Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47285034G>ACA5974392MADDc.2047G>A (p.Val683Met)
c.2251G>A (p.Val751Met)
n.89G>A
c.376G>A (p.Val126Met)
c.292G>A (p.Val98Met)
n.2466G>A
c.2227G>A (p.Val743Met)
c.1585G>A (p.Val529Met)
n.2453G>A
n.2303G>A
n.2429G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47285034G>CCA380339043MADDc.2047G>C (p.Val683Leu)
c.2251G>C (p.Val751Leu)
n.89G>C
c.376G>C (p.Val126Leu)
c.292G>C (p.Val98Leu)
n.2466G>C
c.2227G>C (p.Val743Leu)
c.1585G>C (p.Val529Leu)
n.2453G>C
n.2303G>C
n.2429G>C
dbSNP gnomAD v2 gnomAD v4
11g.47285034G=CA1969313266MADDc.2047G= (p.Val683=)
c.2251G= (p.Val751=)
n.89G=
c.376G= (p.Val126=)
c.292G= (p.Val98=)
n.2466G=
c.2227G= (p.Val743=)
c.1585G= (p.Val529=)
n.2453G=
n.2303G=
n.2429G=
11g.47285034G>TCA380339049MADDc.2047G>T (p.Val683Leu)
c.2251G>T (p.Val751Leu)
n.89G>T
c.376G>T (p.Val126Leu)
c.292G>T (p.Val98Leu)
n.2466G>T
c.2227G>T (p.Val743Leu)
c.1585G>T (p.Val529Leu)
n.2453G>T
n.2303G>T
n.2429G>T
11g.47285035T>ACA380339053MADDc.2048T>A (p.Val683Glu)
c.2252T>A (p.Val751Glu)
n.90T>A
c.377T>A (p.Val126Glu)
c.293T>A (p.Val98Glu)
n.2467T>A
c.2228T>A (p.Val743Glu)
c.1586T>A (p.Val529Glu)
n.2454T>A
n.2304T>A
n.2430T>A
11g.47285035T>CCA380339055MADDc.2048T>C (p.Val683Ala)
c.2252T>C (p.Val751Ala)
n.90T>C
c.377T>C (p.Val126Ala)
c.293T>C (p.Val98Ala)
n.2467T>C
c.2228T>C (p.Val743Ala)
c.1586T>C (p.Val529Ala)
n.2454T>C
n.2304T>C
n.2430T>C
gnomAD v4
11g.47285035T>GCA380339056MADDc.2048T>G (p.Val683Gly)
c.2252T>G (p.Val751Gly)
n.90T>G
c.377T>G (p.Val126Gly)
c.293T>G (p.Val98Gly)
n.2467T>G
c.2228T>G (p.Val743Gly)
c.1586T>G (p.Val529Gly)
n.2454T>G
n.2304T>G
n.2430T>G
11g.47285036G>ACA474428717MADDc.2049G>A (p.Val683=)
c.2253G>A (p.Val751=)
n.91G>A
c.378G>A (p.Val126=)
c.294G>A (p.Val98=)
n.2468G>A
c.2229G>A (p.Val743=)
c.1587G>A (p.Val529=)
n.2455G>A
n.2305G>A
n.2431G>A
11g.47285036G>CCA474428718MADDc.2049G>C (p.Val683=)
c.2253G>C (p.Val751=)
n.91G>C
c.378G>C (p.Val126=)
c.294G>C (p.Val98=)
n.2468G>C
c.2229G>C (p.Val743=)
c.1587G>C (p.Val529=)
n.2455G>C
n.2305G>C
n.2431G>C
11g.47285036G=CA1969313270MADDc.2049G= (p.Val683=)
c.2253G= (p.Val751=)
n.91G=
c.378G= (p.Val126=)
c.294G= (p.Val98=)
n.2468G=
c.2229G= (p.Val743=)
c.1587G= (p.Val529=)
n.2455G=
n.2305G=
n.2431G=
11g.47285036G>TCA5974393MADDc.2049G>T (p.Val683=)
c.2253G>T (p.Val751=)
n.91G>T
c.378G>T (p.Val126=)
c.294G>T (p.Val98=)
n.2468G>T
c.2229G>T (p.Val743=)
c.1587G>T (p.Val529=)
n.2455G>T
n.2305G>T
n.2431G>T
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47285037G>ACA5974394MADDc.2050G>A (p.Asp684Asn)
c.2254G>A (p.Asp752Asn)
n.92G>A
c.379G>A (p.Asp127Asn)
c.295G>A (p.Asp99Asn)
n.2469G>A
c.2230G>A (p.Asp744Asn)
c.1588G>A (p.Asp530Asn)
n.2456G>A
n.2306G>A
n.2432G>A
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47285037G>CCA380339065MADDc.2050G>C (p.Asp684His)
c.2254G>C (p.Asp752His)
n.92G>C
c.379G>C (p.Asp127His)
c.295G>C (p.Asp99His)
n.2469G>C
c.2230G>C (p.Asp744His)
c.1588G>C (p.Asp530His)
n.2456G>C
n.2306G>C
n.2432G>C
11g.47285037G=CA1969313273MADDc.2050G= (p.Asp684=)
c.2254G= (p.Asp752=)
n.92G=
c.379G= (p.Asp127=)
c.295G= (p.Asp99=)
n.2469G=
c.2230G= (p.Asp744=)
c.1588G= (p.Asp530=)
n.2456G=
n.2306G=
n.2432G=
11g.47285037G>TCA380339068MADDc.2050G>T (p.Asp684Tyr)
c.2254G>T (p.Asp752Tyr)
n.92G>T
c.379G>T (p.Asp127Tyr)
c.295G>T (p.Asp99Tyr)
n.2469G>T
c.2230G>T (p.Asp744Tyr)
c.1588G>T (p.Asp530Tyr)
n.2456G>T
n.2306G>T
n.2432G>T
dbSNP gnomAD v2 gnomAD v4
11g.47285038A=CA1969313278MADDc.2051A= (p.Asp684=)
c.2255A= (p.Asp752=)
n.93A=
c.380A= (p.Asp127=)
c.296A= (p.Asp99=)
n.2470A=
c.2231A= (p.Asp744=)
c.1589A= (p.Asp530=)
n.2457A=
n.2307A=
n.2433A=
11g.47285038A>CCA380339077MADDc.2051A>C (p.Asp684Ala)
c.2255A>C (p.Asp752Ala)
n.93A>C
c.380A>C (p.Asp127Ala)
c.296A>C (p.Asp99Ala)
n.2470A>C
c.2231A>C (p.Asp744Ala)
c.1589A>C (p.Asp530Ala)
n.2457A>C
n.2307A>C
n.2433A>C
11g.47285038A>GCA5974395MADDc.2051A>G (p.Asp684Gly)
c.2255A>G (p.Asp752Gly)
n.93A>G
c.380A>G (p.Asp127Gly)
c.296A>G (p.Asp99Gly)
n.2470A>G
c.2231A>G (p.Asp744Gly)
c.1589A>G (p.Asp530Gly)
n.2457A>G
n.2307A>G
n.2433A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47285038A>TCA380339081MADDc.2051A>T (p.Asp684Val)
c.2255A>T (p.Asp752Val)
n.93A>T
c.380A>T (p.Asp127Val)
c.296A>T (p.Asp99Val)
n.2470A>T
c.2231A>T (p.Asp744Val)
c.1589A>T (p.Asp530Val)
n.2457A>T
n.2307A>T
n.2433A>T
11g.47285039C>ACA380339083MADDc.2052C>A (p.Asp684Glu)
c.2256C>A (p.Asp752Glu)
n.94C>A
c.381C>A (p.Asp127Glu)
c.297C>A (p.Asp99Glu)
n.2471C>A
c.2232C>A (p.Asp744Glu)
c.1590C>A (p.Asp530Glu)
n.2458C>A
n.2308C>A
n.2434C>A
11g.47285039C>GCA380339082MADDc.2052C>G (p.Asp684Glu)
c.2256C>G (p.Asp752Glu)
n.94C>G
c.381C>G (p.Asp127Glu)
c.297C>G (p.Asp99Glu)
n.2471C>G
c.2232C>G (p.Asp744Glu)
c.1590C>G (p.Asp530Glu)
n.2458C>G
n.2308C>G
n.2434C>G
gnomAD v4
11g.47285039C>TCA474428719MADDc.2052C>T (p.Asp684=)
c.2256C>T (p.Asp752=)
n.94C>T
c.381C>T (p.Asp127=)
c.297C>T (p.Asp99=)
n.2471C>T
c.2232C>T (p.Asp744=)
c.1590C>T (p.Asp530=)
n.2458C>T
n.2308C>T
n.2434C>T
11g.47285040A>CCA474428720MADDc.2053A>C (p.Arg685=)
c.2257A>C (p.Arg753=)
n.95A>C
c.382A>C (p.Arg128=)
c.298A>C (p.Arg100=)
n.2472A>C
c.2233A>C (p.Arg745=)
c.1591A>C (p.Arg531=)
n.2459A>C
n.2309A>C
n.2435A>C
11g.47285040A>GCA380339084MADDc.2053A>G (p.Arg685Gly)
c.2257A>G (p.Arg753Gly)
n.95A>G
c.382A>G (p.Arg128Gly)
c.298A>G (p.Arg100Gly)
n.2472A>G
c.2233A>G (p.Arg745Gly)
c.1591A>G (p.Arg531Gly)
n.2459A>G
n.2309A>G
n.2435A>G
11g.47285040A>TCA380339087MADDc.2053A>T (p.Arg685Ter)
c.2257A>T (p.Arg753Ter)
n.95A>T
c.382A>T (p.Arg128Ter)
c.298A>T (p.Arg100Ter)
n.2472A>T
c.2233A>T (p.Arg745Ter)
c.1591A>T (p.Arg531Ter)
n.2459A>T
n.2309A>T
n.2435A>T
11g.47285041G>ACA380339088MADDc.2054G>A (p.Arg685Lys)
c.2258G>A (p.Arg753Lys)
n.96G>A
c.383G>A (p.Arg128Lys)
c.299G>A (p.Arg100Lys)
n.2473G>A
c.2234G>A (p.Arg745Lys)
c.1592G>A (p.Arg531Lys)
n.2460G>A
n.2310G>A
n.2436G>A
11g.47285041G>CCA380339091MADDc.2054G>C (p.Arg685Thr)
c.2258G>C (p.Arg753Thr)
n.96G>C
c.383G>C (p.Arg128Thr)
c.299G>C (p.Arg100Thr)
n.2473G>C
c.2234G>C (p.Arg745Thr)
c.1592G>C (p.Arg531Thr)
n.2460G>C
n.2310G>C
n.2436G>C
gnomAD v4
11g.47285041G>TCA380339096MADDc.2054G>T (p.Arg685Ile)
c.2258G>T (p.Arg753Ile)
n.96G>T
c.383G>T (p.Arg128Ile)
c.299G>T (p.Arg100Ile)
n.2473G>T
c.2234G>T (p.Arg745Ile)
c.1592G>T (p.Arg531Ile)
n.2460G>T
n.2310G>T
n.2436G>T
11g.47285042A>CCA380339099MADDc.2055A>C (p.Arg685Ser)
c.2259A>C (p.Arg753Ser)
n.97A>C
c.384A>C (p.Arg128Ser)
c.300A>C (p.Arg100Ser)
n.2474A>C
c.2235A>C (p.Arg745Ser)
c.1593A>C (p.Arg531Ser)
n.2461A>C
n.2311A>C
n.2437A>C
11g.47285042A>GCA474428721MADDc.2055A>G (p.Arg685=)
c.2259A>G (p.Arg753=)
n.97A>G
c.384A>G (p.Arg128=)
c.300A>G (p.Arg100=)
n.2474A>G
c.2235A>G (p.Arg745=)
c.1593A>G (p.Arg531=)
n.2461A>G
n.2311A>G
n.2437A>G
11g.47285042A>TCA380339102MADDc.2055A>T (p.Arg685Ser)
c.2259A>T (p.Arg753Ser)
n.97A>T
c.384A>T (p.Arg128Ser)
c.300A>T (p.Arg100Ser)
n.2474A>T
c.2235A>T (p.Arg745Ser)
c.1593A>T (p.Arg531Ser)
n.2461A>T
n.2311A>T
n.2437A>T
11g.47285043C>ACA380339103MADDc.2056C>A (p.Arg686Ser)
c.2260C>A (p.Arg754Ser)
n.98C>A
c.385C>A (p.Arg129Ser)
c.301C>A (p.Arg101Ser)
n.2475C>A
c.2236C>A (p.Arg746Ser)
c.1594C>A (p.Arg532Ser)
n.2462C>A
n.2312C>A
n.2438C>A
gnomAD v4
11g.47285043C=CA1969313281MADDc.2056C= (p.Arg686=)
c.2260C= (p.Arg754=)
n.98C=
c.385C= (p.Arg129=)
c.301C= (p.Arg101=)
n.2475C=
c.2236C= (p.Arg746=)
c.1594C= (p.Arg532=)
n.2462C=
n.2312C=
n.2438C=
11g.47285043C>GCA380339104MADDc.2056C>G (p.Arg686Gly)
c.2260C>G (p.Arg754Gly)
n.98C>G
c.385C>G (p.Arg129Gly)
c.301C>G (p.Arg101Gly)
n.2475C>G
c.2236C>G (p.Arg746Gly)
c.1594C>G (p.Arg532Gly)
n.2462C>G
n.2312C>G
n.2438C>G
11g.47285043C>TCA5974396MADDc.2056C>T (p.Arg686Cys)
c.2260C>T (p.Arg754Cys)
n.98C>T
c.385C>T (p.Arg129Cys)
c.301C>T (p.Arg101Cys)
n.2475C>T
c.2236C>T (p.Arg746Cys)
c.1594C>T (p.Arg532Cys)
n.2462C>T
n.2312C>T
n.2438C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47285044G>ACA380339107MADDc.2057G>A (p.Arg686His)
c.2261G>A (p.Arg754His)
n.99G>A
c.386G>A (p.Arg129His)
c.302G>A (p.Arg101His)
n.2476G>A
c.2237G>A (p.Arg746His)
c.1595G>A (p.Arg532His)
n.2463G>A
n.2313G>A
n.2439G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47285044G>CCA380339110MADDc.2057G>C (p.Arg686Pro)
c.2261G>C (p.Arg754Pro)
n.99G>C
c.386G>C (p.Arg129Pro)
c.302G>C (p.Arg101Pro)
n.2476G>C
c.2237G>C (p.Arg746Pro)
c.1595G>C (p.Arg532Pro)
n.2463G>C
n.2313G>C
n.2439G>C
gnomAD v4
11g.47285044G=CA1969313282MADDc.2057G= (p.Arg686=)
c.2261G= (p.Arg754=)
n.99G=
c.386G= (p.Arg129=)
c.302G= (p.Arg101=)
n.2476G=
c.2237G= (p.Arg746=)
c.1595G= (p.Arg532=)
n.2463G=
n.2313G=
n.2439G=
11g.47285044G>TCA380339112MADDc.2057G>T (p.Arg686Leu)
c.2261G>T (p.Arg754Leu)
n.99G>T
c.386G>T (p.Arg129Leu)
c.302G>T (p.Arg101Leu)
n.2476G>T
c.2237G>T (p.Arg746Leu)
c.1595G>T (p.Arg532Leu)
n.2463G>T
n.2313G>T
n.2439G>T
11g.47285045T>ACA474428724MADDc.2058T>A (p.Arg686=)
c.2262T>A (p.Arg754=)
n.100T>A
c.387T>A (p.Arg129=)
c.303T>A (p.Arg101=)
n.2477T>A
c.2238T>A (p.Arg746=)
c.1596T>A (p.Arg532=)
n.2464T>A
n.2314T>A
n.2440T>A
11g.47285045T>CCA474428722MADDc.2058T>C (p.Arg686=)
c.2262T>C (p.Arg754=)
n.100T>C
c.387T>C (p.Arg129=)
c.303T>C (p.Arg101=)
n.2477T>C
c.2238T>C (p.Arg746=)
c.1596T>C (p.Arg532=)
n.2464T>C
n.2314T>C
n.2440T>C
11g.47285045T>GCA474428723MADDc.2058T>G (p.Arg686=)
c.2262T>G (p.Arg754=)
n.100T>G
c.387T>G (p.Arg129=)
c.303T>G (p.Arg101=)
n.2477T>G
c.2238T>G (p.Arg746=)
c.1596T>G (p.Arg532=)
n.2464T>G
n.2314T>G
n.2440T>G
11g.47285046C>ACA380339121MADDc.2059C>A (p.Gln687Lys)
c.2263C>A (p.Gln755Lys)
n.101C>A
c.388C>A (p.Gln130Lys)
c.304C>A (p.Gln102Lys)
n.2478C>A
c.2239C>A (p.Gln747Lys)
c.1597C>A (p.Gln533Lys)
n.2465C>A
n.2315C>A
n.2441C>A
11g.47285046C=CA1969313284MADDc.2059C= (p.Gln687=)
c.2263C= (p.Gln755=)
n.101C=
c.388C= (p.Gln130=)
c.304C= (p.Gln102=)
n.2478C=
c.2239C= (p.Gln747=)
c.1597C= (p.Gln533=)
n.2465C=
n.2315C=
n.2441C=
11g.47285046C>GCA5974397MADDc.2059C>G (p.Gln687Glu)
c.2263C>G (p.Gln755Glu)
n.101C>G
c.388C>G (p.Gln130Glu)
c.304C>G (p.Gln102Glu)
n.2478C>G
c.2239C>G (p.Gln747Glu)
c.1597C>G (p.Gln533Glu)
n.2465C>G
n.2315C>G
n.2441C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47285046C>TCA380339114MADDc.2059C>T (p.Gln687Ter)
c.2263C>T (p.Gln755Ter)
n.101C>T
c.388C>T (p.Gln130Ter)
c.304C>T (p.Gln102Ter)
n.2478C>T
c.2239C>T (p.Gln747Ter)
c.1597C>T (p.Gln533Ter)
n.2465C>T
n.2315C>T
n.2441C>T
11g.47285047A>CCA380339124MADDc.2060A>C (p.Gln687Pro)
c.2264A>C (p.Gln755Pro)
n.102A>C
c.389A>C (p.Gln130Pro)
c.305A>C (p.Gln102Pro)
n.2479A>C
c.2240A>C (p.Gln747Pro)
c.1598A>C (p.Gln533Pro)
n.2466A>C
n.2316A>C
n.2442A>C
11g.47285047A>GCA380339125MADDc.2060A>G (p.Gln687Arg)
c.2264A>G (p.Gln755Arg)
n.102A>G
c.389A>G (p.Gln130Arg)
c.305A>G (p.Gln102Arg)
n.2479A>G
c.2240A>G (p.Gln747Arg)
c.1598A>G (p.Gln533Arg)
n.2466A>G
n.2316A>G
n.2442A>G
11g.47285047A>TCA380339126MADDc.2060A>T (p.Gln687Leu)
c.2264A>T (p.Gln755Leu)
n.102A>T
c.389A>T (p.Gln130Leu)
c.305A>T (p.Gln102Leu)
n.2479A>T
c.2240A>T (p.Gln747Leu)
c.1598A>T (p.Gln533Leu)
n.2466A>T
n.2316A>T
n.2442A>T
11g.47285048G>ACA474428725MADDc.2061G>A (p.Gln687=)
c.2265G>A (p.Gln755=)
n.103G>A
c.390G>A (p.Gln130=)
c.306G>A (p.Gln102=)
n.2480G>A
c.2241G>A (p.Gln747=)
c.1599G>A (p.Gln533=)
n.2467G>A
n.2317G>A
n.2443G>A

Number of alleles fetched