.8966A>C (p.Lys2989Thr)
c.8369A>C (p.Lys2790Thr)
11g.103220663A>GCA382262733DYNC2H1c.8987A>G (p.Lys2996Arg)
c.2205+86244A>G (n.2205+86244A>G)
c.8966A>G (p.Lys2989Arg)
c.8369A>G (p.Lys2790Arg)
11g.103220663A>TCA382262734DYNC2H1c.8987A>T (p.Lys2996Met)
c.2205+86244A>T (n.2205+86244A>T)
c.8966A>T (p.Lys2989Met)
c.8369A>T (p.Lys2790Met)
11g.103220664G>ACA476622125DYNC2H1c.8988G>A (p.Lys2996=)
c.2205+86245G>A (n.2205+86245G>A)
c.8967G>A (p.Lys2989=)
c.8370G>A (p.Lys2790=)
11g.103220664G>CCA382262735DYNC2H1c.8988G>C (p.Lys2996Asn)
c.2205+86245G>C (n.2205+86245G>C)
c.8967G>C (p.Lys2989Asn)
c.8370G>C (p.Lys2790Asn)
11g.103220664G=CA1996434102DYNC2H1c.8988G= (p.Lys2996=)
c.2205+86245G= (n.2205+86245G=)
c.8967G= (p.Lys2989=)
c.8370G= (p.Lys2790=)
11g.103220664G>TCA227417208DYNC2H1c.8988G>T (p.Lys2996Asn)
c.2205+86245G>T (n.2205+86245G>T)
c.8967G>T (p.Lys2989Asn)
c.8370G>T (p.Lys2790Asn)
 dbSNP
11g.103220665C>ACA382262736DYNC2H1c.8989C>A (p.Pro2997Thr)
c.2205+86246C>A (n.2205+86246C>A)
c.8968C>A (p.Pro2990Thr)
c.8371C>A (p.Pro2791Thr)
11g.103220665C=CA1996434103DYNC2H1c.8989C= (p.Pro2997=)
c.2205+86246C= (n.2205+86246C=)
c.8968C= (p.Pro2990=)
c.8371C= (p.Pro2791=)
11g.103220665C>GCA382262737DYNC2H1c.8989C>G (p.Pro2997Ala)
c.2205+86246C>G (n.2205+86246C>G)
c.8968C>G (p.Pro2990Ala)
c.8371C>G (p.Pro2791Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.103220665C>TCA6254581DYNC2H1c.8989C>T (p.Pro2997Ser)
c.2205+86246C>T (n.2205+86246C>T)
c.8968C>T (p.Pro2990Ser)
c.8371C>T (p.Pro2791Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.103220666C>ACA382262738DYNC2H1c.8990C>A (p.Pro2997His)
c.2205+86247C>A (n.2205+86247C>A)
c.8969C>A (p.Pro2990His)
c.8372C>A (p.Pro2791His)
11g.103220666C>GCA382262739DYNC2H1c.8990C>G (p.Pro2997Arg)
c.2205+86247C>G (n.2205+86247C>G)
c.8969C>G (p.Pro2990Arg)
c.8372C>G (p.Pro2791Arg)
11g.103220666C>TCA382262740DYNC2H1c.8990C>T (p.Pro2997Leu)
c.2205+86247C>T (n.2205+86247C>T)
c.8969C>T (p.Pro2990Leu)
c.8372C>T (p.Pro2791Leu)
11g.103220667C>ACA476622133DYNC2H1c.8991C>A (p.Pro2997=)
c.2205+86248C>A (n.2205+86248C>A)
c.8970C>A (p.Pro2990=)
c.8373C>A (p.Pro2791=)
11g.103220667C=CA1996434104DYNC2H1c.8991C= (p.Pro2997=)
c.2205+86248C= (n.2205+86248C=)
c.8970C= (p.Pro2990=)
c.8373C= (p.Pro2791=)
11g.103220667C>GCA6254582DYNC2H1c.8991C>G (p.Pro2997=)
c.2205+86248C>G (n.2205+86248C>G)
c.8970C>G (p.Pro2990=)
c.8373C>G (p.Pro2791=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.103220667C>TCA6254583DYNC2H1c.8991C>T (p.Pro2997=)
c.2205+86248C>T (n.2205+86248C>T)
c.8970C>T (p.Pro2990=)
c.8373C>T (p.Pro2791=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.103220668G>ACA6254584DYNC2H1c.8992G>A (p.Glu2998Lys)
c.2205+86249G>A (n.2205+86249G>A)
c.8971G>A (p.Glu2991Lys)
c.8374G>A (p.Glu2792Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.103220668G>CCA382262742DYNC2H1c.8992G>C (p.Glu2998Gln)
c.2205+86249G>C (n.2205+86249G>C)
c.8971G>C (p.Glu2991Gln)
c.8374G>C (p.Glu2792Gln)
11g.103220668G=CA1996434105DYNC2H1c.8992G= (p.Glu2998=)
c.2205+86249G= (n.2205+86249G=)
c.8971G= (p.Glu2991=)
c.8374G= (p.Glu2792=)
11g.103220668G>TCA382262741DYNC2H1c.8992G>T (p.Glu2998Ter)
c.2205+86249G>T (n.2205+86249G>T)
c.8971G>T (p.Glu2991Ter)
c.8374G>T (p.Glu2792Ter)
 dbSNP gnomAD v2 gnomAD v4
11g.103220669A>CCA382262743DYNC2H1c.8993A>C (p.Glu2998Ala)
c.2205+86250A>C (n.2205+86250A>C)
c.8972A>C (p.Glu2991Ala)
c.8375A>C (p.Glu2792Ala)
11g.103220669A>GCA382262744DYNC2H1c.8993A>G (p.Glu2998Gly)
c.2205+86250A>G (n.2205+86250A>G)
c.8972A>G (p.Glu2991Gly)
c.8375A>G (p.Glu2792Gly)
11g.103220669A>TCA382262745DYNC2H1c.8993A>T (p.Glu2998Val)
c.2205+86250A>T (n.2205+86250A>T)
c.8972A>T (p.Glu2991Val)
c.8375A>T (p.Glu2792Val)
11g.103220670A>CCA382262746DYNC2H1c.8994A>C (p.Glu2998Asp)
c.2205+86251A>C (n.2205+86251A>C)
c.8973A>C (p.Glu2991Asp)
c.8376A>C (p.Glu2792Asp)
11g.103220670A>GCA476622141DYNC2H1c.8994A>G (p.Glu2998=)
c.2205+86251A>G (n.2205+86251A>G)
c.8973A>G (p.Glu2991=)
c.8376A>G (p.Glu2792=)
11g.103220670A>TCA382262747DYNC2H1c.8994A>T (p.Glu2998Asp)
c.2205+86251A>T (n.2205+86251A>T)
c.8973A>T (p.Glu2991Asp)
c.8376A>T (p.Glu2792Asp)
11g.103220671T>ACA382262748DYNC2H1c.8995T>A (p.Ser2999Thr)
c.2205+86252T>A (n.2205+86252T>A)
c.8974T>A (p.Ser2992Thr)
c.8377T>A (p.Ser2793Thr)
11g.103220671T>CCA382262749DYNC2H1c.8995T>C (p.Ser2999Pro)
c.2205+86252T>C (n.2205+86252T>C)
c.8974T>C (p.Ser2992Pro)
c.8377T>C (p.Ser2793Pro)
11g.103220671T>GCA382262750DYNC2H1c.8995T>G (p.Ser2999Ala)
c.2205+86252T>G (n.2205+86252T>G)
c.8974T>G (p.Ser2992Ala)
c.8377T>G (p.Ser2793Ala)
 gnomAD v4
11g.103220672C>ACA382262751DYNC2H1c.8996C>A (p.Ser2999Ter)
c.2205+86253C>A (n.2205+86253C>A)
c.8975C>A (p.Ser2992Ter)
c.8378C>A (p.Ser2793Ter)
11g.103220672C=CA1996434106DYNC2H1c.8996C= (p.Ser2999=)
c.2205+86253C= (n.2205+86253C=)
c.8975C= (p.Ser2992=)
c.8378C= (p.Ser2793=)
11g.103220672C>GCA382262752DYNC2H1c.8996C>G (p.Ser2999Ter)
c.2205+86253C>G (n.2205+86253C>G)
c.8975C>G (p.Ser2992Ter)
c.8378C>G (p.Ser2793Ter)
 dbSNP
11g.103220672C>TCA382262753DYNC2H1c.8996C>T (p.Ser2999Leu)
c.2205+86253C>T (n.2205+86253C>T)
c.8975C>T (p.Ser2992Leu)
c.8378C>T (p.Ser2793Leu)
11g.103220673A>CCA476622147DYNC2H1c.8997A>C (p.Ser2999=)
c.2205+86254A>C (n.2205+86254A>C)
c.8976A>C (p.Ser2992=)
c.8379A>C (p.Ser2793=)
11g.103220673A>GCA476622149DYNC2H1c.8997A>G (p.Ser2999=)
c.2205+86254A>G (n.2205+86254A>G)
c.8976A>G (p.Ser2992=)
c.8379A>G (p.Ser2793=)
 ClinVar
11g.103220673A>TCA476622151DYNC2H1c.8997A>T (p.Ser2999=)
c.2205+86254A>T (n.2205+86254A>T)
c.8976A>T (p.Ser2992=)
c.8379A>T (p.Ser2793=)
 gnomAD v4
11g.103220674C>ACA382262754DYNC2H1c.8998C>A (p.Leu3000Ile)
c.2205+86255C>A (n.2205+86255C>A)
c.8977C>A (p.Leu2993Ile)
c.8380C>A (p.Leu2794Ile)
11g.103220674C=CA1996434107DYNC2H1c.8998C= (p.Leu3000=)
c.2205+86255C= (n.2205+86255C=)
c.8977C= (p.Leu2993=)
c.8380C= (p.Leu2794=)
11g.103220674C>GCA382262755DYNC2H1c.8998C>G (p.Leu3000Val)
c.2205+86255C>G (n.2205+86255C>G)
c.8977C>G (p.Leu2993Val)
c.8380C>G (p.Leu2794Val)
11g.103220674C>TCA382262756DYNC2H1c.8998C>T (p.Leu3000Phe)
c.2205+86255C>T (n.2205+86255C>T)
c.8977C>T (p.Leu2993Phe)
c.8380C>T (p.Leu2794Phe)
 dbSNP
11g.103220675T>ACA382262758DYNC2H1c.8999T>A (p.Leu3000His)
c.2205+86256T>A (n.2205+86256T>A)
c.8978T>A (p.Leu2993His)
c.8381T>A (p.Leu2794His)
11g.103220675T>CCA382262759DYNC2H1c.8999T>C (p.Leu3000Pro)
c.2205+86256T>C (n.2205+86256T>C)
c.8978T>C (p.Leu2993Pro)
c.8381T>C (p.Leu2794Pro)
11g.103220675T>GCA382262757DYNC2H1c.8999T>G (p.Leu3000Arg)
c.2205+86256T>G (n.2205+86256T>G)
c.8978T>G (p.Leu2993Arg)
c.8381T>G (p.Leu2794Arg)
11g.103220676T>ACA476622157DYNC2H1c.9000T>A (p.Leu3000=)
c.2205+86257T>A (n.2205+86257T>A)
c.8979T>A (p.Leu2993=)
c.8382T>A (p.Leu2794=)
11g.103220676T>CCA476622158DYNC2H1c.9000T>C (p.Leu3000=)
c.2205+86257T>C (n.2205+86257T>C)
c.8979T>C (p.Leu2993=)
c.8382T>C (p.Leu2794=)
11g.103220676T>GCA476622160DYNC2H1c.9000T>G (p.Leu3000=)
c.2205+86257T>G (n.2205+86257T>G)
c.8979T>G (p.Leu2993=)
c.8382T>G (p.Leu2794=)
11g.103220677T>ACA382262760DYNC2H1c.9001T>A (p.Ser3001Thr)
c.2205+86258T>A (n.2205+86258T>A)
c.8980T>A (p.Ser2994Thr)
c.8383T>A (p.Ser2795Thr)
11g.103220677T>CCA382262761DYNC2H1c.9001T>C (p.Ser3001Pro)
c.2205+86258T>C (n.2205+86258T>C)
c.8980T>C (p.Ser2994Pro)
c.8383T>C (p.Ser2795Pro)
 gnomAD v4
11g.103220677T>GCA382262762DYNC2H1c.9001T>G (p.Ser3001Ala)
c.2205+86258T>G (n.2205+86258T>G)
c.8980T>G (p.Ser2994Ala)
c.8383T>G (p.Ser2795Ala)
11g.103220678C>ACA382262763DYNC2H1c.9002C>A (p.Ser3001Ter)
c.2205+86259C>A (n.2205+86259C>A)
c.8981C>A (p.Ser2994Ter)
c.8384C>A (p.Ser2795Ter)
11g.103220678C>GCA382262764DYNC2H1c.9002C>G (p.Ser3001Ter)
c.2205+86259C>G (n.2205+86259C>G)
c.8981C>G (p.Ser2994Ter)
c.8384C>G (p.Ser2795Ter)
 gnomAD v4
11g.103220678C>TCA382262765DYNC2H1c.9002C>T (p.Ser3001Leu)
c.2205+86259C>T (n.2205+86259C>T)
c.8981C>T (p.Ser2994Leu)
c.8384C>T (p.Ser2795Leu)
11g.103220679A=CA1996434108DYNC2H1c.9003A= (p.Ser3001=)
c.2205+86260A= (n.2205+86260A=)
c.8982A= (p.Ser2994=)
c.8385A= (p.Ser2795=)
11g.103220679A>CCA476622166DYNC2H1c.9003A>C (p.Ser3001=)
c.2205+86260A>C (n.2205+86260A>C)
c.8982A>C (p.Ser2994=)
c.8385A>C (p.Ser2795=)
 dbSNP gnomAD v2 gnomAD v4
11g.103220679A>GCA476622167DYNC2H1c.9003A>G (p.Ser3001=)
c.2205+86260A>G (n.2205+86260A>G)
c.8982A>G (p.Ser2994=)
c.8385A>G (p.Ser2795=)
11g.103220679A>TCA476622169DYNC2H1c.9003A>T (p.Ser3001=)
c.2205+86260A>T (n.2205+86260A>T)
c.8982A>T (p.Ser2994=)
c.8385A>T (p.Ser2795=)
11g.103220680G>ACA382262768DYNC2H1c.9004G>A (p.Glu3002Lys)
c.2205+86261G>A (n.2205+86261G>A)
c.8983G>A (p.Glu2995Lys)
c.8386G>A (p.Glu2796Lys)
11g.103220680G>CCA382262766DYNC2H1c.9004G>C (p.Glu3002Gln)
c.2205+86261G>C (n.2205+86261G>C)
c.8983G>C (p.Glu2995Gln)
c.8386G>C (p.Glu2796Gln)
11g.103220680G>TCA382262767DYNC2H1c.9004G>T (p.Glu3002Ter)
c.2205+86261G>T (n.2205+86261G>T)
c.8983G>T (p.Glu2995Ter)
c.8386G>T (p.Glu2796Ter)
11g.103220681A>CCA382262769DYNC2H1c.9005A>C (p.Glu3002Ala)
c.2205+86262A>C (n.2205+86262A>C)
c.8984A>C (p.Glu2995Ala)
c.8387A>C (p.Glu2796Ala)
11g.103220681A>GCA382262770DYNC2H1c.9005A>G (p.Glu3002Gly)
c.2205+86262A>G (n.2205+86262A>G)
c.8984A>G (p.Glu2995Gly)
c.8387A>G (p.Glu2796Gly)
11g.103220681A>TCA382262771DYNC2H1c.9005A>T (p.Glu3002Val)
c.2205+86262A>T (n.2205+86262A>T)
c.8984A>T (p.Glu2995Val)
c.8387A>T (p.Glu2796Val)
11g.103220682A>CCA382262772DYNC2H1c.9006A>C (p.Glu3002Asp)
c.2205+86263A>C (n.2205+86263A>C)
c.8985A>C (p.Glu2995Asp)
c.8388A>C (p.Glu2796Asp)
11g.103220682A>GCA476622176DYNC2H1c.9006A>G (p.Glu3002=)
c.2205+86263A>G (n.2205+86263A>G)
c.8985A>G (p.Glu2995=)
c.8388A>G (p.Glu2796=)
11g.103220682A>TCA382262773DYNC2H1c.9006A>T (p.Glu3002Asp)
c.2205+86263A>T (n.2205+86263A>T)
c.8985A>T (p.Glu2995Asp)
c.8388A>T (p.Glu2796Asp)
11g.103220683A=CA1996434109DYNC2H1c.9007A= (p.Ile3003=)
c.2205+86264A= (n.2205+86264A=)
c.8986A= (p.Ile2996=)
c.8389A= (p.Ile2797=)
11g.103220683A>CCA382262774DYNC2H1c.9007A>C (p.Ile3003Leu)
c.2205+86264A>C (n.2205+86264A>C)
c.8986A>C (p.Ile2996Leu)
c.8389A>C (p.Ile2797Leu)
11g.103220683A>GCA6254585DYNC2H1c.9007A>G (p.Ile3003Val)
c.2205+86264A>G (n.2205+86264A>G)
c.8986A>G (p.Ile2996Val)
c.8389A>G (p.Ile2797Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.103220683A>TCA382262775DYNC2H1c.9007A>T (p.Ile3003Phe)
c.2205+86264A>T (n.2205+86264A>T)
c.8986A>T (p.Ile2996Phe)
c.8389A>T (p.Ile2797Phe)
11g.103220684T>ACA382262776DYNC2H1c.9008T>A (p.Ile3003Asn)
c.2205+86265T>A (n.2205+86265T>A)
c.8987T>A (p.Ile2996Asn)
c.8390T>A (p.Ile2797Asn)
11g.103220684T>CCA382262777DYNC2H1c.9008T>C (p.Ile3003Thr)
c.2205+86265T>C (n.2205+86265T>C)
c.8987T>C (p.Ile2996Thr)
c.8390T>C (p.Ile2797Thr)
11g.103220684T>GCA382262778DYNC2H1c.9008T>G (p.Ile3003Ser)
c.2205+86265T>G (n.2205+86265T>G)
c.8987T>G (p.Ile2996Ser)
c.8390T>G (p.Ile2797Ser)
11g.103220685T>ACA476622182DYNC2H1c.9009T>A (p.Ile3003=)
c.2205+86266T>A (n.2205+86266T>A)
c.8988T>A (p.Ile2996=)
c.8391T>A (p.Ile2797=)
11g.103220685T>CCA476622184DYNC2H1c.9009T>C (p.Ile3003=)
c.2205+86266T>C (n.2205+86266T>C)
c.8988T>C (p.Ile2996=)
c.8391T>C (p.Ile2797=)
 gnomAD v4
11g.103220685T>GCA382262779DYNC2H1c.9009T>G (p.Ile3003Met)
c.2205+86266T>G (n.2205+86266T>G)
c.8988T>G (p.Ile2996Met)
c.8391T>G (p.Ile2797Met)
11g.103220686C>ACA382262780DYNC2H1c.9010C>A (p.Arg3004Ser)
c.2205+86267C>A (n.2205+86267C>A)
c.8989C>A (p.Arg2997Ser)
c.8392C>A (p.Arg2798Ser)
11g.103220686C=CA1996434110DYNC2H1c.9010C= (p.Arg3004=)
c.2205+86267C= (n.2205+86267C=)
c.8989C= (p.Arg2997=)
c.8392C= (p.Arg2798=)
11g.103220686C>GCA382262781DYNC2H1c.9010C>G (p.Arg3004Gly)
c.2205+86267C>G (n.2205+86267C>G)
c.8989C>G (p.Arg2997Gly)
c.8392C>G (p.Arg2798Gly)
11g.103220686C>TCA6254586DYNC2H1c.9010C>T (p.Arg3004Cys)
c.2205+86267C>T (n.2205+86267C>T)
c.8989C>T (p.Arg2997Cys)
c.8392C>T (p.Arg2798Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.103220687G>ACA6254587DYNC2H1c.9011G>A (p.Arg3004His)
c.2205+86268G>A (n.2205+86268G>A)
c.8990G>A (p.Arg2997His)
c.8393G>A (p.Arg2798His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.103220687G>CCA382262782DYNC2H1c.9011G>C (p.Arg3004Pro)
c.2205+86268G>C (n.2205+86268G>C)
c.8990G>C (p.Arg2997Pro)
c.8393G>C (p.Arg2798Pro)
11g.103220687G=CA1996434111DYNC2H1c.9011G= (p.Arg3004=)
c.2205+86268G= (n.2205+86268G=)
c.8990G= (p.Arg2997=)
c.8393G= (p.Arg2798=)
11g.103220687G>TCA382262783DYNC2H1c.9011G>T (p.Arg3004Leu)
c.2205+86268G>T (n.2205+86268G>T)
c.8990G>T (p.Arg2997Leu)
c.8393G>T (p.Arg2798Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.103220688C>ACA476622191DYNC2H1c.9012C>A (p.Arg3004=)
c.2205+86269C>A (n.2205+86269C>A)
c.8991C>A (p.Arg2997=)
c.8394C>A (p.Arg2798=)
11g.103220688C>GCA476622193DYNC2H1c.9012C>G (p.Arg3004=)
c.2205+86269C>G (n.2205+86269C>G)
c.8991C>G (p.Arg2997=)
c.8394C>G (p.Arg2798=)
11g.103220688C>TCA476622194DYNC2H1c.9012C>T (p.Arg3004=)
c.2205+86269C>T (n.2205+86269C>T)
c.8991C>T (p.Arg2997=)
c.8394C>T (p.Arg2798=)
 gnomAD v4 COSMIC
11g.103220689T>ACA382262784DYNC2H1c.9013T>A (p.Ser3005Thr)
c.2205+86270T>A (n.2205+86270T>A)
c.8992T>A (p.Ser2998Thr)
c.8395T>A (p.Ser2799Thr)
11g.103220689T>CCA382262786DYNC2H1c.9013T>C (p.Ser3005Pro)
c.2205+86270T>C (n.2205+86270T>C)
c.8992T>C (p.Ser2998Pro)
c.8395T>C (p.Ser2799Pro)
11g.103220689T>GCA382262785DYNC2H1c.9013T>G (p.Ser3005Ala)
c.2205+86270T>G (n.2205+86270T>G)
c.8992T>G (p.Ser2998Ala)
c.8395T>G (p.Ser2799Ala)
11g.103220690C>ACA382262787DYNC2H1c.9014C>A (p.Ser3005Ter)
c.2205+86271C>A (n.2205+86271C>A)
c.8993C>A (p.Ser2998Ter)
c.8396C>A (p.Ser2799Ter)
11g.103220690C>GCA382262788DYNC2H1c.9014C>G (p.Ser3005Ter)
c.2205+86271C>G (n.2205+86271C>G)
c.8993C>G (p.Ser2998Ter)
c.8396C>G (p.Ser2799Ter)
11g.103220690C>TCA382262789DYNC2H1c.9014C>T (p.Ser3005Leu)
c.2205+86271C>T (n.2205+86271C>T)
c.8993C>T (p.Ser2998Leu)
c.8396C>T (p.Ser2799Leu)
11g.103220691A=CA1996434112DYNC2H1c.9015A= (p.Ser3005=)
c.2205+86272A= (n.2205+86272A=)
c.8994A= (p.Ser2998=)
c.8397A= (p.Ser2799=)
11g.103220691A>CCA476622202DYNC2H1c.9015A>C (p.Ser3005=)
c.2205+86272A>C (n.2205+86272A>C)
c.8994A>C (p.Ser2998=)
c.8397A>C (p.Ser2799=)
11g.103220691A>GCA476622203DYNC2H1c.9015A>G (p.Ser3005=)
c.2205+86272A>G (n.2205+86272A>G)
c.8994A>G (p.Ser2998=)
c.8397A>G (p.Ser2799=)
11g.103220691A>TCA476622201DYNC2H1c.9015A>T (p.Ser3005=)
c.2205+86272A>T (n.2205+86272A>T)
c.8994A>T (p.Ser2998=)
c.8397A>T (p.Ser2799=)
 dbSNP gnomAD v3 gnomAD v4
11g.103220692C>ACA382262790DYNC2H1c.9016C>A (p.Leu3006Ile)
c.2205+86273C>A (n.2205+86273C>A)
c.8995C>A (p.Leu2999Ile)
c.8398C>A (p.Leu2800Ile)
11g.103220692C>GCA382262791DYNC2H1c.9016C>G (p.Leu3006Val)
c.2205+86273C>G (n.2205+86273C>G)
c.8995C>G (p.Leu2999Val)
c.8398C>G (p.Leu2800Val)
11g.103220692C>TCA476622207DYNC2H1c.9016C>T (p.Leu3006=)
c.2205+86273C>T (n.2205+86273C>T)
c.8995C>T (p.Leu2999=)
c.8398C>T (p.Leu2800=)
 ClinVar gnomAD v4
11g.103220693T>ACA382262794DYNC2H1c.9017T>A (p.Leu3006Gln)
c.2205+86274T>A (n.2205+86274T>A)
c.8996T>A (p.Leu2999Gln)
c.8399T>A (p.Leu2800Gln)
11g.103220693T>CCA382262793DYNC2H1c.9017T>C (p.Leu3006Pro)
c.2205+86274T>C (n.2205+86274T>C)
c.8996T>C (p.Leu2999Pro)
c.8399T>C (p.Leu2800Pro)
11g.103220693T>GCA382262792DYNC2H1c.9017T>G (p.Leu3006Arg)
c.2205+86274T>G (n.2205+86274T>G)
c.8996T>G (p.Leu2999Arg)
c.8399T>G (p.Leu2800Arg)
11g.103220694A>CCA476622212DYNC2H1c.9018A>C (p.Leu3006=)
c.2205+86275A>C (n.2205+86275A>C)
c.8997A>C (p.Leu2999=)
c.8400A>C (p.Leu2800=)
11g.103220694A>GCA476622209DYNC2H1c.9018A>G (p.Leu3006=)
c.2205+86275A>G (n.2205+86275A>G)
c.8997A>G (p.Leu2999=)
c.8400A>G (p.Leu2800=)
 COSMIC
11g.103220694A>TCA476622210DYNC2H1c.9018A>T (p.Leu3006=)
c.2205+86275A>T (n.2205+86275A>T)
c.8997A>T (p.Leu2999=)
c.8400A>T (p.Leu2800=)
11g.103220695C>ACA382262795DYNC2H1c.9019C>A (p.Arg3007Ser)
c.2205+86276C>A (n.2205+86276C>A)
c.8998C>A (p.Arg3000Ser)
c.8401C>A (p.Arg2801Ser)
11g.103220695C=CA1996434113DYNC2H1c.9019C= (p.Arg3007=)
c.2205+86276C= (n.2205+86276C=)
c.8998C= (p.Arg3000=)
c.8401C= (p.Arg2801=)
11g.103220695C>GCA382262796DYNC2H1c.9019C>G (p.Arg3007Gly)
c.2205+86276C>G (n.2205+86276C>G)
c.8998C>G (p.Arg3000Gly)
c.8401C>G (p.Arg2801Gly)
11g.103220695C>TCA382262797DYNC2H1c.9019C>T (p.Arg3007Cys)
c.2205+86276C>T (n.2205+86276C>T)
c.8998C>T (p.Arg3000Cys)
c.8401C>T (p.Arg2801Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.103220696G>ACA382262798DYNC2H1c.9020G>A (p.Arg3007His)
c.2205+86277G>A (n.2205+86277G>A)
c.8999G>A (p.Arg3000His)
c.8402G>A (p.Arg2801His)
 dbSNP gnomAD v3 gnomAD v4
11g.103220696G>CCA382262799DYNC2H1c.9020G>C (p.Arg3007Pro)
c.2205+86277G>C (n.2205+86277G>C)
c.8999G>C (p.Arg3000Pro)
c.8402G>C (p.Arg2801Pro)
11g.103220696G=CA1996434114DYNC2H1c.9020G= (p.Arg3007=)
c.2205+86277G= (n.2205+86277G=)
c.8999G= (p.Arg3000=)
c.8402G= (p.Arg2801=)
11g.103220696G>TCA382262800DYNC2H1c.9020G>T (p.Arg3007Leu)
c.2205+86277G>T (n.2205+86277G>T)
c.8999G>T (p.Arg3000Leu)
c.8402G>T (p.Arg2801Leu)
11g.103220697C>ACA476622216DYNC2H1c.9021C>A (p.Arg3007=)
c.2205+86278C>A (n.2205+86278C>A)
c.9000C>A (p.Arg3000=)
c.8403C>A (p.Arg2801=)
11g.103220697C>GCA476622220DYNC2H1c.9021C>G (p.Arg3007=)
c.2205+86278C>G (n.2205+86278C>G)
c.9000C>G (p.Arg3000=)
c.8403C>G (p.Arg2801=)
11g.103220697C>TCA476622218DYNC2H1c.9021C>T (p.Arg3007=)
c.2205+86278C>T (n.2205+86278C>T)
c.9000C>T (p.Arg3000=)
c.8403C>T (p.Arg2801=)
11g.103220698A=CA1996434115DYNC2H1c.9022A= (p.Met3008=)
c.2205+86279A= (n.2205+86279A=)
c.9001A= (p.Met3001=)
c.8404A= (p.Met2802=)
11g.103220698A>CCA382262803DYNC2H1c.9022A>C (p.Met3008Leu)
c.2205+86279A>C (n.2205+86279A>C)
c.9001A>C (p.Met3001Leu)
c.8404A>C (p.Met2802Leu)
11g.103220698A>GCA382262801DYNC2H1c.9022A>G (p.Met3008Val)
c.2205+86279A>G (n.2205+86279A>G)
c.9001A>G (p.Met3001Val)
c.8404A>G (p.Met2802Val)
 dbSNP gnomAD v4
11g.103220698A>TCA382262802DYNC2H1c.9022A>T (p.Met3008Leu)
c.2205+86279A>T (n.2205+86279A>T)
c.9001A>T (p.Met3001Leu)
c.8404A>T (p.Met2802Leu)
 dbSNP
11g.103220699T>ACA382262804DYNC2H1c.9023T>A (p.Met3008Lys)
c.2205+86280T>A (n.2205+86280T>A)
c.9002T>A (p.Met3001Lys)
c.8405T>A (p.Met2802Lys)
11g.103220699T>CCA382262805DYNC2H1c.9023T>C (p.Met3008Thr)
c.2205+86280T>C (n.2205+86280T>C)
c.9002T>C (p.Met3001Thr)
c.8405T>C (p.Met2802Thr)
11g.103220699T>GCA382262806DYNC2H1c.9023T>G (p.Met3008Arg)
c.2205+86280T>G (n.2205+86280T>G)
c.9002T>G (p.Met3001Arg)
c.8405T>G (p.Met2802Arg)
11g.103220700G>ACA382262807DYNC2H1c.9024G>A (p.Met3008Ile)
c.2205+86281G>A (n.2205+86281G>A)
c.9003G>A (p.Met3001Ile)
c.8406G>A (p.Met2802Ile)
11g.103220700G>CCA382262808DYNC2H1c.9024G>C (p.Met3008Ile)
c.2205+86281G>C (n.2205+86281G>C)
c.9003G>C (p.Met3001Ile)
c.8406G>C (p.Met2802Ile)
11g.103220700G>TCA382262809DYNC2H1c.9024G>T (p.Met3008Ile)
c.2205+86281G>T (n.2205+86281G>T)
c.9003G>T (p.Met3001Ile)
c.8406G>T (p.Met2802Ile)
11g.103220701C>ACA382262810DYNC2H1c.9025C>A (p.Pro3009Thr)
c.2205+86282C>A (n.2205+86282C>A)
c.9004C>A (p.Pro3002Thr)
c.8407C>A (p.Pro2803Thr)
11g.103220701C>GCA382262811DYNC2H1c.9025C>G (p.Pro3009Ala)
c.2205+86282C>G (n.2205+86282C>G)
c.9004C>G (p.Pro3002Ala)
c.8407C>G (p.Pro2803Ala)
 COSMIC
11g.103220701C>TCA382262812DYNC2H1c.9025C>T (p.Pro3009Ser)
c.2205+86282C>T (n.2205+86282C>T)
c.9004C>T (p.Pro3002Ser)
c.8407C>T (p.Pro2803Ser)
11g.103220702C>ACA382262813DYNC2H1c.9026C>A (p.Pro3009Gln)
c.2205+86283C>A (n.2205+86283C>A)
c.9005C>A (p.Pro3002Gln)
c.8408C>A (p.Pro2803Gln)
11g.103220702C>GCA382262814DYNC2H1c.9026C>G (p.Pro3009Arg)
c.2205+86283C>G (n.2205+86283C>G)
c.9005C>G (p.Pro3002Arg)
c.8408C>G (p.Pro2803Arg)
11g.103220702C>TCA382262815DYNC2H1c.9026C>T (p.Pro3009Leu)
c.2205+86283C>T (n.2205+86283C>T)
c.9005C>T (p.Pro3002Leu)
c.8408C>T (p.Pro2803Leu)
 gnomAD v4
11g.103220703A>CCA476622230DYNC2H1c.9027A>C (p.Pro3009=)
c.2205+86284A>C (n.2205+86284A>C)
c.9006A>C (p.Pro3002=)
c.8409A>C (p.Pro2803=)
11g.103220703A>GCA476622231DYNC2H1c.9027A>G (p.Pro3009=)
c.2205+86284A>G (n.2205+86284A>G)
c.9006A>G (p.Pro3002=)
c.8409A>G (p.Pro2803=)
11g.103220703A>TCA476622232DYNC2H1c.9027A>T (p.Pro3009=)
c.2205+86284A>T (n.2205+86284A>T)
c.9006A>T (p.Pro3002=)
c.8409A>T (p.Pro2803=)
11g.103220703_103220706delCA2615748870DYNC2H1c.9027_9030del (p.Pro3010MetfsTer2)
c.2205+86284_2205+86287del (n.2205+86284_2205+86287del)
c.9006_9009del (p.Pro3003MetfsTer2)
c.8409_8412del (p.Pro2804MetfsTer2)
 gnomAD v4
11g.103220704C>ACA382262816DYNC2H1c.9028C>A (p.Pro3010Thr)
c.2205+86285C>A (n.2205+86285C>A)
c.9007C>A (p.Pro3003Thr)
c.8410C>A (p.Pro2804Thr)
11g.103220704C>GCA382262818DYNC2H1c.9028C>G (p.Pro3010Ala)
c.2205+86285C>G (n.2205+86285C>G)
c.9007C>G (p.Pro3003Ala)
c.8410C>G (p.Pro2804Ala)
11g.103220704C>TCA382262817DYNC2H1c.9028C>T (p.Pro3010Ser)
c.2205+86285C>T (n.2205+86285C>T)
c.9007C>T (p.Pro3003Ser)
c.8410C>T (p.Pro2804Ser)
11g.103220705C>ACA382262819DYNC2H1c.9029C>A (p.Pro3010His)
c.2205+86286C>A (n.2205+86286C>A)
c.9008C>A (p.Pro3003His)
c.8411C>A (p.Pro2804His)
11g.103220705C>GCA382262820DYNC2H1c.9029C>G (p.Pro3010Arg)
c.2205+86286C>G (n.2205+86286C>G)
c.9008C>G (p.Pro3003Arg)
c.8411C>G (p.Pro2804Arg)
 gnomAD v4
11g.103220705C>TCA382262821DYNC2H1c.9029C>T (p.Pro3010Leu)
c.2205+86286C>T (n.2205+86286C>T)
c.9008C>T (p.Pro3003Leu)
c.8411C>T (p.Pro2804Leu)
 gnomAD v4
11g.103220706T>ACA476622239DYNC2H1c.9030T>A (p.Pro3010=)
c.2205+86287T>A (n.2205+86287T>A)
c.9009T>A (p.Pro3003=)
c.8412T>A (p.Pro2804=)
11g.103220706T>CCA476622240DYNC2H1c.9030T>C (p.Pro3010=)
c.2205+86287T>C (n.2205+86287T>C)
c.9009T>C (p.Pro3003=)
c.8412T>C (p.Pro2804=)
11g.103220706T>GCA476622242DYNC2H1c.9030T>G (p.Pro3010=)
c.2205+86287T>G (n.2205+86287T>G)
c.9009T>G (p.Pro3003=)
c.8412T>G (p.Pro2804=)
11g.103220707G>ACA382262822DYNC2H1c.9031G>A (p.Asp3011Asn)
c.2205+86288G>A (n.2205+86288G>A)
c.9010G>A (p.Asp3004Asn)
c.8413G>A (p.Asp2805Asn)
11g.103220707G>CCA382262823DYNC2H1c.9031G>C (p.Asp3011His)
c.2205+86288G>C (n.2205+86288G>C)
c.9010G>C (p.Asp3004His)
c.8413G>C (p.Asp2805His)
11g.103220707G=CA1996434116DYNC2H1c.9031G= (p.Asp3011=)
c.2205+86288G= (n.2205+86288G=)
c.9010G= (p.Asp3004=)
c.8413G= (p.Asp2805=)
11g.103220707G>TCA227417220DYNC2H1c.9031G>T (p.Asp3011Tyr)
c.2205+86288G>T (n.2205+86288G>T)
c.9010G>T (p.Asp3004Tyr)
c.8413G>T (p.Asp2805Tyr)
 dbSNP gnomAD v4
11g.103220708A=CA1996434117DYNC2H1c.9032A= (p.Asp3011=)
c.2205+86289A= (n.2205+86289A=)
c.9011A= (p.Asp3004=)
c.8414A= (p.Asp2805=)
11g.103220708A>CCA382262824DYNC2H1c.9032A>C (p.Asp3011Ala)
c.2205+86289A>C (n.2205+86289A>C)
c.9011A>C (p.Asp3004Ala)
c.8414A>C (p.Asp2805Ala)
11g.103220708A>GCA382262825DYNC2H1c.9032A>G (p.Asp3011Gly)
c.2205+86289A>G (n.2205+86289A>G)
c.9011A>G (p.Asp3004Gly)
c.8414A>G (p.Asp2805Gly)
11g.103220708A>TCA382262826DYNC2H1c.9032A>T (p.Asp3011Val)
c.2205+86289A>T (n.2205+86289A>T)
c.9011A>T (p.Asp3004Val)
c.8414A>T (p.Asp2805Val)
 dbSNP gnomAD v4
11g.103220709T>ACA382262827DYNC2H1c.9033T>A (p.Asp3011Glu)
c.2205+86290T>A (n.2205+86290T>A)
c.9012T>A (p.Asp3004Glu)
c.8415T>A (p.Asp2805Glu)
11g.103220709T>CCA476622248DYNC2H1c.9033T>C (p.Asp3011=)
c.2205+86290T>C (n.2205+86290T>C)
c.9012T>C (p.Asp3004=)
c.8415T>C (p.Asp2805=)
 ClinVar gnomAD v4
11g.103220709T>GCA382262828DYNC2H1c.9033T>G (p.Asp3011Glu)
c.2205+86290T>G (n.2205+86290T>G)
c.9012T>G (p.Asp3004Glu)
c.8415T>G (p.Asp2805Glu)
11g.103220710G>ACA246456DYNC2H1c.9034G>A (p.Val3012Ile)
c.2205+86291G>A (n.2205+86291G>A)
c.9013G>A (p.Val3005Ile)
c.8416G>A (p.Val2806Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.103220710G>CCA382262830DYNC2H1c.9034G>C (p.Val3012Leu)
c.2205+86291G>C (n.2205+86291G>C)
c.9013G>C (p.Val3005Leu)
c.8416G>C (p.Val2806Leu)
11g.103220710G=CA1996434118DYNC2H1c.9034G= (p.Val3012=)
c.2205+86291G= (n.2205+86291G=)
c.9013G= (p.Val3005=)
c.8416G= (p.Val2806=)
11g.103220710G>TCA382262829DYNC2H1c.9034G>T (p.Val3012Leu)
c.2205+86291G>T (n.2205+86291G>T)
c.9013G>T (p.Val3005Leu)
c.8416G>T (p.Val2806Leu)
11g.103220711T>ACA382262831DYNC2H1c.9035T>A (p.Val3012Glu)
c.2205+86292T>A (n.2205+86292T>A)
c.9014T>A (p.Val3005Glu)
c.8417T>A (p.Val2806Glu)
11g.103220711T>CCA382262832DYNC2H1c.9035T>C (p.Val3012Ala)
c.2205+86292T>C (n.2205+86292T>C)
c.9014T>C (p.Val3005Ala)
c.8417T>C (p.Val2806Ala)
11g.103220711T>GCA382262833DYNC2H1c.9035T>G (p.Val3012Gly)
c.2205+86292T>G (n.2205+86292T>G)
c.9014T>G (p.Val3005Gly)
c.8417T>G (p.Val2806Gly)
11g.103220713_103220716delCA2615748871DYNC2H1c.9037_9040del (p.Ile3013GlufsTer8)
c.2205+86294_2205+86297del (n.2205+86294_2205+86297del)
c.9016_9019del (p.Ile3006GlufsTer8)
c.8419_8422del (p.Ile2807GlufsTer8)
 gnomAD v4
11g.103220712A>CCA476622255DYNC2H1c.9036A>C (p.Val3012=)
c.2205+86293A>C (n.2205+86293A>C)
c.9015A>C (p.Val3005=)
c.8418A>C (p.Val2806=)
11g.103220712A>GCA476622258DYNC2H1c.9036A>G (p.Val3012=)
c.2205+86293A>G (n.2205+86293A>G)
c.9015A>G (p.Val3005=)
c.8418A>G (p.Val2806=)
11g.103220712A>TCA476622257DYNC2H1c.9036A>T (p.Val3012=)
c.2205+86293A>T (n.2205+86293A>T)
c.9015A>T (p.Val3005=)
c.8418A>T (p.Val2806=)
11g.103220713A=CA1996434119DYNC2H1c.9037A= (p.Ile3013=)
c.2205+86294A= (n.2205+86294A=)
c.9016A= (p.Ile3006=)
c.8419A= (p.Ile2807=)
11g.103220713A>CCA382262834DYNC2H1c.9037A>C (p.Ile3013Leu)
c.2205+86294A>C (n.2205+86294A>C)
c.9016A>C (p.Ile3006Leu)
c.8419A>C (p.Ile2807Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.103220713A>GCA382262835DYNC2H1c.9037A>G (p.Ile3013Val)
c.2205+86294A>G (n.2205+86294A>G)
c.9016A>G (p.Ile3006Val)
c.8419A>G (p.Ile2807Val)
11g.103220713A>TCA382262836DYNC2H1c.9037A>T (p.Ile3013Phe)
c.2205+86294A>T (n.2205+86294A>T)
c.9016A>T (p.Ile3006Phe)
c.8419A>T (p.Ile2807Phe)
11g.103220714T>ACA382262837DYNC2H1c.9038T>A (p.Ile3013Asn)
c.2205+86295T>A (n.2205+86295T>A)
c.9017T>A (p.Ile3006Asn)
c.8420T>A (p.Ile2807Asn)
11g.103220714T>CCA382262838DYNC2H1c.9038T>C (p.Ile3013Thr)
c.2205+86295T>C (n.2205+86295T>C)
c.9017T>C (p.Ile3006Thr)
c.8420T>C (p.Ile2807Thr)
11g.103220714T>GCA382262839DYNC2H1c.9038T>G (p.Ile3013Ser)
c.2205+86295T>G (n.2205+86295T>G)
c.9017T>G (p.Ile3006Ser)
c.8420T>G (p.Ile2807Ser)
11g.103220715T>ACA476622262DYNC2H1c.9039T>A (p.Ile3013=)
c.2205+86296T>A (n.2205+86296T>A)
c.9018T>A (p.Ile3006=)
c.8421T>A (p.Ile2807=)
11g.103220715T>CCA476622263DYNC2H1c.9039T>C (p.Ile3013=)
c.2205+86296T>C (n.2205+86296T>C)
c.9018T>C (p.Ile3006=)
c.8421T>C (p.Ile2807=)
11g.103220715T>GCA382262840DYNC2H1c.9039T>G (p.Ile3013Met)
c.2205+86296T>G (n.2205+86296T>G)
c.9018T>G (p.Ile3006Met)
c.8421T>G (p.Ile2807Met)
11g.103220715_103220717delinsTAGCA1996434120DYNC2H1c.9039_9041delinsTAG (p.Ile3013=)
c.2205+86296_2205+86298delinsTAG (n.2205+86296_2205+86298delinsTAG)
c.9018_9020delinsTAG (p.Ile3006=)
c.8421_8423delinsTAG (p.Ile2807=)
11g.103220716delCA2615748872DYNC2H1c.9040del (p.Arg3014GlufsTer8)
c.2205+86297del (n.2205+86297del)
c.9019del (p.Arg3007GlufsTer8)
c.8422del (p.Arg2808GlufsTer8)
 gnomAD v4
11g.103220716A>CCA476622266DYNC2H1c.9040A>C (p.Arg3014=)
c.2205+86297A>C (n.2205+86297A>C)
c.9019A>C (p.Arg3007=)
c.8422A>C (p.Arg2808=)
11g.103220716A>GCA382262841DYNC2H1c.9040A>G (p.Arg3014Gly)
c.2205+86297A>G (n.2205+86297A>G)
c.9019A>G (p.Arg3007Gly)
c.8422A>G (p.Arg2808Gly)
11g.103220716A>TCA382262842DYNC2H1c.9040A>T (p.Arg3014Ter)
c.2205+86297A>T (n.2205+86297A>T)
c.9019A>T (p.Arg3007Ter)
c.8422A>T (p.Arg2808Ter)
11g.103220719_103220720delCA670960771DYNC2H1c.9043_9044del (p.Asp3015TyrfsTer3)
c.2205+86300_2205+86301del (n.2205+86300_2205+86301del)
c.9022_9023del (p.Asp3008TyrfsTer3)
c.8425_8426del (p.Asp2809TyrfsTer3)
 dbSNP
11g.103220717G>ACA382262844DYNC2H1c.9041G>A (p.Arg3014Lys)
c.2205+86298G>A (n.2205+86298G>A)
c.9020G>A (p.Arg3007Lys)
c.8423G>A (p.Arg2808Lys)
11g.103220717G>CCA382262845DYNC2H1c.9041G>C (p.Arg3014Thr)
c.2205+86298G>C (n.2205+86298G>C)
c.9020G>C (p.Arg3007Thr)
c.8423G>C (p.Arg2808Thr)
11g.103220717G>TCA382262843DYNC2H1c.9041G>T (p.Arg3014Ile)
c.2205+86298G>T (n.2205+86298G>T)
c.9020G>T (p.Arg3007Ile)
c.8423G>T (p.Arg2808Ile)
 ClinVar
11g.103220718A=CA1996434121DYNC2H1c.9042A= (p.Arg3014=)
c.2205+86299A= (n.2205+86299A=)
c.9021A= (p.Arg3007=)
c.8424A= (p.Arg2808=)
11g.103220718A>CCA382262847DYNC2H1c.9042A>C (p.Arg3014Ser)
c.2205+86299A>C (n.2205+86299A>C)
c.9021A>C (p.Arg3007Ser)
c.8424A>C (p.Arg2808Ser)
11g.103220718A>GCA476622270DYNC2H1c.9042A>G (p.Arg3014=)
c.2205+86299A>G (n.2205+86299A>G)
c.9021A>G (p.Arg3007=)
c.8424A>G (p.Arg2808=)
 dbSNP
11g.103220718A>TCA382262846DYNC2H1c.9042A>T (p.Arg3014Ser)
c.2205+86299A>T (n.2205+86299A>T)
c.9021A>T (p.Arg3007Ser)
c.8424A>T (p.Arg2808Ser)
11g.103220719G>ACA382262850DYNC2H1c.9043G>A (p.Asp3015Asn)
c.2205+86300G>A (n.2205+86300G>A)
c.9022G>A (p.Asp3008Asn)
c.8425G>A (p.Asp2809Asn)
11g.103220719G>CCA382262848DYNC2H1c.9043G>C (p.Asp3015His)
c.2205+86300G>C (n.2205+86300G>C)
c.9022G>C (p.Asp3008His)
c.8425G>C (p.Asp2809His)
11g.103220719G>TCA382262849DYNC2H1c.9043G>T (p.Asp3015Tyr)
c.2205+86300G>T (n.2205+86300G>T)
c.9022G>T (p.Asp3008Tyr)
c.8425G>T (p.Asp2809Tyr)
 gnomAD v4
11g.103220720A=CA1996434122DYNC2H1c.9044A= (p.Asp3015=)
c.2205+86301A= (n.2205+86301A=)
c.9023A= (p.Asp3008=)
c.8426A= (p.Asp2809=)
11g.103220720A>CCA382262851DYNC2H1c.9044A>C (p.Asp3015Ala)
c.2205+86301A>C (n.2205+86301A>C)
c.9023A>C (p.Asp3008Ala)
c.8426A>C (p.Asp2809Ala)
11g.103220720A>GCA210499DYNC2H1c.9044A>G (p.Asp3015Gly)
c.2205+86301A>G (n.2205+86301A>G)
c.9023A>G (p.Asp3008Gly)
c.8426A>G (p.Asp2809Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.103220720A>TCA382262852DYNC2H1c.9044A>T (p.Asp3015Val)
c.2205+86301A>T (n.2205+86301A>T)
c.9023A>T (p.Asp3008Val)
c.8426A>T (p.Asp2809Val)
 gnomAD v4

Number of alleles fetched