UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32345961_32345962delinsA | CA2695232752 | DMD | c.413_414delinsT (p.Thr138IlefsTer9) c.5567_5568delinsT (p.Thr1856IlefsTer9) c.1535_1536delinsT (p.Thr512IlefsTer9) c.5555_5556delinsT (p.Thr1852IlefsTer9) n.336-128899_336-128898delinsT c.224_225delinsT (p.Thr75IlefsTer9) c.5543_5544delinsT (p.Thr1848IlefsTer9) c.5198_5199delinsT (p.Thr1733IlefsTer9) c.1544_1545delinsT (p.Thr515IlefsTer9) c.5438_5439delinsT (p.Thr1813IlefsTer9) c.5448+2444_5448+2445delinsT (n.5448+2444_5448+2445delinsT) c.5444_5445delinsT (p.Thr1815IlefsTer9) | |
| X | g.32345964_32345967del | CA2580610889 | DMD | c.411_414del (p.Thr138AsnfsTer8) c.5565_5568del (p.Thr1856AsnfsTer8) c.1533_1536del (p.Thr512AsnfsTer8) c.5553_5556del (p.Thr1852AsnfsTer8) n.336-128901_336-128898del c.222_225del (p.Thr75AsnfsTer8) c.5541_5544del (p.Thr1848AsnfsTer8) c.5196_5199del (p.Thr1733AsnfsTer8) c.1542_1545del (p.Thr515AsnfsTer8) c.5436_5439del (p.Thr1813AsnfsTer8) c.5448+2442_5448+2445del (n.5448+2442_5448+2445del) c.5442_5445del (p.Thr1815AsnfsTer8) | ClinVar |
| X | g.32345962del | CA2580100685 | DMD | c.413del (p.Thr138LysfsTer9) c.5567del (p.Thr1856LysfsTer9) c.1535del (p.Thr512LysfsTer9) c.5555del (p.Thr1852LysfsTer9) n.336-128899del c.224del (p.Thr75LysfsTer9) c.5543del (p.Thr1848LysfsTer9) c.5198del (p.Thr1733LysfsTer9) c.1544del (p.Thr515LysfsTer9) c.5438del (p.Thr1813LysfsTer9) c.5448+2444del (n.5448+2444del) c.5444del (p.Thr1815LysfsTer9) | ClinVar |
| X | g.32345962G>A | CA412667253 | DMD | c.413C>T (p.Thr138Ile) c.5567C>T (p.Thr1856Ile) c.1535C>T (p.Thr512Ile) c.5555C>T (p.Thr1852Ile) n.336-128899C>T c.224C>T (p.Thr75Ile) c.5543C>T (p.Thr1848Ile) c.5198C>T (p.Thr1733Ile) c.1544C>T (p.Thr515Ile) c.5438C>T (p.Thr1813Ile) c.5448+2444C>T (n.5448+2444C>T) c.5444C>T (p.Thr1815Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.32345962G>C | CA412667252 | DMD | c.413C>G (p.Thr138Arg) c.5567C>G (p.Thr1856Arg) c.1535C>G (p.Thr512Arg) c.5555C>G (p.Thr1852Arg) n.336-128899C>G c.224C>G (p.Thr75Arg) c.5543C>G (p.Thr1848Arg) c.5198C>G (p.Thr1733Arg) c.1544C>G (p.Thr515Arg) c.5438C>G (p.Thr1813Arg) c.5448+2444C>G (n.5448+2444C>G) c.5444C>G (p.Thr1815Arg) | dbSNP |
| X | g.32345962G= | CA2422761915 | DMD | c.413C= (p.Thr138=) c.5567C= (p.Thr1856=) c.1535C= (p.Thr512=) c.5555C= (p.Thr1852=) n.336-128899C= c.224C= (p.Thr75=) c.5543C= (p.Thr1848=) c.5198C= (p.Thr1733=) c.1544C= (p.Thr515=) c.5438C= (p.Thr1813=) c.5448+2444C= (n.5448+2444C=) c.5444C= (p.Thr1815=) | |
| X | g.32345962G>T | CA327983697 | DMD | c.413C>A (p.Thr138Lys) c.5567C>A (p.Thr1856Lys) c.1535C>A (p.Thr512Lys) c.5555C>A (p.Thr1852Lys) n.336-128899C>A c.224C>A (p.Thr75Lys) c.5543C>A (p.Thr1848Lys) c.5198C>A (p.Thr1733Lys) c.1544C>A (p.Thr515Lys) c.5438C>A (p.Thr1813Lys) c.5448+2444C>A (n.5448+2444C>A) c.5444C>A (p.Thr1815Lys) | dbSNP gnomAD v4 |
| X | g.32345963T>A | CA412667254 | DMD | c.412A>T (p.Thr138Ser) c.5566A>T (p.Thr1856Ser) c.1534A>T (p.Thr512Ser) c.5554A>T (p.Thr1852Ser) n.336-128900A>T c.223A>T (p.Thr75Ser) c.5542A>T (p.Thr1848Ser) c.5197A>T (p.Thr1733Ser) c.1543A>T (p.Thr515Ser) c.5437A>T (p.Thr1813Ser) c.5448+2443A>T (n.5448+2443A>T) c.5443A>T (p.Thr1815Ser) | |
| X | g.32345963T>C | CA10378654 | DMD | c.412A>G (p.Thr138Ala) c.5566A>G (p.Thr1856Ala) c.1534A>G (p.Thr512Ala) c.5554A>G (p.Thr1852Ala) n.336-128900A>G c.223A>G (p.Thr75Ala) c.5542A>G (p.Thr1848Ala) c.5197A>G (p.Thr1733Ala) c.1543A>G (p.Thr515Ala) c.5437A>G (p.Thr1813Ala) c.5448+2443A>G (n.5448+2443A>G) c.5443A>G (p.Thr1815Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.32345963T>G | CA412667255 | DMD | c.412A>C (p.Thr138Pro) c.5566A>C (p.Thr1856Pro) c.1534A>C (p.Thr512Pro) c.5554A>C (p.Thr1852Pro) n.336-128900A>C c.223A>C (p.Thr75Pro) c.5542A>C (p.Thr1848Pro) c.5197A>C (p.Thr1733Pro) c.1543A>C (p.Thr515Pro) c.5437A>C (p.Thr1813Pro) c.5448+2443A>C (n.5448+2443A>C) c.5443A>C (p.Thr1815Pro) | |
| X | g.32345963T= | CA2422761916 | DMD | c.412A= (p.Thr138=) c.5566A= (p.Thr1856=) c.1534A= (p.Thr512=) c.5554A= (p.Thr1852=) n.336-128900A= c.223A= (p.Thr75=) c.5542A= (p.Thr1848=) c.5197A= (p.Thr1733=) c.1543A= (p.Thr515=) c.5437A= (p.Thr1813=) c.5448+2443A= (n.5448+2443A=) c.5443A= (p.Thr1815=) | |
| X | g.32345963_32345975delinsTCTGTAACAGCTG | CA2422761917 | DMD | c.400_412delinsCAGCTGTTACAGA (p.Gln134=) c.5554_5566delinsCAGCTGTTACAGA (p.Gln1852=) c.1522_1534delinsCAGCTGTTACAGA (p.Gln508=) c.5542_5554delinsCAGCTGTTACAGA (p.Gln1848=) n.336-128912_336-128900delinsCAGCTGTTACAGA c.211_223delinsCAGCTGTTACAGA (p.Gln71=) c.5530_5542delinsCAGCTGTTACAGA (p.Gln1844=) c.5185_5197delinsCAGCTGTTACAGA (p.Gln1729=) c.1531_1543delinsCAGCTGTTACAGA (p.Gln511=) c.5425_5437delinsCAGCTGTTACAGA (p.Gln1809=) c.5448+2431_5448+2443delinsCAGCTGTTACAGA (n.5448+2431_5448+2443delinsCAGCTGTTACAGA) c.5431_5443delinsCAGCTGTTACAGA (p.Gln1811=) | |
| X | g.32345964C>A | CA327983707 | DMD | c.411G>T (p.Gln137His) c.5565G>T (p.Gln1855His) c.1533G>T (p.Gln511His) c.5553G>T (p.Gln1851His) n.336-128901G>T c.222G>T (p.Gln74His) c.5541G>T (p.Gln1847His) c.5196G>T (p.Gln1732His) c.1542G>T (p.Gln514His) c.5436G>T (p.Gln1812His) c.5448+2442G>T (n.5448+2442G>T) c.5442G>T (p.Gln1814His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32345964C= | CA2422761918 | DMD | c.411G= (p.Gln137=) c.5565G= (p.Gln1855=) c.1533G= (p.Gln511=) c.5553G= (p.Gln1851=) n.336-128901G= c.222G= (p.Gln74=) c.5541G= (p.Gln1847=) c.5196G= (p.Gln1732=) c.1542G= (p.Gln514=) c.5436G= (p.Gln1812=) c.5448+2442G= (n.5448+2442G=) c.5442G= (p.Gln1814=) | |
| X | g.32345964C>G | CA412667256 | DMD | c.411G>C (p.Gln137His) c.5565G>C (p.Gln1855His) c.1533G>C (p.Gln511His) c.5553G>C (p.Gln1851His) n.336-128901G>C c.222G>C (p.Gln74His) c.5541G>C (p.Gln1847His) c.5196G>C (p.Gln1732His) c.1542G>C (p.Gln514His) c.5436G>C (p.Gln1812His) c.5448+2442G>C (n.5448+2442G>C) c.5442G>C (p.Gln1814His) | |
| X | g.32345964C>T | CA515714270 | DMD | c.411G>A (p.Gln137=) c.5565G>A (p.Gln1855=) c.1533G>A (p.Gln511=) c.5553G>A (p.Gln1851=) n.336-128901G>A c.222G>A (p.Gln74=) c.5541G>A (p.Gln1847=) c.5196G>A (p.Gln1732=) c.1542G>A (p.Gln514=) c.5436G>A (p.Gln1812=) c.5448+2442G>A (n.5448+2442G>A) c.5442G>A (p.Gln1814=) | |
| X | g.32345968_32345979del | CA10378653 | DMD | c.400_411del (p.Gln134_Gln137del) c.5554_5565del (p.Gln1852_Gln1855del) c.1522_1533del (p.Gln508_Gln511del) c.5542_5553del (p.Gln1848_Gln1851del) n.336-128912_336-128901del c.211_222del (p.Gln71_Gln74del) c.5530_5541del (p.Gln1844_Gln1847del) c.5185_5196del (p.Gln1729_Gln1732del) c.1531_1542del (p.Gln511_Gln514del) c.5425_5436del (p.Gln1809_Gln1812del) c.5448+2431_5448+2442del (n.5448+2431_5448+2442del) c.5431_5442del (p.Gln1811_Gln1814del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32345965T>A | CA412667257 | DMD | c.410A>T (p.Gln137Leu) c.5564A>T (p.Gln1855Leu) c.1532A>T (p.Gln511Leu) c.5552A>T (p.Gln1851Leu) n.336-128902A>T c.221A>T (p.Gln74Leu) c.5540A>T (p.Gln1847Leu) c.5195A>T (p.Gln1732Leu) c.1541A>T (p.Gln514Leu) c.5435A>T (p.Gln1812Leu) c.5448+2441A>T (n.5448+2441A>T) c.5441A>T (p.Gln1814Leu) | |
| X | g.32345965T>C | CA412667258 | DMD | c.410A>G (p.Gln137Arg) c.5564A>G (p.Gln1855Arg) c.1532A>G (p.Gln511Arg) c.5552A>G (p.Gln1851Arg) n.336-128902A>G c.221A>G (p.Gln74Arg) c.5540A>G (p.Gln1847Arg) c.5195A>G (p.Gln1732Arg) c.1541A>G (p.Gln514Arg) c.5435A>G (p.Gln1812Arg) c.5448+2441A>G (n.5448+2441A>G) c.5441A>G (p.Gln1814Arg) | |
| X | g.32345965T>G | CA412667259 | DMD | c.410A>C (p.Gln137Pro) c.5564A>C (p.Gln1855Pro) c.1532A>C (p.Gln511Pro) c.5552A>C (p.Gln1851Pro) n.336-128902A>C c.221A>C (p.Gln74Pro) c.5540A>C (p.Gln1847Pro) c.5195A>C (p.Gln1732Pro) c.1541A>C (p.Gln514Pro) c.5435A>C (p.Gln1812Pro) c.5448+2441A>C (n.5448+2441A>C) c.5441A>C (p.Gln1814Pro) | |
| X | g.32345966G>A | CA412667260 | DMD | c.409C>T (p.Gln137Ter) c.5563C>T (p.Gln1855Ter) c.1531C>T (p.Gln511Ter) c.5551C>T (p.Gln1851Ter) n.336-128903C>T c.220C>T (p.Gln74Ter) c.5539C>T (p.Gln1847Ter) c.5194C>T (p.Gln1732Ter) c.1540C>T (p.Gln514Ter) c.5434C>T (p.Gln1812Ter) c.5448+2440C>T (n.5448+2440C>T) c.5440C>T (p.Gln1814Ter) | ClinVar dbSNP |
| X | g.32345966G>C | CA412667261 | DMD | c.409C>G (p.Gln137Glu) c.5563C>G (p.Gln1855Glu) c.1531C>G (p.Gln511Glu) c.5551C>G (p.Gln1851Glu) n.336-128903C>G c.220C>G (p.Gln74Glu) c.5539C>G (p.Gln1847Glu) c.5194C>G (p.Gln1732Glu) c.1540C>G (p.Gln514Glu) c.5434C>G (p.Gln1812Glu) c.5448+2440C>G (n.5448+2440C>G) c.5440C>G (p.Gln1814Glu) | |
| X | g.32345966G= | CA2422761919 | DMD | c.409C= (p.Gln137=) c.5563C= (p.Gln1855=) c.1531C= (p.Gln511=) c.5551C= (p.Gln1851=) n.336-128903C= c.220C= (p.Gln74=) c.5539C= (p.Gln1847=) c.5194C= (p.Gln1732=) c.1540C= (p.Gln514=) c.5434C= (p.Gln1812=) c.5448+2440C= (n.5448+2440C=) c.5440C= (p.Gln1814=) | |
| X | g.32345966G>T | CA412667262 | DMD | c.409C>A (p.Gln137Lys) c.5563C>A (p.Gln1855Lys) c.1531C>A (p.Gln511Lys) c.5551C>A (p.Gln1851Lys) n.336-128903C>A c.220C>A (p.Gln74Lys) c.5539C>A (p.Gln1847Lys) c.5194C>A (p.Gln1732Lys) c.1540C>A (p.Gln514Lys) c.5434C>A (p.Gln1812Lys) c.5448+2440C>A (n.5448+2440C>A) c.5440C>A (p.Gln1814Lys) | |
| X | g.32345967T>A | CA412667264 | DMD | c.408A>T (p.Leu136Phe) c.5562A>T (p.Leu1854Phe) c.1530A>T (p.Leu510Phe) c.5550A>T (p.Leu1850Phe) n.336-128904A>T c.219A>T (p.Leu73Phe) c.5538A>T (p.Leu1846Phe) c.5193A>T (p.Leu1731Phe) c.1539A>T (p.Leu513Phe) c.5433A>T (p.Leu1811Phe) c.5448+2439A>T (n.5448+2439A>T) c.5439A>T (p.Leu1813Phe) | |
| X | g.32345967T>C | CA10378655 | DMD | c.408A>G (p.Leu136=) c.5562A>G (p.Leu1854=) c.1530A>G (p.Leu510=) c.5550A>G (p.Leu1850=) n.336-128904A>G c.219A>G (p.Leu73=) c.5538A>G (p.Leu1846=) c.5193A>G (p.Leu1731=) c.1539A>G (p.Leu513=) c.5433A>G (p.Leu1811=) c.5448+2439A>G (n.5448+2439A>G) c.5439A>G (p.Leu1813=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32345967T>G | CA412667263 | DMD | c.408A>C (p.Leu136Phe) c.5562A>C (p.Leu1854Phe) c.1530A>C (p.Leu510Phe) c.5550A>C (p.Leu1850Phe) n.336-128904A>C c.219A>C (p.Leu73Phe) c.5538A>C (p.Leu1846Phe) c.5193A>C (p.Leu1731Phe) c.1539A>C (p.Leu513Phe) c.5433A>C (p.Leu1811Phe) c.5448+2439A>C (n.5448+2439A>C) c.5439A>C (p.Leu1813Phe) | |
| X | g.32345967T= | CA2422761920 | DMD | c.408A= (p.Leu136=) c.5562A= (p.Leu1854=) c.1530A= (p.Leu510=) c.5550A= (p.Leu1850=) n.336-128904A= c.219A= (p.Leu73=) c.5538A= (p.Leu1846=) c.5193A= (p.Leu1731=) c.1539A= (p.Leu513=) c.5433A= (p.Leu1811=) c.5448+2439A= (n.5448+2439A=) c.5439A= (p.Leu1813=) | |
| X | g.32345968A>C | CA412667265 | DMD | c.407T>G (p.Leu136Ter) c.5561T>G (p.Leu1854Ter) c.1529T>G (p.Leu510Ter) c.5549T>G (p.Leu1850Ter) n.336-128905T>G c.218T>G (p.Leu73Ter) c.5537T>G (p.Leu1846Ter) c.5192T>G (p.Leu1731Ter) c.1538T>G (p.Leu513Ter) c.5432T>G (p.Leu1811Ter) c.5448+2438T>G (n.5448+2438T>G) c.5438T>G (p.Leu1813Ter) | |
| X | g.32345968A>G | CA412667266 | DMD | c.407T>C (p.Leu136Ser) c.5561T>C (p.Leu1854Ser) c.1529T>C (p.Leu510Ser) c.5549T>C (p.Leu1850Ser) n.336-128905T>C c.218T>C (p.Leu73Ser) c.5537T>C (p.Leu1846Ser) c.5192T>C (p.Leu1731Ser) c.1538T>C (p.Leu513Ser) c.5432T>C (p.Leu1811Ser) c.5448+2438T>C (n.5448+2438T>C) c.5438T>C (p.Leu1813Ser) | |
| X | g.32345968A>T | CA412667267 | DMD | c.407T>A (p.Leu136Ter) c.5561T>A (p.Leu1854Ter) c.1529T>A (p.Leu510Ter) c.5549T>A (p.Leu1850Ter) n.336-128905T>A c.218T>A (p.Leu73Ter) c.5537T>A (p.Leu1846Ter) c.5192T>A (p.Leu1731Ter) c.1538T>A (p.Leu513Ter) c.5432T>A (p.Leu1811Ter) c.5448+2438T>A (n.5448+2438T>A) c.5438T>A (p.Leu1813Ter) | |
| X | g.32345969del | CA2695232753 | DMD | c.407del (p.Leu136TyrfsTer11) c.5561del (p.Leu1854TyrfsTer11) c.1529del (p.Leu510TyrfsTer11) c.5549del (p.Leu1850TyrfsTer11) n.336-128905del c.218del (p.Leu73TyrfsTer11) c.5537del (p.Leu1846TyrfsTer11) c.5192del (p.Leu1731TyrfsTer11) c.1538del (p.Leu513TyrfsTer11) c.5432del (p.Leu1811TyrfsTer11) c.5448+2438del (n.5448+2438del) c.5438del (p.Leu1813TyrfsTer11) | |
| X | g.32345969A= | CA2422761921 | DMD | c.406T= (p.Leu136=) c.5560T= (p.Leu1854=) c.1528T= (p.Leu510=) c.5548T= (p.Leu1850=) n.336-128906T= c.217T= (p.Leu73=) c.5536T= (p.Leu1846=) c.5191T= (p.Leu1731=) c.1537T= (p.Leu513=) c.5431T= (p.Leu1811=) c.5448+2437T= (n.5448+2437T=) c.5437T= (p.Leu1813=) | |
| X | g.32345969A>C | CA412667268 | DMD | c.406T>G (p.Leu136Val) c.5560T>G (p.Leu1854Val) c.1528T>G (p.Leu510Val) c.5548T>G (p.Leu1850Val) n.336-128906T>G c.217T>G (p.Leu73Val) c.5536T>G (p.Leu1846Val) c.5191T>G (p.Leu1731Val) c.1537T>G (p.Leu513Val) c.5431T>G (p.Leu1811Val) c.5448+2437T>G (n.5448+2437T>G) c.5437T>G (p.Leu1813Val) | |
| X | g.32345969A>G | CA515714271 | DMD | c.406T>C (p.Leu136=) c.5560T>C (p.Leu1854=) c.1528T>C (p.Leu510=) c.5548T>C (p.Leu1850=) n.336-128906T>C c.217T>C (p.Leu73=) c.5536T>C (p.Leu1846=) c.5191T>C (p.Leu1731=) c.1537T>C (p.Leu513=) c.5431T>C (p.Leu1811=) c.5448+2437T>C (n.5448+2437T>C) c.5437T>C (p.Leu1813=) | dbSNP |
| X | g.32345969A>T | CA412667269 | DMD | c.406T>A (p.Leu136Ile) c.5560T>A (p.Leu1854Ile) c.1528T>A (p.Leu510Ile) c.5548T>A (p.Leu1850Ile) n.336-128906T>A c.217T>A (p.Leu73Ile) c.5536T>A (p.Leu1846Ile) c.5191T>A (p.Leu1731Ile) c.1537T>A (p.Leu513Ile) c.5431T>A (p.Leu1811Ile) c.5448+2437T>A (n.5448+2437T>A) c.5437T>A (p.Leu1813Ile) | |
| X | g.32345970del | CA2739270749 | DMD | c.405del (p.Leu136TyrfsTer11) c.5559del (p.Leu1854TyrfsTer11) c.1527del (p.Leu510TyrfsTer11) c.5547del (p.Leu1850TyrfsTer11) n.336-128907del c.216del (p.Leu73TyrfsTer11) c.5535del (p.Leu1846TyrfsTer11) c.5190del (p.Leu1731TyrfsTer11) c.1536del (p.Leu513TyrfsTer11) c.5430del (p.Leu1811TyrfsTer11) c.5448+2436del (n.5448+2436del) c.5436del (p.Leu1813TyrfsTer11) | ClinVar |
| X | g.32345970C>A | CA515714274 | DMD | c.405G>T (p.Leu135=) c.5559G>T (p.Leu1853=) c.1527G>T (p.Leu509=) c.5547G>T (p.Leu1849=) n.336-128907G>T c.216G>T (p.Leu72=) c.5535G>T (p.Leu1845=) c.5190G>T (p.Leu1730=) c.1536G>T (p.Leu512=) c.5430G>T (p.Leu1810=) c.5448+2436G>T (n.5448+2436G>T) c.5436G>T (p.Leu1812=) | |
| X | g.32345970C>G | CA515714272 | DMD | c.405G>C (p.Leu135=) c.5559G>C (p.Leu1853=) c.1527G>C (p.Leu509=) c.5547G>C (p.Leu1849=) n.336-128907G>C c.216G>C (p.Leu72=) c.5535G>C (p.Leu1845=) c.5190G>C (p.Leu1730=) c.1536G>C (p.Leu512=) c.5430G>C (p.Leu1810=) c.5448+2436G>C (n.5448+2436G>C) c.5436G>C (p.Leu1812=) | |
| X | g.32345970C>T | CA515714273 | DMD | c.405G>A (p.Leu135=) c.5559G>A (p.Leu1853=) c.1527G>A (p.Leu509=) c.5547G>A (p.Leu1849=) n.336-128907G>A c.216G>A (p.Leu72=) c.5535G>A (p.Leu1845=) c.5190G>A (p.Leu1730=) c.1536G>A (p.Leu512=) c.5430G>A (p.Leu1810=) c.5448+2436G>A (n.5448+2436G>A) c.5436G>A (p.Leu1812=) | ClinVar |
| X | g.32345971A>C | CA412667270 | DMD | c.404T>G (p.Leu135Arg) c.5558T>G (p.Leu1853Arg) c.1526T>G (p.Leu509Arg) c.5546T>G (p.Leu1849Arg) n.336-128908T>G c.215T>G (p.Leu72Arg) c.5534T>G (p.Leu1845Arg) c.5189T>G (p.Leu1730Arg) c.1535T>G (p.Leu512Arg) c.5429T>G (p.Leu1810Arg) c.5448+2435T>G (n.5448+2435T>G) c.5435T>G (p.Leu1812Arg) | |
| X | g.32345971A>G | CA412667271 | DMD | c.404T>C (p.Leu135Pro) c.5558T>C (p.Leu1853Pro) c.1526T>C (p.Leu509Pro) c.5546T>C (p.Leu1849Pro) n.336-128908T>C c.215T>C (p.Leu72Pro) c.5534T>C (p.Leu1845Pro) c.5189T>C (p.Leu1730Pro) c.1535T>C (p.Leu512Pro) c.5429T>C (p.Leu1810Pro) c.5448+2435T>C (n.5448+2435T>C) c.5435T>C (p.Leu1812Pro) | |
| X | g.32345971A>T | CA412667272 | DMD | c.404T>A (p.Leu135Gln) c.5558T>A (p.Leu1853Gln) c.1526T>A (p.Leu509Gln) c.5546T>A (p.Leu1849Gln) n.336-128908T>A c.215T>A (p.Leu72Gln) c.5534T>A (p.Leu1845Gln) c.5189T>A (p.Leu1730Gln) c.1535T>A (p.Leu512Gln) c.5429T>A (p.Leu1810Gln) c.5448+2435T>A (n.5448+2435T>A) c.5435T>A (p.Leu1812Gln) | |
| X | g.32345972G>A | CA515714275 | DMD | c.403C>T (p.Leu135=) c.5557C>T (p.Leu1853=) c.1525C>T (p.Leu509=) c.5545C>T (p.Leu1849=) n.336-128909C>T c.214C>T (p.Leu72=) c.5533C>T (p.Leu1845=) c.5188C>T (p.Leu1730=) c.1534C>T (p.Leu512=) c.5428C>T (p.Leu1810=) c.5448+2434C>T (n.5448+2434C>T) c.5434C>T (p.Leu1812=) | ClinVar |
| X | g.32345972G>C | CA327983712 | DMD | c.403C>G (p.Leu135Val) c.5557C>G (p.Leu1853Val) c.1525C>G (p.Leu509Val) c.5545C>G (p.Leu1849Val) n.336-128909C>G c.214C>G (p.Leu72Val) c.5533C>G (p.Leu1845Val) c.5188C>G (p.Leu1730Val) c.1534C>G (p.Leu512Val) c.5428C>G (p.Leu1810Val) c.5448+2434C>G (n.5448+2434C>G) c.5434C>G (p.Leu1812Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.32345972G= | CA2422761922 | DMD | c.403C= (p.Leu135=) c.5557C= (p.Leu1853=) c.1525C= (p.Leu509=) c.5545C= (p.Leu1849=) n.336-128909C= c.214C= (p.Leu72=) c.5533C= (p.Leu1845=) c.5188C= (p.Leu1730=) c.1534C= (p.Leu512=) c.5428C= (p.Leu1810=) c.5448+2434C= (n.5448+2434C=) c.5434C= (p.Leu1812=) | |
| X | g.32345972G>T | CA412667273 | DMD | c.403C>A (p.Leu135Met) c.5557C>A (p.Leu1853Met) c.1525C>A (p.Leu509Met) c.5545C>A (p.Leu1849Met) n.336-128909C>A c.214C>A (p.Leu72Met) c.5533C>A (p.Leu1845Met) c.5188C>A (p.Leu1730Met) c.1534C>A (p.Leu512Met) c.5428C>A (p.Leu1810Met) c.5448+2434C>A (n.5448+2434C>A) c.5434C>A (p.Leu1812Met) | |
| X | g.32345973C>A | CA412667274 | DMD | c.402G>T (p.Gln134His) c.5556G>T (p.Gln1852His) c.1524G>T (p.Gln508His) c.5544G>T (p.Gln1848His) n.336-128910G>T c.213G>T (p.Gln71His) c.5532G>T (p.Gln1844His) c.5187G>T (p.Gln1729His) c.1533G>T (p.Gln511His) c.5427G>T (p.Gln1809His) c.5448+2433G>T (n.5448+2433G>T) c.5433G>T (p.Gln1811His) | |
| X | g.32345973C>G | CA412667275 | DMD | c.402G>C (p.Gln134His) c.5556G>C (p.Gln1852His) c.1524G>C (p.Gln508His) c.5544G>C (p.Gln1848His) n.336-128910G>C c.213G>C (p.Gln71His) c.5532G>C (p.Gln1844His) c.5187G>C (p.Gln1729His) c.1533G>C (p.Gln511His) c.5427G>C (p.Gln1809His) c.5448+2433G>C (n.5448+2433G>C) c.5433G>C (p.Gln1811His) | |
| X | g.32345973C>T | CA515714276 | DMD | c.402G>A (p.Gln134=) c.5556G>A (p.Gln1852=) c.1524G>A (p.Gln508=) c.5544G>A (p.Gln1848=) n.336-128910G>A c.213G>A (p.Gln71=) c.5532G>A (p.Gln1844=) c.5187G>A (p.Gln1729=) c.1533G>A (p.Gln511=) c.5427G>A (p.Gln1809=) c.5448+2433G>A (n.5448+2433G>A) c.5433G>A (p.Gln1811=) |