Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.47936442A>C | CA356822916 | CNGA1,NIPAL1 | c.2040T>G (p.Ser680Arg) c.2052T>G (p.Ser684Arg) c.2259T>G (p.Ser753Arg) n.478+21738A>C n.563+21738A>C c.2277T>G (p.Ser759Arg) | |
4 | g.47936442A>G | CA439247974 | CNGA1,NIPAL1 | c.2040T>C (p.Ser680=) c.2052T>C (p.Ser684=) c.2259T>C (p.Ser753=) n.478+21738A>G n.563+21738A>G c.2277T>C (p.Ser759=) | |
4 | g.47936442A>T | CA356822917 | CNGA1,NIPAL1 | c.2040T>A (p.Ser680Arg) c.2052T>A (p.Ser684Arg) c.2259T>A (p.Ser753Arg) n.478+21738A>T n.563+21738A>T c.2277T>A (p.Ser759Arg) | |
4 | g.47936443C>A | CA356822918 | CNGA1,NIPAL1 | c.2039G>T (p.Ser680Ile) c.2051G>T (p.Ser684Ile) c.2258G>T (p.Ser753Ile) n.478+21739C>A n.563+21739C>A c.2276G>T (p.Ser759Ile) | |
4 | g.47936443C>G | CA356822919 | CNGA1,NIPAL1 | c.2039G>C (p.Ser680Thr) c.2051G>C (p.Ser684Thr) c.2258G>C (p.Ser753Thr) n.478+21739C>G n.563+21739C>G c.2276G>C (p.Ser759Thr) | |
4 | g.47936443C>T | CA356822920 | CNGA1,NIPAL1 | c.2039G>A (p.Ser680Asn) c.2051G>A (p.Ser684Asn) c.2258G>A (p.Ser753Asn) n.478+21739C>T n.563+21739C>T c.2276G>A (p.Ser759Asn) | |
4 | g.47936444T>A | CA356822921 | CNGA1,NIPAL1 | c.2038A>T (p.Ser680Cys) c.2050A>T (p.Ser684Cys) c.2257A>T (p.Ser753Cys) n.478+21740T>A n.563+21740T>A c.2275A>T (p.Ser759Cys) | |
4 | g.47936444T>C | CA356822922 | CNGA1,NIPAL1 | c.2038A>G (p.Ser680Gly) c.2050A>G (p.Ser684Gly) c.2257A>G (p.Ser753Gly) n.478+21740T>C n.563+21740T>C c.2275A>G (p.Ser759Gly) | dbSNP |
4 | g.47936444T>G | CA356822923 | CNGA1,NIPAL1 | c.2038A>C (p.Ser680Arg) c.2050A>C (p.Ser684Arg) c.2257A>C (p.Ser753Arg) n.478+21740T>G n.563+21740T>G c.2275A>C (p.Ser759Arg) | |
4 | g.47936444T= | CA1455551580 | CNGA1,NIPAL1 | c.2038A= (p.Ser680=) c.2050A= (p.Ser684=) c.2257A= (p.Ser753=) n.478+21740T= n.563+21740T= c.2275A= (p.Ser759=) | |
4 | g.47936445T>A | CA356822924 | CNGA1,NIPAL1 | c.2037A>T (p.Glu679Asp) c.2049A>T (p.Glu683Asp) c.2256A>T (p.Glu752Asp) n.478+21741T>A n.563+21741T>A c.2274A>T (p.Glu758Asp) | |
4 | g.47936445T>C | CA439247976 | CNGA1,NIPAL1 | c.2037A>G (p.Glu679=) c.2049A>G (p.Glu683=) c.2256A>G (p.Glu752=) n.478+21741T>C n.563+21741T>C c.2274A>G (p.Glu758=) | |
4 | g.47936445T>G | CA356822925 | CNGA1,NIPAL1 | c.2037A>C (p.Glu679Asp) c.2049A>C (p.Glu683Asp) c.2256A>C (p.Glu752Asp) n.478+21741T>G n.563+21741T>G c.2274A>C (p.Glu758Asp) | |
4 | g.47936446T>A | CA356822926 | CNGA1,NIPAL1 | c.2036A>T (p.Glu679Val) c.2048A>T (p.Glu683Val) c.2255A>T (p.Glu752Val) n.478+21742T>A n.563+21742T>A c.2273A>T (p.Glu758Val) | |
4 | g.47936446T>C | CA356822927 | CNGA1,NIPAL1 | c.2036A>G (p.Glu679Gly) c.2048A>G (p.Glu683Gly) c.2255A>G (p.Glu752Gly) n.478+21742T>C n.563+21742T>C c.2273A>G (p.Glu758Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936446T>G | CA356822928 | CNGA1,NIPAL1 | c.2036A>C (p.Glu679Ala) c.2048A>C (p.Glu683Ala) c.2255A>C (p.Glu752Ala) n.478+21742T>G n.563+21742T>G c.2273A>C (p.Glu758Ala) | |
4 | g.47936446T= | CA1455551581 | CNGA1,NIPAL1 | c.2036A= (p.Glu679=) c.2048A= (p.Glu683=) c.2255A= (p.Glu752=) n.478+21742T= n.563+21742T= c.2273A= (p.Glu758=) | |
4 | g.47936447C>A | CA356822931 | CNGA1,NIPAL1 | c.2035G>T (p.Glu679Ter) c.2047G>T (p.Glu683Ter) c.2254G>T (p.Glu752Ter) n.478+21743C>A n.563+21743C>A c.2272G>T (p.Glu758Ter) | |
4 | g.47936447C>G | CA356822930 | CNGA1,NIPAL1 | c.2035G>C (p.Glu679Gln) c.2047G>C (p.Glu683Gln) c.2254G>C (p.Glu752Gln) n.478+21743C>G n.563+21743C>G c.2272G>C (p.Glu758Gln) | |
4 | g.47936447C>T | CA356822929 | CNGA1,NIPAL1 | c.2035G>A (p.Glu679Lys) c.2047G>A (p.Glu683Lys) c.2254G>A (p.Glu752Lys) n.478+21743C>T n.563+21743C>T c.2272G>A (p.Glu758Lys) | |
4 | g.47936448C>A | CA439247981 | CNGA1,NIPAL1 | c.2034G>T (p.Ala678=) c.2046G>T (p.Ala682=) c.2253G>T (p.Ala751=) n.478+21744C>A n.563+21744C>A c.2271G>T (p.Ala757=) | |
4 | g.47936448C= | CA1455551582 | CNGA1,NIPAL1 | c.2034G= (p.Ala678=) c.2046G= (p.Ala682=) c.2253G= (p.Ala751=) n.478+21744C= n.563+21744C= c.2271G= (p.Ala757=) | |
4 | g.47936448C>G | CA439247982 | CNGA1,NIPAL1 | c.2034G>C (p.Ala678=) c.2046G>C (p.Ala682=) c.2253G>C (p.Ala751=) n.478+21744C>G n.563+21744C>G c.2271G>C (p.Ala757=) | |
4 | g.47936448C>T | CA2910969 | CNGA1,NIPAL1 | c.2034G>A (p.Ala678=) c.2046G>A (p.Ala682=) c.2253G>A (p.Ala751=) n.478+21744C>T n.563+21744C>T c.2271G>A (p.Ala757=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936449G>A | CA2910970 | CNGA1,NIPAL1 | c.2033C>T (p.Ala678Val) c.2045C>T (p.Ala682Val) c.2252C>T (p.Ala751Val) n.478+21745G>A n.563+21745G>A c.2270C>T (p.Ala757Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936449G>C | CA356822932 | CNGA1,NIPAL1 | c.2033C>G (p.Ala678Gly) c.2045C>G (p.Ala682Gly) c.2252C>G (p.Ala751Gly) n.478+21745G>C n.563+21745G>C c.2270C>G (p.Ala757Gly) | COSMIC COSMIC |
4 | g.47936449G= | CA1455551583 | CNGA1,NIPAL1 | c.2033C= (p.Ala678=) c.2045C= (p.Ala682=) c.2252C= (p.Ala751=) n.478+21745G= n.563+21745G= c.2270C= (p.Ala757=) | |
4 | g.47936449G>T | CA356822933 | CNGA1,NIPAL1 | c.2033C>A (p.Ala678Glu) c.2045C>A (p.Ala682Glu) c.2252C>A (p.Ala751Glu) n.478+21745G>T n.563+21745G>T c.2270C>A (p.Ala757Glu) | |
4 | g.47936450C>A | CA356822934 | CNGA1,NIPAL1 | c.2032G>T (p.Ala678Ser) c.2044G>T (p.Ala682Ser) c.2251G>T (p.Ala751Ser) n.478+21746C>A n.563+21746C>A c.2269G>T (p.Ala757Ser) | |
4 | g.47936450C>G | CA356822935 | CNGA1,NIPAL1 | c.2032G>C (p.Ala678Pro) c.2044G>C (p.Ala682Pro) c.2251G>C (p.Ala751Pro) n.478+21746C>G n.563+21746C>G c.2269G>C (p.Ala757Pro) | |
4 | g.47936450C>T | CA356822936 | CNGA1,NIPAL1 | c.2032G>A (p.Ala678Thr) c.2044G>A (p.Ala682Thr) c.2251G>A (p.Ala751Thr) n.478+21746C>T n.563+21746C>T c.2269G>A (p.Ala757Thr) | |
4 | g.47936451T>A | CA439247985 | CNGA1,NIPAL1 | c.2031A>T (p.Gly677=) c.2043A>T (p.Gly681=) c.2250A>T (p.Gly750=) n.478+21747T>A n.563+21747T>A c.2268A>T (p.Gly756=) | |
4 | g.47936451T>C | CA439247987 | CNGA1,NIPAL1 | c.2031A>G (p.Gly677=) c.2043A>G (p.Gly681=) c.2250A>G (p.Gly750=) n.478+21747T>C n.563+21747T>C c.2268A>G (p.Gly756=) | |
4 | g.47936451T>G | CA439247988 | CNGA1,NIPAL1 | c.2031A>C (p.Gly677=) c.2043A>C (p.Gly681=) c.2250A>C (p.Gly750=) n.478+21747T>G n.563+21747T>G c.2268A>C (p.Gly756=) | |
4 | g.47936452C>A | CA356822937 | CNGA1,NIPAL1 | c.2030G>T (p.Gly677Val) c.2042G>T (p.Gly681Val) c.2249G>T (p.Gly750Val) n.478+21748C>A n.563+21748C>A c.2267G>T (p.Gly756Val) | |
4 | g.47936452C= | CA1455551584 | CNGA1,NIPAL1 | c.2030G= (p.Gly677=) c.2042G= (p.Gly681=) c.2249G= (p.Gly750=) n.478+21748C= n.563+21748C= c.2267G= (p.Gly756=) | |
4 | g.47936452C>G | CA2910971 | CNGA1,NIPAL1 | c.2030G>C (p.Gly677Ala) c.2042G>C (p.Gly681Ala) c.2249G>C (p.Gly750Ala) n.478+21748C>G n.563+21748C>G c.2267G>C (p.Gly756Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936452C>T | CA356822938 | CNGA1,NIPAL1 | c.2030G>A (p.Gly677Glu) c.2042G>A (p.Gly681Glu) c.2249G>A (p.Gly750Glu) n.478+21748C>T n.563+21748C>T c.2267G>A (p.Gly756Glu) | |
4 | g.47936453C>A | CA356822939 | CNGA1,NIPAL1 | c.2029G>T (p.Gly677Ter) c.2041G>T (p.Gly681Ter) c.2248G>T (p.Gly750Ter) n.478+21749C>A n.563+21749C>A c.2266G>T (p.Gly756Ter) | |
4 | g.47936453C>G | CA356822940 | CNGA1,NIPAL1 | c.2029G>C (p.Gly677Arg) c.2041G>C (p.Gly681Arg) c.2248G>C (p.Gly750Arg) n.478+21749C>G n.563+21749C>G c.2266G>C (p.Gly756Arg) | |
4 | g.47936453C>T | CA356822941 | CNGA1,NIPAL1 | c.2029G>A (p.Gly677Arg) c.2041G>A (p.Gly681Arg) c.2248G>A (p.Gly750Arg) n.478+21749C>T n.563+21749C>T c.2266G>A (p.Gly756Arg) | |
4 | g.47936454A>C | CA439247990 | CNGA1,NIPAL1 | c.2028T>G (p.Pro676=) c.2040T>G (p.Pro680=) c.2247T>G (p.Pro749=) n.478+21750A>C n.563+21750A>C c.2265T>G (p.Pro755=) | |
4 | g.47936454A>G | CA439247991 | CNGA1,NIPAL1 | c.2028T>C (p.Pro676=) c.2040T>C (p.Pro680=) c.2247T>C (p.Pro749=) n.478+21750A>G n.563+21750A>G c.2265T>C (p.Pro755=) | |
4 | g.47936454A>T | CA439247992 | CNGA1,NIPAL1 | c.2028T>A (p.Pro676=) c.2040T>A (p.Pro680=) c.2247T>A (p.Pro749=) n.478+21750A>T n.563+21750A>T c.2265T>A (p.Pro755=) | |
4 | g.47936455G>A | CA2910972 | CNGA1,NIPAL1 | c.2027C>T (p.Pro676Leu) c.2039C>T (p.Pro680Leu) c.2246C>T (p.Pro749Leu) n.478+21751G>A n.563+21751G>A c.2264C>T (p.Pro755Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936455G>C | CA356822943 | CNGA1,NIPAL1 | c.2027C>G (p.Pro676Arg) c.2039C>G (p.Pro680Arg) c.2246C>G (p.Pro749Arg) n.478+21751G>C n.563+21751G>C c.2264C>G (p.Pro755Arg) | |
4 | g.47936455G= | CA1455551585 | CNGA1,NIPAL1 | c.2027C= (p.Pro676=) c.2039C= (p.Pro680=) c.2246C= (p.Pro749=) n.478+21751G= n.563+21751G= c.2264C= (p.Pro755=) | |
4 | g.47936455G>T | CA356822942 | CNGA1,NIPAL1 | c.2027C>A (p.Pro676His) c.2039C>A (p.Pro680His) c.2246C>A (p.Pro749His) n.478+21751G>T n.563+21751G>T c.2264C>A (p.Pro755His) | |
4 | g.47936456G>A | CA356822944 | CNGA1,NIPAL1 | c.2026C>T (p.Pro676Ser) c.2038C>T (p.Pro680Ser) c.2245C>T (p.Pro749Ser) n.478+21752G>A n.563+21752G>A c.2263C>T (p.Pro755Ser) | |
4 | g.47936456G>C | CA356822945 | CNGA1,NIPAL1 | c.2026C>G (p.Pro676Ala) c.2038C>G (p.Pro680Ala) c.2245C>G (p.Pro749Ala) n.478+21752G>C n.563+21752G>C c.2263C>G (p.Pro755Ala) | |
4 | g.47936456G>T | CA356822946 | CNGA1,NIPAL1 | c.2026C>A (p.Pro676Thr) c.2038C>A (p.Pro680Thr) c.2245C>A (p.Pro749Thr) n.478+21752G>T n.563+21752G>T c.2263C>A (p.Pro755Thr) | |
4 | g.47936457T>A | CA439247997 | CNGA1,NIPAL1 | c.2025A>T (p.Gly675=) c.2037A>T (p.Gly679=) c.2244A>T (p.Gly748=) n.478+21753T>A n.563+21753T>A c.2262A>T (p.Gly754=) | |
4 | g.47936457T>C | CA439247998 | CNGA1,NIPAL1 | c.2025A>G (p.Gly675=) c.2037A>G (p.Gly679=) c.2244A>G (p.Gly748=) n.478+21753T>C n.563+21753T>C c.2262A>G (p.Gly754=) | |
4 | g.47936457T>G | CA439247999 | CNGA1,NIPAL1 | c.2025A>C (p.Gly675=) c.2037A>C (p.Gly679=) c.2244A>C (p.Gly748=) n.478+21753T>G n.563+21753T>G c.2262A>C (p.Gly754=) | |
4 | g.47936458C>A | CA356822947 | CNGA1,NIPAL1 | c.2024G>T (p.Gly675Val) c.2036G>T (p.Gly679Val) c.2243G>T (p.Gly748Val) n.478+21754C>A n.563+21754C>A c.2261G>T (p.Gly754Val) | |
4 | g.47936458C= | CA1455551586 | CNGA1,NIPAL1 | c.2024G= (p.Gly675=) c.2036G= (p.Gly679=) c.2243G= (p.Gly748=) n.478+21754C= n.563+21754C= c.2261G= (p.Gly754=) | |
4 | g.47936458C>G | CA356822948 | CNGA1,NIPAL1 | c.2024G>C (p.Gly675Ala) c.2036G>C (p.Gly679Ala) c.2243G>C (p.Gly748Ala) n.478+21754C>G n.563+21754C>G c.2261G>C (p.Gly754Ala) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936458C>T | CA356822949 | CNGA1,NIPAL1 | c.2024G>A (p.Gly675Glu) c.2036G>A (p.Gly679Glu) c.2243G>A (p.Gly748Glu) n.478+21754C>T n.563+21754C>T c.2261G>A (p.Gly754Glu) | gnomAD v4 COSMIC COSMIC |
4 | g.47936459C>A | CA96687724 | CNGA1,NIPAL1 | c.2023G>T (p.Gly675Ter) c.2035G>T (p.Gly679Ter) c.2242G>T (p.Gly748Ter) n.478+21755C>A n.563+21755C>A c.2260G>T (p.Gly754Ter) | dbSNP |
4 | g.47936459C= | CA1455551587 | CNGA1,NIPAL1 | c.2023G= (p.Gly675=) c.2035G= (p.Gly679=) c.2242G= (p.Gly748=) n.478+21755C= n.563+21755C= c.2260G= (p.Gly754=) | |
4 | g.47936459C>G | CA356822950 | CNGA1,NIPAL1 | c.2023G>C (p.Gly675Arg) c.2035G>C (p.Gly679Arg) c.2242G>C (p.Gly748Arg) n.478+21755C>G n.563+21755C>G c.2260G>C (p.Gly754Arg) | gnomAD v4 |
4 | g.47936459C>T | CA356822951 | CNGA1,NIPAL1 | c.2023G>A (p.Gly675Arg) c.2035G>A (p.Gly679Arg) c.2242G>A (p.Gly748Arg) n.478+21755C>T n.563+21755C>T c.2260G>A (p.Gly754Arg) | |
4 | g.47936460C>A | CA356822952 | CNGA1,NIPAL1 | c.2022G>T (p.Glu674Asp) c.2034G>T (p.Glu678Asp) c.2241G>T (p.Glu747Asp) n.478+21756C>A n.563+21756C>A c.2259G>T (p.Glu753Asp) | |
4 | g.47936460C= | CA1455551588 | CNGA1,NIPAL1 | c.2022G= (p.Glu674=) c.2034G= (p.Glu678=) c.2241G= (p.Glu747=) n.478+21756C= n.563+21756C= c.2259G= (p.Glu753=) | |
4 | g.47936460C>G | CA356822953 | CNGA1,NIPAL1 | c.2022G>C (p.Glu674Asp) c.2034G>C (p.Glu678Asp) c.2241G>C (p.Glu747Asp) n.478+21756C>G n.563+21756C>G c.2259G>C (p.Glu753Asp) | dbSNP gnomAD v4 |
4 | g.47936460C>T | CA439248003 | CNGA1,NIPAL1 | c.2022G>A (p.Glu674=) c.2034G>A (p.Glu678=) c.2241G>A (p.Glu747=) n.478+21756C>T n.563+21756C>T c.2259G>A (p.Glu753=) | |
4 | g.47936461T>A | CA356822956 | CNGA1,NIPAL1 | c.2021A>T (p.Glu674Val) c.2033A>T (p.Glu678Val) c.2240A>T (p.Glu747Val) n.478+21757T>A n.563+21757T>A c.2258A>T (p.Glu753Val) | |
4 | g.47936461T>C | CA356822955 | CNGA1,NIPAL1 | c.2021A>G (p.Glu674Gly) c.2033A>G (p.Glu678Gly) c.2240A>G (p.Glu747Gly) n.478+21757T>C n.563+21757T>C c.2258A>G (p.Glu753Gly) | |
4 | g.47936461T>G | CA356822954 | CNGA1,NIPAL1 | c.2021A>C (p.Glu674Ala) c.2033A>C (p.Glu678Ala) c.2240A>C (p.Glu747Ala) n.478+21757T>G n.563+21757T>G c.2258A>C (p.Glu753Ala) | |
4 | g.47936462C>A | CA356822957 | CNGA1,NIPAL1 | c.2020G>T (p.Glu674Ter) c.2032G>T (p.Glu678Ter) c.2239G>T (p.Glu747Ter) n.478+21758C>A n.563+21758C>A c.2257G>T (p.Glu753Ter) | |
4 | g.47936462C= | CA1455551589 | CNGA1,NIPAL1 | c.2020G= (p.Glu674=) c.2032G= (p.Glu678=) c.2239G= (p.Glu747=) n.478+21758C= n.563+21758C= c.2257G= (p.Glu753=) | |
4 | g.47936462C>G | CA356822958 | CNGA1,NIPAL1 | c.2020G>C (p.Glu674Gln) c.2032G>C (p.Glu678Gln) c.2239G>C (p.Glu747Gln) n.478+21758C>G n.563+21758C>G c.2257G>C (p.Glu753Gln) | |
4 | g.47936462C>T | CA96687730 | CNGA1,NIPAL1 | c.2020G>A (p.Glu674Lys) c.2032G>A (p.Glu678Lys) c.2239G>A (p.Glu747Lys) n.478+21758C>T n.563+21758C>T c.2257G>A (p.Glu753Lys) | dbSNP gnomAD v4 |
4 | g.47936463A>C | CA356822959 | CNGA1,NIPAL1 | c.2019T>G (p.Ile673Met) c.2031T>G (p.Ile677Met) c.2238T>G (p.Ile746Met) n.478+21759A>C n.563+21759A>C c.2256T>G (p.Ile752Met) | |
4 | g.47936463A>G | CA439248006 | CNGA1,NIPAL1 | c.2019T>C (p.Ile673=) c.2031T>C (p.Ile677=) c.2238T>C (p.Ile746=) n.478+21759A>G n.563+21759A>G c.2256T>C (p.Ile752=) | gnomAD v4 |
4 | g.47936463A>T | CA439248007 | CNGA1,NIPAL1 | c.2019T>A (p.Ile673=) c.2031T>A (p.Ile677=) c.2238T>A (p.Ile746=) n.478+21759A>T n.563+21759A>T c.2256T>A (p.Ile752=) | |
4 | g.47936464A= | CA1455551590 | CNGA1,NIPAL1 | c.2018T= (p.Ile673=) c.2030T= (p.Ile677=) c.2237T= (p.Ile746=) n.478+21760A= n.563+21760A= c.2255T= (p.Ile752=) | |
4 | g.47936464A>C | CA356822960 | CNGA1,NIPAL1 | c.2018T>G (p.Ile673Ser) c.2030T>G (p.Ile677Ser) c.2237T>G (p.Ile746Ser) n.478+21760A>C n.563+21760A>C c.2255T>G (p.Ile752Ser) | |
4 | g.47936464A>G | CA2910973 | CNGA1,NIPAL1 | c.2018T>C (p.Ile673Thr) c.2030T>C (p.Ile677Thr) c.2237T>C (p.Ile746Thr) n.478+21760A>G n.563+21760A>G c.2255T>C (p.Ile752Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936464A>T | CA356822961 | CNGA1,NIPAL1 | c.2018T>A (p.Ile673Asn) c.2030T>A (p.Ile677Asn) c.2237T>A (p.Ile746Asn) n.478+21760A>T n.563+21760A>T c.2255T>A (p.Ile752Asn) | |
4 | g.47936465T>A | CA356822962 | CNGA1,NIPAL1 | c.2017A>T (p.Ile673Phe) c.2029A>T (p.Ile677Phe) c.2236A>T (p.Ile746Phe) n.478+21761T>A n.563+21761T>A c.2254A>T (p.Ile752Phe) | |
4 | g.47936465T>C | CA356822963 | CNGA1,NIPAL1 | c.2017A>G (p.Ile673Val) c.2029A>G (p.Ile677Val) c.2236A>G (p.Ile746Val) n.478+21761T>C n.563+21761T>C c.2254A>G (p.Ile752Val) | |
4 | g.47936465T>G | CA356822964 | CNGA1,NIPAL1 | c.2017A>C (p.Ile673Leu) c.2029A>C (p.Ile677Leu) c.2236A>C (p.Ile746Leu) n.478+21761T>G n.563+21761T>G c.2254A>C (p.Ile752Leu) | |
4 | g.47936466A>C | CA356822965 | CNGA1,NIPAL1 | c.2016T>G (p.Ser672Arg) c.2028T>G (p.Ser676Arg) c.2235T>G (p.Ser745Arg) n.478+21762A>C n.563+21762A>C c.2253T>G (p.Ser751Arg) | |
4 | g.47936466A>G | CA439248008 | CNGA1,NIPAL1 | c.2016T>C (p.Ser672=) c.2028T>C (p.Ser676=) c.2235T>C (p.Ser745=) n.478+21762A>G n.563+21762A>G c.2253T>C (p.Ser751=) | |
4 | g.47936466A>T | CA356822966 | CNGA1,NIPAL1 | c.2016T>A (p.Ser672Arg) c.2028T>A (p.Ser676Arg) c.2235T>A (p.Ser745Arg) n.478+21762A>T n.563+21762A>T c.2253T>A (p.Ser751Arg) | |
4 | g.47936467C>A | CA356822968 | CNGA1,NIPAL1 | c.2015G>T (p.Ser672Ile) c.2027G>T (p.Ser676Ile) c.2234G>T (p.Ser745Ile) n.478+21763C>A n.563+21763C>A c.2252G>T (p.Ser751Ile) | |
4 | g.47936467C>G | CA356822969 | CNGA1,NIPAL1 | c.2015G>C (p.Ser672Thr) c.2027G>C (p.Ser676Thr) c.2234G>C (p.Ser745Thr) n.478+21763C>G n.563+21763C>G c.2252G>C (p.Ser751Thr) | |
4 | g.47936467C>T | CA356822967 | CNGA1,NIPAL1 | c.2015G>A (p.Ser672Asn) c.2027G>A (p.Ser676Asn) c.2234G>A (p.Ser745Asn) n.478+21763C>T n.563+21763C>T c.2252G>A (p.Ser751Asn) | |
4 | g.47936468T>A | CA356822972 | CNGA1,NIPAL1 | c.2014A>T (p.Ser672Cys) c.2026A>T (p.Ser676Cys) c.2233A>T (p.Ser745Cys) n.478+21764T>A n.563+21764T>A c.2251A>T (p.Ser751Cys) | |
4 | g.47936468T>C | CA356822970 | CNGA1,NIPAL1 | c.2014A>G (p.Ser672Gly) c.2026A>G (p.Ser676Gly) c.2233A>G (p.Ser745Gly) n.478+21764T>C n.563+21764T>C c.2251A>G (p.Ser751Gly) | |
4 | g.47936468T>G | CA356822971 | CNGA1,NIPAL1 | c.2014A>C (p.Ser672Arg) c.2026A>C (p.Ser676Arg) c.2233A>C (p.Ser745Arg) n.478+21764T>G n.563+21764T>G c.2251A>C (p.Ser751Arg) | |
4 | g.47936469T>A | CA439248018 | CNGA1,NIPAL1 | c.2013A>T (p.Ser671=) c.2025A>T (p.Ser675=) c.2232A>T (p.Ser744=) n.478+21765T>A n.563+21765T>A c.2250A>T (p.Ser750=) | |
4 | g.47936469T>C | CA439248016 | CNGA1,NIPAL1 | c.2013A>G (p.Ser671=) c.2025A>G (p.Ser675=) c.2232A>G (p.Ser744=) n.478+21765T>C n.563+21765T>C c.2250A>G (p.Ser750=) | |
4 | g.47936469T>G | CA439248015 | CNGA1,NIPAL1 | c.2013A>C (p.Ser671=) c.2025A>C (p.Ser675=) c.2232A>C (p.Ser744=) n.478+21765T>G n.563+21765T>G c.2250A>C (p.Ser750=) | |
4 | g.47936470G>A | CA356822973 | CNGA1,NIPAL1 | c.2012C>T (p.Ser671Leu) c.2024C>T (p.Ser675Leu) c.2231C>T (p.Ser744Leu) n.478+21766G>A n.563+21766G>A c.2249C>T (p.Ser750Leu) | |
4 | g.47936470G>C | CA356822974 | CNGA1,NIPAL1 | c.2012C>G (p.Ser671Ter) c.2024C>G (p.Ser675Ter) c.2231C>G (p.Ser744Ter) n.478+21766G>C n.563+21766G>C c.2249C>G (p.Ser750Ter) | |
4 | g.47936470G>T | CA356822975 | CNGA1,NIPAL1 | c.2012C>A (p.Ser671Ter) c.2024C>A (p.Ser675Ter) c.2231C>A (p.Ser744Ter) n.478+21766G>T n.563+21766G>T c.2249C>A (p.Ser750Ter) | |
4 | g.47936471A>C | CA356822976 | CNGA1,NIPAL1 | c.2011T>G (p.Ser671Ala) c.2023T>G (p.Ser675Ala) c.2230T>G (p.Ser744Ala) n.478+21767A>C n.563+21767A>C c.2248T>G (p.Ser750Ala) | |
4 | g.47936471A>G | CA356822977 | CNGA1,NIPAL1 | c.2011T>C (p.Ser671Pro) c.2023T>C (p.Ser675Pro) c.2230T>C (p.Ser744Pro) n.478+21767A>G n.563+21767A>G c.2248T>C (p.Ser750Pro) | |
4 | g.47936471A>T | CA356822978 | CNGA1,NIPAL1 | c.2011T>A (p.Ser671Thr) c.2023T>A (p.Ser675Thr) c.2230T>A (p.Ser744Thr) n.478+21767A>T n.563+21767A>T c.2248T>A (p.Ser750Thr) | |
4 | g.47936472A>C | CA356822979 | CNGA1,NIPAL1 | c.2010T>G (p.Phe670Leu) c.2022T>G (p.Phe674Leu) c.2229T>G (p.Phe743Leu) n.478+21768A>C n.563+21768A>C c.2247T>G (p.Phe749Leu) | |
4 | g.47936472A>G | CA439248021 | CNGA1,NIPAL1 | c.2010T>C (p.Phe670=) c.2022T>C (p.Phe674=) c.2229T>C (p.Phe743=) n.478+21768A>G n.563+21768A>G c.2247T>C (p.Phe749=) | |
4 | g.47936472A>T | CA356822980 | CNGA1,NIPAL1 | c.2010T>A (p.Phe670Leu) c.2022T>A (p.Phe674Leu) c.2229T>A (p.Phe743Leu) n.478+21768A>T n.563+21768A>T c.2247T>A (p.Phe749Leu) | |
4 | g.47936473A>C | CA356822981 | CNGA1,NIPAL1 | c.2009T>G (p.Phe670Cys) c.2021T>G (p.Phe674Cys) c.2228T>G (p.Phe743Cys) n.478+21769A>C n.563+21769A>C c.2246T>G (p.Phe749Cys) | |
4 | g.47936473A>G | CA356822982 | CNGA1,NIPAL1 | c.2009T>C (p.Phe670Ser) c.2021T>C (p.Phe674Ser) c.2228T>C (p.Phe743Ser) n.478+21769A>G n.563+21769A>G c.2246T>C (p.Phe749Ser) | |
4 | g.47936473A>T | CA356822983 | CNGA1,NIPAL1 | c.2009T>A (p.Phe670Tyr) c.2021T>A (p.Phe674Tyr) c.2228T>A (p.Phe743Tyr) n.478+21769A>T n.563+21769A>T c.2246T>A (p.Phe749Tyr) | |
4 | g.47936474A= | CA1455551591 | CNGA1,NIPAL1 | c.2008T= (p.Phe670=) c.2020T= (p.Phe674=) c.2227T= (p.Phe743=) n.478+21770A= n.563+21770A= c.2245T= (p.Phe749=) | |
4 | g.47936474A>C | CA356822984 | CNGA1,NIPAL1 | c.2008T>G (p.Phe670Val) c.2020T>G (p.Phe674Val) c.2227T>G (p.Phe743Val) n.478+21770A>C n.563+21770A>C c.2245T>G (p.Phe749Val) | |
4 | g.47936474A>G | CA356822985 | CNGA1,NIPAL1 | c.2008T>C (p.Phe670Leu) c.2020T>C (p.Phe674Leu) c.2227T>C (p.Phe743Leu) n.478+21770A>G n.563+21770A>G c.2245T>C (p.Phe749Leu) | |
4 | g.47936474A>T | CA2910974 | CNGA1,NIPAL1 | c.2008T>A (p.Phe670Ile) c.2020T>A (p.Phe674Ile) c.2227T>A (p.Phe743Ile) n.478+21770A>T n.563+21770A>T c.2245T>A (p.Phe749Ile) | dbSNP ExAC gnomAD v2 |
4 | g.47936475T>A | CA356822986 | CNGA1,NIPAL1 | c.2007A>T (p.Glu669Asp) c.2019A>T (p.Glu673Asp) c.2226A>T (p.Glu742Asp) n.478+21771T>A n.563+21771T>A c.2244A>T (p.Glu748Asp) | |
4 | g.47936475T>C | CA439248026 | CNGA1,NIPAL1 | c.2007A>G (p.Glu669=) c.2019A>G (p.Glu673=) c.2226A>G (p.Glu742=) n.478+21771T>C n.563+21771T>C c.2244A>G (p.Glu748=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936475T>G | CA356822987 | CNGA1,NIPAL1 | c.2007A>C (p.Glu669Asp) c.2019A>C (p.Glu673Asp) c.2226A>C (p.Glu742Asp) n.478+21771T>G n.563+21771T>G c.2244A>C (p.Glu748Asp) | |
4 | g.47936475T= | CA1455551592 | CNGA1,NIPAL1 | c.2007A= (p.Glu669=) c.2019A= (p.Glu673=) c.2226A= (p.Glu742=) n.478+21771T= n.563+21771T= c.2244A= (p.Glu748=) | |
4 | g.47936476T>A | CA356822988 | CNGA1,NIPAL1 | c.2006A>T (p.Glu669Val) c.2018A>T (p.Glu673Val) c.2225A>T (p.Glu742Val) n.478+21772T>A n.563+21772T>A c.2243A>T (p.Glu748Val) | |
4 | g.47936476T>C | CA356822989 | CNGA1,NIPAL1 | c.2006A>G (p.Glu669Gly) c.2018A>G (p.Glu673Gly) c.2225A>G (p.Glu742Gly) n.478+21772T>C n.563+21772T>C c.2243A>G (p.Glu748Gly) | |
4 | g.47936476T>G | CA356822990 | CNGA1,NIPAL1 | c.2006A>C (p.Glu669Ala) c.2018A>C (p.Glu673Ala) c.2225A>C (p.Glu742Ala) n.478+21772T>G n.563+21772T>G c.2243A>C (p.Glu748Ala) | gnomAD v4 |
4 | g.47936477C>A | CA356822991 | CNGA1,NIPAL1 | c.2005G>T (p.Glu669Ter) c.2017G>T (p.Glu673Ter) c.2224G>T (p.Glu742Ter) n.478+21773C>A n.563+21773C>A c.2242G>T (p.Glu748Ter) | |
4 | g.47936477C>G | CA356822992 | CNGA1,NIPAL1 | c.2005G>C (p.Glu669Gln) c.2017G>C (p.Glu673Gln) c.2224G>C (p.Glu742Gln) n.478+21773C>G n.563+21773C>G c.2242G>C (p.Glu748Gln) | gnomAD v4 COSMIC |
4 | g.47936477C>T | CA356822993 | CNGA1,NIPAL1 | c.2005G>A (p.Glu669Lys) c.2017G>A (p.Glu673Lys) c.2224G>A (p.Glu742Lys) n.478+21773C>T n.563+21773C>T c.2242G>A (p.Glu748Lys) | |
4 | g.47936478T>A | CA439248028 | CNGA1,NIPAL1 | c.2004A>T (p.Thr668=) c.2016A>T (p.Thr672=) c.2223A>T (p.Thr741=) n.478+21774T>A n.563+21774T>A c.2241A>T (p.Thr747=) | |
4 | g.47936478T>C | CA439248029 | CNGA1,NIPAL1 | c.2004A>G (p.Thr668=) c.2016A>G (p.Thr672=) c.2223A>G (p.Thr741=) n.478+21774T>C n.563+21774T>C c.2241A>G (p.Thr747=) | |
4 | g.47936478T>G | CA439248030 | CNGA1,NIPAL1 | c.2004A>C (p.Thr668=) c.2016A>C (p.Thr672=) c.2223A>C (p.Thr741=) n.478+21774T>G n.563+21774T>G c.2241A>C (p.Thr747=) | |
4 | g.47936479G>A | CA356822994 | CNGA1,NIPAL1 | c.2003C>T (p.Thr668Ile) c.2015C>T (p.Thr672Ile) c.2222C>T (p.Thr741Ile) n.478+21775G>A n.563+21775G>A c.2240C>T (p.Thr747Ile) | ClinVar dbSNP |
4 | g.47936479G>C | CA2910975 | CNGA1,NIPAL1 | c.2003C>G (p.Thr668Arg) c.2015C>G (p.Thr672Arg) c.2222C>G (p.Thr741Arg) n.478+21775G>C n.563+21775G>C c.2240C>G (p.Thr747Arg) | dbSNP ExAC gnomAD v2 |
4 | g.47936479G= | CA1455551593 | CNGA1,NIPAL1 | c.2003C= (p.Thr668=) c.2015C= (p.Thr672=) c.2222C= (p.Thr741=) n.478+21775G= n.563+21775G= c.2240C= (p.Thr747=) | |
4 | g.47936479G>T | CA356822995 | CNGA1,NIPAL1 | c.2003C>A (p.Thr668Lys) c.2015C>A (p.Thr672Lys) c.2222C>A (p.Thr741Lys) n.478+21775G>T n.563+21775G>T c.2240C>A (p.Thr747Lys) | |
4 | g.47936480T>A | CA356822998 | CNGA1,NIPAL1 | c.2002A>T (p.Thr668Ser) c.2014A>T (p.Thr672Ser) c.2221A>T (p.Thr741Ser) n.478+21776T>A n.563+21776T>A c.2239A>T (p.Thr747Ser) | |
4 | g.47936480T>C | CA356822997 | CNGA1,NIPAL1 | c.2002A>G (p.Thr668Ala) c.2014A>G (p.Thr672Ala) c.2221A>G (p.Thr741Ala) n.478+21776T>C n.563+21776T>C c.2239A>G (p.Thr747Ala) | |
4 | g.47936480T>G | CA356822996 | CNGA1,NIPAL1 | c.2002A>C (p.Thr668Pro) c.2014A>C (p.Thr672Pro) c.2221A>C (p.Thr741Pro) n.478+21776T>G n.563+21776T>G c.2239A>C (p.Thr747Pro) | |
4 | g.47936480dup | CA2670552338 | CNGA1,NIPAL1 | c.2002dup (p.Thr668AsnfsTer7) c.2014dup (p.Thr672AsnfsTer7) c.2221dup (p.Thr741AsnfsTer7) n.478+21776dup n.563+21776dup c.2239dup (p.Thr747AsnfsTer7) | gnomAD v4 |
4 | g.47936481G>A | CA439248033 | CNGA1,NIPAL1 | c.2001C>T (p.Asp667=) c.2013C>T (p.Asp671=) c.2220C>T (p.Asp740=) n.478+21777G>A n.563+21777G>A c.2238C>T (p.Asp746=) | |
4 | g.47936481G>C | CA356823000 | CNGA1,NIPAL1 | c.2001C>G (p.Asp667Glu) c.2013C>G (p.Asp671Glu) c.2220C>G (p.Asp740Glu) n.478+21777G>C n.563+21777G>C c.2238C>G (p.Asp746Glu) | |
4 | g.47936481G>T | CA356822999 | CNGA1,NIPAL1 | c.2001C>A (p.Asp667Glu) c.2013C>A (p.Asp671Glu) c.2220C>A (p.Asp740Glu) n.478+21777G>T n.563+21777G>T c.2238C>A (p.Asp746Glu) | |
4 | g.47936482T>A | CA356823001 | CNGA1,NIPAL1 | c.2000A>T (p.Asp667Val) c.2012A>T (p.Asp671Val) c.2219A>T (p.Asp740Val) n.478+21778T>A n.563+21778T>A c.2237A>T (p.Asp746Val) | |
4 | g.47936482T>C | CA356823002 | CNGA1,NIPAL1 | c.2000A>G (p.Asp667Gly) c.2012A>G (p.Asp671Gly) c.2219A>G (p.Asp740Gly) n.478+21778T>C n.563+21778T>C c.2237A>G (p.Asp746Gly) | |
4 | g.47936482T>G | CA356823003 | CNGA1,NIPAL1 | c.2000A>C (p.Asp667Ala) c.2012A>C (p.Asp671Ala) c.2219A>C (p.Asp740Ala) n.478+21778T>G n.563+21778T>G c.2237A>C (p.Asp746Ala) | |
4 | g.47936483C>A | CA356823004 | CNGA1,NIPAL1 | c.1999G>T (p.Asp667Tyr) c.2011G>T (p.Asp671Tyr) c.2218G>T (p.Asp740Tyr) n.478+21779C>A n.563+21779C>A c.2236G>T (p.Asp746Tyr) | |
4 | g.47936483C>G | CA356823005 | CNGA1,NIPAL1 | c.1999G>C (p.Asp667His) c.2011G>C (p.Asp671His) c.2218G>C (p.Asp740His) n.478+21779C>G n.563+21779C>G c.2236G>C (p.Asp746His) | |
4 | g.47936483C>T | CA356823006 | CNGA1,NIPAL1 | c.1999G>A (p.Asp667Asn) c.2011G>A (p.Asp671Asn) c.2218G>A (p.Asp740Asn) n.478+21779C>T n.563+21779C>T c.2236G>A (p.Asp746Asn) | gnomAD v4 |
4 | g.47936484A>C | CA356823007 | CNGA1,NIPAL1 | c.1998T>G (p.Ile666Met) c.2010T>G (p.Ile670Met) c.2217T>G (p.Ile739Met) n.478+21780A>C n.563+21780A>C c.2235T>G (p.Ile745Met) | |
4 | g.47936484A>G | CA439248035 | CNGA1,NIPAL1 | c.1998T>C (p.Ile666=) c.2010T>C (p.Ile670=) c.2217T>C (p.Ile739=) n.478+21780A>G n.563+21780A>G c.2235T>C (p.Ile745=) | |
4 | g.47936484A>T | CA439248036 | CNGA1,NIPAL1 | c.1998T>A (p.Ile666=) c.2010T>A (p.Ile670=) c.2217T>A (p.Ile739=) n.478+21780A>T n.563+21780A>T c.2235T>A (p.Ile745=) | |
4 | g.47936485A= | CA1455551594 | CNGA1,NIPAL1 | c.1997T= (p.Ile666=) c.2009T= (p.Ile670=) c.2216T= (p.Ile739=) n.478+21781A= n.563+21781A= c.2234T= (p.Ile745=) | |
4 | g.47936485A>C | CA356823008 | CNGA1,NIPAL1 | c.1997T>G (p.Ile666Ser) c.2009T>G (p.Ile670Ser) c.2216T>G (p.Ile739Ser) n.478+21781A>C n.563+21781A>C c.2234T>G (p.Ile745Ser) | |
4 | g.47936485A>G | CA356823009 | CNGA1,NIPAL1 | c.1997T>C (p.Ile666Thr) c.2009T>C (p.Ile670Thr) c.2216T>C (p.Ile739Thr) n.478+21781A>G n.563+21781A>G c.2234T>C (p.Ile745Thr) | dbSNP |
4 | g.47936485A>T | CA356823010 | CNGA1,NIPAL1 | c.1997T>A (p.Ile666Asn) c.2009T>A (p.Ile670Asn) c.2216T>A (p.Ile739Asn) n.478+21781A>T n.563+21781A>T c.2234T>A (p.Ile745Asn) | |
4 | g.47936486T>A | CA356823011 | CNGA1,NIPAL1 | c.1996A>T (p.Ile666Phe) c.2008A>T (p.Ile670Phe) c.2215A>T (p.Ile739Phe) n.478+21782T>A n.563+21782T>A c.2233A>T (p.Ile745Phe) | |
4 | g.47936486T>C | CA356823012 | CNGA1,NIPAL1 | c.1996A>G (p.Ile666Val) c.2008A>G (p.Ile670Val) c.2215A>G (p.Ile739Val) n.478+21782T>C n.563+21782T>C c.2233A>G (p.Ile745Val) | gnomAD v4 |
4 | g.47936486T>G | CA356823013 | CNGA1,NIPAL1 | c.1996A>C (p.Ile666Leu) c.2008A>C (p.Ile670Leu) c.2215A>C (p.Ile739Leu) n.478+21782T>G n.563+21782T>G c.2233A>C (p.Ile745Leu) | |
4 | g.47936487A>C | CA439248038 | CNGA1,NIPAL1 | c.1995T>G (p.Leu665=) c.2007T>G (p.Leu669=) c.2214T>G (p.Leu738=) n.478+21783A>C n.563+21783A>C c.2232T>G (p.Leu744=) | |
4 | g.47936487A>G | CA439248039 | CNGA1,NIPAL1 | c.1995T>C (p.Leu665=) c.2007T>C (p.Leu669=) c.2214T>C (p.Leu738=) n.478+21783A>G n.563+21783A>G c.2232T>C (p.Leu744=) | |
4 | g.47936487A>T | CA439248040 | CNGA1,NIPAL1 | c.1995T>A (p.Leu665=) c.2007T>A (p.Leu669=) c.2214T>A (p.Leu738=) n.478+21783A>T n.563+21783A>T c.2232T>A (p.Leu744=) | |
4 | g.47936488A>C | CA356823014 | CNGA1,NIPAL1 | c.1994T>G (p.Leu665Arg) c.2006T>G (p.Leu669Arg) c.2213T>G (p.Leu738Arg) n.478+21784A>C n.563+21784A>C c.2231T>G (p.Leu744Arg) | |
4 | g.47936488A>G | CA356823016 | CNGA1,NIPAL1 | c.1994T>C (p.Leu665Pro) c.2006T>C (p.Leu669Pro) c.2213T>C (p.Leu738Pro) n.478+21784A>G n.563+21784A>G c.2231T>C (p.Leu744Pro) | ClinVar |
4 | g.47936488A>T | CA356823015 | CNGA1,NIPAL1 | c.1994T>A (p.Leu665His) c.2006T>A (p.Leu669His) c.2213T>A (p.Leu738His) n.478+21784A>T n.563+21784A>T c.2231T>A (p.Leu744His) | |
4 | g.47936489G>A | CA356823017 | CNGA1,NIPAL1 | c.1993C>T (p.Leu665Phe) c.2005C>T (p.Leu669Phe) c.2212C>T (p.Leu738Phe) n.478+21785G>A n.563+21785G>A c.2230C>T (p.Leu744Phe) | |
4 | g.47936489G>C | CA356823018 | CNGA1,NIPAL1 | c.1993C>G (p.Leu665Val) c.2005C>G (p.Leu669Val) c.2212C>G (p.Leu738Val) n.478+21785G>C n.563+21785G>C c.2230C>G (p.Leu744Val) | |
4 | g.47936489G>T | CA356823019 | CNGA1,NIPAL1 | c.1993C>A (p.Leu665Ile) c.2005C>A (p.Leu669Ile) c.2212C>A (p.Leu738Ile) n.478+21785G>T n.563+21785G>T c.2230C>A (p.Leu744Ile) | |
4 | g.47936490C>A | CA439248044 | CNGA1,NIPAL1 | c.1992G>T (p.Pro664=) c.2004G>T (p.Pro668=) c.2211G>T (p.Pro737=) n.478+21786C>A n.563+21786C>A c.2229G>T (p.Pro743=) | |
4 | g.47936490C= | CA1455551595 | CNGA1,NIPAL1 | c.1992G= (p.Pro664=) c.2004G= (p.Pro668=) c.2211G= (p.Pro737=) n.478+21786C= n.563+21786C= c.2229G= (p.Pro743=) | |
4 | g.47936490C>G | CA439248043 | CNGA1,NIPAL1 | c.1992G>C (p.Pro664=) c.2004G>C (p.Pro668=) c.2211G>C (p.Pro737=) n.478+21786C>G n.563+21786C>G c.2229G>C (p.Pro743=) | |
4 | g.47936490C>T | CA2910976 | CNGA1,NIPAL1 | c.1992G>A (p.Pro664=) c.2004G>A (p.Pro668=) c.2211G>A (p.Pro737=) n.478+21786C>T n.563+21786C>T c.2229G>A (p.Pro743=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936491G>A | CA2910977 | CNGA1,NIPAL1 | c.1991C>T (p.Pro664Leu) c.2003C>T (p.Pro668Leu) c.2210C>T (p.Pro737Leu) n.478+21787G>A n.563+21787G>A c.2228C>T (p.Pro743Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936491G>C | CA356823020 | CNGA1,NIPAL1 | c.1991C>G (p.Pro664Arg) c.2003C>G (p.Pro668Arg) c.2210C>G (p.Pro737Arg) n.478+21787G>C n.563+21787G>C c.2228C>G (p.Pro743Arg) | |
4 | g.47936491G= | CA1455551596 | CNGA1,NIPAL1 | c.1991C= (p.Pro664=) c.2003C= (p.Pro668=) c.2210C= (p.Pro737=) n.478+21787G= n.563+21787G= c.2228C= (p.Pro743=) | |
4 | g.47936491G>T | CA2910978 | CNGA1,NIPAL1 | c.1991C>A (p.Pro664Gln) c.2003C>A (p.Pro668Gln) c.2210C>A (p.Pro737Gln) n.478+21787G>T n.563+21787G>T c.2228C>A (p.Pro743Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936492G>A | CA356823021 | CNGA1,NIPAL1 | c.1990C>T (p.Pro664Ser) c.2002C>T (p.Pro668Ser) c.2209C>T (p.Pro737Ser) n.478+21788G>A n.563+21788G>A c.2227C>T (p.Pro743Ser) | |
4 | g.47936492G>C | CA356823022 | CNGA1,NIPAL1 | c.1990C>G (p.Pro664Ala) c.2002C>G (p.Pro668Ala) c.2209C>G (p.Pro737Ala) n.478+21788G>C n.563+21788G>C c.2227C>G (p.Pro743Ala) | |
4 | g.47936492G= | CA1455551597 | CNGA1,NIPAL1 | c.1990C= (p.Pro664=) c.2002C= (p.Pro668=) c.2209C= (p.Pro737=) n.478+21788G= n.563+21788G= c.2227C= (p.Pro743=) | |
4 | g.47936492G>T | CA2910979 | CNGA1,NIPAL1 | c.1990C>A (p.Pro664Thr) c.2002C>A (p.Pro668Thr) c.2209C>A (p.Pro737Thr) n.478+21788G>T n.563+21788G>T c.2227C>A (p.Pro743Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936493T>A | CA356823023 | CNGA1,NIPAL1 | c.1989A>T (p.Lys663Asn) c.2001A>T (p.Lys667Asn) c.2208A>T (p.Lys736Asn) n.478+21789T>A n.563+21789T>A c.2226A>T (p.Lys742Asn) | |
4 | g.47936493T>C | CA439248049 | CNGA1,NIPAL1 | c.1989A>G (p.Lys663=) c.2001A>G (p.Lys667=) c.2208A>G (p.Lys736=) n.478+21789T>C n.563+21789T>C c.2226A>G (p.Lys742=) | |
4 | g.47936493T>G | CA356823024 | CNGA1,NIPAL1 | c.1989A>C (p.Lys663Asn) c.2001A>C (p.Lys667Asn) c.2208A>C (p.Lys736Asn) n.478+21789T>G n.563+21789T>G c.2226A>C (p.Lys742Asn) | |
4 | g.47936494T>A | CA356823026 | CNGA1,NIPAL1 | c.1988A>T (p.Lys663Ile) c.2000A>T (p.Lys667Ile) c.2207A>T (p.Lys736Ile) n.478+21790T>A n.563+21790T>A c.2225A>T (p.Lys742Ile) | |
4 | g.47936494T>C | CA356823027 | CNGA1,NIPAL1 | c.1988A>G (p.Lys663Arg) c.2000A>G (p.Lys667Arg) c.2207A>G (p.Lys736Arg) n.478+21790T>C n.563+21790T>C c.2225A>G (p.Lys742Arg) | |
4 | g.47936494T>G | CA356823025 | CNGA1,NIPAL1 | c.1988A>C (p.Lys663Thr) c.2000A>C (p.Lys667Thr) c.2207A>C (p.Lys736Thr) n.478+21790T>G n.563+21790T>G c.2225A>C (p.Lys742Thr) | |
4 | g.47936495T>A | CA356823028 | CNGA1,NIPAL1 | c.1987A>T (p.Lys663Ter) c.1999A>T (p.Lys667Ter) c.2206A>T (p.Lys736Ter) n.478+21791T>A n.563+21791T>A c.2224A>T (p.Lys742Ter) | |
4 | g.47936495T>C | CA356823030 | CNGA1,NIPAL1 | c.1987A>G (p.Lys663Glu) c.1999A>G (p.Lys667Glu) c.2206A>G (p.Lys736Glu) n.478+21791T>C n.563+21791T>C c.2224A>G (p.Lys742Glu) | |
4 | g.47936495T>G | CA356823029 | CNGA1,NIPAL1 | c.1987A>C (p.Lys663Gln) c.1999A>C (p.Lys667Gln) c.2206A>C (p.Lys736Gln) n.478+21791T>G n.563+21791T>G c.2224A>C (p.Lys742Gln) | gnomAD v4 |
4 | g.47936496C>A | CA439248056 | CNGA1,NIPAL1 | c.1986G>T (p.Leu662=) c.1998G>T (p.Leu666=) c.2205G>T (p.Leu735=) n.478+21792C>A n.563+21792C>A c.2223G>T (p.Leu741=) | dbSNP |
4 | g.47936496C= | CA1455551598 | CNGA1,NIPAL1 | c.1986G= (p.Leu662=) c.1998G= (p.Leu666=) c.2205G= (p.Leu735=) n.478+21792C= n.563+21792C= c.2223G= (p.Leu741=) | |
4 | g.47936496C>G | CA439248057 | CNGA1,NIPAL1 | c.1986G>C (p.Leu662=) c.1998G>C (p.Leu666=) c.2205G>C (p.Leu735=) n.478+21792C>G n.563+21792C>G c.2223G>C (p.Leu741=) | |
4 | g.47936496C>T | CA439248058 | CNGA1,NIPAL1 | c.1986G>A (p.Leu662=) c.1998G>A (p.Leu666=) c.2205G>A (p.Leu735=) n.478+21792C>T n.563+21792C>T c.2223G>A (p.Leu741=) | |
4 | g.47936497A= | CA1455551599 | CNGA1,NIPAL1 | c.1985T= (p.Leu662=) c.1997T= (p.Leu666=) c.2204T= (p.Leu735=) n.478+21793A= n.563+21793A= c.2222T= (p.Leu741=) | |
4 | g.47936497A>C | CA356823031 | CNGA1,NIPAL1 | c.1985T>G (p.Leu662Arg) c.1997T>G (p.Leu666Arg) c.2204T>G (p.Leu735Arg) n.478+21793A>C n.563+21793A>C c.2222T>G (p.Leu741Arg) | |
4 | g.47936497A>G | CA2910980 | CNGA1,NIPAL1 | c.1985T>C (p.Leu662Pro) c.1997T>C (p.Leu666Pro) c.2204T>C (p.Leu735Pro) n.478+21793A>G n.563+21793A>G c.2222T>C (p.Leu741Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936497A>T | CA356823032 | CNGA1,NIPAL1 | c.1985T>A (p.Leu662Gln) c.1997T>A (p.Leu666Gln) c.2204T>A (p.Leu735Gln) n.478+21793A>T n.563+21793A>T c.2222T>A (p.Leu741Gln) | |
4 | g.47936498G>A | CA439248065 | CNGA1,NIPAL1 | c.1984C>T (p.Leu662=) c.1996C>T (p.Leu666=) c.2203C>T (p.Leu735=) n.478+21794G>A n.563+21794G>A c.2221C>T (p.Leu741=) | ClinVar dbSNP |
4 | g.47936498G>C | CA356823033 | CNGA1,NIPAL1 | c.1984C>G (p.Leu662Val) c.1996C>G (p.Leu666Val) c.2203C>G (p.Leu735Val) n.478+21794G>C n.563+21794G>C c.2221C>G (p.Leu741Val) | |
4 | g.47936498G>T | CA356823034 | CNGA1,NIPAL1 | c.1984C>A (p.Leu662Met) c.1996C>A (p.Leu666Met) c.2203C>A (p.Leu735Met) n.478+21794G>T n.563+21794G>T c.2221C>A (p.Leu741Met) | |
4 | g.47936498_47936499delinsGA | CA1455551600 | CNGA1,NIPAL1 | c.1983_1984delinsTC (p.Phe661=) c.1995_1996delinsTC (p.Phe665=) c.2202_2203delinsTC (p.Phe734=) n.478+21794_478+21795delinsGA n.563+21794_563+21795delinsGA c.2220_2221delinsTC (p.Phe740=) | |
4 | g.47936499A>C | CA356823035 | CNGA1,NIPAL1 | c.1983T>G (p.Phe661Leu) c.1995T>G (p.Phe665Leu) c.2202T>G (p.Phe734Leu) n.478+21795A>C n.563+21795A>C c.2220T>G (p.Phe740Leu) | |
4 | g.47936499A>G | CA439248066 | CNGA1,NIPAL1 | c.1983T>C (p.Phe661=) c.1995T>C (p.Phe665=) c.2202T>C (p.Phe734=) n.478+21795A>G n.563+21795A>G c.2220T>C (p.Phe740=) | |
4 | g.47936499A>T | CA356823036 | CNGA1,NIPAL1 | c.1983T>A (p.Phe661Leu) c.1995T>A (p.Phe665Leu) c.2202T>A (p.Phe734Leu) n.478+21795A>T n.563+21795A>T c.2220T>A (p.Phe740Leu) | |
4 | g.47936501del | CA551650454 | CNGA1,NIPAL1 | c.1983del (p.Leu662Ter) c.1995del (p.Leu666Ter) c.2202del (p.Leu735Ter) n.478+21797del n.563+21797del c.2220del (p.Leu741Ter) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936500A= | CA1455551601 | CNGA1,NIPAL1 | c.1982T= (p.Phe661=) c.1994T= (p.Phe665=) c.2201T= (p.Phe734=) n.478+21796A= n.563+21796A= c.2219T= (p.Phe740=) | |
4 | g.47936500A>C | CA356823037 | CNGA1,NIPAL1 | c.1982T>G (p.Phe661Cys) c.1994T>G (p.Phe665Cys) c.2201T>G (p.Phe734Cys) n.478+21796A>C n.563+21796A>C c.2219T>G (p.Phe740Cys) | |
4 | g.47936500A>G | CA2910981 | CNGA1,NIPAL1 | c.1982T>C (p.Phe661Ser) c.1994T>C (p.Phe665Ser) c.2201T>C (p.Phe734Ser) n.478+21796A>G n.563+21796A>G c.2219T>C (p.Phe740Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936500A>T | CA356823038 | CNGA1,NIPAL1 | c.1982T>A (p.Phe661Tyr) c.1994T>A (p.Phe665Tyr) c.2201T>A (p.Phe734Tyr) n.478+21796A>T n.563+21796A>T c.2219T>A (p.Phe740Tyr) | |
4 | g.47936501A= | CA1455551602 | CNGA1,NIPAL1 | c.1981T= (p.Phe661=) c.1993T= (p.Phe665=) c.2200T= (p.Phe734=) n.478+21797A= n.563+21797A= c.2218T= (p.Phe740=) | |
4 | g.47936501A>C | CA356823039 | CNGA1,NIPAL1 | c.1981T>G (p.Phe661Val) c.1993T>G (p.Phe665Val) c.2200T>G (p.Phe734Val) n.478+21797A>C n.563+21797A>C c.2218T>G (p.Phe740Val) | |
4 | g.47936501A>G | CA356823040 | CNGA1,NIPAL1 | c.1981T>C (p.Phe661Leu) c.1993T>C (p.Phe665Leu) c.2200T>C (p.Phe734Leu) n.478+21797A>G n.563+21797A>G c.2218T>C (p.Phe740Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936501A>T | CA356823041 | CNGA1,NIPAL1 | c.1981T>A (p.Phe661Ile) c.1993T>A (p.Phe665Ile) c.2200T>A (p.Phe734Ile) n.478+21797A>T n.563+21797A>T c.2218T>A (p.Phe740Ile) | |
4 | g.47936502T>A | CA356823042 | CNGA1,NIPAL1 | c.1980A>T (p.Lys660Asn) c.1992A>T (p.Lys664Asn) c.2199A>T (p.Lys733Asn) n.478+21798T>A n.563+21798T>A c.2217A>T (p.Lys739Asn) | |
4 | g.47936502T>C | CA439248073 | CNGA1,NIPAL1 | c.1980A>G (p.Lys660=) c.1992A>G (p.Lys664=) c.2199A>G (p.Lys733=) n.478+21798T>C n.563+21798T>C c.2217A>G (p.Lys739=) | dbSNP |
4 | g.47936502T>G | CA356823043 | CNGA1,NIPAL1 | c.1980A>C (p.Lys660Asn) c.1992A>C (p.Lys664Asn) c.2199A>C (p.Lys733Asn) n.478+21798T>G n.563+21798T>G c.2217A>C (p.Lys739Asn) | |
4 | g.47936503T>A | CA356823044 | CNGA1,NIPAL1 | c.1979A>T (p.Lys660Ile) c.1991A>T (p.Lys664Ile) c.2198A>T (p.Lys733Ile) n.478+21799T>A n.563+21799T>A c.2216A>T (p.Lys739Ile) | |
4 | g.47936503T>C | CA356823045 | CNGA1,NIPAL1 | c.1979A>G (p.Lys660Arg) c.1991A>G (p.Lys664Arg) c.2198A>G (p.Lys733Arg) n.478+21799T>C n.563+21799T>C c.2216A>G (p.Lys739Arg) | gnomAD v4 |
4 | g.47936503T>G | CA356823046 | CNGA1,NIPAL1 | c.1979A>C (p.Lys660Thr) c.1991A>C (p.Lys664Thr) c.2198A>C (p.Lys733Thr) n.478+21799T>G n.563+21799T>G c.2216A>C (p.Lys739Thr) | dbSNP COSMIC |
4 | g.47936503T= | CA1455551603 | CNGA1,NIPAL1 | c.1979A= (p.Lys660=) c.1991A= (p.Lys664=) c.2198A= (p.Lys733=) n.478+21799T= n.563+21799T= c.2216A= (p.Lys739=) | |
4 | g.47936504T>A | CA356823047 | CNGA1,NIPAL1 | c.1978A>T (p.Lys660Ter) c.1990A>T (p.Lys664Ter) c.2197A>T (p.Lys733Ter) n.478+21800T>A n.563+21800T>A c.2215A>T (p.Lys739Ter) | |
4 | g.47936504T>C | CA356823048 | CNGA1,NIPAL1 | c.1978A>G (p.Lys660Glu) c.1990A>G (p.Lys664Glu) c.2197A>G (p.Lys733Glu) n.478+21800T>C n.563+21800T>C c.2215A>G (p.Lys739Glu) | |
4 | g.47936504T>G | CA356823049 | CNGA1,NIPAL1 | c.1978A>C (p.Lys660Gln) c.1990A>C (p.Lys664Gln) c.2197A>C (p.Lys733Gln) n.478+21800T>G n.563+21800T>G c.2215A>C (p.Lys739Gln) | |
4 | g.47936505C>A | CA356823050 | CNGA1,NIPAL1 | c.1977G>T (p.Glu659Asp) c.1989G>T (p.Glu663Asp) c.2196G>T (p.Glu732Asp) n.478+21801C>A n.563+21801C>A c.2214G>T (p.Glu738Asp) | |
4 | g.47936505C>G | CA356823051 | CNGA1,NIPAL1 | c.1977G>C (p.Glu659Asp) c.1989G>C (p.Glu663Asp) c.2196G>C (p.Glu732Asp) n.478+21801C>G n.563+21801C>G c.2214G>C (p.Glu738Asp) | |
4 | g.47936505C>T | CA439248080 | CNGA1,NIPAL1 | c.1977G>A (p.Glu659=) c.1989G>A (p.Glu663=) c.2196G>A (p.Glu732=) n.478+21801C>T n.563+21801C>T c.2214G>A (p.Glu738=) | |
4 | g.47936506T>A | CA356823052 | CNGA1,NIPAL1 | c.1976A>T (p.Glu659Val) c.1988A>T (p.Glu663Val) c.2195A>T (p.Glu732Val) n.478+21802T>A n.563+21802T>A c.2213A>T (p.Glu738Val) | |
4 | g.47936506T>C | CA356823053 | CNGA1,NIPAL1 | c.1976A>G (p.Glu659Gly) c.1988A>G (p.Glu663Gly) c.2195A>G (p.Glu732Gly) n.478+21802T>C n.563+21802T>C c.2213A>G (p.Glu738Gly) | |
4 | g.47936506T>G | CA356823054 | CNGA1,NIPAL1 | c.1976A>C (p.Glu659Ala) c.1988A>C (p.Glu663Ala) c.2195A>C (p.Glu732Ala) n.478+21802T>G n.563+21802T>G c.2213A>C (p.Glu738Ala) | |
4 | g.47936507C>A | CA356823057 | CNGA1,NIPAL1 | c.1975G>T (p.Glu659Ter) c.1987G>T (p.Glu663Ter) c.2194G>T (p.Glu732Ter) n.478+21803C>A n.563+21803C>A c.2212G>T (p.Glu738Ter) | |
4 | g.47936507C>G | CA356823056 | CNGA1,NIPAL1 | c.1975G>C (p.Glu659Gln) c.1987G>C (p.Glu663Gln) c.2194G>C (p.Glu732Gln) n.478+21803C>G n.563+21803C>G c.2212G>C (p.Glu738Gln) | |
4 | g.47936507C>T | CA356823055 | CNGA1,NIPAL1 | c.1975G>A (p.Glu659Lys) c.1987G>A (p.Glu663Lys) c.2194G>A (p.Glu732Lys) n.478+21803C>T n.563+21803C>T c.2212G>A (p.Glu738Lys) | |
4 | g.47936508A= | CA1455551604 | CNGA1,NIPAL1 | c.1974T= (p.Val658=) c.1986T= (p.Val662=) c.2193T= (p.Val731=) n.478+21804A= n.563+21804A= c.2211T= (p.Val737=) | |
4 | g.47936508A>C | CA439248088 | CNGA1,NIPAL1 | c.1974T>G (p.Val658=) c.1986T>G (p.Val662=) c.2193T>G (p.Val731=) n.478+21804A>C n.563+21804A>C c.2211T>G (p.Val737=) | gnomAD v4 |
4 | g.47936508A>G | CA439248089 | CNGA1,NIPAL1 | c.1974T>C (p.Val658=) c.1986T>C (p.Val662=) c.2193T>C (p.Val731=) n.478+21804A>G n.563+21804A>G c.2211T>C (p.Val737=) | |
4 | g.47936508A>T | CA2910982 | CNGA1,NIPAL1 | c.1974T>A (p.Val658=) c.1986T>A (p.Val662=) c.2193T>A (p.Val731=) n.478+21804A>T n.563+21804A>T c.2211T>A (p.Val737=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936509A= | CA1455551605 | CNGA1,NIPAL1 | c.1973T= (p.Val658=) c.1985T= (p.Val662=) c.2192T= (p.Val731=) n.478+21805A= n.563+21805A= c.2210T= (p.Val737=) | |
4 | g.47936509A>C | CA356823058 | CNGA1,NIPAL1 | c.1973T>G (p.Val658Gly) c.1985T>G (p.Val662Gly) c.2192T>G (p.Val731Gly) n.478+21805A>C n.563+21805A>C c.2210T>G (p.Val737Gly) | |
4 | g.47936509A>G | CA2910983 | CNGA1,NIPAL1 | c.1973T>C (p.Val658Ala) c.1985T>C (p.Val662Ala) c.2192T>C (p.Val731Ala) n.478+21805A>G n.563+21805A>G c.2210T>C (p.Val737Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936509A>T | CA356823059 | CNGA1,NIPAL1 | c.1973T>A (p.Val658Asp) c.1985T>A (p.Val662Asp) c.2192T>A (p.Val731Asp) n.478+21805A>T n.563+21805A>T c.2210T>A (p.Val737Asp) | |
4 | g.47936510C>A | CA356823060 | CNGA1,NIPAL1 | c.1972G>T (p.Val658Phe) c.1984G>T (p.Val662Phe) c.2191G>T (p.Val731Phe) n.478+21806C>A n.563+21806C>A c.2209G>T (p.Val737Phe) | gnomAD v4 |
4 | g.47936510C>G | CA356823061 | CNGA1,NIPAL1 | c.1972G>C (p.Val658Leu) c.1984G>C (p.Val662Leu) c.2191G>C (p.Val731Leu) n.478+21806C>G n.563+21806C>G c.2209G>C (p.Val737Leu) | |
4 | g.47936510C>T | CA356823062 | CNGA1,NIPAL1 | c.1972G>A (p.Val658Ile) c.1984G>A (p.Val662Ile) c.2191G>A (p.Val731Ile) n.478+21806C>T n.563+21806C>T c.2209G>A (p.Val737Ile) | gnomAD v4 |
4 | g.47936511C>A | CA356823063 | CNGA1,NIPAL1 | c.1971G>T (p.Lys657Asn) c.1983G>T (p.Lys661Asn) c.2190G>T (p.Lys730Asn) n.478+21807C>A n.563+21807C>A c.2208G>T (p.Lys736Asn) | |
4 | g.47936511C>G | CA356823064 | CNGA1,NIPAL1 | c.1971G>C (p.Lys657Asn) c.1983G>C (p.Lys661Asn) c.2190G>C (p.Lys730Asn) n.478+21807C>G n.563+21807C>G c.2208G>C (p.Lys736Asn) | |
4 | g.47936511C>T | CA439248097 | CNGA1,NIPAL1 | c.1971G>A (p.Lys657=) c.1983G>A (p.Lys661=) c.2190G>A (p.Lys730=) n.478+21807C>T n.563+21807C>T c.2208G>A (p.Lys736=) | |
4 | g.47936512T>A | CA356823065 | CNGA1,NIPAL1 | c.1970A>T (p.Lys657Met) c.1982A>T (p.Lys661Met) c.2189A>T (p.Lys730Met) n.478+21808T>A n.563+21808T>A c.2207A>T (p.Lys736Met) | |
4 | g.47936512T>C | CA356823066 | CNGA1,NIPAL1 | c.1970A>G (p.Lys657Arg) c.1982A>G (p.Lys661Arg) c.2189A>G (p.Lys730Arg) n.478+21808T>C n.563+21808T>C c.2207A>G (p.Lys736Arg) | |
4 | g.47936512T>G | CA356823067 | CNGA1,NIPAL1 | c.1970A>C (p.Lys657Thr) c.1982A>C (p.Lys661Thr) c.2189A>C (p.Lys730Thr) n.478+21808T>G n.563+21808T>G c.2207A>C (p.Lys736Thr) | |
4 | g.47936513T>A | CA356823069 | CNGA1,NIPAL1 | c.1969A>T (p.Lys657Ter) c.1981A>T (p.Lys661Ter) c.2188A>T (p.Lys730Ter) n.478+21809T>A n.563+21809T>A c.2206A>T (p.Lys736Ter) | |
4 | g.47936513T>C | CA96687830 | CNGA1,NIPAL1 | c.1969A>G (p.Lys657Glu) c.1981A>G (p.Lys661Glu) c.2188A>G (p.Lys730Glu) n.478+21809T>C n.563+21809T>C c.2206A>G (p.Lys736Glu) | ClinVar dbSNP gnomAD v4 COSMIC |
4 | g.47936513T>G | CA356823068 | CNGA1,NIPAL1 | c.1969A>C (p.Lys657Gln) c.1981A>C (p.Lys661Gln) c.2188A>C (p.Lys730Gln) n.478+21809T>G n.563+21809T>G c.2206A>C (p.Lys736Gln) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936513T= | CA1455551606 | CNGA1,NIPAL1 | c.1969A= (p.Lys657=) c.1981A= (p.Lys661=) c.2188A= (p.Lys730=) n.478+21809T= n.563+21809T= c.2206A= (p.Lys736=) | |
4 | g.47936514G>A | CA439248103 | CNGA1,NIPAL1 | c.1968C>T (p.Thr656=) c.1980C>T (p.Thr660=) c.2187C>T (p.Thr729=) n.478+21810G>A n.563+21810G>A c.2205C>T (p.Thr735=) | dbSNP gnomAD v4 COSMIC |
4 | g.47936514G>C | CA439248104 | CNGA1,NIPAL1 | c.1968C>G (p.Thr656=) c.1980C>G (p.Thr660=) c.2187C>G (p.Thr729=) n.478+21810G>C n.563+21810G>C c.2205C>G (p.Thr735=) | |
4 | g.47936514G= | CA1455551607 | CNGA1,NIPAL1 | c.1968C= (p.Thr656=) c.1980C= (p.Thr660=) c.2187C= (p.Thr729=) n.478+21810G= n.563+21810G= c.2205C= (p.Thr735=) | |
4 | g.47936514G>T | CA439248107 | CNGA1,NIPAL1 | c.1968C>A (p.Thr656=) c.1980C>A (p.Thr660=) c.2187C>A (p.Thr729=) n.478+21810G>T n.563+21810G>T c.2205C>A (p.Thr735=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936514_47936515insTTA | CA2578081537 | CNGA1,NIPAL1 | c.1967_1968insTAA (p.Thr656_Lys657insAsn) c.1979_1980insTAA (p.Thr660_Lys661insAsn) c.2186_2187insTAA (p.Thr729_Lys730insAsn) n.478+21810_478+21811insTTA n.563+21810_563+21811insTTA c.2204_2205insTAA (p.Thr735_Lys736insAsn) | |
4 | g.47936515G>A | CA2910984 | CNGA1,NIPAL1 | c.1967C>T (p.Thr656Ile) c.1979C>T (p.Thr660Ile) c.2186C>T (p.Thr729Ile) n.478+21811G>A n.563+21811G>A c.2204C>T (p.Thr735Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936515G>C | CA356823070 | CNGA1,NIPAL1 | c.1967C>G (p.Thr656Ser) c.1979C>G (p.Thr660Ser) c.2186C>G (p.Thr729Ser) n.478+21811G>C n.563+21811G>C c.2204C>G (p.Thr735Ser) | |
4 | g.47936515G= | CA1455551608 | CNGA1,NIPAL1 | c.1967C= (p.Thr656=) c.1979C= (p.Thr660=) c.2186C= (p.Thr729=) n.478+21811G= n.563+21811G= c.2204C= (p.Thr735=) | |
4 | g.47936515G>T | CA356823071 | CNGA1,NIPAL1 | c.1967C>A (p.Thr656Asn) c.1979C>A (p.Thr660Asn) c.2186C>A (p.Thr729Asn) n.478+21811G>T n.563+21811G>T c.2204C>A (p.Thr735Asn) | gnomAD v4 COSMIC |
4 | g.47936516T>A | CA356823072 | CNGA1,NIPAL1 | c.1966A>T (p.Thr656Ser) c.1978A>T (p.Thr660Ser) c.2185A>T (p.Thr729Ser) n.478+21812T>A n.563+21812T>A c.2203A>T (p.Thr735Ser) | |
4 | g.47936516T>C | CA356823073 | CNGA1,NIPAL1 | c.1966A>G (p.Thr656Ala) c.1978A>G (p.Thr660Ala) c.2185A>G (p.Thr729Ala) n.478+21812T>C n.563+21812T>C c.2203A>G (p.Thr735Ala) | |
4 | g.47936516T>G | CA356823074 | CNGA1,NIPAL1 | c.1966A>C (p.Thr656Pro) c.1978A>C (p.Thr660Pro) c.2185A>C (p.Thr729Pro) n.478+21812T>G n.563+21812T>G c.2203A>C (p.Thr735Pro) | COSMIC COSMIC |
4 | g.47936517T>A | CA356823075 | CNGA1,NIPAL1 | c.1965A>T (p.Leu655Phe) c.1977A>T (p.Leu659Phe) c.2184A>T (p.Leu728Phe) n.478+21813T>A n.563+21813T>A c.2202A>T (p.Leu734Phe) | |
4 | g.47936517T>C | CA439248112 | CNGA1,NIPAL1 | c.1965A>G (p.Leu655=) c.1977A>G (p.Leu659=) c.2184A>G (p.Leu728=) n.478+21813T>C n.563+21813T>C c.2202A>G (p.Leu734=) | |
4 | g.47936517T>G | CA356823076 | CNGA1,NIPAL1 | c.1965A>C (p.Leu655Phe) c.1977A>C (p.Leu659Phe) c.2184A>C (p.Leu728Phe) n.478+21813T>G n.563+21813T>G c.2202A>C (p.Leu734Phe) | |
4 | g.47936518A>C | CA356823077 | CNGA1,NIPAL1 | c.1964T>G (p.Leu655Ter) c.1976T>G (p.Leu659Ter) c.2183T>G (p.Leu728Ter) n.478+21814A>C n.563+21814A>C c.2201T>G (p.Leu734Ter) | |
4 | g.47936518A>G | CA356823078 | CNGA1,NIPAL1 | c.1964T>C (p.Leu655Ser) c.1976T>C (p.Leu659Ser) c.2183T>C (p.Leu728Ser) n.478+21814A>G n.563+21814A>G c.2201T>C (p.Leu734Ser) | |
4 | g.47936518A>T | CA356823079 | CNGA1,NIPAL1 | c.1964T>A (p.Leu655Ter) c.1976T>A (p.Leu659Ter) c.2183T>A (p.Leu728Ter) n.478+21814A>T n.563+21814A>T c.2201T>A (p.Leu734Ter) | |
4 | g.47936519A>C | CA356823080 | CNGA1,NIPAL1 | c.1963T>G (p.Leu655Val) c.1975T>G (p.Leu659Val) c.2182T>G (p.Leu728Val) n.478+21815A>C n.563+21815A>C c.2200T>G (p.Leu734Val) | |
4 | g.47936519A>G | CA439248115 | CNGA1,NIPAL1 | c.1963T>C (p.Leu655=) c.1975T>C (p.Leu659=) c.2182T>C (p.Leu728=) n.478+21815A>G n.563+21815A>G c.2200T>C (p.Leu734=) | |
4 | g.47936519A>T | CA356823081 | CNGA1,NIPAL1 | c.1963T>A (p.Leu655Ile) c.1975T>A (p.Leu659Ile) c.2182T>A (p.Leu728Ile) n.478+21815A>T n.563+21815A>T c.2200T>A (p.Leu734Ile) | |
4 | g.47936520T>A | CA356823083 | CNGA1,NIPAL1 | c.1962A>T (p.Arg654Ser) c.1974A>T (p.Arg658Ser) c.2181A>T (p.Arg727Ser) n.478+21816T>A n.563+21816T>A c.2199A>T (p.Arg733Ser) | |
4 | g.47936520T>C | CA439248116 | CNGA1,NIPAL1 | c.1962A>G (p.Arg654=) c.1974A>G (p.Arg658=) c.2181A>G (p.Arg727=) n.478+21816T>C n.563+21816T>C c.2199A>G (p.Arg733=) | gnomAD v4 |
4 | g.47936520T>G | CA356823082 | CNGA1,NIPAL1 | c.1962A>C (p.Arg654Ser) c.1974A>C (p.Arg658Ser) c.2181A>C (p.Arg727Ser) n.478+21816T>G n.563+21816T>G c.2199A>C (p.Arg733Ser) | |
4 | g.47936521C>A | CA356823084 | CNGA1,NIPAL1 | c.1961G>T (p.Arg654Ile) c.1973G>T (p.Arg658Ile) c.2180G>T (p.Arg727Ile) n.478+21817C>A n.563+21817C>A c.2198G>T (p.Arg733Ile) | COSMIC |
4 | g.47936521C= | CA1455551609 | CNGA1,NIPAL1 | c.1961G= (p.Arg654=) c.1973G= (p.Arg658=) c.2180G= (p.Arg727=) n.478+21817C= n.563+21817C= c.2198G= (p.Arg733=) | |
4 | g.47936521C>G | CA2910985 | CNGA1,NIPAL1 | c.1961G>C (p.Arg654Thr) c.1973G>C (p.Arg658Thr) c.2180G>C (p.Arg727Thr) n.478+21817C>G n.563+21817C>G c.2198G>C (p.Arg733Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936521C>T | CA356823085 | CNGA1,NIPAL1 | c.1961G>A (p.Arg654Lys) c.1973G>A (p.Arg658Lys) c.2180G>A (p.Arg727Lys) n.478+21817C>T n.563+21817C>T c.2198G>A (p.Arg733Lys) | |
4 | g.47936522T>A | CA356823086 | CNGA1,NIPAL1 | c.1960A>T (p.Arg654Ter) c.1972A>T (p.Arg658Ter) c.2179A>T (p.Arg727Ter) n.478+21818T>A n.563+21818T>A c.2197A>T (p.Arg733Ter) | |
4 | g.47936522T>C | CA356823087 | CNGA1,NIPAL1 | c.1960A>G (p.Arg654Gly) c.1972A>G (p.Arg658Gly) c.2179A>G (p.Arg727Gly) n.478+21818T>C n.563+21818T>C c.2197A>G (p.Arg733Gly) | gnomAD v4 |
4 | g.47936522T>G | CA439248119 | CNGA1,NIPAL1 | c.1960A>C (p.Arg654=) c.1972A>C (p.Arg658=) c.2179A>C (p.Arg727=) n.478+21818T>G n.563+21818T>G c.2197A>C (p.Arg733=) | |
4 | g.47936524del | CA2573320676 | CNGA1,NIPAL1 | c.1960del (p.Arg654AspfsTer2) c.1972del (p.Arg658AspfsTer2) c.2179del (p.Arg727AspfsTer2) n.478+21820del n.563+21820del c.2197del (p.Arg733AspfsTer2) | ClinVar |
4 | g.47936523T>A | CA356823088 | CNGA1,NIPAL1 | c.1959A>T (p.Gln653His) c.1971A>T (p.Gln657His) c.2178A>T (p.Gln726His) n.478+21819T>A n.563+21819T>A c.2196A>T (p.Gln732His) | |
4 | g.47936523T>C | CA439248120 | CNGA1,NIPAL1 | c.1959A>G (p.Gln653=) c.1971A>G (p.Gln657=) c.2178A>G (p.Gln726=) n.478+21819T>C n.563+21819T>C c.2196A>G (p.Gln732=) | gnomAD v4 |
4 | g.47936523T>G | CA356823089 | CNGA1,NIPAL1 | c.1959A>C (p.Gln653His) c.1971A>C (p.Gln657His) c.2178A>C (p.Gln726His) n.478+21819T>G n.563+21819T>G c.2196A>C (p.Gln732His) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936523T= | CA1455551610 | CNGA1,NIPAL1 | c.1959A= (p.Gln653=) c.1971A= (p.Gln657=) c.2178A= (p.Gln726=) n.478+21819T= n.563+21819T= c.2196A= (p.Gln732=) | |
4 | g.47936524T>A | CA356823090 | CNGA1,NIPAL1 | c.1958A>T (p.Gln653Leu) c.1970A>T (p.Gln657Leu) c.2177A>T (p.Gln726Leu) n.478+21820T>A n.563+21820T>A c.2195A>T (p.Gln732Leu) | |
4 | g.47936524T>C | CA356823091 | CNGA1,NIPAL1 | c.1958A>G (p.Gln653Arg) c.1970A>G (p.Gln657Arg) c.2177A>G (p.Gln726Arg) n.478+21820T>C n.563+21820T>C c.2195A>G (p.Gln732Arg) | |
4 | g.47936524T>G | CA356823092 | CNGA1,NIPAL1 | c.1958A>C (p.Gln653Pro) c.1970A>C (p.Gln657Pro) c.2177A>C (p.Gln726Pro) n.478+21820T>G n.563+21820T>G c.2195A>C (p.Gln732Pro) | |
4 | g.47936525G>A | CA2910986 | CNGA1,NIPAL1 | c.1957C>T (p.Gln653Ter) c.1969C>T (p.Gln657Ter) c.2176C>T (p.Gln726Ter) n.478+21821G>A n.563+21821G>A c.2194C>T (p.Gln732Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936525G>C | CA356823093 | CNGA1,NIPAL1 | c.1957C>G (p.Gln653Glu) c.1969C>G (p.Gln657Glu) c.2176C>G (p.Gln726Glu) n.478+21821G>C n.563+21821G>C c.2194C>G (p.Gln732Glu) | |
4 | g.47936525G= | CA1455551611 | CNGA1,NIPAL1 | c.1957C= (p.Gln653=) c.1969C= (p.Gln657=) c.2176C= (p.Gln726=) n.478+21821G= n.563+21821G= c.2194C= (p.Gln732=) | |
4 | g.47936525G>T | CA356823094 | CNGA1,NIPAL1 | c.1957C>A (p.Gln653Lys) c.1969C>A (p.Gln657Lys) c.2176C>A (p.Gln726Lys) n.478+21821G>T n.563+21821G>T c.2194C>A (p.Gln732Lys) | |
4 | g.47936526T>A | CA356823095 | CNGA1,NIPAL1 | c.1956A>T (p.Lys652Asn) c.1968A>T (p.Lys656Asn) c.2175A>T (p.Lys725Asn) n.478+21822T>A n.563+21822T>A c.2193A>T (p.Lys731Asn) | |
4 | g.47936526T>C | CA439248127 | CNGA1,NIPAL1 | c.1956A>G (p.Lys652=) c.1968A>G (p.Lys656=) c.2175A>G (p.Lys725=) n.478+21822T>C n.563+21822T>C c.2193A>G (p.Lys731=) | |
4 | g.47936526T>G | CA356823096 | CNGA1,NIPAL1 | c.1956A>C (p.Lys652Asn) c.1968A>C (p.Lys656Asn) c.2175A>C (p.Lys725Asn) n.478+21822T>G n.563+21822T>G c.2193A>C (p.Lys731Asn) | |
4 | g.47936527T>A | CA356823097 | CNGA1,NIPAL1 | c.1955A>T (p.Lys652Ile) c.1967A>T (p.Lys656Ile) c.2174A>T (p.Lys725Ile) n.478+21823T>A n.563+21823T>A c.2192A>T (p.Lys731Ile) | dbSNP |
4 | g.47936527T>C | CA356823098 | CNGA1,NIPAL1 | c.1955A>G (p.Lys652Arg) c.1967A>G (p.Lys656Arg) c.2174A>G (p.Lys725Arg) n.478+21823T>C n.563+21823T>C c.2192A>G (p.Lys731Arg) | |
4 | g.47936527T>G | CA356823099 | CNGA1,NIPAL1 | c.1955A>C (p.Lys652Thr) c.1967A>C (p.Lys656Thr) c.2174A>C (p.Lys725Thr) n.478+21823T>G n.563+21823T>G c.2192A>C (p.Lys731Thr) | |
4 | g.47936527T= | CA1455551612 | CNGA1,NIPAL1 | c.1955A= (p.Lys652=) c.1967A= (p.Lys656=) c.2174A= (p.Lys725=) n.478+21823T= n.563+21823T= c.2192A= (p.Lys731=) | |
4 | g.47936528T>A | CA356823102 | CNGA1,NIPAL1 | c.1954A>T (p.Lys652Ter) c.1966A>T (p.Lys656Ter) c.2173A>T (p.Lys725Ter) n.478+21824T>A n.563+21824T>A c.2191A>T (p.Lys731Ter) | |
4 | g.47936528T>C | CA356823100 | CNGA1,NIPAL1 | c.1954A>G (p.Lys652Glu) c.1966A>G (p.Lys656Glu) c.2173A>G (p.Lys725Glu) n.478+21824T>C n.563+21824T>C c.2191A>G (p.Lys731Glu) | |
4 | g.47936528T>G | CA356823101 | CNGA1,NIPAL1 | c.1954A>C (p.Lys652Gln) c.1966A>C (p.Lys656Gln) c.2173A>C (p.Lys725Gln) n.478+21824T>G n.563+21824T>G c.2191A>C (p.Lys731Gln) | |
4 | g.47936529C>A | CA439248133 | CNGA1,NIPAL1 | c.1953G>T (p.Leu651=) c.1965G>T (p.Leu655=) c.2172G>T (p.Leu724=) n.478+21825C>A n.563+21825C>A c.2190G>T (p.Leu730=) | |
4 | g.47936529C>G | CA439248135 | CNGA1,NIPAL1 | c.1953G>C (p.Leu651=) c.1965G>C (p.Leu655=) c.2172G>C (p.Leu724=) n.478+21825C>G n.563+21825C>G c.2190G>C (p.Leu730=) | |
4 | g.47936529C>T | CA439248137 | CNGA1,NIPAL1 | c.1953G>A (p.Leu651=) c.1965G>A (p.Leu655=) c.2172G>A (p.Leu724=) n.478+21825C>T n.563+21825C>T c.2190G>A (p.Leu730=) | gnomAD v4 |
4 | g.47936530A>C | CA356823103 | CNGA1,NIPAL1 | c.1952T>G (p.Leu651Arg) c.1964T>G (p.Leu655Arg) c.2171T>G (p.Leu724Arg) n.478+21826A>C n.563+21826A>C c.2189T>G (p.Leu730Arg) | |
4 | g.47936530A>G | CA356823104 | CNGA1,NIPAL1 | c.1952T>C (p.Leu651Pro) c.1964T>C (p.Leu655Pro) c.2171T>C (p.Leu724Pro) n.478+21826A>G n.563+21826A>G c.2189T>C (p.Leu730Pro) | ClinVar dbSNP gnomAD v4 |
4 | g.47936530A>T | CA356823105 | CNGA1,NIPAL1 | c.1952T>A (p.Leu651Gln) c.1964T>A (p.Leu655Gln) c.2171T>A (p.Leu724Gln) n.478+21826A>T n.563+21826A>T c.2189T>A (p.Leu730Gln) | gnomAD v4 |
4 | g.47936531G>A | CA439248141 | CNGA1,NIPAL1 | c.1951C>T (p.Leu651=) c.1963C>T (p.Leu655=) c.2170C>T (p.Leu724=) n.478+21827G>A n.563+21827G>A c.2188C>T (p.Leu730=) | |
4 | g.47936531G>C | CA356823106 | CNGA1,NIPAL1 | c.1951C>G (p.Leu651Val) c.1963C>G (p.Leu655Val) c.2170C>G (p.Leu724Val) n.478+21827G>C n.563+21827G>C c.2188C>G (p.Leu730Val) | |
4 | g.47936531G>T | CA356823107 | CNGA1,NIPAL1 | c.1951C>A (p.Leu651Met) c.1963C>A (p.Leu655Met) c.2170C>A (p.Leu724Met) n.478+21827G>T n.563+21827G>T c.2188C>A (p.Leu730Met) | |
4 | g.47936532T>A | CA356823108 | CNGA1,NIPAL1 | c.1950A>T (p.Lys650Asn) c.1962A>T (p.Lys654Asn) c.2169A>T (p.Lys723Asn) n.478+21828T>A n.563+21828T>A c.2187A>T (p.Lys729Asn) | |
4 | g.47936532T>C | CA439248145 | CNGA1,NIPAL1 | c.1950A>G (p.Lys650=) c.1962A>G (p.Lys654=) c.2169A>G (p.Lys723=) n.478+21828T>C n.563+21828T>C c.2187A>G (p.Lys729=) | |
4 | g.47936532T>G | CA356823109 | CNGA1,NIPAL1 | c.1950A>C (p.Lys650Asn) c.1962A>C (p.Lys654Asn) c.2169A>C (p.Lys723Asn) n.478+21828T>G n.563+21828T>G c.2187A>C (p.Lys729Asn) | |
4 | g.47936533T>A | CA356823110 | CNGA1,NIPAL1 | c.1949A>T (p.Lys650Ile) c.1961A>T (p.Lys654Ile) c.2168A>T (p.Lys723Ile) n.478+21829T>A n.563+21829T>A c.2186A>T (p.Lys729Ile) | |
4 | g.47936533T>C | CA356823111 | CNGA1,NIPAL1 | c.1949A>G (p.Lys650Arg) c.1961A>G (p.Lys654Arg) c.2168A>G (p.Lys723Arg) n.478+21829T>C n.563+21829T>C c.2186A>G (p.Lys729Arg) | |
4 | g.47936533T>G | CA356823112 | CNGA1,NIPAL1 | c.1949A>C (p.Lys650Thr) c.1961A>C (p.Lys654Thr) c.2168A>C (p.Lys723Thr) n.478+21829T>G n.563+21829T>G c.2186A>C (p.Lys729Thr) | |
4 | g.47936534T>A | CA356823114 | CNGA1,NIPAL1 | c.1948A>T (p.Lys650Ter) c.1960A>T (p.Lys654Ter) c.2167A>T (p.Lys723Ter) n.478+21830T>A n.563+21830T>A c.2185A>T (p.Lys729Ter) | |
4 | g.47936534T>C | CA356823115 | CNGA1,NIPAL1 | c.1948A>G (p.Lys650Glu) c.1960A>G (p.Lys654Glu) c.2167A>G (p.Lys723Glu) n.478+21830T>C n.563+21830T>C c.2185A>G (p.Lys729Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936534T>G | CA356823113 | CNGA1,NIPAL1 | c.1948A>C (p.Lys650Gln) c.1960A>C (p.Lys654Gln) c.2167A>C (p.Lys723Gln) n.478+21830T>G n.563+21830T>G c.2185A>C (p.Lys729Gln) | |
4 | g.47936534T= | CA1455551613 | CNGA1,NIPAL1 | c.1948A= (p.Lys650=) c.1960A= (p.Lys654=) c.2167A= (p.Lys723=) n.478+21830T= n.563+21830T= c.2185A= (p.Lys729=) | |
4 | g.47936535C>A | CA356823116 | CNGA1,NIPAL1 | c.1947G>T (p.Gln649His) c.1959G>T (p.Gln653His) c.2166G>T (p.Gln722His) n.478+21831C>A n.563+21831C>A c.2184G>T (p.Gln728His) | |
4 | g.47936535C>G | CA356823117 | CNGA1,NIPAL1 | c.1947G>C (p.Gln649His) c.1959G>C (p.Gln653His) c.2166G>C (p.Gln722His) n.478+21831C>G n.563+21831C>G c.2184G>C (p.Gln728His) | |
4 | g.47936535C>T | CA439248152 | CNGA1,NIPAL1 | c.1947G>A (p.Gln649=) c.1959G>A (p.Gln653=) c.2166G>A (p.Gln722=) n.478+21831C>T n.563+21831C>T c.2184G>A (p.Gln728=) | |
4 | g.47936536T>A | CA356823118 | CNGA1,NIPAL1 | c.1946A>T (p.Gln649Leu) c.1958A>T (p.Gln653Leu) c.2165A>T (p.Gln722Leu) n.478+21832T>A n.563+21832T>A c.2183A>T (p.Gln728Leu) | |
4 | g.47936536T>C | CA356823119 | CNGA1,NIPAL1 | c.1946A>G (p.Gln649Arg) c.1958A>G (p.Gln653Arg) c.2165A>G (p.Gln722Arg) n.478+21832T>C n.563+21832T>C c.2183A>G (p.Gln728Arg) | |
4 | g.47936536T>G | CA96687867 | CNGA1,NIPAL1 | c.1946A>C (p.Gln649Pro) c.1958A>C (p.Gln653Pro) c.2165A>C (p.Gln722Pro) n.478+21832T>G n.563+21832T>G c.2183A>C (p.Gln728Pro) | dbSNP |
4 | g.47936536T= | CA1455551614 | CNGA1,NIPAL1 | c.1946A= (p.Gln649=) c.1958A= (p.Gln653=) c.2165A= (p.Gln722=) n.478+21832T= n.563+21832T= c.2183A= (p.Gln728=) | |
4 | g.47936537G>A | CA356823122 | CNGA1,NIPAL1 | c.1945C>T (p.Gln649Ter) c.1957C>T (p.Gln653Ter) c.2164C>T (p.Gln722Ter) n.478+21833G>A n.563+21833G>A c.2182C>T (p.Gln728Ter) | gnomAD v4 |
4 | g.47936537G>C | CA356823120 | CNGA1,NIPAL1 | c.1945C>G (p.Gln649Glu) c.1957C>G (p.Gln653Glu) c.2164C>G (p.Gln722Glu) n.478+21833G>C n.563+21833G>C c.2182C>G (p.Gln728Glu) | |
4 | g.47936537G>T | CA356823121 | CNGA1,NIPAL1 | c.1945C>A (p.Gln649Lys) c.1957C>A (p.Gln653Lys) c.2164C>A (p.Gln722Lys) n.478+21833G>T n.563+21833G>T c.2182C>A (p.Gln728Lys) | |
4 | g.47936538C>A | CA356823123 | CNGA1,NIPAL1 | c.1944G>T (p.Gln648His) c.1956G>T (p.Gln652His) c.2163G>T (p.Gln721His) n.478+21834C>A n.563+21834C>A c.2181G>T (p.Gln727His) | |
4 | g.47936538C>G | CA356823124 | CNGA1,NIPAL1 | c.1944G>C (p.Gln648His) c.1956G>C (p.Gln652His) c.2163G>C (p.Gln721His) n.478+21834C>G n.563+21834C>G c.2181G>C (p.Gln727His) | |
4 | g.47936538C>T | CA439248157 | CNGA1,NIPAL1 | c.1944G>A (p.Gln648=) c.1956G>A (p.Gln652=) c.2163G>A (p.Gln721=) n.478+21834C>T n.563+21834C>T c.2181G>A (p.Gln727=) | |
4 | g.47936539T>A | CA356823125 | CNGA1,NIPAL1 | c.1943A>T (p.Gln648Leu) c.1955A>T (p.Gln652Leu) c.2162A>T (p.Gln721Leu) n.478+21835T>A n.563+21835T>A c.2180A>T (p.Gln727Leu) | |
4 | g.47936539T>C | CA356823126 | CNGA1,NIPAL1 | c.1943A>G (p.Gln648Arg) c.1955A>G (p.Gln652Arg) c.2162A>G (p.Gln721Arg) n.478+21835T>C n.563+21835T>C c.2180A>G (p.Gln727Arg) | |
4 | g.47936539T>G | CA356823127 | CNGA1,NIPAL1 | c.1943A>C (p.Gln648Pro) c.1955A>C (p.Gln652Pro) c.2162A>C (p.Gln721Pro) n.478+21835T>G n.563+21835T>G c.2180A>C (p.Gln727Pro) | |
4 | g.47936540G>A | CA356823128 | CNGA1,NIPAL1 | c.1942C>T (p.Gln648Ter) c.1954C>T (p.Gln652Ter) c.2161C>T (p.Gln721Ter) n.478+21836G>A n.563+21836G>A c.2179C>T (p.Gln727Ter) | dbSNP |
4 | g.47936540G>C | CA356823130 | CNGA1,NIPAL1 | c.1942C>G (p.Gln648Glu) c.1954C>G (p.Gln652Glu) c.2161C>G (p.Gln721Glu) n.478+21836G>C n.563+21836G>C c.2179C>G (p.Gln727Glu) | |
4 | g.47936540G= | CA1455551615 | CNGA1,NIPAL1 | c.1942C= (p.Gln648=) c.1954C= (p.Gln652=) c.2161C= (p.Gln721=) n.478+21836G= n.563+21836G= c.2179C= (p.Gln727=) | |
4 | g.47936540G>T | CA356823129 | CNGA1,NIPAL1 | c.1942C>A (p.Gln648Lys) c.1954C>A (p.Gln652Lys) c.2161C>A (p.Gln721Lys) n.478+21836G>T n.563+21836G>T c.2179C>A (p.Gln727Lys) | |
4 | g.47936541C>A | CA356823131 | CNGA1,NIPAL1 | c.1941G>T (p.Met647Ile) c.1953G>T (p.Met651Ile) c.2160G>T (p.Met720Ile) n.478+21837C>A n.563+21837C>A c.2178G>T (p.Met726Ile) | |
4 | g.47936541C>G | CA356823132 | CNGA1,NIPAL1 | c.1941G>C (p.Met647Ile) c.1953G>C (p.Met651Ile) c.2160G>C (p.Met720Ile) n.478+21837C>G n.563+21837C>G c.2178G>C (p.Met726Ile) | |
4 | g.47936541C>T | CA356823133 | CNGA1,NIPAL1 | c.1941G>A (p.Met647Ile) c.1953G>A (p.Met651Ile) c.2160G>A (p.Met720Ile) n.478+21837C>T n.563+21837C>T c.2178G>A (p.Met726Ile) | ClinVar gnomAD v4 COSMIC |
4 | g.47936542A= | CA1455551616 | CNGA1,NIPAL1 | c.1940T= (p.Met647=) c.1952T= (p.Met651=) c.2159T= (p.Met720=) n.478+21838A= n.563+21838A= c.2177T= (p.Met726=) | |
4 | g.47936542A>C | CA356823134 | CNGA1,NIPAL1 | c.1940T>G (p.Met647Arg) c.1952T>G (p.Met651Arg) c.2159T>G (p.Met720Arg) n.478+21838A>C n.563+21838A>C c.2177T>G (p.Met726Arg) | |
4 | g.47936542A>G | CA2910987 | CNGA1,NIPAL1 | c.1940T>C (p.Met647Thr) c.1952T>C (p.Met651Thr) c.2159T>C (p.Met720Thr) n.478+21838A>G n.563+21838A>G c.2177T>C (p.Met726Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936542A>T | CA356823135 | CNGA1,NIPAL1 | c.1940T>A (p.Met647Lys) c.1952T>A (p.Met651Lys) c.2159T>A (p.Met720Lys) n.478+21838A>T n.563+21838A>T c.2177T>A (p.Met726Lys) |