Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.53645795A>CCA395914450RPGRIP1Lc.2513T>G (p.Phe838Cys)
n.2937T>G
c.2525T>G (p.Phe842Cys)
c.758T>G (p.Phe253Cys)
n.2557T>G
n.2568T>G
 gnomAD v4
16g.53645795A>GCA395914451RPGRIP1Lc.2513T>C (p.Phe838Ser)
n.2937T>C
c.2525T>C (p.Phe842Ser)
c.758T>C (p.Phe253Ser)
n.2557T>C
n.2568T>C
 gnomAD v4
16g.53645795A>TCA395914452RPGRIP1Lc.2513T>A (p.Phe838Tyr)
n.2937T>A
c.2525T>A (p.Phe842Tyr)
c.758T>A (p.Phe253Tyr)
n.2557T>A
n.2568T>A
 gnomAD v4
16g.53645796A>CCA395914453RPGRIP1Lc.2512T>G (p.Phe838Val)
n.2936T>G
c.2524T>G (p.Phe842Val)
c.757T>G (p.Phe253Val)
n.2556T>G
n.2567T>G
16g.53645796A>GCA395914454RPGRIP1Lc.2512T>C (p.Phe838Leu)
n.2936T>C
c.2524T>C (p.Phe842Leu)
c.757T>C (p.Phe253Leu)
n.2556T>C
n.2567T>C
16g.53645796A>TCA395914455RPGRIP1Lc.2512T>A (p.Phe838Ile)
n.2936T>A
c.2524T>A (p.Phe842Ile)
c.757T>A (p.Phe253Ile)
n.2556T>A
n.2567T>A
16g.53645797C>ACA395914456RPGRIP1Lc.2511G>T (p.Gln837His)
n.2935G>T
c.2523G>T (p.Gln841His)
c.756G>T (p.Gln252His)
n.2555G>T
n.2566G>T
16g.53645797C>GCA395914457RPGRIP1Lc.2511G>C (p.Gln837His)
n.2935G>C
c.2523G>C (p.Gln841His)
c.756G>C (p.Gln252His)
n.2555G>C
n.2566G>C
16g.53645797C>TCA495784570RPGRIP1Lc.2511G>A (p.Gln837=)
n.2935G>A
c.2523G>A (p.Gln841=)
c.756G>A (p.Gln252=)
n.2555G>A
n.2566G>A
 gnomAD v4
16g.53645798T>ACA395914458RPGRIP1Lc.2510A>T (p.Gln837Leu)
n.2934A>T
c.2522A>T (p.Gln841Leu)
c.755A>T (p.Gln252Leu)
n.2554A>T
n.2565A>T
16g.53645798T>CCA395914459RPGRIP1Lc.2510A>G (p.Gln837Arg)
n.2934A>G
c.2522A>G (p.Gln841Arg)
c.755A>G (p.Gln252Arg)
n.2554A>G
n.2565A>G
16g.53645798T>GCA395914460RPGRIP1Lc.2510A>C (p.Gln837Pro)
n.2934A>C
c.2522A>C (p.Gln841Pro)
c.755A>C (p.Gln252Pro)
n.2554A>C
n.2565A>C
16g.53645800_53645801delCA2633237735RPGRIP1Lc.2509_2510del (p.Gln837ValfsTer2)
n.2933_2934del
c.2521_2522del (p.Gln841ValfsTer2)
c.754_755del (p.Gln252ValfsTer2)
n.2553_2554del
n.2564_2565del
 gnomAD v4
16g.53645799G>ACA395914462RPGRIP1Lc.2509C>T (p.Gln837Ter)
n.2933C>T
c.2521C>T (p.Gln841Ter)
c.754C>T (p.Gln252Ter)
n.2553C>T
n.2564C>T
16g.53645799G>CCA395914463RPGRIP1Lc.2509C>G (p.Gln837Glu)
n.2933C>G
c.2521C>G (p.Gln841Glu)
c.754C>G (p.Gln252Glu)
n.2553C>G
n.2564C>G
16g.53645799G>TCA395914461RPGRIP1Lc.2509C>A (p.Gln837Lys)
n.2933C>A
c.2521C>A (p.Gln841Lys)
c.754C>A (p.Gln252Lys)
n.2553C>A
n.2564C>A
16g.53645800T>ACA495784573RPGRIP1Lc.2508A>T (p.Pro836=)
n.2932A>T
c.2520A>T (p.Pro840=)
c.753A>T (p.Pro251=)
n.2552A>T
n.2563A>T
 ClinVar dbSNP
16g.53645800T>CCA8057532RPGRIP1Lc.2508A>G (p.Pro836=)
n.2932A>G
c.2520A>G (p.Pro840=)
c.753A>G (p.Pro251=)
n.2552A>G
n.2563A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.53645800T>GCA495784572RPGRIP1Lc.2508A>C (p.Pro836=)
n.2932A>C
c.2520A>C (p.Pro840=)
c.753A>C (p.Pro251=)
n.2552A>C
n.2563A>C
16g.53645800T=CA2223254258RPGRIP1Lc.2508A= (p.Pro836=)
n.2932A=
c.2520A= (p.Pro840=)
c.753A= (p.Pro251=)
n.2552A=
n.2563A=
16g.53645801G>ACA395914466RPGRIP1Lc.2507C>T (p.Pro836Leu)
n.2931C>T
c.2519C>T (p.Pro840Leu)
c.752C>T (p.Pro251Leu)
n.2551C>T
n.2562C>T
16g.53645801G>CCA395914464RPGRIP1Lc.2507C>G (p.Pro836Arg)
n.2931C>G
c.2519C>G (p.Pro840Arg)
c.752C>G (p.Pro251Arg)
n.2551C>G
n.2562C>G
16g.53645801G>TCA395914465RPGRIP1Lc.2507C>A (p.Pro836Gln)
n.2931C>A
c.2519C>A (p.Pro840Gln)
c.752C>A (p.Pro251Gln)
n.2551C>A
n.2562C>A
16g.53645802G>ACA395914467RPGRIP1Lc.2506C>T (p.Pro836Ser)
n.2930C>T
c.2518C>T (p.Pro840Ser)
c.751C>T (p.Pro251Ser)
n.2550C>T
n.2561C>T
 dbSNP gnomAD v3 gnomAD v4
16g.53645802G>CCA395914468RPGRIP1Lc.2506C>G (p.Pro836Ala)
n.2930C>G
c.2518C>G (p.Pro840Ala)
c.751C>G (p.Pro251Ala)
n.2550C>G
n.2561C>G
16g.53645802G=CA2223254261RPGRIP1Lc.2506C= (p.Pro836=)
n.2930C=
c.2518C= (p.Pro840=)
c.751C= (p.Pro251=)
n.2550C=
n.2561C=
16g.53645802G>TCA395914469RPGRIP1Lc.2506C>A (p.Pro836Thr)
n.2930C>A
c.2518C>A (p.Pro840Thr)
c.751C>A (p.Pro251Thr)
n.2550C>A
n.2561C>A
16g.53645803A>CCA395914470RPGRIP1Lc.2505T>G (p.Asp835Glu)
n.2929T>G
c.2517T>G (p.Asp839Glu)
c.750T>G (p.Asp250Glu)
n.2549T>G
n.2560T>G
16g.53645803A>GCA495784575RPGRIP1Lc.2505T>C (p.Asp835=)
n.2929T>C
c.2517T>C (p.Asp839=)
c.750T>C (p.Asp250=)
n.2549T>C
n.2560T>C
16g.53645803A>TCA395914471RPGRIP1Lc.2505T>A (p.Asp835Glu)
n.2929T>A
c.2517T>A (p.Asp839Glu)
c.750T>A (p.Asp250Glu)
n.2549T>A
n.2560T>A
16g.53645804T>ACA395914472RPGRIP1Lc.2504A>T (p.Asp835Val)
n.2928A>T
c.2516A>T (p.Asp839Val)
c.749A>T (p.Asp250Val)
n.2548A>T
n.2559A>T
16g.53645804T>CCA395914473RPGRIP1Lc.2504A>G (p.Asp835Gly)
n.2928A>G
c.2516A>G (p.Asp839Gly)
c.749A>G (p.Asp250Gly)
n.2548A>G
n.2559A>G
 gnomAD v4
16g.53645804T>GCA395914474RPGRIP1Lc.2504A>C (p.Asp835Ala)
n.2928A>C
c.2516A>C (p.Asp839Ala)
c.749A>C (p.Asp250Ala)
n.2548A>C
n.2559A>C
16g.53645805C>ACA395914475RPGRIP1Lc.2503G>T (p.Asp835Tyr)
n.2927G>T
c.2515G>T (p.Asp839Tyr)
c.748G>T (p.Asp250Tyr)
n.2547G>T
n.2558G>T
16g.53645805C>GCA395914476RPGRIP1Lc.2503G>C (p.Asp835His)
n.2927G>C
c.2515G>C (p.Asp839His)
c.748G>C (p.Asp250His)
n.2547G>C
n.2558G>C
16g.53645805C>TCA395914477RPGRIP1Lc.2503G>A (p.Asp835Asn)
n.2927G>A
c.2515G>A (p.Asp839Asn)
c.748G>A (p.Asp250Asn)
n.2547G>A
n.2558G>A
16g.53645806A>CCA395914478RPGRIP1Lc.2502T>G (p.Asn834Lys)
n.2926T>G
c.2514T>G (p.Asn838Lys)
c.747T>G (p.Asn249Lys)
n.2546T>G
n.2557T>G
16g.53645806A>GCA495784578RPGRIP1Lc.2502T>C (p.Asn834=)
n.2926T>C
c.2514T>C (p.Asn838=)
c.747T>C (p.Asn249=)
n.2546T>C
n.2557T>C
16g.53645806A>TCA395914479RPGRIP1Lc.2502T>A (p.Asn834Lys)
n.2926T>A
c.2514T>A (p.Asn838Lys)
c.747T>A (p.Asn249Lys)
n.2546T>A
n.2557T>A
16g.53645807T>ACA395914480RPGRIP1Lc.2501A>T (p.Asn834Ile)
n.2925A>T
c.2513A>T (p.Asn838Ile)
c.746A>T (p.Asn249Ile)
n.2545A>T
n.2556A>T
16g.53645807T>CCA395914481RPGRIP1Lc.2501A>G (p.Asn834Ser)
n.2925A>G
c.2513A>G (p.Asn838Ser)
c.746A>G (p.Asn249Ser)
n.2545A>G
n.2556A>G
 gnomAD v4
16g.53645807T>GCA395914482RPGRIP1Lc.2501A>C (p.Asn834Thr)
n.2925A>C
c.2513A>C (p.Asn838Thr)
c.746A>C (p.Asn249Thr)
n.2545A>C
n.2556A>C
16g.53645808delCA2633237738RPGRIP1Lc.2501del (p.Asn834MetfsTer15)
n.2925del
c.2513del (p.Asn838MetfsTer15)
c.746del (p.Asn249MetfsTer15)
n.2545del
n.2556del
 gnomAD v4
16g.53645808T>ACA395914483RPGRIP1Lc.2500A>T (p.Asn834Tyr)
n.2924A>T
c.2512A>T (p.Asn838Tyr)
c.745A>T (p.Asn249Tyr)
n.2544A>T
n.2555A>T
 dbSNP gnomAD v3 gnomAD v4
16g.53645808T>CCA395914484RPGRIP1Lc.2500A>G (p.Asn834Asp)
n.2924A>G
c.2512A>G (p.Asn838Asp)
c.745A>G (p.Asn249Asp)
n.2544A>G
n.2555A>G
16g.53645808T>GCA395914485RPGRIP1Lc.2500A>C (p.Asn834His)
n.2924A>C
c.2512A>C (p.Asn838His)
c.745A>C (p.Asn249His)
n.2544A>C
n.2555A>C
16g.53645809G>ACA495784580RPGRIP1Lc.2499C>T (p.Ser833=)
n.2923C>T
c.2511C>T (p.Ser837=)
c.744C>T (p.Ser248=)
n.2543C>T
n.2554C>T
16g.53645809G>CCA395914486RPGRIP1Lc.2499C>G (p.Ser833Arg)
n.2923C>G
c.2511C>G (p.Ser837Arg)
c.744C>G (p.Ser248Arg)
n.2543C>G
n.2554C>G
16g.53645809G>TCA395914487RPGRIP1Lc.2499C>A (p.Ser833Arg)
n.2923C>A
c.2511C>A (p.Ser837Arg)
c.744C>A (p.Ser248Arg)
n.2543C>A
n.2554C>A
16g.53645810C>ACA281339227RPGRIP1Lc.2498G>T (p.Ser833Ile)
n.2922G>T
c.2510G>T (p.Ser837Ile)
c.743G>T (p.Ser248Ile)
n.2542G>T
n.2553G>T
 dbSNP
16g.53645810C=CA2223254265RPGRIP1Lc.2498G= (p.Ser833=)
n.2922G=
c.2510G= (p.Ser837=)
c.743G= (p.Ser248=)
n.2542G=
n.2553G=
16g.53645810C>GCA395914488RPGRIP1Lc.2498G>C (p.Ser833Thr)
n.2922G>C
c.2510G>C (p.Ser837Thr)
c.743G>C (p.Ser248Thr)
n.2542G>C
n.2553G>C
16g.53645810C>TCA395914489RPGRIP1Lc.2498G>A (p.Ser833Asn)
n.2922G>A
c.2510G>A (p.Ser837Asn)
c.743G>A (p.Ser248Asn)
n.2542G>A
n.2553G>A
16g.53645811T>ACA395914491RPGRIP1Lc.2497A>T (p.Ser833Cys)
n.2921A>T
c.2509A>T (p.Ser837Cys)
c.742A>T (p.Ser248Cys)
n.2541A>T
n.2552A>T
16g.53645811T>CCA395914492RPGRIP1Lc.2497A>G (p.Ser833Gly)
n.2921A>G
c.2509A>G (p.Ser837Gly)
c.742A>G (p.Ser248Gly)
n.2541A>G
n.2552A>G
16g.53645811T>GCA395914490RPGRIP1Lc.2497A>C (p.Ser833Arg)
n.2921A>C
c.2509A>C (p.Ser837Arg)
c.742A>C (p.Ser248Arg)
n.2541A>C
n.2552A>C
16g.53645812A>CCA395914493RPGRIP1Lc.2496T>G (p.Ser832Arg)
n.2920T>G
c.2508T>G (p.Ser836Arg)
c.741T>G (p.Ser247Arg)
n.2540T>G
n.2551T>G
16g.53645812A>GCA495784583RPGRIP1Lc.2496T>C (p.Ser832=)
n.2920T>C
c.2508T>C (p.Ser836=)
c.741T>C (p.Ser247=)
n.2540T>C
n.2551T>C
 ClinVar dbSNP
16g.53645812A>TCA395914494RPGRIP1Lc.2496T>A (p.Ser832Arg)
n.2920T>A
c.2508T>A (p.Ser836Arg)
c.741T>A (p.Ser247Arg)
n.2540T>A
n.2551T>A
16g.53645813C>ACA395914495RPGRIP1Lc.2495G>T (p.Ser832Ile)
n.2919G>T
c.2507G>T (p.Ser836Ile)
c.740G>T (p.Ser247Ile)
n.2539G>T
n.2550G>T
16g.53645813C>GCA395914496RPGRIP1Lc.2495G>C (p.Ser832Thr)
n.2919G>C
c.2507G>C (p.Ser836Thr)
c.740G>C (p.Ser247Thr)
n.2539G>C
n.2550G>C
16g.53645813C>TCA395914497RPGRIP1Lc.2495G>A (p.Ser832Asn)
n.2919G>A
c.2507G>A (p.Ser836Asn)
c.740G>A (p.Ser247Asn)
n.2539G>A
n.2550G>A
16g.53645814T>ACA395914498RPGRIP1Lc.2494A>T (p.Ser832Cys)
n.2918A>T
c.2506A>T (p.Ser836Cys)
c.739A>T (p.Ser247Cys)
n.2538A>T
n.2549A>T
16g.53645814T>CCA395914499RPGRIP1Lc.2494A>G (p.Ser832Gly)
n.2918A>G
c.2506A>G (p.Ser836Gly)
c.739A>G (p.Ser247Gly)
n.2538A>G
n.2549A>G
 gnomAD v4 COSMIC
16g.53645814T>GCA395914500RPGRIP1Lc.2494A>C (p.Ser832Arg)
n.2918A>C
c.2506A>C (p.Ser836Arg)
c.739A>C (p.Ser247Arg)
n.2538A>C
n.2549A>C
16g.53645814_53645815delinsTGCA2223254272RPGRIP1Lc.2493_2494delinsCA (p.Pro831=)
n.2917_2918delinsCA
c.2505_2506delinsCA (p.Pro835=)
c.738_739delinsCA (p.Pro246=)
n.2537_2538delinsCA
n.2548_2549delinsCA
16g.53645815G>ACA495784585RPGRIP1Lc.2493C>T (p.Pro831=)
n.2917C>T
c.2505C>T (p.Pro835=)
c.738C>T (p.Pro246=)
n.2537C>T
n.2548C>T
 COSMIC
16g.53645815G>CCA495784587RPGRIP1Lc.2493C>G (p.Pro831=)
n.2917C>G
c.2505C>G (p.Pro835=)
c.738C>G (p.Pro246=)
n.2537C>G
n.2548C>G
16g.53645815G>TCA495784588RPGRIP1Lc.2493C>A (p.Pro831=)
n.2917C>A
c.2505C>A (p.Pro835=)
c.738C>A (p.Pro246=)
n.2537C>A
n.2548C>A
16g.53645817delCA8057533RPGRIP1Lc.2493del (p.Ser832ValfsTer17)
n.2917del
c.2505del (p.Ser836ValfsTer17)
c.738del (p.Ser247ValfsTer17)
n.2537del
n.2548del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.53645816G>ACA395914501RPGRIP1Lc.2492C>T (p.Pro831Leu)
n.2916C>T
c.2504C>T (p.Pro835Leu)
c.737C>T (p.Pro246Leu)
n.2536C>T
n.2547C>T
16g.53645816G>CCA395914502RPGRIP1Lc.2492C>G (p.Pro831Arg)
n.2916C>G
c.2504C>G (p.Pro835Arg)
c.737C>G (p.Pro246Arg)
n.2536C>G
n.2547C>G
 gnomAD v4
16g.53645816G>TCA395914503RPGRIP1Lc.2492C>A (p.Pro831His)
n.2916C>A
c.2504C>A (p.Pro835His)
c.737C>A (p.Pro246His)
n.2536C>A
n.2547C>A
16g.53645817G>ACA395914505RPGRIP1Lc.2491C>T (p.Pro831Ser)
n.2915C>T
c.2503C>T (p.Pro835Ser)
c.736C>T (p.Pro246Ser)
n.2535C>T
n.2546C>T
 gnomAD v4 COSMIC
16g.53645817G>CCA395914506RPGRIP1Lc.2491C>G (p.Pro831Ala)
n.2915C>G
c.2503C>G (p.Pro835Ala)
c.736C>G (p.Pro246Ala)
n.2535C>G
n.2546C>G
16g.53645817G>TCA395914504RPGRIP1Lc.2491C>A (p.Pro831Thr)
n.2915C>A
c.2503C>A (p.Pro835Thr)
c.736C>A (p.Pro246Thr)
n.2535C>A
n.2546C>A
16g.53645818A>CCA395914507RPGRIP1Lc.2490T>G (p.Ile830Met)
n.2914T>G
c.2502T>G (p.Ile834Met)
c.735T>G (p.Ile245Met)
n.2534T>G
n.2545T>G
16g.53645818A>GCA495784590RPGRIP1Lc.2490T>C (p.Ile830=)
n.2914T>C
c.2502T>C (p.Ile834=)
c.735T>C (p.Ile245=)
n.2534T>C
n.2545T>C
 ClinVar gnomAD v4
16g.53645818A>TCA495784591RPGRIP1Lc.2490T>A (p.Ile830=)
n.2914T>A
c.2502T>A (p.Ile834=)
c.735T>A (p.Ile245=)
n.2534T>A
n.2545T>A
16g.53645819A=CA2223254279RPGRIP1Lc.2489T= (p.Ile830=)
n.2913T=
c.2501T= (p.Ile834=)
c.734T= (p.Ile245=)
n.2533T=
n.2544T=
16g.53645819A>CCA395914508RPGRIP1Lc.2489T>G (p.Ile830Ser)
n.2913T>G
c.2501T>G (p.Ile834Ser)
c.734T>G (p.Ile245Ser)
n.2533T>G
n.2544T>G
16g.53645819A>GCA395914509RPGRIP1Lc.2489T>C (p.Ile830Thr)
n.2913T>C
c.2501T>C (p.Ile834Thr)
c.734T>C (p.Ile245Thr)
n.2533T>C
n.2544T>C
 ClinVar dbSNP
16g.53645819A>TCA395914510RPGRIP1Lc.2489T>A (p.Ile830Asn)
n.2913T>A
c.2501T>A (p.Ile834Asn)
c.734T>A (p.Ile245Asn)
n.2533T>A
n.2544T>A
16g.53645820T>ACA395914511RPGRIP1Lc.2488A>T (p.Ile830Phe)
n.2912A>T
c.2500A>T (p.Ile834Phe)
c.733A>T (p.Ile245Phe)
n.2532A>T
n.2543A>T
16g.53645820T>CCA395914512RPGRIP1Lc.2488A>G (p.Ile830Val)
n.2912A>G
c.2500A>G (p.Ile834Val)
c.733A>G (p.Ile245Val)
n.2532A>G
n.2543A>G
16g.53645820T>GCA395914513RPGRIP1Lc.2488A>C (p.Ile830Leu)
n.2912A>C
c.2500A>C (p.Ile834Leu)
c.733A>C (p.Ile245Leu)
n.2532A>C
n.2543A>C
16g.53645821G>ACA495784374RPGRIP1Lc.2487C>T (p.Ile829=)
n.2911C>T
c.2499C>T (p.Ile833=)
c.732C>T (p.Ile244=)
n.2531C>T
n.2542C>T
 ClinVar dbSNP
16g.53645821G>CCA395914514RPGRIP1Lc.2487C>G (p.Ile829Met)
n.2911C>G
c.2499C>G (p.Ile833Met)
c.732C>G (p.Ile244Met)
n.2531C>G
n.2542C>G
16g.53645821G>TCA495784375RPGRIP1Lc.2487C>A (p.Ile829=)
n.2911C>A
c.2499C>A (p.Ile833=)
c.732C>A (p.Ile244=)
n.2531C>A
n.2542C>A
16g.53645822A>CCA395914515RPGRIP1Lc.2486T>G (p.Ile829Ser)
n.2910T>G
c.2498T>G (p.Ile833Ser)
c.731T>G (p.Ile244Ser)
n.2530T>G
n.2541T>G
16g.53645822A>GCA395914516RPGRIP1Lc.2486T>C (p.Ile829Thr)
n.2910T>C
c.2498T>C (p.Ile833Thr)
c.731T>C (p.Ile244Thr)
n.2530T>C
n.2541T>C
16g.53645822A>TCA395914517RPGRIP1Lc.2486T>A (p.Ile829Asn)
n.2910T>A
c.2498T>A (p.Ile833Asn)
c.731T>A (p.Ile244Asn)
n.2530T>A
n.2541T>A
16g.53645823T>ACA395914518RPGRIP1Lc.2485A>T (p.Ile829Phe)
n.2909A>T
c.2497A>T (p.Ile833Phe)
c.730A>T (p.Ile244Phe)
n.2529A>T
n.2540A>T
16g.53645823T>CCA395914519RPGRIP1Lc.2485A>G (p.Ile829Val)
n.2909A>G
c.2497A>G (p.Ile833Val)
c.730A>G (p.Ile244Val)
n.2529A>G
n.2540A>G
 gnomAD v4
16g.53645823T>GCA395914520RPGRIP1Lc.2485A>C (p.Ile829Leu)
n.2909A>C
c.2497A>C (p.Ile833Leu)
c.730A>C (p.Ile244Leu)
n.2529A>C
n.2540A>C
16g.53645824A>CCA495784377RPGRIP1Lc.2484T>G (p.Ala828=)
n.2908T>G
c.2496T>G (p.Ala832=)
c.729T>G (p.Ala243=)
n.2528T>G
n.2539T>G
 ClinVar dbSNP
16g.53645824A>GCA495784378RPGRIP1Lc.2484T>C (p.Ala828=)
n.2908T>C
c.2496T>C (p.Ala832=)
c.729T>C (p.Ala243=)
n.2528T>C
n.2539T>C
16g.53645824A>TCA495784379RPGRIP1Lc.2484T>A (p.Ala828=)
n.2908T>A
c.2496T>A (p.Ala832=)
c.729T>A (p.Ala243=)
n.2528T>A
n.2539T>A
16g.53645825G>ACA395914522RPGRIP1Lc.2483C>T (p.Ala828Val)
n.2907C>T
c.2495C>T (p.Ala832Val)
c.728C>T (p.Ala243Val)
n.2527C>T
n.2538C>T
16g.53645825G>CCA395914521RPGRIP1Lc.2483C>G (p.Ala828Gly)
n.2907C>G
c.2495C>G (p.Ala832Gly)
c.728C>G (p.Ala243Gly)
n.2527C>G
n.2538C>G
 dbSNP
16g.53645825G=CA2223254286RPGRIP1Lc.2483C= (p.Ala828=)
n.2907C=
c.2495C= (p.Ala832=)
c.728C= (p.Ala243=)
n.2527C=
n.2538C=
16g.53645825G>TCA206247RPGRIP1Lc.2483C>A (p.Ala828Asp)
n.2907C>A
c.2495C>A (p.Ala832Asp)
c.728C>A (p.Ala243Asp)
n.2527C>A
n.2538C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.53645826C>ACA395914523RPGRIP1Lc.2482G>T (p.Ala828Ser)
n.2906G>T
c.2494G>T (p.Ala832Ser)
c.727G>T (p.Ala243Ser)
n.2526G>T
n.2537G>T
16g.53645826C=CA2223254292RPGRIP1Lc.2482G= (p.Ala828=)
n.2906G=
c.2494G= (p.Ala832=)
c.727G= (p.Ala243=)
n.2526G=
n.2537G=
16g.53645826C>GCA395914524RPGRIP1Lc.2482G>C (p.Ala828Pro)
n.2906G>C
c.2494G>C (p.Ala832Pro)
c.727G>C (p.Ala243Pro)
n.2526G>C
n.2537G>C
 dbSNP
16g.53645826C>TCA395914525RPGRIP1Lc.2482G>A (p.Ala828Thr)
n.2906G>A
c.2494G>A (p.Ala832Thr)
c.727G>A (p.Ala243Thr)
n.2526G>A
n.2537G>A
16g.53645827T>ACA495784381RPGRIP1Lc.2481A>T (p.Thr827=)
n.2905A>T
c.2493A>T (p.Thr831=)
c.726A>T (p.Thr242=)
n.2525A>T
n.2536A>T
16g.53645827T>CCA495784383RPGRIP1Lc.2481A>G (p.Thr827=)
n.2905A>G
c.2493A>G (p.Thr831=)
c.726A>G (p.Thr242=)
n.2525A>G
n.2536A>G
16g.53645827T>GCA495784384RPGRIP1Lc.2481A>C (p.Thr827=)
n.2905A>C
c.2493A>C (p.Thr831=)
c.726A>C (p.Thr242=)
n.2525A>C
n.2536A>C
 ClinVar gnomAD v4
16g.53645828G>ACA395914526RPGRIP1Lc.2480C>T (p.Thr827Ile)
n.2904C>T
c.2492C>T (p.Thr831Ile)
c.725C>T (p.Thr242Ile)
n.2524C>T
n.2535C>T
16g.53645828G>CCA395914527RPGRIP1Lc.2480C>G (p.Thr827Arg)
n.2904C>G
c.2492C>G (p.Thr831Arg)
c.725C>G (p.Thr242Arg)
n.2524C>G
n.2535C>G
 dbSNP
16g.53645828G=CA2223254295RPGRIP1Lc.2480C= (p.Thr827=)
n.2904C=
c.2492C= (p.Thr831=)
c.725C= (p.Thr242=)
n.2524C=
n.2535C=
16g.53645828G>TCA395914528RPGRIP1Lc.2480C>A (p.Thr827Lys)
n.2904C>A
c.2492C>A (p.Thr831Lys)
c.725C>A (p.Thr242Lys)
n.2524C>A
n.2535C>A
16g.53645829T>ACA395914531RPGRIP1Lc.2479A>T (p.Thr827Ser)
n.2903A>T
c.2491A>T (p.Thr831Ser)
c.724A>T (p.Thr242Ser)
n.2523A>T
n.2534A>T
16g.53645829T>CCA395914530RPGRIP1Lc.2479A>G (p.Thr827Ala)
n.2903A>G
c.2491A>G (p.Thr831Ala)
c.724A>G (p.Thr242Ala)
n.2523A>G
n.2534A>G
 gnomAD v4
16g.53645829T>GCA395914529RPGRIP1Lc.2479A>C (p.Thr827Pro)
n.2903A>C
c.2491A>C (p.Thr831Pro)
c.724A>C (p.Thr242Pro)
n.2523A>C
n.2534A>C
16g.53645830A>CCA395914532RPGRIP1Lc.2478T>G (p.Asp826Glu)
n.2902T>G
c.2490T>G (p.Asp830Glu)
c.723T>G (p.Asp241Glu)
n.2522T>G
n.2533T>G
16g.53645830A>GCA495784386RPGRIP1Lc.2478T>C (p.Asp826=)
n.2902T>C
c.2490T>C (p.Asp830=)
c.723T>C (p.Asp241=)
n.2522T>C
n.2533T>C
 gnomAD v4
16g.53645830A>TCA395914533RPGRIP1Lc.2478T>A (p.Asp826Glu)
n.2902T>A
c.2490T>A (p.Asp830Glu)
c.723T>A (p.Asp241Glu)
n.2522T>A
n.2533T>A
16g.53645830_53645840delinsATCATGGTCTGCA2223254297RPGRIP1Lc.2468_2478delinsCAGACCATGAT (p.Ala823=)
n.2892_2902delinsCAGACCATGAT
c.2480_2490delinsCAGACCATGAT (p.Ala827=)
c.713_723delinsCAGACCATGAT (p.Ala238=)
n.2512_2522delinsCAGACCATGAT
n.2523_2533delinsCAGACCATGAT
16g.53645831T>ACA395914534RPGRIP1Lc.2477A>T (p.Asp826Val)
n.2901A>T
c.2489A>T (p.Asp830Val)
c.722A>T (p.Asp241Val)
n.2521A>T
n.2532A>T
 gnomAD v4
16g.53645831T>CCA395914535RPGRIP1Lc.2477A>G (p.Asp826Gly)
n.2901A>G
c.2489A>G (p.Asp830Gly)
c.722A>G (p.Asp241Gly)
n.2521A>G
n.2532A>G
 gnomAD v4
16g.53645831T>GCA395914536RPGRIP1Lc.2477A>C (p.Asp826Ala)
n.2901A>C
c.2489A>C (p.Asp830Ala)
c.722A>C (p.Asp241Ala)
n.2521A>C
n.2532A>C
16g.53645831_53645840delCA8057534RPGRIP1Lc.2468_2477del (p.Ala823ValfsTer23)
n.2892_2901del
c.2480_2489del (p.Ala827ValfsTer23)
c.713_722del (p.Ala238ValfsTer23)
n.2512_2521del
n.2523_2532del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645832C>ACA395914538RPGRIP1Lc.2476G>T (p.Asp826Tyr)
n.2900G>T
c.2488G>T (p.Asp830Tyr)
c.721G>T (p.Asp241Tyr)
n.2520G>T
n.2531G>T
16g.53645832C=CA2223254304RPGRIP1Lc.2476G= (p.Asp826=)
n.2900G=
c.2488G= (p.Asp830=)
c.721G= (p.Asp241=)
n.2520G=
n.2531G=
16g.53645832C>GCA395914537RPGRIP1Lc.2476G>C (p.Asp826His)
n.2900G>C
c.2488G>C (p.Asp830His)
c.721G>C (p.Asp241His)
n.2520G>C
n.2531G>C
16g.53645832C>TCA8057535RPGRIP1Lc.2476G>A (p.Asp826Asn)
n.2900G>A
c.2488G>A (p.Asp830Asn)
c.721G>A (p.Asp241Asn)
n.2520G>A
n.2531G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645833A>CCA395914539RPGRIP1Lc.2475T>G (p.His825Gln)
n.2899T>G
c.2487T>G (p.His829Gln)
c.720T>G (p.His240Gln)
n.2519T>G
n.2530T>G
16g.53645833A>GCA495784389RPGRIP1Lc.2475T>C (p.His825=)
n.2899T>C
c.2487T>C (p.His829=)
c.720T>C (p.His240=)
n.2519T>C
n.2530T>C
16g.53645833A>TCA395914540RPGRIP1Lc.2475T>A (p.His825Gln)
n.2899T>A
c.2487T>A (p.His829Gln)
c.720T>A (p.His240Gln)
n.2519T>A
n.2530T>A
16g.53645834T>ACA395914541RPGRIP1Lc.2474A>T (p.His825Leu)
n.2898A>T
c.2486A>T (p.His829Leu)
c.719A>T (p.His240Leu)
n.2518A>T
n.2529A>T
16g.53645834T>CCA8057536RPGRIP1Lc.2474A>G (p.His825Arg)
n.2898A>G
c.2486A>G (p.His829Arg)
c.719A>G (p.His240Arg)
n.2518A>G
n.2529A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645834T>GCA395914542RPGRIP1Lc.2474A>C (p.His825Pro)
n.2898A>C
c.2486A>C (p.His829Pro)
c.719A>C (p.His240Pro)
n.2518A>C
n.2529A>C
16g.53645834T=CA2223254316RPGRIP1Lc.2474A= (p.His825=)
n.2898A=
c.2486A= (p.His829=)
c.719A= (p.His240=)
n.2518A=
n.2529A=
16g.53645835G>ACA395914543RPGRIP1Lc.2473C>T (p.His825Tyr)
n.2897C>T
c.2485C>T (p.His829Tyr)
c.718C>T (p.His240Tyr)
n.2517C>T
n.2528C>T
16g.53645835G>CCA395914544RPGRIP1Lc.2473C>G (p.His825Asp)
n.2897C>G
c.2485C>G (p.His829Asp)
c.718C>G (p.His240Asp)
n.2517C>G
n.2528C>G
16g.53645835G>TCA395914545RPGRIP1Lc.2473C>A (p.His825Asn)
n.2897C>A
c.2485C>A (p.His829Asn)
c.718C>A (p.His240Asn)
n.2517C>A
n.2528C>A
16g.53645836dupCA2633237742RPGRIP1Lc.2473dup (p.His825ProfsTer2)
n.2897dup
c.2485dup (p.His829ProfsTer2)
c.718dup (p.His240ProfsTer2)
n.2517dup
n.2528dup
 gnomAD v4
16g.53645836G>ACA495784391RPGRIP1Lc.2472C>T (p.Asp824=)
n.2896C>T
c.2484C>T (p.Asp828=)
c.717C>T (p.Asp239=)
n.2516C>T
n.2527C>T
 dbSNP gnomAD v3 gnomAD v4
16g.53645836G>CCA395914546RPGRIP1Lc.2472C>G (p.Asp824Glu)
n.2896C>G
c.2484C>G (p.Asp828Glu)
c.717C>G (p.Asp239Glu)
n.2516C>G
n.2527C>G
16g.53645836G>TCA395914547RPGRIP1Lc.2472C>A (p.Asp824Glu)
n.2896C>A
c.2484C>A (p.Asp828Glu)
c.717C>A (p.Asp239Glu)
n.2516C>A
n.2527C>A
16g.53645837delCA2633237743RPGRIP1Lc.2471del (p.Asp824AlafsTer25)
n.2895del
c.2483del (p.Asp828AlafsTer25)
c.716del (p.Asp239AlafsTer25)
n.2515del
n.2526del
 gnomAD v4
16g.53645837T>ACA395914548RPGRIP1Lc.2471A>T (p.Asp824Val)
n.2895A>T
c.2483A>T (p.Asp828Val)
c.716A>T (p.Asp239Val)
n.2515A>T
n.2526A>T
16g.53645837T>CCA395914549RPGRIP1Lc.2471A>G (p.Asp824Gly)
n.2895A>G
c.2483A>G (p.Asp828Gly)
c.716A>G (p.Asp239Gly)
n.2515A>G
n.2526A>G
 gnomAD v4
16g.53645837T>GCA395914550RPGRIP1Lc.2471A>C (p.Asp824Ala)
n.2895A>C
c.2483A>C (p.Asp828Ala)
c.716A>C (p.Asp239Ala)
n.2515A>C
n.2526A>C
16g.53645838C>ACA395914551RPGRIP1Lc.2470G>T (p.Asp824Tyr)
n.2894G>T
c.2482G>T (p.Asp828Tyr)
c.715G>T (p.Asp239Tyr)
n.2514G>T
n.2525G>T
16g.53645838C>GCA395914553RPGRIP1Lc.2470G>C (p.Asp824His)
n.2894G>C
c.2482G>C (p.Asp828His)
c.715G>C (p.Asp239His)
n.2514G>C
n.2525G>C
16g.53645838C>TCA395914552RPGRIP1Lc.2470G>A (p.Asp824Asn)
n.2894G>A
c.2482G>A (p.Asp828Asn)
c.715G>A (p.Asp239Asn)
n.2514G>A
n.2525G>A
 gnomAD v4
16g.53645839T>ACA495784392RPGRIP1Lc.2469A>T (p.Ala823=)
n.2893A>T
c.2481A>T (p.Ala827=)
c.714A>T (p.Ala238=)
n.2513A>T
n.2524A>T
16g.53645839T>CCA495784393RPGRIP1Lc.2469A>G (p.Ala823=)
n.2893A>G
c.2481A>G (p.Ala827=)
c.714A>G (p.Ala238=)
n.2513A>G
n.2524A>G
16g.53645839T>GCA495784394RPGRIP1Lc.2469A>C (p.Ala823=)
n.2893A>C
c.2481A>C (p.Ala827=)
c.714A>C (p.Ala238=)
n.2513A>C
n.2524A>C
16g.53645840G>ACA281339274RPGRIP1Lc.2468C>T (p.Ala823Val)
n.2892C>T
c.2480C>T (p.Ala827Val)
c.713C>T (p.Ala238Val)
n.2512C>T
n.2523C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.53645840G>CCA395914554RPGRIP1Lc.2468C>G (p.Ala823Gly)
n.2892C>G
c.2480C>G (p.Ala827Gly)
c.713C>G (p.Ala238Gly)
n.2512C>G
n.2523C>G
16g.53645840G=CA2223254325RPGRIP1Lc.2468C= (p.Ala823=)
n.2892C=
c.2480C= (p.Ala827=)
c.713C= (p.Ala238=)
n.2512C=
n.2523C=
16g.53645840G>TCA395914555RPGRIP1Lc.2468C>A (p.Ala823Glu)
n.2892C>A
c.2480C>A (p.Ala827Glu)
c.713C>A (p.Ala238Glu)
n.2512C>A
n.2523C>A
 COSMIC
16g.53645840_53645841delinsAACA2573054237RPGRIP1Lc.2467_2468delinsTT (p.Ala823Leu)
n.2891_2892delinsTT
c.2479_2480delinsTT (p.Ala827Leu)
c.712_713delinsTT (p.Ala238Leu)
n.2511_2512delinsTT
n.2522_2523delinsTT
 ClinVar dbSNP
16g.53645841C>ACA281339285RPGRIP1Lc.2467G>T (p.Ala823Ser)
n.2891G>T
c.2479G>T (p.Ala827Ser)
c.712G>T (p.Ala238Ser)
n.2511G>T
n.2522G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.53645841C=CA2223254328RPGRIP1Lc.2467G= (p.Ala823=)
n.2891G=
c.2479G= (p.Ala827=)
c.712G= (p.Ala238=)
n.2511G=
n.2522G=
16g.53645841C>GCA395914556RPGRIP1Lc.2467G>C (p.Ala823Pro)
n.2891G>C
c.2479G>C (p.Ala827Pro)
c.712G>C (p.Ala238Pro)
n.2511G>C
n.2522G>C
16g.53645841C>TCA395914557RPGRIP1Lc.2467G>A (p.Ala823Thr)
n.2891G>A
c.2479G>A (p.Ala827Thr)
c.712G>A (p.Ala238Thr)
n.2511G>A
n.2522G>A
 ClinVar dbSNP
16g.53645841_53645842delinsCACA2223254334RPGRIP1Lc.2466_2467delinsTG (p.Phe822=)
n.2890_2891delinsTG
c.2478_2479delinsTG (p.Phe826=)
c.711_712delinsTG (p.Phe237=)
n.2510_2511delinsTG
n.2521_2522delinsTG
16g.53645842A>CCA395914558RPGRIP1Lc.2466T>G (p.Phe822Leu)
n.2890T>G
c.2478T>G (p.Phe826Leu)
c.711T>G (p.Phe237Leu)
n.2510T>G
n.2521T>G
16g.53645842A>GCA495784397RPGRIP1Lc.2466T>C (p.Phe822=)
n.2890T>C
c.2478T>C (p.Phe826=)
c.711T>C (p.Phe237=)
n.2510T>C
n.2521T>C
 gnomAD v4
16g.53645842A>TCA395914559RPGRIP1Lc.2466T>A (p.Phe822Leu)
n.2890T>A
c.2478T>A (p.Phe826Leu)
c.711T>A (p.Phe237Leu)
n.2510T>A
n.2521T>A
16g.53645845delCA916083492RPGRIP1Lc.2466del (p.Phe822LeufsTer27)
n.2890del
c.2478del (p.Phe826LeufsTer27)
c.711del (p.Phe237LeufsTer27)
n.2510del
n.2521del
 ClinVar dbSNP
16g.53645843A=CA2223254344RPGRIP1Lc.2465T= (p.Phe822=)
n.2889T=
c.2477T= (p.Phe826=)
c.710T= (p.Phe237=)
n.2509T=
n.2520T=
16g.53645843A>CCA395914560RPGRIP1Lc.2465T>G (p.Phe822Cys)
n.2889T>G
c.2477T>G (p.Phe826Cys)
c.710T>G (p.Phe237Cys)
n.2509T>G
n.2520T>G
16g.53645843A>GCA395914561RPGRIP1Lc.2465T>C (p.Phe822Ser)
n.2889T>C
c.2477T>C (p.Phe826Ser)
c.710T>C (p.Phe237Ser)
n.2509T>C
n.2520T>C
 ClinVar dbSNP
16g.53645843A>TCA395914562RPGRIP1Lc.2465T>A (p.Phe822Tyr)
n.2889T>A
c.2477T>A (p.Phe826Tyr)
c.710T>A (p.Phe237Tyr)
n.2509T>A
n.2520T>A
16g.53645844A=CA2223254349RPGRIP1Lc.2464T= (p.Phe822=)
n.2888T=
c.2476T= (p.Phe826=)
c.709T= (p.Phe237=)
n.2508T=
n.2519T=
16g.53645844A>CCA281339295RPGRIP1Lc.2464T>G (p.Phe822Val)
n.2888T>G
c.2476T>G (p.Phe826Val)
c.709T>G (p.Phe237Val)
n.2508T>G
n.2519T>G
 dbSNP gnomAD v4
16g.53645844A>GCA395914563RPGRIP1Lc.2464T>C (p.Phe822Leu)
n.2888T>C
c.2476T>C (p.Phe826Leu)
c.709T>C (p.Phe237Leu)
n.2508T>C
n.2519T>C
16g.53645844A>TCA395914564RPGRIP1Lc.2464T>A (p.Phe822Ile)
n.2888T>A
c.2476T>A (p.Phe826Ile)
c.709T>A (p.Phe237Ile)
n.2508T>A
n.2519T>A
16g.53645845A>CCA395914565RPGRIP1Lc.2463T>G (p.Asp821Glu)
n.2887T>G
c.2475T>G (p.Asp825Glu)
c.708T>G (p.Asp236Glu)
n.2507T>G
n.2518T>G
16g.53645845A>GCA495784399RPGRIP1Lc.2463T>C (p.Asp821=)
n.2887T>C
c.2475T>C (p.Asp825=)
c.708T>C (p.Asp236=)
n.2507T>C
n.2518T>C
16g.53645845A>TCA395914566RPGRIP1Lc.2463T>A (p.Asp821Glu)
n.2887T>A
c.2475T>A (p.Asp825Glu)
c.708T>A (p.Asp236Glu)
n.2507T>A
n.2518T>A
16g.53645846T>ACA395914567RPGRIP1Lc.2462A>T (p.Asp821Val)
n.2886A>T
c.2474A>T (p.Asp825Val)
c.707A>T (p.Asp236Val)
n.2506A>T
n.2517A>T
16g.53645846T>CCA8057537RPGRIP1Lc.2462A>G (p.Asp821Gly)
n.2886A>G
c.2474A>G (p.Asp825Gly)
c.707A>G (p.Asp236Gly)
n.2506A>G
n.2517A>G
 dbSNP ExAC gnomAD v2
16g.53645846T>GCA395914568RPGRIP1Lc.2462A>C (p.Asp821Ala)
n.2886A>C
c.2474A>C (p.Asp825Ala)
c.707A>C (p.Asp236Ala)
n.2506A>C
n.2517A>C
16g.53645846T=CA2223254355RPGRIP1Lc.2462A= (p.Asp821=)
n.2886A=
c.2474A= (p.Asp825=)
c.707A= (p.Asp236=)
n.2506A=
n.2517A=
16g.53645847C>ACA281339317RPGRIP1Lc.2461G>T (p.Asp821Tyr)
n.2885G>T
c.2473G>T (p.Asp825Tyr)
c.706G>T (p.Asp236Tyr)
n.2505G>T
n.2516G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.53645847C=CA2223254362RPGRIP1Lc.2461G= (p.Asp821=)
n.2885G=
c.2473G= (p.Asp825=)
c.706G= (p.Asp236=)
n.2505G=
n.2516G=
16g.53645847C>GCA395914569RPGRIP1Lc.2461G>C (p.Asp821His)
n.2885G>C
c.2473G>C (p.Asp825His)
c.706G>C (p.Asp236His)
n.2505G>C
n.2516G>C
16g.53645847C>TCA395914570RPGRIP1Lc.2461G>A (p.Asp821Asn)
n.2885G>A
c.2473G>A (p.Asp825Asn)
c.706G>A (p.Asp236Asn)
n.2505G>A
n.2516G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.53645848A=CA2223254368RPGRIP1Lc.2460T= (p.Phe820=)
n.2884T=
c.2472T= (p.Phe824=)
c.705T= (p.Phe235=)
n.2504T=
n.2515T=
16g.53645848A>CCA395914571RPGRIP1Lc.2460T>G (p.Phe820Leu)
n.2884T>G
c.2472T>G (p.Phe824Leu)
c.705T>G (p.Phe235Leu)
n.2504T>G
n.2515T>G
16g.53645848A>GCA8057538RPGRIP1Lc.2460T>C (p.Phe820=)
n.2884T>C
c.2472T>C (p.Phe824=)
c.705T>C (p.Phe235=)
n.2504T>C
n.2515T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.53645848A>TCA395914572RPGRIP1Lc.2460T>A (p.Phe820Leu)
n.2884T>A
c.2472T>A (p.Phe824Leu)
c.705T>A (p.Phe235Leu)
n.2504T>A
n.2515T>A
16g.53645853dupCA645598417RPGRIP1Lc.2460dup (p.Asp821Ter)
n.2884dup
c.2472dup (p.Asp825Ter)
c.705dup (p.Asp236Ter)
n.2504dup
n.2515dup
 COSMIC
16g.53645853delCA495784400RPGRIP1Lc.2460del (p.Phe820LeufsTer29)
n.2884del
c.2472del (p.Phe824LeufsTer29)
c.705del (p.Phe235LeufsTer29)
n.2504del
n.2515del
16g.53645848_53645849insTCA495784401RPGRIP1Lc.2459_2460insA (p.Phe820LeufsTer2)
n.2883_2884insA
c.2471_2472insA (p.Phe824LeufsTer2)
c.704_705insA (p.Phe235LeufsTer2)
n.2503_2504insA
n.2514_2515insA
16g.53645849A>CCA395914573RPGRIP1Lc.2459T>G (p.Phe820Cys)
n.2883T>G
c.2471T>G (p.Phe824Cys)
c.704T>G (p.Phe235Cys)
n.2503T>G
n.2514T>G
16g.53645849A>GCA395914574RPGRIP1Lc.2459T>C (p.Phe820Ser)
n.2883T>C
c.2471T>C (p.Phe824Ser)
c.704T>C (p.Phe235Ser)
n.2503T>C
n.2514T>C
16g.53645849A>TCA395914575RPGRIP1Lc.2459T>A (p.Phe820Tyr)
n.2883T>A
c.2471T>A (p.Phe824Tyr)
c.704T>A (p.Phe235Tyr)
n.2503T>A
n.2514T>A
16g.53645850A>CCA395914578RPGRIP1Lc.2458T>G (p.Phe820Val)
n.2882T>G
c.2470T>G (p.Phe824Val)
c.703T>G (p.Phe235Val)
n.2502T>G
n.2513T>G
16g.53645850A>GCA395914576RPGRIP1Lc.2458T>C (p.Phe820Leu)
n.2882T>C
c.2470T>C (p.Phe824Leu)
c.703T>C (p.Phe235Leu)
n.2502T>C
n.2513T>C
16g.53645850A>TCA395914577RPGRIP1Lc.2458T>A (p.Phe820Ile)
n.2882T>A
c.2470T>A (p.Phe824Ile)
c.703T>A (p.Phe235Ile)
n.2502T>A
n.2513T>A
16g.53645851A>CCA395914579RPGRIP1Lc.2457T>G (p.Phe819Leu)
n.2881T>G
c.2469T>G (p.Phe823Leu)
c.702T>G (p.Phe234Leu)
n.2501T>G
n.2512T>G
16g.53645851A>GCA495784403RPGRIP1Lc.2457T>C (p.Phe819=)
n.2881T>C
c.2469T>C (p.Phe823=)
c.702T>C (p.Phe234=)
n.2501T>C
n.2512T>C
16g.53645851A>TCA395914580RPGRIP1Lc.2457T>A (p.Phe819Leu)
n.2881T>A
c.2469T>A (p.Phe823Leu)
c.702T>A (p.Phe234Leu)
n.2501T>A
n.2512T>A
16g.53645852A>CCA395914581RPGRIP1Lc.2456T>G (p.Phe819Cys)
n.2880T>G
c.2468T>G (p.Phe823Cys)
c.701T>G (p.Phe234Cys)
n.2500T>G
n.2511T>G
16g.53645852A>GCA395914582RPGRIP1Lc.2456T>C (p.Phe819Ser)
n.2880T>C
c.2468T>C (p.Phe823Ser)
c.701T>C (p.Phe234Ser)
n.2500T>C
n.2511T>C
16g.53645852A>TCA395914583RPGRIP1Lc.2456T>A (p.Phe819Tyr)
n.2880T>A
c.2468T>A (p.Phe823Tyr)
c.701T>A (p.Phe234Tyr)
n.2500T>A
n.2511T>A
16g.53645853A>CCA395914586RPGRIP1Lc.2455T>G (p.Phe819Val)
n.2879T>G
c.2467T>G (p.Phe823Val)
c.700T>G (p.Phe234Val)
n.2499T>G
n.2510T>G
16g.53645853A>GCA395914585RPGRIP1Lc.2455T>C (p.Phe819Leu)
n.2879T>C
c.2467T>C (p.Phe823Leu)
c.700T>C (p.Phe234Leu)
n.2499T>C
n.2510T>C
16g.53645853A>TCA395914584RPGRIP1Lc.2455T>A (p.Phe819Ile)
n.2879T>A
c.2467T>A (p.Phe823Ile)
c.700T>A (p.Phe234Ile)
n.2499T>A
n.2510T>A
16g.53645854C>ACA395914587RPGRIP1Lc.2454G>T (p.Lys818Asn)
n.2878G>T
c.2466G>T (p.Lys822Asn)
c.699G>T (p.Lys233Asn)
n.2498G>T
n.2509G>T
16g.53645854C=CA2223254374RPGRIP1Lc.2454G= (p.Lys818=)
n.2878G=
c.2466G= (p.Lys822=)
c.699G= (p.Lys233=)
n.2498G=
n.2509G=
16g.53645854C>GCA395914588RPGRIP1Lc.2454G>C (p.Lys818Asn)
n.2878G>C
c.2466G>C (p.Lys822Asn)
c.699G>C (p.Lys233Asn)
n.2498G>C
n.2509G>C
 gnomAD v4
16g.53645854C>TCA8057539RPGRIP1Lc.2454G>A (p.Lys818=)
n.2878G>A
c.2466G>A (p.Lys822=)
c.699G>A (p.Lys233=)
n.2498G>A
n.2509G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645855T>ACA395914589RPGRIP1Lc.2453A>T (p.Lys818Met)
n.2877A>T
c.2465A>T (p.Lys822Met)
c.698A>T (p.Lys233Met)
n.2497A>T
n.2508A>T
16g.53645855T>CCA395914590RPGRIP1Lc.2453A>G (p.Lys818Arg)
n.2877A>G
c.2465A>G (p.Lys822Arg)
c.698A>G (p.Lys233Arg)
n.2497A>G
n.2508A>G
16g.53645855T>GCA395914591RPGRIP1Lc.2453A>C (p.Lys818Thr)
n.2877A>C
c.2465A>C (p.Lys822Thr)
c.698A>C (p.Lys233Thr)
n.2497A>C
n.2508A>C
16g.53645856T>ACA395914593RPGRIP1Lc.2452A>T (p.Lys818Ter)
n.2876A>T
c.2464A>T (p.Lys822Ter)
c.697A>T (p.Lys233Ter)
n.2496A>T
n.2507A>T
16g.53645856T>CCA8057540RPGRIP1Lc.2452A>G (p.Lys818Glu)
n.2876A>G
c.2464A>G (p.Lys822Glu)
c.697A>G (p.Lys233Glu)
n.2496A>G
n.2507A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.53645856T>GCA395914592RPGRIP1Lc.2452A>C (p.Lys818Gln)
n.2876A>C
c.2464A>C (p.Lys822Gln)
c.697A>C (p.Lys233Gln)
n.2496A>C
n.2507A>C
16g.53645856T=CA2223254379RPGRIP1Lc.2452A= (p.Lys818=)
n.2876A=
c.2464A= (p.Lys822=)
c.697A= (p.Lys233=)
n.2496A=
n.2507A=
16g.53645857G>ACA8057541RPGRIP1Lc.2451C>T (p.Tyr817=)
n.2875C>T
c.2463C>T (p.Tyr821=)
c.696C>T (p.Tyr232=)
n.2495C>T
n.2506C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645857G>CCA281339352RPGRIP1Lc.2451C>G (p.Tyr817Ter)
n.2875C>G
c.2463C>G (p.Tyr821Ter)
c.696C>G (p.Tyr232Ter)
n.2495C>G
n.2506C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.53645857G=CA2223254385RPGRIP1Lc.2451C= (p.Tyr817=)
n.2875C=
c.2463C= (p.Tyr821=)
c.696C= (p.Tyr232=)
n.2495C=
n.2506C=
16g.53645857G>TCA395914594RPGRIP1Lc.2451C>A (p.Tyr817Ter)
n.2875C>A
c.2463C>A (p.Tyr821Ter)
c.696C>A (p.Tyr232Ter)
n.2495C>A
n.2506C>A
 ClinVar dbSNP
16g.53645858T>ACA395914595RPGRIP1Lc.2450A>T (p.Tyr817Phe)
n.2874A>T
c.2462A>T (p.Tyr821Phe)
c.695A>T (p.Tyr232Phe)
n.2494A>T
n.2505A>T
 gnomAD v4
16g.53645858T>CCA395914596RPGRIP1Lc.2450A>G (p.Tyr817Cys)
n.2874A>G
c.2462A>G (p.Tyr821Cys)
c.695A>G (p.Tyr232Cys)
n.2494A>G
n.2505A>G
16g.53645858T>GCA395914597RPGRIP1Lc.2450A>C (p.Tyr817Ser)
n.2874A>C
c.2462A>C (p.Tyr821Ser)
c.695A>C (p.Tyr232Ser)
n.2494A>C
n.2505A>C
16g.53645859A>CCA395914598RPGRIP1Lc.2449T>G (p.Tyr817Asp)
n.2873T>G
c.2461T>G (p.Tyr821Asp)
c.694T>G (p.Tyr232Asp)
n.2493T>G
n.2504T>G
16g.53645859A>GCA395914599RPGRIP1Lc.2449T>C (p.Tyr817His)
n.2873T>C
c.2461T>C (p.Tyr821His)
c.694T>C (p.Tyr232His)
n.2493T>C
n.2504T>C
16g.53645859A>TCA395914600RPGRIP1Lc.2449T>A (p.Tyr817Asn)
n.2873T>A
c.2461T>A (p.Tyr821Asn)
c.694T>A (p.Tyr232Asn)
n.2493T>A
n.2504T>A
16g.53645860C>ACA495784407RPGRIP1Lc.2448G>T (p.Val816=)
n.2872G>T
c.2460G>T (p.Val820=)
c.693G>T (p.Val231=)
n.2492G>T
n.2503G>T
16g.53645860C=CA2223254400RPGRIP1Lc.2448G= (p.Val816=)
n.2872G=
c.2460G= (p.Val820=)
c.693G= (p.Val231=)
n.2492G=
n.2503G=
16g.53645860C>GCA495784408RPGRIP1Lc.2448G>C (p.Val816=)
n.2872G>C
c.2460G>C (p.Val820=)
c.693G>C (p.Val231=)
n.2492G>C
n.2503G>C
16g.53645860C>TCA8057542RPGRIP1Lc.2448G>A (p.Val816=)
n.2872G>A
c.2460G>A (p.Val820=)
c.693G>A (p.Val231=)
n.2492G>A
n.2503G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645861A>CCA395914601RPGRIP1Lc.2447T>G (p.Val816Gly)
n.2871T>G
c.2459T>G (p.Val820Gly)
c.692T>G (p.Val231Gly)
n.2491T>G
n.2502T>G
 gnomAD v4
16g.53645861A>GCA395914602RPGRIP1Lc.2447T>C (p.Val816Ala)
n.2871T>C
c.2459T>C (p.Val820Ala)
c.692T>C (p.Val231Ala)
n.2491T>C
n.2502T>C
16g.53645861A>TCA395914603RPGRIP1Lc.2447T>A (p.Val816Glu)
n.2871T>A
c.2459T>A (p.Val820Glu)
c.692T>A (p.Val231Glu)
n.2491T>A
n.2502T>A
16g.53645862C>ACA395914604RPGRIP1Lc.2446G>T (p.Val816Leu)
n.2870G>T
c.2458G>T (p.Val820Leu)
c.691G>T (p.Val231Leu)
n.2490G>T
n.2501G>T
16g.53645862C>GCA395914606RPGRIP1Lc.2446G>C (p.Val816Leu)
n.2870G>C
c.2458G>C (p.Val820Leu)
c.691G>C (p.Val231Leu)
n.2490G>C
n.2501G>C
16g.53645862C>TCA395914605RPGRIP1Lc.2446G>A (p.Val816Met)
n.2870G>A
c.2458G>A (p.Val820Met)
c.691G>A (p.Val231Met)
n.2490G>A
n.2501G>A
16g.53645863A>CCA495784410RPGRIP1Lc.2445T>G (p.Val815=)
n.2869T>G
c.2457T>G (p.Val819=)
c.690T>G (p.Val230=)
n.2489T>G
n.2500T>G
16g.53645863A>GCA495784412RPGRIP1Lc.2445T>C (p.Val815=)
n.2869T>C
c.2457T>C (p.Val819=)
c.690T>C (p.Val230=)
n.2489T>C
n.2500T>C
 ClinVar dbSNP
16g.53645863A>TCA495784411RPGRIP1Lc.2445T>A (p.Val815=)
n.2869T>A
c.2457T>A (p.Val819=)
c.690T>A (p.Val230=)
n.2489T>A
n.2500T>A
16g.53645864A>CCA395914607RPGRIP1Lc.2444T>G (p.Val815Gly)
n.2868T>G
c.2456T>G (p.Val819Gly)
c.689T>G (p.Val230Gly)
n.2488T>G
n.2499T>G
16g.53645864A>GCA395914608RPGRIP1Lc.2444T>C (p.Val815Ala)
n.2868T>C
c.2456T>C (p.Val819Ala)
c.689T>C (p.Val230Ala)
n.2488T>C
n.2499T>C
 ClinVar gnomAD v4
16g.53645864A>TCA395914609RPGRIP1Lc.2444T>A (p.Val815Asp)
n.2868T>A
c.2456T>A (p.Val819Asp)
c.689T>A (p.Val230Asp)
n.2488T>A
n.2499T>A
16g.53645865C>ACA395914610RPGRIP1Lc.2443G>T (p.Val815Phe)
n.2867G>T
c.2455G>T (p.Val819Phe)
c.688G>T (p.Val230Phe)
n.2487G>T
n.2498G>T
16g.53645865C>GCA395914611RPGRIP1Lc.2443G>C (p.Val815Leu)
n.2867G>C
c.2455G>C (p.Val819Leu)
c.688G>C (p.Val230Leu)
n.2487G>C
n.2498G>C
16g.53645865C>TCA395914612RPGRIP1Lc.2443G>A (p.Val815Ile)
n.2867G>A
c.2455G>A (p.Val819Ile)
c.688G>A (p.Val230Ile)
n.2487G>A
n.2498G>A
 gnomAD v4
16g.53645866A=CA2223254406RPGRIP1Lc.2442T= (p.Tyr814=)
n.2866T=
c.2454T= (p.Tyr818=)
c.687T= (p.Tyr229=)
n.2486T=
n.2497T=
16g.53645866A>CCA395914613RPGRIP1Lc.2442T>G (p.Tyr814Ter)
n.2866T>G
c.2454T>G (p.Tyr818Ter)
c.687T>G (p.Tyr229Ter)
n.2486T>G
n.2497T>G
16g.53645866A>GCA8057543RPGRIP1Lc.2442T>C (p.Tyr814=)
n.2866T>C
c.2454T>C (p.Tyr818=)
c.687T>C (p.Tyr229=)
n.2486T>C
n.2497T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645866A>TCA395914614RPGRIP1Lc.2442T>A (p.Tyr814Ter)
n.2866T>A
c.2454T>A (p.Tyr818Ter)
c.687T>A (p.Tyr229Ter)
n.2486T>A
n.2497T>A
16g.53645867T>ACA395914615RPGRIP1Lc.2441A>T (p.Tyr814Phe)
n.2865A>T
c.2453A>T (p.Tyr818Phe)
c.686A>T (p.Tyr229Phe)
n.2485A>T
n.2496A>T
16g.53645867T>CCA8057544RPGRIP1Lc.2441A>G (p.Tyr814Cys)
n.2865A>G
c.2453A>G (p.Tyr818Cys)
c.686A>G (p.Tyr229Cys)
n.2485A>G
n.2496A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.53645867T>GCA395914616RPGRIP1Lc.2441A>C (p.Tyr814Ser)
n.2865A>C
c.2453A>C (p.Tyr818Ser)
c.686A>C (p.Tyr229Ser)
n.2485A>C
n.2496A>C
16g.53645867T=CA2223254414RPGRIP1Lc.2441A= (p.Tyr814=)
n.2865A=
c.2453A= (p.Tyr818=)
c.686A= (p.Tyr229=)
n.2485A=
n.2496A=
16g.53645868A>CCA395914619RPGRIP1Lc.2440T>G (p.Tyr814Asp)
n.2864T>G
c.2452T>G (p.Tyr818Asp)
c.685T>G (p.Tyr229Asp)
n.2484T>G
n.2495T>G
16g.53645868A>GCA395914618RPGRIP1Lc.2440T>C (p.Tyr814His)
n.2864T>C
c.2452T>C (p.Tyr818His)
c.685T>C (p.Tyr229His)
n.2484T>C
n.2495T>C
16g.53645868A>TCA395914617RPGRIP1Lc.2440T>A (p.Tyr814Asn)
n.2864T>A
c.2452T>A (p.Tyr818Asn)
c.685T>A (p.Tyr229Asn)
n.2484T>A
n.2495T>A
16g.53645869T>ACA495784414RPGRIP1Lc.2439A>T (p.Pro813=)
n.2863A>T
c.2451A>T (p.Pro817=)
c.684A>T (p.Pro228=)
n.2483A>T
n.2494A>T
16g.53645869T>CCA240914RPGRIP1Lc.2439A>G (p.Pro813=)
n.2863A>G
c.2451A>G (p.Pro817=)
c.684A>G (p.Pro228=)
n.2483A>G
n.2494A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.53645869T>GCA495784415RPGRIP1Lc.2439A>C (p.Pro813=)
n.2863A>C
c.2451A>C (p.Pro817=)
c.684A>C (p.Pro228=)
n.2483A>C
n.2494A>C
16g.53645869T=CA2223254427RPGRIP1Lc.2439A= (p.Pro813=)
n.2863A=
c.2451A= (p.Pro817=)
c.684A= (p.Pro228=)
n.2483A=
n.2494A=
16g.53645870G>ACA395914620RPGRIP1Lc.2438C>T (p.Pro813Leu)
n.2862C>T
c.2450C>T (p.Pro817Leu)
c.683C>T (p.Pro228Leu)
n.2482C>T
n.2493C>T
 dbSNP gnomAD v4
16g.53645870G>CCA395914621RPGRIP1Lc.2438C>G (p.Pro813Arg)
n.2862C>G
c.2450C>G (p.Pro817Arg)
c.683C>G (p.Pro228Arg)
n.2482C>G
n.2493C>G
16g.53645870G=CA2223254435RPGRIP1Lc.2438C= (p.Pro813=)
n.2862C=
c.2450C= (p.Pro817=)
c.683C= (p.Pro228=)
n.2482C=
n.2493C=
16g.53645870G>TCA395914622RPGRIP1Lc.2438C>A (p.Pro813Gln)
n.2862C>A
c.2450C>A (p.Pro817Gln)
c.683C>A (p.Pro228Gln)
n.2482C>A
n.2493C>A
16g.53645871G>ACA395914623RPGRIP1Lc.2437C>T (p.Pro813Ser)
n.2861C>T
c.2449C>T (p.Pro817Ser)
c.682C>T (p.Pro228Ser)
n.2481C>T
n.2492C>T
 dbSNP
16g.53645871G>CCA395914624RPGRIP1Lc.2437C>G (p.Pro813Ala)
n.2861C>G
c.2449C>G (p.Pro817Ala)
c.682C>G (p.Pro228Ala)
n.2481C>G
n.2492C>G
 dbSNP gnomAD v4
16g.53645871G=CA2223254438RPGRIP1Lc.2437C= (p.Pro813=)
n.2861C=
c.2449C= (p.Pro817=)
c.682C= (p.Pro228=)
n.2481C=
n.2492C=
16g.53645871G>TCA395914625RPGRIP1Lc.2437C>A (p.Pro813Thr)
n.2861C>A
c.2449C>A (p.Pro817Thr)
c.682C>A (p.Pro228Thr)
n.2481C>A
n.2492C>A
16g.53645871_53645873delinsGGTCA2223254441RPGRIP1Lc.2435_2437delinsACC (p.His812=)
n.2859_2861delinsACC
c.2447_2449delinsACC (p.His816=)
c.680_682delinsACC (p.His227=)
n.2479_2481delinsACC
n.2490_2492delinsACC
16g.53645872G>ACA495784417RPGRIP1Lc.2436C>T (p.His812=)
n.2860C>T
c.2448C>T (p.His816=)
c.681C>T (p.His227=)
n.2480C>T
n.2491C>T
16g.53645872G>CCA395914626RPGRIP1Lc.2436C>G (p.His812Gln)
n.2860C>G
c.2448C>G (p.His816Gln)
c.681C>G (p.His227Gln)
n.2480C>G
n.2491C>G
16g.53645872G>TCA395914627RPGRIP1Lc.2436C>A (p.His812Gln)
n.2860C>A
c.2448C>A (p.His816Gln)
c.681C>A (p.His227Gln)
n.2480C>A
n.2491C>A
16g.53645875_53645876dupCA2580613481RPGRIP1Lc.2435_2436dup (p.Pro813ThrfsTer?)
n.2859_2860dup
c.2447_2448dup (p.Pro817ThrfsTer?)
c.680_681dup (p.Pro228ThrfsTer?)
n.2479_2480dup
n.2490_2491dup
 ClinVar
16g.53645875_53645876delCA2223254445RPGRIP1Lc.2435_2436del (p.His812ProfsTer9)
n.2859_2860del
c.2447_2448del (p.His816ProfsTer9)
c.680_681del (p.His227ProfsTer9)
n.2479_2480del
n.2490_2491del
 dbSNP
16g.53645873T>ACA395914628RPGRIP1Lc.2435A>T (p.His812Leu)
n.2859A>T
c.2447A>T (p.His816Leu)
c.680A>T (p.His227Leu)
n.2479A>T
n.2490A>T
16g.53645873T>CCA395914629RPGRIP1Lc.2435A>G (p.His812Arg)
n.2859A>G
c.2447A>G (p.His816Arg)
c.680A>G (p.His227Arg)
n.2479A>G
n.2490A>G
16g.53645873T>GCA395914630RPGRIP1Lc.2435A>C (p.His812Pro)
n.2859A>C
c.2447A>C (p.His816Pro)
c.680A>C (p.His227Pro)
n.2479A>C
n.2490A>C
 COSMIC
16g.53645874G>ACA395914631RPGRIP1Lc.2434C>T (p.His812Tyr)
n.2858C>T
c.2446C>T (p.His816Tyr)
c.679C>T (p.His227Tyr)
n.2478C>T
n.2489C>T
 dbSNP gnomAD v3 gnomAD v4
16g.53645874G>CCA395914633RPGRIP1Lc.2434C>G (p.His812Asp)
n.2858C>G
c.2446C>G (p.His816Asp)
c.679C>G (p.His227Asp)
n.2478C>G
n.2489C>G
16g.53645874G=CA2223254449RPGRIP1Lc.2434C= (p.His812=)
n.2858C=
c.2446C= (p.His816=)
c.679C= (p.His227=)
n.2478C=
n.2489C=
16g.53645874G>TCA395914632RPGRIP1Lc.2434C>A (p.His812Asn)
n.2858C>A
c.2446C>A (p.His816Asn)
c.679C>A (p.His227Asn)
n.2478C>A
n.2489C>A
16g.53645875T>ACA495784418RPGRIP1Lc.2433A>T (p.Pro811=)
n.2857A>T
c.2445A>T (p.Pro815=)
c.678A>T (p.Pro226=)
n.2477A>T
n.2488A>T
16g.53645875T>CCA495784419RPGRIP1Lc.2433A>G (p.Pro811=)
n.2857A>G
c.2445A>G (p.Pro815=)
c.678A>G (p.Pro226=)
n.2477A>G
n.2488A>G
 dbSNP gnomAD v2 gnomAD v4
16g.53645875T>GCA495784420RPGRIP1Lc.2433A>C (p.Pro811=)
n.2857A>C
c.2445A>C (p.Pro815=)
c.678A>C (p.Pro226=)
n.2477A>C
n.2488A>C
16g.53645875T=CA2223254454RPGRIP1Lc.2433A= (p.Pro811=)
n.2857A=
c.2445A= (p.Pro815=)
c.678A= (p.Pro226=)
n.2477A=
n.2488A=
16g.53645875_53645876delinsTGCA2223254452RPGRIP1Lc.2432_2433delinsCA (p.Pro811=)
n.2856_2857delinsCA
c.2444_2445delinsCA (p.Pro815=)
c.677_678delinsCA (p.Pro226=)
n.2476_2477delinsCA
n.2487_2488delinsCA
16g.53645876G>ACA395914634RPGRIP1Lc.2432C>T (p.Pro811Leu)
n.2856C>T
c.2444C>T (p.Pro815Leu)
c.677C>T (p.Pro226Leu)
n.2476C>T
n.2487C>T
16g.53645876G>CCA395914636RPGRIP1Lc.2432C>G (p.Pro811Arg)
n.2856C>G
c.2444C>G (p.Pro815Arg)
c.677C>G (p.Pro226Arg)
n.2476C>G
n.2487C>G
16g.53645876G>TCA395914635RPGRIP1Lc.2432C>A (p.Pro811Gln)
n.2856C>A
c.2444C>A (p.Pro815Gln)
c.677C>A (p.Pro226Gln)
n.2476C>A
n.2487C>A
16g.53645877delCA912996019RPGRIP1Lc.2432del (p.Pro811HisfsTer?)
n.2856del
c.2444del (p.Pro815HisfsTer?)
c.677del (p.Pro226HisfsTer?)
n.2476del
n.2487del
 ClinVar dbSNP gnomAD v4
16g.53645877_53645897dupCA2633237785RPGRIP1Lc.2412_2432dup (p.Pro811_His812insArgAlaSerHisLeuGlnPro)
n.2836_2856dup
c.2424_2444dup (p.Pro815_His816insArgAlaSerHisLeuGlnPro)
c.657_677dup (p.Pro226_His227insArgAlaSerHisLeuGlnPro)
n.2456_2476dup
n.2467_2487dup
 gnomAD v4
16g.53645877G>ACA395914637RPGRIP1Lc.2431C>T (p.Pro811Ser)
n.2855C>T
c.2443C>T (p.Pro815Ser)
c.676C>T (p.Pro226Ser)
n.2475C>T
n.2486C>T
16g.53645877G>CCA395914639RPGRIP1Lc.2431C>G (p.Pro811Ala)
n.2855C>G
c.2443C>G (p.Pro815Ala)
c.676C>G (p.Pro226Ala)
n.2475C>G
n.2486C>G
16g.53645877G>TCA395914638RPGRIP1Lc.2431C>A (p.Pro811Thr)
n.2855C>A
c.2443C>A (p.Pro815Thr)
c.676C>A (p.Pro226Thr)
n.2475C>A
n.2486C>A
16g.53645878C>ACA395914640RPGRIP1Lc.2430G>T (p.Gln810His)
n.2854G>T
c.2442G>T (p.Gln814His)
c.675G>T (p.Gln225His)
n.2474G>T
n.2485G>T
16g.53645878C>GCA395914641RPGRIP1Lc.2430G>C (p.Gln810His)
n.2854G>C
c.2442G>C (p.Gln814His)
c.675G>C (p.Gln225His)
n.2474G>C
n.2485G>C
16g.53645878C>TCA495784422RPGRIP1Lc.2430G>A (p.Gln810=)
n.2854G>A
c.2442G>A (p.Gln814=)
c.675G>A (p.Gln225=)
n.2474G>A
n.2485G>A
16g.53645879T>ACA395914642RPGRIP1Lc.2429A>T (p.Gln810Leu)
n.2853A>T
c.2441A>T (p.Gln814Leu)
c.674A>T (p.Gln225Leu)
n.2473A>T
n.2484A>T
16g.53645879T>CCA395914643RPGRIP1Lc.2429A>G (p.Gln810Arg)
n.2853A>G
c.2441A>G (p.Gln814Arg)
c.674A>G (p.Gln225Arg)
n.2473A>G
n.2484A>G
16g.53645879T>GCA395914644RPGRIP1Lc.2429A>C (p.Gln810Pro)
n.2853A>C
c.2441A>C (p.Gln814Pro)
c.674A>C (p.Gln225Pro)
n.2473A>C
n.2484A>C
16g.53645880G>ACA395914645RPGRIP1Lc.2428C>T (p.Gln810Ter)
n.2852C>T
c.2440C>T (p.Gln814Ter)
c.673C>T (p.Gln225Ter)
n.2472C>T
n.2483C>T
 ClinVar gnomAD v4
16g.53645880G>CCA395914646RPGRIP1Lc.2428C>G (p.Gln810Glu)
n.2852C>G
c.2440C>G (p.Gln814Glu)
c.673C>G (p.Gln225Glu)
n.2472C>G
n.2483C>G
16g.53645880G>TCA395914647RPGRIP1Lc.2428C>A (p.Gln810Lys)
n.2852C>A
c.2440C>A (p.Gln814Lys)
c.673C>A (p.Gln225Lys)
n.2472C>A
n.2483C>A
16g.53645881C>ACA495784424RPGRIP1Lc.2427G>T (p.Leu809=)
n.2851G>T
c.2439G>T (p.Leu813=)
c.672G>T (p.Leu224=)
n.2471G>T
n.2482G>T
16g.53645881C=CA2223254459RPGRIP1Lc.2427G= (p.Leu809=)
n.2851G=
c.2439G= (p.Leu813=)
c.672G= (p.Leu224=)
n.2471G=
n.2482G=
16g.53645881C>GCA495784425RPGRIP1Lc.2427G>C (p.Leu809=)
n.2851G>C
c.2439G>C (p.Leu813=)
c.672G>C (p.Leu224=)
n.2471G>C
n.2482G>C
 dbSNP gnomAD v3 gnomAD v4
16g.53645881C>TCA495784426RPGRIP1Lc.2427G>A (p.Leu809=)
n.2851G>A
c.2439G>A (p.Leu813=)
c.672G>A (p.Leu224=)
n.2471G>A
n.2482G>A
16g.53645882A>CCA395914648RPGRIP1Lc.2426T>G (p.Leu809Arg)
n.2850T>G
c.2438T>G (p.Leu813Arg)
c.671T>G (p.Leu224Arg)
n.2470T>G
n.2481T>G
16g.53645882A>GCA395914649RPGRIP1Lc.2426T>C (p.Leu809Pro)
n.2850T>C
c.2438T>C (p.Leu813Pro)
c.671T>C (p.Leu224Pro)
n.2470T>C
n.2481T>C
16g.53645882A>TCA395914650RPGRIP1Lc.2426T>A (p.Leu809Gln)
n.2850T>A
c.2438T>A (p.Leu813Gln)
c.671T>A (p.Leu224Gln)
n.2470T>A
n.2481T>A
16g.53645883G>ACA495784427RPGRIP1Lc.2425C>T (p.Leu809=)
n.2849C>T
c.2437C>T (p.Leu813=)
c.670C>T (p.Leu224=)
n.2469C>T
n.2480C>T
 ClinVar
16g.53645883G>CCA8057545RPGRIP1Lc.2425C>G (p.Leu809Val)
n.2849C>G
c.2437C>G (p.Leu813Val)
c.670C>G (p.Leu224Val)
n.2469C>G
n.2480C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645883G=CA2223254467RPGRIP1Lc.2425C= (p.Leu809=)
n.2849C=
c.2437C= (p.Leu813=)
c.670C= (p.Leu224=)
n.2469C=
n.2480C=
16g.53645883G>TCA395914651RPGRIP1Lc.2425C>A (p.Leu809Met)
n.2849C>A
c.2437C>A (p.Leu813Met)
c.670C>A (p.Leu224Met)
n.2469C>A
n.2480C>A
16g.53645884G>ACA8057546RPGRIP1Lc.2424C>T (p.His808=)
n.2848C>T
c.2436C>T (p.His812=)
c.669C>T (p.His223=)
n.2468C>T
n.2479C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.53645884G>CCA395914653RPGRIP1Lc.2424C>G (p.His808Gln)
n.2848C>G
c.2436C>G (p.His812Gln)
c.669C>G (p.His223Gln)
n.2468C>G
n.2479C>G
 gnomAD v4
16g.53645884G=CA2223254471RPGRIP1Lc.2424C= (p.His808=)
n.2848C=
c.2436C= (p.His812=)
c.669C= (p.His223=)
n.2468C=
n.2479C=
16g.53645884G>TCA395914652RPGRIP1Lc.2424C>A (p.His808Gln)
n.2848C>A
c.2436C>A (p.His812Gln)
c.669C>A (p.His223Gln)
n.2468C>A
n.2479C>A
16g.53645885T>ACA395914654RPGRIP1Lc.2423A>T (p.His808Leu)
n.2847A>T
c.2435A>T (p.His812Leu)
c.668A>T (p.His223Leu)
n.2467A>T
n.2478A>T
16g.53645885T>CCA395914655RPGRIP1Lc.2423A>G (p.His808Arg)
n.2847A>G
c.2435A>G (p.His812Arg)
c.668A>G (p.His223Arg)
n.2467A>G
n.2478A>G
 gnomAD v4
16g.53645885T>GCA395914656RPGRIP1Lc.2423A>C (p.His808Pro)
n.2847A>C
c.2435A>C (p.His812Pro)
c.668A>C (p.His223Pro)
n.2467A>C
n.2478A>C
 dbSNP
16g.53645885T=CA2223254474RPGRIP1Lc.2423A= (p.His808=)
n.2847A=
c.2435A= (p.His812=)
c.668A= (p.His223=)
n.2467A=
n.2478A=
16g.53645886G>ACA395914657RPGRIP1Lc.2422C>T (p.His808Tyr)
n.2846C>T
c.2434C>T (p.His812Tyr)
c.667C>T (p.His223Tyr)
n.2466C>T
n.2477C>T
 dbSNP gnomAD v2
16g.53645886G>CCA395914658RPGRIP1Lc.2422C>G (p.His808Asp)
n.2846C>G
c.2434C>G (p.His812Asp)
c.667C>G (p.His223Asp)
n.2466C>G
n.2477C>G
16g.53645886G=CA2223254478RPGRIP1Lc.2422C= (p.His808=)
n.2846C=
c.2434C= (p.His812=)
c.667C= (p.His223=)
n.2466C=
n.2477C=
16g.53645886G>TCA281339392RPGRIP1Lc.2422C>A (p.His808Asn)
n.2846C>A
c.2434C>A (p.His812Asn)
c.667C>A (p.His223Asn)
n.2466C>A
n.2477C>A
 dbSNP gnomAD v3 gnomAD v4
16g.53645887G>ACA495784430RPGRIP1Lc.2421C>T (p.Ser807=)
n.2845C>T
c.2433C>T (p.Ser811=)
c.666C>T (p.Ser222=)
n.2465C>T
n.2476C>T
16g.53645887G>CCA395914659RPGRIP1Lc.2421C>G (p.Ser807Arg)
n.2845C>G
c.2433C>G (p.Ser811Arg)
c.666C>G (p.Ser222Arg)
n.2465C>G
n.2476C>G
16g.53645887G>TCA395914660RPGRIP1Lc.2421C>A (p.Ser807Arg)
n.2845C>A
c.2433C>A (p.Ser811Arg)
c.666C>A (p.Ser222Arg)
n.2465C>A
n.2476C>A
16g.53645888C>ACA395914661RPGRIP1Lc.2420G>T (p.Ser807Ile)
n.2844G>T
c.2432G>T (p.Ser811Ile)
c.665G>T (p.Ser222Ile)
n.2464G>T
n.2475G>T
16g.53645888C>GCA395914662RPGRIP1Lc.2420G>C (p.Ser807Thr)
n.2844G>C
c.2432G>C (p.Ser811Thr)
c.665G>C (p.Ser222Thr)
n.2464G>C
n.2475G>C
 gnomAD v4
16g.53645888C>TCA395914663RPGRIP1Lc.2420G>A (p.Ser807Asn)
n.2844G>A
c.2432G>A (p.Ser811Asn)
c.665G>A (p.Ser222Asn)
n.2464G>A
n.2475G>A
16g.53645889T>ACA395914666RPGRIP1Lc.2419A>T (p.Ser807Cys)
n.2843A>T
c.2431A>T (p.Ser811Cys)
c.664A>T (p.Ser222Cys)
n.2463A>T
n.2474A>T
16g.53645889T>CCA395914665RPGRIP1Lc.2419A>G (p.Ser807Gly)
n.2843A>G
c.2431A>G (p.Ser811Gly)
c.664A>G (p.Ser222Gly)
n.2463A>G
n.2474A>G
16g.53645889T>GCA395914664RPGRIP1Lc.2419A>C (p.Ser807Arg)
n.2843A>C
c.2431A>C (p.Ser811Arg)
c.664A>C (p.Ser222Arg)
n.2463A>C
n.2474A>C
16g.53645893_53645912delCA2633237795RPGRIP1Lc.2400_2419del (p.Asn800LysfsTer15)
n.2824_2843del
c.2412_2431del (p.Asn804LysfsTer15)
c.645_664del (p.Asn215LysfsTer15)
n.2444_2463del
n.2455_2474del
 gnomAD v4
16g.53645890T>ACA495784434RPGRIP1Lc.2418A>T (p.Ala806=)
n.2842A>T
c.2430A>T (p.Ala810=)
c.663A>T (p.Ala221=)
n.2462A>T
n.2473A>T
16g.53645890T>CCA495784433RPGRIP1Lc.2418A>G (p.Ala806=)
n.2842A>G
c.2430A>G (p.Ala810=)
c.663A>G (p.Ala221=)
n.2462A>G
n.2473A>G
 ClinVar dbSNP gnomAD v4
16g.53645890T>GCA495784432RPGRIP1Lc.2418A>C (p.Ala806=)
n.2842A>C
c.2430A>C (p.Ala810=)
c.663A>C (p.Ala221=)
n.2462A>C
n.2473A>C
16g.53645890T=CA2223254484RPGRIP1Lc.2418A= (p.Ala806=)
n.2842A=
c.2430A= (p.Ala810=)
c.663A= (p.Ala221=)
n.2462A=
n.2473A=
16g.53645891G>ACA395914667RPGRIP1Lc.2417C>T (p.Ala806Val)
n.2841C>T
c.2429C>T (p.Ala810Val)
c.662C>T (p.Ala221Val)
n.2461C>T
n.2472C>T
16g.53645891G>CCA395914668RPGRIP1Lc.2417C>G (p.Ala806Gly)
n.2841C>G
c.2429C>G (p.Ala810Gly)
c.662C>G (p.Ala221Gly)
n.2461C>G
n.2472C>G
16g.53645891G>TCA395914669RPGRIP1Lc.2417C>A (p.Ala806Glu)
n.2841C>A
c.2429C>A (p.Ala810Glu)
c.662C>A (p.Ala221Glu)
n.2461C>A
n.2472C>A
 gnomAD v4
16g.53645892C>ACA395914670RPGRIP1Lc.2416G>T (p.Ala806Ser)
n.2840G>T
c.2428G>T (p.Ala810Ser)
c.661G>T (p.Ala221Ser)
n.2460G>T
n.2471G>T
16g.53645892C>GCA395914671RPGRIP1Lc.2416G>C (p.Ala806Pro)
n.2840G>C
c.2428G>C (p.Ala810Pro)
c.661G>C (p.Ala221Pro)
n.2460G>C
n.2471G>C
 gnomAD v4
16g.53645892C>TCA395914672RPGRIP1Lc.2416G>A (p.Ala806Thr)
n.2840G>A
c.2428G>A (p.Ala810Thr)
c.661G>A (p.Ala221Thr)
n.2460G>A
n.2471G>A
16g.53645893T>ACA495784435RPGRIP1Lc.2415A>T (p.Arg805=)
n.2839A>T
c.2427A>T (p.Arg809=)
c.660A>T (p.Arg220=)
n.2459A>T
n.2470A>T
16g.53645893T>CCA495784436RPGRIP1Lc.2415A>G (p.Arg805=)
n.2839A>G
c.2427A>G (p.Arg809=)
c.660A>G (p.Arg220=)
n.2459A>G
n.2470A>G
16g.53645893T>GCA495784437RPGRIP1Lc.2415A>C (p.Arg805=)
n.2839A>C
c.2427A>C (p.Arg809=)
c.660A>C (p.Arg220=)
n.2459A>C
n.2470A>C
16g.53645894C>ACA395914673RPGRIP1Lc.2414G>T (p.Arg805Leu)
n.2838G>T
c.2426G>T (p.Arg809Leu)
c.659G>T (p.Arg220Leu)
n.2458G>T
n.2469G>T
16g.53645894C=CA2223254490RPGRIP1Lc.2414G= (p.Arg805=)
n.2838G=
c.2426G= (p.Arg809=)
c.659G= (p.Arg220=)
n.2458G=
n.2469G=
16g.53645894C>GCA395914674RPGRIP1Lc.2414G>C (p.Arg805Pro)
n.2838G>C
c.2426G>C (p.Arg809Pro)
c.659G>C (p.Arg220Pro)
n.2458G>C
n.2469G>C
16g.53645894C>TCA8057547RPGRIP1Lc.2414G>A (p.Arg805Gln)
n.2838G>A
c.2426G>A (p.Arg809Gln)
c.659G>A (p.Arg220Gln)
n.2458G>A
n.2469G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53645895G>ACA210648RPGRIP1Lc.2413C>T (p.Arg805Ter)
n.2837C>T
c.2425C>T (p.Arg809Ter)
c.658C>T (p.Arg220Ter)
n.2457C>T
n.2468C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.53645895G>CCA395914675RPGRIP1Lc.2413C>G (p.Arg805Gly)
n.2837C>G
c.2425C>G (p.Arg809Gly)
c.658C>G (p.Arg220Gly)
n.2457C>G
n.2468C>G
16g.53645895G=CA2223254498RPGRIP1Lc.2413C= (p.Arg805=)
n.2837C=
c.2425C= (p.Arg809=)
c.658C= (p.Arg220=)
n.2457C=
n.2468C=
16g.53645895G>TCA495784439RPGRIP1Lc.2413C>A (p.Arg805=)
n.2837C>A
c.2425C>A (p.Arg809=)
c.658C>A (p.Arg220=)
n.2457C>A
n.2468C>A

Number of alleles fetched