Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.32287596G>ACA10605510DMDc.1069C>T (p.Gln357Ter)
c.6223C>T (p.Gln2075Ter)
c.2191C>T (p.Gln731Ter)
c.6211C>T (p.Gln2071Ter)
n.336-70533C>T
c.6199C>T (p.Gln2067Ter)
c.5854C>T (p.Gln1952Ter)
c.2200C>T (p.Gln734Ter)
c.6094C>T (p.Gln2032Ter)
c.6085C>T (p.Gln2029Ter)
c.6100C>T (p.Gln2034Ter)
c.397C>T (p.Gln133Ter)
 ClinVar dbSNP
Xg.32287596G>CCA412665945DMDc.1069C>G (p.Gln357Glu)
c.6223C>G (p.Gln2075Glu)
c.2191C>G (p.Gln731Glu)
c.6211C>G (p.Gln2071Glu)
n.336-70533C>G
c.6199C>G (p.Gln2067Glu)
c.5854C>G (p.Gln1952Glu)
c.2200C>G (p.Gln734Glu)
c.6094C>G (p.Gln2032Glu)
c.6085C>G (p.Gln2029Glu)
c.6100C>G (p.Gln2034Glu)
c.397C>G (p.Gln133Glu)
Xg.32287596G=CA2422736425DMDc.1069C= (p.Gln357=)
c.6223C= (p.Gln2075=)
c.2191C= (p.Gln731=)
c.6211C= (p.Gln2071=)
n.336-70533C=
c.6199C= (p.Gln2067=)
c.5854C= (p.Gln1952=)
c.2200C= (p.Gln734=)
c.6094C= (p.Gln2032=)
c.6085C= (p.Gln2029=)
c.6100C= (p.Gln2034=)
c.397C= (p.Gln133=)
Xg.32287596G>TCA412665948DMDc.1069C>A (p.Gln357Lys)
c.6223C>A (p.Gln2075Lys)
c.2191C>A (p.Gln731Lys)
c.6211C>A (p.Gln2071Lys)
n.336-70533C>A
c.6199C>A (p.Gln2067Lys)
c.5854C>A (p.Gln1952Lys)
c.2200C>A (p.Gln734Lys)
c.6094C>A (p.Gln2032Lys)
c.6085C>A (p.Gln2029Lys)
c.6100C>A (p.Gln2034Lys)
c.397C>A (p.Gln133Lys)
Xg.32287597delCA2579579364DMDc.1068del (p.Gln357ArgfsTer?)
c.6222del (p.Gln2075ArgfsTer?)
c.2190del (p.Gln731ArgfsTer?)
c.6210del (p.Gln2071ArgfsTer?)
n.336-70534del
c.6198del (p.Gln2067ArgfsTer?)
c.5853del (p.Gln1952ArgfsTer?)
c.2199del (p.Gln734ArgfsTer?)
c.6093del (p.Gln2032ArgfsTer?)
c.6084del (p.Gln2029ArgfsTer?)
c.6099del (p.Gln2034ArgfsTer?)
c.396del (p.Gln133ArgfsTer?)
Xg.32287597T>ACA515860675DMDc.1068A>T (p.Leu356=)
c.6222A>T (p.Leu2074=)
c.2190A>T (p.Leu730=)
c.6210A>T (p.Leu2070=)
n.336-70534A>T
c.6198A>T (p.Leu2066=)
c.5853A>T (p.Leu1951=)
c.2199A>T (p.Leu733=)
c.6093A>T (p.Leu2031=)
c.6084A>T (p.Leu2028=)
c.6099A>T (p.Leu2033=)
c.396A>T (p.Leu132=)
Xg.32287597T>CCA515860679DMDc.1068A>G (p.Leu356=)
c.6222A>G (p.Leu2074=)
c.2190A>G (p.Leu730=)
c.6210A>G (p.Leu2070=)
n.336-70534A>G
c.6198A>G (p.Leu2066=)
c.5853A>G (p.Leu1951=)
c.2199A>G (p.Leu733=)
c.6093A>G (p.Leu2031=)
c.6084A>G (p.Leu2028=)
c.6099A>G (p.Leu2033=)
c.396A>G (p.Leu132=)
 ClinVar dbSNP
Xg.32287597T>GCA515860677DMDc.1068A>C (p.Leu356=)
c.6222A>C (p.Leu2074=)
c.2190A>C (p.Leu730=)
c.6210A>C (p.Leu2070=)
n.336-70534A>C
c.6198A>C (p.Leu2066=)
c.5853A>C (p.Leu1951=)
c.2199A>C (p.Leu733=)
c.6093A>C (p.Leu2031=)
c.6084A>C (p.Leu2028=)
c.6099A>C (p.Leu2033=)
c.396A>C (p.Leu132=)
Xg.32287598A>CCA412665955DMDc.1067T>G (p.Leu356Arg)
c.6221T>G (p.Leu2074Arg)
c.2189T>G (p.Leu730Arg)
c.6209T>G (p.Leu2070Arg)
n.336-70535T>G
c.6197T>G (p.Leu2066Arg)
c.5852T>G (p.Leu1951Arg)
c.2198T>G (p.Leu733Arg)
c.6092T>G (p.Leu2031Arg)
c.6083T>G (p.Leu2028Arg)
c.6098T>G (p.Leu2033Arg)
c.395T>G (p.Leu132Arg)
Xg.32287598A>GCA412665958DMDc.1067T>C (p.Leu356Pro)
c.6221T>C (p.Leu2074Pro)
c.2189T>C (p.Leu730Pro)
c.6209T>C (p.Leu2070Pro)
n.336-70535T>C
c.6197T>C (p.Leu2066Pro)
c.5852T>C (p.Leu1951Pro)
c.2198T>C (p.Leu733Pro)
c.6092T>C (p.Leu2031Pro)
c.6083T>C (p.Leu2028Pro)
c.6098T>C (p.Leu2033Pro)
c.395T>C (p.Leu132Pro)
Xg.32287598A>TCA412665961DMDc.1067T>A (p.Leu356Gln)
c.6221T>A (p.Leu2074Gln)
c.2189T>A (p.Leu730Gln)
c.6209T>A (p.Leu2070Gln)
n.336-70535T>A
c.6197T>A (p.Leu2066Gln)
c.5852T>A (p.Leu1951Gln)
c.2198T>A (p.Leu733Gln)
c.6092T>A (p.Leu2031Gln)
c.6083T>A (p.Leu2028Gln)
c.6098T>A (p.Leu2033Gln)
c.395T>A (p.Leu132Gln)
Xg.32287599G>ACA515860683DMDc.1066C>T (p.Leu356=)
c.6220C>T (p.Leu2074=)
c.2188C>T (p.Leu730=)
c.6208C>T (p.Leu2070=)
n.336-70536C>T
c.6196C>T (p.Leu2066=)
c.5851C>T (p.Leu1951=)
c.2197C>T (p.Leu733=)
c.6091C>T (p.Leu2031=)
c.6082C>T (p.Leu2028=)
c.6097C>T (p.Leu2033=)
c.394C>T (p.Leu132=)
Xg.32287599G>CCA412665962DMDc.1066C>G (p.Leu356Val)
c.6220C>G (p.Leu2074Val)
c.2188C>G (p.Leu730Val)
c.6208C>G (p.Leu2070Val)
n.336-70536C>G
c.6196C>G (p.Leu2066Val)
c.5851C>G (p.Leu1951Val)
c.2197C>G (p.Leu733Val)
c.6091C>G (p.Leu2031Val)
c.6082C>G (p.Leu2028Val)
c.6097C>G (p.Leu2033Val)
c.394C>G (p.Leu132Val)
Xg.32287599G>TCA412665966DMDc.1066C>A (p.Leu356Ile)
c.6220C>A (p.Leu2074Ile)
c.2188C>A (p.Leu730Ile)
c.6208C>A (p.Leu2070Ile)
n.336-70536C>A
c.6196C>A (p.Leu2066Ile)
c.5851C>A (p.Leu1951Ile)
c.2197C>A (p.Leu733Ile)
c.6091C>A (p.Leu2031Ile)
c.6082C>A (p.Leu2028Ile)
c.6097C>A (p.Leu2033Ile)
c.394C>A (p.Leu132Ile)
 ClinVar
Xg.32287600C>ACA412665968DMDc.1065G>T (p.Lys355Asn)
c.6219G>T (p.Lys2073Asn)
c.2187G>T (p.Lys729Asn)
c.6207G>T (p.Lys2069Asn)
n.336-70537G>T
c.6195G>T (p.Lys2065Asn)
c.5850G>T (p.Lys1950Asn)
c.2196G>T (p.Lys732Asn)
c.6090G>T (p.Lys2030Asn)
c.6081G>T (p.Lys2027Asn)
c.6096G>T (p.Lys2032Asn)
c.393G>T (p.Lys131Asn)
Xg.32287600C>GCA412665972DMDc.1065G>C (p.Lys355Asn)
c.6219G>C (p.Lys2073Asn)
c.2187G>C (p.Lys729Asn)
c.6207G>C (p.Lys2069Asn)
n.336-70537G>C
c.6195G>C (p.Lys2065Asn)
c.5850G>C (p.Lys1950Asn)
c.2196G>C (p.Lys732Asn)
c.6090G>C (p.Lys2030Asn)
c.6081G>C (p.Lys2027Asn)
c.6096G>C (p.Lys2032Asn)
c.393G>C (p.Lys131Asn)
Xg.32287600C>TCA515860686DMDc.1065G>A (p.Lys355=)
c.6219G>A (p.Lys2073=)
c.2187G>A (p.Lys729=)
c.6207G>A (p.Lys2069=)
n.336-70537G>A
c.6195G>A (p.Lys2065=)
c.5850G>A (p.Lys1950=)
c.2196G>A (p.Lys732=)
c.6090G>A (p.Lys2030=)
c.6081G>A (p.Lys2027=)
c.6096G>A (p.Lys2032=)
c.393G>A (p.Lys131=)
Xg.32287603_32287609delCA2573158660DMDc.1059_1065del (p.Arg353SerfsTer?)
c.6213_6219del (p.Arg2071SerfsTer?)
c.2181_2187del (p.Arg727SerfsTer?)
c.6201_6207del (p.Arg2067SerfsTer?)
n.336-70543_336-70537del
c.6189_6195del (p.Arg2063SerfsTer?)
c.5844_5850del (p.Arg1948SerfsTer?)
c.2190_2196del (p.Arg730SerfsTer?)
c.6084_6090del (p.Arg2028SerfsTer?)
c.6075_6081del (p.Arg2025SerfsTer?)
c.6090_6096del (p.Arg2030SerfsTer?)
c.387_393del (p.Arg129SerfsTer?)
 ClinVar dbSNP
Xg.32287601T>ACA412665975DMDc.1064A>T (p.Lys355Met)
c.6218A>T (p.Lys2073Met)
c.2186A>T (p.Lys729Met)
c.6206A>T (p.Lys2069Met)
n.336-70538A>T
c.6194A>T (p.Lys2065Met)
c.5849A>T (p.Lys1950Met)
c.2195A>T (p.Lys732Met)
c.6089A>T (p.Lys2030Met)
c.6080A>T (p.Lys2027Met)
c.6095A>T (p.Lys2032Met)
c.392A>T (p.Lys131Met)
Xg.32287601T>CCA412665983DMDc.1064A>G (p.Lys355Arg)
c.6218A>G (p.Lys2073Arg)
c.2186A>G (p.Lys729Arg)
c.6206A>G (p.Lys2069Arg)
n.336-70538A>G
c.6194A>G (p.Lys2065Arg)
c.5849A>G (p.Lys1950Arg)
c.2195A>G (p.Lys732Arg)
c.6089A>G (p.Lys2030Arg)
c.6080A>G (p.Lys2027Arg)
c.6095A>G (p.Lys2032Arg)
c.392A>G (p.Lys131Arg)
Xg.32287601T>GCA412665978DMDc.1064A>C (p.Lys355Thr)
c.6218A>C (p.Lys2073Thr)
c.2186A>C (p.Lys729Thr)
c.6206A>C (p.Lys2069Thr)
n.336-70538A>C
c.6194A>C (p.Lys2065Thr)
c.5849A>C (p.Lys1950Thr)
c.2195A>C (p.Lys732Thr)
c.6089A>C (p.Lys2030Thr)
c.6080A>C (p.Lys2027Thr)
c.6095A>C (p.Lys2032Thr)
c.392A>C (p.Lys131Thr)
Xg.32287602T>ACA412665986DMDc.1063A>T (p.Lys355Ter)
c.6217A>T (p.Lys2073Ter)
c.2185A>T (p.Lys729Ter)
c.6205A>T (p.Lys2069Ter)
n.336-70539A>T
c.6193A>T (p.Lys2065Ter)
c.5848A>T (p.Lys1950Ter)
c.2194A>T (p.Lys732Ter)
c.6088A>T (p.Lys2030Ter)
c.6079A>T (p.Lys2027Ter)
c.6094A>T (p.Lys2032Ter)
c.391A>T (p.Lys131Ter)
 ClinVar dbSNP
Xg.32287602T>CCA10378510DMDc.1063A>G (p.Lys355Glu)
c.6217A>G (p.Lys2073Glu)
c.2185A>G (p.Lys729Glu)
c.6205A>G (p.Lys2069Glu)
n.336-70539A>G
c.6193A>G (p.Lys2065Glu)
c.5848A>G (p.Lys1950Glu)
c.2194A>G (p.Lys732Glu)
c.6088A>G (p.Lys2030Glu)
c.6079A>G (p.Lys2027Glu)
c.6094A>G (p.Lys2032Glu)
c.391A>G (p.Lys131Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32287602T>GCA412665987DMDc.1063A>C (p.Lys355Gln)
c.6217A>C (p.Lys2073Gln)
c.2185A>C (p.Lys729Gln)
c.6205A>C (p.Lys2069Gln)
n.336-70539A>C
c.6193A>C (p.Lys2065Gln)
c.5848A>C (p.Lys1950Gln)
c.2194A>C (p.Lys732Gln)
c.6088A>C (p.Lys2030Gln)
c.6079A>C (p.Lys2027Gln)
c.6094A>C (p.Lys2032Gln)
c.391A>C (p.Lys131Gln)
Xg.32287602T=CA2422736426DMDc.1063A= (p.Lys355=)
c.6217A= (p.Lys2073=)
c.2185A= (p.Lys729=)
c.6205A= (p.Lys2069=)
n.336-70539A=
c.6193A= (p.Lys2065=)
c.5848A= (p.Lys1950=)
c.2194A= (p.Lys732=)
c.6088A= (p.Lys2030=)
c.6079A= (p.Lys2027=)
c.6094A= (p.Lys2032=)
c.391A= (p.Lys131=)
Xg.32287603C>ACA515860692DMDc.1062G>T (p.Val354=)
c.6216G>T (p.Val2072=)
c.2184G>T (p.Val728=)
c.6204G>T (p.Val2068=)
n.336-70540G>T
c.6192G>T (p.Val2064=)
c.5847G>T (p.Val1949=)
c.2193G>T (p.Val731=)
c.6087G>T (p.Val2029=)
c.6078G>T (p.Val2026=)
c.6093G>T (p.Val2031=)
c.390G>T (p.Val130=)
Xg.32287603C=CA2422736427DMDc.1062G= (p.Val354=)
c.6216G= (p.Val2072=)
c.2184G= (p.Val728=)
c.6204G= (p.Val2068=)
n.336-70540G=
c.6192G= (p.Val2064=)
c.5847G= (p.Val1949=)
c.2193G= (p.Val731=)
c.6087G= (p.Val2029=)
c.6078G= (p.Val2026=)
c.6093G= (p.Val2031=)
c.390G= (p.Val130=)
Xg.32287603C>GCA515860694DMDc.1062G>C (p.Val354=)
c.6216G>C (p.Val2072=)
c.2184G>C (p.Val728=)
c.6204G>C (p.Val2068=)
n.336-70540G>C
c.6192G>C (p.Val2064=)
c.5847G>C (p.Val1949=)
c.2193G>C (p.Val731=)
c.6087G>C (p.Val2029=)
c.6078G>C (p.Val2026=)
c.6093G>C (p.Val2031=)
c.390G>C (p.Val130=)
Xg.32287603C>TCA10378511DMDc.1062G>A (p.Val354=)
c.6216G>A (p.Val2072=)
c.2184G>A (p.Val728=)
c.6204G>A (p.Val2068=)
n.336-70540G>A
c.6192G>A (p.Val2064=)
c.5847G>A (p.Val1949=)
c.2193G>A (p.Val731=)
c.6087G>A (p.Val2029=)
c.6078G>A (p.Val2026=)
c.6093G>A (p.Val2031=)
c.390G>A (p.Val130=)
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.32287604A>CCA412665994DMDc.1061T>G (p.Val354Gly)
c.6215T>G (p.Val2072Gly)
c.2183T>G (p.Val728Gly)
c.6203T>G (p.Val2068Gly)
n.336-70541T>G
c.6191T>G (p.Val2064Gly)
c.5846T>G (p.Val1949Gly)
c.2192T>G (p.Val731Gly)
c.6086T>G (p.Val2029Gly)
c.6077T>G (p.Val2026Gly)
c.6092T>G (p.Val2031Gly)
c.389T>G (p.Val130Gly)
Xg.32287604A>GCA412665997DMDc.1061T>C (p.Val354Ala)
c.6215T>C (p.Val2072Ala)
c.2183T>C (p.Val728Ala)
c.6203T>C (p.Val2068Ala)
n.336-70541T>C
c.6191T>C (p.Val2064Ala)
c.5846T>C (p.Val1949Ala)
c.2192T>C (p.Val731Ala)
c.6086T>C (p.Val2029Ala)
c.6077T>C (p.Val2026Ala)
c.6092T>C (p.Val2031Ala)
c.389T>C (p.Val130Ala)
 gnomAD v4
Xg.32287604A>TCA412666000DMDc.1061T>A (p.Val354Glu)
c.6215T>A (p.Val2072Glu)
c.2183T>A (p.Val728Glu)
c.6203T>A (p.Val2068Glu)
n.336-70541T>A
c.6191T>A (p.Val2064Glu)
c.5846T>A (p.Val1949Glu)
c.2192T>A (p.Val731Glu)
c.6086T>A (p.Val2029Glu)
c.6077T>A (p.Val2026Glu)
c.6092T>A (p.Val2031Glu)
c.389T>A (p.Val130Glu)
 gnomAD v4
Xg.32287605C>ACA412666006DMDc.1060G>T (p.Val354Leu)
c.6214G>T (p.Val2072Leu)
c.2182G>T (p.Val728Leu)
c.6202G>T (p.Val2068Leu)
n.336-70542G>T
c.6190G>T (p.Val2064Leu)
c.5845G>T (p.Val1949Leu)
c.2191G>T (p.Val731Leu)
c.6085G>T (p.Val2029Leu)
c.6076G>T (p.Val2026Leu)
c.6091G>T (p.Val2031Leu)
c.388G>T (p.Val130Leu)
Xg.32287605C>GCA412666008DMDc.1060G>C (p.Val354Leu)
c.6214G>C (p.Val2072Leu)
c.2182G>C (p.Val728Leu)
c.6202G>C (p.Val2068Leu)
n.336-70542G>C
c.6190G>C (p.Val2064Leu)
c.5845G>C (p.Val1949Leu)
c.2191G>C (p.Val731Leu)
c.6085G>C (p.Val2029Leu)
c.6076G>C (p.Val2026Leu)
c.6091G>C (p.Val2031Leu)
c.388G>C (p.Val130Leu)
Xg.32287605C>TCA412666011DMDc.1060G>A (p.Val354Met)
c.6214G>A (p.Val2072Met)
c.2182G>A (p.Val728Met)
c.6202G>A (p.Val2068Met)
n.336-70542G>A
c.6190G>A (p.Val2064Met)
c.5845G>A (p.Val1949Met)
c.2191G>A (p.Val731Met)
c.6085G>A (p.Val2029Met)
c.6076G>A (p.Val2026Met)
c.6091G>A (p.Val2031Met)
c.388G>A (p.Val130Met)
 COSMIC
Xg.32287606C>ACA412666014DMDc.1059G>T (p.Arg353Ser)
c.6213G>T (p.Arg2071Ser)
c.2181G>T (p.Arg727Ser)
c.6201G>T (p.Arg2067Ser)
n.336-70543G>T
c.6189G>T (p.Arg2063Ser)
c.5844G>T (p.Arg1948Ser)
c.2190G>T (p.Arg730Ser)
c.6084G>T (p.Arg2028Ser)
c.6075G>T (p.Arg2025Ser)
c.6090G>T (p.Arg2030Ser)
c.387G>T (p.Arg129Ser)
Xg.32287606C=CA2422736428DMDc.1059G= (p.Arg353=)
c.6213G= (p.Arg2071=)
c.2181G= (p.Arg727=)
c.6201G= (p.Arg2067=)
n.336-70543G=
c.6189G= (p.Arg2063=)
c.5844G= (p.Arg1948=)
c.2190G= (p.Arg730=)
c.6084G= (p.Arg2028=)
c.6075G= (p.Arg2025=)
c.6090G= (p.Arg2030=)
c.387G= (p.Arg129=)
Xg.32287606C>GCA412666017DMDc.1059G>C (p.Arg353Ser)
c.6213G>C (p.Arg2071Ser)
c.2181G>C (p.Arg727Ser)
c.6201G>C (p.Arg2067Ser)
n.336-70543G>C
c.6189G>C (p.Arg2063Ser)
c.5844G>C (p.Arg1948Ser)
c.2190G>C (p.Arg730Ser)
c.6084G>C (p.Arg2028Ser)
c.6075G>C (p.Arg2025Ser)
c.6090G>C (p.Arg2030Ser)
c.387G>C (p.Arg129Ser)
Xg.32287606C>TCA10378512DMDc.1059G>A (p.Arg353=)
c.6213G>A (p.Arg2071=)
c.2181G>A (p.Arg727=)
c.6201G>A (p.Arg2067=)
n.336-70543G>A
c.6189G>A (p.Arg2063=)
c.5844G>A (p.Arg1948=)
c.2190G>A (p.Arg730=)
c.6084G>A (p.Arg2028=)
c.6075G>A (p.Arg2025=)
c.6090G>A (p.Arg2030=)
c.387G>A (p.Arg129=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287607C>ACA412666020DMDc.1058G>T (p.Arg353Met)
c.6212G>T (p.Arg2071Met)
c.2180G>T (p.Arg727Met)
c.6200G>T (p.Arg2067Met)
n.336-70544G>T
c.6188G>T (p.Arg2063Met)
c.5843G>T (p.Arg1948Met)
c.2189G>T (p.Arg730Met)
c.6083G>T (p.Arg2028Met)
c.6074G>T (p.Arg2025Met)
c.6089G>T (p.Arg2030Met)
c.386G>T (p.Arg129Met)
Xg.32287607C=CA2422736429DMDc.1058G= (p.Arg353=)
c.6212G= (p.Arg2071=)
c.2180G= (p.Arg727=)
c.6200G= (p.Arg2067=)
n.336-70544G=
c.6188G= (p.Arg2063=)
c.5843G= (p.Arg1948=)
c.2189G= (p.Arg730=)
c.6083G= (p.Arg2028=)
c.6074G= (p.Arg2025=)
c.6089G= (p.Arg2030=)
c.386G= (p.Arg129=)
Xg.32287607C>GCA328529826DMDc.1058G>C (p.Arg353Thr)
c.6212G>C (p.Arg2071Thr)
c.2180G>C (p.Arg727Thr)
c.6200G>C (p.Arg2067Thr)
n.336-70544G>C
c.6188G>C (p.Arg2063Thr)
c.5843G>C (p.Arg1948Thr)
c.2189G>C (p.Arg730Thr)
c.6083G>C (p.Arg2028Thr)
c.6074G>C (p.Arg2025Thr)
c.6089G>C (p.Arg2030Thr)
c.386G>C (p.Arg129Thr)
 ClinVar dbSNP gnomAD v4
Xg.32287607C>TCA10378513DMDc.1058G>A (p.Arg353Lys)
c.6212G>A (p.Arg2071Lys)
c.2180G>A (p.Arg727Lys)
c.6200G>A (p.Arg2067Lys)
n.336-70544G>A
c.6188G>A (p.Arg2063Lys)
c.5843G>A (p.Arg1948Lys)
c.2189G>A (p.Arg730Lys)
c.6083G>A (p.Arg2028Lys)
c.6074G>A (p.Arg2025Lys)
c.6089G>A (p.Arg2030Lys)
c.386G>A (p.Arg129Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287608T>ACA412666029DMDc.1057A>T (p.Arg353Trp)
c.6211A>T (p.Arg2071Trp)
c.2179A>T (p.Arg727Trp)
c.6199A>T (p.Arg2067Trp)
n.336-70545A>T
c.6187A>T (p.Arg2063Trp)
c.5842A>T (p.Arg1948Trp)
c.2188A>T (p.Arg730Trp)
c.6082A>T (p.Arg2028Trp)
c.6073A>T (p.Arg2025Trp)
c.6088A>T (p.Arg2030Trp)
c.385A>T (p.Arg129Trp)
Xg.32287608T>CCA412666032DMDc.1057A>G (p.Arg353Gly)
c.6211A>G (p.Arg2071Gly)
c.2179A>G (p.Arg727Gly)
c.6199A>G (p.Arg2067Gly)
n.336-70545A>G
c.6187A>G (p.Arg2063Gly)
c.5842A>G (p.Arg1948Gly)
c.2188A>G (p.Arg730Gly)
c.6082A>G (p.Arg2028Gly)
c.6073A>G (p.Arg2025Gly)
c.6088A>G (p.Arg2030Gly)
c.385A>G (p.Arg129Gly)
Xg.32287608T>GCA515860704DMDc.1057A>C (p.Arg353=)
c.6211A>C (p.Arg2071=)
c.2179A>C (p.Arg727=)
c.6199A>C (p.Arg2067=)
n.336-70545A>C
c.6187A>C (p.Arg2063=)
c.5842A>C (p.Arg1948=)
c.2188A>C (p.Arg730=)
c.6082A>C (p.Arg2028=)
c.6073A>C (p.Arg2025=)
c.6088A>C (p.Arg2030=)
c.385A>C (p.Arg129=)
Xg.32287609T>ACA412666036DMDc.1056A>T (p.Glu352Asp)
c.6210A>T (p.Glu2070Asp)
c.2178A>T (p.Glu726Asp)
c.6198A>T (p.Glu2066Asp)
n.336-70546A>T
c.6186A>T (p.Glu2062Asp)
c.5841A>T (p.Glu1947Asp)
c.2187A>T (p.Glu729Asp)
c.6081A>T (p.Glu2027Asp)
c.6072A>T (p.Glu2024Asp)
c.6087A>T (p.Glu2029Asp)
c.384A>T (p.Glu128Asp)
Xg.32287609T>CCA515860708DMDc.1056A>G (p.Glu352=)
c.6210A>G (p.Glu2070=)
c.2178A>G (p.Glu726=)
c.6198A>G (p.Glu2066=)
n.336-70546A>G
c.6186A>G (p.Glu2062=)
c.5841A>G (p.Glu1947=)
c.2187A>G (p.Glu729=)
c.6081A>G (p.Glu2027=)
c.6072A>G (p.Glu2024=)
c.6087A>G (p.Glu2029=)
c.384A>G (p.Glu128=)
Xg.32287609T>GCA412666038DMDc.1056A>C (p.Glu352Asp)
c.6210A>C (p.Glu2070Asp)
c.2178A>C (p.Glu726Asp)
c.6198A>C (p.Glu2066Asp)
n.336-70546A>C
c.6186A>C (p.Glu2062Asp)
c.5841A>C (p.Glu1947Asp)
c.2187A>C (p.Glu729Asp)
c.6081A>C (p.Glu2027Asp)
c.6072A>C (p.Glu2024Asp)
c.6087A>C (p.Glu2029Asp)
c.384A>C (p.Glu128Asp)
Xg.32287610T>ACA412666043DMDc.1055A>T (p.Glu352Val)
c.6209A>T (p.Glu2070Val)
c.2177A>T (p.Glu726Val)
c.6197A>T (p.Glu2066Val)
n.336-70547A>T
c.6185A>T (p.Glu2062Val)
c.5840A>T (p.Glu1947Val)
c.2186A>T (p.Glu729Val)
c.6080A>T (p.Glu2027Val)
c.6071A>T (p.Glu2024Val)
c.6086A>T (p.Glu2029Val)
c.383A>T (p.Glu128Val)
Xg.32287610T>CCA412666046DMDc.1055A>G (p.Glu352Gly)
c.6209A>G (p.Glu2070Gly)
c.2177A>G (p.Glu726Gly)
c.6197A>G (p.Glu2066Gly)
n.336-70547A>G
c.6185A>G (p.Glu2062Gly)
c.5840A>G (p.Glu1947Gly)
c.2186A>G (p.Glu729Gly)
c.6080A>G (p.Glu2027Gly)
c.6071A>G (p.Glu2024Gly)
c.6086A>G (p.Glu2029Gly)
c.383A>G (p.Glu128Gly)
Xg.32287610T>GCA412666050DMDc.1055A>C (p.Glu352Ala)
c.6209A>C (p.Glu2070Ala)
c.2177A>C (p.Glu726Ala)
c.6197A>C (p.Glu2066Ala)
n.336-70547A>C
c.6185A>C (p.Glu2062Ala)
c.5840A>C (p.Glu1947Ala)
c.2186A>C (p.Glu729Ala)
c.6080A>C (p.Glu2027Ala)
c.6071A>C (p.Glu2024Ala)
c.6086A>C (p.Glu2029Ala)
c.383A>C (p.Glu128Ala)
Xg.32287611C>ACA412666054DMDc.1054G>T (p.Glu352Ter)
c.6208G>T (p.Glu2070Ter)
c.2176G>T (p.Glu726Ter)
c.6196G>T (p.Glu2066Ter)
n.336-70548G>T
c.6184G>T (p.Glu2062Ter)
c.5839G>T (p.Glu1947Ter)
c.2185G>T (p.Glu729Ter)
c.6079G>T (p.Glu2027Ter)
c.6070G>T (p.Glu2024Ter)
c.6085G>T (p.Glu2029Ter)
c.382G>T (p.Glu128Ter)
 COSMIC COSMIC COSMIC COSMIC
Xg.32287611C>GCA412666057DMDc.1054G>C (p.Glu352Gln)
c.6208G>C (p.Glu2070Gln)
c.2176G>C (p.Glu726Gln)
c.6196G>C (p.Glu2066Gln)
n.336-70548G>C
c.6184G>C (p.Glu2062Gln)
c.5839G>C (p.Glu1947Gln)
c.2185G>C (p.Glu729Gln)
c.6079G>C (p.Glu2027Gln)
c.6070G>C (p.Glu2024Gln)
c.6085G>C (p.Glu2029Gln)
c.382G>C (p.Glu128Gln)
Xg.32287611C>TCA412666060DMDc.1054G>A (p.Glu352Lys)
c.6208G>A (p.Glu2070Lys)
c.2176G>A (p.Glu726Lys)
c.6196G>A (p.Glu2066Lys)
n.336-70548G>A
c.6184G>A (p.Glu2062Lys)
c.5839G>A (p.Glu1947Lys)
c.2185G>A (p.Glu729Lys)
c.6079G>A (p.Glu2027Lys)
c.6070G>A (p.Glu2024Lys)
c.6085G>A (p.Glu2029Lys)
c.382G>A (p.Glu128Lys)
Xg.32287612C>ACA515860715DMDc.1053G>T (p.Val351=)
c.6207G>T (p.Val2069=)
c.2175G>T (p.Val725=)
c.6195G>T (p.Val2065=)
n.336-70549G>T
c.6183G>T (p.Val2061=)
c.5838G>T (p.Val1946=)
c.2184G>T (p.Val728=)
c.6078G>T (p.Val2026=)
c.6069G>T (p.Val2023=)
c.6084G>T (p.Val2028=)
c.381G>T (p.Val127=)
Xg.32287612C>GCA515860718DMDc.1053G>C (p.Val351=)
c.6207G>C (p.Val2069=)
c.2175G>C (p.Val725=)
c.6195G>C (p.Val2065=)
n.336-70549G>C
c.6183G>C (p.Val2061=)
c.5838G>C (p.Val1946=)
c.2184G>C (p.Val728=)
c.6078G>C (p.Val2026=)
c.6069G>C (p.Val2023=)
c.6084G>C (p.Val2028=)
c.381G>C (p.Val127=)
Xg.32287612C>TCA515860716DMDc.1053G>A (p.Val351=)
c.6207G>A (p.Val2069=)
c.2175G>A (p.Val725=)
c.6195G>A (p.Val2065=)
n.336-70549G>A
c.6183G>A (p.Val2061=)
c.5838G>A (p.Val1946=)
c.2184G>A (p.Val728=)
c.6078G>A (p.Val2026=)
c.6069G>A (p.Val2023=)
c.6084G>A (p.Val2028=)
c.381G>A (p.Val127=)
Xg.32287613A>CCA412666069DMDc.1052T>G (p.Val351Gly)
c.6206T>G (p.Val2069Gly)
c.2174T>G (p.Val725Gly)
c.6194T>G (p.Val2065Gly)
n.336-70550T>G
c.6182T>G (p.Val2061Gly)
c.5837T>G (p.Val1946Gly)
c.2183T>G (p.Val728Gly)
c.6077T>G (p.Val2026Gly)
c.6068T>G (p.Val2023Gly)
c.6083T>G (p.Val2028Gly)
c.380T>G (p.Val127Gly)
Xg.32287613A>GCA412666067DMDc.1052T>C (p.Val351Ala)
c.6206T>C (p.Val2069Ala)
c.2174T>C (p.Val725Ala)
c.6194T>C (p.Val2065Ala)
n.336-70550T>C
c.6182T>C (p.Val2061Ala)
c.5837T>C (p.Val1946Ala)
c.2183T>C (p.Val728Ala)
c.6077T>C (p.Val2026Ala)
c.6068T>C (p.Val2023Ala)
c.6083T>C (p.Val2028Ala)
c.380T>C (p.Val127Ala)
Xg.32287613A>TCA412666063DMDc.1052T>A (p.Val351Glu)
c.6206T>A (p.Val2069Glu)
c.2174T>A (p.Val725Glu)
c.6194T>A (p.Val2065Glu)
n.336-70550T>A
c.6182T>A (p.Val2061Glu)
c.5837T>A (p.Val1946Glu)
c.2183T>A (p.Val728Glu)
c.6077T>A (p.Val2026Glu)
c.6068T>A (p.Val2023Glu)
c.6083T>A (p.Val2028Glu)
c.380T>A (p.Val127Glu)
 COSMIC COSMIC COSMIC COSMIC
Xg.32287613_32287614delinsACCA2422736430DMDc.1051_1052delinsGT (p.Val351=)
c.6205_6206delinsGT (p.Val2069=)
c.2173_2174delinsGT (p.Val725=)
c.6193_6194delinsGT (p.Val2065=)
n.336-70551_336-70550delinsGT
c.6181_6182delinsGT (p.Val2061=)
c.5836_5837delinsGT (p.Val1946=)
c.2182_2183delinsGT (p.Val728=)
c.6076_6077delinsGT (p.Val2026=)
c.6067_6068delinsGT (p.Val2023=)
c.6082_6083delinsGT (p.Val2028=)
c.379_380delinsGT (p.Val127=)
Xg.32287614delCA16616672DMDc.1051del (p.Val351TrpfsTer4)
c.6205del (p.Val2069TrpfsTer4)
c.2173del (p.Val725TrpfsTer4)
c.6193del (p.Val2065TrpfsTer4)
n.336-70551del
c.6181del (p.Val2061TrpfsTer4)
c.5836del (p.Val1946TrpfsTer4)
c.2182del (p.Val728TrpfsTer4)
c.6076del (p.Val2026TrpfsTer4)
c.6067del (p.Val2023TrpfsTer4)
c.6082del (p.Val2028TrpfsTer4)
c.379del (p.Val127TrpfsTer4)
 ClinVar dbSNP
Xg.32287614C>ACA412666074DMDc.1051G>T (p.Val351Leu)
c.6205G>T (p.Val2069Leu)
c.2173G>T (p.Val725Leu)
c.6193G>T (p.Val2065Leu)
n.336-70551G>T
c.6181G>T (p.Val2061Leu)
c.5836G>T (p.Val1946Leu)
c.2182G>T (p.Val728Leu)
c.6076G>T (p.Val2026Leu)
c.6067G>T (p.Val2023Leu)
c.6082G>T (p.Val2028Leu)
c.379G>T (p.Val127Leu)
Xg.32287614C>GCA412666077DMDc.1051G>C (p.Val351Leu)
c.6205G>C (p.Val2069Leu)
c.2173G>C (p.Val725Leu)
c.6193G>C (p.Val2065Leu)
n.336-70551G>C
c.6181G>C (p.Val2061Leu)
c.5836G>C (p.Val1946Leu)
c.2182G>C (p.Val728Leu)
c.6076G>C (p.Val2026Leu)
c.6067G>C (p.Val2023Leu)
c.6082G>C (p.Val2028Leu)
c.379G>C (p.Val127Leu)
Xg.32287614C>TCA412666080DMDc.1051G>A (p.Val351Met)
c.6205G>A (p.Val2069Met)
c.2173G>A (p.Val725Met)
c.6193G>A (p.Val2065Met)
n.336-70551G>A
c.6181G>A (p.Val2061Met)
c.5836G>A (p.Val1946Met)
c.2182G>A (p.Val728Met)
c.6076G>A (p.Val2026Met)
c.6067G>A (p.Val2023Met)
c.6082G>A (p.Val2028Met)
c.379G>A (p.Val127Met)
 gnomAD v4
Xg.32287615A>CCA515860725DMDc.1050T>G (p.Pro350=)
c.6204T>G (p.Pro2068=)
c.2172T>G (p.Pro724=)
c.6192T>G (p.Pro2064=)
n.336-70552T>G
c.6180T>G (p.Pro2060=)
c.5835T>G (p.Pro1945=)
c.2181T>G (p.Pro727=)
c.6075T>G (p.Pro2025=)
c.6066T>G (p.Pro2022=)
c.6081T>G (p.Pro2027=)
c.378T>G (p.Pro126=)
Xg.32287615A>GCA515860729DMDc.1050T>C (p.Pro350=)
c.6204T>C (p.Pro2068=)
c.2172T>C (p.Pro724=)
c.6192T>C (p.Pro2064=)
n.336-70552T>C
c.6180T>C (p.Pro2060=)
c.5835T>C (p.Pro1945=)
c.2181T>C (p.Pro727=)
c.6075T>C (p.Pro2025=)
c.6066T>C (p.Pro2022=)
c.6081T>C (p.Pro2027=)
c.378T>C (p.Pro126=)
Xg.32287615A>TCA515860727DMDc.1050T>A (p.Pro350=)
c.6204T>A (p.Pro2068=)
c.2172T>A (p.Pro724=)
c.6192T>A (p.Pro2064=)
n.336-70552T>A
c.6180T>A (p.Pro2060=)
c.5835T>A (p.Pro1945=)
c.2181T>A (p.Pro727=)
c.6075T>A (p.Pro2025=)
c.6066T>A (p.Pro2022=)
c.6081T>A (p.Pro2027=)
c.378T>A (p.Pro126=)
Xg.32287615_32287616delinsAGCA2422736431DMDc.1049_1050delinsCT (p.Pro350=)
c.6203_6204delinsCT (p.Pro2068=)
c.2171_2172delinsCT (p.Pro724=)
c.6191_6192delinsCT (p.Pro2064=)
n.336-70553_336-70552delinsCT
c.6179_6180delinsCT (p.Pro2060=)
c.5834_5835delinsCT (p.Pro1945=)
c.2180_2181delinsCT (p.Pro727=)
c.6074_6075delinsCT (p.Pro2025=)
c.6065_6066delinsCT (p.Pro2022=)
c.6080_6081delinsCT (p.Pro2027=)
c.377_378delinsCT (p.Pro126=)
Xg.32287616G>ACA412666085DMDc.1049C>T (p.Pro350Leu)
c.6203C>T (p.Pro2068Leu)
c.2171C>T (p.Pro724Leu)
c.6191C>T (p.Pro2064Leu)
n.336-70553C>T
c.6179C>T (p.Pro2060Leu)
c.5834C>T (p.Pro1945Leu)
c.2180C>T (p.Pro727Leu)
c.6074C>T (p.Pro2025Leu)
c.6065C>T (p.Pro2022Leu)
c.6080C>T (p.Pro2027Leu)
c.377C>T (p.Pro126Leu)
Xg.32287616G>CCA412666087DMDc.1049C>G (p.Pro350Arg)
c.6203C>G (p.Pro2068Arg)
c.2171C>G (p.Pro724Arg)
c.6191C>G (p.Pro2064Arg)
n.336-70553C>G
c.6179C>G (p.Pro2060Arg)
c.5834C>G (p.Pro1945Arg)
c.2180C>G (p.Pro727Arg)
c.6074C>G (p.Pro2025Arg)
c.6065C>G (p.Pro2022Arg)
c.6080C>G (p.Pro2027Arg)
c.377C>G (p.Pro126Arg)
Xg.32287616G>TCA412666090DMDc.1049C>A (p.Pro350His)
c.6203C>A (p.Pro2068His)
c.2171C>A (p.Pro724His)
c.6191C>A (p.Pro2064His)
n.336-70553C>A
c.6179C>A (p.Pro2060His)
c.5834C>A (p.Pro1945His)
c.2180C>A (p.Pro727His)
c.6074C>A (p.Pro2025His)
c.6065C>A (p.Pro2022His)
c.6080C>A (p.Pro2027His)
c.377C>A (p.Pro126His)
Xg.32287617delCA1139667361DMDc.1049del (p.Pro350LeufsTer5)
c.6203del (p.Pro2068LeufsTer5)
c.2171del (p.Pro724LeufsTer5)
c.6191del (p.Pro2064LeufsTer5)
n.336-70553del
c.6179del (p.Pro2060LeufsTer5)
c.5834del (p.Pro1945LeufsTer5)
c.2180del (p.Pro727LeufsTer5)
c.6074del (p.Pro2025LeufsTer5)
c.6065del (p.Pro2022LeufsTer5)
c.6080del (p.Pro2027LeufsTer5)
c.377del (p.Pro126LeufsTer5)
 ClinVar dbSNP
Xg.32287616_32287618delinsTGGGCA2695232715DMDc.1047_1049delinsCCCA (p.Val351CysfsTer14)
c.6201_6203delinsCCCA (p.Val2069CysfsTer14)
c.2169_2171delinsCCCA (p.Val725CysfsTer14)
c.6189_6191delinsCCCA (p.Val2065CysfsTer14)
n.336-70555_336-70553delinsCCCA
c.6177_6179delinsCCCA (p.Val2061CysfsTer14)
c.5832_5834delinsCCCA (p.Val1946CysfsTer14)
c.2178_2180delinsCCCA (p.Val728CysfsTer14)
c.6072_6074delinsCCCA (p.Val2026CysfsTer14)
c.6063_6065delinsCCCA (p.Val2023CysfsTer14)
c.6078_6080delinsCCCA (p.Val2028CysfsTer14)
c.375_377delinsCCCA (p.Val127CysfsTer14)
Xg.32287617G>ACA10378514DMDc.1048C>T (p.Pro350Ser)
c.6202C>T (p.Pro2068Ser)
c.2170C>T (p.Pro724Ser)
c.6190C>T (p.Pro2064Ser)
n.336-70554C>T
c.6178C>T (p.Pro2060Ser)
c.5833C>T (p.Pro1945Ser)
c.2179C>T (p.Pro727Ser)
c.6073C>T (p.Pro2025Ser)
c.6064C>T (p.Pro2022Ser)
c.6079C>T (p.Pro2027Ser)
c.376C>T (p.Pro126Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287617G>CCA412666094DMDc.1048C>G (p.Pro350Ala)
c.6202C>G (p.Pro2068Ala)
c.2170C>G (p.Pro724Ala)
c.6190C>G (p.Pro2064Ala)
n.336-70554C>G
c.6178C>G (p.Pro2060Ala)
c.5833C>G (p.Pro1945Ala)
c.2179C>G (p.Pro727Ala)
c.6073C>G (p.Pro2025Ala)
c.6064C>G (p.Pro2022Ala)
c.6079C>G (p.Pro2027Ala)
c.376C>G (p.Pro126Ala)
Xg.32287617G=CA2422736432DMDc.1048C= (p.Pro350=)
c.6202C= (p.Pro2068=)
c.2170C= (p.Pro724=)
c.6190C= (p.Pro2064=)
n.336-70554C=
c.6178C= (p.Pro2060=)
c.5833C= (p.Pro1945=)
c.2179C= (p.Pro727=)
c.6073C= (p.Pro2025=)
c.6064C= (p.Pro2022=)
c.6079C= (p.Pro2027=)
c.376C= (p.Pro126=)
Xg.32287617G>TCA412666097DMDc.1048C>A (p.Pro350Thr)
c.6202C>A (p.Pro2068Thr)
c.2170C>A (p.Pro724Thr)
c.6190C>A (p.Pro2064Thr)
n.336-70554C>A
c.6178C>A (p.Pro2060Thr)
c.5833C>A (p.Pro1945Thr)
c.2179C>A (p.Pro727Thr)
c.6073C>A (p.Pro2025Thr)
c.6064C>A (p.Pro2022Thr)
c.6079C>A (p.Pro2027Thr)
c.376C>A (p.Pro126Thr)
 ClinVar dbSNP
Xg.32287618C>ACA515860736DMDc.1047G>T (p.Thr349=)
c.6201G>T (p.Thr2067=)
c.2169G>T (p.Thr723=)
c.6189G>T (p.Thr2063=)
n.336-70555G>T
c.6177G>T (p.Thr2059=)
c.5832G>T (p.Thr1944=)
c.2178G>T (p.Thr726=)
c.6072G>T (p.Thr2024=)
c.6063G>T (p.Thr2021=)
c.6078G>T (p.Thr2026=)
c.375G>T (p.Thr125=)
 COSMIC COSMIC COSMIC COSMIC
Xg.32287618C=CA2422736433DMDc.1047G= (p.Thr349=)
c.6201G= (p.Thr2067=)
c.2169G= (p.Thr723=)
c.6189G= (p.Thr2063=)
n.336-70555G=
c.6177G= (p.Thr2059=)
c.5832G= (p.Thr1944=)
c.2178G= (p.Thr726=)
c.6072G= (p.Thr2024=)
c.6063G= (p.Thr2021=)
c.6078G= (p.Thr2026=)
c.375G= (p.Thr125=)
Xg.32287618C>GCA515860737DMDc.1047G>C (p.Thr349=)
c.6201G>C (p.Thr2067=)
c.2169G>C (p.Thr723=)
c.6189G>C (p.Thr2063=)
n.336-70555G>C
c.6177G>C (p.Thr2059=)
c.5832G>C (p.Thr1944=)
c.2178G>C (p.Thr726=)
c.6072G>C (p.Thr2024=)
c.6063G>C (p.Thr2021=)
c.6078G>C (p.Thr2026=)
c.375G>C (p.Thr125=)
Xg.32287618C>TCA328529827DMDc.1047G>A (p.Thr349=)
c.6201G>A (p.Thr2067=)
c.2169G>A (p.Thr723=)
c.6189G>A (p.Thr2063=)
n.336-70555G>A
c.6177G>A (p.Thr2059=)
c.5832G>A (p.Thr1944=)
c.2178G>A (p.Thr726=)
c.6072G>A (p.Thr2024=)
c.6063G>A (p.Thr2021=)
c.6078G>A (p.Thr2026=)
c.375G>A (p.Thr125=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287619delCA2580100624DMDc.1046del (p.Thr349SerfsTer6)
c.6200del (p.Thr2067SerfsTer6)
c.2168del (p.Thr723SerfsTer6)
c.6188del (p.Thr2063SerfsTer6)
n.336-70556del
c.6176del (p.Thr2059SerfsTer6)
c.5831del (p.Thr1944SerfsTer6)
c.2177del (p.Thr726SerfsTer6)
c.6071del (p.Thr2024SerfsTer6)
c.6062del (p.Thr2021SerfsTer6)
c.6077del (p.Thr2026SerfsTer6)
c.374del (p.Thr125SerfsTer6)
 ClinVar dbSNP
Xg.32287619G>ACA412666100DMDc.1046C>T (p.Thr349Met)
c.6200C>T (p.Thr2067Met)
c.2168C>T (p.Thr723Met)
c.6188C>T (p.Thr2063Met)
n.336-70556C>T
c.6176C>T (p.Thr2059Met)
c.5831C>T (p.Thr1944Met)
c.2177C>T (p.Thr726Met)
c.6071C>T (p.Thr2024Met)
c.6062C>T (p.Thr2021Met)
c.6077C>T (p.Thr2026Met)
c.374C>T (p.Thr125Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32287619G>CCA412666103DMDc.1046C>G (p.Thr349Arg)
c.6200C>G (p.Thr2067Arg)
c.2168C>G (p.Thr723Arg)
c.6188C>G (p.Thr2063Arg)
n.336-70556C>G
c.6176C>G (p.Thr2059Arg)
c.5831C>G (p.Thr1944Arg)
c.2177C>G (p.Thr726Arg)
c.6071C>G (p.Thr2024Arg)
c.6062C>G (p.Thr2021Arg)
c.6077C>G (p.Thr2026Arg)
c.374C>G (p.Thr125Arg)
Xg.32287619G=CA2422736434DMDc.1046C= (p.Thr349=)
c.6200C= (p.Thr2067=)
c.2168C= (p.Thr723=)
c.6188C= (p.Thr2063=)
n.336-70556C=
c.6176C= (p.Thr2059=)
c.5831C= (p.Thr1944=)
c.2177C= (p.Thr726=)
c.6071C= (p.Thr2024=)
c.6062C= (p.Thr2021=)
c.6077C= (p.Thr2026=)
c.374C= (p.Thr125=)
Xg.32287619G>TCA412666106DMDc.1046C>A (p.Thr349Lys)
c.6200C>A (p.Thr2067Lys)
c.2168C>A (p.Thr723Lys)
c.6188C>A (p.Thr2063Lys)
n.336-70556C>A
c.6176C>A (p.Thr2059Lys)
c.5831C>A (p.Thr1944Lys)
c.2177C>A (p.Thr726Lys)
c.6071C>A (p.Thr2024Lys)
c.6062C>A (p.Thr2021Lys)
c.6077C>A (p.Thr2026Lys)
c.374C>A (p.Thr125Lys)
Xg.32287620T>ACA412666116DMDc.1045A>T (p.Thr349Ser)
c.6199A>T (p.Thr2067Ser)
c.2167A>T (p.Thr723Ser)
c.6187A>T (p.Thr2063Ser)
n.336-70557A>T
c.6175A>T (p.Thr2059Ser)
c.5830A>T (p.Thr1944Ser)
c.2176A>T (p.Thr726Ser)
c.6070A>T (p.Thr2024Ser)
c.6061A>T (p.Thr2021Ser)
c.6076A>T (p.Thr2026Ser)
c.373A>T (p.Thr125Ser)
Xg.32287620T>CCA412666113DMDc.1045A>G (p.Thr349Ala)
c.6199A>G (p.Thr2067Ala)
c.2167A>G (p.Thr723Ala)
c.6187A>G (p.Thr2063Ala)
n.336-70557A>G
c.6175A>G (p.Thr2059Ala)
c.5830A>G (p.Thr1944Ala)
c.2176A>G (p.Thr726Ala)
c.6070A>G (p.Thr2024Ala)
c.6061A>G (p.Thr2021Ala)
c.6076A>G (p.Thr2026Ala)
c.373A>G (p.Thr125Ala)
 COSMIC COSMIC COSMIC COSMIC
Xg.32287620T>GCA412666110DMDc.1045A>C (p.Thr349Pro)
c.6199A>C (p.Thr2067Pro)
c.2167A>C (p.Thr723Pro)
c.6187A>C (p.Thr2063Pro)
n.336-70557A>C
c.6175A>C (p.Thr2059Pro)
c.5830A>C (p.Thr1944Pro)
c.2176A>C (p.Thr726Pro)
c.6070A>C (p.Thr2024Pro)
c.6061A>C (p.Thr2021Pro)
c.6076A>C (p.Thr2026Pro)
c.373A>C (p.Thr125Pro)
Xg.32287621T>ACA515860744DMDc.1044A>T (p.Ala348=)
c.6198A>T (p.Ala2066=)
c.2166A>T (p.Ala722=)
c.6186A>T (p.Ala2062=)
n.336-70558A>T
c.6174A>T (p.Ala2058=)
c.5829A>T (p.Ala1943=)
c.2175A>T (p.Ala725=)
c.6069A>T (p.Ala2023=)
c.6060A>T (p.Ala2020=)
c.6075A>T (p.Ala2025=)
c.372A>T (p.Ala124=)
Xg.32287621T>CCA515860746DMDc.1044A>G (p.Ala348=)
c.6198A>G (p.Ala2066=)
c.2166A>G (p.Ala722=)
c.6186A>G (p.Ala2062=)
n.336-70558A>G
c.6174A>G (p.Ala2058=)
c.5829A>G (p.Ala1943=)
c.2175A>G (p.Ala725=)
c.6069A>G (p.Ala2023=)
c.6060A>G (p.Ala2020=)
c.6075A>G (p.Ala2025=)
c.372A>G (p.Ala124=)
Xg.32287621T>GCA515860748DMDc.1044A>C (p.Ala348=)
c.6198A>C (p.Ala2066=)
c.2166A>C (p.Ala722=)
c.6186A>C (p.Ala2062=)
n.336-70558A>C
c.6174A>C (p.Ala2058=)
c.5829A>C (p.Ala1943=)
c.2175A>C (p.Ala725=)
c.6069A>C (p.Ala2023=)
c.6060A>C (p.Ala2020=)
c.6075A>C (p.Ala2025=)
c.372A>C (p.Ala124=)
Xg.32287622G>ACA412666119DMDc.1043C>T (p.Ala348Val)
c.6197C>T (p.Ala2066Val)
c.2165C>T (p.Ala722Val)
c.6185C>T (p.Ala2062Val)
n.336-70559C>T
c.6173C>T (p.Ala2058Val)
c.5828C>T (p.Ala1943Val)
c.2174C>T (p.Ala725Val)
c.6068C>T (p.Ala2023Val)
c.6059C>T (p.Ala2020Val)
c.6074C>T (p.Ala2025Val)
c.371C>T (p.Ala124Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32287622G>CCA412666121DMDc.1043C>G (p.Ala348Gly)
c.6197C>G (p.Ala2066Gly)
c.2165C>G (p.Ala722Gly)
c.6185C>G (p.Ala2062Gly)
n.336-70559C>G
c.6173C>G (p.Ala2058Gly)
c.5828C>G (p.Ala1943Gly)
c.2174C>G (p.Ala725Gly)
c.6068C>G (p.Ala2023Gly)
c.6059C>G (p.Ala2020Gly)
c.6074C>G (p.Ala2025Gly)
c.371C>G (p.Ala124Gly)
Xg.32287622G=CA2422736435DMDc.1043C= (p.Ala348=)
c.6197C= (p.Ala2066=)
c.2165C= (p.Ala722=)
c.6185C= (p.Ala2062=)
n.336-70559C=
c.6173C= (p.Ala2058=)
c.5828C= (p.Ala1943=)
c.2174C= (p.Ala725=)
c.6068C= (p.Ala2023=)
c.6059C= (p.Ala2020=)
c.6074C= (p.Ala2025=)
c.371C= (p.Ala124=)
Xg.32287622G>TCA412666122DMDc.1043C>A (p.Ala348Glu)
c.6197C>A (p.Ala2066Glu)
c.2165C>A (p.Ala722Glu)
c.6185C>A (p.Ala2062Glu)
n.336-70559C>A
c.6173C>A (p.Ala2058Glu)
c.5828C>A (p.Ala1943Glu)
c.2174C>A (p.Ala725Glu)
c.6068C>A (p.Ala2023Glu)
c.6059C>A (p.Ala2020Glu)
c.6074C>A (p.Ala2025Glu)
c.371C>A (p.Ala124Glu)
Xg.32287623C>ACA412666129DMDc.1042G>T (p.Ala348Ser)
c.6196G>T (p.Ala2066Ser)
c.2164G>T (p.Ala722Ser)
c.6184G>T (p.Ala2062Ser)
n.336-70560G>T
c.6172G>T (p.Ala2058Ser)
c.5827G>T (p.Ala1943Ser)
c.2173G>T (p.Ala725Ser)
c.6067G>T (p.Ala2023Ser)
c.6058G>T (p.Ala2020Ser)
c.6073G>T (p.Ala2025Ser)
c.370G>T (p.Ala124Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32287623C=CA2422736436DMDc.1042G= (p.Ala348=)
c.6196G= (p.Ala2066=)
c.2164G= (p.Ala722=)
c.6184G= (p.Ala2062=)
n.336-70560G=
c.6172G= (p.Ala2058=)
c.5827G= (p.Ala1943=)
c.2173G= (p.Ala725=)
c.6067G= (p.Ala2023=)
c.6058G= (p.Ala2020=)
c.6073G= (p.Ala2025=)
c.370G= (p.Ala124=)
Xg.32287623C>GCA412666133DMDc.1042G>C (p.Ala348Pro)
c.6196G>C (p.Ala2066Pro)
c.2164G>C (p.Ala722Pro)
c.6184G>C (p.Ala2062Pro)
n.336-70560G>C
c.6172G>C (p.Ala2058Pro)
c.5827G>C (p.Ala1943Pro)
c.2173G>C (p.Ala725Pro)
c.6067G>C (p.Ala2023Pro)
c.6058G>C (p.Ala2020Pro)
c.6073G>C (p.Ala2025Pro)
c.370G>C (p.Ala124Pro)
Xg.32287623C>TCA412666137DMDc.1042G>A (p.Ala348Thr)
c.6196G>A (p.Ala2066Thr)
c.2164G>A (p.Ala722Thr)
c.6184G>A (p.Ala2062Thr)
n.336-70560G>A
c.6172G>A (p.Ala2058Thr)
c.5827G>A (p.Ala1943Thr)
c.2173G>A (p.Ala725Thr)
c.6067G>A (p.Ala2023Thr)
c.6058G>A (p.Ala2020Thr)
c.6073G>A (p.Ala2025Thr)
c.370G>A (p.Ala124Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287624A=CA2422736437DMDc.1041T= (p.Ser347=)
c.6195T= (p.Ser2065=)
c.2163T= (p.Ser721=)
c.6183T= (p.Ser2061=)
n.336-70561T=
c.6171T= (p.Ser2057=)
c.5826T= (p.Ser1942=)
c.2172T= (p.Ser724=)
c.6066T= (p.Ser2022=)
c.6057T= (p.Ser2019=)
c.6072T= (p.Ser2024=)
c.369T= (p.Ser123=)
Xg.32287624A>CCA412666141DMDc.1041T>G (p.Ser347Arg)
c.6195T>G (p.Ser2065Arg)
c.2163T>G (p.Ser721Arg)
c.6183T>G (p.Ser2061Arg)
n.336-70561T>G
c.6171T>G (p.Ser2057Arg)
c.5826T>G (p.Ser1942Arg)
c.2172T>G (p.Ser724Arg)
c.6066T>G (p.Ser2022Arg)
c.6057T>G (p.Ser2019Arg)
c.6072T>G (p.Ser2024Arg)
c.369T>G (p.Ser123Arg)
Xg.32287624A>GCA222450DMDc.1041T>C (p.Ser347=)
c.6195T>C (p.Ser2065=)
c.2163T>C (p.Ser721=)
c.6183T>C (p.Ser2061=)
n.336-70561T>C
c.6171T>C (p.Ser2057=)
c.5826T>C (p.Ser1942=)
c.2172T>C (p.Ser724=)
c.6066T>C (p.Ser2022=)
c.6057T>C (p.Ser2019=)
c.6072T>C (p.Ser2024=)
c.369T>C (p.Ser123=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32287624A>TCA412666143DMDc.1041T>A (p.Ser347Arg)
c.6195T>A (p.Ser2065Arg)
c.2163T>A (p.Ser721Arg)
c.6183T>A (p.Ser2061Arg)
n.336-70561T>A
c.6171T>A (p.Ser2057Arg)
c.5826T>A (p.Ser1942Arg)
c.2172T>A (p.Ser724Arg)
c.6066T>A (p.Ser2022Arg)
c.6057T>A (p.Ser2019Arg)
c.6072T>A (p.Ser2024Arg)
c.369T>A (p.Ser123Arg)
Xg.32287625C>ACA10378515DMDc.1040G>T (p.Ser347Ile)
c.6194G>T (p.Ser2065Ile)
c.2162G>T (p.Ser721Ile)
c.6182G>T (p.Ser2061Ile)
n.336-70562G>T
c.6170G>T (p.Ser2057Ile)
c.5825G>T (p.Ser1942Ile)
c.2171G>T (p.Ser724Ile)
c.6065G>T (p.Ser2022Ile)
c.6056G>T (p.Ser2019Ile)
c.6071G>T (p.Ser2024Ile)
c.368G>T (p.Ser123Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32287625C=CA2422736438DMDc.1040G= (p.Ser347=)
c.6194G= (p.Ser2065=)
c.2162G= (p.Ser721=)
c.6182G= (p.Ser2061=)
n.336-70562G=
c.6170G= (p.Ser2057=)
c.5825G= (p.Ser1942=)
c.2171G= (p.Ser724=)
c.6065G= (p.Ser2022=)
c.6056G= (p.Ser2019=)
c.6071G= (p.Ser2024=)
c.368G= (p.Ser123=)
Xg.32287625C>GCA412666149DMDc.1040G>C (p.Ser347Thr)
c.6194G>C (p.Ser2065Thr)
c.2162G>C (p.Ser721Thr)
c.6182G>C (p.Ser2061Thr)
n.336-70562G>C
c.6170G>C (p.Ser2057Thr)
c.5825G>C (p.Ser1942Thr)
c.2171G>C (p.Ser724Thr)
c.6065G>C (p.Ser2022Thr)
c.6056G>C (p.Ser2019Thr)
c.6071G>C (p.Ser2024Thr)
c.368G>C (p.Ser123Thr)
Xg.32287625C>TCA412666152DMDc.1040G>A (p.Ser347Asn)
c.6194G>A (p.Ser2065Asn)
c.2162G>A (p.Ser721Asn)
c.6182G>A (p.Ser2061Asn)
n.336-70562G>A
c.6170G>A (p.Ser2057Asn)
c.5825G>A (p.Ser1942Asn)
c.2171G>A (p.Ser724Asn)
c.6065G>A (p.Ser2022Asn)
c.6056G>A (p.Ser2019Asn)
c.6071G>A (p.Ser2024Asn)
c.368G>A (p.Ser123Asn)
Xg.32287626T>ACA412666159DMDc.1039A>T (p.Ser347Cys)
c.6193A>T (p.Ser2065Cys)
c.2161A>T (p.Ser721Cys)
c.6181A>T (p.Ser2061Cys)
n.336-70563A>T
c.6169A>T (p.Ser2057Cys)
c.5824A>T (p.Ser1942Cys)
c.2170A>T (p.Ser724Cys)
c.6064A>T (p.Ser2022Cys)
c.6055A>T (p.Ser2019Cys)
c.6070A>T (p.Ser2024Cys)
c.367A>T (p.Ser123Cys)
 gnomAD v4
Xg.32287626T>CCA412666157DMDc.1039A>G (p.Ser347Gly)
c.6193A>G (p.Ser2065Gly)
c.2161A>G (p.Ser721Gly)
c.6181A>G (p.Ser2061Gly)
n.336-70563A>G
c.6169A>G (p.Ser2057Gly)
c.5824A>G (p.Ser1942Gly)
c.2170A>G (p.Ser724Gly)
c.6064A>G (p.Ser2022Gly)
c.6055A>G (p.Ser2019Gly)
c.6070A>G (p.Ser2024Gly)
c.367A>G (p.Ser123Gly)
 gnomAD v4
Xg.32287626T>GCA412666154DMDc.1039A>C (p.Ser347Arg)
c.6193A>C (p.Ser2065Arg)
c.2161A>C (p.Ser721Arg)
c.6181A>C (p.Ser2061Arg)
n.336-70563A>C
c.6169A>C (p.Ser2057Arg)
c.5824A>C (p.Ser1942Arg)
c.2170A>C (p.Ser724Arg)
c.6064A>C (p.Ser2022Arg)
c.6055A>C (p.Ser2019Arg)
c.6070A>C (p.Ser2024Arg)
c.367A>C (p.Ser123Arg)
Xg.32287627T>ACA412666163DMDc.1038A>T (p.Gln346His)
c.6192A>T (p.Gln2064His)
c.2160A>T (p.Gln720His)
c.6180A>T (p.Gln2060His)
n.336-70564A>T
c.6168A>T (p.Gln2056His)
c.5823A>T (p.Gln1941His)
c.2169A>T (p.Gln723His)
c.6063A>T (p.Gln2021His)
c.6054A>T (p.Gln2018His)
c.6069A>T (p.Gln2023His)
c.366A>T (p.Gln122His)
Xg.32287627T>CCA515860761DMDc.1038A>G (p.Gln346=)
c.6192A>G (p.Gln2064=)
c.2160A>G (p.Gln720=)
c.6180A>G (p.Gln2060=)
n.336-70564A>G
c.6168A>G (p.Gln2056=)
c.5823A>G (p.Gln1941=)
c.2169A>G (p.Gln723=)
c.6063A>G (p.Gln2021=)
c.6054A>G (p.Gln2018=)
c.6069A>G (p.Gln2023=)
c.366A>G (p.Gln122=)
Xg.32287627T>GCA412666166DMDc.1038A>C (p.Gln346His)
c.6192A>C (p.Gln2064His)
c.2160A>C (p.Gln720His)
c.6180A>C (p.Gln2060His)
n.336-70564A>C
c.6168A>C (p.Gln2056His)
c.5823A>C (p.Gln1941His)
c.2169A>C (p.Gln723His)
c.6063A>C (p.Gln2021His)
c.6054A>C (p.Gln2018His)
c.6069A>C (p.Gln2023His)
c.366A>C (p.Gln122His)
Xg.32287628T>ACA412666170DMDc.1037A>T (p.Gln346Leu)
c.6191A>T (p.Gln2064Leu)
c.2159A>T (p.Gln720Leu)
c.6179A>T (p.Gln2060Leu)
n.336-70565A>T
c.6167A>T (p.Gln2056Leu)
c.5822A>T (p.Gln1941Leu)
c.2168A>T (p.Gln723Leu)
c.6062A>T (p.Gln2021Leu)
c.6053A>T (p.Gln2018Leu)
c.6068A>T (p.Gln2023Leu)
c.365A>T (p.Gln122Leu)
Xg.32287628T>CCA412666171DMDc.1037A>G (p.Gln346Arg)
c.6191A>G (p.Gln2064Arg)
c.2159A>G (p.Gln720Arg)
c.6179A>G (p.Gln2060Arg)
n.336-70565A>G
c.6167A>G (p.Gln2056Arg)
c.5822A>G (p.Gln1941Arg)
c.2168A>G (p.Gln723Arg)
c.6062A>G (p.Gln2021Arg)
c.6053A>G (p.Gln2018Arg)
c.6068A>G (p.Gln2023Arg)
c.365A>G (p.Gln122Arg)
Xg.32287628T>GCA412666172DMDc.1037A>C (p.Gln346Pro)
c.6191A>C (p.Gln2064Pro)
c.2159A>C (p.Gln720Pro)
c.6179A>C (p.Gln2060Pro)
n.336-70565A>C
c.6167A>C (p.Gln2056Pro)
c.5822A>C (p.Gln1941Pro)
c.2168A>C (p.Gln723Pro)
c.6062A>C (p.Gln2021Pro)
c.6053A>C (p.Gln2018Pro)
c.6068A>C (p.Gln2023Pro)
c.365A>C (p.Gln122Pro)
Xg.32287629G>ACA412666175DMDc.1036C>T (p.Gln346Ter)
c.6190C>T (p.Gln2064Ter)
c.2158C>T (p.Gln720Ter)
c.6178C>T (p.Gln2060Ter)
n.336-70566C>T
c.6166C>T (p.Gln2056Ter)
c.5821C>T (p.Gln1941Ter)
c.2167C>T (p.Gln723Ter)
c.6061C>T (p.Gln2021Ter)
c.6052C>T (p.Gln2018Ter)
c.6067C>T (p.Gln2023Ter)
c.364C>T (p.Gln122Ter)
 dbSNP
Xg.32287629G>CCA412666176DMDc.1036C>G (p.Gln346Glu)
c.6190C>G (p.Gln2064Glu)
c.2158C>G (p.Gln720Glu)
c.6178C>G (p.Gln2060Glu)
n.336-70566C>G
c.6166C>G (p.Gln2056Glu)
c.5821C>G (p.Gln1941Glu)
c.2167C>G (p.Gln723Glu)
c.6061C>G (p.Gln2021Glu)
c.6052C>G (p.Gln2018Glu)
c.6067C>G (p.Gln2023Glu)
c.364C>G (p.Gln122Glu)
Xg.32287629G>TCA412666177DMDc.1036C>A (p.Gln346Lys)
c.6190C>A (p.Gln2064Lys)
c.2158C>A (p.Gln720Lys)
c.6178C>A (p.Gln2060Lys)
n.336-70566C>A
c.6166C>A (p.Gln2056Lys)
c.5821C>A (p.Gln1941Lys)
c.2167C>A (p.Gln723Lys)
c.6061C>A (p.Gln2021Lys)
c.6052C>A (p.Gln2018Lys)
c.6067C>A (p.Gln2023Lys)
c.364C>A (p.Gln122Lys)
Xg.32287630C>ACA412666178DMDc.1035G>T (p.Leu345Phe)
c.6189G>T (p.Leu2063Phe)
c.2157G>T (p.Leu719Phe)
c.6177G>T (p.Leu2059Phe)
n.336-70567G>T
c.6165G>T (p.Leu2055Phe)
c.5820G>T (p.Leu1940Phe)
c.2166G>T (p.Leu722Phe)
c.6060G>T (p.Leu2020Phe)
c.6051G>T (p.Leu2017Phe)
c.6066G>T (p.Leu2022Phe)
c.363G>T (p.Leu121Phe)
Xg.32287630C=CA2422736439DMDc.1035G= (p.Leu345=)
c.6189G= (p.Leu2063=)
c.2157G= (p.Leu719=)
c.6177G= (p.Leu2059=)
n.336-70567G=
c.6165G= (p.Leu2055=)
c.5820G= (p.Leu1940=)
c.2166G= (p.Leu722=)
c.6060G= (p.Leu2020=)
c.6051G= (p.Leu2017=)
c.6066G= (p.Leu2022=)
c.363G= (p.Leu121=)
Xg.32287630C>GCA412666179DMDc.1035G>C (p.Leu345Phe)
c.6189G>C (p.Leu2063Phe)
c.2157G>C (p.Leu719Phe)
c.6177G>C (p.Leu2059Phe)
n.336-70567G>C
c.6165G>C (p.Leu2055Phe)
c.5820G>C (p.Leu1940Phe)
c.2166G>C (p.Leu722Phe)
c.6060G>C (p.Leu2020Phe)
c.6051G>C (p.Leu2017Phe)
c.6066G>C (p.Leu2022Phe)
c.363G>C (p.Leu121Phe)
Xg.32287630C>TCA515860769DMDc.1035G>A (p.Leu345=)
c.6189G>A (p.Leu2063=)
c.2157G>A (p.Leu719=)
c.6177G>A (p.Leu2059=)
n.336-70567G>A
c.6165G>A (p.Leu2055=)
c.5820G>A (p.Leu1940=)
c.2166G>A (p.Leu722=)
c.6060G>A (p.Leu2020=)
c.6051G>A (p.Leu2017=)
c.6066G>A (p.Leu2022=)
c.363G>A (p.Leu121=)
 dbSNP gnomAD v3 gnomAD v4
Xg.32287631A>CCA412666180DMDc.1034T>G (p.Leu345Trp)
c.6188T>G (p.Leu2063Trp)
c.2156T>G (p.Leu719Trp)
c.6176T>G (p.Leu2059Trp)
n.336-70568T>G
c.6164T>G (p.Leu2055Trp)
c.5819T>G (p.Leu1940Trp)
c.2165T>G (p.Leu722Trp)
c.6059T>G (p.Leu2020Trp)
c.6050T>G (p.Leu2017Trp)
c.6065T>G (p.Leu2022Trp)
c.362T>G (p.Leu121Trp)
Xg.32287631A>GCA412666182DMDc.1034T>C (p.Leu345Ser)
c.6188T>C (p.Leu2063Ser)
c.2156T>C (p.Leu719Ser)
c.6176T>C (p.Leu2059Ser)
n.336-70568T>C
c.6164T>C (p.Leu2055Ser)
c.5819T>C (p.Leu1940Ser)
c.2165T>C (p.Leu722Ser)
c.6059T>C (p.Leu2020Ser)
c.6050T>C (p.Leu2017Ser)
c.6065T>C (p.Leu2022Ser)
c.362T>C (p.Leu121Ser)
Xg.32287631A>TCA412666184DMDc.1034T>A (p.Leu345Ter)
c.6188T>A (p.Leu2063Ter)
c.2156T>A (p.Leu719Ter)
c.6176T>A (p.Leu2059Ter)
n.336-70568T>A
c.6164T>A (p.Leu2055Ter)
c.5819T>A (p.Leu1940Ter)
c.2165T>A (p.Leu722Ter)
c.6059T>A (p.Leu2020Ter)
c.6050T>A (p.Leu2017Ter)
c.6065T>A (p.Leu2022Ter)
c.362T>A (p.Leu121Ter)
 dbSNP
Xg.32287632A>CCA412666188DMDc.1033T>G (p.Leu345Val)
c.6187T>G (p.Leu2063Val)
c.2155T>G (p.Leu719Val)
c.6175T>G (p.Leu2059Val)
n.336-70569T>G
c.6163T>G (p.Leu2055Val)
c.5818T>G (p.Leu1940Val)
c.2164T>G (p.Leu722Val)
c.6058T>G (p.Leu2020Val)
c.6049T>G (p.Leu2017Val)
c.6064T>G (p.Leu2022Val)
c.361T>G (p.Leu121Val)
Xg.32287632A>GCA515860774DMDc.1033T>C (p.Leu345=)
c.6187T>C (p.Leu2063=)
c.2155T>C (p.Leu719=)
c.6175T>C (p.Leu2059=)
n.336-70569T>C
c.6163T>C (p.Leu2055=)
c.5818T>C (p.Leu1940=)
c.2164T>C (p.Leu722=)
c.6058T>C (p.Leu2020=)
c.6049T>C (p.Leu2017=)
c.6064T>C (p.Leu2022=)
c.361T>C (p.Leu121=)
 ClinVar
Xg.32287632A>TCA412666191DMDc.1033T>A (p.Leu345Met)
c.6187T>A (p.Leu2063Met)
c.2155T>A (p.Leu719Met)
c.6175T>A (p.Leu2059Met)
n.336-70569T>A
c.6163T>A (p.Leu2055Met)
c.5818T>A (p.Leu1940Met)
c.2164T>A (p.Leu722Met)
c.6058T>A (p.Leu2020Met)
c.6049T>A (p.Leu2017Met)
c.6064T>A (p.Leu2022Met)
c.361T>A (p.Leu121Met)
Xg.32287633T>ACA515860777DMDc.1032A>T (p.Ala344=)
c.6186A>T (p.Ala2062=)
c.2154A>T (p.Ala718=)
c.6174A>T (p.Ala2058=)
n.336-70570A>T
c.6162A>T (p.Ala2054=)
c.5817A>T (p.Ala1939=)
c.2163A>T (p.Ala721=)
c.6057A>T (p.Ala2019=)
c.6048A>T (p.Ala2016=)
c.6063A>T (p.Ala2021=)
c.360A>T (p.Ala120=)
Xg.32287633T>CCA515860778DMDc.1032A>G (p.Ala344=)
c.6186A>G (p.Ala2062=)
c.2154A>G (p.Ala718=)
c.6174A>G (p.Ala2058=)
n.336-70570A>G
c.6162A>G (p.Ala2054=)
c.5817A>G (p.Ala1939=)
c.2163A>G (p.Ala721=)
c.6057A>G (p.Ala2019=)
c.6048A>G (p.Ala2016=)
c.6063A>G (p.Ala2021=)
c.360A>G (p.Ala120=)
 ClinVar
Xg.32287633T>GCA515860780DMDc.1032A>C (p.Ala344=)
c.6186A>C (p.Ala2062=)
c.2154A>C (p.Ala718=)
c.6174A>C (p.Ala2058=)
n.336-70570A>C
c.6162A>C (p.Ala2054=)
c.5817A>C (p.Ala1939=)
c.2163A>C (p.Ala721=)
c.6057A>C (p.Ala2019=)
c.6048A>C (p.Ala2016=)
c.6063A>C (p.Ala2021=)
c.360A>C (p.Ala120=)
Xg.32287634G>ACA412666203DMDc.1031C>T (p.Ala344Val)
c.6185C>T (p.Ala2062Val)
c.2153C>T (p.Ala718Val)
c.6173C>T (p.Ala2058Val)
n.336-70571C>T
c.6161C>T (p.Ala2054Val)
c.5816C>T (p.Ala1939Val)
c.2162C>T (p.Ala721Val)
c.6056C>T (p.Ala2019Val)
c.6047C>T (p.Ala2016Val)
c.6062C>T (p.Ala2021Val)
c.359C>T (p.Ala120Val)
Xg.32287634G>CCA412666199DMDc.1031C>G (p.Ala344Gly)
c.6185C>G (p.Ala2062Gly)
c.2153C>G (p.Ala718Gly)
c.6173C>G (p.Ala2058Gly)
n.336-70571C>G
c.6161C>G (p.Ala2054Gly)
c.5816C>G (p.Ala1939Gly)
c.2162C>G (p.Ala721Gly)
c.6056C>G (p.Ala2019Gly)
c.6047C>G (p.Ala2016Gly)
c.6062C>G (p.Ala2021Gly)
c.359C>G (p.Ala120Gly)
Xg.32287634G>TCA412666194DMDc.1031C>A (p.Ala344Glu)
c.6185C>A (p.Ala2062Glu)
c.2153C>A (p.Ala718Glu)
c.6173C>A (p.Ala2058Glu)
n.336-70571C>A
c.6161C>A (p.Ala2054Glu)
c.5816C>A (p.Ala1939Glu)
c.2162C>A (p.Ala721Glu)
c.6056C>A (p.Ala2019Glu)
c.6047C>A (p.Ala2016Glu)
c.6062C>A (p.Ala2021Glu)
c.359C>A (p.Ala120Glu)
Xg.32287635C>ACA412666206DMDc.1030G>T (p.Ala344Ser)
c.6184G>T (p.Ala2062Ser)
c.2152G>T (p.Ala718Ser)
c.6172G>T (p.Ala2058Ser)
n.336-70572G>T
c.6160G>T (p.Ala2054Ser)
c.5815G>T (p.Ala1939Ser)
c.2161G>T (p.Ala721Ser)
c.6055G>T (p.Ala2019Ser)
c.6046G>T (p.Ala2016Ser)
c.6061G>T (p.Ala2021Ser)
c.358G>T (p.Ala120Ser)
Xg.32287635C>GCA412666207DMDc.1030G>C (p.Ala344Pro)
c.6184G>C (p.Ala2062Pro)
c.2152G>C (p.Ala718Pro)
c.6172G>C (p.Ala2058Pro)
n.336-70572G>C
c.6160G>C (p.Ala2054Pro)
c.5815G>C (p.Ala1939Pro)
c.2161G>C (p.Ala721Pro)
c.6055G>C (p.Ala2019Pro)
c.6046G>C (p.Ala2016Pro)
c.6061G>C (p.Ala2021Pro)
c.358G>C (p.Ala120Pro)
Xg.32287635C>TCA412666208DMDc.1030G>A (p.Ala344Thr)
c.6184G>A (p.Ala2062Thr)
c.2152G>A (p.Ala718Thr)
c.6172G>A (p.Ala2058Thr)
n.336-70572G>A
c.6160G>A (p.Ala2054Thr)
c.5815G>A (p.Ala1939Thr)
c.2161G>A (p.Ala721Thr)
c.6055G>A (p.Ala2019Thr)
c.6046G>A (p.Ala2016Thr)
c.6061G>A (p.Ala2021Thr)
c.358G>A (p.Ala120Thr)
Xg.32287636T>ACA515860786DMDc.1029A>T (p.Ala343=)
c.6183A>T (p.Ala2061=)
c.2151A>T (p.Ala717=)
c.6171A>T (p.Ala2057=)
n.336-70573A>T
c.6159A>T (p.Ala2053=)
c.5814A>T (p.Ala1938=)
c.2160A>T (p.Ala720=)
c.6054A>T (p.Ala2018=)
c.6045A>T (p.Ala2015=)
c.6060A>T (p.Ala2020=)
c.357A>T (p.Ala119=)
Xg.32287636T>CCA515860788DMDc.1029A>G (p.Ala343=)
c.6183A>G (p.Ala2061=)
c.2151A>G (p.Ala717=)
c.6171A>G (p.Ala2057=)
n.336-70573A>G
c.6159A>G (p.Ala2053=)
c.5814A>G (p.Ala1938=)
c.2160A>G (p.Ala720=)
c.6054A>G (p.Ala2018=)
c.6045A>G (p.Ala2015=)
c.6060A>G (p.Ala2020=)
c.357A>G (p.Ala119=)
 ClinVar dbSNP
Xg.32287636T>GCA515860790DMDc.1029A>C (p.Ala343=)
c.6183A>C (p.Ala2061=)
c.2151A>C (p.Ala717=)
c.6171A>C (p.Ala2057=)
n.336-70573A>C
c.6159A>C (p.Ala2053=)
c.5814A>C (p.Ala1938=)
c.2160A>C (p.Ala720=)
c.6054A>C (p.Ala2018=)
c.6045A>C (p.Ala2015=)
c.6060A>C (p.Ala2020=)
c.357A>C (p.Ala119=)
Xg.32287636dupCA2695232716DMDc.1029dup (p.Ala344SerfsTer21)
c.6183dup (p.Ala2062SerfsTer21)
c.2151dup (p.Ala718SerfsTer21)
c.6171dup (p.Ala2058SerfsTer21)
n.336-70573dup
c.6159dup (p.Ala2054SerfsTer21)
c.5814dup (p.Ala1939SerfsTer21)
c.2160dup (p.Ala721SerfsTer21)
c.6054dup (p.Ala2019SerfsTer21)
c.6045dup (p.Ala2016SerfsTer21)
c.6060dup (p.Ala2021SerfsTer21)
c.357dup (p.Ala120SerfsTer21)
Xg.32287636_32287637delinsTGCA2422736440DMDc.1028_1029delinsCA (p.Ala343=)
c.6182_6183delinsCA (p.Ala2061=)
c.2150_2151delinsCA (p.Ala717=)
c.6170_6171delinsCA (p.Ala2057=)
n.336-70574_336-70573delinsCA
c.6158_6159delinsCA (p.Ala2053=)
c.5813_5814delinsCA (p.Ala1938=)
c.2159_2160delinsCA (p.Ala720=)
c.6053_6054delinsCA (p.Ala2018=)
c.6044_6045delinsCA (p.Ala2015=)
c.6059_6060delinsCA (p.Ala2020=)
c.356_357delinsCA (p.Ala119=)
Xg.32287637delCA267100DMDc.1028del (p.Ala343GlufsTer12)
c.6182del (p.Ala2061GlufsTer12)
c.2150del (p.Ala717GlufsTer12)
c.6170del (p.Ala2057GlufsTer12)
n.336-70574del
c.6158del (p.Ala2053GlufsTer12)
c.5813del (p.Ala1938GlufsTer12)
c.2159del (p.Ala720GlufsTer12)
c.6053del (p.Ala2018GlufsTer12)
c.6044del (p.Ala2015GlufsTer12)
c.6059del (p.Ala2020GlufsTer12)
c.356del (p.Ala119GlufsTer12)
 ClinVar dbSNP
Xg.32287637G>ACA412666210DMDc.1028C>T (p.Ala343Val)
c.6182C>T (p.Ala2061Val)
c.2150C>T (p.Ala717Val)
c.6170C>T (p.Ala2057Val)
n.336-70574C>T
c.6158C>T (p.Ala2053Val)
c.5813C>T (p.Ala1938Val)
c.2159C>T (p.Ala720Val)
c.6053C>T (p.Ala2018Val)
c.6044C>T (p.Ala2015Val)
c.6059C>T (p.Ala2020Val)
c.356C>T (p.Ala119Val)
 gnomAD v4
Xg.32287637G>CCA412666213DMDc.1028C>G (p.Ala343Gly)
c.6182C>G (p.Ala2061Gly)
c.2150C>G (p.Ala717Gly)
c.6170C>G (p.Ala2057Gly)
n.336-70574C>G
c.6158C>G (p.Ala2053Gly)
c.5813C>G (p.Ala1938Gly)
c.2159C>G (p.Ala720Gly)
c.6053C>G (p.Ala2018Gly)
c.6044C>G (p.Ala2015Gly)
c.6059C>G (p.Ala2020Gly)
c.356C>G (p.Ala119Gly)
Xg.32287637G>TCA412666215DMDc.1028C>A (p.Ala343Glu)
c.6182C>A (p.Ala2061Glu)
c.2150C>A (p.Ala717Glu)
c.6170C>A (p.Ala2057Glu)
n.336-70574C>A
c.6158C>A (p.Ala2053Glu)
c.5813C>A (p.Ala1938Glu)
c.2159C>A (p.Ala720Glu)
c.6053C>A (p.Ala2018Glu)
c.6044C>A (p.Ala2015Glu)
c.6059C>A (p.Ala2020Glu)
c.356C>A (p.Ala119Glu)
 COSMIC COSMIC COSMIC COSMIC
Xg.32287638C>ACA412666220DMDc.1027G>T (p.Ala343Ser)
c.6181G>T (p.Ala2061Ser)
c.2149G>T (p.Ala717Ser)
c.6169G>T (p.Ala2057Ser)
n.336-70575G>T
c.6157G>T (p.Ala2053Ser)
c.5812G>T (p.Ala1938Ser)
c.2158G>T (p.Ala720Ser)
c.6052G>T (p.Ala2018Ser)
c.6043G>T (p.Ala2015Ser)
c.6058G>T (p.Ala2020Ser)
c.355G>T (p.Ala119Ser)
Xg.32287638C=CA2422736441DMDc.1027G= (p.Ala343=)
c.6181G= (p.Ala2061=)
c.2149G= (p.Ala717=)
c.6169G= (p.Ala2057=)
n.336-70575G=
c.6157G= (p.Ala2053=)
c.5812G= (p.Ala1938=)
c.2158G= (p.Ala720=)
c.6052G= (p.Ala2018=)
c.6043G= (p.Ala2015=)
c.6058G= (p.Ala2020=)
c.355G= (p.Ala119=)
Xg.32287638C>GCA412666221DMDc.1027G>C (p.Ala343Pro)
c.6181G>C (p.Ala2061Pro)
c.2149G>C (p.Ala717Pro)
c.6169G>C (p.Ala2057Pro)
n.336-70575G>C
c.6157G>C (p.Ala2053Pro)
c.5812G>C (p.Ala1938Pro)
c.2158G>C (p.Ala720Pro)
c.6052G>C (p.Ala2018Pro)
c.6043G>C (p.Ala2015Pro)
c.6058G>C (p.Ala2020Pro)
c.355G>C (p.Ala119Pro)
Xg.32287638C>TCA328529828DMDc.1027G>A (p.Ala343Thr)
c.6181G>A (p.Ala2061Thr)
c.2149G>A (p.Ala717Thr)
c.6169G>A (p.Ala2057Thr)
n.336-70575G>A
c.6157G>A (p.Ala2053Thr)
c.5812G>A (p.Ala1938Thr)
c.2158G>A (p.Ala720Thr)
c.6052G>A (p.Ala2018Thr)
c.6043G>A (p.Ala2015Thr)
c.6058G>A (p.Ala2020Thr)
c.355G>A (p.Ala119Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32287639T>ACA515860799DMDc.1026A>T (p.Thr342=)
c.6180A>T (p.Thr2060=)
c.2148A>T (p.Thr716=)
c.6168A>T (p.Thr2056=)
n.336-70576A>T
c.6156A>T (p.Thr2052=)
c.5811A>T (p.Thr1937=)
c.2157A>T (p.Thr719=)
c.6051A>T (p.Thr2017=)
c.6042A>T (p.Thr2014=)
c.6057A>T (p.Thr2019=)
c.354A>T (p.Thr118=)
Xg.32287639T>CCA515860801DMDc.1026A>G (p.Thr342=)
c.6180A>G (p.Thr2060=)
c.2148A>G (p.Thr716=)
c.6168A>G (p.Thr2056=)
n.336-70576A>G
c.6156A>G (p.Thr2052=)
c.5811A>G (p.Thr1937=)
c.2157A>G (p.Thr719=)
c.6051A>G (p.Thr2017=)
c.6042A>G (p.Thr2014=)
c.6057A>G (p.Thr2019=)
c.354A>G (p.Thr118=)
 dbSNP gnomAD v2 gnomAD v4
Xg.32287639T>GCA515860803DMDc.1026A>C (p.Thr342=)
c.6180A>C (p.Thr2060=)
c.2148A>C (p.Thr716=)
c.6168A>C (p.Thr2056=)
n.336-70576A>C
c.6156A>C (p.Thr2052=)
c.5811A>C (p.Thr1937=)
c.2157A>C (p.Thr719=)
c.6051A>C (p.Thr2017=)
c.6042A>C (p.Thr2014=)
c.6057A>C (p.Thr2019=)
c.354A>C (p.Thr118=)
 dbSNP gnomAD v2 gnomAD v4
Xg.32287639T=CA2422736442DMDc.1026A= (p.Thr342=)
c.6180A= (p.Thr2060=)
c.2148A= (p.Thr716=)
c.6168A= (p.Thr2056=)
n.336-70576A=
c.6156A= (p.Thr2052=)
c.5811A= (p.Thr1937=)
c.2157A= (p.Thr719=)
c.6051A= (p.Thr2017=)
c.6042A= (p.Thr2014=)
c.6057A= (p.Thr2019=)
c.354A= (p.Thr118=)
Xg.32287640G>ACA308364DMDc.1025C>T (p.Thr342Ile)
c.6179C>T (p.Thr2060Ile)
c.2147C>T (p.Thr716Ile)
c.6167C>T (p.Thr2056Ile)
n.336-70577C>T
c.6155C>T (p.Thr2052Ile)
c.5810C>T (p.Thr1937Ile)
c.2156C>T (p.Thr719Ile)
c.6050C>T (p.Thr2017Ile)
c.6041C>T (p.Thr2014Ile)
c.6056C>T (p.Thr2019Ile)
c.353C>T (p.Thr118Ile)
 ClinVar dbSNP gnomAD v4
Xg.32287640G>CCA412666227DMDc.1025C>G (p.Thr342Arg)
c.6179C>G (p.Thr2060Arg)
c.2147C>G (p.Thr716Arg)
c.6167C>G (p.Thr2056Arg)
n.336-70577C>G
c.6155C>G (p.Thr2052Arg)
c.5810C>G (p.Thr1937Arg)
c.2156C>G (p.Thr719Arg)
c.6050C>G (p.Thr2017Arg)
c.6041C>G (p.Thr2014Arg)
c.6056C>G (p.Thr2019Arg)
c.353C>G (p.Thr118Arg)
Xg.32287640G=CA2422736443DMDc.1025C= (p.Thr342=)
c.6179C= (p.Thr2060=)
c.2147C= (p.Thr716=)
c.6167C= (p.Thr2056=)
n.336-70577C=
c.6155C= (p.Thr2052=)
c.5810C= (p.Thr1937=)
c.2156C= (p.Thr719=)
c.6050C= (p.Thr2017=)
c.6041C= (p.Thr2014=)
c.6056C= (p.Thr2019=)
c.353C= (p.Thr118=)
Xg.32287640G>TCA412666241DMDc.1025C>A (p.Thr342Lys)
c.6179C>A (p.Thr2060Lys)
c.2147C>A (p.Thr716Lys)
c.6167C>A (p.Thr2056Lys)
n.336-70577C>A
c.6155C>A (p.Thr2052Lys)
c.5810C>A (p.Thr1937Lys)
c.2156C>A (p.Thr719Lys)
c.6050C>A (p.Thr2017Lys)
c.6041C>A (p.Thr2014Lys)
c.6056C>A (p.Thr2019Lys)
c.353C>A (p.Thr118Lys)
Xg.32287641T>ACA412666248DMDc.1024A>T (p.Thr342Ser)
c.6178A>T (p.Thr2060Ser)
c.2146A>T (p.Thr716Ser)
c.6166A>T (p.Thr2056Ser)
n.336-70578A>T
c.6154A>T (p.Thr2052Ser)
c.5809A>T (p.Thr1937Ser)
c.2155A>T (p.Thr719Ser)
c.6049A>T (p.Thr2017Ser)
c.6040A>T (p.Thr2014Ser)
c.6055A>T (p.Thr2019Ser)
c.352A>T (p.Thr118Ser)
Xg.32287641T>CCA412666251DMDc.1024A>G (p.Thr342Ala)
c.6178A>G (p.Thr2060Ala)
c.2146A>G (p.Thr716Ala)
c.6166A>G (p.Thr2056Ala)
n.336-70578A>G
c.6154A>G (p.Thr2052Ala)
c.5809A>G (p.Thr1937Ala)
c.2155A>G (p.Thr719Ala)
c.6049A>G (p.Thr2017Ala)
c.6040A>G (p.Thr2014Ala)
c.6055A>G (p.Thr2019Ala)
c.352A>G (p.Thr118Ala)
Xg.32287641T>GCA412666246DMDc.1024A>C (p.Thr342Pro)
c.6178A>C (p.Thr2060Pro)
c.2146A>C (p.Thr716Pro)
c.6166A>C (p.Thr2056Pro)
n.336-70578A>C
c.6154A>C (p.Thr2052Pro)
c.5809A>C (p.Thr1937Pro)
c.2155A>C (p.Thr719Pro)
c.6049A>C (p.Thr2017Pro)
c.6040A>C (p.Thr2014Pro)
c.6055A>C (p.Thr2019Pro)
c.352A>C (p.Thr118Pro)
Xg.32287642C>ACA412666252DMDc.1023G>T (p.Lys341Asn)
c.6177G>T (p.Lys2059Asn)
c.2145G>T (p.Lys715Asn)
c.6165G>T (p.Lys2055Asn)
n.336-70579G>T
c.6153G>T (p.Lys2051Asn)
c.5808G>T (p.Lys1936Asn)
c.2154G>T (p.Lys718Asn)
c.6048G>T (p.Lys2016Asn)
c.6039G>T (p.Lys2013Asn)
c.6054G>T (p.Lys2018Asn)
c.351G>T (p.Lys117Asn)
 COSMIC COSMIC COSMIC COSMIC
Xg.32287642C>GCA412666253DMDc.1023G>C (p.Lys341Asn)
c.6177G>C (p.Lys2059Asn)
c.2145G>C (p.Lys715Asn)
c.6165G>C (p.Lys2055Asn)
n.336-70579G>C
c.6153G>C (p.Lys2051Asn)
c.5808G>C (p.Lys1936Asn)
c.2154G>C (p.Lys718Asn)
c.6048G>C (p.Lys2016Asn)
c.6039G>C (p.Lys2013Asn)
c.6054G>C (p.Lys2018Asn)
c.351G>C (p.Lys117Asn)
Xg.32287642C>TCA515860810DMDc.1023G>A (p.Lys341=)
c.6177G>A (p.Lys2059=)
c.2145G>A (p.Lys715=)
c.6165G>A (p.Lys2055=)
n.336-70579G>A
c.6153G>A (p.Lys2051=)
c.5808G>A (p.Lys1936=)
c.2154G>A (p.Lys718=)
c.6048G>A (p.Lys2016=)
c.6039G>A (p.Lys2013=)
c.6054G>A (p.Lys2018=)
c.351G>A (p.Lys117=)
 gnomAD v4
Xg.32287643T>ACA412666254DMDc.1022A>T (p.Lys341Met)
c.6176A>T (p.Lys2059Met)
c.2144A>T (p.Lys715Met)
c.6164A>T (p.Lys2055Met)
n.336-70580A>T
c.6152A>T (p.Lys2051Met)
c.5807A>T (p.Lys1936Met)
c.2153A>T (p.Lys718Met)
c.6047A>T (p.Lys2016Met)
c.6038A>T (p.Lys2013Met)
c.6053A>T (p.Lys2018Met)
c.350A>T (p.Lys117Met)
Xg.32287643T>CCA412666259DMDc.1022A>G (p.Lys341Arg)
c.6176A>G (p.Lys2059Arg)
c.2144A>G (p.Lys715Arg)
c.6164A>G (p.Lys2055Arg)
n.336-70580A>G
c.6152A>G (p.Lys2051Arg)
c.5807A>G (p.Lys1936Arg)
c.2153A>G (p.Lys718Arg)
c.6047A>G (p.Lys2016Arg)
c.6038A>G (p.Lys2013Arg)
c.6053A>G (p.Lys2018Arg)
c.350A>G (p.Lys117Arg)
Xg.32287643T>GCA412666261DMDc.1022A>C (p.Lys341Thr)
c.6176A>C (p.Lys2059Thr)
c.2144A>C (p.Lys715Thr)
c.6164A>C (p.Lys2055Thr)
n.336-70580A>C
c.6152A>C (p.Lys2051Thr)
c.5807A>C (p.Lys1936Thr)
c.2153A>C (p.Lys718Thr)
c.6047A>C (p.Lys2016Thr)
c.6038A>C (p.Lys2013Thr)
c.6053A>C (p.Lys2018Thr)
c.350A>C (p.Lys117Thr)
Xg.32287644delCA2579579365DMDc.1022del (p.Lys341ArgfsTer14)
c.6176del (p.Lys2059ArgfsTer14)
c.2144del (p.Lys715ArgfsTer14)
c.6164del (p.Lys2055ArgfsTer14)
n.336-70580del
c.6152del (p.Lys2051ArgfsTer14)
c.5807del (p.Lys1936ArgfsTer14)
c.2153del (p.Lys718ArgfsTer14)
c.6047del (p.Lys2016ArgfsTer14)
c.6038del (p.Lys2013ArgfsTer14)
c.6053del (p.Lys2018ArgfsTer14)
c.350del (p.Lys117ArgfsTer14)
Xg.32287644T>ACA412666266DMDc.1021A>T (p.Lys341Ter)
c.6175A>T (p.Lys2059Ter)
c.2143A>T (p.Lys715Ter)
c.6163A>T (p.Lys2055Ter)
n.336-70581A>T
c.6151A>T (p.Lys2051Ter)
c.5806A>T (p.Lys1936Ter)
c.2152A>T (p.Lys718Ter)
c.6046A>T (p.Lys2016Ter)
c.6037A>T (p.Lys2013Ter)
c.6052A>T (p.Lys2018Ter)
c.349A>T (p.Lys117Ter)
 ClinVar dbSNP
Xg.32287644T>CCA412666268DMDc.1021A>G (p.Lys341Glu)
c.6175A>G (p.Lys2059Glu)
c.2143A>G (p.Lys715Glu)
c.6163A>G (p.Lys2055Glu)
n.336-70581A>G
c.6151A>G (p.Lys2051Glu)
c.5806A>G (p.Lys1936Glu)
c.2152A>G (p.Lys718Glu)
c.6046A>G (p.Lys2016Glu)
c.6037A>G (p.Lys2013Glu)
c.6052A>G (p.Lys2018Glu)
c.349A>G (p.Lys117Glu)
Xg.32287644T>GCA412666271DMDc.1021A>C (p.Lys341Gln)
c.6175A>C (p.Lys2059Gln)
c.2143A>C (p.Lys715Gln)
c.6163A>C (p.Lys2055Gln)
n.336-70581A>C
c.6151A>C (p.Lys2051Gln)
c.5806A>C (p.Lys1936Gln)
c.2152A>C (p.Lys718Gln)
c.6046A>C (p.Lys2016Gln)
c.6037A>C (p.Lys2013Gln)
c.6052A>C (p.Lys2018Gln)
c.349A>C (p.Lys117Gln)
Xg.32287644T=CA2422736444DMDc.1021A= (p.Lys341=)
c.6175A= (p.Lys2059=)
c.2143A= (p.Lys715=)
c.6163A= (p.Lys2055=)
n.336-70581A=
c.6151A= (p.Lys2051=)
c.5806A= (p.Lys1936=)
c.2152A= (p.Lys718=)
c.6046A= (p.Lys2016=)
c.6037A= (p.Lys2013=)
c.6052A= (p.Lys2018=)
c.349A= (p.Lys117=)
Xg.32287645C>ACA412666276DMDc.1020G>T (p.Lys340Asn)
c.6174G>T (p.Lys2058Asn)
c.2142G>T (p.Lys714Asn)
c.6162G>T (p.Lys2054Asn)
n.336-70582G>T
c.6150G>T (p.Lys2050Asn)
c.5805G>T (p.Lys1935Asn)
c.2151G>T (p.Lys717Asn)
c.6045G>T (p.Lys2015Asn)
c.6036G>T (p.Lys2012Asn)
c.6051G>T (p.Lys2017Asn)
c.348G>T (p.Lys116Asn)
Xg.32287645C>GCA412666279DMDc.1020G>C (p.Lys340Asn)
c.6174G>C (p.Lys2058Asn)
c.2142G>C (p.Lys714Asn)
c.6162G>C (p.Lys2054Asn)
n.336-70582G>C
c.6150G>C (p.Lys2050Asn)
c.5805G>C (p.Lys1935Asn)
c.2151G>C (p.Lys717Asn)
c.6045G>C (p.Lys2015Asn)
c.6036G>C (p.Lys2012Asn)
c.6051G>C (p.Lys2017Asn)
c.348G>C (p.Lys116Asn)
Xg.32287645C>TCA515860819DMDc.1020G>A (p.Lys340=)
c.6174G>A (p.Lys2058=)
c.2142G>A (p.Lys714=)
c.6162G>A (p.Lys2054=)
n.336-70582G>A
c.6150G>A (p.Lys2050=)
c.5805G>A (p.Lys1935=)
c.2151G>A (p.Lys717=)
c.6045G>A (p.Lys2015=)
c.6036G>A (p.Lys2012=)
c.6051G>A (p.Lys2017=)
c.348G>A (p.Lys116=)
 ClinVar dbSNP
Xg.32287646T>ACA412666280DMDc.1019A>T (p.Lys340Met)
c.6173A>T (p.Lys2058Met)
c.2141A>T (p.Lys714Met)
c.6161A>T (p.Lys2054Met)
n.336-70583A>T
c.6149A>T (p.Lys2050Met)
c.5804A>T (p.Lys1935Met)
c.2150A>T (p.Lys717Met)
c.6044A>T (p.Lys2015Met)
c.6035A>T (p.Lys2012Met)
c.6050A>T (p.Lys2017Met)
c.347A>T (p.Lys116Met)
Xg.32287646T>CCA412666281DMDc.1019A>G (p.Lys340Arg)
c.6173A>G (p.Lys2058Arg)
c.2141A>G (p.Lys714Arg)
c.6161A>G (p.Lys2054Arg)
n.336-70583A>G
c.6149A>G (p.Lys2050Arg)
c.5804A>G (p.Lys1935Arg)
c.2150A>G (p.Lys717Arg)
c.6044A>G (p.Lys2015Arg)
c.6035A>G (p.Lys2012Arg)
c.6050A>G (p.Lys2017Arg)
c.347A>G (p.Lys116Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32287646T>GCA412666284DMDc.1019A>C (p.Lys340Thr)
c.6173A>C (p.Lys2058Thr)
c.2141A>C (p.Lys714Thr)
c.6161A>C (p.Lys2054Thr)
n.336-70583A>C
c.6149A>C (p.Lys2050Thr)
c.5804A>C (p.Lys1935Thr)
c.2150A>C (p.Lys717Thr)
c.6044A>C (p.Lys2015Thr)
c.6035A>C (p.Lys2012Thr)
c.6050A>C (p.Lys2017Thr)
c.347A>C (p.Lys116Thr)
Xg.32287646T=CA2422736445DMDc.1019A= (p.Lys340=)
c.6173A= (p.Lys2058=)
c.2141A= (p.Lys714=)
c.6161A= (p.Lys2054=)
n.336-70583A=
c.6149A= (p.Lys2050=)
c.5804A= (p.Lys1935=)
c.2150A= (p.Lys717=)
c.6044A= (p.Lys2015=)
c.6035A= (p.Lys2012=)
c.6050A= (p.Lys2017=)
c.347A= (p.Lys116=)
Xg.32287647T>ACA412666287DMDc.1018A>T (p.Lys340Ter)
c.6172A>T (p.Lys2058Ter)
c.2140A>T (p.Lys714Ter)
c.6160A>T (p.Lys2054Ter)
n.336-70584A>T
c.6148A>T (p.Lys2050Ter)
c.5803A>T (p.Lys1935Ter)
c.2149A>T (p.Lys717Ter)
c.6043A>T (p.Lys2015Ter)
c.6034A>T (p.Lys2012Ter)
c.6049A>T (p.Lys2017Ter)
c.346A>T (p.Lys116Ter)
Xg.32287647T>CCA412666292DMDc.1018A>G (p.Lys340Glu)
c.6172A>G (p.Lys2058Glu)
c.2140A>G (p.Lys714Glu)
c.6160A>G (p.Lys2054Glu)
n.336-70584A>G
c.6148A>G (p.Lys2050Glu)
c.5803A>G (p.Lys1935Glu)
c.2149A>G (p.Lys717Glu)
c.6043A>G (p.Lys2015Glu)
c.6034A>G (p.Lys2012Glu)
c.6049A>G (p.Lys2017Glu)
c.346A>G (p.Lys116Glu)
Xg.32287647T>GCA412666290DMDc.1018A>C (p.Lys340Gln)
c.6172A>C (p.Lys2058Gln)
c.2140A>C (p.Lys714Gln)
c.6160A>C (p.Lys2054Gln)
n.336-70584A>C
c.6148A>C (p.Lys2050Gln)
c.5803A>C (p.Lys1935Gln)
c.2149A>C (p.Lys717Gln)
c.6043A>C (p.Lys2015Gln)
c.6034A>C (p.Lys2012Gln)
c.6049A>C (p.Lys2017Gln)
c.346A>C (p.Lys116Gln)
Xg.32287648delCA2580100631DMDc.1017del (p.Ser339ArgfsTer16)
c.6171del (p.Ser2057ArgfsTer16)
c.2139del (p.Ser713ArgfsTer16)
c.6159del (p.Ser2053ArgfsTer16)
n.336-70585del
c.6147del (p.Ser2049ArgfsTer16)
c.5802del (p.Ser1934ArgfsTer16)
c.2148del (p.Ser716ArgfsTer16)
c.6042del (p.Ser2014ArgfsTer16)
c.6033del (p.Ser2011ArgfsTer16)
c.6048del (p.Ser2016ArgfsTer16)
c.345del (p.Ser115ArgfsTer16)
 ClinVar
Xg.32287648G>ACA515860826DMDc.1017C>T (p.Ser339=)
c.6171C>T (p.Ser2057=)
c.2139C>T (p.Ser713=)
c.6159C>T (p.Ser2053=)
n.336-70585C>T
c.6147C>T (p.Ser2049=)
c.5802C>T (p.Ser1934=)
c.2148C>T (p.Ser716=)
c.6042C>T (p.Ser2014=)
c.6033C>T (p.Ser2011=)
c.6048C>T (p.Ser2016=)
c.345C>T (p.Ser115=)
Xg.32287648G>CCA412666295DMDc.1017C>G (p.Ser339Arg)
c.6171C>G (p.Ser2057Arg)
c.2139C>G (p.Ser713Arg)
c.6159C>G (p.Ser2053Arg)
n.336-70585C>G
c.6147C>G (p.Ser2049Arg)
c.5802C>G (p.Ser1934Arg)
c.2148C>G (p.Ser716Arg)
c.6042C>G (p.Ser2014Arg)
c.6033C>G (p.Ser2011Arg)
c.6048C>G (p.Ser2016Arg)
c.345C>G (p.Ser115Arg)
Xg.32287648G>TCA412666302DMDc.1017C>A (p.Ser339Arg)
c.6171C>A (p.Ser2057Arg)
c.2139C>A (p.Ser713Arg)
c.6159C>A (p.Ser2053Arg)
n.336-70585C>A
c.6147C>A (p.Ser2049Arg)
c.5802C>A (p.Ser1934Arg)
c.2148C>A (p.Ser716Arg)
c.6042C>A (p.Ser2014Arg)
c.6033C>A (p.Ser2011Arg)
c.6048C>A (p.Ser2016Arg)
c.345C>A (p.Ser115Arg)
 gnomAD v4
Xg.32287649C>ACA412666305DMDc.1016G>T (p.Ser339Ile)
c.6170G>T (p.Ser2057Ile)
c.2138G>T (p.Ser713Ile)
c.6158G>T (p.Ser2053Ile)
n.336-70586G>T
c.6146G>T (p.Ser2049Ile)
c.5801G>T (p.Ser1934Ile)
c.2147G>T (p.Ser716Ile)
c.6041G>T (p.Ser2014Ile)
c.6032G>T (p.Ser2011Ile)
c.6047G>T (p.Ser2016Ile)
c.344G>T (p.Ser115Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32287649C=CA2422736446DMDc.1016G= (p.Ser339=)
c.6170G= (p.Ser2057=)
c.2138G= (p.Ser713=)
c.6158G= (p.Ser2053=)
n.336-70586G=
c.6146G= (p.Ser2049=)
c.5801G= (p.Ser1934=)
c.2147G= (p.Ser716=)
c.6041G= (p.Ser2014=)
c.6032G= (p.Ser2011=)
c.6047G= (p.Ser2016=)
c.344G= (p.Ser115=)
Xg.32287649C>GCA412666309DMDc.1016G>C (p.Ser339Thr)
c.6170G>C (p.Ser2057Thr)
c.2138G>C (p.Ser713Thr)
c.6158G>C (p.Ser2053Thr)
n.336-70586G>C
c.6146G>C (p.Ser2049Thr)
c.5801G>C (p.Ser1934Thr)
c.2147G>C (p.Ser716Thr)
c.6041G>C (p.Ser2014Thr)
c.6032G>C (p.Ser2011Thr)
c.6047G>C (p.Ser2016Thr)
c.344G>C (p.Ser115Thr)
Xg.32287649C>TCA412666312DMDc.1016G>A (p.Ser339Asn)
c.6170G>A (p.Ser2057Asn)
c.2138G>A (p.Ser713Asn)
c.6158G>A (p.Ser2053Asn)
n.336-70586G>A
c.6146G>A (p.Ser2049Asn)
c.5801G>A (p.Ser1934Asn)
c.2147G>A (p.Ser716Asn)
c.6041G>A (p.Ser2014Asn)
c.6032G>A (p.Ser2011Asn)
c.6047G>A (p.Ser2016Asn)
c.344G>A (p.Ser115Asn)
Xg.32287650T>ACA412666315DMDc.1015A>T (p.Ser339Cys)
c.6169A>T (p.Ser2057Cys)
c.2137A>T (p.Ser713Cys)
c.6157A>T (p.Ser2053Cys)
n.336-70587A>T
c.6145A>T (p.Ser2049Cys)
c.5800A>T (p.Ser1934Cys)
c.2146A>T (p.Ser716Cys)
c.6040A>T (p.Ser2014Cys)
c.6031A>T (p.Ser2011Cys)
c.6046A>T (p.Ser2016Cys)
c.343A>T (p.Ser115Cys)
Xg.32287650T>CCA412666318DMDc.1015A>G (p.Ser339Gly)
c.6169A>G (p.Ser2057Gly)
c.2137A>G (p.Ser713Gly)
c.6157A>G (p.Ser2053Gly)
n.336-70587A>G
c.6145A>G (p.Ser2049Gly)
c.5800A>G (p.Ser1934Gly)
c.2146A>G (p.Ser716Gly)
c.6040A>G (p.Ser2014Gly)
c.6031A>G (p.Ser2011Gly)
c.6046A>G (p.Ser2016Gly)
c.343A>G (p.Ser115Gly)
Xg.32287650T>GCA412666321DMDc.1015A>C (p.Ser339Arg)
c.6169A>C (p.Ser2057Arg)
c.2137A>C (p.Ser713Arg)
c.6157A>C (p.Ser2053Arg)
n.336-70587A>C
c.6145A>C (p.Ser2049Arg)
c.5800A>C (p.Ser1934Arg)
c.2146A>C (p.Ser716Arg)
c.6040A>C (p.Ser2014Arg)
c.6031A>C (p.Ser2011Arg)
c.6046A>C (p.Ser2016Arg)
c.343A>C (p.Ser115Arg)
Xg.32287651A=CA2422736447DMDc.1014T= (p.His338=)
c.6168T= (p.His2056=)
c.2136T= (p.His712=)
c.6156T= (p.His2052=)
n.336-70588T=
c.6144T= (p.His2048=)
c.5799T= (p.His1933=)
c.2145T= (p.His715=)
c.6039T= (p.His2013=)
c.6030T= (p.His2010=)
c.6045T= (p.His2015=)
c.342T= (p.His114=)
Xg.32287651A>CCA412666325DMDc.1014T>G (p.His338Gln)
c.6168T>G (p.His2056Gln)
c.2136T>G (p.His712Gln)
c.6156T>G (p.His2052Gln)
n.336-70588T>G
c.6144T>G (p.His2048Gln)
c.5799T>G (p.His1933Gln)
c.2145T>G (p.His715Gln)
c.6039T>G (p.His2013Gln)
c.6030T>G (p.His2010Gln)
c.6045T>G (p.His2015Gln)
c.342T>G (p.His114Gln)
Xg.32287651A>GCA10378516DMDc.1014T>C (p.His338=)
c.6168T>C (p.His2056=)
c.2136T>C (p.His712=)
c.6156T>C (p.His2052=)
n.336-70588T>C
c.6144T>C (p.His2048=)
c.5799T>C (p.His1933=)
c.2145T>C (p.His715=)
c.6039T>C (p.His2013=)
c.6030T>C (p.His2010=)
c.6045T>C (p.His2015=)
c.342T>C (p.His114=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287651A>TCA412666332DMDc.1014T>A (p.His338Gln)
c.6168T>A (p.His2056Gln)
c.2136T>A (p.His712Gln)
c.6156T>A (p.His2052Gln)
n.336-70588T>A
c.6144T>A (p.His2048Gln)
c.5799T>A (p.His1933Gln)
c.2145T>A (p.His715Gln)
c.6039T>A (p.His2013Gln)
c.6030T>A (p.His2010Gln)
c.6045T>A (p.His2015Gln)
c.342T>A (p.His114Gln)
Xg.32287652T>ACA412666338DMDc.1013A>T (p.His338Leu)
c.6167A>T (p.His2056Leu)
c.2135A>T (p.His712Leu)
c.6155A>T (p.His2052Leu)
n.336-70589A>T
c.6143A>T (p.His2048Leu)
c.5798A>T (p.His1933Leu)
c.2144A>T (p.His715Leu)
c.6038A>T (p.His2013Leu)
c.6029A>T (p.His2010Leu)
c.6044A>T (p.His2015Leu)
c.341A>T (p.His114Leu)
Xg.32287652T>CCA412666336DMDc.1013A>G (p.His338Arg)
c.6167A>G (p.His2056Arg)
c.2135A>G (p.His712Arg)
c.6155A>G (p.His2052Arg)
n.336-70589A>G
c.6143A>G (p.His2048Arg)
c.5798A>G (p.His1933Arg)
c.2144A>G (p.His715Arg)
c.6038A>G (p.His2013Arg)
c.6029A>G (p.His2010Arg)
c.6044A>G (p.His2015Arg)
c.341A>G (p.His114Arg)
Xg.32287652T>GCA412666335DMDc.1013A>C (p.His338Pro)
c.6167A>C (p.His2056Pro)
c.2135A>C (p.His712Pro)
c.6155A>C (p.His2052Pro)
n.336-70589A>C
c.6143A>C (p.His2048Pro)
c.5798A>C (p.His1933Pro)
c.2144A>C (p.His715Pro)
c.6038A>C (p.His2013Pro)
c.6029A>C (p.His2010Pro)
c.6044A>C (p.His2015Pro)
c.341A>C (p.His114Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32287652T=CA2422736448DMDc.1013A= (p.His338=)
c.6167A= (p.His2056=)
c.2135A= (p.His712=)
c.6155A= (p.His2052=)
n.336-70589A=
c.6143A= (p.His2048=)
c.5798A= (p.His1933=)
c.2144A= (p.His715=)
c.6038A= (p.His2013=)
c.6029A= (p.His2010=)
c.6044A= (p.His2015=)
c.341A= (p.His114=)
Xg.32287653G>ACA412666343DMDc.1012C>T (p.His338Tyr)
c.6166C>T (p.His2056Tyr)
c.2134C>T (p.His712Tyr)
c.6154C>T (p.His2052Tyr)
n.336-70590C>T
c.6142C>T (p.His2048Tyr)
c.5797C>T (p.His1933Tyr)
c.2143C>T (p.His715Tyr)
c.6037C>T (p.His2013Tyr)
c.6028C>T (p.His2010Tyr)
c.6043C>T (p.His2015Tyr)
c.340C>T (p.His114Tyr)
Xg.32287653G>CCA412666341DMDc.1012C>G (p.His338Asp)
c.6166C>G (p.His2056Asp)
c.2134C>G (p.His712Asp)
c.6154C>G (p.His2052Asp)
n.336-70590C>G
c.6142C>G (p.His2048Asp)
c.5797C>G (p.His1933Asp)
c.2143C>G (p.His715Asp)
c.6037C>G (p.His2013Asp)
c.6028C>G (p.His2010Asp)
c.6043C>G (p.His2015Asp)
c.340C>G (p.His114Asp)
Xg.32287653G>TCA412666344DMDc.1012C>A (p.His338Asn)
c.6166C>A (p.His2056Asn)
c.2134C>A (p.His712Asn)
c.6154C>A (p.His2052Asn)
n.336-70590C>A
c.6142C>A (p.His2048Asn)
c.5797C>A (p.His1933Asn)
c.2143C>A (p.His715Asn)
c.6037C>A (p.His2013Asn)
c.6028C>A (p.His2010Asn)
c.6043C>A (p.His2015Asn)
c.340C>A (p.His114Asn)
Xg.32287654A>CCA412666347DMDc.1011T>G (p.Ile337Met)
c.6165T>G (p.Ile2055Met)
c.2133T>G (p.Ile711Met)
c.6153T>G (p.Ile2051Met)
n.336-70591T>G
c.6141T>G (p.Ile2047Met)
c.5796T>G (p.Ile1932Met)
c.2142T>G (p.Ile714Met)
c.6036T>G (p.Ile2012Met)
c.6027T>G (p.Ile2009Met)
c.6042T>G (p.Ile2014Met)
c.339T>G (p.Ile113Met)
Xg.32287654A>GCA515860840DMDc.1011T>C (p.Ile337=)
c.6165T>C (p.Ile2055=)
c.2133T>C (p.Ile711=)
c.6153T>C (p.Ile2051=)
n.336-70591T>C
c.6141T>C (p.Ile2047=)
c.5796T>C (p.Ile1932=)
c.2142T>C (p.Ile714=)
c.6036T>C (p.Ile2012=)
c.6027T>C (p.Ile2009=)
c.6042T>C (p.Ile2014=)
c.339T>C (p.Ile113=)
 ClinVar dbSNP gnomAD v4
Xg.32287654A>TCA515860839DMDc.1011T>A (p.Ile337=)
c.6165T>A (p.Ile2055=)
c.2133T>A (p.Ile711=)
c.6153T>A (p.Ile2051=)
n.336-70591T>A
c.6141T>A (p.Ile2047=)
c.5796T>A (p.Ile1932=)
c.2142T>A (p.Ile714=)
c.6036T>A (p.Ile2012=)
c.6027T>A (p.Ile2009=)
c.6042T>A (p.Ile2014=)
c.339T>A (p.Ile113=)
Xg.32287655A=CA2422736449DMDc.1010T= (p.Ile337=)
c.6164T= (p.Ile2055=)
c.2132T= (p.Ile711=)
c.6152T= (p.Ile2051=)
n.336-70592T=
c.6140T= (p.Ile2047=)
c.5795T= (p.Ile1932=)
c.2141T= (p.Ile714=)
c.6035T= (p.Ile2012=)
c.6026T= (p.Ile2009=)
c.6041T= (p.Ile2014=)
c.338T= (p.Ile113=)
Xg.32287655A>CCA412666351DMDc.1010T>G (p.Ile337Ser)
c.6164T>G (p.Ile2055Ser)
c.2132T>G (p.Ile711Ser)
c.6152T>G (p.Ile2051Ser)
n.336-70592T>G
c.6140T>G (p.Ile2047Ser)
c.5795T>G (p.Ile1932Ser)
c.2141T>G (p.Ile714Ser)
c.6035T>G (p.Ile2012Ser)
c.6026T>G (p.Ile2009Ser)
c.6041T>G (p.Ile2014Ser)
c.338T>G (p.Ile113Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.32287655A>GCA412666354DMDc.1010T>C (p.Ile337Thr)
c.6164T>C (p.Ile2055Thr)
c.2132T>C (p.Ile711Thr)
c.6152T>C (p.Ile2051Thr)
n.336-70592T>C
c.6140T>C (p.Ile2047Thr)
c.5795T>C (p.Ile1932Thr)
c.2141T>C (p.Ile714Thr)
c.6035T>C (p.Ile2012Thr)
c.6026T>C (p.Ile2009Thr)
c.6041T>C (p.Ile2014Thr)
c.338T>C (p.Ile113Thr)
 gnomAD v4
Xg.32287655A>TCA412666358DMDc.1010T>A (p.Ile337Asn)
c.6164T>A (p.Ile2055Asn)
c.2132T>A (p.Ile711Asn)
c.6152T>A (p.Ile2051Asn)
n.336-70592T>A
c.6140T>A (p.Ile2047Asn)
c.5795T>A (p.Ile1932Asn)
c.2141T>A (p.Ile714Asn)
c.6035T>A (p.Ile2012Asn)
c.6026T>A (p.Ile2009Asn)
c.6041T>A (p.Ile2014Asn)
c.338T>A (p.Ile113Asn)
Xg.32287656T>ACA10378517DMDc.1009A>T (p.Ile337Phe)
c.6163A>T (p.Ile2055Phe)
c.2131A>T (p.Ile711Phe)
c.6151A>T (p.Ile2051Phe)
n.336-70593A>T
c.6139A>T (p.Ile2047Phe)
c.5794A>T (p.Ile1932Phe)
c.2140A>T (p.Ile714Phe)
c.6034A>T (p.Ile2012Phe)
c.6025A>T (p.Ile2009Phe)
c.6040A>T (p.Ile2014Phe)
c.337A>T (p.Ile113Phe)
 dbSNP ExAC
Xg.32287656T>CCA412666366DMDc.1009A>G (p.Ile337Val)
c.6163A>G (p.Ile2055Val)
c.2131A>G (p.Ile711Val)
c.6151A>G (p.Ile2051Val)
n.336-70593A>G
c.6139A>G (p.Ile2047Val)
c.5794A>G (p.Ile1932Val)
c.2140A>G (p.Ile714Val)
c.6034A>G (p.Ile2012Val)
c.6025A>G (p.Ile2009Val)
c.6040A>G (p.Ile2014Val)
c.337A>G (p.Ile113Val)
Xg.32287656T>GCA412666369DMDc.1009A>C (p.Ile337Leu)
c.6163A>C (p.Ile2055Leu)
c.2131A>C (p.Ile711Leu)
c.6151A>C (p.Ile2051Leu)
n.336-70593A>C
c.6139A>C (p.Ile2047Leu)
c.5794A>C (p.Ile1932Leu)
c.2140A>C (p.Ile714Leu)
c.6034A>C (p.Ile2012Leu)
c.6025A>C (p.Ile2009Leu)
c.6040A>C (p.Ile2014Leu)
c.337A>C (p.Ile113Leu)
Xg.32287656T=CA2422736450DMDc.1009A= (p.Ile337=)
c.6163A= (p.Ile2055=)
c.2131A= (p.Ile711=)
c.6151A= (p.Ile2051=)
n.336-70593A=
c.6139A= (p.Ile2047=)
c.5794A= (p.Ile1932=)
c.2140A= (p.Ile714=)
c.6034A= (p.Ile2012=)
c.6025A= (p.Ile2009=)
c.6040A= (p.Ile2014=)
c.337A= (p.Ile113=)
Xg.32287657A>CCA412666372DMDc.1008T>G (p.Ile336Met)
c.6162T>G (p.Ile2054Met)
c.2130T>G (p.Ile710Met)
c.6150T>G (p.Ile2050Met)
n.336-70594T>G
c.6138T>G (p.Ile2046Met)
c.5793T>G (p.Ile1931Met)
c.2139T>G (p.Ile713Met)
c.6033T>G (p.Ile2011Met)
c.6024T>G (p.Ile2008Met)
c.6039T>G (p.Ile2013Met)
c.336T>G (p.Ile112Met)
Xg.32287657A>GCA515860847DMDc.1008T>C (p.Ile336=)
c.6162T>C (p.Ile2054=)
c.2130T>C (p.Ile710=)
c.6150T>C (p.Ile2050=)
n.336-70594T>C
c.6138T>C (p.Ile2046=)
c.5793T>C (p.Ile1931=)
c.2139T>C (p.Ile713=)
c.6033T>C (p.Ile2011=)
c.6024T>C (p.Ile2008=)
c.6039T>C (p.Ile2013=)
c.336T>C (p.Ile112=)
 ClinVar dbSNP
Xg.32287657A>TCA515860849DMDc.1008T>A (p.Ile336=)
c.6162T>A (p.Ile2054=)
c.2130T>A (p.Ile710=)
c.6150T>A (p.Ile2050=)
n.336-70594T>A
c.6138T>A (p.Ile2046=)
c.5793T>A (p.Ile1931=)
c.2139T>A (p.Ile713=)
c.6033T>A (p.Ile2011=)
c.6024T>A (p.Ile2008=)
c.6039T>A (p.Ile2013=)
c.336T>A (p.Ile112=)
Xg.32287658A>CCA412666376DMDc.1007T>G (p.Ile336Ser)
c.6161T>G (p.Ile2054Ser)
c.2129T>G (p.Ile710Ser)
c.6149T>G (p.Ile2050Ser)
n.336-70595T>G
c.6137T>G (p.Ile2046Ser)
c.5792T>G (p.Ile1931Ser)
c.2138T>G (p.Ile713Ser)
c.6032T>G (p.Ile2011Ser)
c.6023T>G (p.Ile2008Ser)
c.6038T>G (p.Ile2013Ser)
c.335T>G (p.Ile112Ser)
Xg.32287658A>GCA412666380DMDc.1007T>C (p.Ile336Thr)
c.6161T>C (p.Ile2054Thr)
c.2129T>C (p.Ile710Thr)
c.6149T>C (p.Ile2050Thr)
n.336-70595T>C
c.6137T>C (p.Ile2046Thr)
c.5792T>C (p.Ile1931Thr)
c.2138T>C (p.Ile713Thr)
c.6032T>C (p.Ile2011Thr)
c.6023T>C (p.Ile2008Thr)
c.6038T>C (p.Ile2013Thr)
c.335T>C (p.Ile112Thr)
Xg.32287658A>TCA412666383DMDc.1007T>A (p.Ile336Asn)
c.6161T>A (p.Ile2054Asn)
c.2129T>A (p.Ile710Asn)
c.6149T>A (p.Ile2050Asn)
n.336-70595T>A
c.6137T>A (p.Ile2046Asn)
c.5792T>A (p.Ile1931Asn)
c.2138T>A (p.Ile713Asn)
c.6032T>A (p.Ile2011Asn)
c.6023T>A (p.Ile2008Asn)
c.6038T>A (p.Ile2013Asn)
c.335T>A (p.Ile112Asn)
Xg.32287659T>ACA412666393DMDc.1006A>T (p.Ile336Phe)
c.6160A>T (p.Ile2054Phe)
c.2128A>T (p.Ile710Phe)
c.6148A>T (p.Ile2050Phe)
n.336-70596A>T
c.6136A>T (p.Ile2046Phe)
c.5791A>T (p.Ile1931Phe)
c.2137A>T (p.Ile713Phe)
c.6031A>T (p.Ile2011Phe)
c.6022A>T (p.Ile2008Phe)
c.6037A>T (p.Ile2013Phe)
c.334A>T (p.Ile112Phe)
Xg.32287659T>CCA412666390DMDc.1006A>G (p.Ile336Val)
c.6160A>G (p.Ile2054Val)
c.2128A>G (p.Ile710Val)
c.6148A>G (p.Ile2050Val)
n.336-70596A>G
c.6136A>G (p.Ile2046Val)
c.5791A>G (p.Ile1931Val)
c.2137A>G (p.Ile713Val)
c.6031A>G (p.Ile2011Val)
c.6022A>G (p.Ile2008Val)
c.6037A>G (p.Ile2013Val)
c.334A>G (p.Ile112Val)
 dbSNP gnomAD v4
Xg.32287659T>GCA412666386DMDc.1006A>C (p.Ile336Leu)
c.6160A>C (p.Ile2054Leu)
c.2128A>C (p.Ile710Leu)
c.6148A>C (p.Ile2050Leu)
n.336-70596A>C
c.6136A>C (p.Ile2046Leu)
c.5791A>C (p.Ile1931Leu)
c.2137A>C (p.Ile713Leu)
c.6031A>C (p.Ile2011Leu)
c.6022A>C (p.Ile2008Leu)
c.6037A>C (p.Ile2013Leu)
c.334A>C (p.Ile112Leu)
Xg.32287659T=CA2422736451DMDc.1006A= (p.Ile336=)
c.6160A= (p.Ile2054=)
c.2128A= (p.Ile710=)
c.6148A= (p.Ile2050=)
n.336-70596A=
c.6136A= (p.Ile2046=)
c.5791A= (p.Ile1931=)
c.2137A= (p.Ile713=)
c.6031A= (p.Ile2011=)
c.6022A= (p.Ile2008=)
c.6037A= (p.Ile2013=)
c.334A= (p.Ile112=)
Xg.32287660G>ACA515860856DMDc.1005C>T (p.Asp335=)
c.6159C>T (p.Asp2053=)
c.2127C>T (p.Asp709=)
c.6147C>T (p.Asp2049=)
n.336-70597C>T
c.6135C>T (p.Asp2045=)
c.5790C>T (p.Asp1930=)
c.2136C>T (p.Asp712=)
c.6030C>T (p.Asp2010=)
c.6021C>T (p.Asp2007=)
c.6036C>T (p.Asp2012=)
c.333C>T (p.Asp111=)
 ClinVar dbSNP
Xg.32287660G>CCA412666396DMDc.1005C>G (p.Asp335Glu)
c.6159C>G (p.Asp2053Glu)
c.2127C>G (p.Asp709Glu)
c.6147C>G (p.Asp2049Glu)
n.336-70597C>G
c.6135C>G (p.Asp2045Glu)
c.5790C>G (p.Asp1930Glu)
c.2136C>G (p.Asp712Glu)
c.6030C>G (p.Asp2010Glu)
c.6021C>G (p.Asp2007Glu)
c.6036C>G (p.Asp2012Glu)
c.333C>G (p.Asp111Glu)
Xg.32287660G=CA2422736452DMDc.1005C= (p.Asp335=)
c.6159C= (p.Asp2053=)
c.2127C= (p.Asp709=)
c.6147C= (p.Asp2049=)
n.336-70597C=
c.6135C= (p.Asp2045=)
c.5790C= (p.Asp1930=)
c.2136C= (p.Asp712=)
c.6030C= (p.Asp2010=)
c.6021C= (p.Asp2007=)
c.6036C= (p.Asp2012=)
c.333C= (p.Asp111=)
Xg.32287660G>TCA412666399DMDc.1005C>A (p.Asp335Glu)
c.6159C>A (p.Asp2053Glu)
c.2127C>A (p.Asp709Glu)
c.6147C>A (p.Asp2049Glu)
n.336-70597C>A
c.6135C>A (p.Asp2045Glu)
c.5790C>A (p.Asp1930Glu)
c.2136C>A (p.Asp712Glu)
c.6030C>A (p.Asp2010Glu)
c.6021C>A (p.Asp2007Glu)
c.6036C>A (p.Asp2012Glu)
c.333C>A (p.Asp111Glu)
Xg.32287661T>ACA412666402DMDc.1004A>T (p.Asp335Val)
c.6158A>T (p.Asp2053Val)
c.2126A>T (p.Asp709Val)
c.6146A>T (p.Asp2049Val)
n.336-70598A>T
c.6134A>T (p.Asp2045Val)
c.5789A>T (p.Asp1930Val)
c.2135A>T (p.Asp712Val)
c.6029A>T (p.Asp2010Val)
c.6020A>T (p.Asp2007Val)
c.6035A>T (p.Asp2012Val)
c.332A>T (p.Asp111Val)
Xg.32287661T>CCA10378518DMDc.1004A>G (p.Asp335Gly)
c.6158A>G (p.Asp2053Gly)
c.2126A>G (p.Asp709Gly)
c.6146A>G (p.Asp2049Gly)
n.336-70598A>G
c.6134A>G (p.Asp2045Gly)
c.5789A>G (p.Asp1930Gly)
c.2135A>G (p.Asp712Gly)
c.6029A>G (p.Asp2010Gly)
c.6020A>G (p.Asp2007Gly)
c.6035A>G (p.Asp2012Gly)
c.332A>G (p.Asp111Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32287661T>GCA412666405DMDc.1004A>C (p.Asp335Ala)
c.6158A>C (p.Asp2053Ala)
c.2126A>C (p.Asp709Ala)
c.6146A>C (p.Asp2049Ala)
n.336-70598A>C
c.6134A>C (p.Asp2045Ala)
c.5789A>C (p.Asp1930Ala)
c.2135A>C (p.Asp712Ala)
c.6029A>C (p.Asp2010Ala)
c.6020A>C (p.Asp2007Ala)
c.6035A>C (p.Asp2012Ala)
c.332A>C (p.Asp111Ala)
Xg.32287661T=CA2422736453DMDc.1004A= (p.Asp335=)
c.6158A= (p.Asp2053=)
c.2126A= (p.Asp709=)
c.6146A= (p.Asp2049=)
n.336-70598A=
c.6134A= (p.Asp2045=)
c.5789A= (p.Asp1930=)
c.2135A= (p.Asp712=)
c.6029A= (p.Asp2010=)
c.6020A= (p.Asp2007=)
c.6035A= (p.Asp2012=)
c.332A= (p.Asp111=)
Xg.32287662C>ACA412666408DMDc.1003G>T (p.Asp335Tyr)
c.6157G>T (p.Asp2053Tyr)
c.2125G>T (p.Asp709Tyr)
c.6145G>T (p.Asp2049Tyr)
n.336-70599G>T
c.6133G>T (p.Asp2045Tyr)
c.5788G>T (p.Asp1930Tyr)
c.2134G>T (p.Asp712Tyr)
c.6028G>T (p.Asp2010Tyr)
c.6019G>T (p.Asp2007Tyr)
c.6034G>T (p.Asp2012Tyr)
c.331G>T (p.Asp111Tyr)
Xg.32287662C>GCA412666411DMDc.1003G>C (p.Asp335His)
c.6157G>C (p.Asp2053His)
c.2125G>C (p.Asp709His)
c.6145G>C (p.Asp2049His)
n.336-70599G>C
c.6133G>C (p.Asp2045His)
c.5788G>C (p.Asp1930His)
c.2134G>C (p.Asp712His)
c.6028G>C (p.Asp2010His)
c.6019G>C (p.Asp2007His)
c.6034G>C (p.Asp2012His)
c.331G>C (p.Asp111His)
Xg.32287662C>TCA412666413DMDc.1003G>A (p.Asp335Asn)
c.6157G>A (p.Asp2053Asn)
c.2125G>A (p.Asp709Asn)
c.6145G>A (p.Asp2049Asn)
n.336-70599G>A
c.6133G>A (p.Asp2045Asn)
c.5788G>A (p.Asp1930Asn)
c.2134G>A (p.Asp712Asn)
c.6028G>A (p.Asp2010Asn)
c.6019G>A (p.Asp2007Asn)
c.6034G>A (p.Asp2012Asn)
c.331G>A (p.Asp111Asn)
Xg.32287663A>CCA412666417DMDc.1002T>G (p.Ile334Met)
c.6156T>G (p.Ile2052Met)
c.2124T>G (p.Ile708Met)
c.6144T>G (p.Ile2048Met)
n.336-70600T>G
c.6132T>G (p.Ile2044Met)
c.5787T>G (p.Ile1929Met)
c.2133T>G (p.Ile711Met)
c.6027T>G (p.Ile2009Met)
c.6018T>G (p.Ile2006Met)
c.6033T>G (p.Ile2011Met)
c.330T>G (p.Ile110Met)
Xg.32287663A>GCA515860864DMDc.1002T>C (p.Ile334=)
c.6156T>C (p.Ile2052=)
c.2124T>C (p.Ile708=)
c.6144T>C (p.Ile2048=)
n.336-70600T>C
c.6132T>C (p.Ile2044=)
c.5787T>C (p.Ile1929=)
c.2133T>C (p.Ile711=)
c.6027T>C (p.Ile2009=)
c.6018T>C (p.Ile2006=)
c.6033T>C (p.Ile2011=)
c.330T>C (p.Ile110=)
Xg.32287663A>TCA515860866DMDc.1002T>A (p.Ile334=)
c.6156T>A (p.Ile2052=)
c.2124T>A (p.Ile708=)
c.6144T>A (p.Ile2048=)
n.336-70600T>A
c.6132T>A (p.Ile2044=)
c.5787T>A (p.Ile1929=)
c.2133T>A (p.Ile711=)
c.6027T>A (p.Ile2009=)
c.6018T>A (p.Ile2006=)
c.6033T>A (p.Ile2011=)
c.330T>A (p.Ile110=)
Xg.32287664A=CA2422736454DMDc.1001T= (p.Ile334=)
c.6155T= (p.Ile2052=)
c.2123T= (p.Ile708=)
c.6143T= (p.Ile2048=)
n.336-70601T=
c.6131T= (p.Ile2044=)
c.5786T= (p.Ile1929=)
c.2132T= (p.Ile711=)
c.6026T= (p.Ile2009=)
c.6017T= (p.Ile2006=)
c.6032T= (p.Ile2011=)
c.329T= (p.Ile110=)
Xg.32287664A>CCA412666420DMDc.1001T>G (p.Ile334Ser)
c.6155T>G (p.Ile2052Ser)
c.2123T>G (p.Ile708Ser)
c.6143T>G (p.Ile2048Ser)
n.336-70601T>G
c.6131T>G (p.Ile2044Ser)
c.5786T>G (p.Ile1929Ser)
c.2132T>G (p.Ile711Ser)
c.6026T>G (p.Ile2009Ser)
c.6017T>G (p.Ile2006Ser)
c.6032T>G (p.Ile2011Ser)
c.329T>G (p.Ile110Ser)
Xg.32287664A>GCA412666423DMDc.1001T>C (p.Ile334Thr)
c.6155T>C (p.Ile2052Thr)
c.2123T>C (p.Ile708Thr)
c.6143T>C (p.Ile2048Thr)
n.336-70601T>C
c.6131T>C (p.Ile2044Thr)
c.5786T>C (p.Ile1929Thr)
c.2132T>C (p.Ile711Thr)
c.6026T>C (p.Ile2009Thr)
c.6017T>C (p.Ile2006Thr)
c.6032T>C (p.Ile2011Thr)
c.329T>C (p.Ile110Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32287664A>TCA10378519DMDc.1001T>A (p.Ile334Asn)
c.6155T>A (p.Ile2052Asn)
c.2123T>A (p.Ile708Asn)
c.6143T>A (p.Ile2048Asn)
n.336-70601T>A
c.6131T>A (p.Ile2044Asn)
c.5786T>A (p.Ile1929Asn)
c.2132T>A (p.Ile711Asn)
c.6026T>A (p.Ile2009Asn)
c.6017T>A (p.Ile2006Asn)
c.6032T>A (p.Ile2011Asn)
c.329T>A (p.Ile110Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32287665delCA2580100634DMDc.1000del (p.Ile334LeufsTer21)
c.6154del (p.Ile2052LeufsTer21)
c.2122del (p.Ile708LeufsTer21)
c.6142del (p.Ile2048LeufsTer21)
n.336-70602del
c.6130del (p.Ile2044LeufsTer21)
c.5785del (p.Ile1929LeufsTer21)
c.2131del (p.Ile711LeufsTer21)
c.6025del (p.Ile2009LeufsTer21)
c.6016del (p.Ile2006LeufsTer21)
c.6031del (p.Ile2011LeufsTer21)
c.328del (p.Ile110LeufsTer21)
 ClinVar
Xg.32287665T>ACA412666432DMDc.1000A>T (p.Ile334Phe)
c.6154A>T (p.Ile2052Phe)
c.2122A>T (p.Ile708Phe)
c.6142A>T (p.Ile2048Phe)
n.336-70602A>T
c.6130A>T (p.Ile2044Phe)
c.5785A>T (p.Ile1929Phe)
c.2131A>T (p.Ile711Phe)
c.6025A>T (p.Ile2009Phe)
c.6016A>T (p.Ile2006Phe)
c.6031A>T (p.Ile2011Phe)
c.328A>T (p.Ile110Phe)
Xg.32287665T>CCA412666439DMDc.1000A>G (p.Ile334Val)
c.6154A>G (p.Ile2052Val)
c.2122A>G (p.Ile708Val)
c.6142A>G (p.Ile2048Val)
n.336-70602A>G
c.6130A>G (p.Ile2044Val)
c.5785A>G (p.Ile1929Val)
c.2131A>G (p.Ile711Val)
c.6025A>G (p.Ile2009Val)
c.6016A>G (p.Ile2006Val)
c.6031A>G (p.Ile2011Val)
c.328A>G (p.Ile110Val)
Xg.32287665T>GCA412666429DMDc.1000A>C (p.Ile334Leu)
c.6154A>C (p.Ile2052Leu)
c.2122A>C (p.Ile708Leu)
c.6142A>C (p.Ile2048Leu)
n.336-70602A>C
c.6130A>C (p.Ile2044Leu)
c.5785A>C (p.Ile1929Leu)
c.2131A>C (p.Ile711Leu)
c.6025A>C (p.Ile2009Leu)
c.6016A>C (p.Ile2006Leu)
c.6031A>C (p.Ile2011Leu)
c.328A>C (p.Ile110Leu)
Xg.32287666C>ACA515860869DMDc.999G>T (p.Arg333=)
c.6153G>T (p.Arg2051=)
c.2121G>T (p.Arg707=)
c.6141G>T (p.Arg2047=)
n.336-70603G>T
c.6129G>T (p.Arg2043=)
c.5784G>T (p.Arg1928=)
c.2130G>T (p.Arg710=)
c.6024G>T (p.Arg2008=)
c.6015G>T (p.Arg2005=)
c.6030G>T (p.Arg2010=)
c.327G>T (p.Arg109=)
Xg.32287666C=CA2422736455DMDc.999G= (p.Arg333=)
c.6153G= (p.Arg2051=)
c.2121G= (p.Arg707=)
c.6141G= (p.Arg2047=)
n.336-70603G=
c.6129G= (p.Arg2043=)
c.5784G= (p.Arg1928=)
c.2130G= (p.Arg710=)
c.6024G= (p.Arg2008=)
c.6015G= (p.Arg2005=)
c.6030G= (p.Arg2010=)
c.327G= (p.Arg109=)
Xg.32287666C>GCA515860871DMDc.999G>C (p.Arg333=)
c.6153G>C (p.Arg2051=)
c.2121G>C (p.Arg707=)
c.6141G>C (p.Arg2047=)
n.336-70603G>C
c.6129G>C (p.Arg2043=)
c.5784G>C (p.Arg1928=)
c.2130G>C (p.Arg710=)
c.6024G>C (p.Arg2008=)
c.6015G>C (p.Arg2005=)
c.6030G>C (p.Arg2010=)
c.327G>C (p.Arg109=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32287666C>TCA515860870DMDc.999G>A (p.Arg333=)
c.6153G>A (p.Arg2051=)
c.2121G>A (p.Arg707=)
c.6141G>A (p.Arg2047=)
n.336-70603G>A
c.6129G>A (p.Arg2043=)
c.5784G>A (p.Arg1928=)
c.2130G>A (p.Arg710=)
c.6024G>A (p.Arg2008=)
c.6015G>A (p.Arg2005=)
c.6030G>A (p.Arg2010=)
c.327G>A (p.Arg109=)
Xg.32287667C>ACA412666442DMDc.998G>T (p.Arg333Leu)
c.6152G>T (p.Arg2051Leu)
c.2120G>T (p.Arg707Leu)
c.6140G>T (p.Arg2047Leu)
n.336-70604G>T
c.6128G>T (p.Arg2043Leu)
c.5783G>T (p.Arg1928Leu)
c.2129G>T (p.Arg710Leu)
c.6023G>T (p.Arg2008Leu)
c.6014G>T (p.Arg2005Leu)
c.6029G>T (p.Arg2010Leu)
c.326G>T (p.Arg109Leu)
Xg.32287667C=CA2422736456DMDc.998G= (p.Arg333=)
c.6152G= (p.Arg2051=)
c.2120G= (p.Arg707=)
c.6140G= (p.Arg2047=)
n.336-70604G=
c.6128G= (p.Arg2043=)
c.5783G= (p.Arg1928=)
c.2129G= (p.Arg710=)
c.6023G= (p.Arg2008=)
c.6014G= (p.Arg2005=)
c.6029G= (p.Arg2010=)
c.326G= (p.Arg109=)
Xg.32287667C>GCA412666445DMDc.998G>C (p.Arg333Pro)
c.6152G>C (p.Arg2051Pro)
c.2120G>C (p.Arg707Pro)
c.6140G>C (p.Arg2047Pro)
n.336-70604G>C
c.6128G>C (p.Arg2043Pro)
c.5783G>C (p.Arg1928Pro)
c.2129G>C (p.Arg710Pro)
c.6023G>C (p.Arg2008Pro)
c.6014G>C (p.Arg2005Pro)
c.6029G>C (p.Arg2010Pro)
c.326G>C (p.Arg109Pro)
Xg.32287667C>TCA10378520DMDc.998G>A (p.Arg333Gln)
c.6152G>A (p.Arg2051Gln)
c.2120G>A (p.Arg707Gln)
c.6140G>A (p.Arg2047Gln)
n.336-70604G>A
c.6128G>A (p.Arg2043Gln)
c.5783G>A (p.Arg1928Gln)
c.2129G>A (p.Arg710Gln)
c.6023G>A (p.Arg2008Gln)
c.6014G>A (p.Arg2005Gln)
c.6029G>A (p.Arg2010Gln)
c.326G>A (p.Arg109Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32287667_32287668delinsCGCA2422736457DMDc.997_998delinsCG (p.Arg333=)
c.6151_6152delinsCG (p.Arg2051=)
c.2119_2120delinsCG (p.Arg707=)
c.6139_6140delinsCG (p.Arg2047=)
n.336-70605_336-70604delinsCG
c.6127_6128delinsCG (p.Arg2043=)
c.5782_5783delinsCG (p.Arg1928=)
c.2128_2129delinsCG (p.Arg710=)
c.6022_6023delinsCG (p.Arg2008=)
c.6013_6014delinsCG (p.Arg2005=)
c.6028_6029delinsCG (p.Arg2010=)
c.325_326delinsCG (p.Arg109=)
Xg.32287668delCA915950855DMDc.997del (p.Arg333GlyfsTer22)
c.6151del (p.Arg2051GlyfsTer22)
c.2119del (p.Arg707GlyfsTer22)
c.6139del (p.Arg2047GlyfsTer22)
n.336-70605del
c.6127del (p.Arg2043GlyfsTer22)
c.5782del (p.Arg1928GlyfsTer22)
c.2128del (p.Arg710GlyfsTer22)
c.6022del (p.Arg2008GlyfsTer22)
c.6013del (p.Arg2005GlyfsTer22)
c.6028del (p.Arg2010GlyfsTer22)
c.325del (p.Arg109GlyfsTer22)
 ClinVar dbSNP
Xg.32287668G>ACA10378521DMDc.997C>T (p.Arg333Trp)
c.6151C>T (p.Arg2051Trp)
c.2119C>T (p.Arg707Trp)
c.6139C>T (p.Arg2047Trp)
n.336-70605C>T
c.6127C>T (p.Arg2043Trp)
c.5782C>T (p.Arg1928Trp)
c.2128C>T (p.Arg710Trp)
c.6022C>T (p.Arg2008Trp)
c.6013C>T (p.Arg2005Trp)
c.6028C>T (p.Arg2010Trp)
c.325C>T (p.Arg109Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32287668G>CCA412666453DMDc.997C>G (p.Arg333Gly)
c.6151C>G (p.Arg2051Gly)
c.2119C>G (p.Arg707Gly)
c.6139C>G (p.Arg2047Gly)
n.336-70605C>G
c.6127C>G (p.Arg2043Gly)
c.5782C>G (p.Arg1928Gly)
c.2128C>G (p.Arg710Gly)
c.6022C>G (p.Arg2008Gly)
c.6013C>G (p.Arg2005Gly)
c.6028C>G (p.Arg2010Gly)
c.325C>G (p.Arg109Gly)
Xg.32287668G=CA2422736458DMDc.997C= (p.Arg333=)
c.6151C= (p.Arg2051=)
c.2119C= (p.Arg707=)
c.6139C= (p.Arg2047=)
n.336-70605C=
c.6127C= (p.Arg2043=)
c.5782C= (p.Arg1928=)
c.2128C= (p.Arg710=)
c.6022C= (p.Arg2008=)
c.6013C= (p.Arg2005=)
c.6028C= (p.Arg2010=)
c.325C= (p.Arg109=)
Xg.32287668G>TCA515860877DMDc.997C>A (p.Arg333=)
c.6151C>A (p.Arg2051=)
c.2119C>A (p.Arg707=)
c.6139C>A (p.Arg2047=)
n.336-70605C>A
c.6127C>A (p.Arg2043=)
c.5782C>A (p.Arg1928=)
c.2128C>A (p.Arg710=)
c.6022C>A (p.Arg2008=)
c.6013C>A (p.Arg2005=)
c.6028C>A (p.Arg2010=)
c.325C>A (p.Arg109=)
 ClinVar gnomAD v4
Xg.32287669A>CCA515860878DMDc.996T>G (p.Gly332=)
c.6150T>G (p.Gly2050=)
c.2118T>G (p.Gly706=)
c.6138T>G (p.Gly2046=)
n.336-70606T>G
c.6126T>G (p.Gly2042=)
c.5781T>G (p.Gly1927=)
c.2127T>G (p.Gly709=)
c.6021T>G (p.Gly2007=)
c.6012T>G (p.Gly2004=)
c.6027T>G (p.Gly2009=)
c.324T>G (p.Gly108=)
Xg.32287669A>GCA515860880DMDc.996T>C (p.Gly332=)
c.6150T>C (p.Gly2050=)
c.2118T>C (p.Gly706=)
c.6138T>C (p.Gly2046=)
n.336-70606T>C
c.6126T>C (p.Gly2042=)
c.5781T>C (p.Gly1927=)
c.2127T>C (p.Gly709=)
c.6021T>C (p.Gly2007=)
c.6012T>C (p.Gly2004=)
c.6027T>C (p.Gly2009=)
c.324T>C (p.Gly108=)
Xg.32287669A>TCA515860882DMDc.996T>A (p.Gly332=)
c.6150T>A (p.Gly2050=)
c.2118T>A (p.Gly706=)
c.6138T>A (p.Gly2046=)
n.336-70606T>A
c.6126T>A (p.Gly2042=)
c.5781T>A (p.Gly1927=)
c.2127T>A (p.Gly709=)
c.6021T>A (p.Gly2007=)
c.6012T>A (p.Gly2004=)
c.6027T>A (p.Gly2009=)
c.324T>A (p.Gly108=)
Xg.32287670C>ACA412666463DMDc.995G>T (p.Gly332Val)
c.6149G>T (p.Gly2050Val)
c.2117G>T (p.Gly706Val)
c.6137G>T (p.Gly2046Val)
n.336-70607G>T
c.6125G>T (p.Gly2042Val)
c.5780G>T (p.Gly1927Val)
c.2126G>T (p.Gly709Val)
c.6020G>T (p.Gly2007Val)
c.6011G>T (p.Gly2004Val)
c.6026G>T (p.Gly2009Val)
c.323G>T (p.Gly108Val)
Xg.32287670C>GCA412666458DMDc.995G>C (p.Gly332Ala)
c.6149G>C (p.Gly2050Ala)
c.2117G>C (p.Gly706Ala)
c.6137G>C (p.Gly2046Ala)
n.336-70607G>C
c.6125G>C (p.Gly2042Ala)
c.5780G>C (p.Gly1927Ala)
c.2126G>C (p.Gly709Ala)
c.6020G>C (p.Gly2007Ala)
c.6011G>C (p.Gly2004Ala)
c.6026G>C (p.Gly2009Ala)
c.323G>C (p.Gly108Ala)
Xg.32287670C>TCA412666457DMDc.995G>A (p.Gly332Asp)
c.6149G>A (p.Gly2050Asp)
c.2117G>A (p.Gly706Asp)
c.6137G>A (p.Gly2046Asp)
n.336-70607G>A
c.6125G>A (p.Gly2042Asp)
c.5780G>A (p.Gly1927Asp)
c.2126G>A (p.Gly709Asp)
c.6020G>A (p.Gly2007Asp)
c.6011G>A (p.Gly2004Asp)
c.6026G>A (p.Gly2009Asp)
c.323G>A (p.Gly108Asp)
Xg.32287671C>ACA412666467DMDc.994G>T (p.Gly332Cys)
c.6148G>T (p.Gly2050Cys)
c.2116G>T (p.Gly706Cys)
c.6136G>T (p.Gly2046Cys)
n.336-70608G>T
c.6124G>T (p.Gly2042Cys)
c.5779G>T (p.Gly1927Cys)
c.2125G>T (p.Gly709Cys)
c.6019G>T (p.Gly2007Cys)
c.6010G>T (p.Gly2004Cys)
c.6025G>T (p.Gly2009Cys)
c.322G>T (p.Gly108Cys)
Xg.32287671C>GCA412666470DMDc.994G>C (p.Gly332Arg)
c.6148G>C (p.Gly2050Arg)
c.2116G>C (p.Gly706Arg)
c.6136G>C (p.Gly2046Arg)
n.336-70608G>C
c.6124G>C (p.Gly2042Arg)
c.5779G>C (p.Gly1927Arg)
c.2125G>C (p.Gly709Arg)
c.6019G>C (p.Gly2007Arg)
c.6010G>C (p.Gly2004Arg)
c.6025G>C (p.Gly2009Arg)
c.322G>C (p.Gly108Arg)
Xg.32287671C>TCA412666473DMDc.994G>A (p.Gly332Ser)
c.6148G>A (p.Gly2050Ser)
c.2116G>A (p.Gly706Ser)
c.6136G>A (p.Gly2046Ser)
n.336-70608G>A
c.6124G>A (p.Gly2042Ser)
c.5779G>A (p.Gly1927Ser)
c.2125G>A (p.Gly709Ser)
c.6019G>A (p.Gly2007Ser)
c.6010G>A (p.Gly2004Ser)
c.6025G>A (p.Gly2009Ser)
c.322G>A (p.Gly108Ser)
Xg.32287672delCA2580100635DMDc.993del (p.Gly332ValfsTer23)
c.6147del (p.Gly2050ValfsTer23)
c.2115del (p.Gly706ValfsTer23)
c.6135del (p.Gly2046ValfsTer23)
n.336-70609del
c.6123del (p.Gly2042ValfsTer23)
c.5778del (p.Gly1927ValfsTer23)
c.2124del (p.Gly709ValfsTer23)
c.6018del (p.Gly2007ValfsTer23)
c.6009del (p.Gly2004ValfsTer23)
c.6024del (p.Gly2009ValfsTer23)
c.321del (p.Gly108ValfsTer23)
 ClinVar
Xg.32287672T>ACA515860887DMDc.993A>T (p.Ser331=)
c.6147A>T (p.Ser2049=)
c.2115A>T (p.Ser705=)
c.6135A>T (p.Ser2045=)
n.336-70609A>T
c.6123A>T (p.Ser2041=)
c.5778A>T (p.Ser1926=)
c.2124A>T (p.Ser708=)
c.6018A>T (p.Ser2006=)
c.6009A>T (p.Ser2003=)
c.6024A>T (p.Ser2008=)
c.321A>T (p.Ser107=)
 COSMIC COSMIC COSMIC COSMIC
Xg.32287672T>CCA515860889DMDc.993A>G (p.Ser331=)
c.6147A>G (p.Ser2049=)
c.2115A>G (p.Ser705=)
c.6135A>G (p.Ser2045=)
n.336-70609A>G
c.6123A>G (p.Ser2041=)
c.5778A>G (p.Ser1926=)
c.2124A>G (p.Ser708=)
c.6018A>G (p.Ser2006=)
c.6009A>G (p.Ser2003=)
c.6024A>G (p.Ser2008=)
c.321A>G (p.Ser107=)
 ClinVar
Xg.32287672T>GCA515860891DMDc.993A>C (p.Ser331=)
c.6147A>C (p.Ser2049=)
c.2115A>C (p.Ser705=)
c.6135A>C (p.Ser2045=)
n.336-70609A>C
c.6123A>C (p.Ser2041=)
c.5778A>C (p.Ser1926=)
c.2124A>C (p.Ser708=)
c.6018A>C (p.Ser2006=)
c.6009A>C (p.Ser2003=)
c.6024A>C (p.Ser2008=)
c.321A>C (p.Ser107=)
 gnomAD v4
Xg.32287673G>ACA412666478DMDc.992C>T (p.Ser331Leu)
c.6146C>T (p.Ser2049Leu)
c.2114C>T (p.Ser705Leu)
c.6134C>T (p.Ser2045Leu)
n.336-70610C>T
c.6122C>T (p.Ser2041Leu)
c.5777C>T (p.Ser1926Leu)
c.2123C>T (p.Ser708Leu)
c.6017C>T (p.Ser2006Leu)
c.6008C>T (p.Ser2003Leu)
c.6023C>T (p.Ser2008Leu)
c.320C>T (p.Ser107Leu)
 gnomAD v4
Xg.32287673G>CCA328529829DMDc.992C>G (p.Ser331Ter)
c.6146C>G (p.Ser2049Ter)
c.2114C>G (p.Ser705Ter)
c.6134C>G (p.Ser2045Ter)
n.336-70610C>G
c.6122C>G (p.Ser2041Ter)
c.5777C>G (p.Ser1926Ter)
c.2123C>G (p.Ser708Ter)
c.6017C>G (p.Ser2006Ter)
c.6008C>G (p.Ser2003Ter)
c.6023C>G (p.Ser2008Ter)
c.320C>G (p.Ser107Ter)
 ClinVar dbSNP
Xg.32287673G=CA2422736459DMDc.992C= (p.Ser331=)
c.6146C= (p.Ser2049=)
c.2114C= (p.Ser705=)
c.6134C= (p.Ser2045=)
n.336-70610C=
c.6122C= (p.Ser2041=)
c.5777C= (p.Ser1926=)
c.2123C= (p.Ser708=)
c.6017C= (p.Ser2006=)
c.6008C= (p.Ser2003=)
c.6023C= (p.Ser2008=)
c.320C= (p.Ser107=)
Xg.32287673G>TCA412666482DMDc.992C>A (p.Ser331Ter)
c.6146C>A (p.Ser2049Ter)
c.2114C>A (p.Ser705Ter)
c.6134C>A (p.Ser2045Ter)
n.336-70610C>A
c.6122C>A (p.Ser2041Ter)
c.5777C>A (p.Ser1926Ter)
c.2123C>A (p.Ser708Ter)
c.6017C>A (p.Ser2006Ter)
c.6008C>A (p.Ser2003Ter)
c.6023C>A (p.Ser2008Ter)
c.320C>A (p.Ser107Ter)
Xg.32287674A>CCA412666488DMDc.991T>G (p.Ser331Ala)
c.6145T>G (p.Ser2049Ala)
c.2113T>G (p.Ser705Ala)
c.6133T>G (p.Ser2045Ala)
n.336-70611T>G
c.6121T>G (p.Ser2041Ala)
c.5776T>G (p.Ser1926Ala)
c.2122T>G (p.Ser708Ala)
c.6016T>G (p.Ser2006Ala)
c.6007T>G (p.Ser2003Ala)
c.6022T>G (p.Ser2008Ala)
c.319T>G (p.Ser107Ala)
Xg.32287674A>GCA412666492DMDc.991T>C (p.Ser331Pro)
c.6145T>C (p.Ser2049Pro)
c.2113T>C (p.Ser705Pro)
c.6133T>C (p.Ser2045Pro)
n.336-70611T>C
c.6121T>C (p.Ser2041Pro)
c.5776T>C (p.Ser1926Pro)
c.2122T>C (p.Ser708Pro)
c.6016T>C (p.Ser2006Pro)
c.6007T>C (p.Ser2003Pro)
c.6022T>C (p.Ser2008Pro)
c.319T>C (p.Ser107Pro)
Xg.32287674A>TCA412666490DMDc.991T>A (p.Ser331Thr)
c.6145T>A (p.Ser2049Thr)
c.2113T>A (p.Ser705Thr)
c.6133T>A (p.Ser2045Thr)
n.336-70611T>A
c.6121T>A (p.Ser2041Thr)
c.5776T>A (p.Ser1926Thr)
c.2122T>A (p.Ser708Thr)
c.6016T>A (p.Ser2006Thr)
c.6007T>A (p.Ser2003Thr)
c.6022T>A (p.Ser2008Thr)
c.319T>A (p.Ser107Thr)
Xg.32287675G>ACA515860899DMDc.990C>T (p.Ser330=)
c.6144C>T (p.Ser2048=)
c.2112C>T (p.Ser704=)
c.6132C>T (p.Ser2044=)
n.336-70612C>T
c.6120C>T (p.Ser2040=)
c.5775C>T (p.Ser1925=)
c.2121C>T (p.Ser707=)
c.6015C>T (p.Ser2005=)
c.6006C>T (p.Ser2002=)
c.6021C>T (p.Ser2007=)
c.318C>T (p.Ser106=)
Xg.32287675G>CCA412666494DMDc.990C>G (p.Ser330Arg)
c.6144C>G (p.Ser2048Arg)
c.2112C>G (p.Ser704Arg)
c.6132C>G (p.Ser2044Arg)
n.336-70612C>G
c.6120C>G (p.Ser2040Arg)
c.5775C>G (p.Ser1925Arg)
c.2121C>G (p.Ser707Arg)
c.6015C>G (p.Ser2005Arg)
c.6006C>G (p.Ser2002Arg)
c.6021C>G (p.Ser2007Arg)
c.318C>G (p.Ser106Arg)
Xg.32287675G>TCA412666497DMDc.990C>A (p.Ser330Arg)
c.6144C>A (p.Ser2048Arg)
c.2112C>A (p.Ser704Arg)
c.6132C>A (p.Ser2044Arg)
n.336-70612C>A
c.6120C>A (p.Ser2040Arg)
c.5775C>A (p.Ser1925Arg)
c.2121C>A (p.Ser707Arg)
c.6015C>A (p.Ser2005Arg)
c.6006C>A (p.Ser2002Arg)
c.6021C>A (p.Ser2007Arg)
c.318C>A (p.Ser106Arg)
Xg.32287676C>ACA412666501DMDc.989G>T (p.Ser330Ile)
c.6143G>T (p.Ser2048Ile)
c.2111G>T (p.Ser704Ile)
c.6131G>T (p.Ser2044Ile)
n.336-70613G>T
c.6119G>T (p.Ser2040Ile)
c.5774G>T (p.Ser1925Ile)
c.2120G>T (p.Ser707Ile)
c.6014G>T (p.Ser2005Ile)
c.6005G>T (p.Ser2002Ile)
c.6020G>T (p.Ser2007Ile)
c.317G>T (p.Ser106Ile)
 ClinVar gnomAD v4
Xg.32287676C=CA2422736460DMDc.989G= (p.Ser330=)
c.6143G= (p.Ser2048=)
c.2111G= (p.Ser704=)
c.6131G= (p.Ser2044=)
n.336-70613G=
c.6119G= (p.Ser2040=)
c.5774G= (p.Ser1925=)
c.2120G= (p.Ser707=)
c.6014G= (p.Ser2005=)
c.6005G= (p.Ser2002=)
c.6020G= (p.Ser2007=)
c.317G= (p.Ser106=)
Xg.32287676C>GCA412666504DMDc.989G>C (p.Ser330Thr)
c.6143G>C (p.Ser2048Thr)
c.2111G>C (p.Ser704Thr)
c.6131G>C (p.Ser2044Thr)
n.336-70613G>C
c.6119G>C (p.Ser2040Thr)
c.5774G>C (p.Ser1925Thr)
c.2120G>C (p.Ser707Thr)
c.6014G>C (p.Ser2005Thr)
c.6005G>C (p.Ser2002Thr)
c.6020G>C (p.Ser2007Thr)
c.317G>C (p.Ser106Thr)
Xg.32287676C>TCA10378522DMDc.989G>A (p.Ser330Asn)
c.6143G>A (p.Ser2048Asn)
c.2111G>A (p.Ser704Asn)
c.6131G>A (p.Ser2044Asn)
n.336-70613G>A
c.6119G>A (p.Ser2040Asn)
c.5774G>A (p.Ser1925Asn)
c.2120G>A (p.Ser707Asn)
c.6014G>A (p.Ser2005Asn)
c.6005G>A (p.Ser2002Asn)
c.6020G>A (p.Ser2007Asn)
c.317G>A (p.Ser106Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287677T>ACA412666509DMDc.988A>T (p.Ser330Cys)
c.6142A>T (p.Ser2048Cys)
c.2110A>T (p.Ser704Cys)
c.6130A>T (p.Ser2044Cys)
n.336-70614A>T
c.6118A>T (p.Ser2040Cys)
c.5773A>T (p.Ser1925Cys)
c.2119A>T (p.Ser707Cys)
c.6013A>T (p.Ser2005Cys)
c.6004A>T (p.Ser2002Cys)
c.6019A>T (p.Ser2007Cys)
c.316A>T (p.Ser106Cys)
Xg.32287677T>CCA412666512DMDc.988A>G (p.Ser330Gly)
c.6142A>G (p.Ser2048Gly)
c.2110A>G (p.Ser704Gly)
c.6130A>G (p.Ser2044Gly)
n.336-70614A>G
c.6118A>G (p.Ser2040Gly)
c.5773A>G (p.Ser1925Gly)
c.2119A>G (p.Ser707Gly)
c.6013A>G (p.Ser2005Gly)
c.6004A>G (p.Ser2002Gly)
c.6019A>G (p.Ser2007Gly)
c.316A>G (p.Ser106Gly)
Xg.32287677T>GCA412666515DMDc.988A>C (p.Ser330Arg)
c.6142A>C (p.Ser2048Arg)
c.2110A>C (p.Ser704Arg)
c.6130A>C (p.Ser2044Arg)
n.336-70614A>C
c.6118A>C (p.Ser2040Arg)
c.5773A>C (p.Ser1925Arg)
c.2119A>C (p.Ser707Arg)
c.6013A>C (p.Ser2005Arg)
c.6004A>C (p.Ser2002Arg)
c.6019A>C (p.Ser2007Arg)
c.316A>C (p.Ser106Arg)
Xg.32287678T>ACA412666520DMDc.987A>T (p.Gln329His)
c.6141A>T (p.Gln2047His)
c.2109A>T (p.Gln703His)
c.6129A>T (p.Gln2043His)
n.336-70615A>T
c.6117A>T (p.Gln2039His)
c.5772A>T (p.Gln1924His)
c.2118A>T (p.Gln706His)
c.6012A>T (p.Gln2004His)
c.6003A>T (p.Gln2001His)
c.6018A>T (p.Gln2006His)
c.315A>T (p.Gln105His)
Xg.32287678T>CCA515860905DMDc.987A>G (p.Gln329=)
c.6141A>G (p.Gln2047=)
c.2109A>G (p.Gln703=)
c.6129A>G (p.Gln2043=)
n.336-70615A>G
c.6117A>G (p.Gln2039=)
c.5772A>G (p.Gln1924=)
c.2118A>G (p.Gln706=)
c.6012A>G (p.Gln2004=)
c.6003A>G (p.Gln2001=)
c.6018A>G (p.Gln2006=)
c.315A>G (p.Gln105=)
Xg.32287678T>GCA412666522DMDc.987A>C (p.Gln329His)
c.6141A>C (p.Gln2047His)
c.2109A>C (p.Gln703His)
c.6129A>C (p.Gln2043His)
n.336-70615A>C
c.6117A>C (p.Gln2039His)
c.5772A>C (p.Gln1924His)
c.2118A>C (p.Gln706His)
c.6012A>C (p.Gln2004His)
c.6003A>C (p.Gln2001His)
c.6018A>C (p.Gln2006His)
c.315A>C (p.Gln105His)
Xg.32287682_32287684delCA2579579366DMDc.985_987del (p.Gln329del)
c.6139_6141del (p.Gln2047del)
c.2107_2109del (p.Gln703del)
c.6127_6129del (p.Gln2043del)
n.336-70617_336-70615del
c.6115_6117del (p.Gln2039del)
c.5770_5772del (p.Gln1924del)
c.2116_2118del (p.Gln706del)
c.6010_6012del (p.Gln2004del)
c.6001_6003del (p.Gln2001del)
c.6016_6018del (p.Gln2006del)
c.313_315del (p.Gln105del)
Xg.32287679T>ACA412666527DMDc.986A>T (p.Gln329Leu)
c.6140A>T (p.Gln2047Leu)
c.2108A>T (p.Gln703Leu)
c.6128A>T (p.Gln2043Leu)
n.336-70616A>T
c.6116A>T (p.Gln2039Leu)
c.5771A>T (p.Gln1924Leu)
c.2117A>T (p.Gln706Leu)
c.6011A>T (p.Gln2004Leu)
c.6002A>T (p.Gln2001Leu)
c.6017A>T (p.Gln2006Leu)
c.314A>T (p.Gln105Leu)
Xg.32287679T>CCA10378523DMDc.986A>G (p.Gln329Arg)
c.6140A>G (p.Gln2047Arg)
c.2108A>G (p.Gln703Arg)
c.6128A>G (p.Gln2043Arg)
n.336-70616A>G
c.6116A>G (p.Gln2039Arg)
c.5771A>G (p.Gln1924Arg)
c.2117A>G (p.Gln706Arg)
c.6011A>G (p.Gln2004Arg)
c.6002A>G (p.Gln2001Arg)
c.6017A>G (p.Gln2006Arg)
c.314A>G (p.Gln105Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287679T>GCA412666530DMDc.986A>C (p.Gln329Pro)
c.6140A>C (p.Gln2047Pro)
c.2108A>C (p.Gln703Pro)
c.6128A>C (p.Gln2043Pro)
n.336-70616A>C
c.6116A>C (p.Gln2039Pro)
c.5771A>C (p.Gln1924Pro)
c.2117A>C (p.Gln706Pro)
c.6011A>C (p.Gln2004Pro)
c.6002A>C (p.Gln2001Pro)
c.6017A>C (p.Gln2006Pro)
c.314A>C (p.Gln105Pro)
 gnomAD v4
Xg.32287679T=CA2422736461DMDc.986A= (p.Gln329=)
c.6140A= (p.Gln2047=)
c.2108A= (p.Gln703=)
c.6128A= (p.Gln2043=)
n.336-70616A=
c.6116A= (p.Gln2039=)
c.5771A= (p.Gln1924=)
c.2117A= (p.Gln706=)
c.6011A= (p.Gln2004=)
c.6002A= (p.Gln2001=)
c.6017A= (p.Gln2006=)
c.314A= (p.Gln105=)
Xg.32287680G>ACA10654749DMDc.985C>T (p.Gln329Ter)
c.6139C>T (p.Gln2047Ter)
c.2107C>T (p.Gln703Ter)
c.6127C>T (p.Gln2043Ter)
n.336-70617C>T
c.6115C>T (p.Gln2039Ter)
c.5770C>T (p.Gln1924Ter)
c.2116C>T (p.Gln706Ter)
c.6010C>T (p.Gln2004Ter)
c.6001C>T (p.Gln2001Ter)
c.6016C>T (p.Gln2006Ter)
c.313C>T (p.Gln105Ter)
 ClinVar dbSNP
Xg.32287680G>CCA412666540DMDc.985C>G (p.Gln329Glu)
c.6139C>G (p.Gln2047Glu)
c.2107C>G (p.Gln703Glu)
c.6127C>G (p.Gln2043Glu)
n.336-70617C>G
c.6115C>G (p.Gln2039Glu)
c.5770C>G (p.Gln1924Glu)
c.2116C>G (p.Gln706Glu)
c.6010C>G (p.Gln2004Glu)
c.6001C>G (p.Gln2001Glu)
c.6016C>G (p.Gln2006Glu)
c.313C>G (p.Gln105Glu)
Xg.32287680G=CA2422736462DMDc.985C= (p.Gln329=)
c.6139C= (p.Gln2047=)
c.2107C= (p.Gln703=)
c.6127C= (p.Gln2043=)
n.336-70617C=
c.6115C= (p.Gln2039=)
c.5770C= (p.Gln1924=)
c.2116C= (p.Gln706=)
c.6010C= (p.Gln2004=)
c.6001C= (p.Gln2001=)
c.6016C= (p.Gln2006=)
c.313C= (p.Gln105=)
Xg.32287680G>TCA412666535DMDc.985C>A (p.Gln329Lys)
c.6139C>A (p.Gln2047Lys)
c.2107C>A (p.Gln703Lys)
c.6127C>A (p.Gln2043Lys)
n.336-70617C>A
c.6115C>A (p.Gln2039Lys)
c.5770C>A (p.Gln1924Lys)
c.2116C>A (p.Gln706Lys)
c.6010C>A (p.Gln2004Lys)
c.6001C>A (p.Gln2001Lys)
c.6016C>A (p.Gln2006Lys)
c.313C>A (p.Gln105Lys)
Xg.32287681T>ACA412666543DMDc.984A>T (p.Gln328His)
c.6138A>T (p.Gln2046His)
c.2106A>T (p.Gln702His)
c.6126A>T (p.Gln2042His)
n.336-70618A>T
c.6114A>T (p.Gln2038His)
c.5769A>T (p.Gln1923His)
c.2115A>T (p.Gln705His)
c.6009A>T (p.Gln2003His)
c.6000A>T (p.Gln2000His)
c.6015A>T (p.Gln2005His)
c.312A>T (p.Gln104His)
 dbSNP gnomAD v4
Xg.32287681T>CCA10378524DMDc.984A>G (p.Gln328=)
c.6138A>G (p.Gln2046=)
c.2106A>G (p.Gln702=)
c.6126A>G (p.Gln2042=)
n.336-70618A>G
c.6114A>G (p.Gln2038=)
c.5769A>G (p.Gln1923=)
c.2115A>G (p.Gln705=)
c.6009A>G (p.Gln2003=)
c.6000A>G (p.Gln2000=)
c.6015A>G (p.Gln2005=)
c.312A>G (p.Gln104=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287681T>GCA412666545DMDc.984A>C (p.Gln328His)
c.6138A>C (p.Gln2046His)
c.2106A>C (p.Gln702His)
c.6126A>C (p.Gln2042His)
n.336-70618A>C
c.6114A>C (p.Gln2038His)
c.5769A>C (p.Gln1923His)
c.2115A>C (p.Gln705His)
c.6009A>C (p.Gln2003His)
c.6000A>C (p.Gln2000His)
c.6015A>C (p.Gln2005His)
c.312A>C (p.Gln104His)
Xg.32287681T=CA2422736463DMDc.984A= (p.Gln328=)
c.6138A= (p.Gln2046=)
c.2106A= (p.Gln702=)
c.6126A= (p.Gln2042=)
n.336-70618A=
c.6114A= (p.Gln2038=)
c.5769A= (p.Gln1923=)
c.2115A= (p.Gln705=)
c.6009A= (p.Gln2003=)
c.6000A= (p.Gln2000=)
c.6015A= (p.Gln2005=)
c.312A= (p.Gln104=)
Xg.32287682T>ACA412666559DMDc.983A>T (p.Gln328Leu)
c.6137A>T (p.Gln2046Leu)
c.2105A>T (p.Gln702Leu)
c.6125A>T (p.Gln2042Leu)
n.336-70619A>T
c.6113A>T (p.Gln2038Leu)
c.5768A>T (p.Gln1923Leu)
c.2114A>T (p.Gln705Leu)
c.6008A>T (p.Gln2003Leu)
c.5999A>T (p.Gln2000Leu)
c.6014A>T (p.Gln2005Leu)
c.311A>T (p.Gln104Leu)
Xg.32287682T>CCA412666567DMDc.983A>G (p.Gln328Arg)
c.6137A>G (p.Gln2046Arg)
c.2105A>G (p.Gln702Arg)
c.6125A>G (p.Gln2042Arg)
n.336-70619A>G
c.6113A>G (p.Gln2038Arg)
c.5768A>G (p.Gln1923Arg)
c.2114A>G (p.Gln705Arg)
c.6008A>G (p.Gln2003Arg)
c.5999A>G (p.Gln2000Arg)
c.6014A>G (p.Gln2005Arg)
c.311A>G (p.Gln104Arg)
Xg.32287682T>GCA412666565DMDc.983A>C (p.Gln328Pro)
c.6137A>C (p.Gln2046Pro)
c.2105A>C (p.Gln702Pro)
c.6125A>C (p.Gln2042Pro)
n.336-70619A>C
c.6113A>C (p.Gln2038Pro)
c.5768A>C (p.Gln1923Pro)
c.2114A>C (p.Gln705Pro)
c.6008A>C (p.Gln2003Pro)
c.5999A>C (p.Gln2000Pro)
c.6014A>C (p.Gln2005Pro)
c.311A>C (p.Gln104Pro)
Xg.32287683G>ACA412666577DMDc.982C>T (p.Gln328Ter)
c.6136C>T (p.Gln2046Ter)
c.2104C>T (p.Gln702Ter)
c.6124C>T (p.Gln2042Ter)
n.336-70620C>T
c.6112C>T (p.Gln2038Ter)
c.5767C>T (p.Gln1923Ter)
c.2113C>T (p.Gln705Ter)
c.6007C>T (p.Gln2003Ter)
c.5998C>T (p.Gln2000Ter)
c.6013C>T (p.Gln2005Ter)
c.310C>T (p.Gln104Ter)
 ClinVar dbSNP
Xg.32287683G>CCA412666579DMDc.982C>G (p.Gln328Glu)
c.6136C>G (p.Gln2046Glu)
c.2104C>G (p.Gln702Glu)
c.6124C>G (p.Gln2042Glu)
n.336-70620C>G
c.6112C>G (p.Gln2038Glu)
c.5767C>G (p.Gln1923Glu)
c.2113C>G (p.Gln705Glu)
c.6007C>G (p.Gln2003Glu)
c.5998C>G (p.Gln2000Glu)
c.6013C>G (p.Gln2005Glu)
c.310C>G (p.Gln104Glu)
Xg.32287683G>TCA412666582DMDc.982C>A (p.Gln328Lys)
c.6136C>A (p.Gln2046Lys)
c.2104C>A (p.Gln702Lys)
c.6124C>A (p.Gln2042Lys)
n.336-70620C>A
c.6112C>A (p.Gln2038Lys)
c.5767C>A (p.Gln1923Lys)
c.2113C>A (p.Gln705Lys)
c.6007C>A (p.Gln2003Lys)
c.5998C>A (p.Gln2000Lys)
c.6013C>A (p.Gln2005Lys)
c.310C>A (p.Gln104Lys)
Xg.32287684T>ACA515860919DMDc.981A>T (p.Leu327=)
c.6135A>T (p.Leu2045=)
c.2103A>T (p.Leu701=)
c.6123A>T (p.Leu2041=)
n.336-70621A>T
c.6111A>T (p.Leu2037=)
c.5766A>T (p.Leu1922=)
c.2112A>T (p.Leu704=)
c.6006A>T (p.Leu2002=)
c.5997A>T (p.Leu1999=)
c.6012A>T (p.Leu2004=)
c.309A>T (p.Leu103=)
Xg.32287684T>CCA10378525DMDc.981A>G (p.Leu327=)
c.6135A>G (p.Leu2045=)
c.2103A>G (p.Leu701=)
c.6123A>G (p.Leu2041=)
n.336-70621A>G
c.6111A>G (p.Leu2037=)
c.5766A>G (p.Leu1922=)
c.2112A>G (p.Leu704=)
c.6006A>G (p.Leu2002=)
c.5997A>G (p.Leu1999=)
c.6012A>G (p.Leu2004=)
c.309A>G (p.Leu103=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32287684T>GCA515860922DMDc.981A>C (p.Leu327=)
c.6135A>C (p.Leu2045=)
c.2103A>C (p.Leu701=)
c.6123A>C (p.Leu2041=)
n.336-70621A>C
c.6111A>C (p.Leu2037=)
c.5766A>C (p.Leu1922=)
c.2112A>C (p.Leu704=)
c.6006A>C (p.Leu2002=)
c.5997A>C (p.Leu1999=)
c.6012A>C (p.Leu2004=)
c.309A>C (p.Leu103=)
Xg.32287684T=CA2422736464DMDc.981A= (p.Leu327=)
c.6135A= (p.Leu2045=)
c.2103A= (p.Leu701=)
c.6123A= (p.Leu2041=)
n.336-70621A=
c.6111A= (p.Leu2037=)
c.5766A= (p.Leu1922=)
c.2112A= (p.Leu704=)
c.6006A= (p.Leu2002=)
c.5997A= (p.Leu1999=)
c.6012A= (p.Leu2004=)
c.309A= (p.Leu103=)
Xg.32287685A>CCA412666585DMDc.980T>G (p.Leu327Arg)
c.6134T>G (p.Leu2045Arg)
c.2102T>G (p.Leu701Arg)
c.6122T>G (p.Leu2041Arg)
n.336-70622T>G
c.6110T>G (p.Leu2037Arg)
c.5765T>G (p.Leu1922Arg)
c.2111T>G (p.Leu704Arg)
c.6005T>G (p.Leu2002Arg)
c.5996T>G (p.Leu1999Arg)
c.6011T>G (p.Leu2004Arg)
c.308T>G (p.Leu103Arg)
Xg.32287685A>GCA412666587DMDc.980T>C (p.Leu327Pro)
c.6134T>C (p.Leu2045Pro)
c.2102T>C (p.Leu701Pro)
c.6122T>C (p.Leu2041Pro)
n.336-70622T>C
c.6110T>C (p.Leu2037Pro)
c.5765T>C (p.Leu1922Pro)
c.2111T>C (p.Leu704Pro)
c.6005T>C (p.Leu2002Pro)
c.5996T>C (p.Leu1999Pro)
c.6011T>C (p.Leu2004Pro)
c.308T>C (p.Leu103Pro)
Xg.32287685A>TCA412666590DMDc.980T>A (p.Leu327Gln)
c.6134T>A (p.Leu2045Gln)
c.2102T>A (p.Leu701Gln)
c.6122T>A (p.Leu2041Gln)
n.336-70622T>A
c.6110T>A (p.Leu2037Gln)
c.5765T>A (p.Leu1922Gln)
c.2111T>A (p.Leu704Gln)
c.6005T>A (p.Leu2002Gln)
c.5996T>A (p.Leu1999Gln)
c.6011T>A (p.Leu2004Gln)
c.308T>A (p.Leu103Gln)
Xg.32287686G>ACA515860927DMDc.979C>T (p.Leu327=)
c.6133C>T (p.Leu2045=)
c.2101C>T (p.Leu701=)
c.6121C>T (p.Leu2041=)
n.336-70623C>T
c.6109C>T (p.Leu2037=)
c.5764C>T (p.Leu1922=)
c.2110C>T (p.Leu704=)
c.6004C>T (p.Leu2002=)
c.5995C>T (p.Leu1999=)
c.6010C>T (p.Leu2004=)
c.307C>T (p.Leu103=)
Xg.32287686G>CCA412666593DMDc.979C>G (p.Leu327Val)
c.6133C>G (p.Leu2045Val)
c.2101C>G (p.Leu701Val)
c.6121C>G (p.Leu2041Val)
n.336-70623C>G
c.6109C>G (p.Leu2037Val)
c.5764C>G (p.Leu1922Val)
c.2110C>G (p.Leu704Val)
c.6004C>G (p.Leu2002Val)
c.5995C>G (p.Leu1999Val)
c.6010C>G (p.Leu2004Val)
c.307C>G (p.Leu103Val)
Xg.32287686G>TCA412666598DMDc.979C>A (p.Leu327Ile)
c.6133C>A (p.Leu2045Ile)
c.2101C>A (p.Leu701Ile)
c.6121C>A (p.Leu2041Ile)
n.336-70623C>A
c.6109C>A (p.Leu2037Ile)
c.5764C>A (p.Leu1922Ile)
c.2110C>A (p.Leu704Ile)
c.6004C>A (p.Leu2002Ile)
c.5995C>A (p.Leu1999Ile)
c.6010C>A (p.Leu2004Ile)
c.307C>A (p.Leu103Ile)
Xg.32287686_32287689dupCA2573332566DMDc.976_979dup (p.Leu327GlnfsTer10)
c.6130_6133dup (p.Leu2045GlnfsTer10)
c.2098_2101dup (p.Leu701GlnfsTer10)
c.6118_6121dup (p.Leu2041GlnfsTer10)
n.336-70626_336-70623dup
c.6106_6109dup (p.Leu2037GlnfsTer10)
c.5761_5764dup (p.Leu1922GlnfsTer10)
c.2107_2110dup (p.Leu704GlnfsTer10)
c.6001_6004dup (p.Leu2002GlnfsTer10)
c.5992_5995dup (p.Leu1999GlnfsTer10)
c.6007_6010dup (p.Leu2004GlnfsTer10)
c.304_307dup (p.Leu103GlnfsTer10)
Xg.32287687A=CA2422736465DMDc.978T= (p.Ser326=)
c.6132T= (p.Ser2044=)
c.2100T= (p.Ser700=)
c.6120T= (p.Ser2040=)
n.336-70624T=
c.6108T= (p.Ser2036=)
c.5763T= (p.Ser1921=)
c.2109T= (p.Ser703=)
c.6003T= (p.Ser2001=)
c.5994T= (p.Ser1998=)
c.6009T= (p.Ser2003=)
c.306T= (p.Ser102=)
Xg.32287687A>CCA412666600DMDc.978T>G (p.Ser326Arg)
c.6132T>G (p.Ser2044Arg)
c.2100T>G (p.Ser700Arg)
c.6120T>G (p.Ser2040Arg)
n.336-70624T>G
c.6108T>G (p.Ser2036Arg)
c.5763T>G (p.Ser1921Arg)
c.2109T>G (p.Ser703Arg)
c.6003T>G (p.Ser2001Arg)
c.5994T>G (p.Ser1998Arg)
c.6009T>G (p.Ser2003Arg)
c.306T>G (p.Ser102Arg)
Xg.32287687A>GCA10378526DMDc.978T>C (p.Ser326=)
c.6132T>C (p.Ser2044=)
c.2100T>C (p.Ser700=)
c.6120T>C (p.Ser2040=)
n.336-70624T>C
c.6108T>C (p.Ser2036=)
c.5763T>C (p.Ser1921=)
c.2109T>C (p.Ser703=)
c.6003T>C (p.Ser2001=)
c.5994T>C (p.Ser1998=)
c.6009T>C (p.Ser2003=)
c.306T>C (p.Ser102=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287687A>TCA412666602DMDc.978T>A (p.Ser326Arg)
c.6132T>A (p.Ser2044Arg)
c.2100T>A (p.Ser700Arg)
c.6120T>A (p.Ser2040Arg)
n.336-70624T>A
c.6108T>A (p.Ser2036Arg)
c.5763T>A (p.Ser1921Arg)
c.2109T>A (p.Ser703Arg)
c.6003T>A (p.Ser2001Arg)
c.5994T>A (p.Ser1998Arg)
c.6009T>A (p.Ser2003Arg)
c.306T>A (p.Ser102Arg)
Xg.32287687_32287691delinsACTATCA2422736466DMDc.974_978delinsATAGT (p.Asp325=)
c.6128_6132delinsATAGT (p.Asp2043=)
c.2096_2100delinsATAGT (p.Asp699=)
c.6116_6120delinsATAGT (p.Asp2039=)
n.336-70628_336-70624delinsATAGT
c.6104_6108delinsATAGT (p.Asp2035=)
c.5759_5763delinsATAGT (p.Asp1920=)
c.2105_2109delinsATAGT (p.Asp702=)
c.5999_6003delinsATAGT (p.Asp2000=)
c.5990_5994delinsATAGT (p.Asp1997=)
c.6005_6009delinsATAGT (p.Asp2002=)
c.302_306delinsATAGT (p.Asp101=)
Xg.32287688C>ACA412666605DMDc.977G>T (p.Ser326Ile)
c.6131G>T (p.Ser2044Ile)
c.2099G>T (p.Ser700Ile)
c.6119G>T (p.Ser2040Ile)
n.336-70625G>T
c.6107G>T (p.Ser2036Ile)
c.5762G>T (p.Ser1921Ile)
c.2108G>T (p.Ser703Ile)
c.6002G>T (p.Ser2001Ile)
c.5993G>T (p.Ser1998Ile)
c.6008G>T (p.Ser2003Ile)
c.305G>T (p.Ser102Ile)
Xg.32287688C>GCA412666607DMDc.977G>C (p.Ser326Thr)
c.6131G>C (p.Ser2044Thr)
c.2099G>C (p.Ser700Thr)
c.6119G>C (p.Ser2040Thr)
n.336-70625G>C
c.6107G>C (p.Ser2036Thr)
c.5762G>C (p.Ser1921Thr)
c.2108G>C (p.Ser703Thr)
c.6002G>C (p.Ser2001Thr)
c.5993G>C (p.Ser1998Thr)
c.6008G>C (p.Ser2003Thr)
c.305G>C (p.Ser102Thr)
Xg.32287688C>TCA412666606DMDc.977G>A (p.Ser326Asn)
c.6131G>A (p.Ser2044Asn)
c.2099G>A (p.Ser700Asn)
c.6119G>A (p.Ser2040Asn)
n.336-70625G>A
c.6107G>A (p.Ser2036Asn)
c.5762G>A (p.Ser1921Asn)
c.2108G>A (p.Ser703Asn)
c.6002G>A (p.Ser2001Asn)
c.5993G>A (p.Ser1998Asn)
c.6008G>A (p.Ser2003Asn)
c.305G>A (p.Ser102Asn)
Xg.32287690_32287693delCA347585DMDc.974_977del (p.Asp325ValfsTer29)
c.6128_6131del (p.Asp2043ValfsTer29)
c.2096_2099del (p.Asp699ValfsTer29)
c.6116_6119del (p.Asp2039ValfsTer29)
n.336-70628_336-70625del
c.6104_6107del (p.Asp2035ValfsTer29)
c.5759_5762del (p.Asp1920ValfsTer29)
c.2105_2108del (p.Asp702ValfsTer29)
c.5999_6002del (p.Asp2000ValfsTer29)
c.5990_5993del (p.Asp1997ValfsTer29)
c.6005_6008del (p.Asp2002ValfsTer29)
c.302_305del (p.Asp101ValfsTer29)
 ClinVar dbSNP
Xg.32287689T>ACA412666608DMDc.976A>T (p.Ser326Cys)
c.6130A>T (p.Ser2044Cys)
c.2098A>T (p.Ser700Cys)
c.6118A>T (p.Ser2040Cys)
n.336-70626A>T
c.6106A>T (p.Ser2036Cys)
c.5761A>T (p.Ser1921Cys)
c.2107A>T (p.Ser703Cys)
c.6001A>T (p.Ser2001Cys)
c.5992A>T (p.Ser1998Cys)
c.6007A>T (p.Ser2003Cys)
c.304A>T (p.Ser102Cys)
Xg.32287689T>CCA412666610DMDc.976A>G (p.Ser326Gly)
c.6130A>G (p.Ser2044Gly)
c.2098A>G (p.Ser700Gly)
c.6118A>G (p.Ser2040Gly)
n.336-70626A>G
c.6106A>G (p.Ser2036Gly)
c.5761A>G (p.Ser1921Gly)
c.2107A>G (p.Ser703Gly)
c.6001A>G (p.Ser2001Gly)
c.5992A>G (p.Ser1998Gly)
c.6007A>G (p.Ser2003Gly)
c.304A>G (p.Ser102Gly)
 gnomAD v4
Xg.32287689T>GCA412666612DMDc.976A>C (p.Ser326Arg)
c.6130A>C (p.Ser2044Arg)
c.2098A>C (p.Ser700Arg)
c.6118A>C (p.Ser2040Arg)
n.336-70626A>C
c.6106A>C (p.Ser2036Arg)
c.5761A>C (p.Ser1921Arg)
c.2107A>C (p.Ser703Arg)
c.6001A>C (p.Ser2001Arg)
c.5992A>C (p.Ser1998Arg)
c.6007A>C (p.Ser2003Arg)
c.304A>C (p.Ser102Arg)
Xg.32287690A>CCA412666615DMDc.975T>G (p.Asp325Glu)
c.6129T>G (p.Asp2043Glu)
c.2097T>G (p.Asp699Glu)
c.6117T>G (p.Asp2039Glu)
n.336-70627T>G
c.6105T>G (p.Asp2035Glu)
c.5760T>G (p.Asp1920Glu)
c.2106T>G (p.Asp702Glu)
c.6000T>G (p.Asp2000Glu)
c.5991T>G (p.Asp1997Glu)
c.6006T>G (p.Asp2002Glu)
c.303T>G (p.Asp101Glu)
Xg.32287690A>GCA515860937DMDc.975T>C (p.Asp325=)
c.6129T>C (p.Asp2043=)
c.2097T>C (p.Asp699=)
c.6117T>C (p.Asp2039=)
n.336-70627T>C
c.6105T>C (p.Asp2035=)
c.5760T>C (p.Asp1920=)
c.2106T>C (p.Asp702=)
c.6000T>C (p.Asp2000=)
c.5991T>C (p.Asp1997=)
c.6006T>C (p.Asp2002=)
c.303T>C (p.Asp101=)
Xg.32287690A>TCA412666617DMDc.975T>A (p.Asp325Glu)
c.6129T>A (p.Asp2043Glu)
c.2097T>A (p.Asp699Glu)
c.6117T>A (p.Asp2039Glu)
n.336-70627T>A
c.6105T>A (p.Asp2035Glu)
c.5760T>A (p.Asp1920Glu)
c.2106T>A (p.Asp702Glu)
c.6000T>A (p.Asp2000Glu)
c.5991T>A (p.Asp1997Glu)
c.6006T>A (p.Asp2002Glu)
c.303T>A (p.Asp101Glu)
Xg.32287691T>ACA412666618DMDc.974A>T (p.Asp325Val)
c.6128A>T (p.Asp2043Val)
c.2096A>T (p.Asp699Val)
c.6116A>T (p.Asp2039Val)
n.336-70628A>T
c.6104A>T (p.Asp2035Val)
c.5759A>T (p.Asp1920Val)
c.2105A>T (p.Asp702Val)
c.5999A>T (p.Asp2000Val)
c.5990A>T (p.Asp1997Val)
c.6005A>T (p.Asp2002Val)
c.302A>T (p.Asp101Val)
Xg.32287691T>CCA10378527DMDc.974A>G (p.Asp325Gly)
c.6128A>G (p.Asp2043Gly)
c.2096A>G (p.Asp699Gly)
c.6116A>G (p.Asp2039Gly)
n.336-70628A>G
c.6104A>G (p.Asp2035Gly)
c.5759A>G (p.Asp1920Gly)
c.2105A>G (p.Asp702Gly)
c.5999A>G (p.Asp2000Gly)
c.5990A>G (p.Asp1997Gly)
c.6005A>G (p.Asp2002Gly)
c.302A>G (p.Asp101Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287691T>GCA412666619DMDc.974A>C (p.Asp325Ala)
c.6128A>C (p.Asp2043Ala)
c.2096A>C (p.Asp699Ala)
c.6116A>C (p.Asp2039Ala)
n.336-70628A>C
c.6104A>C (p.Asp2035Ala)
c.5759A>C (p.Asp1920Ala)
c.2105A>C (p.Asp702Ala)
c.5999A>C (p.Asp2000Ala)
c.5990A>C (p.Asp1997Ala)
c.6005A>C (p.Asp2002Ala)
c.302A>C (p.Asp101Ala)
Xg.32287691T=CA2422736467DMDc.974A= (p.Asp325=)
c.6128A= (p.Asp2043=)
c.2096A= (p.Asp699=)
c.6116A= (p.Asp2039=)
n.336-70628A=
c.6104A= (p.Asp2035=)
c.5759A= (p.Asp1920=)
c.2105A= (p.Asp702=)
c.5999A= (p.Asp2000=)
c.5990A= (p.Asp1997=)
c.6005A= (p.Asp2002=)
c.302A= (p.Asp101=)
Xg.32287692delCA2695232717DMDc.973del (p.Asp325IlefsTer30)
c.6127del (p.Asp2043IlefsTer30)
c.2095del (p.Asp699IlefsTer30)
c.6115del (p.Asp2039IlefsTer30)
n.336-70629del
c.6103del (p.Asp2035IlefsTer30)
c.5758del (p.Asp1920IlefsTer30)
c.2104del (p.Asp702IlefsTer30)
c.5998del (p.Asp2000IlefsTer30)
c.5989del (p.Asp1997IlefsTer30)
c.6004del (p.Asp2002IlefsTer30)
c.301del (p.Asp101IlefsTer30)
Xg.32287692C>ACA412666623DMDc.973G>T (p.Asp325Tyr)
c.6127G>T (p.Asp2043Tyr)
c.2095G>T (p.Asp699Tyr)
c.6115G>T (p.Asp2039Tyr)
n.336-70629G>T
c.6103G>T (p.Asp2035Tyr)
c.5758G>T (p.Asp1920Tyr)
c.2104G>T (p.Asp702Tyr)
c.5998G>T (p.Asp2000Tyr)
c.5989G>T (p.Asp1997Tyr)
c.6004G>T (p.Asp2002Tyr)
c.301G>T (p.Asp101Tyr)
Xg.32287692C>GCA412666622DMDc.973G>C (p.Asp325His)
c.6127G>C (p.Asp2043His)
c.2095G>C (p.Asp699His)
c.6115G>C (p.Asp2039His)
n.336-70629G>C
c.6103G>C (p.Asp2035His)
c.5758G>C (p.Asp1920His)
c.2104G>C (p.Asp702His)
c.5998G>C (p.Asp2000His)
c.5989G>C (p.Asp1997His)
c.6004G>C (p.Asp2002His)
c.301G>C (p.Asp101His)
Xg.32287692C>TCA412666620DMDc.973G>A (p.Asp325Asn)
c.6127G>A (p.Asp2043Asn)
c.2095G>A (p.Asp699Asn)
c.6115G>A (p.Asp2039Asn)
n.336-70629G>A
c.6103G>A (p.Asp2035Asn)
c.5758G>A (p.Asp1920Asn)
c.2104G>A (p.Asp702Asn)
c.5998G>A (p.Asp2000Asn)
c.5989G>A (p.Asp1997Asn)
c.6004G>A (p.Asp2002Asn)
c.301G>A (p.Asp101Asn)
Xg.32287693T>ACA412666626DMDc.972A>T (p.Lys324Asn)
c.6126A>T (p.Lys2042Asn)
c.2094A>T (p.Lys698Asn)
c.6114A>T (p.Lys2038Asn)
n.336-70630A>T
c.6102A>T (p.Lys2034Asn)
c.5757A>T (p.Lys1919Asn)
c.2103A>T (p.Lys701Asn)
c.5997A>T (p.Lys1999Asn)
c.5988A>T (p.Lys1996Asn)
c.6003A>T (p.Lys2001Asn)
c.300A>T (p.Lys100Asn)
Xg.32287693T>CCA515860945DMDc.972A>G (p.Lys324=)
c.6126A>G (p.Lys2042=)
c.2094A>G (p.Lys698=)
c.6114A>G (p.Lys2038=)
n.336-70630A>G
c.6102A>G (p.Lys2034=)
c.5757A>G (p.Lys1919=)
c.2103A>G (p.Lys701=)
c.5997A>G (p.Lys1999=)
c.5988A>G (p.Lys1996=)
c.6003A>G (p.Lys2001=)
c.300A>G (p.Lys100=)
Xg.32287693T>GCA412666632DMDc.972A>C (p.Lys324Asn)
c.6126A>C (p.Lys2042Asn)
c.2094A>C (p.Lys698Asn)
c.6114A>C (p.Lys2038Asn)
n.336-70630A>C
c.6102A>C (p.Lys2034Asn)
c.5757A>C (p.Lys1919Asn)
c.2103A>C (p.Lys701Asn)
c.5997A>C (p.Lys1999Asn)
c.5988A>C (p.Lys1996Asn)
c.6003A>C (p.Lys2001Asn)
c.300A>C (p.Lys100Asn)
Xg.32287696delCA2579579367DMDc.972del (p.Asp325IlefsTer?)
c.6126del (p.Asp2043IlefsTer?)
c.2094del (p.Asp699IlefsTer?)
c.6114del (p.Asp2039IlefsTer?)
n.336-70630del
c.6102del (p.Asp2035IlefsTer?)
c.5757del (p.Asp1920IlefsTer?)
c.2103del (p.Asp702IlefsTer?)
c.5997del (p.Asp2000IlefsTer?)
c.5988del (p.Asp1997IlefsTer?)
c.6003del (p.Asp2002IlefsTer?)
c.300del (p.Asp101IlefsTer?)
 gnomAD v4
Xg.32287694T>ACA412666634DMDc.971A>T (p.Lys324Ile)
c.6125A>T (p.Lys2042Ile)
c.2093A>T (p.Lys698Ile)
c.6113A>T (p.Lys2038Ile)
n.336-70631A>T
c.6101A>T (p.Lys2034Ile)
c.5756A>T (p.Lys1919Ile)
c.2102A>T (p.Lys701Ile)
c.5996A>T (p.Lys1999Ile)
c.5987A>T (p.Lys1996Ile)
c.6002A>T (p.Lys2001Ile)
c.299A>T (p.Lys100Ile)
Xg.32287694T>CCA412666637DMDc.971A>G (p.Lys324Arg)
c.6125A>G (p.Lys2042Arg)
c.2093A>G (p.Lys698Arg)
c.6113A>G (p.Lys2038Arg)
n.336-70631A>G
c.6101A>G (p.Lys2034Arg)
c.5756A>G (p.Lys1919Arg)
c.2102A>G (p.Lys701Arg)
c.5996A>G (p.Lys1999Arg)
c.5987A>G (p.Lys1996Arg)
c.6002A>G (p.Lys2001Arg)
c.299A>G (p.Lys100Arg)
Xg.32287694T>GCA412666639DMDc.971A>C (p.Lys324Thr)
c.6125A>C (p.Lys2042Thr)
c.2093A>C (p.Lys698Thr)
c.6113A>C (p.Lys2038Thr)
n.336-70631A>C
c.6101A>C (p.Lys2034Thr)
c.5756A>C (p.Lys1919Thr)
c.2102A>C (p.Lys701Thr)
c.5996A>C (p.Lys1999Thr)
c.5987A>C (p.Lys1996Thr)
c.6002A>C (p.Lys2001Thr)
c.299A>C (p.Lys100Thr)
Xg.32287695T>ACA412666642DMDc.970A>T (p.Lys324Ter)
c.6124A>T (p.Lys2042Ter)
c.2092A>T (p.Lys698Ter)
c.6112A>T (p.Lys2038Ter)
n.336-70632A>T
c.6100A>T (p.Lys2034Ter)
c.5755A>T (p.Lys1919Ter)
c.2101A>T (p.Lys701Ter)
c.5995A>T (p.Lys1999Ter)
c.5986A>T (p.Lys1996Ter)
c.6001A>T (p.Lys2001Ter)
c.298A>T (p.Lys100Ter)
 ClinVar dbSNP
Xg.32287695T>CCA412666647DMDc.970A>G (p.Lys324Glu)
c.6124A>G (p.Lys2042Glu)
c.2092A>G (p.Lys698Glu)
c.6112A>G (p.Lys2038Glu)
n.336-70632A>G
c.6100A>G (p.Lys2034Glu)
c.5755A>G (p.Lys1919Glu)
c.2101A>G (p.Lys701Glu)
c.5995A>G (p.Lys1999Glu)
c.5986A>G (p.Lys1996Glu)
c.6001A>G (p.Lys2001Glu)
c.298A>G (p.Lys100Glu)
 dbSNP gnomAD v2 gnomAD v4
Xg.32287695T>GCA412666649DMDc.970A>C (p.Lys324Gln)
c.6124A>C (p.Lys2042Gln)
c.2092A>C (p.Lys698Gln)
c.6112A>C (p.Lys2038Gln)
n.336-70632A>C
c.6100A>C (p.Lys2034Gln)
c.5755A>C (p.Lys1919Gln)
c.2101A>C (p.Lys701Gln)
c.5995A>C (p.Lys1999Gln)
c.5986A>C (p.Lys1996Gln)
c.6001A>C (p.Lys2001Gln)
c.298A>C (p.Lys100Gln)
Xg.32287695T=CA2422736468DMDc.970A= (p.Lys324=)
c.6124A= (p.Lys2042=)
c.2092A= (p.Lys698=)
c.6112A= (p.Lys2038=)
n.336-70632A=
c.6100A= (p.Lys2034=)
c.5755A= (p.Lys1919=)
c.2101A= (p.Lys701=)
c.5995A= (p.Lys1999=)
c.5986A= (p.Lys1996=)
c.6001A= (p.Lys2001=)
c.298A= (p.Lys100=)
Xg.32287696T>ACA515860954DMDc.969A>T (p.Ile323=)
c.6123A>T (p.Ile2041=)
c.2091A>T (p.Ile697=)
c.6111A>T (p.Ile2037=)
n.336-70633A>T
c.6099A>T (p.Ile2033=)
c.5754A>T (p.Ile1918=)
c.2100A>T (p.Ile700=)
c.5994A>T (p.Ile1998=)
c.5985A>T (p.Ile1995=)
c.6000A>T (p.Ile2000=)
c.297A>T (p.Ile99=)
Xg.32287696T>CCA412666651DMDc.969A>G (p.Ile323Met)
c.6123A>G (p.Ile2041Met)
c.2091A>G (p.Ile697Met)
c.6111A>G (p.Ile2037Met)
n.336-70633A>G
c.6099A>G (p.Ile2033Met)
c.5754A>G (p.Ile1918Met)
c.2100A>G (p.Ile700Met)
c.5994A>G (p.Ile1998Met)
c.5985A>G (p.Ile1995Met)
c.6000A>G (p.Ile2000Met)
c.297A>G (p.Ile99Met)
Xg.32287696T>GCA515860952DMDc.969A>C (p.Ile323=)
c.6123A>C (p.Ile2041=)
c.2091A>C (p.Ile697=)
c.6111A>C (p.Ile2037=)
n.336-70633A>C
c.6099A>C (p.Ile2033=)
c.5754A>C (p.Ile1918=)
c.2100A>C (p.Ile700=)
c.5994A>C (p.Ile1998=)
c.5985A>C (p.Ile1995=)
c.6000A>C (p.Ile2000=)
c.297A>C (p.Ile99=)

Number of alleles fetched