Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.53645694G>ACA130771RPGRIP1Lc.2614C>T (p.Gln872Ter)
n.3038C>T
c.2626C>T (p.Gln876Ter)
c.859C>T (p.Gln287Ter)
n.2658C>T
n.2669C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645694G>CCA395914217RPGRIP1Lc.2614C>G (p.Gln872Glu)
n.3038C>G
c.2626C>G (p.Gln876Glu)
c.859C>G (p.Gln287Glu)
n.2658C>G
n.2669C>G
 gnomAD v4
16g.53645694G=CA2223253997RPGRIP1Lc.2614C= (p.Gln872=)
n.3038C=
c.2626C= (p.Gln876=)
c.859C= (p.Gln287=)
n.2658C=
n.2669C=
16g.53645694G>TCA395914218RPGRIP1Lc.2614C>A (p.Gln872Lys)
n.3038C>A
c.2626C>A (p.Gln876Lys)
c.859C>A (p.Gln287Lys)
n.2658C>A
n.2669C>A
16g.53645695G>ACA495784405RPGRIP1Lc.2613C>T (p.Thr871=)
n.3037C>T
c.2625C>T (p.Thr875=)
c.858C>T (p.Thr286=)
n.2657C>T
n.2668C>T
 dbSNP gnomAD v2 gnomAD v4
16g.53645695G>CCA495784406RPGRIP1Lc.2613C>G (p.Thr871=)
n.3037C>G
c.2625C>G (p.Thr875=)
c.858C>G (p.Thr286=)
n.2657C>G
n.2668C>G
 gnomAD v4
16g.53645695G=CA2223254004RPGRIP1Lc.2613C= (p.Thr871=)
n.3037C=
c.2625C= (p.Thr875=)
c.858C= (p.Thr286=)
n.2657C=
n.2668C=
16g.53645695G>TCA8057516RPGRIP1Lc.2613C>A (p.Thr871=)
n.3037C>A
c.2625C>A (p.Thr875=)
c.858C>A (p.Thr286=)
n.2657C>A
n.2668C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.53645696G>ACA395914219RPGRIP1Lc.2612C>T (p.Thr871Ile)
n.3036C>T
c.2624C>T (p.Thr875Ile)
c.857C>T (p.Thr286Ile)
n.2656C>T
n.2667C>T
16g.53645696G>CCA395914220RPGRIP1Lc.2612C>G (p.Thr871Ser)
n.3036C>G
c.2624C>G (p.Thr875Ser)
c.857C>G (p.Thr286Ser)
n.2656C>G
n.2667C>G
16g.53645696G>TCA395914221RPGRIP1Lc.2612C>A (p.Thr871Asn)
n.3036C>A
c.2624C>A (p.Thr875Asn)
c.857C>A (p.Thr286Asn)
n.2656C>A
n.2667C>A
16g.53645697T>ACA395914222RPGRIP1Lc.2611A>T (p.Thr871Ser)
n.3035A>T
c.2623A>T (p.Thr875Ser)
c.856A>T (p.Thr286Ser)
n.2655A>T
n.2666A>T
16g.53645697T>CCA395914223RPGRIP1Lc.2611A>G (p.Thr871Ala)
n.3035A>G
c.2623A>G (p.Thr875Ala)
c.856A>G (p.Thr286Ala)
n.2655A>G
n.2666A>G
16g.53645697T>GCA8057517RPGRIP1Lc.2611A>C (p.Thr871Pro)
n.3035A>C
c.2623A>C (p.Thr875Pro)
c.856A>C (p.Thr286Pro)
n.2655A>C
n.2666A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645697T=CA2223254009RPGRIP1Lc.2611A= (p.Thr871=)
n.3035A=
c.2623A= (p.Thr875=)
c.856A= (p.Thr286=)
n.2655A=
n.2666A=
16g.53645698A>CCA395914224RPGRIP1Lc.2610T>G (p.Asp870Glu)
n.3034T>G
c.2622T>G (p.Asp874Glu)
c.855T>G (p.Asp285Glu)
n.2654T>G
n.2665T>G
16g.53645698A>GCA495784409RPGRIP1Lc.2610T>C (p.Asp870=)
n.3034T>C
c.2622T>C (p.Asp874=)
c.855T>C (p.Asp285=)
n.2654T>C
n.2665T>C
 gnomAD v4
16g.53645698A>TCA395914225RPGRIP1Lc.2610T>A (p.Asp870Glu)
n.3034T>A
c.2622T>A (p.Asp874Glu)
c.855T>A (p.Asp285Glu)
n.2654T>A
n.2665T>A
16g.53645699T>ACA395914228RPGRIP1Lc.2609A>T (p.Asp870Val)
n.3033A>T
c.2621A>T (p.Asp874Val)
c.854A>T (p.Asp285Val)
n.2653A>T
n.2664A>T
16g.53645699T>CCA395914227RPGRIP1Lc.2609A>G (p.Asp870Gly)
n.3033A>G
c.2621A>G (p.Asp874Gly)
c.854A>G (p.Asp285Gly)
n.2653A>G
n.2664A>G
 ClinVar dbSNP
16g.53645699T>GCA395914226RPGRIP1Lc.2609A>C (p.Asp870Ala)
n.3033A>C
c.2621A>C (p.Asp874Ala)
c.854A>C (p.Asp285Ala)
n.2653A>C
n.2664A>C
16g.53645699T=CA2223254015RPGRIP1Lc.2609A= (p.Asp870=)
n.3033A=
c.2621A= (p.Asp874=)
c.854A= (p.Asp285=)
n.2653A=
n.2664A=
16g.53645700C>ACA395914230RPGRIP1Lc.2608G>T (p.Asp870Tyr)
n.3032G>T
c.2620G>T (p.Asp874Tyr)
c.853G>T (p.Asp285Tyr)
n.2652G>T
n.2663G>T
16g.53645700C>GCA395914229RPGRIP1Lc.2608G>C (p.Asp870His)
n.3032G>C
c.2620G>C (p.Asp874His)
c.853G>C (p.Asp285His)
n.2652G>C
n.2663G>C
16g.53645700C>TCA395914231RPGRIP1Lc.2608G>A (p.Asp870Asn)
n.3032G>A
c.2620G>A (p.Asp874Asn)
c.853G>A (p.Asp285Asn)
n.2652G>A
n.2663G>A
16g.53645701A>CCA395914232RPGRIP1Lc.2607T>G (p.Ser869Arg)
n.3031T>G
c.2619T>G (p.Ser873Arg)
c.852T>G (p.Ser284Arg)
n.2651T>G
n.2662T>G
16g.53645701A>GCA495784413RPGRIP1Lc.2607T>C (p.Ser869=)
n.3031T>C
c.2619T>C (p.Ser873=)
c.852T>C (p.Ser284=)
n.2651T>C
n.2662T>C
16g.53645701A>TCA395914233RPGRIP1Lc.2607T>A (p.Ser869Arg)
n.3031T>A
c.2619T>A (p.Ser873Arg)
c.852T>A (p.Ser284Arg)
n.2651T>A
n.2662T>A
16g.53645702C>ACA395914234RPGRIP1Lc.2606G>T (p.Ser869Ile)
n.3030G>T
c.2618G>T (p.Ser873Ile)
c.851G>T (p.Ser284Ile)
n.2650G>T
n.2661G>T
 COSMIC
16g.53645702C>GCA395914235RPGRIP1Lc.2606G>C (p.Ser869Thr)
n.3030G>C
c.2618G>C (p.Ser873Thr)
c.851G>C (p.Ser284Thr)
n.2650G>C
n.2661G>C
16g.53645702C>TCA395914236RPGRIP1Lc.2606G>A (p.Ser869Asn)
n.3030G>A
c.2618G>A (p.Ser873Asn)
c.851G>A (p.Ser284Asn)
n.2650G>A
n.2661G>A
 gnomAD v4
16g.53645703T>ACA395914237RPGRIP1Lc.2605A>T (p.Ser869Cys)
n.3029A>T
c.2617A>T (p.Ser873Cys)
c.850A>T (p.Ser284Cys)
n.2649A>T
n.2660A>T
16g.53645703T>CCA395914238RPGRIP1Lc.2605A>G (p.Ser869Gly)
n.3029A>G
c.2617A>G (p.Ser873Gly)
c.850A>G (p.Ser284Gly)
n.2649A>G
n.2660A>G
16g.53645703T>GCA395914239RPGRIP1Lc.2605A>C (p.Ser869Arg)
n.3029A>C
c.2617A>C (p.Ser873Arg)
c.850A>C (p.Ser284Arg)
n.2649A>C
n.2660A>C
16g.53645704A=CA2223254024RPGRIP1Lc.2604T= (p.Asp868=)
n.3028T=
c.2616T= (p.Asp872=)
c.849T= (p.Asp283=)
n.2648T=
n.2659T=
16g.53645704A>CCA395914240RPGRIP1Lc.2604T>G (p.Asp868Glu)
n.3028T>G
c.2616T>G (p.Asp872Glu)
c.849T>G (p.Asp283Glu)
n.2648T>G
n.2659T>G
16g.53645704A>GCA495784416RPGRIP1Lc.2604T>C (p.Asp868=)
n.3028T>C
c.2616T>C (p.Asp872=)
c.849T>C (p.Asp283=)
n.2648T>C
n.2659T>C
 ClinVar dbSNP gnomAD v4
16g.53645704A>TCA395914241RPGRIP1Lc.2604T>A (p.Asp868Glu)
n.3028T>A
c.2616T>A (p.Asp872Glu)
c.849T>A (p.Asp283Glu)
n.2648T>A
n.2659T>A
16g.53645708_53645710delCA2580613479RPGRIP1Lc.2602_2604del (p.Asp868del)
n.3026_3028del
c.2614_2616del (p.Asp872del)
c.847_849del (p.Asp283del)
n.2646_2648del
n.2657_2659del
 ClinVar dbSNP
16g.53645705T>ACA395914242RPGRIP1Lc.2603A>T (p.Asp868Val)
n.3027A>T
c.2615A>T (p.Asp872Val)
c.848A>T (p.Asp283Val)
n.2647A>T
n.2658A>T
16g.53645705T>CCA395914243RPGRIP1Lc.2603A>G (p.Asp868Gly)
n.3027A>G
c.2615A>G (p.Asp872Gly)
c.848A>G (p.Asp283Gly)
n.2647A>G
n.2658A>G
 ClinVar dbSNP gnomAD v4
16g.53645705T>GCA395914244RPGRIP1Lc.2603A>C (p.Asp868Ala)
n.3027A>C
c.2615A>C (p.Asp872Ala)
c.848A>C (p.Asp283Ala)
n.2647A>C
n.2658A>C
16g.53645705T=CA2223254031RPGRIP1Lc.2603A= (p.Asp868=)
n.3027A=
c.2615A= (p.Asp872=)
c.848A= (p.Asp283=)
n.2647A=
n.2658A=
16g.53645706C>ACA395914245RPGRIP1Lc.2602G>T (p.Asp868Tyr)
n.3026G>T
c.2614G>T (p.Asp872Tyr)
c.847G>T (p.Asp283Tyr)
n.2646G>T
n.2657G>T
16g.53645706C>GCA395914247RPGRIP1Lc.2602G>C (p.Asp868His)
n.3026G>C
c.2614G>C (p.Asp872His)
c.847G>C (p.Asp283His)
n.2646G>C
n.2657G>C
16g.53645706C>TCA395914246RPGRIP1Lc.2602G>A (p.Asp868Asn)
n.3026G>A
c.2614G>A (p.Asp872Asn)
c.847G>A (p.Asp283Asn)
n.2646G>A
n.2657G>A
16g.53645707A>CCA395914248RPGRIP1Lc.2601T>G (p.Asp867Glu)
n.3025T>G
c.2613T>G (p.Asp871Glu)
c.846T>G (p.Asp282Glu)
n.2645T>G
n.2656T>G
16g.53645707A>GCA495784421RPGRIP1Lc.2601T>C (p.Asp867=)
n.3025T>C
c.2613T>C (p.Asp871=)
c.846T>C (p.Asp282=)
n.2645T>C
n.2656T>C
 ClinVar
16g.53645707A>TCA395914249RPGRIP1Lc.2601T>A (p.Asp867Glu)
n.3025T>A
c.2613T>A (p.Asp871Glu)
c.846T>A (p.Asp282Glu)
n.2645T>A
n.2656T>A
16g.53645708T>ACA395914250RPGRIP1Lc.2600A>T (p.Asp867Val)
n.3024A>T
c.2612A>T (p.Asp871Val)
c.845A>T (p.Asp282Val)
n.2644A>T
n.2655A>T
16g.53645708T>CCA281339047RPGRIP1Lc.2600A>G (p.Asp867Gly)
n.3024A>G
c.2612A>G (p.Asp871Gly)
c.845A>G (p.Asp282Gly)
n.2644A>G
n.2655A>G
 dbSNP
16g.53645708T>GCA395914251RPGRIP1Lc.2600A>C (p.Asp867Ala)
n.3024A>C
c.2612A>C (p.Asp871Ala)
c.845A>C (p.Asp282Ala)
n.2644A>C
n.2655A>C
16g.53645708T=CA2223254033RPGRIP1Lc.2600A= (p.Asp867=)
n.3024A=
c.2612A= (p.Asp871=)
c.845A= (p.Asp282=)
n.2644A=
n.2655A=
16g.53645709C>ACA395914252RPGRIP1Lc.2599G>T (p.Asp867Tyr)
n.3023G>T
c.2611G>T (p.Asp871Tyr)
c.844G>T (p.Asp282Tyr)
n.2643G>T
n.2654G>T
16g.53645709C>GCA395914253RPGRIP1Lc.2599G>C (p.Asp867His)
n.3023G>C
c.2611G>C (p.Asp871His)
c.844G>C (p.Asp282His)
n.2643G>C
n.2654G>C
16g.53645709C>TCA395914254RPGRIP1Lc.2599G>A (p.Asp867Asn)
n.3023G>A
c.2611G>A (p.Asp871Asn)
c.844G>A (p.Asp282Asn)
n.2643G>A
n.2654G>A
16g.53645710A>CCA395914255RPGRIP1Lc.2598T>G (p.Phe866Leu)
n.3022T>G
c.2610T>G (p.Phe870Leu)
c.843T>G (p.Phe281Leu)
n.2642T>G
n.2653T>G
16g.53645710A>GCA495784423RPGRIP1Lc.2598T>C (p.Phe866=)
n.3022T>C
c.2610T>C (p.Phe870=)
c.843T>C (p.Phe281=)
n.2642T>C
n.2653T>C
16g.53645710A>TCA395914256RPGRIP1Lc.2598T>A (p.Phe866Leu)
n.3022T>A
c.2610T>A (p.Phe870Leu)
c.843T>A (p.Phe281Leu)
n.2642T>A
n.2653T>A
16g.53645711A>CCA395914258RPGRIP1Lc.2597T>G (p.Phe866Cys)
n.3021T>G
c.2609T>G (p.Phe870Cys)
c.842T>G (p.Phe281Cys)
n.2641T>G
n.2652T>G
16g.53645711A>GCA395914259RPGRIP1Lc.2597T>C (p.Phe866Ser)
n.3021T>C
c.2609T>C (p.Phe870Ser)
c.842T>C (p.Phe281Ser)
n.2641T>C
n.2652T>C
 COSMIC
16g.53645711A>TCA395914257RPGRIP1Lc.2597T>A (p.Phe866Tyr)
n.3021T>A
c.2609T>A (p.Phe870Tyr)
c.842T>A (p.Phe281Tyr)
n.2641T>A
n.2652T>A
16g.53645712A>CCA395914260RPGRIP1Lc.2596T>G (p.Phe866Val)
n.3020T>G
c.2608T>G (p.Phe870Val)
c.841T>G (p.Phe281Val)
n.2640T>G
n.2651T>G
16g.53645712A>GCA395914261RPGRIP1Lc.2596T>C (p.Phe866Leu)
n.3020T>C
c.2608T>C (p.Phe870Leu)
c.841T>C (p.Phe281Leu)
n.2640T>C
n.2651T>C
16g.53645712A>TCA395914262RPGRIP1Lc.2596T>A (p.Phe866Ile)
n.3020T>A
c.2608T>A (p.Phe870Ile)
c.841T>A (p.Phe281Ile)
n.2640T>A
n.2651T>A
 gnomAD v4
16g.53645713A=CA2223254035RPGRIP1Lc.2595T= (p.Val865=)
n.3019T=
c.2607T= (p.Val869=)
c.840T= (p.Val280=)
n.2639T=
n.2650T=
16g.53645713A>CCA8057518RPGRIP1Lc.2595T>G (p.Val865=)
n.3019T>G
c.2607T>G (p.Val869=)
c.840T>G (p.Val280=)
n.2639T>G
n.2650T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645713A>GCA495784428RPGRIP1Lc.2595T>C (p.Val865=)
n.3019T>C
c.2607T>C (p.Val869=)
c.840T>C (p.Val280=)
n.2639T>C
n.2650T>C
16g.53645713A>TCA495784429RPGRIP1Lc.2595T>A (p.Val865=)
n.3019T>A
c.2607T>A (p.Val869=)
c.840T>A (p.Val280=)
n.2639T>A
n.2650T>A
16g.53645714A=CA2223254041RPGRIP1Lc.2594T= (p.Val865=)
n.3018T=
c.2606T= (p.Val869=)
c.839T= (p.Val280=)
n.2638T=
n.2649T=
16g.53645714A>CCA395914263RPGRIP1Lc.2594T>G (p.Val865Gly)
n.3018T>G
c.2606T>G (p.Val869Gly)
c.839T>G (p.Val280Gly)
n.2638T>G
n.2649T>G
 dbSNP gnomAD v3 gnomAD v4
16g.53645714A>GCA395914264RPGRIP1Lc.2594T>C (p.Val865Ala)
n.3018T>C
c.2606T>C (p.Val869Ala)
c.839T>C (p.Val280Ala)
n.2638T>C
n.2649T>C
16g.53645714A>TCA395914265RPGRIP1Lc.2594T>A (p.Val865Asp)
n.3018T>A
c.2606T>A (p.Val869Asp)
c.839T>A (p.Val280Asp)
n.2638T>A
n.2649T>A
16g.53645715C>ACA395914266RPGRIP1Lc.2593G>T (p.Val865Phe)
n.3017G>T
c.2605G>T (p.Val869Phe)
c.838G>T (p.Val280Phe)
n.2637G>T
n.2648G>T
16g.53645715C>GCA395914267RPGRIP1Lc.2593G>C (p.Val865Leu)
n.3017G>C
c.2605G>C (p.Val869Leu)
c.838G>C (p.Val280Leu)
n.2637G>C
n.2648G>C
16g.53645715C>TCA395914268RPGRIP1Lc.2593G>A (p.Val865Ile)
n.3017G>A
c.2605G>A (p.Val869Ile)
c.838G>A (p.Val280Ile)
n.2637G>A
n.2648G>A
16g.53645715_53645717delinsCATCA2223254045RPGRIP1Lc.2591_2593delinsATG (p.Tyr864=)
n.3015_3017delinsATG
c.2603_2605delinsATG (p.Tyr868=)
c.836_838delinsATG (p.Tyr279=)
n.2635_2637delinsATG
n.2646_2648delinsATG
16g.53645716A=CA2223254048RPGRIP1Lc.2592T= (p.Tyr864=)
n.3016T=
c.2604T= (p.Tyr868=)
c.837T= (p.Tyr279=)
n.2636T=
n.2647T=
16g.53645716A>CCA395914269RPGRIP1Lc.2592T>G (p.Tyr864Ter)
n.3016T>G
c.2604T>G (p.Tyr868Ter)
c.837T>G (p.Tyr279Ter)
n.2636T>G
n.2647T>G
16g.53645716A>GCA495784431RPGRIP1Lc.2592T>C (p.Tyr864=)
n.3016T>C
c.2604T>C (p.Tyr868=)
c.837T>C (p.Tyr279=)
n.2636T>C
n.2647T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.53645716A>TCA395914270RPGRIP1Lc.2592T>A (p.Tyr864Ter)
n.3016T>A
c.2604T>A (p.Tyr868Ter)
c.837T>A (p.Tyr279Ter)
n.2636T>A
n.2647T>A
16g.53645717_53645718delCA8057519RPGRIP1Lc.2591_2592del (p.Tyr864CysfsTer3)
n.3015_3016del
c.2603_2604del (p.Tyr868CysfsTer3)
c.836_837del (p.Tyr279CysfsTer3)
n.2635_2636del
n.2646_2647del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.53645717T>ACA395914272RPGRIP1Lc.2591A>T (p.Tyr864Phe)
n.3015A>T
c.2603A>T (p.Tyr868Phe)
c.836A>T (p.Tyr279Phe)
n.2635A>T
n.2646A>T
 gnomAD v4
16g.53645717T>CCA8057520RPGRIP1Lc.2591A>G (p.Tyr864Cys)
n.3015A>G
c.2603A>G (p.Tyr868Cys)
c.836A>G (p.Tyr279Cys)
n.2635A>G
n.2646A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645717T>GCA395914271RPGRIP1Lc.2591A>C (p.Tyr864Ser)
n.3015A>C
c.2603A>C (p.Tyr868Ser)
c.836A>C (p.Tyr279Ser)
n.2635A>C
n.2646A>C
16g.53645717T=CA2223254053RPGRIP1Lc.2591A= (p.Tyr864=)
n.3015A=
c.2603A= (p.Tyr868=)
c.836A= (p.Tyr279=)
n.2635A=
n.2646A=
16g.53645718A=CA2223254054RPGRIP1Lc.2590T= (p.Tyr864=)
n.3014T=
c.2602T= (p.Tyr868=)
c.835T= (p.Tyr279=)
n.2634T=
n.2645T=
16g.53645718A>CCA395914273RPGRIP1Lc.2590T>G (p.Tyr864Asp)
n.3014T>G
c.2602T>G (p.Tyr868Asp)
c.835T>G (p.Tyr279Asp)
n.2634T>G
n.2645T>G
16g.53645718A>GCA395914274RPGRIP1Lc.2590T>C (p.Tyr864His)
n.3014T>C
c.2602T>C (p.Tyr868His)
c.835T>C (p.Tyr279His)
n.2634T>C
n.2645T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.53645718A>TCA395914275RPGRIP1Lc.2590T>A (p.Tyr864Asn)
n.3014T>A
c.2602T>A (p.Tyr868Asn)
c.835T>A (p.Tyr279Asn)
n.2634T>A
n.2645T>A
16g.53645719A>CCA395914276RPGRIP1Lc.2589T>G (p.Phe863Leu)
n.3013T>G
c.2601T>G (p.Phe867Leu)
c.834T>G (p.Phe278Leu)
n.2633T>G
n.2644T>G
16g.53645719A>GCA495784438RPGRIP1Lc.2589T>C (p.Phe863=)
n.3013T>C
c.2601T>C (p.Phe867=)
c.834T>C (p.Phe278=)
n.2633T>C
n.2644T>C
16g.53645719A>TCA395914277RPGRIP1Lc.2589T>A (p.Phe863Leu)
n.3013T>A
c.2601T>A (p.Phe867Leu)
c.834T>A (p.Phe278Leu)
n.2633T>A
n.2644T>A
16g.53645720A>CCA395914278RPGRIP1Lc.2588T>G (p.Phe863Cys)
n.3012T>G
c.2600T>G (p.Phe867Cys)
c.833T>G (p.Phe278Cys)
n.2632T>G
n.2643T>G
16g.53645720A>GCA395914279RPGRIP1Lc.2588T>C (p.Phe863Ser)
n.3012T>C
c.2600T>C (p.Phe867Ser)
c.833T>C (p.Phe278Ser)
n.2632T>C
n.2643T>C
16g.53645720A>TCA395914280RPGRIP1Lc.2588T>A (p.Phe863Tyr)
n.3012T>A
c.2600T>A (p.Phe867Tyr)
c.833T>A (p.Phe278Tyr)
n.2632T>A
n.2643T>A
16g.53645721A>CCA395914281RPGRIP1Lc.2587T>G (p.Phe863Val)
n.3011T>G
c.2599T>G (p.Phe867Val)
c.832T>G (p.Phe278Val)
n.2631T>G
n.2642T>G
16g.53645721A>GCA395914282RPGRIP1Lc.2587T>C (p.Phe863Leu)
n.3011T>C
c.2599T>C (p.Phe867Leu)
c.832T>C (p.Phe278Leu)
n.2631T>C
n.2642T>C
16g.53645721A>TCA395914283RPGRIP1Lc.2587T>A (p.Phe863Ile)
n.3011T>A
c.2599T>A (p.Phe867Ile)
c.832T>A (p.Phe278Ile)
n.2631T>A
n.2642T>A
16g.53645722A=CA2223254062RPGRIP1Lc.2586T= (p.Ser862=)
n.3010T=
c.2598T= (p.Ser866=)
c.831T= (p.Ser277=)
n.2630T=
n.2641T=
16g.53645722A>CCA395914284RPGRIP1Lc.2586T>G (p.Ser862Arg)
n.3010T>G
c.2598T>G (p.Ser866Arg)
c.831T>G (p.Ser277Arg)
n.2630T>G
n.2641T>G
16g.53645722A>GCA8057521RPGRIP1Lc.2586T>C (p.Ser862=)
n.3010T>C
c.2598T>C (p.Ser866=)
c.831T>C (p.Ser277=)
n.2630T>C
n.2641T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645722A>TCA395914285RPGRIP1Lc.2586T>A (p.Ser862Arg)
n.3010T>A
c.2598T>A (p.Ser866Arg)
c.831T>A (p.Ser277Arg)
n.2630T>A
n.2641T>A
16g.53645723C>ACA395914287RPGRIP1Lc.2585G>T (p.Ser862Ile)
n.3009G>T
c.2597G>T (p.Ser866Ile)
c.830G>T (p.Ser277Ile)
n.2629G>T
n.2640G>T
16g.53645723C>GCA395914288RPGRIP1Lc.2585G>C (p.Ser862Thr)
n.3009G>C
c.2597G>C (p.Ser866Thr)
c.830G>C (p.Ser277Thr)
n.2629G>C
n.2640G>C
16g.53645723C>TCA395914286RPGRIP1Lc.2585G>A (p.Ser862Asn)
n.3009G>A
c.2597G>A (p.Ser866Asn)
c.830G>A (p.Ser277Asn)
n.2629G>A
n.2640G>A
16g.53645724T>ACA395914289RPGRIP1Lc.2584A>T (p.Ser862Cys)
n.3008A>T
c.2596A>T (p.Ser866Cys)
c.829A>T (p.Ser277Cys)
n.2628A>T
n.2639A>T
16g.53645724T>CCA395914291RPGRIP1Lc.2584A>G (p.Ser862Gly)
n.3008A>G
c.2596A>G (p.Ser866Gly)
c.829A>G (p.Ser277Gly)
n.2628A>G
n.2639A>G
16g.53645724T>GCA395914290RPGRIP1Lc.2584A>C (p.Ser862Arg)
n.3008A>C
c.2596A>C (p.Ser866Arg)
c.829A>C (p.Ser277Arg)
n.2628A>C
n.2639A>C
16g.53645725C>ACA8057524RPGRIP1Lc.2583G>T (p.Leu861=)
n.3007G>T
c.2595G>T (p.Leu865=)
c.828G>T (p.Leu276=)
n.2627G>T
n.2638G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645725C=CA2223254067RPGRIP1Lc.2583G= (p.Leu861=)
n.3007G=
c.2595G= (p.Leu865=)
c.828G= (p.Leu276=)
n.2627G=
n.2638G=
16g.53645725C>GCA8057523RPGRIP1Lc.2583G>C (p.Leu861=)
n.3007G>C
c.2595G>C (p.Leu865=)
c.828G>C (p.Leu276=)
n.2627G>C
n.2638G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645725C>TCA495784446RPGRIP1Lc.2583G>A (p.Leu861=)
n.3007G>A
c.2595G>A (p.Leu865=)
c.828G>A (p.Leu276=)
n.2627G>A
n.2638G>A
16g.53645726A=CA2223254074RPGRIP1Lc.2582T= (p.Leu861=)
n.3006T=
c.2594T= (p.Leu865=)
c.827T= (p.Leu276=)
n.2626T=
n.2637T=
16g.53645726A>CCA395914292RPGRIP1Lc.2582T>G (p.Leu861Arg)
n.3006T>G
c.2594T>G (p.Leu865Arg)
c.827T>G (p.Leu276Arg)
n.2626T>G
n.2637T>G
16g.53645726A>GCA395914293RPGRIP1Lc.2582T>C (p.Leu861Pro)
n.3006T>C
c.2594T>C (p.Leu865Pro)
c.827T>C (p.Leu276Pro)
n.2626T>C
n.2637T>C
16g.53645726A>TCA395914294RPGRIP1Lc.2582T>A (p.Leu861Gln)
n.3006T>A
c.2594T>A (p.Leu865Gln)
c.827T>A (p.Leu276Gln)
n.2626T>A
n.2637T>A
 gnomAD v4
16g.53645726dupCA8057522RPGRIP1Lc.2582dup (p.Ser862GlufsTer6)
n.3006dup
c.2594dup (p.Ser866GlufsTer6)
c.827dup (p.Ser277GlufsTer6)
n.2626dup
n.2637dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.53645726_53645727insCCA2223254079RPGRIP1Lc.2581_2582insG (p.Leu861ArgfsTer7)
n.3005_3006insG
c.2593_2594insG (p.Leu865ArgfsTer7)
c.826_827insG (p.Leu276ArgfsTer7)
n.2625_2626insG
n.2636_2637insG
 ClinVar dbSNP
16g.53645727G>ACA495784449RPGRIP1Lc.2581C>T (p.Leu861=)
n.3005C>T
c.2593C>T (p.Leu865=)
c.826C>T (p.Leu276=)
n.2625C>T
n.2636C>T
 COSMIC
16g.53645727G>CCA395914295RPGRIP1Lc.2581C>G (p.Leu861Val)
n.3005C>G
c.2593C>G (p.Leu865Val)
c.826C>G (p.Leu276Val)
n.2625C>G
n.2636C>G
16g.53645727G>TCA395914296RPGRIP1Lc.2581C>A (p.Leu861Met)
n.3005C>A
c.2593C>A (p.Leu865Met)
c.826C>A (p.Leu276Met)
n.2625C>A
n.2636C>A
16g.53645728A>CCA495784450RPGRIP1Lc.2580T>G (p.Ser860=)
n.3004T>G
c.2592T>G (p.Ser864=)
c.825T>G (p.Ser275=)
n.2624T>G
n.2635T>G
16g.53645728A>GCA495784451RPGRIP1Lc.2580T>C (p.Ser860=)
n.3004T>C
c.2592T>C (p.Ser864=)
c.825T>C (p.Ser275=)
n.2624T>C
n.2635T>C
16g.53645728A>TCA495784453RPGRIP1Lc.2580T>A (p.Ser860=)
n.3004T>A
c.2592T>A (p.Ser864=)
c.825T>A (p.Ser275=)
n.2624T>A
n.2635T>A
16g.53645729G>ACA395914297RPGRIP1Lc.2579C>T (p.Ser860Phe)
n.3003C>T
c.2591C>T (p.Ser864Phe)
c.824C>T (p.Ser275Phe)
n.2623C>T
n.2634C>T
16g.53645729G>CCA8057525RPGRIP1Lc.2579C>G (p.Ser860Cys)
n.3003C>G
c.2591C>G (p.Ser864Cys)
c.824C>G (p.Ser275Cys)
n.2623C>G
n.2634C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.53645729G=CA2223254084RPGRIP1Lc.2579C= (p.Ser860=)
n.3003C=
c.2591C= (p.Ser864=)
c.824C= (p.Ser275=)
n.2623C=
n.2634C=
16g.53645729G>TCA395914298RPGRIP1Lc.2579C>A (p.Ser860Tyr)
n.3003C>A
c.2591C>A (p.Ser864Tyr)
c.824C>A (p.Ser275Tyr)
n.2623C>A
n.2634C>A
16g.53645730A>CCA395914299RPGRIP1Lc.2578T>G (p.Ser860Ala)
n.3002T>G
c.2590T>G (p.Ser864Ala)
c.823T>G (p.Ser275Ala)
n.2622T>G
n.2633T>G
 gnomAD v4
16g.53645730A>GCA395914300RPGRIP1Lc.2578T>C (p.Ser860Pro)
n.3002T>C
c.2590T>C (p.Ser864Pro)
c.823T>C (p.Ser275Pro)
n.2622T>C
n.2633T>C
 gnomAD v4
16g.53645730A>TCA395914301RPGRIP1Lc.2578T>A (p.Ser860Thr)
n.3002T>A
c.2590T>A (p.Ser864Thr)
c.823T>A (p.Ser275Thr)
n.2622T>A
n.2633T>A
16g.53645731C>ACA395914303RPGRIP1Lc.2577G>T (p.Glu859Asp)
n.3001G>T
c.2589G>T (p.Glu863Asp)
c.822G>T (p.Glu274Asp)
n.2621G>T
n.2632G>T
16g.53645731C>GCA395914302RPGRIP1Lc.2577G>C (p.Glu859Asp)
n.3001G>C
c.2589G>C (p.Glu863Asp)
c.822G>C (p.Glu274Asp)
n.2621G>C
n.2632G>C
16g.53645731C>TCA495784454RPGRIP1Lc.2577G>A (p.Glu859=)
n.3001G>A
c.2589G>A (p.Glu863=)
c.822G>A (p.Glu274=)
n.2621G>A
n.2632G>A
 ClinVar dbSNP
16g.53645733_53645734delCA2580613480RPGRIP1Lc.2576_2577del (p.Glu859ValfsTer8)
n.3000_3001del
c.2588_2589del (p.Glu863ValfsTer8)
c.821_822del (p.Glu274ValfsTer8)
n.2620_2621del
n.2631_2632del
 ClinVar
16g.53645732T>ACA395914304RPGRIP1Lc.2576A>T (p.Glu859Val)
n.3000A>T
c.2588A>T (p.Glu863Val)
c.821A>T (p.Glu274Val)
n.2620A>T
n.2631A>T
16g.53645732T>CCA395914305RPGRIP1Lc.2576A>G (p.Glu859Gly)
n.3000A>G
c.2588A>G (p.Glu863Gly)
c.821A>G (p.Glu274Gly)
n.2620A>G
n.2631A>G
16g.53645732T>GCA395914306RPGRIP1Lc.2576A>C (p.Glu859Ala)
n.3000A>C
c.2588A>C (p.Glu863Ala)
c.821A>C (p.Glu274Ala)
n.2620A>C
n.2631A>C
16g.53645733C>ACA395914307RPGRIP1Lc.2575G>T (p.Glu859Ter)
n.2999G>T
c.2587G>T (p.Glu863Ter)
c.820G>T (p.Glu274Ter)
n.2619G>T
n.2630G>T
16g.53645733C>GCA395914308RPGRIP1Lc.2575G>C (p.Glu859Gln)
n.2999G>C
c.2587G>C (p.Glu863Gln)
c.820G>C (p.Glu274Gln)
n.2619G>C
n.2630G>C
16g.53645733C>TCA395914309RPGRIP1Lc.2575G>A (p.Glu859Lys)
n.2999G>A
c.2587G>A (p.Glu863Lys)
c.820G>A (p.Glu274Lys)
n.2619G>A
n.2630G>A
16g.53645734T>ACA495784456RPGRIP1Lc.2574A>T (p.Ser858=)
n.2998A>T
c.2586A>T (p.Ser862=)
c.819A>T (p.Ser273=)
n.2618A>T
n.2629A>T
16g.53645734T>CCA495784457RPGRIP1Lc.2574A>G (p.Ser858=)
n.2998A>G
c.2586A>G (p.Ser862=)
c.819A>G (p.Ser273=)
n.2618A>G
n.2629A>G
 ClinVar dbSNP gnomAD v4
16g.53645734T>GCA495784458RPGRIP1Lc.2574A>C (p.Ser858=)
n.2998A>C
c.2586A>C (p.Ser862=)
c.819A>C (p.Ser273=)
n.2618A>C
n.2629A>C
16g.53645734T=CA2223254091RPGRIP1Lc.2574A= (p.Ser858=)
n.2998A=
c.2586A= (p.Ser862=)
c.819A= (p.Ser273=)
n.2618A=
n.2629A=
16g.53645735G>ACA395914310RPGRIP1Lc.2573C>T (p.Ser858Leu)
n.2997C>T
c.2585C>T (p.Ser862Leu)
c.818C>T (p.Ser273Leu)
n.2617C>T
n.2628C>T
16g.53645735G>CCA395914311RPGRIP1Lc.2573C>G (p.Ser858Ter)
n.2997C>G
c.2585C>G (p.Ser862Ter)
c.818C>G (p.Ser273Ter)
n.2617C>G
n.2628C>G
16g.53645735G>TCA395914312RPGRIP1Lc.2573C>A (p.Ser858Ter)
n.2997C>A
c.2585C>A (p.Ser862Ter)
c.818C>A (p.Ser273Ter)
n.2617C>A
n.2628C>A
 ClinVar gnomAD v4
16g.53645736A>CCA395914313RPGRIP1Lc.2572T>G (p.Ser858Ala)
n.2996T>G
c.2584T>G (p.Ser862Ala)
c.817T>G (p.Ser273Ala)
n.2616T>G
n.2627T>G
16g.53645736A>GCA395914314RPGRIP1Lc.2572T>C (p.Ser858Pro)
n.2996T>C
c.2584T>C (p.Ser862Pro)
c.817T>C (p.Ser273Pro)
n.2616T>C
n.2627T>C
16g.53645736A>TCA395914315RPGRIP1Lc.2572T>A (p.Ser858Thr)
n.2996T>A
c.2584T>A (p.Ser862Thr)
c.817T>A (p.Ser273Thr)
n.2616T>A
n.2627T>A
16g.53645737C>ACA395914316RPGRIP1Lc.2571G>T (p.Lys857Asn)
n.2995G>T
c.2583G>T (p.Lys861Asn)
c.816G>T (p.Lys272Asn)
n.2615G>T
n.2626G>T
16g.53645737C=CA2223254099RPGRIP1Lc.2571G= (p.Lys857=)
n.2995G=
c.2583G= (p.Lys861=)
c.816G= (p.Lys272=)
n.2615G=
n.2626G=
16g.53645737C>GCA281339101RPGRIP1Lc.2571G>C (p.Lys857Asn)
n.2995G>C
c.2583G>C (p.Lys861Asn)
c.816G>C (p.Lys272Asn)
n.2615G>C
n.2626G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.53645737C>TCA495784462RPGRIP1Lc.2571G>A (p.Lys857=)
n.2995G>A
c.2583G>A (p.Lys861=)
c.816G>A (p.Lys272=)
n.2615G>A
n.2626G>A
 ClinVar
16g.53645738T>ACA395914317RPGRIP1Lc.2570A>T (p.Lys857Met)
n.2994A>T
c.2582A>T (p.Lys861Met)
c.815A>T (p.Lys272Met)
n.2614A>T
n.2625A>T
16g.53645738T>CCA395914318RPGRIP1Lc.2570A>G (p.Lys857Arg)
n.2994A>G
c.2582A>G (p.Lys861Arg)
c.815A>G (p.Lys272Arg)
n.2614A>G
n.2625A>G
16g.53645738T>GCA395914319RPGRIP1Lc.2570A>C (p.Lys857Thr)
n.2994A>C
c.2582A>C (p.Lys861Thr)
c.815A>C (p.Lys272Thr)
n.2614A>C
n.2625A>C
16g.53645739T>ACA395914320RPGRIP1Lc.2569A>T (p.Lys857Ter)
n.2993A>T
c.2581A>T (p.Lys861Ter)
c.814A>T (p.Lys272Ter)
n.2613A>T
n.2624A>T
16g.53645739T>CCA395914321RPGRIP1Lc.2569A>G (p.Lys857Glu)
n.2993A>G
c.2581A>G (p.Lys861Glu)
c.814A>G (p.Lys272Glu)
n.2613A>G
n.2624A>G
16g.53645739T>GCA395914322RPGRIP1Lc.2569A>C (p.Lys857Gln)
n.2993A>C
c.2581A>C (p.Lys861Gln)
c.814A>C (p.Lys272Gln)
n.2613A>C
n.2624A>C
16g.53645740A>CCA495784468RPGRIP1Lc.2568T>G (p.Leu856=)
n.2992T>G
c.2580T>G (p.Leu860=)
c.813T>G (p.Leu271=)
n.2612T>G
n.2623T>G
 gnomAD v4
16g.53645740A>GCA495784466RPGRIP1Lc.2568T>C (p.Leu856=)
n.2992T>C
c.2580T>C (p.Leu860=)
c.813T>C (p.Leu271=)
n.2612T>C
n.2623T>C
16g.53645740A>TCA495784467RPGRIP1Lc.2568T>A (p.Leu856=)
n.2992T>A
c.2580T>A (p.Leu860=)
c.813T>A (p.Leu271=)
n.2612T>A
n.2623T>A
16g.53645741A>CCA395914323RPGRIP1Lc.2567T>G (p.Leu856Arg)
n.2991T>G
c.2579T>G (p.Leu860Arg)
c.812T>G (p.Leu271Arg)
n.2611T>G
n.2622T>G
16g.53645741A>GCA395914324RPGRIP1Lc.2567T>C (p.Leu856Pro)
n.2991T>C
c.2579T>C (p.Leu860Pro)
c.812T>C (p.Leu271Pro)
n.2611T>C
n.2622T>C
16g.53645741A>TCA395914325RPGRIP1Lc.2567T>A (p.Leu856His)
n.2991T>A
c.2579T>A (p.Leu860His)
c.812T>A (p.Leu271His)
n.2611T>A
n.2622T>A
16g.53645742G>ACA8057526RPGRIP1Lc.2566C>T (p.Leu856Phe)
n.2990C>T
c.2578C>T (p.Leu860Phe)
c.811C>T (p.Leu271Phe)
n.2610C>T
n.2621C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.53645742G>CCA395914326RPGRIP1Lc.2566C>G (p.Leu856Val)
n.2990C>G
c.2578C>G (p.Leu860Val)
c.811C>G (p.Leu271Val)
n.2610C>G
n.2621C>G
16g.53645742G=CA2223254101RPGRIP1Lc.2566C= (p.Leu856=)
n.2990C=
c.2578C= (p.Leu860=)
c.811C= (p.Leu271=)
n.2610C=
n.2621C=
16g.53645742G>TCA395914327RPGRIP1Lc.2566C>A (p.Leu856Ile)
n.2990C>A
c.2578C>A (p.Leu860Ile)
c.811C>A (p.Leu271Ile)
n.2610C>A
n.2621C>A
 gnomAD v4
16g.53645743delCA2740093351RPGRIP1Lc.2566del (p.Lys857SerfsTer5)
n.2990del
c.2578del (p.Lys861SerfsTer5)
c.811del (p.Lys272SerfsTer5)
n.2610del
n.2621del
 ClinVar
16g.53645743G>ACA10637956RPGRIP1Lc.2565C>T (p.Tyr855=)
n.2989C>T
c.2577C>T (p.Tyr859=)
c.810C>T (p.Tyr270=)
n.2609C>T
n.2620C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.53645743G>CCA395914328RPGRIP1Lc.2565C>G (p.Tyr855Ter)
n.2989C>G
c.2577C>G (p.Tyr859Ter)
c.810C>G (p.Tyr270Ter)
n.2609C>G
n.2620C>G
16g.53645743G=CA2223254109RPGRIP1Lc.2565C= (p.Tyr855=)
n.2989C=
c.2577C= (p.Tyr859=)
c.810C= (p.Tyr270=)
n.2609C=
n.2620C=
16g.53645743G>TCA281339125RPGRIP1Lc.2565C>A (p.Tyr855Ter)
n.2989C>A
c.2577C>A (p.Tyr859Ter)
c.810C>A (p.Tyr270Ter)
n.2609C>A
n.2620C>A
 ClinVar dbSNP
16g.53645744T>ACA395914329RPGRIP1Lc.2564A>T (p.Tyr855Phe)
n.2988A>T
c.2576A>T (p.Tyr859Phe)
c.809A>T (p.Tyr270Phe)
n.2608A>T
n.2619A>T
16g.53645744T>CCA395914330RPGRIP1Lc.2564A>G (p.Tyr855Cys)
n.2988A>G
c.2576A>G (p.Tyr859Cys)
c.809A>G (p.Tyr270Cys)
n.2608A>G
n.2619A>G
16g.53645744T>GCA395914331RPGRIP1Lc.2564A>C (p.Tyr855Ser)
n.2988A>C
c.2576A>C (p.Tyr859Ser)
c.809A>C (p.Tyr270Ser)
n.2608A>C
n.2619A>C
16g.53645745A=CA2223254119RPGRIP1Lc.2563T= (p.Tyr855=)
n.2987T=
c.2575T= (p.Tyr859=)
c.808T= (p.Tyr270=)
n.2607T=
n.2618T=
16g.53645745A>CCA395914332RPGRIP1Lc.2563T>G (p.Tyr855Asp)
n.2987T>G
c.2575T>G (p.Tyr859Asp)
c.808T>G (p.Tyr270Asp)
n.2607T>G
n.2618T>G
16g.53645745A>GCA395914333RPGRIP1Lc.2563T>C (p.Tyr855His)
n.2987T>C
c.2575T>C (p.Tyr859His)
c.808T>C (p.Tyr270His)
n.2607T>C
n.2618T>C
 ClinVar dbSNP gnomAD v4
16g.53645745A>TCA395914334RPGRIP1Lc.2563T>A (p.Tyr855Asn)
n.2987T>A
c.2575T>A (p.Tyr859Asn)
c.808T>A (p.Tyr270Asn)
n.2607T>A
n.2618T>A
16g.53645746T>ACA495784475RPGRIP1Lc.2562A>T (p.Arg854=)
n.2986A>T
c.2574A>T (p.Arg858=)
c.807A>T (p.Arg269=)
n.2606A>T
n.2617A>T
16g.53645746T>CCA495784477RPGRIP1Lc.2562A>G (p.Arg854=)
n.2986A>G
c.2574A>G (p.Arg858=)
c.807A>G (p.Arg269=)
n.2606A>G
n.2617A>G
16g.53645746T>GCA495784476RPGRIP1Lc.2562A>C (p.Arg854=)
n.2986A>C
c.2574A>C (p.Arg858=)
c.807A>C (p.Arg269=)
n.2606A>C
n.2617A>C
 gnomAD v4
16g.53645747C>ACA281339132RPGRIP1Lc.2561G>T (p.Arg854Leu)
n.2985G>T
c.2573G>T (p.Arg858Leu)
c.806G>T (p.Arg269Leu)
n.2605G>T
n.2616G>T
 dbSNP
16g.53645747C=CA2223254125RPGRIP1Lc.2561G= (p.Arg854=)
n.2985G=
c.2573G= (p.Arg858=)
c.806G= (p.Arg269=)
n.2605G=
n.2616G=
16g.53645747C>GCA395914335RPGRIP1Lc.2561G>C (p.Arg854Pro)
n.2985G>C
c.2573G>C (p.Arg858Pro)
c.806G>C (p.Arg269Pro)
n.2605G>C
n.2616G>C
16g.53645747C>TCA281339133RPGRIP1Lc.2561G>A (p.Arg854Gln)
n.2985G>A
c.2573G>A (p.Arg858Gln)
c.806G>A (p.Arg269Gln)
n.2605G>A
n.2616G>A
 dbSNP gnomAD v2 gnomAD v4
16g.53645748G>ACA281339134RPGRIP1Lc.2560C>T (p.Arg854Ter)
n.2984C>T
c.2572C>T (p.Arg858Ter)
c.805C>T (p.Arg269Ter)
n.2604C>T
n.2615C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.53645748G>CCA395914336RPGRIP1Lc.2560C>G (p.Arg854Gly)
n.2984C>G
c.2572C>G (p.Arg858Gly)
c.805C>G (p.Arg269Gly)
n.2604C>G
n.2615C>G
16g.53645748G=CA2223254133RPGRIP1Lc.2560C= (p.Arg854=)
n.2984C=
c.2572C= (p.Arg858=)
c.805C= (p.Arg269=)
n.2604C=
n.2615C=
16g.53645748G>TCA495784479RPGRIP1Lc.2560C>A (p.Arg854=)
n.2984C>A
c.2572C>A (p.Arg858=)
c.805C>A (p.Arg269=)
n.2604C>A
n.2615C>A
16g.53645749A>CCA395914337RPGRIP1Lc.2559T>G (p.Asp853Glu)
n.2983T>G
c.2571T>G (p.Asp857Glu)
c.804T>G (p.Asp268Glu)
n.2603T>G
n.2614T>G
16g.53645749A>GCA495784480RPGRIP1Lc.2559T>C (p.Asp853=)
n.2983T>C
c.2571T>C (p.Asp857=)
c.804T>C (p.Asp268=)
n.2603T>C
n.2614T>C
16g.53645749A>TCA395914338RPGRIP1Lc.2559T>A (p.Asp853Glu)
n.2983T>A
c.2571T>A (p.Asp857Glu)
c.804T>A (p.Asp268Glu)
n.2603T>A
n.2614T>A
16g.53645750T>ACA395914341RPGRIP1Lc.2558A>T (p.Asp853Val)
n.2982A>T
c.2570A>T (p.Asp857Val)
c.803A>T (p.Asp268Val)
n.2602A>T
n.2613A>T
 dbSNP gnomAD v4
16g.53645750T>CCA395914340RPGRIP1Lc.2558A>G (p.Asp853Gly)
n.2982A>G
c.2570A>G (p.Asp857Gly)
c.803A>G (p.Asp268Gly)
n.2602A>G
n.2613A>G
16g.53645750T>GCA395914339RPGRIP1Lc.2558A>C (p.Asp853Ala)
n.2982A>C
c.2570A>C (p.Asp857Ala)
c.803A>C (p.Asp268Ala)
n.2602A>C
n.2613A>C
16g.53645750T=CA2223254142RPGRIP1Lc.2558A= (p.Asp853=)
n.2982A=
c.2570A= (p.Asp857=)
c.803A= (p.Asp268=)
n.2602A=
n.2613A=
16g.53645751C>ACA395914342RPGRIP1Lc.2557G>T (p.Asp853Tyr)
n.2981G>T
c.2569G>T (p.Asp857Tyr)
c.802G>T (p.Asp268Tyr)
n.2601G>T
n.2612G>T
16g.53645751C>GCA395914344RPGRIP1Lc.2557G>C (p.Asp853His)
n.2981G>C
c.2569G>C (p.Asp857His)
c.802G>C (p.Asp268His)
n.2601G>C
n.2612G>C
16g.53645751C>TCA395914343RPGRIP1Lc.2557G>A (p.Asp853Asn)
n.2981G>A
c.2569G>A (p.Asp857Asn)
c.802G>A (p.Asp268Asn)
n.2601G>A
n.2612G>A
 gnomAD v4
16g.53645752C>ACA395914345RPGRIP1Lc.2556G>T (p.Leu852Phe)
n.2980G>T
c.2568G>T (p.Leu856Phe)
c.801G>T (p.Leu267Phe)
n.2600G>T
n.2611G>T
 dbSNP gnomAD v2 gnomAD v4
16g.53645752C=CA2223254151RPGRIP1Lc.2556G= (p.Leu852=)
n.2980G=
c.2568G= (p.Leu856=)
c.801G= (p.Leu267=)
n.2600G=
n.2611G=
16g.53645752C>GCA395914346RPGRIP1Lc.2556G>C (p.Leu852Phe)
n.2980G>C
c.2568G>C (p.Leu856Phe)
c.801G>C (p.Leu267Phe)
n.2600G>C
n.2611G>C
16g.53645752C>TCA495784483RPGRIP1Lc.2556G>A (p.Leu852=)
n.2980G>A
c.2568G>A (p.Leu856=)
c.801G>A (p.Leu267=)
n.2600G>A
n.2611G>A
 dbSNP gnomAD v4
16g.53645753A>CCA395914347RPGRIP1Lc.2555T>G (p.Leu852Trp)
n.2979T>G
c.2567T>G (p.Leu856Trp)
c.800T>G (p.Leu267Trp)
n.2599T>G
n.2610T>G
16g.53645753A>GCA395914348RPGRIP1Lc.2555T>C (p.Leu852Ser)
n.2979T>C
c.2567T>C (p.Leu856Ser)
c.800T>C (p.Leu267Ser)
n.2599T>C
n.2610T>C
16g.53645753A>TCA395914349RPGRIP1Lc.2555T>A (p.Leu852Ter)
n.2979T>A
c.2567T>A (p.Leu856Ter)
c.800T>A (p.Leu267Ter)
n.2599T>A
n.2610T>A
16g.53645754A>CCA395914350RPGRIP1Lc.2554T>G (p.Leu852Val)
n.2978T>G
c.2566T>G (p.Leu856Val)
c.799T>G (p.Leu267Val)
n.2598T>G
n.2609T>G
16g.53645754A>GCA495784485RPGRIP1Lc.2554T>C (p.Leu852=)
n.2978T>C
c.2566T>C (p.Leu856=)
c.799T>C (p.Leu267=)
n.2598T>C
n.2609T>C
16g.53645754A>TCA395914351RPGRIP1Lc.2554T>A (p.Leu852Met)
n.2978T>A
c.2566T>A (p.Leu856Met)
c.799T>A (p.Leu267Met)
n.2598T>A
n.2609T>A
16g.53645755G>ACA495784486RPGRIP1Lc.2553C>T (p.Asp851=)
n.2977C>T
c.2565C>T (p.Asp855=)
c.798C>T (p.Asp266=)
n.2597C>T
n.2608C>T
 dbSNP
16g.53645755G>CCA395914352RPGRIP1Lc.2553C>G (p.Asp851Glu)
n.2977C>G
c.2565C>G (p.Asp855Glu)
c.798C>G (p.Asp266Glu)
n.2597C>G
n.2608C>G
16g.53645755G>TCA395914353RPGRIP1Lc.2553C>A (p.Asp851Glu)
n.2977C>A
c.2565C>A (p.Asp855Glu)
c.798C>A (p.Asp266Glu)
n.2597C>A
n.2608C>A
16g.53645756T>ACA8057527RPGRIP1Lc.2552A>T (p.Asp851Val)
n.2976A>T
c.2564A>T (p.Asp855Val)
c.797A>T (p.Asp266Val)
n.2596A>T
n.2607A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.53645756T>CCA395914354RPGRIP1Lc.2552A>G (p.Asp851Gly)
n.2976A>G
c.2564A>G (p.Asp855Gly)
c.797A>G (p.Asp266Gly)
n.2596A>G
n.2607A>G
 dbSNP gnomAD v2 gnomAD v4
16g.53645756T>GCA395914355RPGRIP1Lc.2552A>C (p.Asp851Ala)
n.2976A>C
c.2564A>C (p.Asp855Ala)
c.797A>C (p.Asp266Ala)
n.2596A>C
n.2607A>C
16g.53645756T=CA2223254158RPGRIP1Lc.2552A= (p.Asp851=)
n.2976A=
c.2564A= (p.Asp855=)
c.797A= (p.Asp266=)
n.2596A=
n.2607A=
16g.53645757C>ACA395914358RPGRIP1Lc.2551G>T (p.Asp851Tyr)
n.2975G>T
c.2563G>T (p.Asp855Tyr)
c.796G>T (p.Asp266Tyr)
n.2595G>T
n.2606G>T
 gnomAD v4
16g.53645757C>GCA395914356RPGRIP1Lc.2551G>C (p.Asp851His)
n.2975G>C
c.2563G>C (p.Asp855His)
c.796G>C (p.Asp266His)
n.2595G>C
n.2606G>C
16g.53645757C>TCA395914357RPGRIP1Lc.2551G>A (p.Asp851Asn)
n.2975G>A
c.2563G>A (p.Asp855Asn)
c.796G>A (p.Asp266Asn)
n.2595G>A
n.2606G>A
16g.53645758C>ACA395914359RPGRIP1Lc.2550G>T (p.Met850Ile)
n.2974G>T
c.2562G>T (p.Met854Ile)
c.795G>T (p.Met265Ile)
n.2594G>T
n.2605G>T
16g.53645758C>GCA395914360RPGRIP1Lc.2550G>C (p.Met850Ile)
n.2974G>C
c.2562G>C (p.Met854Ile)
c.795G>C (p.Met265Ile)
n.2594G>C
n.2605G>C
16g.53645758C>TCA395914361RPGRIP1Lc.2550G>A (p.Met850Ile)
n.2974G>A
c.2562G>A (p.Met854Ile)
c.795G>A (p.Met265Ile)
n.2594G>A
n.2605G>A
16g.53645759A>CCA395914362RPGRIP1Lc.2549T>G (p.Met850Arg)
n.2973T>G
c.2561T>G (p.Met854Arg)
c.794T>G (p.Met265Arg)
n.2593T>G
n.2604T>G
16g.53645759A>GCA395914363RPGRIP1Lc.2549T>C (p.Met850Thr)
n.2973T>C
c.2561T>C (p.Met854Thr)
c.794T>C (p.Met265Thr)
n.2593T>C
n.2604T>C
16g.53645759A>TCA395914364RPGRIP1Lc.2549T>A (p.Met850Lys)
n.2973T>A
c.2561T>A (p.Met854Lys)
c.794T>A (p.Met265Lys)
n.2593T>A
n.2604T>A
16g.53645760T>ACA395914365RPGRIP1Lc.2548A>T (p.Met850Leu)
n.2972A>T
c.2560A>T (p.Met854Leu)
c.793A>T (p.Met265Leu)
n.2592A>T
n.2603A>T
 COSMIC
16g.53645760T>CCA395914366RPGRIP1Lc.2548A>G (p.Met850Val)
n.2972A>G
c.2560A>G (p.Met854Val)
c.793A>G (p.Met265Val)
n.2592A>G
n.2603A>G
 dbSNP gnomAD v4
16g.53645760T>GCA395914367RPGRIP1Lc.2548A>C (p.Met850Leu)
n.2972A>C
c.2560A>C (p.Met854Leu)
c.793A>C (p.Met265Leu)
n.2592A>C
n.2603A>C
16g.53645760T=CA2223254165RPGRIP1Lc.2548A= (p.Met850=)
n.2972A=
c.2560A= (p.Met854=)
c.793A= (p.Met265=)
n.2592A=
n.2603A=
16g.53645761A>CCA395914368RPGRIP1Lc.2547T>G (p.Asn849Lys)
n.2971T>G
c.2559T>G (p.Asn853Lys)
c.792T>G (p.Asn264Lys)
n.2591T>G
n.2602T>G
16g.53645761A>GCA495784494RPGRIP1Lc.2547T>C (p.Asn849=)
n.2971T>C
c.2559T>C (p.Asn853=)
c.792T>C (p.Asn264=)
n.2591T>C
n.2602T>C
16g.53645761A>TCA395914369RPGRIP1Lc.2547T>A (p.Asn849Lys)
n.2971T>A
c.2559T>A (p.Asn853Lys)
c.792T>A (p.Asn264Lys)
n.2591T>A
n.2602T>A
16g.53645762T>ACA395914372RPGRIP1Lc.2546A>T (p.Asn849Ile)
n.2970A>T
c.2558A>T (p.Asn853Ile)
c.791A>T (p.Asn264Ile)
n.2590A>T
n.2601A>T
16g.53645762T>CCA395914371RPGRIP1Lc.2546A>G (p.Asn849Ser)
n.2970A>G
c.2558A>G (p.Asn853Ser)
c.791A>G (p.Asn264Ser)
n.2590A>G
n.2601A>G
 dbSNP
16g.53645762T>GCA395914370RPGRIP1Lc.2546A>C (p.Asn849Thr)
n.2970A>C
c.2558A>C (p.Asn853Thr)
c.791A>C (p.Asn264Thr)
n.2590A>C
n.2601A>C
16g.53645762T=CA2223254170RPGRIP1Lc.2546A= (p.Asn849=)
n.2970A=
c.2558A= (p.Asn853=)
c.791A= (p.Asn264=)
n.2590A=
n.2601A=
16g.53645763T>ACA395914373RPGRIP1Lc.2545A>T (p.Asn849Tyr)
n.2969A>T
c.2557A>T (p.Asn853Tyr)
c.790A>T (p.Asn264Tyr)
n.2589A>T
n.2600A>T
16g.53645763T>CCA395914374RPGRIP1Lc.2545A>G (p.Asn849Asp)
n.2969A>G
c.2557A>G (p.Asn853Asp)
c.790A>G (p.Asn264Asp)
n.2589A>G
n.2600A>G
16g.53645763T>GCA395914375RPGRIP1Lc.2545A>C (p.Asn849His)
n.2969A>C
c.2557A>C (p.Asn853His)
c.790A>C (p.Asn264His)
n.2589A>C
n.2600A>C
16g.53645764C>ACA395914376RPGRIP1Lc.2544G>T (p.Met848Ile)
n.2968G>T
c.2556G>T (p.Met852Ile)
c.789G>T (p.Met263Ile)
n.2588G>T
n.2599G>T
16g.53645764C=CA2223254175RPGRIP1Lc.2544G= (p.Met848=)
n.2968G=
c.2556G= (p.Met852=)
c.789G= (p.Met263=)
n.2588G=
n.2599G=
16g.53645764C>GCA395914377RPGRIP1Lc.2544G>C (p.Met848Ile)
n.2968G>C
c.2556G>C (p.Met852Ile)
c.789G>C (p.Met263Ile)
n.2588G>C
n.2599G>C
16g.53645764C>TCA395914378RPGRIP1Lc.2544G>A (p.Met848Ile)
n.2968G>A
c.2556G>A (p.Met852Ile)
c.789G>A (p.Met263Ile)
n.2588G>A
n.2599G>A
 dbSNP gnomAD v2 gnomAD v4
16g.53645765A=CA2223254177RPGRIP1Lc.2543T= (p.Met848=)
n.2967T=
c.2555T= (p.Met852=)
c.788T= (p.Met263=)
n.2587T=
n.2598T=
16g.53645765A>CCA395914379RPGRIP1Lc.2543T>G (p.Met848Arg)
n.2967T>G
c.2555T>G (p.Met852Arg)
c.788T>G (p.Met263Arg)
n.2587T>G
n.2598T>G
16g.53645765A>GCA395914380RPGRIP1Lc.2543T>C (p.Met848Thr)
n.2967T>C
c.2555T>C (p.Met852Thr)
c.788T>C (p.Met263Thr)
n.2587T>C
n.2598T>C
16g.53645765A>TCA395914381RPGRIP1Lc.2543T>A (p.Met848Lys)
n.2967T>A
c.2555T>A (p.Met852Lys)
c.788T>A (p.Met263Lys)
n.2587T>A
n.2598T>A
 dbSNP gnomAD v2 gnomAD v4
16g.53645766T>ACA395914382RPGRIP1Lc.2542A>T (p.Met848Leu)
n.2966A>T
c.2554A>T (p.Met852Leu)
c.787A>T (p.Met263Leu)
n.2586A>T
n.2597A>T
16g.53645766T>CCA8057528RPGRIP1Lc.2542A>G (p.Met848Val)
n.2966A>G
c.2554A>G (p.Met852Val)
c.787A>G (p.Met263Val)
n.2586A>G
n.2597A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645766T>GCA395914383RPGRIP1Lc.2542A>C (p.Met848Leu)
n.2966A>C
c.2554A>C (p.Met852Leu)
c.787A>C (p.Met263Leu)
n.2586A>C
n.2597A>C
16g.53645766T=CA2223254182RPGRIP1Lc.2542A= (p.Met848=)
n.2966A=
c.2554A= (p.Met852=)
c.787A= (p.Met263=)
n.2586A=
n.2597A=
16g.53645767T>ACA495784505RPGRIP1Lc.2541A>T (p.Pro847=)
n.2965A>T
c.2553A>T (p.Pro851=)
c.786A>T (p.Pro262=)
n.2585A>T
n.2596A>T
16g.53645767T>CCA495784506RPGRIP1Lc.2541A>G (p.Pro847=)
n.2965A>G
c.2553A>G (p.Pro851=)
c.786A>G (p.Pro262=)
n.2585A>G
n.2596A>G
16g.53645767T>GCA495784507RPGRIP1Lc.2541A>C (p.Pro847=)
n.2965A>C
c.2553A>C (p.Pro851=)
c.786A>C (p.Pro262=)
n.2585A>C
n.2596A>C
16g.53645768G>ACA395914386RPGRIP1Lc.2540C>T (p.Pro847Leu)
n.2964C>T
c.2552C>T (p.Pro851Leu)
c.785C>T (p.Pro262Leu)
n.2584C>T
n.2595C>T
 gnomAD v4
16g.53645768G>CCA395914385RPGRIP1Lc.2540C>G (p.Pro847Arg)
n.2964C>G
c.2552C>G (p.Pro851Arg)
c.785C>G (p.Pro262Arg)
n.2584C>G
n.2595C>G
16g.53645768G>TCA395914384RPGRIP1Lc.2540C>A (p.Pro847Gln)
n.2964C>A
c.2552C>A (p.Pro851Gln)
c.785C>A (p.Pro262Gln)
n.2584C>A
n.2595C>A
16g.53645769G>ACA395914387RPGRIP1Lc.2539C>T (p.Pro847Ser)
n.2963C>T
c.2551C>T (p.Pro851Ser)
c.784C>T (p.Pro262Ser)
n.2583C>T
n.2594C>T
16g.53645769G>CCA395914388RPGRIP1Lc.2539C>G (p.Pro847Ala)
n.2963C>G
c.2551C>G (p.Pro851Ala)
c.784C>G (p.Pro262Ala)
n.2583C>G
n.2594C>G
 gnomAD v4
16g.53645769G>TCA395914389RPGRIP1Lc.2539C>A (p.Pro847Thr)
n.2963C>A
c.2551C>A (p.Pro851Thr)
c.784C>A (p.Pro262Thr)
n.2583C>A
n.2594C>A
16g.53645770C>ACA495784513RPGRIP1Lc.2538G>T (p.Val846=)
n.2962G>T
c.2550G>T (p.Val850=)
c.783G>T (p.Val261=)
n.2582G>T
n.2593G>T
16g.53645770C>GCA495784514RPGRIP1Lc.2538G>C (p.Val846=)
n.2962G>C
c.2550G>C (p.Val850=)
c.783G>C (p.Val261=)
n.2582G>C
n.2593G>C
16g.53645770C>TCA495784515RPGRIP1Lc.2538G>A (p.Val846=)
n.2962G>A
c.2550G>A (p.Val850=)
c.783G>A (p.Val261=)
n.2582G>A
n.2593G>A
16g.53645771A=CA2223254192RPGRIP1Lc.2537T= (p.Val846=)
n.2961T=
c.2549T= (p.Val850=)
c.782T= (p.Val261=)
n.2581T=
n.2592T=
16g.53645771A>CCA395914390RPGRIP1Lc.2537T>G (p.Val846Gly)
n.2961T>G
c.2549T>G (p.Val850Gly)
c.782T>G (p.Val261Gly)
n.2581T>G
n.2592T>G
16g.53645771A>GCA8057529RPGRIP1Lc.2537T>C (p.Val846Ala)
n.2961T>C
c.2549T>C (p.Val850Ala)
c.782T>C (p.Val261Ala)
n.2581T>C
n.2592T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645771A>TCA395914392RPGRIP1Lc.2537T>A (p.Val846Glu)
n.2961T>A
c.2549T>A (p.Val850Glu)
c.782T>A (p.Val261Glu)
n.2581T>A
n.2592T>A
16g.53645772C>ACA395914393RPGRIP1Lc.2536G>T (p.Val846Leu)
n.2960G>T
c.2548G>T (p.Val850Leu)
c.781G>T (p.Val261Leu)
n.2580G>T
n.2591G>T
16g.53645772C>GCA395914394RPGRIP1Lc.2536G>C (p.Val846Leu)
n.2960G>C
c.2548G>C (p.Val850Leu)
c.781G>C (p.Val261Leu)
n.2580G>C
n.2591G>C
16g.53645772C>TCA395914395RPGRIP1Lc.2536G>A (p.Val846Met)
n.2960G>A
c.2548G>A (p.Val850Met)
c.781G>A (p.Val261Met)
n.2580G>A
n.2591G>A
16g.53645773T>ACA495784522RPGRIP1Lc.2535A>T (p.Pro845=)
n.2959A>T
c.2547A>T (p.Pro849=)
c.780A>T (p.Pro260=)
n.2579A>T
n.2590A>T
16g.53645773T>CCA495784524RPGRIP1Lc.2535A>G (p.Pro845=)
n.2959A>G
c.2547A>G (p.Pro849=)
c.780A>G (p.Pro260=)
n.2579A>G
n.2590A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.53645773T>GCA495784526RPGRIP1Lc.2535A>C (p.Pro845=)
n.2959A>C
c.2547A>C (p.Pro849=)
c.780A>C (p.Pro260=)
n.2579A>C
n.2590A>C
16g.53645773T=CA2223254198RPGRIP1Lc.2535A= (p.Pro845=)
n.2959A=
c.2547A= (p.Pro849=)
c.780A= (p.Pro260=)
n.2579A=
n.2590A=
16g.53645774G>ACA281339162RPGRIP1Lc.2534C>T (p.Pro845Leu)
n.2958C>T
c.2546C>T (p.Pro849Leu)
c.779C>T (p.Pro260Leu)
n.2578C>T
n.2589C>T
 dbSNP gnomAD v3 gnomAD v4
16g.53645774G>CCA395914396RPGRIP1Lc.2534C>G (p.Pro845Arg)
n.2958C>G
c.2546C>G (p.Pro849Arg)
c.779C>G (p.Pro260Arg)
n.2578C>G
n.2589C>G
16g.53645774G=CA2223254202RPGRIP1Lc.2534C= (p.Pro845=)
n.2958C=
c.2546C= (p.Pro849=)
c.779C= (p.Pro260=)
n.2578C=
n.2589C=
16g.53645774G>TCA395914397RPGRIP1Lc.2534C>A (p.Pro845Gln)
n.2958C>A
c.2546C>A (p.Pro849Gln)
c.779C>A (p.Pro260Gln)
n.2578C>A
n.2589C>A
 gnomAD v4
16g.53645775G>ACA395914400RPGRIP1Lc.2533C>T (p.Pro845Ser)
n.2957C>T
c.2545C>T (p.Pro849Ser)
c.778C>T (p.Pro260Ser)
n.2577C>T
n.2588C>T
16g.53645775G>CCA395914398RPGRIP1Lc.2533C>G (p.Pro845Ala)
n.2957C>G
c.2545C>G (p.Pro849Ala)
c.778C>G (p.Pro260Ala)
n.2577C>G
n.2588C>G
16g.53645775G>TCA395914399RPGRIP1Lc.2533C>A (p.Pro845Thr)
n.2957C>A
c.2545C>A (p.Pro849Thr)
c.778C>A (p.Pro260Thr)
n.2577C>A
n.2588C>A
16g.53645776G>ACA8057530RPGRIP1Lc.2532C>T (p.Phe844=)
n.2956C>T
c.2544C>T (p.Phe848=)
c.777C>T (p.Phe259=)
n.2576C>T
n.2587C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.53645776G>CCA395914401RPGRIP1Lc.2532C>G (p.Phe844Leu)
n.2956C>G
c.2544C>G (p.Phe848Leu)
c.777C>G (p.Phe259Leu)
n.2576C>G
n.2587C>G
 dbSNP gnomAD v2 gnomAD v4
16g.53645776G=CA2223254213RPGRIP1Lc.2532C= (p.Phe844=)
n.2956C=
c.2544C= (p.Phe848=)
c.777C= (p.Phe259=)
n.2576C=
n.2587C=
16g.53645776G>TCA395914402RPGRIP1Lc.2532C>A (p.Phe844Leu)
n.2956C>A
c.2544C>A (p.Phe848Leu)
c.777C>A (p.Phe259Leu)
n.2576C>A
n.2587C>A
16g.53645777A>CCA395914403RPGRIP1Lc.2531T>G (p.Phe844Cys)
n.2955T>G
c.2543T>G (p.Phe848Cys)
c.776T>G (p.Phe259Cys)
n.2575T>G
n.2586T>G
16g.53645777A>GCA395914404RPGRIP1Lc.2531T>C (p.Phe844Ser)
n.2955T>C
c.2543T>C (p.Phe848Ser)
c.776T>C (p.Phe259Ser)
n.2575T>C
n.2586T>C
16g.53645777A>TCA395914405RPGRIP1Lc.2531T>A (p.Phe844Tyr)
n.2955T>A
c.2543T>A (p.Phe848Tyr)
c.776T>A (p.Phe259Tyr)
n.2575T>A
n.2586T>A
16g.53645778A>CCA395914406RPGRIP1Lc.2530T>G (p.Phe844Val)
n.2954T>G
c.2542T>G (p.Phe848Val)
c.775T>G (p.Phe259Val)
n.2574T>G
n.2585T>G
16g.53645778A>GCA395914407RPGRIP1Lc.2530T>C (p.Phe844Leu)
n.2954T>C
c.2542T>C (p.Phe848Leu)
c.775T>C (p.Phe259Leu)
n.2574T>C
n.2585T>C
16g.53645778A>TCA395914408RPGRIP1Lc.2530T>A (p.Phe844Ile)
n.2954T>A
c.2542T>A (p.Phe848Ile)
c.775T>A (p.Phe259Ile)
n.2574T>A
n.2585T>A
16g.53645779A>CCA395914409RPGRIP1Lc.2529T>G (p.Tyr843Ter)
n.2953T>G
c.2541T>G (p.Tyr847Ter)
c.774T>G (p.Tyr258Ter)
n.2573T>G
n.2584T>G
16g.53645779A>GCA495784540RPGRIP1Lc.2529T>C (p.Tyr843=)
n.2953T>C
c.2541T>C (p.Tyr847=)
c.774T>C (p.Tyr258=)
n.2573T>C
n.2584T>C
16g.53645779A>TCA395914410RPGRIP1Lc.2529T>A (p.Tyr843Ter)
n.2953T>A
c.2541T>A (p.Tyr847Ter)
c.774T>A (p.Tyr258Ter)
n.2573T>A
n.2584T>A
16g.53645780T>ACA395914411RPGRIP1Lc.2528A>T (p.Tyr843Phe)
n.2952A>T
c.2540A>T (p.Tyr847Phe)
c.773A>T (p.Tyr258Phe)
n.2572A>T
n.2583A>T
16g.53645780T>CCA395914412RPGRIP1Lc.2528A>G (p.Tyr843Cys)
n.2952A>G
c.2540A>G (p.Tyr847Cys)
c.773A>G (p.Tyr258Cys)
n.2572A>G
n.2583A>G
 gnomAD v4
16g.53645780T>GCA395914413RPGRIP1Lc.2528A>C (p.Tyr843Ser)
n.2952A>C
c.2540A>C (p.Tyr847Ser)
c.773A>C (p.Tyr258Ser)
n.2572A>C
n.2583A>C
16g.53645781A>CCA395914416RPGRIP1Lc.2527T>G (p.Tyr843Asp)
n.2951T>G
c.2539T>G (p.Tyr847Asp)
c.772T>G (p.Tyr258Asp)
n.2571T>G
n.2582T>G
16g.53645781A>GCA395914415RPGRIP1Lc.2527T>C (p.Tyr843His)
n.2951T>C
c.2539T>C (p.Tyr847His)
c.772T>C (p.Tyr258His)
n.2571T>C
n.2582T>C
16g.53645781A>TCA395914414RPGRIP1Lc.2527T>A (p.Tyr843Asn)
n.2951T>A
c.2539T>A (p.Tyr847Asn)
c.772T>A (p.Tyr258Asn)
n.2571T>A
n.2582T>A
16g.53645782C>ACA395914417RPGRIP1Lc.2526G>T (p.Met842Ile)
n.2950G>T
c.2538G>T (p.Met846Ile)
c.771G>T (p.Met257Ile)
n.2570G>T
n.2581G>T
16g.53645782C=CA2223254220RPGRIP1Lc.2526G= (p.Met842=)
n.2950G=
c.2538G= (p.Met846=)
c.771G= (p.Met257=)
n.2570G=
n.2581G=
16g.53645782C>GCA395914418RPGRIP1Lc.2526G>C (p.Met842Ile)
n.2950G>C
c.2538G>C (p.Met846Ile)
c.771G>C (p.Met257Ile)
n.2570G>C
n.2581G>C
16g.53645782C>TCA395914419RPGRIP1Lc.2526G>A (p.Met842Ile)
n.2950G>A
c.2538G>A (p.Met846Ile)
c.771G>A (p.Met257Ile)
n.2570G>A
n.2581G>A
 dbSNP gnomAD v4
16g.53645783A=CA2223254224RPGRIP1Lc.2525T= (p.Met842=)
n.2949T=
c.2537T= (p.Met846=)
c.770T= (p.Met257=)
n.2569T=
n.2580T=
16g.53645783A>CCA395914420RPGRIP1Lc.2525T>G (p.Met842Arg)
n.2949T>G
c.2537T>G (p.Met846Arg)
c.770T>G (p.Met257Arg)
n.2569T>G
n.2580T>G
16g.53645783A>GCA395914421RPGRIP1Lc.2525T>C (p.Met842Thr)
n.2949T>C
c.2537T>C (p.Met846Thr)
c.770T>C (p.Met257Thr)
n.2569T>C
n.2580T>C
16g.53645783A>TCA395914422RPGRIP1Lc.2525T>A (p.Met842Lys)
n.2949T>A
c.2537T>A (p.Met846Lys)
c.770T>A (p.Met257Lys)
n.2569T>A
n.2580T>A
16g.53645784T>ACA395914423RPGRIP1Lc.2524A>T (p.Met842Leu)
n.2948A>T
c.2536A>T (p.Met846Leu)
c.769A>T (p.Met257Leu)
n.2568A>T
n.2579A>T
16g.53645784T>CCA395914424RPGRIP1Lc.2524A>G (p.Met842Val)
n.2948A>G
c.2536A>G (p.Met846Val)
c.769A>G (p.Met257Val)
n.2568A>G
n.2579A>G
 gnomAD v4
16g.53645784T>GCA395914425RPGRIP1Lc.2524A>C (p.Met842Leu)
n.2948A>C
c.2536A>C (p.Met846Leu)
c.769A>C (p.Met257Leu)
n.2568A>C
n.2579A>C
16g.53645784dupCA2223254227RPGRIP1Lc.2524dup (p.Met842AsnfsTer16)
n.2948dup
c.2536dup (p.Met846AsnfsTer16)
c.769dup (p.Met257AsnfsTer16)
n.2568dup
n.2579dup
 dbSNP
16g.53645785A=CA2223254232RPGRIP1Lc.2523T= (p.His841=)
n.2947T=
c.2535T= (p.His845=)
c.768T= (p.His256=)
n.2567T=
n.2578T=
16g.53645785A>CCA395914426RPGRIP1Lc.2523T>G (p.His841Gln)
n.2947T>G
c.2535T>G (p.His845Gln)
c.768T>G (p.His256Gln)
n.2567T>G
n.2578T>G
16g.53645785A>GCA495784555RPGRIP1Lc.2523T>C (p.His841=)
n.2947T>C
c.2535T>C (p.His845=)
c.768T>C (p.His256=)
n.2567T>C
n.2578T>C
 ClinVar dbSNP gnomAD v4
16g.53645785A>TCA395914427RPGRIP1Lc.2523T>A (p.His841Gln)
n.2947T>A
c.2535T>A (p.His845Gln)
c.768T>A (p.His256Gln)
n.2567T>A
n.2578T>A
16g.53645786T>ACA395914428RPGRIP1Lc.2522A>T (p.His841Leu)
n.2946A>T
c.2534A>T (p.His845Leu)
c.767A>T (p.His256Leu)
n.2566A>T
n.2577A>T
 gnomAD v4
16g.53645786T>CCA8057531RPGRIP1Lc.2522A>G (p.His841Arg)
n.2946A>G
c.2534A>G (p.His845Arg)
c.767A>G (p.His256Arg)
n.2566A>G
n.2577A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645786T>GCA395914429RPGRIP1Lc.2522A>C (p.His841Pro)
n.2946A>C
c.2534A>C (p.His845Pro)
c.767A>C (p.His256Pro)
n.2566A>C
n.2577A>C
16g.53645786T=CA2223254243RPGRIP1Lc.2522A= (p.His841=)
n.2946A=
c.2534A= (p.His845=)
c.767A= (p.His256=)
n.2566A=
n.2577A=
16g.53645787G>ACA395914432RPGRIP1Lc.2521C>T (p.His841Tyr)
n.2945C>T
c.2533C>T (p.His845Tyr)
c.766C>T (p.His256Tyr)
n.2565C>T
n.2576C>T
16g.53645787G>CCA395914431RPGRIP1Lc.2521C>G (p.His841Asp)
n.2945C>G
c.2533C>G (p.His845Asp)
c.766C>G (p.His256Asp)
n.2565C>G
n.2576C>G
 dbSNP gnomAD v2 gnomAD v4
16g.53645787G=CA2223254247RPGRIP1Lc.2521C= (p.His841=)
n.2945C=
c.2533C= (p.His845=)
c.766C= (p.His256=)
n.2565C=
n.2576C=
16g.53645787G>TCA395914430RPGRIP1Lc.2521C>A (p.His841Asn)
n.2945C>A
c.2533C>A (p.His845Asn)
c.766C>A (p.His256Asn)
n.2565C>A
n.2576C>A
16g.53645788A>CCA395914433RPGRIP1Lc.2520T>G (p.Asp840Glu)
n.2944T>G
c.2532T>G (p.Asp844Glu)
c.765T>G (p.Asp255Glu)
n.2564T>G
n.2575T>G
16g.53645788A>GCA495784557RPGRIP1Lc.2520T>C (p.Asp840=)
n.2944T>C
c.2532T>C (p.Asp844=)
c.765T>C (p.Asp255=)
n.2564T>C
n.2575T>C
16g.53645788A>TCA395914434RPGRIP1Lc.2520T>A (p.Asp840Glu)
n.2944T>A
c.2532T>A (p.Asp844Glu)
c.765T>A (p.Asp255Glu)
n.2564T>A
n.2575T>A
16g.53645789T>ACA395914435RPGRIP1Lc.2519A>T (p.Asp840Val)
n.2943A>T
c.2531A>T (p.Asp844Val)
c.764A>T (p.Asp255Val)
n.2563A>T
n.2574A>T
 dbSNP gnomAD v2 gnomAD v4
16g.53645789T>CCA281339187RPGRIP1Lc.2519A>G (p.Asp840Gly)
n.2943A>G
c.2531A>G (p.Asp844Gly)
c.764A>G (p.Asp255Gly)
n.2563A>G
n.2574A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.53645789T>GCA395914436RPGRIP1Lc.2519A>C (p.Asp840Ala)
n.2943A>C
c.2531A>C (p.Asp844Ala)
c.764A>C (p.Asp255Ala)
n.2563A>C
n.2574A>C
16g.53645789T=CA2223254251RPGRIP1Lc.2519A= (p.Asp840=)
n.2943A=
c.2531A= (p.Asp844=)
c.764A= (p.Asp255=)
n.2563A=
n.2574A=
16g.53645790C>ACA395914437RPGRIP1Lc.2518G>T (p.Asp840Tyr)
n.2942G>T
c.2530G>T (p.Asp844Tyr)
c.763G>T (p.Asp255Tyr)
n.2562G>T
n.2573G>T
 gnomAD v4
16g.53645790C>GCA395914438RPGRIP1Lc.2518G>C (p.Asp840His)
n.2942G>C
c.2530G>C (p.Asp844His)
c.763G>C (p.Asp255His)
n.2562G>C
n.2573G>C
16g.53645790C>TCA395914439RPGRIP1Lc.2518G>A (p.Asp840Asn)
n.2942G>A
c.2530G>A (p.Asp844Asn)
c.763G>A (p.Asp255Asn)
n.2562G>A
n.2573G>A
16g.53645791A>CCA395914440RPGRIP1Lc.2517T>G (p.Asp839Glu)
n.2941T>G
c.2529T>G (p.Asp843Glu)
c.762T>G (p.Asp254Glu)
n.2561T>G
n.2572T>G
 gnomAD v4
16g.53645791A>GCA495784563RPGRIP1Lc.2517T>C (p.Asp839=)
n.2941T>C
c.2529T>C (p.Asp843=)
c.762T>C (p.Asp254=)
n.2561T>C
n.2572T>C
 gnomAD v4
16g.53645791A>TCA395914441RPGRIP1Lc.2517T>A (p.Asp839Glu)
n.2941T>A
c.2529T>A (p.Asp843Glu)
c.762T>A (p.Asp254Glu)
n.2561T>A
n.2572T>A
16g.53645792T>ACA395914442RPGRIP1Lc.2516A>T (p.Asp839Val)
n.2940A>T
c.2528A>T (p.Asp843Val)
c.761A>T (p.Asp254Val)
n.2560A>T
n.2571A>T
 gnomAD v4
16g.53645792T>CCA395914443RPGRIP1Lc.2516A>G (p.Asp839Gly)
n.2940A>G
c.2528A>G (p.Asp843Gly)
c.761A>G (p.Asp254Gly)
n.2560A>G
n.2571A>G
16g.53645792T>GCA395914444RPGRIP1Lc.2516A>C (p.Asp839Ala)
n.2940A>C
c.2528A>C (p.Asp843Ala)
c.761A>C (p.Asp254Ala)
n.2560A>C
n.2571A>C
16g.53645793C>ACA395914447RPGRIP1Lc.2515G>T (p.Asp839Tyr)
n.2939G>T
c.2527G>T (p.Asp843Tyr)
c.760G>T (p.Asp254Tyr)
n.2559G>T
n.2570G>T
16g.53645793C>GCA395914446RPGRIP1Lc.2515G>C (p.Asp839His)
n.2939G>C
c.2527G>C (p.Asp843His)
c.760G>C (p.Asp254His)
n.2559G>C
n.2570G>C
16g.53645793C>TCA395914445RPGRIP1Lc.2515G>A (p.Asp839Asn)
n.2939G>A
c.2527G>A (p.Asp843Asn)
c.760G>A (p.Asp254Asn)
n.2559G>A
n.2570G>A
16g.53645794A>CCA395914448RPGRIP1Lc.2514T>G (p.Phe838Leu)
n.2938T>G
c.2526T>G (p.Phe842Leu)
c.759T>G (p.Phe253Leu)
n.2558T>G
n.2569T>G
16g.53645794A>GCA495784568RPGRIP1Lc.2514T>C (p.Phe838=)
n.2938T>C
c.2526T>C (p.Phe842=)
c.759T>C (p.Phe253=)
n.2558T>C
n.2569T>C
16g.53645794A>TCA395914449RPGRIP1Lc.2514T>A (p.Phe838Leu)
n.2938T>A
c.2526T>A (p.Phe842Leu)
c.759T>A (p.Phe253Leu)
n.2558T>A
n.2569T>A

Number of alleles fetched