Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47284946T>ACA474221989MADDc.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
11g.47284946T>CCA474221992MADDc.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
11g.47284946T>GCA474221991MADDc.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
11g.47284946T=CA1969313099MADDc.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=
11g.47284947G>ACA380337086MADDc.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
11g.47284947G>CCA380337087MADDc.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
11g.47284947G>TCA380337088MADDc.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
11g.47284948C>ACA380337092MADDc.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
11g.47284948C>GCA380337095MADDc.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
11g.47284948C>TCA380337099MADDc.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
11g.47284949T>ACA474222006MADDc.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
11g.47284949T>CCA474222008MADDc.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
11g.47284949T>GCA474222010MADDc.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
11g.47284949_47284950delinsTGCA1969313103MADDc.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
11g.47284950delCA1969313105MADDc.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
11g.47284950G>ACA380337103MADDc.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
11g.47284950G>CCA380337107MADDc.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
11g.47284950G>TCA380337110MADDc.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
11g.47284951A=CA1969313107MADDc.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=
11g.47284951A>CCA380337113MADDc.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
11g.47284951A>GCA380337118MADDc.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
11g.47284951A>TCA5974368MADDc.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
11g.47284952C>ACA380337128MADDc.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
11g.47284952C=CA1969313108MADDc.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=
11g.47284952C>GCA380337131MADDc.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
11g.47284952C>TCA474222028MADDc.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
11g.47284953T>ACA380337135MADDc.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
11g.47284953T>CCA380337144MADDc.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
11g.47284953T>GCA380337149MADDc.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
11g.47284954C>ACA380337151MADDc.1967C>A (p.Ser656Tyr)
c.2171C>A (p.Ser724Tyr)
n.9C>A
c.296C>A (p.Ser99Tyr)
c.212C>A (p.Ser71Tyr)
n.2386C>A
c.2147C>A (p.Ser716Tyr)
c.1505C>A (p.Ser502Tyr)
n.2373C>A
n.2223C>A
n.2349C>A
11g.47284954C=CA1969313111MADDc.1967C= (p.Ser656=)
c.2171C= (p.Ser724=)
n.9C=
c.296C= (p.Ser99=)
c.212C= (p.Ser71=)
n.2386C=
c.2147C= (p.Ser716=)
c.1505C= (p.Ser502=)
n.2373C=
n.2223C=
n.2349C=
11g.47284954C>GCA5974369MADDc.1967C>G (p.Ser656Cys)
c.2171C>G (p.Ser724Cys)
n.9C>G
c.296C>G (p.Ser99Cys)
c.212C>G (p.Ser71Cys)
n.2386C>G
c.2147C>G (p.Ser716Cys)
c.1505C>G (p.Ser502Cys)
n.2373C>G
n.2223C>G
n.2349C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47284954C>TCA380337155MADDc.1967C>T (p.Ser656Phe)
c.2171C>T (p.Ser724Phe)
n.9C>T
c.296C>T (p.Ser99Phe)
c.212C>T (p.Ser71Phe)
n.2386C>T
c.2147C>T (p.Ser716Phe)
c.1505C>T (p.Ser502Phe)
n.2373C>T
n.2223C>T
n.2349C>T
11g.47284955T>ACA474222046MADDc.1968T>A (p.Ser656=)
c.2172T>A (p.Ser724=)
n.10T>A
c.297T>A (p.Ser99=)
c.213T>A (p.Ser71=)
n.2387T>A
c.2148T>A (p.Ser716=)
c.1506T>A (p.Ser502=)
n.2374T>A
n.2224T>A
n.2350T>A
11g.47284955T>CCA474222047MADDc.1968T>C (p.Ser656=)
c.2172T>C (p.Ser724=)
n.10T>C
c.297T>C (p.Ser99=)
c.213T>C (p.Ser71=)
n.2387T>C
c.2148T>C (p.Ser716=)
c.1506T>C (p.Ser502=)
n.2374T>C
n.2224T>C
n.2350T>C
11g.47284955T>GCA474222050MADDc.1968T>G (p.Ser656=)
c.2172T>G (p.Ser724=)
n.10T>G
c.297T>G (p.Ser99=)
c.213T>G (p.Ser71=)
n.2387T>G
c.2148T>G (p.Ser716=)
c.1506T>G (p.Ser502=)
n.2374T>G
n.2224T>G
n.2350T>G
11g.47284956A=CA1969313113MADDc.1969A= (p.Thr657=)
c.2173A= (p.Thr725=)
n.11A=
c.298A= (p.Thr100=)
c.214A= (p.Thr72=)
n.2388A=
c.2149A= (p.Thr717=)
c.1507A= (p.Thr503=)
n.2375A=
n.2225A=
n.2351A=
11g.47284956A>CCA380337158MADDc.1969A>C (p.Thr657Pro)
c.2173A>C (p.Thr725Pro)
n.11A>C
c.298A>C (p.Thr100Pro)
c.214A>C (p.Thr72Pro)
n.2388A>C
c.2149A>C (p.Thr717Pro)
c.1507A>C (p.Thr503Pro)
n.2375A>C
n.2225A>C
n.2351A>C
11g.47284956A>GCA5974370MADDc.1969A>G (p.Thr657Ala)
c.2173A>G (p.Thr725Ala)
n.11A>G
c.298A>G (p.Thr100Ala)
c.214A>G (p.Thr72Ala)
n.2388A>G
c.2149A>G (p.Thr717Ala)
c.1507A>G (p.Thr503Ala)
n.2375A>G
n.2225A>G
n.2351A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47284956A>TCA380337168MADDc.1969A>T (p.Thr657Ser)
c.2173A>T (p.Thr725Ser)
n.11A>T
c.298A>T (p.Thr100Ser)
c.214A>T (p.Thr72Ser)
n.2388A>T
c.2149A>T (p.Thr717Ser)
c.1507A>T (p.Thr503Ser)
n.2375A>T
n.2225A>T
n.2351A>T
 dbSNP gnomAD v2 gnomAD v4
11g.47284957C>ACA380337180MADDc.1970C>A (p.Thr657Lys)
c.2174C>A (p.Thr725Lys)
n.12C>A
c.299C>A (p.Thr100Lys)
c.215C>A (p.Thr72Lys)
n.2389C>A
c.2150C>A (p.Thr717Lys)
c.1508C>A (p.Thr503Lys)
n.2376C>A
n.2226C>A
n.2352C>A
11g.47284957C=CA1969313117MADDc.1970C= (p.Thr657=)
c.2174C= (p.Thr725=)
n.12C=
c.299C= (p.Thr100=)
c.215C= (p.Thr72=)
n.2389C=
c.2150C= (p.Thr717=)
c.1508C= (p.Thr503=)
n.2376C=
n.2226C=
n.2352C=
11g.47284957C>GCA380337186MADDc.1970C>G (p.Thr657Arg)
c.2174C>G (p.Thr725Arg)
n.12C>G
c.299C>G (p.Thr100Arg)
c.215C>G (p.Thr72Arg)
n.2389C>G
c.2150C>G (p.Thr717Arg)
c.1508C>G (p.Thr503Arg)
n.2376C>G
n.2226C>G
n.2352C>G
11g.47284957C>TCA5974371MADDc.1970C>T (p.Thr657Met)
c.2174C>T (p.Thr725Met)
n.12C>T
c.299C>T (p.Thr100Met)
c.215C>T (p.Thr72Met)
n.2389C>T
c.2150C>T (p.Thr717Met)
c.1508C>T (p.Thr503Met)
n.2376C>T
n.2226C>T
n.2352C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47284958G>ACA5974372MADDc.1971G>A (p.Thr657=)
c.2175G>A (p.Thr725=)
n.13G>A
c.300G>A (p.Thr100=)
c.216G>A (p.Thr72=)
n.2390G>A
c.2151G>A (p.Thr717=)
c.1509G>A (p.Thr503=)
n.2377G>A
n.2227G>A
n.2353G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47284958G>CCA474222069MADDc.1971G>C (p.Thr657=)
c.2175G>C (p.Thr725=)
n.13G>C
c.300G>C (p.Thr100=)
c.216G>C (p.Thr72=)
n.2390G>C
c.2151G>C (p.Thr717=)
c.1509G>C (p.Thr503=)
n.2377G>C
n.2227G>C
n.2353G>C
11g.47284958G=CA1969313121MADDc.1971G= (p.Thr657=)
c.2175G= (p.Thr725=)
n.13G=
c.300G= (p.Thr100=)
c.216G= (p.Thr72=)
n.2390G=
c.2151G= (p.Thr717=)
c.1509G= (p.Thr503=)
n.2377G=
n.2227G=
n.2353G=
11g.47284958G>TCA474222071MADDc.1971G>T (p.Thr657=)
c.2175G>T (p.Thr725=)
n.13G>T
c.300G>T (p.Thr100=)
c.216G>T (p.Thr72=)
n.2390G>T
c.2151G>T (p.Thr717=)
c.1509G>T (p.Thr503=)
n.2377G>T
n.2227G>T
n.2353G>T
11g.47284959G>ACA5974373MADDc.1972G>A (p.Glu658Lys)
c.2176G>A (p.Glu726Lys)
n.14G>A
c.301G>A (p.Glu101Lys)
c.217G>A (p.Glu73Lys)
n.2391G>A
c.2152G>A (p.Glu718Lys)
c.1510G>A (p.Glu504Lys)
n.2378G>A
n.2228G>A
n.2354G>A
 dbSNP ExAC gnomAD v4
11g.47284959G>CCA380337199MADDc.1972G>C (p.Glu658Gln)
c.2176G>C (p.Glu726Gln)
n.14G>C
c.301G>C (p.Glu101Gln)
c.217G>C (p.Glu73Gln)
n.2391G>C
c.2152G>C (p.Glu718Gln)
c.1510G>C (p.Glu504Gln)
n.2378G>C
n.2228G>C
n.2354G>C

Number of alleles fetched