Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.53652534_53652538delinsCCAATCA2223265725RPGRIP1Lc.2149_2152+1delinsATTGG
n.2573_2576+1delinsATTGG
c.2161_2164+1delinsATTGG
c.394_397+1delinsATTGG
n.2193_2196+1delinsATTGG
n.2204_2207+1delinsATTGG
16g.53652538_53652541delCA8057631RPGRIP1Lc.2149_2152del (p.Ile717GlufsTer18)
n.2573_2576del
c.2161_2164del (p.Ile721GlufsTer18)
c.394_397del (p.Ile132GlufsTer18)
n.2193_2196del
n.2204_2207del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.53652537A=CA2223265730RPGRIP1Lc.2150T= (p.Ile717=)
n.2574T=
c.2162T= (p.Ile721=)
c.395T= (p.Ile132=)
n.2194T=
n.2205T=
16g.53652537A>CCA395916535RPGRIP1Lc.2150T>G (p.Ile717Ser)
n.2574T>G
c.2162T>G (p.Ile721Ser)
c.395T>G (p.Ile132Ser)
n.2194T>G
n.2205T>G
16g.53652537A>GCA395916536RPGRIP1Lc.2150T>C (p.Ile717Thr)
n.2574T>C
c.2162T>C (p.Ile721Thr)
c.395T>C (p.Ile132Thr)
n.2194T>C
n.2205T>C
 dbSNP
16g.53652537A>TCA395916537RPGRIP1Lc.2150T>A (p.Ile717Asn)
n.2574T>A
c.2162T>A (p.Ile721Asn)
c.395T>A (p.Ile132Asn)
n.2194T>A
n.2205T>A
16g.53652538T>ACA395916540RPGRIP1Lc.2149A>T (p.Ile717Phe)
n.2573A>T
c.2161A>T (p.Ile721Phe)
c.394A>T (p.Ile132Phe)
n.2193A>T
n.2204A>T
16g.53652538T>CCA395916539RPGRIP1Lc.2149A>G (p.Ile717Val)
n.2573A>G
c.2161A>G (p.Ile721Val)
c.394A>G (p.Ile132Val)
n.2193A>G
n.2204A>G
16g.53652538T>GCA395916538RPGRIP1Lc.2149A>C (p.Ile717Leu)
n.2573A>C
c.2161A>C (p.Ile721Leu)
c.394A>C (p.Ile132Leu)
n.2193A>C
n.2204A>C
16g.53652539C>ACA395916541RPGRIP1Lc.2148G>T (p.Leu716Phe)
n.2572G>T
c.2160G>T (p.Leu720Phe)
c.393G>T (p.Leu131Phe)
n.2192G>T
n.2203G>T
 dbSNP
16g.53652539C>GCA395916542RPGRIP1Lc.2148G>C (p.Leu716Phe)
n.2572G>C
c.2160G>C (p.Leu720Phe)
c.393G>C (p.Leu131Phe)
n.2192G>C
n.2203G>C
16g.53652539C>TCA495536622RPGRIP1Lc.2148G>A (p.Leu716=)
n.2572G>A
c.2160G>A (p.Leu720=)
c.393G>A (p.Leu131=)
n.2192G>A
n.2203G>A
16g.53652540A>CCA395916543RPGRIP1Lc.2147T>G (p.Leu716Trp)
n.2571T>G
c.2159T>G (p.Leu720Trp)
c.392T>G (p.Leu131Trp)
n.2191T>G
n.2202T>G
 gnomAD v4
16g.53652540A>GCA395916544RPGRIP1Lc.2147T>C (p.Leu716Ser)
n.2571T>C
c.2159T>C (p.Leu720Ser)
c.392T>C (p.Leu131Ser)
n.2191T>C
n.2202T>C
16g.53652540A>TCA395916545RPGRIP1Lc.2147T>A (p.Leu716Ter)
n.2571T>A
c.2159T>A (p.Leu720Ter)
c.392T>A (p.Leu131Ter)
n.2191T>A
n.2202T>A
16g.53652541A>CCA395916546RPGRIP1Lc.2146T>G (p.Leu716Val)
n.2570T>G
c.2158T>G (p.Leu720Val)
c.391T>G (p.Leu131Val)
n.2190T>G
n.2201T>G
16g.53652541A>GCA495536623RPGRIP1Lc.2146T>C (p.Leu716=)
n.2570T>C
c.2158T>C (p.Leu720=)
c.391T>C (p.Leu131=)
n.2190T>C
n.2201T>C
16g.53652541A>TCA395916547RPGRIP1Lc.2146T>A (p.Leu716Met)
n.2570T>A
c.2158T>A (p.Leu720Met)
c.391T>A (p.Leu131Met)
n.2190T>A
n.2201T>A
16g.53652542A>CCA395916548RPGRIP1Lc.2145T>G (p.Ser715Arg)
n.2569T>G
c.2157T>G (p.Ser719Arg)
c.390T>G (p.Ser130Arg)
n.2189T>G
n.2200T>G
16g.53652542A>GCA495536624RPGRIP1Lc.2145T>C (p.Ser715=)
n.2569T>C
c.2157T>C (p.Ser719=)
c.390T>C (p.Ser130=)
n.2189T>C
n.2200T>C
 ClinVar
16g.53652542A>TCA395916549RPGRIP1Lc.2145T>A (p.Ser715Arg)
n.2569T>A
c.2157T>A (p.Ser719Arg)
c.390T>A (p.Ser130Arg)
n.2189T>A
n.2200T>A
16g.53652543C>ACA395916550RPGRIP1Lc.2144G>T (p.Ser715Ile)
n.2568G>T
c.2156G>T (p.Ser719Ile)
c.389G>T (p.Ser130Ile)
n.2188G>T
n.2199G>T
16g.53652543C>GCA395916551RPGRIP1Lc.2144G>C (p.Ser715Thr)
n.2568G>C
c.2156G>C (p.Ser719Thr)
c.389G>C (p.Ser130Thr)
n.2188G>C
n.2199G>C
16g.53652543C>TCA395916552RPGRIP1Lc.2144G>A (p.Ser715Asn)
n.2568G>A
c.2156G>A (p.Ser719Asn)
c.389G>A (p.Ser130Asn)
n.2188G>A
n.2199G>A
16g.53652544T>ACA395916554RPGRIP1Lc.2143A>T (p.Ser715Cys)
n.2567A>T
c.2155A>T (p.Ser719Cys)
c.388A>T (p.Ser130Cys)
n.2187A>T
n.2198A>T
16g.53652544T>CCA395916555RPGRIP1Lc.2143A>G (p.Ser715Gly)
n.2567A>G
c.2155A>G (p.Ser719Gly)
c.388A>G (p.Ser130Gly)
n.2187A>G
n.2198A>G
16g.53652544T>GCA395916553RPGRIP1Lc.2143A>C (p.Ser715Arg)
n.2567A>C
c.2155A>C (p.Ser719Arg)
c.388A>C (p.Ser130Arg)
n.2187A>C
n.2198A>C
16g.53652545T>ACA495536625RPGRIP1Lc.2142A>T (p.Ala714=)
n.2566A>T
c.2154A>T (p.Ala718=)
c.387A>T (p.Ala129=)
n.2186A>T
n.2197A>T
16g.53652545T>CCA495536626RPGRIP1Lc.2142A>G (p.Ala714=)
n.2566A>G
c.2154A>G (p.Ala718=)
c.387A>G (p.Ala129=)
n.2186A>G
n.2197A>G
16g.53652545T>GCA495536627RPGRIP1Lc.2142A>C (p.Ala714=)
n.2566A>C
c.2154A>C (p.Ala718=)
c.387A>C (p.Ala129=)
n.2186A>C
n.2197A>C
16g.53652546G>ACA395916556RPGRIP1Lc.2141C>T (p.Ala714Val)
n.2565C>T
c.2153C>T (p.Ala718Val)
c.386C>T (p.Ala129Val)
n.2185C>T
n.2196C>T
 gnomAD v4
16g.53652546G>CCA395916557RPGRIP1Lc.2141C>G (p.Ala714Gly)
n.2565C>G
c.2153C>G (p.Ala718Gly)
c.386C>G (p.Ala129Gly)
n.2185C>G
n.2196C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.53652546G=CA2223265735RPGRIP1Lc.2141C= (p.Ala714=)
n.2565C=
c.2153C= (p.Ala718=)
c.386C= (p.Ala129=)
n.2185C=
n.2196C=
16g.53652546G>TCA395916558RPGRIP1Lc.2141C>A (p.Ala714Glu)
n.2565C>A
c.2153C>A (p.Ala718Glu)
c.386C>A (p.Ala129Glu)
n.2185C>A
n.2196C>A
16g.53652547C>ACA395916559RPGRIP1Lc.2140G>T (p.Ala714Ser)
n.2564G>T
c.2152G>T (p.Ala718Ser)
c.385G>T (p.Ala129Ser)
n.2184G>T
n.2195G>T
 gnomAD v4
16g.53652547C>GCA395916560RPGRIP1Lc.2140G>C (p.Ala714Pro)
n.2564G>C
c.2152G>C (p.Ala718Pro)
c.385G>C (p.Ala129Pro)
n.2184G>C
n.2195G>C
16g.53652547C>TCA395916561RPGRIP1Lc.2140G>A (p.Ala714Thr)
n.2564G>A
c.2152G>A (p.Ala718Thr)
c.385G>A (p.Ala129Thr)
n.2184G>A
n.2195G>A
16g.53652548T>ACA495536628RPGRIP1Lc.2139A>T (p.Thr713=)
n.2563A>T
c.2151A>T (p.Thr717=)
c.384A>T (p.Thr128=)
n.2183A>T
n.2194A>T
 COSMIC
16g.53652548T>CCA495536629RPGRIP1Lc.2139A>G (p.Thr713=)
n.2563A>G
c.2151A>G (p.Thr717=)
c.384A>G (p.Thr128=)
n.2183A>G
n.2194A>G
16g.53652548T>GCA495536630RPGRIP1Lc.2139A>C (p.Thr713=)
n.2563A>C
c.2151A>C (p.Thr717=)
c.384A>C (p.Thr128=)
n.2183A>C
n.2194A>C
16g.53652549G>ACA281343818RPGRIP1Lc.2138C>T (p.Thr713Ile)
n.2562C>T
c.2150C>T (p.Thr717Ile)
c.383C>T (p.Thr128Ile)
n.2182C>T
n.2193C>T
 ClinVar dbSNP gnomAD v4
16g.53652549G>CCA395916562RPGRIP1Lc.2138C>G (p.Thr713Arg)
n.2562C>G
c.2150C>G (p.Thr717Arg)
c.383C>G (p.Thr128Arg)
n.2182C>G
n.2193C>G
16g.53652549G=CA2223265741RPGRIP1Lc.2138C= (p.Thr713=)
n.2562C=
c.2150C= (p.Thr717=)
c.383C= (p.Thr128=)
n.2182C=
n.2193C=
16g.53652549G>TCA395916563RPGRIP1Lc.2138C>A (p.Thr713Lys)
n.2562C>A
c.2150C>A (p.Thr717Lys)
c.383C>A (p.Thr128Lys)
n.2182C>A
n.2193C>A
16g.53652550T>ACA395916564RPGRIP1Lc.2137A>T (p.Thr713Ser)
n.2561A>T
c.2149A>T (p.Thr717Ser)
c.382A>T (p.Thr128Ser)
n.2181A>T
n.2192A>T
16g.53652550T>CCA395916565RPGRIP1Lc.2137A>G (p.Thr713Ala)
n.2561A>G
c.2149A>G (p.Thr717Ala)
c.382A>G (p.Thr128Ala)
n.2181A>G
n.2192A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.53652550T>GCA395916566RPGRIP1Lc.2137A>C (p.Thr713Pro)
n.2561A>C
c.2149A>C (p.Thr717Pro)
c.382A>C (p.Thr128Pro)
n.2181A>C
n.2192A>C
16g.53652550T=CA2223265745RPGRIP1Lc.2137A= (p.Thr713=)
n.2561A=
c.2149A= (p.Thr717=)
c.382A= (p.Thr128=)
n.2181A=
n.2192A=
16g.53652551A>CCA395916567RPGRIP1Lc.2136T>G (p.Cys712Trp)
n.2560T>G
c.2148T>G (p.Cys716Trp)
c.381T>G (p.Cys127Trp)
n.2180T>G
n.2191T>G
16g.53652551A>GCA495536631RPGRIP1Lc.2136T>C (p.Cys712=)
n.2560T>C
c.2148T>C (p.Cys716=)
c.381T>C (p.Cys127=)
n.2180T>C
n.2191T>C
16g.53652551A>TCA395916568RPGRIP1Lc.2136T>A (p.Cys712Ter)
n.2560T>A
c.2148T>A (p.Cys716Ter)
c.381T>A (p.Cys127Ter)
n.2180T>A
n.2191T>A
16g.53652552C>ACA395916569RPGRIP1Lc.2135G>T (p.Cys712Phe)
n.2559G>T
c.2147G>T (p.Cys716Phe)
c.380G>T (p.Cys127Phe)
n.2179G>T
n.2190G>T
16g.53652552C>GCA395916571RPGRIP1Lc.2135G>C (p.Cys712Ser)
n.2559G>C
c.2147G>C (p.Cys716Ser)
c.380G>C (p.Cys127Ser)
n.2179G>C
n.2190G>C
16g.53652552C>TCA395916570RPGRIP1Lc.2135G>A (p.Cys712Tyr)
n.2559G>A
c.2147G>A (p.Cys716Tyr)
c.380G>A (p.Cys127Tyr)
n.2179G>A
n.2190G>A
 gnomAD v4
16g.53652553A>CCA395916572RPGRIP1Lc.2134T>G (p.Cys712Gly)
n.2558T>G
c.2146T>G (p.Cys716Gly)
c.379T>G (p.Cys127Gly)
n.2178T>G
n.2189T>G
 gnomAD v4
16g.53652553A>GCA395916573RPGRIP1Lc.2134T>C (p.Cys712Arg)
n.2558T>C
c.2146T>C (p.Cys716Arg)
c.379T>C (p.Cys127Arg)
n.2178T>C
n.2189T>C
16g.53652553A>TCA395916574RPGRIP1Lc.2134T>A (p.Cys712Ser)
n.2558T>A
c.2146T>A (p.Cys716Ser)
c.379T>A (p.Cys127Ser)
n.2178T>A
n.2189T>A
16g.53652554A>CCA395916575RPGRIP1Lc.2133T>G (p.Phe711Leu)
n.2557T>G
c.2145T>G (p.Phe715Leu)
c.378T>G (p.Phe126Leu)
n.2177T>G
n.2188T>G
16g.53652554A>GCA495536632RPGRIP1Lc.2133T>C (p.Phe711=)
n.2557T>C
c.2145T>C (p.Phe715=)
c.378T>C (p.Phe126=)
n.2177T>C
n.2188T>C
16g.53652554A>TCA395916576RPGRIP1Lc.2133T>A (p.Phe711Leu)
n.2557T>A
c.2145T>A (p.Phe715Leu)
c.378T>A (p.Phe126Leu)
n.2177T>A
n.2188T>A
16g.53652555A>CCA395916577RPGRIP1Lc.2132T>G (p.Phe711Cys)
n.2556T>G
c.2144T>G (p.Phe715Cys)
c.377T>G (p.Phe126Cys)
n.2176T>G
n.2187T>G
16g.53652555A>GCA395916578RPGRIP1Lc.2132T>C (p.Phe711Ser)
n.2556T>C
c.2144T>C (p.Phe715Ser)
c.377T>C (p.Phe126Ser)
n.2176T>C
n.2187T>C
 gnomAD v4
16g.53652555A>TCA395916579RPGRIP1Lc.2132T>A (p.Phe711Tyr)
n.2556T>A
c.2144T>A (p.Phe715Tyr)
c.377T>A (p.Phe126Tyr)
n.2176T>A
n.2187T>A
16g.53652556A>CCA395916580RPGRIP1Lc.2131T>G (p.Phe711Val)
n.2555T>G
c.2143T>G (p.Phe715Val)
c.376T>G (p.Phe126Val)
n.2175T>G
n.2186T>G
16g.53652556A>GCA395916581RPGRIP1Lc.2131T>C (p.Phe711Leu)
n.2555T>C
c.2143T>C (p.Phe715Leu)
c.376T>C (p.Phe126Leu)
n.2175T>C
n.2186T>C
16g.53652556A>TCA395916582RPGRIP1Lc.2131T>A (p.Phe711Ile)
n.2555T>A
c.2143T>A (p.Phe715Ile)
c.376T>A (p.Phe126Ile)
n.2175T>A
n.2186T>A
16g.53652557T>ACA495536633RPGRIP1Lc.2130A>T (p.Ile710=)
n.2554A>T
c.2142A>T (p.Ile714=)
c.375A>T (p.Ile125=)
n.2174A>T
n.2185A>T
16g.53652557T>CCA8057632RPGRIP1Lc.2130A>G (p.Ile710Met)
n.2554A>G
c.2142A>G (p.Ile714Met)
c.375A>G (p.Ile125Met)
n.2174A>G
n.2185A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53652557T>GCA495536634RPGRIP1Lc.2130A>C (p.Ile710=)
n.2554A>C
c.2142A>C (p.Ile714=)
c.375A>C (p.Ile125=)
n.2174A>C
n.2185A>C
16g.53652557T=CA2223265750RPGRIP1Lc.2130A= (p.Ile710=)
n.2554A=
c.2142A= (p.Ile714=)
c.375A= (p.Ile125=)
n.2174A=
n.2185A=
16g.53652558A>CCA395916583RPGRIP1Lc.2129T>G (p.Ile710Arg)
n.2553T>G
c.2141T>G (p.Ile714Arg)
c.374T>G (p.Ile125Arg)
n.2173T>G
n.2184T>G
16g.53652558A>GCA395916585RPGRIP1Lc.2129T>C (p.Ile710Thr)
n.2553T>C
c.2141T>C (p.Ile714Thr)
c.374T>C (p.Ile125Thr)
n.2173T>C
n.2184T>C
16g.53652558A>TCA395916584RPGRIP1Lc.2129T>A (p.Ile710Lys)
n.2553T>A
c.2141T>A (p.Ile714Lys)
c.374T>A (p.Ile125Lys)
n.2173T>A
n.2184T>A
16g.53652559T>ACA395916586RPGRIP1Lc.2128A>T (p.Ile710Leu)
n.2552A>T
c.2140A>T (p.Ile714Leu)
c.373A>T (p.Ile125Leu)
n.2172A>T
n.2183A>T
16g.53652559T>CCA395916587RPGRIP1Lc.2128A>G (p.Ile710Val)
n.2552A>G
c.2140A>G (p.Ile714Val)
c.373A>G (p.Ile125Val)
n.2172A>G
n.2183A>G
 dbSNP gnomAD v2 gnomAD v4
16g.53652559T>GCA395916588RPGRIP1Lc.2128A>C (p.Ile710Leu)
n.2552A>C
c.2140A>C (p.Ile714Leu)
c.373A>C (p.Ile125Leu)
n.2172A>C
n.2183A>C
16g.53652559T=CA2223265757RPGRIP1Lc.2128A= (p.Ile710=)
n.2552A=
c.2140A= (p.Ile714=)
c.373A= (p.Ile125=)
n.2172A=
n.2183A=
16g.53652560T>ACA495536635RPGRIP1Lc.2127A>T (p.Arg709=)
n.2551A>T
c.2139A>T (p.Arg713=)
c.372A>T (p.Arg124=)
n.2171A>T
n.2182A>T
16g.53652560T>CCA495536636RPGRIP1Lc.2127A>G (p.Arg709=)
n.2551A>G
c.2139A>G (p.Arg713=)
c.372A>G (p.Arg124=)
n.2171A>G
n.2182A>G
16g.53652560T>GCA495536637RPGRIP1Lc.2127A>C (p.Arg709=)
n.2551A>C
c.2139A>C (p.Arg713=)
c.372A>C (p.Arg124=)
n.2171A>C
n.2182A>C
16g.53652561C>ACA8057634RPGRIP1Lc.2126G>T (p.Arg709Leu)
n.2550G>T
c.2138G>T (p.Arg713Leu)
c.371G>T (p.Arg124Leu)
n.2170G>T
n.2181G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.53652561C=CA2223265758RPGRIP1Lc.2126G= (p.Arg709=)
n.2550G=
c.2138G= (p.Arg713=)
c.371G= (p.Arg124=)
n.2170G=
n.2181G=
16g.53652561C>GCA395916589RPGRIP1Lc.2126G>C (p.Arg709Pro)
n.2550G>C
c.2138G>C (p.Arg713Pro)
c.371G>C (p.Arg124Pro)
n.2170G>C
n.2181G>C
16g.53652561C>TCA8057633RPGRIP1Lc.2126G>A (p.Arg709Gln)
n.2550G>A
c.2138G>A (p.Arg713Gln)
c.371G>A (p.Arg124Gln)
n.2170G>A
n.2181G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.53652562G>ACA281343836RPGRIP1Lc.2125C>T (p.Arg709Ter)
n.2549C>T
c.2137C>T (p.Arg713Ter)
c.370C>T (p.Arg124Ter)
n.2169C>T
n.2180C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.53652562G>CCA395916590RPGRIP1Lc.2125C>G (p.Arg709Gly)
n.2549C>G
c.2137C>G (p.Arg713Gly)
c.370C>G (p.Arg124Gly)
n.2169C>G
n.2180C>G
 dbSNP gnomAD v3 gnomAD v4
16g.53652562G=CA2223265766RPGRIP1Lc.2125C= (p.Arg709=)
n.2549C=
c.2137C= (p.Arg713=)
c.370C= (p.Arg124=)
n.2169C=
n.2180C=
16g.53652562G>TCA495536638RPGRIP1Lc.2125C>A (p.Arg709=)
n.2549C>A
c.2137C>A (p.Arg713=)
c.370C>A (p.Arg124=)
n.2169C>A
n.2180C>A
 gnomAD v4
16g.53652563G>ACA495536639RPGRIP1Lc.2124C>T (p.Gly708=)
n.2548C>T
c.2136C>T (p.Gly712=)
c.369C>T (p.Gly123=)
n.2168C>T
n.2179C>T
16g.53652563G>CCA495536640RPGRIP1Lc.2124C>G (p.Gly708=)
n.2548C>G
c.2136C>G (p.Gly712=)
c.369C>G (p.Gly123=)
n.2168C>G
n.2179C>G
16g.53652563G>TCA495536641RPGRIP1Lc.2124C>A (p.Gly708=)
n.2548C>A
c.2136C>A (p.Gly712=)
c.369C>A (p.Gly123=)
n.2168C>A
n.2179C>A
16g.53652564C>ACA395916591RPGRIP1Lc.2123G>T (p.Gly708Val)
n.2547G>T
c.2135G>T (p.Gly712Val)
c.368G>T (p.Gly123Val)
n.2167G>T
n.2178G>T
16g.53652564C>GCA395916592RPGRIP1Lc.2123G>C (p.Gly708Ala)
n.2547G>C
c.2135G>C (p.Gly712Ala)
c.368G>C (p.Gly123Ala)
n.2167G>C
n.2178G>C
16g.53652564C>TCA395916593RPGRIP1Lc.2123G>A (p.Gly708Asp)
n.2547G>A
c.2135G>A (p.Gly712Asp)
c.368G>A (p.Gly123Asp)
n.2167G>A
n.2178G>A
16g.53652565C>ACA395916594RPGRIP1Lc.2122G>T (p.Gly708Cys)
n.2546G>T
c.2134G>T (p.Gly712Cys)
c.367G>T (p.Gly123Cys)
n.2166G>T
n.2177G>T
16g.53652565C=CA2223265776RPGRIP1Lc.2122G= (p.Gly708=)
n.2546G=
c.2134G= (p.Gly712=)
c.367G= (p.Gly123=)
n.2166G=
n.2177G=
16g.53652565C>GCA395916595RPGRIP1Lc.2122G>C (p.Gly708Arg)
n.2546G>C
c.2134G>C (p.Gly712Arg)
c.367G>C (p.Gly123Arg)
n.2166G>C
n.2177G>C
16g.53652565C>TCA8057635RPGRIP1Lc.2122G>A (p.Gly708Ser)
n.2546G>A
c.2134G>A (p.Gly712Ser)
c.367G>A (p.Gly123Ser)
n.2166G>A
n.2177G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53652566G>ACA8057636RPGRIP1Lc.2121C>T (p.Ser707=)
n.2545C>T
c.2133C>T (p.Ser711=)
c.366C>T (p.Ser122=)
n.2165C>T
n.2176C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.53652566G>CCA395916597RPGRIP1Lc.2121C>G (p.Ser707Arg)
n.2545C>G
c.2133C>G (p.Ser711Arg)
c.366C>G (p.Ser122Arg)
n.2165C>G
n.2176C>G
16g.53652566G=CA2223265783RPGRIP1Lc.2121C= (p.Ser707=)
n.2545C=
c.2133C= (p.Ser711=)
c.366C= (p.Ser122=)
n.2165C=
n.2176C=
16g.53652566G>TCA395916596RPGRIP1Lc.2121C>A (p.Ser707Arg)
n.2545C>A
c.2133C>A (p.Ser711Arg)
c.366C>A (p.Ser122Arg)
n.2165C>A
n.2176C>A
16g.53652566_53652567insTCA645598418RPGRIP1Lc.2120_2121insA (p.Ser707ArgfsTer?)
n.2544_2545insA
c.2132_2133insA (p.Ser711ArgfsTer?)
c.365_366insA (p.Ser122ArgfsTer?)
n.2164_2165insA
n.2175_2176insA
 COSMIC
16g.53652567C>ACA8057637RPGRIP1Lc.2120G>T (p.Ser707Ile)
n.2544G>T
c.2132G>T (p.Ser711Ile)
c.365G>T (p.Ser122Ile)
n.2164G>T
n.2175G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53652567C=CA2223265788RPGRIP1Lc.2120G= (p.Ser707=)
n.2544G=
c.2132G= (p.Ser711=)
c.365G= (p.Ser122=)
n.2164G=
n.2175G=
16g.53652567C>GCA395916598RPGRIP1Lc.2120G>C (p.Ser707Thr)
n.2544G>C
c.2132G>C (p.Ser711Thr)
c.365G>C (p.Ser122Thr)
n.2164G>C
n.2175G>C
16g.53652567C>TCA281343851RPGRIP1Lc.2120G>A (p.Ser707Asn)
n.2544G>A
c.2132G>A (p.Ser711Asn)
c.365G>A (p.Ser122Asn)
n.2164G>A
n.2175G>A
 dbSNP gnomAD v2 gnomAD v4
16g.53652567_53652568delinsCTCA2223265792RPGRIP1Lc.2119_2120delinsAG (p.Ser707=)
n.2543_2544delinsAG
c.2131_2132delinsAG (p.Ser711=)
c.364_365delinsAG (p.Ser122=)
n.2163_2164delinsAG
n.2174_2175delinsAG
16g.53652568T>ACA395916599RPGRIP1Lc.2119A>T (p.Ser707Cys)
n.2543A>T
c.2131A>T (p.Ser711Cys)
c.364A>T (p.Ser122Cys)
n.2163A>T
n.2174A>T
16g.53652568T>CCA395916600RPGRIP1Lc.2119A>G (p.Ser707Gly)
n.2543A>G
c.2131A>G (p.Ser711Gly)
c.364A>G (p.Ser122Gly)
n.2163A>G
n.2174A>G
16g.53652568T>GCA395916601RPGRIP1Lc.2119A>C (p.Ser707Arg)
n.2543A>C
c.2131A>C (p.Ser711Arg)
c.364A>C (p.Ser122Arg)
n.2163A>C
n.2174A>C
16g.53652573dupCA645598419RPGRIP1Lc.2119dup (p.Ser707LysfsTer?)
n.2543dup
c.2131dup (p.Ser711LysfsTer?)
c.364dup (p.Ser122LysfsTer?)
n.2163dup
n.2174dup
 gnomAD v4 COSMIC
16g.53652573delCA622655398RPGRIP1Lc.2119del (p.Ser707AlafsTer10)
n.2543del
c.2131del (p.Ser711AlafsTer10)
c.364del (p.Ser122AlafsTer10)
n.2163del
n.2174del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.53652569T>ACA395916602RPGRIP1Lc.2118A>T (p.Lys706Asn)
n.2542A>T
c.2130A>T (p.Lys710Asn)
c.363A>T (p.Lys121Asn)
n.2162A>T
n.2173A>T
16g.53652569T>CCA495536642RPGRIP1Lc.2118A>G (p.Lys706=)
n.2542A>G
c.2130A>G (p.Lys710=)
c.363A>G (p.Lys121=)
n.2162A>G
n.2173A>G
16g.53652569T>GCA8057638RPGRIP1Lc.2118A>C (p.Lys706Asn)
n.2542A>C
c.2130A>C (p.Lys710Asn)
c.363A>C (p.Lys121Asn)
n.2162A>C
n.2173A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53652569T=CA2223265798RPGRIP1Lc.2118A= (p.Lys706=)
n.2542A=
c.2130A= (p.Lys710=)
c.363A= (p.Lys121=)
n.2162A=
n.2173A=
16g.53652570T>ACA395916603RPGRIP1Lc.2117A>T (p.Lys706Ile)
n.2541A>T
c.2129A>T (p.Lys710Ile)
c.362A>T (p.Lys121Ile)
n.2161A>T
n.2172A>T
16g.53652570T>CCA395916604RPGRIP1Lc.2117A>G (p.Lys706Arg)
n.2541A>G
c.2129A>G (p.Lys710Arg)
c.362A>G (p.Lys121Arg)
n.2161A>G
n.2172A>G
16g.53652570T>GCA395916605RPGRIP1Lc.2117A>C (p.Lys706Thr)
n.2541A>C
c.2129A>C (p.Lys710Thr)
c.362A>C (p.Lys121Thr)
n.2161A>C
n.2172A>C
 ClinVar dbSNP
16g.53652570T=CA2223265802RPGRIP1Lc.2117A= (p.Lys706=)
n.2541A=
c.2129A= (p.Lys710=)
c.362A= (p.Lys121=)
n.2161A=
n.2172A=
16g.53652571T>ACA395916607RPGRIP1Lc.2116A>T (p.Lys706Ter)
n.2540A>T
c.2128A>T (p.Lys710Ter)
c.361A>T (p.Lys121Ter)
n.2160A>T
n.2171A>T
16g.53652571T>CCA395916608RPGRIP1Lc.2116A>G (p.Lys706Glu)
n.2540A>G
c.2128A>G (p.Lys710Glu)
c.361A>G (p.Lys121Glu)
n.2160A>G
n.2171A>G
16g.53652571T>GCA395916606RPGRIP1Lc.2116A>C (p.Lys706Gln)
n.2540A>C
c.2128A>C (p.Lys710Gln)
c.361A>C (p.Lys121Gln)
n.2160A>C
n.2171A>C
16g.53652572T>ACA395916610RPGRIP1Lc.2115A>T (p.Glu705Asp)
n.2539A>T
c.2127A>T (p.Glu709Asp)
c.360A>T (p.Glu120Asp)
n.2159A>T
n.2170A>T
16g.53652572T>CCA495536643RPGRIP1Lc.2115A>G (p.Glu705=)
n.2539A>G
c.2127A>G (p.Glu709=)
c.360A>G (p.Glu120=)
n.2159A>G
n.2170A>G
 ClinVar dbSNP gnomAD v4
16g.53652572T>GCA395916609RPGRIP1Lc.2115A>C (p.Glu705Asp)
n.2539A>C
c.2127A>C (p.Glu709Asp)
c.360A>C (p.Glu120Asp)
n.2159A>C
n.2170A>C
16g.53652572T=CA2223265807RPGRIP1Lc.2115A= (p.Glu705=)
n.2539A=
c.2127A= (p.Glu709=)
c.360A= (p.Glu120=)
n.2159A=
n.2170A=
16g.53652573T>ACA395916613RPGRIP1Lc.2114A>T (p.Glu705Val)
n.2538A>T
c.2126A>T (p.Glu709Val)
c.359A>T (p.Glu120Val)
n.2158A>T
n.2169A>T
16g.53652573T>CCA395916611RPGRIP1Lc.2114A>G (p.Glu705Gly)
n.2538A>G
c.2126A>G (p.Glu709Gly)
c.359A>G (p.Glu120Gly)
n.2158A>G
n.2169A>G
 dbSNP
16g.53652573T>GCA395916612RPGRIP1Lc.2114A>C (p.Glu705Ala)
n.2538A>C
c.2126A>C (p.Glu709Ala)
c.359A>C (p.Glu120Ala)
n.2158A>C
n.2169A>C
16g.53652573T=CA2223265812RPGRIP1Lc.2114A= (p.Glu705=)
n.2538A=
c.2126A= (p.Glu709=)
c.359A= (p.Glu120=)
n.2158A=
n.2169A=
16g.53652574C>ACA395916614RPGRIP1Lc.2113G>T (p.Glu705Ter)
n.2537G>T
c.2125G>T (p.Glu709Ter)
c.358G>T (p.Glu120Ter)
n.2157G>T
n.2168G>T
 dbSNP gnomAD v2 gnomAD v4
16g.53652574C=CA2223265818RPGRIP1Lc.2113G= (p.Glu705=)
n.2537G=
c.2125G= (p.Glu709=)
c.358G= (p.Glu120=)
n.2157G=
n.2168G=
16g.53652574C>GCA395916615RPGRIP1Lc.2113G>C (p.Glu705Gln)
n.2537G>C
c.2125G>C (p.Glu709Gln)
c.358G>C (p.Glu120Gln)
n.2157G>C
n.2168G>C
 gnomAD v4
16g.53652574C>TCA395916616RPGRIP1Lc.2113G>A (p.Glu705Lys)
n.2537G>A
c.2125G>A (p.Glu709Lys)
c.358G>A (p.Glu120Lys)
n.2157G>A
n.2168G>A
16g.53652575A>CCA495536644RPGRIP1Lc.2112T>G (p.Leu704=)
n.2536T>G
c.2124T>G (p.Leu708=)
c.357T>G (p.Leu119=)
n.2156T>G
n.2167T>G
 gnomAD v4
16g.53652575A>GCA495536645RPGRIP1Lc.2112T>C (p.Leu704=)
n.2536T>C
c.2124T>C (p.Leu708=)
c.357T>C (p.Leu119=)
n.2156T>C
n.2167T>C
16g.53652575A>TCA495536646RPGRIP1Lc.2112T>A (p.Leu704=)
n.2536T>A
c.2124T>A (p.Leu708=)
c.357T>A (p.Leu119=)
n.2156T>A
n.2167T>A
16g.53652576A=CA2223265822RPGRIP1Lc.2111T= (p.Leu704=)
n.2535T=
c.2123T= (p.Leu708=)
c.356T= (p.Leu119=)
n.2155T=
n.2166T=
16g.53652576A>CCA395916617RPGRIP1Lc.2111T>G (p.Leu704Arg)
n.2535T>G
c.2123T>G (p.Leu708Arg)
c.356T>G (p.Leu119Arg)
n.2155T>G
n.2166T>G
16g.53652576A>GCA395916618RPGRIP1Lc.2111T>C (p.Leu704Pro)
n.2535T>C
c.2123T>C (p.Leu708Pro)
c.356T>C (p.Leu119Pro)
n.2155T>C
n.2166T>C
 dbSNP gnomAD v2 gnomAD v4
16g.53652576A>TCA395916619RPGRIP1Lc.2111T>A (p.Leu704His)
n.2535T>A
c.2123T>A (p.Leu708His)
c.356T>A (p.Leu119His)
n.2155T>A
n.2166T>A
16g.53652577G>ACA395916620RPGRIP1Lc.2110C>T (p.Leu704Phe)
n.2534C>T
c.2122C>T (p.Leu708Phe)
c.355C>T (p.Leu119Phe)
n.2154C>T
n.2165C>T
16g.53652577G>CCA395916621RPGRIP1Lc.2110C>G (p.Leu704Val)
n.2534C>G
c.2122C>G (p.Leu708Val)
c.355C>G (p.Leu119Val)
n.2154C>G
n.2165C>G
16g.53652577G=CA2223265828RPGRIP1Lc.2110C= (p.Leu704=)
n.2534C=
c.2122C= (p.Leu708=)
c.355C= (p.Leu119=)
n.2154C=
n.2165C=
16g.53652577G>TCA395916622RPGRIP1Lc.2110C>A (p.Leu704Ile)
n.2534C>A
c.2122C>A (p.Leu708Ile)
c.355C>A (p.Leu119Ile)
n.2154C>A
n.2165C>A
 dbSNP gnomAD v3 gnomAD v4
16g.53652578A>CCA395916623RPGRIP1Lc.2109T>G (p.Ile703Met)
n.2533T>G
c.2121T>G (p.Ile707Met)
c.354T>G (p.Ile118Met)
n.2153T>G
n.2164T>G
16g.53652578A>GCA495536647RPGRIP1Lc.2109T>C (p.Ile703=)
n.2533T>C
c.2121T>C (p.Ile707=)
c.354T>C (p.Ile118=)
n.2153T>C
n.2164T>C
16g.53652578A>TCA495536648RPGRIP1Lc.2109T>A (p.Ile703=)
n.2533T>A
c.2121T>A (p.Ile707=)
c.354T>A (p.Ile118=)
n.2153T>A
n.2164T>A
16g.53652579A>CCA395916626RPGRIP1Lc.2108T>G (p.Ile703Ser)
n.2532T>G
c.2120T>G (p.Ile707Ser)
c.353T>G (p.Ile118Ser)
n.2152T>G
n.2163T>G
16g.53652579A>GCA395916624RPGRIP1Lc.2108T>C (p.Ile703Thr)
n.2532T>C
c.2120T>C (p.Ile707Thr)
c.353T>C (p.Ile118Thr)
n.2152T>C
n.2163T>C
16g.53652579A>TCA395916625RPGRIP1Lc.2108T>A (p.Ile703Asn)
n.2532T>A
c.2120T>A (p.Ile707Asn)
c.353T>A (p.Ile118Asn)
n.2152T>A
n.2163T>A
16g.53652580T>ACA395916627RPGRIP1Lc.2107A>T (p.Ile703Phe)
n.2531A>T
c.2119A>T (p.Ile707Phe)
c.352A>T (p.Ile118Phe)
n.2151A>T
n.2162A>T
16g.53652580T>CCA395916628RPGRIP1Lc.2107A>G (p.Ile703Val)
n.2531A>G
c.2119A>G (p.Ile707Val)
c.352A>G (p.Ile118Val)
n.2151A>G
n.2162A>G
16g.53652580T>GCA395916629RPGRIP1Lc.2107A>C (p.Ile703Leu)
n.2531A>C
c.2119A>C (p.Ile707Leu)
c.352A>C (p.Ile118Leu)
n.2151A>C
n.2162A>C
16g.53652581T>ACA395916630RPGRIP1Lc.2106A>T (p.Glu702Asp)
n.2530A>T
c.2118A>T (p.Glu706Asp)
c.351A>T (p.Glu117Asp)
n.2150A>T
n.2161A>T
 gnomAD v4
16g.53652581T>CCA495536649RPGRIP1Lc.2106A>G (p.Glu702=)
n.2530A>G
c.2118A>G (p.Glu706=)
c.351A>G (p.Glu117=)
n.2150A>G
n.2161A>G
 gnomAD v4
16g.53652581T>GCA395916631RPGRIP1Lc.2106A>C (p.Glu702Asp)
n.2530A>C
c.2118A>C (p.Glu706Asp)
c.351A>C (p.Glu117Asp)
n.2150A>C
n.2161A>C
16g.53652582T>ACA395916632RPGRIP1Lc.2105A>T (p.Glu702Val)
n.2529A>T
c.2117A>T (p.Glu706Val)
c.350A>T (p.Glu117Val)
n.2149A>T
n.2160A>T
16g.53652582T>CCA8057639RPGRIP1Lc.2105A>G (p.Glu702Gly)
n.2529A>G
c.2117A>G (p.Glu706Gly)
c.350A>G (p.Glu117Gly)
n.2149A>G
n.2160A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53652582T>GCA395916633RPGRIP1Lc.2105A>C (p.Glu702Ala)
n.2529A>C
c.2117A>C (p.Glu706Ala)
c.350A>C (p.Glu117Ala)
n.2149A>C
n.2160A>C
16g.53652582T=CA2223265830RPGRIP1Lc.2105A= (p.Glu702=)
n.2529A=
c.2117A= (p.Glu706=)
c.350A= (p.Glu117=)
n.2149A=
n.2160A=
16g.53652583C>ACA395916634RPGRIP1Lc.2104G>T (p.Glu702Ter)
n.2528G>T
c.2116G>T (p.Glu706Ter)
c.349G>T (p.Glu117Ter)
n.2148G>T
n.2159G>T
 ClinVar dbSNP gnomAD v4
16g.53652583C=CA2223265837RPGRIP1Lc.2104G= (p.Glu702=)
n.2528G=
c.2116G= (p.Glu706=)
c.349G= (p.Glu117=)
n.2148G=
n.2159G=
16g.53652583C>GCA395916635RPGRIP1Lc.2104G>C (p.Glu702Gln)
n.2528G>C
c.2116G>C (p.Glu706Gln)
c.349G>C (p.Glu117Gln)
n.2148G>C
n.2159G>C
16g.53652583C>TCA281343862RPGRIP1Lc.2104G>A (p.Glu702Lys)
n.2528G>A
c.2116G>A (p.Glu706Lys)
c.349G>A (p.Glu117Lys)
n.2148G>A
n.2159G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.53652584G>ACA8057640RPGRIP1Lc.2103C>T (p.His701=)
n.2527C>T
c.2115C>T (p.His705=)
c.348C>T (p.His116=)
n.2147C>T
n.2158C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53652584G>CCA395916637RPGRIP1Lc.2103C>G (p.His701Gln)
n.2527C>G
c.2115C>G (p.His705Gln)
c.348C>G (p.His116Gln)
n.2147C>G
n.2158C>G
 gnomAD v4
16g.53652584G=CA2223265844RPGRIP1Lc.2103C= (p.His701=)
n.2527C=
c.2115C= (p.His705=)
c.348C= (p.His116=)
n.2147C=
n.2158C=
16g.53652584G>TCA395916636RPGRIP1Lc.2103C>A (p.His701Gln)
n.2527C>A
c.2115C>A (p.His705Gln)
c.348C>A (p.His116Gln)
n.2147C>A
n.2158C>A
16g.53652585T>ACA395916638RPGRIP1Lc.2102A>T (p.His701Leu)
n.2526A>T
c.2114A>T (p.His705Leu)
c.347A>T (p.His116Leu)
n.2146A>T
n.2157A>T
16g.53652585T>CCA395916639RPGRIP1Lc.2102A>G (p.His701Arg)
n.2526A>G
c.2114A>G (p.His705Arg)
c.347A>G (p.His116Arg)
n.2146A>G
n.2157A>G
16g.53652585T>GCA395916640RPGRIP1Lc.2102A>C (p.His701Pro)
n.2526A>C
c.2114A>C (p.His705Pro)
c.347A>C (p.His116Pro)
n.2146A>C
n.2157A>C
16g.53652586G>ACA395916641RPGRIP1Lc.2101C>T (p.His701Tyr)
n.2525C>T
c.2113C>T (p.His705Tyr)
c.346C>T (p.His116Tyr)
n.2145C>T
n.2156C>T
 COSMIC
16g.53652586G>CCA395916642RPGRIP1Lc.2101C>G (p.His701Asp)
n.2525C>G
c.2113C>G (p.His705Asp)
c.346C>G (p.His116Asp)
n.2145C>G
n.2156C>G
16g.53652586G>TCA395916643RPGRIP1Lc.2101C>A (p.His701Asn)
n.2525C>A
c.2113C>A (p.His705Asn)
c.346C>A (p.His116Asn)
n.2145C>A
n.2156C>A
16g.53652587A=CA2223265847RPGRIP1Lc.2100T= (p.Phe700=)
n.2524T=
c.2112T= (p.Phe704=)
c.345T= (p.Phe115=)
n.2144T=
n.2155T=
16g.53652587A>CCA395916644RPGRIP1Lc.2100T>G (p.Phe700Leu)
n.2524T>G
c.2112T>G (p.Phe704Leu)
c.345T>G (p.Phe115Leu)
n.2144T>G
n.2155T>G
16g.53652587A>GCA8057641RPGRIP1Lc.2100T>C (p.Phe700=)
n.2524T>C
c.2112T>C (p.Phe704=)
c.345T>C (p.Phe115=)
n.2144T>C
n.2155T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.53652587A>TCA395916645RPGRIP1Lc.2100T>A (p.Phe700Leu)
n.2524T>A
c.2112T>A (p.Phe704Leu)
c.345T>A (p.Phe115Leu)
n.2144T>A
n.2155T>A
16g.53652588A>CCA395916646RPGRIP1Lc.2099T>G (p.Phe700Cys)
n.2523T>G
c.2111T>G (p.Phe704Cys)
c.344T>G (p.Phe115Cys)
n.2143T>G
n.2154T>G
16g.53652588A>GCA395916647RPGRIP1Lc.2099T>C (p.Phe700Ser)
n.2523T>C
c.2111T>C (p.Phe704Ser)
c.344T>C (p.Phe115Ser)
n.2143T>C
n.2154T>C
16g.53652588A>TCA395916648RPGRIP1Lc.2099T>A (p.Phe700Tyr)
n.2523T>A
c.2111T>A (p.Phe704Tyr)
c.344T>A (p.Phe115Tyr)
n.2143T>A
n.2154T>A
16g.53652589A=CA2223265853RPGRIP1Lc.2098T= (p.Phe700=)
n.2522T=
c.2110T= (p.Phe704=)
c.343T= (p.Phe115=)
n.2142T=
n.2153T=
16g.53652589A>CCA395916650RPGRIP1Lc.2098T>G (p.Phe700Val)
n.2522T>G
c.2110T>G (p.Phe704Val)
c.343T>G (p.Phe115Val)
n.2142T>G
n.2153T>G
16g.53652589A>GCA395916651RPGRIP1Lc.2098T>C (p.Phe700Leu)
n.2522T>C
c.2110T>C (p.Phe704Leu)
c.343T>C (p.Phe115Leu)
n.2142T>C
n.2153T>C
 dbSNP
16g.53652589A>TCA395916649RPGRIP1Lc.2098T>A (p.Phe700Ile)
n.2522T>A
c.2110T>A (p.Phe704Ile)
c.343T>A (p.Phe115Ile)
n.2142T>A
n.2153T>A
16g.53652590T>ACA395916652RPGRIP1Lc.2097A>T (p.Lys699Asn)
n.2521A>T
c.2109A>T (p.Lys703Asn)
c.342A>T (p.Lys114Asn)
n.2141A>T
n.2152A>T
16g.53652590T>CCA495536650RPGRIP1Lc.2097A>G (p.Lys699=)
n.2521A>G
c.2109A>G (p.Lys703=)
c.342A>G (p.Lys114=)
n.2141A>G
n.2152A>G
16g.53652590T>GCA395916653RPGRIP1Lc.2097A>C (p.Lys699Asn)
n.2521A>C
c.2109A>C (p.Lys703Asn)
c.342A>C (p.Lys114Asn)
n.2141A>C
n.2152A>C
16g.53652591T>ACA395916654RPGRIP1Lc.2096A>T (p.Lys699Ile)
n.2520A>T
c.2108A>T (p.Lys703Ile)
c.341A>T (p.Lys114Ile)
n.2140A>T
n.2151A>T
16g.53652591T>CCA395916655RPGRIP1Lc.2096A>G (p.Lys699Arg)
n.2520A>G
c.2108A>G (p.Lys703Arg)
c.341A>G (p.Lys114Arg)
n.2140A>G
n.2151A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.53652591T>GCA281343891RPGRIP1Lc.2096A>C (p.Lys699Thr)
n.2520A>C
c.2108A>C (p.Lys703Thr)
c.341A>C (p.Lys114Thr)
n.2140A>C
n.2151A>C
 ClinVar dbSNP gnomAD v4
16g.53652591T=CA2223265854RPGRIP1Lc.2096A= (p.Lys699=)
n.2520A=
c.2108A= (p.Lys703=)
c.341A= (p.Lys114=)
n.2140A=
n.2151A=
16g.53652592T>ACA395916658RPGRIP1Lc.2095A>T (p.Lys699Ter)
n.2519A>T
c.2107A>T (p.Lys703Ter)
c.340A>T (p.Lys114Ter)
n.2139A>T
n.2150A>T
16g.53652592T>CCA395916657RPGRIP1Lc.2095A>G (p.Lys699Glu)
n.2519A>G
c.2107A>G (p.Lys703Glu)
c.340A>G (p.Lys114Glu)
n.2139A>G
n.2150A>G
16g.53652592T>GCA395916656RPGRIP1Lc.2095A>C (p.Lys699Gln)
n.2519A>C
c.2107A>C (p.Lys703Gln)
c.340A>C (p.Lys114Gln)
n.2139A>C
n.2150A>C
16g.53652594_53652597delCA2580091680RPGRIP1Lc.2092_2095del (p.Leu698AsnfsTer18)
n.2516_2519del
c.2104_2107del (p.Leu702AsnfsTer18)
c.337_340del (p.Leu113AsnfsTer18)
n.2136_2139del
n.2147_2150del
 ClinVar gnomAD v4
16g.53652593T>ACA395916659RPGRIP1Lc.2094A>T (p.Leu698Phe)
n.2518A>T
c.2106A>T (p.Leu702Phe)
c.339A>T (p.Leu113Phe)
n.2138A>T
n.2149A>T
16g.53652593T>CCA495536651RPGRIP1Lc.2094A>G (p.Leu698=)
n.2518A>G
c.2106A>G (p.Leu702=)
c.339A>G (p.Leu113=)
n.2138A>G
n.2149A>G
 gnomAD v4
16g.53652593T>GCA395916660RPGRIP1Lc.2094A>C (p.Leu698Phe)
n.2518A>C
c.2106A>C (p.Leu702Phe)
c.339A>C (p.Leu113Phe)
n.2138A>C
n.2149A>C
16g.53652594A=CA2223265858RPGRIP1Lc.2093T= (p.Leu698=)
n.2517T=
c.2105T= (p.Leu702=)
c.338T= (p.Leu113=)
n.2137T=
n.2148T=
16g.53652594A>CCA8057642RPGRIP1Lc.2093T>G (p.Leu698Ter)
n.2517T>G
c.2105T>G (p.Leu702Ter)
c.338T>G (p.Leu113Ter)
n.2137T>G
n.2148T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.53652594A>GCA395916661RPGRIP1Lc.2093T>C (p.Leu698Ser)
n.2517T>C
c.2105T>C (p.Leu702Ser)
c.338T>C (p.Leu113Ser)
n.2137T>C
n.2148T>C
 gnomAD v4
16g.53652594A>TCA395916662RPGRIP1Lc.2093T>A (p.Leu698Ter)
n.2517T>A
c.2105T>A (p.Leu702Ter)
c.338T>A (p.Leu113Ter)
n.2137T>A
n.2148T>A
16g.53652595A>CCA395916663RPGRIP1Lc.2092T>G (p.Leu698Val)
n.2516T>G
c.2104T>G (p.Leu702Val)
c.337T>G (p.Leu113Val)
n.2136T>G
n.2147T>G
16g.53652595A>GCA495536652RPGRIP1Lc.2092T>C (p.Leu698=)
n.2516T>C
c.2104T>C (p.Leu702=)
c.337T>C (p.Leu113=)
n.2136T>C
n.2147T>C
 gnomAD v4
16g.53652595A>TCA395916664RPGRIP1Lc.2092T>A (p.Leu698Ile)
n.2516T>A
c.2104T>A (p.Leu702Ile)
c.337T>A (p.Leu113Ile)
n.2136T>A
n.2147T>A
16g.53652596T>ACA395916665RPGRIP1Lc.2091A>T (p.Gln697His)
n.2515A>T
c.2103A>T (p.Gln701His)
c.336A>T (p.Gln112His)
n.2135A>T
n.2146A>T
16g.53652596T>CCA495536653RPGRIP1Lc.2091A>G (p.Gln697=)
n.2515A>G
c.2103A>G (p.Gln701=)
c.336A>G (p.Gln112=)
n.2135A>G
n.2146A>G
16g.53652596T>GCA395916666RPGRIP1Lc.2091A>C (p.Gln697His)
n.2515A>C
c.2103A>C (p.Gln701His)
c.336A>C (p.Gln112His)
n.2135A>C
n.2146A>C
16g.53652597T>ACA395916667RPGRIP1Lc.2090A>T (p.Gln697Leu)
n.2514A>T
c.2102A>T (p.Gln701Leu)
c.335A>T (p.Gln112Leu)
n.2134A>T
n.2145A>T
16g.53652597T>CCA395916668RPGRIP1Lc.2090A>G (p.Gln697Arg)
n.2514A>G
c.2102A>G (p.Gln701Arg)
c.335A>G (p.Gln112Arg)
n.2134A>G
n.2145A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.53652597T>GCA395916669RPGRIP1Lc.2090A>C (p.Gln697Pro)
n.2514A>C
c.2102A>C (p.Gln701Pro)
c.335A>C (p.Gln112Pro)
n.2134A>C
n.2145A>C
16g.53652597T=CA2223265866RPGRIP1Lc.2090A= (p.Gln697=)
n.2514A=
c.2102A= (p.Gln701=)
c.335A= (p.Gln112=)
n.2134A=
n.2145A=
16g.53652598G>ACA395916670RPGRIP1Lc.2089C>T (p.Gln697Ter)
n.2513C>T
c.2101C>T (p.Gln701Ter)
c.334C>T (p.Gln112Ter)
n.2133C>T
n.2144C>T
16g.53652598G>CCA395916671RPGRIP1Lc.2089C>G (p.Gln697Glu)
n.2513C>G
c.2101C>G (p.Gln701Glu)
c.334C>G (p.Gln112Glu)
n.2133C>G
n.2144C>G
16g.53652598G>TCA395916672RPGRIP1Lc.2089C>A (p.Gln697Lys)
n.2513C>A
c.2101C>A (p.Gln701Lys)
c.334C>A (p.Gln112Lys)
n.2133C>A
n.2144C>A
 gnomAD v4
16g.53652599A>CCA395916674RPGRIP1Lc.2088T>G (p.Cys696Trp)
n.2512T>G
c.2100T>G (p.Cys700Trp)
c.333T>G (p.Cys111Trp)
n.2132T>G
n.2143T>G
16g.53652599A>GCA495536654RPGRIP1Lc.2088T>C (p.Cys696=)
n.2512T>C
c.2100T>C (p.Cys700=)
c.333T>C (p.Cys111=)
n.2132T>C
n.2143T>C
16g.53652599A>TCA395916673RPGRIP1Lc.2088T>A (p.Cys696Ter)
n.2512T>A
c.2100T>A (p.Cys700Ter)
c.333T>A (p.Cys111Ter)
n.2132T>A
n.2143T>A
16g.53652600C>ACA395916675RPGRIP1Lc.2087G>T (p.Cys696Phe)
n.2511G>T
c.2099G>T (p.Cys700Phe)
c.332G>T (p.Cys111Phe)
n.2131G>T
n.2142G>T
16g.53652600C>GCA395916676RPGRIP1Lc.2087G>C (p.Cys696Ser)
n.2511G>C
c.2099G>C (p.Cys700Ser)
c.332G>C (p.Cys111Ser)
n.2131G>C
n.2142G>C
16g.53652600C>TCA395916677RPGRIP1Lc.2087G>A (p.Cys696Tyr)
n.2511G>A
c.2099G>A (p.Cys700Tyr)
c.332G>A (p.Cys111Tyr)
n.2131G>A
n.2142G>A
16g.53652601A>CCA395916678RPGRIP1Lc.2086T>G (p.Cys696Gly)
n.2510T>G
c.2098T>G (p.Cys700Gly)
c.331T>G (p.Cys111Gly)
n.2130T>G
n.2141T>G
16g.53652601A>GCA395916679RPGRIP1Lc.2086T>C (p.Cys696Arg)
n.2510T>C
c.2098T>C (p.Cys700Arg)
c.331T>C (p.Cys111Arg)
n.2130T>C
n.2141T>C
 gnomAD v4
16g.53652601A>TCA395916680RPGRIP1Lc.2086T>A (p.Cys696Ser)
n.2510T>A
c.2098T>A (p.Cys700Ser)
c.331T>A (p.Cys111Ser)
n.2130T>A
n.2141T>A
16g.53652602T>ACA495536657RPGRIP1Lc.2085A>T (p.Ala695=)
n.2509A>T
c.2097A>T (p.Ala699=)
c.330A>T (p.Ala110=)
n.2129A>T
n.2140A>T
16g.53652602T>CCA495536656RPGRIP1Lc.2085A>G (p.Ala695=)
n.2509A>G
c.2097A>G (p.Ala699=)
c.330A>G (p.Ala110=)
n.2129A>G
n.2140A>G
16g.53652602T>GCA495536655RPGRIP1Lc.2085A>C (p.Ala695=)
n.2509A>C
c.2097A>C (p.Ala699=)
c.330A>C (p.Ala110=)
n.2129A>C
n.2140A>C
16g.53652603G>ACA395916682RPGRIP1Lc.2084C>T (p.Ala695Val)
n.2508C>T
c.2096C>T (p.Ala699Val)
c.329C>T (p.Ala110Val)
n.2128C>T
n.2139C>T
 dbSNP gnomAD v4
16g.53652603G>CCA395916681RPGRIP1Lc.2084C>G (p.Ala695Gly)
n.2508C>G
c.2096C>G (p.Ala699Gly)
c.329C>G (p.Ala110Gly)
n.2128C>G
n.2139C>G
16g.53652603G=CA2223265873RPGRIP1Lc.2084C= (p.Ala695=)
n.2508C=
c.2096C= (p.Ala699=)
c.329C= (p.Ala110=)
n.2128C=
n.2139C=
16g.53652603G>TCA8057643RPGRIP1Lc.2084C>A (p.Ala695Glu)
n.2508C>A
c.2096C>A (p.Ala699Glu)
c.329C>A (p.Ala110Glu)
n.2128C>A
n.2139C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53652603_53652604delinsTTCA2580091682RPGRIP1Lc.2083_2084delinsAA (p.Ala695Lys)
n.2507_2508delinsAA
c.2095_2096delinsAA (p.Ala699Lys)
c.328_329delinsAA (p.Ala110Lys)
n.2127_2128delinsAA
n.2138_2139delinsAA
 ClinVar
16g.53652604C>ACA395916683RPGRIP1Lc.2083G>T (p.Ala695Ser)
n.2507G>T
c.2095G>T (p.Ala699Ser)
c.328G>T (p.Ala110Ser)
n.2127G>T
n.2138G>T
16g.53652604C=CA2223265878RPGRIP1Lc.2083G= (p.Ala695=)
n.2507G=
c.2095G= (p.Ala699=)
c.328G= (p.Ala110=)
n.2127G=
n.2138G=
16g.53652604C>GCA251694RPGRIP1Lc.2083G>C (p.Ala695Pro)
n.2507G>C
c.2095G>C (p.Ala699Pro)
c.328G>C (p.Ala110Pro)
n.2127G>C
n.2138G>C
 ClinVar dbSNP
16g.53652604C>TCA8057644RPGRIP1Lc.2083G>A (p.Ala695Thr)
n.2507G>A
c.2095G>A (p.Ala699Thr)
c.328G>A (p.Ala110Thr)
n.2127G>A
n.2138G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53652605T>ACA495536660RPGRIP1Lc.2082A>T (p.Ala694=)
n.2506A>T
c.2094A>T (p.Ala698=)
c.327A>T (p.Ala109=)
n.2126A>T
n.2137A>T
16g.53652605T>CCA495536659RPGRIP1Lc.2082A>G (p.Ala694=)
n.2506A>G
c.2094A>G (p.Ala698=)
c.327A>G (p.Ala109=)
n.2126A>G
n.2137A>G
 dbSNP
16g.53652605T>GCA495536658RPGRIP1Lc.2082A>C (p.Ala694=)
n.2506A>C
c.2094A>C (p.Ala698=)
c.327A>C (p.Ala109=)
n.2126A>C
n.2137A>C
16g.53652605T=CA2223265884RPGRIP1Lc.2082A= (p.Ala694=)
n.2506A=
c.2094A= (p.Ala698=)
c.327A= (p.Ala109=)
n.2126A=
n.2137A=
16g.53652606G>ACA395916684RPGRIP1Lc.2081C>T (p.Ala694Val)
n.2505C>T
c.2093C>T (p.Ala698Val)
c.326C>T (p.Ala109Val)
n.2125C>T
n.2136C>T
16g.53652606G>CCA395916685RPGRIP1Lc.2081C>G (p.Ala694Gly)
n.2505C>G
c.2093C>G (p.Ala698Gly)
c.326C>G (p.Ala109Gly)
n.2125C>G
n.2136C>G
16g.53652606G>TCA395916686RPGRIP1Lc.2081C>A (p.Ala694Glu)
n.2505C>A
c.2093C>A (p.Ala698Glu)
c.326C>A (p.Ala109Glu)
n.2125C>A
n.2136C>A
16g.53652607C>ACA395916687RPGRIP1Lc.2080G>T (p.Ala694Ser)
n.2504G>T
c.2092G>T (p.Ala698Ser)
c.325G>T (p.Ala109Ser)
n.2124G>T
n.2135G>T
16g.53652607C>GCA395916688RPGRIP1Lc.2080G>C (p.Ala694Pro)
n.2504G>C
c.2092G>C (p.Ala698Pro)
c.325G>C (p.Ala109Pro)
n.2124G>C
n.2135G>C
16g.53652607C>TCA395916689RPGRIP1Lc.2080G>A (p.Ala694Thr)
n.2504G>A
c.2092G>A (p.Ala698Thr)
c.325G>A (p.Ala109Thr)
n.2124G>A
n.2135G>A
16g.53652608A>CCA395916690RPGRIP1Lc.2079T>G (p.Ile693Met)
n.2503T>G
c.2091T>G (p.Ile697Met)
c.324T>G (p.Ile108Met)
n.2123T>G
n.2134T>G
16g.53652608A>GCA495536663RPGRIP1Lc.2079T>C (p.Ile693=)
n.2503T>C
c.2091T>C (p.Ile697=)
c.324T>C (p.Ile108=)
n.2123T>C
n.2134T>C
16g.53652608A>TCA495536662RPGRIP1Lc.2079T>A (p.Ile693=)
n.2503T>A
c.2091T>A (p.Ile697=)
c.324T>A (p.Ile108=)
n.2123T>A
n.2134T>A
16g.53652609A=CA2223265888RPGRIP1Lc.2078T= (p.Ile693=)
n.2502T=
c.2090T= (p.Ile697=)
c.323T= (p.Ile108=)
n.2122T=
n.2133T=
16g.53652609A>CCA395916691RPGRIP1Lc.2078T>G (p.Ile693Ser)
n.2502T>G
c.2090T>G (p.Ile697Ser)
c.323T>G (p.Ile108Ser)
n.2122T>G
n.2133T>G
16g.53652609A>GCA8057645RPGRIP1Lc.2078T>C (p.Ile693Thr)
n.2502T>C
c.2090T>C (p.Ile697Thr)
c.323T>C (p.Ile108Thr)
n.2122T>C
n.2133T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.53652609A>TCA395916692RPGRIP1Lc.2078T>A (p.Ile693Asn)
n.2502T>A
c.2090T>A (p.Ile697Asn)
c.323T>A (p.Ile108Asn)
n.2122T>A
n.2133T>A
16g.53652610T>ACA395916693RPGRIP1Lc.2077A>T (p.Ile693Phe)
n.2501A>T
c.2089A>T (p.Ile697Phe)
c.322A>T (p.Ile108Phe)
n.2121A>T
n.2132A>T
16g.53652610T>CCA8057646RPGRIP1Lc.2077A>G (p.Ile693Val)
n.2501A>G
c.2089A>G (p.Ile697Val)
c.322A>G (p.Ile108Val)
n.2121A>G
n.2132A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.53652610T>GCA395916694RPGRIP1Lc.2077A>C (p.Ile693Leu)
n.2501A>C
c.2089A>C (p.Ile697Leu)
c.322A>C (p.Ile108Leu)
n.2121A>C
n.2132A>C
16g.53652610T=CA2223265891RPGRIP1Lc.2077A= (p.Ile693=)
n.2501A=
c.2089A= (p.Ile697=)
c.322A= (p.Ile108=)
n.2121A=
n.2132A=
16g.53652611T>ACA495536664RPGRIP1Lc.2076A>T (p.Thr692=)
n.2500A>T
c.2088A>T (p.Thr696=)
c.321A>T (p.Thr107=)
n.2120A>T
n.2131A>T
16g.53652611T>CCA8057647RPGRIP1Lc.2076A>G (p.Thr692=)
n.2500A>G
c.2088A>G (p.Thr696=)
c.321A>G (p.Thr107=)
n.2120A>G
n.2131A>G
 dbSNP ExAC
16g.53652611T>GCA495536665RPGRIP1Lc.2076A>C (p.Thr692=)
n.2500A>C
c.2088A>C (p.Thr696=)
c.321A>C (p.Thr107=)
n.2120A>C
n.2131A>C
16g.53652611T=CA2223265894RPGRIP1Lc.2076A= (p.Thr692=)
n.2500A=
c.2088A= (p.Thr696=)
c.321A= (p.Thr107=)
n.2120A=
n.2131A=
16g.53652612G>ACA395916695RPGRIP1Lc.2075C>T (p.Thr692Ile)
n.2499C>T
c.2087C>T (p.Thr696Ile)
c.320C>T (p.Thr107Ile)
n.2119C>T
n.2130C>T
 gnomAD v4
16g.53652612G>CCA395916696RPGRIP1Lc.2075C>G (p.Thr692Arg)
n.2499C>G
c.2087C>G (p.Thr696Arg)
c.320C>G (p.Thr107Arg)
n.2119C>G
n.2130C>G
16g.53652612G>TCA395916697RPGRIP1Lc.2075C>A (p.Thr692Lys)
n.2499C>A
c.2087C>A (p.Thr696Lys)
c.320C>A (p.Thr107Lys)
n.2119C>A
n.2130C>A
16g.53652613T>ACA395916698RPGRIP1Lc.2074A>T (p.Thr692Ser)
n.2498A>T
c.2086A>T (p.Thr696Ser)
c.319A>T (p.Thr107Ser)
n.2118A>T
n.2129A>T
16g.53652613T>CCA395916699RPGRIP1Lc.2074A>G (p.Thr692Ala)
n.2498A>G
c.2086A>G (p.Thr696Ala)
c.319A>G (p.Thr107Ala)
n.2118A>G
n.2129A>G
16g.53652613T>GCA395916700RPGRIP1Lc.2074A>C (p.Thr692Pro)
n.2498A>C
c.2086A>C (p.Thr696Pro)
c.319A>C (p.Thr107Pro)
n.2118A>C
n.2129A>C
 dbSNP gnomAD v2 gnomAD v4
16g.53652613T=CA2223265899RPGRIP1Lc.2074A= (p.Thr692=)
n.2498A=
c.2086A= (p.Thr696=)
c.319A= (p.Thr107=)
n.2118A=
n.2129A=
16g.53652614T>ACA395916701RPGRIP1Lc.2073A>T (p.Glu691Asp)
n.2497A>T
c.2085A>T (p.Glu695Asp)
c.318A>T (p.Glu106Asp)
n.2117A>T
n.2128A>T
16g.53652614T>CCA495536666RPGRIP1Lc.2073A>G (p.Glu691=)
n.2497A>G
c.2085A>G (p.Glu695=)
c.318A>G (p.Glu106=)
n.2117A>G
n.2128A>G
16g.53652614T>GCA395916702RPGRIP1Lc.2073A>C (p.Glu691Asp)
n.2497A>C
c.2085A>C (p.Glu695Asp)
c.318A>C (p.Glu106Asp)
n.2117A>C
n.2128A>C
16g.53652615T>ACA395916703RPGRIP1Lc.2072A>T (p.Glu691Val)
n.2496A>T
c.2084A>T (p.Glu695Val)
c.317A>T (p.Glu106Val)
n.2116A>T
n.2127A>T
16g.53652615T>CCA395916704RPGRIP1Lc.2072A>G (p.Glu691Gly)
n.2496A>G
c.2084A>G (p.Glu695Gly)
c.317A>G (p.Glu106Gly)
n.2116A>G
n.2127A>G
16g.53652615T>GCA395916705RPGRIP1Lc.2072A>C (p.Glu691Ala)
n.2496A>C
c.2084A>C (p.Glu695Ala)
c.317A>C (p.Glu106Ala)
n.2116A>C
n.2127A>C
16g.53652616C>ACA395916708RPGRIP1Lc.2071G>T (p.Glu691Ter)
n.2495G>T
c.2083G>T (p.Glu695Ter)
c.316G>T (p.Glu106Ter)
n.2115G>T
n.2126G>T
16g.53652616C=CA2223265907RPGRIP1Lc.2071G= (p.Glu691=)
n.2495G=
c.2083G= (p.Glu695=)
c.316G= (p.Glu106=)
n.2115G=
n.2126G=
16g.53652616C>GCA395916707RPGRIP1Lc.2071G>C (p.Glu691Gln)
n.2495G>C
c.2083G>C (p.Glu695Gln)
c.316G>C (p.Glu106Gln)
n.2115G>C
n.2126G>C
 dbSNP
16g.53652616C>TCA395916706RPGRIP1Lc.2071G>A (p.Glu691Lys)
n.2495G>A
c.2083G>A (p.Glu695Lys)
c.316G>A (p.Glu106Lys)
n.2115G>A
n.2126G>A
 dbSNP gnomAD v4
16g.53652617A=CA2223265912RPGRIP1Lc.2070T= (p.Tyr690=)
n.2494T=
c.2082T= (p.Tyr694=)
c.315T= (p.Tyr105=)
n.2114T=
n.2125T=
16g.53652617A>CCA395916709RPGRIP1Lc.2070T>G (p.Tyr690Ter)
n.2494T>G
c.2082T>G (p.Tyr694Ter)
c.315T>G (p.Tyr105Ter)
n.2114T>G
n.2125T>G
16g.53652617A>GCA495536668RPGRIP1Lc.2070T>C (p.Tyr690=)
n.2494T>C
c.2082T>C (p.Tyr694=)
c.315T>C (p.Tyr105=)
n.2114T>C
n.2125T>C
 ClinVar dbSNP gnomAD v2
16g.53652617A>TCA395916710RPGRIP1Lc.2070T>A (p.Tyr690Ter)
n.2494T>A
c.2082T>A (p.Tyr694Ter)
c.315T>A (p.Tyr105Ter)
n.2114T>A
n.2125T>A
16g.53652618T>ACA395916711RPGRIP1Lc.2069A>T (p.Tyr690Phe)
n.2493A>T
c.2081A>T (p.Tyr694Phe)
c.314A>T (p.Tyr105Phe)
n.2113A>T
n.2124A>T
16g.53652618T>CCA395916712RPGRIP1Lc.2069A>G (p.Tyr690Cys)
n.2493A>G
c.2081A>G (p.Tyr694Cys)
c.314A>G (p.Tyr105Cys)
n.2113A>G
n.2124A>G
 dbSNP gnomAD v2 gnomAD v4
16g.53652618T>GCA395916713RPGRIP1Lc.2069A>C (p.Tyr690Ser)
n.2493A>C
c.2081A>C (p.Tyr694Ser)
c.314A>C (p.Tyr105Ser)
n.2113A>C
n.2124A>C
16g.53652618T=CA2223265917RPGRIP1Lc.2069A= (p.Tyr690=)
n.2493A=
c.2081A= (p.Tyr694=)
c.314A= (p.Tyr105=)
n.2113A=
n.2124A=
16g.53652619A>CCA395916714RPGRIP1Lc.2068T>G (p.Tyr690Asp)
n.2492T>G
c.2080T>G (p.Tyr694Asp)
c.313T>G (p.Tyr105Asp)
n.2112T>G
n.2123T>G
16g.53652619A>GCA395916715RPGRIP1Lc.2068T>C (p.Tyr690His)
n.2492T>C
c.2080T>C (p.Tyr694His)
c.313T>C (p.Tyr105His)
n.2112T>C
n.2123T>C
16g.53652619A>TCA395916716RPGRIP1Lc.2068T>A (p.Tyr690Asn)
n.2492T>A
c.2080T>A (p.Tyr694Asn)
c.313T>A (p.Tyr105Asn)
n.2112T>A
n.2123T>A
16g.53652620T>ACA395916717RPGRIP1Lc.2067A>T (p.Glu689Asp)
n.2491A>T
c.2079A>T (p.Glu693Asp)
c.312A>T (p.Glu104Asp)
n.2111A>T
n.2122A>T
16g.53652620T>CCA281343913RPGRIP1Lc.2067A>G (p.Glu689=)
n.2491A>G
c.2079A>G (p.Glu693=)
c.312A>G (p.Glu104=)
n.2111A>G
n.2122A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.53652620T>GCA395916718RPGRIP1Lc.2067A>C (p.Glu689Asp)
n.2491A>C
c.2079A>C (p.Glu693Asp)
c.312A>C (p.Glu104Asp)
n.2111A>C
n.2122A>C
16g.53652620T=CA2223265922RPGRIP1Lc.2067A= (p.Glu689=)
n.2491A=
c.2079A= (p.Glu693=)
c.312A= (p.Glu104=)
n.2111A=
n.2122A=
16g.53652621T>ACA395916719RPGRIP1Lc.2066A>T (p.Glu689Val)
n.2490A>T
c.2078A>T (p.Glu693Val)
c.311A>T (p.Glu104Val)
n.2110A>T
n.2121A>T
16g.53652621T>CCA395916720RPGRIP1Lc.2066A>G (p.Glu689Gly)
n.2490A>G
c.2078A>G (p.Glu693Gly)
c.311A>G (p.Glu104Gly)
n.2110A>G
n.2121A>G
16g.53652621T>GCA395916721RPGRIP1Lc.2066A>C (p.Glu689Ala)
n.2490A>C
c.2078A>C (p.Glu693Ala)
c.311A>C (p.Glu104Ala)
n.2110A>C
n.2121A>C
 dbSNP gnomAD v3 gnomAD v4
16g.53652621T=CA2223265926RPGRIP1Lc.2066A= (p.Glu689=)
n.2490A=
c.2078A= (p.Glu693=)
c.311A= (p.Glu104=)
n.2110A=
n.2121A=
16g.53652622C>ACA395916723RPGRIP1Lc.2065G>T (p.Glu689Ter)
n.2489G>T
c.2077G>T (p.Glu693Ter)
c.310G>T (p.Glu104Ter)
n.2109G>T
n.2120G>T
16g.53652622C>GCA395916724RPGRIP1Lc.2065G>C (p.Glu689Gln)
n.2489G>C
c.2077G>C (p.Glu693Gln)
c.310G>C (p.Glu104Gln)
n.2109G>C
n.2120G>C
16g.53652622C>TCA395916722RPGRIP1Lc.2065G>A (p.Glu689Lys)
n.2489G>A
c.2077G>A (p.Glu693Lys)
c.310G>A (p.Glu104Lys)
n.2109G>A
n.2120G>A
16g.53652623T>ACA495536678RPGRIP1Lc.2064A>T (p.Thr688=)
n.2488A>T
c.2076A>T (p.Thr692=)
c.309A>T (p.Thr103=)
n.2108A>T
n.2119A>T
16g.53652623T>CCA495536679RPGRIP1Lc.2064A>G (p.Thr688=)
n.2488A>G
c.2076A>G (p.Thr692=)
c.309A>G (p.Thr103=)
n.2108A>G
n.2119A>G
 ClinVar
16g.53652623T>GCA495536677RPGRIP1Lc.2064A>C (p.Thr688=)
n.2488A>C
c.2076A>C (p.Thr692=)
c.309A>C (p.Thr103=)
n.2108A>C
n.2119A>C
16g.53652624G>ACA395916726RPGRIP1Lc.2063C>T (p.Thr688Ile)
n.2487C>T
c.2075C>T (p.Thr692Ile)
c.308C>T (p.Thr103Ile)
n.2107C>T
n.2118C>T
 gnomAD v4
16g.53652624G>CCA395916725RPGRIP1Lc.2063C>G (p.Thr688Arg)
n.2487C>G
c.2075C>G (p.Thr692Arg)
c.308C>G (p.Thr103Arg)
n.2107C>G
n.2118C>G
 dbSNP gnomAD v3 gnomAD v4
16g.53652624G>TCA395916727RPGRIP1Lc.2063C>A (p.Thr688Lys)
n.2487C>A
c.2075C>A (p.Thr692Lys)
c.308C>A (p.Thr103Lys)
n.2107C>A
n.2118C>A
16g.53652625T>ACA395916728RPGRIP1Lc.2062A>T (p.Thr688Ser)
n.2486A>T
c.2074A>T (p.Thr692Ser)
c.307A>T (p.Thr103Ser)
n.2106A>T
n.2117A>T
16g.53652625T>CCA395916730RPGRIP1Lc.2062A>G (p.Thr688Ala)
n.2486A>G
c.2074A>G (p.Thr692Ala)
c.307A>G (p.Thr103Ala)
n.2106A>G
n.2117A>G
 gnomAD v4
16g.53652625T>GCA395916729RPGRIP1Lc.2062A>C (p.Thr688Pro)
n.2486A>C
c.2074A>C (p.Thr692Pro)
c.307A>C (p.Thr103Pro)
n.2106A>C
n.2117A>C
16g.53652625_53652632delinsTGCTATAACA2223265931RPGRIP1Lc.2055_2062delinsTTATAGCA (p.Ala685=)
n.2479_2486delinsTTATAGCA
c.2067_2074delinsTTATAGCA (p.Ala689=)
c.300_307delinsTTATAGCA (p.Ala100=)
n.2099_2106delinsTTATAGCA
n.2110_2117delinsTTATAGCA
16g.53652626G>ACA495536681RPGRIP1Lc.2061C>T (p.Ser687=)
n.2485C>T
c.2073C>T (p.Ser691=)
c.306C>T (p.Ser102=)
n.2105C>T
n.2116C>T
16g.53652626G>CCA395916731RPGRIP1Lc.2061C>G (p.Ser687Arg)
n.2485C>G
c.2073C>G (p.Ser691Arg)
c.306C>G (p.Ser102Arg)
n.2105C>G
n.2116C>G
16g.53652626G>TCA395916732RPGRIP1Lc.2061C>A (p.Ser687Arg)
n.2485C>A
c.2073C>A (p.Ser691Arg)
c.306C>A (p.Ser102Arg)
n.2105C>A
n.2116C>A
16g.53652628_53652634delCA8057648RPGRIP1Lc.2055_2061del (p.Tyr686GlnfsTer11)
n.2479_2485del
c.2067_2073del (p.Tyr690GlnfsTer11)
c.300_306del (p.Tyr101GlnfsTer11)
n.2099_2105del
n.2110_2116del
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.53652627C>ACA395916733RPGRIP1Lc.2060G>T (p.Ser687Ile)
n.2484G>T
c.2072G>T (p.Ser691Ile)
c.305G>T (p.Ser102Ile)
n.2104G>T
n.2115G>T
16g.53652627C>GCA395916735RPGRIP1Lc.2060G>C (p.Ser687Thr)
n.2484G>C
c.2072G>C (p.Ser691Thr)
c.305G>C (p.Ser102Thr)
n.2104G>C
n.2115G>C
16g.53652627C>TCA395916734RPGRIP1Lc.2060G>A (p.Ser687Asn)
n.2484G>A
c.2072G>A (p.Ser691Asn)
c.305G>A (p.Ser102Asn)
n.2104G>A
n.2115G>A
 gnomAD v4
16g.53652628T>ACA395916736RPGRIP1Lc.2059A>T (p.Ser687Cys)
n.2483A>T
c.2071A>T (p.Ser691Cys)
c.304A>T (p.Ser102Cys)
n.2103A>T
n.2114A>T
 COSMIC
16g.53652628T>CCA395916737RPGRIP1Lc.2059A>G (p.Ser687Gly)
n.2483A>G
c.2071A>G (p.Ser691Gly)
c.304A>G (p.Ser102Gly)
n.2103A>G
n.2114A>G
16g.53652628T>GCA395916738RPGRIP1Lc.2059A>C (p.Ser687Arg)
n.2483A>C
c.2071A>C (p.Ser691Arg)
c.304A>C (p.Ser102Arg)
n.2103A>C
n.2114A>C
16g.53652629A=CA2223265937RPGRIP1Lc.2058T= (p.Tyr686=)
n.2482T=
c.2070T= (p.Tyr690=)
c.303T= (p.Tyr101=)
n.2102T=
n.2113T=
16g.53652629A>CCA395916739RPGRIP1Lc.2058T>G (p.Tyr686Ter)
n.2482T>G
c.2070T>G (p.Tyr690Ter)
c.303T>G (p.Tyr101Ter)
n.2102T>G
n.2113T>G
16g.53652629A>GCA8057649RPGRIP1Lc.2058T>C (p.Tyr686=)
n.2482T>C
c.2070T>C (p.Tyr690=)
c.303T>C (p.Tyr101=)
n.2102T>C
n.2113T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.53652629A>TCA395916740RPGRIP1Lc.2058T>A (p.Tyr686Ter)
n.2482T>A
c.2070T>A (p.Tyr690Ter)
c.303T>A (p.Tyr101Ter)
n.2102T>A
n.2113T>A
16g.53652630T>ACA395916741RPGRIP1Lc.2057A>T (p.Tyr686Phe)
n.2481A>T
c.2069A>T (p.Tyr690Phe)
c.302A>T (p.Tyr101Phe)
n.2101A>T
n.2112A>T
16g.53652630T>CCA395916742RPGRIP1Lc.2057A>G (p.Tyr686Cys)
n.2481A>G
c.2069A>G (p.Tyr690Cys)
c.302A>G (p.Tyr101Cys)
n.2101A>G
n.2112A>G
16g.53652630T>GCA395916743RPGRIP1Lc.2057A>C (p.Tyr686Ser)
n.2481A>C
c.2069A>C (p.Tyr690Ser)
c.302A>C (p.Tyr101Ser)
n.2101A>C
n.2112A>C
16g.53652630_53652631insTACA2573152389RPGRIP1Lc.2056_2057insTA (p.Tyr686LeufsTer14)
n.2480_2481insTA
c.2068_2069insTA (p.Tyr690LeufsTer14)
c.301_302insTA (p.Tyr101LeufsTer14)
n.2100_2101insTA
n.2111_2112insTA
 dbSNP
16g.53652631A>CCA395916746RPGRIP1Lc.2056T>G (p.Tyr686Asp)
n.2480T>G
c.2068T>G (p.Tyr690Asp)
c.301T>G (p.Tyr101Asp)
n.2100T>G
n.2111T>G
16g.53652631A>GCA395916745RPGRIP1Lc.2056T>C (p.Tyr686His)
n.2480T>C
c.2068T>C (p.Tyr690His)
c.301T>C (p.Tyr101His)
n.2100T>C
n.2111T>C
16g.53652631A>TCA395916744RPGRIP1Lc.2056T>A (p.Tyr686Asn)
n.2480T>A
c.2068T>A (p.Tyr690Asn)
c.301T>A (p.Tyr101Asn)
n.2100T>A
n.2111T>A
16g.53652632A>CCA495536687RPGRIP1Lc.2055T>G (p.Ala685=)
n.2479T>G
c.2067T>G (p.Ala689=)
c.300T>G (p.Ala100=)
n.2099T>G
n.2110T>G
 gnomAD v4
16g.53652632A>GCA495536688RPGRIP1Lc.2055T>C (p.Ala685=)
n.2479T>C
c.2067T>C (p.Ala689=)
c.300T>C (p.Ala100=)
n.2099T>C
n.2110T>C
16g.53652632A>TCA495536689RPGRIP1Lc.2055T>A (p.Ala685=)
n.2479T>A
c.2067T>A (p.Ala689=)
c.300T>A (p.Ala100=)
n.2099T>A
n.2110T>A
16g.53652633G>ACA395916747RPGRIP1Lc.2054C>T (p.Ala685Val)
n.2478C>T
c.2066C>T (p.Ala689Val)
c.299C>T (p.Ala100Val)
n.2098C>T
n.2109C>T
 gnomAD v4
16g.53652633G>CCA395916748RPGRIP1Lc.2054C>G (p.Ala685Gly)
n.2478C>G
c.2066C>G (p.Ala689Gly)
c.299C>G (p.Ala100Gly)
n.2098C>G
n.2109C>G
16g.53652633G>TCA395916749RPGRIP1Lc.2054C>A (p.Ala685Asp)
n.2478C>A
c.2066C>A (p.Ala689Asp)
c.299C>A (p.Ala100Asp)
n.2098C>A
n.2109C>A
16g.53652634C>ACA395916750RPGRIP1Lc.2053G>T (p.Ala685Ser)
n.2477G>T
c.2065G>T (p.Ala689Ser)
c.298G>T (p.Ala100Ser)
n.2097G>T
n.2108G>T
16g.53652634C>GCA395916751RPGRIP1Lc.2053G>C (p.Ala685Pro)
n.2477G>C
c.2065G>C (p.Ala689Pro)
c.298G>C (p.Ala100Pro)
n.2097G>C
n.2108G>C
16g.53652634C>TCA395916752RPGRIP1Lc.2053G>A (p.Ala685Thr)
n.2477G>A
c.2065G>A (p.Ala689Thr)
c.298G>A (p.Ala100Thr)
n.2097G>A
n.2108G>A
 gnomAD v4
16g.53652635C>ACA395916753RPGRIP1Lc.2052G>T (p.Gln684His)
n.2476G>T
c.2064G>T (p.Gln688His)
c.297G>T (p.Gln99His)
n.2096G>T
n.2107G>T
16g.53652635C>GCA395916754RPGRIP1Lc.2052G>C (p.Gln684His)
n.2476G>C
c.2064G>C (p.Gln688His)
c.297G>C (p.Gln99His)
n.2096G>C
n.2107G>C
16g.53652635C>TCA495536691RPGRIP1Lc.2052G>A (p.Gln684=)
n.2476G>A
c.2064G>A (p.Gln688=)
c.297G>A (p.Gln99=)
n.2096G>A
n.2107G>A
16g.53652636T>ACA395916755RPGRIP1Lc.2051A>T (p.Gln684Leu)
n.2475A>T
c.2063A>T (p.Gln688Leu)
c.296A>T (p.Gln99Leu)
n.2095A>T
n.2106A>T
 dbSNP
16g.53652636T>CCA395916756RPGRIP1Lc.2051A>G (p.Gln684Arg)
n.2475A>G
c.2063A>G (p.Gln688Arg)
c.296A>G (p.Gln99Arg)
n.2095A>G
n.2106A>G
 COSMIC
16g.53652636T>GCA395916757RPGRIP1Lc.2051A>C (p.Gln684Pro)
n.2475A>C
c.2063A>C (p.Gln688Pro)
c.296A>C (p.Gln99Pro)
n.2095A>C
n.2106A>C
16g.53652636T=CA2223265939RPGRIP1Lc.2051A= (p.Gln684=)
n.2475A=
c.2063A= (p.Gln688=)
c.296A= (p.Gln99=)
n.2095A=
n.2106A=
16g.53652637G>ACA251696RPGRIP1Lc.2050C>T (p.Gln684Ter)
n.2474C>T
c.2062C>T (p.Gln688Ter)
c.295C>T (p.Gln99Ter)
n.2094C>T
n.2105C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53652637G>CCA395916759RPGRIP1Lc.2050C>G (p.Gln684Glu)
n.2474C>G
c.2062C>G (p.Gln688Glu)
c.295C>G (p.Gln99Glu)
n.2094C>G
n.2105C>G
16g.53652637G=CA2223265944RPGRIP1Lc.2050C= (p.Gln684=)
n.2474C=
c.2062C= (p.Gln688=)
c.295C= (p.Gln99=)
n.2094C=
n.2105C=
16g.53652637G>TCA395916758RPGRIP1Lc.2050C>A (p.Gln684Lys)
n.2474C>A
c.2062C>A (p.Gln688Lys)
c.295C>A (p.Gln99Lys)
n.2094C>A
n.2105C>A

Number of alleles fetched