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.32310085C>A | CA515863183 | DMD | c.960G>T (p.Leu320=) c.6114G>T (p.Leu2038=) c.2082G>T (p.Leu694=) c.6102G>T (p.Leu2034=) n.336-93022G>T c.6090G>T (p.Leu2030=) c.5745G>T (p.Leu1915=) c.2091G>T (p.Leu697=) c.5985G>T (p.Leu1995=) c.5976G>T (p.Leu1992=) c.5991G>T (p.Leu1997=) c.288G>T (p.Leu96=) | |
| X | g.32310085C= | CA2422745183 | DMD | c.960G= (p.Leu320=) c.6114G= (p.Leu2038=) c.2082G= (p.Leu694=) c.6102G= (p.Leu2034=) n.336-93022G= c.6090G= (p.Leu2030=) c.5745G= (p.Leu1915=) c.2091G= (p.Leu697=) c.5985G= (p.Leu1995=) c.5976G= (p.Leu1992=) c.5991G= (p.Leu1997=) c.288G= (p.Leu96=) | |
| X | g.32310085C>G | CA10378547 | DMD | c.960G>C (p.Leu320=) c.6114G>C (p.Leu2038=) c.2082G>C (p.Leu694=) c.6102G>C (p.Leu2034=) n.336-93022G>C c.6090G>C (p.Leu2030=) c.5745G>C (p.Leu1915=) c.2091G>C (p.Leu697=) c.5985G>C (p.Leu1995=) c.5976G>C (p.Leu1992=) c.5991G>C (p.Leu1997=) c.288G>C (p.Leu96=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32310085C>T | CA515863184 | DMD | c.960G>A (p.Leu320=) c.6114G>A (p.Leu2038=) c.2082G>A (p.Leu694=) c.6102G>A (p.Leu2034=) n.336-93022G>A c.6090G>A (p.Leu2030=) c.5745G>A (p.Leu1915=) c.2091G>A (p.Leu697=) c.5985G>A (p.Leu1995=) c.5976G>A (p.Leu1992=) c.5991G>A (p.Leu1997=) c.288G>A (p.Leu96=) | |
| X | g.32310086A>C | CA412669491 | DMD | c.959T>G (p.Leu320Arg) c.6113T>G (p.Leu2038Arg) c.2081T>G (p.Leu694Arg) c.6101T>G (p.Leu2034Arg) n.336-93023T>G c.6089T>G (p.Leu2030Arg) c.5744T>G (p.Leu1915Arg) c.2090T>G (p.Leu697Arg) c.5984T>G (p.Leu1995Arg) c.5975T>G (p.Leu1992Arg) c.5990T>G (p.Leu1997Arg) c.287T>G (p.Leu96Arg) | |
| X | g.32310086A>G | CA412669493 | DMD | c.959T>C (p.Leu320Pro) c.6113T>C (p.Leu2038Pro) c.2081T>C (p.Leu694Pro) c.6101T>C (p.Leu2034Pro) n.336-93023T>C c.6089T>C (p.Leu2030Pro) c.5744T>C (p.Leu1915Pro) c.2090T>C (p.Leu697Pro) c.5984T>C (p.Leu1995Pro) c.5975T>C (p.Leu1992Pro) c.5990T>C (p.Leu1997Pro) c.287T>C (p.Leu96Pro) | |
| X | g.32310086A>T | CA412669495 | DMD | c.959T>A (p.Leu320Gln) c.6113T>A (p.Leu2038Gln) c.2081T>A (p.Leu694Gln) c.6101T>A (p.Leu2034Gln) n.336-93023T>A c.6089T>A (p.Leu2030Gln) c.5744T>A (p.Leu1915Gln) c.2090T>A (p.Leu697Gln) c.5984T>A (p.Leu1995Gln) c.5975T>A (p.Leu1992Gln) c.5990T>A (p.Leu1997Gln) c.287T>A (p.Leu96Gln) | |
| X | g.32310087G>A | CA515863185 | DMD | c.958C>T (p.Leu320=) c.6112C>T (p.Leu2038=) c.2080C>T (p.Leu694=) c.6100C>T (p.Leu2034=) n.336-93024C>T c.6088C>T (p.Leu2030=) c.5743C>T (p.Leu1915=) c.2089C>T (p.Leu697=) c.5983C>T (p.Leu1995=) c.5974C>T (p.Leu1992=) c.5989C>T (p.Leu1997=) c.286C>T (p.Leu96=) | |
| X | g.32310087G>C | CA412669497 | DMD | c.958C>G (p.Leu320Val) c.6112C>G (p.Leu2038Val) c.2080C>G (p.Leu694Val) c.6100C>G (p.Leu2034Val) n.336-93024C>G c.6088C>G (p.Leu2030Val) c.5743C>G (p.Leu1915Val) c.2089C>G (p.Leu697Val) c.5983C>G (p.Leu1995Val) c.5974C>G (p.Leu1992Val) c.5989C>G (p.Leu1997Val) c.286C>G (p.Leu96Val) | |
| X | g.32310087G>T | CA412669498 | DMD | c.958C>A (p.Leu320Met) c.6112C>A (p.Leu2038Met) c.2080C>A (p.Leu694Met) c.6100C>A (p.Leu2034Met) n.336-93024C>A c.6088C>A (p.Leu2030Met) c.5743C>A (p.Leu1915Met) c.2089C>A (p.Leu697Met) c.5983C>A (p.Leu1995Met) c.5974C>A (p.Leu1992Met) c.5989C>A (p.Leu1997Met) c.286C>A (p.Leu96Met) | |
| X | g.32310088A>C | CA515863186 | DMD | c.957T>G (p.Ser319=) c.6111T>G (p.Ser2037=) c.2079T>G (p.Ser693=) c.6099T>G (p.Ser2033=) n.336-93025T>G c.6087T>G (p.Ser2029=) c.5742T>G (p.Ser1914=) c.2088T>G (p.Ser696=) c.5982T>G (p.Ser1994=) c.5973T>G (p.Ser1991=) c.5988T>G (p.Ser1996=) c.285T>G (p.Ser95=) | |
| X | g.32310088A>G | CA515863187 | DMD | c.957T>C (p.Ser319=) c.6111T>C (p.Ser2037=) c.2079T>C (p.Ser693=) c.6099T>C (p.Ser2033=) n.336-93025T>C c.6087T>C (p.Ser2029=) c.5742T>C (p.Ser1914=) c.2088T>C (p.Ser696=) c.5982T>C (p.Ser1994=) c.5973T>C (p.Ser1991=) c.5988T>C (p.Ser1996=) c.285T>C (p.Ser95=) | gnomAD v4 |
| X | g.32310088A>T | CA515863188 | DMD | c.957T>A (p.Ser319=) c.6111T>A (p.Ser2037=) c.2079T>A (p.Ser693=) c.6099T>A (p.Ser2033=) n.336-93025T>A c.6087T>A (p.Ser2029=) c.5742T>A (p.Ser1914=) c.2088T>A (p.Ser696=) c.5982T>A (p.Ser1994=) c.5973T>A (p.Ser1991=) c.5988T>A (p.Ser1996=) c.285T>A (p.Ser95=) | |
| X | g.32310089G>A | CA412669502 | DMD | c.956C>T (p.Ser319Phe) c.6110C>T (p.Ser2037Phe) c.2078C>T (p.Ser693Phe) c.6098C>T (p.Ser2033Phe) n.336-93026C>T c.6086C>T (p.Ser2029Phe) c.5741C>T (p.Ser1914Phe) c.2087C>T (p.Ser696Phe) c.5981C>T (p.Ser1994Phe) c.5972C>T (p.Ser1991Phe) c.5987C>T (p.Ser1996Phe) c.284C>T (p.Ser95Phe) | gnomAD v4 |
| X | g.32310089G>C | CA412669504 | DMD | c.956C>G (p.Ser319Cys) c.6110C>G (p.Ser2037Cys) c.2078C>G (p.Ser693Cys) c.6098C>G (p.Ser2033Cys) n.336-93026C>G c.6086C>G (p.Ser2029Cys) c.5741C>G (p.Ser1914Cys) c.2087C>G (p.Ser696Cys) c.5981C>G (p.Ser1994Cys) c.5972C>G (p.Ser1991Cys) c.5987C>G (p.Ser1996Cys) c.284C>G (p.Ser95Cys) | |
| X | g.32310089G>T | CA412669507 | DMD | c.956C>A (p.Ser319Tyr) c.6110C>A (p.Ser2037Tyr) c.2078C>A (p.Ser693Tyr) c.6098C>A (p.Ser2033Tyr) n.336-93026C>A c.6086C>A (p.Ser2029Tyr) c.5741C>A (p.Ser1914Tyr) c.2087C>A (p.Ser696Tyr) c.5981C>A (p.Ser1994Tyr) c.5972C>A (p.Ser1991Tyr) c.5987C>A (p.Ser1996Tyr) c.284C>A (p.Ser95Tyr) | |
| X | g.32310090A>C | CA412669510 | DMD | c.955T>G (p.Ser319Ala) c.6109T>G (p.Ser2037Ala) c.2077T>G (p.Ser693Ala) c.6097T>G (p.Ser2033Ala) n.336-93027T>G c.6085T>G (p.Ser2029Ala) c.5740T>G (p.Ser1914Ala) c.2086T>G (p.Ser696Ala) c.5980T>G (p.Ser1994Ala) c.5971T>G (p.Ser1991Ala) c.5986T>G (p.Ser1996Ala) c.283T>G (p.Ser95Ala) | gnomAD v4 |
| X | g.32310090A>G | CA412669512 | DMD | c.955T>C (p.Ser319Pro) c.6109T>C (p.Ser2037Pro) c.2077T>C (p.Ser693Pro) c.6097T>C (p.Ser2033Pro) n.336-93027T>C c.6085T>C (p.Ser2029Pro) c.5740T>C (p.Ser1914Pro) c.2086T>C (p.Ser696Pro) c.5980T>C (p.Ser1994Pro) c.5971T>C (p.Ser1991Pro) c.5986T>C (p.Ser1996Pro) c.283T>C (p.Ser95Pro) | |
| X | g.32310090A>T | CA412669513 | DMD | c.955T>A (p.Ser319Thr) c.6109T>A (p.Ser2037Thr) c.2077T>A (p.Ser693Thr) c.6097T>A (p.Ser2033Thr) n.336-93027T>A c.6085T>A (p.Ser2029Thr) c.5740T>A (p.Ser1914Thr) c.2086T>A (p.Ser696Thr) c.5980T>A (p.Ser1994Thr) c.5971T>A (p.Ser1991Thr) c.5986T>A (p.Ser1996Thr) c.283T>A (p.Ser95Thr) | |
| X | g.32310091C>A | CA412669516 | DMD | c.954G>T (p.Glu318Asp) c.6108G>T (p.Glu2036Asp) c.2076G>T (p.Glu692Asp) c.6096G>T (p.Glu2032Asp) n.336-93028G>T c.6084G>T (p.Glu2028Asp) c.5739G>T (p.Glu1913Asp) c.2085G>T (p.Glu695Asp) c.5979G>T (p.Glu1993Asp) c.5970G>T (p.Glu1990Asp) c.5985G>T (p.Glu1995Asp) c.282G>T (p.Glu94Asp) | |
| X | g.32310091C>G | CA412669519 | DMD | c.954G>C (p.Glu318Asp) c.6108G>C (p.Glu2036Asp) c.2076G>C (p.Glu692Asp) c.6096G>C (p.Glu2032Asp) n.336-93028G>C c.6084G>C (p.Glu2028Asp) c.5739G>C (p.Glu1913Asp) c.2085G>C (p.Glu695Asp) c.5979G>C (p.Glu1993Asp) c.5970G>C (p.Glu1990Asp) c.5985G>C (p.Glu1995Asp) c.282G>C (p.Glu94Asp) | |
| X | g.32310091C>T | CA515863189 | DMD | c.954G>A (p.Glu318=) c.6108G>A (p.Glu2036=) c.2076G>A (p.Glu692=) c.6096G>A (p.Glu2032=) n.336-93028G>A c.6084G>A (p.Glu2028=) c.5739G>A (p.Glu1913=) c.2085G>A (p.Glu695=) c.5979G>A (p.Glu1993=) c.5970G>A (p.Glu1990=) c.5985G>A (p.Glu1995=) c.282G>A (p.Glu94=) | |
| X | g.32310092T>A | CA412669522 | DMD | c.953A>T (p.Glu318Val) c.6107A>T (p.Glu2036Val) c.2075A>T (p.Glu692Val) c.6095A>T (p.Glu2032Val) n.336-93029A>T c.6083A>T (p.Glu2028Val) c.5738A>T (p.Glu1913Val) c.2084A>T (p.Glu695Val) c.5978A>T (p.Glu1993Val) c.5969A>T (p.Glu1990Val) c.5984A>T (p.Glu1995Val) c.281A>T (p.Glu94Val) | |
| X | g.32310092T>C | CA412669525 | DMD | c.953A>G (p.Glu318Gly) c.6107A>G (p.Glu2036Gly) c.2075A>G (p.Glu692Gly) c.6095A>G (p.Glu2032Gly) n.336-93029A>G c.6083A>G (p.Glu2028Gly) c.5738A>G (p.Glu1913Gly) c.2084A>G (p.Glu695Gly) c.5978A>G (p.Glu1993Gly) c.5969A>G (p.Glu1990Gly) c.5984A>G (p.Glu1995Gly) c.281A>G (p.Glu94Gly) | |
| X | g.32310092T>G | CA412669527 | DMD | c.953A>C (p.Glu318Ala) c.6107A>C (p.Glu2036Ala) c.2075A>C (p.Glu692Ala) c.6095A>C (p.Glu2032Ala) n.336-93029A>C c.6083A>C (p.Glu2028Ala) c.5738A>C (p.Glu1913Ala) c.2084A>C (p.Glu695Ala) c.5978A>C (p.Glu1993Ala) c.5969A>C (p.Glu1990Ala) c.5984A>C (p.Glu1995Ala) c.281A>C (p.Glu94Ala) | |
| X | g.32310093C>A | CA412669530 | DMD | c.952G>T (p.Glu318Ter) c.6106G>T (p.Glu2036Ter) c.2074G>T (p.Glu692Ter) c.6094G>T (p.Glu2032Ter) n.336-93030G>T c.6082G>T (p.Glu2028Ter) c.5737G>T (p.Glu1913Ter) c.2083G>T (p.Glu695Ter) c.5977G>T (p.Glu1993Ter) c.5968G>T (p.Glu1990Ter) c.5983G>T (p.Glu1995Ter) c.280G>T (p.Glu94Ter) | dbSNP |
| X | g.32310093C>G | CA412669533 | DMD | c.952G>C (p.Glu318Gln) c.6106G>C (p.Glu2036Gln) c.2074G>C (p.Glu692Gln) c.6094G>C (p.Glu2032Gln) n.336-93030G>C c.6082G>C (p.Glu2028Gln) c.5737G>C (p.Glu1913Gln) c.2083G>C (p.Glu695Gln) c.5977G>C (p.Glu1993Gln) c.5968G>C (p.Glu1990Gln) c.5983G>C (p.Glu1995Gln) c.280G>C (p.Glu94Gln) | |
| X | g.32310093C>T | CA412669535 | DMD | c.952G>A (p.Glu318Lys) c.6106G>A (p.Glu2036Lys) c.2074G>A (p.Glu692Lys) c.6094G>A (p.Glu2032Lys) n.336-93030G>A c.6082G>A (p.Glu2028Lys) c.5737G>A (p.Glu1913Lys) c.2083G>A (p.Glu695Lys) c.5977G>A (p.Glu1993Lys) c.5968G>A (p.Glu1990Lys) c.5983G>A (p.Glu1995Lys) c.280G>A (p.Glu94Lys) | |
| X | g.32310094C>A | CA328532031 | DMD | c.951G>T (p.Glu317Asp) c.6105G>T (p.Glu2035Asp) c.2073G>T (p.Glu691Asp) c.6093G>T (p.Glu2031Asp) n.336-93031G>T c.6081G>T (p.Glu2027Asp) c.5736G>T (p.Glu1912Asp) c.2082G>T (p.Glu694Asp) c.5976G>T (p.Glu1992Asp) c.5967G>T (p.Glu1989Asp) c.5982G>T (p.Glu1994Asp) c.279G>T (p.Glu93Asp) | dbSNP gnomAD v4 |
| X | g.32310094C= | CA2422745184 | DMD | c.951G= (p.Glu317=) c.6105G= (p.Glu2035=) c.2073G= (p.Glu691=) c.6093G= (p.Glu2031=) n.336-93031G= c.6081G= (p.Glu2027=) c.5736G= (p.Glu1912=) c.2082G= (p.Glu694=) c.5976G= (p.Glu1992=) c.5967G= (p.Glu1989=) c.5982G= (p.Glu1994=) c.279G= (p.Glu93=) | |
| X | g.32310094C>G | CA412669539 | DMD | c.951G>C (p.Glu317Asp) c.6105G>C (p.Glu2035Asp) c.2073G>C (p.Glu691Asp) c.6093G>C (p.Glu2031Asp) n.336-93031G>C c.6081G>C (p.Glu2027Asp) c.5736G>C (p.Glu1912Asp) c.2082G>C (p.Glu694Asp) c.5976G>C (p.Glu1992Asp) c.5967G>C (p.Glu1989Asp) c.5982G>C (p.Glu1994Asp) c.279G>C (p.Glu93Asp) | |
| X | g.32310094C>T | CA515863190 | DMD | c.951G>A (p.Glu317=) c.6105G>A (p.Glu2035=) c.2073G>A (p.Glu691=) c.6093G>A (p.Glu2031=) n.336-93031G>A c.6081G>A (p.Glu2027=) c.5736G>A (p.Glu1912=) c.2082G>A (p.Glu694=) c.5976G>A (p.Glu1992=) c.5967G>A (p.Glu1989=) c.5982G>A (p.Glu1994=) c.279G>A (p.Glu93=) | ClinVar gnomAD v4 |
| X | g.32310095T>A | CA412669542 | DMD | c.950A>T (p.Glu317Val) c.6104A>T (p.Glu2035Val) c.2072A>T (p.Glu691Val) c.6092A>T (p.Glu2031Val) n.336-93032A>T c.6080A>T (p.Glu2027Val) c.5735A>T (p.Glu1912Val) c.2081A>T (p.Glu694Val) c.5975A>T (p.Glu1992Val) c.5966A>T (p.Glu1989Val) c.5981A>T (p.Glu1994Val) c.278A>T (p.Glu93Val) | |
| X | g.32310095T>C | CA412669544 | DMD | c.950A>G (p.Glu317Gly) c.6104A>G (p.Glu2035Gly) c.2072A>G (p.Glu691Gly) c.6092A>G (p.Glu2031Gly) n.336-93032A>G c.6080A>G (p.Glu2027Gly) c.5735A>G (p.Glu1912Gly) c.2081A>G (p.Glu694Gly) c.5975A>G (p.Glu1992Gly) c.5966A>G (p.Glu1989Gly) c.5981A>G (p.Glu1994Gly) c.278A>G (p.Glu93Gly) | |
| X | g.32310095T>G | CA412669547 | DMD | c.950A>C (p.Glu317Ala) c.6104A>C (p.Glu2035Ala) c.2072A>C (p.Glu691Ala) c.6092A>C (p.Glu2031Ala) n.336-93032A>C c.6080A>C (p.Glu2027Ala) c.5735A>C (p.Glu1912Ala) c.2081A>C (p.Glu694Ala) c.5975A>C (p.Glu1992Ala) c.5966A>C (p.Glu1989Ala) c.5981A>C (p.Glu1994Ala) c.278A>C (p.Glu93Ala) | |
| X | g.32310096C>A | CA412669552 | DMD | c.949G>T (p.Glu317Ter) c.6103G>T (p.Glu2035Ter) c.2071G>T (p.Glu691Ter) c.6091G>T (p.Glu2031Ter) n.336-93033G>T c.6079G>T (p.Glu2027Ter) c.5734G>T (p.Glu1912Ter) c.2080G>T (p.Glu694Ter) c.5974G>T (p.Glu1992Ter) c.5965G>T (p.Glu1989Ter) c.5980G>T (p.Glu1994Ter) c.277G>T (p.Glu93Ter) | dbSNP |
| X | g.32310096C>G | CA412669554 | DMD | c.949G>C (p.Glu317Gln) c.6103G>C (p.Glu2035Gln) c.2071G>C (p.Glu691Gln) c.6091G>C (p.Glu2031Gln) n.336-93033G>C c.6079G>C (p.Glu2027Gln) c.5734G>C (p.Glu1912Gln) c.2080G>C (p.Glu694Gln) c.5974G>C (p.Glu1992Gln) c.5965G>C (p.Glu1989Gln) c.5980G>C (p.Glu1994Gln) c.277G>C (p.Glu93Gln) | |
| X | g.32310096C>T | CA412669550 | DMD | c.949G>A (p.Glu317Lys) c.6103G>A (p.Glu2035Lys) c.2071G>A (p.Glu691Lys) c.6091G>A (p.Glu2031Lys) n.336-93033G>A c.6079G>A (p.Glu2027Lys) c.5734G>A (p.Glu1912Lys) c.2080G>A (p.Glu694Lys) c.5974G>A (p.Glu1992Lys) c.5965G>A (p.Glu1989Lys) c.5980G>A (p.Glu1994Lys) c.277G>A (p.Glu93Lys) | COSMIC COSMIC COSMIC COSMIC |
| X | g.32310097T>A | CA412669558 | DMD | c.948A>T (p.Gln316His) c.6102A>T (p.Gln2034His) c.2070A>T (p.Gln690His) c.6090A>T (p.Gln2030His) n.336-93034A>T c.6078A>T (p.Gln2026His) c.5733A>T (p.Gln1911His) c.2079A>T (p.Gln693His) c.5973A>T (p.Gln1991His) c.5964A>T (p.Gln1988His) c.5979A>T (p.Gln1993His) c.276A>T (p.Gln92His) | |
| X | g.32310097T>C | CA515863191 | DMD | c.948A>G (p.Gln316=) c.6102A>G (p.Gln2034=) c.2070A>G (p.Gln690=) c.6090A>G (p.Gln2030=) n.336-93034A>G c.6078A>G (p.Gln2026=) c.5733A>G (p.Gln1911=) c.2079A>G (p.Gln693=) c.5973A>G (p.Gln1991=) c.5964A>G (p.Gln1988=) c.5979A>G (p.Gln1993=) c.276A>G (p.Gln92=) | gnomAD v4 |
| X | g.32310097T>G | CA412669560 | DMD | c.948A>C (p.Gln316His) c.6102A>C (p.Gln2034His) c.2070A>C (p.Gln690His) c.6090A>C (p.Gln2030His) n.336-93034A>C c.6078A>C (p.Gln2026His) c.5733A>C (p.Gln1911His) c.2079A>C (p.Gln693His) c.5973A>C (p.Gln1991His) c.5964A>C (p.Gln1988His) c.5979A>C (p.Gln1993His) c.276A>C (p.Gln92His) | |
| X | g.32310098T>A | CA308361 | DMD | c.947A>T (p.Gln316Leu) c.6101A>T (p.Gln2034Leu) c.2069A>T (p.Gln690Leu) c.6089A>T (p.Gln2030Leu) n.336-93035A>T c.6077A>T (p.Gln2026Leu) c.5732A>T (p.Gln1911Leu) c.2078A>T (p.Gln693Leu) c.5972A>T (p.Gln1991Leu) c.5963A>T (p.Gln1988Leu) c.5978A>T (p.Gln1993Leu) c.275A>T (p.Gln92Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32310098T>C | CA412669565 | DMD | c.947A>G (p.Gln316Arg) c.6101A>G (p.Gln2034Arg) c.2069A>G (p.Gln690Arg) c.6089A>G (p.Gln2030Arg) n.336-93035A>G c.6077A>G (p.Gln2026Arg) c.5732A>G (p.Gln1911Arg) c.2078A>G (p.Gln693Arg) c.5972A>G (p.Gln1991Arg) c.5963A>G (p.Gln1988Arg) c.5978A>G (p.Gln1993Arg) c.275A>G (p.Gln92Arg) | |
| X | g.32310098T>G | CA222447 | DMD | c.947A>C (p.Gln316Pro) c.6101A>C (p.Gln2034Pro) c.2069A>C (p.Gln690Pro) c.6089A>C (p.Gln2030Pro) n.336-93035A>C c.6077A>C (p.Gln2026Pro) c.5732A>C (p.Gln1911Pro) c.2078A>C (p.Gln693Pro) c.5972A>C (p.Gln1991Pro) c.5963A>C (p.Gln1988Pro) c.5978A>C (p.Gln1993Pro) c.275A>C (p.Gln92Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.32310098T= | CA2422745185 | DMD | c.947A= (p.Gln316=) c.6101A= (p.Gln2034=) c.2069A= (p.Gln690=) c.6089A= (p.Gln2030=) n.336-93035A= c.6077A= (p.Gln2026=) c.5732A= (p.Gln1911=) c.2078A= (p.Gln693=) c.5972A= (p.Gln1991=) c.5963A= (p.Gln1988=) c.5978A= (p.Gln1993=) c.275A= (p.Gln92=) | |
| X | g.32310099del | CA2695233292 | DMD | c.946del (p.Gln316LysfsTer5) c.6100del (p.Gln2034LysfsTer5) c.2068del (p.Gln690LysfsTer5) c.6088del (p.Gln2030LysfsTer5) n.336-93036del c.6076del (p.Gln2026LysfsTer5) c.5731del (p.Gln1911LysfsTer5) c.2077del (p.Gln693LysfsTer5) c.5971del (p.Gln1991LysfsTer5) c.5962del (p.Gln1988LysfsTer5) c.5977del (p.Gln1993LysfsTer5) c.274del (p.Gln92LysfsTer5) | |
| X | g.32310099G>A | CA412669569 | DMD | c.946C>T (p.Gln316Ter) c.6100C>T (p.Gln2034Ter) c.2068C>T (p.Gln690Ter) c.6088C>T (p.Gln2030Ter) n.336-93036C>T c.6076C>T (p.Gln2026Ter) c.5731C>T (p.Gln1911Ter) c.2077C>T (p.Gln693Ter) c.5971C>T (p.Gln1991Ter) c.5962C>T (p.Gln1988Ter) c.5977C>T (p.Gln1993Ter) c.274C>T (p.Gln92Ter) | |
| X | g.32310099G>C | CA412669571 | DMD | c.946C>G (p.Gln316Glu) c.6100C>G (p.Gln2034Glu) c.2068C>G (p.Gln690Glu) c.6088C>G (p.Gln2030Glu) n.336-93036C>G c.6076C>G (p.Gln2026Glu) c.5731C>G (p.Gln1911Glu) c.2077C>G (p.Gln693Glu) c.5971C>G (p.Gln1991Glu) c.5962C>G (p.Gln1988Glu) c.5977C>G (p.Gln1993Glu) c.274C>G (p.Gln92Glu) | gnomAD v4 |
| X | g.32310099G>T | CA412669572 | DMD | c.946C>A (p.Gln316Lys) c.6100C>A (p.Gln2034Lys) c.2068C>A (p.Gln690Lys) c.6088C>A (p.Gln2030Lys) n.336-93036C>A c.6076C>A (p.Gln2026Lys) c.5731C>A (p.Gln1911Lys) c.2077C>A (p.Gln693Lys) c.5971C>A (p.Gln1991Lys) c.5962C>A (p.Gln1988Lys) c.5977C>A (p.Gln1993Lys) c.274C>A (p.Gln92Lys) | gnomAD v4 |
| X | g.32310099_32310100delinsAA | CA2739268173 | DMD | c.945_946delinsTT (p.Lys315AsnfsTer2) c.6099_6100delinsTT (p.Lys2033AsnfsTer2) c.2067_2068delinsTT (p.Lys689AsnfsTer2) c.6087_6088delinsTT (p.Lys2029AsnfsTer2) n.336-93037_336-93036delinsTT c.6075_6076delinsTT (p.Lys2025AsnfsTer2) c.5730_5731delinsTT (p.Lys1910AsnfsTer2) c.2076_2077delinsTT (p.Lys692AsnfsTer2) c.5970_5971delinsTT (p.Lys1990AsnfsTer2) c.5961_5962delinsTT (p.Lys1987AsnfsTer2) c.5976_5977delinsTT (p.Lys1992AsnfsTer2) c.273_274delinsTT (p.Lys91AsnfsTer2) | ClinVar |