WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32287593C>A | CA267101 | DMD | c.1072G>T (p.Glu358Ter) c.6226G>T (p.Glu2076Ter) c.2194G>T (p.Glu732Ter) c.6214G>T (p.Glu2072Ter) n.336-70530G>T c.6202G>T (p.Glu2068Ter) c.5857G>T (p.Glu1953Ter) c.2203G>T (p.Glu735Ter) c.6097G>T (p.Glu2033Ter) c.6088G>T (p.Glu2030Ter) c.6103G>T (p.Glu2035Ter) c.400G>T (p.Glu134Ter) | ClinVar dbSNP |
| X | g.32287593C= | CA2422736422 | DMD | c.1072G= (p.Glu358=) c.6226G= (p.Glu2076=) c.2194G= (p.Glu732=) c.6214G= (p.Glu2072=) n.336-70530G= c.6202G= (p.Glu2068=) c.5857G= (p.Glu1953=) c.2203G= (p.Glu735=) c.6097G= (p.Glu2033=) c.6088G= (p.Glu2030=) c.6103G= (p.Glu2035=) c.400G= (p.Glu134=) | |
| X | g.32287593C>G | CA412665926 | DMD | c.1072G>C (p.Glu358Gln) c.6226G>C (p.Glu2076Gln) c.2194G>C (p.Glu732Gln) c.6214G>C (p.Glu2072Gln) n.336-70530G>C c.6202G>C (p.Glu2068Gln) c.5857G>C (p.Glu1953Gln) c.2203G>C (p.Glu735Gln) c.6097G>C (p.Glu2033Gln) c.6088G>C (p.Glu2030Gln) c.6103G>C (p.Glu2035Gln) c.400G>C (p.Glu134Gln) | |
| X | g.32287593C>T | CA412665923 | DMD | c.1072G>A (p.Glu358Lys) c.6226G>A (p.Glu2076Lys) c.2194G>A (p.Glu732Lys) c.6214G>A (p.Glu2072Lys) n.336-70530G>A c.6202G>A (p.Glu2068Lys) c.5857G>A (p.Glu1953Lys) c.2203G>A (p.Glu735Lys) c.6097G>A (p.Glu2033Lys) c.6088G>A (p.Glu2030Lys) c.6103G>A (p.Glu2035Lys) c.400G>A (p.Glu134Lys) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.32287594C>A | CA412665929 | DMD | c.1071G>T (p.Gln357His) c.6225G>T (p.Gln2075His) c.2193G>T (p.Gln731His) c.6213G>T (p.Gln2071His) n.336-70531G>T c.6201G>T (p.Gln2067His) c.5856G>T (p.Gln1952His) c.2202G>T (p.Gln734His) c.6096G>T (p.Gln2032His) c.6087G>T (p.Gln2029His) c.6102G>T (p.Gln2034His) c.399G>T (p.Gln133His) | |
| X | g.32287594C= | CA2422736423 | DMD | c.1071G= (p.Gln357=) c.6225G= (p.Gln2075=) c.2193G= (p.Gln731=) c.6213G= (p.Gln2071=) n.336-70531G= c.6201G= (p.Gln2067=) c.5856G= (p.Gln1952=) c.2202G= (p.Gln734=) c.6096G= (p.Gln2032=) c.6087G= (p.Gln2029=) c.6102G= (p.Gln2034=) c.399G= (p.Gln133=) | |
| X | g.32287594C>G | CA412665933 | DMD | c.1071G>C (p.Gln357His) c.6225G>C (p.Gln2075His) c.2193G>C (p.Gln731His) c.6213G>C (p.Gln2071His) n.336-70531G>C c.6201G>C (p.Gln2067His) c.5856G>C (p.Gln1952His) c.2202G>C (p.Gln734His) c.6096G>C (p.Gln2032His) c.6087G>C (p.Gln2029His) c.6102G>C (p.Gln2034His) c.399G>C (p.Gln133His) | |
| X | g.32287594C>T | CA515860670 | DMD | c.1071G>A (p.Gln357=) c.6225G>A (p.Gln2075=) c.2193G>A (p.Gln731=) c.6213G>A (p.Gln2071=) n.336-70531G>A c.6201G>A (p.Gln2067=) c.5856G>A (p.Gln1952=) c.2202G>A (p.Gln734=) c.6096G>A (p.Gln2032=) c.6087G>A (p.Gln2029=) c.6102G>A (p.Gln2034=) c.399G>A (p.Gln133=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32287595T>A | CA412665935 | DMD | c.1070A>T (p.Gln357Leu) c.6224A>T (p.Gln2075Leu) c.2192A>T (p.Gln731Leu) c.6212A>T (p.Gln2071Leu) n.336-70532A>T c.6200A>T (p.Gln2067Leu) c.5855A>T (p.Gln1952Leu) c.2201A>T (p.Gln734Leu) c.6095A>T (p.Gln2032Leu) c.6086A>T (p.Gln2029Leu) c.6101A>T (p.Gln2034Leu) c.398A>T (p.Gln133Leu) | |
| X | g.32287595T>C | CA412665937 | DMD | c.1070A>G (p.Gln357Arg) c.6224A>G (p.Gln2075Arg) c.2192A>G (p.Gln731Arg) c.6212A>G (p.Gln2071Arg) n.336-70532A>G c.6200A>G (p.Gln2067Arg) c.5855A>G (p.Gln1952Arg) c.2201A>G (p.Gln734Arg) c.6095A>G (p.Gln2032Arg) c.6086A>G (p.Gln2029Arg) c.6101A>G (p.Gln2034Arg) c.398A>G (p.Gln133Arg) | dbSNP |
| X | g.32287595T>G | CA412665941 | DMD | c.1070A>C (p.Gln357Pro) c.6224A>C (p.Gln2075Pro) c.2192A>C (p.Gln731Pro) c.6212A>C (p.Gln2071Pro) n.336-70532A>C c.6200A>C (p.Gln2067Pro) c.5855A>C (p.Gln1952Pro) c.2201A>C (p.Gln734Pro) c.6095A>C (p.Gln2032Pro) c.6086A>C (p.Gln2029Pro) c.6101A>C (p.Gln2034Pro) c.398A>C (p.Gln133Pro) | |
| X | g.32287595T= | CA2422736424 | DMD | c.1070A= (p.Gln357=) c.6224A= (p.Gln2075=) c.2192A= (p.Gln731=) c.6212A= (p.Gln2071=) n.336-70532A= c.6200A= (p.Gln2067=) c.5855A= (p.Gln1952=) c.2201A= (p.Gln734=) c.6095A= (p.Gln2032=) c.6086A= (p.Gln2029=) c.6101A= (p.Gln2034=) c.398A= (p.Gln133=) | |
| X | g.32287596G>A | CA10605510 | DMD | c.1069C>T (p.Gln357Ter) c.6223C>T (p.Gln2075Ter) c.2191C>T (p.Gln731Ter) c.6211C>T (p.Gln2071Ter) n.336-70533C>T c.6199C>T (p.Gln2067Ter) c.5854C>T (p.Gln1952Ter) c.2200C>T (p.Gln734Ter) c.6094C>T (p.Gln2032Ter) c.6085C>T (p.Gln2029Ter) c.6100C>T (p.Gln2034Ter) c.397C>T (p.Gln133Ter) | ClinVar dbSNP |
| X | g.32287596G>C | CA412665945 | DMD | c.1069C>G (p.Gln357Glu) c.6223C>G (p.Gln2075Glu) c.2191C>G (p.Gln731Glu) c.6211C>G (p.Gln2071Glu) n.336-70533C>G c.6199C>G (p.Gln2067Glu) c.5854C>G (p.Gln1952Glu) c.2200C>G (p.Gln734Glu) c.6094C>G (p.Gln2032Glu) c.6085C>G (p.Gln2029Glu) c.6100C>G (p.Gln2034Glu) c.397C>G (p.Gln133Glu) | |
| X | g.32287596G= | CA2422736425 | DMD | c.1069C= (p.Gln357=) c.6223C= (p.Gln2075=) c.2191C= (p.Gln731=) c.6211C= (p.Gln2071=) n.336-70533C= c.6199C= (p.Gln2067=) c.5854C= (p.Gln1952=) c.2200C= (p.Gln734=) c.6094C= (p.Gln2032=) c.6085C= (p.Gln2029=) c.6100C= (p.Gln2034=) c.397C= (p.Gln133=) | |
| X | g.32287596G>T | CA412665948 | DMD | c.1069C>A (p.Gln357Lys) c.6223C>A (p.Gln2075Lys) c.2191C>A (p.Gln731Lys) c.6211C>A (p.Gln2071Lys) n.336-70533C>A c.6199C>A (p.Gln2067Lys) c.5854C>A (p.Gln1952Lys) c.2200C>A (p.Gln734Lys) c.6094C>A (p.Gln2032Lys) c.6085C>A (p.Gln2029Lys) c.6100C>A (p.Gln2034Lys) c.397C>A (p.Gln133Lys) | |
| X | g.32287597del | CA2579579364 | DMD | c.1068del (p.Gln357ArgfsTer?) c.6222del (p.Gln2075ArgfsTer?) c.2190del (p.Gln731ArgfsTer?) c.6210del (p.Gln2071ArgfsTer?) n.336-70534del c.6198del (p.Gln2067ArgfsTer?) c.5853del (p.Gln1952ArgfsTer?) c.2199del (p.Gln734ArgfsTer?) c.6093del (p.Gln2032ArgfsTer?) c.6084del (p.Gln2029ArgfsTer?) c.6099del (p.Gln2034ArgfsTer?) c.396del (p.Gln133ArgfsTer?) | |
| X | g.32287597T>A | CA515860675 | DMD | c.1068A>T (p.Leu356=) c.6222A>T (p.Leu2074=) c.2190A>T (p.Leu730=) c.6210A>T (p.Leu2070=) n.336-70534A>T c.6198A>T (p.Leu2066=) c.5853A>T (p.Leu1951=) c.2199A>T (p.Leu733=) c.6093A>T (p.Leu2031=) c.6084A>T (p.Leu2028=) c.6099A>T (p.Leu2033=) c.396A>T (p.Leu132=) | |
| X | g.32287597T>C | CA515860679 | DMD | c.1068A>G (p.Leu356=) c.6222A>G (p.Leu2074=) c.2190A>G (p.Leu730=) c.6210A>G (p.Leu2070=) n.336-70534A>G c.6198A>G (p.Leu2066=) c.5853A>G (p.Leu1951=) c.2199A>G (p.Leu733=) c.6093A>G (p.Leu2031=) c.6084A>G (p.Leu2028=) c.6099A>G (p.Leu2033=) c.396A>G (p.Leu132=) | ClinVar dbSNP |
| X | g.32287597T>G | CA515860677 | DMD | c.1068A>C (p.Leu356=) c.6222A>C (p.Leu2074=) c.2190A>C (p.Leu730=) c.6210A>C (p.Leu2070=) n.336-70534A>C c.6198A>C (p.Leu2066=) c.5853A>C (p.Leu1951=) c.2199A>C (p.Leu733=) c.6093A>C (p.Leu2031=) c.6084A>C (p.Leu2028=) c.6099A>C (p.Leu2033=) c.396A>C (p.Leu132=) | |
| X | g.32287598A>C | CA412665955 | DMD | c.1067T>G (p.Leu356Arg) c.6221T>G (p.Leu2074Arg) c.2189T>G (p.Leu730Arg) c.6209T>G (p.Leu2070Arg) n.336-70535T>G c.6197T>G (p.Leu2066Arg) c.5852T>G (p.Leu1951Arg) c.2198T>G (p.Leu733Arg) c.6092T>G (p.Leu2031Arg) c.6083T>G (p.Leu2028Arg) c.6098T>G (p.Leu2033Arg) c.395T>G (p.Leu132Arg) | |
| X | g.32287598A>G | CA412665958 | DMD | c.1067T>C (p.Leu356Pro) c.6221T>C (p.Leu2074Pro) c.2189T>C (p.Leu730Pro) c.6209T>C (p.Leu2070Pro) n.336-70535T>C c.6197T>C (p.Leu2066Pro) c.5852T>C (p.Leu1951Pro) c.2198T>C (p.Leu733Pro) c.6092T>C (p.Leu2031Pro) c.6083T>C (p.Leu2028Pro) c.6098T>C (p.Leu2033Pro) c.395T>C (p.Leu132Pro) | |
| X | g.32287598A>T | CA412665961 | DMD | c.1067T>A (p.Leu356Gln) c.6221T>A (p.Leu2074Gln) c.2189T>A (p.Leu730Gln) c.6209T>A (p.Leu2070Gln) n.336-70535T>A c.6197T>A (p.Leu2066Gln) c.5852T>A (p.Leu1951Gln) c.2198T>A (p.Leu733Gln) c.6092T>A (p.Leu2031Gln) c.6083T>A (p.Leu2028Gln) c.6098T>A (p.Leu2033Gln) c.395T>A (p.Leu132Gln) | |
| X | g.32287599G>A | CA515860683 | DMD | c.1066C>T (p.Leu356=) c.6220C>T (p.Leu2074=) c.2188C>T (p.Leu730=) c.6208C>T (p.Leu2070=) n.336-70536C>T c.6196C>T (p.Leu2066=) c.5851C>T (p.Leu1951=) c.2197C>T (p.Leu733=) c.6091C>T (p.Leu2031=) c.6082C>T (p.Leu2028=) c.6097C>T (p.Leu2033=) c.394C>T (p.Leu132=) | |
| X | g.32287599G>C | CA412665962 | DMD | c.1066C>G (p.Leu356Val) c.6220C>G (p.Leu2074Val) c.2188C>G (p.Leu730Val) c.6208C>G (p.Leu2070Val) n.336-70536C>G c.6196C>G (p.Leu2066Val) c.5851C>G (p.Leu1951Val) c.2197C>G (p.Leu733Val) c.6091C>G (p.Leu2031Val) c.6082C>G (p.Leu2028Val) c.6097C>G (p.Leu2033Val) c.394C>G (p.Leu132Val) | |
| X | g.32287599G>T | CA412665966 | DMD | c.1066C>A (p.Leu356Ile) c.6220C>A (p.Leu2074Ile) c.2188C>A (p.Leu730Ile) c.6208C>A (p.Leu2070Ile) n.336-70536C>A c.6196C>A (p.Leu2066Ile) c.5851C>A (p.Leu1951Ile) c.2197C>A (p.Leu733Ile) c.6091C>A (p.Leu2031Ile) c.6082C>A (p.Leu2028Ile) c.6097C>A (p.Leu2033Ile) c.394C>A (p.Leu132Ile) | ClinVar |
| X | g.32287600C>A | CA412665968 | DMD | c.1065G>T (p.Lys355Asn) c.6219G>T (p.Lys2073Asn) c.2187G>T (p.Lys729Asn) c.6207G>T (p.Lys2069Asn) n.336-70537G>T c.6195G>T (p.Lys2065Asn) c.5850G>T (p.Lys1950Asn) c.2196G>T (p.Lys732Asn) c.6090G>T (p.Lys2030Asn) c.6081G>T (p.Lys2027Asn) c.6096G>T (p.Lys2032Asn) c.393G>T (p.Lys131Asn) | |
| X | g.32287600C>G | CA412665972 | DMD | c.1065G>C (p.Lys355Asn) c.6219G>C (p.Lys2073Asn) c.2187G>C (p.Lys729Asn) c.6207G>C (p.Lys2069Asn) n.336-70537G>C c.6195G>C (p.Lys2065Asn) c.5850G>C (p.Lys1950Asn) c.2196G>C (p.Lys732Asn) c.6090G>C (p.Lys2030Asn) c.6081G>C (p.Lys2027Asn) c.6096G>C (p.Lys2032Asn) c.393G>C (p.Lys131Asn) | |
| X | g.32287600C>T | CA515860686 | DMD | c.1065G>A (p.Lys355=) c.6219G>A (p.Lys2073=) c.2187G>A (p.Lys729=) c.6207G>A (p.Lys2069=) n.336-70537G>A c.6195G>A (p.Lys2065=) c.5850G>A (p.Lys1950=) c.2196G>A (p.Lys732=) c.6090G>A (p.Lys2030=) c.6081G>A (p.Lys2027=) c.6096G>A (p.Lys2032=) c.393G>A (p.Lys131=) | |
| X | g.32287603_32287609del | CA2573158660 | DMD | c.1059_1065del (p.Arg353SerfsTer?) c.6213_6219del (p.Arg2071SerfsTer?) c.2181_2187del (p.Arg727SerfsTer?) c.6201_6207del (p.Arg2067SerfsTer?) n.336-70543_336-70537del c.6189_6195del (p.Arg2063SerfsTer?) c.5844_5850del (p.Arg1948SerfsTer?) c.2190_2196del (p.Arg730SerfsTer?) c.6084_6090del (p.Arg2028SerfsTer?) c.6075_6081del (p.Arg2025SerfsTer?) c.6090_6096del (p.Arg2030SerfsTer?) c.387_393del (p.Arg129SerfsTer?) | ClinVar dbSNP |
| X | g.32287601T>A | CA412665975 | DMD | c.1064A>T (p.Lys355Met) c.6218A>T (p.Lys2073Met) c.2186A>T (p.Lys729Met) c.6206A>T (p.Lys2069Met) n.336-70538A>T c.6194A>T (p.Lys2065Met) c.5849A>T (p.Lys1950Met) c.2195A>T (p.Lys732Met) c.6089A>T (p.Lys2030Met) c.6080A>T (p.Lys2027Met) c.6095A>T (p.Lys2032Met) c.392A>T (p.Lys131Met) | |
| X | g.32287601T>C | CA412665983 | DMD | c.1064A>G (p.Lys355Arg) c.6218A>G (p.Lys2073Arg) c.2186A>G (p.Lys729Arg) c.6206A>G (p.Lys2069Arg) n.336-70538A>G c.6194A>G (p.Lys2065Arg) c.5849A>G (p.Lys1950Arg) c.2195A>G (p.Lys732Arg) c.6089A>G (p.Lys2030Arg) c.6080A>G (p.Lys2027Arg) c.6095A>G (p.Lys2032Arg) c.392A>G (p.Lys131Arg) | |
| X | g.32287601T>G | CA412665978 | DMD | c.1064A>C (p.Lys355Thr) c.6218A>C (p.Lys2073Thr) c.2186A>C (p.Lys729Thr) c.6206A>C (p.Lys2069Thr) n.336-70538A>C c.6194A>C (p.Lys2065Thr) c.5849A>C (p.Lys1950Thr) c.2195A>C (p.Lys732Thr) c.6089A>C (p.Lys2030Thr) c.6080A>C (p.Lys2027Thr) c.6095A>C (p.Lys2032Thr) c.392A>C (p.Lys131Thr) | |
| X | g.32287602T>A | CA412665986 | DMD | c.1063A>T (p.Lys355Ter) c.6217A>T (p.Lys2073Ter) c.2185A>T (p.Lys729Ter) c.6205A>T (p.Lys2069Ter) n.336-70539A>T c.6193A>T (p.Lys2065Ter) c.5848A>T (p.Lys1950Ter) c.2194A>T (p.Lys732Ter) c.6088A>T (p.Lys2030Ter) c.6079A>T (p.Lys2027Ter) c.6094A>T (p.Lys2032Ter) c.391A>T (p.Lys131Ter) | ClinVar dbSNP |
| X | g.32287602T>C | CA10378510 | DMD | c.1063A>G (p.Lys355Glu) c.6217A>G (p.Lys2073Glu) c.2185A>G (p.Lys729Glu) c.6205A>G (p.Lys2069Glu) n.336-70539A>G c.6193A>G (p.Lys2065Glu) c.5848A>G (p.Lys1950Glu) c.2194A>G (p.Lys732Glu) c.6088A>G (p.Lys2030Glu) c.6079A>G (p.Lys2027Glu) c.6094A>G (p.Lys2032Glu) c.391A>G (p.Lys131Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32287602T>G | CA412665987 | DMD | c.1063A>C (p.Lys355Gln) c.6217A>C (p.Lys2073Gln) c.2185A>C (p.Lys729Gln) c.6205A>C (p.Lys2069Gln) n.336-70539A>C c.6193A>C (p.Lys2065Gln) c.5848A>C (p.Lys1950Gln) c.2194A>C (p.Lys732Gln) c.6088A>C (p.Lys2030Gln) c.6079A>C (p.Lys2027Gln) c.6094A>C (p.Lys2032Gln) c.391A>C (p.Lys131Gln) | |
| X | g.32287602T= | CA2422736426 | DMD | c.1063A= (p.Lys355=) c.6217A= (p.Lys2073=) c.2185A= (p.Lys729=) c.6205A= (p.Lys2069=) n.336-70539A= c.6193A= (p.Lys2065=) c.5848A= (p.Lys1950=) c.2194A= (p.Lys732=) c.6088A= (p.Lys2030=) c.6079A= (p.Lys2027=) c.6094A= (p.Lys2032=) c.391A= (p.Lys131=) | |
| X | g.32287603C>A | CA515860692 | DMD | c.1062G>T (p.Val354=) c.6216G>T (p.Val2072=) c.2184G>T (p.Val728=) c.6204G>T (p.Val2068=) n.336-70540G>T c.6192G>T (p.Val2064=) c.5847G>T (p.Val1949=) c.2193G>T (p.Val731=) c.6087G>T (p.Val2029=) c.6078G>T (p.Val2026=) c.6093G>T (p.Val2031=) c.390G>T (p.Val130=) | |
| X | g.32287603C= | CA2422736427 | DMD | c.1062G= (p.Val354=) c.6216G= (p.Val2072=) c.2184G= (p.Val728=) c.6204G= (p.Val2068=) n.336-70540G= c.6192G= (p.Val2064=) c.5847G= (p.Val1949=) c.2193G= (p.Val731=) c.6087G= (p.Val2029=) c.6078G= (p.Val2026=) c.6093G= (p.Val2031=) c.390G= (p.Val130=) | |
| X | g.32287603C>G | CA515860694 | DMD | c.1062G>C (p.Val354=) c.6216G>C (p.Val2072=) c.2184G>C (p.Val728=) c.6204G>C (p.Val2068=) n.336-70540G>C c.6192G>C (p.Val2064=) c.5847G>C (p.Val1949=) c.2193G>C (p.Val731=) c.6087G>C (p.Val2029=) c.6078G>C (p.Val2026=) c.6093G>C (p.Val2031=) c.390G>C (p.Val130=) | |
| X | g.32287603C>T | CA10378511 | DMD | c.1062G>A (p.Val354=) c.6216G>A (p.Val2072=) c.2184G>A (p.Val728=) c.6204G>A (p.Val2068=) n.336-70540G>A c.6192G>A (p.Val2064=) c.5847G>A (p.Val1949=) c.2193G>A (p.Val731=) c.6087G>A (p.Val2029=) c.6078G>A (p.Val2026=) c.6093G>A (p.Val2031=) c.390G>A (p.Val130=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.32287604A>C | CA412665994 | DMD | c.1061T>G (p.Val354Gly) c.6215T>G (p.Val2072Gly) c.2183T>G (p.Val728Gly) c.6203T>G (p.Val2068Gly) n.336-70541T>G c.6191T>G (p.Val2064Gly) c.5846T>G (p.Val1949Gly) c.2192T>G (p.Val731Gly) c.6086T>G (p.Val2029Gly) c.6077T>G (p.Val2026Gly) c.6092T>G (p.Val2031Gly) c.389T>G (p.Val130Gly) | |
| X | g.32287604A>G | CA412665997 | DMD | c.1061T>C (p.Val354Ala) c.6215T>C (p.Val2072Ala) c.2183T>C (p.Val728Ala) c.6203T>C (p.Val2068Ala) n.336-70541T>C c.6191T>C (p.Val2064Ala) c.5846T>C (p.Val1949Ala) c.2192T>C (p.Val731Ala) c.6086T>C (p.Val2029Ala) c.6077T>C (p.Val2026Ala) c.6092T>C (p.Val2031Ala) c.389T>C (p.Val130Ala) | gnomAD v4 |
| X | g.32287604A>T | CA412666000 | DMD | c.1061T>A (p.Val354Glu) c.6215T>A (p.Val2072Glu) c.2183T>A (p.Val728Glu) c.6203T>A (p.Val2068Glu) n.336-70541T>A c.6191T>A (p.Val2064Glu) c.5846T>A (p.Val1949Glu) c.2192T>A (p.Val731Glu) c.6086T>A (p.Val2029Glu) c.6077T>A (p.Val2026Glu) c.6092T>A (p.Val2031Glu) c.389T>A (p.Val130Glu) | gnomAD v4 |
| X | g.32287605C>A | CA412666006 | DMD | c.1060G>T (p.Val354Leu) c.6214G>T (p.Val2072Leu) c.2182G>T (p.Val728Leu) c.6202G>T (p.Val2068Leu) n.336-70542G>T c.6190G>T (p.Val2064Leu) c.5845G>T (p.Val1949Leu) c.2191G>T (p.Val731Leu) c.6085G>T (p.Val2029Leu) c.6076G>T (p.Val2026Leu) c.6091G>T (p.Val2031Leu) c.388G>T (p.Val130Leu) | |
| X | g.32287605C>G | CA412666008 | DMD | c.1060G>C (p.Val354Leu) c.6214G>C (p.Val2072Leu) c.2182G>C (p.Val728Leu) c.6202G>C (p.Val2068Leu) n.336-70542G>C c.6190G>C (p.Val2064Leu) c.5845G>C (p.Val1949Leu) c.2191G>C (p.Val731Leu) c.6085G>C (p.Val2029Leu) c.6076G>C (p.Val2026Leu) c.6091G>C (p.Val2031Leu) c.388G>C (p.Val130Leu) | |
| X | g.32287605C>T | CA412666011 | DMD | c.1060G>A (p.Val354Met) c.6214G>A (p.Val2072Met) c.2182G>A (p.Val728Met) c.6202G>A (p.Val2068Met) n.336-70542G>A c.6190G>A (p.Val2064Met) c.5845G>A (p.Val1949Met) c.2191G>A (p.Val731Met) c.6085G>A (p.Val2029Met) c.6076G>A (p.Val2026Met) c.6091G>A (p.Val2031Met) c.388G>A (p.Val130Met) | COSMIC |
| X | g.32287606C>A | CA412666014 | DMD | c.1059G>T (p.Arg353Ser) c.6213G>T (p.Arg2071Ser) c.2181G>T (p.Arg727Ser) c.6201G>T (p.Arg2067Ser) n.336-70543G>T c.6189G>T (p.Arg2063Ser) c.5844G>T (p.Arg1948Ser) c.2190G>T (p.Arg730Ser) c.6084G>T (p.Arg2028Ser) c.6075G>T (p.Arg2025Ser) c.6090G>T (p.Arg2030Ser) c.387G>T (p.Arg129Ser) | |
| X | g.32287606C= | CA2422736428 | DMD | c.1059G= (p.Arg353=) c.6213G= (p.Arg2071=) c.2181G= (p.Arg727=) c.6201G= (p.Arg2067=) n.336-70543G= c.6189G= (p.Arg2063=) c.5844G= (p.Arg1948=) c.2190G= (p.Arg730=) c.6084G= (p.Arg2028=) c.6075G= (p.Arg2025=) c.6090G= (p.Arg2030=) c.387G= (p.Arg129=) | |
| X | g.32287606C>G | CA412666017 | DMD | c.1059G>C (p.Arg353Ser) c.6213G>C (p.Arg2071Ser) c.2181G>C (p.Arg727Ser) c.6201G>C (p.Arg2067Ser) n.336-70543G>C c.6189G>C (p.Arg2063Ser) c.5844G>C (p.Arg1948Ser) c.2190G>C (p.Arg730Ser) c.6084G>C (p.Arg2028Ser) c.6075G>C (p.Arg2025Ser) c.6090G>C (p.Arg2030Ser) c.387G>C (p.Arg129Ser) |