Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.32343232_32343260delinsGATACCACTGATGAGAAATTTCTAGAGCCCA2422760821DMDc.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=)
Xg.32343233_32343260delCA658658961DMDc.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
Xg.32343237C>ACA412666153DMDc.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)
Xg.32343237C=CA2422760825DMDc.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=)
Xg.32343237C>GCA412666156DMDc.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)
Xg.32343237C>TCA412666164DMDc.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
Xg.32343238A>CCA412666169DMDc.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)
Xg.32343238A>GCA412666174DMDc.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)
Xg.32343238A>TCA412666185DMDc.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)
Xg.32343239C>ACA412666190DMDc.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)
Xg.32343239C>GCA412666193DMDc.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)
Xg.32343239C>TCA515714082DMDc.480G>A (p.Gln160=)
c.5634G>A (p.Gln1878=)
c.1602G>A (p.Gln534=)
c.5622G>A (p.Gln1874=)
n.336-126176G>A
c.291G>A (p.Gln97=)
c.5610G>A (p.Gln1870=)
c.5265G>A (p.Gln1755=)
c.1611G>A (p.Gln537=)
c.5505G>A (p.Gln1835=)
c.5496G>A (p.Gln1832=)
c.5511G>A (p.Gln1837=)
Xg.32343240T>ACA412666198DMDc.479A>T (p.Gln160Leu)
c.5633A>T (p.Gln1878Leu)
c.1601A>T (p.Gln534Leu)
c.5621A>T (p.Gln1874Leu)
n.336-126177A>T
c.290A>T (p.Gln97Leu)
c.5609A>T (p.Gln1870Leu)
c.5264A>T (p.Gln1755Leu)
c.1610A>T (p.Gln537Leu)
c.5504A>T (p.Gln1835Leu)
c.5495A>T (p.Gln1832Leu)
c.5510A>T (p.Gln1837Leu)
Xg.32343240T>CCA412666197DMDc.479A>G (p.Gln160Arg)
c.5633A>G (p.Gln1878Arg)
c.1601A>G (p.Gln534Arg)
c.5621A>G (p.Gln1874Arg)
n.336-126177A>G
c.290A>G (p.Gln97Arg)
c.5609A>G (p.Gln1870Arg)
c.5264A>G (p.Gln1755Arg)
c.1610A>G (p.Gln537Arg)
c.5504A>G (p.Gln1835Arg)
c.5495A>G (p.Gln1832Arg)
c.5510A>G (p.Gln1837Arg)
Xg.32343240T>GCA412666196DMDc.479A>C (p.Gln160Pro)
c.5633A>C (p.Gln1878Pro)
c.1601A>C (p.Gln534Pro)
c.5621A>C (p.Gln1874Pro)
n.336-126177A>C
c.290A>C (p.Gln97Pro)
c.5609A>C (p.Gln1870Pro)
c.5264A>C (p.Gln1755Pro)
c.1610A>C (p.Gln537Pro)
c.5504A>C (p.Gln1835Pro)
c.5495A>C (p.Gln1832Pro)
c.5510A>C (p.Gln1837Pro)
Xg.32343241G>ACA412666201DMDc.478C>T (p.Gln160Ter)
c.5632C>T (p.Gln1878Ter)
c.1600C>T (p.Gln534Ter)
c.5620C>T (p.Gln1874Ter)
n.336-126178C>T
c.289C>T (p.Gln97Ter)
c.5608C>T (p.Gln1870Ter)
c.5263C>T (p.Gln1755Ter)
c.1609C>T (p.Gln537Ter)
c.5503C>T (p.Gln1835Ter)
c.5494C>T (p.Gln1832Ter)
c.5509C>T (p.Gln1837Ter)
 ClinVar dbSNP
Xg.32343241G>CCA412666204DMDc.478C>G (p.Gln160Glu)
c.5632C>G (p.Gln1878Glu)
c.1600C>G (p.Gln534Glu)
c.5620C>G (p.Gln1874Glu)
n.336-126178C>G
c.289C>G (p.Gln97Glu)
c.5608C>G (p.Gln1870Glu)
c.5263C>G (p.Gln1755Glu)
c.1609C>G (p.Gln537Glu)
c.5503C>G (p.Gln1835Glu)
c.5494C>G (p.Gln1832Glu)
c.5509C>G (p.Gln1837Glu)
Xg.32343241G>TCA412666209DMDc.478C>A (p.Gln160Lys)
c.5632C>A (p.Gln1878Lys)
c.1600C>A (p.Gln534Lys)
c.5620C>A (p.Gln1874Lys)
n.336-126178C>A
c.289C>A (p.Gln97Lys)
c.5608C>A (p.Gln1870Lys)
c.5263C>A (p.Gln1755Lys)
c.1609C>A (p.Gln537Lys)
c.5503C>A (p.Gln1835Lys)
c.5494C>A (p.Gln1832Lys)
c.5509C>A (p.Gln1837Lys)
Xg.32343242A>CCA412666212DMDc.477T>G (p.His159Gln)
c.5631T>G (p.His1877Gln)
c.1599T>G (p.His533Gln)
c.5619T>G (p.His1873Gln)
n.336-126179T>G
c.288T>G (p.His96Gln)
c.5607T>G (p.His1869Gln)
c.5262T>G (p.His1754Gln)
c.1608T>G (p.His536Gln)
c.5502T>G (p.His1834Gln)
c.5493T>G (p.His1831Gln)
c.5508T>G (p.His1836Gln)
Xg.32343242A>GCA515714093DMDc.477T>C (p.His159=)
c.5631T>C (p.His1877=)
c.1599T>C (p.His533=)
c.5619T>C (p.His1873=)
n.336-126179T>C
c.288T>C (p.His96=)
c.5607T>C (p.His1869=)
c.5262T>C (p.His1754=)
c.1608T>C (p.His536=)
c.5502T>C (p.His1834=)
c.5493T>C (p.His1831=)
c.5508T>C (p.His1836=)
Xg.32343242A>TCA412666216DMDc.477T>A (p.His159Gln)
c.5631T>A (p.His1877Gln)
c.1599T>A (p.His533Gln)
c.5619T>A (p.His1873Gln)
n.336-126179T>A
c.288T>A (p.His96Gln)
c.5607T>A (p.His1869Gln)
c.5262T>A (p.His1754Gln)
c.1608T>A (p.His536Gln)
c.5502T>A (p.His1834Gln)
c.5493T>A (p.His1831Gln)
c.5508T>A (p.His1836Gln)
Xg.32343243T>ACA412666217DMDc.476A>T (p.His159Leu)
c.5630A>T (p.His1877Leu)
c.1598A>T (p.His533Leu)
c.5618A>T (p.His1873Leu)
n.336-126180A>T
c.287A>T (p.His96Leu)
c.5606A>T (p.His1869Leu)
c.5261A>T (p.His1754Leu)
c.1607A>T (p.His536Leu)
c.5501A>T (p.His1834Leu)
c.5492A>T (p.His1831Leu)
c.5507A>T (p.His1836Leu)
 ClinVar dbSNP gnomAD v4
Xg.32343243T>CCA412666219DMDc.476A>G (p.His159Arg)
c.5630A>G (p.His1877Arg)
c.1598A>G (p.His533Arg)
c.5618A>G (p.His1873Arg)
n.336-126180A>G
c.287A>G (p.His96Arg)
c.5606A>G (p.His1869Arg)
c.5261A>G (p.His1754Arg)
c.1607A>G (p.His536Arg)
c.5501A>G (p.His1834Arg)
c.5492A>G (p.His1831Arg)
c.5507A>G (p.His1836Arg)
Xg.32343243T>GCA327982263DMDc.476A>C (p.His159Pro)
c.5630A>C (p.His1877Pro)
c.1598A>C (p.His533Pro)
c.5618A>C (p.His1873Pro)
n.336-126180A>C
c.287A>C (p.His96Pro)
c.5606A>C (p.His1869Pro)
c.5261A>C (p.His1754Pro)
c.1607A>C (p.His536Pro)
c.5501A>C (p.His1834Pro)
c.5492A>C (p.His1831Pro)
c.5507A>C (p.His1836Pro)
 dbSNP gnomAD v4
Xg.32343243T=CA2422760826DMDc.476A= (p.His159=)
c.5630A= (p.His1877=)
c.1598A= (p.His533=)
c.5618A= (p.His1873=)
n.336-126180A=
c.287A= (p.His96=)
c.5606A= (p.His1869=)
c.5261A= (p.His1754=)
c.1607A= (p.His536=)
c.5501A= (p.His1834=)
c.5492A= (p.His1831=)
c.5507A= (p.His1836=)
Xg.32343244G>ACA412666223DMDc.475C>T (p.His159Tyr)
c.5629C>T (p.His1877Tyr)
c.1597C>T (p.His533Tyr)
c.5617C>T (p.His1873Tyr)
n.336-126181C>T
c.286C>T (p.His96Tyr)
c.5605C>T (p.His1869Tyr)
c.5260C>T (p.His1754Tyr)
c.1606C>T (p.His536Tyr)
c.5500C>T (p.His1834Tyr)
c.5491C>T (p.His1831Tyr)
c.5506C>T (p.His1836Tyr)
 gnomAD v4
Xg.32343244G>CCA412666225DMDc.475C>G (p.His159Asp)
c.5629C>G (p.His1877Asp)
c.1597C>G (p.His533Asp)
c.5617C>G (p.His1873Asp)
n.336-126181C>G
c.286C>G (p.His96Asp)
c.5605C>G (p.His1869Asp)
c.5260C>G (p.His1754Asp)
c.1606C>G (p.His536Asp)
c.5500C>G (p.His1834Asp)
c.5491C>G (p.His1831Asp)
c.5506C>G (p.His1836Asp)
Xg.32343244G>TCA412666228DMDc.475C>A (p.His159Asn)
c.5629C>A (p.His1877Asn)
c.1597C>A (p.His533Asn)
c.5617C>A (p.His1873Asn)
n.336-126181C>A
c.286C>A (p.His96Asn)
c.5605C>A (p.His1869Asn)
c.5260C>A (p.His1754Asn)
c.1606C>A (p.His536Asn)
c.5500C>A (p.His1834Asn)
c.5491C>A (p.His1831Asn)
c.5506C>A (p.His1836Asn)
 COSMIC COSMIC COSMIC COSMIC
Xg.32343245A>CCA515714100DMDc.474T>G (p.Ser158=)
c.5628T>G (p.Ser1876=)
c.1596T>G (p.Ser532=)
c.5616T>G (p.Ser1872=)
n.336-126182T>G
c.285T>G (p.Ser95=)
c.5604T>G (p.Ser1868=)
c.5259T>G (p.Ser1753=)
c.1605T>G (p.Ser535=)
c.5499T>G (p.Ser1833=)
c.5490T>G (p.Ser1830=)
c.5505T>G (p.Ser1835=)
Xg.32343245A>GCA515714102DMDc.474T>C (p.Ser158=)
c.5628T>C (p.Ser1876=)
c.1596T>C (p.Ser532=)
c.5616T>C (p.Ser1872=)
n.336-126182T>C
c.285T>C (p.Ser95=)
c.5604T>C (p.Ser1868=)
c.5259T>C (p.Ser1753=)
c.1605T>C (p.Ser535=)
c.5499T>C (p.Ser1833=)
c.5490T>C (p.Ser1830=)
c.5505T>C (p.Ser1835=)
Xg.32343245A>TCA515714104DMDc.474T>A (p.Ser158=)
c.5628T>A (p.Ser1876=)
c.1596T>A (p.Ser532=)
c.5616T>A (p.Ser1872=)
n.336-126182T>A
c.285T>A (p.Ser95=)
c.5604T>A (p.Ser1868=)
c.5259T>A (p.Ser1753=)
c.1605T>A (p.Ser535=)
c.5499T>A (p.Ser1833=)
c.5490T>A (p.Ser1830=)
c.5505T>A (p.Ser1835=)
Xg.32343246G>ACA412666231DMDc.473C>T (p.Ser158Phe)
c.5627C>T (p.Ser1876Phe)
c.1595C>T (p.Ser532Phe)
c.5615C>T (p.Ser1872Phe)
n.336-126183C>T
c.284C>T (p.Ser95Phe)
c.5603C>T (p.Ser1868Phe)
c.5258C>T (p.Ser1753Phe)
c.1604C>T (p.Ser535Phe)
c.5498C>T (p.Ser1833Phe)
c.5489C>T (p.Ser1830Phe)
c.5504C>T (p.Ser1835Phe)
Xg.32343246G>CCA412666234DMDc.473C>G (p.Ser158Cys)
c.5627C>G (p.Ser1876Cys)
c.1595C>G (p.Ser532Cys)
c.5615C>G (p.Ser1872Cys)
n.336-126183C>G
c.284C>G (p.Ser95Cys)
c.5603C>G (p.Ser1868Cys)
c.5258C>G (p.Ser1753Cys)
c.1604C>G (p.Ser535Cys)
c.5498C>G (p.Ser1833Cys)
c.5489C>G (p.Ser1830Cys)
c.5504C>G (p.Ser1835Cys)
Xg.32343246G>TCA412666244DMDc.473C>A (p.Ser158Tyr)
c.5627C>A (p.Ser1876Tyr)
c.1595C>A (p.Ser532Tyr)
c.5615C>A (p.Ser1872Tyr)
n.336-126183C>A
c.284C>A (p.Ser95Tyr)
c.5603C>A (p.Ser1868Tyr)
c.5258C>A (p.Ser1753Tyr)
c.1604C>A (p.Ser535Tyr)
c.5498C>A (p.Ser1833Tyr)
c.5489C>A (p.Ser1830Tyr)
c.5504C>A (p.Ser1835Tyr)
 COSMIC COSMIC
Xg.32343247A>CCA412666256DMDc.472T>G (p.Ser158Ala)
c.5626T>G (p.Ser1876Ala)
c.1594T>G (p.Ser532Ala)
c.5614T>G (p.Ser1872Ala)
n.336-126184T>G
c.283T>G (p.Ser95Ala)
c.5602T>G (p.Ser1868Ala)
c.5257T>G (p.Ser1753Ala)
c.1603T>G (p.Ser535Ala)
c.5497T>G (p.Ser1833Ala)
c.5488T>G (p.Ser1830Ala)
c.5503T>G (p.Ser1835Ala)
Xg.32343247A>GCA412666255DMDc.472T>C (p.Ser158Pro)
c.5626T>C (p.Ser1876Pro)
c.1594T>C (p.Ser532Pro)
c.5614T>C (p.Ser1872Pro)
n.336-126184T>C
c.283T>C (p.Ser95Pro)
c.5602T>C (p.Ser1868Pro)
c.5257T>C (p.Ser1753Pro)
c.1603T>C (p.Ser535Pro)
c.5497T>C (p.Ser1833Pro)
c.5488T>C (p.Ser1830Pro)
c.5503T>C (p.Ser1835Pro)
Xg.32343247A>TCA412666249DMDc.472T>A (p.Ser158Thr)
c.5626T>A (p.Ser1876Thr)
c.1594T>A (p.Ser532Thr)
c.5614T>A (p.Ser1872Thr)
n.336-126184T>A
c.283T>A (p.Ser95Thr)
c.5602T>A (p.Ser1868Thr)
c.5257T>A (p.Ser1753Thr)
c.1603T>A (p.Ser535Thr)
c.5497T>A (p.Ser1833Thr)
c.5488T>A (p.Ser1830Thr)
c.5503T>A (p.Ser1835Thr)
Xg.32343248A=CA2422760827DMDc.471T= (p.Ile157=)
c.5625T= (p.Ile1875=)
c.1593T= (p.Ile531=)
c.5613T= (p.Ile1871=)
n.336-126185T=
c.282T= (p.Ile94=)
c.5601T= (p.Ile1867=)
c.5256T= (p.Ile1752=)
c.1602T= (p.Ile534=)
c.5496T= (p.Ile1832=)
c.5487T= (p.Ile1829=)
c.5502T= (p.Ile1834=)
Xg.32343248A>CCA412666257DMDc.471T>G (p.Ile157Met)
c.5625T>G (p.Ile1875Met)
c.1593T>G (p.Ile531Met)
c.5613T>G (p.Ile1871Met)
n.336-126185T>G
c.282T>G (p.Ile94Met)
c.5601T>G (p.Ile1867Met)
c.5256T>G (p.Ile1752Met)
c.1602T>G (p.Ile534Met)
c.5496T>G (p.Ile1832Met)
c.5487T>G (p.Ile1829Met)
c.5502T>G (p.Ile1834Met)
Xg.32343248A>GCA515714111DMDc.471T>C (p.Ile157=)
c.5625T>C (p.Ile1875=)
c.1593T>C (p.Ile531=)
c.5613T>C (p.Ile1871=)
n.336-126185T>C
c.282T>C (p.Ile94=)
c.5601T>C (p.Ile1867=)
c.5256T>C (p.Ile1752=)
c.1602T>C (p.Ile534=)
c.5496T>C (p.Ile1832=)
c.5487T>C (p.Ile1829=)
c.5502T>C (p.Ile1834=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32343248A>TCA515714113DMDc.471T>A (p.Ile157=)
c.5625T>A (p.Ile1875=)
c.1593T>A (p.Ile531=)
c.5613T>A (p.Ile1871=)
n.336-126185T>A
c.282T>A (p.Ile94=)
c.5601T>A (p.Ile1867=)
c.5256T>A (p.Ile1752=)
c.1602T>A (p.Ile534=)
c.5496T>A (p.Ile1832=)
c.5487T>A (p.Ile1829=)
c.5502T>A (p.Ile1834=)
Xg.32343249A>CCA412666260DMDc.470T>G (p.Ile157Ser)
c.5624T>G (p.Ile1875Ser)
c.1592T>G (p.Ile531Ser)
c.5612T>G (p.Ile1871Ser)
n.336-126186T>G
c.281T>G (p.Ile94Ser)
c.5600T>G (p.Ile1867Ser)
c.5255T>G (p.Ile1752Ser)
c.1601T>G (p.Ile534Ser)
c.5495T>G (p.Ile1832Ser)
c.5486T>G (p.Ile1829Ser)
c.5501T>G (p.Ile1834Ser)
Xg.32343249A>GCA412666262DMDc.470T>C (p.Ile157Thr)
c.5624T>C (p.Ile1875Thr)
c.1592T>C (p.Ile531Thr)
c.5612T>C (p.Ile1871Thr)
n.336-126186T>C
c.281T>C (p.Ile94Thr)
c.5600T>C (p.Ile1867Thr)
c.5255T>C (p.Ile1752Thr)
c.1601T>C (p.Ile534Thr)
c.5495T>C (p.Ile1832Thr)
c.5486T>C (p.Ile1829Thr)
c.5501T>C (p.Ile1834Thr)
Xg.32343249A>TCA412666264DMDc.470T>A (p.Ile157Asn)
c.5624T>A (p.Ile1875Asn)
c.1592T>A (p.Ile531Asn)
c.5612T>A (p.Ile1871Asn)
n.336-126186T>A
c.281T>A (p.Ile94Asn)
c.5600T>A (p.Ile1867Asn)
c.5255T>A (p.Ile1752Asn)
c.1601T>A (p.Ile534Asn)
c.5495T>A (p.Ile1832Asn)
c.5486T>A (p.Ile1829Asn)
c.5501T>A (p.Ile1834Asn)
Xg.32343250T>ACA412666267DMDc.469A>T (p.Ile157Phe)
c.5623A>T (p.Ile1875Phe)
c.1591A>T (p.Ile531Phe)
c.5611A>T (p.Ile1871Phe)
n.336-126187A>T
c.280A>T (p.Ile94Phe)
c.5599A>T (p.Ile1867Phe)
c.5254A>T (p.Ile1752Phe)
c.1600A>T (p.Ile534Phe)
c.5494A>T (p.Ile1832Phe)
c.5485A>T (p.Ile1829Phe)
c.5500A>T (p.Ile1834Phe)
Xg.32343250T>CCA412666270DMDc.469A>G (p.Ile157Val)
c.5623A>G (p.Ile1875Val)
c.1591A>G (p.Ile531Val)
c.5611A>G (p.Ile1871Val)
n.336-126187A>G
c.280A>G (p.Ile94Val)
c.5599A>G (p.Ile1867Val)
c.5254A>G (p.Ile1752Val)
c.1600A>G (p.Ile534Val)
c.5494A>G (p.Ile1832Val)
c.5485A>G (p.Ile1829Val)
c.5500A>G (p.Ile1834Val)
Xg.32343250T>GCA412666272DMDc.469A>C (p.Ile157Leu)
c.5623A>C (p.Ile1875Leu)
c.1591A>C (p.Ile531Leu)
c.5611A>C (p.Ile1871Leu)
n.336-126187A>C
c.280A>C (p.Ile94Leu)
c.5599A>C (p.Ile1867Leu)
c.5254A>C (p.Ile1752Leu)
c.1600A>C (p.Ile534Leu)
c.5494A>C (p.Ile1832Leu)
c.5485A>C (p.Ile1829Leu)
c.5500A>C (p.Ile1834Leu)
 COSMIC COSMIC COSMIC COSMIC
Xg.32343251T>ACA412666274DMDc.468A>T (p.Glu156Asp)
c.5622A>T (p.Glu1874Asp)
c.1590A>T (p.Glu530Asp)
c.5610A>T (p.Glu1870Asp)
n.336-126188A>T
c.279A>T (p.Glu93Asp)
c.5598A>T (p.Glu1866Asp)
c.5253A>T (p.Glu1751Asp)
c.1599A>T (p.Glu533Asp)
c.5493A>T (p.Glu1831Asp)
c.5484A>T (p.Glu1828Asp)
c.5499A>T (p.Glu1833Asp)
Xg.32343251T>CCA515714122DMDc.468A>G (p.Glu156=)
c.5622A>G (p.Glu1874=)
c.1590A>G (p.Glu530=)
c.5610A>G (p.Glu1870=)
n.336-126188A>G
c.279A>G (p.Glu93=)
c.5598A>G (p.Glu1866=)
c.5253A>G (p.Glu1751=)
c.1599A>G (p.Glu533=)
c.5493A>G (p.Glu1831=)
c.5484A>G (p.Glu1828=)
c.5499A>G (p.Glu1833=)
Xg.32343251T>GCA412666273DMDc.468A>C (p.Glu156Asp)
c.5622A>C (p.Glu1874Asp)
c.1590A>C (p.Glu530Asp)
c.5610A>C (p.Glu1870Asp)
n.336-126188A>C
c.279A>C (p.Glu93Asp)
c.5598A>C (p.Glu1866Asp)
c.5253A>C (p.Glu1751Asp)
c.1599A>C (p.Glu533Asp)
c.5493A>C (p.Glu1831Asp)
c.5484A>C (p.Glu1828Asp)
c.5499A>C (p.Glu1833Asp)
Xg.32343251_32343252insATCA2695232743DMDc.468_469insTA (p.Ile157Ter)
c.5622_5623insTA (p.Ile1875Ter)
c.1590_1591insTA (p.Ile531Ter)
c.5610_5611insTA (p.Ile1871Ter)
n.336-126188_336-126187insTA
c.279_280insTA (p.Ile94Ter)
c.5598_5599insTA (p.Ile1867Ter)
c.5253_5254insTA (p.Ile1752Ter)
c.1599_1600insTA (p.Ile534Ter)
c.5493_5494insTA (p.Ile1832Ter)
c.5484_5485insTA (p.Ile1829Ter)
c.5499_5500insTA (p.Ile1834Ter)
Xg.32343252T>ACA412666277DMDc.467A>T (p.Glu156Val)
c.5621A>T (p.Glu1874Val)
c.1589A>T (p.Glu530Val)
c.5609A>T (p.Glu1870Val)
n.336-126189A>T
c.278A>T (p.Glu93Val)
c.5597A>T (p.Glu1866Val)
c.5252A>T (p.Glu1751Val)
c.1598A>T (p.Glu533Val)
c.5492A>T (p.Glu1831Val)
c.5483A>T (p.Glu1828Val)
c.5498A>T (p.Glu1833Val)
Xg.32343252T>CCA412666282DMDc.467A>G (p.Glu156Gly)
c.5621A>G (p.Glu1874Gly)
c.1589A>G (p.Glu530Gly)
c.5609A>G (p.Glu1870Gly)
n.336-126189A>G
c.278A>G (p.Glu93Gly)
c.5597A>G (p.Glu1866Gly)
c.5252A>G (p.Glu1751Gly)
c.1598A>G (p.Glu533Gly)
c.5492A>G (p.Glu1831Gly)
c.5483A>G (p.Glu1828Gly)
c.5498A>G (p.Glu1833Gly)
Xg.32343252T>GCA412666283DMDc.467A>C (p.Glu156Ala)
c.5621A>C (p.Glu1874Ala)
c.1589A>C (p.Glu530Ala)
c.5609A>C (p.Glu1870Ala)
n.336-126189A>C
c.278A>C (p.Glu93Ala)
c.5597A>C (p.Glu1866Ala)
c.5252A>C (p.Glu1751Ala)
c.1598A>C (p.Glu533Ala)
c.5492A>C (p.Glu1831Ala)
c.5483A>C (p.Glu1828Ala)
c.5498A>C (p.Glu1833Ala)
Xg.32343253C>ACA412666286DMDc.466G>T (p.Glu156Ter)
c.5620G>T (p.Glu1874Ter)
c.1588G>T (p.Glu530Ter)
c.5608G>T (p.Glu1870Ter)
n.336-126190G>T
c.277G>T (p.Glu93Ter)
c.5596G>T (p.Glu1866Ter)
c.5251G>T (p.Glu1751Ter)
c.1597G>T (p.Glu533Ter)
c.5491G>T (p.Glu1831Ter)
c.5482G>T (p.Glu1828Ter)
c.5497G>T (p.Glu1833Ter)
Xg.32343253C=CA2422760828DMDc.466G= (p.Glu156=)
c.5620G= (p.Glu1874=)
c.1588G= (p.Glu530=)
c.5608G= (p.Glu1870=)
n.336-126190G=
c.277G= (p.Glu93=)
c.5596G= (p.Glu1866=)
c.5251G= (p.Glu1751=)
c.1597G= (p.Glu533=)
c.5491G= (p.Glu1831=)
c.5482G= (p.Glu1828=)
c.5497G= (p.Glu1833=)
Xg.32343253C>GCA412666289DMDc.466G>C (p.Glu156Gln)
c.5620G>C (p.Glu1874Gln)
c.1588G>C (p.Glu530Gln)
c.5608G>C (p.Glu1870Gln)
n.336-126190G>C
c.277G>C (p.Glu93Gln)
c.5596G>C (p.Glu1866Gln)
c.5251G>C (p.Glu1751Gln)
c.1597G>C (p.Glu533Gln)
c.5491G>C (p.Glu1831Gln)
c.5482G>C (p.Glu1828Gln)
c.5497G>C (p.Glu1833Gln)
Xg.32343253C>TCA147834DMDc.466G>A (p.Glu156Lys)
c.5620G>A (p.Glu1874Lys)
c.1588G>A (p.Glu530Lys)
c.5608G>A (p.Glu1870Lys)
n.336-126190G>A
c.277G>A (p.Glu93Lys)
c.5596G>A (p.Glu1866Lys)
c.5251G>A (p.Glu1751Lys)
c.1597G>A (p.Glu533Lys)
c.5491G>A (p.Glu1831Lys)
c.5482G>A (p.Glu1828Lys)
c.5497G>A (p.Glu1833Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343254T>ACA515714132DMDc.465A>T (p.Leu155=)
c.5619A>T (p.Leu1873=)
c.1587A>T (p.Leu529=)
c.5607A>T (p.Leu1869=)
n.336-126191A>T
c.276A>T (p.Leu92=)
c.5595A>T (p.Leu1865=)
c.5250A>T (p.Leu1750=)
c.1596A>T (p.Leu532=)
c.5490A>T (p.Leu1830=)
c.5481A>T (p.Leu1827=)
c.5496A>T (p.Leu1832=)
Xg.32343254T>CCA515714134DMDc.465A>G (p.Leu155=)
c.5619A>G (p.Leu1873=)
c.1587A>G (p.Leu529=)
c.5607A>G (p.Leu1869=)
n.336-126191A>G
c.276A>G (p.Leu92=)
c.5595A>G (p.Leu1865=)
c.5250A>G (p.Leu1750=)
c.1596A>G (p.Leu532=)
c.5490A>G (p.Leu1830=)
c.5481A>G (p.Leu1827=)
c.5496A>G (p.Leu1832=)
 ClinVar dbSNP gnomAD v4
Xg.32343254T>GCA515714136DMDc.465A>C (p.Leu155=)
c.5619A>C (p.Leu1873=)
c.1587A>C (p.Leu529=)
c.5607A>C (p.Leu1869=)
n.336-126191A>C
c.276A>C (p.Leu92=)
c.5595A>C (p.Leu1865=)
c.5250A>C (p.Leu1750=)
c.1596A>C (p.Leu532=)
c.5490A>C (p.Leu1830=)
c.5481A>C (p.Leu1827=)
c.5496A>C (p.Leu1832=)
Xg.32343254T=CA2422760829DMDc.465A= (p.Leu155=)
c.5619A= (p.Leu1873=)
c.1587A= (p.Leu529=)
c.5607A= (p.Leu1869=)
n.336-126191A=
c.276A= (p.Leu92=)
c.5595A= (p.Leu1865=)
c.5250A= (p.Leu1750=)
c.1596A= (p.Leu532=)
c.5490A= (p.Leu1830=)
c.5481A= (p.Leu1827=)
c.5496A= (p.Leu1832=)
Xg.32343255A>CCA412666294DMDc.464T>G (p.Leu155Arg)
c.5618T>G (p.Leu1873Arg)
c.1586T>G (p.Leu529Arg)
c.5606T>G (p.Leu1869Arg)
n.336-126192T>G
c.275T>G (p.Leu92Arg)
c.5594T>G (p.Leu1865Arg)
c.5249T>G (p.Leu1750Arg)
c.1595T>G (p.Leu532Arg)
c.5489T>G (p.Leu1830Arg)
c.5480T>G (p.Leu1827Arg)
c.5495T>G (p.Leu1832Arg)
Xg.32343255A>GCA412666310DMDc.464T>C (p.Leu155Pro)
c.5618T>C (p.Leu1873Pro)
c.1586T>C (p.Leu529Pro)
c.5606T>C (p.Leu1869Pro)
n.336-126192T>C
c.275T>C (p.Leu92Pro)
c.5594T>C (p.Leu1865Pro)
c.5249T>C (p.Leu1750Pro)
c.1595T>C (p.Leu532Pro)
c.5489T>C (p.Leu1830Pro)
c.5480T>C (p.Leu1827Pro)
c.5495T>C (p.Leu1832Pro)
Xg.32343255A>TCA412666297DMDc.464T>A (p.Leu155Gln)
c.5618T>A (p.Leu1873Gln)
c.1586T>A (p.Leu529Gln)
c.5606T>A (p.Leu1869Gln)
n.336-126192T>A
c.275T>A (p.Leu92Gln)
c.5594T>A (p.Leu1865Gln)
c.5249T>A (p.Leu1750Gln)
c.1595T>A (p.Leu532Gln)
c.5489T>A (p.Leu1830Gln)
c.5480T>A (p.Leu1827Gln)
c.5495T>A (p.Leu1832Gln)
Xg.32343257_32343258delCA2579579439DMDc.463_464del (p.Leu155ArgfsTer14)
c.5617_5618del (p.Leu1873ArgfsTer14)
c.1585_1586del (p.Leu529ArgfsTer14)
c.5605_5606del (p.Leu1869ArgfsTer14)
n.336-126193_336-126192del
c.274_275del (p.Leu92ArgfsTer14)
c.5593_5594del (p.Leu1865ArgfsTer14)
c.5248_5249del (p.Leu1750ArgfsTer14)
c.1594_1595del (p.Leu532ArgfsTer14)
c.5488_5489del (p.Leu1830ArgfsTer14)
c.5479_5480del (p.Leu1827ArgfsTer14)
c.5494_5495del (p.Leu1832ArgfsTer14)
Xg.32343256G>ACA515714140DMDc.463C>T (p.Leu155=)
c.5617C>T (p.Leu1873=)
c.1585C>T (p.Leu529=)
c.5605C>T (p.Leu1869=)
n.336-126193C>T
c.274C>T (p.Leu92=)
c.5593C>T (p.Leu1865=)
c.5248C>T (p.Leu1750=)
c.1594C>T (p.Leu532=)
c.5488C>T (p.Leu1830=)
c.5479C>T (p.Leu1827=)
c.5494C>T (p.Leu1832=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32343256G>CCA10378628DMDc.463C>G (p.Leu155Val)
c.5617C>G (p.Leu1873Val)
c.1585C>G (p.Leu529Val)
c.5605C>G (p.Leu1869Val)
n.336-126193C>G
c.274C>G (p.Leu92Val)
c.5593C>G (p.Leu1865Val)
c.5248C>G (p.Leu1750Val)
c.1594C>G (p.Leu532Val)
c.5488C>G (p.Leu1830Val)
c.5479C>G (p.Leu1827Val)
c.5494C>G (p.Leu1832Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343256G=CA2422760830DMDc.463C= (p.Leu155=)
c.5617C= (p.Leu1873=)
c.1585C= (p.Leu529=)
c.5605C= (p.Leu1869=)
n.336-126193C=
c.274C= (p.Leu92=)
c.5593C= (p.Leu1865=)
c.5248C= (p.Leu1750=)
c.1594C= (p.Leu532=)
c.5488C= (p.Leu1830=)
c.5479C= (p.Leu1827=)
c.5494C= (p.Leu1832=)
Xg.32343256G>TCA412666316DMDc.463C>A (p.Leu155Ile)
c.5617C>A (p.Leu1873Ile)
c.1585C>A (p.Leu529Ile)
c.5605C>A (p.Leu1869Ile)
n.336-126193C>A
c.274C>A (p.Leu92Ile)
c.5593C>A (p.Leu1865Ile)
c.5248C>A (p.Leu1750Ile)
c.1594C>A (p.Leu532Ile)
c.5488C>A (p.Leu1830Ile)
c.5479C>A (p.Leu1827Ile)
c.5494C>A (p.Leu1832Ile)
Xg.32343257A>CCA515714144DMDc.462T>G (p.Ala154=)
c.5616T>G (p.Ala1872=)
c.1584T>G (p.Ala528=)
c.5604T>G (p.Ala1868=)
n.336-126194T>G
c.273T>G (p.Ala91=)
c.5592T>G (p.Ala1864=)
c.5247T>G (p.Ala1749=)
c.1593T>G (p.Ala531=)
c.5487T>G (p.Ala1829=)
c.5478T>G (p.Ala1826=)
c.5493T>G (p.Ala1831=)
Xg.32343257A>GCA515714148DMDc.462T>C (p.Ala154=)
c.5616T>C (p.Ala1872=)
c.1584T>C (p.Ala528=)
c.5604T>C (p.Ala1868=)
n.336-126194T>C
c.273T>C (p.Ala91=)
c.5592T>C (p.Ala1864=)
c.5247T>C (p.Ala1749=)
c.1593T>C (p.Ala531=)
c.5487T>C (p.Ala1829=)
c.5478T>C (p.Ala1826=)
c.5493T>C (p.Ala1831=)
Xg.32343257A>TCA515714146DMDc.462T>A (p.Ala154=)
c.5616T>A (p.Ala1872=)
c.1584T>A (p.Ala528=)
c.5604T>A (p.Ala1868=)
n.336-126194T>A
c.273T>A (p.Ala91=)
c.5592T>A (p.Ala1864=)
c.5247T>A (p.Ala1749=)
c.1593T>A (p.Ala531=)
c.5487T>A (p.Ala1829=)
c.5478T>A (p.Ala1826=)
c.5493T>A (p.Ala1831=)
Xg.32343258G>ACA412666319DMDc.461C>T (p.Ala154Val)
c.5615C>T (p.Ala1872Val)
c.1583C>T (p.Ala528Val)
c.5603C>T (p.Ala1868Val)
n.336-126195C>T
c.272C>T (p.Ala91Val)
c.5591C>T (p.Ala1864Val)
c.5246C>T (p.Ala1749Val)
c.1592C>T (p.Ala531Val)
c.5486C>T (p.Ala1829Val)
c.5477C>T (p.Ala1826Val)
c.5492C>T (p.Ala1831Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32343258G>CCA412666322DMDc.461C>G (p.Ala154Gly)
c.5615C>G (p.Ala1872Gly)
c.1583C>G (p.Ala528Gly)
c.5603C>G (p.Ala1868Gly)
n.336-126195C>G
c.272C>G (p.Ala91Gly)
c.5591C>G (p.Ala1864Gly)
c.5246C>G (p.Ala1749Gly)
c.1592C>G (p.Ala531Gly)
c.5486C>G (p.Ala1829Gly)
c.5477C>G (p.Ala1826Gly)
c.5492C>G (p.Ala1831Gly)
Xg.32343258G=CA2422760831DMDc.461C= (p.Ala154=)
c.5615C= (p.Ala1872=)
c.1583C= (p.Ala528=)
c.5603C= (p.Ala1868=)
n.336-126195C=
c.272C= (p.Ala91=)
c.5591C= (p.Ala1864=)
c.5246C= (p.Ala1749=)
c.1592C= (p.Ala531=)
c.5486C= (p.Ala1829=)
c.5477C= (p.Ala1826=)
c.5492C= (p.Ala1831=)
Xg.32343258G>TCA10378629DMDc.461C>A (p.Ala154Asp)
c.5615C>A (p.Ala1872Asp)
c.1583C>A (p.Ala528Asp)
c.5603C>A (p.Ala1868Asp)
n.336-126195C>A
c.272C>A (p.Ala91Asp)
c.5591C>A (p.Ala1864Asp)
c.5246C>A (p.Ala1749Asp)
c.1592C>A (p.Ala531Asp)
c.5486C>A (p.Ala1829Asp)
c.5477C>A (p.Ala1826Asp)
c.5492C>A (p.Ala1831Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343258_32343263delinsACA2695232744DMDc.456_461delinsT (p.Lys152AsnfsTer16)
c.5610_5615delinsT (p.Lys1870AsnfsTer16)
c.1578_1583delinsT (p.Lys526AsnfsTer16)
c.5598_5603delinsT (p.Lys1866AsnfsTer16)
n.336-126200_336-126195delinsT
c.267_272delinsT (p.Lys89AsnfsTer16)
c.5586_5591delinsT (p.Lys1862AsnfsTer16)
c.5241_5246delinsT (p.Lys1747AsnfsTer16)
c.1587_1592delinsT (p.Lys529AsnfsTer16)
c.5481_5486delinsT (p.Lys1827AsnfsTer16)
c.5472_5477delinsT (p.Lys1824AsnfsTer16)
c.5487_5492delinsT (p.Lys1829AsnfsTer16)
Xg.32343259C>ACA412666328DMDc.460G>T (p.Ala154Ser)
c.5614G>T (p.Ala1872Ser)
c.1582G>T (p.Ala528Ser)
c.5602G>T (p.Ala1868Ser)
n.336-126196G>T
c.271G>T (p.Ala91Ser)
c.5590G>T (p.Ala1864Ser)
c.5245G>T (p.Ala1749Ser)
c.1591G>T (p.Ala531Ser)
c.5485G>T (p.Ala1829Ser)
c.5476G>T (p.Ala1826Ser)
c.5491G>T (p.Ala1831Ser)
Xg.32343259C>GCA412666329DMDc.460G>C (p.Ala154Pro)
c.5614G>C (p.Ala1872Pro)
c.1582G>C (p.Ala528Pro)
c.5602G>C (p.Ala1868Pro)
n.336-126196G>C
c.271G>C (p.Ala91Pro)
c.5590G>C (p.Ala1864Pro)
c.5245G>C (p.Ala1749Pro)
c.1591G>C (p.Ala531Pro)
c.5485G>C (p.Ala1829Pro)
c.5476G>C (p.Ala1826Pro)
c.5491G>C (p.Ala1831Pro)
Xg.32343259C>TCA412666330DMDc.460G>A (p.Ala154Thr)
c.5614G>A (p.Ala1872Thr)
c.1582G>A (p.Ala528Thr)
c.5602G>A (p.Ala1868Thr)
n.336-126196G>A
c.271G>A (p.Ala91Thr)
c.5590G>A (p.Ala1864Thr)
c.5245G>A (p.Ala1749Thr)
c.1591G>A (p.Ala531Thr)
c.5485G>A (p.Ala1829Thr)
c.5476G>A (p.Ala1826Thr)
c.5491G>A (p.Ala1831Thr)
Xg.32343260delCA2695232746DMDc.460del (p.Ala154LeufsTer2)
c.5614del (p.Ala1872LeufsTer2)
c.1582del (p.Ala528LeufsTer2)
c.5602del (p.Ala1868LeufsTer2)
n.336-126196del
c.271del (p.Ala91LeufsTer2)
c.5590del (p.Ala1864LeufsTer2)
c.5245del (p.Ala1749LeufsTer2)
c.1591del (p.Ala531LeufsTer2)
c.5485del (p.Ala1829LeufsTer2)
c.5476del (p.Ala1826LeufsTer2)
c.5491del (p.Ala1831LeufsTer2)
Xg.32343260_32343267delCA2695232745DMDc.453_460del (p.Arg151SerfsTer16)
c.5607_5614del (p.Arg1869SerfsTer16)
c.1575_1582del (p.Arg525SerfsTer16)
c.5595_5602del (p.Arg1865SerfsTer16)
n.336-126203_336-126196del
c.264_271del (p.Arg88SerfsTer16)
c.5583_5590del (p.Arg1861SerfsTer16)
c.5238_5245del (p.Arg1746SerfsTer16)
c.1584_1591del (p.Arg528SerfsTer16)
c.5478_5485del (p.Arg1826SerfsTer16)
c.5469_5476del (p.Arg1823SerfsTer16)
c.5484_5491del (p.Arg1828SerfsTer16)
Xg.32343260C>ACA412666331DMDc.459G>T (p.Lys153Asn)
c.5613G>T (p.Lys1871Asn)
c.1581G>T (p.Lys527Asn)
c.5601G>T (p.Lys1867Asn)
n.336-126197G>T
c.270G>T (p.Lys90Asn)
c.5589G>T (p.Lys1863Asn)
c.5244G>T (p.Lys1748Asn)
c.1590G>T (p.Lys530Asn)
c.5484G>T (p.Lys1828Asn)
c.5475G>T (p.Lys1825Asn)
c.5490G>T (p.Lys1830Asn)
Xg.32343260C=CA2422760832DMDc.459G= (p.Lys153=)
c.5613G= (p.Lys1871=)
c.1581G= (p.Lys527=)
c.5601G= (p.Lys1867=)
n.336-126197G=
c.270G= (p.Lys90=)
c.5589G= (p.Lys1863=)
c.5244G= (p.Lys1748=)
c.1590G= (p.Lys530=)
c.5484G= (p.Lys1828=)
c.5475G= (p.Lys1825=)
c.5490G= (p.Lys1830=)
Xg.32343260C>GCA412666333DMDc.459G>C (p.Lys153Asn)
c.5613G>C (p.Lys1871Asn)
c.1581G>C (p.Lys527Asn)
c.5601G>C (p.Lys1867Asn)
n.336-126197G>C
c.270G>C (p.Lys90Asn)
c.5589G>C (p.Lys1863Asn)
c.5244G>C (p.Lys1748Asn)
c.1590G>C (p.Lys530Asn)
c.5484G>C (p.Lys1828Asn)
c.5475G>C (p.Lys1825Asn)
c.5490G>C (p.Lys1830Asn)
 dbSNP gnomAD v2 gnomAD v4
Xg.32343260C>TCA10378630DMDc.459G>A (p.Lys153=)
c.5613G>A (p.Lys1871=)
c.1581G>A (p.Lys527=)
c.5601G>A (p.Lys1867=)
n.336-126197G>A
c.270G>A (p.Lys90=)
c.5589G>A (p.Lys1863=)
c.5244G>A (p.Lys1748=)
c.1590G>A (p.Lys530=)
c.5484G>A (p.Lys1828=)
c.5475G>A (p.Lys1825=)
c.5490G>A (p.Lys1830=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32343261T>ACA412666340DMDc.458A>T (p.Lys153Met)
c.5612A>T (p.Lys1871Met)
c.1580A>T (p.Lys527Met)
c.5600A>T (p.Lys1867Met)
n.336-126198A>T
c.269A>T (p.Lys90Met)
c.5588A>T (p.Lys1863Met)
c.5243A>T (p.Lys1748Met)
c.1589A>T (p.Lys530Met)
c.5483A>T (p.Lys1828Met)
c.5474A>T (p.Lys1825Met)
c.5489A>T (p.Lys1830Met)
 ClinVar dbSNP gnomAD v4
Xg.32343261T>CCA412666345DMDc.458A>G (p.Lys153Arg)
c.5612A>G (p.Lys1871Arg)
c.1580A>G (p.Lys527Arg)
c.5600A>G (p.Lys1867Arg)
n.336-126198A>G
c.269A>G (p.Lys90Arg)
c.5588A>G (p.Lys1863Arg)
c.5243A>G (p.Lys1748Arg)
c.1589A>G (p.Lys530Arg)
c.5483A>G (p.Lys1828Arg)
c.5474A>G (p.Lys1825Arg)
c.5489A>G (p.Lys1830Arg)
Xg.32343261T>GCA412666342DMDc.458A>C (p.Lys153Thr)
c.5612A>C (p.Lys1871Thr)
c.1580A>C (p.Lys527Thr)
c.5600A>C (p.Lys1867Thr)
n.336-126198A>C
c.269A>C (p.Lys90Thr)
c.5588A>C (p.Lys1863Thr)
c.5243A>C (p.Lys1748Thr)
c.1589A>C (p.Lys530Thr)
c.5483A>C (p.Lys1828Thr)
c.5474A>C (p.Lys1825Thr)
c.5489A>C (p.Lys1830Thr)
Xg.32343261T=CA2422760833DMDc.458A= (p.Lys153=)
c.5612A= (p.Lys1871=)
c.1580A= (p.Lys527=)
c.5600A= (p.Lys1867=)
n.336-126198A=
c.269A= (p.Lys90=)
c.5588A= (p.Lys1863=)
c.5243A= (p.Lys1748=)
c.1589A= (p.Lys530=)
c.5483A= (p.Lys1828=)
c.5474A= (p.Lys1825=)
c.5489A= (p.Lys1830=)
Xg.32343266dupCA2739268179DMDc.458dup (p.Ala154GlyfsTer16)
c.5612dup (p.Ala1872GlyfsTer16)
c.1580dup (p.Ala528GlyfsTer16)
c.5600dup (p.Ala1868GlyfsTer16)
n.336-126198dup
c.269dup (p.Ala91GlyfsTer16)
c.5588dup (p.Ala1864GlyfsTer16)
c.5243dup (p.Ala1749GlyfsTer16)
c.1589dup (p.Ala531GlyfsTer16)
c.5483dup (p.Ala1829GlyfsTer16)
c.5474dup (p.Ala1826GlyfsTer16)
c.5489dup (p.Ala1831GlyfsTer16)
 ClinVar
Xg.32343266delCA2693393768DMDc.458del (p.Lys153ArgfsTer3)
c.5612del (p.Lys1871ArgfsTer3)
c.1580del (p.Lys527ArgfsTer3)
c.5600del (p.Lys1867ArgfsTer3)
n.336-126198del
c.269del (p.Lys90ArgfsTer3)
c.5588del (p.Lys1863ArgfsTer3)
c.5243del (p.Lys1748ArgfsTer3)
c.1589del (p.Lys530ArgfsTer3)
c.5483del (p.Lys1828ArgfsTer3)
c.5474del (p.Lys1825ArgfsTer3)
c.5489del (p.Lys1830ArgfsTer3)
 gnomAD v4
Xg.32343262T>ACA412666349DMDc.457A>T (p.Lys153Ter)
c.5611A>T (p.Lys1871Ter)
c.1579A>T (p.Lys527Ter)
c.5599A>T (p.Lys1867Ter)
n.336-126199A>T
c.268A>T (p.Lys90Ter)
c.5587A>T (p.Lys1863Ter)
c.5242A>T (p.Lys1748Ter)
c.1588A>T (p.Lys530Ter)
c.5482A>T (p.Lys1828Ter)
c.5473A>T (p.Lys1825Ter)
c.5488A>T (p.Lys1830Ter)
 dbSNP
Xg.32343262T>CCA412666356DMDc.457A>G (p.Lys153Glu)
c.5611A>G (p.Lys1871Glu)
c.1579A>G (p.Lys527Glu)
c.5599A>G (p.Lys1867Glu)
n.336-126199A>G
c.268A>G (p.Lys90Glu)
c.5587A>G (p.Lys1863Glu)
c.5242A>G (p.Lys1748Glu)
c.1588A>G (p.Lys530Glu)
c.5482A>G (p.Lys1828Glu)
c.5473A>G (p.Lys1825Glu)
c.5488A>G (p.Lys1830Glu)
 dbSNP gnomAD v2 gnomAD v4
Xg.32343262T>GCA412666353DMDc.457A>C (p.Lys153Gln)
c.5611A>C (p.Lys1871Gln)
c.1579A>C (p.Lys527Gln)
c.5599A>C (p.Lys1867Gln)
n.336-126199A>C
c.268A>C (p.Lys90Gln)
c.5587A>C (p.Lys1863Gln)
c.5242A>C (p.Lys1748Gln)
c.1588A>C (p.Lys530Gln)
c.5482A>C (p.Lys1828Gln)
c.5473A>C (p.Lys1825Gln)
c.5488A>C (p.Lys1830Gln)
Xg.32343262T=CA2422760834DMDc.457A= (p.Lys153=)
c.5611A= (p.Lys1871=)
c.1579A= (p.Lys527=)
c.5599A= (p.Lys1867=)
n.336-126199A=
c.268A= (p.Lys90=)
c.5587A= (p.Lys1863=)
c.5242A= (p.Lys1748=)
c.1588A= (p.Lys530=)
c.5482A= (p.Lys1828=)
c.5473A= (p.Lys1825=)
c.5488A= (p.Lys1830=)
Xg.32343263T>ACA412666359DMDc.456A>T (p.Lys152Asn)
c.5610A>T (p.Lys1870Asn)
c.1578A>T (p.Lys526Asn)
c.5598A>T (p.Lys1866Asn)
n.336-126200A>T
c.267A>T (p.Lys89Asn)
c.5586A>T (p.Lys1862Asn)
c.5241A>T (p.Lys1747Asn)
c.1587A>T (p.Lys529Asn)
c.5481A>T (p.Lys1827Asn)
c.5472A>T (p.Lys1824Asn)
c.5487A>T (p.Lys1829Asn)
Xg.32343263T>CCA515714165DMDc.456A>G (p.Lys152=)
c.5610A>G (p.Lys1870=)
c.1578A>G (p.Lys526=)
c.5598A>G (p.Lys1866=)
n.336-126200A>G
c.267A>G (p.Lys89=)
c.5586A>G (p.Lys1862=)
c.5241A>G (p.Lys1747=)
c.1587A>G (p.Lys529=)
c.5481A>G (p.Lys1827=)
c.5472A>G (p.Lys1824=)
c.5487A>G (p.Lys1829=)
Xg.32343263T>GCA412666361DMDc.456A>C (p.Lys152Asn)
c.5610A>C (p.Lys1870Asn)
c.1578A>C (p.Lys526Asn)
c.5598A>C (p.Lys1866Asn)
n.336-126200A>C
c.267A>C (p.Lys89Asn)
c.5586A>C (p.Lys1862Asn)
c.5241A>C (p.Lys1747Asn)
c.1587A>C (p.Lys529Asn)
c.5481A>C (p.Lys1827Asn)
c.5472A>C (p.Lys1824Asn)
c.5487A>C (p.Lys1829Asn)
Xg.32343264T>ACA412666362DMDc.455A>T (p.Lys152Ile)
c.5609A>T (p.Lys1870Ile)
c.1577A>T (p.Lys526Ile)
c.5597A>T (p.Lys1866Ile)
n.336-126201A>T
c.266A>T (p.Lys89Ile)
c.5585A>T (p.Lys1862Ile)
c.5240A>T (p.Lys1747Ile)
c.1586A>T (p.Lys529Ile)
c.5480A>T (p.Lys1827Ile)
c.5471A>T (p.Lys1824Ile)
c.5486A>T (p.Lys1829Ile)
Xg.32343264T>CCA412666364DMDc.455A>G (p.Lys152Arg)
c.5609A>G (p.Lys1870Arg)
c.1577A>G (p.Lys526Arg)
c.5597A>G (p.Lys1866Arg)
n.336-126201A>G
c.266A>G (p.Lys89Arg)
c.5585A>G (p.Lys1862Arg)
c.5240A>G (p.Lys1747Arg)
c.1586A>G (p.Lys529Arg)
c.5480A>G (p.Lys1827Arg)
c.5471A>G (p.Lys1824Arg)
c.5486A>G (p.Lys1829Arg)
Xg.32343264T>GCA412666368DMDc.455A>C (p.Lys152Thr)
c.5609A>C (p.Lys1870Thr)
c.1577A>C (p.Lys526Thr)
c.5597A>C (p.Lys1866Thr)
n.336-126201A>C
c.266A>C (p.Lys89Thr)
c.5585A>C (p.Lys1862Thr)
c.5240A>C (p.Lys1747Thr)
c.1586A>C (p.Lys529Thr)
c.5480A>C (p.Lys1827Thr)
c.5471A>C (p.Lys1824Thr)
c.5486A>C (p.Lys1829Thr)
Xg.32343265T>ACA412666371DMDc.454A>T (p.Lys152Ter)
c.5608A>T (p.Lys1870Ter)
c.1576A>T (p.Lys526Ter)
c.5596A>T (p.Lys1866Ter)
n.336-126202A>T
c.265A>T (p.Lys89Ter)
c.5584A>T (p.Lys1862Ter)
c.5239A>T (p.Lys1747Ter)
c.1585A>T (p.Lys529Ter)
c.5479A>T (p.Lys1827Ter)
c.5470A>T (p.Lys1824Ter)
c.5485A>T (p.Lys1829Ter)
 dbSNP
Xg.32343265T>CCA412666375DMDc.454A>G (p.Lys152Glu)
c.5608A>G (p.Lys1870Glu)
c.1576A>G (p.Lys526Glu)
c.5596A>G (p.Lys1866Glu)
n.336-126202A>G
c.265A>G (p.Lys89Glu)
c.5584A>G (p.Lys1862Glu)
c.5239A>G (p.Lys1747Glu)
c.1585A>G (p.Lys529Glu)
c.5479A>G (p.Lys1827Glu)
c.5470A>G (p.Lys1824Glu)
c.5485A>G (p.Lys1829Glu)
 ClinVar gnomAD v4
Xg.32343265T>GCA412666378DMDc.454A>C (p.Lys152Gln)
c.5608A>C (p.Lys1870Gln)
c.1576A>C (p.Lys526Gln)
c.5596A>C (p.Lys1866Gln)
n.336-126202A>C
c.265A>C (p.Lys89Gln)
c.5584A>C (p.Lys1862Gln)
c.5239A>C (p.Lys1747Gln)
c.1585A>C (p.Lys529Gln)
c.5479A>C (p.Lys1827Gln)
c.5470A>C (p.Lys1824Gln)
c.5485A>C (p.Lys1829Gln)
Xg.32343266T>ACA412666382DMDc.453A>T (p.Arg151Ser)
c.5607A>T (p.Arg1869Ser)
c.1575A>T (p.Arg525Ser)
c.5595A>T (p.Arg1865Ser)
n.336-126203A>T
c.264A>T (p.Arg88Ser)
c.5583A>T (p.Arg1861Ser)
c.5238A>T (p.Arg1746Ser)
c.1584A>T (p.Arg528Ser)
c.5478A>T (p.Arg1826Ser)
c.5469A>T (p.Arg1823Ser)
c.5484A>T (p.Arg1828Ser)
Xg.32343266T>CCA515714168DMDc.453A>G (p.Arg151=)
c.5607A>G (p.Arg1869=)
c.1575A>G (p.Arg525=)
c.5595A>G (p.Arg1865=)
n.336-126203A>G
c.264A>G (p.Arg88=)
c.5583A>G (p.Arg1861=)
c.5238A>G (p.Arg1746=)
c.1584A>G (p.Arg528=)
c.5478A>G (p.Arg1826=)
c.5469A>G (p.Arg1823=)
c.5484A>G (p.Arg1828=)
Xg.32343266T>GCA412666384DMDc.453A>C (p.Arg151Ser)
c.5607A>C (p.Arg1869Ser)
c.1575A>C (p.Arg525Ser)
c.5595A>C (p.Arg1865Ser)
n.336-126203A>C
c.264A>C (p.Arg88Ser)
c.5583A>C (p.Arg1861Ser)
c.5238A>C (p.Arg1746Ser)
c.1584A>C (p.Arg528Ser)
c.5478A>C (p.Arg1826Ser)
c.5469A>C (p.Arg1823Ser)
c.5484A>C (p.Arg1828Ser)
Xg.32343267delCA2695232747DMDc.452del (p.Arg151LysfsTer5)
c.5606del (p.Arg1869LysfsTer5)
c.1574del (p.Arg525LysfsTer5)
c.5594del (p.Arg1865LysfsTer5)
n.336-126204del
c.263del (p.Arg88LysfsTer5)
c.5582del (p.Arg1861LysfsTer5)
c.5237del (p.Arg1746LysfsTer5)
c.1583del (p.Arg528LysfsTer5)
c.5477del (p.Arg1826LysfsTer5)
c.5468del (p.Arg1823LysfsTer5)
c.5483del (p.Arg1828LysfsTer5)
Xg.32343267C>ACA412666394DMDc.452G>T (p.Arg151Ile)
c.5606G>T (p.Arg1869Ile)
c.1574G>T (p.Arg525Ile)
c.5594G>T (p.Arg1865Ile)
n.336-126204G>T
c.263G>T (p.Arg88Ile)
c.5582G>T (p.Arg1861Ile)
c.5237G>T (p.Arg1746Ile)
c.1583G>T (p.Arg528Ile)
c.5477G>T (p.Arg1826Ile)
c.5468G>T (p.Arg1823Ile)
c.5483G>T (p.Arg1828Ile)
Xg.32343267C=CA2422760835DMDc.452G= (p.Arg151=)
c.5606G= (p.Arg1869=)
c.1574G= (p.Arg525=)
c.5594G= (p.Arg1865=)
n.336-126204G=
c.263G= (p.Arg88=)
c.5582G= (p.Arg1861=)
c.5237G= (p.Arg1746=)
c.1583G= (p.Arg528=)
c.5477G= (p.Arg1826=)
c.5468G= (p.Arg1823=)
c.5483G= (p.Arg1828=)
Xg.32343267C>GCA412666391DMDc.452G>C (p.Arg151Thr)
c.5606G>C (p.Arg1869Thr)
c.1574G>C (p.Arg525Thr)
c.5594G>C (p.Arg1865Thr)
n.336-126204G>C
c.263G>C (p.Arg88Thr)
c.5582G>C (p.Arg1861Thr)
c.5237G>C (p.Arg1746Thr)
c.1583G>C (p.Arg528Thr)
c.5477G>C (p.Arg1826Thr)
c.5468G>C (p.Arg1823Thr)
c.5483G>C (p.Arg1828Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32343267C>TCA412666388DMDc.452G>A (p.Arg151Lys)
c.5606G>A (p.Arg1869Lys)
c.1574G>A (p.Arg525Lys)
c.5594G>A (p.Arg1865Lys)
n.336-126204G>A
c.263G>A (p.Arg88Lys)
c.5582G>A (p.Arg1861Lys)
c.5237G>A (p.Arg1746Lys)
c.1583G>A (p.Arg528Lys)
c.5477G>A (p.Arg1826Lys)
c.5468G>A (p.Arg1823Lys)
c.5483G>A (p.Arg1828Lys)
Xg.32343267_32343271delinsCTTCTCA2422760836DMDc.448_452delinsAGAAG (p.Arg150=)
c.5602_5606delinsAGAAG (p.Arg1868=)
c.1570_1574delinsAGAAG (p.Arg524=)
c.5590_5594delinsAGAAG (p.Arg1864=)
n.336-126208_336-126204delinsAGAAG
c.259_263delinsAGAAG (p.Arg87=)
c.5578_5582delinsAGAAG (p.Arg1860=)
c.5233_5237delinsAGAAG (p.Arg1745=)
c.1579_1583delinsAGAAG (p.Arg527=)
c.5473_5477delinsAGAAG (p.Arg1825=)
c.5464_5468delinsAGAAG (p.Arg1822=)
c.5479_5483delinsAGAAG (p.Arg1827=)
Xg.32343268T>ACA412666398DMDc.451A>T (p.Arg151Ter)
c.5605A>T (p.Arg1869Ter)
c.1573A>T (p.Arg525Ter)
c.5593A>T (p.Arg1865Ter)
n.336-126205A>T
c.262A>T (p.Arg88Ter)
c.5581A>T (p.Arg1861Ter)
c.5236A>T (p.Arg1746Ter)
c.1582A>T (p.Arg528Ter)
c.5476A>T (p.Arg1826Ter)
c.5467A>T (p.Arg1823Ter)
c.5482A>T (p.Arg1828Ter)
Xg.32343268T>CCA412666401DMDc.451A>G (p.Arg151Gly)
c.5605A>G (p.Arg1869Gly)
c.1573A>G (p.Arg525Gly)
c.5593A>G (p.Arg1865Gly)
n.336-126205A>G
c.262A>G (p.Arg88Gly)
c.5581A>G (p.Arg1861Gly)
c.5236A>G (p.Arg1746Gly)
c.1582A>G (p.Arg528Gly)
c.5476A>G (p.Arg1826Gly)
c.5467A>G (p.Arg1823Gly)
c.5482A>G (p.Arg1828Gly)
 gnomAD v4
Xg.32343268T>GCA515714169DMDc.451A>C (p.Arg151=)
c.5605A>C (p.Arg1869=)
c.1573A>C (p.Arg525=)
c.5593A>C (p.Arg1865=)
n.336-126205A>C
c.262A>C (p.Arg88=)
c.5581A>C (p.Arg1861=)
c.5236A>C (p.Arg1746=)
c.1582A>C (p.Arg528=)
c.5476A>C (p.Arg1826=)
c.5467A>C (p.Arg1823=)
c.5482A>C (p.Arg1828=)
 ClinVar dbSNP
Xg.32343270_32343273delCA347483DMDc.448_451del (p.Arg150GlufsTer5)
c.5602_5605del (p.Arg1868GlufsTer5)
c.1570_1573del (p.Arg524GlufsTer5)
c.5590_5593del (p.Arg1864GlufsTer5)
n.336-126208_336-126205del
c.259_262del (p.Arg87GlufsTer5)
c.5578_5581del (p.Arg1860GlufsTer5)
c.5233_5236del (p.Arg1745GlufsTer5)
c.1579_1582del (p.Arg527GlufsTer5)
c.5473_5476del (p.Arg1825GlufsTer5)
c.5464_5467del (p.Arg1822GlufsTer5)
c.5479_5482del (p.Arg1827GlufsTer5)
 ClinVar dbSNP
Xg.32343269T>ACA412666407DMDc.450A>T (p.Arg150Ser)
c.5604A>T (p.Arg1868Ser)
c.1572A>T (p.Arg524Ser)
c.5592A>T (p.Arg1864Ser)
n.336-126206A>T
c.261A>T (p.Arg87Ser)
c.5580A>T (p.Arg1860Ser)
c.5235A>T (p.Arg1745Ser)
c.1581A>T (p.Arg527Ser)
c.5475A>T (p.Arg1825Ser)
c.5466A>T (p.Arg1822Ser)
c.5481A>T (p.Arg1827Ser)
Xg.32343269T>CCA515714170DMDc.450A>G (p.Arg150=)
c.5604A>G (p.Arg1868=)
c.1572A>G (p.Arg524=)
c.5592A>G (p.Arg1864=)
n.336-126206A>G
c.261A>G (p.Arg87=)
c.5580A>G (p.Arg1860=)
c.5235A>G (p.Arg1745=)
c.1581A>G (p.Arg527=)
c.5475A>G (p.Arg1825=)
c.5466A>G (p.Arg1822=)
c.5481A>G (p.Arg1827=)
Xg.32343269T>GCA412666409DMDc.450A>C (p.Arg150Ser)
c.5604A>C (p.Arg1868Ser)
c.1572A>C (p.Arg524Ser)
c.5592A>C (p.Arg1864Ser)
n.336-126206A>C
c.261A>C (p.Arg87Ser)
c.5580A>C (p.Arg1860Ser)
c.5235A>C (p.Arg1745Ser)
c.1581A>C (p.Arg527Ser)
c.5475A>C (p.Arg1825Ser)
c.5466A>C (p.Arg1822Ser)
c.5481A>C (p.Arg1827Ser)
Xg.32343270C>ACA412666415DMDc.449G>T (p.Arg150Ile)
c.5603G>T (p.Arg1868Ile)
c.1571G>T (p.Arg524Ile)
c.5591G>T (p.Arg1864Ile)
n.336-126207G>T
c.260G>T (p.Arg87Ile)
c.5579G>T (p.Arg1860Ile)
c.5234G>T (p.Arg1745Ile)
c.1580G>T (p.Arg527Ile)
c.5474G>T (p.Arg1825Ile)
c.5465G>T (p.Arg1822Ile)
c.5480G>T (p.Arg1827Ile)
 dbSNP
Xg.32343270C=CA2422760837DMDc.449G= (p.Arg150=)
c.5603G= (p.Arg1868=)
c.1571G= (p.Arg524=)
c.5591G= (p.Arg1864=)
n.336-126207G=
c.260G= (p.Arg87=)
c.5579G= (p.Arg1860=)
c.5234G= (p.Arg1745=)
c.1580G= (p.Arg527=)
c.5474G= (p.Arg1825=)
c.5465G= (p.Arg1822=)
c.5480G= (p.Arg1827=)
Xg.32343270C>GCA412666418DMDc.449G>C (p.Arg150Thr)
c.5603G>C (p.Arg1868Thr)
c.1571G>C (p.Arg524Thr)
c.5591G>C (p.Arg1864Thr)
n.336-126207G>C
c.260G>C (p.Arg87Thr)
c.5579G>C (p.Arg1860Thr)
c.5234G>C (p.Arg1745Thr)
c.1580G>C (p.Arg527Thr)
c.5474G>C (p.Arg1825Thr)
c.5465G>C (p.Arg1822Thr)
c.5480G>C (p.Arg1827Thr)
Xg.32343270C>TCA412666422DMDc.449G>A (p.Arg150Lys)
c.5603G>A (p.Arg1868Lys)
c.1571G>A (p.Arg524Lys)
c.5591G>A (p.Arg1864Lys)
n.336-126207G>A
c.260G>A (p.Arg87Lys)
c.5579G>A (p.Arg1860Lys)
c.5234G>A (p.Arg1745Lys)
c.1580G>A (p.Arg527Lys)
c.5474G>A (p.Arg1825Lys)
c.5465G>A (p.Arg1822Lys)
c.5480G>A (p.Arg1827Lys)
Xg.32343271T>ACA412666426DMDc.448A>T (p.Arg150Ter)
c.5602A>T (p.Arg1868Ter)
c.1570A>T (p.Arg524Ter)
c.5590A>T (p.Arg1864Ter)
n.336-126208A>T
c.259A>T (p.Arg87Ter)
c.5578A>T (p.Arg1860Ter)
c.5233A>T (p.Arg1745Ter)
c.1579A>T (p.Arg527Ter)
c.5473A>T (p.Arg1825Ter)
c.5464A>T (p.Arg1822Ter)
c.5479A>T (p.Arg1827Ter)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
Xg.32343271T>CCA412666428DMDc.448A>G (p.Arg150Gly)
c.5602A>G (p.Arg1868Gly)
c.1570A>G (p.Arg524Gly)
c.5590A>G (p.Arg1864Gly)
n.336-126208A>G
c.259A>G (p.Arg87Gly)
c.5578A>G (p.Arg1860Gly)
c.5233A>G (p.Arg1745Gly)
c.1579A>G (p.Arg527Gly)
c.5473A>G (p.Arg1825Gly)
c.5464A>G (p.Arg1822Gly)
c.5479A>G (p.Arg1827Gly)
Xg.32343271T>GCA515714171DMDc.448A>C (p.Arg150=)
c.5602A>C (p.Arg1868=)
c.1570A>C (p.Arg524=)
c.5590A>C (p.Arg1864=)
n.336-126208A>C
c.259A>C (p.Arg87=)
c.5578A>C (p.Arg1860=)
c.5233A>C (p.Arg1745=)
c.1579A>C (p.Arg527=)
c.5473A>C (p.Arg1825=)
c.5464A>C (p.Arg1822=)
c.5479A>C (p.Arg1827=)
Xg.32343271T=CA2422760838DMDc.448A= (p.Arg150=)
c.5602A= (p.Arg1868=)
c.1570A= (p.Arg524=)
c.5590A= (p.Arg1864=)
n.336-126208A=
c.259A= (p.Arg87=)
c.5578A= (p.Arg1860=)
c.5233A= (p.Arg1745=)
c.1579A= (p.Arg527=)
c.5473A= (p.Arg1825=)
c.5464A= (p.Arg1822=)
c.5479A= (p.Arg1827=)
Xg.32343271_32343273delCA2739268180DMDc.446_448del (p.Gln149del)
c.5600_5602del (p.Gln1867del)
c.1568_1570del (p.Gln523del)
c.5588_5590del (p.Gln1863del)
n.336-126210_336-126208del
c.257_259del (p.Gln86del)
c.5576_5578del (p.Gln1859del)
c.5231_5233del (p.Gln1744del)
c.1577_1579del (p.Gln526del)
c.5471_5473del (p.Gln1824del)
c.5462_5464del (p.Gln1821del)
c.5477_5479del (p.Gln1826del)
 ClinVar
Xg.32343273dupCA2580100664DMDc.448dup (p.Arg150LysfsTer20)
c.5602dup (p.Arg1868LysfsTer20)
c.1570dup (p.Arg524LysfsTer20)
c.5590dup (p.Arg1864LysfsTer20)
n.336-126208dup
c.259dup (p.Arg87LysfsTer20)
c.5578dup (p.Arg1860LysfsTer20)
c.5233dup (p.Arg1745LysfsTer20)
c.1579dup (p.Arg527LysfsTer20)
c.5473dup (p.Arg1825LysfsTer20)
c.5464dup (p.Arg1822LysfsTer20)
c.5479dup (p.Arg1827LysfsTer20)
 ClinVar
Xg.32343272T>ACA412666431DMDc.447A>T (p.Gln149His)
c.5601A>T (p.Gln1867His)
c.1569A>T (p.Gln523His)
c.5589A>T (p.Gln1863His)
n.336-126209A>T
c.258A>T (p.Gln86His)
c.5577A>T (p.Gln1859His)
c.5232A>T (p.Gln1744His)
c.1578A>T (p.Gln526His)
c.5472A>T (p.Gln1824His)
c.5463A>T (p.Gln1821His)
c.5478A>T (p.Gln1826His)
Xg.32343272T>CCA515714172DMDc.447A>G (p.Gln149=)
c.5601A>G (p.Gln1867=)
c.1569A>G (p.Gln523=)
c.5589A>G (p.Gln1863=)
n.336-126209A>G
c.258A>G (p.Gln86=)
c.5577A>G (p.Gln1859=)
c.5232A>G (p.Gln1744=)
c.1578A>G (p.Gln526=)
c.5472A>G (p.Gln1824=)
c.5463A>G (p.Gln1821=)
c.5478A>G (p.Gln1826=)
Xg.32343272T>GCA16043825DMDc.447A>C (p.Gln149His)
c.5601A>C (p.Gln1867His)
c.1569A>C (p.Gln523His)
c.5589A>C (p.Gln1863His)
n.336-126209A>C
c.258A>C (p.Gln86His)
c.5577A>C (p.Gln1859His)
c.5232A>C (p.Gln1744His)
c.1578A>C (p.Gln526His)
c.5472A>C (p.Gln1824His)
c.5463A>C (p.Gln1821His)
c.5478A>C (p.Gln1826His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32343272T=CA2422760839DMDc.447A= (p.Gln149=)
c.5601A= (p.Gln1867=)
c.1569A= (p.Gln523=)
c.5589A= (p.Gln1863=)
n.336-126209A=
c.258A= (p.Gln86=)
c.5577A= (p.Gln1859=)
c.5232A= (p.Gln1744=)
c.1578A= (p.Gln526=)
c.5472A= (p.Gln1824=)
c.5463A= (p.Gln1821=)
c.5478A= (p.Gln1826=)
Xg.32343273T>ACA412666448DMDc.446A>T (p.Gln149Leu)
c.5600A>T (p.Gln1867Leu)
c.1568A>T (p.Gln523Leu)
c.5588A>T (p.Gln1863Leu)
n.336-126210A>T
c.257A>T (p.Gln86Leu)
c.5576A>T (p.Gln1859Leu)
c.5231A>T (p.Gln1744Leu)
c.1577A>T (p.Gln526Leu)
c.5471A>T (p.Gln1824Leu)
c.5462A>T (p.Gln1821Leu)
c.5477A>T (p.Gln1826Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32343273T>CCA412666451DMDc.446A>G (p.Gln149Arg)
c.5600A>G (p.Gln1867Arg)
c.1568A>G (p.Gln523Arg)
c.5588A>G (p.Gln1863Arg)
n.336-126210A>G
c.257A>G (p.Gln86Arg)
c.5576A>G (p.Gln1859Arg)
c.5231A>G (p.Gln1744Arg)
c.1577A>G (p.Gln526Arg)
c.5471A>G (p.Gln1824Arg)
c.5462A>G (p.Gln1821Arg)
c.5477A>G (p.Gln1826Arg)
Xg.32343273T>GCA412666446DMDc.446A>C (p.Gln149Pro)
c.5600A>C (p.Gln1867Pro)
c.1568A>C (p.Gln523Pro)
c.5588A>C (p.Gln1863Pro)
n.336-126210A>C
c.257A>C (p.Gln86Pro)
c.5576A>C (p.Gln1859Pro)
c.5231A>C (p.Gln1744Pro)
c.1577A>C (p.Gln526Pro)
c.5471A>C (p.Gln1824Pro)
c.5462A>C (p.Gln1821Pro)
c.5477A>C (p.Gln1826Pro)
 gnomAD v4
Xg.32343273T=CA2422760840DMDc.446A= (p.Gln149=)
c.5600A= (p.Gln1867=)
c.1568A= (p.Gln523=)
c.5588A= (p.Gln1863=)
n.336-126210A=
c.257A= (p.Gln86=)
c.5576A= (p.Gln1859=)
c.5231A= (p.Gln1744=)
c.1577A= (p.Gln526=)
c.5471A= (p.Gln1824=)
c.5462A= (p.Gln1821=)
c.5477A= (p.Gln1826=)
Xg.32343274G>ACA412666455DMDc.445C>T (p.Gln149Ter)
c.5599C>T (p.Gln1867Ter)
c.1567C>T (p.Gln523Ter)
c.5587C>T (p.Gln1863Ter)
n.336-126211C>T
c.256C>T (p.Gln86Ter)
c.5575C>T (p.Gln1859Ter)
c.5230C>T (p.Gln1744Ter)
c.1576C>T (p.Gln526Ter)
c.5470C>T (p.Gln1824Ter)
c.5461C>T (p.Gln1821Ter)
c.5476C>T (p.Gln1826Ter)
 dbSNP
Xg.32343274G>CCA10378631DMDc.445C>G (p.Gln149Glu)
c.5599C>G (p.Gln1867Glu)
c.1567C>G (p.Gln523Glu)
c.5587C>G (p.Gln1863Glu)
n.336-126211C>G
c.256C>G (p.Gln86Glu)
c.5575C>G (p.Gln1859Glu)
c.5230C>G (p.Gln1744Glu)
c.1576C>G (p.Gln526Glu)
c.5470C>G (p.Gln1824Glu)
c.5461C>G (p.Gln1821Glu)
c.5476C>G (p.Gln1826Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343274G=CA2422760841DMDc.445C= (p.Gln149=)
c.5599C= (p.Gln1867=)
c.1567C= (p.Gln523=)
c.5587C= (p.Gln1863=)
n.336-126211C=
c.256C= (p.Gln86=)
c.5575C= (p.Gln1859=)
c.5230C= (p.Gln1744=)
c.1576C= (p.Gln526=)
c.5470C= (p.Gln1824=)
c.5461C= (p.Gln1821=)
c.5476C= (p.Gln1826=)
Xg.32343274G>TCA412666459DMDc.445C>A (p.Gln149Lys)
c.5599C>A (p.Gln1867Lys)
c.1567C>A (p.Gln523Lys)
c.5587C>A (p.Gln1863Lys)
n.336-126211C>A
c.256C>A (p.Gln86Lys)
c.5575C>A (p.Gln1859Lys)
c.5230C>A (p.Gln1744Lys)
c.1576C>A (p.Gln526Lys)
c.5470C>A (p.Gln1824Lys)
c.5461C>A (p.Gln1821Lys)
c.5476C>A (p.Gln1826Lys)
Xg.32343275A>CCA515714173DMDc.444T>G (p.Ser148=)
c.5598T>G (p.Ser1866=)
c.1566T>G (p.Ser522=)
c.5586T>G (p.Ser1862=)
n.336-126212T>G
c.255T>G (p.Ser85=)
c.5574T>G (p.Ser1858=)
c.5229T>G (p.Ser1743=)
c.1575T>G (p.Ser525=)
c.5469T>G (p.Ser1823=)
c.5460T>G (p.Ser1820=)
c.5475T>G (p.Ser1825=)
 gnomAD v4
Xg.32343275A>GCA515714175DMDc.444T>C (p.Ser148=)
c.5598T>C (p.Ser1866=)
c.1566T>C (p.Ser522=)
c.5586T>C (p.Ser1862=)
n.336-126212T>C
c.255T>C (p.Ser85=)
c.5574T>C (p.Ser1858=)
c.5229T>C (p.Ser1743=)
c.1575T>C (p.Ser525=)
c.5469T>C (p.Ser1823=)
c.5460T>C (p.Ser1820=)
c.5475T>C (p.Ser1825=)
Xg.32343275A>TCA515714174DMDc.444T>A (p.Ser148=)
c.5598T>A (p.Ser1866=)
c.1566T>A (p.Ser522=)
c.5586T>A (p.Ser1862=)
n.336-126212T>A
c.255T>A (p.Ser85=)
c.5574T>A (p.Ser1858=)
c.5229T>A (p.Ser1743=)
c.1575T>A (p.Ser525=)
c.5469T>A (p.Ser1823=)
c.5460T>A (p.Ser1820=)
c.5475T>A (p.Ser1825=)
Xg.32343276G>ACA412666462DMDc.443C>T (p.Ser148Phe)
c.5597C>T (p.Ser1866Phe)
c.1565C>T (p.Ser522Phe)
c.5585C>T (p.Ser1862Phe)
n.336-126213C>T
c.254C>T (p.Ser85Phe)
c.5573C>T (p.Ser1858Phe)
c.5228C>T (p.Ser1743Phe)
c.1574C>T (p.Ser525Phe)
c.5468C>T (p.Ser1823Phe)
c.5459C>T (p.Ser1820Phe)
c.5474C>T (p.Ser1825Phe)
Xg.32343276G>CCA412666464DMDc.443C>G (p.Ser148Cys)
c.5597C>G (p.Ser1866Cys)
c.1565C>G (p.Ser522Cys)
c.5585C>G (p.Ser1862Cys)
n.336-126213C>G
c.254C>G (p.Ser85Cys)
c.5573C>G (p.Ser1858Cys)
c.5228C>G (p.Ser1743Cys)
c.1574C>G (p.Ser525Cys)
c.5468C>G (p.Ser1823Cys)
c.5459C>G (p.Ser1820Cys)
c.5474C>G (p.Ser1825Cys)
Xg.32343276G>TCA412666468DMDc.443C>A (p.Ser148Tyr)
c.5597C>A (p.Ser1866Tyr)
c.1565C>A (p.Ser522Tyr)
c.5585C>A (p.Ser1862Tyr)
n.336-126213C>A
c.254C>A (p.Ser85Tyr)
c.5573C>A (p.Ser1858Tyr)
c.5228C>A (p.Ser1743Tyr)
c.1574C>A (p.Ser525Tyr)
c.5468C>A (p.Ser1823Tyr)
c.5459C>A (p.Ser1820Tyr)
c.5474C>A (p.Ser1825Tyr)
Xg.32343277A>CCA412666472DMDc.442T>G (p.Ser148Ala)
c.5596T>G (p.Ser1866Ala)
c.1564T>G (p.Ser522Ala)
c.5584T>G (p.Ser1862Ala)
n.336-126214T>G
c.253T>G (p.Ser85Ala)
c.5572T>G (p.Ser1858Ala)
c.5227T>G (p.Ser1743Ala)
c.1573T>G (p.Ser525Ala)
c.5467T>G (p.Ser1823Ala)
c.5458T>G (p.Ser1820Ala)
c.5473T>G (p.Ser1825Ala)
Xg.32343277A>GCA412666475DMDc.442T>C (p.Ser148Pro)
c.5596T>C (p.Ser1866Pro)
c.1564T>C (p.Ser522Pro)
c.5584T>C (p.Ser1862Pro)
n.336-126214T>C
c.253T>C (p.Ser85Pro)
c.5572T>C (p.Ser1858Pro)
c.5227T>C (p.Ser1743Pro)
c.1573T>C (p.Ser525Pro)
c.5467T>C (p.Ser1823Pro)
c.5458T>C (p.Ser1820Pro)
c.5473T>C (p.Ser1825Pro)
Xg.32343277A>TCA412666477DMDc.442T>A (p.Ser148Thr)
c.5596T>A (p.Ser1866Thr)
c.1564T>A (p.Ser522Thr)
c.5584T>A (p.Ser1862Thr)
n.336-126214T>A
c.253T>A (p.Ser85Thr)
c.5572T>A (p.Ser1858Thr)
c.5227T>A (p.Ser1743Thr)
c.1573T>A (p.Ser525Thr)
c.5467T>A (p.Ser1823Thr)
c.5458T>A (p.Ser1820Thr)
c.5473T>A (p.Ser1825Thr)
 gnomAD v3 gnomAD v4
Xg.32343277_32343278delinsACCA2422760842DMDc.441_442delinsGT (p.Arg147=)
c.5595_5596delinsGT (p.Arg1865=)
c.1563_1564delinsGT (p.Arg521=)
c.5583_5584delinsGT (p.Arg1861=)
n.336-126215_336-126214delinsGT
c.252_253delinsGT (p.Arg84=)
c.5571_5572delinsGT (p.Arg1857=)
c.5226_5227delinsGT (p.Arg1742=)
c.1572_1573delinsGT (p.Arg524=)
c.5466_5467delinsGT (p.Arg1822=)
c.5457_5458delinsGT (p.Arg1819=)
c.5472_5473delinsGT (p.Arg1824=)
Xg.32343278C>ACA412666481DMDc.441G>T (p.Arg147Ser)
c.5595G>T (p.Arg1865Ser)
c.1563G>T (p.Arg521Ser)
c.5583G>T (p.Arg1861Ser)
n.336-126215G>T
c.252G>T (p.Arg84Ser)
c.5571G>T (p.Arg1857Ser)
c.5226G>T (p.Arg1742Ser)
c.1572G>T (p.Arg524Ser)
c.5466G>T (p.Arg1822Ser)
c.5457G>T (p.Arg1819Ser)
c.5472G>T (p.Arg1824Ser)
Xg.32343278C>GCA412666483DMDc.441G>C (p.Arg147Ser)
c.5595G>C (p.Arg1865Ser)
c.1563G>C (p.Arg521Ser)
c.5583G>C (p.Arg1861Ser)
n.336-126215G>C
c.252G>C (p.Arg84Ser)
c.5571G>C (p.Arg1857Ser)
c.5226G>C (p.Arg1742Ser)
c.1572G>C (p.Arg524Ser)
c.5466G>C (p.Arg1822Ser)
c.5457G>C (p.Arg1819Ser)
c.5472G>C (p.Arg1824Ser)
Xg.32343278C>TCA515714176DMDc.441G>A (p.Arg147=)
c.5595G>A (p.Arg1865=)
c.1563G>A (p.Arg521=)
c.5583G>A (p.Arg1861=)
n.336-126215G>A
c.252G>A (p.Arg84=)
c.5571G>A (p.Arg1857=)
c.5226G>A (p.Arg1742=)
c.1572G>A (p.Arg524=)
c.5466G>A (p.Arg1822=)
c.5457G>A (p.Arg1819=)
c.5472G>A (p.Arg1824=)
 gnomAD v4
Xg.32343279delCA658799688DMDc.441del (p.Arg147SerfsTer9)
c.5595del (p.Arg1865SerfsTer9)
c.1563del (p.Arg521SerfsTer9)
c.5583del (p.Arg1861SerfsTer9)
n.336-126215del
c.252del (p.Arg84SerfsTer9)
c.5571del (p.Arg1857SerfsTer9)
c.5226del (p.Arg1742SerfsTer9)
c.1572del (p.Arg524SerfsTer9)
c.5466del (p.Arg1822SerfsTer9)
c.5457del (p.Arg1819SerfsTer9)
c.5472del (p.Arg1824SerfsTer9)
 ClinVar dbSNP
Xg.32343279C>ACA412666486DMDc.440G>T (p.Arg147Met)
c.5594G>T (p.Arg1865Met)
c.1562G>T (p.Arg521Met)
c.5582G>T (p.Arg1861Met)
n.336-126216G>T
c.251G>T (p.Arg84Met)
c.5570G>T (p.Arg1857Met)
c.5225G>T (p.Arg1742Met)
c.1571G>T (p.Arg524Met)
c.5465G>T (p.Arg1822Met)
c.5456G>T (p.Arg1819Met)
c.5471G>T (p.Arg1824Met)
Xg.32343279C>GCA412666489DMDc.440G>C (p.Arg147Thr)
c.5594G>C (p.Arg1865Thr)
c.1562G>C (p.Arg521Thr)
c.5582G>C (p.Arg1861Thr)
n.336-126216G>C
c.251G>C (p.Arg84Thr)
c.5570G>C (p.Arg1857Thr)
c.5225G>C (p.Arg1742Thr)
c.1571G>C (p.Arg524Thr)
c.5465G>C (p.Arg1822Thr)
c.5456G>C (p.Arg1819Thr)
c.5471G>C (p.Arg1824Thr)
Xg.32343279C>TCA412666491DMDc.440G>A (p.Arg147Lys)
c.5594G>A (p.Arg1865Lys)
c.1562G>A (p.Arg521Lys)
c.5582G>A (p.Arg1861Lys)
n.336-126216G>A
c.251G>A (p.Arg84Lys)
c.5570G>A (p.Arg1857Lys)
c.5225G>A (p.Arg1742Lys)
c.1571G>A (p.Arg524Lys)
c.5465G>A (p.Arg1822Lys)
c.5456G>A (p.Arg1819Lys)
c.5471G>A (p.Arg1824Lys)
 ClinVar
Xg.32343280T>ACA412666495DMDc.439A>T (p.Arg147Trp)
c.5593A>T (p.Arg1865Trp)
c.1561A>T (p.Arg521Trp)
c.5581A>T (p.Arg1861Trp)
n.336-126217A>T
c.250A>T (p.Arg84Trp)
c.5569A>T (p.Arg1857Trp)
c.5224A>T (p.Arg1742Trp)
c.1570A>T (p.Arg524Trp)
c.5464A>T (p.Arg1822Trp)
c.5455A>T (p.Arg1819Trp)
c.5470A>T (p.Arg1824Trp)
Xg.32343280T>CCA412666499DMDc.439A>G (p.Arg147Gly)
c.5593A>G (p.Arg1865Gly)
c.1561A>G (p.Arg521Gly)
c.5581A>G (p.Arg1861Gly)
n.336-126217A>G
c.250A>G (p.Arg84Gly)
c.5569A>G (p.Arg1857Gly)
c.5224A>G (p.Arg1742Gly)
c.1570A>G (p.Arg524Gly)
c.5464A>G (p.Arg1822Gly)
c.5455A>G (p.Arg1819Gly)
c.5470A>G (p.Arg1824Gly)
 ClinVar dbSNP
Xg.32343280T>GCA515714177DMDc.439A>C (p.Arg147=)
c.5593A>C (p.Arg1865=)
c.1561A>C (p.Arg521=)
c.5581A>C (p.Arg1861=)
n.336-126217A>C
c.250A>C (p.Arg84=)
c.5569A>C (p.Arg1857=)
c.5224A>C (p.Arg1742=)
c.1570A>C (p.Arg524=)
c.5464A>C (p.Arg1822=)
c.5455A>C (p.Arg1819=)
c.5470A>C (p.Arg1824=)
Xg.32343280T=CA2422760843DMDc.439A= (p.Arg147=)
c.5593A= (p.Arg1865=)
c.1561A= (p.Arg521=)
c.5581A= (p.Arg1861=)
n.336-126217A=
c.250A= (p.Arg84=)
c.5569A= (p.Arg1857=)
c.5224A= (p.Arg1742=)
c.1570A= (p.Arg524=)
c.5464A= (p.Arg1822=)
c.5455A= (p.Arg1819=)
c.5470A= (p.Arg1824=)
Xg.32343281C>ACA412666502DMDc.438G>T (p.Leu146Phe)
c.5592G>T (p.Leu1864Phe)
c.1560G>T (p.Leu520Phe)
c.5580G>T (p.Leu1860Phe)
n.336-126218G>T
c.249G>T (p.Leu83Phe)
c.5568G>T (p.Leu1856Phe)
c.5223G>T (p.Leu1741Phe)
c.1569G>T (p.Leu523Phe)
c.5463G>T (p.Leu1821Phe)
c.5454G>T (p.Leu1818Phe)
c.5469G>T (p.Leu1823Phe)
 ClinVar dbSNP
Xg.32343281C>GCA412666505DMDc.438G>C (p.Leu146Phe)
c.5592G>C (p.Leu1864Phe)
c.1560G>C (p.Leu520Phe)
c.5580G>C (p.Leu1860Phe)
n.336-126218G>C
c.249G>C (p.Leu83Phe)
c.5568G>C (p.Leu1856Phe)
c.5223G>C (p.Leu1741Phe)
c.1569G>C (p.Leu523Phe)
c.5463G>C (p.Leu1821Phe)
c.5454G>C (p.Leu1818Phe)
c.5469G>C (p.Leu1823Phe)
Xg.32343281C>TCA515714179DMDc.438G>A (p.Leu146=)
c.5592G>A (p.Leu1864=)
c.1560G>A (p.Leu520=)
c.5580G>A (p.Leu1860=)
n.336-126218G>A
c.249G>A (p.Leu83=)
c.5568G>A (p.Leu1856=)
c.5223G>A (p.Leu1741=)
c.1569G>A (p.Leu523=)
c.5463G>A (p.Leu1821=)
c.5454G>A (p.Leu1818=)
c.5469G>A (p.Leu1823=)
Xg.32343282A>CCA412666508DMDc.437T>G (p.Leu146Trp)
c.5591T>G (p.Leu1864Trp)
c.1559T>G (p.Leu520Trp)
c.5579T>G (p.Leu1860Trp)
n.336-126219T>G
c.248T>G (p.Leu83Trp)
c.5567T>G (p.Leu1856Trp)
c.5222T>G (p.Leu1741Trp)
c.1568T>G (p.Leu523Trp)
c.5462T>G (p.Leu1821Trp)
c.5453T>G (p.Leu1818Trp)
c.5468T>G (p.Leu1823Trp)
Xg.32343282A>GCA412666511DMDc.437T>C (p.Leu146Ser)
c.5591T>C (p.Leu1864Ser)
c.1559T>C (p.Leu520Ser)
c.5579T>C (p.Leu1860Ser)
n.336-126219T>C
c.248T>C (p.Leu83Ser)
c.5567T>C (p.Leu1856Ser)
c.5222T>C (p.Leu1741Ser)
c.1568T>C (p.Leu523Ser)
c.5462T>C (p.Leu1821Ser)
c.5453T>C (p.Leu1818Ser)
c.5468T>C (p.Leu1823Ser)
Xg.32343282A>TCA412666513DMDc.437T>A (p.Leu146Ter)
c.5591T>A (p.Leu1864Ter)
c.1559T>A (p.Leu520Ter)
c.5579T>A (p.Leu1860Ter)
n.336-126219T>A
c.248T>A (p.Leu83Ter)
c.5567T>A (p.Leu1856Ter)
c.5222T>A (p.Leu1741Ter)
c.1568T>A (p.Leu523Ter)
c.5462T>A (p.Leu1821Ter)
c.5453T>A (p.Leu1818Ter)
c.5468T>A (p.Leu1823Ter)
Xg.32343284dupCA2695232748DMDc.437dup (p.Leu146PhefsTer24)
c.5591dup (p.Leu1864PhefsTer24)
c.1559dup (p.Leu520PhefsTer24)
c.5579dup (p.Leu1860PhefsTer24)
n.336-126219dup
c.248dup (p.Leu83PhefsTer24)
c.5567dup (p.Leu1856PhefsTer24)
c.5222dup (p.Leu1741PhefsTer24)
c.1568dup (p.Leu523PhefsTer24)
c.5462dup (p.Leu1821PhefsTer24)
c.5453dup (p.Leu1818PhefsTer24)
c.5468dup (p.Leu1823PhefsTer24)
Xg.32343283A>CCA412666517DMDc.436T>G (p.Leu146Val)
c.5590T>G (p.Leu1864Val)
c.1558T>G (p.Leu520Val)
c.5578T>G (p.Leu1860Val)
n.336-126220T>G
c.247T>G (p.Leu83Val)
c.5566T>G (p.Leu1856Val)
c.5221T>G (p.Leu1741Val)
c.1567T>G (p.Leu523Val)
c.5461T>G (p.Leu1821Val)
c.5452T>G (p.Leu1818Val)
c.5467T>G (p.Leu1823Val)
Xg.32343283A>GCA515714180DMDc.436T>C (p.Leu146=)
c.5590T>C (p.Leu1864=)
c.1558T>C (p.Leu520=)
c.5578T>C (p.Leu1860=)
n.336-126220T>C
c.247T>C (p.Leu83=)
c.5566T>C (p.Leu1856=)
c.5221T>C (p.Leu1741=)
c.1567T>C (p.Leu523=)
c.5461T>C (p.Leu1821=)
c.5452T>C (p.Leu1818=)
c.5467T>C (p.Leu1823=)
Xg.32343283A>TCA412666519DMDc.436T>A (p.Leu146Met)
c.5590T>A (p.Leu1864Met)
c.1558T>A (p.Leu520Met)
c.5578T>A (p.Leu1860Met)
n.336-126220T>A
c.247T>A (p.Leu83Met)
c.5566T>A (p.Leu1856Met)
c.5221T>A (p.Leu1741Met)
c.1567T>A (p.Leu523Met)
c.5461T>A (p.Leu1821Met)
c.5452T>A (p.Leu1818Met)
c.5467T>A (p.Leu1823Met)
Xg.32343284A>CCA412666525DMDc.435T>G (p.Asp145Glu)
c.5589T>G (p.Asp1863Glu)
c.1557T>G (p.Asp519Glu)
c.5577T>G (p.Asp1859Glu)
n.336-126221T>G
c.246T>G (p.Asp82Glu)
c.5565T>G (p.Asp1855Glu)
c.5220T>G (p.Asp1740Glu)
c.1566T>G (p.Asp522Glu)
c.5460T>G (p.Asp1820Glu)
c.5451T>G (p.Asp1817Glu)
c.5466T>G (p.Asp1822Glu)
Xg.32343284A>GCA515714181DMDc.435T>C (p.Asp145=)
c.5589T>C (p.Asp1863=)
c.1557T>C (p.Asp519=)
c.5577T>C (p.Asp1859=)
n.336-126221T>C
c.246T>C (p.Asp82=)
c.5565T>C (p.Asp1855=)
c.5220T>C (p.Asp1740=)
c.1566T>C (p.Asp522=)
c.5460T>C (p.Asp1820=)
c.5451T>C (p.Asp1817=)
c.5466T>C (p.Asp1822=)
Xg.32343284A>TCA412666528DMDc.435T>A (p.Asp145Glu)
c.5589T>A (p.Asp1863Glu)
c.1557T>A (p.Asp519Glu)
c.5577T>A (p.Asp1859Glu)
n.336-126221T>A
c.246T>A (p.Asp82Glu)
c.5565T>A (p.Asp1855Glu)
c.5220T>A (p.Asp1740Glu)
c.1566T>A (p.Asp522Glu)
c.5460T>A (p.Asp1820Glu)
c.5451T>A (p.Asp1817Glu)
c.5466T>A (p.Asp1822Glu)
Xg.32343285T>ACA412666529DMDc.434A>T (p.Asp145Val)
c.5588A>T (p.Asp1863Val)
c.1556A>T (p.Asp519Val)
c.5576A>T (p.Asp1859Val)
n.336-126222A>T
c.245A>T (p.Asp82Val)
c.5564A>T (p.Asp1855Val)
c.5219A>T (p.Asp1740Val)
c.1565A>T (p.Asp522Val)
c.5459A>T (p.Asp1820Val)
c.5450A>T (p.Asp1817Val)
c.5465A>T (p.Asp1822Val)
Xg.32343285T>CCA412666532DMDc.434A>G (p.Asp145Gly)
c.5588A>G (p.Asp1863Gly)
c.1556A>G (p.Asp519Gly)
c.5576A>G (p.Asp1859Gly)
n.336-126222A>G
c.245A>G (p.Asp82Gly)
c.5564A>G (p.Asp1855Gly)
c.5219A>G (p.Asp1740Gly)
c.1565A>G (p.Asp522Gly)
c.5459A>G (p.Asp1820Gly)
c.5450A>G (p.Asp1817Gly)
c.5465A>G (p.Asp1822Gly)
 gnomAD v4
Xg.32343285T>GCA412666534DMDc.434A>C (p.Asp145Ala)
c.5588A>C (p.Asp1863Ala)
c.1556A>C (p.Asp519Ala)
c.5576A>C (p.Asp1859Ala)
n.336-126222A>C
c.245A>C (p.Asp82Ala)
c.5564A>C (p.Asp1855Ala)
c.5219A>C (p.Asp1740Ala)
c.1565A>C (p.Asp522Ala)
c.5459A>C (p.Asp1820Ala)
c.5450A>C (p.Asp1817Ala)
c.5465A>C (p.Asp1822Ala)
Xg.32343286C>ACA412666556DMDc.433G>T (p.Asp145Tyr)
c.5587G>T (p.Asp1863Tyr)
c.1555G>T (p.Asp519Tyr)
c.5575G>T (p.Asp1859Tyr)
n.336-126223G>T
c.244G>T (p.Asp82Tyr)
c.5563G>T (p.Asp1855Tyr)
c.5218G>T (p.Asp1740Tyr)
c.1564G>T (p.Asp522Tyr)
c.5458G>T (p.Asp1820Tyr)
c.5449G>T (p.Asp1817Tyr)
c.5464G>T (p.Asp1822Tyr)
 gnomAD v4
Xg.32343286C>GCA412666554DMDc.433G>C (p.Asp145His)
c.5587G>C (p.Asp1863His)
c.1555G>C (p.Asp519His)
c.5575G>C (p.Asp1859His)
n.336-126223G>C
c.244G>C (p.Asp82His)
c.5563G>C (p.Asp1855His)
c.5218G>C (p.Asp1740His)
c.1564G>C (p.Asp522His)
c.5458G>C (p.Asp1820His)
c.5449G>C (p.Asp1817His)
c.5464G>C (p.Asp1822His)
Xg.32343286C>TCA412666547DMDc.433G>A (p.Asp145Asn)
c.5587G>A (p.Asp1863Asn)
c.1555G>A (p.Asp519Asn)
c.5575G>A (p.Asp1859Asn)
n.336-126223G>A
c.244G>A (p.Asp82Asn)
c.5563G>A (p.Asp1855Asn)
c.5218G>A (p.Asp1740Asn)
c.1564G>A (p.Asp522Asn)
c.5458G>A (p.Asp1820Asn)
c.5449G>A (p.Asp1817Asn)
c.5464G>A (p.Asp1822Asn)
Xg.32343287C>ACA412666558DMDc.433-1G>T (n.433-1G>T)
c.5587-1G>T (n.5587-1G>T)
c.1555-1G>T (n.1555-1G>T)
c.5575-1G>T (n.5575-1G>T)
n.336-126224G>T
c.244-1G>T (n.244-1G>T)
c.5563-1G>T (n.5563-1G>T)
c.5218-1G>T (n.5218-1G>T)
c.1564-1G>T (n.1564-1G>T)
c.5458-1G>T (n.5458-1G>T)
c.5449-1G>T (n.5449-1G>T)
c.5464-1G>T (n.5464-1G>T)
 COSMIC COSMIC COSMIC COSMIC
Xg.32343287C>GCA412666562DMDc.433-1G>C (n.433-1G>C)
c.5587-1G>C (n.5587-1G>C)
c.1555-1G>C (n.1555-1G>C)
c.5575-1G>C (n.5575-1G>C)
n.336-126224G>C
c.244-1G>C (n.244-1G>C)
c.5563-1G>C (n.5563-1G>C)
c.5218-1G>C (n.5218-1G>C)
c.1564-1G>C (n.1564-1G>C)
c.5458-1G>C (n.5458-1G>C)
c.5449-1G>C (n.5449-1G>C)
c.5464-1G>C (n.5464-1G>C)
 COSMIC COSMIC COSMIC COSMIC
Xg.32343287C>TCA412666561DMDc.433-1G>A (n.433-1G>A)
c.5587-1G>A (n.5587-1G>A)
c.1555-1G>A (n.1555-1G>A)
c.5575-1G>A (n.5575-1G>A)
n.336-126224G>A
c.244-1G>A (n.244-1G>A)
c.5563-1G>A (n.5563-1G>A)
c.5218-1G>A (n.5218-1G>A)
c.1564-1G>A (n.1564-1G>A)
c.5458-1G>A (n.5458-1G>A)
c.5449-1G>A (n.5449-1G>A)
c.5464-1G>A (n.5464-1G>A)
Xg.32343288T>ACA412666563DMDc.433-2A>T (n.433-2A>T)
c.5587-2A>T (n.5587-2A>T)
c.1555-2A>T (n.1555-2A>T)
c.5575-2A>T (n.5575-2A>T)
n.336-126225A>T
c.244-2A>T (n.244-2A>T)
c.5563-2A>T (n.5563-2A>T)
c.5218-2A>T (n.5218-2A>T)
c.1564-2A>T (n.1564-2A>T)
c.5458-2A>T (n.5458-2A>T)
c.5449-2A>T (n.5449-2A>T)
c.5464-2A>T (n.5464-2A>T)
Xg.32343288T>CCA412666566DMDc.433-2A>G (n.433-2A>G)
c.5587-2A>G (n.5587-2A>G)
c.1555-2A>G (n.1555-2A>G)
c.5575-2A>G (n.5575-2A>G)
n.336-126225A>G
c.244-2A>G (n.244-2A>G)
c.5563-2A>G (n.5563-2A>G)
c.5218-2A>G (n.5218-2A>G)
c.1564-2A>G (n.1564-2A>G)
c.5458-2A>G (n.5458-2A>G)
c.5449-2A>G (n.5449-2A>G)
c.5464-2A>G (n.5464-2A>G)
 gnomAD v4
Xg.32343288T>GCA412666564DMDc.433-2A>C (n.433-2A>C)
c.5587-2A>C (n.5587-2A>C)
c.1555-2A>C (n.1555-2A>C)
c.5575-2A>C (n.5575-2A>C)
n.336-126225A>C
c.244-2A>C (n.244-2A>C)
c.5563-2A>C (n.5563-2A>C)
c.5218-2A>C (n.5218-2A>C)
c.1564-2A>C (n.1564-2A>C)
c.5458-2A>C (n.5458-2A>C)
c.5449-2A>C (n.5449-2A>C)
c.5464-2A>C (n.5464-2A>C)
 gnomAD v4
Xg.32343289_32343316delCA2592984068DMDc.433-29_433-2del (n.433-29_433-2del)
c.5587-29_5587-2del (n.5587-29_5587-2del)
c.1555-29_1555-2del (n.1555-29_1555-2del)
c.5575-29_5575-2del (n.5575-29_5575-2del)
n.336-126252_336-126225del
c.244-29_244-2del (n.244-29_244-2del)
c.5563-29_5563-2del (n.5563-29_5563-2del)
c.5218-29_5218-2del (n.5218-29_5218-2del)
c.1564-29_1564-2del (n.1564-29_1564-2del)
c.5458-29_5458-2del (n.5458-29_5458-2del)
c.5449-29_5449-2del (n.5449-29_5449-2del)
c.5464-29_5464-2del (n.5464-29_5464-2del)
 dbSNP gnomAD v3 gnomAD v4
Xg.32343289G>ACA2579579440DMDc.433-3C>T (n.433-3C>T)
c.5587-3C>T (n.5587-3C>T)
c.1555-3C>T (n.1555-3C>T)
c.5575-3C>T (n.5575-3C>T)
n.336-126226C>T
c.244-3C>T (n.244-3C>T)
c.5563-3C>T (n.5563-3C>T)
c.5218-3C>T (n.5218-3C>T)
c.1564-3C>T (n.1564-3C>T)
c.5458-3C>T (n.5458-3C>T)
c.5449-3C>T (n.5449-3C>T)
c.5464-3C>T (n.5464-3C>T)
Xg.32343291T>ACA874698606DMDc.433-5A>T (n.433-5A>T)
c.5587-5A>T (n.5587-5A>T)
c.1555-5A>T (n.1555-5A>T)
c.5575-5A>T (n.5575-5A>T)
n.336-126228A>T
c.244-5A>T (n.244-5A>T)
c.5563-5A>T (n.5563-5A>T)
c.5218-5A>T (n.5218-5A>T)
c.1564-5A>T (n.1564-5A>T)
c.5458-5A>T (n.5458-5A>T)
c.5449-5A>T (n.5449-5A>T)
c.5464-5A>T (n.5464-5A>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.32343291T>GCA2697552958DMDc.433-5A>C (n.433-5A>C)
c.5587-5A>C (n.5587-5A>C)
c.1555-5A>C (n.1555-5A>C)
c.5575-5A>C (n.5575-5A>C)
n.336-126228A>C
c.244-5A>C (n.244-5A>C)
c.5563-5A>C (n.5563-5A>C)
c.5218-5A>C (n.5218-5A>C)
c.1564-5A>C (n.1564-5A>C)
c.5458-5A>C (n.5458-5A>C)
c.5449-5A>C (n.5449-5A>C)
c.5464-5A>C (n.5464-5A>C)
 ClinVar
Xg.32343291T=CA2422760844DMDc.433-5A= (n.433-5A=)
c.5587-5A= (n.5587-5A=)
c.1555-5A= (n.1555-5A=)
c.5575-5A= (n.5575-5A=)
n.336-126228A=
c.244-5A= (n.244-5A=)
c.5563-5A= (n.5563-5A=)
c.5218-5A= (n.5218-5A=)
c.1564-5A= (n.1564-5A=)
c.5458-5A= (n.5458-5A=)
c.5449-5A= (n.5449-5A=)
c.5464-5A= (n.5464-5A=)
Xg.32343292C>ACA2573158790DMDc.433-6G>T (n.433-6G>T)
c.5587-6G>T (n.5587-6G>T)
c.1555-6G>T (n.1555-6G>T)
c.5575-6G>T (n.5575-6G>T)
n.336-126229G>T
c.244-6G>T (n.244-6G>T)
c.5563-6G>T (n.5563-6G>T)
c.5218-6G>T (n.5218-6G>T)
c.1564-6G>T (n.1564-6G>T)
c.5458-6G>T (n.5458-6G>T)
c.5449-6G>T (n.5449-6G>T)
c.5464-6G>T (n.5464-6G>T)
 ClinVar dbSNP gnomAD v4
Xg.32343293A=CA2422760845DMDc.433-7T= (n.433-7T=)
c.5587-7T= (n.5587-7T=)
c.1555-7T= (n.1555-7T=)
c.5575-7T= (n.5575-7T=)
n.336-126230T=
c.244-7T= (n.244-7T=)
c.5563-7T= (n.5563-7T=)
c.5218-7T= (n.5218-7T=)
c.1564-7T= (n.1564-7T=)
c.5458-7T= (n.5458-7T=)
c.5449-7T= (n.5449-7T=)
c.5464-7T= (n.5464-7T=)
Xg.32343293A>TCA2580100669DMDc.433-7T>A (n.433-7T>A)
c.5587-7T>A (n.5587-7T>A)
c.1555-7T>A (n.1555-7T>A)
c.5575-7T>A (n.5575-7T>A)
n.336-126230T>A
c.244-7T>A (n.244-7T>A)
c.5563-7T>A (n.5563-7T>A)
c.5218-7T>A (n.5218-7T>A)
c.1564-7T>A (n.1564-7T>A)
c.5458-7T>A (n.5458-7T>A)
c.5449-7T>A (n.5449-7T>A)
c.5464-7T>A (n.5464-7T>A)
 ClinVar
Xg.32343294T>CCA2499226641DMDc.433-8A>G (n.433-8A>G)
c.5587-8A>G (n.5587-8A>G)
c.1555-8A>G (n.1555-8A>G)
c.5575-8A>G (n.5575-8A>G)
n.336-126231A>G
c.244-8A>G (n.244-8A>G)
c.5563-8A>G (n.5563-8A>G)
c.5218-8A>G (n.5218-8A>G)
c.1564-8A>G (n.1564-8A>G)
c.5458-8A>G (n.5458-8A>G)
c.5449-8A>G (n.5449-8A>G)
c.5464-8A>G (n.5464-8A>G)
 ClinVar dbSNP gnomAD v4
Xg.32343294T>GCA640962871DMDc.433-8A>C (n.433-8A>C)
c.5587-8A>C (n.5587-8A>C)
c.1555-8A>C (n.1555-8A>C)
c.5575-8A>C (n.5575-8A>C)
n.336-126231A>C
c.244-8A>C (n.244-8A>C)
c.5563-8A>C (n.5563-8A>C)
c.5218-8A>C (n.5218-8A>C)
c.1564-8A>C (n.1564-8A>C)
c.5458-8A>C (n.5458-8A>C)
c.5449-8A>C (n.5449-8A>C)
c.5464-8A>C (n.5464-8A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343294T=CA2422760846DMDc.433-8A= (n.433-8A=)
c.5587-8A= (n.5587-8A=)
c.1555-8A= (n.1555-8A=)
c.5575-8A= (n.5575-8A=)
n.336-126231A=
c.244-8A= (n.244-8A=)
c.5563-8A= (n.5563-8A=)
c.5218-8A= (n.5218-8A=)
c.1564-8A= (n.1564-8A=)
c.5458-8A= (n.5458-8A=)
c.5449-8A= (n.5449-8A=)
c.5464-8A= (n.5464-8A=)
Xg.32343294dupCA640962870DMDc.433-8dup (n.433-8dup)
c.5587-8dup (n.5587-8dup)
c.1555-8dup (n.1555-8dup)
c.5575-8dup (n.5575-8dup)
n.336-126231dup
c.244-8dup (n.244-8dup)
c.5563-8dup (n.5563-8dup)
c.5218-8dup (n.5218-8dup)
c.1564-8dup (n.1564-8dup)
c.5458-8dup (n.5458-8dup)
c.5449-8dup (n.5449-8dup)
c.5464-8dup (n.5464-8dup)
 dbSNP gnomAD v2 gnomAD v4
Xg.32343295G>ACA2422760848DMDc.433-9C>T (n.433-9C>T)
c.5587-9C>T (n.5587-9C>T)
c.1555-9C>T (n.1555-9C>T)
c.5575-9C>T (n.5575-9C>T)
n.336-126232C>T
c.244-9C>T (n.244-9C>T)
c.5563-9C>T (n.5563-9C>T)
c.5218-9C>T (n.5218-9C>T)
c.1564-9C>T (n.1564-9C>T)
c.5458-9C>T (n.5458-9C>T)
c.5449-9C>T (n.5449-9C>T)
c.5464-9C>T (n.5464-9C>T)
 ClinVar dbSNP gnomAD v4
Xg.32343295G=CA2422760847DMDc.433-9C= (n.433-9C=)
c.5587-9C= (n.5587-9C=)
c.1555-9C= (n.1555-9C=)
c.5575-9C= (n.5575-9C=)
n.336-126232C=
c.244-9C= (n.244-9C=)
c.5563-9C= (n.5563-9C=)
c.5218-9C= (n.5218-9C=)
c.1564-9C= (n.1564-9C=)
c.5458-9C= (n.5458-9C=)
c.5449-9C= (n.5449-9C=)
c.5464-9C= (n.5464-9C=)
Xg.32343295G>TCA2514391321DMDc.433-9C>A (n.433-9C>A)
c.5587-9C>A (n.5587-9C>A)
c.1555-9C>A (n.1555-9C>A)
c.5575-9C>A (n.5575-9C>A)
n.336-126232C>A
c.244-9C>A (n.244-9C>A)
c.5563-9C>A (n.5563-9C>A)
c.5218-9C>A (n.5218-9C>A)
c.1564-9C>A (n.1564-9C>A)
c.5458-9C>A (n.5458-9C>A)
c.5449-9C>A (n.5449-9C>A)
c.5464-9C>A (n.5464-9C>A)
 gnomAD v4
Xg.32343296G>ACA2422760850DMDc.433-10C>T (n.433-10C>T)
c.5587-10C>T (n.5587-10C>T)
c.1555-10C>T (n.1555-10C>T)
c.5575-10C>T (n.5575-10C>T)
n.336-126233C>T
c.244-10C>T (n.244-10C>T)
c.5563-10C>T (n.5563-10C>T)
c.5218-10C>T (n.5218-10C>T)
c.1564-10C>T (n.1564-10C>T)
c.5458-10C>T (n.5458-10C>T)
c.5449-10C>T (n.5449-10C>T)
c.5464-10C>T (n.5464-10C>T)
 ClinVar dbSNP gnomAD v4
Xg.32343296G=CA2422760849DMDc.433-10C= (n.433-10C=)
c.5587-10C= (n.5587-10C=)
c.1555-10C= (n.1555-10C=)
c.5575-10C= (n.5575-10C=)
n.336-126233C=
c.244-10C= (n.244-10C=)
c.5563-10C= (n.5563-10C=)
c.5218-10C= (n.5218-10C=)
c.1564-10C= (n.1564-10C=)
c.5458-10C= (n.5458-10C=)
c.5449-10C= (n.5449-10C=)
c.5464-10C= (n.5464-10C=)
Xg.32343296G>TCA10604880DMDc.433-10C>A (n.433-10C>A)
c.5587-10C>A (n.5587-10C>A)
c.1555-10C>A (n.1555-10C>A)
c.5575-10C>A (n.5575-10C>A)
n.336-126233C>A
c.244-10C>A (n.244-10C>A)
c.5563-10C>A (n.5563-10C>A)
c.5218-10C>A (n.5218-10C>A)
c.1564-10C>A (n.1564-10C>A)
c.5458-10C>A (n.5458-10C>A)
c.5449-10C>A (n.5449-10C>A)
c.5464-10C>A (n.5464-10C>A)
 ClinVar dbSNP gnomAD v4
Xg.32343298G>ACA2693393769DMDc.433-12C>T (n.433-12C>T)
c.5587-12C>T (n.5587-12C>T)
c.1555-12C>T (n.1555-12C>T)
c.5575-12C>T (n.5575-12C>T)
n.336-126235C>T
c.244-12C>T (n.244-12C>T)
c.5563-12C>T (n.5563-12C>T)
c.5218-12C>T (n.5218-12C>T)
c.1564-12C>T (n.1564-12C>T)
c.5458-12C>T (n.5458-12C>T)
c.5449-12C>T (n.5449-12C>T)
c.5464-12C>T (n.5464-12C>T)
 ClinVar gnomAD v4
Xg.32343298G>TCA2693393770DMDc.433-12C>A (n.433-12C>A)
c.5587-12C>A (n.5587-12C>A)
c.1555-12C>A (n.1555-12C>A)
c.5575-12C>A (n.5575-12C>A)
n.336-126235C>A
c.244-12C>A (n.244-12C>A)
c.5563-12C>A (n.5563-12C>A)
c.5218-12C>A (n.5218-12C>A)
c.1564-12C>A (n.1564-12C>A)
c.5458-12C>A (n.5458-12C>A)
c.5449-12C>A (n.5449-12C>A)
c.5464-12C>A (n.5464-12C>A)
 gnomAD v4
Xg.32343299C>ACA2422760852DMDc.433-13G>T (n.433-13G>T)
c.5587-13G>T (n.5587-13G>T)
c.1555-13G>T (n.1555-13G>T)
c.5575-13G>T (n.5575-13G>T)
n.336-126236G>T
c.244-13G>T (n.244-13G>T)
c.5563-13G>T (n.5563-13G>T)
c.5218-13G>T (n.5218-13G>T)
c.1564-13G>T (n.1564-13G>T)
c.5458-13G>T (n.5458-13G>T)
c.5449-13G>T (n.5449-13G>T)
c.5464-13G>T (n.5464-13G>T)
 ClinVar dbSNP gnomAD v4
Xg.32343299C=CA2422760851DMDc.433-13G= (n.433-13G=)
c.5587-13G= (n.5587-13G=)
c.1555-13G= (n.1555-13G=)
c.5575-13G= (n.5575-13G=)
n.336-126236G=
c.244-13G= (n.244-13G=)
c.5563-13G= (n.5563-13G=)
c.5218-13G= (n.5218-13G=)
c.1564-13G= (n.1564-13G=)
c.5458-13G= (n.5458-13G=)
c.5449-13G= (n.5449-13G=)
c.5464-13G= (n.5464-13G=)
Xg.32343299C>TCA10378632DMDc.433-13G>A (n.433-13G>A)
c.5587-13G>A (n.5587-13G>A)
c.1555-13G>A (n.1555-13G>A)
c.5575-13G>A (n.5575-13G>A)
n.336-126236G>A
c.244-13G>A (n.244-13G>A)
c.5563-13G>A (n.5563-13G>A)
c.5218-13G>A (n.5218-13G>A)
c.1564-13G>A (n.1564-13G>A)
c.5458-13G>A (n.5458-13G>A)
c.5449-13G>A (n.5449-13G>A)
c.5464-13G>A (n.5464-13G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343301G>ACA1132127325DMDc.433-15C>T (n.433-15C>T)
c.5587-15C>T (n.5587-15C>T)
c.1555-15C>T (n.1555-15C>T)
c.5575-15C>T (n.5575-15C>T)
n.336-126238C>T
c.244-15C>T (n.244-15C>T)
c.5563-15C>T (n.5563-15C>T)
c.5218-15C>T (n.5218-15C>T)
c.1564-15C>T (n.1564-15C>T)
c.5458-15C>T (n.5458-15C>T)
c.5449-15C>T (n.5449-15C>T)
c.5464-15C>T (n.5464-15C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32343301G=CA2422760853DMDc.433-15C= (n.433-15C=)
c.5587-15C= (n.5587-15C=)
c.1555-15C= (n.1555-15C=)
c.5575-15C= (n.5575-15C=)
n.336-126238C=
c.244-15C= (n.244-15C=)
c.5563-15C= (n.5563-15C=)
c.5218-15C= (n.5218-15C=)
c.1564-15C= (n.1564-15C=)
c.5458-15C= (n.5458-15C=)
c.5449-15C= (n.5449-15C=)
c.5464-15C= (n.5464-15C=)
Xg.32343302A>TCA2580100674DMDc.433-16T>A (n.433-16T>A)
c.5587-16T>A (n.5587-16T>A)
c.1555-16T>A (n.1555-16T>A)
c.5575-16T>A (n.5575-16T>A)
n.336-126239T>A
c.244-16T>A (n.244-16T>A)
c.5563-16T>A (n.5563-16T>A)
c.5218-16T>A (n.5218-16T>A)
c.1564-16T>A (n.1564-16T>A)
c.5458-16T>A (n.5458-16T>A)
c.5449-16T>A (n.5449-16T>A)
c.5464-16T>A (n.5464-16T>A)
 ClinVar
Xg.32343303C>TCA2561214457DMDc.433-17G>A (n.433-17G>A)
c.5587-17G>A (n.5587-17G>A)
c.1555-17G>A (n.1555-17G>A)
c.5575-17G>A (n.5575-17G>A)
n.336-126240G>A
c.244-17G>A (n.244-17G>A)
c.5563-17G>A (n.5563-17G>A)
c.5218-17G>A (n.5218-17G>A)
c.1564-17G>A (n.1564-17G>A)
c.5458-17G>A (n.5458-17G>A)
c.5449-17G>A (n.5449-17G>A)
c.5464-17G>A (n.5464-17G>A)
Xg.32343303_32343306delinsCATTCA2422760854DMDc.433-20_433-17delinsAATG (n.433-20_433-17delinsAATG)
c.5587-20_5587-17delinsAATG (n.5587-20_5587-17delinsAATG)
c.1555-20_1555-17delinsAATG (n.1555-20_1555-17delinsAATG)
c.5575-20_5575-17delinsAATG (n.5575-20_5575-17delinsAATG)
n.336-126243_336-126240delinsAATG
c.244-20_244-17delinsAATG (n.244-20_244-17delinsAATG)
c.5563-20_5563-17delinsAATG (n.5563-20_5563-17delinsAATG)
c.5218-20_5218-17delinsAATG (n.5218-20_5218-17delinsAATG)
c.1564-20_1564-17delinsAATG (n.1564-20_1564-17delinsAATG)
c.5458-20_5458-17delinsAATG (n.5458-20_5458-17delinsAATG)
c.5449-20_5449-17delinsAATG (n.5449-20_5449-17delinsAATG)
c.5464-20_5464-17delinsAATG (n.5464-20_5464-17delinsAATG)
Xg.32343308_32343310delCA874698614DMDc.433-20_433-18del (n.433-20_433-18del)
c.5587-20_5587-18del (n.5587-20_5587-18del)
c.1555-20_1555-18del (n.1555-20_1555-18del)
c.5575-20_5575-18del (n.5575-20_5575-18del)
n.336-126243_336-126241del
c.244-20_244-18del (n.244-20_244-18del)
c.5563-20_5563-18del (n.5563-20_5563-18del)
c.5218-20_5218-18del (n.5218-20_5218-18del)
c.1564-20_1564-18del (n.1564-20_1564-18del)
c.5458-20_5458-18del (n.5458-20_5458-18del)
c.5449-20_5449-18del (n.5449-20_5449-18del)
c.5464-20_5464-18del (n.5464-20_5464-18del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32343305T>CCA10378633DMDc.433-19A>G (n.433-19A>G)
c.5587-19A>G (n.5587-19A>G)
c.1555-19A>G (n.1555-19A>G)
c.5575-19A>G (n.5575-19A>G)
n.336-126242A>G
c.244-19A>G (n.244-19A>G)
c.5563-19A>G (n.5563-19A>G)
c.5218-19A>G (n.5218-19A>G)
c.1564-19A>G (n.1564-19A>G)
c.5458-19A>G (n.5458-19A>G)
c.5449-19A>G (n.5449-19A>G)
c.5464-19A>G (n.5464-19A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32343305T=CA2422760855DMDc.433-19A= (n.433-19A=)
c.5587-19A= (n.5587-19A=)
c.1555-19A= (n.1555-19A=)
c.5575-19A= (n.5575-19A=)
n.336-126242A=
c.244-19A= (n.244-19A=)
c.5563-19A= (n.5563-19A=)
c.5218-19A= (n.5218-19A=)
c.1564-19A= (n.1564-19A=)
c.5458-19A= (n.5458-19A=)
c.5449-19A= (n.5449-19A=)
c.5464-19A= (n.5464-19A=)
Xg.32343306T>ACA327982301DMDc.433-20A>T (n.433-20A>T)
c.5587-20A>T (n.5587-20A>T)
c.1555-20A>T (n.1555-20A>T)
c.5575-20A>T (n.5575-20A>T)
n.336-126243A>T
c.244-20A>T (n.244-20A>T)
c.5563-20A>T (n.5563-20A>T)
c.5218-20A>T (n.5218-20A>T)
c.1564-20A>T (n.1564-20A>T)
c.5458-20A>T (n.5458-20A>T)
c.5449-20A>T (n.5449-20A>T)
c.5464-20A>T (n.5464-20A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343306T=CA2422760856DMDc.433-20A= (n.433-20A=)
c.5587-20A= (n.5587-20A=)
c.1555-20A= (n.1555-20A=)
c.5575-20A= (n.5575-20A=)
n.336-126243A=
c.244-20A= (n.244-20A=)
c.5563-20A= (n.5563-20A=)
c.5218-20A= (n.5218-20A=)
c.1564-20A= (n.1564-20A=)
c.5458-20A= (n.5458-20A=)
c.5449-20A= (n.5449-20A=)
c.5464-20A= (n.5464-20A=)
Xg.32343307A>GCA2693393771DMDc.433-21T>C (n.433-21T>C)
c.5587-21T>C (n.5587-21T>C)
c.1555-21T>C (n.1555-21T>C)
c.5575-21T>C (n.5575-21T>C)
n.336-126244T>C
c.244-21T>C (n.244-21T>C)
c.5563-21T>C (n.5563-21T>C)
c.5218-21T>C (n.5218-21T>C)
c.1564-21T>C (n.1564-21T>C)
c.5458-21T>C (n.5458-21T>C)
c.5449-21T>C (n.5449-21T>C)
c.5464-21T>C (n.5464-21T>C)
 gnomAD v4
Xg.32343310A=CA2422760857DMDc.433-24T= (n.433-24T=)
c.5587-24T= (n.5587-24T=)
c.1555-24T= (n.1555-24T=)
c.5575-24T= (n.5575-24T=)
n.336-126247T=
c.244-24T= (n.244-24T=)
c.5563-24T= (n.5563-24T=)
c.5218-24T= (n.5218-24T=)
c.1564-24T= (n.1564-24T=)
c.5458-24T= (n.5458-24T=)
c.5449-24T= (n.5449-24T=)
c.5464-24T= (n.5464-24T=)
Xg.32343310A>CCA10378634DMDc.433-24T>G (n.433-24T>G)
c.5587-24T>G (n.5587-24T>G)
c.1555-24T>G (n.1555-24T>G)
c.5575-24T>G (n.5575-24T>G)
n.336-126247T>G
c.244-24T>G (n.244-24T>G)
c.5563-24T>G (n.5563-24T>G)
c.5218-24T>G (n.5218-24T>G)
c.1564-24T>G (n.1564-24T>G)
c.5458-24T>G (n.5458-24T>G)
c.5449-24T>G (n.5449-24T>G)
c.5464-24T>G (n.5464-24T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32343310A>GCA2693393772DMDc.433-24T>C (n.433-24T>C)
c.5587-24T>C (n.5587-24T>C)
c.1555-24T>C (n.1555-24T>C)
c.5575-24T>C (n.5575-24T>C)
n.336-126247T>C
c.244-24T>C (n.244-24T>C)
c.5563-24T>C (n.5563-24T>C)
c.5218-24T>C (n.5218-24T>C)
c.1564-24T>C (n.1564-24T>C)
c.5458-24T>C (n.5458-24T>C)
c.5449-24T>C (n.5449-24T>C)
c.5464-24T>C (n.5464-24T>C)
 gnomAD v4
Xg.32343312A>CCA2524497028DMDc.433-26T>G (n.433-26T>G)
c.5587-26T>G (n.5587-26T>G)
c.1555-26T>G (n.1555-26T>G)
c.5575-26T>G (n.5575-26T>G)
n.336-126249T>G
c.244-26T>G (n.244-26T>G)
c.5563-26T>G (n.5563-26T>G)
c.5218-26T>G (n.5218-26T>G)
c.1564-26T>G (n.1564-26T>G)
c.5458-26T>G (n.5458-26T>G)
c.5449-26T>G (n.5449-26T>G)
c.5464-26T>G (n.5464-26T>G)
Xg.32343315delCA2693393773DMDc.433-29del (n.433-29del)
c.5587-29del (n.5587-29del)
c.1555-29del (n.1555-29del)
c.5575-29del (n.5575-29del)
n.336-126252del
c.244-29del (n.244-29del)
c.5563-29del (n.5563-29del)
c.5218-29del (n.5218-29del)
c.1564-29del (n.1564-29del)
c.5458-29del (n.5458-29del)
c.5449-29del (n.5449-29del)
c.5464-29del (n.5464-29del)
 gnomAD v4
Xg.32343315A=CA2422760858DMDc.433-29T= (n.433-29T=)
c.5587-29T= (n.5587-29T=)
c.1555-29T= (n.1555-29T=)
c.5575-29T= (n.5575-29T=)
n.336-126252T=
c.244-29T= (n.244-29T=)
c.5563-29T= (n.5563-29T=)
c.5218-29T= (n.5218-29T=)
c.1564-29T= (n.1564-29T=)
c.5458-29T= (n.5458-29T=)
c.5449-29T= (n.5449-29T=)
c.5464-29T= (n.5464-29T=)
Xg.32343315A>TCA2422760859DMDc.433-29T>A (n.433-29T>A)
c.5587-29T>A (n.5587-29T>A)
c.1555-29T>A (n.1555-29T>A)
c.5575-29T>A (n.5575-29T>A)
n.336-126252T>A
c.244-29T>A (n.244-29T>A)
c.5563-29T>A (n.5563-29T>A)
c.5218-29T>A (n.5218-29T>A)
c.1564-29T>A (n.1564-29T>A)
c.5458-29T>A (n.5458-29T>A)
c.5449-29T>A (n.5449-29T>A)
c.5464-29T>A (n.5464-29T>A)
 dbSNP
Xg.32343316T>CCA657806974DMDc.433-30A>G (n.433-30A>G)
c.5587-30A>G (n.5587-30A>G)
c.1555-30A>G (n.1555-30A>G)
c.5575-30A>G (n.5575-30A>G)
n.336-126253A>G
c.244-30A>G (n.244-30A>G)
c.5563-30A>G (n.5563-30A>G)
c.5218-30A>G (n.5218-30A>G)
c.1564-30A>G (n.1564-30A>G)
c.5458-30A>G (n.5458-30A>G)
c.5449-30A>G (n.5449-30A>G)
c.5464-30A>G (n.5464-30A>G)
 gnomAD v4 COSMIC
Xg.32343317C>ACA2579579442DMDc.433-31G>T (n.433-31G>T)
c.5587-31G>T (n.5587-31G>T)
c.1555-31G>T (n.1555-31G>T)
c.5575-31G>T (n.5575-31G>T)
n.336-126254G>T
c.244-31G>T (n.244-31G>T)
c.5563-31G>T (n.5563-31G>T)
c.5218-31G>T (n.5218-31G>T)
c.1564-31G>T (n.1564-31G>T)
c.5458-31G>T (n.5458-31G>T)
c.5449-31G>T (n.5449-31G>T)
c.5464-31G>T (n.5464-31G>T)
 gnomAD v4
Xg.32343317C>TCA2693393774DMDc.433-31G>A (n.433-31G>A)
c.5587-31G>A (n.5587-31G>A)
c.1555-31G>A (n.1555-31G>A)
c.5575-31G>A (n.5575-31G>A)
n.336-126254G>A
c.244-31G>A (n.244-31G>A)
c.5563-31G>A (n.5563-31G>A)
c.5218-31G>A (n.5218-31G>A)
c.1564-31G>A (n.1564-31G>A)
c.5458-31G>A (n.5458-31G>A)
c.5449-31G>A (n.5449-31G>A)
c.5464-31G>A (n.5464-31G>A)
 gnomAD v4
Xg.32343317_32343318delCA2579579441DMDc.433-32_433-31del (n.433-32_433-31del)
c.5587-32_5587-31del (n.5587-32_5587-31del)
c.1555-32_1555-31del (n.1555-32_1555-31del)
c.5575-32_5575-31del (n.5575-32_5575-31del)
n.336-126255_336-126254del
c.244-32_244-31del (n.244-32_244-31del)
c.5563-32_5563-31del (n.5563-32_5563-31del)
c.5218-32_5218-31del (n.5218-32_5218-31del)
c.1564-32_1564-31del (n.1564-32_1564-31del)
c.5458-32_5458-31del (n.5458-32_5458-31del)
c.5449-32_5449-31del (n.5449-32_5449-31del)
c.5464-32_5464-31del (n.5464-32_5464-31del)
Xg.32343318A=CA2422760860DMDc.433-32T= (n.433-32T=)
c.5587-32T= (n.5587-32T=)
c.1555-32T= (n.1555-32T=)
c.5575-32T= (n.5575-32T=)
n.336-126255T=
c.244-32T= (n.244-32T=)
c.5563-32T= (n.5563-32T=)
c.5218-32T= (n.5218-32T=)
c.1564-32T= (n.1564-32T=)
c.5458-32T= (n.5458-32T=)
c.5449-32T= (n.5449-32T=)
c.5464-32T= (n.5464-32T=)
Xg.32343318A>GCA2693393775DMDc.433-32T>C (n.433-32T>C)
c.5587-32T>C (n.5587-32T>C)
c.1555-32T>C (n.1555-32T>C)
c.5575-32T>C (n.5575-32T>C)
n.336-126255T>C
c.244-32T>C (n.244-32T>C)
c.5563-32T>C (n.5563-32T>C)
c.5218-32T>C (n.5218-32T>C)
c.1564-32T>C (n.1564-32T>C)
c.5458-32T>C (n.5458-32T>C)
c.5449-32T>C (n.5449-32T>C)
c.5464-32T>C (n.5464-32T>C)
 dbSNP gnomAD v4
Xg.32343319A=CA2422760861DMDc.433-33T= (n.433-33T=)
c.5587-33T= (n.5587-33T=)
c.1555-33T= (n.1555-33T=)
c.5575-33T= (n.5575-33T=)
n.336-126256T=
c.244-33T= (n.244-33T=)
c.5563-33T= (n.5563-33T=)
c.5218-33T= (n.5218-33T=)
c.1564-33T= (n.1564-33T=)
c.5458-33T= (n.5458-33T=)
c.5449-33T= (n.5449-33T=)
c.5464-33T= (n.5464-33T=)
Xg.32343319A>GCA1132127328DMDc.433-33T>C (n.433-33T>C)
c.5587-33T>C (n.5587-33T>C)
c.1555-33T>C (n.1555-33T>C)
c.5575-33T>C (n.5575-33T>C)
n.336-126256T>C
c.244-33T>C (n.244-33T>C)
c.5563-33T>C (n.5563-33T>C)
c.5218-33T>C (n.5218-33T>C)
c.1564-33T>C (n.1564-33T>C)
c.5458-33T>C (n.5458-33T>C)
c.5449-33T>C (n.5449-33T>C)
c.5464-33T>C (n.5464-33T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.32343325_32343326dupCA10378635DMDc.433-34_433-33dup (n.433-34_433-33dup)
c.5587-34_5587-33dup (n.5587-34_5587-33dup)
c.1555-34_1555-33dup (n.1555-34_1555-33dup)
c.5575-34_5575-33dup (n.5575-34_5575-33dup)
n.336-126257_336-126256dup
c.244-34_244-33dup (n.244-34_244-33dup)
c.5563-34_5563-33dup (n.5563-34_5563-33dup)
c.5218-34_5218-33dup (n.5218-34_5218-33dup)
c.1564-34_1564-33dup (n.1564-34_1564-33dup)
c.5458-34_5458-33dup (n.5458-34_5458-33dup)
c.5449-34_5449-33dup (n.5449-34_5449-33dup)
c.5464-34_5464-33dup (n.5464-34_5464-33dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343325_32343326delCA2562303785DMDc.433-34_433-33del (n.433-34_433-33del)
c.5587-34_5587-33del (n.5587-34_5587-33del)
c.1555-34_1555-33del (n.1555-34_1555-33del)
c.5575-34_5575-33del (n.5575-34_5575-33del)
n.336-126257_336-126256del
c.244-34_244-33del (n.244-34_244-33del)
c.5563-34_5563-33del (n.5563-34_5563-33del)
c.5218-34_5218-33del (n.5218-34_5218-33del)
c.1564-34_1564-33del (n.1564-34_1564-33del)
c.5458-34_5458-33del (n.5458-34_5458-33del)
c.5449-34_5449-33del (n.5449-34_5449-33del)
c.5464-34_5464-33del (n.5464-34_5464-33del)
Xg.32343321A=CA2422760862DMDc.433-35T= (n.433-35T=)
c.5587-35T= (n.5587-35T=)
c.1555-35T= (n.1555-35T=)
c.5575-35T= (n.5575-35T=)
n.336-126258T=
c.244-35T= (n.244-35T=)
c.5563-35T= (n.5563-35T=)
c.5218-35T= (n.5218-35T=)
c.1564-35T= (n.1564-35T=)
c.5458-35T= (n.5458-35T=)
c.5449-35T= (n.5449-35T=)
c.5464-35T= (n.5464-35T=)
Xg.32343321A>GCA640962875DMDc.433-35T>C (n.433-35T>C)
c.5587-35T>C (n.5587-35T>C)
c.1555-35T>C (n.1555-35T>C)
c.5575-35T>C (n.5575-35T>C)
n.336-126258T>C
c.244-35T>C (n.244-35T>C)
c.5563-35T>C (n.5563-35T>C)
c.5218-35T>C (n.5218-35T>C)
c.1564-35T>C (n.1564-35T>C)
c.5458-35T>C (n.5458-35T>C)
c.5449-35T>C (n.5449-35T>C)
c.5464-35T>C (n.5464-35T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.32343322T>CCA640962877DMDc.433-36A>G (n.433-36A>G)
c.5587-36A>G (n.5587-36A>G)
c.1555-36A>G (n.1555-36A>G)
c.5575-36A>G (n.5575-36A>G)
n.336-126259A>G
c.244-36A>G (n.244-36A>G)
c.5563-36A>G (n.5563-36A>G)
c.5218-36A>G (n.5218-36A>G)
c.1564-36A>G (n.1564-36A>G)
c.5458-36A>G (n.5458-36A>G)
c.5449-36A>G (n.5449-36A>G)
c.5464-36A>G (n.5464-36A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.32343322T=CA2422760863DMDc.433-36A= (n.433-36A=)
c.5587-36A= (n.5587-36A=)
c.1555-36A= (n.1555-36A=)
c.5575-36A= (n.5575-36A=)
n.336-126259A=
c.244-36A= (n.244-36A=)
c.5563-36A= (n.5563-36A=)
c.5218-36A= (n.5218-36A=)
c.1564-36A= (n.1564-36A=)
c.5458-36A= (n.5458-36A=)
c.5449-36A= (n.5449-36A=)
c.5464-36A= (n.5464-36A=)
Xg.32343323A>GCA657806980DMDc.433-37T>C (n.433-37T>C)
c.5587-37T>C (n.5587-37T>C)
c.1555-37T>C (n.1555-37T>C)
c.5575-37T>C (n.5575-37T>C)
n.336-126260T>C
c.244-37T>C (n.244-37T>C)
c.5563-37T>C (n.5563-37T>C)
c.5218-37T>C (n.5218-37T>C)
c.1564-37T>C (n.1564-37T>C)
c.5458-37T>C (n.5458-37T>C)
c.5449-37T>C (n.5449-37T>C)
c.5464-37T>C (n.5464-37T>C)
 COSMIC
Xg.32343324T>ACA2579579443DMDc.433-38A>T (n.433-38A>T)
c.5587-38A>T (n.5587-38A>T)
c.1555-38A>T (n.1555-38A>T)
c.5575-38A>T (n.5575-38A>T)
n.336-126261A>T
c.244-38A>T (n.244-38A>T)
c.5563-38A>T (n.5563-38A>T)
c.5218-38A>T (n.5218-38A>T)
c.1564-38A>T (n.1564-38A>T)
c.5458-38A>T (n.5458-38A>T)
c.5449-38A>T (n.5449-38A>T)
c.5464-38A>T (n.5464-38A>T)
Xg.32343325A>TCA2693393776DMDc.433-39T>A (n.433-39T>A)
c.5587-39T>A (n.5587-39T>A)
c.1555-39T>A (n.1555-39T>A)
c.5575-39T>A (n.5575-39T>A)
n.336-126262T>A
c.244-39T>A (n.244-39T>A)
c.5563-39T>A (n.5563-39T>A)
c.5218-39T>A (n.5218-39T>A)
c.1564-39T>A (n.1564-39T>A)
c.5458-39T>A (n.5458-39T>A)
c.5449-39T>A (n.5449-39T>A)
c.5464-39T>A (n.5464-39T>A)
 gnomAD v4
Xg.32343326T>ACA640962878DMDc.433-40A>T (n.433-40A>T)
c.5587-40A>T (n.5587-40A>T)
c.1555-40A>T (n.1555-40A>T)
c.5575-40A>T (n.5575-40A>T)
n.336-126263A>T
c.244-40A>T (n.244-40A>T)
c.5563-40A>T (n.5563-40A>T)
c.5218-40A>T (n.5218-40A>T)
c.1564-40A>T (n.1564-40A>T)
c.5458-40A>T (n.5458-40A>T)
c.5449-40A>T (n.5449-40A>T)
c.5464-40A>T (n.5464-40A>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.32343326T>CCA2693393777DMDc.433-40A>G (n.433-40A>G)
c.5587-40A>G (n.5587-40A>G)
c.1555-40A>G (n.1555-40A>G)
c.5575-40A>G (n.5575-40A>G)
n.336-126263A>G
c.244-40A>G (n.244-40A>G)
c.5563-40A>G (n.5563-40A>G)
c.5218-40A>G (n.5218-40A>G)
c.1564-40A>G (n.1564-40A>G)
c.5458-40A>G (n.5458-40A>G)
c.5449-40A>G (n.5449-40A>G)
c.5464-40A>G (n.5464-40A>G)
 gnomAD v4
Xg.32343326T=CA2422760864DMDc.433-40A= (n.433-40A=)
c.5587-40A= (n.5587-40A=)
c.1555-40A= (n.1555-40A=)
c.5575-40A= (n.5575-40A=)
n.336-126263A=
c.244-40A= (n.244-40A=)
c.5563-40A= (n.5563-40A=)
c.5218-40A= (n.5218-40A=)
c.1564-40A= (n.1564-40A=)
c.5458-40A= (n.5458-40A=)
c.5449-40A= (n.5449-40A=)
c.5464-40A= (n.5464-40A=)
Xg.32343327G>ACA2579579444DMDc.433-41C>T (n.433-41C>T)
c.5587-41C>T (n.5587-41C>T)
c.1555-41C>T (n.1555-41C>T)
c.5575-41C>T (n.5575-41C>T)
n.336-126264C>T
c.244-41C>T (n.244-41C>T)
c.5563-41C>T (n.5563-41C>T)
c.5218-41C>T (n.5218-41C>T)
c.1564-41C>T (n.1564-41C>T)
c.5458-41C>T (n.5458-41C>T)
c.5449-41C>T (n.5449-41C>T)
c.5464-41C>T (n.5464-41C>T)
 gnomAD v4
Xg.32343327G>TCA2693393778DMDc.433-41C>A (n.433-41C>A)
c.5587-41C>A (n.5587-41C>A)
c.1555-41C>A (n.1555-41C>A)
c.5575-41C>A (n.5575-41C>A)
n.336-126264C>A
c.244-41C>A (n.244-41C>A)
c.5563-41C>A (n.5563-41C>A)
c.5218-41C>A (n.5218-41C>A)
c.1564-41C>A (n.1564-41C>A)
c.5458-41C>A (n.5458-41C>A)
c.5449-41C>A (n.5449-41C>A)
c.5464-41C>A (n.5464-41C>A)
 gnomAD v4
Xg.32343328T>CCA2693393779DMDc.433-42A>G (n.433-42A>G)
c.5587-42A>G (n.5587-42A>G)
c.1555-42A>G (n.1555-42A>G)
c.5575-42A>G (n.5575-42A>G)
n.336-126265A>G
c.244-42A>G (n.244-42A>G)
c.5563-42A>G (n.5563-42A>G)
c.5218-42A>G (n.5218-42A>G)
c.1564-42A>G (n.1564-42A>G)
c.5458-42A>G (n.5458-42A>G)
c.5449-42A>G (n.5449-42A>G)
c.5464-42A>G (n.5464-42A>G)
 gnomAD v4
Xg.32343329A>GCA2693393780DMDc.433-43T>C (n.433-43T>C)
c.5587-43T>C (n.5587-43T>C)
c.1555-43T>C (n.1555-43T>C)
c.5575-43T>C (n.5575-43T>C)
n.336-126266T>C
c.244-43T>C (n.244-43T>C)
c.5563-43T>C (n.5563-43T>C)
c.5218-43T>C (n.5218-43T>C)
c.1564-43T>C (n.1564-43T>C)
c.5458-43T>C (n.5458-43T>C)
c.5449-43T>C (n.5449-43T>C)
c.5464-43T>C (n.5464-43T>C)
 gnomAD v4
Xg.32343330T>ACA2579579445DMDc.433-44A>T (n.433-44A>T)
c.5587-44A>T (n.5587-44A>T)
c.1555-44A>T (n.1555-44A>T)
c.5575-44A>T (n.5575-44A>T)
n.336-126267A>T
c.244-44A>T (n.244-44A>T)
c.5563-44A>T (n.5563-44A>T)
c.5218-44A>T (n.5218-44A>T)
c.1564-44A>T (n.1564-44A>T)
c.5458-44A>T (n.5458-44A>T)
c.5449-44A>T (n.5449-44A>T)
c.5464-44A>T (n.5464-44A>T)
Xg.32343330T>CCA10378636DMDc.433-44A>G (n.433-44A>G)
c.5587-44A>G (n.5587-44A>G)
c.1555-44A>G (n.1555-44A>G)
c.5575-44A>G (n.5575-44A>G)
n.336-126267A>G
c.244-44A>G (n.244-44A>G)
c.5563-44A>G (n.5563-44A>G)
c.5218-44A>G (n.5218-44A>G)
c.1564-44A>G (n.1564-44A>G)
c.5458-44A>G (n.5458-44A>G)
c.5449-44A>G (n.5449-44A>G)
c.5464-44A>G (n.5464-44A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32343330T=CA2422760865DMDc.433-44A= (n.433-44A=)
c.5587-44A= (n.5587-44A=)
c.1555-44A= (n.1555-44A=)
c.5575-44A= (n.5575-44A=)
n.336-126267A=
c.244-44A= (n.244-44A=)
c.5563-44A= (n.5563-44A=)
c.5218-44A= (n.5218-44A=)
c.1564-44A= (n.1564-44A=)
c.5458-44A= (n.5458-44A=)
c.5449-44A= (n.5449-44A=)
c.5464-44A= (n.5464-44A=)
Xg.32343331A=CA2422760866DMDc.433-45T= (n.433-45T=)
c.5587-45T= (n.5587-45T=)
c.1555-45T= (n.1555-45T=)
c.5575-45T= (n.5575-45T=)
n.336-126268T=
c.244-45T= (n.244-45T=)
c.5563-45T= (n.5563-45T=)
c.5218-45T= (n.5218-45T=)
c.1564-45T= (n.1564-45T=)
c.5458-45T= (n.5458-45T=)
c.5449-45T= (n.5449-45T=)
c.5464-45T= (n.5464-45T=)
Xg.32343331A>GCA327982328DMDc.433-45T>C (n.433-45T>C)
c.5587-45T>C (n.5587-45T>C)
c.1555-45T>C (n.1555-45T>C)
c.5575-45T>C (n.5575-45T>C)
n.336-126268T>C
c.244-45T>C (n.244-45T>C)
c.5563-45T>C (n.5563-45T>C)
c.5218-45T>C (n.5218-45T>C)
c.1564-45T>C (n.1564-45T>C)
c.5458-45T>C (n.5458-45T>C)
c.5449-45T>C (n.5449-45T>C)
c.5464-45T>C (n.5464-45T>C)
 dbSNP
Xg.32343331A>TCA10378637DMDc.433-45T>A (n.433-45T>A)
c.5587-45T>A (n.5587-45T>A)
c.1555-45T>A (n.1555-45T>A)
c.5575-45T>A (n.5575-45T>A)
n.336-126268T>A
c.244-45T>A (n.244-45T>A)
c.5563-45T>A (n.5563-45T>A)
c.5218-45T>A (n.5218-45T>A)
c.1564-45T>A (n.1564-45T>A)
c.5458-45T>A (n.5458-45T>A)
c.5449-45T>A (n.5449-45T>A)
c.5464-45T>A (n.5464-45T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343332G>ACA2820320582DMDc.433-46C>T (n.433-46C>T)
c.5587-46C>T (n.5587-46C>T)
c.1555-46C>T (n.1555-46C>T)
c.5575-46C>T (n.5575-46C>T)
n.336-126269C>T
c.244-46C>T (n.244-46C>T)
c.5563-46C>T (n.5563-46C>T)
c.5218-46C>T (n.5218-46C>T)
c.1564-46C>T (n.1564-46C>T)
c.5458-46C>T (n.5458-46C>T)
c.5449-46C>T (n.5449-46C>T)
c.5464-46C>T (n.5464-46C>T)
Xg.32343332G>TCA2693393781DMDc.433-46C>A (n.433-46C>A)
c.5587-46C>A (n.5587-46C>A)
c.1555-46C>A (n.1555-46C>A)
c.5575-46C>A (n.5575-46C>A)
n.336-126269C>A
c.244-46C>A (n.244-46C>A)
c.5563-46C>A (n.5563-46C>A)
c.5218-46C>A (n.5218-46C>A)
c.1564-46C>A (n.1564-46C>A)
c.5458-46C>A (n.5458-46C>A)
c.5449-46C>A (n.5449-46C>A)
c.5464-46C>A (n.5464-46C>A)
 gnomAD v4
Xg.32343333T>CCA2693393782DMDc.433-47A>G (n.433-47A>G)
c.5587-47A>G (n.5587-47A>G)
c.1555-47A>G (n.1555-47A>G)
c.5575-47A>G (n.5575-47A>G)
n.336-126270A>G
c.244-47A>G (n.244-47A>G)
c.5563-47A>G (n.5563-47A>G)
c.5218-47A>G (n.5218-47A>G)
c.1564-47A>G (n.1564-47A>G)
c.5458-47A>G (n.5458-47A>G)
c.5449-47A>G (n.5449-47A>G)
c.5464-47A>G (n.5464-47A>G)
 gnomAD v4
Xg.32343334G>ACA327982352DMDc.433-48C>T (n.433-48C>T)
c.5587-48C>T (n.5587-48C>T)
c.1555-48C>T (n.1555-48C>T)
c.5575-48C>T (n.5575-48C>T)
n.336-126271C>T
c.244-48C>T (n.244-48C>T)
c.5563-48C>T (n.5563-48C>T)
c.5218-48C>T (n.5218-48C>T)
c.1564-48C>T (n.1564-48C>T)
c.5458-48C>T (n.5458-48C>T)
c.5449-48C>T (n.5449-48C>T)
c.5464-48C>T (n.5464-48C>T)
 dbSNP gnomAD v4
Xg.32343334G=CA2422760867DMDc.433-48C= (n.433-48C=)
c.5587-48C= (n.5587-48C=)
c.1555-48C= (n.1555-48C=)
c.5575-48C= (n.5575-48C=)
n.336-126271C=
c.244-48C= (n.244-48C=)
c.5563-48C= (n.5563-48C=)
c.5218-48C= (n.5218-48C=)
c.1564-48C= (n.1564-48C=)
c.5458-48C= (n.5458-48C=)
c.5449-48C= (n.5449-48C=)
c.5464-48C= (n.5464-48C=)
Xg.32343334G>TCA2693393783DMDc.433-48C>A (n.433-48C>A)
c.5587-48C>A (n.5587-48C>A)
c.1555-48C>A (n.1555-48C>A)
c.5575-48C>A (n.5575-48C>A)
n.336-126271C>A
c.244-48C>A (n.244-48C>A)
c.5563-48C>A (n.5563-48C>A)
c.5218-48C>A (n.5218-48C>A)
c.1564-48C>A (n.1564-48C>A)
c.5458-48C>A (n.5458-48C>A)
c.5449-48C>A (n.5449-48C>A)
c.5464-48C>A (n.5464-48C>A)
 gnomAD v4
Xg.32343335C>ACA2693393784DMDc.433-49G>T (n.433-49G>T)
c.5587-49G>T (n.5587-49G>T)
c.1555-49G>T (n.1555-49G>T)
c.5575-49G>T (n.5575-49G>T)
n.336-126272G>T
c.244-49G>T (n.244-49G>T)
c.5563-49G>T (n.5563-49G>T)
c.5218-49G>T (n.5218-49G>T)
c.1564-49G>T (n.1564-49G>T)
c.5458-49G>T (n.5458-49G>T)
c.5449-49G>T (n.5449-49G>T)
c.5464-49G>T (n.5464-49G>T)
 gnomAD v4
Xg.32343335C>TCA2693393785DMDc.433-49G>A (n.433-49G>A)
c.5587-49G>A (n.5587-49G>A)
c.1555-49G>A (n.1555-49G>A)
c.5575-49G>A (n.5575-49G>A)
n.336-126272G>A
c.244-49G>A (n.244-49G>A)
c.5563-49G>A (n.5563-49G>A)
c.5218-49G>A (n.5218-49G>A)
c.1564-49G>A (n.1564-49G>A)
c.5458-49G>A (n.5458-49G>A)
c.5449-49G>A (n.5449-49G>A)
c.5464-49G>A (n.5464-49G>A)
 gnomAD v4
Xg.32343337C>ACA640962881DMDc.433-51G>T (n.433-51G>T)
c.5587-51G>T (n.5587-51G>T)
c.1555-51G>T (n.1555-51G>T)
c.5575-51G>T (n.5575-51G>T)
n.336-126274G>T
c.244-51G>T (n.244-51G>T)
c.5563-51G>T (n.5563-51G>T)
c.5218-51G>T (n.5218-51G>T)
c.1564-51G>T (n.1564-51G>T)
c.5458-51G>T (n.5458-51G>T)
c.5449-51G>T (n.5449-51G>T)
c.5464-51G>T (n.5464-51G>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.32343337C=CA2422760868DMDc.433-51G= (n.433-51G=)
c.5587-51G= (n.5587-51G=)
c.1555-51G= (n.1555-51G=)
c.5575-51G= (n.5575-51G=)
n.336-126274G=
c.244-51G= (n.244-51G=)
c.5563-51G= (n.5563-51G=)
c.5218-51G= (n.5218-51G=)
c.1564-51G= (n.1564-51G=)
c.5458-51G= (n.5458-51G=)
c.5449-51G= (n.5449-51G=)
c.5464-51G= (n.5464-51G=)
Xg.32343337C>TCA2422760869DMDc.433-51G>A (n.433-51G>A)
c.5587-51G>A (n.5587-51G>A)
c.1555-51G>A (n.1555-51G>A)
c.5575-51G>A (n.5575-51G>A)
n.336-126274G>A
c.244-51G>A (n.244-51G>A)
c.5563-51G>A (n.5563-51G>A)
c.5218-51G>A (n.5218-51G>A)
c.1564-51G>A (n.1564-51G>A)
c.5458-51G>A (n.5458-51G>A)
c.5449-51G>A (n.5449-51G>A)
c.5464-51G>A (n.5464-51G>A)
 dbSNP gnomAD v4

Number of alleles fetched