| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.33800469C>A | CA389414110 | NPAS3 | c.2162C>A (p.Ala721Asp) c.2171C>A (p.Ala724Asp) c.2062C>A c.793+2888C>A c.2066C>A (p.Ala689Asp) c.2123C>A (p.Ala708Asp) c.2072C>A (p.Ala691Asp) c.2177C>A (p.Ala726Asp) c.2084C>A (p.Ala695Asp) c.2183C>A (p.Ala728Asp) c.2213C>A (p.Ala738Asp) c.2204C>A (p.Ala735Asp) c.2174C>A (p.Ala725Asp) c.2117C>A (p.Ala706Asp) c.2063C>A (p.Ala688Asp) c.1856C>A (p.Ala619Asp) c.2270C>A (p.Ala757Asp) c.2264C>A (p.Ala755Asp) c.2261C>A (p.Ala754Asp) c.2321C>A (p.Ala774Asp) c.2312C>A (p.Ala771Asp) c.2231C>A (p.Ala744Asp) c.2180C>A (p.Ala727Asp) | |
| 14 | g.33800469C>G | CA389414111 | NPAS3 | c.2162C>G (p.Ala721Gly) c.2171C>G (p.Ala724Gly) c.2062C>G c.793+2888C>G c.2066C>G (p.Ala689Gly) c.2123C>G (p.Ala708Gly) c.2072C>G (p.Ala691Gly) c.2177C>G (p.Ala726Gly) c.2084C>G (p.Ala695Gly) c.2183C>G (p.Ala728Gly) c.2213C>G (p.Ala738Gly) c.2204C>G (p.Ala735Gly) c.2174C>G (p.Ala725Gly) c.2117C>G (p.Ala706Gly) c.2063C>G (p.Ala688Gly) c.1856C>G (p.Ala619Gly) c.2270C>G (p.Ala757Gly) c.2264C>G (p.Ala755Gly) c.2261C>G (p.Ala754Gly) c.2321C>G (p.Ala774Gly) c.2312C>G (p.Ala771Gly) c.2231C>G (p.Ala744Gly) c.2180C>G (p.Ala727Gly) | |
| 14 | g.33800469C>T | CA389414112 | NPAS3 | c.2162C>T (p.Ala721Val) c.2171C>T (p.Ala724Val) c.2062C>T c.793+2888C>T c.2066C>T (p.Ala689Val) c.2123C>T (p.Ala708Val) c.2072C>T (p.Ala691Val) c.2177C>T (p.Ala726Val) c.2084C>T (p.Ala695Val) c.2183C>T (p.Ala728Val) c.2213C>T (p.Ala738Val) c.2204C>T (p.Ala735Val) c.2174C>T (p.Ala725Val) c.2117C>T (p.Ala706Val) c.2063C>T (p.Ala688Val) c.1856C>T (p.Ala619Val) c.2270C>T (p.Ala757Val) c.2264C>T (p.Ala755Val) c.2261C>T (p.Ala754Val) c.2321C>T (p.Ala774Val) c.2312C>T (p.Ala771Val) c.2231C>T (p.Ala744Val) c.2180C>T (p.Ala727Val) | gnomAD v4 |
| 14 | g.33800470C>A | CA486093205 | NPAS3 | c.2163C>A (p.Ala721=) c.2172C>A (p.Ala724=) c.2063C>A c.793+2889C>A c.2067C>A (p.Ala689=) c.2124C>A (p.Ala708=) c.2073C>A (p.Ala691=) c.2178C>A (p.Ala726=) c.2085C>A (p.Ala695=) c.2184C>A (p.Ala728=) c.2214C>A (p.Ala738=) c.2205C>A (p.Ala735=) c.2175C>A (p.Ala725=) c.2118C>A (p.Ala706=) c.2064C>A (p.Ala688=) c.1857C>A (p.Ala619=) c.2271C>A (p.Ala757=) c.2265C>A (p.Ala755=) c.2262C>A (p.Ala754=) c.2322C>A (p.Ala774=) c.2313C>A (p.Ala771=) c.2232C>A (p.Ala744=) c.2181C>A (p.Ala727=) | dbSNP |
| 14 | g.33800470C= | CA2128327567 | NPAS3 | c.2163C= (p.Ala721=) c.2172C= (p.Ala724=) c.2063C= c.793+2889C= c.2067C= (p.Ala689=) c.2124C= (p.Ala708=) c.2073C= (p.Ala691=) c.2178C= (p.Ala726=) c.2085C= (p.Ala695=) c.2184C= (p.Ala728=) c.2214C= (p.Ala738=) c.2205C= (p.Ala735=) c.2175C= (p.Ala725=) c.2118C= (p.Ala706=) c.2064C= (p.Ala688=) c.1857C= (p.Ala619=) c.2271C= (p.Ala757=) c.2265C= (p.Ala755=) c.2262C= (p.Ala754=) c.2322C= (p.Ala774=) c.2313C= (p.Ala771=) c.2232C= (p.Ala744=) c.2181C= (p.Ala727=) | |
| 14 | g.33800470C>G | CA486093206 | NPAS3 | c.2163C>G (p.Ala721=) c.2172C>G (p.Ala724=) c.2063C>G c.793+2889C>G c.2067C>G (p.Ala689=) c.2124C>G (p.Ala708=) c.2073C>G (p.Ala691=) c.2178C>G (p.Ala726=) c.2085C>G (p.Ala695=) c.2184C>G (p.Ala728=) c.2214C>G (p.Ala738=) c.2205C>G (p.Ala735=) c.2175C>G (p.Ala725=) c.2118C>G (p.Ala706=) c.2064C>G (p.Ala688=) c.1857C>G (p.Ala619=) c.2271C>G (p.Ala757=) c.2265C>G (p.Ala755=) c.2262C>G (p.Ala754=) c.2322C>G (p.Ala774=) c.2313C>G (p.Ala771=) c.2232C>G (p.Ala744=) c.2181C>G (p.Ala727=) | |
| 14 | g.33800470C>T | CA486093207 | NPAS3 | c.2163C>T (p.Ala721=) c.2172C>T (p.Ala724=) c.2063C>T c.793+2889C>T c.2067C>T (p.Ala689=) c.2124C>T (p.Ala708=) c.2073C>T (p.Ala691=) c.2178C>T (p.Ala726=) c.2085C>T (p.Ala695=) c.2184C>T (p.Ala728=) c.2214C>T (p.Ala738=) c.2205C>T (p.Ala735=) c.2175C>T (p.Ala725=) c.2118C>T (p.Ala706=) c.2064C>T (p.Ala688=) c.1857C>T (p.Ala619=) c.2271C>T (p.Ala757=) c.2265C>T (p.Ala755=) c.2262C>T (p.Ala754=) c.2322C>T (p.Ala774=) c.2313C>T (p.Ala771=) c.2232C>T (p.Ala744=) c.2181C>T (p.Ala727=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800471G>A | CA389414113 | NPAS3 | c.2164G>A (p.Asp722Asn) c.2173G>A (p.Asp725Asn) c.2064G>A c.793+2890G>A c.2068G>A (p.Asp690Asn) c.2125G>A (p.Asp709Asn) c.2074G>A (p.Asp692Asn) c.2179G>A (p.Asp727Asn) c.2086G>A (p.Asp696Asn) c.2185G>A (p.Asp729Asn) c.2215G>A (p.Asp739Asn) c.2206G>A (p.Asp736Asn) c.2176G>A (p.Asp726Asn) c.2119G>A (p.Asp707Asn) c.2065G>A (p.Asp689Asn) c.1858G>A (p.Asp620Asn) c.2272G>A (p.Asp758Asn) c.2266G>A (p.Asp756Asn) c.2263G>A (p.Asp755Asn) c.2323G>A (p.Asp775Asn) c.2314G>A (p.Asp772Asn) c.2233G>A (p.Asp745Asn) c.2182G>A (p.Asp728Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.33800471G>C | CA389414114 | NPAS3 | c.2164G>C (p.Asp722His) c.2173G>C (p.Asp725His) c.2064G>C c.793+2890G>C c.2068G>C (p.Asp690His) c.2125G>C (p.Asp709His) c.2074G>C (p.Asp692His) c.2179G>C (p.Asp727His) c.2086G>C (p.Asp696His) c.2185G>C (p.Asp729His) c.2215G>C (p.Asp739His) c.2206G>C (p.Asp736His) c.2176G>C (p.Asp726His) c.2119G>C (p.Asp707His) c.2065G>C (p.Asp689His) c.1858G>C (p.Asp620His) c.2272G>C (p.Asp758His) c.2266G>C (p.Asp756His) c.2263G>C (p.Asp755His) c.2323G>C (p.Asp775His) c.2314G>C (p.Asp772His) c.2233G>C (p.Asp745His) c.2182G>C (p.Asp728His) | |
| 14 | g.33800471G= | CA2128327571 | NPAS3 | c.2164G= (p.Asp722=) c.2173G= (p.Asp725=) c.2064G= c.793+2890G= c.2068G= (p.Asp690=) c.2125G= (p.Asp709=) c.2074G= (p.Asp692=) c.2179G= (p.Asp727=) c.2086G= (p.Asp696=) c.2185G= (p.Asp729=) c.2215G= (p.Asp739=) c.2206G= (p.Asp736=) c.2176G= (p.Asp726=) c.2119G= (p.Asp707=) c.2065G= (p.Asp689=) c.1858G= (p.Asp620=) c.2272G= (p.Asp758=) c.2266G= (p.Asp756=) c.2263G= (p.Asp755=) c.2323G= (p.Asp775=) c.2314G= (p.Asp772=) c.2233G= (p.Asp745=) c.2182G= (p.Asp728=) | |
| 14 | g.33800471G>T | CA389414115 | NPAS3 | c.2164G>T (p.Asp722Tyr) c.2173G>T (p.Asp725Tyr) c.2064G>T c.793+2890G>T c.2068G>T (p.Asp690Tyr) c.2125G>T (p.Asp709Tyr) c.2074G>T (p.Asp692Tyr) c.2179G>T (p.Asp727Tyr) c.2086G>T (p.Asp696Tyr) c.2185G>T (p.Asp729Tyr) c.2215G>T (p.Asp739Tyr) c.2206G>T (p.Asp736Tyr) c.2176G>T (p.Asp726Tyr) c.2119G>T (p.Asp707Tyr) c.2065G>T (p.Asp689Tyr) c.1858G>T (p.Asp620Tyr) c.2272G>T (p.Asp758Tyr) c.2266G>T (p.Asp756Tyr) c.2263G>T (p.Asp755Tyr) c.2323G>T (p.Asp775Tyr) c.2314G>T (p.Asp772Tyr) c.2233G>T (p.Asp745Tyr) c.2182G>T (p.Asp728Tyr) | |
| 14 | g.33800472A= | CA2128327573 | NPAS3 | c.2165A= (p.Asp722=) c.2174A= (p.Asp725=) c.2065A= c.793+2891A= c.2069A= (p.Asp690=) c.2126A= (p.Asp709=) c.2075A= (p.Asp692=) c.2180A= (p.Asp727=) c.2087A= (p.Asp696=) c.2186A= (p.Asp729=) c.2216A= (p.Asp739=) c.2207A= (p.Asp736=) c.2177A= (p.Asp726=) c.2120A= (p.Asp707=) c.2066A= (p.Asp689=) c.1859A= (p.Asp620=) c.2273A= (p.Asp758=) c.2267A= (p.Asp756=) c.2264A= (p.Asp755=) c.2324A= (p.Asp775=) c.2315A= (p.Asp772=) c.2234A= (p.Asp745=) c.2183A= (p.Asp728=) | |
| 14 | g.33800472A>C | CA389414116 | NPAS3 | c.2165A>C (p.Asp722Ala) c.2174A>C (p.Asp725Ala) c.2065A>C c.793+2891A>C c.2069A>C (p.Asp690Ala) c.2126A>C (p.Asp709Ala) c.2075A>C (p.Asp692Ala) c.2180A>C (p.Asp727Ala) c.2087A>C (p.Asp696Ala) c.2186A>C (p.Asp729Ala) c.2216A>C (p.Asp739Ala) c.2207A>C (p.Asp736Ala) c.2177A>C (p.Asp726Ala) c.2120A>C (p.Asp707Ala) c.2066A>C (p.Asp689Ala) c.1859A>C (p.Asp620Ala) c.2273A>C (p.Asp758Ala) c.2267A>C (p.Asp756Ala) c.2264A>C (p.Asp755Ala) c.2324A>C (p.Asp775Ala) c.2315A>C (p.Asp772Ala) c.2234A>C (p.Asp745Ala) c.2183A>C (p.Asp728Ala) | |
| 14 | g.33800472A>G | CA7150962 | NPAS3 | c.2165A>G (p.Asp722Gly) c.2174A>G (p.Asp725Gly) c.2065A>G c.793+2891A>G c.2069A>G (p.Asp690Gly) c.2126A>G (p.Asp709Gly) c.2075A>G (p.Asp692Gly) c.2180A>G (p.Asp727Gly) c.2087A>G (p.Asp696Gly) c.2186A>G (p.Asp729Gly) c.2216A>G (p.Asp739Gly) c.2207A>G (p.Asp736Gly) c.2177A>G (p.Asp726Gly) c.2120A>G (p.Asp707Gly) c.2066A>G (p.Asp689Gly) c.1859A>G (p.Asp620Gly) c.2273A>G (p.Asp758Gly) c.2267A>G (p.Asp756Gly) c.2264A>G (p.Asp755Gly) c.2324A>G (p.Asp775Gly) c.2315A>G (p.Asp772Gly) c.2234A>G (p.Asp745Gly) c.2183A>G (p.Asp728Gly) | dbSNP ExAC gnomAD v4 |
| 14 | g.33800472A>T | CA389414117 | NPAS3 | c.2165A>T (p.Asp722Val) c.2174A>T (p.Asp725Val) c.2065A>T c.793+2891A>T c.2069A>T (p.Asp690Val) c.2126A>T (p.Asp709Val) c.2075A>T (p.Asp692Val) c.2180A>T (p.Asp727Val) c.2087A>T (p.Asp696Val) c.2186A>T (p.Asp729Val) c.2216A>T (p.Asp739Val) c.2207A>T (p.Asp736Val) c.2177A>T (p.Asp726Val) c.2120A>T (p.Asp707Val) c.2066A>T (p.Asp689Val) c.1859A>T (p.Asp620Val) c.2273A>T (p.Asp758Val) c.2267A>T (p.Asp756Val) c.2264A>T (p.Asp755Val) c.2324A>T (p.Asp775Val) c.2315A>T (p.Asp772Val) c.2234A>T (p.Asp745Val) c.2183A>T (p.Asp728Val) | COSMIC COSMIC COSMIC |
| 14 | g.33800473C>A | CA389414118 | NPAS3 | c.2166C>A (p.Asp722Glu) c.2175C>A (p.Asp725Glu) c.2066C>A c.793+2892C>A c.2070C>A (p.Asp690Glu) c.2127C>A (p.Asp709Glu) c.2076C>A (p.Asp692Glu) c.2181C>A (p.Asp727Glu) c.2088C>A (p.Asp696Glu) c.2187C>A (p.Asp729Glu) c.2217C>A (p.Asp739Glu) c.2208C>A (p.Asp736Glu) c.2178C>A (p.Asp726Glu) c.2121C>A (p.Asp707Glu) c.2067C>A (p.Asp689Glu) c.1860C>A (p.Asp620Glu) c.2274C>A (p.Asp758Glu) c.2268C>A (p.Asp756Glu) c.2265C>A (p.Asp755Glu) c.2325C>A (p.Asp775Glu) c.2316C>A (p.Asp772Glu) c.2235C>A (p.Asp745Glu) c.2184C>A (p.Asp728Glu) | gnomAD v4 |
| 14 | g.33800473C= | CA2128327576 | NPAS3 | c.2166C= (p.Asp722=) c.2175C= (p.Asp725=) c.2066C= c.793+2892C= c.2070C= (p.Asp690=) c.2127C= (p.Asp709=) c.2076C= (p.Asp692=) c.2181C= (p.Asp727=) c.2088C= (p.Asp696=) c.2187C= (p.Asp729=) c.2217C= (p.Asp739=) c.2208C= (p.Asp736=) c.2178C= (p.Asp726=) c.2121C= (p.Asp707=) c.2067C= (p.Asp689=) c.1860C= (p.Asp620=) c.2274C= (p.Asp758=) c.2268C= (p.Asp756=) c.2265C= (p.Asp755=) c.2325C= (p.Asp775=) c.2316C= (p.Asp772=) c.2235C= (p.Asp745=) c.2184C= (p.Asp728=) | |
| 14 | g.33800473C>G | CA389414119 | NPAS3 | c.2166C>G (p.Asp722Glu) c.2175C>G (p.Asp725Glu) c.2066C>G c.793+2892C>G c.2070C>G (p.Asp690Glu) c.2127C>G (p.Asp709Glu) c.2076C>G (p.Asp692Glu) c.2181C>G (p.Asp727Glu) c.2088C>G (p.Asp696Glu) c.2187C>G (p.Asp729Glu) c.2217C>G (p.Asp739Glu) c.2208C>G (p.Asp736Glu) c.2178C>G (p.Asp726Glu) c.2121C>G (p.Asp707Glu) c.2067C>G (p.Asp689Glu) c.1860C>G (p.Asp620Glu) c.2274C>G (p.Asp758Glu) c.2268C>G (p.Asp756Glu) c.2265C>G (p.Asp755Glu) c.2325C>G (p.Asp775Glu) c.2316C>G (p.Asp772Glu) c.2235C>G (p.Asp745Glu) c.2184C>G (p.Asp728Glu) | |
| 14 | g.33800473C>T | CA486093214 | NPAS3 | c.2166C>T (p.Asp722=) c.2175C>T (p.Asp725=) c.2066C>T c.793+2892C>T c.2070C>T (p.Asp690=) c.2127C>T (p.Asp709=) c.2076C>T (p.Asp692=) c.2181C>T (p.Asp727=) c.2088C>T (p.Asp696=) c.2187C>T (p.Asp729=) c.2217C>T (p.Asp739=) c.2208C>T (p.Asp736=) c.2178C>T (p.Asp726=) c.2121C>T (p.Asp707=) c.2067C>T (p.Asp689=) c.1860C>T (p.Asp620=) c.2274C>T (p.Asp758=) c.2268C>T (p.Asp756=) c.2265C>T (p.Asp755=) c.2325C>T (p.Asp775=) c.2316C>T (p.Asp772=) c.2235C>T (p.Asp745=) c.2184C>T (p.Asp728=) | dbSNP gnomAD v4 |
| 14 | g.33800474G>A | CA258719206 | NPAS3 | c.2167G>A (p.Gly723Ser) c.2176G>A (p.Gly726Ser) c.2067G>A c.793+2893G>A c.2071G>A (p.Gly691Ser) c.2128G>A (p.Gly710Ser) c.2077G>A (p.Gly693Ser) c.2182G>A (p.Gly728Ser) c.2089G>A (p.Gly697Ser) c.2188G>A (p.Gly730Ser) c.2218G>A (p.Gly740Ser) c.2209G>A (p.Gly737Ser) c.2179G>A (p.Gly727Ser) c.2122G>A (p.Gly708Ser) c.2068G>A (p.Gly690Ser) c.1861G>A (p.Gly621Ser) c.2275G>A (p.Gly759Ser) c.2269G>A (p.Gly757Ser) c.2266G>A (p.Gly756Ser) c.2326G>A (p.Gly776Ser) c.2317G>A (p.Gly773Ser) c.2236G>A (p.Gly746Ser) c.2185G>A (p.Gly729Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800474G>C | CA389414120 | NPAS3 | c.2167G>C (p.Gly723Arg) c.2176G>C (p.Gly726Arg) c.2067G>C c.793+2893G>C c.2071G>C (p.Gly691Arg) c.2128G>C (p.Gly710Arg) c.2077G>C (p.Gly693Arg) c.2182G>C (p.Gly728Arg) c.2089G>C (p.Gly697Arg) c.2188G>C (p.Gly730Arg) c.2218G>C (p.Gly740Arg) c.2209G>C (p.Gly737Arg) c.2179G>C (p.Gly727Arg) c.2122G>C (p.Gly708Arg) c.2068G>C (p.Gly690Arg) c.1861G>C (p.Gly621Arg) c.2275G>C (p.Gly759Arg) c.2269G>C (p.Gly757Arg) c.2266G>C (p.Gly756Arg) c.2326G>C (p.Gly776Arg) c.2317G>C (p.Gly773Arg) c.2236G>C (p.Gly746Arg) c.2185G>C (p.Gly729Arg) | |
| 14 | g.33800474G= | CA2128327581 | NPAS3 | c.2167G= (p.Gly723=) c.2176G= (p.Gly726=) c.2067G= c.793+2893G= c.2071G= (p.Gly691=) c.2128G= (p.Gly710=) c.2077G= (p.Gly693=) c.2182G= (p.Gly728=) c.2089G= (p.Gly697=) c.2188G= (p.Gly730=) c.2218G= (p.Gly740=) c.2209G= (p.Gly737=) c.2179G= (p.Gly727=) c.2122G= (p.Gly708=) c.2068G= (p.Gly690=) c.1861G= (p.Gly621=) c.2275G= (p.Gly759=) c.2269G= (p.Gly757=) c.2266G= (p.Gly756=) c.2326G= (p.Gly776=) c.2317G= (p.Gly773=) c.2236G= (p.Gly746=) c.2185G= (p.Gly729=) | |
| 14 | g.33800474G>T | CA389414121 | NPAS3 | c.2167G>T (p.Gly723Cys) c.2176G>T (p.Gly726Cys) c.2067G>T c.793+2893G>T c.2071G>T (p.Gly691Cys) c.2128G>T (p.Gly710Cys) c.2077G>T (p.Gly693Cys) c.2182G>T (p.Gly728Cys) c.2089G>T (p.Gly697Cys) c.2188G>T (p.Gly730Cys) c.2218G>T (p.Gly740Cys) c.2209G>T (p.Gly737Cys) c.2179G>T (p.Gly727Cys) c.2122G>T (p.Gly708Cys) c.2068G>T (p.Gly690Cys) c.1861G>T (p.Gly621Cys) c.2275G>T (p.Gly759Cys) c.2269G>T (p.Gly757Cys) c.2266G>T (p.Gly756Cys) c.2326G>T (p.Gly776Cys) c.2317G>T (p.Gly773Cys) c.2236G>T (p.Gly746Cys) c.2185G>T (p.Gly729Cys) | |
| 14 | g.33800475G>A | CA389414123 | NPAS3 | c.2168G>A (p.Gly723Asp) c.2177G>A (p.Gly726Asp) c.2068G>A c.793+2894G>A c.2072G>A (p.Gly691Asp) c.2129G>A (p.Gly710Asp) c.2078G>A (p.Gly693Asp) c.2183G>A (p.Gly728Asp) c.2090G>A (p.Gly697Asp) c.2189G>A (p.Gly730Asp) c.2219G>A (p.Gly740Asp) c.2210G>A (p.Gly737Asp) c.2180G>A (p.Gly727Asp) c.2123G>A (p.Gly708Asp) c.2069G>A (p.Gly690Asp) c.1862G>A (p.Gly621Asp) c.2276G>A (p.Gly759Asp) c.2270G>A (p.Gly757Asp) c.2267G>A (p.Gly756Asp) c.2327G>A (p.Gly776Asp) c.2318G>A (p.Gly773Asp) c.2237G>A (p.Gly746Asp) c.2186G>A (p.Gly729Asp) | gnomAD v4 |
| 14 | g.33800475G>C | CA389414124 | NPAS3 | c.2168G>C (p.Gly723Ala) c.2177G>C (p.Gly726Ala) c.2068G>C c.793+2894G>C c.2072G>C (p.Gly691Ala) c.2129G>C (p.Gly710Ala) c.2078G>C (p.Gly693Ala) c.2183G>C (p.Gly728Ala) c.2090G>C (p.Gly697Ala) c.2189G>C (p.Gly730Ala) c.2219G>C (p.Gly740Ala) c.2210G>C (p.Gly737Ala) c.2180G>C (p.Gly727Ala) c.2123G>C (p.Gly708Ala) c.2069G>C (p.Gly690Ala) c.1862G>C (p.Gly621Ala) c.2276G>C (p.Gly759Ala) c.2270G>C (p.Gly757Ala) c.2267G>C (p.Gly756Ala) c.2327G>C (p.Gly776Ala) c.2318G>C (p.Gly773Ala) c.2237G>C (p.Gly746Ala) c.2186G>C (p.Gly729Ala) | |
| 14 | g.33800475G= | CA2128327584 | NPAS3 | c.2168G= (p.Gly723=) c.2177G= (p.Gly726=) c.2068G= c.793+2894G= c.2072G= (p.Gly691=) c.2129G= (p.Gly710=) c.2078G= (p.Gly693=) c.2183G= (p.Gly728=) c.2090G= (p.Gly697=) c.2189G= (p.Gly730=) c.2219G= (p.Gly740=) c.2210G= (p.Gly737=) c.2180G= (p.Gly727=) c.2123G= (p.Gly708=) c.2069G= (p.Gly690=) c.1862G= (p.Gly621=) c.2276G= (p.Gly759=) c.2270G= (p.Gly757=) c.2267G= (p.Gly756=) c.2327G= (p.Gly776=) c.2318G= (p.Gly773=) c.2237G= (p.Gly746=) c.2186G= (p.Gly729=) | |
| 14 | g.33800475G>T | CA389414122 | NPAS3 | c.2168G>T (p.Gly723Val) c.2177G>T (p.Gly726Val) c.2068G>T c.793+2894G>T c.2072G>T (p.Gly691Val) c.2129G>T (p.Gly710Val) c.2078G>T (p.Gly693Val) c.2183G>T (p.Gly728Val) c.2090G>T (p.Gly697Val) c.2189G>T (p.Gly730Val) c.2219G>T (p.Gly740Val) c.2210G>T (p.Gly737Val) c.2180G>T (p.Gly727Val) c.2123G>T (p.Gly708Val) c.2069G>T (p.Gly690Val) c.1862G>T (p.Gly621Val) c.2276G>T (p.Gly759Val) c.2270G>T (p.Gly757Val) c.2267G>T (p.Gly756Val) c.2327G>T (p.Gly776Val) c.2318G>T (p.Gly773Val) c.2237G>T (p.Gly746Val) c.2186G>T (p.Gly729Val) | gnomAD v4 |
| 14 | g.33800476C>A | CA486093221 | NPAS3 | c.2169C>A (p.Gly723=) c.2178C>A (p.Gly726=) c.2069C>A c.793+2895C>A c.2073C>A (p.Gly691=) c.2130C>A (p.Gly710=) c.2079C>A (p.Gly693=) c.2184C>A (p.Gly728=) c.2091C>A (p.Gly697=) c.2190C>A (p.Gly730=) c.2220C>A (p.Gly740=) c.2211C>A (p.Gly737=) c.2181C>A (p.Gly727=) c.2124C>A (p.Gly708=) c.2070C>A (p.Gly690=) c.1863C>A (p.Gly621=) c.2277C>A (p.Gly759=) c.2271C>A (p.Gly757=) c.2268C>A (p.Gly756=) c.2328C>A (p.Gly776=) c.2319C>A (p.Gly773=) c.2238C>A (p.Gly746=) c.2187C>A (p.Gly729=) | gnomAD v4 |
| 14 | g.33800476C= | CA2128327587 | NPAS3 | c.2169C= (p.Gly723=) c.2178C= (p.Gly726=) c.2069C= c.793+2895C= c.2073C= (p.Gly691=) c.2130C= (p.Gly710=) c.2079C= (p.Gly693=) c.2184C= (p.Gly728=) c.2091C= (p.Gly697=) c.2190C= (p.Gly730=) c.2220C= (p.Gly740=) c.2211C= (p.Gly737=) c.2181C= (p.Gly727=) c.2124C= (p.Gly708=) c.2070C= (p.Gly690=) c.1863C= (p.Gly621=) c.2277C= (p.Gly759=) c.2271C= (p.Gly757=) c.2268C= (p.Gly756=) c.2328C= (p.Gly776=) c.2319C= (p.Gly773=) c.2238C= (p.Gly746=) c.2187C= (p.Gly729=) | |
| 14 | g.33800476C>G | CA486093219 | NPAS3 | c.2169C>G (p.Gly723=) c.2178C>G (p.Gly726=) c.2069C>G c.793+2895C>G c.2073C>G (p.Gly691=) c.2130C>G (p.Gly710=) c.2079C>G (p.Gly693=) c.2184C>G (p.Gly728=) c.2091C>G (p.Gly697=) c.2190C>G (p.Gly730=) c.2220C>G (p.Gly740=) c.2211C>G (p.Gly737=) c.2181C>G (p.Gly727=) c.2124C>G (p.Gly708=) c.2070C>G (p.Gly690=) c.1863C>G (p.Gly621=) c.2277C>G (p.Gly759=) c.2271C>G (p.Gly757=) c.2268C>G (p.Gly756=) c.2328C>G (p.Gly776=) c.2319C>G (p.Gly773=) c.2238C>G (p.Gly746=) c.2187C>G (p.Gly729=) | gnomAD v4 |
| 14 | g.33800476C>T | CA486093220 | NPAS3 | c.2169C>T (p.Gly723=) c.2178C>T (p.Gly726=) c.2069C>T c.793+2895C>T c.2073C>T (p.Gly691=) c.2130C>T (p.Gly710=) c.2079C>T (p.Gly693=) c.2184C>T (p.Gly728=) c.2091C>T (p.Gly697=) c.2190C>T (p.Gly730=) c.2220C>T (p.Gly740=) c.2211C>T (p.Gly737=) c.2181C>T (p.Gly727=) c.2124C>T (p.Gly708=) c.2070C>T (p.Gly690=) c.1863C>T (p.Gly621=) c.2277C>T (p.Gly759=) c.2271C>T (p.Gly757=) c.2268C>T (p.Gly756=) c.2328C>T (p.Gly776=) c.2319C>T (p.Gly773=) c.2238C>T (p.Gly746=) c.2187C>T (p.Gly729=) | dbSNP gnomAD v4 |
| 14 | g.33800476_33800477insACGGCCGCCGCC | CA2128327586 | NPAS3 | c.2169_2170insACGGCCGCCGCC (p.Gly723_Ala724insThrAlaAlaAla) c.2178_2179insACGGCCGCCGCC (p.Gly726_Ala727insThrAlaAlaAla) c.2069_2070insACGGCCGCCGCC c.793+2895_793+2896insACGGCCGCCGCC c.2073_2074insACGGCCGCCGCC (p.Gly691_Ala692insThrAlaAlaAla) c.2130_2131insACGGCCGCCGCC (p.Gly710_Ala711insThrAlaAlaAla) c.2079_2080insACGGCCGCCGCC (p.Gly693_Ala694insThrAlaAlaAla) c.2184_2185insACGGCCGCCGCC (p.Gly728_Ala729insThrAlaAlaAla) c.2091_2092insACGGCCGCCGCC (p.Gly697_Ala698insThrAlaAlaAla) c.2190_2191insACGGCCGCCGCC (p.Gly730_Ala731insThrAlaAlaAla) c.2220_2221insACGGCCGCCGCC (p.Gly740_Ala741insThrAlaAlaAla) c.2211_2212insACGGCCGCCGCC (p.Gly737_Ala738insThrAlaAlaAla) c.2181_2182insACGGCCGCCGCC (p.Gly727_Ala728insThrAlaAlaAla) c.2124_2125insACGGCCGCCGCC (p.Gly708_Ala709insThrAlaAlaAla) c.2070_2071insACGGCCGCCGCC (p.Gly690_Ala691insThrAlaAlaAla) c.1863_1864insACGGCCGCCGCC (p.Gly621_Ala622insThrAlaAlaAla) c.2277_2278insACGGCCGCCGCC (p.Gly759_Ala760insThrAlaAlaAla) c.2271_2272insACGGCCGCCGCC (p.Gly757_Ala758insThrAlaAlaAla) c.2268_2269insACGGCCGCCGCC (p.Gly756_Ala757insThrAlaAlaAla) c.2328_2329insACGGCCGCCGCC (p.Gly776_Ala777insThrAlaAlaAla) c.2319_2320insACGGCCGCCGCC (p.Gly773_Ala774insThrAlaAlaAla) c.2238_2239insACGGCCGCCGCC (p.Gly746_Ala747insThrAlaAlaAla) c.2187_2188insACGGCCGCCGCC (p.Gly729_Ala730insThrAlaAlaAla) | dbSNP |
| 14 | g.33800477G>A | CA389414127 | NPAS3 | c.2170G>A (p.Ala724Thr) c.2179G>A (p.Ala727Thr) c.2070G>A c.793+2896G>A c.2074G>A (p.Ala692Thr) c.2131G>A (p.Ala711Thr) c.2080G>A (p.Ala694Thr) c.2185G>A (p.Ala729Thr) c.2092G>A (p.Ala698Thr) c.2191G>A (p.Ala731Thr) c.2221G>A (p.Ala741Thr) c.2212G>A (p.Ala738Thr) c.2182G>A (p.Ala728Thr) c.2125G>A (p.Ala709Thr) c.2071G>A (p.Ala691Thr) c.1864G>A (p.Ala622Thr) c.2278G>A (p.Ala760Thr) c.2272G>A (p.Ala758Thr) c.2269G>A (p.Ala757Thr) c.2329G>A (p.Ala777Thr) c.2320G>A (p.Ala774Thr) c.2239G>A (p.Ala747Thr) c.2188G>A (p.Ala730Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.33800477G>C | CA389414125 | NPAS3 | c.2170G>C (p.Ala724Pro) c.2179G>C (p.Ala727Pro) c.2070G>C c.793+2896G>C c.2074G>C (p.Ala692Pro) c.2131G>C (p.Ala711Pro) c.2080G>C (p.Ala694Pro) c.2185G>C (p.Ala729Pro) c.2092G>C (p.Ala698Pro) c.2191G>C (p.Ala731Pro) c.2221G>C (p.Ala741Pro) c.2212G>C (p.Ala738Pro) c.2182G>C (p.Ala728Pro) c.2125G>C (p.Ala709Pro) c.2071G>C (p.Ala691Pro) c.1864G>C (p.Ala622Pro) c.2278G>C (p.Ala760Pro) c.2272G>C (p.Ala758Pro) c.2269G>C (p.Ala757Pro) c.2329G>C (p.Ala777Pro) c.2320G>C (p.Ala774Pro) c.2239G>C (p.Ala747Pro) c.2188G>C (p.Ala730Pro) | gnomAD v4 |
| 14 | g.33800477G= | CA2128327590 | NPAS3 | c.2170G= (p.Ala724=) c.2179G= (p.Ala727=) c.2070G= c.793+2896G= c.2074G= (p.Ala692=) c.2131G= (p.Ala711=) c.2080G= (p.Ala694=) c.2185G= (p.Ala729=) c.2092G= (p.Ala698=) c.2191G= (p.Ala731=) c.2221G= (p.Ala741=) c.2212G= (p.Ala738=) c.2182G= (p.Ala728=) c.2125G= (p.Ala709=) c.2071G= (p.Ala691=) c.1864G= (p.Ala622=) c.2278G= (p.Ala760=) c.2272G= (p.Ala758=) c.2269G= (p.Ala757=) c.2329G= (p.Ala777=) c.2320G= (p.Ala774=) c.2239G= (p.Ala747=) c.2188G= (p.Ala730=) | |
| 14 | g.33800477G>T | CA389414126 | NPAS3 | c.2170G>T (p.Ala724Ser) c.2179G>T (p.Ala727Ser) c.2070G>T c.793+2896G>T c.2074G>T (p.Ala692Ser) c.2131G>T (p.Ala711Ser) c.2080G>T (p.Ala694Ser) c.2185G>T (p.Ala729Ser) c.2092G>T (p.Ala698Ser) c.2191G>T (p.Ala731Ser) c.2221G>T (p.Ala741Ser) c.2212G>T (p.Ala738Ser) c.2182G>T (p.Ala728Ser) c.2125G>T (p.Ala709Ser) c.2071G>T (p.Ala691Ser) c.1864G>T (p.Ala622Ser) c.2278G>T (p.Ala760Ser) c.2272G>T (p.Ala758Ser) c.2269G>T (p.Ala757Ser) c.2329G>T (p.Ala777Ser) c.2320G>T (p.Ala774Ser) c.2239G>T (p.Ala747Ser) c.2188G>T (p.Ala730Ser) | |
| 14 | g.33800478C>A | CA389414128 | NPAS3 | c.2171C>A (p.Ala724Glu) c.2180C>A (p.Ala727Glu) c.2071C>A c.793+2897C>A c.2075C>A (p.Ala692Glu) c.2132C>A (p.Ala711Glu) c.2081C>A (p.Ala694Glu) c.2186C>A (p.Ala729Glu) c.2093C>A (p.Ala698Glu) c.2192C>A (p.Ala731Glu) c.2222C>A (p.Ala741Glu) c.2213C>A (p.Ala738Glu) c.2183C>A (p.Ala728Glu) c.2126C>A (p.Ala709Glu) c.2072C>A (p.Ala691Glu) c.1865C>A (p.Ala622Glu) c.2279C>A (p.Ala760Glu) c.2273C>A (p.Ala758Glu) c.2270C>A (p.Ala757Glu) c.2330C>A (p.Ala777Glu) c.2321C>A (p.Ala774Glu) c.2240C>A (p.Ala747Glu) c.2189C>A (p.Ala730Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800478C= | CA2128327594 | NPAS3 | c.2171C= (p.Ala724=) c.2180C= (p.Ala727=) c.2071C= c.793+2897C= c.2075C= (p.Ala692=) c.2132C= (p.Ala711=) c.2081C= (p.Ala694=) c.2186C= (p.Ala729=) c.2093C= (p.Ala698=) c.2192C= (p.Ala731=) c.2222C= (p.Ala741=) c.2213C= (p.Ala738=) c.2183C= (p.Ala728=) c.2126C= (p.Ala709=) c.2072C= (p.Ala691=) c.1865C= (p.Ala622=) c.2279C= (p.Ala760=) c.2273C= (p.Ala758=) c.2270C= (p.Ala757=) c.2330C= (p.Ala777=) c.2321C= (p.Ala774=) c.2240C= (p.Ala747=) c.2189C= (p.Ala730=) | |
| 14 | g.33800478C>G | CA389414129 | NPAS3 | c.2171C>G (p.Ala724Gly) c.2180C>G (p.Ala727Gly) c.2071C>G c.793+2897C>G c.2075C>G (p.Ala692Gly) c.2132C>G (p.Ala711Gly) c.2081C>G (p.Ala694Gly) c.2186C>G (p.Ala729Gly) c.2093C>G (p.Ala698Gly) c.2192C>G (p.Ala731Gly) c.2222C>G (p.Ala741Gly) c.2213C>G (p.Ala738Gly) c.2183C>G (p.Ala728Gly) c.2126C>G (p.Ala709Gly) c.2072C>G (p.Ala691Gly) c.1865C>G (p.Ala622Gly) c.2279C>G (p.Ala760Gly) c.2273C>G (p.Ala758Gly) c.2270C>G (p.Ala757Gly) c.2330C>G (p.Ala777Gly) c.2321C>G (p.Ala774Gly) c.2240C>G (p.Ala747Gly) c.2189C>G (p.Ala730Gly) | |
| 14 | g.33800478C>T | CA389414130 | NPAS3 | c.2171C>T (p.Ala724Val) c.2180C>T (p.Ala727Val) c.2071C>T c.793+2897C>T c.2075C>T (p.Ala692Val) c.2132C>T (p.Ala711Val) c.2081C>T (p.Ala694Val) c.2186C>T (p.Ala729Val) c.2093C>T (p.Ala698Val) c.2192C>T (p.Ala731Val) c.2222C>T (p.Ala741Val) c.2213C>T (p.Ala738Val) c.2183C>T (p.Ala728Val) c.2126C>T (p.Ala709Val) c.2072C>T (p.Ala691Val) c.1865C>T (p.Ala622Val) c.2279C>T (p.Ala760Val) c.2273C>T (p.Ala758Val) c.2270C>T (p.Ala757Val) c.2330C>T (p.Ala777Val) c.2321C>T (p.Ala774Val) c.2240C>T (p.Ala747Val) c.2189C>T (p.Ala730Val) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800479G>A | CA486093223 | NPAS3 | c.2172G>A (p.Ala724=) c.2181G>A (p.Ala727=) c.2072G>A c.793+2898G>A c.2076G>A (p.Ala692=) c.2133G>A (p.Ala711=) c.2082G>A (p.Ala694=) c.2187G>A (p.Ala729=) c.2094G>A (p.Ala698=) c.2193G>A (p.Ala731=) c.2223G>A (p.Ala741=) c.2214G>A (p.Ala738=) c.2184G>A (p.Ala728=) c.2127G>A (p.Ala709=) c.2073G>A (p.Ala691=) c.1866G>A (p.Ala622=) c.2280G>A (p.Ala760=) c.2274G>A (p.Ala758=) c.2271G>A (p.Ala757=) c.2331G>A (p.Ala777=) c.2322G>A (p.Ala774=) c.2241G>A (p.Ala747=) c.2190G>A (p.Ala730=) | dbSNP gnomAD v4 |
| 14 | g.33800479G>C | CA486093225 | NPAS3 | c.2172G>C (p.Ala724=) c.2181G>C (p.Ala727=) c.2072G>C c.793+2898G>C c.2076G>C (p.Ala692=) c.2133G>C (p.Ala711=) c.2082G>C (p.Ala694=) c.2187G>C (p.Ala729=) c.2094G>C (p.Ala698=) c.2193G>C (p.Ala731=) c.2223G>C (p.Ala741=) c.2214G>C (p.Ala738=) c.2184G>C (p.Ala728=) c.2127G>C (p.Ala709=) c.2073G>C (p.Ala691=) c.1866G>C (p.Ala622=) c.2280G>C (p.Ala760=) c.2274G>C (p.Ala758=) c.2271G>C (p.Ala757=) c.2331G>C (p.Ala777=) c.2322G>C (p.Ala774=) c.2241G>C (p.Ala747=) c.2190G>C (p.Ala730=) | |
| 14 | g.33800479G= | CA2128327597 | NPAS3 | c.2172G= (p.Ala724=) c.2181G= (p.Ala727=) c.2072G= c.793+2898G= c.2076G= (p.Ala692=) c.2133G= (p.Ala711=) c.2082G= (p.Ala694=) c.2187G= (p.Ala729=) c.2094G= (p.Ala698=) c.2193G= (p.Ala731=) c.2223G= (p.Ala741=) c.2214G= (p.Ala738=) c.2184G= (p.Ala728=) c.2127G= (p.Ala709=) c.2073G= (p.Ala691=) c.1866G= (p.Ala622=) c.2280G= (p.Ala760=) c.2274G= (p.Ala758=) c.2271G= (p.Ala757=) c.2331G= (p.Ala777=) c.2322G= (p.Ala774=) c.2241G= (p.Ala747=) c.2190G= (p.Ala730=) | |
| 14 | g.33800479G>T | CA486093224 | NPAS3 | c.2172G>T (p.Ala724=) c.2181G>T (p.Ala727=) c.2072G>T c.793+2898G>T c.2076G>T (p.Ala692=) c.2133G>T (p.Ala711=) c.2082G>T (p.Ala694=) c.2187G>T (p.Ala729=) c.2094G>T (p.Ala698=) c.2193G>T (p.Ala731=) c.2223G>T (p.Ala741=) c.2214G>T (p.Ala738=) c.2184G>T (p.Ala728=) c.2127G>T (p.Ala709=) c.2073G>T (p.Ala691=) c.1866G>T (p.Ala622=) c.2280G>T (p.Ala760=) c.2274G>T (p.Ala758=) c.2271G>T (p.Ala757=) c.2331G>T (p.Ala777=) c.2322G>T (p.Ala774=) c.2241G>T (p.Ala747=) c.2190G>T (p.Ala730=) | gnomAD v4 |
| 14 | g.33800480G>A | CA389414133 | NPAS3 | c.2173G>A (p.Ala725Thr) c.2182G>A (p.Ala728Thr) c.2073G>A c.793+2899G>A c.2077G>A (p.Ala693Thr) c.2134G>A (p.Ala712Thr) c.2083G>A (p.Ala695Thr) c.2188G>A (p.Ala730Thr) c.2095G>A (p.Ala699Thr) c.2194G>A (p.Ala732Thr) c.2224G>A (p.Ala742Thr) c.2215G>A (p.Ala739Thr) c.2185G>A (p.Ala729Thr) c.2128G>A (p.Ala710Thr) c.2074G>A (p.Ala692Thr) c.1867G>A (p.Ala623Thr) c.2281G>A (p.Ala761Thr) c.2275G>A (p.Ala759Thr) c.2272G>A (p.Ala758Thr) c.2332G>A (p.Ala778Thr) c.2323G>A (p.Ala775Thr) c.2242G>A (p.Ala748Thr) c.2191G>A (p.Ala731Thr) | dbSNP gnomAD v4 |
| 14 | g.33800480G>C | CA389414132 | NPAS3 | c.2173G>C (p.Ala725Pro) c.2182G>C (p.Ala728Pro) c.2073G>C c.793+2899G>C c.2077G>C (p.Ala693Pro) c.2134G>C (p.Ala712Pro) c.2083G>C (p.Ala695Pro) c.2188G>C (p.Ala730Pro) c.2095G>C (p.Ala699Pro) c.2194G>C (p.Ala732Pro) c.2224G>C (p.Ala742Pro) c.2215G>C (p.Ala739Pro) c.2185G>C (p.Ala729Pro) c.2128G>C (p.Ala710Pro) c.2074G>C (p.Ala692Pro) c.1867G>C (p.Ala623Pro) c.2281G>C (p.Ala761Pro) c.2275G>C (p.Ala759Pro) c.2272G>C (p.Ala758Pro) c.2332G>C (p.Ala778Pro) c.2323G>C (p.Ala775Pro) c.2242G>C (p.Ala748Pro) c.2191G>C (p.Ala731Pro) | dbSNP gnomAD v4 |
| 14 | g.33800480G= | CA2128327598 | NPAS3 | c.2173G= (p.Ala725=) c.2182G= (p.Ala728=) c.2073G= c.793+2899G= c.2077G= (p.Ala693=) c.2134G= (p.Ala712=) c.2083G= (p.Ala695=) c.2188G= (p.Ala730=) c.2095G= (p.Ala699=) c.2194G= (p.Ala732=) c.2224G= (p.Ala742=) c.2215G= (p.Ala739=) c.2185G= (p.Ala729=) c.2128G= (p.Ala710=) c.2074G= (p.Ala692=) c.1867G= (p.Ala623=) c.2281G= (p.Ala761=) c.2275G= (p.Ala759=) c.2272G= (p.Ala758=) c.2332G= (p.Ala778=) c.2323G= (p.Ala775=) c.2242G= (p.Ala748=) c.2191G= (p.Ala731=) | |
| 14 | g.33800480G>T | CA389414131 | NPAS3 | c.2173G>T (p.Ala725Ser) c.2182G>T (p.Ala728Ser) c.2073G>T c.793+2899G>T c.2077G>T (p.Ala693Ser) c.2134G>T (p.Ala712Ser) c.2083G>T (p.Ala695Ser) c.2188G>T (p.Ala730Ser) c.2095G>T (p.Ala699Ser) c.2194G>T (p.Ala732Ser) c.2224G>T (p.Ala742Ser) c.2215G>T (p.Ala739Ser) c.2185G>T (p.Ala729Ser) c.2128G>T (p.Ala710Ser) c.2074G>T (p.Ala692Ser) c.1867G>T (p.Ala623Ser) c.2281G>T (p.Ala761Ser) c.2275G>T (p.Ala759Ser) c.2272G>T (p.Ala758Ser) c.2332G>T (p.Ala778Ser) c.2323G>T (p.Ala775Ser) c.2242G>T (p.Ala748Ser) c.2191G>T (p.Ala731Ser) | gnomAD v4 |
| 14 | g.33800481C>A | CA389414134 | NPAS3 | c.2174C>A (p.Ala725Asp) c.2183C>A (p.Ala728Asp) c.2074C>A c.793+2900C>A c.2078C>A (p.Ala693Asp) c.2135C>A (p.Ala712Asp) c.2084C>A (p.Ala695Asp) c.2189C>A (p.Ala730Asp) c.2096C>A (p.Ala699Asp) c.2195C>A (p.Ala732Asp) c.2225C>A (p.Ala742Asp) c.2216C>A (p.Ala739Asp) c.2186C>A (p.Ala729Asp) c.2129C>A (p.Ala710Asp) c.2075C>A (p.Ala692Asp) c.1868C>A (p.Ala623Asp) c.2282C>A (p.Ala761Asp) c.2276C>A (p.Ala759Asp) c.2273C>A (p.Ala758Asp) c.2333C>A (p.Ala778Asp) c.2324C>A (p.Ala775Asp) c.2243C>A (p.Ala748Asp) c.2192C>A (p.Ala731Asp) | dbSNP gnomAD v4 |
| 14 | g.33800481C= | CA2128327600 | NPAS3 | c.2174C= (p.Ala725=) c.2183C= (p.Ala728=) c.2074C= c.793+2900C= c.2078C= (p.Ala693=) c.2135C= (p.Ala712=) c.2084C= (p.Ala695=) c.2189C= (p.Ala730=) c.2096C= (p.Ala699=) c.2195C= (p.Ala732=) c.2225C= (p.Ala742=) c.2216C= (p.Ala739=) c.2186C= (p.Ala729=) c.2129C= (p.Ala710=) c.2075C= (p.Ala692=) c.1868C= (p.Ala623=) c.2282C= (p.Ala761=) c.2276C= (p.Ala759=) c.2273C= (p.Ala758=) c.2333C= (p.Ala778=) c.2324C= (p.Ala775=) c.2243C= (p.Ala748=) c.2192C= (p.Ala731=) |