| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32343226T>A | CA16616669 | DMD | c.493A>T (p.Lys165Ter) c.5647A>T (p.Lys1883Ter) c.1615A>T (p.Lys539Ter) c.5635A>T (p.Lys1879Ter) n.336-126163A>T c.304A>T (p.Lys102Ter) c.5623A>T (p.Lys1875Ter) c.5278A>T (p.Lys1760Ter) c.1624A>T (p.Lys542Ter) c.5518A>T (p.Lys1840Ter) c.5509A>T (p.Lys1837Ter) c.5524A>T (p.Lys1842Ter) | ClinVar dbSNP |
| X | g.32343226T>C | CA412666073 | DMD | c.493A>G (p.Lys165Glu) c.5647A>G (p.Lys1883Glu) c.1615A>G (p.Lys539Glu) c.5635A>G (p.Lys1879Glu) n.336-126163A>G c.304A>G (p.Lys102Glu) c.5623A>G (p.Lys1875Glu) c.5278A>G (p.Lys1760Glu) c.1624A>G (p.Lys542Glu) c.5518A>G (p.Lys1840Glu) c.5509A>G (p.Lys1837Glu) c.5524A>G (p.Lys1842Glu) | gnomAD v4 |
| X | g.32343226T>G | CA412666076 | DMD | c.493A>C (p.Lys165Gln) c.5647A>C (p.Lys1883Gln) c.1615A>C (p.Lys539Gln) c.5635A>C (p.Lys1879Gln) n.336-126163A>C c.304A>C (p.Lys102Gln) c.5623A>C (p.Lys1875Gln) c.5278A>C (p.Lys1760Gln) c.1624A>C (p.Lys542Gln) c.5518A>C (p.Lys1840Gln) c.5509A>C (p.Lys1837Gln) c.5524A>C (p.Lys1842Gln) | |
| X | g.32343226T= | CA2422760818 | DMD | c.493A= (p.Lys165=) c.5647A= (p.Lys1883=) c.1615A= (p.Lys539=) c.5635A= (p.Lys1879=) n.336-126163A= c.304A= (p.Lys102=) c.5623A= (p.Lys1875=) c.5278A= (p.Lys1760=) c.1624A= (p.Lys542=) c.5518A= (p.Lys1840=) c.5509A= (p.Lys1837=) c.5524A= (p.Lys1842=) | |
| X | g.32343227G>A | CA515714038 | DMD | c.492C>T (p.Tyr164=) c.5646C>T (p.Tyr1882=) c.1614C>T (p.Tyr538=) c.5634C>T (p.Tyr1878=) n.336-126164C>T c.303C>T (p.Tyr101=) c.5622C>T (p.Tyr1874=) c.5277C>T (p.Tyr1759=) c.1623C>T (p.Tyr541=) c.5517C>T (p.Tyr1839=) c.5508C>T (p.Tyr1836=) c.5523C>T (p.Tyr1841=) | ClinVar dbSNP gnomAD v4 |
| X | g.32343227G>C | CA412666081 | DMD | c.492C>G (p.Tyr164Ter) c.5646C>G (p.Tyr1882Ter) c.1614C>G (p.Tyr538Ter) c.5634C>G (p.Tyr1878Ter) n.336-126164C>G c.303C>G (p.Tyr101Ter) c.5622C>G (p.Tyr1874Ter) c.5277C>G (p.Tyr1759Ter) c.1623C>G (p.Tyr541Ter) c.5517C>G (p.Tyr1839Ter) c.5508C>G (p.Tyr1836Ter) c.5523C>G (p.Tyr1841Ter) | dbSNP |
| X | g.32343227G= | CA2422760819 | DMD | c.492C= (p.Tyr164=) c.5646C= (p.Tyr1882=) c.1614C= (p.Tyr538=) c.5634C= (p.Tyr1878=) n.336-126164C= c.303C= (p.Tyr101=) c.5622C= (p.Tyr1874=) c.5277C= (p.Tyr1759=) c.1623C= (p.Tyr541=) c.5517C= (p.Tyr1839=) c.5508C= (p.Tyr1836=) c.5523C= (p.Tyr1841=) | |
| X | g.32343227G>T | CA412666083 | DMD | c.492C>A (p.Tyr164Ter) c.5646C>A (p.Tyr1882Ter) c.1614C>A (p.Tyr538Ter) c.5634C>A (p.Tyr1878Ter) n.336-126164C>A c.303C>A (p.Tyr101Ter) c.5622C>A (p.Tyr1874Ter) c.5277C>A (p.Tyr1759Ter) c.1623C>A (p.Tyr541Ter) c.5517C>A (p.Tyr1839Ter) c.5508C>A (p.Tyr1836Ter) c.5523C>A (p.Tyr1841Ter) | ClinVar dbSNP |
| X | g.32343228T>A | CA412666093 | DMD | c.491A>T (p.Tyr164Phe) c.5645A>T (p.Tyr1882Phe) c.1613A>T (p.Tyr538Phe) c.5633A>T (p.Tyr1878Phe) n.336-126165A>T c.302A>T (p.Tyr101Phe) c.5621A>T (p.Tyr1874Phe) c.5276A>T (p.Tyr1759Phe) c.1622A>T (p.Tyr541Phe) c.5516A>T (p.Tyr1839Phe) c.5507A>T (p.Tyr1836Phe) c.5522A>T (p.Tyr1841Phe) | |
| X | g.32343228T>C | CA412666092 | DMD | c.491A>G (p.Tyr164Cys) c.5645A>G (p.Tyr1882Cys) c.1613A>G (p.Tyr538Cys) c.5633A>G (p.Tyr1878Cys) n.336-126165A>G c.302A>G (p.Tyr101Cys) c.5621A>G (p.Tyr1874Cys) c.5276A>G (p.Tyr1759Cys) c.1622A>G (p.Tyr541Cys) c.5516A>G (p.Tyr1839Cys) c.5507A>G (p.Tyr1836Cys) c.5522A>G (p.Tyr1841Cys) | |
| X | g.32343228T>G | CA412666088 | DMD | c.491A>C (p.Tyr164Ser) c.5645A>C (p.Tyr1882Ser) c.1613A>C (p.Tyr538Ser) c.5633A>C (p.Tyr1878Ser) n.336-126165A>C c.302A>C (p.Tyr101Ser) c.5621A>C (p.Tyr1874Ser) c.5276A>C (p.Tyr1759Ser) c.1622A>C (p.Tyr541Ser) c.5516A>C (p.Tyr1839Ser) c.5507A>C (p.Tyr1836Ser) c.5522A>C (p.Tyr1841Ser) | |
| X | g.32343229A>C | CA412666096 | DMD | c.490T>G (p.Tyr164Asp) c.5644T>G (p.Tyr1882Asp) c.1612T>G (p.Tyr538Asp) c.5632T>G (p.Tyr1878Asp) n.336-126166T>G c.301T>G (p.Tyr101Asp) c.5620T>G (p.Tyr1874Asp) c.5275T>G (p.Tyr1759Asp) c.1621T>G (p.Tyr541Asp) c.5515T>G (p.Tyr1839Asp) c.5506T>G (p.Tyr1836Asp) c.5521T>G (p.Tyr1841Asp) | |
| X | g.32343229A>G | CA412666099 | DMD | c.490T>C (p.Tyr164His) c.5644T>C (p.Tyr1882His) c.1612T>C (p.Tyr538His) c.5632T>C (p.Tyr1878His) n.336-126166T>C c.301T>C (p.Tyr101His) c.5620T>C (p.Tyr1874His) c.5275T>C (p.Tyr1759His) c.1621T>C (p.Tyr541His) c.5515T>C (p.Tyr1839His) c.5506T>C (p.Tyr1836His) c.5521T>C (p.Tyr1841His) | |
| X | g.32343229A>T | CA412666102 | DMD | c.490T>A (p.Tyr164Asn) c.5644T>A (p.Tyr1882Asn) c.1612T>A (p.Tyr538Asn) c.5632T>A (p.Tyr1878Asn) n.336-126166T>A c.301T>A (p.Tyr101Asn) c.5620T>A (p.Tyr1874Asn) c.5275T>A (p.Tyr1759Asn) c.1621T>A (p.Tyr541Asn) c.5515T>A (p.Tyr1839Asn) c.5506T>A (p.Tyr1836Asn) c.5521T>A (p.Tyr1841Asn) | |
| X | g.32343230C>A | CA412666104 | DMD | c.489G>T (p.Gln163His) c.5643G>T (p.Gln1881His) c.1611G>T (p.Gln537His) c.5631G>T (p.Gln1877His) n.336-126167G>T c.300G>T (p.Gln100His) c.5619G>T (p.Gln1873His) c.5274G>T (p.Gln1758His) c.1620G>T (p.Gln540His) c.5514G>T (p.Gln1838His) c.5505G>T (p.Gln1835His) c.5520G>T (p.Gln1840His) | |
| X | g.32343230C>G | CA412666108 | DMD | c.489G>C (p.Gln163His) c.5643G>C (p.Gln1881His) c.1611G>C (p.Gln537His) c.5631G>C (p.Gln1877His) n.336-126167G>C c.300G>C (p.Gln100His) c.5619G>C (p.Gln1873His) c.5274G>C (p.Gln1758His) c.1620G>C (p.Gln540His) c.5514G>C (p.Gln1838His) c.5505G>C (p.Gln1835His) c.5520G>C (p.Gln1840His) | |
| X | g.32343230C>T | CA515714049 | DMD | c.489G>A (p.Gln163=) c.5643G>A (p.Gln1881=) c.1611G>A (p.Gln537=) c.5631G>A (p.Gln1877=) n.336-126167G>A c.300G>A (p.Gln100=) c.5619G>A (p.Gln1873=) c.5274G>A (p.Gln1758=) c.1620G>A (p.Gln540=) c.5514G>A (p.Gln1838=) c.5505G>A (p.Gln1835=) c.5520G>A (p.Gln1840=) | ClinVar dbSNP |
| X | g.32343231T>A | CA412666112 | DMD | c.488A>T (p.Gln163Leu) c.5642A>T (p.Gln1881Leu) c.1610A>T (p.Gln537Leu) c.5630A>T (p.Gln1877Leu) n.336-126168A>T c.299A>T (p.Gln100Leu) c.5618A>T (p.Gln1873Leu) c.5273A>T (p.Gln1758Leu) c.1619A>T (p.Gln540Leu) c.5513A>T (p.Gln1838Leu) c.5504A>T (p.Gln1835Leu) c.5519A>T (p.Gln1840Leu) | |
| X | g.32343231T>C | CA412666114 | DMD | c.488A>G (p.Gln163Arg) c.5642A>G (p.Gln1881Arg) c.1610A>G (p.Gln537Arg) c.5630A>G (p.Gln1877Arg) n.336-126168A>G c.299A>G (p.Gln100Arg) c.5618A>G (p.Gln1873Arg) c.5273A>G (p.Gln1758Arg) c.1619A>G (p.Gln540Arg) c.5513A>G (p.Gln1838Arg) c.5504A>G (p.Gln1835Arg) c.5519A>G (p.Gln1840Arg) | |
| X | g.32343231T>G | CA412666117 | DMD | c.488A>C (p.Gln163Pro) c.5642A>C (p.Gln1881Pro) c.1610A>C (p.Gln537Pro) c.5630A>C (p.Gln1877Pro) n.336-126168A>C c.299A>C (p.Gln100Pro) c.5618A>C (p.Gln1873Pro) c.5273A>C (p.Gln1758Pro) c.1619A>C (p.Gln540Pro) c.5513A>C (p.Gln1838Pro) c.5504A>C (p.Gln1835Pro) c.5519A>C (p.Gln1840Pro) | |
| X | g.32343232G>A | CA347542 | DMD | c.487C>T (p.Gln163Ter) c.5641C>T (p.Gln1881Ter) c.1609C>T (p.Gln537Ter) c.5629C>T (p.Gln1877Ter) n.336-126169C>T c.298C>T (p.Gln100Ter) c.5617C>T (p.Gln1873Ter) c.5272C>T (p.Gln1758Ter) c.1618C>T (p.Gln540Ter) c.5512C>T (p.Gln1838Ter) c.5503C>T (p.Gln1835Ter) c.5518C>T (p.Gln1840Ter) | ClinVar dbSNP |
| X | g.32343232G>C | CA412666124 | DMD | c.487C>G (p.Gln163Glu) c.5641C>G (p.Gln1881Glu) c.1609C>G (p.Gln537Glu) c.5629C>G (p.Gln1877Glu) n.336-126169C>G c.298C>G (p.Gln100Glu) c.5617C>G (p.Gln1873Glu) c.5272C>G (p.Gln1758Glu) c.1618C>G (p.Gln540Glu) c.5512C>G (p.Gln1838Glu) c.5503C>G (p.Gln1835Glu) c.5518C>G (p.Gln1840Glu) | |
| X | g.32343232G= | CA2422760820 | DMD | c.487C= (p.Gln163=) c.5641C= (p.Gln1881=) c.1609C= (p.Gln537=) c.5629C= (p.Gln1877=) n.336-126169C= c.298C= (p.Gln100=) c.5617C= (p.Gln1873=) c.5272C= (p.Gln1758=) c.1618C= (p.Gln540=) c.5512C= (p.Gln1838=) c.5503C= (p.Gln1835=) c.5518C= (p.Gln1840=) | |
| X | g.32343232G>T | CA412666125 | DMD | c.487C>A (p.Gln163Lys) c.5641C>A (p.Gln1881Lys) c.1609C>A (p.Gln537Lys) c.5629C>A (p.Gln1877Lys) n.336-126169C>A c.298C>A (p.Gln100Lys) c.5617C>A (p.Gln1873Lys) c.5272C>A (p.Gln1758Lys) c.1618C>A (p.Gln540Lys) c.5512C>A (p.Gln1838Lys) c.5503C>A (p.Gln1835Lys) c.5518C>A (p.Gln1840Lys) | |
| X | g.32343232_32343260delinsGATACCACTGATGAGAAATTTCTAGAGCC | CA2422760821 | DMD | c.459_487delinsGGCTCTAGAAATTTCTCATCAGTGGTATC (p.Lys153=) c.5613_5641delinsGGCTCTAGAAATTTCTCATCAGTGGTATC (p.Lys1871=) c.1581_1609delinsGGCTCTAGAAATTTCTCATCAGTGGTATC (p.Lys527=) c.5601_5629delinsGGCTCTAGAAATTTCTCATCAGTGGTATC (p.Lys1867=) n.336-126197_336-126169delinsGGCTCTAGAAATTTCTCATCAGTGGTATC c.270_298delinsGGCTCTAGAAATTTCTCATCAGTGGTATC (p.Lys90=) c.5589_5617delinsGGCTCTAGAAATTTCTCATCAGTGGTATC (p.Lys1863=) c.5244_5272delinsGGCTCTAGAAATTTCTCATCAGTGGTATC (p.Lys1748=) c.1590_1618delinsGGCTCTAGAAATTTCTCATCAGTGGTATC (p.Lys530=) c.5484_5512delinsGGCTCTAGAAATTTCTCATCAGTGGTATC (p.Lys1828=) c.5475_5503delinsGGCTCTAGAAATTTCTCATCAGTGGTATC (p.Lys1825=) c.5490_5518delinsGGCTCTAGAAATTTCTCATCAGTGGTATC (p.Lys1830=) | |
| X | g.32343233A= | CA2422760822 | DMD | c.486T= (p.Tyr162=) c.5640T= (p.Tyr1880=) c.1608T= (p.Tyr536=) c.5628T= (p.Tyr1876=) n.336-126170T= c.297T= (p.Tyr99=) c.5616T= (p.Tyr1872=) c.5271T= (p.Tyr1757=) c.1617T= (p.Tyr539=) c.5511T= (p.Tyr1837=) c.5502T= (p.Tyr1834=) c.5517T= (p.Tyr1839=) | |
| X | g.32343233A>C | CA412666126 | DMD | c.486T>G (p.Tyr162Ter) c.5640T>G (p.Tyr1880Ter) c.1608T>G (p.Tyr536Ter) c.5628T>G (p.Tyr1876Ter) n.336-126170T>G c.297T>G (p.Tyr99Ter) c.5616T>G (p.Tyr1872Ter) c.5271T>G (p.Tyr1757Ter) c.1617T>G (p.Tyr539Ter) c.5511T>G (p.Tyr1837Ter) c.5502T>G (p.Tyr1834Ter) c.5517T>G (p.Tyr1839Ter) | |
| X | g.32343233A>G | CA515714060 | DMD | c.486T>C (p.Tyr162=) c.5640T>C (p.Tyr1880=) c.1608T>C (p.Tyr536=) c.5628T>C (p.Tyr1876=) n.336-126170T>C c.297T>C (p.Tyr99=) c.5616T>C (p.Tyr1872=) c.5271T>C (p.Tyr1757=) c.1617T>C (p.Tyr539=) c.5511T>C (p.Tyr1837=) c.5502T>C (p.Tyr1834=) c.5517T>C (p.Tyr1839=) | |
| X | g.32343233A>T | CA267071 | DMD | c.486T>A (p.Tyr162Ter) c.5640T>A (p.Tyr1880Ter) c.1608T>A (p.Tyr536Ter) c.5628T>A (p.Tyr1876Ter) n.336-126170T>A c.297T>A (p.Tyr99Ter) c.5616T>A (p.Tyr1872Ter) c.5271T>A (p.Tyr1757Ter) c.1617T>A (p.Tyr539Ter) c.5511T>A (p.Tyr1837Ter) c.5502T>A (p.Tyr1834Ter) c.5517T>A (p.Tyr1839Ter) | ClinVar dbSNP |
| X | g.32343233_32343260del | CA658658961 | DMD | c.459_486del (p.Lys153AsnfsTer11) c.5613_5640del (p.Lys1871AsnfsTer11) c.1581_1608del (p.Lys527AsnfsTer11) c.5601_5628del (p.Lys1867AsnfsTer11) n.336-126197_336-126170del c.270_297del (p.Lys90AsnfsTer11) c.5589_5616del (p.Lys1863AsnfsTer11) c.5244_5271del (p.Lys1748AsnfsTer11) c.1590_1617del (p.Lys530AsnfsTer11) c.5484_5511del (p.Lys1828AsnfsTer11) c.5475_5502del (p.Lys1825AsnfsTer11) c.5490_5517del (p.Lys1830AsnfsTer11) | ClinVar dbSNP |
| X | g.32343234T>A | CA412666131 | DMD | c.485A>T (p.Tyr162Phe) c.5639A>T (p.Tyr1880Phe) c.1607A>T (p.Tyr536Phe) c.5627A>T (p.Tyr1876Phe) n.336-126171A>T c.296A>T (p.Tyr99Phe) c.5615A>T (p.Tyr1872Phe) c.5270A>T (p.Tyr1757Phe) c.1616A>T (p.Tyr539Phe) c.5510A>T (p.Tyr1837Phe) c.5501A>T (p.Tyr1834Phe) c.5516A>T (p.Tyr1839Phe) | |
| X | g.32343234T>C | CA412666134 | DMD | c.485A>G (p.Tyr162Cys) c.5639A>G (p.Tyr1880Cys) c.1607A>G (p.Tyr536Cys) c.5627A>G (p.Tyr1876Cys) n.336-126171A>G c.296A>G (p.Tyr99Cys) c.5615A>G (p.Tyr1872Cys) c.5270A>G (p.Tyr1757Cys) c.1616A>G (p.Tyr539Cys) c.5510A>G (p.Tyr1837Cys) c.5501A>G (p.Tyr1834Cys) c.5516A>G (p.Tyr1839Cys) | gnomAD v4 |
| X | g.32343234T>G | CA412666128 | DMD | c.485A>C (p.Tyr162Ser) c.5639A>C (p.Tyr1880Ser) c.1607A>C (p.Tyr536Ser) c.5627A>C (p.Tyr1876Ser) n.336-126171A>C c.296A>C (p.Tyr99Ser) c.5615A>C (p.Tyr1872Ser) c.5270A>C (p.Tyr1757Ser) c.1616A>C (p.Tyr539Ser) c.5510A>C (p.Tyr1837Ser) c.5501A>C (p.Tyr1834Ser) c.5516A>C (p.Tyr1839Ser) | |
| X | g.32343235A= | CA2422760823 | DMD | c.484T= (p.Tyr162=) c.5638T= (p.Tyr1880=) c.1606T= (p.Tyr536=) c.5626T= (p.Tyr1876=) n.336-126172T= c.295T= (p.Tyr99=) c.5614T= (p.Tyr1872=) c.5269T= (p.Tyr1757=) c.1615T= (p.Tyr539=) c.5509T= (p.Tyr1837=) c.5500T= (p.Tyr1834=) c.5515T= (p.Tyr1839=) | |
| X | g.32343235A>C | CA412666145 | DMD | c.484T>G (p.Tyr162Asp) c.5638T>G (p.Tyr1880Asp) c.1606T>G (p.Tyr536Asp) c.5626T>G (p.Tyr1876Asp) n.336-126172T>G c.295T>G (p.Tyr99Asp) c.5614T>G (p.Tyr1872Asp) c.5269T>G (p.Tyr1757Asp) c.1615T>G (p.Tyr539Asp) c.5509T>G (p.Tyr1837Asp) c.5500T>G (p.Tyr1834Asp) c.5515T>G (p.Tyr1839Asp) | |
| X | g.32343235A>G | CA327982256 | DMD | c.484T>C (p.Tyr162His) c.5638T>C (p.Tyr1880His) c.1606T>C (p.Tyr536His) c.5626T>C (p.Tyr1876His) n.336-126172T>C c.295T>C (p.Tyr99His) c.5614T>C (p.Tyr1872His) c.5269T>C (p.Tyr1757His) c.1615T>C (p.Tyr539His) c.5509T>C (p.Tyr1837His) c.5500T>C (p.Tyr1834His) c.5515T>C (p.Tyr1839His) | dbSNP |
| X | g.32343235A>T | CA412666140 | DMD | c.484T>A (p.Tyr162Asn) c.5638T>A (p.Tyr1880Asn) c.1606T>A (p.Tyr536Asn) c.5626T>A (p.Tyr1876Asn) n.336-126172T>A c.295T>A (p.Tyr99Asn) c.5614T>A (p.Tyr1872Asn) c.5269T>A (p.Tyr1757Asn) c.1615T>A (p.Tyr539Asn) c.5509T>A (p.Tyr1837Asn) c.5500T>A (p.Tyr1834Asn) c.5515T>A (p.Tyr1839Asn) | |
| X | g.32343236C>A | CA327982259 | DMD | c.483G>T (p.Trp161Cys) c.5637G>T (p.Trp1879Cys) c.1605G>T (p.Trp535Cys) c.5625G>T (p.Trp1875Cys) n.336-126173G>T c.294G>T (p.Trp98Cys) c.5613G>T (p.Trp1871Cys) c.5268G>T (p.Trp1756Cys) c.1614G>T (p.Trp538Cys) c.5508G>T (p.Trp1836Cys) c.5499G>T (p.Trp1833Cys) c.5514G>T (p.Trp1838Cys) | dbSNP |
| X | g.32343236C= | CA2422760824 | DMD | c.483G= (p.Trp161=) c.5637G= (p.Trp1879=) c.1605G= (p.Trp535=) c.5625G= (p.Trp1875=) n.336-126173G= c.294G= (p.Trp98=) c.5613G= (p.Trp1871=) c.5268G= (p.Trp1756=) c.1614G= (p.Trp538=) c.5508G= (p.Trp1836=) c.5499G= (p.Trp1833=) c.5514G= (p.Trp1838=) | |
| X | g.32343236C>G | CA412666150 | DMD | c.483G>C (p.Trp161Cys) c.5637G>C (p.Trp1879Cys) c.1605G>C (p.Trp535Cys) c.5625G>C (p.Trp1875Cys) n.336-126173G>C c.294G>C (p.Trp98Cys) c.5613G>C (p.Trp1871Cys) c.5268G>C (p.Trp1756Cys) c.1614G>C (p.Trp538Cys) c.5508G>C (p.Trp1836Cys) c.5499G>C (p.Trp1833Cys) c.5514G>C (p.Trp1838Cys) | |
| X | g.32343236C>T | CA412666151 | DMD | c.483G>A (p.Trp161Ter) c.5637G>A (p.Trp1879Ter) c.1605G>A (p.Trp535Ter) c.5625G>A (p.Trp1875Ter) n.336-126173G>A c.294G>A (p.Trp98Ter) c.5613G>A (p.Trp1871Ter) c.5268G>A (p.Trp1756Ter) c.1614G>A (p.Trp538Ter) c.5508G>A (p.Trp1836Ter) c.5499G>A (p.Trp1833Ter) c.5514G>A (p.Trp1838Ter) | dbSNP |
| X | g.32343237C>A | CA412666153 | DMD | c.482G>T (p.Trp161Leu) c.5636G>T (p.Trp1879Leu) c.1604G>T (p.Trp535Leu) c.5624G>T (p.Trp1875Leu) n.336-126174G>T c.293G>T (p.Trp98Leu) c.5612G>T (p.Trp1871Leu) c.5267G>T (p.Trp1756Leu) c.1613G>T (p.Trp538Leu) c.5507G>T (p.Trp1836Leu) c.5498G>T (p.Trp1833Leu) c.5513G>T (p.Trp1838Leu) | |
| X | g.32343237C= | CA2422760825 | DMD | c.482G= (p.Trp161=) c.5636G= (p.Trp1879=) c.1604G= (p.Trp535=) c.5624G= (p.Trp1875=) n.336-126174G= c.293G= (p.Trp98=) c.5612G= (p.Trp1871=) c.5267G= (p.Trp1756=) c.1613G= (p.Trp538=) c.5507G= (p.Trp1836=) c.5498G= (p.Trp1833=) c.5513G= (p.Trp1838=) | |
| X | g.32343237C>G | CA412666156 | DMD | c.482G>C (p.Trp161Ser) c.5636G>C (p.Trp1879Ser) c.1604G>C (p.Trp535Ser) c.5624G>C (p.Trp1875Ser) n.336-126174G>C c.293G>C (p.Trp98Ser) c.5612G>C (p.Trp1871Ser) c.5267G>C (p.Trp1756Ser) c.1613G>C (p.Trp538Ser) c.5507G>C (p.Trp1836Ser) c.5498G>C (p.Trp1833Ser) c.5513G>C (p.Trp1838Ser) | |
| X | g.32343237C>T | CA412666164 | DMD | c.482G>A (p.Trp161Ter) c.5636G>A (p.Trp1879Ter) c.1604G>A (p.Trp535Ter) c.5624G>A (p.Trp1875Ter) n.336-126174G>A c.293G>A (p.Trp98Ter) c.5612G>A (p.Trp1871Ter) c.5267G>A (p.Trp1756Ter) c.1613G>A (p.Trp538Ter) c.5507G>A (p.Trp1836Ter) c.5498G>A (p.Trp1833Ter) c.5513G>A (p.Trp1838Ter) | ClinVar dbSNP |
| X | g.32343238A>C | CA412666169 | DMD | c.481T>G (p.Trp161Gly) c.5635T>G (p.Trp1879Gly) c.1603T>G (p.Trp535Gly) c.5623T>G (p.Trp1875Gly) n.336-126175T>G c.292T>G (p.Trp98Gly) c.5611T>G (p.Trp1871Gly) c.5266T>G (p.Trp1756Gly) c.1612T>G (p.Trp538Gly) c.5506T>G (p.Trp1836Gly) c.5497T>G (p.Trp1833Gly) c.5512T>G (p.Trp1838Gly) | |
| X | g.32343238A>G | CA412666174 | DMD | c.481T>C (p.Trp161Arg) c.5635T>C (p.Trp1879Arg) c.1603T>C (p.Trp535Arg) c.5623T>C (p.Trp1875Arg) n.336-126175T>C c.292T>C (p.Trp98Arg) c.5611T>C (p.Trp1871Arg) c.5266T>C (p.Trp1756Arg) c.1612T>C (p.Trp538Arg) c.5506T>C (p.Trp1836Arg) c.5497T>C (p.Trp1833Arg) c.5512T>C (p.Trp1838Arg) | |
| X | g.32343238A>T | CA412666185 | DMD | c.481T>A (p.Trp161Arg) c.5635T>A (p.Trp1879Arg) c.1603T>A (p.Trp535Arg) c.5623T>A (p.Trp1875Arg) n.336-126175T>A c.292T>A (p.Trp98Arg) c.5611T>A (p.Trp1871Arg) c.5266T>A (p.Trp1756Arg) c.1612T>A (p.Trp538Arg) c.5506T>A (p.Trp1836Arg) c.5497T>A (p.Trp1833Arg) c.5512T>A (p.Trp1838Arg) | |
| X | g.32343239C>A | CA412666190 | DMD | c.480G>T (p.Gln160His) c.5634G>T (p.Gln1878His) c.1602G>T (p.Gln534His) c.5622G>T (p.Gln1874His) n.336-126176G>T c.291G>T (p.Gln97His) c.5610G>T (p.Gln1870His) c.5265G>T (p.Gln1755His) c.1611G>T (p.Gln537His) c.5505G>T (p.Gln1835His) c.5496G>T (p.Gln1832His) c.5511G>T (p.Gln1837His) | |
| X | g.32343239C>G | CA412666193 | DMD | c.480G>C (p.Gln160His) c.5634G>C (p.Gln1878His) c.1602G>C (p.Gln534His) c.5622G>C (p.Gln1874His) n.336-126176G>C c.291G>C (p.Gln97His) c.5610G>C (p.Gln1870His) c.5265G>C (p.Gln1755His) c.1611G>C (p.Gln537His) c.5505G>C (p.Gln1835His) c.5496G>C (p.Gln1832His) c.5511G>C (p.Gln1837His) |