Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.32287690_32287693delCA347585DMDc.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
Xg.32287693T>ACA412666626DMDc.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)
Xg.32287693T>CCA515860945DMDc.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=)
Xg.32287693T>GCA412666632DMDc.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)
Xg.32287696delCA2579579367DMDc.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
Xg.32287694T>ACA412666634DMDc.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)
Xg.32287694T>CCA412666637DMDc.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)
Xg.32287694T>GCA412666639DMDc.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)
Xg.32287695T>ACA412666642DMDc.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
Xg.32287695T>CCA412666647DMDc.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
Xg.32287695T>GCA412666649DMDc.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)
Xg.32287695T=CA2422736468DMDc.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=)
Xg.32287696T>ACA515860954DMDc.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=)
Xg.32287696T>CCA412666651DMDc.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)
Xg.32287696T>GCA515860952DMDc.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=)
Xg.32287697A=CA2422736469DMDc.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=)
Xg.32287697A>CCA412666653DMDc.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)
Xg.32287697A>GCA10378528DMDc.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
Xg.32287697A>TCA412666656DMDc.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)
Xg.32287698T>ACA412666661DMDc.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
Xg.32287698T>CCA412666658DMDc.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)
Xg.32287698T>GCA412666660DMDc.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)
Xg.32287699A=CA2422736470DMDc.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=)
Xg.32287699A>CCA412666662DMDc.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)
Xg.32287699A>GCA515860961DMDc.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
Xg.32287699A>TCA412666664DMDc.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
Xg.32287700T>ACA412666667DMDc.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
Xg.32287700T>CCA412666668DMDc.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)
Xg.32287700T>GCA412666671DMDc.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)
Xg.32287701T>ACA412666674DMDc.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)
Xg.32287701T>CCA412666675DMDc.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)
Xg.32287701T>GCA412666676DMDc.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)
Xg.32287702_32287710delCA2693406165DMDc.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
Xg.32287701_32287702insACA2693406166DMDc.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
Xg.32287702C>ACA412666677DMDc.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
Xg.32287702C=CA2422736471DMDc.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=)
Xg.32287702C>GCA412666679DMDc.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
Xg.32287702C>TCA16616663DMDc.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
Xg.32287703T>ACA412666684DMDc.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
Xg.32287703T>CCA412666685DMDc.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
Xg.32287703T>GCA412666683DMDc.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)
Xg.32287704G>ACA641222878DMDc.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
Xg.32287704G=CA2422736472DMDc.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=)
Xg.32287704G>TCA346277DMDc.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
Xg.32287705delCA2693406167DMDc.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
Xg.32287705T>CCA16608839DMDc.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
Xg.32287705T=CA2422736473DMDc.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=)
Xg.32287706A=CA2422736474DMDc.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=)
Xg.32287706A>GCA10378529DMDc.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
Xg.32287707delCA2579579368DMDc.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)

Number of alleles fetched