Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47284940G>A | CA380337026 | MADD | c.1954-1G>A (n.1954-1G>A) c.2158-1G>A (n.2158-1G>A) c.283-1G>A (n.283-1G>A) c.199-1G>A (n.199-1G>A) n.2373-1G>A c.2134-1G>A (n.2134-1G>A) c.1492-1G>A (n.1492-1G>A) n.2360-1G>A n.2210-1G>A n.2336-1G>A | |
11 | g.47284940G>C | CA380337027 | MADD | c.1954-1G>C (n.1954-1G>C) c.2158-1G>C (n.2158-1G>C) c.283-1G>C (n.283-1G>C) c.199-1G>C (n.199-1G>C) n.2373-1G>C c.2134-1G>C (n.2134-1G>C) c.1492-1G>C (n.1492-1G>C) n.2360-1G>C n.2210-1G>C n.2336-1G>C | |
11 | g.47284940G>T | CA380337028 | MADD | c.1954-1G>T (n.1954-1G>T) c.2158-1G>T (n.2158-1G>T) c.283-1G>T (n.283-1G>T) c.199-1G>T (n.199-1G>T) n.2373-1G>T c.2134-1G>T (n.2134-1G>T) c.1492-1G>T (n.1492-1G>T) n.2360-1G>T n.2210-1G>T n.2336-1G>T | |
11 | g.47284941G>A | CA380337040 | MADD | c.1954G>A (p.Glu652Lys) c.2158G>A (p.Glu720Lys) c.283G>A (p.Glu95Lys) c.199G>A (p.Glu67Lys) n.2373G>A c.2134G>A (p.Glu712Lys) c.1492G>A (p.Glu498Lys) n.2360G>A n.2210G>A n.2336G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47284941G>C | CA380337042 | MADD | c.1954G>C (p.Glu652Gln) c.2158G>C (p.Glu720Gln) c.283G>C (p.Glu95Gln) c.199G>C (p.Glu67Gln) n.2373G>C c.2134G>C (p.Glu712Gln) c.1492G>C (p.Glu498Gln) n.2360G>C n.2210G>C n.2336G>C | |
11 | g.47284941G= | CA1969313085 | MADD | c.1954G= (p.Glu652=) c.2158G= (p.Glu720=) c.283G= (p.Glu95=) c.199G= (p.Glu67=) n.2373G= c.2134G= (p.Glu712=) c.1492G= (p.Glu498=) n.2360G= n.2210G= n.2336G= | |
11 | g.47284941G>T | CA380337045 | MADD | c.1954G>T (p.Glu652Ter) c.2158G>T (p.Glu720Ter) c.283G>T (p.Glu95Ter) c.199G>T (p.Glu67Ter) n.2373G>T c.2134G>T (p.Glu712Ter) c.1492G>T (p.Glu498Ter) n.2360G>T n.2210G>T n.2336G>T | |
11 | g.47284942A= | CA1969313091 | MADD | c.1955A= (p.Glu652=) c.2159A= (p.Glu720=) c.284A= (p.Glu95=) c.200A= (p.Glu67=) n.2374A= c.2135A= (p.Glu712=) c.1493A= (p.Glu498=) n.2361A= n.2211A= n.2337A= | |
11 | g.47284942A>C | CA380337049 | MADD | c.1955A>C (p.Glu652Ala) c.2159A>C (p.Glu720Ala) c.284A>C (p.Glu95Ala) c.200A>C (p.Glu67Ala) n.2374A>C c.2135A>C (p.Glu712Ala) c.1493A>C (p.Glu498Ala) n.2361A>C n.2211A>C n.2337A>C | |
11 | g.47284942A>G | CA5974366 | MADD | c.1955A>G (p.Glu652Gly) c.2159A>G (p.Glu720Gly) c.284A>G (p.Glu95Gly) c.200A>G (p.Glu67Gly) n.2374A>G c.2135A>G (p.Glu712Gly) c.1493A>G (p.Glu498Gly) n.2361A>G n.2211A>G n.2337A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47284942A>T | CA380337055 | MADD | c.1955A>T (p.Glu652Val) c.2159A>T (p.Glu720Val) c.284A>T (p.Glu95Val) c.200A>T (p.Glu67Val) n.2374A>T c.2135A>T (p.Glu712Val) c.1493A>T (p.Glu498Val) n.2361A>T n.2211A>T n.2337A>T | |
11 | g.47284943A= | CA1969313095 | MADD | c.1956A= (p.Glu652=) c.2160A= (p.Glu720=) c.285A= (p.Glu95=) c.201A= (p.Glu67=) n.2375A= c.2136A= (p.Glu712=) c.1494A= (p.Glu498=) n.2362A= n.2212A= n.2338A= | |
11 | g.47284943A>C | CA380337059 | MADD | c.1956A>C (p.Glu652Asp) c.2160A>C (p.Glu720Asp) c.285A>C (p.Glu95Asp) c.201A>C (p.Glu67Asp) n.2375A>C c.2136A>C (p.Glu712Asp) c.1494A>C (p.Glu498Asp) n.2362A>C n.2212A>C n.2338A>C | dbSNP |
11 | g.47284943A>G | CA5974367 | MADD | c.1956A>G (p.Glu652=) c.2160A>G (p.Glu720=) c.285A>G (p.Glu95=) c.201A>G (p.Glu67=) n.2375A>G c.2136A>G (p.Glu712=) c.1494A>G (p.Glu498=) n.2362A>G n.2212A>G n.2338A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47284943A>T | CA380337063 | MADD | c.1956A>T (p.Glu652Asp) c.2160A>T (p.Glu720Asp) c.285A>T (p.Glu95Asp) c.201A>T (p.Glu67Asp) n.2375A>T c.2136A>T (p.Glu712Asp) c.1494A>T (p.Glu498Asp) n.2362A>T n.2212A>T n.2338A>T | |
11 | g.47284944C>A | CA380337067 | MADD | c.1957C>A (p.Pro653Thr) c.2161C>A (p.Pro721Thr) c.286C>A (p.Pro96Thr) c.202C>A (p.Pro68Thr) n.2376C>A c.2137C>A (p.Pro713Thr) c.1495C>A (p.Pro499Thr) n.2363C>A n.2213C>A n.2339C>A | |
11 | g.47284944C>G | CA380337077 | MADD | c.1957C>G (p.Pro653Ala) c.2161C>G (p.Pro721Ala) c.286C>G (p.Pro96Ala) c.202C>G (p.Pro68Ala) n.2376C>G c.2137C>G (p.Pro713Ala) c.1495C>G (p.Pro499Ala) n.2363C>G n.2213C>G n.2339C>G | |
11 | g.47284944C>T | CA380337076 | MADD | c.1957C>T (p.Pro653Ser) c.2161C>T (p.Pro721Ser) c.286C>T (p.Pro96Ser) c.202C>T (p.Pro68Ser) n.2376C>T c.2137C>T (p.Pro713Ser) c.1495C>T (p.Pro499Ser) n.2363C>T n.2213C>T n.2339C>T | gnomAD v4 |
11 | g.47284945C>A | CA380337078 | MADD | c.1958C>A (p.Pro653His) c.2162C>A (p.Pro721His) c.287C>A (p.Pro96His) c.203C>A (p.Pro68His) n.2377C>A c.2138C>A (p.Pro713His) c.1496C>A (p.Pro499His) n.2364C>A n.2214C>A n.2340C>A | |
11 | g.47284945C>G | CA380337085 | MADD | c.1958C>G (p.Pro653Arg) c.2162C>G (p.Pro721Arg) c.287C>G (p.Pro96Arg) c.203C>G (p.Pro68Arg) n.2377C>G c.2138C>G (p.Pro713Arg) c.1496C>G (p.Pro499Arg) n.2364C>G n.2214C>G n.2340C>G | |
11 | g.47284945C>T | CA380337080 | MADD | c.1958C>T (p.Pro653Leu) c.2162C>T (p.Pro721Leu) c.287C>T (p.Pro96Leu) c.203C>T (p.Pro68Leu) n.2377C>T c.2138C>T (p.Pro713Leu) c.1496C>T (p.Pro499Leu) n.2364C>T n.2214C>T n.2340C>T | |
11 | g.47284946T>A | CA474221989 | MADD | c.1959T>A (p.Pro653=) c.2163T>A (p.Pro721=) n.1T>A c.288T>A (p.Pro96=) c.204T>A (p.Pro68=) n.2378T>A c.2139T>A (p.Pro713=) c.1497T>A (p.Pro499=) n.2365T>A n.2215T>A n.2341T>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47284946T>C | CA474221992 | MADD | c.1959T>C (p.Pro653=) c.2163T>C (p.Pro721=) n.1T>C c.288T>C (p.Pro96=) c.204T>C (p.Pro68=) n.2378T>C c.2139T>C (p.Pro713=) c.1497T>C (p.Pro499=) n.2365T>C n.2215T>C n.2341T>C | |
11 | g.47284946T>G | CA474221991 | MADD | c.1959T>G (p.Pro653=) c.2163T>G (p.Pro721=) n.1T>G c.288T>G (p.Pro96=) c.204T>G (p.Pro68=) n.2378T>G c.2139T>G (p.Pro713=) c.1497T>G (p.Pro499=) n.2365T>G n.2215T>G n.2341T>G | |
11 | g.47284946T= | CA1969313099 | MADD | c.1959T= (p.Pro653=) c.2163T= (p.Pro721=) n.1T= c.288T= (p.Pro96=) c.204T= (p.Pro68=) n.2378T= c.2139T= (p.Pro713=) c.1497T= (p.Pro499=) n.2365T= n.2215T= n.2341T= | |
11 | g.47284947G>A | CA380337086 | MADD | c.1960G>A (p.Ala654Thr) c.2164G>A (p.Ala722Thr) n.2G>A c.289G>A (p.Ala97Thr) c.205G>A (p.Ala69Thr) n.2379G>A c.2140G>A (p.Ala714Thr) c.1498G>A (p.Ala500Thr) n.2366G>A n.2216G>A n.2342G>A | gnomAD v4 |
11 | g.47284947G>C | CA380337087 | MADD | c.1960G>C (p.Ala654Pro) c.2164G>C (p.Ala722Pro) n.2G>C c.289G>C (p.Ala97Pro) c.205G>C (p.Ala69Pro) n.2379G>C c.2140G>C (p.Ala714Pro) c.1498G>C (p.Ala500Pro) n.2366G>C n.2216G>C n.2342G>C | |
11 | g.47284947G>T | CA380337088 | MADD | c.1960G>T (p.Ala654Ser) c.2164G>T (p.Ala722Ser) n.2G>T c.289G>T (p.Ala97Ser) c.205G>T (p.Ala69Ser) n.2379G>T c.2140G>T (p.Ala714Ser) c.1498G>T (p.Ala500Ser) n.2366G>T n.2216G>T n.2342G>T | |
11 | g.47284948C>A | CA380337092 | MADD | c.1961C>A (p.Ala654Asp) c.2165C>A (p.Ala722Asp) n.3C>A c.290C>A (p.Ala97Asp) c.206C>A (p.Ala69Asp) n.2380C>A c.2141C>A (p.Ala714Asp) c.1499C>A (p.Ala500Asp) n.2367C>A n.2217C>A n.2343C>A | |
11 | g.47284948C>G | CA380337095 | MADD | c.1961C>G (p.Ala654Gly) c.2165C>G (p.Ala722Gly) n.3C>G c.290C>G (p.Ala97Gly) c.206C>G (p.Ala69Gly) n.2380C>G c.2141C>G (p.Ala714Gly) c.1499C>G (p.Ala500Gly) n.2367C>G n.2217C>G n.2343C>G | |
11 | g.47284948C>T | CA380337099 | MADD | c.1961C>T (p.Ala654Val) c.2165C>T (p.Ala722Val) n.3C>T c.290C>T (p.Ala97Val) c.206C>T (p.Ala69Val) n.2380C>T c.2141C>T (p.Ala714Val) c.1499C>T (p.Ala500Val) n.2367C>T n.2217C>T n.2343C>T | gnomAD v4 |
11 | g.47284949T>A | CA474222006 | MADD | c.1962T>A (p.Ala654=) c.2166T>A (p.Ala722=) n.4T>A c.291T>A (p.Ala97=) c.207T>A (p.Ala69=) n.2381T>A c.2142T>A (p.Ala714=) c.1500T>A (p.Ala500=) n.2368T>A n.2218T>A n.2344T>A | |
11 | g.47284949T>C | CA474222008 | MADD | c.1962T>C (p.Ala654=) c.2166T>C (p.Ala722=) n.4T>C c.291T>C (p.Ala97=) c.207T>C (p.Ala69=) n.2381T>C c.2142T>C (p.Ala714=) c.1500T>C (p.Ala500=) n.2368T>C n.2218T>C n.2344T>C | |
11 | g.47284949T>G | CA474222010 | MADD | c.1962T>G (p.Ala654=) c.2166T>G (p.Ala722=) n.4T>G c.291T>G (p.Ala97=) c.207T>G (p.Ala69=) n.2381T>G c.2142T>G (p.Ala714=) c.1500T>G (p.Ala500=) n.2368T>G n.2218T>G n.2344T>G | |
11 | g.47284949_47284950delinsTG | CA1969313103 | MADD | c.1962_1963delinsTG (p.Ala654=) c.2166_2167delinsTG (p.Ala722=) n.4_5delinsTG c.291_292delinsTG (p.Ala97=) c.207_208delinsTG (p.Ala69=) n.2381_2382delinsTG c.2142_2143delinsTG (p.Ala714=) c.1500_1501delinsTG (p.Ala500=) n.2368_2369delinsTG n.2218_2219delinsTG n.2344_2345delinsTG | |
11 | g.47284950del | CA1969313105 | MADD | c.1963del (p.Asp655ThrfsTer11) c.2167del (p.Asp723ThrfsTer11) n.5del c.292del (p.Asp98ThrfsTer11) c.208del (p.Asp70ThrfsTer11) n.2382del c.2143del (p.Asp715ThrfsTer11) c.1501del (p.Asp501ThrfsTer11) n.2369del n.2219del n.2345del | dbSNP |
11 | g.47284950G>A | CA380337103 | MADD | c.1963G>A (p.Asp655Asn) c.2167G>A (p.Asp723Asn) n.5G>A c.292G>A (p.Asp98Asn) c.208G>A (p.Asp70Asn) n.2382G>A c.2143G>A (p.Asp715Asn) c.1501G>A (p.Asp501Asn) n.2369G>A n.2219G>A n.2345G>A | gnomAD v4 |
11 | g.47284950G>C | CA380337107 | MADD | c.1963G>C (p.Asp655His) c.2167G>C (p.Asp723His) n.5G>C c.292G>C (p.Asp98His) c.208G>C (p.Asp70His) n.2382G>C c.2143G>C (p.Asp715His) c.1501G>C (p.Asp501His) n.2369G>C n.2219G>C n.2345G>C | |
11 | g.47284950G>T | CA380337110 | MADD | c.1963G>T (p.Asp655Tyr) c.2167G>T (p.Asp723Tyr) n.5G>T c.292G>T (p.Asp98Tyr) c.208G>T (p.Asp70Tyr) n.2382G>T c.2143G>T (p.Asp715Tyr) c.1501G>T (p.Asp501Tyr) n.2369G>T n.2219G>T n.2345G>T | gnomAD v4 |
11 | g.47284951A= | CA1969313107 | MADD | c.1964A= (p.Asp655=) c.2168A= (p.Asp723=) n.6A= c.293A= (p.Asp98=) c.209A= (p.Asp70=) n.2383A= c.2144A= (p.Asp715=) c.1502A= (p.Asp501=) n.2370A= n.2220A= n.2346A= | |
11 | g.47284951A>C | CA380337113 | MADD | c.1964A>C (p.Asp655Ala) c.2168A>C (p.Asp723Ala) n.6A>C c.293A>C (p.Asp98Ala) c.209A>C (p.Asp70Ala) n.2383A>C c.2144A>C (p.Asp715Ala) c.1502A>C (p.Asp501Ala) n.2370A>C n.2220A>C n.2346A>C | gnomAD v4 |
11 | g.47284951A>G | CA380337118 | MADD | c.1964A>G (p.Asp655Gly) c.2168A>G (p.Asp723Gly) n.6A>G c.293A>G (p.Asp98Gly) c.209A>G (p.Asp70Gly) n.2383A>G c.2144A>G (p.Asp715Gly) c.1502A>G (p.Asp501Gly) n.2370A>G n.2220A>G n.2346A>G | dbSNP |
11 | g.47284951A>T | CA5974368 | MADD | c.1964A>T (p.Asp655Val) c.2168A>T (p.Asp723Val) n.6A>T c.293A>T (p.Asp98Val) c.209A>T (p.Asp70Val) n.2383A>T c.2144A>T (p.Asp715Val) c.1502A>T (p.Asp501Val) n.2370A>T n.2220A>T n.2346A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47284952C>A | CA380337128 | MADD | c.1965C>A (p.Asp655Glu) c.2169C>A (p.Asp723Glu) n.7C>A c.294C>A (p.Asp98Glu) c.210C>A (p.Asp70Glu) n.2384C>A c.2145C>A (p.Asp715Glu) c.1503C>A (p.Asp501Glu) n.2371C>A n.2221C>A n.2347C>A | |
11 | g.47284952C= | CA1969313108 | MADD | c.1965C= (p.Asp655=) c.2169C= (p.Asp723=) n.7C= c.294C= (p.Asp98=) c.210C= (p.Asp70=) n.2384C= c.2145C= (p.Asp715=) c.1503C= (p.Asp501=) n.2371C= n.2221C= n.2347C= | |
11 | g.47284952C>G | CA380337131 | MADD | c.1965C>G (p.Asp655Glu) c.2169C>G (p.Asp723Glu) n.7C>G c.294C>G (p.Asp98Glu) c.210C>G (p.Asp70Glu) n.2384C>G c.2145C>G (p.Asp715Glu) c.1503C>G (p.Asp501Glu) n.2371C>G n.2221C>G n.2347C>G | |
11 | g.47284952C>T | CA474222028 | MADD | c.1965C>T (p.Asp655=) c.2169C>T (p.Asp723=) n.7C>T c.294C>T (p.Asp98=) c.210C>T (p.Asp70=) n.2384C>T c.2145C>T (p.Asp715=) c.1503C>T (p.Asp501=) n.2371C>T n.2221C>T n.2347C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47284953T>A | CA380337135 | MADD | c.1966T>A (p.Ser656Thr) c.2170T>A (p.Ser724Thr) n.8T>A c.295T>A (p.Ser99Thr) c.211T>A (p.Ser71Thr) n.2385T>A c.2146T>A (p.Ser716Thr) c.1504T>A (p.Ser502Thr) n.2372T>A n.2222T>A n.2348T>A | |
11 | g.47284953T>C | CA380337144 | MADD | c.1966T>C (p.Ser656Pro) c.2170T>C (p.Ser724Pro) n.8T>C c.295T>C (p.Ser99Pro) c.211T>C (p.Ser71Pro) n.2385T>C c.2146T>C (p.Ser716Pro) c.1504T>C (p.Ser502Pro) n.2372T>C n.2222T>C n.2348T>C | gnomAD v4 |
11 | g.47284953T>G | CA380337149 | MADD | c.1966T>G (p.Ser656Ala) c.2170T>G (p.Ser724Ala) n.8T>G c.295T>G (p.Ser99Ala) c.211T>G (p.Ser71Ala) n.2385T>G c.2146T>G (p.Ser716Ala) c.1504T>G (p.Ser502Ala) n.2372T>G n.2222T>G n.2348T>G |