Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.32343127_32343129delCA10378613DMDc.585+9_585+11del (n.585+9_585+11del)
c.5739+9_5739+11del (n.5739+9_5739+11del)
c.1707+9_1707+11del (n.1707+9_1707+11del)
c.5727+9_5727+11del (n.5727+9_5727+11del)
n.336-126062_336-126060del
c.396+9_396+11del (n.396+9_396+11del)
c.5715+9_5715+11del (n.5715+9_5715+11del)
c.5370+9_5370+11del (n.5370+9_5370+11del)
c.1716+9_1716+11del (n.1716+9_1716+11del)
c.5610+9_5610+11del (n.5610+9_5610+11del)
c.5601+9_5601+11del (n.5601+9_5601+11del)
c.5616+9_5616+11del (n.5616+9_5616+11del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343127A>GCA2693393763DMDc.585+7T>C (n.585+7T>C)
c.5739+7T>C (n.5739+7T>C)
c.1707+7T>C (n.1707+7T>C)
c.5727+7T>C (n.5727+7T>C)
n.336-126064T>C
c.396+7T>C (n.396+7T>C)
c.5715+7T>C (n.5715+7T>C)
c.5370+7T>C (n.5370+7T>C)
c.1716+7T>C (n.1716+7T>C)
c.5610+7T>C (n.5610+7T>C)
c.5601+7T>C (n.5601+7T>C)
c.5616+7T>C (n.5616+7T>C)
 gnomAD v4
Xg.32343128C>TCA2580100647DMDc.585+6G>A (n.585+6G>A)
c.5739+6G>A (n.5739+6G>A)
c.1707+6G>A (n.1707+6G>A)
c.5727+6G>A (n.5727+6G>A)
n.336-126065G>A
c.396+6G>A (n.396+6G>A)
c.5715+6G>A (n.5715+6G>A)
c.5370+6G>A (n.5370+6G>A)
c.1716+6G>A (n.1716+6G>A)
c.5610+6G>A (n.5610+6G>A)
c.5601+6G>A (n.5601+6G>A)
c.5616+6G>A (n.5616+6G>A)
 ClinVar gnomAD v4
Xg.32343129A>TCA2693393764DMDc.585+5T>A (n.585+5T>A)
c.5739+5T>A (n.5739+5T>A)
c.1707+5T>A (n.1707+5T>A)
c.5727+5T>A (n.5727+5T>A)
n.336-126066T>A
c.396+5T>A (n.396+5T>A)
c.5715+5T>A (n.5715+5T>A)
c.5370+5T>A (n.5370+5T>A)
c.1716+5T>A (n.1716+5T>A)
c.5610+5T>A (n.5610+5T>A)
c.5601+5T>A (n.5601+5T>A)
c.5616+5T>A (n.5616+5T>A)
 gnomAD v4
Xg.32343133_32343138delCA2573158784DMDc.584_585+4del
c.5738_5739+4del
c.1706_1707+4del
c.5726_5727+4del
n.336-126072_336-126067del
c.395_396+4del
c.5714_5715+4del
c.5369_5370+4del
c.1715_1716+4del
c.5609_5610+4del
c.5600_5601+4del
c.5615_5616+4del
 ClinVar dbSNP
Xg.32343131T>GCA2693393765DMDc.585+3A>C (n.585+3A>C)
c.5739+3A>C (n.5739+3A>C)
c.1707+3A>C (n.1707+3A>C)
c.5727+3A>C (n.5727+3A>C)
n.336-126068A>C
c.396+3A>C (n.396+3A>C)
c.5715+3A>C (n.5715+3A>C)
c.5370+3A>C (n.5370+3A>C)
c.1716+3A>C (n.1716+3A>C)
c.5610+3A>C (n.5610+3A>C)
c.5601+3A>C (n.5601+3A>C)
c.5616+3A>C (n.5616+3A>C)
 gnomAD v4
Xg.32343132A>CCA412665492DMDc.585+2T>G (n.585+2T>G)
c.5739+2T>G (n.5739+2T>G)
c.1707+2T>G (n.1707+2T>G)
c.5727+2T>G (n.5727+2T>G)
n.336-126069T>G
c.396+2T>G (n.396+2T>G)
c.5715+2T>G (n.5715+2T>G)
c.5370+2T>G (n.5370+2T>G)
c.1716+2T>G (n.1716+2T>G)
c.5610+2T>G (n.5610+2T>G)
c.5601+2T>G (n.5601+2T>G)
c.5616+2T>G (n.5616+2T>G)
Xg.32343132A>GCA412665495DMDc.585+2T>C (n.585+2T>C)
c.5739+2T>C (n.5739+2T>C)
c.1707+2T>C (n.1707+2T>C)
c.5727+2T>C (n.5727+2T>C)
n.336-126069T>C
c.396+2T>C (n.396+2T>C)
c.5715+2T>C (n.5715+2T>C)
c.5370+2T>C (n.5370+2T>C)
c.1716+2T>C (n.1716+2T>C)
c.5610+2T>C (n.5610+2T>C)
c.5601+2T>C (n.5601+2T>C)
c.5616+2T>C (n.5616+2T>C)
Xg.32343132A>TCA412665498DMDc.585+2T>A (n.585+2T>A)
c.5739+2T>A (n.5739+2T>A)
c.1707+2T>A (n.1707+2T>A)
c.5727+2T>A (n.5727+2T>A)
n.336-126069T>A
c.396+2T>A (n.396+2T>A)
c.5715+2T>A (n.5715+2T>A)
c.5370+2T>A (n.5370+2T>A)
c.1716+2T>A (n.1716+2T>A)
c.5610+2T>A (n.5610+2T>A)
c.5601+2T>A (n.5601+2T>A)
c.5616+2T>A (n.5616+2T>A)
Xg.32343133C>ACA10605032DMDc.585+1G>T (n.585+1G>T)
c.5739+1G>T (n.5739+1G>T)
c.1707+1G>T (n.1707+1G>T)
c.5727+1G>T (n.5727+1G>T)
n.336-126070G>T
c.396+1G>T (n.396+1G>T)
c.5715+1G>T (n.5715+1G>T)
c.5370+1G>T (n.5370+1G>T)
c.1716+1G>T (n.1716+1G>T)
c.5610+1G>T (n.5610+1G>T)
c.5601+1G>T (n.5601+1G>T)
c.5616+1G>T (n.5616+1G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343133C=CA2422760766DMDc.585+1G= (n.585+1G=)
c.5739+1G= (n.5739+1G=)
c.1707+1G= (n.1707+1G=)
c.5727+1G= (n.5727+1G=)
n.336-126070G=
c.396+1G= (n.396+1G=)
c.5715+1G= (n.5715+1G=)
c.5370+1G= (n.5370+1G=)
c.1716+1G= (n.1716+1G=)
c.5610+1G= (n.5610+1G=)
c.5601+1G= (n.5601+1G=)
c.5616+1G= (n.5616+1G=)
Xg.32343133C>GCA412665503DMDc.585+1G>C (n.585+1G>C)
c.5739+1G>C (n.5739+1G>C)
c.1707+1G>C (n.1707+1G>C)
c.5727+1G>C (n.5727+1G>C)
n.336-126070G>C
c.396+1G>C (n.396+1G>C)
c.5715+1G>C (n.5715+1G>C)
c.5370+1G>C (n.5370+1G>C)
c.1716+1G>C (n.1716+1G>C)
c.5610+1G>C (n.5610+1G>C)
c.5601+1G>C (n.5601+1G>C)
c.5616+1G>C (n.5616+1G>C)
Xg.32343133C>TCA412665501DMDc.585+1G>A (n.585+1G>A)
c.5739+1G>A (n.5739+1G>A)
c.1707+1G>A (n.1707+1G>A)
c.5727+1G>A (n.5727+1G>A)
n.336-126070G>A
c.396+1G>A (n.396+1G>A)
c.5715+1G>A (n.5715+1G>A)
c.5370+1G>A (n.5370+1G>A)
c.1716+1G>A (n.1716+1G>A)
c.5610+1G>A (n.5610+1G>A)
c.5601+1G>A (n.5601+1G>A)
c.5616+1G>A (n.5616+1G>A)
Xg.32343134C>ACA412665507DMDc.585G>T (p.Lys195Asn)
c.5739G>T (p.Lys1913Asn)
c.1707G>T (p.Lys569Asn)
c.5727G>T (p.Lys1909Asn)
n.336-126071G>T
c.396G>T (p.Lys132Asn)
c.5715G>T (p.Lys1905Asn)
c.5370G>T (p.Lys1790Asn)
c.1716G>T (p.Lys572Asn)
c.5610G>T (p.Lys1870Asn)
c.5601G>T (p.Lys1867Asn)
c.5616G>T (p.Lys1872Asn)
Xg.32343134C>GCA412665509DMDc.585G>C (p.Lys195Asn)
c.5739G>C (p.Lys1913Asn)
c.1707G>C (p.Lys569Asn)
c.5727G>C (p.Lys1909Asn)
n.336-126071G>C
c.396G>C (p.Lys132Asn)
c.5715G>C (p.Lys1905Asn)
c.5370G>C (p.Lys1790Asn)
c.1716G>C (p.Lys572Asn)
c.5610G>C (p.Lys1870Asn)
c.5601G>C (p.Lys1867Asn)
c.5616G>C (p.Lys1872Asn)
Xg.32343134C>TCA515713732DMDc.585G>A (p.Lys195=)
c.5739G>A (p.Lys1913=)
c.1707G>A (p.Lys569=)
c.5727G>A (p.Lys1909=)
n.336-126071G>A
c.396G>A (p.Lys132=)
c.5715G>A (p.Lys1905=)
c.5370G>A (p.Lys1790=)
c.1716G>A (p.Lys572=)
c.5610G>A (p.Lys1870=)
c.5601G>A (p.Lys1867=)
c.5616G>A (p.Lys1872=)
Xg.32343135T>ACA412665512DMDc.584A>T (p.Lys195Met)
c.5738A>T (p.Lys1913Met)
c.1706A>T (p.Lys569Met)
c.5726A>T (p.Lys1909Met)
n.336-126072A>T
c.395A>T (p.Lys132Met)
c.5714A>T (p.Lys1905Met)
c.5369A>T (p.Lys1790Met)
c.1715A>T (p.Lys572Met)
c.5609A>T (p.Lys1870Met)
c.5600A>T (p.Lys1867Met)
c.5615A>T (p.Lys1872Met)
Xg.32343135T>CCA412665518DMDc.584A>G (p.Lys195Arg)
c.5738A>G (p.Lys1913Arg)
c.1706A>G (p.Lys569Arg)
c.5726A>G (p.Lys1909Arg)
n.336-126072A>G
c.395A>G (p.Lys132Arg)
c.5714A>G (p.Lys1905Arg)
c.5369A>G (p.Lys1790Arg)
c.1715A>G (p.Lys572Arg)
c.5609A>G (p.Lys1870Arg)
c.5600A>G (p.Lys1867Arg)
c.5615A>G (p.Lys1872Arg)
Xg.32343135T>GCA412665514DMDc.584A>C (p.Lys195Thr)
c.5738A>C (p.Lys1913Thr)
c.1706A>C (p.Lys569Thr)
c.5726A>C (p.Lys1909Thr)
n.336-126072A>C
c.395A>C (p.Lys132Thr)
c.5714A>C (p.Lys1905Thr)
c.5369A>C (p.Lys1790Thr)
c.1715A>C (p.Lys572Thr)
c.5609A>C (p.Lys1870Thr)
c.5600A>C (p.Lys1867Thr)
c.5615A>C (p.Lys1872Thr)
Xg.32343136T>ACA412665521DMDc.583A>T (p.Lys195Ter)
c.5737A>T (p.Lys1913Ter)
c.1705A>T (p.Lys569Ter)
c.5725A>T (p.Lys1909Ter)
n.336-126073A>T
c.394A>T (p.Lys132Ter)
c.5713A>T (p.Lys1905Ter)
c.5368A>T (p.Lys1790Ter)
c.1714A>T (p.Lys572Ter)
c.5608A>T (p.Lys1870Ter)
c.5599A>T (p.Lys1867Ter)
c.5614A>T (p.Lys1872Ter)
Xg.32343136T>CCA412665523DMDc.583A>G (p.Lys195Glu)
c.5737A>G (p.Lys1913Glu)
c.1705A>G (p.Lys569Glu)
c.5725A>G (p.Lys1909Glu)
n.336-126073A>G
c.394A>G (p.Lys132Glu)
c.5713A>G (p.Lys1905Glu)
c.5368A>G (p.Lys1790Glu)
c.1714A>G (p.Lys572Glu)
c.5608A>G (p.Lys1870Glu)
c.5599A>G (p.Lys1867Glu)
c.5614A>G (p.Lys1872Glu)
Xg.32343136T>GCA412665522DMDc.583A>C (p.Lys195Gln)
c.5737A>C (p.Lys1913Gln)
c.1705A>C (p.Lys569Gln)
c.5725A>C (p.Lys1909Gln)
n.336-126073A>C
c.394A>C (p.Lys132Gln)
c.5713A>C (p.Lys1905Gln)
c.5368A>C (p.Lys1790Gln)
c.1714A>C (p.Lys572Gln)
c.5608A>C (p.Lys1870Gln)
c.5599A>C (p.Lys1867Gln)
c.5614A>C (p.Lys1872Gln)
Xg.32343137T>ACA515713734DMDc.582A>T (p.Ile194=)
c.5736A>T (p.Ile1912=)
c.1704A>T (p.Ile568=)
c.5724A>T (p.Ile1908=)
n.336-126074A>T
c.393A>T (p.Ile131=)
c.5712A>T (p.Ile1904=)
c.5367A>T (p.Ile1789=)
c.1713A>T (p.Ile571=)
c.5607A>T (p.Ile1869=)
c.5598A>T (p.Ile1866=)
c.5613A>T (p.Ile1871=)
 ClinVar dbSNP gnomAD v4
Xg.32343137T>CCA412665525DMDc.582A>G (p.Ile194Met)
c.5736A>G (p.Ile1912Met)
c.1704A>G (p.Ile568Met)
c.5724A>G (p.Ile1908Met)
n.336-126074A>G
c.393A>G (p.Ile131Met)
c.5712A>G (p.Ile1904Met)
c.5367A>G (p.Ile1789Met)
c.1713A>G (p.Ile571Met)
c.5607A>G (p.Ile1869Met)
c.5598A>G (p.Ile1866Met)
c.5613A>G (p.Ile1871Met)
Xg.32343137T>GCA515713733DMDc.582A>C (p.Ile194=)
c.5736A>C (p.Ile1912=)
c.1704A>C (p.Ile568=)
c.5724A>C (p.Ile1908=)
n.336-126074A>C
c.393A>C (p.Ile131=)
c.5712A>C (p.Ile1904=)
c.5367A>C (p.Ile1789=)
c.1713A>C (p.Ile571=)
c.5607A>C (p.Ile1869=)
c.5598A>C (p.Ile1866=)
c.5613A>C (p.Ile1871=)
Xg.32343138A=CA2422760767DMDc.581T= (p.Ile194=)
c.5735T= (p.Ile1912=)
c.1703T= (p.Ile568=)
c.5723T= (p.Ile1908=)
n.336-126075T=
c.392T= (p.Ile131=)
c.5711T= (p.Ile1904=)
c.5366T= (p.Ile1789=)
c.1712T= (p.Ile571=)
c.5606T= (p.Ile1869=)
c.5597T= (p.Ile1866=)
c.5612T= (p.Ile1871=)
Xg.32343138A>CCA412665532DMDc.581T>G (p.Ile194Arg)
c.5735T>G (p.Ile1912Arg)
c.1703T>G (p.Ile568Arg)
c.5723T>G (p.Ile1908Arg)
n.336-126075T>G
c.392T>G (p.Ile131Arg)
c.5711T>G (p.Ile1904Arg)
c.5366T>G (p.Ile1789Arg)
c.1712T>G (p.Ile571Arg)
c.5606T>G (p.Ile1869Arg)
c.5597T>G (p.Ile1866Arg)
c.5612T>G (p.Ile1871Arg)
Xg.32343138A>GCA10378614DMDc.581T>C (p.Ile194Thr)
c.5735T>C (p.Ile1912Thr)
c.1703T>C (p.Ile568Thr)
c.5723T>C (p.Ile1908Thr)
n.336-126075T>C
c.392T>C (p.Ile131Thr)
c.5711T>C (p.Ile1904Thr)
c.5366T>C (p.Ile1789Thr)
c.1712T>C (p.Ile571Thr)
c.5606T>C (p.Ile1869Thr)
c.5597T>C (p.Ile1866Thr)
c.5612T>C (p.Ile1871Thr)
 ClinVar dbSNP ExAC gnomAD v2
Xg.32343138A>TCA412665530DMDc.581T>A (p.Ile194Lys)
c.5735T>A (p.Ile1912Lys)
c.1703T>A (p.Ile568Lys)
c.5723T>A (p.Ile1908Lys)
n.336-126075T>A
c.392T>A (p.Ile131Lys)
c.5711T>A (p.Ile1904Lys)
c.5366T>A (p.Ile1789Lys)
c.1712T>A (p.Ile571Lys)
c.5606T>A (p.Ile1869Lys)
c.5597T>A (p.Ile1866Lys)
c.5612T>A (p.Ile1871Lys)
Xg.32343139T>ACA412665534DMDc.580A>T (p.Ile194Leu)
c.5734A>T (p.Ile1912Leu)
c.1702A>T (p.Ile568Leu)
c.5722A>T (p.Ile1908Leu)
n.336-126076A>T
c.391A>T (p.Ile131Leu)
c.5710A>T (p.Ile1904Leu)
c.5365A>T (p.Ile1789Leu)
c.1711A>T (p.Ile571Leu)
c.5605A>T (p.Ile1869Leu)
c.5596A>T (p.Ile1866Leu)
c.5611A>T (p.Ile1871Leu)
Xg.32343139T>CCA412665537DMDc.580A>G (p.Ile194Val)
c.5734A>G (p.Ile1912Val)
c.1702A>G (p.Ile568Val)
c.5722A>G (p.Ile1908Val)
n.336-126076A>G
c.391A>G (p.Ile131Val)
c.5710A>G (p.Ile1904Val)
c.5365A>G (p.Ile1789Val)
c.1711A>G (p.Ile571Val)
c.5605A>G (p.Ile1869Val)
c.5596A>G (p.Ile1866Val)
c.5611A>G (p.Ile1871Val)
Xg.32343139T>GCA412665538DMDc.580A>C (p.Ile194Leu)
c.5734A>C (p.Ile1912Leu)
c.1702A>C (p.Ile568Leu)
c.5722A>C (p.Ile1908Leu)
n.336-126076A>C
c.391A>C (p.Ile131Leu)
c.5710A>C (p.Ile1904Leu)
c.5365A>C (p.Ile1789Leu)
c.1711A>C (p.Ile571Leu)
c.5605A>C (p.Ile1869Leu)
c.5596A>C (p.Ile1866Leu)
c.5611A>C (p.Ile1871Leu)
Xg.32343139_32343144delinsTTTTCCCA2422760768DMDc.575_580delinsGGAAAA (p.Arg192=)
c.5729_5734delinsGGAAAA (p.Arg1910=)
c.1697_1702delinsGGAAAA (p.Arg566=)
c.5717_5722delinsGGAAAA (p.Arg1906=)
n.336-126081_336-126076delinsGGAAAA
c.386_391delinsGGAAAA (p.Arg129=)
c.5705_5710delinsGGAAAA (p.Arg1902=)
c.5360_5365delinsGGAAAA (p.Arg1787=)
c.1706_1711delinsGGAAAA (p.Arg569=)
c.5600_5605delinsGGAAAA (p.Arg1867=)
c.5591_5596delinsGGAAAA (p.Arg1864=)
c.5606_5611delinsGGAAAA (p.Arg1869=)
Xg.32343140T>ACA412665539DMDc.579A>T (p.Lys193Asn)
c.5733A>T (p.Lys1911Asn)
c.1701A>T (p.Lys567Asn)
c.5721A>T (p.Lys1907Asn)
n.336-126077A>T
c.390A>T (p.Lys130Asn)
c.5709A>T (p.Lys1903Asn)
c.5364A>T (p.Lys1788Asn)
c.1710A>T (p.Lys570Asn)
c.5604A>T (p.Lys1868Asn)
c.5595A>T (p.Lys1865Asn)
c.5610A>T (p.Lys1870Asn)
Xg.32343140T>CCA515713735DMDc.579A>G (p.Lys193=)
c.5733A>G (p.Lys1911=)
c.1701A>G (p.Lys567=)
c.5721A>G (p.Lys1907=)
n.336-126077A>G
c.390A>G (p.Lys130=)
c.5709A>G (p.Lys1903=)
c.5364A>G (p.Lys1788=)
c.1710A>G (p.Lys570=)
c.5604A>G (p.Lys1868=)
c.5595A>G (p.Lys1865=)
c.5610A>G (p.Lys1870=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32343140T>GCA412665540DMDc.579A>C (p.Lys193Asn)
c.5733A>C (p.Lys1911Asn)
c.1701A>C (p.Lys567Asn)
c.5721A>C (p.Lys1907Asn)
n.336-126077A>C
c.390A>C (p.Lys130Asn)
c.5709A>C (p.Lys1903Asn)
c.5364A>C (p.Lys1788Asn)
c.1710A>C (p.Lys570Asn)
c.5604A>C (p.Lys1868Asn)
c.5595A>C (p.Lys1865Asn)
c.5610A>C (p.Lys1870Asn)
Xg.32343140T=CA2422760769DMDc.579A= (p.Lys193=)
c.5733A= (p.Lys1911=)
c.1701A= (p.Lys567=)
c.5721A= (p.Lys1907=)
n.336-126077A=
c.390A= (p.Lys130=)
c.5709A= (p.Lys1903=)
c.5364A= (p.Lys1788=)
c.1710A= (p.Lys570=)
c.5604A= (p.Lys1868=)
c.5595A= (p.Lys1865=)
c.5610A= (p.Lys1870=)
Xg.32343144_32343148delCA913191127DMDc.575_579del (p.Arg192AsnfsTer5)
c.5729_5733del (p.Arg1910AsnfsTer5)
c.1697_1701del (p.Arg566AsnfsTer5)
c.5717_5721del (p.Arg1906AsnfsTer5)
n.336-126081_336-126077del
c.386_390del (p.Arg129AsnfsTer?)
c.5705_5709del (p.Arg1902AsnfsTer5)
c.5360_5364del (p.Arg1787AsnfsTer5)
c.1706_1710del (p.Arg569AsnfsTer5)
c.5600_5604del (p.Arg1867AsnfsTer5)
c.5591_5595del (p.Arg1864AsnfsTer5)
c.5606_5610del (p.Arg1869AsnfsTer5)
c.5729_5733del (p.Arg1910AsnfsTer?)
 ClinVar dbSNP
Xg.32343141T>ACA412665544DMDc.578A>T (p.Lys193Ile)
c.5732A>T (p.Lys1911Ile)
c.1700A>T (p.Lys567Ile)
c.5720A>T (p.Lys1907Ile)
n.336-126078A>T
c.389A>T (p.Lys130Ile)
c.5708A>T (p.Lys1903Ile)
c.5363A>T (p.Lys1788Ile)
c.1709A>T (p.Lys570Ile)
c.5603A>T (p.Lys1868Ile)
c.5594A>T (p.Lys1865Ile)
c.5609A>T (p.Lys1870Ile)
Xg.32343141T>CCA412665546DMDc.578A>G (p.Lys193Arg)
c.5732A>G (p.Lys1911Arg)
c.1700A>G (p.Lys567Arg)
c.5720A>G (p.Lys1907Arg)
n.336-126078A>G
c.389A>G (p.Lys130Arg)
c.5708A>G (p.Lys1903Arg)
c.5363A>G (p.Lys1788Arg)
c.1709A>G (p.Lys570Arg)
c.5603A>G (p.Lys1868Arg)
c.5594A>G (p.Lys1865Arg)
c.5609A>G (p.Lys1870Arg)
Xg.32343141T>GCA412665548DMDc.578A>C (p.Lys193Thr)
c.5732A>C (p.Lys1911Thr)
c.1700A>C (p.Lys567Thr)
c.5720A>C (p.Lys1907Thr)
n.336-126078A>C
c.389A>C (p.Lys130Thr)
c.5708A>C (p.Lys1903Thr)
c.5363A>C (p.Lys1788Thr)
c.1709A>C (p.Lys570Thr)
c.5603A>C (p.Lys1868Thr)
c.5594A>C (p.Lys1865Thr)
c.5609A>C (p.Lys1870Thr)
Xg.32343142T>ACA412665557DMDc.577A>T (p.Lys193Ter)
c.5731A>T (p.Lys1911Ter)
c.1699A>T (p.Lys567Ter)
c.5719A>T (p.Lys1907Ter)
n.336-126079A>T
c.388A>T (p.Lys130Ter)
c.5707A>T (p.Lys1903Ter)
c.5362A>T (p.Lys1788Ter)
c.1708A>T (p.Lys570Ter)
c.5602A>T (p.Lys1868Ter)
c.5593A>T (p.Lys1865Ter)
c.5608A>T (p.Lys1870Ter)
 dbSNP
Xg.32343142T>CCA412665552DMDc.577A>G (p.Lys193Glu)
c.5731A>G (p.Lys1911Glu)
c.1699A>G (p.Lys567Glu)
c.5719A>G (p.Lys1907Glu)
n.336-126079A>G
c.388A>G (p.Lys130Glu)
c.5707A>G (p.Lys1903Glu)
c.5362A>G (p.Lys1788Glu)
c.1708A>G (p.Lys570Glu)
c.5602A>G (p.Lys1868Glu)
c.5593A>G (p.Lys1865Glu)
c.5608A>G (p.Lys1870Glu)
Xg.32343142T>GCA412665555DMDc.577A>C (p.Lys193Gln)
c.5731A>C (p.Lys1911Gln)
c.1699A>C (p.Lys567Gln)
c.5719A>C (p.Lys1907Gln)
n.336-126079A>C
c.388A>C (p.Lys130Gln)
c.5707A>C (p.Lys1903Gln)
c.5362A>C (p.Lys1788Gln)
c.1708A>C (p.Lys570Gln)
c.5602A>C (p.Lys1868Gln)
c.5593A>C (p.Lys1865Gln)
c.5608A>C (p.Lys1870Gln)
Xg.32343143C>ACA412665560DMDc.576G>T (p.Arg192Ser)
c.5730G>T (p.Arg1910Ser)
c.1698G>T (p.Arg566Ser)
c.5718G>T (p.Arg1906Ser)
n.336-126080G>T
c.387G>T (p.Arg129Ser)
c.5706G>T (p.Arg1902Ser)
c.5361G>T (p.Arg1787Ser)
c.1707G>T (p.Arg569Ser)
c.5601G>T (p.Arg1867Ser)
c.5592G>T (p.Arg1864Ser)
c.5607G>T (p.Arg1869Ser)
 dbSNP
Xg.32343143C=CA2422760770DMDc.576G= (p.Arg192=)
c.5730G= (p.Arg1910=)
c.1698G= (p.Arg566=)
c.5718G= (p.Arg1906=)
n.336-126080G=
c.387G= (p.Arg129=)
c.5706G= (p.Arg1902=)
c.5361G= (p.Arg1787=)
c.1707G= (p.Arg569=)
c.5601G= (p.Arg1867=)
c.5592G= (p.Arg1864=)
c.5607G= (p.Arg1869=)
Xg.32343143C>GCA412665563DMDc.576G>C (p.Arg192Ser)
c.5730G>C (p.Arg1910Ser)
c.1698G>C (p.Arg566Ser)
c.5718G>C (p.Arg1906Ser)
n.336-126080G>C
c.387G>C (p.Arg129Ser)
c.5706G>C (p.Arg1902Ser)
c.5361G>C (p.Arg1787Ser)
c.1707G>C (p.Arg569Ser)
c.5601G>C (p.Arg1867Ser)
c.5592G>C (p.Arg1864Ser)
c.5607G>C (p.Arg1869Ser)
Xg.32343143C>TCA515713736DMDc.576G>A (p.Arg192=)
c.5730G>A (p.Arg1910=)
c.1698G>A (p.Arg566=)
c.5718G>A (p.Arg1906=)
n.336-126080G>A
c.387G>A (p.Arg129=)
c.5706G>A (p.Arg1902=)
c.5361G>A (p.Arg1787=)
c.1707G>A (p.Arg569=)
c.5601G>A (p.Arg1867=)
c.5592G>A (p.Arg1864=)
c.5607G>A (p.Arg1869=)
 dbSNP
Xg.32343144C>ACA412665566DMDc.575G>T (p.Arg192Met)
c.5729G>T (p.Arg1910Met)
c.1697G>T (p.Arg566Met)
c.5717G>T (p.Arg1906Met)
n.336-126081G>T
c.386G>T (p.Arg129Met)
c.5705G>T (p.Arg1902Met)
c.5360G>T (p.Arg1787Met)
c.1706G>T (p.Arg569Met)
c.5600G>T (p.Arg1867Met)
c.5591G>T (p.Arg1864Met)
c.5606G>T (p.Arg1869Met)
Xg.32343144C=CA2422760771DMDc.575G= (p.Arg192=)
c.5729G= (p.Arg1910=)
c.1697G= (p.Arg566=)
c.5717G= (p.Arg1906=)
n.336-126081G=
c.386G= (p.Arg129=)
c.5705G= (p.Arg1902=)
c.5360G= (p.Arg1787=)
c.1706G= (p.Arg569=)
c.5600G= (p.Arg1867=)
c.5591G= (p.Arg1864=)
c.5606G= (p.Arg1869=)
Xg.32343144C>GCA412665568DMDc.575G>C (p.Arg192Thr)
c.5729G>C (p.Arg1910Thr)
c.1697G>C (p.Arg566Thr)
c.5717G>C (p.Arg1906Thr)
n.336-126081G>C
c.386G>C (p.Arg129Thr)
c.5705G>C (p.Arg1902Thr)
c.5360G>C (p.Arg1787Thr)
c.1706G>C (p.Arg569Thr)
c.5600G>C (p.Arg1867Thr)
c.5591G>C (p.Arg1864Thr)
c.5606G>C (p.Arg1869Thr)
Xg.32343144C>TCA412665571DMDc.575G>A (p.Arg192Lys)
c.5729G>A (p.Arg1910Lys)
c.1697G>A (p.Arg566Lys)
c.5717G>A (p.Arg1906Lys)
n.336-126081G>A
c.386G>A (p.Arg129Lys)
c.5705G>A (p.Arg1902Lys)
c.5360G>A (p.Arg1787Lys)
c.1706G>A (p.Arg569Lys)
c.5600G>A (p.Arg1867Lys)
c.5591G>A (p.Arg1864Lys)
c.5606G>A (p.Arg1869Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343145T>ACA412665575DMDc.574A>T (p.Arg192Trp)
c.5728A>T (p.Arg1910Trp)
c.1696A>T (p.Arg566Trp)
c.5716A>T (p.Arg1906Trp)
n.336-126082A>T
c.385A>T (p.Arg129Trp)
c.5704A>T (p.Arg1902Trp)
c.5359A>T (p.Arg1787Trp)
c.1705A>T (p.Arg569Trp)
c.5599A>T (p.Arg1867Trp)
c.5590A>T (p.Arg1864Trp)
c.5605A>T (p.Arg1869Trp)
Xg.32343145T>CCA412665577DMDc.574A>G (p.Arg192Gly)
c.5728A>G (p.Arg1910Gly)
c.1696A>G (p.Arg566Gly)
c.5716A>G (p.Arg1906Gly)
n.336-126082A>G
c.385A>G (p.Arg129Gly)
c.5704A>G (p.Arg1902Gly)
c.5359A>G (p.Arg1787Gly)
c.1705A>G (p.Arg569Gly)
c.5599A>G (p.Arg1867Gly)
c.5590A>G (p.Arg1864Gly)
c.5605A>G (p.Arg1869Gly)
Xg.32343145T>GCA10378615DMDc.574A>C (p.Arg192=)
c.5728A>C (p.Arg1910=)
c.1696A>C (p.Arg566=)
c.5716A>C (p.Arg1906=)
n.336-126082A>C
c.385A>C (p.Arg129=)
c.5704A>C (p.Arg1902=)
c.5359A>C (p.Arg1787=)
c.1705A>C (p.Arg569=)
c.5599A>C (p.Arg1867=)
c.5590A>C (p.Arg1864=)
c.5605A>C (p.Arg1869=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343145T=CA2422760772DMDc.574A= (p.Arg192=)
c.5728A= (p.Arg1910=)
c.1696A= (p.Arg566=)
c.5716A= (p.Arg1906=)
n.336-126082A=
c.385A= (p.Arg129=)
c.5704A= (p.Arg1902=)
c.5359A= (p.Arg1787=)
c.1705A= (p.Arg569=)
c.5599A= (p.Arg1867=)
c.5590A= (p.Arg1864=)
c.5605A= (p.Arg1869=)
Xg.32343146T>ACA412665584DMDc.573A>T (p.Glu191Asp)
c.5727A>T (p.Glu1909Asp)
c.1695A>T (p.Glu565Asp)
c.5715A>T (p.Glu1905Asp)
n.336-126083A>T
c.384A>T (p.Glu128Asp)
c.5703A>T (p.Glu1901Asp)
c.5358A>T (p.Glu1786Asp)
c.1704A>T (p.Glu568Asp)
c.5598A>T (p.Glu1866Asp)
c.5589A>T (p.Glu1863Asp)
c.5604A>T (p.Glu1868Asp)
Xg.32343146T>CCA515713737DMDc.573A>G (p.Glu191=)
c.5727A>G (p.Glu1909=)
c.1695A>G (p.Glu565=)
c.5715A>G (p.Glu1905=)
n.336-126083A>G
c.384A>G (p.Glu128=)
c.5703A>G (p.Glu1901=)
c.5358A>G (p.Glu1786=)
c.1704A>G (p.Glu568=)
c.5598A>G (p.Glu1866=)
c.5589A>G (p.Glu1863=)
c.5604A>G (p.Glu1868=)
Xg.32343146T>GCA412665586DMDc.573A>C (p.Glu191Asp)
c.5727A>C (p.Glu1909Asp)
c.1695A>C (p.Glu565Asp)
c.5715A>C (p.Glu1905Asp)
n.336-126083A>C
c.384A>C (p.Glu128Asp)
c.5703A>C (p.Glu1901Asp)
c.5358A>C (p.Glu1786Asp)
c.1704A>C (p.Glu568Asp)
c.5598A>C (p.Glu1866Asp)
c.5589A>C (p.Glu1863Asp)
c.5604A>C (p.Glu1868Asp)
Xg.32343147T>ACA412665591DMDc.572A>T (p.Glu191Val)
c.5726A>T (p.Glu1909Val)
c.1694A>T (p.Glu565Val)
c.5714A>T (p.Glu1905Val)
n.336-126084A>T
c.383A>T (p.Glu128Val)
c.5702A>T (p.Glu1901Val)
c.5357A>T (p.Glu1786Val)
c.1703A>T (p.Glu568Val)
c.5597A>T (p.Glu1866Val)
c.5588A>T (p.Glu1863Val)
c.5603A>T (p.Glu1868Val)
Xg.32343147T>CCA412665595DMDc.572A>G (p.Glu191Gly)
c.5726A>G (p.Glu1909Gly)
c.1694A>G (p.Glu565Gly)
c.5714A>G (p.Glu1905Gly)
n.336-126084A>G
c.383A>G (p.Glu128Gly)
c.5702A>G (p.Glu1901Gly)
c.5357A>G (p.Glu1786Gly)
c.1703A>G (p.Glu568Gly)
c.5597A>G (p.Glu1866Gly)
c.5588A>G (p.Glu1863Gly)
c.5603A>G (p.Glu1868Gly)
Xg.32343147T>GCA412665589DMDc.572A>C (p.Glu191Ala)
c.5726A>C (p.Glu1909Ala)
c.1694A>C (p.Glu565Ala)
c.5714A>C (p.Glu1905Ala)
n.336-126084A>C
c.383A>C (p.Glu128Ala)
c.5702A>C (p.Glu1901Ala)
c.5357A>C (p.Glu1786Ala)
c.1703A>C (p.Glu568Ala)
c.5597A>C (p.Glu1866Ala)
c.5588A>C (p.Glu1863Ala)
c.5603A>C (p.Glu1868Ala)
Xg.32343148C>ACA412665598DMDc.571G>T (p.Glu191Ter)
c.5725G>T (p.Glu1909Ter)
c.1693G>T (p.Glu565Ter)
c.5713G>T (p.Glu1905Ter)
n.336-126085G>T
c.382G>T (p.Glu128Ter)
c.5701G>T (p.Glu1901Ter)
c.5356G>T (p.Glu1786Ter)
c.1702G>T (p.Glu568Ter)
c.5596G>T (p.Glu1866Ter)
c.5587G>T (p.Glu1863Ter)
c.5602G>T (p.Glu1868Ter)
 dbSNP
Xg.32343148C>GCA412665600DMDc.571G>C (p.Glu191Gln)
c.5725G>C (p.Glu1909Gln)
c.1693G>C (p.Glu565Gln)
c.5713G>C (p.Glu1905Gln)
n.336-126085G>C
c.382G>C (p.Glu128Gln)
c.5701G>C (p.Glu1901Gln)
c.5356G>C (p.Glu1786Gln)
c.1702G>C (p.Glu568Gln)
c.5596G>C (p.Glu1866Gln)
c.5587G>C (p.Glu1863Gln)
c.5602G>C (p.Glu1868Gln)
Xg.32343148C>TCA412665603DMDc.571G>A (p.Glu191Lys)
c.5725G>A (p.Glu1909Lys)
c.1693G>A (p.Glu565Lys)
c.5713G>A (p.Glu1905Lys)
n.336-126085G>A
c.382G>A (p.Glu128Lys)
c.5701G>A (p.Glu1901Lys)
c.5356G>A (p.Glu1786Lys)
c.1702G>A (p.Glu568Lys)
c.5596G>A (p.Glu1866Lys)
c.5587G>A (p.Glu1863Lys)
c.5602G>A (p.Glu1868Lys)
 gnomAD v4
Xg.32343148_32343152delinsATTTTCCTACCA2695232737DMDc.567_571delinsGTAGGAAAAT (p.Asp190Ter)
c.5721_5725delinsGTAGGAAAAT (p.Asp1908Ter)
c.1689_1693delinsGTAGGAAAAT (p.Asp564Ter)
c.5709_5713delinsGTAGGAAAAT (p.Asp1904Ter)
n.336-126089_336-126085delinsGTAGGAAAAT
c.378_382delinsGTAGGAAAAT (p.Asp127Ter)
c.5697_5701delinsGTAGGAAAAT (p.Asp1900Ter)
c.5352_5356delinsGTAGGAAAAT (p.Asp1785Ter)
c.1698_1702delinsGTAGGAAAAT (p.Asp567Ter)
c.5592_5596delinsGTAGGAAAAT (p.Asp1865Ter)
c.5583_5587delinsGTAGGAAAAT (p.Asp1862Ter)
c.5598_5602delinsGTAGGAAAAT (p.Asp1867Ter)
Xg.32343149A=CA2422760773DMDc.570T= (p.Asp190=)
c.5724T= (p.Asp1908=)
c.1692T= (p.Asp564=)
c.5712T= (p.Asp1904=)
n.336-126086T=
c.381T= (p.Asp127=)
c.5700T= (p.Asp1900=)
c.5355T= (p.Asp1785=)
c.1701T= (p.Asp567=)
c.5595T= (p.Asp1865=)
c.5586T= (p.Asp1862=)
c.5601T= (p.Asp1867=)
Xg.32343149A>CCA412665605DMDc.570T>G (p.Asp190Glu)
c.5724T>G (p.Asp1908Glu)
c.1692T>G (p.Asp564Glu)
c.5712T>G (p.Asp1904Glu)
n.336-126086T>G
c.381T>G (p.Asp127Glu)
c.5700T>G (p.Asp1900Glu)
c.5355T>G (p.Asp1785Glu)
c.1701T>G (p.Asp567Glu)
c.5595T>G (p.Asp1865Glu)
c.5586T>G (p.Asp1862Glu)
c.5601T>G (p.Asp1867Glu)
Xg.32343149A>GCA285583DMDc.570T>C (p.Asp190=)
c.5724T>C (p.Asp1908=)
c.1692T>C (p.Asp564=)
c.5712T>C (p.Asp1904=)
n.336-126086T>C
c.381T>C (p.Asp127=)
c.5700T>C (p.Asp1900=)
c.5355T>C (p.Asp1785=)
c.1701T>C (p.Asp567=)
c.5595T>C (p.Asp1865=)
c.5586T>C (p.Asp1862=)
c.5601T>C (p.Asp1867=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343149A>TCA412665609DMDc.570T>A (p.Asp190Glu)
c.5724T>A (p.Asp1908Glu)
c.1692T>A (p.Asp564Glu)
c.5712T>A (p.Asp1904Glu)
n.336-126086T>A
c.381T>A (p.Asp127Glu)
c.5700T>A (p.Asp1900Glu)
c.5355T>A (p.Asp1785Glu)
c.1701T>A (p.Asp567Glu)
c.5595T>A (p.Asp1865Glu)
c.5586T>A (p.Asp1862Glu)
c.5601T>A (p.Asp1867Glu)
Xg.32343150T>ACA202875DMDc.569A>T (p.Asp190Val)
c.5723A>T (p.Asp1908Val)
c.1691A>T (p.Asp564Val)
c.5711A>T (p.Asp1904Val)
n.336-126087A>T
c.380A>T (p.Asp127Val)
c.5699A>T (p.Asp1900Val)
c.5354A>T (p.Asp1785Val)
c.1700A>T (p.Asp567Val)
c.5594A>T (p.Asp1865Val)
c.5585A>T (p.Asp1862Val)
c.5600A>T (p.Asp1867Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343150T>CCA412665612DMDc.569A>G (p.Asp190Gly)
c.5723A>G (p.Asp1908Gly)
c.1691A>G (p.Asp564Gly)
c.5711A>G (p.Asp1904Gly)
n.336-126087A>G
c.380A>G (p.Asp127Gly)
c.5699A>G (p.Asp1900Gly)
c.5354A>G (p.Asp1785Gly)
c.1700A>G (p.Asp567Gly)
c.5594A>G (p.Asp1865Gly)
c.5585A>G (p.Asp1862Gly)
c.5600A>G (p.Asp1867Gly)
Xg.32343150T>GCA412665615DMDc.569A>C (p.Asp190Ala)
c.5723A>C (p.Asp1908Ala)
c.1691A>C (p.Asp564Ala)
c.5711A>C (p.Asp1904Ala)
n.336-126087A>C
c.380A>C (p.Asp127Ala)
c.5699A>C (p.Asp1900Ala)
c.5354A>C (p.Asp1785Ala)
c.1700A>C (p.Asp567Ala)
c.5594A>C (p.Asp1865Ala)
c.5585A>C (p.Asp1862Ala)
c.5600A>C (p.Asp1867Ala)
Xg.32343150T=CA2422760774DMDc.569A= (p.Asp190=)
c.5723A= (p.Asp1908=)
c.1691A= (p.Asp564=)
c.5711A= (p.Asp1904=)
n.336-126087A=
c.380A= (p.Asp127=)
c.5699A= (p.Asp1900=)
c.5354A= (p.Asp1785=)
c.1700A= (p.Asp567=)
c.5594A= (p.Asp1865=)
c.5585A= (p.Asp1862=)
c.5600A= (p.Asp1867=)
Xg.32343153_32343154delCA2579579438DMDc.568_569del (p.Asp190Ter)
c.5722_5723del (p.Asp1908Ter)
c.1690_1691del (p.Asp564Ter)
c.5710_5711del (p.Asp1904Ter)
n.336-126088_336-126087del
c.379_380del (p.Asp127Ter)
c.5698_5699del (p.Asp1900Ter)
c.5353_5354del (p.Asp1785Ter)
c.1699_1700del (p.Asp567Ter)
c.5593_5594del (p.Asp1865Ter)
c.5584_5585del (p.Asp1862Ter)
c.5599_5600del (p.Asp1867Ter)
Xg.32343151C>ACA412665616DMDc.568G>T (p.Asp190Tyr)
c.5722G>T (p.Asp1908Tyr)
c.1690G>T (p.Asp564Tyr)
c.5710G>T (p.Asp1904Tyr)
n.336-126088G>T
c.379G>T (p.Asp127Tyr)
c.5698G>T (p.Asp1900Tyr)
c.5353G>T (p.Asp1785Tyr)
c.1699G>T (p.Asp567Tyr)
c.5593G>T (p.Asp1865Tyr)
c.5584G>T (p.Asp1862Tyr)
c.5599G>T (p.Asp1867Tyr)
Xg.32343151C>GCA412665617DMDc.568G>C (p.Asp190His)
c.5722G>C (p.Asp1908His)
c.1690G>C (p.Asp564His)
c.5710G>C (p.Asp1904His)
n.336-126088G>C
c.379G>C (p.Asp127His)
c.5698G>C (p.Asp1900His)
c.5353G>C (p.Asp1785His)
c.1699G>C (p.Asp567His)
c.5593G>C (p.Asp1865His)
c.5584G>C (p.Asp1862His)
c.5599G>C (p.Asp1867His)
 gnomAD v4
Xg.32343151C>TCA412665618DMDc.568G>A (p.Asp190Asn)
c.5722G>A (p.Asp1908Asn)
c.1690G>A (p.Asp564Asn)
c.5710G>A (p.Asp1904Asn)
n.336-126088G>A
c.379G>A (p.Asp127Asn)
c.5698G>A (p.Asp1900Asn)
c.5353G>A (p.Asp1785Asn)
c.1699G>A (p.Asp567Asn)
c.5593G>A (p.Asp1865Asn)
c.5584G>A (p.Asp1862Asn)
c.5599G>A (p.Asp1867Asn)
Xg.32343152T>ACA412665621DMDc.567A>T (p.Arg189Ser)
c.5721A>T (p.Arg1907Ser)
c.1689A>T (p.Arg563Ser)
c.5709A>T (p.Arg1903Ser)
n.336-126089A>T
c.378A>T (p.Arg126Ser)
c.5697A>T (p.Arg1899Ser)
c.5352A>T (p.Arg1784Ser)
c.1698A>T (p.Arg566Ser)
c.5592A>T (p.Arg1864Ser)
c.5583A>T (p.Arg1861Ser)
c.5598A>T (p.Arg1866Ser)
 dbSNP
Xg.32343152T>CCA515713738DMDc.567A>G (p.Arg189=)
c.5721A>G (p.Arg1907=)
c.1689A>G (p.Arg563=)
c.5709A>G (p.Arg1903=)
n.336-126089A>G
c.378A>G (p.Arg126=)
c.5697A>G (p.Arg1899=)
c.5352A>G (p.Arg1784=)
c.1698A>G (p.Arg566=)
c.5592A>G (p.Arg1864=)
c.5583A>G (p.Arg1861=)
c.5598A>G (p.Arg1866=)
Xg.32343152T>GCA412665620DMDc.567A>C (p.Arg189Ser)
c.5721A>C (p.Arg1907Ser)
c.1689A>C (p.Arg563Ser)
c.5709A>C (p.Arg1903Ser)
n.336-126089A>C
c.378A>C (p.Arg126Ser)
c.5697A>C (p.Arg1899Ser)
c.5352A>C (p.Arg1784Ser)
c.1698A>C (p.Arg566Ser)
c.5592A>C (p.Arg1864Ser)
c.5583A>C (p.Arg1861Ser)
c.5598A>C (p.Arg1866Ser)
Xg.32343152T=CA2422760775DMDc.567A= (p.Arg189=)
c.5721A= (p.Arg1907=)
c.1689A= (p.Arg563=)
c.5709A= (p.Arg1903=)
n.336-126089A=
c.378A= (p.Arg126=)
c.5697A= (p.Arg1899=)
c.5352A= (p.Arg1784=)
c.1698A= (p.Arg566=)
c.5592A= (p.Arg1864=)
c.5583A= (p.Arg1861=)
c.5598A= (p.Arg1866=)
Xg.32343153C>ACA412665623DMDc.566G>T (p.Arg189Ile)
c.5720G>T (p.Arg1907Ile)
c.1688G>T (p.Arg563Ile)
c.5708G>T (p.Arg1903Ile)
n.336-126090G>T
c.377G>T (p.Arg126Ile)
c.5696G>T (p.Arg1899Ile)
c.5351G>T (p.Arg1784Ile)
c.1697G>T (p.Arg566Ile)
c.5591G>T (p.Arg1864Ile)
c.5582G>T (p.Arg1861Ile)
c.5597G>T (p.Arg1866Ile)
Xg.32343153C>GCA412665624DMDc.566G>C (p.Arg189Thr)
c.5720G>C (p.Arg1907Thr)
c.1688G>C (p.Arg563Thr)
c.5708G>C (p.Arg1903Thr)
n.336-126090G>C
c.377G>C (p.Arg126Thr)
c.5696G>C (p.Arg1899Thr)
c.5351G>C (p.Arg1784Thr)
c.1697G>C (p.Arg566Thr)
c.5591G>C (p.Arg1864Thr)
c.5582G>C (p.Arg1861Thr)
c.5597G>C (p.Arg1866Thr)
Xg.32343153C>TCA412665625DMDc.566G>A (p.Arg189Lys)
c.5720G>A (p.Arg1907Lys)
c.1688G>A (p.Arg563Lys)
c.5708G>A (p.Arg1903Lys)
n.336-126090G>A
c.377G>A (p.Arg126Lys)
c.5696G>A (p.Arg1899Lys)
c.5351G>A (p.Arg1784Lys)
c.1697G>A (p.Arg566Lys)
c.5591G>A (p.Arg1864Lys)
c.5582G>A (p.Arg1861Lys)
c.5597G>A (p.Arg1866Lys)
Xg.32343154T>ACA412665626DMDc.565A>T (p.Arg189Ter)
c.5719A>T (p.Arg1907Ter)
c.1687A>T (p.Arg563Ter)
c.5707A>T (p.Arg1903Ter)
n.336-126091A>T
c.376A>T (p.Arg126Ter)
c.5695A>T (p.Arg1899Ter)
c.5350A>T (p.Arg1784Ter)
c.1696A>T (p.Arg566Ter)
c.5590A>T (p.Arg1864Ter)
c.5581A>T (p.Arg1861Ter)
c.5596A>T (p.Arg1866Ter)
Xg.32343154T>CCA412665628DMDc.565A>G (p.Arg189Gly)
c.5719A>G (p.Arg1907Gly)
c.1687A>G (p.Arg563Gly)
c.5707A>G (p.Arg1903Gly)
n.336-126091A>G
c.376A>G (p.Arg126Gly)
c.5695A>G (p.Arg1899Gly)
c.5350A>G (p.Arg1784Gly)
c.1696A>G (p.Arg566Gly)
c.5590A>G (p.Arg1864Gly)
c.5581A>G (p.Arg1861Gly)
c.5596A>G (p.Arg1866Gly)
 dbSNP
Xg.32343154T>GCA515713739DMDc.565A>C (p.Arg189=)
c.5719A>C (p.Arg1907=)
c.1687A>C (p.Arg563=)
c.5707A>C (p.Arg1903=)
n.336-126091A>C
c.376A>C (p.Arg126=)
c.5695A>C (p.Arg1899=)
c.5350A>C (p.Arg1784=)
c.1696A>C (p.Arg566=)
c.5590A>C (p.Arg1864=)
c.5581A>C (p.Arg1861=)
c.5596A>C (p.Arg1866=)
Xg.32343155G>ACA515713740DMDc.564C>T (p.Pro188=)
c.5718C>T (p.Pro1906=)
c.1686C>T (p.Pro562=)
c.5706C>T (p.Pro1902=)
n.336-126092C>T
c.375C>T (p.Pro125=)
c.5694C>T (p.Pro1898=)
c.5349C>T (p.Pro1783=)
c.1695C>T (p.Pro565=)
c.5589C>T (p.Pro1863=)
c.5580C>T (p.Pro1860=)
c.5595C>T (p.Pro1865=)
 gnomAD v4
Xg.32343155G>CCA515713741DMDc.564C>G (p.Pro188=)
c.5718C>G (p.Pro1906=)
c.1686C>G (p.Pro562=)
c.5706C>G (p.Pro1902=)
n.336-126092C>G
c.375C>G (p.Pro125=)
c.5694C>G (p.Pro1898=)
c.5349C>G (p.Pro1783=)
c.1695C>G (p.Pro565=)
c.5589C>G (p.Pro1863=)
c.5580C>G (p.Pro1860=)
c.5595C>G (p.Pro1865=)
Xg.32343155G>TCA515713742DMDc.564C>A (p.Pro188=)
c.5718C>A (p.Pro1906=)
c.1686C>A (p.Pro562=)
c.5706C>A (p.Pro1902=)
n.336-126092C>A
c.375C>A (p.Pro125=)
c.5694C>A (p.Pro1898=)
c.5349C>A (p.Pro1783=)
c.1695C>A (p.Pro565=)
c.5589C>A (p.Pro1863=)
c.5580C>A (p.Pro1860=)
c.5595C>A (p.Pro1865=)
Xg.32343156G>ACA412665630DMDc.563C>T (p.Pro188Leu)
c.5717C>T (p.Pro1906Leu)
c.1685C>T (p.Pro562Leu)
c.5705C>T (p.Pro1902Leu)
n.336-126093C>T
c.374C>T (p.Pro125Leu)
c.5693C>T (p.Pro1898Leu)
c.5348C>T (p.Pro1783Leu)
c.1694C>T (p.Pro565Leu)
c.5588C>T (p.Pro1863Leu)
c.5579C>T (p.Pro1860Leu)
c.5594C>T (p.Pro1865Leu)
 gnomAD v4
Xg.32343156G>CCA412665631DMDc.563C>G (p.Pro188Arg)
c.5717C>G (p.Pro1906Arg)
c.1685C>G (p.Pro562Arg)
c.5705C>G (p.Pro1902Arg)
n.336-126093C>G
c.374C>G (p.Pro125Arg)
c.5693C>G (p.Pro1898Arg)
c.5348C>G (p.Pro1783Arg)
c.1694C>G (p.Pro565Arg)
c.5588C>G (p.Pro1863Arg)
c.5579C>G (p.Pro1860Arg)
c.5594C>G (p.Pro1865Arg)
Xg.32343156G>TCA412665635DMDc.563C>A (p.Pro188His)
c.5717C>A (p.Pro1906His)
c.1685C>A (p.Pro562His)
c.5705C>A (p.Pro1902His)
n.336-126093C>A
c.374C>A (p.Pro125His)
c.5693C>A (p.Pro1898His)
c.5348C>A (p.Pro1783His)
c.1694C>A (p.Pro565His)
c.5588C>A (p.Pro1863His)
c.5579C>A (p.Pro1860His)
c.5594C>A (p.Pro1865His)
Xg.32343157G>ACA412665640DMDc.562C>T (p.Pro188Ser)
c.5716C>T (p.Pro1906Ser)
c.1684C>T (p.Pro562Ser)
c.5704C>T (p.Pro1902Ser)
n.336-126094C>T
c.373C>T (p.Pro125Ser)
c.5692C>T (p.Pro1898Ser)
c.5347C>T (p.Pro1783Ser)
c.1693C>T (p.Pro565Ser)
c.5587C>T (p.Pro1863Ser)
c.5578C>T (p.Pro1860Ser)
c.5593C>T (p.Pro1865Ser)
 gnomAD v4
Xg.32343157G>CCA412665649DMDc.562C>G (p.Pro188Ala)
c.5716C>G (p.Pro1906Ala)
c.1684C>G (p.Pro562Ala)
c.5704C>G (p.Pro1902Ala)
n.336-126094C>G
c.373C>G (p.Pro125Ala)
c.5692C>G (p.Pro1898Ala)
c.5347C>G (p.Pro1783Ala)
c.1693C>G (p.Pro565Ala)
c.5587C>G (p.Pro1863Ala)
c.5578C>G (p.Pro1860Ala)
c.5593C>G (p.Pro1865Ala)
Xg.32343157G>TCA412665651DMDc.562C>A (p.Pro188Thr)
c.5716C>A (p.Pro1906Thr)
c.1684C>A (p.Pro562Thr)
c.5704C>A (p.Pro1902Thr)
n.336-126094C>A
c.373C>A (p.Pro125Thr)
c.5692C>A (p.Pro1898Thr)
c.5347C>A (p.Pro1783Thr)
c.1693C>A (p.Pro565Thr)
c.5587C>A (p.Pro1863Thr)
c.5578C>A (p.Pro1860Thr)
c.5593C>A (p.Pro1865Thr)
 gnomAD v4
Xg.32343158C>ACA412665654DMDc.561G>T (p.Glu187Asp)
c.5715G>T (p.Glu1905Asp)
c.1683G>T (p.Glu561Asp)
c.5703G>T (p.Glu1901Asp)
n.336-126095G>T
c.372G>T (p.Glu124Asp)
c.5691G>T (p.Glu1897Asp)
c.5346G>T (p.Glu1782Asp)
c.1692G>T (p.Glu564Asp)
c.5586G>T (p.Glu1862Asp)
c.5577G>T (p.Glu1859Asp)
c.5592G>T (p.Glu1864Asp)
Xg.32343158C=CA2422760776DMDc.561G= (p.Glu187=)
c.5715G= (p.Glu1905=)
c.1683G= (p.Glu561=)
c.5703G= (p.Glu1901=)
n.336-126095G=
c.372G= (p.Glu124=)
c.5691G= (p.Glu1897=)
c.5346G= (p.Glu1782=)
c.1692G= (p.Glu564=)
c.5586G= (p.Glu1862=)
c.5577G= (p.Glu1859=)
c.5592G= (p.Glu1864=)
Xg.32343158C>GCA412665655DMDc.561G>C (p.Glu187Asp)
c.5715G>C (p.Glu1905Asp)
c.1683G>C (p.Glu561Asp)
c.5703G>C (p.Glu1901Asp)
n.336-126095G>C
c.372G>C (p.Glu124Asp)
c.5691G>C (p.Glu1897Asp)
c.5346G>C (p.Glu1782Asp)
c.1692G>C (p.Glu564Asp)
c.5586G>C (p.Glu1862Asp)
c.5577G>C (p.Glu1859Asp)
c.5592G>C (p.Glu1864Asp)
 gnomAD v4
Xg.32343158C>TCA515713743DMDc.561G>A (p.Glu187=)
c.5715G>A (p.Glu1905=)
c.1683G>A (p.Glu561=)
c.5703G>A (p.Glu1901=)
n.336-126095G>A
c.372G>A (p.Glu124=)
c.5691G>A (p.Glu1897=)
c.5346G>A (p.Glu1782=)
c.1692G>A (p.Glu564=)
c.5586G>A (p.Glu1862=)
c.5577G>A (p.Glu1859=)
c.5592G>A (p.Glu1864=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32343159T>ACA412665660DMDc.560A>T (p.Glu187Val)
c.5714A>T (p.Glu1905Val)
c.1682A>T (p.Glu561Val)
c.5702A>T (p.Glu1901Val)
n.336-126096A>T
c.371A>T (p.Glu124Val)
c.5690A>T (p.Glu1897Val)
c.5345A>T (p.Glu1782Val)
c.1691A>T (p.Glu564Val)
c.5585A>T (p.Glu1862Val)
c.5576A>T (p.Glu1859Val)
c.5591A>T (p.Glu1864Val)
 gnomAD v4
Xg.32343159T>CCA412665666DMDc.560A>G (p.Glu187Gly)
c.5714A>G (p.Glu1905Gly)
c.1682A>G (p.Glu561Gly)
c.5702A>G (p.Glu1901Gly)
n.336-126096A>G
c.371A>G (p.Glu124Gly)
c.5690A>G (p.Glu1897Gly)
c.5345A>G (p.Glu1782Gly)
c.1691A>G (p.Glu564Gly)
c.5585A>G (p.Glu1862Gly)
c.5576A>G (p.Glu1859Gly)
c.5591A>G (p.Glu1864Gly)
Xg.32343159T>GCA412665659DMDc.560A>C (p.Glu187Ala)
c.5714A>C (p.Glu1905Ala)
c.1682A>C (p.Glu561Ala)
c.5702A>C (p.Glu1901Ala)
n.336-126096A>C
c.371A>C (p.Glu124Ala)
c.5690A>C (p.Glu1897Ala)
c.5345A>C (p.Glu1782Ala)
c.1691A>C (p.Glu564Ala)
c.5585A>C (p.Glu1862Ala)
c.5576A>C (p.Glu1859Ala)
c.5591A>C (p.Glu1864Ala)
Xg.32343160C>ACA412665669DMDc.559G>T (p.Glu187Ter)
c.5713G>T (p.Glu1905Ter)
c.1681G>T (p.Glu561Ter)
c.5701G>T (p.Glu1901Ter)
n.336-126097G>T
c.370G>T (p.Glu124Ter)
c.5689G>T (p.Glu1897Ter)
c.5344G>T (p.Glu1782Ter)
c.1690G>T (p.Glu564Ter)
c.5584G>T (p.Glu1862Ter)
c.5575G>T (p.Glu1859Ter)
c.5590G>T (p.Glu1864Ter)
 ClinVar dbSNP gnomAD v4
Xg.32343160C=CA2422760777DMDc.559G= (p.Glu187=)
c.5713G= (p.Glu1905=)
c.1681G= (p.Glu561=)
c.5701G= (p.Glu1901=)
n.336-126097G=
c.370G= (p.Glu124=)
c.5689G= (p.Glu1897=)
c.5344G= (p.Glu1782=)
c.1690G= (p.Glu564=)
c.5584G= (p.Glu1862=)
c.5575G= (p.Glu1859=)
c.5590G= (p.Glu1864=)
Xg.32343160C>GCA412665673DMDc.559G>C (p.Glu187Gln)
c.5713G>C (p.Glu1905Gln)
c.1681G>C (p.Glu561Gln)
c.5701G>C (p.Glu1901Gln)
n.336-126097G>C
c.370G>C (p.Glu124Gln)
c.5689G>C (p.Glu1897Gln)
c.5344G>C (p.Glu1782Gln)
c.1690G>C (p.Glu564Gln)
c.5584G>C (p.Glu1862Gln)
c.5575G>C (p.Glu1859Gln)
c.5590G>C (p.Glu1864Gln)
 ClinVar gnomAD v4
Xg.32343160C>TCA412665675DMDc.559G>A (p.Glu187Lys)
c.5713G>A (p.Glu1905Lys)
c.1681G>A (p.Glu561Lys)
c.5701G>A (p.Glu1901Lys)
n.336-126097G>A
c.370G>A (p.Glu124Lys)
c.5689G>A (p.Glu1897Lys)
c.5344G>A (p.Glu1782Lys)
c.1690G>A (p.Glu564Lys)
c.5584G>A (p.Glu1862Lys)
c.5575G>A (p.Glu1859Lys)
c.5590G>A (p.Glu1864Lys)
 gnomAD v4
Xg.32343161A=CA2422760778DMDc.558T= (p.Pro186=)
c.5712T= (p.Pro1904=)
c.1680T= (p.Pro560=)
c.5700T= (p.Pro1900=)
n.336-126098T=
c.369T= (p.Pro123=)
c.5688T= (p.Pro1896=)
c.5343T= (p.Pro1781=)
c.1689T= (p.Pro563=)
c.5583T= (p.Pro1861=)
c.5574T= (p.Pro1858=)
c.5589T= (p.Pro1863=)
Xg.32343161A>CCA10378616DMDc.558T>G (p.Pro186=)
c.5712T>G (p.Pro1904=)
c.1680T>G (p.Pro560=)
c.5700T>G (p.Pro1900=)
n.336-126098T>G
c.369T>G (p.Pro123=)
c.5688T>G (p.Pro1896=)
c.5343T>G (p.Pro1781=)
c.1689T>G (p.Pro563=)
c.5583T>G (p.Pro1861=)
c.5574T>G (p.Pro1858=)
c.5589T>G (p.Pro1863=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32343161A>GCA515713744DMDc.558T>C (p.Pro186=)
c.5712T>C (p.Pro1904=)
c.1680T>C (p.Pro560=)
c.5700T>C (p.Pro1900=)
n.336-126098T>C
c.369T>C (p.Pro123=)
c.5688T>C (p.Pro1896=)
c.5343T>C (p.Pro1781=)
c.1689T>C (p.Pro563=)
c.5583T>C (p.Pro1861=)
c.5574T>C (p.Pro1858=)
c.5589T>C (p.Pro1863=)
Xg.32343161A>TCA515713745DMDc.558T>A (p.Pro186=)
c.5712T>A (p.Pro1904=)
c.1680T>A (p.Pro560=)
c.5700T>A (p.Pro1900=)
n.336-126098T>A
c.369T>A (p.Pro123=)
c.5688T>A (p.Pro1896=)
c.5343T>A (p.Pro1781=)
c.1689T>A (p.Pro563=)
c.5583T>A (p.Pro1861=)
c.5574T>A (p.Pro1858=)
c.5589T>A (p.Pro1863=)
Xg.32343162G>ACA412665681DMDc.557C>T (p.Pro186Leu)
c.5711C>T (p.Pro1904Leu)
c.1679C>T (p.Pro560Leu)
c.5699C>T (p.Pro1900Leu)
n.336-126099C>T
c.368C>T (p.Pro123Leu)
c.5687C>T (p.Pro1896Leu)
c.5342C>T (p.Pro1781Leu)
c.1688C>T (p.Pro563Leu)
c.5582C>T (p.Pro1861Leu)
c.5573C>T (p.Pro1858Leu)
c.5588C>T (p.Pro1863Leu)
Xg.32343162G>CCA412665683DMDc.557C>G (p.Pro186Arg)
c.5711C>G (p.Pro1904Arg)
c.1679C>G (p.Pro560Arg)
c.5699C>G (p.Pro1900Arg)
n.336-126099C>G
c.368C>G (p.Pro123Arg)
c.5687C>G (p.Pro1896Arg)
c.5342C>G (p.Pro1781Arg)
c.1688C>G (p.Pro563Arg)
c.5582C>G (p.Pro1861Arg)
c.5573C>G (p.Pro1858Arg)
c.5588C>G (p.Pro1863Arg)
 ClinVar gnomAD v4
Xg.32343162G>TCA412665685DMDc.557C>A (p.Pro186His)
c.5711C>A (p.Pro1904His)
c.1679C>A (p.Pro560His)
c.5699C>A (p.Pro1900His)
n.336-126099C>A
c.368C>A (p.Pro123His)
c.5687C>A (p.Pro1896His)
c.5342C>A (p.Pro1781His)
c.1688C>A (p.Pro563His)
c.5582C>A (p.Pro1861His)
c.5573C>A (p.Pro1858His)
c.5588C>A (p.Pro1863His)
Xg.32343163G>ACA412665689DMDc.556C>T (p.Pro186Ser)
c.5710C>T (p.Pro1904Ser)
c.1678C>T (p.Pro560Ser)
c.5698C>T (p.Pro1900Ser)
n.336-126100C>T
c.367C>T (p.Pro123Ser)
c.5686C>T (p.Pro1896Ser)
c.5341C>T (p.Pro1781Ser)
c.1687C>T (p.Pro563Ser)
c.5581C>T (p.Pro1861Ser)
c.5572C>T (p.Pro1858Ser)
c.5587C>T (p.Pro1863Ser)
 gnomAD v4
Xg.32343163G>CCA412665690DMDc.556C>G (p.Pro186Ala)
c.5710C>G (p.Pro1904Ala)
c.1678C>G (p.Pro560Ala)
c.5698C>G (p.Pro1900Ala)
n.336-126100C>G
c.367C>G (p.Pro123Ala)
c.5686C>G (p.Pro1896Ala)
c.5341C>G (p.Pro1781Ala)
c.1687C>G (p.Pro563Ala)
c.5581C>G (p.Pro1861Ala)
c.5572C>G (p.Pro1858Ala)
c.5587C>G (p.Pro1863Ala)
Xg.32343163G>TCA412665693DMDc.556C>A (p.Pro186Thr)
c.5710C>A (p.Pro1904Thr)
c.1678C>A (p.Pro560Thr)
c.5698C>A (p.Pro1900Thr)
n.336-126100C>A
c.367C>A (p.Pro123Thr)
c.5686C>A (p.Pro1896Thr)
c.5341C>A (p.Pro1781Thr)
c.1687C>A (p.Pro563Thr)
c.5581C>A (p.Pro1861Thr)
c.5572C>A (p.Pro1858Thr)
c.5587C>A (p.Pro1863Thr)
Xg.32343164T>ACA515713746DMDc.555A>T (p.Leu185=)
c.5709A>T (p.Leu1903=)
c.1677A>T (p.Leu559=)
c.5697A>T (p.Leu1899=)
n.336-126101A>T
c.366A>T (p.Leu122=)
c.5685A>T (p.Leu1895=)
c.5340A>T (p.Leu1780=)
c.1686A>T (p.Leu562=)
c.5580A>T (p.Leu1860=)
c.5571A>T (p.Leu1857=)
c.5586A>T (p.Leu1862=)
 ClinVar dbSNP
Xg.32343164T>CCA515713748DMDc.555A>G (p.Leu185=)
c.5709A>G (p.Leu1903=)
c.1677A>G (p.Leu559=)
c.5697A>G (p.Leu1899=)
n.336-126101A>G
c.366A>G (p.Leu122=)
c.5685A>G (p.Leu1895=)
c.5340A>G (p.Leu1780=)
c.1686A>G (p.Leu562=)
c.5580A>G (p.Leu1860=)
c.5571A>G (p.Leu1857=)
c.5586A>G (p.Leu1862=)
Xg.32343164T>GCA515713751DMDc.555A>C (p.Leu185=)
c.5709A>C (p.Leu1903=)
c.1677A>C (p.Leu559=)
c.5697A>C (p.Leu1899=)
n.336-126101A>C
c.366A>C (p.Leu122=)
c.5685A>C (p.Leu1895=)
c.5340A>C (p.Leu1780=)
c.1686A>C (p.Leu562=)
c.5580A>C (p.Leu1860=)
c.5571A>C (p.Leu1857=)
c.5586A>C (p.Leu1862=)
Xg.32343165delCA2695232738DMDc.554del (p.Leu185HisfsTer10)
c.5708del (p.Leu1903HisfsTer10)
c.1676del (p.Leu559HisfsTer10)
c.5696del (p.Leu1899HisfsTer10)
n.336-126102del
c.365del (p.Leu122HisfsTer10)
c.5684del (p.Leu1895HisfsTer10)
c.5339del (p.Leu1780HisfsTer10)
c.1685del (p.Leu562HisfsTer10)
c.5579del (p.Leu1860HisfsTer10)
c.5570del (p.Leu1857HisfsTer10)
c.5585del (p.Leu1862HisfsTer10)
Xg.32343165A>CCA412665696DMDc.554T>G (p.Leu185Arg)
c.5708T>G (p.Leu1903Arg)
c.1676T>G (p.Leu559Arg)
c.5696T>G (p.Leu1899Arg)
n.336-126102T>G
c.365T>G (p.Leu122Arg)
c.5684T>G (p.Leu1895Arg)
c.5339T>G (p.Leu1780Arg)
c.1685T>G (p.Leu562Arg)
c.5579T>G (p.Leu1860Arg)
c.5570T>G (p.Leu1857Arg)
c.5585T>G (p.Leu1862Arg)
Xg.32343165A>GCA412665699DMDc.554T>C (p.Leu185Pro)
c.5708T>C (p.Leu1903Pro)
c.1676T>C (p.Leu559Pro)
c.5696T>C (p.Leu1899Pro)
n.336-126102T>C
c.365T>C (p.Leu122Pro)
c.5684T>C (p.Leu1895Pro)
c.5339T>C (p.Leu1780Pro)
c.1685T>C (p.Leu562Pro)
c.5579T>C (p.Leu1860Pro)
c.5570T>C (p.Leu1857Pro)
c.5585T>C (p.Leu1862Pro)
Xg.32343165A>TCA412665700DMDc.554T>A (p.Leu185Gln)
c.5708T>A (p.Leu1903Gln)
c.1676T>A (p.Leu559Gln)
c.5696T>A (p.Leu1899Gln)
n.336-126102T>A
c.365T>A (p.Leu122Gln)
c.5684T>A (p.Leu1895Gln)
c.5339T>A (p.Leu1780Gln)
c.1685T>A (p.Leu562Gln)
c.5579T>A (p.Leu1860Gln)
c.5570T>A (p.Leu1857Gln)
c.5585T>A (p.Leu1862Gln)
Xg.32343165_32343169delinsAGGCTCA2422760779DMDc.550_554delinsAGCCT (p.Ser184=)
c.5704_5708delinsAGCCT (p.Ser1902=)
c.1672_1676delinsAGCCT (p.Ser558=)
c.5692_5696delinsAGCCT (p.Ser1898=)
n.336-126106_336-126102delinsAGCCT
c.361_365delinsAGCCT (p.Ser121=)
c.5680_5684delinsAGCCT (p.Ser1894=)
c.5335_5339delinsAGCCT (p.Ser1779=)
c.1681_1685delinsAGCCT (p.Ser561=)
c.5575_5579delinsAGCCT (p.Ser1859=)
c.5566_5570delinsAGCCT (p.Ser1856=)
c.5581_5585delinsAGCCT (p.Ser1861=)
Xg.32343166G>ACA515713762DMDc.553C>T (p.Leu185=)
c.5707C>T (p.Leu1903=)
c.1675C>T (p.Leu559=)
c.5695C>T (p.Leu1899=)
n.336-126103C>T
c.364C>T (p.Leu122=)
c.5683C>T (p.Leu1895=)
c.5338C>T (p.Leu1780=)
c.1684C>T (p.Leu562=)
c.5578C>T (p.Leu1860=)
c.5569C>T (p.Leu1857=)
c.5584C>T (p.Leu1862=)
Xg.32343166G>CCA10378617DMDc.553C>G (p.Leu185Val)
c.5707C>G (p.Leu1903Val)
c.1675C>G (p.Leu559Val)
c.5695C>G (p.Leu1899Val)
n.336-126103C>G
c.364C>G (p.Leu122Val)
c.5683C>G (p.Leu1895Val)
c.5338C>G (p.Leu1780Val)
c.1684C>G (p.Leu562Val)
c.5578C>G (p.Leu1860Val)
c.5569C>G (p.Leu1857Val)
c.5584C>G (p.Leu1862Val)
 ClinVar dbSNP ExAC gnomAD v2
Xg.32343166G=CA2422760781DMDc.553C= (p.Leu185=)
c.5707C= (p.Leu1903=)
c.1675C= (p.Leu559=)
c.5695C= (p.Leu1899=)
n.336-126103C=
c.364C= (p.Leu122=)
c.5683C= (p.Leu1895=)
c.5338C= (p.Leu1780=)
c.1684C= (p.Leu562=)
c.5578C= (p.Leu1860=)
c.5569C= (p.Leu1857=)
c.5584C= (p.Leu1862=)
Xg.32343166G>TCA412665701DMDc.553C>A (p.Leu185Ile)
c.5707C>A (p.Leu1903Ile)
c.1675C>A (p.Leu559Ile)
c.5695C>A (p.Leu1899Ile)
n.336-126103C>A
c.364C>A (p.Leu122Ile)
c.5683C>A (p.Leu1895Ile)
c.5338C>A (p.Leu1780Ile)
c.1684C>A (p.Leu562Ile)
c.5578C>A (p.Leu1860Ile)
c.5569C>A (p.Leu1857Ile)
c.5584C>A (p.Leu1862Ile)
Xg.32343170_32343173delCA2422760780DMDc.550_553del (p.Ser184TyrfsTer10)
c.5704_5707del (p.Ser1902TyrfsTer10)
c.1672_1675del (p.Ser558TyrfsTer10)
c.5692_5695del (p.Ser1898TyrfsTer10)
n.336-126106_336-126103del
c.361_364del (p.Ser121TyrfsTer10)
c.5680_5683del (p.Ser1894TyrfsTer10)
c.5335_5338del (p.Ser1779TyrfsTer10)
c.1681_1684del (p.Ser561TyrfsTer10)
c.5575_5578del (p.Ser1859TyrfsTer10)
c.5566_5569del (p.Ser1856TyrfsTer10)
c.5581_5584del (p.Ser1861TyrfsTer10)
 ClinVar dbSNP
Xg.32343167G>ACA515713764DMDc.552C>T (p.Ser184=)
c.5706C>T (p.Ser1902=)
c.1674C>T (p.Ser558=)
c.5694C>T (p.Ser1898=)
n.336-126104C>T
c.363C>T (p.Ser121=)
c.5682C>T (p.Ser1894=)
c.5337C>T (p.Ser1779=)
c.1683C>T (p.Ser561=)
c.5577C>T (p.Ser1859=)
c.5568C>T (p.Ser1856=)
c.5583C>T (p.Ser1861=)
Xg.32343167G>CCA412665704DMDc.552C>G (p.Ser184Arg)
c.5706C>G (p.Ser1902Arg)
c.1674C>G (p.Ser558Arg)
c.5694C>G (p.Ser1898Arg)
n.336-126104C>G
c.363C>G (p.Ser121Arg)
c.5682C>G (p.Ser1894Arg)
c.5337C>G (p.Ser1779Arg)
c.1683C>G (p.Ser561Arg)
c.5577C>G (p.Ser1859Arg)
c.5568C>G (p.Ser1856Arg)
c.5583C>G (p.Ser1861Arg)
Xg.32343167G=CA2422760782DMDc.552C= (p.Ser184=)
c.5706C= (p.Ser1902=)
c.1674C= (p.Ser558=)
c.5694C= (p.Ser1898=)
n.336-126104C=
c.363C= (p.Ser121=)
c.5682C= (p.Ser1894=)
c.5337C= (p.Ser1779=)
c.1683C= (p.Ser561=)
c.5577C= (p.Ser1859=)
c.5568C= (p.Ser1856=)
c.5583C= (p.Ser1861=)
Xg.32343167G>TCA10378618DMDc.552C>A (p.Ser184Arg)
c.5706C>A (p.Ser1902Arg)
c.1674C>A (p.Ser558Arg)
c.5694C>A (p.Ser1898Arg)
n.336-126104C>A
c.363C>A (p.Ser121Arg)
c.5682C>A (p.Ser1894Arg)
c.5337C>A (p.Ser1779Arg)
c.1683C>A (p.Ser561Arg)
c.5577C>A (p.Ser1859Arg)
c.5568C>A (p.Ser1856Arg)
c.5583C>A (p.Ser1861Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343168C>ACA10378619DMDc.551G>T (p.Ser184Ile)
c.5705G>T (p.Ser1902Ile)
c.1673G>T (p.Ser558Ile)
c.5693G>T (p.Ser1898Ile)
n.336-126105G>T
c.362G>T (p.Ser121Ile)
c.5681G>T (p.Ser1894Ile)
c.5336G>T (p.Ser1779Ile)
c.1682G>T (p.Ser561Ile)
c.5576G>T (p.Ser1859Ile)
c.5567G>T (p.Ser1856Ile)
c.5582G>T (p.Ser1861Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32343168C=CA2422760783DMDc.551G= (p.Ser184=)
c.5705G= (p.Ser1902=)
c.1673G= (p.Ser558=)
c.5693G= (p.Ser1898=)
n.336-126105G=
c.362G= (p.Ser121=)
c.5681G= (p.Ser1894=)
c.5336G= (p.Ser1779=)
c.1682G= (p.Ser561=)
c.5576G= (p.Ser1859=)
c.5567G= (p.Ser1856=)
c.5582G= (p.Ser1861=)
Xg.32343168C>GCA412665708DMDc.551G>C (p.Ser184Thr)
c.5705G>C (p.Ser1902Thr)
c.1673G>C (p.Ser558Thr)
c.5693G>C (p.Ser1898Thr)
n.336-126105G>C
c.362G>C (p.Ser121Thr)
c.5681G>C (p.Ser1894Thr)
c.5336G>C (p.Ser1779Thr)
c.1682G>C (p.Ser561Thr)
c.5576G>C (p.Ser1859Thr)
c.5567G>C (p.Ser1856Thr)
c.5582G>C (p.Ser1861Thr)
 gnomAD v4
Xg.32343168C>TCA10378620DMDc.551G>A (p.Ser184Asn)
c.5705G>A (p.Ser1902Asn)
c.1673G>A (p.Ser558Asn)
c.5693G>A (p.Ser1898Asn)
n.336-126105G>A
c.362G>A (p.Ser121Asn)
c.5681G>A (p.Ser1894Asn)
c.5336G>A (p.Ser1779Asn)
c.1682G>A (p.Ser561Asn)
c.5576G>A (p.Ser1859Asn)
c.5567G>A (p.Ser1856Asn)
c.5582G>A (p.Ser1861Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32343169T>ACA412665719DMDc.550A>T (p.Ser184Cys)
c.5704A>T (p.Ser1902Cys)
c.1672A>T (p.Ser558Cys)
c.5692A>T (p.Ser1898Cys)
n.336-126106A>T
c.361A>T (p.Ser121Cys)
c.5680A>T (p.Ser1894Cys)
c.5335A>T (p.Ser1779Cys)
c.1681A>T (p.Ser561Cys)
c.5575A>T (p.Ser1859Cys)
c.5566A>T (p.Ser1856Cys)
c.5581A>T (p.Ser1861Cys)
Xg.32343169T>CCA412665716DMDc.550A>G (p.Ser184Gly)
c.5704A>G (p.Ser1902Gly)
c.1672A>G (p.Ser558Gly)
c.5692A>G (p.Ser1898Gly)
n.336-126106A>G
c.361A>G (p.Ser121Gly)
c.5680A>G (p.Ser1894Gly)
c.5335A>G (p.Ser1779Gly)
c.1681A>G (p.Ser561Gly)
c.5575A>G (p.Ser1859Gly)
c.5566A>G (p.Ser1856Gly)
c.5581A>G (p.Ser1861Gly)
 gnomAD v4
Xg.32343169T>GCA412665715DMDc.550A>C (p.Ser184Arg)
c.5704A>C (p.Ser1902Arg)
c.1672A>C (p.Ser558Arg)
c.5692A>C (p.Ser1898Arg)
n.336-126106A>C
c.361A>C (p.Ser121Arg)
c.5680A>C (p.Ser1894Arg)
c.5335A>C (p.Ser1779Arg)
c.1681A>C (p.Ser561Arg)
c.5575A>C (p.Ser1859Arg)
c.5566A>C (p.Ser1856Arg)
c.5581A>C (p.Ser1861Arg)
Xg.32343169_32343174delinsCCA2695232739DMDc.545_550delinsG (p.Leu182TrpfsTer4)
c.5699_5704delinsG (p.Leu1900TrpfsTer4)
c.1667_1672delinsG (p.Leu556TrpfsTer4)
c.5687_5692delinsG (p.Leu1896TrpfsTer4)
n.336-126111_336-126106delinsG
c.356_361delinsG (p.Leu119TrpfsTer4)
c.5675_5680delinsG (p.Leu1892TrpfsTer4)
c.5330_5335delinsG (p.Leu1777TrpfsTer4)
c.1676_1681delinsG (p.Leu559TrpfsTer4)
c.5570_5575delinsG (p.Leu1857TrpfsTer4)
c.5561_5566delinsG (p.Leu1854TrpfsTer4)
c.5576_5581delinsG (p.Leu1859TrpfsTer4)
Xg.32343170G>ACA515713784DMDc.549C>T (p.Ala183=)
c.5703C>T (p.Ala1901=)
c.1671C>T (p.Ala557=)
c.5691C>T (p.Ala1897=)
n.336-126107C>T
c.360C>T (p.Ala120=)
c.5679C>T (p.Ala1893=)
c.5334C>T (p.Ala1778=)
c.1680C>T (p.Ala560=)
c.5574C>T (p.Ala1858=)
c.5565C>T (p.Ala1855=)
c.5580C>T (p.Ala1860=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343170G>CCA515713786DMDc.549C>G (p.Ala183=)
c.5703C>G (p.Ala1901=)
c.1671C>G (p.Ala557=)
c.5691C>G (p.Ala1897=)
n.336-126107C>G
c.360C>G (p.Ala120=)
c.5679C>G (p.Ala1893=)
c.5334C>G (p.Ala1778=)
c.1680C>G (p.Ala560=)
c.5574C>G (p.Ala1858=)
c.5565C>G (p.Ala1855=)
c.5580C>G (p.Ala1860=)
Xg.32343170G=CA2422760784DMDc.549C= (p.Ala183=)
c.5703C= (p.Ala1901=)
c.1671C= (p.Ala557=)
c.5691C= (p.Ala1897=)
n.336-126107C=
c.360C= (p.Ala120=)
c.5679C= (p.Ala1893=)
c.5334C= (p.Ala1778=)
c.1680C= (p.Ala560=)
c.5574C= (p.Ala1858=)
c.5565C= (p.Ala1855=)
c.5580C= (p.Ala1860=)
Xg.32343170G>TCA515713788DMDc.549C>A (p.Ala183=)
c.5703C>A (p.Ala1901=)
c.1671C>A (p.Ala557=)
c.5691C>A (p.Ala1897=)
n.336-126107C>A
c.360C>A (p.Ala120=)
c.5679C>A (p.Ala1893=)
c.5334C>A (p.Ala1778=)
c.1680C>A (p.Ala560=)
c.5574C>A (p.Ala1858=)
c.5565C>A (p.Ala1855=)
c.5580C>A (p.Ala1860=)
Xg.32343171G>ACA412665720DMDc.548C>T (p.Ala183Val)
c.5702C>T (p.Ala1901Val)
c.1670C>T (p.Ala557Val)
c.5690C>T (p.Ala1897Val)
n.336-126108C>T
c.359C>T (p.Ala120Val)
c.5678C>T (p.Ala1893Val)
c.5333C>T (p.Ala1778Val)
c.1679C>T (p.Ala560Val)
c.5573C>T (p.Ala1858Val)
c.5564C>T (p.Ala1855Val)
c.5579C>T (p.Ala1860Val)
 dbSNP
Xg.32343171G>CCA412665721DMDc.548C>G (p.Ala183Gly)
c.5702C>G (p.Ala1901Gly)
c.1670C>G (p.Ala557Gly)
c.5690C>G (p.Ala1897Gly)
n.336-126108C>G
c.359C>G (p.Ala120Gly)
c.5678C>G (p.Ala1893Gly)
c.5333C>G (p.Ala1778Gly)
c.1679C>G (p.Ala560Gly)
c.5573C>G (p.Ala1858Gly)
c.5564C>G (p.Ala1855Gly)
c.5579C>G (p.Ala1860Gly)
Xg.32343171G=CA2422760785DMDc.548C= (p.Ala183=)
c.5702C= (p.Ala1901=)
c.1670C= (p.Ala557=)
c.5690C= (p.Ala1897=)
n.336-126108C=
c.359C= (p.Ala120=)
c.5678C= (p.Ala1893=)
c.5333C= (p.Ala1778=)
c.1679C= (p.Ala560=)
c.5573C= (p.Ala1858=)
c.5564C= (p.Ala1855=)
c.5579C= (p.Ala1860=)
Xg.32343171G>TCA412665722DMDc.548C>A (p.Ala183Asp)
c.5702C>A (p.Ala1901Asp)
c.1670C>A (p.Ala557Asp)
c.5690C>A (p.Ala1897Asp)
n.336-126108C>A
c.359C>A (p.Ala120Asp)
c.5678C>A (p.Ala1893Asp)
c.5333C>A (p.Ala1778Asp)
c.1679C>A (p.Ala560Asp)
c.5573C>A (p.Ala1858Asp)
c.5564C>A (p.Ala1855Asp)
c.5579C>A (p.Ala1860Asp)
Xg.32343172C>ACA412665726DMDc.547G>T (p.Ala183Ser)
c.5701G>T (p.Ala1901Ser)
c.1669G>T (p.Ala557Ser)
c.5689G>T (p.Ala1897Ser)
n.336-126109G>T
c.358G>T (p.Ala120Ser)
c.5677G>T (p.Ala1893Ser)
c.5332G>T (p.Ala1778Ser)
c.1678G>T (p.Ala560Ser)
c.5572G>T (p.Ala1858Ser)
c.5563G>T (p.Ala1855Ser)
c.5578G>T (p.Ala1860Ser)
Xg.32343172C=CA2422760786DMDc.547G= (p.Ala183=)
c.5701G= (p.Ala1901=)
c.1669G= (p.Ala557=)
c.5689G= (p.Ala1897=)
n.336-126109G=
c.358G= (p.Ala120=)
c.5677G= (p.Ala1893=)
c.5332G= (p.Ala1778=)
c.1678G= (p.Ala560=)
c.5572G= (p.Ala1858=)
c.5563G= (p.Ala1855=)
c.5578G= (p.Ala1860=)
Xg.32343172C>GCA412665734DMDc.547G>C (p.Ala183Pro)
c.5701G>C (p.Ala1901Pro)
c.1669G>C (p.Ala557Pro)
c.5689G>C (p.Ala1897Pro)
n.336-126109G>C
c.358G>C (p.Ala120Pro)
c.5677G>C (p.Ala1893Pro)
c.5332G>C (p.Ala1778Pro)
c.1678G>C (p.Ala560Pro)
c.5572G>C (p.Ala1858Pro)
c.5563G>C (p.Ala1855Pro)
c.5578G>C (p.Ala1860Pro)
Xg.32343172C>TCA245528DMDc.547G>A (p.Ala183Thr)
c.5701G>A (p.Ala1901Thr)
c.1669G>A (p.Ala557Thr)
c.5689G>A (p.Ala1897Thr)
n.336-126109G>A
c.358G>A (p.Ala120Thr)
c.5677G>A (p.Ala1893Thr)
c.5332G>A (p.Ala1778Thr)
c.1678G>A (p.Ala560Thr)
c.5572G>A (p.Ala1858Thr)
c.5563G>A (p.Ala1855Thr)
c.5578G>A (p.Ala1860Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32343173T>ACA412665736DMDc.546A>T (p.Leu182Phe)
c.5700A>T (p.Leu1900Phe)
c.1668A>T (p.Leu556Phe)
c.5688A>T (p.Leu1896Phe)
n.336-126110A>T
c.357A>T (p.Leu119Phe)
c.5676A>T (p.Leu1892Phe)
c.5331A>T (p.Leu1777Phe)
c.1677A>T (p.Leu559Phe)
c.5571A>T (p.Leu1857Phe)
c.5562A>T (p.Leu1854Phe)
c.5577A>T (p.Leu1859Phe)
Xg.32343173T>CCA10378621DMDc.546A>G (p.Leu182=)
c.5700A>G (p.Leu1900=)
c.1668A>G (p.Leu556=)
c.5688A>G (p.Leu1896=)
n.336-126110A>G
c.357A>G (p.Leu119=)
c.5676A>G (p.Leu1892=)
c.5331A>G (p.Leu1777=)
c.1677A>G (p.Leu559=)
c.5571A>G (p.Leu1857=)
c.5562A>G (p.Leu1854=)
c.5577A>G (p.Leu1859=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343173T>GCA412665738DMDc.546A>C (p.Leu182Phe)
c.5700A>C (p.Leu1900Phe)
c.1668A>C (p.Leu556Phe)
c.5688A>C (p.Leu1896Phe)
n.336-126110A>C
c.357A>C (p.Leu119Phe)
c.5676A>C (p.Leu1892Phe)
c.5331A>C (p.Leu1777Phe)
c.1677A>C (p.Leu559Phe)
c.5571A>C (p.Leu1857Phe)
c.5562A>C (p.Leu1854Phe)
c.5577A>C (p.Leu1859Phe)
Xg.32343173T=CA2422760787DMDc.546A= (p.Leu182=)
c.5700A= (p.Leu1900=)
c.1668A= (p.Leu556=)
c.5688A= (p.Leu1896=)
n.336-126110A=
c.357A= (p.Leu119=)
c.5676A= (p.Leu1892=)
c.5331A= (p.Leu1777=)
c.1677A= (p.Leu559=)
c.5571A= (p.Leu1857=)
c.5562A= (p.Leu1854=)
c.5577A= (p.Leu1859=)
Xg.32343174A=CA2422760788DMDc.545T= (p.Leu182=)
c.5699T= (p.Leu1900=)
c.1667T= (p.Leu556=)
c.5687T= (p.Leu1896=)
n.336-126111T=
c.356T= (p.Leu119=)
c.5675T= (p.Leu1892=)
c.5330T= (p.Leu1777=)
c.1676T= (p.Leu559=)
c.5570T= (p.Leu1857=)
c.5561T= (p.Leu1854=)
c.5576T= (p.Leu1859=)
Xg.32343174A>CCA16043588DMDc.545T>G (p.Leu182Ter)
c.5699T>G (p.Leu1900Ter)
c.1667T>G (p.Leu556Ter)
c.5687T>G (p.Leu1896Ter)
n.336-126111T>G
c.356T>G (p.Leu119Ter)
c.5675T>G (p.Leu1892Ter)
c.5330T>G (p.Leu1777Ter)
c.1676T>G (p.Leu559Ter)
c.5570T>G (p.Leu1857Ter)
c.5561T>G (p.Leu1854Ter)
c.5576T>G (p.Leu1859Ter)
 ClinVar dbSNP
Xg.32343174A>GCA412665742DMDc.545T>C (p.Leu182Ser)
c.5699T>C (p.Leu1900Ser)
c.1667T>C (p.Leu556Ser)
c.5687T>C (p.Leu1896Ser)
n.336-126111T>C
c.356T>C (p.Leu119Ser)
c.5675T>C (p.Leu1892Ser)
c.5330T>C (p.Leu1777Ser)
c.1676T>C (p.Leu559Ser)
c.5570T>C (p.Leu1857Ser)
c.5561T>C (p.Leu1854Ser)
c.5576T>C (p.Leu1859Ser)
 dbSNP
Xg.32343174A>TCA412665750DMDc.545T>A (p.Leu182Ter)
c.5699T>A (p.Leu1900Ter)
c.1667T>A (p.Leu556Ter)
c.5687T>A (p.Leu1896Ter)
n.336-126111T>A
c.356T>A (p.Leu119Ter)
c.5675T>A (p.Leu1892Ter)
c.5330T>A (p.Leu1777Ter)
c.1676T>A (p.Leu559Ter)
c.5570T>A (p.Leu1857Ter)
c.5561T>A (p.Leu1854Ter)
c.5576T>A (p.Leu1859Ter)
 ClinVar dbSNP
Xg.32343175A=CA2422760789DMDc.544T= (p.Leu182=)
c.5698T= (p.Leu1900=)
c.1666T= (p.Leu556=)
c.5686T= (p.Leu1896=)
n.336-126112T=
c.355T= (p.Leu119=)
c.5674T= (p.Leu1892=)
c.5329T= (p.Leu1777=)
c.1675T= (p.Leu559=)
c.5569T= (p.Leu1857=)
c.5560T= (p.Leu1854=)
c.5575T= (p.Leu1859=)
Xg.32343175A>CCA10378622DMDc.544T>G (p.Leu182Val)
c.5698T>G (p.Leu1900Val)
c.1666T>G (p.Leu556Val)
c.5686T>G (p.Leu1896Val)
n.336-126112T>G
c.355T>G (p.Leu119Val)
c.5674T>G (p.Leu1892Val)
c.5329T>G (p.Leu1777Val)
c.1675T>G (p.Leu559Val)
c.5569T>G (p.Leu1857Val)
c.5560T>G (p.Leu1854Val)
c.5575T>G (p.Leu1859Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32343175A>GCA515713813DMDc.544T>C (p.Leu182=)
c.5698T>C (p.Leu1900=)
c.1666T>C (p.Leu556=)
c.5686T>C (p.Leu1896=)
n.336-126112T>C
c.355T>C (p.Leu119=)
c.5674T>C (p.Leu1892=)
c.5329T>C (p.Leu1777=)
c.1675T>C (p.Leu559=)
c.5569T>C (p.Leu1857=)
c.5560T>C (p.Leu1854=)
c.5575T>C (p.Leu1859=)
Xg.32343175A>TCA412665755DMDc.544T>A (p.Leu182Ile)
c.5698T>A (p.Leu1900Ile)
c.1666T>A (p.Leu556Ile)
c.5686T>A (p.Leu1896Ile)
n.336-126112T>A
c.355T>A (p.Leu119Ile)
c.5674T>A (p.Leu1892Ile)
c.5329T>A (p.Leu1777Ile)
c.1675T>A (p.Leu559Ile)
c.5569T>A (p.Leu1857Ile)
c.5560T>A (p.Leu1854Ile)
c.5575T>A (p.Leu1859Ile)
Xg.32343175_32343176delinsATCA2422760790DMDc.543_544delinsAT (p.Lys181=)
c.5697_5698delinsAT (p.Lys1899=)
c.1665_1666delinsAT (p.Lys555=)
c.5685_5686delinsAT (p.Lys1895=)
n.336-126113_336-126112delinsAT
c.354_355delinsAT (p.Lys118=)
c.5673_5674delinsAT (p.Lys1891=)
c.5328_5329delinsAT (p.Lys1776=)
c.1674_1675delinsAT (p.Lys558=)
c.5568_5569delinsAT (p.Lys1856=)
c.5559_5560delinsAT (p.Lys1853=)
c.5574_5575delinsAT (p.Lys1858=)
Xg.32343176T>ACA412665762DMDc.543A>T (p.Lys181Asn)
c.5697A>T (p.Lys1899Asn)
c.1665A>T (p.Lys555Asn)
c.5685A>T (p.Lys1895Asn)
n.336-126113A>T
c.354A>T (p.Lys118Asn)
c.5673A>T (p.Lys1891Asn)
c.5328A>T (p.Lys1776Asn)
c.1674A>T (p.Lys558Asn)
c.5568A>T (p.Lys1856Asn)
c.5559A>T (p.Lys1853Asn)
c.5574A>T (p.Lys1858Asn)
 dbSNP
Xg.32343176T>CCA515713822DMDc.543A>G (p.Lys181=)
c.5697A>G (p.Lys1899=)
c.1665A>G (p.Lys555=)
c.5685A>G (p.Lys1895=)
n.336-126113A>G
c.354A>G (p.Lys118=)
c.5673A>G (p.Lys1891=)
c.5328A>G (p.Lys1776=)
c.1674A>G (p.Lys558=)
c.5568A>G (p.Lys1856=)
c.5559A>G (p.Lys1853=)
c.5574A>G (p.Lys1858=)
 ClinVar dbSNP
Xg.32343176T>GCA412665766DMDc.543A>C (p.Lys181Asn)
c.5697A>C (p.Lys1899Asn)
c.1665A>C (p.Lys555Asn)
c.5685A>C (p.Lys1895Asn)
n.336-126113A>C
c.354A>C (p.Lys118Asn)
c.5673A>C (p.Lys1891Asn)
c.5328A>C (p.Lys1776Asn)
c.1674A>C (p.Lys558Asn)
c.5568A>C (p.Lys1856Asn)
c.5559A>C (p.Lys1853Asn)
c.5574A>C (p.Lys1858Asn)
Xg.32343176T=CA2422760791DMDc.543A= (p.Lys181=)
c.5697A= (p.Lys1899=)
c.1665A= (p.Lys555=)
c.5685A= (p.Lys1895=)
n.336-126113A=
c.354A= (p.Lys118=)
c.5673A= (p.Lys1891=)
c.5328A= (p.Lys1776=)
c.1674A= (p.Lys558=)
c.5568A= (p.Lys1856=)
c.5559A= (p.Lys1853=)
c.5574A= (p.Lys1858=)
Xg.32343183dupCA645619976DMDc.543dup (p.Leu182IlefsTer6)
c.5697dup (p.Leu1900IlefsTer6)
c.1665dup (p.Leu556IlefsTer6)
c.5685dup (p.Leu1896IlefsTer6)
n.336-126113dup
c.354dup (p.Leu119IlefsTer6)
c.5673dup (p.Leu1892IlefsTer6)
c.5328dup (p.Leu1777IlefsTer6)
c.1674dup (p.Leu559IlefsTer6)
c.5568dup (p.Leu1857IlefsTer6)
c.5559dup (p.Leu1854IlefsTer6)
c.5574dup (p.Leu1859IlefsTer6)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32343183delCA275266DMDc.543del (p.Lys181AsnfsTer2)
c.5697del (p.Lys1899AsnfsTer2)
c.1665del (p.Lys555AsnfsTer2)
c.5685del (p.Lys1895AsnfsTer2)
n.336-126113del
c.354del (p.Lys118AsnfsTer2)
c.5673del (p.Lys1891AsnfsTer2)
c.5328del (p.Lys1776AsnfsTer2)
c.1674del (p.Lys558AsnfsTer2)
c.5568del (p.Lys1856AsnfsTer2)
c.5559del (p.Lys1853AsnfsTer2)
c.5574del (p.Lys1858AsnfsTer2)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32343182_32343183delCA2693393766DMDc.542_543del (p.Lys181IlefsTer6)
c.5696_5697del (p.Lys1899IlefsTer6)
c.1664_1665del (p.Lys555IlefsTer6)
c.5684_5685del (p.Lys1895IlefsTer6)
n.336-126114_336-126113del
c.353_354del (p.Lys118IlefsTer6)
c.5672_5673del (p.Lys1891IlefsTer6)
c.5327_5328del (p.Lys1776IlefsTer6)
c.1673_1674del (p.Lys558IlefsTer6)
c.5567_5568del (p.Lys1856IlefsTer6)
c.5558_5559del (p.Lys1853IlefsTer6)
c.5573_5574del (p.Lys1858IlefsTer6)
 gnomAD v4
Xg.32343180_32343183delCA2695232740DMDc.540_543del (p.Lys180AsnfsTer2)
c.5694_5697del (p.Lys1898AsnfsTer2)
c.1662_1665del (p.Lys554AsnfsTer2)
c.5682_5685del (p.Lys1894AsnfsTer2)
n.336-126116_336-126113del
c.351_354del (p.Lys117AsnfsTer2)
c.5670_5673del (p.Lys1890AsnfsTer2)
c.5325_5328del (p.Lys1775AsnfsTer2)
c.1671_1674del (p.Lys557AsnfsTer2)
c.5565_5568del (p.Lys1855AsnfsTer2)
c.5556_5559del (p.Lys1852AsnfsTer2)
c.5571_5574del (p.Lys1857AsnfsTer2)
Xg.32343177T>ACA412665772DMDc.542A>T (p.Lys181Ile)
c.5696A>T (p.Lys1899Ile)
c.1664A>T (p.Lys555Ile)
c.5684A>T (p.Lys1895Ile)
n.336-126114A>T
c.353A>T (p.Lys118Ile)
c.5672A>T (p.Lys1891Ile)
c.5327A>T (p.Lys1776Ile)
c.1673A>T (p.Lys558Ile)
c.5567A>T (p.Lys1856Ile)
c.5558A>T (p.Lys1853Ile)
c.5573A>T (p.Lys1858Ile)
 gnomAD v4
Xg.32343177T>CCA412665773DMDc.542A>G (p.Lys181Arg)
c.5696A>G (p.Lys1899Arg)
c.1664A>G (p.Lys555Arg)
c.5684A>G (p.Lys1895Arg)
n.336-126114A>G
c.353A>G (p.Lys118Arg)
c.5672A>G (p.Lys1891Arg)
c.5327A>G (p.Lys1776Arg)
c.1673A>G (p.Lys558Arg)
c.5567A>G (p.Lys1856Arg)
c.5558A>G (p.Lys1853Arg)
c.5573A>G (p.Lys1858Arg)
Xg.32343177T>GCA327982184DMDc.542A>C (p.Lys181Thr)
c.5696A>C (p.Lys1899Thr)
c.1664A>C (p.Lys555Thr)
c.5684A>C (p.Lys1895Thr)
n.336-126114A>C
c.353A>C (p.Lys118Thr)
c.5672A>C (p.Lys1891Thr)
c.5327A>C (p.Lys1776Thr)
c.1673A>C (p.Lys558Thr)
c.5567A>C (p.Lys1856Thr)
c.5558A>C (p.Lys1853Thr)
c.5573A>C (p.Lys1858Thr)
 dbSNP gnomAD v3 gnomAD v4
Xg.32343177T=CA2422760792DMDc.542A= (p.Lys181=)
c.5696A= (p.Lys1899=)
c.1664A= (p.Lys555=)
c.5684A= (p.Lys1895=)
n.336-126114A=
c.353A= (p.Lys118=)
c.5672A= (p.Lys1891=)
c.5327A= (p.Lys1776=)
c.1673A= (p.Lys558=)
c.5567A= (p.Lys1856=)
c.5558A= (p.Lys1853=)
c.5573A= (p.Lys1858=)
Xg.32343178T>ACA412665777DMDc.541A>T (p.Lys181Ter)
c.5695A>T (p.Lys1899Ter)
c.1663A>T (p.Lys555Ter)
c.5683A>T (p.Lys1895Ter)
n.336-126115A>T
c.352A>T (p.Lys118Ter)
c.5671A>T (p.Lys1891Ter)
c.5326A>T (p.Lys1776Ter)
c.1672A>T (p.Lys558Ter)
c.5566A>T (p.Lys1856Ter)
c.5557A>T (p.Lys1853Ter)
c.5572A>T (p.Lys1858Ter)
Xg.32343178T>CCA412665782DMDc.541A>G (p.Lys181Glu)
c.5695A>G (p.Lys1899Glu)
c.1663A>G (p.Lys555Glu)
c.5683A>G (p.Lys1895Glu)
n.336-126115A>G
c.352A>G (p.Lys118Glu)
c.5671A>G (p.Lys1891Glu)
c.5326A>G (p.Lys1776Glu)
c.1672A>G (p.Lys558Glu)
c.5566A>G (p.Lys1856Glu)
c.5557A>G (p.Lys1853Glu)
c.5572A>G (p.Lys1858Glu)
Xg.32343178T>GCA412665784DMDc.541A>C (p.Lys181Gln)
c.5695A>C (p.Lys1899Gln)
c.1663A>C (p.Lys555Gln)
c.5683A>C (p.Lys1895Gln)
n.336-126115A>C
c.352A>C (p.Lys118Gln)
c.5671A>C (p.Lys1891Gln)
c.5326A>C (p.Lys1776Gln)
c.1672A>C (p.Lys558Gln)
c.5566A>C (p.Lys1856Gln)
c.5557A>C (p.Lys1853Gln)
c.5572A>C (p.Lys1858Gln)
Xg.32343179T>ACA412665789DMDc.540A>T (p.Lys180Asn)
c.5694A>T (p.Lys1898Asn)
c.1662A>T (p.Lys554Asn)
c.5682A>T (p.Lys1894Asn)
n.336-126116A>T
c.351A>T (p.Lys117Asn)
c.5670A>T (p.Lys1890Asn)
c.5325A>T (p.Lys1775Asn)
c.1671A>T (p.Lys557Asn)
c.5565A>T (p.Lys1855Asn)
c.5556A>T (p.Lys1852Asn)
c.5571A>T (p.Lys1857Asn)
Xg.32343179T>CCA515713839DMDc.540A>G (p.Lys180=)
c.5694A>G (p.Lys1898=)
c.1662A>G (p.Lys554=)
c.5682A>G (p.Lys1894=)
n.336-126116A>G
c.351A>G (p.Lys117=)
c.5670A>G (p.Lys1890=)
c.5325A>G (p.Lys1775=)
c.1671A>G (p.Lys557=)
c.5565A>G (p.Lys1855=)
c.5556A>G (p.Lys1852=)
c.5571A>G (p.Lys1857=)
Xg.32343179T>GCA412665792DMDc.540A>C (p.Lys180Asn)
c.5694A>C (p.Lys1898Asn)
c.1662A>C (p.Lys554Asn)
c.5682A>C (p.Lys1894Asn)
n.336-126116A>C
c.351A>C (p.Lys117Asn)
c.5670A>C (p.Lys1890Asn)
c.5325A>C (p.Lys1775Asn)
c.1671A>C (p.Lys557Asn)
c.5565A>C (p.Lys1855Asn)
c.5556A>C (p.Lys1852Asn)
c.5571A>C (p.Lys1857Asn)
Xg.32343180T>ACA412665793DMDc.539A>T (p.Lys180Ile)
c.5693A>T (p.Lys1898Ile)
c.1661A>T (p.Lys554Ile)
c.5681A>T (p.Lys1894Ile)
n.336-126117A>T
c.350A>T (p.Lys117Ile)
c.5669A>T (p.Lys1890Ile)
c.5324A>T (p.Lys1775Ile)
c.1670A>T (p.Lys557Ile)
c.5564A>T (p.Lys1855Ile)
c.5555A>T (p.Lys1852Ile)
c.5570A>T (p.Lys1857Ile)
Xg.32343180T>CCA412665794DMDc.539A>G (p.Lys180Arg)
c.5693A>G (p.Lys1898Arg)
c.1661A>G (p.Lys554Arg)
c.5681A>G (p.Lys1894Arg)
n.336-126117A>G
c.350A>G (p.Lys117Arg)
c.5669A>G (p.Lys1890Arg)
c.5324A>G (p.Lys1775Arg)
c.1670A>G (p.Lys557Arg)
c.5564A>G (p.Lys1855Arg)
c.5555A>G (p.Lys1852Arg)
c.5570A>G (p.Lys1857Arg)
 ClinVar dbSNP gnomAD v4
Xg.32343180T>GCA245525DMDc.539A>C (p.Lys180Thr)
c.5693A>C (p.Lys1898Thr)
c.1661A>C (p.Lys554Thr)
c.5681A>C (p.Lys1894Thr)
n.336-126117A>C
c.350A>C (p.Lys117Thr)
c.5669A>C (p.Lys1890Thr)
c.5324A>C (p.Lys1775Thr)
c.1670A>C (p.Lys557Thr)
c.5564A>C (p.Lys1855Thr)
c.5555A>C (p.Lys1852Thr)
c.5570A>C (p.Lys1857Thr)
 ClinVar dbSNP
Xg.32343180T=CA2422760793DMDc.539A= (p.Lys180=)
c.5693A= (p.Lys1898=)
c.1661A= (p.Lys554=)
c.5681A= (p.Lys1894=)
n.336-126117A=
c.350A= (p.Lys117=)
c.5669A= (p.Lys1890=)
c.5324A= (p.Lys1775=)
c.1670A= (p.Lys557=)
c.5564A= (p.Lys1855=)
c.5555A= (p.Lys1852=)
c.5570A= (p.Lys1857=)
Xg.32343181T>ACA412665799DMDc.538A>T (p.Lys180Ter)
c.5692A>T (p.Lys1898Ter)
c.1660A>T (p.Lys554Ter)
c.5680A>T (p.Lys1894Ter)
n.336-126118A>T
c.349A>T (p.Lys117Ter)
c.5668A>T (p.Lys1890Ter)
c.5323A>T (p.Lys1775Ter)
c.1669A>T (p.Lys557Ter)
c.5563A>T (p.Lys1855Ter)
c.5554A>T (p.Lys1852Ter)
c.5569A>T (p.Lys1857Ter)
Xg.32343181T>CCA412665802DMDc.538A>G (p.Lys180Glu)
c.5692A>G (p.Lys1898Glu)
c.1660A>G (p.Lys554Glu)
c.5680A>G (p.Lys1894Glu)
n.336-126118A>G
c.349A>G (p.Lys117Glu)
c.5668A>G (p.Lys1890Glu)
c.5323A>G (p.Lys1775Glu)
c.1669A>G (p.Lys557Glu)
c.5563A>G (p.Lys1855Glu)
c.5554A>G (p.Lys1852Glu)
c.5569A>G (p.Lys1857Glu)
Xg.32343181T>GCA412665805DMDc.538A>C (p.Lys180Gln)
c.5692A>C (p.Lys1898Gln)
c.1660A>C (p.Lys554Gln)
c.5680A>C (p.Lys1894Gln)
n.336-126118A>C
c.349A>C (p.Lys117Gln)
c.5668A>C (p.Lys1890Gln)
c.5323A>C (p.Lys1775Gln)
c.1669A>C (p.Lys557Gln)
c.5563A>C (p.Lys1855Gln)
c.5554A>C (p.Lys1852Gln)
c.5569A>C (p.Lys1857Gln)
Xg.32343182T>ACA412665806DMDc.537A>T (p.Glu179Asp)
c.5691A>T (p.Glu1897Asp)
c.1659A>T (p.Glu553Asp)
c.5679A>T (p.Glu1893Asp)
n.336-126119A>T
c.348A>T (p.Glu116Asp)
c.5667A>T (p.Glu1889Asp)
c.5322A>T (p.Glu1774Asp)
c.1668A>T (p.Glu556Asp)
c.5562A>T (p.Glu1854Asp)
c.5553A>T (p.Glu1851Asp)
c.5568A>T (p.Glu1856Asp)
Xg.32343182T>CCA515713854DMDc.537A>G (p.Glu179=)
c.5691A>G (p.Glu1897=)
c.1659A>G (p.Glu553=)
c.5679A>G (p.Glu1893=)
n.336-126119A>G
c.348A>G (p.Glu116=)
c.5667A>G (p.Glu1889=)
c.5322A>G (p.Glu1774=)
c.1668A>G (p.Glu556=)
c.5562A>G (p.Glu1854=)
c.5553A>G (p.Glu1851=)
c.5568A>G (p.Glu1856=)
 gnomAD v4
Xg.32343182T>GCA412665807DMDc.537A>C (p.Glu179Asp)
c.5691A>C (p.Glu1897Asp)
c.1659A>C (p.Glu553Asp)
c.5679A>C (p.Glu1893Asp)
n.336-126119A>C
c.348A>C (p.Glu116Asp)
c.5667A>C (p.Glu1889Asp)
c.5322A>C (p.Glu1774Asp)
c.1668A>C (p.Glu556Asp)
c.5562A>C (p.Glu1854Asp)
c.5553A>C (p.Glu1851Asp)
c.5568A>C (p.Glu1856Asp)
Xg.32343183T>ACA412665808DMDc.536A>T (p.Glu179Val)
c.5690A>T (p.Glu1897Val)
c.1658A>T (p.Glu553Val)
c.5678A>T (p.Glu1893Val)
n.336-126120A>T
c.347A>T (p.Glu116Val)
c.5666A>T (p.Glu1889Val)
c.5321A>T (p.Glu1774Val)
c.1667A>T (p.Glu556Val)
c.5561A>T (p.Glu1854Val)
c.5552A>T (p.Glu1851Val)
c.5567A>T (p.Glu1856Val)
Xg.32343183T>CCA412665811DMDc.536A>G (p.Glu179Gly)
c.5690A>G (p.Glu1897Gly)
c.1658A>G (p.Glu553Gly)
c.5678A>G (p.Glu1893Gly)
n.336-126120A>G
c.347A>G (p.Glu116Gly)
c.5666A>G (p.Glu1889Gly)
c.5321A>G (p.Glu1774Gly)
c.1667A>G (p.Glu556Gly)
c.5561A>G (p.Glu1854Gly)
c.5552A>G (p.Glu1851Gly)
c.5567A>G (p.Glu1856Gly)
Xg.32343183T>GCA412665817DMDc.536A>C (p.Glu179Ala)
c.5690A>C (p.Glu1897Ala)
c.1658A>C (p.Glu553Ala)
c.5678A>C (p.Glu1893Ala)
n.336-126120A>C
c.347A>C (p.Glu116Ala)
c.5666A>C (p.Glu1889Ala)
c.5321A>C (p.Glu1774Ala)
c.1667A>C (p.Glu556Ala)
c.5561A>C (p.Glu1854Ala)
c.5552A>C (p.Glu1851Ala)
c.5567A>C (p.Glu1856Ala)
Xg.32343183T=CA2422760794DMDc.536A= (p.Glu179=)
c.5690A= (p.Glu1897=)
c.1658A= (p.Glu553=)
c.5678A= (p.Glu1893=)
n.336-126120A=
c.347A= (p.Glu116=)
c.5666A= (p.Glu1889=)
c.5321A= (p.Glu1774=)
c.1667A= (p.Glu556=)
c.5561A= (p.Glu1854=)
c.5552A= (p.Glu1851=)
c.5567A= (p.Glu1856=)
Xg.32343184delCA2695232741DMDc.535del (p.Glu179LysfsTer4)
c.5689del (p.Glu1897LysfsTer4)
c.1657del (p.Glu553LysfsTer4)
c.5677del (p.Glu1893LysfsTer4)
n.336-126121del
c.346del (p.Glu116LysfsTer4)
c.5665del (p.Glu1889LysfsTer4)
c.5320del (p.Glu1774LysfsTer4)
c.1666del (p.Glu556LysfsTer4)
c.5560del (p.Glu1854LysfsTer4)
c.5551del (p.Glu1851LysfsTer4)
c.5566del (p.Glu1856LysfsTer4)
Xg.32343184C>ACA412665823DMDc.535G>T (p.Glu179Ter)
c.5689G>T (p.Glu1897Ter)
c.1657G>T (p.Glu553Ter)
c.5677G>T (p.Glu1893Ter)
n.336-126121G>T
c.346G>T (p.Glu116Ter)
c.5665G>T (p.Glu1889Ter)
c.5320G>T (p.Glu1774Ter)
c.1666G>T (p.Glu556Ter)
c.5560G>T (p.Glu1854Ter)
c.5551G>T (p.Glu1851Ter)
c.5566G>T (p.Glu1856Ter)
 ClinVar dbSNP
Xg.32343184C=CA2422760795DMDc.535G= (p.Glu179=)
c.5689G= (p.Glu1897=)
c.1657G= (p.Glu553=)
c.5677G= (p.Glu1893=)
n.336-126121G=
c.346G= (p.Glu116=)
c.5665G= (p.Glu1889=)
c.5320G= (p.Glu1774=)
c.1666G= (p.Glu556=)
c.5560G= (p.Glu1854=)
c.5551G= (p.Glu1851=)
c.5566G= (p.Glu1856=)
Xg.32343184C>GCA412665822DMDc.535G>C (p.Glu179Gln)
c.5689G>C (p.Glu1897Gln)
c.1657G>C (p.Glu553Gln)
c.5677G>C (p.Glu1893Gln)
n.336-126121G>C
c.346G>C (p.Glu116Gln)
c.5665G>C (p.Glu1889Gln)
c.5320G>C (p.Glu1774Gln)
c.1666G>C (p.Glu556Gln)
c.5560G>C (p.Glu1854Gln)
c.5551G>C (p.Glu1851Gln)
c.5566G>C (p.Glu1856Gln)
Xg.32343184C>TCA412665820DMDc.535G>A (p.Glu179Lys)
c.5689G>A (p.Glu1897Lys)
c.1657G>A (p.Glu553Lys)
c.5677G>A (p.Glu1893Lys)
n.336-126121G>A
c.346G>A (p.Glu116Lys)
c.5665G>A (p.Glu1889Lys)
c.5320G>A (p.Glu1774Lys)
c.1666G>A (p.Glu556Lys)
c.5560G>A (p.Glu1854Lys)
c.5551G>A (p.Glu1851Lys)
c.5566G>A (p.Glu1856Lys)
Xg.32343184dupCA915950925DMDc.535dup (p.Glu179GlyfsTer9)
c.5689dup (p.Glu1897GlyfsTer9)
c.1657dup (p.Glu553GlyfsTer9)
c.5677dup (p.Glu1893GlyfsTer9)
n.336-126121dup
c.346dup (p.Glu116GlyfsTer9)
c.5665dup (p.Glu1889GlyfsTer9)
c.5320dup (p.Glu1774GlyfsTer9)
c.1666dup (p.Glu556GlyfsTer9)
c.5560dup (p.Glu1854GlyfsTer9)
c.5551dup (p.Glu1851GlyfsTer9)
c.5566dup (p.Glu1856GlyfsTer9)
 ClinVar dbSNP
Xg.32343185A=CA2422760796DMDc.534T= (p.Ile178=)
c.5688T= (p.Ile1896=)
c.1656T= (p.Ile552=)
c.5676T= (p.Ile1892=)
n.336-126122T=
c.345T= (p.Ile115=)
c.5664T= (p.Ile1888=)
c.5319T= (p.Ile1773=)
c.1665T= (p.Ile555=)
c.5559T= (p.Ile1853=)
c.5550T= (p.Ile1850=)
c.5565T= (p.Ile1855=)
Xg.32343185A>CCA412665827DMDc.534T>G (p.Ile178Met)
c.5688T>G (p.Ile1896Met)
c.1656T>G (p.Ile552Met)
c.5676T>G (p.Ile1892Met)
n.336-126122T>G
c.345T>G (p.Ile115Met)
c.5664T>G (p.Ile1888Met)
c.5319T>G (p.Ile1773Met)
c.1665T>G (p.Ile555Met)
c.5559T>G (p.Ile1853Met)
c.5550T>G (p.Ile1850Met)
c.5565T>G (p.Ile1855Met)
Xg.32343185A>GCA515713872DMDc.534T>C (p.Ile178=)
c.5688T>C (p.Ile1896=)
c.1656T>C (p.Ile552=)
c.5676T>C (p.Ile1892=)
n.336-126122T>C
c.345T>C (p.Ile115=)
c.5664T>C (p.Ile1888=)
c.5319T>C (p.Ile1773=)
c.1665T>C (p.Ile555=)
c.5559T>C (p.Ile1853=)
c.5550T>C (p.Ile1850=)
c.5565T>C (p.Ile1855=)
 ClinVar dbSNP
Xg.32343185A>TCA515713870DMDc.534T>A (p.Ile178=)
c.5688T>A (p.Ile1896=)
c.1656T>A (p.Ile552=)
c.5676T>A (p.Ile1892=)
n.336-126122T>A
c.345T>A (p.Ile115=)
c.5664T>A (p.Ile1888=)
c.5319T>A (p.Ile1773=)
c.1665T>A (p.Ile555=)
c.5559T>A (p.Ile1853=)
c.5550T>A (p.Ile1850=)
c.5565T>A (p.Ile1855=)
Xg.32343186A>CCA412665836DMDc.533T>G (p.Ile178Ser)
c.5687T>G (p.Ile1896Ser)
c.1655T>G (p.Ile552Ser)
c.5675T>G (p.Ile1892Ser)
n.336-126123T>G
c.344T>G (p.Ile115Ser)
c.5663T>G (p.Ile1888Ser)
c.5318T>G (p.Ile1773Ser)
c.1664T>G (p.Ile555Ser)
c.5558T>G (p.Ile1853Ser)
c.5549T>G (p.Ile1850Ser)
c.5564T>G (p.Ile1855Ser)
Xg.32343186A>GCA412665833DMDc.533T>C (p.Ile178Thr)
c.5687T>C (p.Ile1896Thr)
c.1655T>C (p.Ile552Thr)
c.5675T>C (p.Ile1892Thr)
n.336-126123T>C
c.344T>C (p.Ile115Thr)
c.5663T>C (p.Ile1888Thr)
c.5318T>C (p.Ile1773Thr)
c.1664T>C (p.Ile555Thr)
c.5558T>C (p.Ile1853Thr)
c.5549T>C (p.Ile1850Thr)
c.5564T>C (p.Ile1855Thr)
Xg.32343186A>TCA412665837DMDc.533T>A (p.Ile178Asn)
c.5687T>A (p.Ile1896Asn)
c.1655T>A (p.Ile552Asn)
c.5675T>A (p.Ile1892Asn)
n.336-126123T>A
c.344T>A (p.Ile115Asn)
c.5663T>A (p.Ile1888Asn)
c.5318T>A (p.Ile1773Asn)
c.1664T>A (p.Ile555Asn)
c.5558T>A (p.Ile1853Asn)
c.5549T>A (p.Ile1850Asn)
c.5564T>A (p.Ile1855Asn)
Xg.32343187T>ACA412665839DMDc.532A>T (p.Ile178Phe)
c.5686A>T (p.Ile1896Phe)
c.1654A>T (p.Ile552Phe)
c.5674A>T (p.Ile1892Phe)
n.336-126124A>T
c.343A>T (p.Ile115Phe)
c.5662A>T (p.Ile1888Phe)
c.5317A>T (p.Ile1773Phe)
c.1663A>T (p.Ile555Phe)
c.5557A>T (p.Ile1853Phe)
c.5548A>T (p.Ile1850Phe)
c.5563A>T (p.Ile1855Phe)
Xg.32343187T>CCA412665840DMDc.532A>G (p.Ile178Val)
c.5686A>G (p.Ile1896Val)
c.1654A>G (p.Ile552Val)
c.5674A>G (p.Ile1892Val)
n.336-126124A>G
c.343A>G (p.Ile115Val)
c.5662A>G (p.Ile1888Val)
c.5317A>G (p.Ile1773Val)
c.1663A>G (p.Ile555Val)
c.5557A>G (p.Ile1853Val)
c.5548A>G (p.Ile1850Val)
c.5563A>G (p.Ile1855Val)
Xg.32343187T>GCA412665841DMDc.532A>C (p.Ile178Leu)
c.5686A>C (p.Ile1896Leu)
c.1654A>C (p.Ile552Leu)
c.5674A>C (p.Ile1892Leu)
n.336-126124A>C
c.343A>C (p.Ile115Leu)
c.5662A>C (p.Ile1888Leu)
c.5317A>C (p.Ile1773Leu)
c.1663A>C (p.Ile555Leu)
c.5557A>C (p.Ile1853Leu)
c.5548A>C (p.Ile1850Leu)
c.5563A>C (p.Ile1855Leu)
Xg.32343188G>ACA515713886DMDc.531C>T (p.Asp177=)
c.5685C>T (p.Asp1895=)
c.1653C>T (p.Asp551=)
c.5673C>T (p.Asp1891=)
n.336-126125C>T
c.342C>T (p.Asp114=)
c.5661C>T (p.Asp1887=)
c.5316C>T (p.Asp1772=)
c.1662C>T (p.Asp554=)
c.5556C>T (p.Asp1852=)
c.5547C>T (p.Asp1849=)
c.5562C>T (p.Asp1854=)
 gnomAD v4
Xg.32343188G>CCA412665842DMDc.531C>G (p.Asp177Glu)
c.5685C>G (p.Asp1895Glu)
c.1653C>G (p.Asp551Glu)
c.5673C>G (p.Asp1891Glu)
n.336-126125C>G
c.342C>G (p.Asp114Glu)
c.5661C>G (p.Asp1887Glu)
c.5316C>G (p.Asp1772Glu)
c.1662C>G (p.Asp554Glu)
c.5556C>G (p.Asp1852Glu)
c.5547C>G (p.Asp1849Glu)
c.5562C>G (p.Asp1854Glu)
Xg.32343188G>TCA412665843DMDc.531C>A (p.Asp177Glu)
c.5685C>A (p.Asp1895Glu)
c.1653C>A (p.Asp551Glu)
c.5673C>A (p.Asp1891Glu)
n.336-126125C>A
c.342C>A (p.Asp114Glu)
c.5661C>A (p.Asp1887Glu)
c.5316C>A (p.Asp1772Glu)
c.1662C>A (p.Asp554Glu)
c.5556C>A (p.Asp1852Glu)
c.5547C>A (p.Asp1849Glu)
c.5562C>A (p.Asp1854Glu)
Xg.32343189T>ACA10378623DMDc.530A>T (p.Asp177Val)
c.5684A>T (p.Asp1895Val)
c.1652A>T (p.Asp551Val)
c.5672A>T (p.Asp1891Val)
n.336-126126A>T
c.341A>T (p.Asp114Val)
c.5660A>T (p.Asp1887Val)
c.5315A>T (p.Asp1772Val)
c.1661A>T (p.Asp554Val)
c.5555A>T (p.Asp1852Val)
c.5546A>T (p.Asp1849Val)
c.5561A>T (p.Asp1854Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343189T>CCA412665855DMDc.530A>G (p.Asp177Gly)
c.5684A>G (p.Asp1895Gly)
c.1652A>G (p.Asp551Gly)
c.5672A>G (p.Asp1891Gly)
n.336-126126A>G
c.341A>G (p.Asp114Gly)
c.5660A>G (p.Asp1887Gly)
c.5315A>G (p.Asp1772Gly)
c.1661A>G (p.Asp554Gly)
c.5555A>G (p.Asp1852Gly)
c.5546A>G (p.Asp1849Gly)
c.5561A>G (p.Asp1854Gly)
 ClinVar dbSNP gnomAD v4
Xg.32343189T>GCA10378624DMDc.530A>C (p.Asp177Ala)
c.5684A>C (p.Asp1895Ala)
c.1652A>C (p.Asp551Ala)
c.5672A>C (p.Asp1891Ala)
n.336-126126A>C
c.341A>C (p.Asp114Ala)
c.5660A>C (p.Asp1887Ala)
c.5315A>C (p.Asp1772Ala)
c.1661A>C (p.Asp554Ala)
c.5555A>C (p.Asp1852Ala)
c.5546A>C (p.Asp1849Ala)
c.5561A>C (p.Asp1854Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32343189T=CA2422760797DMDc.530A= (p.Asp177=)
c.5684A= (p.Asp1895=)
c.1652A= (p.Asp551=)
c.5672A= (p.Asp1891=)
n.336-126126A=
c.341A= (p.Asp114=)
c.5660A= (p.Asp1887=)
c.5315A= (p.Asp1772=)
c.1661A= (p.Asp554=)
c.5555A= (p.Asp1852=)
c.5546A= (p.Asp1849=)
c.5561A= (p.Asp1854=)
Xg.32343190C>ACA412665863DMDc.529G>T (p.Asp177Tyr)
c.5683G>T (p.Asp1895Tyr)
c.1651G>T (p.Asp551Tyr)
c.5671G>T (p.Asp1891Tyr)
n.336-126127G>T
c.340G>T (p.Asp114Tyr)
c.5659G>T (p.Asp1887Tyr)
c.5314G>T (p.Asp1772Tyr)
c.1660G>T (p.Asp554Tyr)
c.5554G>T (p.Asp1852Tyr)
c.5545G>T (p.Asp1849Tyr)
c.5560G>T (p.Asp1854Tyr)
Xg.32343190C>GCA412665864DMDc.529G>C (p.Asp177His)
c.5683G>C (p.Asp1895His)
c.1651G>C (p.Asp551His)
c.5671G>C (p.Asp1891His)
n.336-126127G>C
c.340G>C (p.Asp114His)
c.5659G>C (p.Asp1887His)
c.5314G>C (p.Asp1772His)
c.1660G>C (p.Asp554His)
c.5554G>C (p.Asp1852His)
c.5545G>C (p.Asp1849His)
c.5560G>C (p.Asp1854His)
Xg.32343190C>TCA412665865DMDc.529G>A (p.Asp177Asn)
c.5683G>A (p.Asp1895Asn)
c.1651G>A (p.Asp551Asn)
c.5671G>A (p.Asp1891Asn)
n.336-126127G>A
c.340G>A (p.Asp114Asn)
c.5659G>A (p.Asp1887Asn)
c.5314G>A (p.Asp1772Asn)
c.1660G>A (p.Asp554Asn)
c.5554G>A (p.Asp1852Asn)
c.5545G>A (p.Asp1849Asn)
c.5560G>A (p.Asp1854Asn)
 COSMIC COSMIC COSMIC COSMIC
Xg.32343191A=CA2422760798DMDc.528T= (p.Asp176=)
c.5682T= (p.Asp1894=)
c.1650T= (p.Asp550=)
c.5670T= (p.Asp1890=)
n.336-126128T=
c.339T= (p.Asp113=)
c.5658T= (p.Asp1886=)
c.5313T= (p.Asp1771=)
c.1659T= (p.Asp553=)
c.5553T= (p.Asp1851=)
c.5544T= (p.Asp1848=)
c.5559T= (p.Asp1853=)
Xg.32343191A>CCA412665866DMDc.528T>G (p.Asp176Glu)
c.5682T>G (p.Asp1894Glu)
c.1650T>G (p.Asp550Glu)
c.5670T>G (p.Asp1890Glu)
n.336-126128T>G
c.339T>G (p.Asp113Glu)
c.5658T>G (p.Asp1886Glu)
c.5313T>G (p.Asp1771Glu)
c.1659T>G (p.Asp553Glu)
c.5553T>G (p.Asp1851Glu)
c.5544T>G (p.Asp1848Glu)
c.5559T>G (p.Asp1853Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343191A>GCA515713904DMDc.528T>C (p.Asp176=)
c.5682T>C (p.Asp1894=)
c.1650T>C (p.Asp550=)
c.5670T>C (p.Asp1890=)
n.336-126128T>C
c.339T>C (p.Asp113=)
c.5658T>C (p.Asp1886=)
c.5313T>C (p.Asp1771=)
c.1659T>C (p.Asp553=)
c.5553T>C (p.Asp1851=)
c.5544T>C (p.Asp1848=)
c.5559T>C (p.Asp1853=)
Xg.32343191A>TCA10378625DMDc.528T>A (p.Asp176Glu)
c.5682T>A (p.Asp1894Glu)
c.1650T>A (p.Asp550Glu)
c.5670T>A (p.Asp1890Glu)
n.336-126128T>A
c.339T>A (p.Asp113Glu)
c.5658T>A (p.Asp1886Glu)
c.5313T>A (p.Asp1771Glu)
c.1659T>A (p.Asp553Glu)
c.5553T>A (p.Asp1851Glu)
c.5544T>A (p.Asp1848Glu)
c.5559T>A (p.Asp1853Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32343192T>ACA412665869DMDc.527A>T (p.Asp176Val)
c.5681A>T (p.Asp1894Val)
c.1649A>T (p.Asp550Val)
c.5669A>T (p.Asp1890Val)
n.336-126129A>T
c.338A>T (p.Asp113Val)
c.5657A>T (p.Asp1886Val)
c.5312A>T (p.Asp1771Val)
c.1658A>T (p.Asp553Val)
c.5552A>T (p.Asp1851Val)
c.5543A>T (p.Asp1848Val)
c.5558A>T (p.Asp1853Val)
 ClinVar
Xg.32343192T>CCA412665871DMDc.527A>G (p.Asp176Gly)
c.5681A>G (p.Asp1894Gly)
c.1649A>G (p.Asp550Gly)
c.5669A>G (p.Asp1890Gly)
n.336-126129A>G
c.338A>G (p.Asp113Gly)
c.5657A>G (p.Asp1886Gly)
c.5312A>G (p.Asp1771Gly)
c.1658A>G (p.Asp553Gly)
c.5552A>G (p.Asp1851Gly)
c.5543A>G (p.Asp1848Gly)
c.5558A>G (p.Asp1853Gly)
Xg.32343192T>GCA412665870DMDc.527A>C (p.Asp176Ala)
c.5681A>C (p.Asp1894Ala)
c.1649A>C (p.Asp550Ala)
c.5669A>C (p.Asp1890Ala)
n.336-126129A>C
c.338A>C (p.Asp113Ala)
c.5657A>C (p.Asp1886Ala)
c.5312A>C (p.Asp1771Ala)
c.1658A>C (p.Asp553Ala)
c.5552A>C (p.Asp1851Ala)
c.5543A>C (p.Asp1848Ala)
c.5558A>C (p.Asp1853Ala)
Xg.32343192_32343193delinsTCCA2422760799DMDc.526_527delinsGA (p.Asp176=)
c.5680_5681delinsGA (p.Asp1894=)
c.1648_1649delinsGA (p.Asp550=)
c.5668_5669delinsGA (p.Asp1890=)
n.336-126130_336-126129delinsGA
c.337_338delinsGA (p.Asp113=)
c.5656_5657delinsGA (p.Asp1886=)
c.5311_5312delinsGA (p.Asp1771=)
c.1657_1658delinsGA (p.Asp553=)
c.5551_5552delinsGA (p.Asp1851=)
c.5542_5543delinsGA (p.Asp1848=)
c.5557_5558delinsGA (p.Asp1853=)
Xg.32343193C>ACA412665872DMDc.526G>T (p.Asp176Tyr)
c.5680G>T (p.Asp1894Tyr)
c.1648G>T (p.Asp550Tyr)
c.5668G>T (p.Asp1890Tyr)
n.336-126130G>T
c.337G>T (p.Asp113Tyr)
c.5656G>T (p.Asp1886Tyr)
c.5311G>T (p.Asp1771Tyr)
c.1657G>T (p.Asp553Tyr)
c.5551G>T (p.Asp1851Tyr)
c.5542G>T (p.Asp1848Tyr)
c.5557G>T (p.Asp1853Tyr)
Xg.32343193C=CA2422760800DMDc.526G= (p.Asp176=)
c.5680G= (p.Asp1894=)
c.1648G= (p.Asp550=)
c.5668G= (p.Asp1890=)
n.336-126130G=
c.337G= (p.Asp113=)
c.5656G= (p.Asp1886=)
c.5311G= (p.Asp1771=)
c.1657G= (p.Asp553=)
c.5551G= (p.Asp1851=)
c.5542G= (p.Asp1848=)
c.5557G= (p.Asp1853=)
Xg.32343193C>GCA412665873DMDc.526G>C (p.Asp176His)
c.5680G>C (p.Asp1894His)
c.1648G>C (p.Asp550His)
c.5668G>C (p.Asp1890His)
n.336-126130G>C
c.337G>C (p.Asp113His)
c.5656G>C (p.Asp1886His)
c.5311G>C (p.Asp1771His)
c.1657G>C (p.Asp553His)
c.5551G>C (p.Asp1851His)
c.5542G>C (p.Asp1848His)
c.5557G>C (p.Asp1853His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343193C>TCA412665874DMDc.526G>A (p.Asp176Asn)
c.5680G>A (p.Asp1894Asn)
c.1648G>A (p.Asp550Asn)
c.5668G>A (p.Asp1890Asn)
n.336-126130G>A
c.337G>A (p.Asp113Asn)
c.5656G>A (p.Asp1886Asn)
c.5311G>A (p.Asp1771Asn)
c.1657G>A (p.Asp553Asn)
c.5551G>A (p.Asp1851Asn)
c.5542G>A (p.Asp1848Asn)
c.5557G>A (p.Asp1853Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32343194delCA913191128DMDc.526del (p.Asp176MetfsTer7)
c.5680del (p.Asp1894MetfsTer7)
c.1648del (p.Asp550MetfsTer7)
c.5668del (p.Asp1890MetfsTer7)
n.336-126130del
c.337del (p.Asp113MetfsTer7)
c.5656del (p.Asp1886MetfsTer7)
c.5311del (p.Asp1771MetfsTer7)
c.1657del (p.Asp553MetfsTer7)
c.5551del (p.Asp1851MetfsTer7)
c.5542del (p.Asp1848MetfsTer7)
c.5557del (p.Asp1853MetfsTer7)
 ClinVar dbSNP
Xg.32343194C>ACA412665876DMDc.525G>T (p.Leu175Phe)
c.5679G>T (p.Leu1893Phe)
c.1647G>T (p.Leu549Phe)
c.5667G>T (p.Leu1889Phe)
n.336-126131G>T
c.336G>T (p.Leu112Phe)
c.5655G>T (p.Leu1885Phe)
c.5310G>T (p.Leu1770Phe)
c.1656G>T (p.Leu552Phe)
c.5550G>T (p.Leu1850Phe)
c.5541G>T (p.Leu1847Phe)
c.5556G>T (p.Leu1852Phe)
Xg.32343194C>GCA412665878DMDc.525G>C (p.Leu175Phe)
c.5679G>C (p.Leu1893Phe)
c.1647G>C (p.Leu549Phe)
c.5667G>C (p.Leu1889Phe)
n.336-126131G>C
c.336G>C (p.Leu112Phe)
c.5655G>C (p.Leu1885Phe)
c.5310G>C (p.Leu1770Phe)
c.1656G>C (p.Leu552Phe)
c.5550G>C (p.Leu1850Phe)
c.5541G>C (p.Leu1847Phe)
c.5556G>C (p.Leu1852Phe)
Xg.32343194C>TCA515713919DMDc.525G>A (p.Leu175=)
c.5679G>A (p.Leu1893=)
c.1647G>A (p.Leu549=)
c.5667G>A (p.Leu1889=)
n.336-126131G>A
c.336G>A (p.Leu112=)
c.5655G>A (p.Leu1885=)
c.5310G>A (p.Leu1770=)
c.1656G>A (p.Leu552=)
c.5550G>A (p.Leu1850=)
c.5541G>A (p.Leu1847=)
c.5556G>A (p.Leu1852=)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32343195A>CCA412665880DMDc.524T>G (p.Leu175Trp)
c.5678T>G (p.Leu1893Trp)
c.1646T>G (p.Leu549Trp)
c.5666T>G (p.Leu1889Trp)
n.336-126132T>G
c.335T>G (p.Leu112Trp)
c.5654T>G (p.Leu1885Trp)
c.5309T>G (p.Leu1770Trp)
c.1655T>G (p.Leu552Trp)
c.5549T>G (p.Leu1850Trp)
c.5540T>G (p.Leu1847Trp)
c.5555T>G (p.Leu1852Trp)
Xg.32343195A>GCA412665881DMDc.524T>C (p.Leu175Ser)
c.5678T>C (p.Leu1893Ser)
c.1646T>C (p.Leu549Ser)
c.5666T>C (p.Leu1889Ser)
n.336-126132T>C
c.335T>C (p.Leu112Ser)
c.5654T>C (p.Leu1885Ser)
c.5309T>C (p.Leu1770Ser)
c.1655T>C (p.Leu552Ser)
c.5549T>C (p.Leu1850Ser)
c.5540T>C (p.Leu1847Ser)
c.5555T>C (p.Leu1852Ser)
Xg.32343195A>TCA412665882DMDc.524T>A (p.Leu175Ter)
c.5678T>A (p.Leu1893Ter)
c.1646T>A (p.Leu549Ter)
c.5666T>A (p.Leu1889Ter)
n.336-126132T>A
c.335T>A (p.Leu112Ter)
c.5654T>A (p.Leu1885Ter)
c.5309T>A (p.Leu1770Ter)
c.1655T>A (p.Leu552Ter)
c.5549T>A (p.Leu1850Ter)
c.5540T>A (p.Leu1847Ter)
c.5555T>A (p.Leu1852Ter)
Xg.32343196A=CA2422760801DMDc.523T= (p.Leu175=)
c.5677T= (p.Leu1893=)
c.1645T= (p.Leu549=)
c.5665T= (p.Leu1889=)
n.336-126133T=
c.334T= (p.Leu112=)
c.5653T= (p.Leu1885=)
c.5308T= (p.Leu1770=)
c.1654T= (p.Leu552=)
c.5548T= (p.Leu1850=)
c.5539T= (p.Leu1847=)
c.5554T= (p.Leu1852=)
Xg.32343196A>CCA412665883DMDc.523T>G (p.Leu175Val)
c.5677T>G (p.Leu1893Val)
c.1645T>G (p.Leu549Val)
c.5665T>G (p.Leu1889Val)
n.336-126133T>G
c.334T>G (p.Leu112Val)
c.5653T>G (p.Leu1885Val)
c.5308T>G (p.Leu1770Val)
c.1654T>G (p.Leu552Val)
c.5548T>G (p.Leu1850Val)
c.5539T>G (p.Leu1847Val)
c.5554T>G (p.Leu1852Val)
Xg.32343196A>GCA10378626DMDc.523T>C (p.Leu175=)
c.5677T>C (p.Leu1893=)
c.1645T>C (p.Leu549=)
c.5665T>C (p.Leu1889=)
n.336-126133T>C
c.334T>C (p.Leu112=)
c.5653T>C (p.Leu1885=)
c.5308T>C (p.Leu1770=)
c.1654T>C (p.Leu552=)
c.5548T>C (p.Leu1850=)
c.5539T>C (p.Leu1847=)
c.5554T>C (p.Leu1852=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343196A>TCA412665892DMDc.523T>A (p.Leu175Met)
c.5677T>A (p.Leu1893Met)
c.1645T>A (p.Leu549Met)
c.5665T>A (p.Leu1889Met)
n.336-126133T>A
c.334T>A (p.Leu112Met)
c.5653T>A (p.Leu1885Met)
c.5308T>A (p.Leu1770Met)
c.1654T>A (p.Leu552Met)
c.5548T>A (p.Leu1850Met)
c.5539T>A (p.Leu1847Met)
c.5554T>A (p.Leu1852Met)
Xg.32343197G>ACA515713933DMDc.522C>T (p.Cys174=)
c.5676C>T (p.Cys1892=)
c.1644C>T (p.Cys548=)
c.5664C>T (p.Cys1888=)
n.336-126134C>T
c.333C>T (p.Cys111=)
c.5652C>T (p.Cys1884=)
c.5307C>T (p.Cys1769=)
c.1653C>T (p.Cys551=)
c.5547C>T (p.Cys1849=)
c.5538C>T (p.Cys1846=)
c.5553C>T (p.Cys1851=)
 dbSNP gnomAD v3 gnomAD v4
Xg.32343197G>CCA412665894DMDc.522C>G (p.Cys174Trp)
c.5676C>G (p.Cys1892Trp)
c.1644C>G (p.Cys548Trp)
c.5664C>G (p.Cys1888Trp)
n.336-126134C>G
c.333C>G (p.Cys111Trp)
c.5652C>G (p.Cys1884Trp)
c.5307C>G (p.Cys1769Trp)
c.1653C>G (p.Cys551Trp)
c.5547C>G (p.Cys1849Trp)
c.5538C>G (p.Cys1846Trp)
c.5553C>G (p.Cys1851Trp)
 gnomAD v4
Xg.32343197G=CA2422760802DMDc.522C= (p.Cys174=)
c.5676C= (p.Cys1892=)
c.1644C= (p.Cys548=)
c.5664C= (p.Cys1888=)
n.336-126134C=
c.333C= (p.Cys111=)
c.5652C= (p.Cys1884=)
c.5307C= (p.Cys1769=)
c.1653C= (p.Cys551=)
c.5547C= (p.Cys1849=)
c.5538C= (p.Cys1846=)
c.5553C= (p.Cys1851=)
Xg.32343197G>TCA412665895DMDc.522C>A (p.Cys174Ter)
c.5676C>A (p.Cys1892Ter)
c.1644C>A (p.Cys548Ter)
c.5664C>A (p.Cys1888Ter)
n.336-126134C>A
c.333C>A (p.Cys111Ter)
c.5652C>A (p.Cys1884Ter)
c.5307C>A (p.Cys1769Ter)
c.1653C>A (p.Cys551Ter)
c.5547C>A (p.Cys1849Ter)
c.5538C>A (p.Cys1846Ter)
c.5553C>A (p.Cys1851Ter)
Xg.32343198C>ACA412665897DMDc.521G>T (p.Cys174Phe)
c.5675G>T (p.Cys1892Phe)
c.1643G>T (p.Cys548Phe)
c.5663G>T (p.Cys1888Phe)
n.336-126135G>T
c.332G>T (p.Cys111Phe)
c.5651G>T (p.Cys1884Phe)
c.5306G>T (p.Cys1769Phe)
c.1652G>T (p.Cys551Phe)
c.5546G>T (p.Cys1849Phe)
c.5537G>T (p.Cys1846Phe)
c.5552G>T (p.Cys1851Phe)
Xg.32343198C=CA2422760803DMDc.521G= (p.Cys174=)
c.5675G= (p.Cys1892=)
c.1643G= (p.Cys548=)
c.5663G= (p.Cys1888=)
n.336-126135G=
c.332G= (p.Cys111=)
c.5651G= (p.Cys1884=)
c.5306G= (p.Cys1769=)
c.1652G= (p.Cys551=)
c.5546G= (p.Cys1849=)
c.5537G= (p.Cys1846=)
c.5552G= (p.Cys1851=)
Xg.32343198C>GCA412665901DMDc.521G>C (p.Cys174Ser)
c.5675G>C (p.Cys1892Ser)
c.1643G>C (p.Cys548Ser)
c.5663G>C (p.Cys1888Ser)
n.336-126135G>C
c.332G>C (p.Cys111Ser)
c.5651G>C (p.Cys1884Ser)
c.5306G>C (p.Cys1769Ser)
c.1652G>C (p.Cys551Ser)
c.5546G>C (p.Cys1849Ser)
c.5537G>C (p.Cys1846Ser)
c.5552G>C (p.Cys1851Ser)
 gnomAD v4
Xg.32343198C>TCA308400DMDc.521G>A (p.Cys174Tyr)
c.5675G>A (p.Cys1892Tyr)
c.1643G>A (p.Cys548Tyr)
c.5663G>A (p.Cys1888Tyr)
n.336-126135G>A
c.332G>A (p.Cys111Tyr)
c.5651G>A (p.Cys1884Tyr)
c.5306G>A (p.Cys1769Tyr)
c.1652G>A (p.Cys551Tyr)
c.5546G>A (p.Cys1849Tyr)
c.5537G>A (p.Cys1846Tyr)
c.5552G>A (p.Cys1851Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343199A=CA2422760804DMDc.520T= (p.Cys174=)
c.5674T= (p.Cys1892=)
c.1642T= (p.Cys548=)
c.5662T= (p.Cys1888=)
n.336-126136T=
c.331T= (p.Cys111=)
c.5650T= (p.Cys1884=)
c.5305T= (p.Cys1769=)
c.1651T= (p.Cys551=)
c.5545T= (p.Cys1849=)
c.5536T= (p.Cys1846=)
c.5551T= (p.Cys1851=)
Xg.32343199A>CCA412665903DMDc.520T>G (p.Cys174Gly)
c.5674T>G (p.Cys1892Gly)
c.1642T>G (p.Cys548Gly)
c.5662T>G (p.Cys1888Gly)
n.336-126136T>G
c.331T>G (p.Cys111Gly)
c.5650T>G (p.Cys1884Gly)
c.5305T>G (p.Cys1769Gly)
c.1651T>G (p.Cys551Gly)
c.5545T>G (p.Cys1849Gly)
c.5536T>G (p.Cys1846Gly)
c.5551T>G (p.Cys1851Gly)
Xg.32343199A>GCA412665907DMDc.520T>C (p.Cys174Arg)
c.5674T>C (p.Cys1892Arg)
c.1642T>C (p.Cys548Arg)
c.5662T>C (p.Cys1888Arg)
n.336-126136T>C
c.331T>C (p.Cys111Arg)
c.5650T>C (p.Cys1884Arg)
c.5305T>C (p.Cys1769Arg)
c.1651T>C (p.Cys551Arg)
c.5545T>C (p.Cys1849Arg)
c.5536T>C (p.Cys1846Arg)
c.5551T>C (p.Cys1851Arg)
 dbSNP gnomAD v2
Xg.32343199A>TCA412665908DMDc.520T>A (p.Cys174Ser)
c.5674T>A (p.Cys1892Ser)
c.1642T>A (p.Cys548Ser)
c.5662T>A (p.Cys1888Ser)
n.336-126136T>A
c.331T>A (p.Cys111Ser)
c.5650T>A (p.Cys1884Ser)
c.5305T>A (p.Cys1769Ser)
c.1651T>A (p.Cys551Ser)
c.5545T>A (p.Cys1849Ser)
c.5536T>A (p.Cys1846Ser)
c.5551T>A (p.Cys1851Ser)
 COSMIC COSMIC COSMIC COSMIC
Xg.32343200T>ACA412665910DMDc.519A>T (p.Lys173Asn)
c.5673A>T (p.Lys1891Asn)
c.1641A>T (p.Lys547Asn)
c.5661A>T (p.Lys1887Asn)
n.336-126137A>T
c.330A>T (p.Lys110Asn)
c.5649A>T (p.Lys1883Asn)
c.5304A>T (p.Lys1768Asn)
c.1650A>T (p.Lys550Asn)
c.5544A>T (p.Lys1848Asn)
c.5535A>T (p.Lys1845Asn)
c.5550A>T (p.Lys1850Asn)
Xg.32343200T>CCA515713944DMDc.519A>G (p.Lys173=)
c.5673A>G (p.Lys1891=)
c.1641A>G (p.Lys547=)
c.5661A>G (p.Lys1887=)
n.336-126137A>G
c.330A>G (p.Lys110=)
c.5649A>G (p.Lys1883=)
c.5304A>G (p.Lys1768=)
c.1650A>G (p.Lys550=)
c.5544A>G (p.Lys1848=)
c.5535A>G (p.Lys1845=)
c.5550A>G (p.Lys1850=)
 COSMIC COSMIC COSMIC COSMIC
Xg.32343200T>GCA412665909DMDc.519A>C (p.Lys173Asn)
c.5673A>C (p.Lys1891Asn)
c.1641A>C (p.Lys547Asn)
c.5661A>C (p.Lys1887Asn)
n.336-126137A>C
c.330A>C (p.Lys110Asn)
c.5649A>C (p.Lys1883Asn)
c.5304A>C (p.Lys1768Asn)
c.1650A>C (p.Lys550Asn)
c.5544A>C (p.Lys1848Asn)
c.5535A>C (p.Lys1845Asn)
c.5550A>C (p.Lys1850Asn)
Xg.32343201T>ACA10378627DMDc.518A>T (p.Lys173Ile)
c.5672A>T (p.Lys1891Ile)
c.1640A>T (p.Lys547Ile)
c.5660A>T (p.Lys1887Ile)
n.336-126138A>T
c.329A>T (p.Lys110Ile)
c.5648A>T (p.Lys1883Ile)
c.5303A>T (p.Lys1768Ile)
c.1649A>T (p.Lys550Ile)
c.5543A>T (p.Lys1848Ile)
c.5534A>T (p.Lys1845Ile)
c.5549A>T (p.Lys1850Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32343201T>CCA412665913DMDc.518A>G (p.Lys173Arg)
c.5672A>G (p.Lys1891Arg)
c.1640A>G (p.Lys547Arg)
c.5660A>G (p.Lys1887Arg)
n.336-126138A>G
c.329A>G (p.Lys110Arg)
c.5648A>G (p.Lys1883Arg)
c.5303A>G (p.Lys1768Arg)
c.1649A>G (p.Lys550Arg)
c.5543A>G (p.Lys1848Arg)
c.5534A>G (p.Lys1845Arg)
c.5549A>G (p.Lys1850Arg)
Xg.32343201T>GCA412665915DMDc.518A>C (p.Lys173Thr)
c.5672A>C (p.Lys1891Thr)
c.1640A>C (p.Lys547Thr)
c.5660A>C (p.Lys1887Thr)
n.336-126138A>C
c.329A>C (p.Lys110Thr)
c.5648A>C (p.Lys1883Thr)
c.5303A>C (p.Lys1768Thr)
c.1649A>C (p.Lys550Thr)
c.5543A>C (p.Lys1848Thr)
c.5534A>C (p.Lys1845Thr)
c.5549A>C (p.Lys1850Thr)
Xg.32343201T=CA2422760805DMDc.518A= (p.Lys173=)
c.5672A= (p.Lys1891=)
c.1640A= (p.Lys547=)
c.5660A= (p.Lys1887=)
n.336-126138A=
c.329A= (p.Lys110=)
c.5648A= (p.Lys1883=)
c.5303A= (p.Lys1768=)
c.1649A= (p.Lys550=)
c.5543A= (p.Lys1848=)
c.5534A= (p.Lys1845=)
c.5549A= (p.Lys1850=)
Xg.32343202T>ACA267074DMDc.517A>T (p.Lys173Ter)
c.5671A>T (p.Lys1891Ter)
c.1639A>T (p.Lys547Ter)
c.5659A>T (p.Lys1887Ter)
n.336-126139A>T
c.328A>T (p.Lys110Ter)
c.5647A>T (p.Lys1883Ter)
c.5302A>T (p.Lys1768Ter)
c.1648A>T (p.Lys550Ter)
c.5542A>T (p.Lys1848Ter)
c.5533A>T (p.Lys1845Ter)
c.5548A>T (p.Lys1850Ter)
 dbSNP
Xg.32343202T>CCA412665922DMDc.517A>G (p.Lys173Glu)
c.5671A>G (p.Lys1891Glu)
c.1639A>G (p.Lys547Glu)
c.5659A>G (p.Lys1887Glu)
n.336-126139A>G
c.328A>G (p.Lys110Glu)
c.5647A>G (p.Lys1883Glu)
c.5302A>G (p.Lys1768Glu)
c.1648A>G (p.Lys550Glu)
c.5542A>G (p.Lys1848Glu)
c.5533A>G (p.Lys1845Glu)
c.5548A>G (p.Lys1850Glu)
Xg.32343202T>GCA412665924DMDc.517A>C (p.Lys173Gln)
c.5671A>C (p.Lys1891Gln)
c.1639A>C (p.Lys547Gln)
c.5659A>C (p.Lys1887Gln)
n.336-126139A>C
c.328A>C (p.Lys110Gln)
c.5647A>C (p.Lys1883Gln)
c.5302A>C (p.Lys1768Gln)
c.1648A>C (p.Lys550Gln)
c.5542A>C (p.Lys1848Gln)
c.5533A>C (p.Lys1845Gln)
c.5548A>C (p.Lys1850Gln)
Xg.32343202T=CA2422760806DMDc.517A= (p.Lys173=)
c.5671A= (p.Lys1891=)
c.1639A= (p.Lys547=)
c.5659A= (p.Lys1887=)
n.336-126139A=
c.328A= (p.Lys110=)
c.5647A= (p.Lys1883=)
c.5302A= (p.Lys1768=)
c.1648A= (p.Lys550=)
c.5542A= (p.Lys1848=)
c.5533A= (p.Lys1845=)
c.5548A= (p.Lys1850=)
Xg.32343203C>ACA515713956DMDc.516G>T (p.Leu172=)
c.5670G>T (p.Leu1890=)
c.1638G>T (p.Leu546=)
c.5658G>T (p.Leu1886=)
n.336-126140G>T
c.327G>T (p.Leu109=)
c.5646G>T (p.Leu1882=)
c.5301G>T (p.Leu1767=)
c.1647G>T (p.Leu549=)
c.5541G>T (p.Leu1847=)
c.5532G>T (p.Leu1844=)
c.5547G>T (p.Leu1849=)
Xg.32343203C>GCA515713958DMDc.516G>C (p.Leu172=)
c.5670G>C (p.Leu1890=)
c.1638G>C (p.Leu546=)
c.5658G>C (p.Leu1886=)
n.336-126140G>C
c.327G>C (p.Leu109=)
c.5646G>C (p.Leu1882=)
c.5301G>C (p.Leu1767=)
c.1647G>C (p.Leu549=)
c.5541G>C (p.Leu1847=)
c.5532G>C (p.Leu1844=)
c.5547G>C (p.Leu1849=)
Xg.32343203C>TCA515713959DMDc.516G>A (p.Leu172=)
c.5670G>A (p.Leu1890=)
c.1638G>A (p.Leu546=)
c.5658G>A (p.Leu1886=)
n.336-126140G>A
c.327G>A (p.Leu109=)
c.5646G>A (p.Leu1882=)
c.5301G>A (p.Leu1767=)
c.1647G>A (p.Leu549=)
c.5541G>A (p.Leu1847=)
c.5532G>A (p.Leu1844=)
c.5547G>A (p.Leu1849=)
Xg.32343204A>CCA412665930DMDc.515T>G (p.Leu172Arg)
c.5669T>G (p.Leu1890Arg)
c.1637T>G (p.Leu546Arg)
c.5657T>G (p.Leu1886Arg)
n.336-126141T>G
c.326T>G (p.Leu109Arg)
c.5645T>G (p.Leu1882Arg)
c.5300T>G (p.Leu1767Arg)
c.1646T>G (p.Leu549Arg)
c.5540T>G (p.Leu1847Arg)
c.5531T>G (p.Leu1844Arg)
c.5546T>G (p.Leu1849Arg)
Xg.32343204A>GCA412665932DMDc.515T>C (p.Leu172Pro)
c.5669T>C (p.Leu1890Pro)
c.1637T>C (p.Leu546Pro)
c.5657T>C (p.Leu1886Pro)
n.336-126141T>C
c.326T>C (p.Leu109Pro)
c.5645T>C (p.Leu1882Pro)
c.5300T>C (p.Leu1767Pro)
c.1646T>C (p.Leu549Pro)
c.5540T>C (p.Leu1847Pro)
c.5531T>C (p.Leu1844Pro)
c.5546T>C (p.Leu1849Pro)
Xg.32343204A>TCA412665931DMDc.515T>A (p.Leu172Gln)
c.5669T>A (p.Leu1890Gln)
c.1637T>A (p.Leu546Gln)
c.5657T>A (p.Leu1886Gln)
n.336-126141T>A
c.326T>A (p.Leu109Gln)
c.5645T>A (p.Leu1882Gln)
c.5300T>A (p.Leu1767Gln)
c.1646T>A (p.Leu549Gln)
c.5540T>A (p.Leu1847Gln)
c.5531T>A (p.Leu1844Gln)
c.5546T>A (p.Leu1849Gln)
Xg.32343206_32343208delCA2693393767DMDc.513_515del (p.Leu172del)
c.5667_5669del (p.Leu1890del)
c.1635_1637del (p.Leu546del)
c.5655_5657del (p.Leu1886del)
n.336-126143_336-126141del
c.324_326del (p.Leu109del)
c.5643_5645del (p.Leu1882del)
c.5298_5300del (p.Leu1767del)
c.1644_1646del (p.Leu549del)
c.5538_5540del (p.Leu1847del)
c.5529_5531del (p.Leu1844del)
c.5544_5546del (p.Leu1849del)
 gnomAD v4
Xg.32343205G>ACA515713966DMDc.514C>T (p.Leu172=)
c.5668C>T (p.Leu1890=)
c.1636C>T (p.Leu546=)
c.5656C>T (p.Leu1886=)
n.336-126142C>T
c.325C>T (p.Leu109=)
c.5644C>T (p.Leu1882=)
c.5299C>T (p.Leu1767=)
c.1645C>T (p.Leu549=)
c.5539C>T (p.Leu1847=)
c.5530C>T (p.Leu1844=)
c.5545C>T (p.Leu1849=)
 COSMIC COSMIC COSMIC
Xg.32343205G>CCA412665934DMDc.514C>G (p.Leu172Val)
c.5668C>G (p.Leu1890Val)
c.1636C>G (p.Leu546Val)
c.5656C>G (p.Leu1886Val)
n.336-126142C>G
c.325C>G (p.Leu109Val)
c.5644C>G (p.Leu1882Val)
c.5299C>G (p.Leu1767Val)
c.1645C>G (p.Leu549Val)
c.5539C>G (p.Leu1847Val)
c.5530C>G (p.Leu1844Val)
c.5545C>G (p.Leu1849Val)
Xg.32343205G>TCA412665936DMDc.514C>A (p.Leu172Met)
c.5668C>A (p.Leu1890Met)
c.1636C>A (p.Leu546Met)
c.5656C>A (p.Leu1886Met)
n.336-126142C>A
c.325C>A (p.Leu109Met)
c.5644C>A (p.Leu1882Met)
c.5299C>A (p.Leu1767Met)
c.1645C>A (p.Leu549Met)
c.5539C>A (p.Leu1847Met)
c.5530C>A (p.Leu1844Met)
c.5545C>A (p.Leu1849Met)
Xg.32343206G>ACA515713967DMDc.513C>T (p.Leu171=)
c.5667C>T (p.Leu1889=)
c.1635C>T (p.Leu545=)
c.5655C>T (p.Leu1885=)
n.336-126143C>T
c.324C>T (p.Leu108=)
c.5643C>T (p.Leu1881=)
c.5298C>T (p.Leu1766=)
c.1644C>T (p.Leu548=)
c.5538C>T (p.Leu1846=)
c.5529C>T (p.Leu1843=)
c.5544C>T (p.Leu1848=)
 ClinVar dbSNP
Xg.32343206G>CCA515713971DMDc.513C>G (p.Leu171=)
c.5667C>G (p.Leu1889=)
c.1635C>G (p.Leu545=)
c.5655C>G (p.Leu1885=)
n.336-126143C>G
c.324C>G (p.Leu108=)
c.5643C>G (p.Leu1881=)
c.5298C>G (p.Leu1766=)
c.1644C>G (p.Leu548=)
c.5538C>G (p.Leu1846=)
c.5529C>G (p.Leu1843=)
c.5544C>G (p.Leu1848=)
 ClinVar
Xg.32343206G>TCA515713969DMDc.513C>A (p.Leu171=)
c.5667C>A (p.Leu1889=)
c.1635C>A (p.Leu545=)
c.5655C>A (p.Leu1885=)
n.336-126143C>A
c.324C>A (p.Leu108=)
c.5643C>A (p.Leu1881=)
c.5298C>A (p.Leu1766=)
c.1644C>A (p.Leu548=)
c.5538C>A (p.Leu1846=)
c.5529C>A (p.Leu1843=)
c.5544C>A (p.Leu1848=)
Xg.32343207A=CA2422760807DMDc.512T= (p.Leu171=)
c.5666T= (p.Leu1889=)
c.1634T= (p.Leu545=)
c.5654T= (p.Leu1885=)
n.336-126144T=
c.323T= (p.Leu108=)
c.5642T= (p.Leu1881=)
c.5297T= (p.Leu1766=)
c.1643T= (p.Leu548=)
c.5537T= (p.Leu1846=)
c.5528T= (p.Leu1843=)
c.5543T= (p.Leu1848=)
Xg.32343207A>CCA412665938DMDc.512T>G (p.Leu171Arg)
c.5666T>G (p.Leu1889Arg)
c.1634T>G (p.Leu545Arg)
c.5654T>G (p.Leu1885Arg)
n.336-126144T>G
c.323T>G (p.Leu108Arg)
c.5642T>G (p.Leu1881Arg)
c.5297T>G (p.Leu1766Arg)
c.1643T>G (p.Leu548Arg)
c.5537T>G (p.Leu1846Arg)
c.5528T>G (p.Leu1843Arg)
c.5543T>G (p.Leu1848Arg)
Xg.32343207A>GCA412665939DMDc.512T>C (p.Leu171Pro)
c.5666T>C (p.Leu1889Pro)
c.1634T>C (p.Leu545Pro)
c.5654T>C (p.Leu1885Pro)
n.336-126144T>C
c.323T>C (p.Leu108Pro)
c.5642T>C (p.Leu1881Pro)
c.5297T>C (p.Leu1766Pro)
c.1643T>C (p.Leu548Pro)
c.5537T>C (p.Leu1846Pro)
c.5528T>C (p.Leu1843Pro)
c.5543T>C (p.Leu1848Pro)
Xg.32343207A>TCA412665940DMDc.512T>A (p.Leu171His)
c.5666T>A (p.Leu1889His)
c.1634T>A (p.Leu545His)
c.5654T>A (p.Leu1885His)
n.336-126144T>A
c.323T>A (p.Leu108His)
c.5642T>A (p.Leu1881His)
c.5297T>A (p.Leu1766His)
c.1643T>A (p.Leu548His)
c.5537T>A (p.Leu1846His)
c.5528T>A (p.Leu1843His)
c.5543T>A (p.Leu1848His)
 dbSNP
Xg.32343208G>ACA412665943DMDc.511C>T (p.Leu171Phe)
c.5665C>T (p.Leu1889Phe)
c.1633C>T (p.Leu545Phe)
c.5653C>T (p.Leu1885Phe)
n.336-126145C>T
c.322C>T (p.Leu108Phe)
c.5641C>T (p.Leu1881Phe)
c.5296C>T (p.Leu1766Phe)
c.1642C>T (p.Leu548Phe)
c.5536C>T (p.Leu1846Phe)
c.5527C>T (p.Leu1843Phe)
c.5542C>T (p.Leu1848Phe)
 dbSNP
Xg.32343208G>CCA412665947DMDc.511C>G (p.Leu171Val)
c.5665C>G (p.Leu1889Val)
c.1633C>G (p.Leu545Val)
c.5653C>G (p.Leu1885Val)
n.336-126145C>G
c.322C>G (p.Leu108Val)
c.5641C>G (p.Leu1881Val)
c.5296C>G (p.Leu1766Val)
c.1642C>G (p.Leu548Val)
c.5536C>G (p.Leu1846Val)
c.5527C>G (p.Leu1843Val)
c.5542C>G (p.Leu1848Val)
Xg.32343208G=CA2422760808DMDc.511C= (p.Leu171=)
c.5665C= (p.Leu1889=)
c.1633C= (p.Leu545=)
c.5653C= (p.Leu1885=)
n.336-126145C=
c.322C= (p.Leu108=)
c.5641C= (p.Leu1881=)
c.5296C= (p.Leu1766=)
c.1642C= (p.Leu548=)
c.5536C= (p.Leu1846=)
c.5527C= (p.Leu1843=)
c.5542C= (p.Leu1848=)
Xg.32343208G>TCA412665950DMDc.511C>A (p.Leu171Ile)
c.5665C>A (p.Leu1889Ile)
c.1633C>A (p.Leu545Ile)
c.5653C>A (p.Leu1885Ile)
n.336-126145C>A
c.322C>A (p.Leu108Ile)
c.5641C>A (p.Leu1881Ile)
c.5296C>A (p.Leu1766Ile)
c.1642C>A (p.Leu548Ile)
c.5536C>A (p.Leu1846Ile)
c.5527C>A (p.Leu1843Ile)
c.5542C>A (p.Leu1848Ile)
Xg.32343209A>CCA412665951DMDc.510T>G (p.Asp170Glu)
c.5664T>G (p.Asp1888Glu)
c.1632T>G (p.Asp544Glu)
c.5652T>G (p.Asp1884Glu)
n.336-126146T>G
c.321T>G (p.Asp107Glu)
c.5640T>G (p.Asp1880Glu)
c.5295T>G (p.Asp1765Glu)
c.1641T>G (p.Asp547Glu)
c.5535T>G (p.Asp1845Glu)
c.5526T>G (p.Asp1842Glu)
c.5541T>G (p.Asp1847Glu)
Xg.32343209A>GCA515713976DMDc.510T>C (p.Asp170=)
c.5664T>C (p.Asp1888=)
c.1632T>C (p.Asp544=)
c.5652T>C (p.Asp1884=)
n.336-126146T>C
c.321T>C (p.Asp107=)
c.5640T>C (p.Asp1880=)
c.5295T>C (p.Asp1765=)
c.1641T>C (p.Asp547=)
c.5535T>C (p.Asp1845=)
c.5526T>C (p.Asp1842=)
c.5541T>C (p.Asp1847=)
Xg.32343209A>TCA412665952DMDc.510T>A (p.Asp170Glu)
c.5664T>A (p.Asp1888Glu)
c.1632T>A (p.Asp544Glu)
c.5652T>A (p.Asp1884Glu)
n.336-126146T>A
c.321T>A (p.Asp107Glu)
c.5640T>A (p.Asp1880Glu)
c.5295T>A (p.Asp1765Glu)
c.1641T>A (p.Asp547Glu)
c.5535T>A (p.Asp1845Glu)
c.5526T>A (p.Asp1842Glu)
c.5541T>A (p.Asp1847Glu)
Xg.32343213_32343215delCA2507367724DMDc.508_510del (p.Asp170del)
c.5662_5664del (p.Asp1888del)
c.1630_1632del (p.Asp544del)
c.5650_5652del (p.Asp1884del)
n.336-126148_336-126146del
c.319_321del (p.Asp107del)
c.5638_5640del (p.Asp1880del)
c.5293_5295del (p.Asp1765del)
c.1639_1641del (p.Asp547del)
c.5533_5535del (p.Asp1845del)
c.5524_5526del (p.Asp1842del)
c.5539_5541del (p.Asp1847del)
Xg.32343210T>ACA412665960DMDc.509A>T (p.Asp170Val)
c.5663A>T (p.Asp1888Val)
c.1631A>T (p.Asp544Val)
c.5651A>T (p.Asp1884Val)
n.336-126147A>T
c.320A>T (p.Asp107Val)
c.5639A>T (p.Asp1880Val)
c.5294A>T (p.Asp1765Val)
c.1640A>T (p.Asp547Val)
c.5534A>T (p.Asp1845Val)
c.5525A>T (p.Asp1842Val)
c.5540A>T (p.Asp1847Val)
Xg.32343210T>CCA412665957DMDc.509A>G (p.Asp170Gly)
c.5663A>G (p.Asp1888Gly)
c.1631A>G (p.Asp544Gly)
c.5651A>G (p.Asp1884Gly)
n.336-126147A>G
c.320A>G (p.Asp107Gly)
c.5639A>G (p.Asp1880Gly)
c.5294A>G (p.Asp1765Gly)
c.1640A>G (p.Asp547Gly)
c.5534A>G (p.Asp1845Gly)
c.5525A>G (p.Asp1842Gly)
c.5540A>G (p.Asp1847Gly)
 ClinVar dbSNP
Xg.32343210T>GCA412665954DMDc.509A>C (p.Asp170Ala)
c.5663A>C (p.Asp1888Ala)
c.1631A>C (p.Asp544Ala)
c.5651A>C (p.Asp1884Ala)
n.336-126147A>C
c.320A>C (p.Asp107Ala)
c.5639A>C (p.Asp1880Ala)
c.5294A>C (p.Asp1765Ala)
c.1640A>C (p.Asp547Ala)
c.5534A>C (p.Asp1845Ala)
c.5525A>C (p.Asp1842Ala)
c.5540A>C (p.Asp1847Ala)
Xg.32343210T=CA2422760809DMDc.509A= (p.Asp170=)
c.5663A= (p.Asp1888=)
c.1631A= (p.Asp544=)
c.5651A= (p.Asp1884=)
n.336-126147A=
c.320A= (p.Asp107=)
c.5639A= (p.Asp1880=)
c.5294A= (p.Asp1765=)
c.1640A= (p.Asp547=)
c.5534A= (p.Asp1845=)
c.5525A= (p.Asp1842=)
c.5540A= (p.Asp1847=)
Xg.32343211delCA2580100655DMDc.508del (p.Asp170IlefsTer3)
c.5662del (p.Asp1888IlefsTer3)
c.1630del (p.Asp544IlefsTer3)
c.5650del (p.Asp1884IlefsTer3)
n.336-126148del
c.319del (p.Asp107IlefsTer3)
c.5638del (p.Asp1880IlefsTer3)
c.5293del (p.Asp1765IlefsTer3)
c.1639del (p.Asp547IlefsTer3)
c.5533del (p.Asp1845IlefsTer3)
c.5524del (p.Asp1842IlefsTer3)
c.5539del (p.Asp1847IlefsTer3)
 ClinVar
Xg.32343211C>ACA412665963DMDc.508G>T (p.Asp170Tyr)
c.5662G>T (p.Asp1888Tyr)
c.1630G>T (p.Asp544Tyr)
c.5650G>T (p.Asp1884Tyr)
n.336-126148G>T
c.319G>T (p.Asp107Tyr)
c.5638G>T (p.Asp1880Tyr)
c.5293G>T (p.Asp1765Tyr)
c.1639G>T (p.Asp547Tyr)
c.5533G>T (p.Asp1845Tyr)
c.5524G>T (p.Asp1842Tyr)
c.5539G>T (p.Asp1847Tyr)
 COSMIC COSMIC COSMIC COSMIC
Xg.32343211C>GCA412665973DMDc.508G>C (p.Asp170His)
c.5662G>C (p.Asp1888His)
c.1630G>C (p.Asp544His)
c.5650G>C (p.Asp1884His)
n.336-126148G>C
c.319G>C (p.Asp107His)
c.5638G>C (p.Asp1880His)
c.5293G>C (p.Asp1765His)
c.1639G>C (p.Asp547His)
c.5533G>C (p.Asp1845His)
c.5524G>C (p.Asp1842His)
c.5539G>C (p.Asp1847His)
Xg.32343211C>TCA412665970DMDc.508G>A (p.Asp170Asn)
c.5662G>A (p.Asp1888Asn)
c.1630G>A (p.Asp544Asn)
c.5650G>A (p.Asp1884Asn)
n.336-126148G>A
c.319G>A (p.Asp107Asn)
c.5638G>A (p.Asp1880Asn)
c.5293G>A (p.Asp1765Asn)
c.1639G>A (p.Asp547Asn)
c.5533G>A (p.Asp1845Asn)
c.5524G>A (p.Asp1842Asn)
c.5539G>A (p.Asp1847Asn)
 ClinVar
Xg.32343212A>CCA412665979DMDc.507T>G (p.Asp169Glu)
c.5661T>G (p.Asp1887Glu)
c.1629T>G (p.Asp543Glu)
c.5649T>G (p.Asp1883Glu)
n.336-126149T>G
c.318T>G (p.Asp106Glu)
c.5637T>G (p.Asp1879Glu)
c.5292T>G (p.Asp1764Glu)
c.1638T>G (p.Asp546Glu)
c.5532T>G (p.Asp1844Glu)
c.5523T>G (p.Asp1841Glu)
c.5538T>G (p.Asp1846Glu)
 gnomAD v4
Xg.32343212A>GCA515713985DMDc.507T>C (p.Asp169=)
c.5661T>C (p.Asp1887=)
c.1629T>C (p.Asp543=)
c.5649T>C (p.Asp1883=)
n.336-126149T>C
c.318T>C (p.Asp106=)
c.5637T>C (p.Asp1879=)
c.5292T>C (p.Asp1764=)
c.1638T>C (p.Asp546=)
c.5532T>C (p.Asp1844=)
c.5523T>C (p.Asp1841=)
c.5538T>C (p.Asp1846=)
 ClinVar
Xg.32343212A>TCA412665980DMDc.507T>A (p.Asp169Glu)
c.5661T>A (p.Asp1887Glu)
c.1629T>A (p.Asp543Glu)
c.5649T>A (p.Asp1883Glu)
n.336-126149T>A
c.318T>A (p.Asp106Glu)
c.5637T>A (p.Asp1879Glu)
c.5292T>A (p.Asp1764Glu)
c.1638T>A (p.Asp546Glu)
c.5532T>A (p.Asp1844Glu)
c.5523T>A (p.Asp1841Glu)
c.5538T>A (p.Asp1846Glu)
Xg.32343213T>ACA412665981DMDc.506A>T (p.Asp169Val)
c.5660A>T (p.Asp1887Val)
c.1628A>T (p.Asp543Val)
c.5648A>T (p.Asp1883Val)
n.336-126150A>T
c.317A>T (p.Asp106Val)
c.5636A>T (p.Asp1879Val)
c.5291A>T (p.Asp1764Val)
c.1637A>T (p.Asp546Val)
c.5531A>T (p.Asp1844Val)
c.5522A>T (p.Asp1841Val)
c.5537A>T (p.Asp1846Val)
Xg.32343213T>CCA412665984DMDc.506A>G (p.Asp169Gly)
c.5660A>G (p.Asp1887Gly)
c.1628A>G (p.Asp543Gly)
c.5648A>G (p.Asp1883Gly)
n.336-126150A>G
c.317A>G (p.Asp106Gly)
c.5636A>G (p.Asp1879Gly)
c.5291A>G (p.Asp1764Gly)
c.1637A>G (p.Asp546Gly)
c.5531A>G (p.Asp1844Gly)
c.5522A>G (p.Asp1841Gly)
c.5537A>G (p.Asp1846Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32343213T>GCA412665988DMDc.506A>C (p.Asp169Ala)
c.5660A>C (p.Asp1887Ala)
c.1628A>C (p.Asp543Ala)
c.5648A>C (p.Asp1883Ala)
n.336-126150A>C
c.317A>C (p.Asp106Ala)
c.5636A>C (p.Asp1879Ala)
c.5291A>C (p.Asp1764Ala)
c.1637A>C (p.Asp546Ala)
c.5531A>C (p.Asp1844Ala)
c.5522A>C (p.Asp1841Ala)
c.5537A>C (p.Asp1846Ala)
Xg.32343213T=CA2422760810DMDc.506A= (p.Asp169=)
c.5660A= (p.Asp1887=)
c.1628A= (p.Asp543=)
c.5648A= (p.Asp1883=)
n.336-126150A=
c.317A= (p.Asp106=)
c.5636A= (p.Asp1879=)
c.5291A= (p.Asp1764=)
c.1637A= (p.Asp546=)
c.5531A= (p.Asp1844=)
c.5522A= (p.Asp1841=)
c.5537A= (p.Asp1846=)
Xg.32343213_32343216delinsCTGACA916079867DMDc.503_506delinsTCAG (p.Ala168_Asp169delinsValSer)
c.5657_5660delinsTCAG (p.Ala1886_Asp1887delinsValSer)
c.1625_1628delinsTCAG (p.Ala542_Asp543delinsValSer)
c.5645_5648delinsTCAG (p.Ala1882_Asp1883delinsValSer)
n.336-126153_336-126150delinsTCAG
c.314_317delinsTCAG (p.Ala105_Asp106delinsValSer)
c.5633_5636delinsTCAG (p.Ala1878_Asp1879delinsValSer)
c.5288_5291delinsTCAG (p.Ala1763_Asp1764delinsValSer)
c.1634_1637delinsTCAG (p.Ala545_Asp546delinsValSer)
c.5528_5531delinsTCAG (p.Ala1843_Asp1844delinsValSer)
c.5519_5522delinsTCAG (p.Ala1840_Asp1841delinsValSer)
c.5534_5537delinsTCAG (p.Ala1845_Asp1846delinsValSer)
Xg.32343214C>ACA412665992DMDc.505G>T (p.Asp169Tyr)
c.5659G>T (p.Asp1887Tyr)
c.1627G>T (p.Asp543Tyr)
c.5647G>T (p.Asp1883Tyr)
n.336-126151G>T
c.316G>T (p.Asp106Tyr)
c.5635G>T (p.Asp1879Tyr)
c.5290G>T (p.Asp1764Tyr)
c.1636G>T (p.Asp546Tyr)
c.5530G>T (p.Asp1844Tyr)
c.5521G>T (p.Asp1841Tyr)
c.5536G>T (p.Asp1846Tyr)
Xg.32343214C=CA2422760811DMDc.505G= (p.Asp169=)
c.5659G= (p.Asp1887=)
c.1627G= (p.Asp543=)
c.5647G= (p.Asp1883=)
n.336-126151G=
c.316G= (p.Asp106=)
c.5635G= (p.Asp1879=)
c.5290G= (p.Asp1764=)
c.1636G= (p.Asp546=)
c.5530G= (p.Asp1844=)
c.5521G= (p.Asp1841=)
c.5536G= (p.Asp1846=)
Xg.32343214C>GCA412665995DMDc.505G>C (p.Asp169His)
c.5659G>C (p.Asp1887His)
c.1627G>C (p.Asp543His)
c.5647G>C (p.Asp1883His)
n.336-126151G>C
c.316G>C (p.Asp106His)
c.5635G>C (p.Asp1879His)
c.5290G>C (p.Asp1764His)
c.1636G>C (p.Asp546His)
c.5530G>C (p.Asp1844His)
c.5521G>C (p.Asp1841His)
c.5536G>C (p.Asp1846His)
Xg.32343214C>TCA412665998DMDc.505G>A (p.Asp169Asn)
c.5659G>A (p.Asp1887Asn)
c.1627G>A (p.Asp543Asn)
c.5647G>A (p.Asp1883Asn)
n.336-126151G>A
c.316G>A (p.Asp106Asn)
c.5635G>A (p.Asp1879Asn)
c.5290G>A (p.Asp1764Asn)
c.1636G>A (p.Asp546Asn)
c.5530G>A (p.Asp1844Asn)
c.5521G>A (p.Asp1841Asn)
c.5536G>A (p.Asp1846Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32343215A=CA2422760812DMDc.504T= (p.Ala168=)
c.5658T= (p.Ala1886=)
c.1626T= (p.Ala542=)
c.5646T= (p.Ala1882=)
n.336-126152T=
c.315T= (p.Ala105=)
c.5634T= (p.Ala1878=)
c.5289T= (p.Ala1763=)
c.1635T= (p.Ala545=)
c.5529T= (p.Ala1843=)
c.5520T= (p.Ala1840=)
c.5535T= (p.Ala1845=)
Xg.32343215A>CCA515713998DMDc.504T>G (p.Ala168=)
c.5658T>G (p.Ala1886=)
c.1626T>G (p.Ala542=)
c.5646T>G (p.Ala1882=)
n.336-126152T>G
c.315T>G (p.Ala105=)
c.5634T>G (p.Ala1878=)
c.5289T>G (p.Ala1763=)
c.1635T>G (p.Ala545=)
c.5529T>G (p.Ala1843=)
c.5520T>G (p.Ala1840=)
c.5535T>G (p.Ala1845=)
Xg.32343215A>GCA222437DMDc.504T>C (p.Ala168=)
c.5658T>C (p.Ala1886=)
c.1626T>C (p.Ala542=)
c.5646T>C (p.Ala1882=)
n.336-126152T>C
c.315T>C (p.Ala105=)
c.5634T>C (p.Ala1878=)
c.5289T>C (p.Ala1763=)
c.1635T>C (p.Ala545=)
c.5529T>C (p.Ala1843=)
c.5520T>C (p.Ala1840=)
c.5535T>C (p.Ala1845=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32343215A>TCA515713997DMDc.504T>A (p.Ala168=)
c.5658T>A (p.Ala1886=)
c.1626T>A (p.Ala542=)
c.5646T>A (p.Ala1882=)
n.336-126152T>A
c.315T>A (p.Ala105=)
c.5634T>A (p.Ala1878=)
c.5289T>A (p.Ala1763=)
c.1635T>A (p.Ala545=)
c.5529T>A (p.Ala1843=)
c.5520T>A (p.Ala1840=)
c.5535T>A (p.Ala1845=)
Xg.32343216G>ACA412666002DMDc.503C>T (p.Ala168Val)
c.5657C>T (p.Ala1886Val)
c.1625C>T (p.Ala542Val)
c.5645C>T (p.Ala1882Val)
n.336-126153C>T
c.314C>T (p.Ala105Val)
c.5633C>T (p.Ala1878Val)
c.5288C>T (p.Ala1763Val)
c.1634C>T (p.Ala545Val)
c.5528C>T (p.Ala1843Val)
c.5519C>T (p.Ala1840Val)
c.5534C>T (p.Ala1845Val)
Xg.32343216G>CCA412666003DMDc.503C>G (p.Ala168Gly)
c.5657C>G (p.Ala1886Gly)
c.1625C>G (p.Ala542Gly)
c.5645C>G (p.Ala1882Gly)
n.336-126153C>G
c.314C>G (p.Ala105Gly)
c.5633C>G (p.Ala1878Gly)
c.5288C>G (p.Ala1763Gly)
c.1634C>G (p.Ala545Gly)
c.5528C>G (p.Ala1843Gly)
c.5519C>G (p.Ala1840Gly)
c.5534C>G (p.Ala1845Gly)
Xg.32343216G>TCA412666004DMDc.503C>A (p.Ala168Asp)
c.5657C>A (p.Ala1886Asp)
c.1625C>A (p.Ala542Asp)
c.5645C>A (p.Ala1882Asp)
n.336-126153C>A
c.314C>A (p.Ala105Asp)
c.5633C>A (p.Ala1878Asp)
c.5288C>A (p.Ala1763Asp)
c.1634C>A (p.Ala545Asp)
c.5528C>A (p.Ala1843Asp)
c.5519C>A (p.Ala1840Asp)
c.5534C>A (p.Ala1845Asp)
Xg.32343217C>ACA412666010DMDc.502G>T (p.Ala168Ser)
c.5656G>T (p.Ala1886Ser)
c.1624G>T (p.Ala542Ser)
c.5644G>T (p.Ala1882Ser)
n.336-126154G>T
c.313G>T (p.Ala105Ser)
c.5632G>T (p.Ala1878Ser)
c.5287G>T (p.Ala1763Ser)
c.1633G>T (p.Ala545Ser)
c.5527G>T (p.Ala1843Ser)
c.5518G>T (p.Ala1840Ser)
c.5533G>T (p.Ala1845Ser)
Xg.32343217C>GCA412666005DMDc.502G>C (p.Ala168Pro)
c.5656G>C (p.Ala1886Pro)
c.1624G>C (p.Ala542Pro)
c.5644G>C (p.Ala1882Pro)
n.336-126154G>C
c.313G>C (p.Ala105Pro)
c.5632G>C (p.Ala1878Pro)
c.5287G>C (p.Ala1763Pro)
c.1633G>C (p.Ala545Pro)
c.5527G>C (p.Ala1843Pro)
c.5518G>C (p.Ala1840Pro)
c.5533G>C (p.Ala1845Pro)
Xg.32343217C>TCA412666007DMDc.502G>A (p.Ala168Thr)
c.5656G>A (p.Ala1886Thr)
c.1624G>A (p.Ala542Thr)
c.5644G>A (p.Ala1882Thr)
n.336-126154G>A
c.313G>A (p.Ala105Thr)
c.5632G>A (p.Ala1878Thr)
c.5287G>A (p.Ala1763Thr)
c.1633G>A (p.Ala545Thr)
c.5527G>A (p.Ala1843Thr)
c.5518G>A (p.Ala1840Thr)
c.5533G>A (p.Ala1845Thr)
Xg.32343218dupCA2573158787DMDc.502dup (p.Ala168GlyfsTer2)
c.5656dup (p.Ala1886GlyfsTer2)
c.1624dup (p.Ala542GlyfsTer2)
c.5644dup (p.Ala1882GlyfsTer2)
n.336-126154dup
c.313dup (p.Ala105GlyfsTer2)
c.5632dup (p.Ala1878GlyfsTer2)
c.5287dup (p.Ala1763GlyfsTer2)
c.1633dup (p.Ala545GlyfsTer2)
c.5527dup (p.Ala1843GlyfsTer2)
c.5518dup (p.Ala1840GlyfsTer2)
c.5533dup (p.Ala1845GlyfsTer2)
 ClinVar dbSNP
Xg.32343218C>ACA412666013DMDc.501G>T (p.Gln167His)
c.5655G>T (p.Gln1885His)
c.1623G>T (p.Gln541His)
c.5643G>T (p.Gln1881His)
n.336-126155G>T
c.312G>T (p.Gln104His)
c.5631G>T (p.Gln1877His)
c.5286G>T (p.Gln1762His)
c.1632G>T (p.Gln544His)
c.5526G>T (p.Gln1842His)
c.5517G>T (p.Gln1839His)
c.5532G>T (p.Gln1844His)
Xg.32343218C=CA2422760813DMDc.501G= (p.Gln167=)
c.5655G= (p.Gln1885=)
c.1623G= (p.Gln541=)
c.5643G= (p.Gln1881=)
n.336-126155G=
c.312G= (p.Gln104=)
c.5631G= (p.Gln1877=)
c.5286G= (p.Gln1762=)
c.1632G= (p.Gln544=)
c.5526G= (p.Gln1842=)
c.5517G= (p.Gln1839=)
c.5532G= (p.Gln1844=)
Xg.32343218C>GCA412666015DMDc.501G>C (p.Gln167His)
c.5655G>C (p.Gln1885His)
c.1623G>C (p.Gln541His)
c.5643G>C (p.Gln1881His)
n.336-126155G>C
c.312G>C (p.Gln104His)
c.5631G>C (p.Gln1877His)
c.5286G>C (p.Gln1762His)
c.1632G>C (p.Gln544His)
c.5526G>C (p.Gln1842His)
c.5517G>C (p.Gln1839His)
c.5532G>C (p.Gln1844His)
 ClinVar dbSNP gnomAD v4
Xg.32343218C>TCA515714008DMDc.501G>A (p.Gln167=)
c.5655G>A (p.Gln1885=)
c.1623G>A (p.Gln541=)
c.5643G>A (p.Gln1881=)
n.336-126155G>A
c.312G>A (p.Gln104=)
c.5631G>A (p.Gln1877=)
c.5286G>A (p.Gln1762=)
c.1632G>A (p.Gln544=)
c.5526G>A (p.Gln1842=)
c.5517G>A (p.Gln1839=)
c.5532G>A (p.Gln1844=)
 ClinVar dbSNP
Xg.32343219delCA2695232742DMDc.500del (p.Gln167ArgfsTer6)
c.5654del (p.Gln1885ArgfsTer6)
c.1622del (p.Gln541ArgfsTer6)
c.5642del (p.Gln1881ArgfsTer6)
n.336-126156del
c.311del (p.Gln104ArgfsTer6)
c.5630del (p.Gln1877ArgfsTer6)
c.5285del (p.Gln1762ArgfsTer6)
c.1631del (p.Gln544ArgfsTer6)
c.5525del (p.Gln1842ArgfsTer6)
c.5516del (p.Gln1839ArgfsTer6)
c.5531del (p.Gln1844ArgfsTer6)
Xg.32343219T>ACA10606774DMDc.500A>T (p.Gln167Leu)
c.5654A>T (p.Gln1885Leu)
c.1622A>T (p.Gln541Leu)
c.5642A>T (p.Gln1881Leu)
n.336-126156A>T
c.311A>T (p.Gln104Leu)
c.5630A>T (p.Gln1877Leu)
c.5285A>T (p.Gln1762Leu)
c.1631A>T (p.Gln544Leu)
c.5525A>T (p.Gln1842Leu)
c.5516A>T (p.Gln1839Leu)
c.5531A>T (p.Gln1844Leu)
 ClinVar dbSNP
Xg.32343219T>CCA412666019DMDc.500A>G (p.Gln167Arg)
c.5654A>G (p.Gln1885Arg)
c.1622A>G (p.Gln541Arg)
c.5642A>G (p.Gln1881Arg)
n.336-126156A>G
c.311A>G (p.Gln104Arg)
c.5630A>G (p.Gln1877Arg)
c.5285A>G (p.Gln1762Arg)
c.1631A>G (p.Gln544Arg)
c.5525A>G (p.Gln1842Arg)
c.5516A>G (p.Gln1839Arg)
c.5531A>G (p.Gln1844Arg)
Xg.32343219T>GCA412666021DMDc.500A>C (p.Gln167Pro)
c.5654A>C (p.Gln1885Pro)
c.1622A>C (p.Gln541Pro)
c.5642A>C (p.Gln1881Pro)
n.336-126156A>C
c.311A>C (p.Gln104Pro)
c.5630A>C (p.Gln1877Pro)
c.5285A>C (p.Gln1762Pro)
c.1631A>C (p.Gln544Pro)
c.5525A>C (p.Gln1842Pro)
c.5516A>C (p.Gln1839Pro)
c.5531A>C (p.Gln1844Pro)
Xg.32343219T=CA2422760814DMDc.500A= (p.Gln167=)
c.5654A= (p.Gln1885=)
c.1622A= (p.Gln541=)
c.5642A= (p.Gln1881=)
n.336-126156A=
c.311A= (p.Gln104=)
c.5630A= (p.Gln1877=)
c.5285A= (p.Gln1762=)
c.1631A= (p.Gln544=)
c.5525A= (p.Gln1842=)
c.5516A= (p.Gln1839=)
c.5531A= (p.Gln1844=)
Xg.32343220G>ACA412666024DMDc.499C>T (p.Gln167Ter)
c.5653C>T (p.Gln1885Ter)
c.1621C>T (p.Gln541Ter)
c.5641C>T (p.Gln1881Ter)
n.336-126157C>T
c.310C>T (p.Gln104Ter)
c.5629C>T (p.Gln1877Ter)
c.5284C>T (p.Gln1762Ter)
c.1630C>T (p.Gln544Ter)
c.5524C>T (p.Gln1842Ter)
c.5515C>T (p.Gln1839Ter)
c.5530C>T (p.Gln1844Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32343220G>CCA412666026DMDc.499C>G (p.Gln167Glu)
c.5653C>G (p.Gln1885Glu)
c.1621C>G (p.Gln541Glu)
c.5641C>G (p.Gln1881Glu)
n.336-126157C>G
c.310C>G (p.Gln104Glu)
c.5629C>G (p.Gln1877Glu)
c.5284C>G (p.Gln1762Glu)
c.1630C>G (p.Gln544Glu)
c.5524C>G (p.Gln1842Glu)
c.5515C>G (p.Gln1839Glu)
c.5530C>G (p.Gln1844Glu)
 dbSNP gnomAD v2 gnomAD v4
Xg.32343220G=CA2422760816DMDc.499C= (p.Gln167=)
c.5653C= (p.Gln1885=)
c.1621C= (p.Gln541=)
c.5641C= (p.Gln1881=)
n.336-126157C=
c.310C= (p.Gln104=)
c.5629C= (p.Gln1877=)
c.5284C= (p.Gln1762=)
c.1630C= (p.Gln544=)
c.5524C= (p.Gln1842=)
c.5515C= (p.Gln1839=)
c.5530C= (p.Gln1844=)
Xg.32343220G>TCA412666028DMDc.499C>A (p.Gln167Lys)
c.5653C>A (p.Gln1885Lys)
c.1621C>A (p.Gln541Lys)
c.5641C>A (p.Gln1881Lys)
n.336-126157C>A
c.310C>A (p.Gln104Lys)
c.5629C>A (p.Gln1877Lys)
c.5284C>A (p.Gln1762Lys)
c.1630C>A (p.Gln544Lys)
c.5524C>A (p.Gln1842Lys)
c.5515C>A (p.Gln1839Lys)
c.5530C>A (p.Gln1844Lys)
 ClinVar dbSNP gnomAD v4
Xg.32343220_32343221delinsGCCA2422760815DMDc.498_499delinsGC (p.Arg166=)
c.5652_5653delinsGC (p.Arg1884=)
c.1620_1621delinsGC (p.Arg540=)
c.5640_5641delinsGC (p.Arg1880=)
n.336-126158_336-126157delinsGC
c.309_310delinsGC (p.Arg103=)
c.5628_5629delinsGC (p.Arg1876=)
c.5283_5284delinsGC (p.Arg1761=)
c.1629_1630delinsGC (p.Arg543=)
c.5523_5524delinsGC (p.Arg1841=)
c.5514_5515delinsGC (p.Arg1838=)
c.5529_5530delinsGC (p.Arg1843=)
Xg.32343221C>ACA412666031DMDc.498G>T (p.Arg166Ser)
c.5652G>T (p.Arg1884Ser)
c.1620G>T (p.Arg540Ser)
c.5640G>T (p.Arg1880Ser)
n.336-126158G>T
c.309G>T (p.Arg103Ser)
c.5628G>T (p.Arg1876Ser)
c.5283G>T (p.Arg1761Ser)
c.1629G>T (p.Arg543Ser)
c.5523G>T (p.Arg1841Ser)
c.5514G>T (p.Arg1838Ser)
c.5529G>T (p.Arg1843Ser)
Xg.32343221C>GCA412666034DMDc.498G>C (p.Arg166Ser)
c.5652G>C (p.Arg1884Ser)
c.1620G>C (p.Arg540Ser)
c.5640G>C (p.Arg1880Ser)
n.336-126158G>C
c.309G>C (p.Arg103Ser)
c.5628G>C (p.Arg1876Ser)
c.5283G>C (p.Arg1761Ser)
c.1629G>C (p.Arg543Ser)
c.5523G>C (p.Arg1841Ser)
c.5514G>C (p.Arg1838Ser)
c.5529G>C (p.Arg1843Ser)
Xg.32343221C>TCA515714019DMDc.498G>A (p.Arg166=)
c.5652G>A (p.Arg1884=)
c.1620G>A (p.Arg540=)
c.5640G>A (p.Arg1880=)
n.336-126158G>A
c.309G>A (p.Arg103=)
c.5628G>A (p.Arg1876=)
c.5283G>A (p.Arg1761=)
c.1629G>A (p.Arg543=)
c.5523G>A (p.Arg1841=)
c.5514G>A (p.Arg1838=)
c.5529G>A (p.Arg1843=)
Xg.32343222delCA16043707DMDc.498del (p.Arg166SerfsTer7)
c.5652del (p.Arg1884SerfsTer7)
c.1620del (p.Arg540SerfsTer7)
c.5640del (p.Arg1880SerfsTer7)
n.336-126158del
c.309del (p.Arg103SerfsTer7)
c.5628del (p.Arg1876SerfsTer7)
c.5283del (p.Arg1761SerfsTer7)
c.1629del (p.Arg543SerfsTer7)
c.5523del (p.Arg1841SerfsTer7)
c.5514del (p.Arg1838SerfsTer7)
c.5529del (p.Arg1843SerfsTer7)
 ClinVar dbSNP
Xg.32343222C>ACA412666045DMDc.497G>T (p.Arg166Met)
c.5651G>T (p.Arg1884Met)
c.1619G>T (p.Arg540Met)
c.5639G>T (p.Arg1880Met)
n.336-126159G>T
c.308G>T (p.Arg103Met)
c.5627G>T (p.Arg1876Met)
c.5282G>T (p.Arg1761Met)
c.1628G>T (p.Arg543Met)
c.5522G>T (p.Arg1841Met)
c.5513G>T (p.Arg1838Met)
c.5528G>T (p.Arg1843Met)
Xg.32343222C>GCA412666042DMDc.497G>C (p.Arg166Thr)
c.5651G>C (p.Arg1884Thr)
c.1619G>C (p.Arg540Thr)
c.5639G>C (p.Arg1880Thr)
n.336-126159G>C
c.308G>C (p.Arg103Thr)
c.5627G>C (p.Arg1876Thr)
c.5282G>C (p.Arg1761Thr)
c.1628G>C (p.Arg543Thr)
c.5522G>C (p.Arg1841Thr)
c.5513G>C (p.Arg1838Thr)
c.5528G>C (p.Arg1843Thr)
Xg.32343222C>TCA412666040DMDc.497G>A (p.Arg166Lys)
c.5651G>A (p.Arg1884Lys)
c.1619G>A (p.Arg540Lys)
c.5639G>A (p.Arg1880Lys)
n.336-126159G>A
c.308G>A (p.Arg103Lys)
c.5627G>A (p.Arg1876Lys)
c.5282G>A (p.Arg1761Lys)
c.1628G>A (p.Arg543Lys)
c.5522G>A (p.Arg1841Lys)
c.5513G>A (p.Arg1838Lys)
c.5528G>A (p.Arg1843Lys)
 gnomAD v4
Xg.32343223T>ACA412666048DMDc.496A>T (p.Arg166Trp)
c.5650A>T (p.Arg1884Trp)
c.1618A>T (p.Arg540Trp)
c.5638A>T (p.Arg1880Trp)
n.336-126160A>T
c.307A>T (p.Arg103Trp)
c.5626A>T (p.Arg1876Trp)
c.5281A>T (p.Arg1761Trp)
c.1627A>T (p.Arg543Trp)
c.5521A>T (p.Arg1841Trp)
c.5512A>T (p.Arg1838Trp)
c.5527A>T (p.Arg1843Trp)
Xg.32343223T>CCA412666051DMDc.496A>G (p.Arg166Gly)
c.5650A>G (p.Arg1884Gly)
c.1618A>G (p.Arg540Gly)
c.5638A>G (p.Arg1880Gly)
n.336-126160A>G
c.307A>G (p.Arg103Gly)
c.5626A>G (p.Arg1876Gly)
c.5281A>G (p.Arg1761Gly)
c.1627A>G (p.Arg543Gly)
c.5521A>G (p.Arg1841Gly)
c.5512A>G (p.Arg1838Gly)
c.5527A>G (p.Arg1843Gly)
 ClinVar dbSNP gnomAD v4
Xg.32343223T>GCA515714026DMDc.496A>C (p.Arg166=)
c.5650A>C (p.Arg1884=)
c.1618A>C (p.Arg540=)
c.5638A>C (p.Arg1880=)
n.336-126160A>C
c.307A>C (p.Arg103=)
c.5626A>C (p.Arg1876=)
c.5281A>C (p.Arg1761=)
c.1627A>C (p.Arg543=)
c.5521A>C (p.Arg1841=)
c.5512A>C (p.Arg1838=)
c.5527A>C (p.Arg1843=)
Xg.32343223T=CA2422760817DMDc.496A= (p.Arg166=)
c.5650A= (p.Arg1884=)
c.1618A= (p.Arg540=)
c.5638A= (p.Arg1880=)
n.336-126160A=
c.307A= (p.Arg103=)
c.5626A= (p.Arg1876=)
c.5281A= (p.Arg1761=)
c.1627A= (p.Arg543=)
c.5521A= (p.Arg1841=)
c.5512A= (p.Arg1838=)
c.5527A= (p.Arg1843=)
Xg.32343224delCA2573158789DMDc.495del (p.Arg166GlyfsTer7)
c.5649del (p.Arg1884GlyfsTer7)
c.1617del (p.Arg540GlyfsTer7)
c.5637del (p.Arg1880GlyfsTer7)
n.336-126161del
c.306del (p.Arg103GlyfsTer7)
c.5625del (p.Arg1876GlyfsTer7)
c.5280del (p.Arg1761GlyfsTer7)
c.1626del (p.Arg543GlyfsTer7)
c.5520del (p.Arg1841GlyfsTer7)
c.5511del (p.Arg1838GlyfsTer7)
c.5526del (p.Arg1843GlyfsTer7)
 ClinVar dbSNP
Xg.32343224C>ACA412666056DMDc.495G>T (p.Lys165Asn)
c.5649G>T (p.Lys1883Asn)
c.1617G>T (p.Lys539Asn)
c.5637G>T (p.Lys1879Asn)
n.336-126161G>T
c.306G>T (p.Lys102Asn)
c.5625G>T (p.Lys1875Asn)
c.5280G>T (p.Lys1760Asn)
c.1626G>T (p.Lys542Asn)
c.5520G>T (p.Lys1840Asn)
c.5511G>T (p.Lys1837Asn)
c.5526G>T (p.Lys1842Asn)
Xg.32343224C>GCA412666059DMDc.495G>C (p.Lys165Asn)
c.5649G>C (p.Lys1883Asn)
c.1617G>C (p.Lys539Asn)
c.5637G>C (p.Lys1879Asn)
n.336-126161G>C
c.306G>C (p.Lys102Asn)
c.5625G>C (p.Lys1875Asn)
c.5280G>C (p.Lys1760Asn)
c.1626G>C (p.Lys542Asn)
c.5520G>C (p.Lys1840Asn)
c.5511G>C (p.Lys1837Asn)
c.5526G>C (p.Lys1842Asn)
Xg.32343224C>TCA515714030DMDc.495G>A (p.Lys165=)
c.5649G>A (p.Lys1883=)
c.1617G>A (p.Lys539=)
c.5637G>A (p.Lys1879=)
n.336-126161G>A
c.306G>A (p.Lys102=)
c.5625G>A (p.Lys1875=)
c.5280G>A (p.Lys1760=)
c.1626G>A (p.Lys542=)
c.5520G>A (p.Lys1840=)
c.5511G>A (p.Lys1837=)
c.5526G>A (p.Lys1842=)
Xg.32343225T>ACA412666062DMDc.494A>T (p.Lys165Met)
c.5648A>T (p.Lys1883Met)
c.1616A>T (p.Lys539Met)
c.5636A>T (p.Lys1879Met)
n.336-126162A>T
c.305A>T (p.Lys102Met)
c.5624A>T (p.Lys1875Met)
c.5279A>T (p.Lys1760Met)
c.1625A>T (p.Lys542Met)
c.5519A>T (p.Lys1840Met)
c.5510A>T (p.Lys1837Met)
c.5525A>T (p.Lys1842Met)
Xg.32343225T>CCA412666065DMDc.494A>G (p.Lys165Arg)
c.5648A>G (p.Lys1883Arg)
c.1616A>G (p.Lys539Arg)
c.5636A>G (p.Lys1879Arg)
n.336-126162A>G
c.305A>G (p.Lys102Arg)
c.5624A>G (p.Lys1875Arg)
c.5279A>G (p.Lys1760Arg)
c.1625A>G (p.Lys542Arg)
c.5519A>G (p.Lys1840Arg)
c.5510A>G (p.Lys1837Arg)
c.5525A>G (p.Lys1842Arg)
 ClinVar
Xg.32343225T>GCA412666068DMDc.494A>C (p.Lys165Thr)
c.5648A>C (p.Lys1883Thr)
c.1616A>C (p.Lys539Thr)
c.5636A>C (p.Lys1879Thr)
n.336-126162A>C
c.305A>C (p.Lys102Thr)
c.5624A>C (p.Lys1875Thr)
c.5279A>C (p.Lys1760Thr)
c.1625A>C (p.Lys542Thr)
c.5519A>C (p.Lys1840Thr)
c.5510A>C (p.Lys1837Thr)
c.5525A>C (p.Lys1842Thr)
Xg.32343226T>ACA16616669DMDc.493A>T (p.Lys165Ter)
c.5647A>T (p.Lys1883Ter)
c.1615A>T (p.Lys539Ter)
c.5635A>T (p.Lys1879Ter)
n.336-126163A>T
c.304A>T (p.Lys102Ter)
c.5623A>T (p.Lys1875Ter)
c.5278A>T (p.Lys1760Ter)
c.1624A>T (p.Lys542Ter)
c.5518A>T (p.Lys1840Ter)
c.5509A>T (p.Lys1837Ter)
c.5524A>T (p.Lys1842Ter)
 ClinVar dbSNP
Xg.32343226T>CCA412666073DMDc.493A>G (p.Lys165Glu)
c.5647A>G (p.Lys1883Glu)
c.1615A>G (p.Lys539Glu)
c.5635A>G (p.Lys1879Glu)
n.336-126163A>G
c.304A>G (p.Lys102Glu)
c.5623A>G (p.Lys1875Glu)
c.5278A>G (p.Lys1760Glu)
c.1624A>G (p.Lys542Glu)
c.5518A>G (p.Lys1840Glu)
c.5509A>G (p.Lys1837Glu)
c.5524A>G (p.Lys1842Glu)
 gnomAD v4
Xg.32343226T>GCA412666076DMDc.493A>C (p.Lys165Gln)
c.5647A>C (p.Lys1883Gln)
c.1615A>C (p.Lys539Gln)
c.5635A>C (p.Lys1879Gln)
n.336-126163A>C
c.304A>C (p.Lys102Gln)
c.5623A>C (p.Lys1875Gln)
c.5278A>C (p.Lys1760Gln)
c.1624A>C (p.Lys542Gln)
c.5518A>C (p.Lys1840Gln)
c.5509A>C (p.Lys1837Gln)
c.5524A>C (p.Lys1842Gln)
Xg.32343226T=CA2422760818DMDc.493A= (p.Lys165=)
c.5647A= (p.Lys1883=)
c.1615A= (p.Lys539=)
c.5635A= (p.Lys1879=)
n.336-126163A=
c.304A= (p.Lys102=)
c.5623A= (p.Lys1875=)
c.5278A= (p.Lys1760=)
c.1624A= (p.Lys542=)
c.5518A= (p.Lys1840=)
c.5509A= (p.Lys1837=)
c.5524A= (p.Lys1842=)
Xg.32343227G>ACA515714038DMDc.492C>T (p.Tyr164=)
c.5646C>T (p.Tyr1882=)
c.1614C>T (p.Tyr538=)
c.5634C>T (p.Tyr1878=)
n.336-126164C>T
c.303C>T (p.Tyr101=)
c.5622C>T (p.Tyr1874=)
c.5277C>T (p.Tyr1759=)
c.1623C>T (p.Tyr541=)
c.5517C>T (p.Tyr1839=)
c.5508C>T (p.Tyr1836=)
c.5523C>T (p.Tyr1841=)
 ClinVar dbSNP gnomAD v4
Xg.32343227G>CCA412666081DMDc.492C>G (p.Tyr164Ter)
c.5646C>G (p.Tyr1882Ter)
c.1614C>G (p.Tyr538Ter)
c.5634C>G (p.Tyr1878Ter)
n.336-126164C>G
c.303C>G (p.Tyr101Ter)
c.5622C>G (p.Tyr1874Ter)
c.5277C>G (p.Tyr1759Ter)
c.1623C>G (p.Tyr541Ter)
c.5517C>G (p.Tyr1839Ter)
c.5508C>G (p.Tyr1836Ter)
c.5523C>G (p.Tyr1841Ter)
 dbSNP
Xg.32343227G=CA2422760819DMDc.492C= (p.Tyr164=)
c.5646C= (p.Tyr1882=)
c.1614C= (p.Tyr538=)
c.5634C= (p.Tyr1878=)
n.336-126164C=
c.303C= (p.Tyr101=)
c.5622C= (p.Tyr1874=)
c.5277C= (p.Tyr1759=)
c.1623C= (p.Tyr541=)
c.5517C= (p.Tyr1839=)
c.5508C= (p.Tyr1836=)
c.5523C= (p.Tyr1841=)
Xg.32343227G>TCA412666083DMDc.492C>A (p.Tyr164Ter)
c.5646C>A (p.Tyr1882Ter)
c.1614C>A (p.Tyr538Ter)
c.5634C>A (p.Tyr1878Ter)
n.336-126164C>A
c.303C>A (p.Tyr101Ter)
c.5622C>A (p.Tyr1874Ter)
c.5277C>A (p.Tyr1759Ter)
c.1623C>A (p.Tyr541Ter)
c.5517C>A (p.Tyr1839Ter)
c.5508C>A (p.Tyr1836Ter)
c.5523C>A (p.Tyr1841Ter)
 ClinVar dbSNP

Number of alleles fetched