| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 16 | g.53652701A>C | CA495536819 | RPGRIP1L | c.1986T>G (p.Leu662=) n.2410T>G c.1998T>G (p.Leu666=) c.231T>G (p.Leu77=) n.2030T>G n.2041T>G | |
| 16 | g.53652701A>G | CA495536820 | RPGRIP1L | c.1986T>C (p.Leu662=) n.2410T>C c.1998T>C (p.Leu666=) c.231T>C (p.Leu77=) n.2030T>C n.2041T>C | ClinVar dbSNP |
| 16 | g.53652701A>T | CA495536821 | RPGRIP1L | c.1986T>A (p.Leu662=) n.2410T>A c.1998T>A (p.Leu666=) c.231T>A (p.Leu77=) n.2030T>A n.2041T>A | |
| 16 | g.53652702A>C | CA395916897 | RPGRIP1L | c.1985T>G (p.Leu662Arg) n.2409T>G c.1997T>G (p.Leu666Arg) c.230T>G (p.Leu77Arg) n.2029T>G n.2040T>G | |
| 16 | g.53652702A>G | CA395916898 | RPGRIP1L | c.1985T>C (p.Leu662Pro) n.2409T>C c.1997T>C (p.Leu666Pro) c.230T>C (p.Leu77Pro) n.2029T>C n.2040T>C | gnomAD v4 |
| 16 | g.53652702A>T | CA395916896 | RPGRIP1L | c.1985T>A (p.Leu662His) n.2409T>A c.1997T>A (p.Leu666His) c.230T>A (p.Leu77His) n.2029T>A n.2040T>A | |
| 16 | g.53652703G>A | CA395916901 | RPGRIP1L | c.1984C>T (p.Leu662Phe) n.2408C>T c.1996C>T (p.Leu666Phe) c.229C>T (p.Leu77Phe) n.2028C>T n.2039C>T | |
| 16 | g.53652703G>C | CA395916899 | RPGRIP1L | c.1984C>G (p.Leu662Val) n.2408C>G c.1996C>G (p.Leu666Val) c.229C>G (p.Leu77Val) n.2028C>G n.2039C>G | gnomAD v4 |
| 16 | g.53652703G>T | CA395916900 | RPGRIP1L | c.1984C>A (p.Leu662Ile) n.2408C>A c.1996C>A (p.Leu666Ile) c.229C>A (p.Leu77Ile) n.2028C>A n.2039C>A | |
| 16 | g.53652704A= | CA2223266075 | RPGRIP1L | c.1983T= (p.Tyr661=) n.2407T= c.1995T= (p.Tyr665=) c.228T= (p.Tyr76=) n.2027T= n.2038T= | |
| 16 | g.53652704A>C | CA281343992 | RPGRIP1L | c.1983T>G (p.Tyr661Ter) n.2407T>G c.1995T>G (p.Tyr665Ter) c.228T>G (p.Tyr76Ter) n.2027T>G n.2038T>G | dbSNP |
| 16 | g.53652704A>G | CA495536826 | RPGRIP1L | c.1983T>C (p.Tyr661=) n.2407T>C c.1995T>C (p.Tyr665=) c.228T>C (p.Tyr76=) n.2027T>C n.2038T>C | |
| 16 | g.53652704A>T | CA395916902 | RPGRIP1L | c.1983T>A (p.Tyr661Ter) n.2407T>A c.1995T>A (p.Tyr665Ter) c.228T>A (p.Tyr76Ter) n.2027T>A n.2038T>A | |
| 16 | g.53652705T>A | CA395916903 | RPGRIP1L | c.1982A>T (p.Tyr661Phe) n.2406A>T c.1994A>T (p.Tyr665Phe) c.227A>T (p.Tyr76Phe) n.2026A>T n.2037A>T | |
| 16 | g.53652705T>C | CA8057661 | RPGRIP1L | c.1982A>G (p.Tyr661Cys) n.2406A>G c.1994A>G (p.Tyr665Cys) c.227A>G (p.Tyr76Cys) n.2026A>G n.2037A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53652705T>G | CA395916904 | RPGRIP1L | c.1982A>C (p.Tyr661Ser) n.2406A>C c.1994A>C (p.Tyr665Ser) c.227A>C (p.Tyr76Ser) n.2026A>C n.2037A>C | |
| 16 | g.53652705T= | CA2223266079 | RPGRIP1L | c.1982A= (p.Tyr661=) n.2406A= c.1994A= (p.Tyr665=) c.227A= (p.Tyr76=) n.2026A= n.2037A= | |
| 16 | g.53652706A>C | CA395916905 | RPGRIP1L | c.1981T>G (p.Tyr661Asp) n.2405T>G c.1993T>G (p.Tyr665Asp) c.226T>G (p.Tyr76Asp) n.2025T>G n.2036T>G | |
| 16 | g.53652706A>G | CA395916906 | RPGRIP1L | c.1981T>C (p.Tyr661His) n.2405T>C c.1993T>C (p.Tyr665His) c.226T>C (p.Tyr76His) n.2025T>C n.2036T>C | |
| 16 | g.53652706A>T | CA395916907 | RPGRIP1L | c.1981T>A (p.Tyr661Asn) n.2405T>A c.1993T>A (p.Tyr665Asn) c.226T>A (p.Tyr76Asn) n.2025T>A n.2036T>A | |
| 16 | g.53652707T>A | CA395916908 | RPGRIP1L | c.1980A>T (p.Gln660His) n.2404A>T c.1992A>T (p.Gln664His) c.225A>T (p.Gln75His) n.2024A>T n.2035A>T | |
| 16 | g.53652707T>C | CA495536834 | RPGRIP1L | c.1980A>G (p.Gln660=) n.2404A>G c.1992A>G (p.Gln664=) c.225A>G (p.Gln75=) n.2024A>G n.2035A>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.53652707T>G | CA395916909 | RPGRIP1L | c.1980A>C (p.Gln660His) n.2404A>C c.1992A>C (p.Gln664His) c.225A>C (p.Gln75His) n.2024A>C n.2035A>C | |
| 16 | g.53652707T= | CA2223266083 | RPGRIP1L | c.1980A= (p.Gln660=) n.2404A= c.1992A= (p.Gln664=) c.225A= (p.Gln75=) n.2024A= n.2035A= | |
| 16 | g.53652708T>A | CA395916911 | RPGRIP1L | c.1979A>T (p.Gln660Leu) n.2403A>T c.1991A>T (p.Gln664Leu) c.224A>T (p.Gln75Leu) n.2023A>T n.2034A>T | |
| 16 | g.53652708T>C | CA395916912 | RPGRIP1L | c.1979A>G (p.Gln660Arg) n.2403A>G c.1991A>G (p.Gln664Arg) c.224A>G (p.Gln75Arg) n.2023A>G n.2034A>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.53652708T>G | CA395916910 | RPGRIP1L | c.1979A>C (p.Gln660Pro) n.2403A>C c.1991A>C (p.Gln664Pro) c.224A>C (p.Gln75Pro) n.2023A>C n.2034A>C | |
| 16 | g.53652708T= | CA2223266085 | RPGRIP1L | c.1979A= (p.Gln660=) n.2403A= c.1991A= (p.Gln664=) c.224A= (p.Gln75=) n.2023A= n.2034A= | |
| 16 | g.53652709G>A | CA395916913 | RPGRIP1L | c.1978C>T (p.Gln660Ter) n.2402C>T c.1990C>T (p.Gln664Ter) c.223C>T (p.Gln75Ter) n.2022C>T n.2033C>T | ClinVar dbSNP |
| 16 | g.53652709G>C | CA395916914 | RPGRIP1L | c.1978C>G (p.Gln660Glu) n.2402C>G c.1990C>G (p.Gln664Glu) c.223C>G (p.Gln75Glu) n.2022C>G n.2033C>G | |
| 16 | g.53652709G>T | CA395916915 | RPGRIP1L | c.1978C>A (p.Gln660Lys) n.2402C>A c.1990C>A (p.Gln664Lys) c.223C>A (p.Gln75Lys) n.2022C>A n.2033C>A | |
| 16 | g.53652710A>C | CA495536843 | RPGRIP1L | c.1977T>G (p.Ser659=) n.2401T>G c.1989T>G (p.Ser663=) c.222T>G (p.Ser74=) n.2021T>G n.2032T>G | |
| 16 | g.53652710A>G | CA495536845 | RPGRIP1L | c.1977T>C (p.Ser659=) n.2401T>C c.1989T>C (p.Ser663=) c.222T>C (p.Ser74=) n.2021T>C n.2032T>C | |
| 16 | g.53652710A>T | CA495536844 | RPGRIP1L | c.1977T>A (p.Ser659=) n.2401T>A c.1989T>A (p.Ser663=) c.222T>A (p.Ser74=) n.2021T>A n.2032T>A | |
| 16 | g.53652710_53652715delinsAGAAGT | CA2223266090 | RPGRIP1L | c.1972_1977delinsACTTCT (p.Thr658=) n.2396_2401delinsACTTCT c.1984_1989delinsACTTCT (p.Thr662=) c.217_222delinsACTTCT (p.Thr73=) n.2016_2021delinsACTTCT n.2027_2032delinsACTTCT | |
| 16 | g.53652711G>A | CA395916916 | RPGRIP1L | c.1976C>T (p.Ser659Phe) n.2400C>T c.1988C>T (p.Ser663Phe) c.221C>T (p.Ser74Phe) n.2020C>T n.2031C>T | |
| 16 | g.53652711G>C | CA395916917 | RPGRIP1L | c.1976C>G (p.Ser659Cys) n.2400C>G c.1988C>G (p.Ser663Cys) c.221C>G (p.Ser74Cys) n.2020C>G n.2031C>G | |
| 16 | g.53652711G>T | CA395916918 | RPGRIP1L | c.1976C>A (p.Ser659Tyr) n.2400C>A c.1988C>A (p.Ser663Tyr) c.221C>A (p.Ser74Tyr) n.2020C>A n.2031C>A | |
| 16 | g.53652711_53652712delinsGA | CA2223266094 | RPGRIP1L | c.1975_1976delinsTC (p.Ser659=) n.2399_2400delinsTC c.1987_1988delinsTC (p.Ser663=) c.220_221delinsTC (p.Ser74=) n.2019_2020delinsTC n.2030_2031delinsTC | |
| 16 | g.53652716_53652720del | CA2223266098 | RPGRIP1L | c.1972_1976del (p.Thr658SerfsTer7) n.2396_2400del c.1984_1988del (p.Thr662SerfsTer7) c.217_221del (p.Thr73SerfsTer7) n.2016_2020del n.2027_2031del | dbSNP |
| 16 | g.53652712A= | CA2223266104 | RPGRIP1L | c.1975T= (p.Ser659=) n.2399T= c.1987T= (p.Ser663=) c.220T= (p.Ser74=) n.2019T= n.2030T= | |
| 16 | g.53652712A>C | CA395916919 | RPGRIP1L | c.1975T>G (p.Ser659Ala) n.2399T>G c.1987T>G (p.Ser663Ala) c.220T>G (p.Ser74Ala) n.2019T>G n.2030T>G | |
| 16 | g.53652712A>G | CA210651 | RPGRIP1L | c.1975T>C (p.Ser659Pro) n.2399T>C c.1987T>C (p.Ser663Pro) c.220T>C (p.Ser74Pro) n.2019T>C n.2030T>C | ClinVar dbSNP |
| 16 | g.53652712A>T | CA395916920 | RPGRIP1L | c.1975T>A (p.Ser659Thr) n.2399T>A c.1987T>A (p.Ser663Thr) c.220T>A (p.Ser74Thr) n.2019T>A n.2030T>A | |
| 16 | g.53652713del | CA8057662 | RPGRIP1L | c.1975del (p.Ser659LeufsTer?) n.2399del c.1987del (p.Ser663LeufsTer?) c.220del (p.Ser74LeufsTer?) n.2019del n.2030del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53652713A>C | CA495536851 | RPGRIP1L | c.1974T>G (p.Thr658=) n.2398T>G c.1986T>G (p.Thr662=) c.219T>G (p.Thr73=) n.2018T>G n.2029T>G | |
| 16 | g.53652713A>G | CA495536852 | RPGRIP1L | c.1974T>C (p.Thr658=) n.2398T>C c.1986T>C (p.Thr662=) c.219T>C (p.Thr73=) n.2018T>C n.2029T>C | ClinVar |
| 16 | g.53652713A>T | CA495536853 | RPGRIP1L | c.1974T>A (p.Thr658=) n.2398T>A c.1986T>A (p.Thr662=) c.219T>A (p.Thr73=) n.2018T>A n.2029T>A | |
| 16 | g.53652714G>A | CA395916921 | RPGRIP1L | c.1973C>T (p.Thr658Ile) n.2397C>T c.1985C>T (p.Thr662Ile) c.218C>T (p.Thr73Ile) n.2017C>T n.2028C>T | gnomAD v4 |
| 16 | g.53652714G>C | CA395916922 | RPGRIP1L | c.1973C>G (p.Thr658Ser) n.2397C>G c.1985C>G (p.Thr662Ser) c.218C>G (p.Thr73Ser) n.2017C>G n.2028C>G | |
| 16 | g.53652714G>T | CA395916923 | RPGRIP1L | c.1973C>A (p.Thr658Asn) n.2397C>A c.1985C>A (p.Thr662Asn) c.218C>A (p.Thr73Asn) n.2017C>A n.2028C>A | |
| 16 | g.53652715T>A | CA395916925 | RPGRIP1L | c.1972A>T (p.Thr658Ser) n.2396A>T c.1984A>T (p.Thr662Ser) c.217A>T (p.Thr73Ser) n.2016A>T n.2027A>T | |
| 16 | g.53652715T>C | CA395916924 | RPGRIP1L | c.1972A>G (p.Thr658Ala) n.2396A>G c.1984A>G (p.Thr662Ala) c.217A>G (p.Thr73Ala) n.2016A>G n.2027A>G | ClinVar dbSNP |
| 16 | g.53652715T>G | CA8057663 | RPGRIP1L | c.1972A>C (p.Thr658Pro) n.2396A>C c.1984A>C (p.Thr662Pro) c.217A>C (p.Thr73Pro) n.2016A>C n.2027A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53652715T= | CA2223266114 | RPGRIP1L | c.1972A= (p.Thr658=) n.2396A= c.1984A= (p.Thr662=) c.217A= (p.Thr73=) n.2016A= n.2027A= | |
| 16 | g.53652716G>A | CA8057664 | RPGRIP1L | c.1971C>T (p.Phe657=) n.2395C>T c.1983C>T (p.Phe661=) c.216C>T (p.Phe72=) n.2015C>T n.2026C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53652716G>C | CA395916926 | RPGRIP1L | c.1971C>G (p.Phe657Leu) n.2395C>G c.1983C>G (p.Phe661Leu) c.216C>G (p.Phe72Leu) n.2015C>G n.2026C>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.53652716G= | CA2223266119 | RPGRIP1L | c.1971C= (p.Phe657=) n.2395C= c.1983C= (p.Phe661=) c.216C= (p.Phe72=) n.2015C= n.2026C= | |
| 16 | g.53652716G>T | CA281344022 | RPGRIP1L | c.1971C>A (p.Phe657Leu) n.2395C>A c.1983C>A (p.Phe661Leu) c.216C>A (p.Phe72Leu) n.2015C>A n.2026C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53652717A>C | CA395916927 | RPGRIP1L | c.1970T>G (p.Phe657Cys) n.2394T>G c.1982T>G (p.Phe661Cys) c.215T>G (p.Phe72Cys) n.2014T>G n.2025T>G | |
| 16 | g.53652717A>G | CA395916928 | RPGRIP1L | c.1970T>C (p.Phe657Ser) n.2394T>C c.1982T>C (p.Phe661Ser) c.215T>C (p.Phe72Ser) n.2014T>C n.2025T>C | |
| 16 | g.53652717A>T | CA395916929 | RPGRIP1L | c.1970T>A (p.Phe657Tyr) n.2394T>A c.1982T>A (p.Phe661Tyr) c.215T>A (p.Phe72Tyr) n.2014T>A n.2025T>A | |
| 16 | g.53652718A>C | CA395916930 | RPGRIP1L | c.1969T>G (p.Phe657Val) n.2393T>G c.1981T>G (p.Phe661Val) c.214T>G (p.Phe72Val) n.2013T>G n.2024T>G | |
| 16 | g.53652718A>G | CA395916931 | RPGRIP1L | c.1969T>C (p.Phe657Leu) n.2393T>C c.1981T>C (p.Phe661Leu) c.214T>C (p.Phe72Leu) n.2013T>C n.2024T>C | gnomAD v4 |
| 16 | g.53652718A>T | CA395916932 | RPGRIP1L | c.1969T>A (p.Phe657Ile) n.2393T>A c.1981T>A (p.Phe661Ile) c.214T>A (p.Phe72Ile) n.2013T>A n.2024T>A | |
| 16 | g.53652719G>A | CA495536866 | RPGRIP1L | c.1968C>T (p.Asn656=) n.2392C>T c.1980C>T (p.Asn660=) c.213C>T (p.Asn71=) n.2012C>T n.2023C>T | |
| 16 | g.53652719G>C | CA395916933 | RPGRIP1L | c.1968C>G (p.Asn656Lys) n.2392C>G c.1980C>G (p.Asn660Lys) c.213C>G (p.Asn71Lys) n.2012C>G n.2023C>G | |
| 16 | g.53652719G>T | CA395916934 | RPGRIP1L | c.1968C>A (p.Asn656Lys) n.2392C>A c.1980C>A (p.Asn660Lys) c.213C>A (p.Asn71Lys) n.2012C>A n.2023C>A | |
| 16 | g.53652720T>A | CA395916935 | RPGRIP1L | c.1967A>T (p.Asn656Ile) n.2391A>T c.1979A>T (p.Asn660Ile) c.212A>T (p.Asn71Ile) n.2011A>T n.2022A>T | |
| 16 | g.53652720T>C | CA395916936 | RPGRIP1L | c.1967A>G (p.Asn656Ser) n.2391A>G c.1979A>G (p.Asn660Ser) c.212A>G (p.Asn71Ser) n.2011A>G n.2022A>G | |
| 16 | g.53652720T>G | CA395916937 | RPGRIP1L | c.1967A>C (p.Asn656Thr) n.2391A>C c.1979A>C (p.Asn660Thr) c.212A>C (p.Asn71Thr) n.2011A>C n.2022A>C | |
| 16 | g.53652721T>A | CA395916940 | RPGRIP1L | c.1966A>T (p.Asn656Tyr) n.2390A>T c.1978A>T (p.Asn660Tyr) c.211A>T (p.Asn71Tyr) n.2010A>T n.2021A>T | |
| 16 | g.53652721T>C | CA395916939 | RPGRIP1L | c.1966A>G (p.Asn656Asp) n.2390A>G c.1978A>G (p.Asn660Asp) c.211A>G (p.Asn71Asp) n.2010A>G n.2021A>G | |
| 16 | g.53652721T>G | CA395916938 | RPGRIP1L | c.1966A>C (p.Asn656His) n.2390A>C c.1978A>C (p.Asn660His) c.211A>C (p.Asn71His) n.2010A>C n.2021A>C | |
| 16 | g.53652722A>C | CA395916941 | RPGRIP1L | c.1965T>G (p.Tyr655Ter) n.2389T>G c.1977T>G (p.Tyr659Ter) c.210T>G (p.Tyr70Ter) n.2009T>G n.2020T>G | |
| 16 | g.53652722A>G | CA495536876 | RPGRIP1L | c.1965T>C (p.Tyr655=) n.2389T>C c.1977T>C (p.Tyr659=) c.210T>C (p.Tyr70=) n.2009T>C n.2020T>C | |
| 16 | g.53652722A>T | CA395916942 | RPGRIP1L | c.1965T>A (p.Tyr655Ter) n.2389T>A c.1977T>A (p.Tyr659Ter) c.210T>A (p.Tyr70Ter) n.2009T>A n.2020T>A | |
| 16 | g.53652723del | CA2695223320 | RPGRIP1L | c.1964del (p.Tyr655LeufsTer?) n.2388del c.1976del (p.Tyr659LeufsTer?) c.209del (p.Tyr70LeufsTer?) n.2008del n.2019del | |
| 16 | g.53652723T>A | CA395916943 | RPGRIP1L | c.1964A>T (p.Tyr655Phe) n.2388A>T c.1976A>T (p.Tyr659Phe) c.209A>T (p.Tyr70Phe) n.2008A>T n.2019A>T | |
| 16 | g.53652723T>C | CA395916944 | RPGRIP1L | c.1964A>G (p.Tyr655Cys) n.2388A>G c.1976A>G (p.Tyr659Cys) c.209A>G (p.Tyr70Cys) n.2008A>G n.2019A>G | gnomAD v4 |
| 16 | g.53652723T>G | CA395916945 | RPGRIP1L | c.1964A>C (p.Tyr655Ser) n.2388A>C c.1976A>C (p.Tyr659Ser) c.209A>C (p.Tyr70Ser) n.2008A>C n.2019A>C | |
| 16 | g.53652724A= | CA2223266125 | RPGRIP1L | c.1963T= (p.Tyr655=) n.2387T= c.1975T= (p.Tyr659=) c.208T= (p.Tyr70=) n.2007T= n.2018T= | |
| 16 | g.53652724A>C | CA395916946 | RPGRIP1L | c.1963T>G (p.Tyr655Asp) n.2387T>G c.1975T>G (p.Tyr659Asp) c.208T>G (p.Tyr70Asp) n.2007T>G n.2018T>G | |
| 16 | g.53652724A>G | CA395916947 | RPGRIP1L | c.1963T>C (p.Tyr655His) n.2387T>C c.1975T>C (p.Tyr659His) c.208T>C (p.Tyr70His) n.2007T>C n.2018T>C | dbSNP |
| 16 | g.53652724A>T | CA395916948 | RPGRIP1L | c.1963T>A (p.Tyr655Asn) n.2387T>A c.1975T>A (p.Tyr659Asn) c.208T>A (p.Tyr70Asn) n.2007T>A n.2018T>A | |
| 16 | g.53652725T>A | CA281344026 | RPGRIP1L | c.1962A>T (p.Glu654Asp) n.2386A>T c.1974A>T (p.Glu658Asp) c.207A>T (p.Glu69Asp) n.2006A>T n.2017A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53652725T>C | CA495536880 | RPGRIP1L | c.1962A>G (p.Glu654=) n.2386A>G c.1974A>G (p.Glu658=) c.207A>G (p.Glu69=) n.2006A>G n.2017A>G | |
| 16 | g.53652725T>G | CA395916949 | RPGRIP1L | c.1962A>C (p.Glu654Asp) n.2386A>C c.1974A>C (p.Glu658Asp) c.207A>C (p.Glu69Asp) n.2006A>C n.2017A>C | |
| 16 | g.53652725T= | CA2223266130 | RPGRIP1L | c.1962A= (p.Glu654=) n.2386A= c.1974A= (p.Glu658=) c.207A= (p.Glu69=) n.2006A= n.2017A= | |
| 16 | g.53652726T>A | CA395916950 | RPGRIP1L | c.1961A>T (p.Glu654Val) n.2385A>T c.1973A>T (p.Glu658Val) c.206A>T (p.Glu69Val) n.2005A>T n.2016A>T | |
| 16 | g.53652726T>C | CA395916951 | RPGRIP1L | c.1961A>G (p.Glu654Gly) n.2385A>G c.1973A>G (p.Glu658Gly) c.206A>G (p.Glu69Gly) n.2005A>G n.2016A>G | |
| 16 | g.53652726T>G | CA395916952 | RPGRIP1L | c.1961A>C (p.Glu654Ala) n.2385A>C c.1973A>C (p.Glu658Ala) c.206A>C (p.Glu69Ala) n.2005A>C n.2016A>C | |
| 16 | g.53652727C>A | CA395916953 | RPGRIP1L | c.1960G>T (p.Glu654Ter) n.2384G>T c.1972G>T (p.Glu658Ter) c.205G>T (p.Glu69Ter) n.2004G>T n.2015G>T | |
| 16 | g.53652727C= | CA2223266135 | RPGRIP1L | c.1960G= (p.Glu654=) n.2384G= c.1972G= (p.Glu658=) c.205G= (p.Glu69=) n.2004G= n.2015G= | |
| 16 | g.53652727C>G | CA395916954 | RPGRIP1L | c.1960G>C (p.Glu654Gln) n.2384G>C c.1972G>C (p.Glu658Gln) c.205G>C (p.Glu69Gln) n.2004G>C n.2015G>C | |
| 16 | g.53652727C>T | CA8057665 | RPGRIP1L | c.1960G>A (p.Glu654Lys) n.2384G>A c.1972G>A (p.Glu658Lys) c.205G>A (p.Glu69Lys) n.2004G>A n.2015G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53652728G>A | CA495536883 | RPGRIP1L | c.1959C>T (p.Pro653=) n.2383C>T c.1971C>T (p.Pro657=) c.204C>T (p.Pro68=) n.2003C>T n.2014C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.53652728G>C | CA495536884 | RPGRIP1L | c.1959C>G (p.Pro653=) n.2383C>G c.1971C>G (p.Pro657=) c.204C>G (p.Pro68=) n.2003C>G n.2014C>G | gnomAD v4 |
| 16 | g.53652728G= | CA2223266142 | RPGRIP1L | c.1959C= (p.Pro653=) n.2383C= c.1971C= (p.Pro657=) c.204C= (p.Pro68=) n.2003C= n.2014C= | |
| 16 | g.53652728G>T | CA495536885 | RPGRIP1L | c.1959C>A (p.Pro653=) n.2383C>A c.1971C>A (p.Pro657=) c.204C>A (p.Pro68=) n.2003C>A n.2014C>A | |
| 16 | g.53652730del | CA2573152390 | RPGRIP1L | c.1959del (p.Glu654AsnfsTer?) n.2383del c.1971del (p.Glu658AsnfsTer?) c.204del (p.Glu69AsnfsTer?) n.2003del n.2014del | ClinVar dbSNP |
| 16 | g.53652729G>A | CA395916955 | RPGRIP1L | c.1958C>T (p.Pro653Leu) n.2382C>T c.1970C>T (p.Pro657Leu) c.203C>T (p.Pro68Leu) n.2002C>T n.2013C>T | |
| 16 | g.53652729G>C | CA395916957 | RPGRIP1L | c.1958C>G (p.Pro653Arg) n.2382C>G c.1970C>G (p.Pro657Arg) c.203C>G (p.Pro68Arg) n.2002C>G n.2013C>G | |
| 16 | g.53652729G>T | CA395916956 | RPGRIP1L | c.1958C>A (p.Pro653His) n.2382C>A c.1970C>A (p.Pro657His) c.203C>A (p.Pro68His) n.2002C>A n.2013C>A | |
| 16 | g.53652730G>A | CA395916958 | RPGRIP1L | c.1957C>T (p.Pro653Ser) n.2381C>T c.1969C>T (p.Pro657Ser) c.202C>T (p.Pro68Ser) n.2001C>T n.2012C>T | |
| 16 | g.53652730G>C | CA395916960 | RPGRIP1L | c.1957C>G (p.Pro653Ala) n.2381C>G c.1969C>G (p.Pro657Ala) c.202C>G (p.Pro68Ala) n.2001C>G n.2012C>G | |
| 16 | g.53652730G>T | CA395916959 | RPGRIP1L | c.1957C>A (p.Pro653Thr) n.2381C>A c.1969C>A (p.Pro657Thr) c.202C>A (p.Pro68Thr) n.2001C>A n.2012C>A | |
| 16 | g.53652731A= | CA2223266147 | RPGRIP1L | c.1956T= (p.His652=) n.2380T= c.1968T= (p.His656=) c.201T= (p.His67=) n.2000T= n.2011T= | |
| 16 | g.53652731A>C | CA395916961 | RPGRIP1L | c.1956T>G (p.His652Gln) n.2380T>G c.1968T>G (p.His656Gln) c.201T>G (p.His67Gln) n.2000T>G n.2011T>G | |
| 16 | g.53652731A>G | CA8057666 | RPGRIP1L | c.1956T>C (p.His652=) n.2380T>C c.1968T>C (p.His656=) c.201T>C (p.His67=) n.2000T>C n.2011T>C | dbSNP ExAC gnomAD v2 |
| 16 | g.53652731A>T | CA395916962 | RPGRIP1L | c.1956T>A (p.His652Gln) n.2380T>A c.1968T>A (p.His656Gln) c.201T>A (p.His67Gln) n.2000T>A n.2011T>A | |
| 16 | g.53652732T>A | CA395916963 | RPGRIP1L | c.1955A>T (p.His652Leu) n.2379A>T c.1967A>T (p.His656Leu) c.200A>T (p.His67Leu) n.1999A>T n.2010A>T | |
| 16 | g.53652732T>C | CA395916964 | RPGRIP1L | c.1955A>G (p.His652Arg) n.2379A>G c.1967A>G (p.His656Arg) c.200A>G (p.His67Arg) n.1999A>G n.2010A>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.53652732T>G | CA395916965 | RPGRIP1L | c.1955A>C (p.His652Pro) n.2379A>C c.1967A>C (p.His656Pro) c.200A>C (p.His67Pro) n.1999A>C n.2010A>C | gnomAD v4 |
| 16 | g.53652732T= | CA2223266153 | RPGRIP1L | c.1955A= (p.His652=) n.2379A= c.1967A= (p.His656=) c.200A= (p.His67=) n.1999A= n.2010A= | |
| 16 | g.53652732_53652735delinsTGAA | CA2223266151 | RPGRIP1L | c.1952_1955delinsTTCA (p.Leu651=) n.2376_2379delinsTTCA c.1964_1967delinsTTCA (p.Leu655=) c.197_200delinsTTCA (p.Leu66=) n.1996_1999delinsTTCA n.2007_2010delinsTTCA | |
| 16 | g.53652733G>A | CA395916966 | RPGRIP1L | c.1954C>T (p.His652Tyr) n.2378C>T c.1966C>T (p.His656Tyr) c.199C>T (p.His67Tyr) n.1998C>T n.2009C>T | |
| 16 | g.53652733G>C | CA395916967 | RPGRIP1L | c.1954C>G (p.His652Asp) n.2378C>G c.1966C>G (p.His656Asp) c.199C>G (p.His67Asp) n.1998C>G n.2009C>G | |
| 16 | g.53652733G>T | CA395916968 | RPGRIP1L | c.1954C>A (p.His652Asn) n.2378C>A c.1966C>A (p.His656Asn) c.199C>A (p.His67Asn) n.1998C>A n.2009C>A | |
| 16 | g.53652734_53652736del | CA721639675 | RPGRIP1L | c.1952_1954del (p.Leu651del) n.2376_2378del c.1964_1966del (p.Leu655del) c.197_199del (p.Leu66del) n.1996_1998del n.2007_2009del | dbSNP |
| 16 | g.53652734A>C | CA495784499 | RPGRIP1L | c.1953T>G (p.Leu651=) n.2377T>G c.1965T>G (p.Leu655=) c.198T>G (p.Leu66=) n.1997T>G n.2008T>G | |
| 16 | g.53652734A>G | CA495784500 | RPGRIP1L | c.1953T>C (p.Leu651=) n.2377T>C c.1965T>C (p.Leu655=) c.198T>C (p.Leu66=) n.1997T>C n.2008T>C | |
| 16 | g.53652734A>T | CA495784501 | RPGRIP1L | c.1953T>A (p.Leu651=) n.2377T>A c.1965T>A (p.Leu655=) c.198T>A (p.Leu66=) n.1997T>A n.2008T>A | |
| 16 | g.53652735A= | CA2223266161 | RPGRIP1L | c.1952T= (p.Leu651=) n.2376T= c.1964T= (p.Leu655=) c.197T= (p.Leu66=) n.1996T= n.2007T= | |
| 16 | g.53652735A>C | CA395916969 | RPGRIP1L | c.1952T>G (p.Leu651Arg) n.2376T>G c.1964T>G (p.Leu655Arg) c.197T>G (p.Leu66Arg) n.1996T>G n.2007T>G | |
| 16 | g.53652735A>G | CA8057667 | RPGRIP1L | c.1952T>C (p.Leu651Pro) n.2376T>C c.1964T>C (p.Leu655Pro) c.197T>C (p.Leu66Pro) n.1996T>C n.2007T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53652735A>T | CA395916970 | RPGRIP1L | c.1952T>A (p.Leu651His) n.2376T>A c.1964T>A (p.Leu655His) c.197T>A (p.Leu66His) n.1996T>A n.2007T>A | |
| 16 | g.53652736G>A | CA395916971 | RPGRIP1L | c.1951C>T (p.Leu651Phe) n.2375C>T c.1963C>T (p.Leu655Phe) c.196C>T (p.Leu66Phe) n.1995C>T n.2006C>T | |
| 16 | g.53652736G>C | CA395916972 | RPGRIP1L | c.1951C>G (p.Leu651Val) n.2375C>G c.1963C>G (p.Leu655Val) c.196C>G (p.Leu66Val) n.1995C>G n.2006C>G | |
| 16 | g.53652736G>T | CA395916973 | RPGRIP1L | c.1951C>A (p.Leu651Ile) n.2375C>A c.1963C>A (p.Leu655Ile) c.196C>A (p.Leu66Ile) n.1995C>A n.2006C>A | |
| 16 | g.53652737del | CA2580091686 | RPGRIP1L | c.1951del (p.Leu651PhefsTer?) n.2375del c.1963del (p.Leu655PhefsTer?) c.196del (p.Leu66PhefsTer?) n.1995del n.2006del | ClinVar |
| 16 | g.53652737G>A | CA8057668 | RPGRIP1L | c.1950C>T (p.Gly650=) n.2374C>T c.1962C>T (p.Gly654=) c.195C>T (p.Gly65=) n.1994C>T n.2005C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53652737G>C | CA495784509 | RPGRIP1L | c.1950C>G (p.Gly650=) n.2374C>G c.1962C>G (p.Gly654=) c.195C>G (p.Gly65=) n.1994C>G n.2005C>G | |
| 16 | g.53652737G= | CA2223266166 | RPGRIP1L | c.1950C= (p.Gly650=) n.2374C= c.1962C= (p.Gly654=) c.195C= (p.Gly65=) n.1994C= n.2005C= | |
| 16 | g.53652737G>T | CA495784511 | RPGRIP1L | c.1950C>A (p.Gly650=) n.2374C>A c.1962C>A (p.Gly654=) c.195C>A (p.Gly65=) n.1994C>A n.2005C>A | gnomAD v4 |