| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.159341628_159341630del | CA2672534889 | RAPGEF2 | c.2116_2118del (p.Leu706del) c.2599_2601del (p.Leu867del) c.2581_2583del (p.Leu861del) c.2245_2247del (p.Leu749del) c.2251_2253del (p.Leu751del) c.2263_2265del (p.Leu755del) c.2233_2235del (p.Leu745del) | gnomAD v4 |
| 4 | g.159341626T>A | CA358591119 | RAPGEF2 | c.2114T>A (p.Leu705Ter) c.2597T>A (p.Leu866Ter) c.2579T>A (p.Leu860Ter) c.2243T>A (p.Leu748Ter) c.2249T>A (p.Leu750Ter) c.2261T>A (p.Leu754Ter) c.2231T>A (p.Leu744Ter) | |
| 4 | g.159341626T>C | CA358591120 | RAPGEF2 | c.2114T>C (p.Leu705Ser) c.2597T>C (p.Leu866Ser) c.2579T>C (p.Leu860Ser) c.2243T>C (p.Leu748Ser) c.2249T>C (p.Leu750Ser) c.2261T>C (p.Leu754Ser) c.2231T>C (p.Leu744Ser) | |
| 4 | g.159341626T>G | CA358591121 | RAPGEF2 | c.2114T>G (p.Leu705Trp) c.2597T>G (p.Leu866Trp) c.2579T>G (p.Leu860Trp) c.2243T>G (p.Leu748Trp) c.2249T>G (p.Leu750Trp) c.2261T>G (p.Leu754Trp) c.2231T>G (p.Leu744Trp) | |
| 4 | g.159341627G>A | CA442144687 | RAPGEF2 | c.2115G>A (p.Leu705=) c.2598G>A (p.Leu866=) c.2580G>A (p.Leu860=) c.2244G>A (p.Leu748=) c.2250G>A (p.Leu750=) c.2262G>A (p.Leu754=) c.2232G>A (p.Leu744=) | |
| 4 | g.159341627G>C | CA358591122 | RAPGEF2 | c.2115G>C (p.Leu705Phe) c.2598G>C (p.Leu866Phe) c.2580G>C (p.Leu860Phe) c.2244G>C (p.Leu748Phe) c.2250G>C (p.Leu750Phe) c.2262G>C (p.Leu754Phe) c.2232G>C (p.Leu744Phe) | |
| 4 | g.159341627G>T | CA358591123 | RAPGEF2 | c.2115G>T (p.Leu705Phe) c.2598G>T (p.Leu866Phe) c.2580G>T (p.Leu860Phe) c.2244G>T (p.Leu748Phe) c.2250G>T (p.Leu750Phe) c.2262G>T (p.Leu754Phe) c.2232G>T (p.Leu744Phe) | |
| 4 | g.159341628T>A | CA358591125 | RAPGEF2 | c.2116T>A (p.Leu706Met) c.2599T>A (p.Leu867Met) c.2581T>A (p.Leu861Met) c.2245T>A (p.Leu749Met) c.2251T>A (p.Leu751Met) c.2263T>A (p.Leu755Met) c.2233T>A (p.Leu745Met) | |
| 4 | g.159341628T>C | CA3124791 | RAPGEF2 | c.2116T>C (p.Leu706=) c.2599T>C (p.Leu867=) c.2581T>C (p.Leu861=) c.2245T>C (p.Leu749=) c.2251T>C (p.Leu751=) c.2263T>C (p.Leu755=) c.2233T>C (p.Leu745=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341628T>G | CA358591124 | RAPGEF2 | c.2116T>G (p.Leu706Val) c.2599T>G (p.Leu867Val) c.2581T>G (p.Leu861Val) c.2245T>G (p.Leu749Val) c.2251T>G (p.Leu751Val) c.2263T>G (p.Leu755Val) c.2233T>G (p.Leu745Val) | |
| 4 | g.159341628T= | CA1507167708 | RAPGEF2 | c.2116T= (p.Leu706=) c.2599T= (p.Leu867=) c.2581T= (p.Leu861=) c.2245T= (p.Leu749=) c.2251T= (p.Leu751=) c.2263T= (p.Leu755=) c.2233T= (p.Leu745=) | |
| 4 | g.159341629T>A | CA358591126 | RAPGEF2 | c.2117T>A (p.Leu706Ter) c.2600T>A (p.Leu867Ter) c.2582T>A (p.Leu861Ter) c.2246T>A (p.Leu749Ter) c.2252T>A (p.Leu751Ter) c.2264T>A (p.Leu755Ter) c.2234T>A (p.Leu745Ter) | |
| 4 | g.159341629T>C | CA358591127 | RAPGEF2 | c.2117T>C (p.Leu706Ser) c.2600T>C (p.Leu867Ser) c.2582T>C (p.Leu861Ser) c.2246T>C (p.Leu749Ser) c.2252T>C (p.Leu751Ser) c.2264T>C (p.Leu755Ser) c.2234T>C (p.Leu745Ser) | |
| 4 | g.159341629T>G | CA358591128 | RAPGEF2 | c.2117T>G (p.Leu706Trp) c.2600T>G (p.Leu867Trp) c.2582T>G (p.Leu861Trp) c.2246T>G (p.Leu749Trp) c.2252T>G (p.Leu751Trp) c.2264T>G (p.Leu755Trp) c.2234T>G (p.Leu745Trp) | gnomAD v4 |
| 4 | g.159341630G>A | CA442144688 | RAPGEF2 | c.2118G>A (p.Leu706=) c.2601G>A (p.Leu867=) c.2583G>A (p.Leu861=) c.2247G>A (p.Leu749=) c.2253G>A (p.Leu751=) c.2265G>A (p.Leu755=) c.2235G>A (p.Leu745=) | |
| 4 | g.159341630G>C | CA358591129 | RAPGEF2 | c.2118G>C (p.Leu706Phe) c.2601G>C (p.Leu867Phe) c.2583G>C (p.Leu861Phe) c.2247G>C (p.Leu749Phe) c.2253G>C (p.Leu751Phe) c.2265G>C (p.Leu755Phe) c.2235G>C (p.Leu745Phe) | |
| 4 | g.159341630G>T | CA358591130 | RAPGEF2 | c.2118G>T (p.Leu706Phe) c.2601G>T (p.Leu867Phe) c.2583G>T (p.Leu861Phe) c.2247G>T (p.Leu749Phe) c.2253G>T (p.Leu751Phe) c.2265G>T (p.Leu755Phe) c.2235G>T (p.Leu745Phe) | gnomAD v4 |
| 4 | g.159341637_159341638del | CA2672534896 | RAPGEF2 | c.2125_2126del (p.Gln710AsnfsTer21) c.2608_2609del (p.Gln871AsnfsTer21) c.2590_2591del (p.Gln865AsnfsTer21) c.2254_2255del (p.Gln753AsnfsTer21) c.2260_2261del (p.Gln755AsnfsTer21) c.2272_2273del (p.Gln759AsnfsTer21) c.2242_2243del (p.Gln749AsnfsTer21) | gnomAD v4 |
| 4 | g.159341635_159341638del | CA645540200 | RAPGEF2 | c.2123_2126del (p.Glu708ValfsTer?) c.2606_2609del (p.Glu869ValfsTer?) c.2588_2591del (p.Glu863ValfsTer?) c.2252_2255del (p.Glu751ValfsTer?) c.2258_2261del (p.Glu753ValfsTer?) c.2270_2273del (p.Glu757ValfsTer?) c.2240_2243del (p.Glu747ValfsTer?) | gnomAD v4 COSMIC |
| 4 | g.159341631A>C | CA442144689 | RAPGEF2 | c.2119A>C (p.Arg707=) c.2602A>C (p.Arg868=) c.2584A>C (p.Arg862=) c.2248A>C (p.Arg750=) c.2254A>C (p.Arg752=) c.2266A>C (p.Arg756=) c.2236A>C (p.Arg746=) | |
| 4 | g.159341631A>G | CA358591131 | RAPGEF2 | c.2119A>G (p.Arg707Gly) c.2602A>G (p.Arg868Gly) c.2584A>G (p.Arg862Gly) c.2248A>G (p.Arg750Gly) c.2254A>G (p.Arg752Gly) c.2266A>G (p.Arg756Gly) c.2236A>G (p.Arg746Gly) | |
| 4 | g.159341631A>T | CA358591132 | RAPGEF2 | c.2119A>T (p.Arg707Ter) c.2602A>T (p.Arg868Ter) c.2584A>T (p.Arg862Ter) c.2248A>T (p.Arg750Ter) c.2254A>T (p.Arg752Ter) c.2266A>T (p.Arg756Ter) c.2236A>T (p.Arg746Ter) | |
| 4 | g.159341632G>A | CA358591133 | RAPGEF2 | c.2120G>A (p.Arg707Lys) c.2603G>A (p.Arg868Lys) c.2585G>A (p.Arg862Lys) c.2249G>A (p.Arg750Lys) c.2255G>A (p.Arg752Lys) c.2267G>A (p.Arg756Lys) c.2237G>A (p.Arg746Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.159341632G>C | CA358591134 | RAPGEF2 | c.2120G>C (p.Arg707Thr) c.2603G>C (p.Arg868Thr) c.2585G>C (p.Arg862Thr) c.2249G>C (p.Arg750Thr) c.2255G>C (p.Arg752Thr) c.2267G>C (p.Arg756Thr) c.2237G>C (p.Arg746Thr) | |
| 4 | g.159341632G= | CA1507167709 | RAPGEF2 | c.2120G= (p.Arg707=) c.2603G= (p.Arg868=) c.2585G= (p.Arg862=) c.2249G= (p.Arg750=) c.2255G= (p.Arg752=) c.2267G= (p.Arg756=) c.2237G= (p.Arg746=) | |
| 4 | g.159341632G>T | CA358591135 | RAPGEF2 | c.2120G>T (p.Arg707Ile) c.2603G>T (p.Arg868Ile) c.2585G>T (p.Arg862Ile) c.2249G>T (p.Arg750Ile) c.2255G>T (p.Arg752Ile) c.2267G>T (p.Arg756Ile) c.2237G>T (p.Arg746Ile) | |
| 4 | g.159341633A= | CA1507167710 | RAPGEF2 | c.2121A= (p.Arg707=) c.2604A= (p.Arg868=) c.2586A= (p.Arg862=) c.2250A= (p.Arg750=) c.2256A= (p.Arg752=) c.2268A= (p.Arg756=) c.2238A= (p.Arg746=) | |
| 4 | g.159341633A>C | CA358591136 | RAPGEF2 | c.2121A>C (p.Arg707Ser) c.2604A>C (p.Arg868Ser) c.2586A>C (p.Arg862Ser) c.2250A>C (p.Arg750Ser) c.2256A>C (p.Arg752Ser) c.2268A>C (p.Arg756Ser) c.2238A>C (p.Arg746Ser) | |
| 4 | g.159341633A>G | CA108901834 | RAPGEF2 | c.2121A>G (p.Arg707=) c.2604A>G (p.Arg868=) c.2586A>G (p.Arg862=) c.2250A>G (p.Arg750=) c.2256A>G (p.Arg752=) c.2268A>G (p.Arg756=) c.2238A>G (p.Arg746=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341633A>T | CA358591137 | RAPGEF2 | c.2121A>T (p.Arg707Ser) c.2604A>T (p.Arg868Ser) c.2586A>T (p.Arg862Ser) c.2250A>T (p.Arg750Ser) c.2256A>T (p.Arg752Ser) c.2268A>T (p.Arg756Ser) c.2238A>T (p.Arg746Ser) | |
| 4 | g.159341634G>A | CA358591138 | RAPGEF2 | c.2122G>A (p.Glu708Lys) c.2605G>A (p.Glu869Lys) c.2587G>A (p.Glu863Lys) c.2251G>A (p.Glu751Lys) c.2257G>A (p.Glu753Lys) c.2269G>A (p.Glu757Lys) c.2239G>A (p.Glu747Lys) | |
| 4 | g.159341634G>C | CA358591140 | RAPGEF2 | c.2122G>C (p.Glu708Gln) c.2605G>C (p.Glu869Gln) c.2587G>C (p.Glu863Gln) c.2251G>C (p.Glu751Gln) c.2257G>C (p.Glu753Gln) c.2269G>C (p.Glu757Gln) c.2239G>C (p.Glu747Gln) | |
| 4 | g.159341634G>T | CA358591139 | RAPGEF2 | c.2122G>T (p.Glu708Ter) c.2605G>T (p.Glu869Ter) c.2587G>T (p.Glu863Ter) c.2251G>T (p.Glu751Ter) c.2257G>T (p.Glu753Ter) c.2269G>T (p.Glu757Ter) c.2239G>T (p.Glu747Ter) | |
| 4 | g.159341635A>C | CA358591141 | RAPGEF2 | c.2123A>C (p.Glu708Ala) c.2606A>C (p.Glu869Ala) c.2588A>C (p.Glu863Ala) c.2252A>C (p.Glu751Ala) c.2258A>C (p.Glu753Ala) c.2270A>C (p.Glu757Ala) c.2240A>C (p.Glu747Ala) | |
| 4 | g.159341635A>G | CA358591143 | RAPGEF2 | c.2123A>G (p.Glu708Gly) c.2606A>G (p.Glu869Gly) c.2588A>G (p.Glu863Gly) c.2252A>G (p.Glu751Gly) c.2258A>G (p.Glu753Gly) c.2270A>G (p.Glu757Gly) c.2240A>G (p.Glu747Gly) | |
| 4 | g.159341635A>T | CA358591142 | RAPGEF2 | c.2123A>T (p.Glu708Val) c.2606A>T (p.Glu869Val) c.2588A>T (p.Glu863Val) c.2252A>T (p.Glu751Val) c.2258A>T (p.Glu753Val) c.2270A>T (p.Glu757Val) c.2240A>T (p.Glu747Val) | |
| 4 | g.159341636G>A | CA442144690 | RAPGEF2 | c.2124G>A (p.Glu708=) c.2607G>A (p.Glu869=) c.2589G>A (p.Glu863=) c.2253G>A (p.Glu751=) c.2259G>A (p.Glu753=) c.2271G>A (p.Glu757=) c.2241G>A (p.Glu747=) | |
| 4 | g.159341636G>C | CA3124792 | RAPGEF2 | c.2124G>C (p.Glu708Asp) c.2607G>C (p.Glu869Asp) c.2589G>C (p.Glu863Asp) c.2253G>C (p.Glu751Asp) c.2259G>C (p.Glu753Asp) c.2271G>C (p.Glu757Asp) c.2241G>C (p.Glu747Asp) | dbSNP ExAC gnomAD v2 |
| 4 | g.159341636G= | CA1507167711 | RAPGEF2 | c.2124G= (p.Glu708=) c.2607G= (p.Glu869=) c.2589G= (p.Glu863=) c.2253G= (p.Glu751=) c.2259G= (p.Glu753=) c.2271G= (p.Glu757=) c.2241G= (p.Glu747=) | |
| 4 | g.159341636G>T | CA358591144 | RAPGEF2 | c.2124G>T (p.Glu708Asp) c.2607G>T (p.Glu869Asp) c.2589G>T (p.Glu863Asp) c.2253G>T (p.Glu751Asp) c.2259G>T (p.Glu753Asp) c.2271G>T (p.Glu757Asp) c.2241G>T (p.Glu747Asp) | |
| 4 | g.159341637A>C | CA358591145 | RAPGEF2 | c.2125A>C (p.Ser709Arg) c.2608A>C (p.Ser870Arg) c.2590A>C (p.Ser864Arg) c.2254A>C (p.Ser752Arg) c.2260A>C (p.Ser754Arg) c.2272A>C (p.Ser758Arg) c.2242A>C (p.Ser748Arg) | |
| 4 | g.159341637A>G | CA358591147 | RAPGEF2 | c.2125A>G (p.Ser709Gly) c.2608A>G (p.Ser870Gly) c.2590A>G (p.Ser864Gly) c.2254A>G (p.Ser752Gly) c.2260A>G (p.Ser754Gly) c.2272A>G (p.Ser758Gly) c.2242A>G (p.Ser748Gly) | |
| 4 | g.159341637A>T | CA358591146 | RAPGEF2 | c.2125A>T (p.Ser709Cys) c.2608A>T (p.Ser870Cys) c.2590A>T (p.Ser864Cys) c.2254A>T (p.Ser752Cys) c.2260A>T (p.Ser754Cys) c.2272A>T (p.Ser758Cys) c.2242A>T (p.Ser748Cys) | |
| 4 | g.159341638G>A | CA358591148 | RAPGEF2 | c.2126G>A (p.Ser709Asn) c.2609G>A (p.Ser870Asn) c.2591G>A (p.Ser864Asn) c.2255G>A (p.Ser752Asn) c.2261G>A (p.Ser754Asn) c.2273G>A (p.Ser758Asn) c.2243G>A (p.Ser748Asn) | gnomAD v4 |
| 4 | g.159341638G>C | CA358591149 | RAPGEF2 | c.2126G>C (p.Ser709Thr) c.2609G>C (p.Ser870Thr) c.2591G>C (p.Ser864Thr) c.2255G>C (p.Ser752Thr) c.2261G>C (p.Ser754Thr) c.2273G>C (p.Ser758Thr) c.2243G>C (p.Ser748Thr) | |
| 4 | g.159341638G>T | CA358591150 | RAPGEF2 | c.2126G>T (p.Ser709Ile) c.2609G>T (p.Ser870Ile) c.2591G>T (p.Ser864Ile) c.2255G>T (p.Ser752Ile) c.2261G>T (p.Ser754Ile) c.2273G>T (p.Ser758Ile) c.2243G>T (p.Ser748Ile) | |
| 4 | g.159341639T>A | CA358591151 | RAPGEF2 | c.2127T>A (p.Ser709Arg) c.2610T>A (p.Ser870Arg) c.2592T>A (p.Ser864Arg) c.2256T>A (p.Ser752Arg) c.2262T>A (p.Ser754Arg) c.2274T>A (p.Ser758Arg) c.2244T>A (p.Ser748Arg) | |
| 4 | g.159341639T>C | CA442144691 | RAPGEF2 | c.2127T>C (p.Ser709=) c.2610T>C (p.Ser870=) c.2592T>C (p.Ser864=) c.2256T>C (p.Ser752=) c.2262T>C (p.Ser754=) c.2274T>C (p.Ser758=) c.2244T>C (p.Ser748=) | |
| 4 | g.159341639T>G | CA358591152 | RAPGEF2 | c.2127T>G (p.Ser709Arg) c.2610T>G (p.Ser870Arg) c.2592T>G (p.Ser864Arg) c.2256T>G (p.Ser752Arg) c.2262T>G (p.Ser754Arg) c.2274T>G (p.Ser758Arg) c.2244T>G (p.Ser748Arg) | |
| 4 | g.159341640C>A | CA358591153 | RAPGEF2 | c.2128C>A (p.Gln710Lys) c.2611C>A (p.Gln871Lys) c.2593C>A (p.Gln865Lys) c.2257C>A (p.Gln753Lys) c.2263C>A (p.Gln755Lys) c.2275C>A (p.Gln759Lys) c.2245C>A (p.Gln749Lys) | |
| 4 | g.159341640C>G | CA358591154 | RAPGEF2 | c.2128C>G (p.Gln710Glu) c.2611C>G (p.Gln871Glu) c.2593C>G (p.Gln865Glu) c.2257C>G (p.Gln753Glu) c.2263C>G (p.Gln755Glu) c.2275C>G (p.Gln759Glu) c.2245C>G (p.Gln749Glu) | |
| 4 | g.159341640C>T | CA358591155 | RAPGEF2 | c.2128C>T (p.Gln710Ter) c.2611C>T (p.Gln871Ter) c.2593C>T (p.Gln865Ter) c.2257C>T (p.Gln753Ter) c.2263C>T (p.Gln755Ter) c.2275C>T (p.Gln759Ter) c.2245C>T (p.Gln749Ter) | |
| 4 | g.159341641A>C | CA358591156 | RAPGEF2 | c.2129A>C (p.Gln710Pro) c.2612A>C (p.Gln871Pro) c.2594A>C (p.Gln865Pro) c.2258A>C (p.Gln753Pro) c.2264A>C (p.Gln755Pro) c.2276A>C (p.Gln759Pro) c.2246A>C (p.Gln749Pro) | |
| 4 | g.159341641A>G | CA358591157 | RAPGEF2 | c.2129A>G (p.Gln710Arg) c.2612A>G (p.Gln871Arg) c.2594A>G (p.Gln865Arg) c.2258A>G (p.Gln753Arg) c.2264A>G (p.Gln755Arg) c.2276A>G (p.Gln759Arg) c.2246A>G (p.Gln749Arg) | |
| 4 | g.159341641A>T | CA358591158 | RAPGEF2 | c.2129A>T (p.Gln710Leu) c.2612A>T (p.Gln871Leu) c.2594A>T (p.Gln865Leu) c.2258A>T (p.Gln753Leu) c.2264A>T (p.Gln755Leu) c.2276A>T (p.Gln759Leu) c.2246A>T (p.Gln749Leu) | |
| 4 | g.159341642A= | CA1507167712 | RAPGEF2 | c.2130A= (p.Gln710=) c.2613A= (p.Gln871=) c.2595A= (p.Gln865=) c.2259A= (p.Gln753=) c.2265A= (p.Gln755=) c.2277A= (p.Gln759=) c.2247A= (p.Gln749=) | |
| 4 | g.159341642A>C | CA358591159 | RAPGEF2 | c.2130A>C (p.Gln710His) c.2613A>C (p.Gln871His) c.2595A>C (p.Gln865His) c.2259A>C (p.Gln753His) c.2265A>C (p.Gln755His) c.2277A>C (p.Gln759His) c.2247A>C (p.Gln749His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341642A>G | CA442144692 | RAPGEF2 | c.2130A>G (p.Gln710=) c.2613A>G (p.Gln871=) c.2595A>G (p.Gln865=) c.2259A>G (p.Gln753=) c.2265A>G (p.Gln755=) c.2277A>G (p.Gln759=) c.2247A>G (p.Gln749=) | gnomAD v4 |
| 4 | g.159341642A>T | CA358591160 | RAPGEF2 | c.2130A>T (p.Gln710His) c.2613A>T (p.Gln871His) c.2595A>T (p.Gln865His) c.2259A>T (p.Gln753His) c.2265A>T (p.Gln755His) c.2277A>T (p.Gln759His) c.2247A>T (p.Gln749His) | gnomAD v4 |
| 4 | g.159341643A>C | CA358591163 | RAPGEF2 | c.2131A>C (p.Ile711Leu) c.2614A>C (p.Ile872Leu) c.2596A>C (p.Ile866Leu) c.2260A>C (p.Ile754Leu) c.2266A>C (p.Ile756Leu) c.2278A>C (p.Ile760Leu) c.2248A>C (p.Ile750Leu) | |
| 4 | g.159341643A>G | CA358591162 | RAPGEF2 | c.2131A>G (p.Ile711Val) c.2614A>G (p.Ile872Val) c.2596A>G (p.Ile866Val) c.2260A>G (p.Ile754Val) c.2266A>G (p.Ile756Val) c.2278A>G (p.Ile760Val) c.2248A>G (p.Ile750Val) | |
| 4 | g.159341643A>T | CA358591161 | RAPGEF2 | c.2131A>T (p.Ile711Phe) c.2614A>T (p.Ile872Phe) c.2596A>T (p.Ile866Phe) c.2260A>T (p.Ile754Phe) c.2266A>T (p.Ile756Phe) c.2278A>T (p.Ile760Phe) c.2248A>T (p.Ile750Phe) | |
| 4 | g.159341644T>A | CA358591164 | RAPGEF2 | c.2132T>A (p.Ile711Asn) c.2615T>A (p.Ile872Asn) c.2597T>A (p.Ile866Asn) c.2261T>A (p.Ile754Asn) c.2267T>A (p.Ile756Asn) c.2279T>A (p.Ile760Asn) c.2249T>A (p.Ile750Asn) | |
| 4 | g.159341644T>C | CA358591165 | RAPGEF2 | c.2132T>C (p.Ile711Thr) c.2615T>C (p.Ile872Thr) c.2597T>C (p.Ile866Thr) c.2261T>C (p.Ile754Thr) c.2267T>C (p.Ile756Thr) c.2279T>C (p.Ile760Thr) c.2249T>C (p.Ile750Thr) | gnomAD v4 |
| 4 | g.159341644T>G | CA358591166 | RAPGEF2 | c.2132T>G (p.Ile711Ser) c.2615T>G (p.Ile872Ser) c.2597T>G (p.Ile866Ser) c.2261T>G (p.Ile754Ser) c.2267T>G (p.Ile756Ser) c.2279T>G (p.Ile760Ser) c.2249T>G (p.Ile750Ser) | |
| 4 | g.159341645T>A | CA442144693 | RAPGEF2 | c.2133T>A (p.Ile711=) c.2616T>A (p.Ile872=) c.2598T>A (p.Ile866=) c.2262T>A (p.Ile754=) c.2268T>A (p.Ile756=) c.2280T>A (p.Ile760=) c.2250T>A (p.Ile750=) | |
| 4 | g.159341645T>C | CA442144694 | RAPGEF2 | c.2133T>C (p.Ile711=) c.2616T>C (p.Ile872=) c.2598T>C (p.Ile866=) c.2262T>C (p.Ile754=) c.2268T>C (p.Ile756=) c.2280T>C (p.Ile760=) c.2250T>C (p.Ile750=) | |
| 4 | g.159341645T>G | CA358591167 | RAPGEF2 | c.2133T>G (p.Ile711Met) c.2616T>G (p.Ile872Met) c.2598T>G (p.Ile866Met) c.2262T>G (p.Ile754Met) c.2268T>G (p.Ile756Met) c.2280T>G (p.Ile760Met) c.2250T>G (p.Ile750Met) | |
| 4 | g.159341646T>A | CA358591168 | RAPGEF2 | c.2134T>A (p.Ser712Thr) c.2617T>A (p.Ser873Thr) c.2599T>A (p.Ser867Thr) c.2263T>A (p.Ser755Thr) c.2269T>A (p.Ser757Thr) c.2281T>A (p.Ser761Thr) c.2251T>A (p.Ser751Thr) | |
| 4 | g.159341646T>C | CA358591169 | RAPGEF2 | c.2134T>C (p.Ser712Pro) c.2617T>C (p.Ser873Pro) c.2599T>C (p.Ser867Pro) c.2263T>C (p.Ser755Pro) c.2269T>C (p.Ser757Pro) c.2281T>C (p.Ser761Pro) c.2251T>C (p.Ser751Pro) | |
| 4 | g.159341646T>G | CA358591170 | RAPGEF2 | c.2134T>G (p.Ser712Ala) c.2617T>G (p.Ser873Ala) c.2599T>G (p.Ser867Ala) c.2263T>G (p.Ser755Ala) c.2269T>G (p.Ser757Ala) c.2281T>G (p.Ser761Ala) c.2251T>G (p.Ser751Ala) | dbSNP |
| 4 | g.159341646T= | CA1507167713 | RAPGEF2 | c.2134T= (p.Ser712=) c.2617T= (p.Ser873=) c.2599T= (p.Ser867=) c.2263T= (p.Ser755=) c.2269T= (p.Ser757=) c.2281T= (p.Ser761=) c.2251T= (p.Ser751=) | |
| 4 | g.159341647C>A | CA358591171 | RAPGEF2 | c.2135C>A (p.Ser712Tyr) c.2618C>A (p.Ser873Tyr) c.2600C>A (p.Ser867Tyr) c.2264C>A (p.Ser755Tyr) c.2270C>A (p.Ser757Tyr) c.2282C>A (p.Ser761Tyr) c.2252C>A (p.Ser751Tyr) | |
| 4 | g.159341647C>G | CA358591172 | RAPGEF2 | c.2135C>G (p.Ser712Cys) c.2618C>G (p.Ser873Cys) c.2600C>G (p.Ser867Cys) c.2264C>G (p.Ser755Cys) c.2270C>G (p.Ser757Cys) c.2282C>G (p.Ser761Cys) c.2252C>G (p.Ser751Cys) | |
| 4 | g.159341647C>T | CA358591173 | RAPGEF2 | c.2135C>T (p.Ser712Phe) c.2618C>T (p.Ser873Phe) c.2600C>T (p.Ser867Phe) c.2264C>T (p.Ser755Phe) c.2270C>T (p.Ser757Phe) c.2282C>T (p.Ser761Phe) c.2252C>T (p.Ser751Phe) | |
| 4 | g.159341648C>A | CA442144695 | RAPGEF2 | c.2136C>A (p.Ser712=) c.2619C>A (p.Ser873=) c.2601C>A (p.Ser867=) c.2265C>A (p.Ser755=) c.2271C>A (p.Ser757=) c.2283C>A (p.Ser761=) c.2253C>A (p.Ser751=) | |
| 4 | g.159341648C>G | CA442144696 | RAPGEF2 | c.2136C>G (p.Ser712=) c.2619C>G (p.Ser873=) c.2601C>G (p.Ser867=) c.2265C>G (p.Ser755=) c.2271C>G (p.Ser757=) c.2283C>G (p.Ser761=) c.2253C>G (p.Ser751=) | |
| 4 | g.159341648C>T | CA442144697 | RAPGEF2 | c.2136C>T (p.Ser712=) c.2619C>T (p.Ser873=) c.2601C>T (p.Ser867=) c.2265C>T (p.Ser755=) c.2271C>T (p.Ser757=) c.2283C>T (p.Ser761=) c.2253C>T (p.Ser751=) | gnomAD v4 |
| 4 | g.159341649C>A | CA358591174 | RAPGEF2 | c.2137C>A (p.Leu713Ile) c.2620C>A (p.Leu874Ile) c.2602C>A (p.Leu868Ile) c.2266C>A (p.Leu756Ile) c.2272C>A (p.Leu758Ile) c.2284C>A (p.Leu762Ile) c.2254C>A (p.Leu752Ile) | |
| 4 | g.159341649C= | CA1507167714 | RAPGEF2 | c.2137C= (p.Leu713=) c.2620C= (p.Leu874=) c.2602C= (p.Leu868=) c.2266C= (p.Leu756=) c.2272C= (p.Leu758=) c.2284C= (p.Leu762=) c.2254C= (p.Leu752=) | |
| 4 | g.159341649C>G | CA358591175 | RAPGEF2 | c.2137C>G (p.Leu713Val) c.2620C>G (p.Leu874Val) c.2602C>G (p.Leu868Val) c.2266C>G (p.Leu756Val) c.2272C>G (p.Leu758Val) c.2284C>G (p.Leu762Val) c.2254C>G (p.Leu752Val) | |
| 4 | g.159341649C>T | CA3124793 | RAPGEF2 | c.2137C>T (p.Leu713Phe) c.2620C>T (p.Leu874Phe) c.2602C>T (p.Leu868Phe) c.2266C>T (p.Leu756Phe) c.2272C>T (p.Leu758Phe) c.2284C>T (p.Leu762Phe) c.2254C>T (p.Leu752Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341650T>A | CA358591177 | RAPGEF2 | c.2138T>A (p.Leu713His) c.2621T>A (p.Leu874His) c.2603T>A (p.Leu868His) c.2267T>A (p.Leu756His) c.2273T>A (p.Leu758His) c.2285T>A (p.Leu762His) c.2255T>A (p.Leu752His) | |
| 4 | g.159341650T>C | CA358591178 | RAPGEF2 | c.2138T>C (p.Leu713Pro) c.2621T>C (p.Leu874Pro) c.2603T>C (p.Leu868Pro) c.2267T>C (p.Leu756Pro) c.2273T>C (p.Leu758Pro) c.2285T>C (p.Leu762Pro) c.2255T>C (p.Leu752Pro) | |
| 4 | g.159341650T>G | CA358591176 | RAPGEF2 | c.2138T>G (p.Leu713Arg) c.2621T>G (p.Leu874Arg) c.2603T>G (p.Leu868Arg) c.2267T>G (p.Leu756Arg) c.2273T>G (p.Leu758Arg) c.2285T>G (p.Leu762Arg) c.2255T>G (p.Leu752Arg) | |
| 4 | g.159341651C>A | CA442144698 | RAPGEF2 | c.2139C>A (p.Leu713=) c.2622C>A (p.Leu874=) c.2604C>A (p.Leu868=) c.2268C>A (p.Leu756=) c.2274C>A (p.Leu758=) c.2286C>A (p.Leu762=) c.2256C>A (p.Leu752=) | |
| 4 | g.159341651C= | CA1507167715 | RAPGEF2 | c.2139C= (p.Leu713=) c.2622C= (p.Leu874=) c.2604C= (p.Leu868=) c.2268C= (p.Leu756=) c.2274C= (p.Leu758=) c.2286C= (p.Leu762=) c.2256C= (p.Leu752=) | |
| 4 | g.159341651C>G | CA442144699 | RAPGEF2 | c.2139C>G (p.Leu713=) c.2622C>G (p.Leu874=) c.2604C>G (p.Leu868=) c.2268C>G (p.Leu756=) c.2274C>G (p.Leu758=) c.2286C>G (p.Leu762=) c.2256C>G (p.Leu752=) | |
| 4 | g.159341651C>T | CA3124794 | RAPGEF2 | c.2139C>T (p.Leu713=) c.2622C>T (p.Leu874=) c.2604C>T (p.Leu868=) c.2268C>T (p.Leu756=) c.2274C>T (p.Leu758=) c.2286C>T (p.Leu762=) c.2256C>T (p.Leu752=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341652C>A | CA358591179 | RAPGEF2 | c.2140C>A (p.Leu714Ile) c.2623C>A (p.Leu875Ile) c.2605C>A (p.Leu869Ile) c.2269C>A (p.Leu757Ile) c.2275C>A (p.Leu759Ile) c.2287C>A (p.Leu763Ile) c.2257C>A (p.Leu753Ile) | |
| 4 | g.159341652C>G | CA358591180 | RAPGEF2 | c.2140C>G (p.Leu714Val) c.2623C>G (p.Leu875Val) c.2605C>G (p.Leu869Val) c.2269C>G (p.Leu757Val) c.2275C>G (p.Leu759Val) c.2287C>G (p.Leu763Val) c.2257C>G (p.Leu753Val) | |
| 4 | g.159341652C>T | CA358591181 | RAPGEF2 | c.2140C>T (p.Leu714Phe) c.2623C>T (p.Leu875Phe) c.2605C>T (p.Leu869Phe) c.2269C>T (p.Leu757Phe) c.2275C>T (p.Leu759Phe) c.2287C>T (p.Leu763Phe) c.2257C>T (p.Leu753Phe) | |
| 4 | g.159341653_159341655del | CA2672534917 | RAPGEF2 | c.2141_2143del (p.Leu714del) c.2624_2626del (p.Leu875del) c.2606_2608del (p.Leu869del) c.2270_2272del (p.Leu757del) c.2276_2278del (p.Leu759del) c.2288_2290del (p.Leu763del) c.2258_2260del (p.Leu753del) | gnomAD v4 |
| 4 | g.159341653T>A | CA358591182 | RAPGEF2 | c.2141T>A (p.Leu714His) c.2624T>A (p.Leu875His) c.2606T>A (p.Leu869His) c.2270T>A (p.Leu757His) c.2276T>A (p.Leu759His) c.2288T>A (p.Leu763His) c.2258T>A (p.Leu753His) | |
| 4 | g.159341653T>C | CA358591183 | RAPGEF2 | c.2141T>C (p.Leu714Pro) c.2624T>C (p.Leu875Pro) c.2606T>C (p.Leu869Pro) c.2270T>C (p.Leu757Pro) c.2276T>C (p.Leu759Pro) c.2288T>C (p.Leu763Pro) c.2258T>C (p.Leu753Pro) | gnomAD v4 |
| 4 | g.159341653T>G | CA358591184 | RAPGEF2 | c.2141T>G (p.Leu714Arg) c.2624T>G (p.Leu875Arg) c.2606T>G (p.Leu869Arg) c.2270T>G (p.Leu757Arg) c.2276T>G (p.Leu759Arg) c.2288T>G (p.Leu763Arg) c.2258T>G (p.Leu753Arg) | |
| 4 | g.159341654T>A | CA442144701 | RAPGEF2 | c.2142T>A (p.Leu714=) c.2625T>A (p.Leu875=) c.2607T>A (p.Leu869=) c.2271T>A (p.Leu757=) c.2277T>A (p.Leu759=) c.2289T>A (p.Leu763=) c.2259T>A (p.Leu753=) | |
| 4 | g.159341654T>C | CA442144703 | RAPGEF2 | c.2142T>C (p.Leu714=) c.2625T>C (p.Leu875=) c.2607T>C (p.Leu869=) c.2271T>C (p.Leu757=) c.2277T>C (p.Leu759=) c.2289T>C (p.Leu763=) c.2259T>C (p.Leu753=) | |
| 4 | g.159341654T>G | CA442144702 | RAPGEF2 | c.2142T>G (p.Leu714=) c.2625T>G (p.Leu875=) c.2607T>G (p.Leu869=) c.2271T>G (p.Leu757=) c.2277T>G (p.Leu759=) c.2289T>G (p.Leu763=) c.2259T>G (p.Leu753=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.159341655C>A | CA358591185 | RAPGEF2 | c.2143C>A (p.Gln715Lys) c.2626C>A (p.Gln876Lys) c.2608C>A (p.Gln870Lys) c.2272C>A (p.Gln758Lys) c.2278C>A (p.Gln760Lys) c.2290C>A (p.Gln764Lys) c.2260C>A (p.Gln754Lys) | |
| 4 | g.159341655C>G | CA358591186 | RAPGEF2 | c.2143C>G (p.Gln715Glu) c.2626C>G (p.Gln876Glu) c.2608C>G (p.Gln870Glu) c.2272C>G (p.Gln758Glu) c.2278C>G (p.Gln760Glu) c.2290C>G (p.Gln764Glu) c.2260C>G (p.Gln754Glu) | |
| 4 | g.159341655C>T | CA358591187 | RAPGEF2 | c.2143C>T (p.Gln715Ter) c.2626C>T (p.Gln876Ter) c.2608C>T (p.Gln870Ter) c.2272C>T (p.Gln758Ter) c.2278C>T (p.Gln760Ter) c.2290C>T (p.Gln764Ter) c.2260C>T (p.Gln754Ter) | |
| 4 | g.159341656A>C | CA358591188 | RAPGEF2 | c.2144A>C (p.Gln715Pro) c.2627A>C (p.Gln876Pro) c.2609A>C (p.Gln870Pro) c.2273A>C (p.Gln758Pro) c.2279A>C (p.Gln760Pro) c.2291A>C (p.Gln764Pro) c.2261A>C (p.Gln754Pro) | |
| 4 | g.159341656A>G | CA358591189 | RAPGEF2 | c.2144A>G (p.Gln715Arg) c.2627A>G (p.Gln876Arg) c.2609A>G (p.Gln870Arg) c.2273A>G (p.Gln758Arg) c.2279A>G (p.Gln760Arg) c.2291A>G (p.Gln764Arg) c.2261A>G (p.Gln754Arg) | |
| 4 | g.159341656A>T | CA358591190 | RAPGEF2 | c.2144A>T (p.Gln715Leu) c.2627A>T (p.Gln876Leu) c.2609A>T (p.Gln870Leu) c.2273A>T (p.Gln758Leu) c.2279A>T (p.Gln760Leu) c.2291A>T (p.Gln764Leu) c.2261A>T (p.Gln754Leu) | |
| 4 | g.159341657G>A | CA442144704 | RAPGEF2 | c.2145G>A (p.Gln715=) c.2628G>A (p.Gln876=) c.2610G>A (p.Gln870=) c.2274G>A (p.Gln758=) c.2280G>A (p.Gln760=) c.2292G>A (p.Gln764=) c.2262G>A (p.Gln754=) | gnomAD v4 |
| 4 | g.159341657G>C | CA358591191 | RAPGEF2 | c.2145G>C (p.Gln715His) c.2628G>C (p.Gln876His) c.2610G>C (p.Gln870His) c.2274G>C (p.Gln758His) c.2280G>C (p.Gln760His) c.2292G>C (p.Gln764His) c.2262G>C (p.Gln754His) | |
| 4 | g.159341657G>T | CA358591192 | RAPGEF2 | c.2145G>T (p.Gln715His) c.2628G>T (p.Gln876His) c.2610G>T (p.Gln870His) c.2274G>T (p.Gln758His) c.2280G>T (p.Gln760His) c.2292G>T (p.Gln764His) c.2262G>T (p.Gln754His) | |
| 4 | g.159341658C>A | CA358591193 | RAPGEF2 | c.2146C>A (p.Leu716Ile) c.2629C>A (p.Leu877Ile) c.2611C>A (p.Leu871Ile) c.2275C>A (p.Leu759Ile) c.2281C>A (p.Leu761Ile) c.2293C>A (p.Leu765Ile) c.2263C>A (p.Leu755Ile) | |
| 4 | g.159341658C>G | CA358591194 | RAPGEF2 | c.2146C>G (p.Leu716Val) c.2629C>G (p.Leu877Val) c.2611C>G (p.Leu871Val) c.2275C>G (p.Leu759Val) c.2281C>G (p.Leu761Val) c.2293C>G (p.Leu765Val) c.2263C>G (p.Leu755Val) | |
| 4 | g.159341658C>T | CA358591195 | RAPGEF2 | c.2146C>T (p.Leu716Phe) c.2629C>T (p.Leu877Phe) c.2611C>T (p.Leu871Phe) c.2275C>T (p.Leu759Phe) c.2281C>T (p.Leu761Phe) c.2293C>T (p.Leu765Phe) c.2263C>T (p.Leu755Phe) | |
| 4 | g.159341659T>A | CA358591196 | RAPGEF2 | c.2147T>A (p.Leu716His) c.2630T>A (p.Leu877His) c.2612T>A (p.Leu871His) c.2276T>A (p.Leu759His) c.2282T>A (p.Leu761His) c.2294T>A (p.Leu765His) c.2264T>A (p.Leu755His) | |
| 4 | g.159341659T>C | CA358591197 | RAPGEF2 | c.2147T>C (p.Leu716Pro) c.2630T>C (p.Leu877Pro) c.2612T>C (p.Leu871Pro) c.2276T>C (p.Leu759Pro) c.2282T>C (p.Leu761Pro) c.2294T>C (p.Leu765Pro) c.2264T>C (p.Leu755Pro) | |
| 4 | g.159341659T>G | CA358591198 | RAPGEF2 | c.2147T>G (p.Leu716Arg) c.2630T>G (p.Leu877Arg) c.2612T>G (p.Leu871Arg) c.2276T>G (p.Leu759Arg) c.2282T>G (p.Leu761Arg) c.2294T>G (p.Leu765Arg) c.2264T>G (p.Leu755Arg) | |
| 4 | g.159341660C>A | CA442144705 | RAPGEF2 | c.2148C>A (p.Leu716=) c.2631C>A (p.Leu877=) c.2613C>A (p.Leu871=) c.2277C>A (p.Leu759=) c.2283C>A (p.Leu761=) c.2295C>A (p.Leu765=) c.2265C>A (p.Leu755=) | |
| 4 | g.159341660C= | CA1507167716 | RAPGEF2 | c.2148C= (p.Leu716=) c.2631C= (p.Leu877=) c.2613C= (p.Leu871=) c.2277C= (p.Leu759=) c.2283C= (p.Leu761=) c.2295C= (p.Leu765=) c.2265C= (p.Leu755=) | |
| 4 | g.159341660C>G | CA442144706 | RAPGEF2 | c.2148C>G (p.Leu716=) c.2631C>G (p.Leu877=) c.2613C>G (p.Leu871=) c.2277C>G (p.Leu759=) c.2283C>G (p.Leu761=) c.2295C>G (p.Leu765=) c.2265C>G (p.Leu755=) | gnomAD v4 |
| 4 | g.159341660C>T | CA3124795 | RAPGEF2 | c.2148C>T (p.Leu716=) c.2631C>T (p.Leu877=) c.2613C>T (p.Leu871=) c.2277C>T (p.Leu759=) c.2283C>T (p.Leu761=) c.2295C>T (p.Leu765=) c.2265C>T (p.Leu755=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341661A= | CA1507167717 | RAPGEF2 | c.2149A= (p.Ser717=) c.2632A= (p.Ser878=) c.2614A= (p.Ser872=) c.2278A= (p.Ser760=) c.2284A= (p.Ser762=) c.2296A= (p.Ser766=) c.2266A= (p.Ser756=) | |
| 4 | g.159341661A>C | CA358591199 | RAPGEF2 | c.2149A>C (p.Ser717Arg) c.2632A>C (p.Ser878Arg) c.2614A>C (p.Ser872Arg) c.2278A>C (p.Ser760Arg) c.2284A>C (p.Ser762Arg) c.2296A>C (p.Ser766Arg) c.2266A>C (p.Ser756Arg) | |
| 4 | g.159341661A>G | CA358591200 | RAPGEF2 | c.2149A>G (p.Ser717Gly) c.2632A>G (p.Ser878Gly) c.2614A>G (p.Ser872Gly) c.2278A>G (p.Ser760Gly) c.2284A>G (p.Ser762Gly) c.2296A>G (p.Ser766Gly) c.2266A>G (p.Ser756Gly) | dbSNP |
| 4 | g.159341661A>T | CA358591201 | RAPGEF2 | c.2149A>T (p.Ser717Cys) c.2632A>T (p.Ser878Cys) c.2614A>T (p.Ser872Cys) c.2278A>T (p.Ser760Cys) c.2284A>T (p.Ser762Cys) c.2296A>T (p.Ser766Cys) c.2266A>T (p.Ser756Cys) | COSMIC |
| 4 | g.159341662G>A | CA358591204 | RAPGEF2 | c.2150G>A (p.Ser717Asn) c.2633G>A (p.Ser878Asn) c.2615G>A (p.Ser872Asn) c.2279G>A (p.Ser760Asn) c.2285G>A (p.Ser762Asn) c.2297G>A (p.Ser766Asn) c.2267G>A (p.Ser756Asn) | gnomAD v4 |
| 4 | g.159341662G>C | CA358591203 | RAPGEF2 | c.2150G>C (p.Ser717Thr) c.2633G>C (p.Ser878Thr) c.2615G>C (p.Ser872Thr) c.2279G>C (p.Ser760Thr) c.2285G>C (p.Ser762Thr) c.2297G>C (p.Ser766Thr) c.2267G>C (p.Ser756Thr) | |
| 4 | g.159341662G>T | CA358591202 | RAPGEF2 | c.2150G>T (p.Ser717Ile) c.2633G>T (p.Ser878Ile) c.2615G>T (p.Ser872Ile) c.2279G>T (p.Ser760Ile) c.2285G>T (p.Ser762Ile) c.2297G>T (p.Ser766Ile) c.2267G>T (p.Ser756Ile) | gnomAD v4 |
| 4 | g.159341663C>A | CA358591205 | RAPGEF2 | c.2151C>A (p.Ser717Arg) c.2634C>A (p.Ser878Arg) c.2616C>A (p.Ser872Arg) c.2280C>A (p.Ser760Arg) c.2286C>A (p.Ser762Arg) c.2298C>A (p.Ser766Arg) c.2268C>A (p.Ser756Arg) | |
| 4 | g.159341663C>G | CA358591206 | RAPGEF2 | c.2151C>G (p.Ser717Arg) c.2634C>G (p.Ser878Arg) c.2616C>G (p.Ser872Arg) c.2280C>G (p.Ser760Arg) c.2286C>G (p.Ser762Arg) c.2298C>G (p.Ser766Arg) c.2268C>G (p.Ser756Arg) | |
| 4 | g.159341663C>T | CA442144707 | RAPGEF2 | c.2151C>T (p.Ser717=) c.2634C>T (p.Ser878=) c.2616C>T (p.Ser872=) c.2280C>T (p.Ser760=) c.2286C>T (p.Ser762=) c.2298C>T (p.Ser766=) c.2268C>T (p.Ser756=) | gnomAD v4 |
| 4 | g.159341664A>C | CA358591207 | RAPGEF2 | c.2152A>C (p.Thr718Pro) c.2635A>C (p.Thr879Pro) c.2617A>C (p.Thr873Pro) c.2281A>C (p.Thr761Pro) c.2287A>C (p.Thr763Pro) c.2299A>C (p.Thr767Pro) c.2269A>C (p.Thr757Pro) | |
| 4 | g.159341664A>G | CA358591208 | RAPGEF2 | c.2152A>G (p.Thr718Ala) c.2635A>G (p.Thr879Ala) c.2617A>G (p.Thr873Ala) c.2281A>G (p.Thr761Ala) c.2287A>G (p.Thr763Ala) c.2299A>G (p.Thr767Ala) c.2269A>G (p.Thr757Ala) | gnomAD v4 |
| 4 | g.159341664A>T | CA358591209 | RAPGEF2 | c.2152A>T (p.Thr718Ser) c.2635A>T (p.Thr879Ser) c.2617A>T (p.Thr873Ser) c.2281A>T (p.Thr761Ser) c.2287A>T (p.Thr763Ser) c.2299A>T (p.Thr767Ser) c.2269A>T (p.Thr757Ser) | |
| 4 | g.159341665C>A | CA358591210 | RAPGEF2 | c.2153C>A (p.Thr718Asn) c.2636C>A (p.Thr879Asn) c.2618C>A (p.Thr873Asn) c.2282C>A (p.Thr761Asn) c.2288C>A (p.Thr763Asn) c.2300C>A (p.Thr767Asn) c.2270C>A (p.Thr757Asn) | |
| 4 | g.159341665C>G | CA358591211 | RAPGEF2 | c.2153C>G (p.Thr718Ser) c.2636C>G (p.Thr879Ser) c.2618C>G (p.Thr873Ser) c.2282C>G (p.Thr761Ser) c.2288C>G (p.Thr763Ser) c.2300C>G (p.Thr767Ser) c.2270C>G (p.Thr757Ser) | |
| 4 | g.159341665C>T | CA358591212 | RAPGEF2 | c.2153C>T (p.Thr718Ile) c.2636C>T (p.Thr879Ile) c.2618C>T (p.Thr873Ile) c.2282C>T (p.Thr761Ile) c.2288C>T (p.Thr763Ile) c.2300C>T (p.Thr767Ile) c.2270C>T (p.Thr757Ile) | |
| 4 | g.159341666T>A | CA442144708 | RAPGEF2 | c.2154T>A (p.Thr718=) c.2637T>A (p.Thr879=) c.2619T>A (p.Thr873=) c.2283T>A (p.Thr761=) c.2289T>A (p.Thr763=) c.2301T>A (p.Thr767=) c.2271T>A (p.Thr757=) | |
| 4 | g.159341666T>C | CA442144709 | RAPGEF2 | c.2154T>C (p.Thr718=) c.2637T>C (p.Thr879=) c.2619T>C (p.Thr873=) c.2283T>C (p.Thr761=) c.2289T>C (p.Thr763=) c.2301T>C (p.Thr767=) c.2271T>C (p.Thr757=) | |
| 4 | g.159341666T>G | CA442144710 | RAPGEF2 | c.2154T>G (p.Thr718=) c.2637T>G (p.Thr879=) c.2619T>G (p.Thr873=) c.2283T>G (p.Thr761=) c.2289T>G (p.Thr763=) c.2301T>G (p.Thr767=) c.2271T>G (p.Thr757=) | |
| 4 | g.159341667G>A | CA3124796 | RAPGEF2 | c.2155G>A (p.Val719Met) c.2638G>A (p.Val880Met) c.2620G>A (p.Val874Met) c.2284G>A (p.Val762Met) c.2290G>A (p.Val764Met) c.2302G>A (p.Val768Met) c.2272G>A (p.Val758Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341667G>C | CA358591213 | RAPGEF2 | c.2155G>C (p.Val719Leu) c.2638G>C (p.Val880Leu) c.2620G>C (p.Val874Leu) c.2284G>C (p.Val762Leu) c.2290G>C (p.Val764Leu) c.2302G>C (p.Val768Leu) c.2272G>C (p.Val758Leu) | |
| 4 | g.159341667G= | CA1507167718 | RAPGEF2 | c.2155G= (p.Val719=) c.2638G= (p.Val880=) c.2620G= (p.Val874=) c.2284G= (p.Val762=) c.2290G= (p.Val764=) c.2302G= (p.Val768=) c.2272G= (p.Val758=) | |
| 4 | g.159341667G>T | CA358591214 | RAPGEF2 | c.2155G>T (p.Val719Leu) c.2638G>T (p.Val880Leu) c.2620G>T (p.Val874Leu) c.2284G>T (p.Val762Leu) c.2290G>T (p.Val764Leu) c.2302G>T (p.Val768Leu) c.2272G>T (p.Val758Leu) | |
| 4 | g.159341668T>A | CA358591215 | RAPGEF2 | c.2156T>A (p.Val719Glu) c.2639T>A (p.Val880Glu) c.2621T>A (p.Val874Glu) c.2285T>A (p.Val762Glu) c.2291T>A (p.Val764Glu) c.2303T>A (p.Val768Glu) c.2273T>A (p.Val758Glu) | |
| 4 | g.159341668T>C | CA358591216 | RAPGEF2 | c.2156T>C (p.Val719Ala) c.2639T>C (p.Val880Ala) c.2621T>C (p.Val874Ala) c.2285T>C (p.Val762Ala) c.2291T>C (p.Val764Ala) c.2303T>C (p.Val768Ala) c.2273T>C (p.Val758Ala) | |
| 4 | g.159341668T>G | CA358591217 | RAPGEF2 | c.2156T>G (p.Val719Gly) c.2639T>G (p.Val880Gly) c.2621T>G (p.Val874Gly) c.2285T>G (p.Val762Gly) c.2291T>G (p.Val764Gly) c.2303T>G (p.Val768Gly) c.2273T>G (p.Val758Gly) | |
| 4 | g.159341669G>A | CA442144711 | RAPGEF2 | c.2157G>A (p.Val719=) c.2640G>A (p.Val880=) c.2622G>A (p.Val874=) c.2286G>A (p.Val762=) c.2292G>A (p.Val764=) c.2304G>A (p.Val768=) c.2274G>A (p.Val758=) | |
| 4 | g.159341669G>C | CA442144712 | RAPGEF2 | c.2157G>C (p.Val719=) c.2640G>C (p.Val880=) c.2622G>C (p.Val874=) c.2286G>C (p.Val762=) c.2292G>C (p.Val764=) c.2304G>C (p.Val768=) c.2274G>C (p.Val758=) | |
| 4 | g.159341669G>T | CA442144713 | RAPGEF2 | c.2157G>T (p.Val719=) c.2640G>T (p.Val880=) c.2622G>T (p.Val874=) c.2286G>T (p.Val762=) c.2292G>T (p.Val764=) c.2304G>T (p.Val768=) c.2274G>T (p.Val758=) | |
| 4 | g.159341670G>A | CA358591220 | RAPGEF2 | c.2158G>A (p.Glu720Lys) c.2641G>A (p.Glu881Lys) c.2623G>A (p.Glu875Lys) c.2287G>A (p.Glu763Lys) c.2293G>A (p.Glu765Lys) c.2305G>A (p.Glu769Lys) c.2275G>A (p.Glu759Lys) | dbSNP |
| 4 | g.159341670G>C | CA358591218 | RAPGEF2 | c.2158G>C (p.Glu720Gln) c.2641G>C (p.Glu881Gln) c.2623G>C (p.Glu875Gln) c.2287G>C (p.Glu763Gln) c.2293G>C (p.Glu765Gln) c.2305G>C (p.Glu769Gln) c.2275G>C (p.Glu759Gln) | gnomAD v4 |
| 4 | g.159341670G= | CA1507167719 | RAPGEF2 | c.2158G= (p.Glu720=) c.2641G= (p.Glu881=) c.2623G= (p.Glu875=) c.2287G= (p.Glu763=) c.2293G= (p.Glu765=) c.2305G= (p.Glu769=) c.2275G= (p.Glu759=) | |
| 4 | g.159341670G>T | CA358591219 | RAPGEF2 | c.2158G>T (p.Glu720Ter) c.2641G>T (p.Glu881Ter) c.2623G>T (p.Glu875Ter) c.2287G>T (p.Glu763Ter) c.2293G>T (p.Glu765Ter) c.2305G>T (p.Glu769Ter) c.2275G>T (p.Glu759Ter) | |
| 4 | g.159341671A>C | CA358591221 | RAPGEF2 | c.2159A>C (p.Glu720Ala) c.2642A>C (p.Glu881Ala) c.2624A>C (p.Glu875Ala) c.2288A>C (p.Glu763Ala) c.2294A>C (p.Glu765Ala) c.2306A>C (p.Glu769Ala) c.2276A>C (p.Glu759Ala) | |
| 4 | g.159341671A>G | CA358591222 | RAPGEF2 | c.2159A>G (p.Glu720Gly) c.2642A>G (p.Glu881Gly) c.2624A>G (p.Glu875Gly) c.2288A>G (p.Glu763Gly) c.2294A>G (p.Glu765Gly) c.2306A>G (p.Glu769Gly) c.2276A>G (p.Glu759Gly) | |
| 4 | g.159341671A>T | CA358591223 | RAPGEF2 | c.2159A>T (p.Glu720Val) c.2642A>T (p.Glu881Val) c.2624A>T (p.Glu875Val) c.2288A>T (p.Glu763Val) c.2294A>T (p.Glu765Val) c.2306A>T (p.Glu769Val) c.2276A>T (p.Glu759Val) | |
| 4 | g.159341672A>C | CA358591224 | RAPGEF2 | c.2160A>C (p.Glu720Asp) c.2643A>C (p.Glu881Asp) c.2625A>C (p.Glu875Asp) c.2289A>C (p.Glu763Asp) c.2295A>C (p.Glu765Asp) c.2307A>C (p.Glu769Asp) c.2277A>C (p.Glu759Asp) | |
| 4 | g.159341672A>G | CA442144714 | RAPGEF2 | c.2160A>G (p.Glu720=) c.2643A>G (p.Glu881=) c.2625A>G (p.Glu875=) c.2289A>G (p.Glu763=) c.2295A>G (p.Glu765=) c.2307A>G (p.Glu769=) c.2277A>G (p.Glu759=) | |
| 4 | g.159341672A>T | CA358591225 | RAPGEF2 | c.2160A>T (p.Glu720Asp) c.2643A>T (p.Glu881Asp) c.2625A>T (p.Glu875Asp) c.2289A>T (p.Glu763Asp) c.2295A>T (p.Glu765Asp) c.2307A>T (p.Glu769Asp) c.2277A>T (p.Glu759Asp) | |
| 4 | g.159341673G>A | CA358591226 | RAPGEF2 | c.2161G>A (p.Val721Ile) c.2644G>A (p.Val882Ile) c.2626G>A (p.Val876Ile) c.2290G>A (p.Val764Ile) c.2296G>A (p.Val766Ile) c.2308G>A (p.Val770Ile) c.2278G>A (p.Val760Ile) | dbSNP |
| 4 | g.159341673G>C | CA358591227 | RAPGEF2 | c.2161G>C (p.Val721Leu) c.2644G>C (p.Val882Leu) c.2626G>C (p.Val876Leu) c.2290G>C (p.Val764Leu) c.2296G>C (p.Val766Leu) c.2308G>C (p.Val770Leu) c.2278G>C (p.Val760Leu) | |
| 4 | g.159341673G>T | CA358591228 | RAPGEF2 | c.2161G>T (p.Val721Phe) c.2644G>T (p.Val882Phe) c.2626G>T (p.Val876Phe) c.2290G>T (p.Val764Phe) c.2296G>T (p.Val766Phe) c.2308G>T (p.Val770Phe) c.2278G>T (p.Val760Phe) | |
| 4 | g.159341674T>A | CA358591229 | RAPGEF2 | c.2162T>A (p.Val721Asp) c.2645T>A (p.Val882Asp) c.2627T>A (p.Val876Asp) c.2291T>A (p.Val764Asp) c.2297T>A (p.Val766Asp) c.2309T>A (p.Val770Asp) c.2279T>A (p.Val760Asp) | |
| 4 | g.159341674T>C | CA358591230 | RAPGEF2 | c.2162T>C (p.Val721Ala) c.2645T>C (p.Val882Ala) c.2627T>C (p.Val876Ala) c.2291T>C (p.Val764Ala) c.2297T>C (p.Val766Ala) c.2309T>C (p.Val770Ala) c.2279T>C (p.Val760Ala) | dbSNP |
| 4 | g.159341674T>G | CA358591231 | RAPGEF2 | c.2162T>G (p.Val721Gly) c.2645T>G (p.Val882Gly) c.2627T>G (p.Val876Gly) c.2291T>G (p.Val764Gly) c.2297T>G (p.Val766Gly) c.2309T>G (p.Val770Gly) c.2279T>G (p.Val760Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341674T= | CA1507167720 | RAPGEF2 | c.2162T= (p.Val721=) c.2645T= (p.Val882=) c.2627T= (p.Val876=) c.2291T= (p.Val764=) c.2297T= (p.Val766=) c.2309T= (p.Val770=) c.2279T= (p.Val760=) | |
| 4 | g.159341675T>A | CA442144715 | RAPGEF2 | c.2163T>A (p.Val721=) c.2646T>A (p.Val882=) c.2628T>A (p.Val876=) c.2292T>A (p.Val764=) c.2298T>A (p.Val766=) c.2310T>A (p.Val770=) c.2280T>A (p.Val760=) | |
| 4 | g.159341675T>C | CA442144716 | RAPGEF2 | c.2163T>C (p.Val721=) c.2646T>C (p.Val882=) c.2628T>C (p.Val876=) c.2292T>C (p.Val764=) c.2298T>C (p.Val766=) c.2310T>C (p.Val770=) c.2280T>C (p.Val760=) | |
| 4 | g.159341675T>G | CA442144717 | RAPGEF2 | c.2163T>G (p.Val721=) c.2646T>G (p.Val882=) c.2628T>G (p.Val876=) c.2292T>G (p.Val764=) c.2298T>G (p.Val766=) c.2310T>G (p.Val770=) c.2280T>G (p.Val760=) | |
| 4 | g.159341676G>A | CA358591233 | RAPGEF2 | c.2164G>A (p.Ala722Thr) c.2647G>A (p.Ala883Thr) c.2629G>A (p.Ala877Thr) c.2293G>A (p.Ala765Thr) c.2299G>A (p.Ala767Thr) c.2311G>A (p.Ala771Thr) c.2281G>A (p.Ala761Thr) | |
| 4 | g.159341676G>C | CA358591234 | RAPGEF2 | c.2164G>C (p.Ala722Pro) c.2647G>C (p.Ala883Pro) c.2629G>C (p.Ala877Pro) c.2293G>C (p.Ala765Pro) c.2299G>C (p.Ala767Pro) c.2311G>C (p.Ala771Pro) c.2281G>C (p.Ala761Pro) | |
| 4 | g.159341676G>T | CA358591232 | RAPGEF2 | c.2164G>T (p.Ala722Ser) c.2647G>T (p.Ala883Ser) c.2629G>T (p.Ala877Ser) c.2293G>T (p.Ala765Ser) c.2299G>T (p.Ala767Ser) c.2311G>T (p.Ala771Ser) c.2281G>T (p.Ala761Ser) | |
| 4 | g.159341677C>A | CA358591235 | RAPGEF2 | c.2165C>A (p.Ala722Glu) c.2648C>A (p.Ala883Glu) c.2630C>A (p.Ala877Glu) c.2294C>A (p.Ala765Glu) c.2300C>A (p.Ala767Glu) c.2312C>A (p.Ala771Glu) c.2282C>A (p.Ala761Glu) | |
| 4 | g.159341677C= | CA1507167721 | RAPGEF2 | c.2165C= (p.Ala722=) c.2648C= (p.Ala883=) c.2630C= (p.Ala877=) c.2294C= (p.Ala765=) c.2300C= (p.Ala767=) c.2312C= (p.Ala771=) c.2282C= (p.Ala761=) | |
| 4 | g.159341677C>G | CA358591236 | RAPGEF2 | c.2165C>G (p.Ala722Gly) c.2648C>G (p.Ala883Gly) c.2630C>G (p.Ala877Gly) c.2294C>G (p.Ala765Gly) c.2300C>G (p.Ala767Gly) c.2312C>G (p.Ala771Gly) c.2282C>G (p.Ala761Gly) | dbSNP |
| 4 | g.159341677C>T | CA3124797 | RAPGEF2 | c.2165C>T (p.Ala722Val) c.2648C>T (p.Ala883Val) c.2630C>T (p.Ala877Val) c.2294C>T (p.Ala765Val) c.2300C>T (p.Ala767Val) c.2312C>T (p.Ala771Val) c.2282C>T (p.Ala761Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341678A>C | CA442144718 | RAPGEF2 | c.2166A>C (p.Ala722=) c.2649A>C (p.Ala883=) c.2631A>C (p.Ala877=) c.2295A>C (p.Ala765=) c.2301A>C (p.Ala767=) c.2313A>C (p.Ala771=) c.2283A>C (p.Ala761=) | |
| 4 | g.159341678A>G | CA442144719 | RAPGEF2 | c.2166A>G (p.Ala722=) c.2649A>G (p.Ala883=) c.2631A>G (p.Ala877=) c.2295A>G (p.Ala765=) c.2301A>G (p.Ala767=) c.2313A>G (p.Ala771=) c.2283A>G (p.Ala761=) | |
| 4 | g.159341678A>T | CA442144720 | RAPGEF2 | c.2166A>T (p.Ala722=) c.2649A>T (p.Ala883=) c.2631A>T (p.Ala877=) c.2295A>T (p.Ala765=) c.2301A>T (p.Ala767=) c.2313A>T (p.Ala771=) c.2283A>T (p.Ala761=) | |
| 4 | g.159341679A>C | CA358591237 | RAPGEF2 | c.2167A>C (p.Thr723Pro) c.2650A>C (p.Thr884Pro) c.2632A>C (p.Thr878Pro) c.2296A>C (p.Thr766Pro) c.2302A>C (p.Thr768Pro) c.2314A>C (p.Thr772Pro) c.2284A>C (p.Thr762Pro) | |
| 4 | g.159341679A>G | CA358591238 | RAPGEF2 | c.2167A>G (p.Thr723Ala) c.2650A>G (p.Thr884Ala) c.2632A>G (p.Thr878Ala) c.2296A>G (p.Thr766Ala) c.2302A>G (p.Thr768Ala) c.2314A>G (p.Thr772Ala) c.2284A>G (p.Thr762Ala) | gnomAD v4 |
| 4 | g.159341679A>T | CA358591239 | RAPGEF2 | c.2167A>T (p.Thr723Ser) c.2650A>T (p.Thr884Ser) c.2632A>T (p.Thr878Ser) c.2296A>T (p.Thr766Ser) c.2302A>T (p.Thr768Ser) c.2314A>T (p.Thr772Ser) c.2284A>T (p.Thr762Ser) | |
| 4 | g.159341680C>A | CA358591240 | RAPGEF2 | c.2168C>A (p.Thr723Lys) c.2651C>A (p.Thr884Lys) c.2633C>A (p.Thr878Lys) c.2297C>A (p.Thr766Lys) c.2303C>A (p.Thr768Lys) c.2315C>A (p.Thr772Lys) c.2285C>A (p.Thr762Lys) | |
| 4 | g.159341680C= | CA1507167722 | RAPGEF2 | c.2168C= (p.Thr723=) c.2651C= (p.Thr884=) c.2633C= (p.Thr878=) c.2297C= (p.Thr766=) c.2303C= (p.Thr768=) c.2315C= (p.Thr772=) c.2285C= (p.Thr762=) | |
| 4 | g.159341680C>G | CA358591241 | RAPGEF2 | c.2168C>G (p.Thr723Arg) c.2651C>G (p.Thr884Arg) c.2633C>G (p.Thr878Arg) c.2297C>G (p.Thr766Arg) c.2303C>G (p.Thr768Arg) c.2315C>G (p.Thr772Arg) c.2285C>G (p.Thr762Arg) | |
| 4 | g.159341680C>T | CA108901852 | RAPGEF2 | c.2168C>T (p.Thr723Ile) c.2651C>T (p.Thr884Ile) c.2633C>T (p.Thr878Ile) c.2297C>T (p.Thr766Ile) c.2303C>T (p.Thr768Ile) c.2315C>T (p.Thr772Ile) c.2285C>T (p.Thr762Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341681A>C | CA442144723 | RAPGEF2 | c.2169A>C (p.Thr723=) c.2652A>C (p.Thr884=) c.2634A>C (p.Thr878=) c.2298A>C (p.Thr766=) c.2304A>C (p.Thr768=) c.2316A>C (p.Thr772=) c.2286A>C (p.Thr762=) | |
| 4 | g.159341681A>G | CA442144722 | RAPGEF2 | c.2169A>G (p.Thr723=) c.2652A>G (p.Thr884=) c.2634A>G (p.Thr878=) c.2298A>G (p.Thr766=) c.2304A>G (p.Thr768=) c.2316A>G (p.Thr772=) c.2286A>G (p.Thr762=) | |
| 4 | g.159341681A>T | CA442144721 | RAPGEF2 | c.2169A>T (p.Thr723=) c.2652A>T (p.Thr884=) c.2634A>T (p.Thr878=) c.2298A>T (p.Thr766=) c.2304A>T (p.Thr768=) c.2316A>T (p.Thr772=) c.2286A>T (p.Thr762=) | |
| 4 | g.159341682C>A | CA358591242 | RAPGEF2 | c.2170C>A (p.Gln724Lys) c.2653C>A (p.Gln885Lys) c.2635C>A (p.Gln879Lys) c.2299C>A (p.Gln767Lys) c.2305C>A (p.Gln769Lys) c.2317C>A (p.Gln773Lys) c.2287C>A (p.Gln763Lys) | dbSNP |
| 4 | g.159341682C= | CA1507167723 | RAPGEF2 | c.2170C= (p.Gln724=) c.2653C= (p.Gln885=) c.2635C= (p.Gln879=) c.2299C= (p.Gln767=) c.2305C= (p.Gln769=) c.2317C= (p.Gln773=) c.2287C= (p.Gln763=) | |
| 4 | g.159341682C>G | CA358591243 | RAPGEF2 | c.2170C>G (p.Gln724Glu) c.2653C>G (p.Gln885Glu) c.2635C>G (p.Gln879Glu) c.2299C>G (p.Gln767Glu) c.2305C>G (p.Gln769Glu) c.2317C>G (p.Gln773Glu) c.2287C>G (p.Gln763Glu) | dbSNP |
| 4 | g.159341682C>T | CA358591244 | RAPGEF2 | c.2170C>T (p.Gln724Ter) c.2653C>T (p.Gln885Ter) c.2635C>T (p.Gln879Ter) c.2299C>T (p.Gln767Ter) c.2305C>T (p.Gln769Ter) c.2317C>T (p.Gln773Ter) c.2287C>T (p.Gln763Ter) | |
| 4 | g.159341683A>C | CA358591246 | RAPGEF2 | c.2171A>C (p.Gln724Pro) c.2654A>C (p.Gln885Pro) c.2636A>C (p.Gln879Pro) c.2300A>C (p.Gln767Pro) c.2306A>C (p.Gln769Pro) c.2318A>C (p.Gln773Pro) c.2288A>C (p.Gln763Pro) | |
| 4 | g.159341683A>G | CA358591247 | RAPGEF2 | c.2171A>G (p.Gln724Arg) c.2654A>G (p.Gln885Arg) c.2636A>G (p.Gln879Arg) c.2300A>G (p.Gln767Arg) c.2306A>G (p.Gln769Arg) c.2318A>G (p.Gln773Arg) c.2288A>G (p.Gln763Arg) | |
| 4 | g.159341683A>T | CA358591245 | RAPGEF2 | c.2171A>T (p.Gln724Leu) c.2654A>T (p.Gln885Leu) c.2636A>T (p.Gln879Leu) c.2300A>T (p.Gln767Leu) c.2306A>T (p.Gln769Leu) c.2318A>T (p.Gln773Leu) c.2288A>T (p.Gln763Leu) | |
| 4 | g.159341684G>A | CA442144724 | RAPGEF2 | c.2172G>A (p.Gln724=) c.2655G>A (p.Gln885=) c.2637G>A (p.Gln879=) c.2301G>A (p.Gln767=) c.2307G>A (p.Gln769=) c.2319G>A (p.Gln773=) c.2289G>A (p.Gln763=) | |
| 4 | g.159341684G>C | CA358591248 | RAPGEF2 | c.2172G>C (p.Gln724His) c.2655G>C (p.Gln885His) c.2637G>C (p.Gln879His) c.2301G>C (p.Gln767His) c.2307G>C (p.Gln769His) c.2319G>C (p.Gln773His) c.2289G>C (p.Gln763His) | |
| 4 | g.159341684G>T | CA358591249 | RAPGEF2 | c.2172G>T (p.Gln724His) c.2655G>T (p.Gln885His) c.2637G>T (p.Gln879His) c.2301G>T (p.Gln767His) c.2307G>T (p.Gln769His) c.2319G>T (p.Gln773His) c.2289G>T (p.Gln763His) | |
| 4 | g.159341685C>A | CA358591250 | RAPGEF2 | c.2173C>A (p.Leu725Ile) c.2656C>A (p.Leu886Ile) c.2638C>A (p.Leu880Ile) c.2302C>A (p.Leu768Ile) c.2308C>A (p.Leu770Ile) c.2320C>A (p.Leu774Ile) c.2290C>A (p.Leu764Ile) | gnomAD v4 |
| 4 | g.159341685C>G | CA358591251 | RAPGEF2 | c.2173C>G (p.Leu725Val) c.2656C>G (p.Leu886Val) c.2638C>G (p.Leu880Val) c.2302C>G (p.Leu768Val) c.2308C>G (p.Leu770Val) c.2320C>G (p.Leu774Val) c.2290C>G (p.Leu764Val) | |
| 4 | g.159341685C>T | CA358591252 | RAPGEF2 | c.2173C>T (p.Leu725Phe) c.2656C>T (p.Leu886Phe) c.2638C>T (p.Leu880Phe) c.2302C>T (p.Leu768Phe) c.2308C>T (p.Leu770Phe) c.2320C>T (p.Leu774Phe) c.2290C>T (p.Leu764Phe) | |
| 4 | g.159341689_159341690del | CA2578224656 | RAPGEF2 | c.2177_2178del (p.Ser726TyrfsTer5) c.2660_2661del (p.Ser887TyrfsTer5) c.2642_2643del (p.Ser881TyrfsTer5) c.2306_2307del (p.Ser769TyrfsTer5) c.2312_2313del (p.Ser771TyrfsTer5) c.2324_2325del (p.Ser775TyrfsTer5) c.2294_2295del (p.Ser765TyrfsTer5) | |
| 4 | g.159341686T>A | CA358591255 | RAPGEF2 | c.2174T>A (p.Leu725His) c.2657T>A (p.Leu886His) c.2639T>A (p.Leu880His) c.2303T>A (p.Leu768His) c.2309T>A (p.Leu770His) c.2321T>A (p.Leu774His) c.2291T>A (p.Leu764His) | |
| 4 | g.159341686T>C | CA358591253 | RAPGEF2 | c.2174T>C (p.Leu725Pro) c.2657T>C (p.Leu886Pro) c.2639T>C (p.Leu880Pro) c.2303T>C (p.Leu768Pro) c.2309T>C (p.Leu770Pro) c.2321T>C (p.Leu774Pro) c.2291T>C (p.Leu764Pro) | |
| 4 | g.159341686T>G | CA358591254 | RAPGEF2 | c.2174T>G (p.Leu725Arg) c.2657T>G (p.Leu886Arg) c.2639T>G (p.Leu880Arg) c.2303T>G (p.Leu768Arg) c.2309T>G (p.Leu770Arg) c.2321T>G (p.Leu774Arg) c.2291T>G (p.Leu764Arg) | |
| 4 | g.159341687C>A | CA442144725 | RAPGEF2 | c.2175C>A (p.Leu725=) c.2658C>A (p.Leu886=) c.2640C>A (p.Leu880=) c.2304C>A (p.Leu768=) c.2310C>A (p.Leu770=) c.2322C>A (p.Leu774=) c.2292C>A (p.Leu764=) | |
| 4 | g.159341687C>G | CA442144727 | RAPGEF2 | c.2175C>G (p.Leu725=) c.2658C>G (p.Leu886=) c.2640C>G (p.Leu880=) c.2304C>G (p.Leu768=) c.2310C>G (p.Leu770=) c.2322C>G (p.Leu774=) c.2292C>G (p.Leu764=) | |
| 4 | g.159341687C>T | CA442144726 | RAPGEF2 | c.2175C>T (p.Leu725=) c.2658C>T (p.Leu886=) c.2640C>T (p.Leu880=) c.2304C>T (p.Leu768=) c.2310C>T (p.Leu770=) c.2322C>T (p.Leu774=) c.2292C>T (p.Leu764=) | gnomAD v4 |
| 4 | g.159341688T>A | CA358591256 | RAPGEF2 | c.2176T>A (p.Ser726Thr) c.2659T>A (p.Ser887Thr) c.2641T>A (p.Ser881Thr) c.2305T>A (p.Ser769Thr) c.2311T>A (p.Ser771Thr) c.2323T>A (p.Ser775Thr) c.2293T>A (p.Ser765Thr) | |
| 4 | g.159341688T>C | CA358591257 | RAPGEF2 | c.2176T>C (p.Ser726Pro) c.2659T>C (p.Ser887Pro) c.2641T>C (p.Ser881Pro) c.2305T>C (p.Ser769Pro) c.2311T>C (p.Ser771Pro) c.2323T>C (p.Ser775Pro) c.2293T>C (p.Ser765Pro) | |
| 4 | g.159341688T>G | CA358591258 | RAPGEF2 | c.2176T>G (p.Ser726Ala) c.2659T>G (p.Ser887Ala) c.2641T>G (p.Ser881Ala) c.2305T>G (p.Ser769Ala) c.2311T>G (p.Ser771Ala) c.2323T>G (p.Ser775Ala) c.2293T>G (p.Ser765Ala) | |
| 4 | g.159341689C>A | CA358591259 | RAPGEF2 | c.2177C>A (p.Ser726Tyr) c.2660C>A (p.Ser887Tyr) c.2642C>A (p.Ser881Tyr) c.2306C>A (p.Ser769Tyr) c.2312C>A (p.Ser771Tyr) c.2324C>A (p.Ser775Tyr) c.2294C>A (p.Ser765Tyr) | |
| 4 | g.159341689C>G | CA358591260 | RAPGEF2 | c.2177C>G (p.Ser726Cys) c.2660C>G (p.Ser887Cys) c.2642C>G (p.Ser881Cys) c.2306C>G (p.Ser769Cys) c.2312C>G (p.Ser771Cys) c.2324C>G (p.Ser775Cys) c.2294C>G (p.Ser765Cys) | |
| 4 | g.159341689C>T | CA358591261 | RAPGEF2 | c.2177C>T (p.Ser726Phe) c.2660C>T (p.Ser887Phe) c.2642C>T (p.Ser881Phe) c.2306C>T (p.Ser769Phe) c.2312C>T (p.Ser771Phe) c.2324C>T (p.Ser775Phe) c.2294C>T (p.Ser765Phe) | |
| 4 | g.159341690T>A | CA3124798 | RAPGEF2 | c.2178T>A (p.Ser726=) c.2661T>A (p.Ser887=) c.2643T>A (p.Ser881=) c.2307T>A (p.Ser769=) c.2313T>A (p.Ser771=) c.2325T>A (p.Ser775=) c.2295T>A (p.Ser765=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341690T>C | CA442268125 | RAPGEF2 | c.2178T>C (p.Ser726=) c.2661T>C (p.Ser887=) c.2643T>C (p.Ser881=) c.2307T>C (p.Ser769=) c.2313T>C (p.Ser771=) c.2325T>C (p.Ser775=) c.2295T>C (p.Ser765=) | gnomAD v4 |
| 4 | g.159341690T>G | CA442268126 | RAPGEF2 | c.2178T>G (p.Ser726=) c.2661T>G (p.Ser887=) c.2643T>G (p.Ser881=) c.2307T>G (p.Ser769=) c.2313T>G (p.Ser771=) c.2325T>G (p.Ser775=) c.2295T>G (p.Ser765=) | |
| 4 | g.159341690T= | CA1507167724 | RAPGEF2 | c.2178T= (p.Ser726=) c.2661T= (p.Ser887=) c.2643T= (p.Ser881=) c.2307T= (p.Ser769=) c.2313T= (p.Ser771=) c.2325T= (p.Ser775=) c.2295T= (p.Ser765=) | |
| 4 | g.159341691A= | CA1507167725 | RAPGEF2 | c.2179A= (p.Met727=) c.2662A= (p.Met888=) c.2644A= (p.Met882=) c.2308A= (p.Met770=) c.2314A= (p.Met772=) c.2326A= (p.Met776=) c.2296A= (p.Met766=) | |
| 4 | g.159341691A>C | CA108901856 | RAPGEF2 | c.2179A>C (p.Met727Leu) c.2662A>C (p.Met888Leu) c.2644A>C (p.Met882Leu) c.2308A>C (p.Met770Leu) c.2314A>C (p.Met772Leu) c.2326A>C (p.Met776Leu) c.2296A>C (p.Met766Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341691A>G | CA358591262 | RAPGEF2 | c.2179A>G (p.Met727Val) c.2662A>G (p.Met888Val) c.2644A>G (p.Met882Val) c.2308A>G (p.Met770Val) c.2314A>G (p.Met772Val) c.2326A>G (p.Met776Val) c.2296A>G (p.Met766Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341691A>T | CA358591263 | RAPGEF2 | c.2179A>T (p.Met727Leu) c.2662A>T (p.Met888Leu) c.2644A>T (p.Met882Leu) c.2308A>T (p.Met770Leu) c.2314A>T (p.Met772Leu) c.2326A>T (p.Met776Leu) c.2296A>T (p.Met766Leu) | |
| 4 | g.159341692T>A | CA358591264 | RAPGEF2 | c.2180T>A (p.Met727Lys) c.2663T>A (p.Met888Lys) c.2645T>A (p.Met882Lys) c.2309T>A (p.Met770Lys) c.2315T>A (p.Met772Lys) c.2327T>A (p.Met776Lys) c.2297T>A (p.Met766Lys) | |
| 4 | g.159341692T>C | CA108901862 | RAPGEF2 | c.2180T>C (p.Met727Thr) c.2663T>C (p.Met888Thr) c.2645T>C (p.Met882Thr) c.2309T>C (p.Met770Thr) c.2315T>C (p.Met772Thr) c.2327T>C (p.Met776Thr) c.2297T>C (p.Met766Thr) | dbSNP gnomAD v4 |
| 4 | g.159341692T>G | CA358591265 | RAPGEF2 | c.2180T>G (p.Met727Arg) c.2663T>G (p.Met888Arg) c.2645T>G (p.Met882Arg) c.2309T>G (p.Met770Arg) c.2315T>G (p.Met772Arg) c.2327T>G (p.Met776Arg) c.2297T>G (p.Met766Arg) | |
| 4 | g.159341692T= | CA1507167726 | RAPGEF2 | c.2180T= (p.Met727=) c.2663T= (p.Met888=) c.2645T= (p.Met882=) c.2309T= (p.Met770=) c.2315T= (p.Met772=) c.2327T= (p.Met776=) c.2297T= (p.Met766=) | |
| 4 | g.159341693G>A | CA358591266 | RAPGEF2 | c.2181G>A (p.Met727Ile) c.2664G>A (p.Met888Ile) c.2646G>A (p.Met882Ile) c.2310G>A (p.Met770Ile) c.2316G>A (p.Met772Ile) c.2328G>A (p.Met776Ile) c.2298G>A (p.Met766Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341693G>C | CA358591267 | RAPGEF2 | c.2181G>C (p.Met727Ile) c.2664G>C (p.Met888Ile) c.2646G>C (p.Met882Ile) c.2310G>C (p.Met770Ile) c.2316G>C (p.Met772Ile) c.2328G>C (p.Met776Ile) c.2298G>C (p.Met766Ile) | |
| 4 | g.159341693G= | CA1507167727 | RAPGEF2 | c.2181G= (p.Met727=) c.2664G= (p.Met888=) c.2646G= (p.Met882=) c.2310G= (p.Met770=) c.2316G= (p.Met772=) c.2328G= (p.Met776=) c.2298G= (p.Met766=) | |
| 4 | g.159341693G>T | CA358591268 | RAPGEF2 | c.2181G>T (p.Met727Ile) c.2664G>T (p.Met888Ile) c.2646G>T (p.Met882Ile) c.2310G>T (p.Met770Ile) c.2316G>T (p.Met772Ile) c.2328G>T (p.Met776Ile) c.2298G>T (p.Met766Ile) | |
| 4 | g.159341694C>A | CA442268127 | RAPGEF2 | c.2182C>A (p.Arg728=) c.2665C>A (p.Arg889=) c.2647C>A (p.Arg883=) c.2311C>A (p.Arg771=) c.2317C>A (p.Arg773=) c.2329C>A (p.Arg777=) c.2299C>A (p.Arg767=) | |
| 4 | g.159341694C= | CA1507167728 | RAPGEF2 | c.2182C= (p.Arg728=) c.2665C= (p.Arg889=) c.2647C= (p.Arg883=) c.2311C= (p.Arg771=) c.2317C= (p.Arg773=) c.2329C= (p.Arg777=) c.2299C= (p.Arg767=) | |
| 4 | g.159341694C>G | CA3124799 | RAPGEF2 | c.2182C>G (p.Arg728Gly) c.2665C>G (p.Arg889Gly) c.2647C>G (p.Arg883Gly) c.2311C>G (p.Arg771Gly) c.2317C>G (p.Arg773Gly) c.2329C>G (p.Arg777Gly) c.2299C>G (p.Arg767Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341694C>T | CA358591269 | RAPGEF2 | c.2182C>T (p.Arg728Ter) c.2665C>T (p.Arg889Ter) c.2647C>T (p.Arg883Ter) c.2311C>T (p.Arg771Ter) c.2317C>T (p.Arg773Ter) c.2329C>T (p.Arg777Ter) c.2299C>T (p.Arg767Ter) | |
| 4 | g.159341695G>A | CA3124800 | RAPGEF2 | c.2183G>A (p.Arg728Gln) c.2666G>A (p.Arg889Gln) c.2648G>A (p.Arg883Gln) c.2312G>A (p.Arg771Gln) c.2318G>A (p.Arg773Gln) c.2330G>A (p.Arg777Gln) c.2300G>A (p.Arg767Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341695G>C | CA358591270 | RAPGEF2 | c.2183G>C (p.Arg728Pro) c.2666G>C (p.Arg889Pro) c.2648G>C (p.Arg883Pro) c.2312G>C (p.Arg771Pro) c.2318G>C (p.Arg773Pro) c.2330G>C (p.Arg777Pro) c.2300G>C (p.Arg767Pro) | |
| 4 | g.159341695G= | CA1507167729 | RAPGEF2 | c.2183G= (p.Arg728=) c.2666G= (p.Arg889=) c.2648G= (p.Arg883=) c.2312G= (p.Arg771=) c.2318G= (p.Arg773=) c.2330G= (p.Arg777=) c.2300G= (p.Arg767=) | |
| 4 | g.159341695G>T | CA358591271 | RAPGEF2 | c.2183G>T (p.Arg728Leu) c.2666G>T (p.Arg889Leu) c.2648G>T (p.Arg883Leu) c.2312G>T (p.Arg771Leu) c.2318G>T (p.Arg773Leu) c.2330G>T (p.Arg777Leu) c.2300G>T (p.Arg767Leu) | |
| 4 | g.159341696A>C | CA442268130 | RAPGEF2 | c.2184A>C (p.Arg728=) c.2667A>C (p.Arg889=) c.2649A>C (p.Arg883=) c.2313A>C (p.Arg771=) c.2319A>C (p.Arg773=) c.2331A>C (p.Arg777=) c.2301A>C (p.Arg767=) | |
| 4 | g.159341696A>G | CA442268129 | RAPGEF2 | c.2184A>G (p.Arg728=) c.2667A>G (p.Arg889=) c.2649A>G (p.Arg883=) c.2313A>G (p.Arg771=) c.2319A>G (p.Arg773=) c.2331A>G (p.Arg777=) c.2301A>G (p.Arg767=) | |
| 4 | g.159341696A>T | CA442268128 | RAPGEF2 | c.2184A>T (p.Arg728=) c.2667A>T (p.Arg889=) c.2649A>T (p.Arg883=) c.2313A>T (p.Arg771=) c.2319A>T (p.Arg773=) c.2331A>T (p.Arg777=) c.2301A>T (p.Arg767=) | |
| 4 | g.159341697A>C | CA358591274 | RAPGEF2 | c.2185A>C (p.Asn729His) c.2668A>C (p.Asn890His) c.2650A>C (p.Asn884His) c.2314A>C (p.Asn772His) c.2320A>C (p.Asn774His) c.2332A>C (p.Asn778His) c.2302A>C (p.Asn768His) | |
| 4 | g.159341697A>G | CA358591273 | RAPGEF2 | c.2185A>G (p.Asn729Asp) c.2668A>G (p.Asn890Asp) c.2650A>G (p.Asn884Asp) c.2314A>G (p.Asn772Asp) c.2320A>G (p.Asn774Asp) c.2332A>G (p.Asn778Asp) c.2302A>G (p.Asn768Asp) | |
| 4 | g.159341697A>T | CA358591272 | RAPGEF2 | c.2185A>T (p.Asn729Tyr) c.2668A>T (p.Asn890Tyr) c.2650A>T (p.Asn884Tyr) c.2314A>T (p.Asn772Tyr) c.2320A>T (p.Asn774Tyr) c.2332A>T (p.Asn778Tyr) c.2302A>T (p.Asn768Tyr) | |
| 4 | g.159341698A>C | CA358591275 | RAPGEF2 | c.2186A>C (p.Asn729Thr) c.2669A>C (p.Asn890Thr) c.2651A>C (p.Asn884Thr) c.2315A>C (p.Asn772Thr) c.2321A>C (p.Asn774Thr) c.2333A>C (p.Asn778Thr) c.2303A>C (p.Asn768Thr) | |
| 4 | g.159341698A>G | CA358591276 | RAPGEF2 | c.2186A>G (p.Asn729Ser) c.2669A>G (p.Asn890Ser) c.2651A>G (p.Asn884Ser) c.2315A>G (p.Asn772Ser) c.2321A>G (p.Asn774Ser) c.2333A>G (p.Asn778Ser) c.2303A>G (p.Asn768Ser) | gnomAD v4 |
| 4 | g.159341698A>T | CA358591277 | RAPGEF2 | c.2186A>T (p.Asn729Ile) c.2669A>T (p.Asn890Ile) c.2651A>T (p.Asn884Ile) c.2315A>T (p.Asn772Ile) c.2321A>T (p.Asn774Ile) c.2333A>T (p.Asn778Ile) c.2303A>T (p.Asn768Ile) | |
| 4 | g.159341699T>A | CA358591278 | RAPGEF2 | c.2187T>A (p.Asn729Lys) c.2670T>A (p.Asn890Lys) c.2652T>A (p.Asn884Lys) c.2316T>A (p.Asn772Lys) c.2322T>A (p.Asn774Lys) c.2334T>A (p.Asn778Lys) c.2304T>A (p.Asn768Lys) | |
| 4 | g.159341699T>C | CA442268131 | RAPGEF2 | c.2187T>C (p.Asn729=) c.2670T>C (p.Asn890=) c.2652T>C (p.Asn884=) c.2316T>C (p.Asn772=) c.2322T>C (p.Asn774=) c.2334T>C (p.Asn778=) c.2304T>C (p.Asn768=) | |
| 4 | g.159341699T>G | CA358591279 | RAPGEF2 | c.2187T>G (p.Asn729Lys) c.2670T>G (p.Asn890Lys) c.2652T>G (p.Asn884Lys) c.2316T>G (p.Asn772Lys) c.2322T>G (p.Asn774Lys) c.2334T>G (p.Asn778Lys) c.2304T>G (p.Asn768Lys) | |
| 4 | g.159341700T>A | CA358591280 | RAPGEF2 | c.2188T>A (p.Phe730Ile) c.2671T>A (p.Phe891Ile) c.2653T>A (p.Phe885Ile) c.2317T>A (p.Phe773Ile) c.2323T>A (p.Phe775Ile) c.2335T>A (p.Phe779Ile) c.2305T>A (p.Phe769Ile) | |
| 4 | g.159341700T>C | CA358591281 | RAPGEF2 | c.2188T>C (p.Phe730Leu) c.2671T>C (p.Phe891Leu) c.2653T>C (p.Phe885Leu) c.2317T>C (p.Phe773Leu) c.2323T>C (p.Phe775Leu) c.2335T>C (p.Phe779Leu) c.2305T>C (p.Phe769Leu) | |
| 4 | g.159341700T>G | CA358591282 | RAPGEF2 | c.2188T>G (p.Phe730Val) c.2671T>G (p.Phe891Val) c.2653T>G (p.Phe885Val) c.2317T>G (p.Phe773Val) c.2323T>G (p.Phe775Val) c.2335T>G (p.Phe779Val) c.2305T>G (p.Phe769Val) | |
| 4 | g.159341701T>A | CA358591283 | RAPGEF2 | c.2189T>A (p.Phe730Tyr) c.2672T>A (p.Phe891Tyr) c.2654T>A (p.Phe885Tyr) c.2318T>A (p.Phe773Tyr) c.2324T>A (p.Phe775Tyr) c.2336T>A (p.Phe779Tyr) c.2306T>A (p.Phe769Tyr) | |
| 4 | g.159341701T>C | CA358591284 | RAPGEF2 | c.2189T>C (p.Phe730Ser) c.2672T>C (p.Phe891Ser) c.2654T>C (p.Phe885Ser) c.2318T>C (p.Phe773Ser) c.2324T>C (p.Phe775Ser) c.2336T>C (p.Phe779Ser) c.2306T>C (p.Phe769Ser) | |
| 4 | g.159341701T>G | CA358591285 | RAPGEF2 | c.2189T>G (p.Phe730Cys) c.2672T>G (p.Phe891Cys) c.2654T>G (p.Phe885Cys) c.2318T>G (p.Phe773Cys) c.2324T>G (p.Phe775Cys) c.2336T>G (p.Phe779Cys) c.2306T>G (p.Phe769Cys) | |
| 4 | g.159341702T>A | CA358591286 | RAPGEF2 | c.2190T>A (p.Phe730Leu) c.2673T>A (p.Phe891Leu) c.2655T>A (p.Phe885Leu) c.2319T>A (p.Phe773Leu) c.2325T>A (p.Phe775Leu) c.2337T>A (p.Phe779Leu) c.2307T>A (p.Phe769Leu) | |
| 4 | g.159341702T>C | CA442268132 | RAPGEF2 | c.2190T>C (p.Phe730=) c.2673T>C (p.Phe891=) c.2655T>C (p.Phe885=) c.2319T>C (p.Phe773=) c.2325T>C (p.Phe775=) c.2337T>C (p.Phe779=) c.2307T>C (p.Phe769=) | |
| 4 | g.159341702T>G | CA358591287 | RAPGEF2 | c.2190T>G (p.Phe730Leu) c.2673T>G (p.Phe891Leu) c.2655T>G (p.Phe885Leu) c.2319T>G (p.Phe773Leu) c.2325T>G (p.Phe775Leu) c.2337T>G (p.Phe779Leu) c.2307T>G (p.Phe769Leu) | |
| 4 | g.159341703G>A | CA3124801 | RAPGEF2 | c.2191G>A (p.Glu731Lys) c.2674G>A (p.Glu892Lys) c.2656G>A (p.Glu886Lys) c.2320G>A (p.Glu774Lys) c.2326G>A (p.Glu776Lys) c.2338G>A (p.Glu780Lys) c.2308G>A (p.Glu770Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341703G>C | CA358591289 | RAPGEF2 | c.2191G>C (p.Glu731Gln) c.2674G>C (p.Glu892Gln) c.2656G>C (p.Glu886Gln) c.2320G>C (p.Glu774Gln) c.2326G>C (p.Glu776Gln) c.2338G>C (p.Glu780Gln) c.2308G>C (p.Glu770Gln) | |
| 4 | g.159341703G= | CA1507167730 | RAPGEF2 | c.2191G= (p.Glu731=) c.2674G= (p.Glu892=) c.2656G= (p.Glu886=) c.2320G= (p.Glu774=) c.2326G= (p.Glu776=) c.2338G= (p.Glu780=) c.2308G= (p.Glu770=) | |
| 4 | g.159341703G>T | CA358591288 | RAPGEF2 | c.2191G>T (p.Glu731Ter) c.2674G>T (p.Glu892Ter) c.2656G>T (p.Glu886Ter) c.2320G>T (p.Glu774Ter) c.2326G>T (p.Glu776Ter) c.2338G>T (p.Glu780Ter) c.2308G>T (p.Glu770Ter) | |
| 4 | g.159341704_159341713del | CA2578224657 | RAPGEF2 | c.2192_2201del (p.Glu731AlafsTer9) c.2675_2684del (p.Glu892AlafsTer9) c.2657_2666del (p.Glu886AlafsTer9) c.2321_2330del (p.Glu774AlafsTer9) c.2327_2336del (p.Glu776AlafsTer9) c.2339_2348del (p.Glu780AlafsTer9) c.2309_2318del (p.Glu770AlafsTer9) | |
| 4 | g.159341704A>C | CA358591292 | RAPGEF2 | c.2192A>C (p.Glu731Ala) c.2675A>C (p.Glu892Ala) c.2657A>C (p.Glu886Ala) c.2321A>C (p.Glu774Ala) c.2327A>C (p.Glu776Ala) c.2339A>C (p.Glu780Ala) c.2309A>C (p.Glu770Ala) | gnomAD v4 |
| 4 | g.159341704A>G | CA358591290 | RAPGEF2 | c.2192A>G (p.Glu731Gly) c.2675A>G (p.Glu892Gly) c.2657A>G (p.Glu886Gly) c.2321A>G (p.Glu774Gly) c.2327A>G (p.Glu776Gly) c.2339A>G (p.Glu780Gly) c.2309A>G (p.Glu770Gly) | |
| 4 | g.159341704A>T | CA358591291 | RAPGEF2 | c.2192A>T (p.Glu731Val) c.2675A>T (p.Glu892Val) c.2657A>T (p.Glu886Val) c.2321A>T (p.Glu774Val) c.2327A>T (p.Glu776Val) c.2339A>T (p.Glu780Val) c.2309A>T (p.Glu770Val) | |
| 4 | g.159341705A>C | CA358591293 | RAPGEF2 | c.2193A>C (p.Glu731Asp) c.2676A>C (p.Glu892Asp) c.2658A>C (p.Glu886Asp) c.2322A>C (p.Glu774Asp) c.2328A>C (p.Glu776Asp) c.2340A>C (p.Glu780Asp) c.2310A>C (p.Glu770Asp) | |
| 4 | g.159341705A>G | CA442268133 | RAPGEF2 | c.2193A>G (p.Glu731=) c.2676A>G (p.Glu892=) c.2658A>G (p.Glu886=) c.2322A>G (p.Glu774=) c.2328A>G (p.Glu776=) c.2340A>G (p.Glu780=) c.2310A>G (p.Glu770=) | |
| 4 | g.159341705A>T | CA358591294 | RAPGEF2 | c.2193A>T (p.Glu731Asp) c.2676A>T (p.Glu892Asp) c.2658A>T (p.Glu886Asp) c.2322A>T (p.Glu774Asp) c.2328A>T (p.Glu776Asp) c.2340A>T (p.Glu780Asp) c.2310A>T (p.Glu770Asp) | |
| 4 | g.159341706C>A | CA358591295 | RAPGEF2 | c.2194C>A (p.Leu732Ile) c.2677C>A (p.Leu893Ile) c.2659C>A (p.Leu887Ile) c.2323C>A (p.Leu775Ile) c.2329C>A (p.Leu777Ile) c.2341C>A (p.Leu781Ile) c.2311C>A (p.Leu771Ile) | |
| 4 | g.159341706C>G | CA358591296 | RAPGEF2 | c.2194C>G (p.Leu732Val) c.2677C>G (p.Leu893Val) c.2659C>G (p.Leu887Val) c.2323C>G (p.Leu775Val) c.2329C>G (p.Leu777Val) c.2341C>G (p.Leu781Val) c.2311C>G (p.Leu771Val) | gnomAD v4 |
| 4 | g.159341706C>T | CA358591297 | RAPGEF2 | c.2194C>T (p.Leu732Phe) c.2677C>T (p.Leu893Phe) c.2659C>T (p.Leu887Phe) c.2323C>T (p.Leu775Phe) c.2329C>T (p.Leu777Phe) c.2341C>T (p.Leu781Phe) c.2311C>T (p.Leu771Phe) | |
| 4 | g.159341707T>A | CA358591298 | RAPGEF2 | c.2195T>A (p.Leu732His) c.2678T>A (p.Leu893His) c.2660T>A (p.Leu887His) c.2324T>A (p.Leu775His) c.2330T>A (p.Leu777His) c.2342T>A (p.Leu781His) c.2312T>A (p.Leu771His) | |
| 4 | g.159341707T>C | CA358591299 | RAPGEF2 | c.2195T>C (p.Leu732Pro) c.2678T>C (p.Leu893Pro) c.2660T>C (p.Leu887Pro) c.2324T>C (p.Leu775Pro) c.2330T>C (p.Leu777Pro) c.2342T>C (p.Leu781Pro) c.2312T>C (p.Leu771Pro) | |
| 4 | g.159341707T>G | CA358591300 | RAPGEF2 | c.2195T>G (p.Leu732Arg) c.2678T>G (p.Leu893Arg) c.2660T>G (p.Leu887Arg) c.2324T>G (p.Leu775Arg) c.2330T>G (p.Leu777Arg) c.2342T>G (p.Leu781Arg) c.2312T>G (p.Leu771Arg) | |
| 4 | g.159341708C>A | CA442268134 | RAPGEF2 | c.2196C>A (p.Leu732=) c.2679C>A (p.Leu893=) c.2661C>A (p.Leu887=) c.2325C>A (p.Leu775=) c.2331C>A (p.Leu777=) c.2343C>A (p.Leu781=) c.2313C>A (p.Leu771=) | |
| 4 | g.159341708C= | CA1507167731 | RAPGEF2 | c.2196C= (p.Leu732=) c.2679C= (p.Leu893=) c.2661C= (p.Leu887=) c.2325C= (p.Leu775=) c.2331C= (p.Leu777=) c.2343C= (p.Leu781=) c.2313C= (p.Leu771=) | |
| 4 | g.159341708C>G | CA442268135 | RAPGEF2 | c.2196C>G (p.Leu732=) c.2679C>G (p.Leu893=) c.2661C>G (p.Leu887=) c.2325C>G (p.Leu775=) c.2331C>G (p.Leu777=) c.2343C>G (p.Leu781=) c.2313C>G (p.Leu771=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.159341708C>T | CA442268136 | RAPGEF2 | c.2196C>T (p.Leu732=) c.2679C>T (p.Leu893=) c.2661C>T (p.Leu887=) c.2325C>T (p.Leu775=) c.2331C>T (p.Leu777=) c.2343C>T (p.Leu781=) c.2313C>T (p.Leu771=) | |
| 4 | g.159341709T>A | CA358591301 | RAPGEF2 | c.2197T>A (p.Phe733Ile) c.2680T>A (p.Phe894Ile) c.2662T>A (p.Phe888Ile) c.2326T>A (p.Phe776Ile) c.2332T>A (p.Phe778Ile) c.2344T>A (p.Phe782Ile) c.2314T>A (p.Phe772Ile) | |
| 4 | g.159341709T>C | CA358591302 | RAPGEF2 | c.2197T>C (p.Phe733Leu) c.2680T>C (p.Phe894Leu) c.2662T>C (p.Phe888Leu) c.2326T>C (p.Phe776Leu) c.2332T>C (p.Phe778Leu) c.2344T>C (p.Phe782Leu) c.2314T>C (p.Phe772Leu) | |
| 4 | g.159341709T>G | CA358591303 | RAPGEF2 | c.2197T>G (p.Phe733Val) c.2680T>G (p.Phe894Val) c.2662T>G (p.Phe888Val) c.2326T>G (p.Phe776Val) c.2332T>G (p.Phe778Val) c.2344T>G (p.Phe782Val) c.2314T>G (p.Phe772Val) | |
| 4 | g.159341710T>A | CA358591306 | RAPGEF2 | c.2198T>A (p.Phe733Tyr) c.2681T>A (p.Phe894Tyr) c.2663T>A (p.Phe888Tyr) c.2327T>A (p.Phe776Tyr) c.2333T>A (p.Phe778Tyr) c.2345T>A (p.Phe782Tyr) c.2315T>A (p.Phe772Tyr) | |
| 4 | g.159341710T>C | CA358591304 | RAPGEF2 | c.2198T>C (p.Phe733Ser) c.2681T>C (p.Phe894Ser) c.2663T>C (p.Phe888Ser) c.2327T>C (p.Phe776Ser) c.2333T>C (p.Phe778Ser) c.2345T>C (p.Phe782Ser) c.2315T>C (p.Phe772Ser) | |
| 4 | g.159341710T>G | CA358591305 | RAPGEF2 | c.2198T>G (p.Phe733Cys) c.2681T>G (p.Phe894Cys) c.2663T>G (p.Phe888Cys) c.2327T>G (p.Phe776Cys) c.2333T>G (p.Phe778Cys) c.2345T>G (p.Phe782Cys) c.2315T>G (p.Phe772Cys) | |
| 4 | g.159341711T>A | CA358591307 | RAPGEF2 | c.2199T>A (p.Phe733Leu) c.2682T>A (p.Phe894Leu) c.2664T>A (p.Phe888Leu) c.2328T>A (p.Phe776Leu) c.2334T>A (p.Phe778Leu) c.2346T>A (p.Phe782Leu) c.2316T>A (p.Phe772Leu) | |
| 4 | g.159341711T>C | CA3124802 | RAPGEF2 | c.2199T>C (p.Phe733=) c.2682T>C (p.Phe894=) c.2664T>C (p.Phe888=) c.2328T>C (p.Phe776=) c.2334T>C (p.Phe778=) c.2346T>C (p.Phe782=) c.2316T>C (p.Phe772=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341711T>G | CA358591308 | RAPGEF2 | c.2199T>G (p.Phe733Leu) c.2682T>G (p.Phe894Leu) c.2664T>G (p.Phe888Leu) c.2328T>G (p.Phe776Leu) c.2334T>G (p.Phe778Leu) c.2346T>G (p.Phe782Leu) c.2316T>G (p.Phe772Leu) | gnomAD v4 |
| 4 | g.159341711T= | CA1507167732 | RAPGEF2 | c.2199T= (p.Phe733=) c.2682T= (p.Phe894=) c.2664T= (p.Phe888=) c.2328T= (p.Phe776=) c.2334T= (p.Phe778=) c.2346T= (p.Phe782=) c.2316T= (p.Phe772=) | |
| 4 | g.159341712C>A | CA358591309 | RAPGEF2 | c.2200C>A (p.Arg734Ser) c.2683C>A (p.Arg895Ser) c.2665C>A (p.Arg889Ser) c.2329C>A (p.Arg777Ser) c.2335C>A (p.Arg779Ser) c.2347C>A (p.Arg783Ser) c.2317C>A (p.Arg773Ser) | |
| 4 | g.159341712C= | CA1507167733 | RAPGEF2 | c.2200C= (p.Arg734=) c.2683C= (p.Arg895=) c.2665C= (p.Arg889=) c.2329C= (p.Arg777=) c.2335C= (p.Arg779=) c.2347C= (p.Arg783=) c.2317C= (p.Arg773=) | |
| 4 | g.159341712C>G | CA358591310 | RAPGEF2 | c.2200C>G (p.Arg734Gly) c.2683C>G (p.Arg895Gly) c.2665C>G (p.Arg889Gly) c.2329C>G (p.Arg777Gly) c.2335C>G (p.Arg779Gly) c.2347C>G (p.Arg783Gly) c.2317C>G (p.Arg773Gly) | |
| 4 | g.159341712C>T | CA358591311 | RAPGEF2 | c.2200C>T (p.Arg734Cys) c.2683C>T (p.Arg895Cys) c.2665C>T (p.Arg889Cys) c.2329C>T (p.Arg777Cys) c.2335C>T (p.Arg779Cys) c.2347C>T (p.Arg783Cys) c.2317C>T (p.Arg773Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341713G>A | CA108901883 | RAPGEF2 | c.2201G>A (p.Arg734His) c.2684G>A (p.Arg895His) c.2666G>A (p.Arg889His) c.2330G>A (p.Arg777His) c.2336G>A (p.Arg779His) c.2348G>A (p.Arg783His) c.2318G>A (p.Arg773His) | dbSNP gnomAD v4 COSMIC |
| 4 | g.159341713G>C | CA358591312 | RAPGEF2 | c.2201G>C (p.Arg734Pro) c.2684G>C (p.Arg895Pro) c.2666G>C (p.Arg889Pro) c.2330G>C (p.Arg777Pro) c.2336G>C (p.Arg779Pro) c.2348G>C (p.Arg783Pro) c.2318G>C (p.Arg773Pro) | |
| 4 | g.159341713G= | CA1507167734 | RAPGEF2 | c.2201G= (p.Arg734=) c.2684G= (p.Arg895=) c.2666G= (p.Arg889=) c.2330G= (p.Arg777=) c.2336G= (p.Arg779=) c.2348G= (p.Arg783=) c.2318G= (p.Arg773=) | |
| 4 | g.159341713G>T | CA358591313 | RAPGEF2 | c.2201G>T (p.Arg734Leu) c.2684G>T (p.Arg895Leu) c.2666G>T (p.Arg889Leu) c.2330G>T (p.Arg777Leu) c.2336G>T (p.Arg779Leu) c.2348G>T (p.Arg783Leu) c.2318G>T (p.Arg773Leu) | |
| 4 | g.159341714C>A | CA442268137 | RAPGEF2 | c.2202C>A (p.Arg734=) c.2685C>A (p.Arg895=) c.2667C>A (p.Arg889=) c.2331C>A (p.Arg777=) c.2337C>A (p.Arg779=) c.2349C>A (p.Arg783=) c.2319C>A (p.Arg773=) | |
| 4 | g.159341714C= | CA1507167735 | RAPGEF2 | c.2202C= (p.Arg734=) c.2685C= (p.Arg895=) c.2667C= (p.Arg889=) c.2331C= (p.Arg777=) c.2337C= (p.Arg779=) c.2349C= (p.Arg783=) c.2319C= (p.Arg773=) | |
| 4 | g.159341714C>G | CA442268138 | RAPGEF2 | c.2202C>G (p.Arg734=) c.2685C>G (p.Arg895=) c.2667C>G (p.Arg889=) c.2331C>G (p.Arg777=) c.2337C>G (p.Arg779=) c.2349C>G (p.Arg783=) c.2319C>G (p.Arg773=) | |
| 4 | g.159341714C>T | CA442268139 | RAPGEF2 | c.2202C>T (p.Arg734=) c.2685C>T (p.Arg895=) c.2667C>T (p.Arg889=) c.2331C>T (p.Arg777=) c.2337C>T (p.Arg779=) c.2349C>T (p.Arg783=) c.2319C>T (p.Arg773=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341715A>C | CA358591314 | RAPGEF2 | c.2203A>C (p.Asn735His) c.2686A>C (p.Asn896His) c.2668A>C (p.Asn890His) c.2332A>C (p.Asn778His) c.2338A>C (p.Asn780His) c.2350A>C (p.Asn784His) c.2320A>C (p.Asn774His) | |
| 4 | g.159341715A>G | CA358591315 | RAPGEF2 | c.2203A>G (p.Asn735Asp) c.2686A>G (p.Asn896Asp) c.2668A>G (p.Asn890Asp) c.2332A>G (p.Asn778Asp) c.2338A>G (p.Asn780Asp) c.2350A>G (p.Asn784Asp) c.2320A>G (p.Asn774Asp) | |
| 4 | g.159341715A>T | CA358591316 | RAPGEF2 | c.2203A>T (p.Asn735Tyr) c.2686A>T (p.Asn896Tyr) c.2668A>T (p.Asn890Tyr) c.2332A>T (p.Asn778Tyr) c.2338A>T (p.Asn780Tyr) c.2350A>T (p.Asn784Tyr) c.2320A>T (p.Asn774Tyr) | |
| 4 | g.159341716A= | CA1507167736 | RAPGEF2 | c.2204A= (p.Asn735=) c.2687A= (p.Asn896=) c.2669A= (p.Asn890=) c.2333A= (p.Asn778=) c.2339A= (p.Asn780=) c.2351A= (p.Asn784=) c.2321A= (p.Asn774=) | |
| 4 | g.159341716A>C | CA358591318 | RAPGEF2 | c.2204A>C (p.Asn735Thr) c.2687A>C (p.Asn896Thr) c.2669A>C (p.Asn890Thr) c.2333A>C (p.Asn778Thr) c.2339A>C (p.Asn780Thr) c.2351A>C (p.Asn784Thr) c.2321A>C (p.Asn774Thr) | |
| 4 | g.159341716A>G | CA3124803 | RAPGEF2 | c.2204A>G (p.Asn735Ser) c.2687A>G (p.Asn896Ser) c.2669A>G (p.Asn890Ser) c.2333A>G (p.Asn778Ser) c.2339A>G (p.Asn780Ser) c.2351A>G (p.Asn784Ser) c.2321A>G (p.Asn774Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341716A>T | CA358591317 | RAPGEF2 | c.2204A>T (p.Asn735Ile) c.2687A>T (p.Asn896Ile) c.2669A>T (p.Asn890Ile) c.2333A>T (p.Asn778Ile) c.2339A>T (p.Asn780Ile) c.2351A>T (p.Asn784Ile) c.2321A>T (p.Asn774Ile) | |
| 4 | g.159341717C>A | CA358591319 | RAPGEF2 | c.2205C>A (p.Asn735Lys) c.2688C>A (p.Asn896Lys) c.2670C>A (p.Asn890Lys) c.2334C>A (p.Asn778Lys) c.2340C>A (p.Asn780Lys) c.2352C>A (p.Asn784Lys) c.2322C>A (p.Asn774Lys) | |
| 4 | g.159341717C>G | CA358591320 | RAPGEF2 | c.2205C>G (p.Asn735Lys) c.2688C>G (p.Asn896Lys) c.2670C>G (p.Asn890Lys) c.2334C>G (p.Asn778Lys) c.2340C>G (p.Asn780Lys) c.2352C>G (p.Asn784Lys) c.2322C>G (p.Asn774Lys) | |
| 4 | g.159341717C>T | CA442268140 | RAPGEF2 | c.2205C>T (p.Asn735=) c.2688C>T (p.Asn896=) c.2670C>T (p.Asn890=) c.2334C>T (p.Asn778=) c.2340C>T (p.Asn780=) c.2352C>T (p.Asn784=) c.2322C>T (p.Asn774=) | |
| 4 | g.159341718A>C | CA358591321 | RAPGEF2 | c.2206A>C (p.Ile736Leu) c.2689A>C (p.Ile897Leu) c.2671A>C (p.Ile891Leu) c.2335A>C (p.Ile779Leu) c.2341A>C (p.Ile781Leu) c.2353A>C (p.Ile785Leu) c.2323A>C (p.Ile775Leu) | |
| 4 | g.159341718A>G | CA358591322 | RAPGEF2 | c.2206A>G (p.Ile736Val) c.2689A>G (p.Ile897Val) c.2671A>G (p.Ile891Val) c.2335A>G (p.Ile779Val) c.2341A>G (p.Ile781Val) c.2353A>G (p.Ile785Val) c.2323A>G (p.Ile775Val) | dbSNP |
| 4 | g.159341718A>T | CA358591323 | RAPGEF2 | c.2206A>T (p.Ile736Phe) c.2689A>T (p.Ile897Phe) c.2671A>T (p.Ile891Phe) c.2335A>T (p.Ile779Phe) c.2341A>T (p.Ile781Phe) c.2353A>T (p.Ile785Phe) c.2323A>T (p.Ile775Phe) | |
| 4 | g.159341719T>A | CA358591324 | RAPGEF2 | c.2207T>A (p.Ile736Asn) c.2690T>A (p.Ile897Asn) c.2672T>A (p.Ile891Asn) c.2336T>A (p.Ile779Asn) c.2342T>A (p.Ile781Asn) c.2354T>A (p.Ile785Asn) c.2324T>A (p.Ile775Asn) | |
| 4 | g.159341719T>C | CA3124804 | RAPGEF2 | c.2207T>C (p.Ile736Thr) c.2690T>C (p.Ile897Thr) c.2672T>C (p.Ile891Thr) c.2336T>C (p.Ile779Thr) c.2342T>C (p.Ile781Thr) c.2354T>C (p.Ile785Thr) c.2324T>C (p.Ile775Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341719T>G | CA358591325 | RAPGEF2 | c.2207T>G (p.Ile736Ser) c.2690T>G (p.Ile897Ser) c.2672T>G (p.Ile891Ser) c.2336T>G (p.Ile779Ser) c.2342T>G (p.Ile781Ser) c.2354T>G (p.Ile785Ser) c.2324T>G (p.Ile775Ser) | |
| 4 | g.159341719T= | CA1507167737 | RAPGEF2 | c.2207T= (p.Ile736=) c.2690T= (p.Ile897=) c.2672T= (p.Ile891=) c.2336T= (p.Ile779=) c.2342T= (p.Ile781=) c.2354T= (p.Ile785=) c.2324T= (p.Ile775=) | |
| 4 | g.159341720T>A | CA442268141 | RAPGEF2 | c.2208T>A (p.Ile736=) c.2691T>A (p.Ile897=) c.2673T>A (p.Ile891=) c.2337T>A (p.Ile779=) c.2343T>A (p.Ile781=) c.2355T>A (p.Ile785=) c.2325T>A (p.Ile775=) | |
| 4 | g.159341720T>C | CA442268142 | RAPGEF2 | c.2208T>C (p.Ile736=) c.2691T>C (p.Ile897=) c.2673T>C (p.Ile891=) c.2337T>C (p.Ile779=) c.2343T>C (p.Ile781=) c.2355T>C (p.Ile785=) c.2325T>C (p.Ile775=) | |
| 4 | g.159341720T>G | CA358591326 | RAPGEF2 | c.2208T>G (p.Ile736Met) c.2691T>G (p.Ile897Met) c.2673T>G (p.Ile891Met) c.2337T>G (p.Ile779Met) c.2343T>G (p.Ile781Met) c.2355T>G (p.Ile785Met) c.2325T>G (p.Ile775Met) | |
| 4 | g.159341721G>A | CA358591327 | RAPGEF2 | c.2209G>A (p.Glu737Lys) c.2692G>A (p.Glu898Lys) c.2674G>A (p.Glu892Lys) c.2338G>A (p.Glu780Lys) c.2344G>A (p.Glu782Lys) c.2356G>A (p.Glu786Lys) c.2326G>A (p.Glu776Lys) | |
| 4 | g.159341721G>C | CA3124805 | RAPGEF2 | c.2209G>C (p.Glu737Gln) c.2692G>C (p.Glu898Gln) c.2674G>C (p.Glu892Gln) c.2338G>C (p.Glu780Gln) c.2344G>C (p.Glu782Gln) c.2356G>C (p.Glu786Gln) c.2326G>C (p.Glu776Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341721G= | CA1507167738 | RAPGEF2 | c.2209G= (p.Glu737=) c.2692G= (p.Glu898=) c.2674G= (p.Glu892=) c.2338G= (p.Glu780=) c.2344G= (p.Glu782=) c.2356G= (p.Glu786=) c.2326G= (p.Glu776=) | |
| 4 | g.159341721G>T | CA358591328 | RAPGEF2 | c.2209G>T (p.Glu737Ter) c.2692G>T (p.Glu898Ter) c.2674G>T (p.Glu892Ter) c.2338G>T (p.Glu780Ter) c.2344G>T (p.Glu782Ter) c.2356G>T (p.Glu786Ter) c.2326G>T (p.Glu776Ter) | |
| 4 | g.159341722A>C | CA358591329 | RAPGEF2 | c.2210A>C (p.Glu737Ala) c.2693A>C (p.Glu898Ala) c.2675A>C (p.Glu892Ala) c.2339A>C (p.Glu780Ala) c.2345A>C (p.Glu782Ala) c.2357A>C (p.Glu786Ala) c.2327A>C (p.Glu776Ala) | |
| 4 | g.159341722A>G | CA358591330 | RAPGEF2 | c.2210A>G (p.Glu737Gly) c.2693A>G (p.Glu898Gly) c.2675A>G (p.Glu892Gly) c.2339A>G (p.Glu780Gly) c.2345A>G (p.Glu782Gly) c.2357A>G (p.Glu786Gly) c.2327A>G (p.Glu776Gly) | |
| 4 | g.159341722A>T | CA358591331 | RAPGEF2 | c.2210A>T (p.Glu737Val) c.2693A>T (p.Glu898Val) c.2675A>T (p.Glu892Val) c.2339A>T (p.Glu780Val) c.2345A>T (p.Glu782Val) c.2357A>T (p.Glu786Val) c.2327A>T (p.Glu776Val) | |
| 4 | g.159341723A>C | CA358591332 | RAPGEF2 | c.2211A>C (p.Glu737Asp) c.2694A>C (p.Glu898Asp) c.2676A>C (p.Glu892Asp) c.2340A>C (p.Glu780Asp) c.2346A>C (p.Glu782Asp) c.2358A>C (p.Glu786Asp) c.2328A>C (p.Glu776Asp) | |
| 4 | g.159341723A>G | CA442268143 | RAPGEF2 | c.2211A>G (p.Glu737=) c.2694A>G (p.Glu898=) c.2676A>G (p.Glu892=) c.2340A>G (p.Glu780=) c.2346A>G (p.Glu782=) c.2358A>G (p.Glu786=) c.2328A>G (p.Glu776=) | |
| 4 | g.159341723A>T | CA358591333 | RAPGEF2 | c.2211A>T (p.Glu737Asp) c.2694A>T (p.Glu898Asp) c.2676A>T (p.Glu892Asp) c.2340A>T (p.Glu780Asp) c.2346A>T (p.Glu782Asp) c.2358A>T (p.Glu786Asp) c.2328A>T (p.Glu776Asp) | |
| 4 | g.159341724C>A | CA358591334 | RAPGEF2 | c.2212C>A (p.Pro738Thr) c.2695C>A (p.Pro899Thr) c.2677C>A (p.Pro893Thr) c.2341C>A (p.Pro781Thr) c.2347C>A (p.Pro783Thr) c.2359C>A (p.Pro787Thr) c.2329C>A (p.Pro777Thr) | |
| 4 | g.159341724C>G | CA358591335 | RAPGEF2 | c.2212C>G (p.Pro738Ala) c.2695C>G (p.Pro899Ala) c.2677C>G (p.Pro893Ala) c.2341C>G (p.Pro781Ala) c.2347C>G (p.Pro783Ala) c.2359C>G (p.Pro787Ala) c.2329C>G (p.Pro777Ala) | gnomAD v4 |
| 4 | g.159341724C>T | CA358591336 | RAPGEF2 | c.2212C>T (p.Pro738Ser) c.2695C>T (p.Pro899Ser) c.2677C>T (p.Pro893Ser) c.2341C>T (p.Pro781Ser) c.2347C>T (p.Pro783Ser) c.2359C>T (p.Pro787Ser) c.2329C>T (p.Pro777Ser) | gnomAD v4 |
| 4 | g.159341725C>A | CA358591337 | RAPGEF2 | c.2213C>A (p.Pro738His) c.2696C>A (p.Pro899His) c.2678C>A (p.Pro893His) c.2342C>A (p.Pro781His) c.2348C>A (p.Pro783His) c.2360C>A (p.Pro787His) c.2330C>A (p.Pro777His) | |
| 4 | g.159341725C>G | CA358591338 | RAPGEF2 | c.2213C>G (p.Pro738Arg) c.2696C>G (p.Pro899Arg) c.2678C>G (p.Pro893Arg) c.2342C>G (p.Pro781Arg) c.2348C>G (p.Pro783Arg) c.2360C>G (p.Pro787Arg) c.2330C>G (p.Pro777Arg) | |
| 4 | g.159341725C>T | CA358591339 | RAPGEF2 | c.2213C>T (p.Pro738Leu) c.2696C>T (p.Pro899Leu) c.2678C>T (p.Pro893Leu) c.2342C>T (p.Pro781Leu) c.2348C>T (p.Pro783Leu) c.2360C>T (p.Pro787Leu) c.2330C>T (p.Pro777Leu) | gnomAD v4 |
| 4 | g.159341726T>A | CA442268144 | RAPGEF2 | c.2214T>A (p.Pro738=) c.2697T>A (p.Pro899=) c.2679T>A (p.Pro893=) c.2343T>A (p.Pro781=) c.2349T>A (p.Pro783=) c.2361T>A (p.Pro787=) c.2331T>A (p.Pro777=) | |
| 4 | g.159341726T>C | CA442268145 | RAPGEF2 | c.2214T>C (p.Pro738=) c.2697T>C (p.Pro899=) c.2679T>C (p.Pro893=) c.2343T>C (p.Pro781=) c.2349T>C (p.Pro783=) c.2361T>C (p.Pro787=) c.2331T>C (p.Pro777=) | |
| 4 | g.159341726T>G | CA442268146 | RAPGEF2 | c.2214T>G (p.Pro738=) c.2697T>G (p.Pro899=) c.2679T>G (p.Pro893=) c.2343T>G (p.Pro781=) c.2349T>G (p.Pro783=) c.2361T>G (p.Pro787=) c.2331T>G (p.Pro777=) |