| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32287580T>A | CA412665884 | DMD | c.1085A>T (p.Gln362Leu) c.6239A>T (p.Gln2080Leu) c.2207A>T (p.Gln736Leu) c.6227A>T (p.Gln2076Leu) n.336-70517A>T c.6215A>T (p.Gln2072Leu) c.5870A>T (p.Gln1957Leu) c.2216A>T (p.Gln739Leu) c.6110A>T (p.Gln2037Leu) c.6101A>T (p.Gln2034Leu) c.6116A>T (p.Gln2039Leu) c.413A>T (p.Gln138Leu) | |
| X | g.32287580T>C | CA412665877 | DMD | c.1085A>G (p.Gln362Arg) c.6239A>G (p.Gln2080Arg) c.2207A>G (p.Gln736Arg) c.6227A>G (p.Gln2076Arg) n.336-70517A>G c.6215A>G (p.Gln2072Arg) c.5870A>G (p.Gln1957Arg) c.2216A>G (p.Gln739Arg) c.6110A>G (p.Gln2037Arg) c.6101A>G (p.Gln2034Arg) c.6116A>G (p.Gln2039Arg) c.413A>G (p.Gln138Arg) | |
| X | g.32287580T>G | CA412665879 | DMD | c.1085A>C (p.Gln362Pro) c.6239A>C (p.Gln2080Pro) c.2207A>C (p.Gln736Pro) c.6227A>C (p.Gln2076Pro) n.336-70517A>C c.6215A>C (p.Gln2072Pro) c.5870A>C (p.Gln1957Pro) c.2216A>C (p.Gln739Pro) c.6110A>C (p.Gln2037Pro) c.6101A>C (p.Gln2034Pro) c.6116A>C (p.Gln2039Pro) c.413A>C (p.Gln138Pro) | |
| X | g.32287580_32287581delinsTG | CA2422736415 | DMD | c.1084_1085delinsCA (p.Gln362=) c.6238_6239delinsCA (p.Gln2080=) c.2206_2207delinsCA (p.Gln736=) c.6226_6227delinsCA (p.Gln2076=) n.336-70518_336-70517delinsCA c.6214_6215delinsCA (p.Gln2072=) c.5869_5870delinsCA (p.Gln1957=) c.2215_2216delinsCA (p.Gln739=) c.6109_6110delinsCA (p.Gln2037=) c.6100_6101delinsCA (p.Gln2034=) c.6115_6116delinsCA (p.Gln2039=) c.412_413delinsCA (p.Gln138=) | |
| X | g.32287581G>A | CA412665885 | DMD | c.1084C>T (p.Gln362Ter) c.6238C>T (p.Gln2080Ter) c.2206C>T (p.Gln736Ter) c.6226C>T (p.Gln2076Ter) n.336-70518C>T c.6214C>T (p.Gln2072Ter) c.5869C>T (p.Gln1957Ter) c.2215C>T (p.Gln739Ter) c.6109C>T (p.Gln2037Ter) c.6100C>T (p.Gln2034Ter) c.6115C>T (p.Gln2039Ter) c.412C>T (p.Gln138Ter) | ClinVar dbSNP |
| X | g.32287581G>C | CA412665886 | DMD | c.1084C>G (p.Gln362Glu) c.6238C>G (p.Gln2080Glu) c.2206C>G (p.Gln736Glu) c.6226C>G (p.Gln2076Glu) n.336-70518C>G c.6214C>G (p.Gln2072Glu) c.5869C>G (p.Gln1957Glu) c.2215C>G (p.Gln739Glu) c.6109C>G (p.Gln2037Glu) c.6100C>G (p.Gln2034Glu) c.6115C>G (p.Gln2039Glu) c.412C>G (p.Gln138Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.32287581G= | CA2422736416 | DMD | c.1084C= (p.Gln362=) c.6238C= (p.Gln2080=) c.2206C= (p.Gln736=) c.6226C= (p.Gln2076=) n.336-70518C= c.6214C= (p.Gln2072=) c.5869C= (p.Gln1957=) c.2215C= (p.Gln739=) c.6109C= (p.Gln2037=) c.6100C= (p.Gln2034=) c.6115C= (p.Gln2039=) c.412C= (p.Gln138=) | |
| X | g.32287581G>T | CA412665887 | DMD | c.1084C>A (p.Gln362Lys) c.6238C>A (p.Gln2080Lys) c.2206C>A (p.Gln736Lys) c.6226C>A (p.Gln2076Lys) n.336-70518C>A c.6214C>A (p.Gln2072Lys) c.5869C>A (p.Gln1957Lys) c.2215C>A (p.Gln739Lys) c.6109C>A (p.Gln2037Lys) c.6100C>A (p.Gln2034Lys) c.6115C>A (p.Gln2039Lys) c.412C>A (p.Gln138Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32287583del | CA275273 | DMD | c.1084del (p.Gln362SerfsTer?) c.6238del (p.Gln2080SerfsTer?) c.2206del (p.Gln736SerfsTer?) c.6226del (p.Gln2076SerfsTer?) n.336-70518del c.6214del (p.Gln2072SerfsTer?) c.5869del (p.Gln1957SerfsTer?) c.2215del (p.Gln739SerfsTer?) c.6109del (p.Gln2037SerfsTer?) c.6100del (p.Gln2034SerfsTer?) c.6115del (p.Gln2039SerfsTer?) c.412del (p.Gln138SerfsTer?) | ClinVar dbSNP |
| X | g.32287582_32287583del | CA2695232714 | DMD | c.1083_1084del (p.Gln362AlafsTer2) c.6237_6238del (p.Gln2080AlafsTer2) c.2205_2206del (p.Gln736AlafsTer2) c.6225_6226del (p.Gln2076AlafsTer2) n.336-70519_336-70518del c.6213_6214del (p.Gln2072AlafsTer2) c.5868_5869del (p.Gln1957AlafsTer2) c.2214_2215del (p.Gln739AlafsTer2) c.6108_6109del (p.Gln2037AlafsTer2) c.6099_6100del (p.Gln2034AlafsTer2) c.6114_6115del (p.Gln2039AlafsTer2) c.411_412del (p.Gln138AlafsTer2) | |
| X | g.32287582G>A | CA515860640 | DMD | c.1083C>T (p.Ser361=) c.6237C>T (p.Ser2079=) c.2205C>T (p.Ser735=) c.6225C>T (p.Ser2075=) n.336-70519C>T c.6213C>T (p.Ser2071=) c.5868C>T (p.Ser1956=) c.2214C>T (p.Ser738=) c.6108C>T (p.Ser2036=) c.6099C>T (p.Ser2033=) c.6114C>T (p.Ser2038=) c.411C>T (p.Ser137=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.32287582G>C | CA515860641 | DMD | c.1083C>G (p.Ser361=) c.6237C>G (p.Ser2079=) c.2205C>G (p.Ser735=) c.6225C>G (p.Ser2075=) n.336-70519C>G c.6213C>G (p.Ser2071=) c.5868C>G (p.Ser1956=) c.2214C>G (p.Ser738=) c.6108C>G (p.Ser2036=) c.6099C>G (p.Ser2033=) c.6114C>G (p.Ser2038=) c.411C>G (p.Ser137=) | |
| X | g.32287582G= | CA2422736417 | DMD | c.1083C= (p.Ser361=) c.6237C= (p.Ser2079=) c.2205C= (p.Ser735=) c.6225C= (p.Ser2075=) n.336-70519C= c.6213C= (p.Ser2071=) c.5868C= (p.Ser1956=) c.2214C= (p.Ser738=) c.6108C= (p.Ser2036=) c.6099C= (p.Ser2033=) c.6114C= (p.Ser2038=) c.411C= (p.Ser137=) | |
| X | g.32287582G>T | CA515860642 | DMD | c.1083C>A (p.Ser361=) c.6237C>A (p.Ser2079=) c.2205C>A (p.Ser735=) c.6225C>A (p.Ser2075=) n.336-70519C>A c.6213C>A (p.Ser2071=) c.5868C>A (p.Ser1956=) c.2214C>A (p.Ser738=) c.6108C>A (p.Ser2036=) c.6099C>A (p.Ser2033=) c.6114C>A (p.Ser2038=) c.411C>A (p.Ser137=) | |
| X | g.32287583G>A | CA412665888 | DMD | c.1082C>T (p.Ser361Phe) c.6236C>T (p.Ser2079Phe) c.2204C>T (p.Ser735Phe) c.6224C>T (p.Ser2075Phe) n.336-70520C>T c.6212C>T (p.Ser2071Phe) c.5867C>T (p.Ser1956Phe) c.2213C>T (p.Ser738Phe) c.6107C>T (p.Ser2036Phe) c.6098C>T (p.Ser2033Phe) c.6113C>T (p.Ser2038Phe) c.410C>T (p.Ser137Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.32287583G>C | CA412665889 | DMD | c.1082C>G (p.Ser361Cys) c.6236C>G (p.Ser2079Cys) c.2204C>G (p.Ser735Cys) c.6224C>G (p.Ser2075Cys) n.336-70520C>G c.6212C>G (p.Ser2071Cys) c.5867C>G (p.Ser1956Cys) c.2213C>G (p.Ser738Cys) c.6107C>G (p.Ser2036Cys) c.6098C>G (p.Ser2033Cys) c.6113C>G (p.Ser2038Cys) c.410C>G (p.Ser137Cys) | dbSNP |
| X | g.32287583G= | CA2422736418 | DMD | c.1082C= (p.Ser361=) c.6236C= (p.Ser2079=) c.2204C= (p.Ser735=) c.6224C= (p.Ser2075=) n.336-70520C= c.6212C= (p.Ser2071=) c.5867C= (p.Ser1956=) c.2213C= (p.Ser738=) c.6107C= (p.Ser2036=) c.6098C= (p.Ser2033=) c.6113C= (p.Ser2038=) c.410C= (p.Ser137=) | |
| X | g.32287583G>T | CA412665890 | DMD | c.1082C>A (p.Ser361Tyr) c.6236C>A (p.Ser2079Tyr) c.2204C>A (p.Ser735Tyr) c.6224C>A (p.Ser2075Tyr) n.336-70520C>A c.6212C>A (p.Ser2071Tyr) c.5867C>A (p.Ser1956Tyr) c.2213C>A (p.Ser738Tyr) c.6107C>A (p.Ser2036Tyr) c.6098C>A (p.Ser2033Tyr) c.6113C>A (p.Ser2038Tyr) c.410C>A (p.Ser137Tyr) | |
| X | g.32287584A= | CA2422736419 | DMD | c.1081T= (p.Ser361=) c.6235T= (p.Ser2079=) c.2203T= (p.Ser735=) c.6223T= (p.Ser2075=) n.336-70521T= c.6211T= (p.Ser2071=) c.5866T= (p.Ser1956=) c.2212T= (p.Ser738=) c.6106T= (p.Ser2036=) c.6097T= (p.Ser2033=) c.6112T= (p.Ser2038=) c.409T= (p.Ser137=) | |
| X | g.32287584A>C | CA412665891 | DMD | c.1081T>G (p.Ser361Ala) c.6235T>G (p.Ser2079Ala) c.2203T>G (p.Ser735Ala) c.6223T>G (p.Ser2075Ala) n.336-70521T>G c.6211T>G (p.Ser2071Ala) c.5866T>G (p.Ser1956Ala) c.2212T>G (p.Ser738Ala) c.6106T>G (p.Ser2036Ala) c.6097T>G (p.Ser2033Ala) c.6112T>G (p.Ser2038Ala) c.409T>G (p.Ser137Ala) | |
| X | g.32287584A>G | CA412665893 | DMD | c.1081T>C (p.Ser361Pro) c.6235T>C (p.Ser2079Pro) c.2203T>C (p.Ser735Pro) c.6223T>C (p.Ser2075Pro) n.336-70521T>C c.6211T>C (p.Ser2071Pro) c.5866T>C (p.Ser1956Pro) c.2212T>C (p.Ser738Pro) c.6106T>C (p.Ser2036Pro) c.6097T>C (p.Ser2033Pro) c.6112T>C (p.Ser2038Pro) c.409T>C (p.Ser137Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32287584A>T | CA412665896 | DMD | c.1081T>A (p.Ser361Thr) c.6235T>A (p.Ser2079Thr) c.2203T>A (p.Ser735Thr) c.6223T>A (p.Ser2075Thr) n.336-70521T>A c.6211T>A (p.Ser2071Thr) c.5866T>A (p.Ser1956Thr) c.2212T>A (p.Ser738Thr) c.6106T>A (p.Ser2036Thr) c.6097T>A (p.Ser2033Thr) c.6112T>A (p.Ser2038Thr) c.409T>A (p.Ser137Thr) | |
| X | g.32287585G>A | CA515860643 | DMD | c.1080C>T (p.Leu360=) c.6234C>T (p.Leu2078=) c.2202C>T (p.Leu734=) c.6222C>T (p.Leu2074=) n.336-70522C>T c.6210C>T (p.Leu2070=) c.5865C>T (p.Leu1955=) c.2211C>T (p.Leu737=) c.6105C>T (p.Leu2035=) c.6096C>T (p.Leu2032=) c.6111C>T (p.Leu2037=) c.408C>T (p.Leu136=) | gnomAD v4 |
| X | g.32287585G>C | CA515860644 | DMD | c.1080C>G (p.Leu360=) c.6234C>G (p.Leu2078=) c.2202C>G (p.Leu734=) c.6222C>G (p.Leu2074=) n.336-70522C>G c.6210C>G (p.Leu2070=) c.5865C>G (p.Leu1955=) c.2211C>G (p.Leu737=) c.6105C>G (p.Leu2035=) c.6096C>G (p.Leu2032=) c.6111C>G (p.Leu2037=) c.408C>G (p.Leu136=) | |
| X | g.32287585G>T | CA515860646 | DMD | c.1080C>A (p.Leu360=) c.6234C>A (p.Leu2078=) c.2202C>A (p.Leu734=) c.6222C>A (p.Leu2074=) n.336-70522C>A c.6210C>A (p.Leu2070=) c.5865C>A (p.Leu1955=) c.2211C>A (p.Leu737=) c.6105C>A (p.Leu2035=) c.6096C>A (p.Leu2032=) c.6111C>A (p.Leu2037=) c.408C>A (p.Leu136=) | |
| X | g.32287586A>C | CA412665898 | DMD | c.1079T>G (p.Leu360Arg) c.6233T>G (p.Leu2078Arg) c.2201T>G (p.Leu734Arg) c.6221T>G (p.Leu2074Arg) n.336-70523T>G c.6209T>G (p.Leu2070Arg) c.5864T>G (p.Leu1955Arg) c.2210T>G (p.Leu737Arg) c.6104T>G (p.Leu2035Arg) c.6095T>G (p.Leu2032Arg) c.6110T>G (p.Leu2037Arg) c.407T>G (p.Leu136Arg) | |
| X | g.32287586A>G | CA412665899 | DMD | c.1079T>C (p.Leu360Pro) c.6233T>C (p.Leu2078Pro) c.2201T>C (p.Leu734Pro) c.6221T>C (p.Leu2074Pro) n.336-70523T>C c.6209T>C (p.Leu2070Pro) c.5864T>C (p.Leu1955Pro) c.2210T>C (p.Leu737Pro) c.6104T>C (p.Leu2035Pro) c.6095T>C (p.Leu2032Pro) c.6110T>C (p.Leu2037Pro) c.407T>C (p.Leu136Pro) | |
| X | g.32287586A>T | CA412665900 | DMD | c.1079T>A (p.Leu360His) c.6233T>A (p.Leu2078His) c.2201T>A (p.Leu734His) c.6221T>A (p.Leu2074His) n.336-70523T>A c.6209T>A (p.Leu2070His) c.5864T>A (p.Leu1955His) c.2210T>A (p.Leu737His) c.6104T>A (p.Leu2035His) c.6095T>A (p.Leu2032His) c.6110T>A (p.Leu2037His) c.407T>A (p.Leu136His) | |
| X | g.32287587G>A | CA10603895 | DMD | c.1078C>T (p.Leu360Phe) c.6232C>T (p.Leu2078Phe) c.2200C>T (p.Leu734Phe) c.6220C>T (p.Leu2074Phe) n.336-70524C>T c.6208C>T (p.Leu2070Phe) c.5863C>T (p.Leu1955Phe) c.2209C>T (p.Leu737Phe) c.6103C>T (p.Leu2035Phe) c.6094C>T (p.Leu2032Phe) c.6109C>T (p.Leu2037Phe) c.406C>T (p.Leu136Phe) | ClinVar dbSNP gnomAD v4 |
| X | g.32287587G>C | CA412665902 | DMD | c.1078C>G (p.Leu360Val) c.6232C>G (p.Leu2078Val) c.2200C>G (p.Leu734Val) c.6220C>G (p.Leu2074Val) n.336-70524C>G c.6208C>G (p.Leu2070Val) c.5863C>G (p.Leu1955Val) c.2209C>G (p.Leu737Val) c.6103C>G (p.Leu2035Val) c.6094C>G (p.Leu2032Val) c.6109C>G (p.Leu2037Val) c.406C>G (p.Leu136Val) | |
| X | g.32287587G= | CA2422736420 | DMD | c.1078C= (p.Leu360=) c.6232C= (p.Leu2078=) c.2200C= (p.Leu734=) c.6220C= (p.Leu2074=) n.336-70524C= c.6208C= (p.Leu2070=) c.5863C= (p.Leu1955=) c.2209C= (p.Leu737=) c.6103C= (p.Leu2035=) c.6094C= (p.Leu2032=) c.6109C= (p.Leu2037=) c.406C= (p.Leu136=) | |
| X | g.32287587G>T | CA10378508 | DMD | c.1078C>A (p.Leu360Ile) c.6232C>A (p.Leu2078Ile) c.2200C>A (p.Leu734Ile) c.6220C>A (p.Leu2074Ile) n.336-70524C>A c.6208C>A (p.Leu2070Ile) c.5863C>A (p.Leu1955Ile) c.2209C>A (p.Leu737Ile) c.6103C>A (p.Leu2035Ile) c.6094C>A (p.Leu2032Ile) c.6109C>A (p.Leu2037Ile) c.406C>A (p.Leu136Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32287588A>C | CA515860652 | DMD | c.1077T>G (p.Ala359=) c.6231T>G (p.Ala2077=) c.2199T>G (p.Ala733=) c.6219T>G (p.Ala2073=) n.336-70525T>G c.6207T>G (p.Ala2069=) c.5862T>G (p.Ala1954=) c.2208T>G (p.Ala736=) c.6102T>G (p.Ala2034=) c.6093T>G (p.Ala2031=) c.6108T>G (p.Ala2036=) c.405T>G (p.Ala135=) | |
| X | g.32287588A>G | CA515860654 | DMD | c.1077T>C (p.Ala359=) c.6231T>C (p.Ala2077=) c.2199T>C (p.Ala733=) c.6219T>C (p.Ala2073=) n.336-70525T>C c.6207T>C (p.Ala2069=) c.5862T>C (p.Ala1954=) c.2208T>C (p.Ala736=) c.6102T>C (p.Ala2034=) c.6093T>C (p.Ala2031=) c.6108T>C (p.Ala2036=) c.405T>C (p.Ala135=) | |
| X | g.32287588A>T | CA515860656 | DMD | c.1077T>A (p.Ala359=) c.6231T>A (p.Ala2077=) c.2199T>A (p.Ala733=) c.6219T>A (p.Ala2073=) n.336-70525T>A c.6207T>A (p.Ala2069=) c.5862T>A (p.Ala1954=) c.2208T>A (p.Ala736=) c.6102T>A (p.Ala2034=) c.6093T>A (p.Ala2031=) c.6108T>A (p.Ala2036=) c.405T>A (p.Ala135=) | |
| X | g.32287589G>A | CA412665904 | DMD | c.1076C>T (p.Ala359Val) c.6230C>T (p.Ala2077Val) c.2198C>T (p.Ala733Val) c.6218C>T (p.Ala2073Val) n.336-70526C>T c.6206C>T (p.Ala2069Val) c.5861C>T (p.Ala1954Val) c.2207C>T (p.Ala736Val) c.6101C>T (p.Ala2034Val) c.6092C>T (p.Ala2031Val) c.6107C>T (p.Ala2036Val) c.404C>T (p.Ala135Val) | |
| X | g.32287589G>C | CA412665905 | DMD | c.1076C>G (p.Ala359Gly) c.6230C>G (p.Ala2077Gly) c.2198C>G (p.Ala733Gly) c.6218C>G (p.Ala2073Gly) n.336-70526C>G c.6206C>G (p.Ala2069Gly) c.5861C>G (p.Ala1954Gly) c.2207C>G (p.Ala736Gly) c.6101C>G (p.Ala2034Gly) c.6092C>G (p.Ala2031Gly) c.6107C>G (p.Ala2036Gly) c.404C>G (p.Ala135Gly) | |
| X | g.32287589G>T | CA412665906 | DMD | c.1076C>A (p.Ala359Asp) c.6230C>A (p.Ala2077Asp) c.2198C>A (p.Ala733Asp) c.6218C>A (p.Ala2073Asp) n.336-70526C>A c.6206C>A (p.Ala2069Asp) c.5861C>A (p.Ala1954Asp) c.2207C>A (p.Ala736Asp) c.6101C>A (p.Ala2034Asp) c.6092C>A (p.Ala2031Asp) c.6107C>A (p.Ala2036Asp) c.404C>A (p.Ala135Asp) | |
| X | g.32287590C>A | CA10378509 | DMD | c.1075G>T (p.Ala359Ser) c.6229G>T (p.Ala2077Ser) c.2197G>T (p.Ala733Ser) c.6217G>T (p.Ala2073Ser) n.336-70527G>T c.6205G>T (p.Ala2069Ser) c.5860G>T (p.Ala1954Ser) c.2206G>T (p.Ala736Ser) c.6100G>T (p.Ala2034Ser) c.6091G>T (p.Ala2031Ser) c.6106G>T (p.Ala2036Ser) c.403G>T (p.Ala135Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32287590C= | CA2422736421 | DMD | c.1075G= (p.Ala359=) c.6229G= (p.Ala2077=) c.2197G= (p.Ala733=) c.6217G= (p.Ala2073=) n.336-70527G= c.6205G= (p.Ala2069=) c.5860G= (p.Ala1954=) c.2206G= (p.Ala736=) c.6100G= (p.Ala2034=) c.6091G= (p.Ala2031=) c.6106G= (p.Ala2036=) c.403G= (p.Ala135=) | |
| X | g.32287590C>G | CA412665911 | DMD | c.1075G>C (p.Ala359Pro) c.6229G>C (p.Ala2077Pro) c.2197G>C (p.Ala733Pro) c.6217G>C (p.Ala2073Pro) n.336-70527G>C c.6205G>C (p.Ala2069Pro) c.5860G>C (p.Ala1954Pro) c.2206G>C (p.Ala736Pro) c.6100G>C (p.Ala2034Pro) c.6091G>C (p.Ala2031Pro) c.6106G>C (p.Ala2036Pro) c.403G>C (p.Ala135Pro) | |
| X | g.32287590C>T | CA412665912 | DMD | c.1075G>A (p.Ala359Thr) c.6229G>A (p.Ala2077Thr) c.2197G>A (p.Ala733Thr) c.6217G>A (p.Ala2073Thr) n.336-70527G>A c.6205G>A (p.Ala2069Thr) c.5860G>A (p.Ala1954Thr) c.2206G>A (p.Ala736Thr) c.6100G>A (p.Ala2034Thr) c.6091G>A (p.Ala2031Thr) c.6106G>A (p.Ala2036Thr) c.403G>A (p.Ala135Thr) | |
| X | g.32287591T>A | CA412665914 | DMD | c.1074A>T (p.Glu358Asp) c.6228A>T (p.Glu2076Asp) c.2196A>T (p.Glu732Asp) c.6216A>T (p.Glu2072Asp) n.336-70528A>T c.6204A>T (p.Glu2068Asp) c.5859A>T (p.Glu1953Asp) c.2205A>T (p.Glu735Asp) c.6099A>T (p.Glu2033Asp) c.6090A>T (p.Glu2030Asp) c.6105A>T (p.Glu2035Asp) c.402A>T (p.Glu134Asp) | |
| X | g.32287591T>C | CA515860662 | DMD | c.1074A>G (p.Glu358=) c.6228A>G (p.Glu2076=) c.2196A>G (p.Glu732=) c.6216A>G (p.Glu2072=) n.336-70528A>G c.6204A>G (p.Glu2068=) c.5859A>G (p.Glu1953=) c.2205A>G (p.Glu735=) c.6099A>G (p.Glu2033=) c.6090A>G (p.Glu2030=) c.6105A>G (p.Glu2035=) c.402A>G (p.Glu134=) | |
| X | g.32287591T>G | CA412665916 | DMD | c.1074A>C (p.Glu358Asp) c.6228A>C (p.Glu2076Asp) c.2196A>C (p.Glu732Asp) c.6216A>C (p.Glu2072Asp) n.336-70528A>C c.6204A>C (p.Glu2068Asp) c.5859A>C (p.Glu1953Asp) c.2205A>C (p.Glu735Asp) c.6099A>C (p.Glu2033Asp) c.6090A>C (p.Glu2030Asp) c.6105A>C (p.Glu2035Asp) c.402A>C (p.Glu134Asp) | |
| X | g.32287592T>A | CA412665918 | DMD | c.1073A>T (p.Glu358Val) c.6227A>T (p.Glu2076Val) c.2195A>T (p.Glu732Val) c.6215A>T (p.Glu2072Val) n.336-70529A>T c.6203A>T (p.Glu2068Val) c.5858A>T (p.Glu1953Val) c.2204A>T (p.Glu735Val) c.6098A>T (p.Glu2033Val) c.6089A>T (p.Glu2030Val) c.6104A>T (p.Glu2035Val) c.401A>T (p.Glu134Val) | |
| X | g.32287592T>C | CA412665919 | DMD | c.1073A>G (p.Glu358Gly) c.6227A>G (p.Glu2076Gly) c.2195A>G (p.Glu732Gly) c.6215A>G (p.Glu2072Gly) n.336-70529A>G c.6203A>G (p.Glu2068Gly) c.5858A>G (p.Glu1953Gly) c.2204A>G (p.Glu735Gly) c.6098A>G (p.Glu2033Gly) c.6089A>G (p.Glu2030Gly) c.6104A>G (p.Glu2035Gly) c.401A>G (p.Glu134Gly) | gnomAD v4 |
| X | g.32287592T>G | CA412665921 | DMD | c.1073A>C (p.Glu358Ala) c.6227A>C (p.Glu2076Ala) c.2195A>C (p.Glu732Ala) c.6215A>C (p.Glu2072Ala) n.336-70529A>C c.6203A>C (p.Glu2068Ala) c.5858A>C (p.Glu1953Ala) c.2204A>C (p.Glu735Ala) c.6098A>C (p.Glu2033Ala) c.6089A>C (p.Glu2030Ala) c.6104A>C (p.Glu2035Ala) c.401A>C (p.Glu134Ala) | |
| X | g.32287593C>A | CA267101 | DMD | c.1072G>T (p.Glu358Ter) c.6226G>T (p.Glu2076Ter) c.2194G>T (p.Glu732Ter) c.6214G>T (p.Glu2072Ter) n.336-70530G>T c.6202G>T (p.Glu2068Ter) c.5857G>T (p.Glu1953Ter) c.2203G>T (p.Glu735Ter) c.6097G>T (p.Glu2033Ter) c.6088G>T (p.Glu2030Ter) c.6103G>T (p.Glu2035Ter) c.400G>T (p.Glu134Ter) | ClinVar dbSNP |
| X | g.32287593C= | CA2422736422 | DMD | c.1072G= (p.Glu358=) c.6226G= (p.Glu2076=) c.2194G= (p.Glu732=) c.6214G= (p.Glu2072=) n.336-70530G= c.6202G= (p.Glu2068=) c.5857G= (p.Glu1953=) c.2203G= (p.Glu735=) c.6097G= (p.Glu2033=) c.6088G= (p.Glu2030=) c.6103G= (p.Glu2035=) c.400G= (p.Glu134=) |