UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32343202T>A | CA267074 | DMD | c.517A>T (p.Lys173Ter) c.5671A>T (p.Lys1891Ter) c.1639A>T (p.Lys547Ter) c.5659A>T (p.Lys1887Ter) n.336-126139A>T c.328A>T (p.Lys110Ter) c.5647A>T (p.Lys1883Ter) c.5302A>T (p.Lys1768Ter) c.1648A>T (p.Lys550Ter) c.5542A>T (p.Lys1848Ter) c.5533A>T (p.Lys1845Ter) c.5548A>T (p.Lys1850Ter) | dbSNP |
| X | g.32343202T>C | CA412665922 | DMD | c.517A>G (p.Lys173Glu) c.5671A>G (p.Lys1891Glu) c.1639A>G (p.Lys547Glu) c.5659A>G (p.Lys1887Glu) n.336-126139A>G c.328A>G (p.Lys110Glu) c.5647A>G (p.Lys1883Glu) c.5302A>G (p.Lys1768Glu) c.1648A>G (p.Lys550Glu) c.5542A>G (p.Lys1848Glu) c.5533A>G (p.Lys1845Glu) c.5548A>G (p.Lys1850Glu) | |
| X | g.32343202T>G | CA412665924 | DMD | c.517A>C (p.Lys173Gln) c.5671A>C (p.Lys1891Gln) c.1639A>C (p.Lys547Gln) c.5659A>C (p.Lys1887Gln) n.336-126139A>C c.328A>C (p.Lys110Gln) c.5647A>C (p.Lys1883Gln) c.5302A>C (p.Lys1768Gln) c.1648A>C (p.Lys550Gln) c.5542A>C (p.Lys1848Gln) c.5533A>C (p.Lys1845Gln) c.5548A>C (p.Lys1850Gln) | |
| X | g.32343202T= | CA2422760806 | DMD | c.517A= (p.Lys173=) c.5671A= (p.Lys1891=) c.1639A= (p.Lys547=) c.5659A= (p.Lys1887=) n.336-126139A= c.328A= (p.Lys110=) c.5647A= (p.Lys1883=) c.5302A= (p.Lys1768=) c.1648A= (p.Lys550=) c.5542A= (p.Lys1848=) c.5533A= (p.Lys1845=) c.5548A= (p.Lys1850=) | |
| X | g.32343203C>A | CA515713956 | DMD | c.516G>T (p.Leu172=) c.5670G>T (p.Leu1890=) c.1638G>T (p.Leu546=) c.5658G>T (p.Leu1886=) n.336-126140G>T c.327G>T (p.Leu109=) c.5646G>T (p.Leu1882=) c.5301G>T (p.Leu1767=) c.1647G>T (p.Leu549=) c.5541G>T (p.Leu1847=) c.5532G>T (p.Leu1844=) c.5547G>T (p.Leu1849=) | |
| X | g.32343203C>G | CA515713958 | DMD | c.516G>C (p.Leu172=) c.5670G>C (p.Leu1890=) c.1638G>C (p.Leu546=) c.5658G>C (p.Leu1886=) n.336-126140G>C c.327G>C (p.Leu109=) c.5646G>C (p.Leu1882=) c.5301G>C (p.Leu1767=) c.1647G>C (p.Leu549=) c.5541G>C (p.Leu1847=) c.5532G>C (p.Leu1844=) c.5547G>C (p.Leu1849=) | |
| X | g.32343203C>T | CA515713959 | DMD | c.516G>A (p.Leu172=) c.5670G>A (p.Leu1890=) c.1638G>A (p.Leu546=) c.5658G>A (p.Leu1886=) n.336-126140G>A c.327G>A (p.Leu109=) c.5646G>A (p.Leu1882=) c.5301G>A (p.Leu1767=) c.1647G>A (p.Leu549=) c.5541G>A (p.Leu1847=) c.5532G>A (p.Leu1844=) c.5547G>A (p.Leu1849=) | |
| X | g.32343204A>C | CA412665930 | DMD | c.515T>G (p.Leu172Arg) c.5669T>G (p.Leu1890Arg) c.1637T>G (p.Leu546Arg) c.5657T>G (p.Leu1886Arg) n.336-126141T>G c.326T>G (p.Leu109Arg) c.5645T>G (p.Leu1882Arg) c.5300T>G (p.Leu1767Arg) c.1646T>G (p.Leu549Arg) c.5540T>G (p.Leu1847Arg) c.5531T>G (p.Leu1844Arg) c.5546T>G (p.Leu1849Arg) | |
| X | g.32343204A>G | CA412665932 | DMD | c.515T>C (p.Leu172Pro) c.5669T>C (p.Leu1890Pro) c.1637T>C (p.Leu546Pro) c.5657T>C (p.Leu1886Pro) n.336-126141T>C c.326T>C (p.Leu109Pro) c.5645T>C (p.Leu1882Pro) c.5300T>C (p.Leu1767Pro) c.1646T>C (p.Leu549Pro) c.5540T>C (p.Leu1847Pro) c.5531T>C (p.Leu1844Pro) c.5546T>C (p.Leu1849Pro) | |
| X | g.32343204A>T | CA412665931 | DMD | c.515T>A (p.Leu172Gln) c.5669T>A (p.Leu1890Gln) c.1637T>A (p.Leu546Gln) c.5657T>A (p.Leu1886Gln) n.336-126141T>A c.326T>A (p.Leu109Gln) c.5645T>A (p.Leu1882Gln) c.5300T>A (p.Leu1767Gln) c.1646T>A (p.Leu549Gln) c.5540T>A (p.Leu1847Gln) c.5531T>A (p.Leu1844Gln) c.5546T>A (p.Leu1849Gln) | |
| X | g.32343206_32343208del | CA2693393767 | DMD | c.513_515del (p.Leu172del) c.5667_5669del (p.Leu1890del) c.1635_1637del (p.Leu546del) c.5655_5657del (p.Leu1886del) n.336-126143_336-126141del c.324_326del (p.Leu109del) c.5643_5645del (p.Leu1882del) c.5298_5300del (p.Leu1767del) c.1644_1646del (p.Leu549del) c.5538_5540del (p.Leu1847del) c.5529_5531del (p.Leu1844del) c.5544_5546del (p.Leu1849del) | gnomAD v4 |
| X | g.32343205G>A | CA515713966 | DMD | c.514C>T (p.Leu172=) c.5668C>T (p.Leu1890=) c.1636C>T (p.Leu546=) c.5656C>T (p.Leu1886=) n.336-126142C>T c.325C>T (p.Leu109=) c.5644C>T (p.Leu1882=) c.5299C>T (p.Leu1767=) c.1645C>T (p.Leu549=) c.5539C>T (p.Leu1847=) c.5530C>T (p.Leu1844=) c.5545C>T (p.Leu1849=) | COSMIC COSMIC COSMIC |
| X | g.32343205G>C | CA412665934 | DMD | c.514C>G (p.Leu172Val) c.5668C>G (p.Leu1890Val) c.1636C>G (p.Leu546Val) c.5656C>G (p.Leu1886Val) n.336-126142C>G c.325C>G (p.Leu109Val) c.5644C>G (p.Leu1882Val) c.5299C>G (p.Leu1767Val) c.1645C>G (p.Leu549Val) c.5539C>G (p.Leu1847Val) c.5530C>G (p.Leu1844Val) c.5545C>G (p.Leu1849Val) | |
| X | g.32343205G>T | CA412665936 | DMD | c.514C>A (p.Leu172Met) c.5668C>A (p.Leu1890Met) c.1636C>A (p.Leu546Met) c.5656C>A (p.Leu1886Met) n.336-126142C>A c.325C>A (p.Leu109Met) c.5644C>A (p.Leu1882Met) c.5299C>A (p.Leu1767Met) c.1645C>A (p.Leu549Met) c.5539C>A (p.Leu1847Met) c.5530C>A (p.Leu1844Met) c.5545C>A (p.Leu1849Met) | |
| X | g.32343206G>A | CA515713967 | DMD | c.513C>T (p.Leu171=) c.5667C>T (p.Leu1889=) c.1635C>T (p.Leu545=) c.5655C>T (p.Leu1885=) n.336-126143C>T c.324C>T (p.Leu108=) c.5643C>T (p.Leu1881=) c.5298C>T (p.Leu1766=) c.1644C>T (p.Leu548=) c.5538C>T (p.Leu1846=) c.5529C>T (p.Leu1843=) c.5544C>T (p.Leu1848=) | ClinVar dbSNP |
| X | g.32343206G>C | CA515713971 | DMD | c.513C>G (p.Leu171=) c.5667C>G (p.Leu1889=) c.1635C>G (p.Leu545=) c.5655C>G (p.Leu1885=) n.336-126143C>G c.324C>G (p.Leu108=) c.5643C>G (p.Leu1881=) c.5298C>G (p.Leu1766=) c.1644C>G (p.Leu548=) c.5538C>G (p.Leu1846=) c.5529C>G (p.Leu1843=) c.5544C>G (p.Leu1848=) | ClinVar |
| X | g.32343206G>T | CA515713969 | DMD | c.513C>A (p.Leu171=) c.5667C>A (p.Leu1889=) c.1635C>A (p.Leu545=) c.5655C>A (p.Leu1885=) n.336-126143C>A c.324C>A (p.Leu108=) c.5643C>A (p.Leu1881=) c.5298C>A (p.Leu1766=) c.1644C>A (p.Leu548=) c.5538C>A (p.Leu1846=) c.5529C>A (p.Leu1843=) c.5544C>A (p.Leu1848=) | |
| X | g.32343207A= | CA2422760807 | DMD | c.512T= (p.Leu171=) c.5666T= (p.Leu1889=) c.1634T= (p.Leu545=) c.5654T= (p.Leu1885=) n.336-126144T= c.323T= (p.Leu108=) c.5642T= (p.Leu1881=) c.5297T= (p.Leu1766=) c.1643T= (p.Leu548=) c.5537T= (p.Leu1846=) c.5528T= (p.Leu1843=) c.5543T= (p.Leu1848=) | |
| X | g.32343207A>C | CA412665938 | DMD | c.512T>G (p.Leu171Arg) c.5666T>G (p.Leu1889Arg) c.1634T>G (p.Leu545Arg) c.5654T>G (p.Leu1885Arg) n.336-126144T>G c.323T>G (p.Leu108Arg) c.5642T>G (p.Leu1881Arg) c.5297T>G (p.Leu1766Arg) c.1643T>G (p.Leu548Arg) c.5537T>G (p.Leu1846Arg) c.5528T>G (p.Leu1843Arg) c.5543T>G (p.Leu1848Arg) | |
| X | g.32343207A>G | CA412665939 | DMD | c.512T>C (p.Leu171Pro) c.5666T>C (p.Leu1889Pro) c.1634T>C (p.Leu545Pro) c.5654T>C (p.Leu1885Pro) n.336-126144T>C c.323T>C (p.Leu108Pro) c.5642T>C (p.Leu1881Pro) c.5297T>C (p.Leu1766Pro) c.1643T>C (p.Leu548Pro) c.5537T>C (p.Leu1846Pro) c.5528T>C (p.Leu1843Pro) c.5543T>C (p.Leu1848Pro) | |
| X | g.32343207A>T | CA412665940 | DMD | c.512T>A (p.Leu171His) c.5666T>A (p.Leu1889His) c.1634T>A (p.Leu545His) c.5654T>A (p.Leu1885His) n.336-126144T>A c.323T>A (p.Leu108His) c.5642T>A (p.Leu1881His) c.5297T>A (p.Leu1766His) c.1643T>A (p.Leu548His) c.5537T>A (p.Leu1846His) c.5528T>A (p.Leu1843His) c.5543T>A (p.Leu1848His) | dbSNP |
| X | g.32343208G>A | CA412665943 | DMD | c.511C>T (p.Leu171Phe) c.5665C>T (p.Leu1889Phe) c.1633C>T (p.Leu545Phe) c.5653C>T (p.Leu1885Phe) n.336-126145C>T c.322C>T (p.Leu108Phe) c.5641C>T (p.Leu1881Phe) c.5296C>T (p.Leu1766Phe) c.1642C>T (p.Leu548Phe) c.5536C>T (p.Leu1846Phe) c.5527C>T (p.Leu1843Phe) c.5542C>T (p.Leu1848Phe) | dbSNP |
| X | g.32343208G>C | CA412665947 | DMD | c.511C>G (p.Leu171Val) c.5665C>G (p.Leu1889Val) c.1633C>G (p.Leu545Val) c.5653C>G (p.Leu1885Val) n.336-126145C>G c.322C>G (p.Leu108Val) c.5641C>G (p.Leu1881Val) c.5296C>G (p.Leu1766Val) c.1642C>G (p.Leu548Val) c.5536C>G (p.Leu1846Val) c.5527C>G (p.Leu1843Val) c.5542C>G (p.Leu1848Val) | |
| X | g.32343208G= | CA2422760808 | DMD | c.511C= (p.Leu171=) c.5665C= (p.Leu1889=) c.1633C= (p.Leu545=) c.5653C= (p.Leu1885=) n.336-126145C= c.322C= (p.Leu108=) c.5641C= (p.Leu1881=) c.5296C= (p.Leu1766=) c.1642C= (p.Leu548=) c.5536C= (p.Leu1846=) c.5527C= (p.Leu1843=) c.5542C= (p.Leu1848=) | |
| X | g.32343208G>T | CA412665950 | DMD | c.511C>A (p.Leu171Ile) c.5665C>A (p.Leu1889Ile) c.1633C>A (p.Leu545Ile) c.5653C>A (p.Leu1885Ile) n.336-126145C>A c.322C>A (p.Leu108Ile) c.5641C>A (p.Leu1881Ile) c.5296C>A (p.Leu1766Ile) c.1642C>A (p.Leu548Ile) c.5536C>A (p.Leu1846Ile) c.5527C>A (p.Leu1843Ile) c.5542C>A (p.Leu1848Ile) | |
| X | g.32343209A>C | CA412665951 | DMD | c.510T>G (p.Asp170Glu) c.5664T>G (p.Asp1888Glu) c.1632T>G (p.Asp544Glu) c.5652T>G (p.Asp1884Glu) n.336-126146T>G c.321T>G (p.Asp107Glu) c.5640T>G (p.Asp1880Glu) c.5295T>G (p.Asp1765Glu) c.1641T>G (p.Asp547Glu) c.5535T>G (p.Asp1845Glu) c.5526T>G (p.Asp1842Glu) c.5541T>G (p.Asp1847Glu) | |
| X | g.32343209A>G | CA515713976 | DMD | c.510T>C (p.Asp170=) c.5664T>C (p.Asp1888=) c.1632T>C (p.Asp544=) c.5652T>C (p.Asp1884=) n.336-126146T>C c.321T>C (p.Asp107=) c.5640T>C (p.Asp1880=) c.5295T>C (p.Asp1765=) c.1641T>C (p.Asp547=) c.5535T>C (p.Asp1845=) c.5526T>C (p.Asp1842=) c.5541T>C (p.Asp1847=) | |
| X | g.32343209A>T | CA412665952 | DMD | c.510T>A (p.Asp170Glu) c.5664T>A (p.Asp1888Glu) c.1632T>A (p.Asp544Glu) c.5652T>A (p.Asp1884Glu) n.336-126146T>A c.321T>A (p.Asp107Glu) c.5640T>A (p.Asp1880Glu) c.5295T>A (p.Asp1765Glu) c.1641T>A (p.Asp547Glu) c.5535T>A (p.Asp1845Glu) c.5526T>A (p.Asp1842Glu) c.5541T>A (p.Asp1847Glu) | |
| X | g.32343213_32343215del | CA2507367724 | DMD | c.508_510del (p.Asp170del) c.5662_5664del (p.Asp1888del) c.1630_1632del (p.Asp544del) c.5650_5652del (p.Asp1884del) n.336-126148_336-126146del c.319_321del (p.Asp107del) c.5638_5640del (p.Asp1880del) c.5293_5295del (p.Asp1765del) c.1639_1641del (p.Asp547del) c.5533_5535del (p.Asp1845del) c.5524_5526del (p.Asp1842del) c.5539_5541del (p.Asp1847del) | |
| X | g.32343210T>A | CA412665960 | DMD | c.509A>T (p.Asp170Val) c.5663A>T (p.Asp1888Val) c.1631A>T (p.Asp544Val) c.5651A>T (p.Asp1884Val) n.336-126147A>T c.320A>T (p.Asp107Val) c.5639A>T (p.Asp1880Val) c.5294A>T (p.Asp1765Val) c.1640A>T (p.Asp547Val) c.5534A>T (p.Asp1845Val) c.5525A>T (p.Asp1842Val) c.5540A>T (p.Asp1847Val) | |
| X | g.32343210T>C | CA412665957 | DMD | c.509A>G (p.Asp170Gly) c.5663A>G (p.Asp1888Gly) c.1631A>G (p.Asp544Gly) c.5651A>G (p.Asp1884Gly) n.336-126147A>G c.320A>G (p.Asp107Gly) c.5639A>G (p.Asp1880Gly) c.5294A>G (p.Asp1765Gly) c.1640A>G (p.Asp547Gly) c.5534A>G (p.Asp1845Gly) c.5525A>G (p.Asp1842Gly) c.5540A>G (p.Asp1847Gly) | ClinVar dbSNP |
| X | g.32343210T>G | CA412665954 | DMD | c.509A>C (p.Asp170Ala) c.5663A>C (p.Asp1888Ala) c.1631A>C (p.Asp544Ala) c.5651A>C (p.Asp1884Ala) n.336-126147A>C c.320A>C (p.Asp107Ala) c.5639A>C (p.Asp1880Ala) c.5294A>C (p.Asp1765Ala) c.1640A>C (p.Asp547Ala) c.5534A>C (p.Asp1845Ala) c.5525A>C (p.Asp1842Ala) c.5540A>C (p.Asp1847Ala) | |
| X | g.32343210T= | CA2422760809 | DMD | c.509A= (p.Asp170=) c.5663A= (p.Asp1888=) c.1631A= (p.Asp544=) c.5651A= (p.Asp1884=) n.336-126147A= c.320A= (p.Asp107=) c.5639A= (p.Asp1880=) c.5294A= (p.Asp1765=) c.1640A= (p.Asp547=) c.5534A= (p.Asp1845=) c.5525A= (p.Asp1842=) c.5540A= (p.Asp1847=) | |
| X | g.32343211del | CA2580100655 | DMD | c.508del (p.Asp170IlefsTer3) c.5662del (p.Asp1888IlefsTer3) c.1630del (p.Asp544IlefsTer3) c.5650del (p.Asp1884IlefsTer3) n.336-126148del c.319del (p.Asp107IlefsTer3) c.5638del (p.Asp1880IlefsTer3) c.5293del (p.Asp1765IlefsTer3) c.1639del (p.Asp547IlefsTer3) c.5533del (p.Asp1845IlefsTer3) c.5524del (p.Asp1842IlefsTer3) c.5539del (p.Asp1847IlefsTer3) | ClinVar |
| X | g.32343211C>A | CA412665963 | DMD | c.508G>T (p.Asp170Tyr) c.5662G>T (p.Asp1888Tyr) c.1630G>T (p.Asp544Tyr) c.5650G>T (p.Asp1884Tyr) n.336-126148G>T c.319G>T (p.Asp107Tyr) c.5638G>T (p.Asp1880Tyr) c.5293G>T (p.Asp1765Tyr) c.1639G>T (p.Asp547Tyr) c.5533G>T (p.Asp1845Tyr) c.5524G>T (p.Asp1842Tyr) c.5539G>T (p.Asp1847Tyr) | COSMIC COSMIC COSMIC COSMIC |
| X | g.32343211C>G | CA412665973 | DMD | c.508G>C (p.Asp170His) c.5662G>C (p.Asp1888His) c.1630G>C (p.Asp544His) c.5650G>C (p.Asp1884His) n.336-126148G>C c.319G>C (p.Asp107His) c.5638G>C (p.Asp1880His) c.5293G>C (p.Asp1765His) c.1639G>C (p.Asp547His) c.5533G>C (p.Asp1845His) c.5524G>C (p.Asp1842His) c.5539G>C (p.Asp1847His) | |
| X | g.32343211C>T | CA412665970 | DMD | c.508G>A (p.Asp170Asn) c.5662G>A (p.Asp1888Asn) c.1630G>A (p.Asp544Asn) c.5650G>A (p.Asp1884Asn) n.336-126148G>A c.319G>A (p.Asp107Asn) c.5638G>A (p.Asp1880Asn) c.5293G>A (p.Asp1765Asn) c.1639G>A (p.Asp547Asn) c.5533G>A (p.Asp1845Asn) c.5524G>A (p.Asp1842Asn) c.5539G>A (p.Asp1847Asn) | ClinVar |
| X | g.32343212A>C | CA412665979 | DMD | c.507T>G (p.Asp169Glu) c.5661T>G (p.Asp1887Glu) c.1629T>G (p.Asp543Glu) c.5649T>G (p.Asp1883Glu) n.336-126149T>G c.318T>G (p.Asp106Glu) c.5637T>G (p.Asp1879Glu) c.5292T>G (p.Asp1764Glu) c.1638T>G (p.Asp546Glu) c.5532T>G (p.Asp1844Glu) c.5523T>G (p.Asp1841Glu) c.5538T>G (p.Asp1846Glu) | gnomAD v4 |
| X | g.32343212A>G | CA515713985 | DMD | c.507T>C (p.Asp169=) c.5661T>C (p.Asp1887=) c.1629T>C (p.Asp543=) c.5649T>C (p.Asp1883=) n.336-126149T>C c.318T>C (p.Asp106=) c.5637T>C (p.Asp1879=) c.5292T>C (p.Asp1764=) c.1638T>C (p.Asp546=) c.5532T>C (p.Asp1844=) c.5523T>C (p.Asp1841=) c.5538T>C (p.Asp1846=) | ClinVar |
| X | g.32343212A>T | CA412665980 | DMD | c.507T>A (p.Asp169Glu) c.5661T>A (p.Asp1887Glu) c.1629T>A (p.Asp543Glu) c.5649T>A (p.Asp1883Glu) n.336-126149T>A c.318T>A (p.Asp106Glu) c.5637T>A (p.Asp1879Glu) c.5292T>A (p.Asp1764Glu) c.1638T>A (p.Asp546Glu) c.5532T>A (p.Asp1844Glu) c.5523T>A (p.Asp1841Glu) c.5538T>A (p.Asp1846Glu) | |
| X | g.32343213T>A | CA412665981 | DMD | c.506A>T (p.Asp169Val) c.5660A>T (p.Asp1887Val) c.1628A>T (p.Asp543Val) c.5648A>T (p.Asp1883Val) n.336-126150A>T c.317A>T (p.Asp106Val) c.5636A>T (p.Asp1879Val) c.5291A>T (p.Asp1764Val) c.1637A>T (p.Asp546Val) c.5531A>T (p.Asp1844Val) c.5522A>T (p.Asp1841Val) c.5537A>T (p.Asp1846Val) | |
| X | g.32343213T>C | CA412665984 | DMD | c.506A>G (p.Asp169Gly) c.5660A>G (p.Asp1887Gly) c.1628A>G (p.Asp543Gly) c.5648A>G (p.Asp1883Gly) n.336-126150A>G c.317A>G (p.Asp106Gly) c.5636A>G (p.Asp1879Gly) c.5291A>G (p.Asp1764Gly) c.1637A>G (p.Asp546Gly) c.5531A>G (p.Asp1844Gly) c.5522A>G (p.Asp1841Gly) c.5537A>G (p.Asp1846Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.32343213T>G | CA412665988 | DMD | c.506A>C (p.Asp169Ala) c.5660A>C (p.Asp1887Ala) c.1628A>C (p.Asp543Ala) c.5648A>C (p.Asp1883Ala) n.336-126150A>C c.317A>C (p.Asp106Ala) c.5636A>C (p.Asp1879Ala) c.5291A>C (p.Asp1764Ala) c.1637A>C (p.Asp546Ala) c.5531A>C (p.Asp1844Ala) c.5522A>C (p.Asp1841Ala) c.5537A>C (p.Asp1846Ala) | |
| X | g.32343213T= | CA2422760810 | DMD | c.506A= (p.Asp169=) c.5660A= (p.Asp1887=) c.1628A= (p.Asp543=) c.5648A= (p.Asp1883=) n.336-126150A= c.317A= (p.Asp106=) c.5636A= (p.Asp1879=) c.5291A= (p.Asp1764=) c.1637A= (p.Asp546=) c.5531A= (p.Asp1844=) c.5522A= (p.Asp1841=) c.5537A= (p.Asp1846=) | |
| X | g.32343213_32343216delinsCTGA | CA916079867 | DMD | c.503_506delinsTCAG (p.Ala168_Asp169delinsValSer) c.5657_5660delinsTCAG (p.Ala1886_Asp1887delinsValSer) c.1625_1628delinsTCAG (p.Ala542_Asp543delinsValSer) c.5645_5648delinsTCAG (p.Ala1882_Asp1883delinsValSer) n.336-126153_336-126150delinsTCAG c.314_317delinsTCAG (p.Ala105_Asp106delinsValSer) c.5633_5636delinsTCAG (p.Ala1878_Asp1879delinsValSer) c.5288_5291delinsTCAG (p.Ala1763_Asp1764delinsValSer) c.1634_1637delinsTCAG (p.Ala545_Asp546delinsValSer) c.5528_5531delinsTCAG (p.Ala1843_Asp1844delinsValSer) c.5519_5522delinsTCAG (p.Ala1840_Asp1841delinsValSer) c.5534_5537delinsTCAG (p.Ala1845_Asp1846delinsValSer) | |
| X | g.32343214C>A | CA412665992 | DMD | c.505G>T (p.Asp169Tyr) c.5659G>T (p.Asp1887Tyr) c.1627G>T (p.Asp543Tyr) c.5647G>T (p.Asp1883Tyr) n.336-126151G>T c.316G>T (p.Asp106Tyr) c.5635G>T (p.Asp1879Tyr) c.5290G>T (p.Asp1764Tyr) c.1636G>T (p.Asp546Tyr) c.5530G>T (p.Asp1844Tyr) c.5521G>T (p.Asp1841Tyr) c.5536G>T (p.Asp1846Tyr) | |
| X | g.32343214C= | CA2422760811 | DMD | c.505G= (p.Asp169=) c.5659G= (p.Asp1887=) c.1627G= (p.Asp543=) c.5647G= (p.Asp1883=) n.336-126151G= c.316G= (p.Asp106=) c.5635G= (p.Asp1879=) c.5290G= (p.Asp1764=) c.1636G= (p.Asp546=) c.5530G= (p.Asp1844=) c.5521G= (p.Asp1841=) c.5536G= (p.Asp1846=) | |
| X | g.32343214C>G | CA412665995 | DMD | c.505G>C (p.Asp169His) c.5659G>C (p.Asp1887His) c.1627G>C (p.Asp543His) c.5647G>C (p.Asp1883His) n.336-126151G>C c.316G>C (p.Asp106His) c.5635G>C (p.Asp1879His) c.5290G>C (p.Asp1764His) c.1636G>C (p.Asp546His) c.5530G>C (p.Asp1844His) c.5521G>C (p.Asp1841His) c.5536G>C (p.Asp1846His) | |
| X | g.32343214C>T | CA412665998 | DMD | c.505G>A (p.Asp169Asn) c.5659G>A (p.Asp1887Asn) c.1627G>A (p.Asp543Asn) c.5647G>A (p.Asp1883Asn) n.336-126151G>A c.316G>A (p.Asp106Asn) c.5635G>A (p.Asp1879Asn) c.5290G>A (p.Asp1764Asn) c.1636G>A (p.Asp546Asn) c.5530G>A (p.Asp1844Asn) c.5521G>A (p.Asp1841Asn) c.5536G>A (p.Asp1846Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.32343215A= | CA2422760812 | DMD | c.504T= (p.Ala168=) c.5658T= (p.Ala1886=) c.1626T= (p.Ala542=) c.5646T= (p.Ala1882=) n.336-126152T= c.315T= (p.Ala105=) c.5634T= (p.Ala1878=) c.5289T= (p.Ala1763=) c.1635T= (p.Ala545=) c.5529T= (p.Ala1843=) c.5520T= (p.Ala1840=) c.5535T= (p.Ala1845=) |