Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47285034G>A | CA5974392 | MADD | c.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 |
11 | g.47285034G>C | CA380339043 | MADD | c.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 |
11 | g.47285034G= | CA1969313266 | MADD | c.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= | |
11 | g.47285034G>T | CA380339049 | MADD | c.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 | |
11 | g.47285035T>A | CA380339053 | MADD | c.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 | |
11 | g.47285035T>C | CA380339055 | MADD | c.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 |
11 | g.47285035T>G | CA380339056 | MADD | c.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 | |
11 | g.47285036G>A | CA474428717 | MADD | c.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 | |
11 | g.47285036G>C | CA474428718 | MADD | c.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 | |
11 | g.47285036G= | CA1969313270 | MADD | c.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= | |
11 | g.47285036G>T | CA5974393 | MADD | c.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 |
11 | g.47285037G>A | CA5974394 | MADD | c.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 |
11 | g.47285037G>C | CA380339065 | MADD | c.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 | |
11 | g.47285037G= | CA1969313273 | MADD | c.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= | |
11 | g.47285037G>T | CA380339068 | MADD | c.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 |
11 | g.47285038A= | CA1969313278 | MADD | c.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= | |
11 | g.47285038A>C | CA380339077 | MADD | c.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 | |
11 | g.47285038A>G | CA5974395 | MADD | c.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 |
11 | g.47285038A>T | CA380339081 | MADD | c.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 | |
11 | g.47285039C>A | CA380339083 | MADD | c.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 | |
11 | g.47285039C>G | CA380339082 | MADD | c.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 |
11 | g.47285039C>T | CA474428719 | MADD | c.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 | |
11 | g.47285040A>C | CA474428720 | MADD | c.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 | |
11 | g.47285040A>G | CA380339084 | MADD | c.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 | |
11 | g.47285040A>T | CA380339087 | MADD | c.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 | |
11 | g.47285041G>A | CA380339088 | MADD | c.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 | |
11 | g.47285041G>C | CA380339091 | MADD | c.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 |
11 | g.47285041G>T | CA380339096 | MADD | c.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 | |
11 | g.47285042A>C | CA380339099 | MADD | c.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 | |
11 | g.47285042A>G | CA474428721 | MADD | c.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 | |
11 | g.47285042A>T | CA380339102 | MADD | c.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 | |
11 | g.47285043C>A | CA380339103 | MADD | c.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 |
11 | g.47285043C= | CA1969313281 | MADD | c.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= | |
11 | g.47285043C>G | CA380339104 | MADD | c.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 | |
11 | g.47285043C>T | CA5974396 | MADD | c.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 |
11 | g.47285044G>A | CA380339107 | MADD | c.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 |
11 | g.47285044G>C | CA380339110 | MADD | c.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 |
11 | g.47285044G= | CA1969313282 | MADD | c.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= | |
11 | g.47285044G>T | CA380339112 | MADD | c.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 | |
11 | g.47285045T>A | CA474428724 | MADD | c.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 | |
11 | g.47285045T>C | CA474428722 | MADD | c.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 | |
11 | g.47285045T>G | CA474428723 | MADD | c.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 | |
11 | g.47285046C>A | CA380339121 | MADD | c.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 | |
11 | g.47285046C= | CA1969313284 | MADD | c.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= | |
11 | g.47285046C>G | CA5974397 | MADD | c.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 |
11 | g.47285046C>T | CA380339114 | MADD | c.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 | |
11 | g.47285047A>C | CA380339124 | MADD | c.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 | |
11 | g.47285047A>G | CA380339125 | MADD | c.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 | |
11 | g.47285047A>T | CA380339126 | MADD | c.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 | |
11 | g.47285048G>A | CA474428725 | MADD | c.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 |