| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 16 | g.53652638G>A | CA495536692 | RPGRIP1L | c.2049C>T (p.His683=) n.2473C>T c.2061C>T (p.His687=) c.294C>T (p.His98=) n.2093C>T n.2104C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.53652638G>C | CA395916760 | RPGRIP1L | c.2049C>G (p.His683Gln) n.2473C>G c.2061C>G (p.His687Gln) c.294C>G (p.His98Gln) n.2093C>G n.2104C>G | |
| 16 | g.53652638G= | CA2223265950 | RPGRIP1L | c.2049C= (p.His683=) n.2473C= c.2061C= (p.His687=) c.294C= (p.His98=) n.2093C= n.2104C= | |
| 16 | g.53652638G>T | CA395916761 | RPGRIP1L | c.2049C>A (p.His683Gln) n.2473C>A c.2061C>A (p.His687Gln) c.294C>A (p.His98Gln) n.2093C>A n.2104C>A | |
| 16 | g.53652639T>A | CA395916762 | RPGRIP1L | c.2048A>T (p.His683Leu) n.2472A>T c.2060A>T (p.His687Leu) c.293A>T (p.His98Leu) n.2092A>T n.2103A>T | |
| 16 | g.53652639T>C | CA395916763 | RPGRIP1L | c.2048A>G (p.His683Arg) n.2472A>G c.2060A>G (p.His687Arg) c.293A>G (p.His98Arg) n.2092A>G n.2103A>G | gnomAD v4 |
| 16 | g.53652639T>G | CA395916764 | RPGRIP1L | c.2048A>C (p.His683Pro) n.2472A>C c.2060A>C (p.His687Pro) c.293A>C (p.His98Pro) n.2092A>C n.2103A>C | |
| 16 | g.53652640G>A | CA395916765 | RPGRIP1L | c.2047C>T (p.His683Tyr) n.2471C>T c.2059C>T (p.His687Tyr) c.292C>T (p.His98Tyr) n.2091C>T n.2102C>T | |
| 16 | g.53652640G>C | CA395916766 | RPGRIP1L | c.2047C>G (p.His683Asp) n.2471C>G c.2059C>G (p.His687Asp) c.292C>G (p.His98Asp) n.2091C>G n.2102C>G | |
| 16 | g.53652640G>T | CA395916767 | RPGRIP1L | c.2047C>A (p.His683Asn) n.2471C>A c.2059C>A (p.His687Asn) c.292C>A (p.His98Asn) n.2091C>A n.2102C>A | |
| 16 | g.53652641G>A | CA495536695 | RPGRIP1L | c.2046C>T (p.Val682=) n.2470C>T c.2058C>T (p.Val686=) c.291C>T (p.Val97=) n.2090C>T n.2101C>T | |
| 16 | g.53652641G>C | CA495536696 | RPGRIP1L | c.2046C>G (p.Val682=) n.2470C>G c.2058C>G (p.Val686=) c.291C>G (p.Val97=) n.2090C>G n.2101C>G | |
| 16 | g.53652641G= | CA2223265953 | RPGRIP1L | c.2046C= (p.Val682=) n.2470C= c.2058C= (p.Val686=) c.291C= (p.Val97=) n.2090C= n.2101C= | |
| 16 | g.53652641G>T | CA281343942 | RPGRIP1L | c.2046C>A (p.Val682=) n.2470C>A c.2058C>A (p.Val686=) c.291C>A (p.Val97=) n.2090C>A n.2101C>A | dbSNP |
| 16 | g.53652642A= | CA2223265958 | RPGRIP1L | c.2045T= (p.Val682=) n.2469T= c.2057T= (p.Val686=) c.290T= (p.Val97=) n.2089T= n.2100T= | |
| 16 | g.53652642A>C | CA395916768 | RPGRIP1L | c.2045T>G (p.Val682Gly) n.2469T>G c.2057T>G (p.Val686Gly) c.290T>G (p.Val97Gly) n.2089T>G n.2100T>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.53652642A>G | CA395916769 | RPGRIP1L | c.2045T>C (p.Val682Ala) n.2469T>C c.2057T>C (p.Val686Ala) c.290T>C (p.Val97Ala) n.2089T>C n.2100T>C | |
| 16 | g.53652642A>T | CA395916770 | RPGRIP1L | c.2045T>A (p.Val682Asp) n.2469T>A c.2057T>A (p.Val686Asp) c.290T>A (p.Val97Asp) n.2089T>A n.2100T>A | |
| 16 | g.53652642_53652643delinsAC | CA2223265957 | RPGRIP1L | c.2044_2045delinsGT (p.Val682=) n.2468_2469delinsGT c.2056_2057delinsGT (p.Val686=) c.289_290delinsGT (p.Val97=) n.2088_2089delinsGT n.2099_2100delinsGT | |
| 16 | g.53652643C>A | CA395916773 | RPGRIP1L | c.2044G>T (p.Val682Phe) n.2468G>T c.2056G>T (p.Val686Phe) c.289G>T (p.Val97Phe) n.2088G>T n.2099G>T | |
| 16 | g.53652643C>G | CA395916771 | RPGRIP1L | c.2044G>C (p.Val682Leu) n.2468G>C c.2056G>C (p.Val686Leu) c.289G>C (p.Val97Leu) n.2088G>C n.2099G>C | |
| 16 | g.53652643C>T | CA395916772 | RPGRIP1L | c.2044G>A (p.Val682Ile) n.2468G>A c.2056G>A (p.Val686Ile) c.289G>A (p.Val97Ile) n.2088G>A n.2099G>A | gnomAD v4 |
| 16 | g.53652644del | CA8057650 | RPGRIP1L | c.2044del (p.Val682SerfsTer17) n.2468del c.2056del (p.Val686SerfsTer17) c.289del (p.Val97SerfsTer17) n.2088del n.2099del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53652644C>A | CA395916774 | RPGRIP1L | c.2043G>T (p.Glu681Asp) n.2467G>T c.2055G>T (p.Glu685Asp) c.288G>T (p.Glu96Asp) n.2087G>T n.2098G>T | |
| 16 | g.53652644C>G | CA395916775 | RPGRIP1L | c.2043G>C (p.Glu681Asp) n.2467G>C c.2055G>C (p.Glu685Asp) c.288G>C (p.Glu96Asp) n.2087G>C n.2098G>C | |
| 16 | g.53652644C>T | CA495536703 | RPGRIP1L | c.2043G>A (p.Glu681=) n.2467G>A c.2055G>A (p.Glu685=) c.288G>A (p.Glu96=) n.2087G>A n.2098G>A | |
| 16 | g.53652645T>A | CA395916776 | RPGRIP1L | c.2042A>T (p.Glu681Val) n.2466A>T c.2054A>T (p.Glu685Val) c.287A>T (p.Glu96Val) n.2086A>T n.2097A>T | |
| 16 | g.53652645T>C | CA395916777 | RPGRIP1L | c.2042A>G (p.Glu681Gly) n.2466A>G c.2054A>G (p.Glu685Gly) c.287A>G (p.Glu96Gly) n.2086A>G n.2097A>G | ClinVar |
| 16 | g.53652645T>G | CA395916778 | RPGRIP1L | c.2042A>C (p.Glu681Ala) n.2466A>C c.2054A>C (p.Glu685Ala) c.287A>C (p.Glu96Ala) n.2086A>C n.2097A>C | |
| 16 | g.53652646C>A | CA395916779 | RPGRIP1L | c.2041G>T (p.Glu681Ter) n.2465G>T c.2053G>T (p.Glu685Ter) c.286G>T (p.Glu96Ter) n.2085G>T n.2096G>T | |
| 16 | g.53652646C>G | CA395916780 | RPGRIP1L | c.2041G>C (p.Glu681Gln) n.2465G>C c.2053G>C (p.Glu685Gln) c.286G>C (p.Glu96Gln) n.2085G>C n.2096G>C | |
| 16 | g.53652646C>T | CA395916781 | RPGRIP1L | c.2041G>A (p.Glu681Lys) n.2465G>A c.2053G>A (p.Glu685Lys) c.286G>A (p.Glu96Lys) n.2085G>A n.2096G>A | |
| 16 | g.53652647A>C | CA495536710 | RPGRIP1L | c.2040T>G (p.Leu680=) n.2464T>G c.2052T>G (p.Leu684=) c.285T>G (p.Leu95=) n.2084T>G n.2095T>G | ClinVar |
| 16 | g.53652647A>G | CA495536708 | RPGRIP1L | c.2040T>C (p.Leu680=) n.2464T>C c.2052T>C (p.Leu684=) c.285T>C (p.Leu95=) n.2084T>C n.2095T>C | |
| 16 | g.53652647A>T | CA495536707 | RPGRIP1L | c.2040T>A (p.Leu680=) n.2464T>A c.2052T>A (p.Leu684=) c.285T>A (p.Leu95=) n.2084T>A n.2095T>A | |
| 16 | g.53652648A>C | CA395916782 | RPGRIP1L | c.2039T>G (p.Leu680Arg) n.2463T>G c.2051T>G (p.Leu684Arg) c.284T>G (p.Leu95Arg) n.2083T>G n.2094T>G | |
| 16 | g.53652648A>G | CA395916783 | RPGRIP1L | c.2039T>C (p.Leu680Pro) n.2463T>C c.2051T>C (p.Leu684Pro) c.284T>C (p.Leu95Pro) n.2083T>C n.2094T>C | |
| 16 | g.53652648A>T | CA395916784 | RPGRIP1L | c.2039T>A (p.Leu680His) n.2463T>A c.2051T>A (p.Leu684His) c.284T>A (p.Leu95His) n.2083T>A n.2094T>A | |
| 16 | g.53652649G>A | CA8057651 | RPGRIP1L | c.2038C>T (p.Leu680Phe) n.2462C>T c.2050C>T (p.Leu684Phe) c.283C>T (p.Leu95Phe) n.2082C>T n.2093C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53652649G>C | CA395916786 | RPGRIP1L | c.2038C>G (p.Leu680Val) n.2462C>G c.2050C>G (p.Leu684Val) c.283C>G (p.Leu95Val) n.2082C>G n.2093C>G | |
| 16 | g.53652649G= | CA2223265967 | RPGRIP1L | c.2038C= (p.Leu680=) n.2462C= c.2050C= (p.Leu684=) c.283C= (p.Leu95=) n.2082C= n.2093C= | |
| 16 | g.53652649G>T | CA395916785 | RPGRIP1L | c.2038C>A (p.Leu680Ile) n.2462C>A c.2050C>A (p.Leu684Ile) c.283C>A (p.Leu95Ile) n.2082C>A n.2093C>A | |
| 16 | g.53652650G>A | CA495536717 | RPGRIP1L | c.2037C>T (p.Thr679=) n.2461C>T c.2049C>T (p.Thr683=) c.282C>T (p.Thr94=) n.2081C>T n.2092C>T | |
| 16 | g.53652650G>C | CA495536719 | RPGRIP1L | c.2037C>G (p.Thr679=) n.2461C>G c.2049C>G (p.Thr683=) c.282C>G (p.Thr94=) n.2081C>G n.2092C>G | |
| 16 | g.53652650G>T | CA495536718 | RPGRIP1L | c.2037C>A (p.Thr679=) n.2461C>A c.2049C>A (p.Thr683=) c.282C>A (p.Thr94=) n.2081C>A n.2092C>A | |
| 16 | g.53652651G>A | CA395916787 | RPGRIP1L | c.2036C>T (p.Thr679Ile) n.2460C>T c.2048C>T (p.Thr683Ile) c.281C>T (p.Thr94Ile) n.2080C>T n.2091C>T | COSMIC |
| 16 | g.53652651G>C | CA395916788 | RPGRIP1L | c.2036C>G (p.Thr679Ser) n.2460C>G c.2048C>G (p.Thr683Ser) c.281C>G (p.Thr94Ser) n.2080C>G n.2091C>G | |
| 16 | g.53652651G>T | CA395916789 | RPGRIP1L | c.2036C>A (p.Thr679Asn) n.2460C>A c.2048C>A (p.Thr683Asn) c.281C>A (p.Thr94Asn) n.2080C>A n.2091C>A | ClinVar |
| 16 | g.53652652T>A | CA395916790 | RPGRIP1L | c.2035A>T (p.Thr679Ser) n.2459A>T c.2047A>T (p.Thr683Ser) c.280A>T (p.Thr94Ser) n.2079A>T n.2090A>T | |
| 16 | g.53652652T>C | CA395916791 | RPGRIP1L | c.2035A>G (p.Thr679Ala) n.2459A>G c.2047A>G (p.Thr683Ala) c.280A>G (p.Thr94Ala) n.2079A>G n.2090A>G | |
| 16 | g.53652652T>G | CA395916792 | RPGRIP1L | c.2035A>C (p.Thr679Pro) n.2459A>C c.2047A>C (p.Thr683Pro) c.280A>C (p.Thr94Pro) n.2079A>C n.2090A>C | |
| 16 | g.53652653G>A | CA495536722 | RPGRIP1L | c.2034C>T (p.Ile678=) n.2458C>T c.2046C>T (p.Ile682=) c.279C>T (p.Ile93=) n.2078C>T n.2089C>T | |
| 16 | g.53652653G>C | CA395916793 | RPGRIP1L | c.2034C>G (p.Ile678Met) n.2458C>G c.2046C>G (p.Ile682Met) c.279C>G (p.Ile93Met) n.2078C>G n.2089C>G | |
| 16 | g.53652653G>T | CA495536724 | RPGRIP1L | c.2034C>A (p.Ile678=) n.2458C>A c.2046C>A (p.Ile682=) c.279C>A (p.Ile93=) n.2078C>A n.2089C>A | |
| 16 | g.53652654A= | CA2223265975 | RPGRIP1L | c.2033T= (p.Ile678=) n.2457T= c.2045T= (p.Ile682=) c.278T= (p.Ile93=) n.2077T= n.2088T= | |
| 16 | g.53652654A>C | CA395916794 | RPGRIP1L | c.2033T>G (p.Ile678Ser) n.2457T>G c.2045T>G (p.Ile682Ser) c.278T>G (p.Ile93Ser) n.2077T>G n.2088T>G | |
| 16 | g.53652654A>G | CA281343956 | RPGRIP1L | c.2033T>C (p.Ile678Thr) n.2457T>C c.2045T>C (p.Ile682Thr) c.278T>C (p.Ile93Thr) n.2077T>C n.2088T>C | dbSNP |
| 16 | g.53652654A>T | CA395916795 | RPGRIP1L | c.2033T>A (p.Ile678Asn) n.2457T>A c.2045T>A (p.Ile682Asn) c.278T>A (p.Ile93Asn) n.2077T>A n.2088T>A | |
| 16 | g.53652655T>A | CA395916796 | RPGRIP1L | c.2032A>T (p.Ile678Phe) n.2456A>T c.2044A>T (p.Ile682Phe) c.277A>T (p.Ile93Phe) n.2076A>T n.2087A>T | |
| 16 | g.53652655T>C | CA395916797 | RPGRIP1L | c.2032A>G (p.Ile678Val) n.2456A>G c.2044A>G (p.Ile682Val) c.277A>G (p.Ile93Val) n.2076A>G n.2087A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53652655T>G | CA281343960 | RPGRIP1L | c.2032A>C (p.Ile678Leu) n.2456A>C c.2044A>C (p.Ile682Leu) c.277A>C (p.Ile93Leu) n.2076A>C n.2087A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53652655T= | CA2223265981 | RPGRIP1L | c.2032A= (p.Ile678=) n.2456A= c.2044A= (p.Ile682=) c.277A= (p.Ile93=) n.2076A= n.2087A= | |
| 16 | g.53652656A>C | CA495536726 | RPGRIP1L | c.2031T>G (p.Thr677=) n.2455T>G c.2043T>G (p.Thr681=) c.276T>G (p.Thr92=) n.2075T>G n.2086T>G | |
| 16 | g.53652656A>G | CA495536728 | RPGRIP1L | c.2031T>C (p.Thr677=) n.2455T>C c.2043T>C (p.Thr681=) c.276T>C (p.Thr92=) n.2075T>C n.2086T>C | |
| 16 | g.53652656A>T | CA495536729 | RPGRIP1L | c.2031T>A (p.Thr677=) n.2455T>A c.2043T>A (p.Thr681=) c.276T>A (p.Thr92=) n.2075T>A n.2086T>A | |
| 16 | g.53652657G>A | CA201222 | RPGRIP1L | c.2030C>T (p.Thr677Ile) n.2454C>T c.2042C>T (p.Thr681Ile) c.275C>T (p.Thr92Ile) n.2074C>T n.2085C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53652657G>C | CA395916798 | RPGRIP1L | c.2030C>G (p.Thr677Ser) n.2454C>G c.2042C>G (p.Thr681Ser) c.275C>G (p.Thr92Ser) n.2074C>G n.2085C>G | |
| 16 | g.53652657G= | CA2223265991 | RPGRIP1L | c.2030C= (p.Thr677=) n.2454C= c.2042C= (p.Thr681=) c.275C= (p.Thr92=) n.2074C= n.2085C= | |
| 16 | g.53652657G>T | CA395916799 | RPGRIP1L | c.2030C>A (p.Thr677Asn) n.2454C>A c.2042C>A (p.Thr681Asn) c.275C>A (p.Thr92Asn) n.2074C>A n.2085C>A | |
| 16 | g.53652658T>A | CA395916800 | RPGRIP1L | c.2029A>T (p.Thr677Ser) n.2453A>T c.2041A>T (p.Thr681Ser) c.274A>T (p.Thr92Ser) n.2073A>T n.2084A>T | |
| 16 | g.53652658T>C | CA281343972 | RPGRIP1L | c.2029A>G (p.Thr677Ala) n.2453A>G c.2041A>G (p.Thr681Ala) c.274A>G (p.Thr92Ala) n.2073A>G n.2084A>G | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.53652658T>G | CA395916801 | RPGRIP1L | c.2029A>C (p.Thr677Pro) n.2453A>C c.2041A>C (p.Thr681Pro) c.274A>C (p.Thr92Pro) n.2073A>C n.2084A>C | |
| 16 | g.53652658T= | CA2223265995 | RPGRIP1L | c.2029A= (p.Thr677=) n.2453A= c.2041A= (p.Thr681=) c.274A= (p.Thr92=) n.2073A= n.2084A= | |
| 16 | g.53652659A>C | CA395916802 | RPGRIP1L | c.2028T>G (p.Asn676Lys) n.2452T>G c.2040T>G (p.Asn680Lys) c.273T>G (p.Asn91Lys) n.2072T>G n.2083T>G | |
| 16 | g.53652659A>G | CA495536734 | RPGRIP1L | c.2028T>C (p.Asn676=) n.2452T>C c.2040T>C (p.Asn680=) c.273T>C (p.Asn91=) n.2072T>C n.2083T>C | |
| 16 | g.53652659A>T | CA395916803 | RPGRIP1L | c.2028T>A (p.Asn676Lys) n.2452T>A c.2040T>A (p.Asn680Lys) c.273T>A (p.Asn91Lys) n.2072T>A n.2083T>A | |
| 16 | g.53652660T>A | CA395916804 | RPGRIP1L | c.2027A>T (p.Asn676Ile) n.2451A>T c.2039A>T (p.Asn680Ile) c.272A>T (p.Asn91Ile) n.2071A>T n.2082A>T | |
| 16 | g.53652660T>C | CA395916805 | RPGRIP1L | c.2027A>G (p.Asn676Ser) n.2451A>G c.2039A>G (p.Asn680Ser) c.272A>G (p.Asn91Ser) n.2071A>G n.2082A>G | COSMIC |
| 16 | g.53652660T>G | CA395916806 | RPGRIP1L | c.2027A>C (p.Asn676Thr) n.2451A>C c.2039A>C (p.Asn680Thr) c.272A>C (p.Asn91Thr) n.2071A>C n.2082A>C | |
| 16 | g.53652661dup | CA2633237798 | RPGRIP1L | c.2027dup (p.Asn676LysfsTer6) n.2451dup c.2039dup (p.Asn680LysfsTer6) c.272dup (p.Asn91LysfsTer6) n.2071dup n.2082dup | gnomAD v4 |
| 16 | g.53652661del | CA2573054236 | RPGRIP1L | c.2027del (p.Asn676IlefsTer23) n.2451del c.2039del (p.Asn680IlefsTer23) c.272del (p.Asn91IlefsTer23) n.2071del n.2082del | ClinVar dbSNP |
| 16 | g.53652661T>A | CA395916807 | RPGRIP1L | c.2026A>T (p.Asn676Tyr) n.2450A>T c.2038A>T (p.Asn680Tyr) c.271A>T (p.Asn91Tyr) n.2070A>T n.2081A>T | |
| 16 | g.53652661T>C | CA395916808 | RPGRIP1L | c.2026A>G (p.Asn676Asp) n.2450A>G c.2038A>G (p.Asn680Asp) c.271A>G (p.Asn91Asp) n.2070A>G n.2081A>G | |
| 16 | g.53652661T>G | CA395916809 | RPGRIP1L | c.2026A>C (p.Asn676His) n.2450A>C c.2038A>C (p.Asn680His) c.271A>C (p.Asn91His) n.2070A>C n.2081A>C | |
| 16 | g.53652662C>A | CA395916810 | RPGRIP1L | c.2025G>T (p.Lys675Asn) n.2449G>T c.2037G>T (p.Lys679Asn) c.270G>T (p.Lys90Asn) n.2069G>T n.2080G>T | |
| 16 | g.53652662C>G | CA395916811 | RPGRIP1L | c.2025G>C (p.Lys675Asn) n.2449G>C c.2037G>C (p.Lys679Asn) c.270G>C (p.Lys90Asn) n.2069G>C n.2080G>C | |
| 16 | g.53652662C>T | CA495536737 | RPGRIP1L | c.2025G>A (p.Lys675=) n.2449G>A c.2037G>A (p.Lys679=) c.270G>A (p.Lys90=) n.2069G>A n.2080G>A | |
| 16 | g.53652663T>A | CA395916812 | RPGRIP1L | c.2024A>T (p.Lys675Met) n.2448A>T c.2036A>T (p.Lys679Met) c.269A>T (p.Lys90Met) n.2068A>T n.2079A>T | |
| 16 | g.53652663T>C | CA395916814 | RPGRIP1L | c.2024A>G (p.Lys675Arg) n.2448A>G c.2036A>G (p.Lys679Arg) c.269A>G (p.Lys90Arg) n.2068A>G n.2079A>G | |
| 16 | g.53652663T>G | CA395916813 | RPGRIP1L | c.2024A>C (p.Lys675Thr) n.2448A>C c.2036A>C (p.Lys679Thr) c.269A>C (p.Lys90Thr) n.2068A>C n.2079A>C | |
| 16 | g.53652664T>A | CA395916815 | RPGRIP1L | c.2023A>T (p.Lys675Ter) n.2447A>T c.2035A>T (p.Lys679Ter) c.268A>T (p.Lys90Ter) n.2067A>T n.2078A>T | |
| 16 | g.53652664T>C | CA395916816 | RPGRIP1L | c.2023A>G (p.Lys675Glu) n.2447A>G c.2035A>G (p.Lys679Glu) c.268A>G (p.Lys90Glu) n.2067A>G n.2078A>G | |
| 16 | g.53652664T>G | CA395916817 | RPGRIP1L | c.2023A>C (p.Lys675Gln) n.2447A>C c.2035A>C (p.Lys679Gln) c.268A>C (p.Lys90Gln) n.2067A>C n.2078A>C | |
| 16 | g.53652665C>A | CA395916818 | RPGRIP1L | c.2022G>T (p.Gln674His) n.2446G>T c.2034G>T (p.Gln678His) c.267G>T (p.Gln89His) n.2066G>T n.2077G>T | |
| 16 | g.53652665C>G | CA395916819 | RPGRIP1L | c.2022G>C (p.Gln674His) n.2446G>C c.2034G>C (p.Gln678His) c.267G>C (p.Gln89His) n.2066G>C n.2077G>C | |
| 16 | g.53652665C>T | CA495536742 | RPGRIP1L | c.2022G>A (p.Gln674=) n.2446G>A c.2034G>A (p.Gln678=) c.267G>A (p.Gln89=) n.2066G>A n.2077G>A | ClinVar |
| 16 | g.53652666T>A | CA395916820 | RPGRIP1L | c.2021A>T (p.Gln674Leu) n.2445A>T c.2033A>T (p.Gln678Leu) c.266A>T (p.Gln89Leu) n.2065A>T n.2076A>T | |
| 16 | g.53652666T>C | CA395916821 | RPGRIP1L | c.2021A>G (p.Gln674Arg) n.2445A>G c.2033A>G (p.Gln678Arg) c.266A>G (p.Gln89Arg) n.2065A>G n.2076A>G | dbSNP |
| 16 | g.53652666T>G | CA395916822 | RPGRIP1L | c.2021A>C (p.Gln674Pro) n.2445A>C c.2033A>C (p.Gln678Pro) c.266A>C (p.Gln89Pro) n.2065A>C n.2076A>C | |
| 16 | g.53652666T= | CA2223266004 | RPGRIP1L | c.2021A= (p.Gln674=) n.2445A= c.2033A= (p.Gln678=) c.266A= (p.Gln89=) n.2065A= n.2076A= | |
| 16 | g.53652667_53652670dup | CA2740093365 | RPGRIP1L | c.2018_2021dup (p.Gln674HisfsTer9) n.2442_2445dup c.2030_2033dup (p.Gln678HisfsTer9) c.263_266dup (p.Gln89HisfsTer9) n.2062_2065dup n.2073_2076dup | ClinVar |
| 16 | g.53652667G>A | CA395916823 | RPGRIP1L | c.2020C>T (p.Gln674Ter) n.2444C>T c.2032C>T (p.Gln678Ter) c.265C>T (p.Gln89Ter) n.2064C>T n.2075C>T | |
| 16 | g.53652667G>C | CA395916824 | RPGRIP1L | c.2020C>G (p.Gln674Glu) n.2444C>G c.2032C>G (p.Gln678Glu) c.265C>G (p.Gln89Glu) n.2064C>G n.2075C>G | |
| 16 | g.53652667G>T | CA395916825 | RPGRIP1L | c.2020C>A (p.Gln674Lys) n.2444C>A c.2032C>A (p.Gln678Lys) c.265C>A (p.Gln89Lys) n.2064C>A n.2075C>A | |
| 16 | g.53652668A>C | CA395916826 | RPGRIP1L | c.2019T>G (p.Ile673Met) n.2443T>G c.2031T>G (p.Ile677Met) c.264T>G (p.Ile88Met) n.2063T>G n.2074T>G | gnomAD v4 |
| 16 | g.53652668A>G | CA495536744 | RPGRIP1L | c.2019T>C (p.Ile673=) n.2443T>C c.2031T>C (p.Ile677=) c.264T>C (p.Ile88=) n.2063T>C n.2074T>C | |
| 16 | g.53652668A>T | CA495536745 | RPGRIP1L | c.2019T>A (p.Ile673=) n.2443T>A c.2031T>A (p.Ile677=) c.264T>A (p.Ile88=) n.2063T>A n.2074T>A | |
| 16 | g.53652669A= | CA2223266010 | RPGRIP1L | c.2018T= (p.Ile673=) n.2442T= c.2030T= (p.Ile677=) c.263T= (p.Ile88=) n.2062T= n.2073T= | |
| 16 | g.53652669A>C | CA395916828 | RPGRIP1L | c.2018T>G (p.Ile673Ser) n.2442T>G c.2030T>G (p.Ile677Ser) c.263T>G (p.Ile88Ser) n.2062T>G n.2073T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53652669A>G | CA395916827 | RPGRIP1L | c.2018T>C (p.Ile673Thr) n.2442T>C c.2030T>C (p.Ile677Thr) c.263T>C (p.Ile88Thr) n.2062T>C n.2073T>C | |
| 16 | g.53652669A>T | CA281343973 | RPGRIP1L | c.2018T>A (p.Ile673Asn) n.2442T>A c.2030T>A (p.Ile677Asn) c.263T>A (p.Ile88Asn) n.2062T>A n.2073T>A | ClinVar dbSNP |
| 16 | g.53652670T>A | CA395916829 | RPGRIP1L | c.2017A>T (p.Ile673Phe) n.2441A>T c.2029A>T (p.Ile677Phe) c.262A>T (p.Ile88Phe) n.2061A>T n.2072A>T | gnomAD v3 gnomAD v4 |
| 16 | g.53652670T>C | CA395916830 | RPGRIP1L | c.2017A>G (p.Ile673Val) n.2441A>G c.2029A>G (p.Ile677Val) c.262A>G (p.Ile88Val) n.2061A>G n.2072A>G | ClinVar dbSNP |
| 16 | g.53652670T>G | CA395916831 | RPGRIP1L | c.2017A>C (p.Ile673Leu) n.2441A>C c.2029A>C (p.Ile677Leu) c.262A>C (p.Ile88Leu) n.2061A>C n.2072A>C | |
| 16 | g.53652671A>C | CA395916832 | RPGRIP1L | c.2016T>G (p.Tyr672Ter) n.2440T>G c.2028T>G (p.Tyr676Ter) c.261T>G (p.Tyr87Ter) n.2060T>G n.2071T>G | |
| 16 | g.53652671A>G | CA495536747 | RPGRIP1L | c.2016T>C (p.Tyr672=) n.2440T>C c.2028T>C (p.Tyr676=) c.261T>C (p.Tyr87=) n.2060T>C n.2071T>C | |
| 16 | g.53652671A>T | CA395916833 | RPGRIP1L | c.2016T>A (p.Tyr672Ter) n.2440T>A c.2028T>A (p.Tyr676Ter) c.261T>A (p.Tyr87Ter) n.2060T>A n.2071T>A | |
| 16 | g.53652672T>A | CA395916834 | RPGRIP1L | c.2015A>T (p.Tyr672Phe) n.2439A>T c.2027A>T (p.Tyr676Phe) c.260A>T (p.Tyr87Phe) n.2059A>T n.2070A>T | gnomAD v3 gnomAD v4 |
| 16 | g.53652672T>C | CA395916835 | RPGRIP1L | c.2015A>G (p.Tyr672Cys) n.2439A>G c.2027A>G (p.Tyr676Cys) c.260A>G (p.Tyr87Cys) n.2059A>G n.2070A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.53652672T>G | CA395916836 | RPGRIP1L | c.2015A>C (p.Tyr672Ser) n.2439A>C c.2027A>C (p.Tyr676Ser) c.260A>C (p.Tyr87Ser) n.2059A>C n.2070A>C | |
| 16 | g.53652672T= | CA2223266013 | RPGRIP1L | c.2015A= (p.Tyr672=) n.2439A= c.2027A= (p.Tyr676=) c.260A= (p.Tyr87=) n.2059A= n.2070A= | |
| 16 | g.53652673A= | CA2223266019 | RPGRIP1L | c.2014T= (p.Tyr672=) n.2438T= c.2026T= (p.Tyr676=) c.259T= (p.Tyr87=) n.2058T= n.2069T= | |
| 16 | g.53652673A>C | CA395916837 | RPGRIP1L | c.2014T>G (p.Tyr672Asp) n.2438T>G c.2026T>G (p.Tyr676Asp) c.259T>G (p.Tyr87Asp) n.2058T>G n.2069T>G | |
| 16 | g.53652673A>G | CA395916838 | RPGRIP1L | c.2014T>C (p.Tyr672His) n.2438T>C c.2026T>C (p.Tyr676His) c.259T>C (p.Tyr87His) n.2058T>C n.2069T>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.53652673A>T | CA395916839 | RPGRIP1L | c.2014T>A (p.Tyr672Asn) n.2438T>A c.2026T>A (p.Tyr676Asn) c.259T>A (p.Tyr87Asn) n.2058T>A n.2069T>A | |
| 16 | g.53652674T>A | CA395916840 | RPGRIP1L | c.2013A>T (p.Gln671His) n.2437A>T c.2025A>T (p.Gln675His) c.258A>T (p.Gln86His) n.2057A>T n.2068A>T | |
| 16 | g.53652674T>C | CA495536752 | RPGRIP1L | c.2013A>G (p.Gln671=) n.2437A>G c.2025A>G (p.Gln675=) c.258A>G (p.Gln86=) n.2057A>G n.2068A>G | gnomAD v4 |
| 16 | g.53652674T>G | CA395916841 | RPGRIP1L | c.2013A>C (p.Gln671His) n.2437A>C c.2025A>C (p.Gln675His) c.258A>C (p.Gln86His) n.2057A>C n.2068A>C | |
| 16 | g.53652675T>A | CA395916843 | RPGRIP1L | c.2012A>T (p.Gln671Leu) n.2436A>T c.2024A>T (p.Gln675Leu) c.257A>T (p.Gln86Leu) n.2056A>T n.2067A>T | |
| 16 | g.53652675T>C | CA281343974 | RPGRIP1L | c.2012A>G (p.Gln671Arg) n.2436A>G c.2024A>G (p.Gln675Arg) c.257A>G (p.Gln86Arg) n.2056A>G n.2067A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53652675T>G | CA395916842 | RPGRIP1L | c.2012A>C (p.Gln671Pro) n.2436A>C c.2024A>C (p.Gln675Pro) c.257A>C (p.Gln86Pro) n.2056A>C n.2067A>C | |
| 16 | g.53652675T= | CA2223266023 | RPGRIP1L | c.2012A= (p.Gln671=) n.2436A= c.2024A= (p.Gln675=) c.257A= (p.Gln86=) n.2056A= n.2067A= | |
| 16 | g.53652676G>A | CA8057652 | RPGRIP1L | c.2011C>T (p.Gln671Ter) n.2435C>T c.2023C>T (p.Gln675Ter) c.256C>T (p.Gln86Ter) n.2055C>T n.2066C>T | dbSNP ExAC gnomAD v2 |
| 16 | g.53652676G>C | CA395916844 | RPGRIP1L | c.2011C>G (p.Gln671Glu) n.2435C>G c.2023C>G (p.Gln675Glu) c.256C>G (p.Gln86Glu) n.2055C>G n.2066C>G | |
| 16 | g.53652676G= | CA2223266026 | RPGRIP1L | c.2011C= (p.Gln671=) n.2435C= c.2023C= (p.Gln675=) c.256C= (p.Gln86=) n.2055C= n.2066C= | |
| 16 | g.53652676G>T | CA395916845 | RPGRIP1L | c.2011C>A (p.Gln671Lys) n.2435C>A c.2023C>A (p.Gln675Lys) c.256C>A (p.Gln86Lys) n.2055C>A n.2066C>A | |
| 16 | g.53652677C>A | CA395916846 | RPGRIP1L | c.2010G>T (p.Leu670Phe) n.2434G>T c.2022G>T (p.Leu674Phe) c.255G>T (p.Leu85Phe) n.2054G>T n.2065G>T | |
| 16 | g.53652677C>G | CA395916847 | RPGRIP1L | c.2010G>C (p.Leu670Phe) n.2434G>C c.2022G>C (p.Leu674Phe) c.255G>C (p.Leu85Phe) n.2054G>C n.2065G>C | |
| 16 | g.53652677C>T | CA495536758 | RPGRIP1L | c.2010G>A (p.Leu670=) n.2434G>A c.2022G>A (p.Leu674=) c.255G>A (p.Leu85=) n.2054G>A n.2065G>A | |
| 16 | g.53652678A= | CA2223266030 | RPGRIP1L | c.2009T= (p.Leu670=) n.2433T= c.2021T= (p.Leu674=) c.254T= (p.Leu85=) n.2053T= n.2064T= | |
| 16 | g.53652678A>C | CA8057653 | RPGRIP1L | c.2009T>G (p.Leu670Trp) n.2433T>G c.2021T>G (p.Leu674Trp) c.254T>G (p.Leu85Trp) n.2053T>G n.2064T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53652678A>G | CA395916848 | RPGRIP1L | c.2009T>C (p.Leu670Ser) n.2433T>C c.2021T>C (p.Leu674Ser) c.254T>C (p.Leu85Ser) n.2053T>C n.2064T>C | |
| 16 | g.53652678A>T | CA395916849 | RPGRIP1L | c.2009T>A (p.Leu670Ter) n.2433T>A c.2021T>A (p.Leu674Ter) c.254T>A (p.Leu85Ter) n.2053T>A n.2064T>A | |
| 16 | g.53652682dup | CA2740093366 | RPGRIP1L | c.2009dup (p.Leu670PhefsTer12) n.2433dup c.2021dup (p.Leu674PhefsTer12) c.254dup (p.Leu85PhefsTer12) n.2053dup n.2064dup | ClinVar |
| 16 | g.53652682del | CA645598420 | RPGRIP1L | c.2009del (p.Leu670CysfsTer29) n.2433del c.2021del (p.Leu674CysfsTer29) c.254del (p.Leu85CysfsTer29) n.2053del n.2064del | COSMIC |
| 16 | g.53652679A= | CA2223266033 | RPGRIP1L | c.2008T= (p.Leu670=) n.2432T= c.2020T= (p.Leu674=) c.253T= (p.Leu85=) n.2052T= n.2063T= | |
| 16 | g.53652679A>C | CA395916850 | RPGRIP1L | c.2008T>G (p.Leu670Val) n.2432T>G c.2020T>G (p.Leu674Val) c.253T>G (p.Leu85Val) n.2052T>G n.2063T>G | |
| 16 | g.53652679A>G | CA495536763 | RPGRIP1L | c.2008T>C (p.Leu670=) n.2432T>C c.2020T>C (p.Leu674=) c.253T>C (p.Leu85=) n.2052T>C n.2063T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.53652679A>T | CA395916851 | RPGRIP1L | c.2008T>A (p.Leu670Met) n.2432T>A c.2020T>A (p.Leu674Met) c.253T>A (p.Leu85Met) n.2052T>A n.2063T>A | |
| 16 | g.53652680A>C | CA395916852 | RPGRIP1L | c.2007T>G (p.Phe669Leu) n.2431T>G c.2019T>G (p.Phe673Leu) c.252T>G (p.Phe84Leu) n.2051T>G n.2062T>G | |
| 16 | g.53652680A>G | CA495536767 | RPGRIP1L | c.2007T>C (p.Phe669=) n.2431T>C c.2019T>C (p.Phe673=) c.252T>C (p.Phe84=) n.2051T>C n.2062T>C | |
| 16 | g.53652680A>T | CA395916853 | RPGRIP1L | c.2007T>A (p.Phe669Leu) n.2431T>A c.2019T>A (p.Phe673Leu) c.252T>A (p.Phe84Leu) n.2051T>A n.2062T>A | |
| 16 | g.53652681A>C | CA395916854 | RPGRIP1L | c.2006T>G (p.Phe669Cys) n.2430T>G c.2018T>G (p.Phe673Cys) c.251T>G (p.Phe84Cys) n.2050T>G n.2061T>G | |
| 16 | g.53652681A>G | CA395916855 | RPGRIP1L | c.2006T>C (p.Phe669Ser) n.2430T>C c.2018T>C (p.Phe673Ser) c.251T>C (p.Phe84Ser) n.2050T>C n.2061T>C | |
| 16 | g.53652681A>T | CA395916856 | RPGRIP1L | c.2006T>A (p.Phe669Tyr) n.2430T>A c.2018T>A (p.Phe673Tyr) c.251T>A (p.Phe84Tyr) n.2050T>A n.2061T>A | |
| 16 | g.53652682A>C | CA395916859 | RPGRIP1L | c.2005T>G (p.Phe669Val) n.2429T>G c.2017T>G (p.Phe673Val) c.250T>G (p.Phe84Val) n.2049T>G n.2060T>G | |
| 16 | g.53652682A>G | CA395916858 | RPGRIP1L | c.2005T>C (p.Phe669Leu) n.2429T>C c.2017T>C (p.Phe673Leu) c.250T>C (p.Phe84Leu) n.2049T>C n.2060T>C | |
| 16 | g.53652682A>T | CA395916857 | RPGRIP1L | c.2005T>A (p.Phe669Ile) n.2429T>A c.2017T>A (p.Phe673Ile) c.250T>A (p.Phe84Ile) n.2049T>A n.2060T>A | |
| 16 | g.53652683T>A | CA395916860 | RPGRIP1L | c.2004A>T (p.Leu668Phe) n.2428A>T c.2016A>T (p.Leu672Phe) c.249A>T (p.Leu83Phe) n.2048A>T n.2059A>T | gnomAD v4 |
| 16 | g.53652683T>C | CA495536773 | RPGRIP1L | c.2004A>G (p.Leu668=) n.2428A>G c.2016A>G (p.Leu672=) c.249A>G (p.Leu83=) n.2048A>G n.2059A>G | |
| 16 | g.53652683T>G | CA395916861 | RPGRIP1L | c.2004A>C (p.Leu668Phe) n.2428A>C c.2016A>C (p.Leu672Phe) c.249A>C (p.Leu83Phe) n.2048A>C n.2059A>C | |
| 16 | g.53652684A>C | CA395916862 | RPGRIP1L | c.2003T>G (p.Leu668Ter) n.2427T>G c.2015T>G (p.Leu672Ter) c.248T>G (p.Leu83Ter) n.2047T>G n.2058T>G | |
| 16 | g.53652684A>G | CA395916863 | RPGRIP1L | c.2003T>C (p.Leu668Ser) n.2427T>C c.2015T>C (p.Leu672Ser) c.248T>C (p.Leu83Ser) n.2047T>C n.2058T>C | |
| 16 | g.53652684A>T | CA395916864 | RPGRIP1L | c.2003T>A (p.Leu668Ter) n.2427T>A c.2015T>A (p.Leu672Ter) c.248T>A (p.Leu83Ter) n.2047T>A n.2058T>A | ClinVar |
| 16 | g.53652685A>C | CA395916865 | RPGRIP1L | c.2002T>G (p.Leu668Val) n.2426T>G c.2014T>G (p.Leu672Val) c.247T>G (p.Leu83Val) n.2046T>G n.2057T>G | |
| 16 | g.53652685A>G | CA495536778 | RPGRIP1L | c.2002T>C (p.Leu668=) n.2426T>C c.2014T>C (p.Leu672=) c.247T>C (p.Leu83=) n.2046T>C n.2057T>C | |
| 16 | g.53652685A>T | CA395916866 | RPGRIP1L | c.2002T>A (p.Leu668Ile) n.2426T>A c.2014T>A (p.Leu672Ile) c.247T>A (p.Leu83Ile) n.2046T>A n.2057T>A | |
| 16 | g.53652685_53652686delinsAG | CA2223266036 | RPGRIP1L | c.2001_2002delinsCT (p.Asp667=) n.2425_2426delinsCT c.2013_2014delinsCT (p.Asp671=) c.246_247delinsCT (p.Asp82=) n.2045_2046delinsCT n.2056_2057delinsCT | |
| 16 | g.53652686del | CA622655416 | RPGRIP1L | c.2001del (p.Leu668TyrfsTer?) n.2425del c.2013del (p.Leu672TyrfsTer?) c.246del (p.Leu83TyrfsTer?) n.2045del n.2056del | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.53652686G>A | CA495536779 | RPGRIP1L | c.2001C>T (p.Asp667=) n.2425C>T c.2013C>T (p.Asp671=) c.246C>T (p.Asp82=) n.2045C>T n.2056C>T | |
| 16 | g.53652686G>C | CA395916867 | RPGRIP1L | c.2001C>G (p.Asp667Glu) n.2425C>G c.2013C>G (p.Asp671Glu) c.246C>G (p.Asp82Glu) n.2045C>G n.2056C>G | |
| 16 | g.53652686G>T | CA395916868 | RPGRIP1L | c.2001C>A (p.Asp667Glu) n.2425C>A c.2013C>A (p.Asp671Glu) c.246C>A (p.Asp82Glu) n.2045C>A n.2056C>A | |
| 16 | g.53652687T>A | CA395916869 | RPGRIP1L | c.2000A>T (p.Asp667Val) n.2424A>T c.2012A>T (p.Asp671Val) c.245A>T (p.Asp82Val) n.2044A>T n.2055A>T | |
| 16 | g.53652687T>C | CA8057654 | RPGRIP1L | c.2000A>G (p.Asp667Gly) n.2424A>G c.2012A>G (p.Asp671Gly) c.245A>G (p.Asp82Gly) n.2044A>G n.2055A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53652687T>G | CA395916870 | RPGRIP1L | c.2000A>C (p.Asp667Ala) n.2424A>C c.2012A>C (p.Asp671Ala) c.245A>C (p.Asp82Ala) n.2044A>C n.2055A>C | |
| 16 | g.53652687T= | CA2223266044 | RPGRIP1L | c.2000A= (p.Asp667=) n.2424A= c.2012A= (p.Asp671=) c.245A= (p.Asp82=) n.2044A= n.2055A= | |
| 16 | g.53652688C>A | CA395916872 | RPGRIP1L | c.1999G>T (p.Asp667Tyr) n.2423G>T c.2011G>T (p.Asp671Tyr) c.244G>T (p.Asp82Tyr) n.2043G>T n.2054G>T | |
| 16 | g.53652688C>G | CA395916873 | RPGRIP1L | c.1999G>C (p.Asp667His) n.2423G>C c.2011G>C (p.Asp671His) c.244G>C (p.Asp82His) n.2043G>C n.2054G>C | |
| 16 | g.53652688C>T | CA395916871 | RPGRIP1L | c.1999G>A (p.Asp667Asn) n.2423G>A c.2011G>A (p.Asp671Asn) c.244G>A (p.Asp82Asn) n.2043G>A n.2054G>A | |
| 16 | g.53652689A>C | CA395916874 | RPGRIP1L | c.1998T>G (p.Asn666Lys) n.2422T>G c.2010T>G (p.Asn670Lys) c.243T>G (p.Asn81Lys) n.2042T>G n.2053T>G | |
| 16 | g.53652689A>G | CA495536788 | RPGRIP1L | c.1998T>C (p.Asn666=) n.2422T>C c.2010T>C (p.Asn670=) c.243T>C (p.Asn81=) n.2042T>C n.2053T>C | ClinVar |
| 16 | g.53652689A>T | CA395916875 | RPGRIP1L | c.1998T>A (p.Asn666Lys) n.2422T>A c.2010T>A (p.Asn670Lys) c.243T>A (p.Asn81Lys) n.2042T>A n.2053T>A | |
| 16 | g.53652690T>A | CA395916876 | RPGRIP1L | c.1997A>T (p.Asn666Ile) n.2421A>T c.2009A>T (p.Asn670Ile) c.242A>T (p.Asn81Ile) n.2041A>T n.2052A>T | |
| 16 | g.53652690T>C | CA395916877 | RPGRIP1L | c.1997A>G (p.Asn666Ser) n.2421A>G c.2009A>G (p.Asn670Ser) c.242A>G (p.Asn81Ser) n.2041A>G n.2052A>G | |
| 16 | g.53652690T>G | CA395916878 | RPGRIP1L | c.1997A>C (p.Asn666Thr) n.2421A>C c.2009A>C (p.Asn670Thr) c.242A>C (p.Asn81Thr) n.2041A>C n.2052A>C | |
| 16 | g.53652691T>A | CA395916879 | RPGRIP1L | c.1996A>T (p.Asn666Tyr) n.2420A>T c.2008A>T (p.Asn670Tyr) c.241A>T (p.Asn81Tyr) n.2040A>T n.2051A>T | |
| 16 | g.53652691T>C | CA395916880 | RPGRIP1L | c.1996A>G (p.Asn666Asp) n.2420A>G c.2008A>G (p.Asn670Asp) c.241A>G (p.Asn81Asp) n.2040A>G n.2051A>G | ClinVar |
| 16 | g.53652691T>G | CA395916881 | RPGRIP1L | c.1996A>C (p.Asn666His) n.2420A>C c.2008A>C (p.Asn670His) c.241A>C (p.Asn81His) n.2040A>C n.2051A>C | |
| 16 | g.53652692A>C | CA495536791 | RPGRIP1L | c.1995T>G (p.Val665=) n.2419T>G c.2007T>G (p.Val669=) c.240T>G (p.Val80=) n.2039T>G n.2050T>G | |
| 16 | g.53652692A>G | CA495536793 | RPGRIP1L | c.1995T>C (p.Val665=) n.2419T>C c.2007T>C (p.Val669=) c.240T>C (p.Val80=) n.2039T>C n.2050T>C | ClinVar dbSNP |
| 16 | g.53652692A>T | CA495536794 | RPGRIP1L | c.1995T>A (p.Val665=) n.2419T>A c.2007T>A (p.Val669=) c.240T>A (p.Val80=) n.2039T>A n.2050T>A | |
| 16 | g.53652693A>C | CA395916882 | RPGRIP1L | c.1994T>G (p.Val665Gly) n.2418T>G c.2006T>G (p.Val669Gly) c.239T>G (p.Val80Gly) n.2038T>G n.2049T>G | |
| 16 | g.53652693A>G | CA395916883 | RPGRIP1L | c.1994T>C (p.Val665Ala) n.2418T>C c.2006T>C (p.Val669Ala) c.239T>C (p.Val80Ala) n.2038T>C n.2049T>C | |
| 16 | g.53652693A>T | CA395916884 | RPGRIP1L | c.1994T>A (p.Val665Asp) n.2418T>A c.2006T>A (p.Val669Asp) c.239T>A (p.Val80Asp) n.2038T>A n.2049T>A | |
| 16 | g.53652694C>A | CA395916885 | RPGRIP1L | c.1993G>T (p.Val665Phe) n.2417G>T c.2005G>T (p.Val669Phe) c.238G>T (p.Val80Phe) n.2037G>T n.2048G>T | |
| 16 | g.53652694C= | CA2223266047 | RPGRIP1L | c.1993G= (p.Val665=) n.2417G= c.2005G= (p.Val669=) c.238G= (p.Val80=) n.2037G= n.2048G= | |
| 16 | g.53652694C>G | CA395916886 | RPGRIP1L | c.1993G>C (p.Val665Leu) n.2417G>C c.2005G>C (p.Val669Leu) c.238G>C (p.Val80Leu) n.2037G>C n.2048G>C | |
| 16 | g.53652694C>T | CA8057655 | RPGRIP1L | c.1993G>A (p.Val665Ile) n.2417G>A c.2005G>A (p.Val669Ile) c.238G>A (p.Val80Ile) n.2037G>A n.2048G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53652695A= | CA2223266052 | RPGRIP1L | c.1992T= (p.His664=) n.2416T= c.2004T= (p.His668=) c.237T= (p.His79=) n.2036T= n.2047T= | |
| 16 | g.53652695A>C | CA395916887 | RPGRIP1L | c.1992T>G (p.His664Gln) n.2416T>G c.2004T>G (p.His668Gln) c.237T>G (p.His79Gln) n.2036T>G n.2047T>G | |
| 16 | g.53652695A>G | CA495536800 | RPGRIP1L | c.1992T>C (p.His664=) n.2416T>C c.2004T>C (p.His668=) c.237T>C (p.His79=) n.2036T>C n.2047T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53652695A>T | CA395916888 | RPGRIP1L | c.1992T>A (p.His664Gln) n.2416T>A c.2004T>A (p.His668Gln) c.237T>A (p.His79Gln) n.2036T>A n.2047T>A | |
| 16 | g.53652696T>A | CA395916889 | RPGRIP1L | c.1991A>T (p.His664Leu) n.2415A>T c.2003A>T (p.His668Leu) c.236A>T (p.His79Leu) n.2035A>T n.2046A>T | |
| 16 | g.53652696T>C | CA8057656 | RPGRIP1L | c.1991A>G (p.His664Arg) n.2415A>G c.2003A>G (p.His668Arg) c.236A>G (p.His79Arg) n.2035A>G n.2046A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53652696T>G | CA8057657 | RPGRIP1L | c.1991A>C (p.His664Pro) n.2415A>C c.2003A>C (p.His668Pro) c.236A>C (p.His79Pro) n.2035A>C n.2046A>C | dbSNP ExAC gnomAD v2 |
| 16 | g.53652696T= | CA2223266055 | RPGRIP1L | c.1991A= (p.His664=) n.2415A= c.2003A= (p.His668=) c.236A= (p.His79=) n.2035A= n.2046A= | |
| 16 | g.53652697G>A | CA395916891 | RPGRIP1L | c.1990C>T (p.His664Tyr) n.2414C>T c.2002C>T (p.His668Tyr) c.235C>T (p.His79Tyr) n.2034C>T n.2045C>T | |
| 16 | g.53652697G>C | CA8057658 | RPGRIP1L | c.1990C>G (p.His664Asp) n.2414C>G c.2002C>G (p.His668Asp) c.235C>G (p.His79Asp) n.2034C>G n.2045C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53652697G= | CA2223266059 | RPGRIP1L | c.1990C= (p.His664=) n.2414C= c.2002C= (p.His668=) c.235C= (p.His79=) n.2034C= n.2045C= | |
| 16 | g.53652697G>T | CA395916890 | RPGRIP1L | c.1990C>A (p.His664Asn) n.2414C>A c.2002C>A (p.His668Asn) c.235C>A (p.His79Asn) n.2034C>A n.2045C>A | |
| 16 | g.53652698A>C | CA495536809 | RPGRIP1L | c.1989T>G (p.Val663=) n.2413T>G c.2001T>G (p.Val667=) c.234T>G (p.Val78=) n.2033T>G n.2044T>G | gnomAD v4 |
| 16 | g.53652698A>G | CA495536814 | RPGRIP1L | c.1989T>C (p.Val663=) n.2413T>C c.2001T>C (p.Val667=) c.234T>C (p.Val78=) n.2033T>C n.2044T>C | |
| 16 | g.53652698A>T | CA495536811 | RPGRIP1L | c.1989T>A (p.Val663=) n.2413T>A c.2001T>A (p.Val667=) c.234T>A (p.Val78=) n.2033T>A n.2044T>A | |
| 16 | g.53652699A>C | CA395916892 | RPGRIP1L | c.1988T>G (p.Val663Gly) n.2412T>G c.2000T>G (p.Val667Gly) c.233T>G (p.Val78Gly) n.2032T>G n.2043T>G | |
| 16 | g.53652699A>G | CA395916893 | RPGRIP1L | c.1988T>C (p.Val663Ala) n.2412T>C c.2000T>C (p.Val667Ala) c.233T>C (p.Val78Ala) n.2032T>C n.2043T>C | gnomAD v4 |
| 16 | g.53652699A>T | CA395916894 | RPGRIP1L | c.1988T>A (p.Val663Asp) n.2412T>A c.2000T>A (p.Val667Asp) c.233T>A (p.Val78Asp) n.2032T>A n.2043T>A | |
| 16 | g.53652700C>A | CA395916895 | RPGRIP1L | c.1987G>T (p.Val663Phe) n.2411G>T c.1999G>T (p.Val667Phe) c.232G>T (p.Val78Phe) n.2031G>T n.2042G>T | |
| 16 | g.53652700C= | CA2223266068 | RPGRIP1L | c.1987G= (p.Val663=) n.2411G= c.1999G= (p.Val667=) c.232G= (p.Val78=) n.2031G= n.2042G= | |
| 16 | g.53652700C>G | CA8057659 | RPGRIP1L | c.1987G>C (p.Val663Leu) n.2411G>C c.1999G>C (p.Val667Leu) c.232G>C (p.Val78Leu) n.2031G>C n.2042G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53652700C>T | CA8057660 | RPGRIP1L | c.1987G>A (p.Val663Ile) n.2411G>A c.1999G>A (p.Val667Ile) c.232G>A (p.Val78Ile) n.2031G>A n.2042G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |