Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.53652534_53652538delinsCCAAT | CA2223265725 | RPGRIP1L | c.2149_2152+1delinsATTGG n.2573_2576+1delinsATTGG c.2161_2164+1delinsATTGG c.394_397+1delinsATTGG n.2193_2196+1delinsATTGG n.2204_2207+1delinsATTGG | |
16 | g.53652538_53652541del | CA8057631 | RPGRIP1L | c.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 |
16 | g.53652537A= | CA2223265730 | RPGRIP1L | c.2150T= (p.Ile717=) n.2574T= c.2162T= (p.Ile721=) c.395T= (p.Ile132=) n.2194T= n.2205T= | |
16 | g.53652537A>C | CA395916535 | RPGRIP1L | c.2150T>G (p.Ile717Ser) n.2574T>G c.2162T>G (p.Ile721Ser) c.395T>G (p.Ile132Ser) n.2194T>G n.2205T>G | |
16 | g.53652537A>G | CA395916536 | RPGRIP1L | c.2150T>C (p.Ile717Thr) n.2574T>C c.2162T>C (p.Ile721Thr) c.395T>C (p.Ile132Thr) n.2194T>C n.2205T>C | dbSNP |
16 | g.53652537A>T | CA395916537 | RPGRIP1L | c.2150T>A (p.Ile717Asn) n.2574T>A c.2162T>A (p.Ile721Asn) c.395T>A (p.Ile132Asn) n.2194T>A n.2205T>A | |
16 | g.53652538T>A | CA395916540 | RPGRIP1L | c.2149A>T (p.Ile717Phe) n.2573A>T c.2161A>T (p.Ile721Phe) c.394A>T (p.Ile132Phe) n.2193A>T n.2204A>T | |
16 | g.53652538T>C | CA395916539 | RPGRIP1L | c.2149A>G (p.Ile717Val) n.2573A>G c.2161A>G (p.Ile721Val) c.394A>G (p.Ile132Val) n.2193A>G n.2204A>G | |
16 | g.53652538T>G | CA395916538 | RPGRIP1L | c.2149A>C (p.Ile717Leu) n.2573A>C c.2161A>C (p.Ile721Leu) c.394A>C (p.Ile132Leu) n.2193A>C n.2204A>C | |
16 | g.53652539C>A | CA395916541 | RPGRIP1L | c.2148G>T (p.Leu716Phe) n.2572G>T c.2160G>T (p.Leu720Phe) c.393G>T (p.Leu131Phe) n.2192G>T n.2203G>T | dbSNP |
16 | g.53652539C>G | CA395916542 | RPGRIP1L | c.2148G>C (p.Leu716Phe) n.2572G>C c.2160G>C (p.Leu720Phe) c.393G>C (p.Leu131Phe) n.2192G>C n.2203G>C | |
16 | g.53652539C>T | CA495536622 | RPGRIP1L | c.2148G>A (p.Leu716=) n.2572G>A c.2160G>A (p.Leu720=) c.393G>A (p.Leu131=) n.2192G>A n.2203G>A | |
16 | g.53652540A>C | CA395916543 | RPGRIP1L | c.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 |
16 | g.53652540A>G | CA395916544 | RPGRIP1L | c.2147T>C (p.Leu716Ser) n.2571T>C c.2159T>C (p.Leu720Ser) c.392T>C (p.Leu131Ser) n.2191T>C n.2202T>C | |
16 | g.53652540A>T | CA395916545 | RPGRIP1L | c.2147T>A (p.Leu716Ter) n.2571T>A c.2159T>A (p.Leu720Ter) c.392T>A (p.Leu131Ter) n.2191T>A n.2202T>A | |
16 | g.53652541A>C | CA395916546 | RPGRIP1L | c.2146T>G (p.Leu716Val) n.2570T>G c.2158T>G (p.Leu720Val) c.391T>G (p.Leu131Val) n.2190T>G n.2201T>G | |
16 | g.53652541A>G | CA495536623 | RPGRIP1L | c.2146T>C (p.Leu716=) n.2570T>C c.2158T>C (p.Leu720=) c.391T>C (p.Leu131=) n.2190T>C n.2201T>C | |
16 | g.53652541A>T | CA395916547 | RPGRIP1L | c.2146T>A (p.Leu716Met) n.2570T>A c.2158T>A (p.Leu720Met) c.391T>A (p.Leu131Met) n.2190T>A n.2201T>A | |
16 | g.53652542A>C | CA395916548 | RPGRIP1L | c.2145T>G (p.Ser715Arg) n.2569T>G c.2157T>G (p.Ser719Arg) c.390T>G (p.Ser130Arg) n.2189T>G n.2200T>G | |
16 | g.53652542A>G | CA495536624 | RPGRIP1L | c.2145T>C (p.Ser715=) n.2569T>C c.2157T>C (p.Ser719=) c.390T>C (p.Ser130=) n.2189T>C n.2200T>C | ClinVar |
16 | g.53652542A>T | CA395916549 | RPGRIP1L | c.2145T>A (p.Ser715Arg) n.2569T>A c.2157T>A (p.Ser719Arg) c.390T>A (p.Ser130Arg) n.2189T>A n.2200T>A | |
16 | g.53652543C>A | CA395916550 | RPGRIP1L | c.2144G>T (p.Ser715Ile) n.2568G>T c.2156G>T (p.Ser719Ile) c.389G>T (p.Ser130Ile) n.2188G>T n.2199G>T | |
16 | g.53652543C>G | CA395916551 | RPGRIP1L | c.2144G>C (p.Ser715Thr) n.2568G>C c.2156G>C (p.Ser719Thr) c.389G>C (p.Ser130Thr) n.2188G>C n.2199G>C | |
16 | g.53652543C>T | CA395916552 | RPGRIP1L | c.2144G>A (p.Ser715Asn) n.2568G>A c.2156G>A (p.Ser719Asn) c.389G>A (p.Ser130Asn) n.2188G>A n.2199G>A | |
16 | g.53652544T>A | CA395916554 | RPGRIP1L | c.2143A>T (p.Ser715Cys) n.2567A>T c.2155A>T (p.Ser719Cys) c.388A>T (p.Ser130Cys) n.2187A>T n.2198A>T | |
16 | g.53652544T>C | CA395916555 | RPGRIP1L | c.2143A>G (p.Ser715Gly) n.2567A>G c.2155A>G (p.Ser719Gly) c.388A>G (p.Ser130Gly) n.2187A>G n.2198A>G | |
16 | g.53652544T>G | CA395916553 | RPGRIP1L | c.2143A>C (p.Ser715Arg) n.2567A>C c.2155A>C (p.Ser719Arg) c.388A>C (p.Ser130Arg) n.2187A>C n.2198A>C | |
16 | g.53652545T>A | CA495536625 | RPGRIP1L | c.2142A>T (p.Ala714=) n.2566A>T c.2154A>T (p.Ala718=) c.387A>T (p.Ala129=) n.2186A>T n.2197A>T | |
16 | g.53652545T>C | CA495536626 | RPGRIP1L | c.2142A>G (p.Ala714=) n.2566A>G c.2154A>G (p.Ala718=) c.387A>G (p.Ala129=) n.2186A>G n.2197A>G | |
16 | g.53652545T>G | CA495536627 | RPGRIP1L | c.2142A>C (p.Ala714=) n.2566A>C c.2154A>C (p.Ala718=) c.387A>C (p.Ala129=) n.2186A>C n.2197A>C | |
16 | g.53652546G>A | CA395916556 | RPGRIP1L | c.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 |
16 | g.53652546G>C | CA395916557 | RPGRIP1L | c.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 |
16 | g.53652546G= | CA2223265735 | RPGRIP1L | c.2141C= (p.Ala714=) n.2565C= c.2153C= (p.Ala718=) c.386C= (p.Ala129=) n.2185C= n.2196C= | |
16 | g.53652546G>T | CA395916558 | RPGRIP1L | c.2141C>A (p.Ala714Glu) n.2565C>A c.2153C>A (p.Ala718Glu) c.386C>A (p.Ala129Glu) n.2185C>A n.2196C>A | |
16 | g.53652547C>A | CA395916559 | RPGRIP1L | c.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 |
16 | g.53652547C>G | CA395916560 | RPGRIP1L | c.2140G>C (p.Ala714Pro) n.2564G>C c.2152G>C (p.Ala718Pro) c.385G>C (p.Ala129Pro) n.2184G>C n.2195G>C | |
16 | g.53652547C>T | CA395916561 | RPGRIP1L | c.2140G>A (p.Ala714Thr) n.2564G>A c.2152G>A (p.Ala718Thr) c.385G>A (p.Ala129Thr) n.2184G>A n.2195G>A | |
16 | g.53652548T>A | CA495536628 | RPGRIP1L | c.2139A>T (p.Thr713=) n.2563A>T c.2151A>T (p.Thr717=) c.384A>T (p.Thr128=) n.2183A>T n.2194A>T | COSMIC |
16 | g.53652548T>C | CA495536629 | RPGRIP1L | c.2139A>G (p.Thr713=) n.2563A>G c.2151A>G (p.Thr717=) c.384A>G (p.Thr128=) n.2183A>G n.2194A>G | |
16 | g.53652548T>G | CA495536630 | RPGRIP1L | c.2139A>C (p.Thr713=) n.2563A>C c.2151A>C (p.Thr717=) c.384A>C (p.Thr128=) n.2183A>C n.2194A>C | |
16 | g.53652549G>A | CA281343818 | RPGRIP1L | c.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 |
16 | g.53652549G>C | CA395916562 | RPGRIP1L | c.2138C>G (p.Thr713Arg) n.2562C>G c.2150C>G (p.Thr717Arg) c.383C>G (p.Thr128Arg) n.2182C>G n.2193C>G | |
16 | g.53652549G= | CA2223265741 | RPGRIP1L | c.2138C= (p.Thr713=) n.2562C= c.2150C= (p.Thr717=) c.383C= (p.Thr128=) n.2182C= n.2193C= | |
16 | g.53652549G>T | CA395916563 | RPGRIP1L | c.2138C>A (p.Thr713Lys) n.2562C>A c.2150C>A (p.Thr717Lys) c.383C>A (p.Thr128Lys) n.2182C>A n.2193C>A | |
16 | g.53652550T>A | CA395916564 | RPGRIP1L | c.2137A>T (p.Thr713Ser) n.2561A>T c.2149A>T (p.Thr717Ser) c.382A>T (p.Thr128Ser) n.2181A>T n.2192A>T | |
16 | g.53652550T>C | CA395916565 | RPGRIP1L | c.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 |
16 | g.53652550T>G | CA395916566 | RPGRIP1L | c.2137A>C (p.Thr713Pro) n.2561A>C c.2149A>C (p.Thr717Pro) c.382A>C (p.Thr128Pro) n.2181A>C n.2192A>C | |
16 | g.53652550T= | CA2223265745 | RPGRIP1L | c.2137A= (p.Thr713=) n.2561A= c.2149A= (p.Thr717=) c.382A= (p.Thr128=) n.2181A= n.2192A= | |
16 | g.53652551A>C | CA395916567 | RPGRIP1L | c.2136T>G (p.Cys712Trp) n.2560T>G c.2148T>G (p.Cys716Trp) c.381T>G (p.Cys127Trp) n.2180T>G n.2191T>G | |
16 | g.53652551A>G | CA495536631 | RPGRIP1L | c.2136T>C (p.Cys712=) n.2560T>C c.2148T>C (p.Cys716=) c.381T>C (p.Cys127=) n.2180T>C n.2191T>C | |
16 | g.53652551A>T | CA395916568 | RPGRIP1L | c.2136T>A (p.Cys712Ter) n.2560T>A c.2148T>A (p.Cys716Ter) c.381T>A (p.Cys127Ter) n.2180T>A n.2191T>A | |
16 | g.53652552C>A | CA395916569 | RPGRIP1L | c.2135G>T (p.Cys712Phe) n.2559G>T c.2147G>T (p.Cys716Phe) c.380G>T (p.Cys127Phe) n.2179G>T n.2190G>T | |
16 | g.53652552C>G | CA395916571 | RPGRIP1L | c.2135G>C (p.Cys712Ser) n.2559G>C c.2147G>C (p.Cys716Ser) c.380G>C (p.Cys127Ser) n.2179G>C n.2190G>C | |
16 | g.53652552C>T | CA395916570 | RPGRIP1L | c.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 |
16 | g.53652553A>C | CA395916572 | RPGRIP1L | c.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 |
16 | g.53652553A>G | CA395916573 | RPGRIP1L | c.2134T>C (p.Cys712Arg) n.2558T>C c.2146T>C (p.Cys716Arg) c.379T>C (p.Cys127Arg) n.2178T>C n.2189T>C | |
16 | g.53652553A>T | CA395916574 | RPGRIP1L | c.2134T>A (p.Cys712Ser) n.2558T>A c.2146T>A (p.Cys716Ser) c.379T>A (p.Cys127Ser) n.2178T>A n.2189T>A | |
16 | g.53652554A>C | CA395916575 | RPGRIP1L | c.2133T>G (p.Phe711Leu) n.2557T>G c.2145T>G (p.Phe715Leu) c.378T>G (p.Phe126Leu) n.2177T>G n.2188T>G | |
16 | g.53652554A>G | CA495536632 | RPGRIP1L | c.2133T>C (p.Phe711=) n.2557T>C c.2145T>C (p.Phe715=) c.378T>C (p.Phe126=) n.2177T>C n.2188T>C | |
16 | g.53652554A>T | CA395916576 | RPGRIP1L | c.2133T>A (p.Phe711Leu) n.2557T>A c.2145T>A (p.Phe715Leu) c.378T>A (p.Phe126Leu) n.2177T>A n.2188T>A | |
16 | g.53652555A>C | CA395916577 | RPGRIP1L | c.2132T>G (p.Phe711Cys) n.2556T>G c.2144T>G (p.Phe715Cys) c.377T>G (p.Phe126Cys) n.2176T>G n.2187T>G | |
16 | g.53652555A>G | CA395916578 | RPGRIP1L | c.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 |
16 | g.53652555A>T | CA395916579 | RPGRIP1L | c.2132T>A (p.Phe711Tyr) n.2556T>A c.2144T>A (p.Phe715Tyr) c.377T>A (p.Phe126Tyr) n.2176T>A n.2187T>A | |
16 | g.53652556A>C | CA395916580 | RPGRIP1L | c.2131T>G (p.Phe711Val) n.2555T>G c.2143T>G (p.Phe715Val) c.376T>G (p.Phe126Val) n.2175T>G n.2186T>G | |
16 | g.53652556A>G | CA395916581 | RPGRIP1L | c.2131T>C (p.Phe711Leu) n.2555T>C c.2143T>C (p.Phe715Leu) c.376T>C (p.Phe126Leu) n.2175T>C n.2186T>C | |
16 | g.53652556A>T | CA395916582 | RPGRIP1L | c.2131T>A (p.Phe711Ile) n.2555T>A c.2143T>A (p.Phe715Ile) c.376T>A (p.Phe126Ile) n.2175T>A n.2186T>A | |
16 | g.53652557T>A | CA495536633 | RPGRIP1L | c.2130A>T (p.Ile710=) n.2554A>T c.2142A>T (p.Ile714=) c.375A>T (p.Ile125=) n.2174A>T n.2185A>T | |
16 | g.53652557T>C | CA8057632 | RPGRIP1L | c.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 |
16 | g.53652557T>G | CA495536634 | RPGRIP1L | c.2130A>C (p.Ile710=) n.2554A>C c.2142A>C (p.Ile714=) c.375A>C (p.Ile125=) n.2174A>C n.2185A>C | |
16 | g.53652557T= | CA2223265750 | RPGRIP1L | c.2130A= (p.Ile710=) n.2554A= c.2142A= (p.Ile714=) c.375A= (p.Ile125=) n.2174A= n.2185A= | |
16 | g.53652558A>C | CA395916583 | RPGRIP1L | c.2129T>G (p.Ile710Arg) n.2553T>G c.2141T>G (p.Ile714Arg) c.374T>G (p.Ile125Arg) n.2173T>G n.2184T>G | |
16 | g.53652558A>G | CA395916585 | RPGRIP1L | c.2129T>C (p.Ile710Thr) n.2553T>C c.2141T>C (p.Ile714Thr) c.374T>C (p.Ile125Thr) n.2173T>C n.2184T>C | |
16 | g.53652558A>T | CA395916584 | RPGRIP1L | c.2129T>A (p.Ile710Lys) n.2553T>A c.2141T>A (p.Ile714Lys) c.374T>A (p.Ile125Lys) n.2173T>A n.2184T>A | |
16 | g.53652559T>A | CA395916586 | RPGRIP1L | c.2128A>T (p.Ile710Leu) n.2552A>T c.2140A>T (p.Ile714Leu) c.373A>T (p.Ile125Leu) n.2172A>T n.2183A>T | |
16 | g.53652559T>C | CA395916587 | RPGRIP1L | c.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 |
16 | g.53652559T>G | CA395916588 | RPGRIP1L | c.2128A>C (p.Ile710Leu) n.2552A>C c.2140A>C (p.Ile714Leu) c.373A>C (p.Ile125Leu) n.2172A>C n.2183A>C | |
16 | g.53652559T= | CA2223265757 | RPGRIP1L | c.2128A= (p.Ile710=) n.2552A= c.2140A= (p.Ile714=) c.373A= (p.Ile125=) n.2172A= n.2183A= | |
16 | g.53652560T>A | CA495536635 | RPGRIP1L | c.2127A>T (p.Arg709=) n.2551A>T c.2139A>T (p.Arg713=) c.372A>T (p.Arg124=) n.2171A>T n.2182A>T | |
16 | g.53652560T>C | CA495536636 | RPGRIP1L | c.2127A>G (p.Arg709=) n.2551A>G c.2139A>G (p.Arg713=) c.372A>G (p.Arg124=) n.2171A>G n.2182A>G | |
16 | g.53652560T>G | CA495536637 | RPGRIP1L | c.2127A>C (p.Arg709=) n.2551A>C c.2139A>C (p.Arg713=) c.372A>C (p.Arg124=) n.2171A>C n.2182A>C | |
16 | g.53652561C>A | CA8057634 | RPGRIP1L | c.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 |
16 | g.53652561C= | CA2223265758 | RPGRIP1L | c.2126G= (p.Arg709=) n.2550G= c.2138G= (p.Arg713=) c.371G= (p.Arg124=) n.2170G= n.2181G= | |
16 | g.53652561C>G | CA395916589 | RPGRIP1L | c.2126G>C (p.Arg709Pro) n.2550G>C c.2138G>C (p.Arg713Pro) c.371G>C (p.Arg124Pro) n.2170G>C n.2181G>C | |
16 | g.53652561C>T | CA8057633 | RPGRIP1L | c.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 |
16 | g.53652562G>A | CA281343836 | RPGRIP1L | c.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 |
16 | g.53652562G>C | CA395916590 | RPGRIP1L | c.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 |
16 | g.53652562G= | CA2223265766 | RPGRIP1L | c.2125C= (p.Arg709=) n.2549C= c.2137C= (p.Arg713=) c.370C= (p.Arg124=) n.2169C= n.2180C= | |
16 | g.53652562G>T | CA495536638 | RPGRIP1L | c.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 |
16 | g.53652563G>A | CA495536639 | RPGRIP1L | c.2124C>T (p.Gly708=) n.2548C>T c.2136C>T (p.Gly712=) c.369C>T (p.Gly123=) n.2168C>T n.2179C>T | |
16 | g.53652563G>C | CA495536640 | RPGRIP1L | c.2124C>G (p.Gly708=) n.2548C>G c.2136C>G (p.Gly712=) c.369C>G (p.Gly123=) n.2168C>G n.2179C>G | |
16 | g.53652563G>T | CA495536641 | RPGRIP1L | c.2124C>A (p.Gly708=) n.2548C>A c.2136C>A (p.Gly712=) c.369C>A (p.Gly123=) n.2168C>A n.2179C>A | |
16 | g.53652564C>A | CA395916591 | RPGRIP1L | c.2123G>T (p.Gly708Val) n.2547G>T c.2135G>T (p.Gly712Val) c.368G>T (p.Gly123Val) n.2167G>T n.2178G>T | |
16 | g.53652564C>G | CA395916592 | RPGRIP1L | c.2123G>C (p.Gly708Ala) n.2547G>C c.2135G>C (p.Gly712Ala) c.368G>C (p.Gly123Ala) n.2167G>C n.2178G>C | |
16 | g.53652564C>T | CA395916593 | RPGRIP1L | c.2123G>A (p.Gly708Asp) n.2547G>A c.2135G>A (p.Gly712Asp) c.368G>A (p.Gly123Asp) n.2167G>A n.2178G>A | |
16 | g.53652565C>A | CA395916594 | RPGRIP1L | c.2122G>T (p.Gly708Cys) n.2546G>T c.2134G>T (p.Gly712Cys) c.367G>T (p.Gly123Cys) n.2166G>T n.2177G>T | |
16 | g.53652565C= | CA2223265776 | RPGRIP1L | c.2122G= (p.Gly708=) n.2546G= c.2134G= (p.Gly712=) c.367G= (p.Gly123=) n.2166G= n.2177G= | |
16 | g.53652565C>G | CA395916595 | RPGRIP1L | c.2122G>C (p.Gly708Arg) n.2546G>C c.2134G>C (p.Gly712Arg) c.367G>C (p.Gly123Arg) n.2166G>C n.2177G>C | |
16 | g.53652565C>T | CA8057635 | RPGRIP1L | c.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 |
16 | g.53652566G>A | CA8057636 | RPGRIP1L | c.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 |
16 | g.53652566G>C | CA395916597 | RPGRIP1L | c.2121C>G (p.Ser707Arg) n.2545C>G c.2133C>G (p.Ser711Arg) c.366C>G (p.Ser122Arg) n.2165C>G n.2176C>G | |
16 | g.53652566G= | CA2223265783 | RPGRIP1L | c.2121C= (p.Ser707=) n.2545C= c.2133C= (p.Ser711=) c.366C= (p.Ser122=) n.2165C= n.2176C= | |
16 | g.53652566G>T | CA395916596 | RPGRIP1L | c.2121C>A (p.Ser707Arg) n.2545C>A c.2133C>A (p.Ser711Arg) c.366C>A (p.Ser122Arg) n.2165C>A n.2176C>A | |
16 | g.53652566_53652567insT | CA645598418 | RPGRIP1L | c.2120_2121insA (p.Ser707ArgfsTer?) n.2544_2545insA c.2132_2133insA (p.Ser711ArgfsTer?) c.365_366insA (p.Ser122ArgfsTer?) n.2164_2165insA n.2175_2176insA | COSMIC |
16 | g.53652567C>A | CA8057637 | RPGRIP1L | c.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 |
16 | g.53652567C= | CA2223265788 | RPGRIP1L | c.2120G= (p.Ser707=) n.2544G= c.2132G= (p.Ser711=) c.365G= (p.Ser122=) n.2164G= n.2175G= | |
16 | g.53652567C>G | CA395916598 | RPGRIP1L | c.2120G>C (p.Ser707Thr) n.2544G>C c.2132G>C (p.Ser711Thr) c.365G>C (p.Ser122Thr) n.2164G>C n.2175G>C | |
16 | g.53652567C>T | CA281343851 | RPGRIP1L | c.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 |
16 | g.53652567_53652568delinsCT | CA2223265792 | RPGRIP1L | c.2119_2120delinsAG (p.Ser707=) n.2543_2544delinsAG c.2131_2132delinsAG (p.Ser711=) c.364_365delinsAG (p.Ser122=) n.2163_2164delinsAG n.2174_2175delinsAG | |
16 | g.53652568T>A | CA395916599 | RPGRIP1L | c.2119A>T (p.Ser707Cys) n.2543A>T c.2131A>T (p.Ser711Cys) c.364A>T (p.Ser122Cys) n.2163A>T n.2174A>T | |
16 | g.53652568T>C | CA395916600 | RPGRIP1L | c.2119A>G (p.Ser707Gly) n.2543A>G c.2131A>G (p.Ser711Gly) c.364A>G (p.Ser122Gly) n.2163A>G n.2174A>G | |
16 | g.53652568T>G | CA395916601 | RPGRIP1L | c.2119A>C (p.Ser707Arg) n.2543A>C c.2131A>C (p.Ser711Arg) c.364A>C (p.Ser122Arg) n.2163A>C n.2174A>C | |
16 | g.53652573dup | CA645598419 | RPGRIP1L | c.2119dup (p.Ser707LysfsTer?) n.2543dup c.2131dup (p.Ser711LysfsTer?) c.364dup (p.Ser122LysfsTer?) n.2163dup n.2174dup | gnomAD v4 COSMIC |
16 | g.53652573del | CA622655398 | RPGRIP1L | c.2119del (p.Ser707AlafsTer10) n.2543del c.2131del (p.Ser711AlafsTer10) c.364del (p.Ser122AlafsTer10) n.2163del n.2174del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.53652569T>A | CA395916602 | RPGRIP1L | c.2118A>T (p.Lys706Asn) n.2542A>T c.2130A>T (p.Lys710Asn) c.363A>T (p.Lys121Asn) n.2162A>T n.2173A>T | |
16 | g.53652569T>C | CA495536642 | RPGRIP1L | c.2118A>G (p.Lys706=) n.2542A>G c.2130A>G (p.Lys710=) c.363A>G (p.Lys121=) n.2162A>G n.2173A>G | |
16 | g.53652569T>G | CA8057638 | RPGRIP1L | c.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 |
16 | g.53652569T= | CA2223265798 | RPGRIP1L | c.2118A= (p.Lys706=) n.2542A= c.2130A= (p.Lys710=) c.363A= (p.Lys121=) n.2162A= n.2173A= | |
16 | g.53652570T>A | CA395916603 | RPGRIP1L | c.2117A>T (p.Lys706Ile) n.2541A>T c.2129A>T (p.Lys710Ile) c.362A>T (p.Lys121Ile) n.2161A>T n.2172A>T | |
16 | g.53652570T>C | CA395916604 | RPGRIP1L | c.2117A>G (p.Lys706Arg) n.2541A>G c.2129A>G (p.Lys710Arg) c.362A>G (p.Lys121Arg) n.2161A>G n.2172A>G | |
16 | g.53652570T>G | CA395916605 | RPGRIP1L | c.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 |
16 | g.53652570T= | CA2223265802 | RPGRIP1L | c.2117A= (p.Lys706=) n.2541A= c.2129A= (p.Lys710=) c.362A= (p.Lys121=) n.2161A= n.2172A= | |
16 | g.53652571T>A | CA395916607 | RPGRIP1L | c.2116A>T (p.Lys706Ter) n.2540A>T c.2128A>T (p.Lys710Ter) c.361A>T (p.Lys121Ter) n.2160A>T n.2171A>T | |
16 | g.53652571T>C | CA395916608 | RPGRIP1L | c.2116A>G (p.Lys706Glu) n.2540A>G c.2128A>G (p.Lys710Glu) c.361A>G (p.Lys121Glu) n.2160A>G n.2171A>G | |
16 | g.53652571T>G | CA395916606 | RPGRIP1L | c.2116A>C (p.Lys706Gln) n.2540A>C c.2128A>C (p.Lys710Gln) c.361A>C (p.Lys121Gln) n.2160A>C n.2171A>C | |
16 | g.53652572T>A | CA395916610 | RPGRIP1L | c.2115A>T (p.Glu705Asp) n.2539A>T c.2127A>T (p.Glu709Asp) c.360A>T (p.Glu120Asp) n.2159A>T n.2170A>T | |
16 | g.53652572T>C | CA495536643 | RPGRIP1L | c.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 |
16 | g.53652572T>G | CA395916609 | RPGRIP1L | c.2115A>C (p.Glu705Asp) n.2539A>C c.2127A>C (p.Glu709Asp) c.360A>C (p.Glu120Asp) n.2159A>C n.2170A>C | |
16 | g.53652572T= | CA2223265807 | RPGRIP1L | c.2115A= (p.Glu705=) n.2539A= c.2127A= (p.Glu709=) c.360A= (p.Glu120=) n.2159A= n.2170A= | |
16 | g.53652573T>A | CA395916613 | RPGRIP1L | c.2114A>T (p.Glu705Val) n.2538A>T c.2126A>T (p.Glu709Val) c.359A>T (p.Glu120Val) n.2158A>T n.2169A>T | |
16 | g.53652573T>C | CA395916611 | RPGRIP1L | c.2114A>G (p.Glu705Gly) n.2538A>G c.2126A>G (p.Glu709Gly) c.359A>G (p.Glu120Gly) n.2158A>G n.2169A>G | dbSNP |
16 | g.53652573T>G | CA395916612 | RPGRIP1L | c.2114A>C (p.Glu705Ala) n.2538A>C c.2126A>C (p.Glu709Ala) c.359A>C (p.Glu120Ala) n.2158A>C n.2169A>C | |
16 | g.53652573T= | CA2223265812 | RPGRIP1L | c.2114A= (p.Glu705=) n.2538A= c.2126A= (p.Glu709=) c.359A= (p.Glu120=) n.2158A= n.2169A= | |
16 | g.53652574C>A | CA395916614 | RPGRIP1L | c.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 |
16 | g.53652574C= | CA2223265818 | RPGRIP1L | c.2113G= (p.Glu705=) n.2537G= c.2125G= (p.Glu709=) c.358G= (p.Glu120=) n.2157G= n.2168G= | |
16 | g.53652574C>G | CA395916615 | RPGRIP1L | c.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 |
16 | g.53652574C>T | CA395916616 | RPGRIP1L | c.2113G>A (p.Glu705Lys) n.2537G>A c.2125G>A (p.Glu709Lys) c.358G>A (p.Glu120Lys) n.2157G>A n.2168G>A | |
16 | g.53652575A>C | CA495536644 | RPGRIP1L | c.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 |
16 | g.53652575A>G | CA495536645 | RPGRIP1L | c.2112T>C (p.Leu704=) n.2536T>C c.2124T>C (p.Leu708=) c.357T>C (p.Leu119=) n.2156T>C n.2167T>C | |
16 | g.53652575A>T | CA495536646 | RPGRIP1L | c.2112T>A (p.Leu704=) n.2536T>A c.2124T>A (p.Leu708=) c.357T>A (p.Leu119=) n.2156T>A n.2167T>A | |
16 | g.53652576A= | CA2223265822 | RPGRIP1L | c.2111T= (p.Leu704=) n.2535T= c.2123T= (p.Leu708=) c.356T= (p.Leu119=) n.2155T= n.2166T= | |
16 | g.53652576A>C | CA395916617 | RPGRIP1L | c.2111T>G (p.Leu704Arg) n.2535T>G c.2123T>G (p.Leu708Arg) c.356T>G (p.Leu119Arg) n.2155T>G n.2166T>G | |
16 | g.53652576A>G | CA395916618 | RPGRIP1L | c.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 |
16 | g.53652576A>T | CA395916619 | RPGRIP1L | c.2111T>A (p.Leu704His) n.2535T>A c.2123T>A (p.Leu708His) c.356T>A (p.Leu119His) n.2155T>A n.2166T>A | |
16 | g.53652577G>A | CA395916620 | RPGRIP1L | c.2110C>T (p.Leu704Phe) n.2534C>T c.2122C>T (p.Leu708Phe) c.355C>T (p.Leu119Phe) n.2154C>T n.2165C>T | |
16 | g.53652577G>C | CA395916621 | RPGRIP1L | c.2110C>G (p.Leu704Val) n.2534C>G c.2122C>G (p.Leu708Val) c.355C>G (p.Leu119Val) n.2154C>G n.2165C>G | |
16 | g.53652577G= | CA2223265828 | RPGRIP1L | c.2110C= (p.Leu704=) n.2534C= c.2122C= (p.Leu708=) c.355C= (p.Leu119=) n.2154C= n.2165C= | |
16 | g.53652577G>T | CA395916622 | RPGRIP1L | c.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 |
16 | g.53652578A>C | CA395916623 | RPGRIP1L | c.2109T>G (p.Ile703Met) n.2533T>G c.2121T>G (p.Ile707Met) c.354T>G (p.Ile118Met) n.2153T>G n.2164T>G | |
16 | g.53652578A>G | CA495536647 | RPGRIP1L | c.2109T>C (p.Ile703=) n.2533T>C c.2121T>C (p.Ile707=) c.354T>C (p.Ile118=) n.2153T>C n.2164T>C | |
16 | g.53652578A>T | CA495536648 | RPGRIP1L | c.2109T>A (p.Ile703=) n.2533T>A c.2121T>A (p.Ile707=) c.354T>A (p.Ile118=) n.2153T>A n.2164T>A | |
16 | g.53652579A>C | CA395916626 | RPGRIP1L | c.2108T>G (p.Ile703Ser) n.2532T>G c.2120T>G (p.Ile707Ser) c.353T>G (p.Ile118Ser) n.2152T>G n.2163T>G | |
16 | g.53652579A>G | CA395916624 | RPGRIP1L | c.2108T>C (p.Ile703Thr) n.2532T>C c.2120T>C (p.Ile707Thr) c.353T>C (p.Ile118Thr) n.2152T>C n.2163T>C | |
16 | g.53652579A>T | CA395916625 | RPGRIP1L | c.2108T>A (p.Ile703Asn) n.2532T>A c.2120T>A (p.Ile707Asn) c.353T>A (p.Ile118Asn) n.2152T>A n.2163T>A | |
16 | g.53652580T>A | CA395916627 | RPGRIP1L | c.2107A>T (p.Ile703Phe) n.2531A>T c.2119A>T (p.Ile707Phe) c.352A>T (p.Ile118Phe) n.2151A>T n.2162A>T | |
16 | g.53652580T>C | CA395916628 | RPGRIP1L | c.2107A>G (p.Ile703Val) n.2531A>G c.2119A>G (p.Ile707Val) c.352A>G (p.Ile118Val) n.2151A>G n.2162A>G | |
16 | g.53652580T>G | CA395916629 | RPGRIP1L | c.2107A>C (p.Ile703Leu) n.2531A>C c.2119A>C (p.Ile707Leu) c.352A>C (p.Ile118Leu) n.2151A>C n.2162A>C | |
16 | g.53652581T>A | CA395916630 | RPGRIP1L | c.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 |
16 | g.53652581T>C | CA495536649 | RPGRIP1L | c.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 |
16 | g.53652581T>G | CA395916631 | RPGRIP1L | c.2106A>C (p.Glu702Asp) n.2530A>C c.2118A>C (p.Glu706Asp) c.351A>C (p.Glu117Asp) n.2150A>C n.2161A>C | |
16 | g.53652582T>A | CA395916632 | RPGRIP1L | c.2105A>T (p.Glu702Val) n.2529A>T c.2117A>T (p.Glu706Val) c.350A>T (p.Glu117Val) n.2149A>T n.2160A>T | |
16 | g.53652582T>C | CA8057639 | RPGRIP1L | c.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 |
16 | g.53652582T>G | CA395916633 | RPGRIP1L | c.2105A>C (p.Glu702Ala) n.2529A>C c.2117A>C (p.Glu706Ala) c.350A>C (p.Glu117Ala) n.2149A>C n.2160A>C | |
16 | g.53652582T= | CA2223265830 | RPGRIP1L | c.2105A= (p.Glu702=) n.2529A= c.2117A= (p.Glu706=) c.350A= (p.Glu117=) n.2149A= n.2160A= | |
16 | g.53652583C>A | CA395916634 | RPGRIP1L | c.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 |
16 | g.53652583C= | CA2223265837 | RPGRIP1L | c.2104G= (p.Glu702=) n.2528G= c.2116G= (p.Glu706=) c.349G= (p.Glu117=) n.2148G= n.2159G= | |
16 | g.53652583C>G | CA395916635 | RPGRIP1L | c.2104G>C (p.Glu702Gln) n.2528G>C c.2116G>C (p.Glu706Gln) c.349G>C (p.Glu117Gln) n.2148G>C n.2159G>C | |
16 | g.53652583C>T | CA281343862 | RPGRIP1L | c.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 |
16 | g.53652584G>A | CA8057640 | RPGRIP1L | c.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 |
16 | g.53652584G>C | CA395916637 | RPGRIP1L | c.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 |
16 | g.53652584G= | CA2223265844 | RPGRIP1L | c.2103C= (p.His701=) n.2527C= c.2115C= (p.His705=) c.348C= (p.His116=) n.2147C= n.2158C= | |
16 | g.53652584G>T | CA395916636 | RPGRIP1L | c.2103C>A (p.His701Gln) n.2527C>A c.2115C>A (p.His705Gln) c.348C>A (p.His116Gln) n.2147C>A n.2158C>A | |
16 | g.53652585T>A | CA395916638 | RPGRIP1L | c.2102A>T (p.His701Leu) n.2526A>T c.2114A>T (p.His705Leu) c.347A>T (p.His116Leu) n.2146A>T n.2157A>T | |
16 | g.53652585T>C | CA395916639 | RPGRIP1L | c.2102A>G (p.His701Arg) n.2526A>G c.2114A>G (p.His705Arg) c.347A>G (p.His116Arg) n.2146A>G n.2157A>G | |
16 | g.53652585T>G | CA395916640 | RPGRIP1L | c.2102A>C (p.His701Pro) n.2526A>C c.2114A>C (p.His705Pro) c.347A>C (p.His116Pro) n.2146A>C n.2157A>C | |
16 | g.53652586G>A | CA395916641 | RPGRIP1L | c.2101C>T (p.His701Tyr) n.2525C>T c.2113C>T (p.His705Tyr) c.346C>T (p.His116Tyr) n.2145C>T n.2156C>T | COSMIC |
16 | g.53652586G>C | CA395916642 | RPGRIP1L | c.2101C>G (p.His701Asp) n.2525C>G c.2113C>G (p.His705Asp) c.346C>G (p.His116Asp) n.2145C>G n.2156C>G | |
16 | g.53652586G>T | CA395916643 | RPGRIP1L | c.2101C>A (p.His701Asn) n.2525C>A c.2113C>A (p.His705Asn) c.346C>A (p.His116Asn) n.2145C>A n.2156C>A | |
16 | g.53652587A= | CA2223265847 | RPGRIP1L | c.2100T= (p.Phe700=) n.2524T= c.2112T= (p.Phe704=) c.345T= (p.Phe115=) n.2144T= n.2155T= | |
16 | g.53652587A>C | CA395916644 | RPGRIP1L | c.2100T>G (p.Phe700Leu) n.2524T>G c.2112T>G (p.Phe704Leu) c.345T>G (p.Phe115Leu) n.2144T>G n.2155T>G | |
16 | g.53652587A>G | CA8057641 | RPGRIP1L | c.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 |
16 | g.53652587A>T | CA395916645 | RPGRIP1L | c.2100T>A (p.Phe700Leu) n.2524T>A c.2112T>A (p.Phe704Leu) c.345T>A (p.Phe115Leu) n.2144T>A n.2155T>A | |
16 | g.53652588A>C | CA395916646 | RPGRIP1L | c.2099T>G (p.Phe700Cys) n.2523T>G c.2111T>G (p.Phe704Cys) c.344T>G (p.Phe115Cys) n.2143T>G n.2154T>G | |
16 | g.53652588A>G | CA395916647 | RPGRIP1L | c.2099T>C (p.Phe700Ser) n.2523T>C c.2111T>C (p.Phe704Ser) c.344T>C (p.Phe115Ser) n.2143T>C n.2154T>C | |
16 | g.53652588A>T | CA395916648 | RPGRIP1L | c.2099T>A (p.Phe700Tyr) n.2523T>A c.2111T>A (p.Phe704Tyr) c.344T>A (p.Phe115Tyr) n.2143T>A n.2154T>A | |
16 | g.53652589A= | CA2223265853 | RPGRIP1L | c.2098T= (p.Phe700=) n.2522T= c.2110T= (p.Phe704=) c.343T= (p.Phe115=) n.2142T= n.2153T= | |
16 | g.53652589A>C | CA395916650 | RPGRIP1L | c.2098T>G (p.Phe700Val) n.2522T>G c.2110T>G (p.Phe704Val) c.343T>G (p.Phe115Val) n.2142T>G n.2153T>G | |
16 | g.53652589A>G | CA395916651 | RPGRIP1L | c.2098T>C (p.Phe700Leu) n.2522T>C c.2110T>C (p.Phe704Leu) c.343T>C (p.Phe115Leu) n.2142T>C n.2153T>C | dbSNP |
16 | g.53652589A>T | CA395916649 | RPGRIP1L | c.2098T>A (p.Phe700Ile) n.2522T>A c.2110T>A (p.Phe704Ile) c.343T>A (p.Phe115Ile) n.2142T>A n.2153T>A | |
16 | g.53652590T>A | CA395916652 | RPGRIP1L | c.2097A>T (p.Lys699Asn) n.2521A>T c.2109A>T (p.Lys703Asn) c.342A>T (p.Lys114Asn) n.2141A>T n.2152A>T | |
16 | g.53652590T>C | CA495536650 | RPGRIP1L | c.2097A>G (p.Lys699=) n.2521A>G c.2109A>G (p.Lys703=) c.342A>G (p.Lys114=) n.2141A>G n.2152A>G | |
16 | g.53652590T>G | CA395916653 | RPGRIP1L | c.2097A>C (p.Lys699Asn) n.2521A>C c.2109A>C (p.Lys703Asn) c.342A>C (p.Lys114Asn) n.2141A>C n.2152A>C | |
16 | g.53652591T>A | CA395916654 | RPGRIP1L | c.2096A>T (p.Lys699Ile) n.2520A>T c.2108A>T (p.Lys703Ile) c.341A>T (p.Lys114Ile) n.2140A>T n.2151A>T | |
16 | g.53652591T>C | CA395916655 | RPGRIP1L | c.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 |
16 | g.53652591T>G | CA281343891 | RPGRIP1L | c.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 |
16 | g.53652591T= | CA2223265854 | RPGRIP1L | c.2096A= (p.Lys699=) n.2520A= c.2108A= (p.Lys703=) c.341A= (p.Lys114=) n.2140A= n.2151A= | |
16 | g.53652592T>A | CA395916658 | RPGRIP1L | c.2095A>T (p.Lys699Ter) n.2519A>T c.2107A>T (p.Lys703Ter) c.340A>T (p.Lys114Ter) n.2139A>T n.2150A>T | |
16 | g.53652592T>C | CA395916657 | RPGRIP1L | c.2095A>G (p.Lys699Glu) n.2519A>G c.2107A>G (p.Lys703Glu) c.340A>G (p.Lys114Glu) n.2139A>G n.2150A>G | |
16 | g.53652592T>G | CA395916656 | RPGRIP1L | c.2095A>C (p.Lys699Gln) n.2519A>C c.2107A>C (p.Lys703Gln) c.340A>C (p.Lys114Gln) n.2139A>C n.2150A>C | |
16 | g.53652594_53652597del | CA2580091680 | RPGRIP1L | c.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 |
16 | g.53652593T>A | CA395916659 | RPGRIP1L | c.2094A>T (p.Leu698Phe) n.2518A>T c.2106A>T (p.Leu702Phe) c.339A>T (p.Leu113Phe) n.2138A>T n.2149A>T | |
16 | g.53652593T>C | CA495536651 | RPGRIP1L | c.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 |
16 | g.53652593T>G | CA395916660 | RPGRIP1L | c.2094A>C (p.Leu698Phe) n.2518A>C c.2106A>C (p.Leu702Phe) c.339A>C (p.Leu113Phe) n.2138A>C n.2149A>C | |
16 | g.53652594A= | CA2223265858 | RPGRIP1L | c.2093T= (p.Leu698=) n.2517T= c.2105T= (p.Leu702=) c.338T= (p.Leu113=) n.2137T= n.2148T= | |
16 | g.53652594A>C | CA8057642 | RPGRIP1L | c.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 |
16 | g.53652594A>G | CA395916661 | RPGRIP1L | c.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 |
16 | g.53652594A>T | CA395916662 | RPGRIP1L | c.2093T>A (p.Leu698Ter) n.2517T>A c.2105T>A (p.Leu702Ter) c.338T>A (p.Leu113Ter) n.2137T>A n.2148T>A | |
16 | g.53652595A>C | CA395916663 | RPGRIP1L | c.2092T>G (p.Leu698Val) n.2516T>G c.2104T>G (p.Leu702Val) c.337T>G (p.Leu113Val) n.2136T>G n.2147T>G | |
16 | g.53652595A>G | CA495536652 | RPGRIP1L | c.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 |
16 | g.53652595A>T | CA395916664 | RPGRIP1L | c.2092T>A (p.Leu698Ile) n.2516T>A c.2104T>A (p.Leu702Ile) c.337T>A (p.Leu113Ile) n.2136T>A n.2147T>A | |
16 | g.53652596T>A | CA395916665 | RPGRIP1L | c.2091A>T (p.Gln697His) n.2515A>T c.2103A>T (p.Gln701His) c.336A>T (p.Gln112His) n.2135A>T n.2146A>T | |
16 | g.53652596T>C | CA495536653 | RPGRIP1L | c.2091A>G (p.Gln697=) n.2515A>G c.2103A>G (p.Gln701=) c.336A>G (p.Gln112=) n.2135A>G n.2146A>G | |
16 | g.53652596T>G | CA395916666 | RPGRIP1L | c.2091A>C (p.Gln697His) n.2515A>C c.2103A>C (p.Gln701His) c.336A>C (p.Gln112His) n.2135A>C n.2146A>C | |
16 | g.53652597T>A | CA395916667 | RPGRIP1L | c.2090A>T (p.Gln697Leu) n.2514A>T c.2102A>T (p.Gln701Leu) c.335A>T (p.Gln112Leu) n.2134A>T n.2145A>T | |
16 | g.53652597T>C | CA395916668 | RPGRIP1L | c.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 |
16 | g.53652597T>G | CA395916669 | RPGRIP1L | c.2090A>C (p.Gln697Pro) n.2514A>C c.2102A>C (p.Gln701Pro) c.335A>C (p.Gln112Pro) n.2134A>C n.2145A>C | |
16 | g.53652597T= | CA2223265866 | RPGRIP1L | c.2090A= (p.Gln697=) n.2514A= c.2102A= (p.Gln701=) c.335A= (p.Gln112=) n.2134A= n.2145A= | |
16 | g.53652598G>A | CA395916670 | RPGRIP1L | c.2089C>T (p.Gln697Ter) n.2513C>T c.2101C>T (p.Gln701Ter) c.334C>T (p.Gln112Ter) n.2133C>T n.2144C>T | |
16 | g.53652598G>C | CA395916671 | RPGRIP1L | c.2089C>G (p.Gln697Glu) n.2513C>G c.2101C>G (p.Gln701Glu) c.334C>G (p.Gln112Glu) n.2133C>G n.2144C>G | |
16 | g.53652598G>T | CA395916672 | RPGRIP1L | c.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 |
16 | g.53652599A>C | CA395916674 | RPGRIP1L | c.2088T>G (p.Cys696Trp) n.2512T>G c.2100T>G (p.Cys700Trp) c.333T>G (p.Cys111Trp) n.2132T>G n.2143T>G | |
16 | g.53652599A>G | CA495536654 | RPGRIP1L | c.2088T>C (p.Cys696=) n.2512T>C c.2100T>C (p.Cys700=) c.333T>C (p.Cys111=) n.2132T>C n.2143T>C | |
16 | g.53652599A>T | CA395916673 | RPGRIP1L | c.2088T>A (p.Cys696Ter) n.2512T>A c.2100T>A (p.Cys700Ter) c.333T>A (p.Cys111Ter) n.2132T>A n.2143T>A | |
16 | g.53652600C>A | CA395916675 | RPGRIP1L | c.2087G>T (p.Cys696Phe) n.2511G>T c.2099G>T (p.Cys700Phe) c.332G>T (p.Cys111Phe) n.2131G>T n.2142G>T | |
16 | g.53652600C>G | CA395916676 | RPGRIP1L | c.2087G>C (p.Cys696Ser) n.2511G>C c.2099G>C (p.Cys700Ser) c.332G>C (p.Cys111Ser) n.2131G>C n.2142G>C | |
16 | g.53652600C>T | CA395916677 | RPGRIP1L | c.2087G>A (p.Cys696Tyr) n.2511G>A c.2099G>A (p.Cys700Tyr) c.332G>A (p.Cys111Tyr) n.2131G>A n.2142G>A | |
16 | g.53652601A>C | CA395916678 | RPGRIP1L | c.2086T>G (p.Cys696Gly) n.2510T>G c.2098T>G (p.Cys700Gly) c.331T>G (p.Cys111Gly) n.2130T>G n.2141T>G | |
16 | g.53652601A>G | CA395916679 | RPGRIP1L | c.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 |
16 | g.53652601A>T | CA395916680 | RPGRIP1L | c.2086T>A (p.Cys696Ser) n.2510T>A c.2098T>A (p.Cys700Ser) c.331T>A (p.Cys111Ser) n.2130T>A n.2141T>A | |
16 | g.53652602T>A | CA495536657 | RPGRIP1L | c.2085A>T (p.Ala695=) n.2509A>T c.2097A>T (p.Ala699=) c.330A>T (p.Ala110=) n.2129A>T n.2140A>T | |
16 | g.53652602T>C | CA495536656 | RPGRIP1L | c.2085A>G (p.Ala695=) n.2509A>G c.2097A>G (p.Ala699=) c.330A>G (p.Ala110=) n.2129A>G n.2140A>G | |
16 | g.53652602T>G | CA495536655 | RPGRIP1L | c.2085A>C (p.Ala695=) n.2509A>C c.2097A>C (p.Ala699=) c.330A>C (p.Ala110=) n.2129A>C n.2140A>C | |
16 | g.53652603G>A | CA395916682 | RPGRIP1L | c.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 |
16 | g.53652603G>C | CA395916681 | RPGRIP1L | c.2084C>G (p.Ala695Gly) n.2508C>G c.2096C>G (p.Ala699Gly) c.329C>G (p.Ala110Gly) n.2128C>G n.2139C>G | |
16 | g.53652603G= | CA2223265873 | RPGRIP1L | c.2084C= (p.Ala695=) n.2508C= c.2096C= (p.Ala699=) c.329C= (p.Ala110=) n.2128C= n.2139C= | |
16 | g.53652603G>T | CA8057643 | RPGRIP1L | c.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 |
16 | g.53652603_53652604delinsTT | CA2580091682 | RPGRIP1L | c.2083_2084delinsAA (p.Ala695Lys) n.2507_2508delinsAA c.2095_2096delinsAA (p.Ala699Lys) c.328_329delinsAA (p.Ala110Lys) n.2127_2128delinsAA n.2138_2139delinsAA | ClinVar |
16 | g.53652604C>A | CA395916683 | RPGRIP1L | c.2083G>T (p.Ala695Ser) n.2507G>T c.2095G>T (p.Ala699Ser) c.328G>T (p.Ala110Ser) n.2127G>T n.2138G>T | |
16 | g.53652604C= | CA2223265878 | RPGRIP1L | c.2083G= (p.Ala695=) n.2507G= c.2095G= (p.Ala699=) c.328G= (p.Ala110=) n.2127G= n.2138G= | |
16 | g.53652604C>G | CA251694 | RPGRIP1L | c.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 |
16 | g.53652604C>T | CA8057644 | RPGRIP1L | c.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 |
16 | g.53652605T>A | CA495536660 | RPGRIP1L | c.2082A>T (p.Ala694=) n.2506A>T c.2094A>T (p.Ala698=) c.327A>T (p.Ala109=) n.2126A>T n.2137A>T | |
16 | g.53652605T>C | CA495536659 | RPGRIP1L | c.2082A>G (p.Ala694=) n.2506A>G c.2094A>G (p.Ala698=) c.327A>G (p.Ala109=) n.2126A>G n.2137A>G | dbSNP |
16 | g.53652605T>G | CA495536658 | RPGRIP1L | c.2082A>C (p.Ala694=) n.2506A>C c.2094A>C (p.Ala698=) c.327A>C (p.Ala109=) n.2126A>C n.2137A>C | |
16 | g.53652605T= | CA2223265884 | RPGRIP1L | c.2082A= (p.Ala694=) n.2506A= c.2094A= (p.Ala698=) c.327A= (p.Ala109=) n.2126A= n.2137A= | |
16 | g.53652606G>A | CA395916684 | RPGRIP1L | c.2081C>T (p.Ala694Val) n.2505C>T c.2093C>T (p.Ala698Val) c.326C>T (p.Ala109Val) n.2125C>T n.2136C>T | |
16 | g.53652606G>C | CA395916685 | RPGRIP1L | c.2081C>G (p.Ala694Gly) n.2505C>G c.2093C>G (p.Ala698Gly) c.326C>G (p.Ala109Gly) n.2125C>G n.2136C>G | |
16 | g.53652606G>T | CA395916686 | RPGRIP1L | c.2081C>A (p.Ala694Glu) n.2505C>A c.2093C>A (p.Ala698Glu) c.326C>A (p.Ala109Glu) n.2125C>A n.2136C>A | |
16 | g.53652607C>A | CA395916687 | RPGRIP1L | c.2080G>T (p.Ala694Ser) n.2504G>T c.2092G>T (p.Ala698Ser) c.325G>T (p.Ala109Ser) n.2124G>T n.2135G>T | |
16 | g.53652607C>G | CA395916688 | RPGRIP1L | c.2080G>C (p.Ala694Pro) n.2504G>C c.2092G>C (p.Ala698Pro) c.325G>C (p.Ala109Pro) n.2124G>C n.2135G>C | |
16 | g.53652607C>T | CA395916689 | RPGRIP1L | c.2080G>A (p.Ala694Thr) n.2504G>A c.2092G>A (p.Ala698Thr) c.325G>A (p.Ala109Thr) n.2124G>A n.2135G>A | |
16 | g.53652608A>C | CA395916690 | RPGRIP1L | c.2079T>G (p.Ile693Met) n.2503T>G c.2091T>G (p.Ile697Met) c.324T>G (p.Ile108Met) n.2123T>G n.2134T>G | |
16 | g.53652608A>G | CA495536663 | RPGRIP1L | c.2079T>C (p.Ile693=) n.2503T>C c.2091T>C (p.Ile697=) c.324T>C (p.Ile108=) n.2123T>C n.2134T>C | |
16 | g.53652608A>T | CA495536662 | RPGRIP1L | c.2079T>A (p.Ile693=) n.2503T>A c.2091T>A (p.Ile697=) c.324T>A (p.Ile108=) n.2123T>A n.2134T>A | |
16 | g.53652609A= | CA2223265888 | RPGRIP1L | c.2078T= (p.Ile693=) n.2502T= c.2090T= (p.Ile697=) c.323T= (p.Ile108=) n.2122T= n.2133T= | |
16 | g.53652609A>C | CA395916691 | RPGRIP1L | c.2078T>G (p.Ile693Ser) n.2502T>G c.2090T>G (p.Ile697Ser) c.323T>G (p.Ile108Ser) n.2122T>G n.2133T>G | |
16 | g.53652609A>G | CA8057645 | RPGRIP1L | c.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 |
16 | g.53652609A>T | CA395916692 | RPGRIP1L | c.2078T>A (p.Ile693Asn) n.2502T>A c.2090T>A (p.Ile697Asn) c.323T>A (p.Ile108Asn) n.2122T>A n.2133T>A | |
16 | g.53652610T>A | CA395916693 | RPGRIP1L | c.2077A>T (p.Ile693Phe) n.2501A>T c.2089A>T (p.Ile697Phe) c.322A>T (p.Ile108Phe) n.2121A>T n.2132A>T | |
16 | g.53652610T>C | CA8057646 | RPGRIP1L | c.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 |
16 | g.53652610T>G | CA395916694 | RPGRIP1L | c.2077A>C (p.Ile693Leu) n.2501A>C c.2089A>C (p.Ile697Leu) c.322A>C (p.Ile108Leu) n.2121A>C n.2132A>C | |
16 | g.53652610T= | CA2223265891 | RPGRIP1L | c.2077A= (p.Ile693=) n.2501A= c.2089A= (p.Ile697=) c.322A= (p.Ile108=) n.2121A= n.2132A= | |
16 | g.53652611T>A | CA495536664 | RPGRIP1L | c.2076A>T (p.Thr692=) n.2500A>T c.2088A>T (p.Thr696=) c.321A>T (p.Thr107=) n.2120A>T n.2131A>T | |
16 | g.53652611T>C | CA8057647 | RPGRIP1L | c.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 |
16 | g.53652611T>G | CA495536665 | RPGRIP1L | c.2076A>C (p.Thr692=) n.2500A>C c.2088A>C (p.Thr696=) c.321A>C (p.Thr107=) n.2120A>C n.2131A>C | |
16 | g.53652611T= | CA2223265894 | RPGRIP1L | c.2076A= (p.Thr692=) n.2500A= c.2088A= (p.Thr696=) c.321A= (p.Thr107=) n.2120A= n.2131A= | |
16 | g.53652612G>A | CA395916695 | RPGRIP1L | c.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 |
16 | g.53652612G>C | CA395916696 | RPGRIP1L | c.2075C>G (p.Thr692Arg) n.2499C>G c.2087C>G (p.Thr696Arg) c.320C>G (p.Thr107Arg) n.2119C>G n.2130C>G | |
16 | g.53652612G>T | CA395916697 | RPGRIP1L | c.2075C>A (p.Thr692Lys) n.2499C>A c.2087C>A (p.Thr696Lys) c.320C>A (p.Thr107Lys) n.2119C>A n.2130C>A | |
16 | g.53652613T>A | CA395916698 | RPGRIP1L | c.2074A>T (p.Thr692Ser) n.2498A>T c.2086A>T (p.Thr696Ser) c.319A>T (p.Thr107Ser) n.2118A>T n.2129A>T | |
16 | g.53652613T>C | CA395916699 | RPGRIP1L | c.2074A>G (p.Thr692Ala) n.2498A>G c.2086A>G (p.Thr696Ala) c.319A>G (p.Thr107Ala) n.2118A>G n.2129A>G | |
16 | g.53652613T>G | CA395916700 | RPGRIP1L | c.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 |
16 | g.53652613T= | CA2223265899 | RPGRIP1L | c.2074A= (p.Thr692=) n.2498A= c.2086A= (p.Thr696=) c.319A= (p.Thr107=) n.2118A= n.2129A= | |
16 | g.53652614T>A | CA395916701 | RPGRIP1L | c.2073A>T (p.Glu691Asp) n.2497A>T c.2085A>T (p.Glu695Asp) c.318A>T (p.Glu106Asp) n.2117A>T n.2128A>T | |
16 | g.53652614T>C | CA495536666 | RPGRIP1L | c.2073A>G (p.Glu691=) n.2497A>G c.2085A>G (p.Glu695=) c.318A>G (p.Glu106=) n.2117A>G n.2128A>G | |
16 | g.53652614T>G | CA395916702 | RPGRIP1L | c.2073A>C (p.Glu691Asp) n.2497A>C c.2085A>C (p.Glu695Asp) c.318A>C (p.Glu106Asp) n.2117A>C n.2128A>C | |
16 | g.53652615T>A | CA395916703 | RPGRIP1L | c.2072A>T (p.Glu691Val) n.2496A>T c.2084A>T (p.Glu695Val) c.317A>T (p.Glu106Val) n.2116A>T n.2127A>T | |
16 | g.53652615T>C | CA395916704 | RPGRIP1L | c.2072A>G (p.Glu691Gly) n.2496A>G c.2084A>G (p.Glu695Gly) c.317A>G (p.Glu106Gly) n.2116A>G n.2127A>G | |
16 | g.53652615T>G | CA395916705 | RPGRIP1L | c.2072A>C (p.Glu691Ala) n.2496A>C c.2084A>C (p.Glu695Ala) c.317A>C (p.Glu106Ala) n.2116A>C n.2127A>C | |
16 | g.53652616C>A | CA395916708 | RPGRIP1L | c.2071G>T (p.Glu691Ter) n.2495G>T c.2083G>T (p.Glu695Ter) c.316G>T (p.Glu106Ter) n.2115G>T n.2126G>T | |
16 | g.53652616C= | CA2223265907 | RPGRIP1L | c.2071G= (p.Glu691=) n.2495G= c.2083G= (p.Glu695=) c.316G= (p.Glu106=) n.2115G= n.2126G= | |
16 | g.53652616C>G | CA395916707 | RPGRIP1L | c.2071G>C (p.Glu691Gln) n.2495G>C c.2083G>C (p.Glu695Gln) c.316G>C (p.Glu106Gln) n.2115G>C n.2126G>C | dbSNP |
16 | g.53652616C>T | CA395916706 | RPGRIP1L | c.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 |
16 | g.53652617A= | CA2223265912 | RPGRIP1L | c.2070T= (p.Tyr690=) n.2494T= c.2082T= (p.Tyr694=) c.315T= (p.Tyr105=) n.2114T= n.2125T= | |
16 | g.53652617A>C | CA395916709 | RPGRIP1L | c.2070T>G (p.Tyr690Ter) n.2494T>G c.2082T>G (p.Tyr694Ter) c.315T>G (p.Tyr105Ter) n.2114T>G n.2125T>G | |
16 | g.53652617A>G | CA495536668 | RPGRIP1L | c.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 |
16 | g.53652617A>T | CA395916710 | RPGRIP1L | c.2070T>A (p.Tyr690Ter) n.2494T>A c.2082T>A (p.Tyr694Ter) c.315T>A (p.Tyr105Ter) n.2114T>A n.2125T>A | |
16 | g.53652618T>A | CA395916711 | RPGRIP1L | c.2069A>T (p.Tyr690Phe) n.2493A>T c.2081A>T (p.Tyr694Phe) c.314A>T (p.Tyr105Phe) n.2113A>T n.2124A>T | |
16 | g.53652618T>C | CA395916712 | RPGRIP1L | c.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 |
16 | g.53652618T>G | CA395916713 | RPGRIP1L | c.2069A>C (p.Tyr690Ser) n.2493A>C c.2081A>C (p.Tyr694Ser) c.314A>C (p.Tyr105Ser) n.2113A>C n.2124A>C | |
16 | g.53652618T= | CA2223265917 | RPGRIP1L | c.2069A= (p.Tyr690=) n.2493A= c.2081A= (p.Tyr694=) c.314A= (p.Tyr105=) n.2113A= n.2124A= | |
16 | g.53652619A>C | CA395916714 | RPGRIP1L | c.2068T>G (p.Tyr690Asp) n.2492T>G c.2080T>G (p.Tyr694Asp) c.313T>G (p.Tyr105Asp) n.2112T>G n.2123T>G | |
16 | g.53652619A>G | CA395916715 | RPGRIP1L | c.2068T>C (p.Tyr690His) n.2492T>C c.2080T>C (p.Tyr694His) c.313T>C (p.Tyr105His) n.2112T>C n.2123T>C | |
16 | g.53652619A>T | CA395916716 | RPGRIP1L | c.2068T>A (p.Tyr690Asn) n.2492T>A c.2080T>A (p.Tyr694Asn) c.313T>A (p.Tyr105Asn) n.2112T>A n.2123T>A | |
16 | g.53652620T>A | CA395916717 | RPGRIP1L | c.2067A>T (p.Glu689Asp) n.2491A>T c.2079A>T (p.Glu693Asp) c.312A>T (p.Glu104Asp) n.2111A>T n.2122A>T | |
16 | g.53652620T>C | CA281343913 | RPGRIP1L | c.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 |
16 | g.53652620T>G | CA395916718 | RPGRIP1L | c.2067A>C (p.Glu689Asp) n.2491A>C c.2079A>C (p.Glu693Asp) c.312A>C (p.Glu104Asp) n.2111A>C n.2122A>C | |
16 | g.53652620T= | CA2223265922 | RPGRIP1L | c.2067A= (p.Glu689=) n.2491A= c.2079A= (p.Glu693=) c.312A= (p.Glu104=) n.2111A= n.2122A= | |
16 | g.53652621T>A | CA395916719 | RPGRIP1L | c.2066A>T (p.Glu689Val) n.2490A>T c.2078A>T (p.Glu693Val) c.311A>T (p.Glu104Val) n.2110A>T n.2121A>T | |
16 | g.53652621T>C | CA395916720 | RPGRIP1L | c.2066A>G (p.Glu689Gly) n.2490A>G c.2078A>G (p.Glu693Gly) c.311A>G (p.Glu104Gly) n.2110A>G n.2121A>G | |
16 | g.53652621T>G | CA395916721 | RPGRIP1L | c.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 |
16 | g.53652621T= | CA2223265926 | RPGRIP1L | c.2066A= (p.Glu689=) n.2490A= c.2078A= (p.Glu693=) c.311A= (p.Glu104=) n.2110A= n.2121A= | |
16 | g.53652622C>A | CA395916723 | RPGRIP1L | c.2065G>T (p.Glu689Ter) n.2489G>T c.2077G>T (p.Glu693Ter) c.310G>T (p.Glu104Ter) n.2109G>T n.2120G>T | |
16 | g.53652622C>G | CA395916724 | RPGRIP1L | c.2065G>C (p.Glu689Gln) n.2489G>C c.2077G>C (p.Glu693Gln) c.310G>C (p.Glu104Gln) n.2109G>C n.2120G>C | |
16 | g.53652622C>T | CA395916722 | RPGRIP1L | c.2065G>A (p.Glu689Lys) n.2489G>A c.2077G>A (p.Glu693Lys) c.310G>A (p.Glu104Lys) n.2109G>A n.2120G>A | |
16 | g.53652623T>A | CA495536678 | RPGRIP1L | c.2064A>T (p.Thr688=) n.2488A>T c.2076A>T (p.Thr692=) c.309A>T (p.Thr103=) n.2108A>T n.2119A>T | |
16 | g.53652623T>C | CA495536679 | RPGRIP1L | c.2064A>G (p.Thr688=) n.2488A>G c.2076A>G (p.Thr692=) c.309A>G (p.Thr103=) n.2108A>G n.2119A>G | ClinVar |
16 | g.53652623T>G | CA495536677 | RPGRIP1L | c.2064A>C (p.Thr688=) n.2488A>C c.2076A>C (p.Thr692=) c.309A>C (p.Thr103=) n.2108A>C n.2119A>C | |
16 | g.53652624G>A | CA395916726 | RPGRIP1L | c.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 |
16 | g.53652624G>C | CA395916725 | RPGRIP1L | c.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 |
16 | g.53652624G>T | CA395916727 | RPGRIP1L | c.2063C>A (p.Thr688Lys) n.2487C>A c.2075C>A (p.Thr692Lys) c.308C>A (p.Thr103Lys) n.2107C>A n.2118C>A | |
16 | g.53652625T>A | CA395916728 | RPGRIP1L | c.2062A>T (p.Thr688Ser) n.2486A>T c.2074A>T (p.Thr692Ser) c.307A>T (p.Thr103Ser) n.2106A>T n.2117A>T | |
16 | g.53652625T>C | CA395916730 | RPGRIP1L | c.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 |
16 | g.53652625T>G | CA395916729 | RPGRIP1L | c.2062A>C (p.Thr688Pro) n.2486A>C c.2074A>C (p.Thr692Pro) c.307A>C (p.Thr103Pro) n.2106A>C n.2117A>C | |
16 | g.53652625_53652632delinsTGCTATAA | CA2223265931 | RPGRIP1L | c.2055_2062delinsTTATAGCA (p.Ala685=) n.2479_2486delinsTTATAGCA c.2067_2074delinsTTATAGCA (p.Ala689=) c.300_307delinsTTATAGCA (p.Ala100=) n.2099_2106delinsTTATAGCA n.2110_2117delinsTTATAGCA | |
16 | g.53652626G>A | CA495536681 | RPGRIP1L | c.2061C>T (p.Ser687=) n.2485C>T c.2073C>T (p.Ser691=) c.306C>T (p.Ser102=) n.2105C>T n.2116C>T | |
16 | g.53652626G>C | CA395916731 | RPGRIP1L | c.2061C>G (p.Ser687Arg) n.2485C>G c.2073C>G (p.Ser691Arg) c.306C>G (p.Ser102Arg) n.2105C>G n.2116C>G | |
16 | g.53652626G>T | CA395916732 | RPGRIP1L | c.2061C>A (p.Ser687Arg) n.2485C>A c.2073C>A (p.Ser691Arg) c.306C>A (p.Ser102Arg) n.2105C>A n.2116C>A | |
16 | g.53652628_53652634del | CA8057648 | RPGRIP1L | c.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 |
16 | g.53652627C>A | CA395916733 | RPGRIP1L | c.2060G>T (p.Ser687Ile) n.2484G>T c.2072G>T (p.Ser691Ile) c.305G>T (p.Ser102Ile) n.2104G>T n.2115G>T | |
16 | g.53652627C>G | CA395916735 | RPGRIP1L | c.2060G>C (p.Ser687Thr) n.2484G>C c.2072G>C (p.Ser691Thr) c.305G>C (p.Ser102Thr) n.2104G>C n.2115G>C | |
16 | g.53652627C>T | CA395916734 | RPGRIP1L | c.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 |
16 | g.53652628T>A | CA395916736 | RPGRIP1L | c.2059A>T (p.Ser687Cys) n.2483A>T c.2071A>T (p.Ser691Cys) c.304A>T (p.Ser102Cys) n.2103A>T n.2114A>T | COSMIC |
16 | g.53652628T>C | CA395916737 | RPGRIP1L | c.2059A>G (p.Ser687Gly) n.2483A>G c.2071A>G (p.Ser691Gly) c.304A>G (p.Ser102Gly) n.2103A>G n.2114A>G | |
16 | g.53652628T>G | CA395916738 | RPGRIP1L | c.2059A>C (p.Ser687Arg) n.2483A>C c.2071A>C (p.Ser691Arg) c.304A>C (p.Ser102Arg) n.2103A>C n.2114A>C | |
16 | g.53652629A= | CA2223265937 | RPGRIP1L | c.2058T= (p.Tyr686=) n.2482T= c.2070T= (p.Tyr690=) c.303T= (p.Tyr101=) n.2102T= n.2113T= | |
16 | g.53652629A>C | CA395916739 | RPGRIP1L | c.2058T>G (p.Tyr686Ter) n.2482T>G c.2070T>G (p.Tyr690Ter) c.303T>G (p.Tyr101Ter) n.2102T>G n.2113T>G | |
16 | g.53652629A>G | CA8057649 | RPGRIP1L | c.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 |
16 | g.53652629A>T | CA395916740 | RPGRIP1L | c.2058T>A (p.Tyr686Ter) n.2482T>A c.2070T>A (p.Tyr690Ter) c.303T>A (p.Tyr101Ter) n.2102T>A n.2113T>A | |
16 | g.53652630T>A | CA395916741 | RPGRIP1L | c.2057A>T (p.Tyr686Phe) n.2481A>T c.2069A>T (p.Tyr690Phe) c.302A>T (p.Tyr101Phe) n.2101A>T n.2112A>T | |
16 | g.53652630T>C | CA395916742 | RPGRIP1L | c.2057A>G (p.Tyr686Cys) n.2481A>G c.2069A>G (p.Tyr690Cys) c.302A>G (p.Tyr101Cys) n.2101A>G n.2112A>G | |
16 | g.53652630T>G | CA395916743 | RPGRIP1L | c.2057A>C (p.Tyr686Ser) n.2481A>C c.2069A>C (p.Tyr690Ser) c.302A>C (p.Tyr101Ser) n.2101A>C n.2112A>C | |
16 | g.53652630_53652631insTA | CA2573152389 | RPGRIP1L | c.2056_2057insTA (p.Tyr686LeufsTer14) n.2480_2481insTA c.2068_2069insTA (p.Tyr690LeufsTer14) c.301_302insTA (p.Tyr101LeufsTer14) n.2100_2101insTA n.2111_2112insTA | dbSNP |
16 | g.53652631A>C | CA395916746 | RPGRIP1L | c.2056T>G (p.Tyr686Asp) n.2480T>G c.2068T>G (p.Tyr690Asp) c.301T>G (p.Tyr101Asp) n.2100T>G n.2111T>G | |
16 | g.53652631A>G | CA395916745 | RPGRIP1L | c.2056T>C (p.Tyr686His) n.2480T>C c.2068T>C (p.Tyr690His) c.301T>C (p.Tyr101His) n.2100T>C n.2111T>C | |
16 | g.53652631A>T | CA395916744 | RPGRIP1L | c.2056T>A (p.Tyr686Asn) n.2480T>A c.2068T>A (p.Tyr690Asn) c.301T>A (p.Tyr101Asn) n.2100T>A n.2111T>A | |
16 | g.53652632A>C | CA495536687 | RPGRIP1L | c.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 |
16 | g.53652632A>G | CA495536688 | RPGRIP1L | c.2055T>C (p.Ala685=) n.2479T>C c.2067T>C (p.Ala689=) c.300T>C (p.Ala100=) n.2099T>C n.2110T>C | |
16 | g.53652632A>T | CA495536689 | RPGRIP1L | c.2055T>A (p.Ala685=) n.2479T>A c.2067T>A (p.Ala689=) c.300T>A (p.Ala100=) n.2099T>A n.2110T>A | |
16 | g.53652633G>A | CA395916747 | RPGRIP1L | c.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 |
16 | g.53652633G>C | CA395916748 | RPGRIP1L | c.2054C>G (p.Ala685Gly) n.2478C>G c.2066C>G (p.Ala689Gly) c.299C>G (p.Ala100Gly) n.2098C>G n.2109C>G | |
16 | g.53652633G>T | CA395916749 | RPGRIP1L | c.2054C>A (p.Ala685Asp) n.2478C>A c.2066C>A (p.Ala689Asp) c.299C>A (p.Ala100Asp) n.2098C>A n.2109C>A | |
16 | g.53652634C>A | CA395916750 | RPGRIP1L | c.2053G>T (p.Ala685Ser) n.2477G>T c.2065G>T (p.Ala689Ser) c.298G>T (p.Ala100Ser) n.2097G>T n.2108G>T | |
16 | g.53652634C>G | CA395916751 | RPGRIP1L | c.2053G>C (p.Ala685Pro) n.2477G>C c.2065G>C (p.Ala689Pro) c.298G>C (p.Ala100Pro) n.2097G>C n.2108G>C | |
16 | g.53652634C>T | CA395916752 | RPGRIP1L | c.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 |
16 | g.53652635C>A | CA395916753 | RPGRIP1L | c.2052G>T (p.Gln684His) n.2476G>T c.2064G>T (p.Gln688His) c.297G>T (p.Gln99His) n.2096G>T n.2107G>T | |
16 | g.53652635C>G | CA395916754 | RPGRIP1L | c.2052G>C (p.Gln684His) n.2476G>C c.2064G>C (p.Gln688His) c.297G>C (p.Gln99His) n.2096G>C n.2107G>C | |
16 | g.53652635C>T | CA495536691 | RPGRIP1L | c.2052G>A (p.Gln684=) n.2476G>A c.2064G>A (p.Gln688=) c.297G>A (p.Gln99=) n.2096G>A n.2107G>A | |
16 | g.53652636T>A | CA395916755 | RPGRIP1L | c.2051A>T (p.Gln684Leu) n.2475A>T c.2063A>T (p.Gln688Leu) c.296A>T (p.Gln99Leu) n.2095A>T n.2106A>T | dbSNP |
16 | g.53652636T>C | CA395916756 | RPGRIP1L | c.2051A>G (p.Gln684Arg) n.2475A>G c.2063A>G (p.Gln688Arg) c.296A>G (p.Gln99Arg) n.2095A>G n.2106A>G | COSMIC |
16 | g.53652636T>G | CA395916757 | RPGRIP1L | c.2051A>C (p.Gln684Pro) n.2475A>C c.2063A>C (p.Gln688Pro) c.296A>C (p.Gln99Pro) n.2095A>C n.2106A>C | |
16 | g.53652636T= | CA2223265939 | RPGRIP1L | c.2051A= (p.Gln684=) n.2475A= c.2063A= (p.Gln688=) c.296A= (p.Gln99=) n.2095A= n.2106A= | |
16 | g.53652637G>A | CA251696 | RPGRIP1L | c.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 |
16 | g.53652637G>C | CA395916759 | RPGRIP1L | c.2050C>G (p.Gln684Glu) n.2474C>G c.2062C>G (p.Gln688Glu) c.295C>G (p.Gln99Glu) n.2094C>G n.2105C>G | |
16 | g.53652637G= | CA2223265944 | RPGRIP1L | c.2050C= (p.Gln684=) n.2474C= c.2062C= (p.Gln688=) c.295C= (p.Gln99=) n.2094C= n.2105C= | |
16 | g.53652637G>T | CA395916758 | RPGRIP1L | c.2050C>A (p.Gln684Lys) n.2474C>A c.2062C>A (p.Gln688Lys) c.295C>A (p.Gln99Lys) n.2094C>A n.2105C>A |