Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.32287690_32287693del | CA347585 | DMD | c.974_977del (p.Asp325ValfsTer29) c.6128_6131del (p.Asp2043ValfsTer29) c.2096_2099del (p.Asp699ValfsTer29) c.6116_6119del (p.Asp2039ValfsTer29) n.336-70628_336-70625del c.6104_6107del (p.Asp2035ValfsTer29) c.5759_5762del (p.Asp1920ValfsTer29) c.2105_2108del (p.Asp702ValfsTer29) c.5999_6002del (p.Asp2000ValfsTer29) c.5990_5993del (p.Asp1997ValfsTer29) c.6005_6008del (p.Asp2002ValfsTer29) c.302_305del (p.Asp101ValfsTer29) | ClinVar dbSNP |
X | g.32287693T>A | CA412666626 | DMD | c.972A>T (p.Lys324Asn) c.6126A>T (p.Lys2042Asn) c.2094A>T (p.Lys698Asn) c.6114A>T (p.Lys2038Asn) n.336-70630A>T c.6102A>T (p.Lys2034Asn) c.5757A>T (p.Lys1919Asn) c.2103A>T (p.Lys701Asn) c.5997A>T (p.Lys1999Asn) c.5988A>T (p.Lys1996Asn) c.6003A>T (p.Lys2001Asn) c.300A>T (p.Lys100Asn) | |
X | g.32287693T>C | CA515860945 | DMD | c.972A>G (p.Lys324=) c.6126A>G (p.Lys2042=) c.2094A>G (p.Lys698=) c.6114A>G (p.Lys2038=) n.336-70630A>G c.6102A>G (p.Lys2034=) c.5757A>G (p.Lys1919=) c.2103A>G (p.Lys701=) c.5997A>G (p.Lys1999=) c.5988A>G (p.Lys1996=) c.6003A>G (p.Lys2001=) c.300A>G (p.Lys100=) | |
X | g.32287693T>G | CA412666632 | DMD | c.972A>C (p.Lys324Asn) c.6126A>C (p.Lys2042Asn) c.2094A>C (p.Lys698Asn) c.6114A>C (p.Lys2038Asn) n.336-70630A>C c.6102A>C (p.Lys2034Asn) c.5757A>C (p.Lys1919Asn) c.2103A>C (p.Lys701Asn) c.5997A>C (p.Lys1999Asn) c.5988A>C (p.Lys1996Asn) c.6003A>C (p.Lys2001Asn) c.300A>C (p.Lys100Asn) | |
X | g.32287696del | CA2579579367 | DMD | c.972del (p.Asp325IlefsTer?) c.6126del (p.Asp2043IlefsTer?) c.2094del (p.Asp699IlefsTer?) c.6114del (p.Asp2039IlefsTer?) n.336-70630del c.6102del (p.Asp2035IlefsTer?) c.5757del (p.Asp1920IlefsTer?) c.2103del (p.Asp702IlefsTer?) c.5997del (p.Asp2000IlefsTer?) c.5988del (p.Asp1997IlefsTer?) c.6003del (p.Asp2002IlefsTer?) c.300del (p.Asp101IlefsTer?) | gnomAD v4 |
X | g.32287694T>A | CA412666634 | DMD | c.971A>T (p.Lys324Ile) c.6125A>T (p.Lys2042Ile) c.2093A>T (p.Lys698Ile) c.6113A>T (p.Lys2038Ile) n.336-70631A>T c.6101A>T (p.Lys2034Ile) c.5756A>T (p.Lys1919Ile) c.2102A>T (p.Lys701Ile) c.5996A>T (p.Lys1999Ile) c.5987A>T (p.Lys1996Ile) c.6002A>T (p.Lys2001Ile) c.299A>T (p.Lys100Ile) | |
X | g.32287694T>C | CA412666637 | DMD | c.971A>G (p.Lys324Arg) c.6125A>G (p.Lys2042Arg) c.2093A>G (p.Lys698Arg) c.6113A>G (p.Lys2038Arg) n.336-70631A>G c.6101A>G (p.Lys2034Arg) c.5756A>G (p.Lys1919Arg) c.2102A>G (p.Lys701Arg) c.5996A>G (p.Lys1999Arg) c.5987A>G (p.Lys1996Arg) c.6002A>G (p.Lys2001Arg) c.299A>G (p.Lys100Arg) | |
X | g.32287694T>G | CA412666639 | DMD | c.971A>C (p.Lys324Thr) c.6125A>C (p.Lys2042Thr) c.2093A>C (p.Lys698Thr) c.6113A>C (p.Lys2038Thr) n.336-70631A>C c.6101A>C (p.Lys2034Thr) c.5756A>C (p.Lys1919Thr) c.2102A>C (p.Lys701Thr) c.5996A>C (p.Lys1999Thr) c.5987A>C (p.Lys1996Thr) c.6002A>C (p.Lys2001Thr) c.299A>C (p.Lys100Thr) | |
X | g.32287695T>A | CA412666642 | DMD | c.970A>T (p.Lys324Ter) c.6124A>T (p.Lys2042Ter) c.2092A>T (p.Lys698Ter) c.6112A>T (p.Lys2038Ter) n.336-70632A>T c.6100A>T (p.Lys2034Ter) c.5755A>T (p.Lys1919Ter) c.2101A>T (p.Lys701Ter) c.5995A>T (p.Lys1999Ter) c.5986A>T (p.Lys1996Ter) c.6001A>T (p.Lys2001Ter) c.298A>T (p.Lys100Ter) | ClinVar dbSNP |
X | g.32287695T>C | CA412666647 | DMD | c.970A>G (p.Lys324Glu) c.6124A>G (p.Lys2042Glu) c.2092A>G (p.Lys698Glu) c.6112A>G (p.Lys2038Glu) n.336-70632A>G c.6100A>G (p.Lys2034Glu) c.5755A>G (p.Lys1919Glu) c.2101A>G (p.Lys701Glu) c.5995A>G (p.Lys1999Glu) c.5986A>G (p.Lys1996Glu) c.6001A>G (p.Lys2001Glu) c.298A>G (p.Lys100Glu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.32287695T>G | CA412666649 | DMD | c.970A>C (p.Lys324Gln) c.6124A>C (p.Lys2042Gln) c.2092A>C (p.Lys698Gln) c.6112A>C (p.Lys2038Gln) n.336-70632A>C c.6100A>C (p.Lys2034Gln) c.5755A>C (p.Lys1919Gln) c.2101A>C (p.Lys701Gln) c.5995A>C (p.Lys1999Gln) c.5986A>C (p.Lys1996Gln) c.6001A>C (p.Lys2001Gln) c.298A>C (p.Lys100Gln) | |
X | g.32287695T= | CA2422736468 | DMD | c.970A= (p.Lys324=) c.6124A= (p.Lys2042=) c.2092A= (p.Lys698=) c.6112A= (p.Lys2038=) n.336-70632A= c.6100A= (p.Lys2034=) c.5755A= (p.Lys1919=) c.2101A= (p.Lys701=) c.5995A= (p.Lys1999=) c.5986A= (p.Lys1996=) c.6001A= (p.Lys2001=) c.298A= (p.Lys100=) | |
X | g.32287696T>A | CA515860954 | DMD | c.969A>T (p.Ile323=) c.6123A>T (p.Ile2041=) c.2091A>T (p.Ile697=) c.6111A>T (p.Ile2037=) n.336-70633A>T c.6099A>T (p.Ile2033=) c.5754A>T (p.Ile1918=) c.2100A>T (p.Ile700=) c.5994A>T (p.Ile1998=) c.5985A>T (p.Ile1995=) c.6000A>T (p.Ile2000=) c.297A>T (p.Ile99=) | |
X | g.32287696T>C | CA412666651 | DMD | c.969A>G (p.Ile323Met) c.6123A>G (p.Ile2041Met) c.2091A>G (p.Ile697Met) c.6111A>G (p.Ile2037Met) n.336-70633A>G c.6099A>G (p.Ile2033Met) c.5754A>G (p.Ile1918Met) c.2100A>G (p.Ile700Met) c.5994A>G (p.Ile1998Met) c.5985A>G (p.Ile1995Met) c.6000A>G (p.Ile2000Met) c.297A>G (p.Ile99Met) | |
X | g.32287696T>G | CA515860952 | DMD | c.969A>C (p.Ile323=) c.6123A>C (p.Ile2041=) c.2091A>C (p.Ile697=) c.6111A>C (p.Ile2037=) n.336-70633A>C c.6099A>C (p.Ile2033=) c.5754A>C (p.Ile1918=) c.2100A>C (p.Ile700=) c.5994A>C (p.Ile1998=) c.5985A>C (p.Ile1995=) c.6000A>C (p.Ile2000=) c.297A>C (p.Ile99=) | |
X | g.32287697A= | CA2422736469 | DMD | c.968T= (p.Ile323=) c.6122T= (p.Ile2041=) c.2090T= (p.Ile697=) c.6110T= (p.Ile2037=) n.336-70634T= c.6098T= (p.Ile2033=) c.5753T= (p.Ile1918=) c.2099T= (p.Ile700=) c.5993T= (p.Ile1998=) c.5984T= (p.Ile1995=) c.5999T= (p.Ile2000=) c.296T= (p.Ile99=) | |
X | g.32287697A>C | CA412666653 | DMD | c.968T>G (p.Ile323Arg) c.6122T>G (p.Ile2041Arg) c.2090T>G (p.Ile697Arg) c.6110T>G (p.Ile2037Arg) n.336-70634T>G c.6098T>G (p.Ile2033Arg) c.5753T>G (p.Ile1918Arg) c.2099T>G (p.Ile700Arg) c.5993T>G (p.Ile1998Arg) c.5984T>G (p.Ile1995Arg) c.5999T>G (p.Ile2000Arg) c.296T>G (p.Ile99Arg) | |
X | g.32287697A>G | CA10378528 | DMD | c.968T>C (p.Ile323Thr) c.6122T>C (p.Ile2041Thr) c.2090T>C (p.Ile697Thr) c.6110T>C (p.Ile2037Thr) n.336-70634T>C c.6098T>C (p.Ile2033Thr) c.5753T>C (p.Ile1918Thr) c.2099T>C (p.Ile700Thr) c.5993T>C (p.Ile1998Thr) c.5984T>C (p.Ile1995Thr) c.5999T>C (p.Ile2000Thr) c.296T>C (p.Ile99Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32287697A>T | CA412666656 | DMD | c.968T>A (p.Ile323Lys) c.6122T>A (p.Ile2041Lys) c.2090T>A (p.Ile697Lys) c.6110T>A (p.Ile2037Lys) n.336-70634T>A c.6098T>A (p.Ile2033Lys) c.5753T>A (p.Ile1918Lys) c.2099T>A (p.Ile700Lys) c.5993T>A (p.Ile1998Lys) c.5984T>A (p.Ile1995Lys) c.5999T>A (p.Ile2000Lys) c.296T>A (p.Ile99Lys) | |
X | g.32287698T>A | CA412666661 | DMD | c.967A>T (p.Ile323Leu) c.6121A>T (p.Ile2041Leu) c.2089A>T (p.Ile697Leu) c.6109A>T (p.Ile2037Leu) n.336-70635A>T c.6097A>T (p.Ile2033Leu) c.5752A>T (p.Ile1918Leu) c.2098A>T (p.Ile700Leu) c.5992A>T (p.Ile1998Leu) c.5983A>T (p.Ile1995Leu) c.5998A>T (p.Ile2000Leu) c.295A>T (p.Ile99Leu) | COSMIC COSMIC COSMIC COSMIC |
X | g.32287698T>C | CA412666658 | DMD | c.967A>G (p.Ile323Val) c.6121A>G (p.Ile2041Val) c.2089A>G (p.Ile697Val) c.6109A>G (p.Ile2037Val) n.336-70635A>G c.6097A>G (p.Ile2033Val) c.5752A>G (p.Ile1918Val) c.2098A>G (p.Ile700Val) c.5992A>G (p.Ile1998Val) c.5983A>G (p.Ile1995Val) c.5998A>G (p.Ile2000Val) c.295A>G (p.Ile99Val) | |
X | g.32287698T>G | CA412666660 | DMD | c.967A>C (p.Ile323Leu) c.6121A>C (p.Ile2041Leu) c.2089A>C (p.Ile697Leu) c.6109A>C (p.Ile2037Leu) n.336-70635A>C c.6097A>C (p.Ile2033Leu) c.5752A>C (p.Ile1918Leu) c.2098A>C (p.Ile700Leu) c.5992A>C (p.Ile1998Leu) c.5983A>C (p.Ile1995Leu) c.5998A>C (p.Ile2000Leu) c.295A>C (p.Ile99Leu) | |
X | g.32287699A= | CA2422736470 | DMD | c.966T= (p.Asn322=) c.6120T= (p.Asn2040=) c.2088T= (p.Asn696=) c.6108T= (p.Asn2036=) n.336-70636T= c.6096T= (p.Asn2032=) c.5751T= (p.Asn1917=) c.2097T= (p.Asn699=) c.5991T= (p.Asn1997=) c.5982T= (p.Asn1994=) c.5997T= (p.Asn1999=) c.294T= (p.Asn98=) | |
X | g.32287699A>C | CA412666662 | DMD | c.966T>G (p.Asn322Lys) c.6120T>G (p.Asn2040Lys) c.2088T>G (p.Asn696Lys) c.6108T>G (p.Asn2036Lys) n.336-70636T>G c.6096T>G (p.Asn2032Lys) c.5751T>G (p.Asn1917Lys) c.2097T>G (p.Asn699Lys) c.5991T>G (p.Asn1997Lys) c.5982T>G (p.Asn1994Lys) c.5997T>G (p.Asn1999Lys) c.294T>G (p.Asn98Lys) | |
X | g.32287699A>G | CA515860961 | DMD | c.966T>C (p.Asn322=) c.6120T>C (p.Asn2040=) c.2088T>C (p.Asn696=) c.6108T>C (p.Asn2036=) n.336-70636T>C c.6096T>C (p.Asn2032=) c.5751T>C (p.Asn1917=) c.2097T>C (p.Asn699=) c.5991T>C (p.Asn1997=) c.5982T>C (p.Asn1994=) c.5997T>C (p.Asn1999=) c.294T>C (p.Asn98=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.32287699A>T | CA412666664 | DMD | c.966T>A (p.Asn322Lys) c.6120T>A (p.Asn2040Lys) c.2088T>A (p.Asn696Lys) c.6108T>A (p.Asn2036Lys) n.336-70636T>A c.6096T>A (p.Asn2032Lys) c.5751T>A (p.Asn1917Lys) c.2097T>A (p.Asn699Lys) c.5991T>A (p.Asn1997Lys) c.5982T>A (p.Asn1994Lys) c.5997T>A (p.Asn1999Lys) c.294T>A (p.Asn98Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.32287700T>A | CA412666667 | DMD | c.965A>T (p.Asn322Ile) c.6119A>T (p.Asn2040Ile) c.2087A>T (p.Asn696Ile) c.6107A>T (p.Asn2036Ile) n.336-70637A>T c.6095A>T (p.Asn2032Ile) c.5750A>T (p.Asn1917Ile) c.2096A>T (p.Asn699Ile) c.5990A>T (p.Asn1997Ile) c.5981A>T (p.Asn1994Ile) c.5996A>T (p.Asn1999Ile) c.293A>T (p.Asn98Ile) | gnomAD v4 |
X | g.32287700T>C | CA412666668 | DMD | c.965A>G (p.Asn322Ser) c.6119A>G (p.Asn2040Ser) c.2087A>G (p.Asn696Ser) c.6107A>G (p.Asn2036Ser) n.336-70637A>G c.6095A>G (p.Asn2032Ser) c.5750A>G (p.Asn1917Ser) c.2096A>G (p.Asn699Ser) c.5990A>G (p.Asn1997Ser) c.5981A>G (p.Asn1994Ser) c.5996A>G (p.Asn1999Ser) c.293A>G (p.Asn98Ser) | |
X | g.32287700T>G | CA412666671 | DMD | c.965A>C (p.Asn322Thr) c.6119A>C (p.Asn2040Thr) c.2087A>C (p.Asn696Thr) c.6107A>C (p.Asn2036Thr) n.336-70637A>C c.6095A>C (p.Asn2032Thr) c.5750A>C (p.Asn1917Thr) c.2096A>C (p.Asn699Thr) c.5990A>C (p.Asn1997Thr) c.5981A>C (p.Asn1994Thr) c.5996A>C (p.Asn1999Thr) c.293A>C (p.Asn98Thr) | |
X | g.32287701T>A | CA412666674 | DMD | c.964A>T (p.Asn322Tyr) c.6118A>T (p.Asn2040Tyr) c.2086A>T (p.Asn696Tyr) c.6106A>T (p.Asn2036Tyr) n.336-70638A>T c.6094A>T (p.Asn2032Tyr) c.5749A>T (p.Asn1917Tyr) c.2095A>T (p.Asn699Tyr) c.5989A>T (p.Asn1997Tyr) c.5980A>T (p.Asn1994Tyr) c.5995A>T (p.Asn1999Tyr) c.292A>T (p.Asn98Tyr) | |
X | g.32287701T>C | CA412666675 | DMD | c.964A>G (p.Asn322Asp) c.6118A>G (p.Asn2040Asp) c.2086A>G (p.Asn696Asp) c.6106A>G (p.Asn2036Asp) n.336-70638A>G c.6094A>G (p.Asn2032Asp) c.5749A>G (p.Asn1917Asp) c.2095A>G (p.Asn699Asp) c.5989A>G (p.Asn1997Asp) c.5980A>G (p.Asn1994Asp) c.5995A>G (p.Asn1999Asp) c.292A>G (p.Asn98Asp) | |
X | g.32287701T>G | CA412666676 | DMD | c.964A>C (p.Asn322His) c.6118A>C (p.Asn2040His) c.2086A>C (p.Asn696His) c.6106A>C (p.Asn2036His) n.336-70638A>C c.6094A>C (p.Asn2032His) c.5749A>C (p.Asn1917His) c.2095A>C (p.Asn699His) c.5989A>C (p.Asn1997His) c.5980A>C (p.Asn1994His) c.5995A>C (p.Asn1999His) c.292A>C (p.Asn98His) | |
X | g.32287702_32287710del | CA2693406165 | DMD | c.964-8_964del c.6118-8_6118del c.2086-8_2086del c.6106-8_6106del n.336-70646_336-70638del c.6094-8_6094del c.5749-8_5749del c.2095-8_2095del c.5989-8_5989del c.5980-8_5980del c.5995-8_5995del c.292-8_292del | gnomAD v4 |
X | g.32287701_32287702insA | CA2693406166 | DMD | c.964-1_964insT (n.964-1_964insT) c.6118-1_6118insT (n.6118-1_6118insT) c.2086-1_2086insT (n.2086-1_2086insT) c.6106-1_6106insT (n.6106-1_6106insT) n.336-70639_336-70638insT c.6094-1_6094insT (n.6094-1_6094insT) c.5749-1_5749insT (n.5749-1_5749insT) c.2095-1_2095insT (n.2095-1_2095insT) c.5989-1_5989insT (n.5989-1_5989insT) c.5980-1_5980insT (n.5980-1_5980insT) c.5995-1_5995insT (n.5995-1_5995insT) c.292-1_292insT (n.292-1_292insT) | gnomAD v4 |
X | g.32287702C>A | CA412666677 | DMD | c.964-1G>T (n.964-1G>T) c.6118-1G>T (n.6118-1G>T) c.2086-1G>T (n.2086-1G>T) c.6106-1G>T (n.6106-1G>T) n.336-70639G>T c.6094-1G>T (n.6094-1G>T) c.5749-1G>T (n.5749-1G>T) c.2095-1G>T (n.2095-1G>T) c.5989-1G>T (n.5989-1G>T) c.5980-1G>T (n.5980-1G>T) c.5995-1G>T (n.5995-1G>T) c.292-1G>T (n.292-1G>T) | gnomAD v4 |
X | g.32287702C= | CA2422736471 | DMD | c.964-1G= (n.964-1G=) c.6118-1G= (n.6118-1G=) c.2086-1G= (n.2086-1G=) c.6106-1G= (n.6106-1G=) n.336-70639G= c.6094-1G= (n.6094-1G=) c.5749-1G= (n.5749-1G=) c.2095-1G= (n.2095-1G=) c.5989-1G= (n.5989-1G=) c.5980-1G= (n.5980-1G=) c.5995-1G= (n.5995-1G=) c.292-1G= (n.292-1G=) | |
X | g.32287702C>G | CA412666679 | DMD | c.964-1G>C (n.964-1G>C) c.6118-1G>C (n.6118-1G>C) c.2086-1G>C (n.2086-1G>C) c.6106-1G>C (n.6106-1G>C) n.336-70639G>C c.6094-1G>C (n.6094-1G>C) c.5749-1G>C (n.5749-1G>C) c.2095-1G>C (n.2095-1G>C) c.5989-1G>C (n.5989-1G>C) c.5980-1G>C (n.5980-1G>C) c.5995-1G>C (n.5995-1G>C) c.292-1G>C (n.292-1G>C) | ClinVar dbSNP |
X | g.32287702C>T | CA16616663 | DMD | c.964-1G>A (n.964-1G>A) c.6118-1G>A (n.6118-1G>A) c.2086-1G>A (n.2086-1G>A) c.6106-1G>A (n.6106-1G>A) n.336-70639G>A c.6094-1G>A (n.6094-1G>A) c.5749-1G>A (n.5749-1G>A) c.2095-1G>A (n.2095-1G>A) c.5989-1G>A (n.5989-1G>A) c.5980-1G>A (n.5980-1G>A) c.5995-1G>A (n.5995-1G>A) c.292-1G>A (n.292-1G>A) | ClinVar dbSNP gnomAD v4 |
X | g.32287703T>A | CA412666684 | DMD | c.964-2A>T (n.964-2A>T) c.6118-2A>T (n.6118-2A>T) c.2086-2A>T (n.2086-2A>T) c.6106-2A>T (n.6106-2A>T) n.336-70640A>T c.6094-2A>T (n.6094-2A>T) c.5749-2A>T (n.5749-2A>T) c.2095-2A>T (n.2095-2A>T) c.5989-2A>T (n.5989-2A>T) c.5980-2A>T (n.5980-2A>T) c.5995-2A>T (n.5995-2A>T) c.292-2A>T (n.292-2A>T) | gnomAD v4 |
X | g.32287703T>C | CA412666685 | DMD | c.964-2A>G (n.964-2A>G) c.6118-2A>G (n.6118-2A>G) c.2086-2A>G (n.2086-2A>G) c.6106-2A>G (n.6106-2A>G) n.336-70640A>G c.6094-2A>G (n.6094-2A>G) c.5749-2A>G (n.5749-2A>G) c.2095-2A>G (n.2095-2A>G) c.5989-2A>G (n.5989-2A>G) c.5980-2A>G (n.5980-2A>G) c.5995-2A>G (n.5995-2A>G) c.292-2A>G (n.292-2A>G) | gnomAD v4 |
X | g.32287703T>G | CA412666683 | DMD | c.964-2A>C (n.964-2A>C) c.6118-2A>C (n.6118-2A>C) c.2086-2A>C (n.2086-2A>C) c.6106-2A>C (n.6106-2A>C) n.336-70640A>C c.6094-2A>C (n.6094-2A>C) c.5749-2A>C (n.5749-2A>C) c.2095-2A>C (n.2095-2A>C) c.5989-2A>C (n.5989-2A>C) c.5980-2A>C (n.5980-2A>C) c.5995-2A>C (n.5995-2A>C) c.292-2A>C (n.292-2A>C) | |
X | g.32287704G>A | CA641222878 | DMD | c.964-3C>T (n.964-3C>T) c.6118-3C>T (n.6118-3C>T) c.2086-3C>T (n.2086-3C>T) c.6106-3C>T (n.6106-3C>T) n.336-70641C>T c.6094-3C>T (n.6094-3C>T) c.5749-3C>T (n.5749-3C>T) c.2095-3C>T (n.2095-3C>T) c.5989-3C>T (n.5989-3C>T) c.5980-3C>T (n.5980-3C>T) c.5995-3C>T (n.5995-3C>T) c.292-3C>T (n.292-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.32287704G= | CA2422736472 | DMD | c.964-3C= (n.964-3C=) c.6118-3C= (n.6118-3C=) c.2086-3C= (n.2086-3C=) c.6106-3C= (n.6106-3C=) n.336-70641C= c.6094-3C= (n.6094-3C=) c.5749-3C= (n.5749-3C=) c.2095-3C= (n.2095-3C=) c.5989-3C= (n.5989-3C=) c.5980-3C= (n.5980-3C=) c.5995-3C= (n.5995-3C=) c.292-3C= (n.292-3C=) | |
X | g.32287704G>T | CA346277 | DMD | c.964-3C>A (n.964-3C>A) c.6118-3C>A (n.6118-3C>A) c.2086-3C>A (n.2086-3C>A) c.6106-3C>A (n.6106-3C>A) n.336-70641C>A c.6094-3C>A (n.6094-3C>A) c.5749-3C>A (n.5749-3C>A) c.2095-3C>A (n.2095-3C>A) c.5989-3C>A (n.5989-3C>A) c.5980-3C>A (n.5980-3C>A) c.5995-3C>A (n.5995-3C>A) c.292-3C>A (n.292-3C>A) | ClinVar dbSNP gnomAD v4 |
X | g.32287705del | CA2693406167 | DMD | c.964-4del (n.964-4del) c.6118-4del (n.6118-4del) c.2086-4del (n.2086-4del) c.6106-4del (n.6106-4del) n.336-70642del c.6094-4del (n.6094-4del) c.5749-4del (n.5749-4del) c.2095-4del (n.2095-4del) c.5989-4del (n.5989-4del) c.5980-4del (n.5980-4del) c.5995-4del (n.5995-4del) c.292-4del (n.292-4del) | gnomAD v4 |
X | g.32287705T>C | CA16608839 | DMD | c.964-4A>G (n.964-4A>G) c.6118-4A>G (n.6118-4A>G) c.2086-4A>G (n.2086-4A>G) c.6106-4A>G (n.6106-4A>G) n.336-70642A>G c.6094-4A>G (n.6094-4A>G) c.5749-4A>G (n.5749-4A>G) c.2095-4A>G (n.2095-4A>G) c.5989-4A>G (n.5989-4A>G) c.5980-4A>G (n.5980-4A>G) c.5995-4A>G (n.5995-4A>G) c.292-4A>G (n.292-4A>G) | ClinVar dbSNP |
X | g.32287705T= | CA2422736473 | DMD | c.964-4A= (n.964-4A=) c.6118-4A= (n.6118-4A=) c.2086-4A= (n.2086-4A=) c.6106-4A= (n.6106-4A=) n.336-70642A= c.6094-4A= (n.6094-4A=) c.5749-4A= (n.5749-4A=) c.2095-4A= (n.2095-4A=) c.5989-4A= (n.5989-4A=) c.5980-4A= (n.5980-4A=) c.5995-4A= (n.5995-4A=) c.292-4A= (n.292-4A=) | |
X | g.32287706A= | CA2422736474 | DMD | c.964-5T= (n.964-5T=) c.6118-5T= (n.6118-5T=) c.2086-5T= (n.2086-5T=) c.6106-5T= (n.6106-5T=) n.336-70643T= c.6094-5T= (n.6094-5T=) c.5749-5T= (n.5749-5T=) c.2095-5T= (n.2095-5T=) c.5989-5T= (n.5989-5T=) c.5980-5T= (n.5980-5T=) c.5995-5T= (n.5995-5T=) c.292-5T= (n.292-5T=) | |
X | g.32287706A>G | CA10378529 | DMD | c.964-5T>C (n.964-5T>C) c.6118-5T>C (n.6118-5T>C) c.2086-5T>C (n.2086-5T>C) c.6106-5T>C (n.6106-5T>C) n.336-70643T>C c.6094-5T>C (n.6094-5T>C) c.5749-5T>C (n.5749-5T>C) c.2095-5T>C (n.2095-5T>C) c.5989-5T>C (n.5989-5T>C) c.5980-5T>C (n.5980-5T>C) c.5995-5T>C (n.5995-5T>C) c.292-5T>C (n.292-5T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32287707del | CA2579579368 | DMD | c.964-5del (n.964-5del) c.6118-5del (n.6118-5del) c.2086-5del (n.2086-5del) c.6106-5del (n.6106-5del) n.336-70643del c.6094-5del (n.6094-5del) c.5749-5del (n.5749-5del) c.2095-5del (n.2095-5del) c.5989-5del (n.5989-5del) c.5980-5del (n.5980-5del) c.5995-5del (n.5995-5del) c.292-5del (n.292-5del) |