Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.32287682_32287684del | CA2579579366 | DMD | c.985_987del (p.Gln329del) c.6139_6141del (p.Gln2047del) c.2107_2109del (p.Gln703del) c.6127_6129del (p.Gln2043del) n.336-70617_336-70615del c.6115_6117del (p.Gln2039del) c.5770_5772del (p.Gln1924del) c.2116_2118del (p.Gln706del) c.6010_6012del (p.Gln2004del) c.6001_6003del (p.Gln2001del) c.6016_6018del (p.Gln2006del) c.313_315del (p.Gln105del) | |
X | g.32287680G>A | CA10654749 | DMD | c.985C>T (p.Gln329Ter) c.6139C>T (p.Gln2047Ter) c.2107C>T (p.Gln703Ter) c.6127C>T (p.Gln2043Ter) n.336-70617C>T c.6115C>T (p.Gln2039Ter) c.5770C>T (p.Gln1924Ter) c.2116C>T (p.Gln706Ter) c.6010C>T (p.Gln2004Ter) c.6001C>T (p.Gln2001Ter) c.6016C>T (p.Gln2006Ter) c.313C>T (p.Gln105Ter) | ClinVar dbSNP |
X | g.32287680G>C | CA412666540 | DMD | c.985C>G (p.Gln329Glu) c.6139C>G (p.Gln2047Glu) c.2107C>G (p.Gln703Glu) c.6127C>G (p.Gln2043Glu) n.336-70617C>G c.6115C>G (p.Gln2039Glu) c.5770C>G (p.Gln1924Glu) c.2116C>G (p.Gln706Glu) c.6010C>G (p.Gln2004Glu) c.6001C>G (p.Gln2001Glu) c.6016C>G (p.Gln2006Glu) c.313C>G (p.Gln105Glu) | |
X | g.32287680G= | CA2422736462 | DMD | c.985C= (p.Gln329=) c.6139C= (p.Gln2047=) c.2107C= (p.Gln703=) c.6127C= (p.Gln2043=) n.336-70617C= c.6115C= (p.Gln2039=) c.5770C= (p.Gln1924=) c.2116C= (p.Gln706=) c.6010C= (p.Gln2004=) c.6001C= (p.Gln2001=) c.6016C= (p.Gln2006=) c.313C= (p.Gln105=) | |
X | g.32287680G>T | CA412666535 | DMD | c.985C>A (p.Gln329Lys) c.6139C>A (p.Gln2047Lys) c.2107C>A (p.Gln703Lys) c.6127C>A (p.Gln2043Lys) n.336-70617C>A c.6115C>A (p.Gln2039Lys) c.5770C>A (p.Gln1924Lys) c.2116C>A (p.Gln706Lys) c.6010C>A (p.Gln2004Lys) c.6001C>A (p.Gln2001Lys) c.6016C>A (p.Gln2006Lys) c.313C>A (p.Gln105Lys) | |
X | g.32287681T>A | CA412666543 | DMD | c.984A>T (p.Gln328His) c.6138A>T (p.Gln2046His) c.2106A>T (p.Gln702His) c.6126A>T (p.Gln2042His) n.336-70618A>T c.6114A>T (p.Gln2038His) c.5769A>T (p.Gln1923His) c.2115A>T (p.Gln705His) c.6009A>T (p.Gln2003His) c.6000A>T (p.Gln2000His) c.6015A>T (p.Gln2005His) c.312A>T (p.Gln104His) | dbSNP gnomAD v4 |
X | g.32287681T>C | CA10378524 | DMD | c.984A>G (p.Gln328=) c.6138A>G (p.Gln2046=) c.2106A>G (p.Gln702=) c.6126A>G (p.Gln2042=) n.336-70618A>G c.6114A>G (p.Gln2038=) c.5769A>G (p.Gln1923=) c.2115A>G (p.Gln705=) c.6009A>G (p.Gln2003=) c.6000A>G (p.Gln2000=) c.6015A>G (p.Gln2005=) c.312A>G (p.Gln104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32287681T>G | CA412666545 | DMD | c.984A>C (p.Gln328His) c.6138A>C (p.Gln2046His) c.2106A>C (p.Gln702His) c.6126A>C (p.Gln2042His) n.336-70618A>C c.6114A>C (p.Gln2038His) c.5769A>C (p.Gln1923His) c.2115A>C (p.Gln705His) c.6009A>C (p.Gln2003His) c.6000A>C (p.Gln2000His) c.6015A>C (p.Gln2005His) c.312A>C (p.Gln104His) | |
X | g.32287681T= | CA2422736463 | DMD | c.984A= (p.Gln328=) c.6138A= (p.Gln2046=) c.2106A= (p.Gln702=) c.6126A= (p.Gln2042=) n.336-70618A= c.6114A= (p.Gln2038=) c.5769A= (p.Gln1923=) c.2115A= (p.Gln705=) c.6009A= (p.Gln2003=) c.6000A= (p.Gln2000=) c.6015A= (p.Gln2005=) c.312A= (p.Gln104=) | |
X | g.32287682T>A | CA412666559 | DMD | c.983A>T (p.Gln328Leu) c.6137A>T (p.Gln2046Leu) c.2105A>T (p.Gln702Leu) c.6125A>T (p.Gln2042Leu) n.336-70619A>T c.6113A>T (p.Gln2038Leu) c.5768A>T (p.Gln1923Leu) c.2114A>T (p.Gln705Leu) c.6008A>T (p.Gln2003Leu) c.5999A>T (p.Gln2000Leu) c.6014A>T (p.Gln2005Leu) c.311A>T (p.Gln104Leu) | |
X | g.32287682T>C | CA412666567 | DMD | c.983A>G (p.Gln328Arg) c.6137A>G (p.Gln2046Arg) c.2105A>G (p.Gln702Arg) c.6125A>G (p.Gln2042Arg) n.336-70619A>G c.6113A>G (p.Gln2038Arg) c.5768A>G (p.Gln1923Arg) c.2114A>G (p.Gln705Arg) c.6008A>G (p.Gln2003Arg) c.5999A>G (p.Gln2000Arg) c.6014A>G (p.Gln2005Arg) c.311A>G (p.Gln104Arg) | |
X | g.32287682T>G | CA412666565 | DMD | c.983A>C (p.Gln328Pro) c.6137A>C (p.Gln2046Pro) c.2105A>C (p.Gln702Pro) c.6125A>C (p.Gln2042Pro) n.336-70619A>C c.6113A>C (p.Gln2038Pro) c.5768A>C (p.Gln1923Pro) c.2114A>C (p.Gln705Pro) c.6008A>C (p.Gln2003Pro) c.5999A>C (p.Gln2000Pro) c.6014A>C (p.Gln2005Pro) c.311A>C (p.Gln104Pro) | |
X | g.32287683G>A | CA412666577 | DMD | c.982C>T (p.Gln328Ter) c.6136C>T (p.Gln2046Ter) c.2104C>T (p.Gln702Ter) c.6124C>T (p.Gln2042Ter) n.336-70620C>T c.6112C>T (p.Gln2038Ter) c.5767C>T (p.Gln1923Ter) c.2113C>T (p.Gln705Ter) c.6007C>T (p.Gln2003Ter) c.5998C>T (p.Gln2000Ter) c.6013C>T (p.Gln2005Ter) c.310C>T (p.Gln104Ter) | ClinVar dbSNP |
X | g.32287683G>C | CA412666579 | DMD | c.982C>G (p.Gln328Glu) c.6136C>G (p.Gln2046Glu) c.2104C>G (p.Gln702Glu) c.6124C>G (p.Gln2042Glu) n.336-70620C>G c.6112C>G (p.Gln2038Glu) c.5767C>G (p.Gln1923Glu) c.2113C>G (p.Gln705Glu) c.6007C>G (p.Gln2003Glu) c.5998C>G (p.Gln2000Glu) c.6013C>G (p.Gln2005Glu) c.310C>G (p.Gln104Glu) | |
X | g.32287683G>T | CA412666582 | DMD | c.982C>A (p.Gln328Lys) c.6136C>A (p.Gln2046Lys) c.2104C>A (p.Gln702Lys) c.6124C>A (p.Gln2042Lys) n.336-70620C>A c.6112C>A (p.Gln2038Lys) c.5767C>A (p.Gln1923Lys) c.2113C>A (p.Gln705Lys) c.6007C>A (p.Gln2003Lys) c.5998C>A (p.Gln2000Lys) c.6013C>A (p.Gln2005Lys) c.310C>A (p.Gln104Lys) | |
X | g.32287684T>A | CA515860919 | DMD | c.981A>T (p.Leu327=) c.6135A>T (p.Leu2045=) c.2103A>T (p.Leu701=) c.6123A>T (p.Leu2041=) n.336-70621A>T c.6111A>T (p.Leu2037=) c.5766A>T (p.Leu1922=) c.2112A>T (p.Leu704=) c.6006A>T (p.Leu2002=) c.5997A>T (p.Leu1999=) c.6012A>T (p.Leu2004=) c.309A>T (p.Leu103=) | |
X | g.32287684T>C | CA10378525 | DMD | c.981A>G (p.Leu327=) c.6135A>G (p.Leu2045=) c.2103A>G (p.Leu701=) c.6123A>G (p.Leu2041=) n.336-70621A>G c.6111A>G (p.Leu2037=) c.5766A>G (p.Leu1922=) c.2112A>G (p.Leu704=) c.6006A>G (p.Leu2002=) c.5997A>G (p.Leu1999=) c.6012A>G (p.Leu2004=) c.309A>G (p.Leu103=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32287684T>G | CA515860922 | DMD | c.981A>C (p.Leu327=) c.6135A>C (p.Leu2045=) c.2103A>C (p.Leu701=) c.6123A>C (p.Leu2041=) n.336-70621A>C c.6111A>C (p.Leu2037=) c.5766A>C (p.Leu1922=) c.2112A>C (p.Leu704=) c.6006A>C (p.Leu2002=) c.5997A>C (p.Leu1999=) c.6012A>C (p.Leu2004=) c.309A>C (p.Leu103=) | |
X | g.32287684T= | CA2422736464 | DMD | c.981A= (p.Leu327=) c.6135A= (p.Leu2045=) c.2103A= (p.Leu701=) c.6123A= (p.Leu2041=) n.336-70621A= c.6111A= (p.Leu2037=) c.5766A= (p.Leu1922=) c.2112A= (p.Leu704=) c.6006A= (p.Leu2002=) c.5997A= (p.Leu1999=) c.6012A= (p.Leu2004=) c.309A= (p.Leu103=) | |
X | g.32287685A>C | CA412666585 | DMD | c.980T>G (p.Leu327Arg) c.6134T>G (p.Leu2045Arg) c.2102T>G (p.Leu701Arg) c.6122T>G (p.Leu2041Arg) n.336-70622T>G c.6110T>G (p.Leu2037Arg) c.5765T>G (p.Leu1922Arg) c.2111T>G (p.Leu704Arg) c.6005T>G (p.Leu2002Arg) c.5996T>G (p.Leu1999Arg) c.6011T>G (p.Leu2004Arg) c.308T>G (p.Leu103Arg) | |
X | g.32287685A>G | CA412666587 | DMD | c.980T>C (p.Leu327Pro) c.6134T>C (p.Leu2045Pro) c.2102T>C (p.Leu701Pro) c.6122T>C (p.Leu2041Pro) n.336-70622T>C c.6110T>C (p.Leu2037Pro) c.5765T>C (p.Leu1922Pro) c.2111T>C (p.Leu704Pro) c.6005T>C (p.Leu2002Pro) c.5996T>C (p.Leu1999Pro) c.6011T>C (p.Leu2004Pro) c.308T>C (p.Leu103Pro) | |
X | g.32287685A>T | CA412666590 | DMD | c.980T>A (p.Leu327Gln) c.6134T>A (p.Leu2045Gln) c.2102T>A (p.Leu701Gln) c.6122T>A (p.Leu2041Gln) n.336-70622T>A c.6110T>A (p.Leu2037Gln) c.5765T>A (p.Leu1922Gln) c.2111T>A (p.Leu704Gln) c.6005T>A (p.Leu2002Gln) c.5996T>A (p.Leu1999Gln) c.6011T>A (p.Leu2004Gln) c.308T>A (p.Leu103Gln) | |
X | g.32287686G>A | CA515860927 | DMD | c.979C>T (p.Leu327=) c.6133C>T (p.Leu2045=) c.2101C>T (p.Leu701=) c.6121C>T (p.Leu2041=) n.336-70623C>T c.6109C>T (p.Leu2037=) c.5764C>T (p.Leu1922=) c.2110C>T (p.Leu704=) c.6004C>T (p.Leu2002=) c.5995C>T (p.Leu1999=) c.6010C>T (p.Leu2004=) c.307C>T (p.Leu103=) | |
X | g.32287686G>C | CA412666593 | DMD | c.979C>G (p.Leu327Val) c.6133C>G (p.Leu2045Val) c.2101C>G (p.Leu701Val) c.6121C>G (p.Leu2041Val) n.336-70623C>G c.6109C>G (p.Leu2037Val) c.5764C>G (p.Leu1922Val) c.2110C>G (p.Leu704Val) c.6004C>G (p.Leu2002Val) c.5995C>G (p.Leu1999Val) c.6010C>G (p.Leu2004Val) c.307C>G (p.Leu103Val) | |
X | g.32287686G>T | CA412666598 | DMD | c.979C>A (p.Leu327Ile) c.6133C>A (p.Leu2045Ile) c.2101C>A (p.Leu701Ile) c.6121C>A (p.Leu2041Ile) n.336-70623C>A c.6109C>A (p.Leu2037Ile) c.5764C>A (p.Leu1922Ile) c.2110C>A (p.Leu704Ile) c.6004C>A (p.Leu2002Ile) c.5995C>A (p.Leu1999Ile) c.6010C>A (p.Leu2004Ile) c.307C>A (p.Leu103Ile) | |
X | g.32287686_32287689dup | CA2573332566 | DMD | c.976_979dup (p.Leu327GlnfsTer10) c.6130_6133dup (p.Leu2045GlnfsTer10) c.2098_2101dup (p.Leu701GlnfsTer10) c.6118_6121dup (p.Leu2041GlnfsTer10) n.336-70626_336-70623dup c.6106_6109dup (p.Leu2037GlnfsTer10) c.5761_5764dup (p.Leu1922GlnfsTer10) c.2107_2110dup (p.Leu704GlnfsTer10) c.6001_6004dup (p.Leu2002GlnfsTer10) c.5992_5995dup (p.Leu1999GlnfsTer10) c.6007_6010dup (p.Leu2004GlnfsTer10) c.304_307dup (p.Leu103GlnfsTer10) | |
X | g.32287687A= | CA2422736465 | DMD | c.978T= (p.Ser326=) c.6132T= (p.Ser2044=) c.2100T= (p.Ser700=) c.6120T= (p.Ser2040=) n.336-70624T= c.6108T= (p.Ser2036=) c.5763T= (p.Ser1921=) c.2109T= (p.Ser703=) c.6003T= (p.Ser2001=) c.5994T= (p.Ser1998=) c.6009T= (p.Ser2003=) c.306T= (p.Ser102=) | |
X | g.32287687A>C | CA412666600 | DMD | c.978T>G (p.Ser326Arg) c.6132T>G (p.Ser2044Arg) c.2100T>G (p.Ser700Arg) c.6120T>G (p.Ser2040Arg) n.336-70624T>G c.6108T>G (p.Ser2036Arg) c.5763T>G (p.Ser1921Arg) c.2109T>G (p.Ser703Arg) c.6003T>G (p.Ser2001Arg) c.5994T>G (p.Ser1998Arg) c.6009T>G (p.Ser2003Arg) c.306T>G (p.Ser102Arg) | |
X | g.32287687A>G | CA10378526 | DMD | c.978T>C (p.Ser326=) c.6132T>C (p.Ser2044=) c.2100T>C (p.Ser700=) c.6120T>C (p.Ser2040=) n.336-70624T>C c.6108T>C (p.Ser2036=) c.5763T>C (p.Ser1921=) c.2109T>C (p.Ser703=) c.6003T>C (p.Ser2001=) c.5994T>C (p.Ser1998=) c.6009T>C (p.Ser2003=) c.306T>C (p.Ser102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32287687A>T | CA412666602 | DMD | c.978T>A (p.Ser326Arg) c.6132T>A (p.Ser2044Arg) c.2100T>A (p.Ser700Arg) c.6120T>A (p.Ser2040Arg) n.336-70624T>A c.6108T>A (p.Ser2036Arg) c.5763T>A (p.Ser1921Arg) c.2109T>A (p.Ser703Arg) c.6003T>A (p.Ser2001Arg) c.5994T>A (p.Ser1998Arg) c.6009T>A (p.Ser2003Arg) c.306T>A (p.Ser102Arg) | |
X | g.32287687_32287691delinsACTAT | CA2422736466 | DMD | c.974_978delinsATAGT (p.Asp325=) c.6128_6132delinsATAGT (p.Asp2043=) c.2096_2100delinsATAGT (p.Asp699=) c.6116_6120delinsATAGT (p.Asp2039=) n.336-70628_336-70624delinsATAGT c.6104_6108delinsATAGT (p.Asp2035=) c.5759_5763delinsATAGT (p.Asp1920=) c.2105_2109delinsATAGT (p.Asp702=) c.5999_6003delinsATAGT (p.Asp2000=) c.5990_5994delinsATAGT (p.Asp1997=) c.6005_6009delinsATAGT (p.Asp2002=) c.302_306delinsATAGT (p.Asp101=) | |
X | g.32287688C>A | CA412666605 | DMD | c.977G>T (p.Ser326Ile) c.6131G>T (p.Ser2044Ile) c.2099G>T (p.Ser700Ile) c.6119G>T (p.Ser2040Ile) n.336-70625G>T c.6107G>T (p.Ser2036Ile) c.5762G>T (p.Ser1921Ile) c.2108G>T (p.Ser703Ile) c.6002G>T (p.Ser2001Ile) c.5993G>T (p.Ser1998Ile) c.6008G>T (p.Ser2003Ile) c.305G>T (p.Ser102Ile) | |
X | g.32287688C>G | CA412666607 | DMD | c.977G>C (p.Ser326Thr) c.6131G>C (p.Ser2044Thr) c.2099G>C (p.Ser700Thr) c.6119G>C (p.Ser2040Thr) n.336-70625G>C c.6107G>C (p.Ser2036Thr) c.5762G>C (p.Ser1921Thr) c.2108G>C (p.Ser703Thr) c.6002G>C (p.Ser2001Thr) c.5993G>C (p.Ser1998Thr) c.6008G>C (p.Ser2003Thr) c.305G>C (p.Ser102Thr) | |
X | g.32287688C>T | CA412666606 | DMD | c.977G>A (p.Ser326Asn) c.6131G>A (p.Ser2044Asn) c.2099G>A (p.Ser700Asn) c.6119G>A (p.Ser2040Asn) n.336-70625G>A c.6107G>A (p.Ser2036Asn) c.5762G>A (p.Ser1921Asn) c.2108G>A (p.Ser703Asn) c.6002G>A (p.Ser2001Asn) c.5993G>A (p.Ser1998Asn) c.6008G>A (p.Ser2003Asn) c.305G>A (p.Ser102Asn) | |
X | g.32287690_32287693del | CA347585 | DMD | c.974_977del (p.Asp325ValfsTer29) c.6128_6131del (p.Asp2043ValfsTer29) c.2096_2099del (p.Asp699ValfsTer29) c.6116_6119del (p.Asp2039ValfsTer29) n.336-70628_336-70625del c.6104_6107del (p.Asp2035ValfsTer29) c.5759_5762del (p.Asp1920ValfsTer29) c.2105_2108del (p.Asp702ValfsTer29) c.5999_6002del (p.Asp2000ValfsTer29) c.5990_5993del (p.Asp1997ValfsTer29) c.6005_6008del (p.Asp2002ValfsTer29) c.302_305del (p.Asp101ValfsTer29) | ClinVar dbSNP |
X | g.32287689T>A | CA412666608 | DMD | c.976A>T (p.Ser326Cys) c.6130A>T (p.Ser2044Cys) c.2098A>T (p.Ser700Cys) c.6118A>T (p.Ser2040Cys) n.336-70626A>T c.6106A>T (p.Ser2036Cys) c.5761A>T (p.Ser1921Cys) c.2107A>T (p.Ser703Cys) c.6001A>T (p.Ser2001Cys) c.5992A>T (p.Ser1998Cys) c.6007A>T (p.Ser2003Cys) c.304A>T (p.Ser102Cys) | |
X | g.32287689T>C | CA412666610 | DMD | c.976A>G (p.Ser326Gly) c.6130A>G (p.Ser2044Gly) c.2098A>G (p.Ser700Gly) c.6118A>G (p.Ser2040Gly) n.336-70626A>G c.6106A>G (p.Ser2036Gly) c.5761A>G (p.Ser1921Gly) c.2107A>G (p.Ser703Gly) c.6001A>G (p.Ser2001Gly) c.5992A>G (p.Ser1998Gly) c.6007A>G (p.Ser2003Gly) c.304A>G (p.Ser102Gly) | gnomAD v4 |
X | g.32287689T>G | CA412666612 | DMD | c.976A>C (p.Ser326Arg) c.6130A>C (p.Ser2044Arg) c.2098A>C (p.Ser700Arg) c.6118A>C (p.Ser2040Arg) n.336-70626A>C c.6106A>C (p.Ser2036Arg) c.5761A>C (p.Ser1921Arg) c.2107A>C (p.Ser703Arg) c.6001A>C (p.Ser2001Arg) c.5992A>C (p.Ser1998Arg) c.6007A>C (p.Ser2003Arg) c.304A>C (p.Ser102Arg) | |
X | g.32287690A>C | CA412666615 | DMD | c.975T>G (p.Asp325Glu) c.6129T>G (p.Asp2043Glu) c.2097T>G (p.Asp699Glu) c.6117T>G (p.Asp2039Glu) n.336-70627T>G c.6105T>G (p.Asp2035Glu) c.5760T>G (p.Asp1920Glu) c.2106T>G (p.Asp702Glu) c.6000T>G (p.Asp2000Glu) c.5991T>G (p.Asp1997Glu) c.6006T>G (p.Asp2002Glu) c.303T>G (p.Asp101Glu) | |
X | g.32287690A>G | CA515860937 | DMD | c.975T>C (p.Asp325=) c.6129T>C (p.Asp2043=) c.2097T>C (p.Asp699=) c.6117T>C (p.Asp2039=) n.336-70627T>C c.6105T>C (p.Asp2035=) c.5760T>C (p.Asp1920=) c.2106T>C (p.Asp702=) c.6000T>C (p.Asp2000=) c.5991T>C (p.Asp1997=) c.6006T>C (p.Asp2002=) c.303T>C (p.Asp101=) | |
X | g.32287690A>T | CA412666617 | DMD | c.975T>A (p.Asp325Glu) c.6129T>A (p.Asp2043Glu) c.2097T>A (p.Asp699Glu) c.6117T>A (p.Asp2039Glu) n.336-70627T>A c.6105T>A (p.Asp2035Glu) c.5760T>A (p.Asp1920Glu) c.2106T>A (p.Asp702Glu) c.6000T>A (p.Asp2000Glu) c.5991T>A (p.Asp1997Glu) c.6006T>A (p.Asp2002Glu) c.303T>A (p.Asp101Glu) | |
X | g.32287691T>A | CA412666618 | DMD | c.974A>T (p.Asp325Val) c.6128A>T (p.Asp2043Val) c.2096A>T (p.Asp699Val) c.6116A>T (p.Asp2039Val) n.336-70628A>T c.6104A>T (p.Asp2035Val) c.5759A>T (p.Asp1920Val) c.2105A>T (p.Asp702Val) c.5999A>T (p.Asp2000Val) c.5990A>T (p.Asp1997Val) c.6005A>T (p.Asp2002Val) c.302A>T (p.Asp101Val) | |
X | g.32287691T>C | CA10378527 | DMD | c.974A>G (p.Asp325Gly) c.6128A>G (p.Asp2043Gly) c.2096A>G (p.Asp699Gly) c.6116A>G (p.Asp2039Gly) n.336-70628A>G c.6104A>G (p.Asp2035Gly) c.5759A>G (p.Asp1920Gly) c.2105A>G (p.Asp702Gly) c.5999A>G (p.Asp2000Gly) c.5990A>G (p.Asp1997Gly) c.6005A>G (p.Asp2002Gly) c.302A>G (p.Asp101Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32287691T>G | CA412666619 | DMD | c.974A>C (p.Asp325Ala) c.6128A>C (p.Asp2043Ala) c.2096A>C (p.Asp699Ala) c.6116A>C (p.Asp2039Ala) n.336-70628A>C c.6104A>C (p.Asp2035Ala) c.5759A>C (p.Asp1920Ala) c.2105A>C (p.Asp702Ala) c.5999A>C (p.Asp2000Ala) c.5990A>C (p.Asp1997Ala) c.6005A>C (p.Asp2002Ala) c.302A>C (p.Asp101Ala) | |
X | g.32287691T= | CA2422736467 | DMD | c.974A= (p.Asp325=) c.6128A= (p.Asp2043=) c.2096A= (p.Asp699=) c.6116A= (p.Asp2039=) n.336-70628A= c.6104A= (p.Asp2035=) c.5759A= (p.Asp1920=) c.2105A= (p.Asp702=) c.5999A= (p.Asp2000=) c.5990A= (p.Asp1997=) c.6005A= (p.Asp2002=) c.302A= (p.Asp101=) | |
X | g.32287692del | CA2695232717 | DMD | c.973del (p.Asp325IlefsTer30) c.6127del (p.Asp2043IlefsTer30) c.2095del (p.Asp699IlefsTer30) c.6115del (p.Asp2039IlefsTer30) n.336-70629del c.6103del (p.Asp2035IlefsTer30) c.5758del (p.Asp1920IlefsTer30) c.2104del (p.Asp702IlefsTer30) c.5998del (p.Asp2000IlefsTer30) c.5989del (p.Asp1997IlefsTer30) c.6004del (p.Asp2002IlefsTer30) c.301del (p.Asp101IlefsTer30) | |
X | g.32287692C>A | CA412666623 | DMD | c.973G>T (p.Asp325Tyr) c.6127G>T (p.Asp2043Tyr) c.2095G>T (p.Asp699Tyr) c.6115G>T (p.Asp2039Tyr) n.336-70629G>T c.6103G>T (p.Asp2035Tyr) c.5758G>T (p.Asp1920Tyr) c.2104G>T (p.Asp702Tyr) c.5998G>T (p.Asp2000Tyr) c.5989G>T (p.Asp1997Tyr) c.6004G>T (p.Asp2002Tyr) c.301G>T (p.Asp101Tyr) | |
X | g.32287692C>G | CA412666622 | DMD | c.973G>C (p.Asp325His) c.6127G>C (p.Asp2043His) c.2095G>C (p.Asp699His) c.6115G>C (p.Asp2039His) n.336-70629G>C c.6103G>C (p.Asp2035His) c.5758G>C (p.Asp1920His) c.2104G>C (p.Asp702His) c.5998G>C (p.Asp2000His) c.5989G>C (p.Asp1997His) c.6004G>C (p.Asp2002His) c.301G>C (p.Asp101His) | |
X | g.32287692C>T | CA412666620 | DMD | c.973G>A (p.Asp325Asn) c.6127G>A (p.Asp2043Asn) c.2095G>A (p.Asp699Asn) c.6115G>A (p.Asp2039Asn) n.336-70629G>A c.6103G>A (p.Asp2035Asn) c.5758G>A (p.Asp1920Asn) c.2104G>A (p.Asp702Asn) c.5998G>A (p.Asp2000Asn) c.5989G>A (p.Asp1997Asn) c.6004G>A (p.Asp2002Asn) c.301G>A (p.Asp101Asn) | |
X | g.32287693T>A | CA412666626 | DMD | c.972A>T (p.Lys324Asn) c.6126A>T (p.Lys2042Asn) c.2094A>T (p.Lys698Asn) c.6114A>T (p.Lys2038Asn) n.336-70630A>T c.6102A>T (p.Lys2034Asn) c.5757A>T (p.Lys1919Asn) c.2103A>T (p.Lys701Asn) c.5997A>T (p.Lys1999Asn) c.5988A>T (p.Lys1996Asn) c.6003A>T (p.Lys2001Asn) c.300A>T (p.Lys100Asn) |