Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.32287682_32287684delCA2579579366DMDc.985_987del (p.Gln329del)
c.6139_6141del (p.Gln2047del)
c.2107_2109del (p.Gln703del)
c.6127_6129del (p.Gln2043del)
n.336-70617_336-70615del
c.6115_6117del (p.Gln2039del)
c.5770_5772del (p.Gln1924del)
c.2116_2118del (p.Gln706del)
c.6010_6012del (p.Gln2004del)
c.6001_6003del (p.Gln2001del)
c.6016_6018del (p.Gln2006del)
c.313_315del (p.Gln105del)
Xg.32287680G>ACA10654749DMDc.985C>T (p.Gln329Ter)
c.6139C>T (p.Gln2047Ter)
c.2107C>T (p.Gln703Ter)
c.6127C>T (p.Gln2043Ter)
n.336-70617C>T
c.6115C>T (p.Gln2039Ter)
c.5770C>T (p.Gln1924Ter)
c.2116C>T (p.Gln706Ter)
c.6010C>T (p.Gln2004Ter)
c.6001C>T (p.Gln2001Ter)
c.6016C>T (p.Gln2006Ter)
c.313C>T (p.Gln105Ter)
ClinVar dbSNP
Xg.32287680G>CCA412666540DMDc.985C>G (p.Gln329Glu)
c.6139C>G (p.Gln2047Glu)
c.2107C>G (p.Gln703Glu)
c.6127C>G (p.Gln2043Glu)
n.336-70617C>G
c.6115C>G (p.Gln2039Glu)
c.5770C>G (p.Gln1924Glu)
c.2116C>G (p.Gln706Glu)
c.6010C>G (p.Gln2004Glu)
c.6001C>G (p.Gln2001Glu)
c.6016C>G (p.Gln2006Glu)
c.313C>G (p.Gln105Glu)
Xg.32287680G=CA2422736462DMDc.985C= (p.Gln329=)
c.6139C= (p.Gln2047=)
c.2107C= (p.Gln703=)
c.6127C= (p.Gln2043=)
n.336-70617C=
c.6115C= (p.Gln2039=)
c.5770C= (p.Gln1924=)
c.2116C= (p.Gln706=)
c.6010C= (p.Gln2004=)
c.6001C= (p.Gln2001=)
c.6016C= (p.Gln2006=)
c.313C= (p.Gln105=)
Xg.32287680G>TCA412666535DMDc.985C>A (p.Gln329Lys)
c.6139C>A (p.Gln2047Lys)
c.2107C>A (p.Gln703Lys)
c.6127C>A (p.Gln2043Lys)
n.336-70617C>A
c.6115C>A (p.Gln2039Lys)
c.5770C>A (p.Gln1924Lys)
c.2116C>A (p.Gln706Lys)
c.6010C>A (p.Gln2004Lys)
c.6001C>A (p.Gln2001Lys)
c.6016C>A (p.Gln2006Lys)
c.313C>A (p.Gln105Lys)
Xg.32287681T>ACA412666543DMDc.984A>T (p.Gln328His)
c.6138A>T (p.Gln2046His)
c.2106A>T (p.Gln702His)
c.6126A>T (p.Gln2042His)
n.336-70618A>T
c.6114A>T (p.Gln2038His)
c.5769A>T (p.Gln1923His)
c.2115A>T (p.Gln705His)
c.6009A>T (p.Gln2003His)
c.6000A>T (p.Gln2000His)
c.6015A>T (p.Gln2005His)
c.312A>T (p.Gln104His)
dbSNP gnomAD v4
Xg.32287681T>CCA10378524DMDc.984A>G (p.Gln328=)
c.6138A>G (p.Gln2046=)
c.2106A>G (p.Gln702=)
c.6126A>G (p.Gln2042=)
n.336-70618A>G
c.6114A>G (p.Gln2038=)
c.5769A>G (p.Gln1923=)
c.2115A>G (p.Gln705=)
c.6009A>G (p.Gln2003=)
c.6000A>G (p.Gln2000=)
c.6015A>G (p.Gln2005=)
c.312A>G (p.Gln104=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287681T>GCA412666545DMDc.984A>C (p.Gln328His)
c.6138A>C (p.Gln2046His)
c.2106A>C (p.Gln702His)
c.6126A>C (p.Gln2042His)
n.336-70618A>C
c.6114A>C (p.Gln2038His)
c.5769A>C (p.Gln1923His)
c.2115A>C (p.Gln705His)
c.6009A>C (p.Gln2003His)
c.6000A>C (p.Gln2000His)
c.6015A>C (p.Gln2005His)
c.312A>C (p.Gln104His)
Xg.32287681T=CA2422736463DMDc.984A= (p.Gln328=)
c.6138A= (p.Gln2046=)
c.2106A= (p.Gln702=)
c.6126A= (p.Gln2042=)
n.336-70618A=
c.6114A= (p.Gln2038=)
c.5769A= (p.Gln1923=)
c.2115A= (p.Gln705=)
c.6009A= (p.Gln2003=)
c.6000A= (p.Gln2000=)
c.6015A= (p.Gln2005=)
c.312A= (p.Gln104=)
Xg.32287682T>ACA412666559DMDc.983A>T (p.Gln328Leu)
c.6137A>T (p.Gln2046Leu)
c.2105A>T (p.Gln702Leu)
c.6125A>T (p.Gln2042Leu)
n.336-70619A>T
c.6113A>T (p.Gln2038Leu)
c.5768A>T (p.Gln1923Leu)
c.2114A>T (p.Gln705Leu)
c.6008A>T (p.Gln2003Leu)
c.5999A>T (p.Gln2000Leu)
c.6014A>T (p.Gln2005Leu)
c.311A>T (p.Gln104Leu)
Xg.32287682T>CCA412666567DMDc.983A>G (p.Gln328Arg)
c.6137A>G (p.Gln2046Arg)
c.2105A>G (p.Gln702Arg)
c.6125A>G (p.Gln2042Arg)
n.336-70619A>G
c.6113A>G (p.Gln2038Arg)
c.5768A>G (p.Gln1923Arg)
c.2114A>G (p.Gln705Arg)
c.6008A>G (p.Gln2003Arg)
c.5999A>G (p.Gln2000Arg)
c.6014A>G (p.Gln2005Arg)
c.311A>G (p.Gln104Arg)
Xg.32287682T>GCA412666565DMDc.983A>C (p.Gln328Pro)
c.6137A>C (p.Gln2046Pro)
c.2105A>C (p.Gln702Pro)
c.6125A>C (p.Gln2042Pro)
n.336-70619A>C
c.6113A>C (p.Gln2038Pro)
c.5768A>C (p.Gln1923Pro)
c.2114A>C (p.Gln705Pro)
c.6008A>C (p.Gln2003Pro)
c.5999A>C (p.Gln2000Pro)
c.6014A>C (p.Gln2005Pro)
c.311A>C (p.Gln104Pro)
Xg.32287683G>ACA412666577DMDc.982C>T (p.Gln328Ter)
c.6136C>T (p.Gln2046Ter)
c.2104C>T (p.Gln702Ter)
c.6124C>T (p.Gln2042Ter)
n.336-70620C>T
c.6112C>T (p.Gln2038Ter)
c.5767C>T (p.Gln1923Ter)
c.2113C>T (p.Gln705Ter)
c.6007C>T (p.Gln2003Ter)
c.5998C>T (p.Gln2000Ter)
c.6013C>T (p.Gln2005Ter)
c.310C>T (p.Gln104Ter)
ClinVar dbSNP
Xg.32287683G>CCA412666579DMDc.982C>G (p.Gln328Glu)
c.6136C>G (p.Gln2046Glu)
c.2104C>G (p.Gln702Glu)
c.6124C>G (p.Gln2042Glu)
n.336-70620C>G
c.6112C>G (p.Gln2038Glu)
c.5767C>G (p.Gln1923Glu)
c.2113C>G (p.Gln705Glu)
c.6007C>G (p.Gln2003Glu)
c.5998C>G (p.Gln2000Glu)
c.6013C>G (p.Gln2005Glu)
c.310C>G (p.Gln104Glu)
Xg.32287683G>TCA412666582DMDc.982C>A (p.Gln328Lys)
c.6136C>A (p.Gln2046Lys)
c.2104C>A (p.Gln702Lys)
c.6124C>A (p.Gln2042Lys)
n.336-70620C>A
c.6112C>A (p.Gln2038Lys)
c.5767C>A (p.Gln1923Lys)
c.2113C>A (p.Gln705Lys)
c.6007C>A (p.Gln2003Lys)
c.5998C>A (p.Gln2000Lys)
c.6013C>A (p.Gln2005Lys)
c.310C>A (p.Gln104Lys)
Xg.32287684T>ACA515860919DMDc.981A>T (p.Leu327=)
c.6135A>T (p.Leu2045=)
c.2103A>T (p.Leu701=)
c.6123A>T (p.Leu2041=)
n.336-70621A>T
c.6111A>T (p.Leu2037=)
c.5766A>T (p.Leu1922=)
c.2112A>T (p.Leu704=)
c.6006A>T (p.Leu2002=)
c.5997A>T (p.Leu1999=)
c.6012A>T (p.Leu2004=)
c.309A>T (p.Leu103=)
Xg.32287684T>CCA10378525DMDc.981A>G (p.Leu327=)
c.6135A>G (p.Leu2045=)
c.2103A>G (p.Leu701=)
c.6123A>G (p.Leu2041=)
n.336-70621A>G
c.6111A>G (p.Leu2037=)
c.5766A>G (p.Leu1922=)
c.2112A>G (p.Leu704=)
c.6006A>G (p.Leu2002=)
c.5997A>G (p.Leu1999=)
c.6012A>G (p.Leu2004=)
c.309A>G (p.Leu103=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32287684T>GCA515860922DMDc.981A>C (p.Leu327=)
c.6135A>C (p.Leu2045=)
c.2103A>C (p.Leu701=)
c.6123A>C (p.Leu2041=)
n.336-70621A>C
c.6111A>C (p.Leu2037=)
c.5766A>C (p.Leu1922=)
c.2112A>C (p.Leu704=)
c.6006A>C (p.Leu2002=)
c.5997A>C (p.Leu1999=)
c.6012A>C (p.Leu2004=)
c.309A>C (p.Leu103=)
Xg.32287684T=CA2422736464DMDc.981A= (p.Leu327=)
c.6135A= (p.Leu2045=)
c.2103A= (p.Leu701=)
c.6123A= (p.Leu2041=)
n.336-70621A=
c.6111A= (p.Leu2037=)
c.5766A= (p.Leu1922=)
c.2112A= (p.Leu704=)
c.6006A= (p.Leu2002=)
c.5997A= (p.Leu1999=)
c.6012A= (p.Leu2004=)
c.309A= (p.Leu103=)
Xg.32287685A>CCA412666585DMDc.980T>G (p.Leu327Arg)
c.6134T>G (p.Leu2045Arg)
c.2102T>G (p.Leu701Arg)
c.6122T>G (p.Leu2041Arg)
n.336-70622T>G
c.6110T>G (p.Leu2037Arg)
c.5765T>G (p.Leu1922Arg)
c.2111T>G (p.Leu704Arg)
c.6005T>G (p.Leu2002Arg)
c.5996T>G (p.Leu1999Arg)
c.6011T>G (p.Leu2004Arg)
c.308T>G (p.Leu103Arg)
Xg.32287685A>GCA412666587DMDc.980T>C (p.Leu327Pro)
c.6134T>C (p.Leu2045Pro)
c.2102T>C (p.Leu701Pro)
c.6122T>C (p.Leu2041Pro)
n.336-70622T>C
c.6110T>C (p.Leu2037Pro)
c.5765T>C (p.Leu1922Pro)
c.2111T>C (p.Leu704Pro)
c.6005T>C (p.Leu2002Pro)
c.5996T>C (p.Leu1999Pro)
c.6011T>C (p.Leu2004Pro)
c.308T>C (p.Leu103Pro)
Xg.32287685A>TCA412666590DMDc.980T>A (p.Leu327Gln)
c.6134T>A (p.Leu2045Gln)
c.2102T>A (p.Leu701Gln)
c.6122T>A (p.Leu2041Gln)
n.336-70622T>A
c.6110T>A (p.Leu2037Gln)
c.5765T>A (p.Leu1922Gln)
c.2111T>A (p.Leu704Gln)
c.6005T>A (p.Leu2002Gln)
c.5996T>A (p.Leu1999Gln)
c.6011T>A (p.Leu2004Gln)
c.308T>A (p.Leu103Gln)
Xg.32287686G>ACA515860927DMDc.979C>T (p.Leu327=)
c.6133C>T (p.Leu2045=)
c.2101C>T (p.Leu701=)
c.6121C>T (p.Leu2041=)
n.336-70623C>T
c.6109C>T (p.Leu2037=)
c.5764C>T (p.Leu1922=)
c.2110C>T (p.Leu704=)
c.6004C>T (p.Leu2002=)
c.5995C>T (p.Leu1999=)
c.6010C>T (p.Leu2004=)
c.307C>T (p.Leu103=)
Xg.32287686G>CCA412666593DMDc.979C>G (p.Leu327Val)
c.6133C>G (p.Leu2045Val)
c.2101C>G (p.Leu701Val)
c.6121C>G (p.Leu2041Val)
n.336-70623C>G
c.6109C>G (p.Leu2037Val)
c.5764C>G (p.Leu1922Val)
c.2110C>G (p.Leu704Val)
c.6004C>G (p.Leu2002Val)
c.5995C>G (p.Leu1999Val)
c.6010C>G (p.Leu2004Val)
c.307C>G (p.Leu103Val)
Xg.32287686G>TCA412666598DMDc.979C>A (p.Leu327Ile)
c.6133C>A (p.Leu2045Ile)
c.2101C>A (p.Leu701Ile)
c.6121C>A (p.Leu2041Ile)
n.336-70623C>A
c.6109C>A (p.Leu2037Ile)
c.5764C>A (p.Leu1922Ile)
c.2110C>A (p.Leu704Ile)
c.6004C>A (p.Leu2002Ile)
c.5995C>A (p.Leu1999Ile)
c.6010C>A (p.Leu2004Ile)
c.307C>A (p.Leu103Ile)
Xg.32287686_32287689dupCA2573332566DMDc.976_979dup (p.Leu327GlnfsTer10)
c.6130_6133dup (p.Leu2045GlnfsTer10)
c.2098_2101dup (p.Leu701GlnfsTer10)
c.6118_6121dup (p.Leu2041GlnfsTer10)
n.336-70626_336-70623dup
c.6106_6109dup (p.Leu2037GlnfsTer10)
c.5761_5764dup (p.Leu1922GlnfsTer10)
c.2107_2110dup (p.Leu704GlnfsTer10)
c.6001_6004dup (p.Leu2002GlnfsTer10)
c.5992_5995dup (p.Leu1999GlnfsTer10)
c.6007_6010dup (p.Leu2004GlnfsTer10)
c.304_307dup (p.Leu103GlnfsTer10)
Xg.32287687A=CA2422736465DMDc.978T= (p.Ser326=)
c.6132T= (p.Ser2044=)
c.2100T= (p.Ser700=)
c.6120T= (p.Ser2040=)
n.336-70624T=
c.6108T= (p.Ser2036=)
c.5763T= (p.Ser1921=)
c.2109T= (p.Ser703=)
c.6003T= (p.Ser2001=)
c.5994T= (p.Ser1998=)
c.6009T= (p.Ser2003=)
c.306T= (p.Ser102=)
Xg.32287687A>CCA412666600DMDc.978T>G (p.Ser326Arg)
c.6132T>G (p.Ser2044Arg)
c.2100T>G (p.Ser700Arg)
c.6120T>G (p.Ser2040Arg)
n.336-70624T>G
c.6108T>G (p.Ser2036Arg)
c.5763T>G (p.Ser1921Arg)
c.2109T>G (p.Ser703Arg)
c.6003T>G (p.Ser2001Arg)
c.5994T>G (p.Ser1998Arg)
c.6009T>G (p.Ser2003Arg)
c.306T>G (p.Ser102Arg)
Xg.32287687A>GCA10378526DMDc.978T>C (p.Ser326=)
c.6132T>C (p.Ser2044=)
c.2100T>C (p.Ser700=)
c.6120T>C (p.Ser2040=)
n.336-70624T>C
c.6108T>C (p.Ser2036=)
c.5763T>C (p.Ser1921=)
c.2109T>C (p.Ser703=)
c.6003T>C (p.Ser2001=)
c.5994T>C (p.Ser1998=)
c.6009T>C (p.Ser2003=)
c.306T>C (p.Ser102=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287687A>TCA412666602DMDc.978T>A (p.Ser326Arg)
c.6132T>A (p.Ser2044Arg)
c.2100T>A (p.Ser700Arg)
c.6120T>A (p.Ser2040Arg)
n.336-70624T>A
c.6108T>A (p.Ser2036Arg)
c.5763T>A (p.Ser1921Arg)
c.2109T>A (p.Ser703Arg)
c.6003T>A (p.Ser2001Arg)
c.5994T>A (p.Ser1998Arg)
c.6009T>A (p.Ser2003Arg)
c.306T>A (p.Ser102Arg)
Xg.32287687_32287691delinsACTATCA2422736466DMDc.974_978delinsATAGT (p.Asp325=)
c.6128_6132delinsATAGT (p.Asp2043=)
c.2096_2100delinsATAGT (p.Asp699=)
c.6116_6120delinsATAGT (p.Asp2039=)
n.336-70628_336-70624delinsATAGT
c.6104_6108delinsATAGT (p.Asp2035=)
c.5759_5763delinsATAGT (p.Asp1920=)
c.2105_2109delinsATAGT (p.Asp702=)
c.5999_6003delinsATAGT (p.Asp2000=)
c.5990_5994delinsATAGT (p.Asp1997=)
c.6005_6009delinsATAGT (p.Asp2002=)
c.302_306delinsATAGT (p.Asp101=)
Xg.32287688C>ACA412666605DMDc.977G>T (p.Ser326Ile)
c.6131G>T (p.Ser2044Ile)
c.2099G>T (p.Ser700Ile)
c.6119G>T (p.Ser2040Ile)
n.336-70625G>T
c.6107G>T (p.Ser2036Ile)
c.5762G>T (p.Ser1921Ile)
c.2108G>T (p.Ser703Ile)
c.6002G>T (p.Ser2001Ile)
c.5993G>T (p.Ser1998Ile)
c.6008G>T (p.Ser2003Ile)
c.305G>T (p.Ser102Ile)
Xg.32287688C>GCA412666607DMDc.977G>C (p.Ser326Thr)
c.6131G>C (p.Ser2044Thr)
c.2099G>C (p.Ser700Thr)
c.6119G>C (p.Ser2040Thr)
n.336-70625G>C
c.6107G>C (p.Ser2036Thr)
c.5762G>C (p.Ser1921Thr)
c.2108G>C (p.Ser703Thr)
c.6002G>C (p.Ser2001Thr)
c.5993G>C (p.Ser1998Thr)
c.6008G>C (p.Ser2003Thr)
c.305G>C (p.Ser102Thr)
Xg.32287688C>TCA412666606DMDc.977G>A (p.Ser326Asn)
c.6131G>A (p.Ser2044Asn)
c.2099G>A (p.Ser700Asn)
c.6119G>A (p.Ser2040Asn)
n.336-70625G>A
c.6107G>A (p.Ser2036Asn)
c.5762G>A (p.Ser1921Asn)
c.2108G>A (p.Ser703Asn)
c.6002G>A (p.Ser2001Asn)
c.5993G>A (p.Ser1998Asn)
c.6008G>A (p.Ser2003Asn)
c.305G>A (p.Ser102Asn)
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.32287689T>ACA412666608DMDc.976A>T (p.Ser326Cys)
c.6130A>T (p.Ser2044Cys)
c.2098A>T (p.Ser700Cys)
c.6118A>T (p.Ser2040Cys)
n.336-70626A>T
c.6106A>T (p.Ser2036Cys)
c.5761A>T (p.Ser1921Cys)
c.2107A>T (p.Ser703Cys)
c.6001A>T (p.Ser2001Cys)
c.5992A>T (p.Ser1998Cys)
c.6007A>T (p.Ser2003Cys)
c.304A>T (p.Ser102Cys)
Xg.32287689T>CCA412666610DMDc.976A>G (p.Ser326Gly)
c.6130A>G (p.Ser2044Gly)
c.2098A>G (p.Ser700Gly)
c.6118A>G (p.Ser2040Gly)
n.336-70626A>G
c.6106A>G (p.Ser2036Gly)
c.5761A>G (p.Ser1921Gly)
c.2107A>G (p.Ser703Gly)
c.6001A>G (p.Ser2001Gly)
c.5992A>G (p.Ser1998Gly)
c.6007A>G (p.Ser2003Gly)
c.304A>G (p.Ser102Gly)
gnomAD v4
Xg.32287689T>GCA412666612DMDc.976A>C (p.Ser326Arg)
c.6130A>C (p.Ser2044Arg)
c.2098A>C (p.Ser700Arg)
c.6118A>C (p.Ser2040Arg)
n.336-70626A>C
c.6106A>C (p.Ser2036Arg)
c.5761A>C (p.Ser1921Arg)
c.2107A>C (p.Ser703Arg)
c.6001A>C (p.Ser2001Arg)
c.5992A>C (p.Ser1998Arg)
c.6007A>C (p.Ser2003Arg)
c.304A>C (p.Ser102Arg)
Xg.32287690A>CCA412666615DMDc.975T>G (p.Asp325Glu)
c.6129T>G (p.Asp2043Glu)
c.2097T>G (p.Asp699Glu)
c.6117T>G (p.Asp2039Glu)
n.336-70627T>G
c.6105T>G (p.Asp2035Glu)
c.5760T>G (p.Asp1920Glu)
c.2106T>G (p.Asp702Glu)
c.6000T>G (p.Asp2000Glu)
c.5991T>G (p.Asp1997Glu)
c.6006T>G (p.Asp2002Glu)
c.303T>G (p.Asp101Glu)
Xg.32287690A>GCA515860937DMDc.975T>C (p.Asp325=)
c.6129T>C (p.Asp2043=)
c.2097T>C (p.Asp699=)
c.6117T>C (p.Asp2039=)
n.336-70627T>C
c.6105T>C (p.Asp2035=)
c.5760T>C (p.Asp1920=)
c.2106T>C (p.Asp702=)
c.6000T>C (p.Asp2000=)
c.5991T>C (p.Asp1997=)
c.6006T>C (p.Asp2002=)
c.303T>C (p.Asp101=)
Xg.32287690A>TCA412666617DMDc.975T>A (p.Asp325Glu)
c.6129T>A (p.Asp2043Glu)
c.2097T>A (p.Asp699Glu)
c.6117T>A (p.Asp2039Glu)
n.336-70627T>A
c.6105T>A (p.Asp2035Glu)
c.5760T>A (p.Asp1920Glu)
c.2106T>A (p.Asp702Glu)
c.6000T>A (p.Asp2000Glu)
c.5991T>A (p.Asp1997Glu)
c.6006T>A (p.Asp2002Glu)
c.303T>A (p.Asp101Glu)
Xg.32287691T>ACA412666618DMDc.974A>T (p.Asp325Val)
c.6128A>T (p.Asp2043Val)
c.2096A>T (p.Asp699Val)
c.6116A>T (p.Asp2039Val)
n.336-70628A>T
c.6104A>T (p.Asp2035Val)
c.5759A>T (p.Asp1920Val)
c.2105A>T (p.Asp702Val)
c.5999A>T (p.Asp2000Val)
c.5990A>T (p.Asp1997Val)
c.6005A>T (p.Asp2002Val)
c.302A>T (p.Asp101Val)
Xg.32287691T>CCA10378527DMDc.974A>G (p.Asp325Gly)
c.6128A>G (p.Asp2043Gly)
c.2096A>G (p.Asp699Gly)
c.6116A>G (p.Asp2039Gly)
n.336-70628A>G
c.6104A>G (p.Asp2035Gly)
c.5759A>G (p.Asp1920Gly)
c.2105A>G (p.Asp702Gly)
c.5999A>G (p.Asp2000Gly)
c.5990A>G (p.Asp1997Gly)
c.6005A>G (p.Asp2002Gly)
c.302A>G (p.Asp101Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287691T>GCA412666619DMDc.974A>C (p.Asp325Ala)
c.6128A>C (p.Asp2043Ala)
c.2096A>C (p.Asp699Ala)
c.6116A>C (p.Asp2039Ala)
n.336-70628A>C
c.6104A>C (p.Asp2035Ala)
c.5759A>C (p.Asp1920Ala)
c.2105A>C (p.Asp702Ala)
c.5999A>C (p.Asp2000Ala)
c.5990A>C (p.Asp1997Ala)
c.6005A>C (p.Asp2002Ala)
c.302A>C (p.Asp101Ala)
Xg.32287691T=CA2422736467DMDc.974A= (p.Asp325=)
c.6128A= (p.Asp2043=)
c.2096A= (p.Asp699=)
c.6116A= (p.Asp2039=)
n.336-70628A=
c.6104A= (p.Asp2035=)
c.5759A= (p.Asp1920=)
c.2105A= (p.Asp702=)
c.5999A= (p.Asp2000=)
c.5990A= (p.Asp1997=)
c.6005A= (p.Asp2002=)
c.302A= (p.Asp101=)
Xg.32287692delCA2695232717DMDc.973del (p.Asp325IlefsTer30)
c.6127del (p.Asp2043IlefsTer30)
c.2095del (p.Asp699IlefsTer30)
c.6115del (p.Asp2039IlefsTer30)
n.336-70629del
c.6103del (p.Asp2035IlefsTer30)
c.5758del (p.Asp1920IlefsTer30)
c.2104del (p.Asp702IlefsTer30)
c.5998del (p.Asp2000IlefsTer30)
c.5989del (p.Asp1997IlefsTer30)
c.6004del (p.Asp2002IlefsTer30)
c.301del (p.Asp101IlefsTer30)
Xg.32287692C>ACA412666623DMDc.973G>T (p.Asp325Tyr)
c.6127G>T (p.Asp2043Tyr)
c.2095G>T (p.Asp699Tyr)
c.6115G>T (p.Asp2039Tyr)
n.336-70629G>T
c.6103G>T (p.Asp2035Tyr)
c.5758G>T (p.Asp1920Tyr)
c.2104G>T (p.Asp702Tyr)
c.5998G>T (p.Asp2000Tyr)
c.5989G>T (p.Asp1997Tyr)
c.6004G>T (p.Asp2002Tyr)
c.301G>T (p.Asp101Tyr)
Xg.32287692C>GCA412666622DMDc.973G>C (p.Asp325His)
c.6127G>C (p.Asp2043His)
c.2095G>C (p.Asp699His)
c.6115G>C (p.Asp2039His)
n.336-70629G>C
c.6103G>C (p.Asp2035His)
c.5758G>C (p.Asp1920His)
c.2104G>C (p.Asp702His)
c.5998G>C (p.Asp2000His)
c.5989G>C (p.Asp1997His)
c.6004G>C (p.Asp2002His)
c.301G>C (p.Asp101His)
Xg.32287692C>TCA412666620DMDc.973G>A (p.Asp325Asn)
c.6127G>A (p.Asp2043Asn)
c.2095G>A (p.Asp699Asn)
c.6115G>A (p.Asp2039Asn)
n.336-70629G>A
c.6103G>A (p.Asp2035Asn)
c.5758G>A (p.Asp1920Asn)
c.2104G>A (p.Asp702Asn)
c.5998G>A (p.Asp2000Asn)
c.5989G>A (p.Asp1997Asn)
c.6004G>A (p.Asp2002Asn)
c.301G>A (p.Asp101Asn)
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)

Number of alleles fetched