Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.31203925A=CA2422347546DMDc.4653+36T= (n.4653+36T=)
c.603+36T= (n.603+36T=)
n.605+36T=
c.2427+36T= (n.2427+36T=)
n.1324+36T=
n.906+36T=
n.1325+36T=
n.3299+36T=
c.1662+36T= (n.1662+36T=)
c.9807+36T= (n.9807+36T=)
c.5775+36T= (n.5775+36T=)
c.480+36T= (n.480+36T=)
c.546+36T= (n.546+36T=)
n.737+36T=
c.1620+36T= (n.1620+36T=)
c.2895+36T= (n.2895+36T=)
c.9795+36T= (n.9795+36T=)
c.177+36T= (n.177+36T=)
c.9792+36T= (n.9792+36T=)
c.9804+36T= (n.9804+36T=)
c.9783+36T= (n.9783+36T=)
c.9438+36T= (n.9438+36T=)
c.5784+36T= (n.5784+36T=)
c.9678+36T= (n.9678+36T=)
c.9669+36T= (n.9669+36T=)
c.9684+36T= (n.9684+36T=)
c.3981+36T= (n.3981+36T=)
Xg.31203925A>TCA10377745DMDc.4653+36T>A (n.4653+36T>A)
c.603+36T>A (n.603+36T>A)
n.605+36T>A
c.2427+36T>A (n.2427+36T>A)
n.1324+36T>A
n.906+36T>A
n.1325+36T>A
n.3299+36T>A
c.1662+36T>A (n.1662+36T>A)
c.9807+36T>A (n.9807+36T>A)
c.5775+36T>A (n.5775+36T>A)
c.480+36T>A (n.480+36T>A)
c.546+36T>A (n.546+36T>A)
n.737+36T>A
c.1620+36T>A (n.1620+36T>A)
c.2895+36T>A (n.2895+36T>A)
c.9795+36T>A (n.9795+36T>A)
c.177+36T>A (n.177+36T>A)
c.9792+36T>A (n.9792+36T>A)
c.9804+36T>A (n.9804+36T>A)
c.9783+36T>A (n.9783+36T>A)
c.9438+36T>A (n.9438+36T>A)
c.5784+36T>A (n.5784+36T>A)
c.9678+36T>A (n.9678+36T>A)
c.9669+36T>A (n.9669+36T>A)
c.9684+36T>A (n.9684+36T>A)
c.3981+36T>A (n.3981+36T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31203926G>ACA2693386830DMDc.4653+35C>T (n.4653+35C>T)
c.603+35C>T (n.603+35C>T)
n.605+35C>T
c.2427+35C>T (n.2427+35C>T)
n.1324+35C>T
n.906+35C>T
n.1325+35C>T
n.3299+35C>T
c.1662+35C>T (n.1662+35C>T)
c.9807+35C>T (n.9807+35C>T)
c.5775+35C>T (n.5775+35C>T)
c.480+35C>T (n.480+35C>T)
c.546+35C>T (n.546+35C>T)
n.737+35C>T
c.1620+35C>T (n.1620+35C>T)
c.2895+35C>T (n.2895+35C>T)
c.9795+35C>T (n.9795+35C>T)
c.177+35C>T (n.177+35C>T)
c.9792+35C>T (n.9792+35C>T)
c.9804+35C>T (n.9804+35C>T)
c.9783+35C>T (n.9783+35C>T)
c.9438+35C>T (n.9438+35C>T)
c.5784+35C>T (n.5784+35C>T)
c.9678+35C>T (n.9678+35C>T)
c.9669+35C>T (n.9669+35C>T)
c.9684+35C>T (n.9684+35C>T)
c.3981+35C>T (n.3981+35C>T)
 gnomAD v4
Xg.31203926G>TCA2693386831DMDc.4653+35C>A (n.4653+35C>A)
c.603+35C>A (n.603+35C>A)
n.605+35C>A
c.2427+35C>A (n.2427+35C>A)
n.1324+35C>A
n.906+35C>A
n.1325+35C>A
n.3299+35C>A
c.1662+35C>A (n.1662+35C>A)
c.9807+35C>A (n.9807+35C>A)
c.5775+35C>A (n.5775+35C>A)
c.480+35C>A (n.480+35C>A)
c.546+35C>A (n.546+35C>A)
n.737+35C>A
c.1620+35C>A (n.1620+35C>A)
c.2895+35C>A (n.2895+35C>A)
c.9795+35C>A (n.9795+35C>A)
c.177+35C>A (n.177+35C>A)
c.9792+35C>A (n.9792+35C>A)
c.9804+35C>A (n.9804+35C>A)
c.9783+35C>A (n.9783+35C>A)
c.9438+35C>A (n.9438+35C>A)
c.5784+35C>A (n.5784+35C>A)
c.9678+35C>A (n.9678+35C>A)
c.9669+35C>A (n.9669+35C>A)
c.9684+35C>A (n.9684+35C>A)
c.3981+35C>A (n.3981+35C>A)
 gnomAD v4
Xg.31203928A>GCA2693386832DMDc.4653+33T>C (n.4653+33T>C)
c.603+33T>C (n.603+33T>C)
n.605+33T>C
c.2427+33T>C (n.2427+33T>C)
n.1324+33T>C
n.906+33T>C
n.1325+33T>C
n.3299+33T>C
c.1662+33T>C (n.1662+33T>C)
c.9807+33T>C (n.9807+33T>C)
c.5775+33T>C (n.5775+33T>C)
c.480+33T>C (n.480+33T>C)
c.546+33T>C (n.546+33T>C)
n.737+33T>C
c.1620+33T>C (n.1620+33T>C)
c.2895+33T>C (n.2895+33T>C)
c.9795+33T>C (n.9795+33T>C)
c.177+33T>C (n.177+33T>C)
c.9792+33T>C (n.9792+33T>C)
c.9804+33T>C (n.9804+33T>C)
c.9783+33T>C (n.9783+33T>C)
c.9438+33T>C (n.9438+33T>C)
c.5784+33T>C (n.5784+33T>C)
c.9678+33T>C (n.9678+33T>C)
c.9669+33T>C (n.9669+33T>C)
c.9684+33T>C (n.9684+33T>C)
c.3981+33T>C (n.3981+33T>C)
 gnomAD v4
Xg.31203929delCA2693386833DMDc.4653+32del (n.4653+32del)
c.603+32del (n.603+32del)
n.605+32del
c.2427+32del (n.2427+32del)
n.1324+32del
n.906+32del
n.1325+32del
n.3299+32del
c.1662+32del (n.1662+32del)
c.9807+32del (n.9807+32del)
c.5775+32del (n.5775+32del)
c.480+32del (n.480+32del)
c.546+32del (n.546+32del)
n.737+32del
c.1620+32del (n.1620+32del)
c.2895+32del (n.2895+32del)
c.9795+32del (n.9795+32del)
c.177+32del (n.177+32del)
c.9792+32del (n.9792+32del)
c.9804+32del (n.9804+32del)
c.9783+32del (n.9783+32del)
c.9438+32del (n.9438+32del)
c.5784+32del (n.5784+32del)
c.9678+32del (n.9678+32del)
c.9669+32del (n.9669+32del)
c.9684+32del (n.9684+32del)
c.3981+32del (n.3981+32del)
 gnomAD v4
Xg.31203929T>CCA2693386834DMDc.4653+32A>G (n.4653+32A>G)
c.603+32A>G (n.603+32A>G)
n.605+32A>G
c.2427+32A>G (n.2427+32A>G)
n.1324+32A>G
n.906+32A>G
n.1325+32A>G
n.3299+32A>G
c.1662+32A>G (n.1662+32A>G)
c.9807+32A>G (n.9807+32A>G)
c.5775+32A>G (n.5775+32A>G)
c.480+32A>G (n.480+32A>G)
c.546+32A>G (n.546+32A>G)
n.737+32A>G
c.1620+32A>G (n.1620+32A>G)
c.2895+32A>G (n.2895+32A>G)
c.9795+32A>G (n.9795+32A>G)
c.177+32A>G (n.177+32A>G)
c.9792+32A>G (n.9792+32A>G)
c.9804+32A>G (n.9804+32A>G)
c.9783+32A>G (n.9783+32A>G)
c.9438+32A>G (n.9438+32A>G)
c.5784+32A>G (n.5784+32A>G)
c.9678+32A>G (n.9678+32A>G)
c.9669+32A>G (n.9669+32A>G)
c.9684+32A>G (n.9684+32A>G)
c.3981+32A>G (n.3981+32A>G)
 gnomAD v4
Xg.31203932A>CCA2693386835DMDc.4653+29T>G (n.4653+29T>G)
c.603+29T>G (n.603+29T>G)
n.605+29T>G
c.2427+29T>G (n.2427+29T>G)
n.1324+29T>G
n.906+29T>G
n.1325+29T>G
n.3299+29T>G
c.1662+29T>G (n.1662+29T>G)
c.9807+29T>G (n.9807+29T>G)
c.5775+29T>G (n.5775+29T>G)
c.480+29T>G (n.480+29T>G)
c.546+29T>G (n.546+29T>G)
n.737+29T>G
c.1620+29T>G (n.1620+29T>G)
c.2895+29T>G (n.2895+29T>G)
c.9795+29T>G (n.9795+29T>G)
c.177+29T>G (n.177+29T>G)
c.9792+29T>G (n.9792+29T>G)
c.9804+29T>G (n.9804+29T>G)
c.9783+29T>G (n.9783+29T>G)
c.9438+29T>G (n.9438+29T>G)
c.5784+29T>G (n.5784+29T>G)
c.9678+29T>G (n.9678+29T>G)
c.9669+29T>G (n.9669+29T>G)
c.9684+29T>G (n.9684+29T>G)
c.3981+29T>G (n.3981+29T>G)
 gnomAD v4
Xg.31203934A>GCA2579578612DMDc.4653+27T>C (n.4653+27T>C)
c.603+27T>C (n.603+27T>C)
n.605+27T>C
c.2427+27T>C (n.2427+27T>C)
n.1324+27T>C
n.906+27T>C
n.1325+27T>C
n.3299+27T>C
c.1662+27T>C (n.1662+27T>C)
c.9807+27T>C (n.9807+27T>C)
c.5775+27T>C (n.5775+27T>C)
c.480+27T>C (n.480+27T>C)
c.546+27T>C (n.546+27T>C)
n.737+27T>C
c.1620+27T>C (n.1620+27T>C)
c.2895+27T>C (n.2895+27T>C)
c.9795+27T>C (n.9795+27T>C)
c.177+27T>C (n.177+27T>C)
c.9792+27T>C (n.9792+27T>C)
c.9804+27T>C (n.9804+27T>C)
c.9783+27T>C (n.9783+27T>C)
c.9438+27T>C (n.9438+27T>C)
c.5784+27T>C (n.5784+27T>C)
c.9678+27T>C (n.9678+27T>C)
c.9669+27T>C (n.9669+27T>C)
c.9684+27T>C (n.9684+27T>C)
c.3981+27T>C (n.3981+27T>C)
Xg.31203935T>CCA10377746DMDc.4653+26A>G (n.4653+26A>G)
c.603+26A>G (n.603+26A>G)
n.605+26A>G
c.2427+26A>G (n.2427+26A>G)
n.1324+26A>G
n.906+26A>G
n.1325+26A>G
n.3299+26A>G
c.1662+26A>G (n.1662+26A>G)
c.9807+26A>G (n.9807+26A>G)
c.5775+26A>G (n.5775+26A>G)
c.480+26A>G (n.480+26A>G)
c.546+26A>G (n.546+26A>G)
n.737+26A>G
c.1620+26A>G (n.1620+26A>G)
c.2895+26A>G (n.2895+26A>G)
c.9795+26A>G (n.9795+26A>G)
c.177+26A>G (n.177+26A>G)
c.9792+26A>G (n.9792+26A>G)
c.9804+26A>G (n.9804+26A>G)
c.9783+26A>G (n.9783+26A>G)
c.9438+26A>G (n.9438+26A>G)
c.5784+26A>G (n.5784+26A>G)
c.9678+26A>G (n.9678+26A>G)
c.9669+26A>G (n.9669+26A>G)
c.9684+26A>G (n.9684+26A>G)
c.3981+26A>G (n.3981+26A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31203935T>GCA2422347547DMDc.4653+26A>C (n.4653+26A>C)
c.603+26A>C (n.603+26A>C)
n.605+26A>C
c.2427+26A>C (n.2427+26A>C)
n.1324+26A>C
n.906+26A>C
n.1325+26A>C
n.3299+26A>C
c.1662+26A>C (n.1662+26A>C)
c.9807+26A>C (n.9807+26A>C)
c.5775+26A>C (n.5775+26A>C)
c.480+26A>C (n.480+26A>C)
c.546+26A>C (n.546+26A>C)
n.737+26A>C
c.1620+26A>C (n.1620+26A>C)
c.2895+26A>C (n.2895+26A>C)
c.9795+26A>C (n.9795+26A>C)
c.177+26A>C (n.177+26A>C)
c.9792+26A>C (n.9792+26A>C)
c.9804+26A>C (n.9804+26A>C)
c.9783+26A>C (n.9783+26A>C)
c.9438+26A>C (n.9438+26A>C)
c.5784+26A>C (n.5784+26A>C)
c.9678+26A>C (n.9678+26A>C)
c.9669+26A>C (n.9669+26A>C)
c.9684+26A>C (n.9684+26A>C)
c.3981+26A>C (n.3981+26A>C)
 dbSNP
Xg.31203935T=CA2422347548DMDc.4653+26A= (n.4653+26A=)
c.603+26A= (n.603+26A=)
n.605+26A=
c.2427+26A= (n.2427+26A=)
n.1324+26A=
n.906+26A=
n.1325+26A=
n.3299+26A=
c.1662+26A= (n.1662+26A=)
c.9807+26A= (n.9807+26A=)
c.5775+26A= (n.5775+26A=)
c.480+26A= (n.480+26A=)
c.546+26A= (n.546+26A=)
n.737+26A=
c.1620+26A= (n.1620+26A=)
c.2895+26A= (n.2895+26A=)
c.9795+26A= (n.9795+26A=)
c.177+26A= (n.177+26A=)
c.9792+26A= (n.9792+26A=)
c.9804+26A= (n.9804+26A=)
c.9783+26A= (n.9783+26A=)
c.9438+26A= (n.9438+26A=)
c.5784+26A= (n.5784+26A=)
c.9678+26A= (n.9678+26A=)
c.9669+26A= (n.9669+26A=)
c.9684+26A= (n.9684+26A=)
c.3981+26A= (n.3981+26A=)
Xg.31203936G>ACA328407666DMDc.4653+25C>T (n.4653+25C>T)
c.603+25C>T (n.603+25C>T)
n.605+25C>T
c.2427+25C>T (n.2427+25C>T)
n.1324+25C>T
n.906+25C>T
n.1325+25C>T
n.3299+25C>T
c.1662+25C>T (n.1662+25C>T)
c.9807+25C>T (n.9807+25C>T)
c.5775+25C>T (n.5775+25C>T)
c.480+25C>T (n.480+25C>T)
c.546+25C>T (n.546+25C>T)
n.737+25C>T
c.1620+25C>T (n.1620+25C>T)
c.2895+25C>T (n.2895+25C>T)
c.9795+25C>T (n.9795+25C>T)
c.177+25C>T (n.177+25C>T)
c.9792+25C>T (n.9792+25C>T)
c.9804+25C>T (n.9804+25C>T)
c.9783+25C>T (n.9783+25C>T)
c.9438+25C>T (n.9438+25C>T)
c.5784+25C>T (n.5784+25C>T)
c.9678+25C>T (n.9678+25C>T)
c.9669+25C>T (n.9669+25C>T)
c.9684+25C>T (n.9684+25C>T)
c.3981+25C>T (n.3981+25C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.31203936G=CA2422347549DMDc.4653+25C= (n.4653+25C=)
c.603+25C= (n.603+25C=)
n.605+25C=
c.2427+25C= (n.2427+25C=)
n.1324+25C=
n.906+25C=
n.1325+25C=
n.3299+25C=
c.1662+25C= (n.1662+25C=)
c.9807+25C= (n.9807+25C=)
c.5775+25C= (n.5775+25C=)
c.480+25C= (n.480+25C=)
c.546+25C= (n.546+25C=)
n.737+25C=
c.1620+25C= (n.1620+25C=)
c.2895+25C= (n.2895+25C=)
c.9795+25C= (n.9795+25C=)
c.177+25C= (n.177+25C=)
c.9792+25C= (n.9792+25C=)
c.9804+25C= (n.9804+25C=)
c.9783+25C= (n.9783+25C=)
c.9438+25C= (n.9438+25C=)
c.5784+25C= (n.5784+25C=)
c.9678+25C= (n.9678+25C=)
c.9669+25C= (n.9669+25C=)
c.9684+25C= (n.9684+25C=)
c.3981+25C= (n.3981+25C=)
Xg.31203936G>TCA2693386836DMDc.4653+25C>A (n.4653+25C>A)
c.603+25C>A (n.603+25C>A)
n.605+25C>A
c.2427+25C>A (n.2427+25C>A)
n.1324+25C>A
n.906+25C>A
n.1325+25C>A
n.3299+25C>A
c.1662+25C>A (n.1662+25C>A)
c.9807+25C>A (n.9807+25C>A)
c.5775+25C>A (n.5775+25C>A)
c.480+25C>A (n.480+25C>A)
c.546+25C>A (n.546+25C>A)
n.737+25C>A
c.1620+25C>A (n.1620+25C>A)
c.2895+25C>A (n.2895+25C>A)
c.9795+25C>A (n.9795+25C>A)
c.177+25C>A (n.177+25C>A)
c.9792+25C>A (n.9792+25C>A)
c.9804+25C>A (n.9804+25C>A)
c.9783+25C>A (n.9783+25C>A)
c.9438+25C>A (n.9438+25C>A)
c.5784+25C>A (n.5784+25C>A)
c.9678+25C>A (n.9678+25C>A)
c.9669+25C>A (n.9669+25C>A)
c.9684+25C>A (n.9684+25C>A)
c.3981+25C>A (n.3981+25C>A)
 gnomAD v4
Xg.31203937T>CCA2693386837DMDc.4653+24A>G (n.4653+24A>G)
c.603+24A>G (n.603+24A>G)
n.605+24A>G
c.2427+24A>G (n.2427+24A>G)
n.1324+24A>G
n.906+24A>G
n.1325+24A>G
n.3299+24A>G
c.1662+24A>G (n.1662+24A>G)
c.9807+24A>G (n.9807+24A>G)
c.5775+24A>G (n.5775+24A>G)
c.480+24A>G (n.480+24A>G)
c.546+24A>G (n.546+24A>G)
n.737+24A>G
c.1620+24A>G (n.1620+24A>G)
c.2895+24A>G (n.2895+24A>G)
c.9795+24A>G (n.9795+24A>G)
c.177+24A>G (n.177+24A>G)
c.9792+24A>G (n.9792+24A>G)
c.9804+24A>G (n.9804+24A>G)
c.9783+24A>G (n.9783+24A>G)
c.9438+24A>G (n.9438+24A>G)
c.5784+24A>G (n.5784+24A>G)
c.9678+24A>G (n.9678+24A>G)
c.9669+24A>G (n.9669+24A>G)
c.9684+24A>G (n.9684+24A>G)
c.3981+24A>G (n.3981+24A>G)
 gnomAD v4
Xg.31203940C>TCA2693386838DMDc.4653+21G>A (n.4653+21G>A)
c.603+21G>A (n.603+21G>A)
n.605+21G>A
c.2427+21G>A (n.2427+21G>A)
n.1324+21G>A
n.906+21G>A
n.1325+21G>A
n.3299+21G>A
c.1662+21G>A (n.1662+21G>A)
c.9807+21G>A (n.9807+21G>A)
c.5775+21G>A (n.5775+21G>A)
c.480+21G>A (n.480+21G>A)
c.546+21G>A (n.546+21G>A)
n.737+21G>A
c.1620+21G>A (n.1620+21G>A)
c.2895+21G>A (n.2895+21G>A)
c.9795+21G>A (n.9795+21G>A)
c.177+21G>A (n.177+21G>A)
c.9792+21G>A (n.9792+21G>A)
c.9804+21G>A (n.9804+21G>A)
c.9783+21G>A (n.9783+21G>A)
c.9438+21G>A (n.9438+21G>A)
c.5784+21G>A (n.5784+21G>A)
c.9678+21G>A (n.9678+21G>A)
c.9669+21G>A (n.9669+21G>A)
c.9684+21G>A (n.9684+21G>A)
c.3981+21G>A (n.3981+21G>A)
 gnomAD v4
Xg.31203941C>TCA2579578613DMDc.4653+20G>A (n.4653+20G>A)
c.603+20G>A (n.603+20G>A)
n.605+20G>A
c.2427+20G>A (n.2427+20G>A)
n.1324+20G>A
n.906+20G>A
n.1325+20G>A
n.3299+20G>A
c.1662+20G>A (n.1662+20G>A)
c.9807+20G>A (n.9807+20G>A)
c.5775+20G>A (n.5775+20G>A)
c.480+20G>A (n.480+20G>A)
c.546+20G>A (n.546+20G>A)
n.737+20G>A
c.1620+20G>A (n.1620+20G>A)
c.2895+20G>A (n.2895+20G>A)
c.9795+20G>A (n.9795+20G>A)
c.177+20G>A (n.177+20G>A)
c.9792+20G>A (n.9792+20G>A)
c.9804+20G>A (n.9804+20G>A)
c.9783+20G>A (n.9783+20G>A)
c.9438+20G>A (n.9438+20G>A)
c.5784+20G>A (n.5784+20G>A)
c.9678+20G>A (n.9678+20G>A)
c.9669+20G>A (n.9669+20G>A)
c.9684+20G>A (n.9684+20G>A)
c.3981+20G>A (n.3981+20G>A)
Xg.31203942delCA2579578614DMDc.4653+19del (n.4653+19del)
c.603+19del (n.603+19del)
n.605+19del
c.2427+19del (n.2427+19del)
n.1324+19del
n.906+19del
n.1325+19del
n.3299+19del
c.1662+19del (n.1662+19del)
c.9807+19del (n.9807+19del)
c.5775+19del (n.5775+19del)
c.480+19del (n.480+19del)
c.546+19del (n.546+19del)
n.737+19del
c.1620+19del (n.1620+19del)
c.2895+19del (n.2895+19del)
c.9795+19del (n.9795+19del)
c.177+19del (n.177+19del)
c.9792+19del (n.9792+19del)
c.9804+19del (n.9804+19del)
c.9783+19del (n.9783+19del)
c.9438+19del (n.9438+19del)
c.5784+19del (n.5784+19del)
c.9678+19del (n.9678+19del)
c.9669+19del (n.9669+19del)
c.9684+19del (n.9684+19del)
c.3981+19del (n.3981+19del)
Xg.31203942T>CCA2693386839DMDc.4653+19A>G (n.4653+19A>G)
c.603+19A>G (n.603+19A>G)
n.605+19A>G
c.2427+19A>G (n.2427+19A>G)
n.1324+19A>G
n.906+19A>G
n.1325+19A>G
n.3299+19A>G
c.1662+19A>G (n.1662+19A>G)
c.9807+19A>G (n.9807+19A>G)
c.5775+19A>G (n.5775+19A>G)
c.480+19A>G (n.480+19A>G)
c.546+19A>G (n.546+19A>G)
n.737+19A>G
c.1620+19A>G (n.1620+19A>G)
c.2895+19A>G (n.2895+19A>G)
c.9795+19A>G (n.9795+19A>G)
c.177+19A>G (n.177+19A>G)
c.9792+19A>G (n.9792+19A>G)
c.9804+19A>G (n.9804+19A>G)
c.9783+19A>G (n.9783+19A>G)
c.9438+19A>G (n.9438+19A>G)
c.5784+19A>G (n.5784+19A>G)
c.9678+19A>G (n.9678+19A>G)
c.9669+19A>G (n.9669+19A>G)
c.9684+19A>G (n.9684+19A>G)
c.3981+19A>G (n.3981+19A>G)
 gnomAD v4
Xg.31203942T=CA2422347550DMDc.4653+19A= (n.4653+19A=)
c.603+19A= (n.603+19A=)
n.605+19A=
c.2427+19A= (n.2427+19A=)
n.1324+19A=
n.906+19A=
n.1325+19A=
n.3299+19A=
c.1662+19A= (n.1662+19A=)
c.9807+19A= (n.9807+19A=)
c.5775+19A= (n.5775+19A=)
c.480+19A= (n.480+19A=)
c.546+19A= (n.546+19A=)
n.737+19A=
c.1620+19A= (n.1620+19A=)
c.2895+19A= (n.2895+19A=)
c.9795+19A= (n.9795+19A=)
c.177+19A= (n.177+19A=)
c.9792+19A= (n.9792+19A=)
c.9804+19A= (n.9804+19A=)
c.9783+19A= (n.9783+19A=)
c.9438+19A= (n.9438+19A=)
c.5784+19A= (n.5784+19A=)
c.9678+19A= (n.9678+19A=)
c.9669+19A= (n.9669+19A=)
c.9684+19A= (n.9684+19A=)
c.3981+19A= (n.3981+19A=)
Xg.31203943A=CA2422347552DMDc.4653+18T= (n.4653+18T=)
c.603+18T= (n.603+18T=)
n.605+18T=
c.2427+18T= (n.2427+18T=)
n.1324+18T=
n.906+18T=
n.1325+18T=
n.3299+18T=
c.1662+18T= (n.1662+18T=)
c.9807+18T= (n.9807+18T=)
c.5775+18T= (n.5775+18T=)
c.480+18T= (n.480+18T=)
c.546+18T= (n.546+18T=)
n.737+18T=
c.1620+18T= (n.1620+18T=)
c.2895+18T= (n.2895+18T=)
c.9795+18T= (n.9795+18T=)
c.177+18T= (n.177+18T=)
c.9792+18T= (n.9792+18T=)
c.9804+18T= (n.9804+18T=)
c.9783+18T= (n.9783+18T=)
c.9438+18T= (n.9438+18T=)
c.5784+18T= (n.5784+18T=)
c.9678+18T= (n.9678+18T=)
c.9669+18T= (n.9669+18T=)
c.9684+18T= (n.9684+18T=)
c.3981+18T= (n.3981+18T=)
Xg.31203943A>CCA2693386840DMDc.4653+18T>G (n.4653+18T>G)
c.603+18T>G (n.603+18T>G)
n.605+18T>G
c.2427+18T>G (n.2427+18T>G)
n.1324+18T>G
n.906+18T>G
n.1325+18T>G
n.3299+18T>G
c.1662+18T>G (n.1662+18T>G)
c.9807+18T>G (n.9807+18T>G)
c.5775+18T>G (n.5775+18T>G)
c.480+18T>G (n.480+18T>G)
c.546+18T>G (n.546+18T>G)
n.737+18T>G
c.1620+18T>G (n.1620+18T>G)
c.2895+18T>G (n.2895+18T>G)
c.9795+18T>G (n.9795+18T>G)
c.177+18T>G (n.177+18T>G)
c.9792+18T>G (n.9792+18T>G)
c.9804+18T>G (n.9804+18T>G)
c.9783+18T>G (n.9783+18T>G)
c.9438+18T>G (n.9438+18T>G)
c.5784+18T>G (n.5784+18T>G)
c.9678+18T>G (n.9678+18T>G)
c.9669+18T>G (n.9669+18T>G)
c.9684+18T>G (n.9684+18T>G)
c.3981+18T>G (n.3981+18T>G)
 gnomAD v4
Xg.31203943A>GCA874607805DMDc.4653+18T>C (n.4653+18T>C)
c.603+18T>C (n.603+18T>C)
n.605+18T>C
c.2427+18T>C (n.2427+18T>C)
n.1324+18T>C
n.906+18T>C
n.1325+18T>C
n.3299+18T>C
c.1662+18T>C (n.1662+18T>C)
c.9807+18T>C (n.9807+18T>C)
c.5775+18T>C (n.5775+18T>C)
c.480+18T>C (n.480+18T>C)
c.546+18T>C (n.546+18T>C)
n.737+18T>C
c.1620+18T>C (n.1620+18T>C)
c.2895+18T>C (n.2895+18T>C)
c.9795+18T>C (n.9795+18T>C)
c.177+18T>C (n.177+18T>C)
c.9792+18T>C (n.9792+18T>C)
c.9804+18T>C (n.9804+18T>C)
c.9783+18T>C (n.9783+18T>C)
c.9438+18T>C (n.9438+18T>C)
c.5784+18T>C (n.5784+18T>C)
c.9678+18T>C (n.9678+18T>C)
c.9669+18T>C (n.9669+18T>C)
c.9684+18T>C (n.9684+18T>C)
c.3981+18T>C (n.3981+18T>C)
 dbSNP gnomAD v4
Xg.31203943dupCA2422347551DMDc.4653+18dup (n.4653+18dup)
c.603+18dup (n.603+18dup)
n.605+18dup
c.2427+18dup (n.2427+18dup)
n.1324+18dup
n.906+18dup
n.1325+18dup
n.3299+18dup
c.1662+18dup (n.1662+18dup)
c.9807+18dup (n.9807+18dup)
c.5775+18dup (n.5775+18dup)
c.480+18dup (n.480+18dup)
c.546+18dup (n.546+18dup)
n.737+18dup
c.1620+18dup (n.1620+18dup)
c.2895+18dup (n.2895+18dup)
c.9795+18dup (n.9795+18dup)
c.177+18dup (n.177+18dup)
c.9792+18dup (n.9792+18dup)
c.9804+18dup (n.9804+18dup)
c.9783+18dup (n.9783+18dup)
c.9438+18dup (n.9438+18dup)
c.5784+18dup (n.5784+18dup)
c.9678+18dup (n.9678+18dup)
c.9669+18dup (n.9669+18dup)
c.9684+18dup (n.9684+18dup)
c.3981+18dup (n.3981+18dup)
 dbSNP
Xg.31203944G>ACA2579578615DMDc.4653+17C>T (n.4653+17C>T)
c.603+17C>T (n.603+17C>T)
n.605+17C>T
c.2427+17C>T (n.2427+17C>T)
n.1324+17C>T
n.906+17C>T
n.1325+17C>T
n.3299+17C>T
c.1662+17C>T (n.1662+17C>T)
c.9807+17C>T (n.9807+17C>T)
c.5775+17C>T (n.5775+17C>T)
c.480+17C>T (n.480+17C>T)
c.546+17C>T (n.546+17C>T)
n.737+17C>T
c.1620+17C>T (n.1620+17C>T)
c.2895+17C>T (n.2895+17C>T)
c.9795+17C>T (n.9795+17C>T)
c.177+17C>T (n.177+17C>T)
c.9792+17C>T (n.9792+17C>T)
c.9804+17C>T (n.9804+17C>T)
c.9783+17C>T (n.9783+17C>T)
c.9438+17C>T (n.9438+17C>T)
c.5784+17C>T (n.5784+17C>T)
c.9678+17C>T (n.9678+17C>T)
c.9669+17C>T (n.9669+17C>T)
c.9684+17C>T (n.9684+17C>T)
c.3981+17C>T (n.3981+17C>T)
Xg.31203944G>TCA2693386841DMDc.4653+17C>A (n.4653+17C>A)
c.603+17C>A (n.603+17C>A)
n.605+17C>A
c.2427+17C>A (n.2427+17C>A)
n.1324+17C>A
n.906+17C>A
n.1325+17C>A
n.3299+17C>A
c.1662+17C>A (n.1662+17C>A)
c.9807+17C>A (n.9807+17C>A)
c.5775+17C>A (n.5775+17C>A)
c.480+17C>A (n.480+17C>A)
c.546+17C>A (n.546+17C>A)
n.737+17C>A
c.1620+17C>A (n.1620+17C>A)
c.2895+17C>A (n.2895+17C>A)
c.9795+17C>A (n.9795+17C>A)
c.177+17C>A (n.177+17C>A)
c.9792+17C>A (n.9792+17C>A)
c.9804+17C>A (n.9804+17C>A)
c.9783+17C>A (n.9783+17C>A)
c.9438+17C>A (n.9438+17C>A)
c.5784+17C>A (n.5784+17C>A)
c.9678+17C>A (n.9678+17C>A)
c.9669+17C>A (n.9669+17C>A)
c.9684+17C>A (n.9684+17C>A)
c.3981+17C>A (n.3981+17C>A)
 gnomAD v4
Xg.31203945A>TCA657804297DMDc.4653+16T>A (n.4653+16T>A)
c.603+16T>A (n.603+16T>A)
n.605+16T>A
c.2427+16T>A (n.2427+16T>A)
n.1324+16T>A
n.906+16T>A
n.1325+16T>A
n.3299+16T>A
c.1662+16T>A (n.1662+16T>A)
c.9807+16T>A (n.9807+16T>A)
c.5775+16T>A (n.5775+16T>A)
c.480+16T>A (n.480+16T>A)
c.546+16T>A (n.546+16T>A)
n.737+16T>A
c.1620+16T>A (n.1620+16T>A)
c.2895+16T>A (n.2895+16T>A)
c.9795+16T>A (n.9795+16T>A)
c.177+16T>A (n.177+16T>A)
c.9792+16T>A (n.9792+16T>A)
c.9804+16T>A (n.9804+16T>A)
c.9783+16T>A (n.9783+16T>A)
c.9438+16T>A (n.9438+16T>A)
c.5784+16T>A (n.5784+16T>A)
c.9678+16T>A (n.9678+16T>A)
c.9669+16T>A (n.9669+16T>A)
c.9684+16T>A (n.9684+16T>A)
c.3981+16T>A (n.3981+16T>A)
 COSMIC
Xg.31203946A>GCA2693386842DMDc.4653+15T>C (n.4653+15T>C)
c.603+15T>C (n.603+15T>C)
n.605+15T>C
c.2427+15T>C (n.2427+15T>C)
n.1324+15T>C
n.906+15T>C
n.1325+15T>C
n.3299+15T>C
c.1662+15T>C (n.1662+15T>C)
c.9807+15T>C (n.9807+15T>C)
c.5775+15T>C (n.5775+15T>C)
c.480+15T>C (n.480+15T>C)
c.546+15T>C (n.546+15T>C)
n.737+15T>C
c.1620+15T>C (n.1620+15T>C)
c.2895+15T>C (n.2895+15T>C)
c.9795+15T>C (n.9795+15T>C)
c.177+15T>C (n.177+15T>C)
c.9792+15T>C (n.9792+15T>C)
c.9804+15T>C (n.9804+15T>C)
c.9783+15T>C (n.9783+15T>C)
c.9438+15T>C (n.9438+15T>C)
c.5784+15T>C (n.5784+15T>C)
c.9678+15T>C (n.9678+15T>C)
c.9669+15T>C (n.9669+15T>C)
c.9684+15T>C (n.9684+15T>C)
c.3981+15T>C (n.3981+15T>C)
 gnomAD v4
Xg.31203947G>TCA2693386843DMDc.4653+14C>A (n.4653+14C>A)
c.603+14C>A (n.603+14C>A)
n.605+14C>A
c.2427+14C>A (n.2427+14C>A)
n.1324+14C>A
n.906+14C>A
n.1325+14C>A
n.3299+14C>A
c.1662+14C>A (n.1662+14C>A)
c.9807+14C>A (n.9807+14C>A)
c.5775+14C>A (n.5775+14C>A)
c.480+14C>A (n.480+14C>A)
c.546+14C>A (n.546+14C>A)
n.737+14C>A
c.1620+14C>A (n.1620+14C>A)
c.2895+14C>A (n.2895+14C>A)
c.9795+14C>A (n.9795+14C>A)
c.177+14C>A (n.177+14C>A)
c.9792+14C>A (n.9792+14C>A)
c.9804+14C>A (n.9804+14C>A)
c.9783+14C>A (n.9783+14C>A)
c.9438+14C>A (n.9438+14C>A)
c.5784+14C>A (n.5784+14C>A)
c.9678+14C>A (n.9678+14C>A)
c.9669+14C>A (n.9669+14C>A)
c.9684+14C>A (n.9684+14C>A)
c.3981+14C>A (n.3981+14C>A)
 gnomAD v4
Xg.31203948G>ACA2693386844DMDc.4653+13C>T (n.4653+13C>T)
c.603+13C>T (n.603+13C>T)
n.605+13C>T
c.2427+13C>T (n.2427+13C>T)
n.1324+13C>T
n.906+13C>T
n.1325+13C>T
n.3299+13C>T
c.1662+13C>T (n.1662+13C>T)
c.9807+13C>T (n.9807+13C>T)
c.5775+13C>T (n.5775+13C>T)
c.480+13C>T (n.480+13C>T)
c.546+13C>T (n.546+13C>T)
n.737+13C>T
c.1620+13C>T (n.1620+13C>T)
c.2895+13C>T (n.2895+13C>T)
c.9795+13C>T (n.9795+13C>T)
c.177+13C>T (n.177+13C>T)
c.9792+13C>T (n.9792+13C>T)
c.9804+13C>T (n.9804+13C>T)
c.9783+13C>T (n.9783+13C>T)
c.9438+13C>T (n.9438+13C>T)
c.5784+13C>T (n.5784+13C>T)
c.9678+13C>T (n.9678+13C>T)
c.9669+13C>T (n.9669+13C>T)
c.9684+13C>T (n.9684+13C>T)
c.3981+13C>T (n.3981+13C>T)
 ClinVar gnomAD v4
Xg.31203948G>TCA2693386845DMDc.4653+13C>A (n.4653+13C>A)
c.603+13C>A (n.603+13C>A)
n.605+13C>A
c.2427+13C>A (n.2427+13C>A)
n.1324+13C>A
n.906+13C>A
n.1325+13C>A
n.3299+13C>A
c.1662+13C>A (n.1662+13C>A)
c.9807+13C>A (n.9807+13C>A)
c.5775+13C>A (n.5775+13C>A)
c.480+13C>A (n.480+13C>A)
c.546+13C>A (n.546+13C>A)
n.737+13C>A
c.1620+13C>A (n.1620+13C>A)
c.2895+13C>A (n.2895+13C>A)
c.9795+13C>A (n.9795+13C>A)
c.177+13C>A (n.177+13C>A)
c.9792+13C>A (n.9792+13C>A)
c.9804+13C>A (n.9804+13C>A)
c.9783+13C>A (n.9783+13C>A)
c.9438+13C>A (n.9438+13C>A)
c.5784+13C>A (n.5784+13C>A)
c.9678+13C>A (n.9678+13C>A)
c.9669+13C>A (n.9669+13C>A)
c.9684+13C>A (n.9684+13C>A)
c.3981+13C>A (n.3981+13C>A)
 gnomAD v4
Xg.31203949T>CCA2693386846DMDc.4653+12A>G (n.4653+12A>G)
c.603+12A>G (n.603+12A>G)
n.605+12A>G
c.2427+12A>G (n.2427+12A>G)
n.1324+12A>G
n.906+12A>G
n.1325+12A>G
n.3299+12A>G
c.1662+12A>G (n.1662+12A>G)
c.9807+12A>G (n.9807+12A>G)
c.5775+12A>G (n.5775+12A>G)
c.480+12A>G (n.480+12A>G)
c.546+12A>G (n.546+12A>G)
n.737+12A>G
c.1620+12A>G (n.1620+12A>G)
c.2895+12A>G (n.2895+12A>G)
c.9795+12A>G (n.9795+12A>G)
c.177+12A>G (n.177+12A>G)
c.9792+12A>G (n.9792+12A>G)
c.9804+12A>G (n.9804+12A>G)
c.9783+12A>G (n.9783+12A>G)
c.9438+12A>G (n.9438+12A>G)
c.5784+12A>G (n.5784+12A>G)
c.9678+12A>G (n.9678+12A>G)
c.9669+12A>G (n.9669+12A>G)
c.9684+12A>G (n.9684+12A>G)
c.3981+12A>G (n.3981+12A>G)
 gnomAD v4
Xg.31203950G>ACA10377748DMDc.4653+11C>T (n.4653+11C>T)
c.603+11C>T (n.603+11C>T)
n.605+11C>T
c.2427+11C>T (n.2427+11C>T)
n.1324+11C>T
n.906+11C>T
n.1325+11C>T
n.3299+11C>T
c.1662+11C>T (n.1662+11C>T)
c.9807+11C>T (n.9807+11C>T)
c.5775+11C>T (n.5775+11C>T)
c.480+11C>T (n.480+11C>T)
c.546+11C>T (n.546+11C>T)
n.737+11C>T
c.1620+11C>T (n.1620+11C>T)
c.2895+11C>T (n.2895+11C>T)
c.9795+11C>T (n.9795+11C>T)
c.177+11C>T (n.177+11C>T)
c.9792+11C>T (n.9792+11C>T)
c.9804+11C>T (n.9804+11C>T)
c.9783+11C>T (n.9783+11C>T)
c.9438+11C>T (n.9438+11C>T)
c.5784+11C>T (n.5784+11C>T)
c.9678+11C>T (n.9678+11C>T)
c.9669+11C>T (n.9669+11C>T)
c.9684+11C>T (n.9684+11C>T)
c.3981+11C>T (n.3981+11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31203950G=CA2422347553DMDc.4653+11C= (n.4653+11C=)
c.603+11C= (n.603+11C=)
n.605+11C=
c.2427+11C= (n.2427+11C=)
n.1324+11C=
n.906+11C=
n.1325+11C=
n.3299+11C=
c.1662+11C= (n.1662+11C=)
c.9807+11C= (n.9807+11C=)
c.5775+11C= (n.5775+11C=)
c.480+11C= (n.480+11C=)
c.546+11C= (n.546+11C=)
n.737+11C=
c.1620+11C= (n.1620+11C=)
c.2895+11C= (n.2895+11C=)
c.9795+11C= (n.9795+11C=)
c.177+11C= (n.177+11C=)
c.9792+11C= (n.9792+11C=)
c.9804+11C= (n.9804+11C=)
c.9783+11C= (n.9783+11C=)
c.9438+11C= (n.9438+11C=)
c.5784+11C= (n.5784+11C=)
c.9678+11C= (n.9678+11C=)
c.9669+11C= (n.9669+11C=)
c.9684+11C= (n.9684+11C=)
c.3981+11C= (n.3981+11C=)
Xg.31203950G>TCA10377747DMDc.4653+11C>A (n.4653+11C>A)
c.603+11C>A (n.603+11C>A)
n.605+11C>A
c.2427+11C>A (n.2427+11C>A)
n.1324+11C>A
n.906+11C>A
n.1325+11C>A
n.3299+11C>A
c.1662+11C>A (n.1662+11C>A)
c.9807+11C>A (n.9807+11C>A)
c.5775+11C>A (n.5775+11C>A)
c.480+11C>A (n.480+11C>A)
c.546+11C>A (n.546+11C>A)
n.737+11C>A
c.1620+11C>A (n.1620+11C>A)
c.2895+11C>A (n.2895+11C>A)
c.9795+11C>A (n.9795+11C>A)
c.177+11C>A (n.177+11C>A)
c.9792+11C>A (n.9792+11C>A)
c.9804+11C>A (n.9804+11C>A)
c.9783+11C>A (n.9783+11C>A)
c.9438+11C>A (n.9438+11C>A)
c.5784+11C>A (n.5784+11C>A)
c.9678+11C>A (n.9678+11C>A)
c.9669+11C>A (n.9669+11C>A)
c.9684+11C>A (n.9684+11C>A)
c.3981+11C>A (n.3981+11C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31203951A>GCA2693386847DMDc.4653+10T>C (n.4653+10T>C)
c.603+10T>C (n.603+10T>C)
n.605+10T>C
c.2427+10T>C (n.2427+10T>C)
n.1324+10T>C
n.906+10T>C
n.1325+10T>C
n.3299+10T>C
c.1662+10T>C (n.1662+10T>C)
c.9807+10T>C (n.9807+10T>C)
c.5775+10T>C (n.5775+10T>C)
c.480+10T>C (n.480+10T>C)
c.546+10T>C (n.546+10T>C)
n.737+10T>C
c.1620+10T>C (n.1620+10T>C)
c.2895+10T>C (n.2895+10T>C)
c.9795+10T>C (n.9795+10T>C)
c.177+10T>C (n.177+10T>C)
c.9792+10T>C (n.9792+10T>C)
c.9804+10T>C (n.9804+10T>C)
c.9783+10T>C (n.9783+10T>C)
c.9438+10T>C (n.9438+10T>C)
c.5784+10T>C (n.5784+10T>C)
c.9678+10T>C (n.9678+10T>C)
c.9669+10T>C (n.9669+10T>C)
c.9684+10T>C (n.9684+10T>C)
c.3981+10T>C (n.3981+10T>C)
 gnomAD v4
Xg.31203952A>GCA2693386848DMDc.4653+9T>C (n.4653+9T>C)
c.603+9T>C (n.603+9T>C)
n.605+9T>C
c.2427+9T>C (n.2427+9T>C)
n.1324+9T>C
n.906+9T>C
n.1325+9T>C
n.3299+9T>C
c.1662+9T>C (n.1662+9T>C)
c.9807+9T>C (n.9807+9T>C)
c.5775+9T>C (n.5775+9T>C)
c.480+9T>C (n.480+9T>C)
c.546+9T>C (n.546+9T>C)
n.737+9T>C
c.1620+9T>C (n.1620+9T>C)
c.2895+9T>C (n.2895+9T>C)
c.9795+9T>C (n.9795+9T>C)
c.177+9T>C (n.177+9T>C)
c.9792+9T>C (n.9792+9T>C)
c.9804+9T>C (n.9804+9T>C)
c.9783+9T>C (n.9783+9T>C)
c.9438+9T>C (n.9438+9T>C)
c.5784+9T>C (n.5784+9T>C)
c.9678+9T>C (n.9678+9T>C)
c.9669+9T>C (n.9669+9T>C)
c.9684+9T>C (n.9684+9T>C)
c.3981+9T>C (n.3981+9T>C)
 ClinVar gnomAD v4
Xg.31203953T>ACA2739265710DMDc.4653+8A>T (n.4653+8A>T)
c.603+8A>T (n.603+8A>T)
n.605+8A>T
c.2427+8A>T (n.2427+8A>T)
n.1324+8A>T
n.906+8A>T
n.1325+8A>T
n.3299+8A>T
c.1662+8A>T (n.1662+8A>T)
c.9807+8A>T (n.9807+8A>T)
c.5775+8A>T (n.5775+8A>T)
c.480+8A>T (n.480+8A>T)
c.546+8A>T (n.546+8A>T)
n.737+8A>T
c.1620+8A>T (n.1620+8A>T)
c.2895+8A>T (n.2895+8A>T)
c.9795+8A>T (n.9795+8A>T)
c.177+8A>T (n.177+8A>T)
c.9792+8A>T (n.9792+8A>T)
c.9804+8A>T (n.9804+8A>T)
c.9783+8A>T (n.9783+8A>T)
c.9438+8A>T (n.9438+8A>T)
c.5784+8A>T (n.5784+8A>T)
c.9678+8A>T (n.9678+8A>T)
c.9669+8A>T (n.9669+8A>T)
c.9684+8A>T (n.9684+8A>T)
c.3981+8A>T (n.3981+8A>T)
 ClinVar
Xg.31203953T>CCA2422347555DMDc.4653+8A>G (n.4653+8A>G)
c.603+8A>G (n.603+8A>G)
n.605+8A>G
c.2427+8A>G (n.2427+8A>G)
n.1324+8A>G
n.906+8A>G
n.1325+8A>G
n.3299+8A>G
c.1662+8A>G (n.1662+8A>G)
c.9807+8A>G (n.9807+8A>G)
c.5775+8A>G (n.5775+8A>G)
c.480+8A>G (n.480+8A>G)
c.546+8A>G (n.546+8A>G)
n.737+8A>G
c.1620+8A>G (n.1620+8A>G)
c.2895+8A>G (n.2895+8A>G)
c.9795+8A>G (n.9795+8A>G)
c.177+8A>G (n.177+8A>G)
c.9792+8A>G (n.9792+8A>G)
c.9804+8A>G (n.9804+8A>G)
c.9783+8A>G (n.9783+8A>G)
c.9438+8A>G (n.9438+8A>G)
c.5784+8A>G (n.5784+8A>G)
c.9678+8A>G (n.9678+8A>G)
c.9669+8A>G (n.9669+8A>G)
c.9684+8A>G (n.9684+8A>G)
c.3981+8A>G (n.3981+8A>G)
 ClinVar dbSNP
Xg.31203953T>GCA2693386849DMDc.4653+8A>C (n.4653+8A>C)
c.603+8A>C (n.603+8A>C)
n.605+8A>C
c.2427+8A>C (n.2427+8A>C)
n.1324+8A>C
n.906+8A>C
n.1325+8A>C
n.3299+8A>C
c.1662+8A>C (n.1662+8A>C)
c.9807+8A>C (n.9807+8A>C)
c.5775+8A>C (n.5775+8A>C)
c.480+8A>C (n.480+8A>C)
c.546+8A>C (n.546+8A>C)
n.737+8A>C
c.1620+8A>C (n.1620+8A>C)
c.2895+8A>C (n.2895+8A>C)
c.9795+8A>C (n.9795+8A>C)
c.177+8A>C (n.177+8A>C)
c.9792+8A>C (n.9792+8A>C)
c.9804+8A>C (n.9804+8A>C)
c.9783+8A>C (n.9783+8A>C)
c.9438+8A>C (n.9438+8A>C)
c.5784+8A>C (n.5784+8A>C)
c.9678+8A>C (n.9678+8A>C)
c.9669+8A>C (n.9669+8A>C)
c.9684+8A>C (n.9684+8A>C)
c.3981+8A>C (n.3981+8A>C)
 gnomAD v4
Xg.31203953T=CA2422347554DMDc.4653+8A= (n.4653+8A=)
c.603+8A= (n.603+8A=)
n.605+8A=
c.2427+8A= (n.2427+8A=)
n.1324+8A=
n.906+8A=
n.1325+8A=
n.3299+8A=
c.1662+8A= (n.1662+8A=)
c.9807+8A= (n.9807+8A=)
c.5775+8A= (n.5775+8A=)
c.480+8A= (n.480+8A=)
c.546+8A= (n.546+8A=)
n.737+8A=
c.1620+8A= (n.1620+8A=)
c.2895+8A= (n.2895+8A=)
c.9795+8A= (n.9795+8A=)
c.177+8A= (n.177+8A=)
c.9792+8A= (n.9792+8A=)
c.9804+8A= (n.9804+8A=)
c.9783+8A= (n.9783+8A=)
c.9438+8A= (n.9438+8A=)
c.5784+8A= (n.5784+8A=)
c.9678+8A= (n.9678+8A=)
c.9669+8A= (n.9669+8A=)
c.9684+8A= (n.9684+8A=)
c.3981+8A= (n.3981+8A=)
Xg.31203956C=CA2422347556DMDc.4653+5G= (n.4653+5G=)
c.603+5G= (n.603+5G=)
n.605+5G=
c.2427+5G= (n.2427+5G=)
n.1324+5G=
n.906+5G=
n.1325+5G=
n.3299+5G=
c.1662+5G= (n.1662+5G=)
c.9807+5G= (n.9807+5G=)
c.5775+5G= (n.5775+5G=)
c.480+5G= (n.480+5G=)
c.546+5G= (n.546+5G=)
n.737+5G=
c.1620+5G= (n.1620+5G=)
c.2895+5G= (n.2895+5G=)
c.9795+5G= (n.9795+5G=)
c.177+5G= (n.177+5G=)
c.9792+5G= (n.9792+5G=)
c.9804+5G= (n.9804+5G=)
c.9783+5G= (n.9783+5G=)
c.9438+5G= (n.9438+5G=)
c.5784+5G= (n.5784+5G=)
c.9678+5G= (n.9678+5G=)
c.9669+5G= (n.9669+5G=)
c.9684+5G= (n.9684+5G=)
c.3981+5G= (n.3981+5G=)
Xg.31203956C>GCA2573158723DMDc.4653+5G>C (n.4653+5G>C)
c.603+5G>C (n.603+5G>C)
n.605+5G>C
c.2427+5G>C (n.2427+5G>C)
n.1324+5G>C
n.906+5G>C
n.1325+5G>C
n.3299+5G>C
c.1662+5G>C (n.1662+5G>C)
c.9807+5G>C (n.9807+5G>C)
c.5775+5G>C (n.5775+5G>C)
c.480+5G>C (n.480+5G>C)
c.546+5G>C (n.546+5G>C)
n.737+5G>C
c.1620+5G>C (n.1620+5G>C)
c.2895+5G>C (n.2895+5G>C)
c.9795+5G>C (n.9795+5G>C)
c.177+5G>C (n.177+5G>C)
c.9792+5G>C (n.9792+5G>C)
c.9804+5G>C (n.9804+5G>C)
c.9783+5G>C (n.9783+5G>C)
c.9438+5G>C (n.9438+5G>C)
c.5784+5G>C (n.5784+5G>C)
c.9678+5G>C (n.9678+5G>C)
c.9669+5G>C (n.9669+5G>C)
c.9684+5G>C (n.9684+5G>C)
c.3981+5G>C (n.3981+5G>C)
 ClinVar dbSNP
Xg.31203956C>TCA891843870DMDc.4653+5G>A (n.4653+5G>A)
c.603+5G>A (n.603+5G>A)
n.605+5G>A
c.2427+5G>A (n.2427+5G>A)
n.1324+5G>A
n.906+5G>A
n.1325+5G>A
n.3299+5G>A
c.1662+5G>A (n.1662+5G>A)
c.9807+5G>A (n.9807+5G>A)
c.5775+5G>A (n.5775+5G>A)
c.480+5G>A (n.480+5G>A)
c.546+5G>A (n.546+5G>A)
n.737+5G>A
c.1620+5G>A (n.1620+5G>A)
c.2895+5G>A (n.2895+5G>A)
c.9795+5G>A (n.9795+5G>A)
c.177+5G>A (n.177+5G>A)
c.9792+5G>A (n.9792+5G>A)
c.9804+5G>A (n.9804+5G>A)
c.9783+5G>A (n.9783+5G>A)
c.9438+5G>A (n.9438+5G>A)
c.5784+5G>A (n.5784+5G>A)
c.9678+5G>A (n.9678+5G>A)
c.9669+5G>A (n.9669+5G>A)
c.9684+5G>A (n.9684+5G>A)
c.3981+5G>A (n.3981+5G>A)
 ClinVar dbSNP
Xg.31203958delCA2693386850DMDc.4653+4del (n.4653+4del)
c.603+4del (n.603+4del)
n.605+4del
c.2427+4del (n.2427+4del)
n.1324+4del
n.906+4del
n.1325+4del
n.3299+4del
c.1662+4del (n.1662+4del)
c.9807+4del (n.9807+4del)
c.5775+4del (n.5775+4del)
c.480+4del (n.480+4del)
c.546+4del (n.546+4del)
n.737+4del
c.1620+4del (n.1620+4del)
c.2895+4del (n.2895+4del)
c.9795+4del (n.9795+4del)
c.177+4del (n.177+4del)
c.9792+4del (n.9792+4del)
c.9804+4del (n.9804+4del)
c.9783+4del (n.9783+4del)
c.9438+4del (n.9438+4del)
c.5784+4del (n.5784+4del)
c.9678+4del (n.9678+4del)
c.9669+4del (n.9669+4del)
c.9684+4del (n.9684+4del)
c.3981+4del (n.3981+4del)
 gnomAD v4
Xg.31203958T>GCA2695232289DMDc.4653+3A>C (n.4653+3A>C)
c.603+3A>C (n.603+3A>C)
n.605+3A>C
c.2427+3A>C (n.2427+3A>C)
n.1324+3A>C
n.906+3A>C
n.1325+3A>C
n.3299+3A>C
c.1662+3A>C (n.1662+3A>C)
c.9807+3A>C (n.9807+3A>C)
c.5775+3A>C (n.5775+3A>C)
c.480+3A>C (n.480+3A>C)
c.546+3A>C (n.546+3A>C)
n.737+3A>C
c.1620+3A>C (n.1620+3A>C)
c.2895+3A>C (n.2895+3A>C)
c.9795+3A>C (n.9795+3A>C)
c.177+3A>C (n.177+3A>C)
c.9792+3A>C (n.9792+3A>C)
c.9804+3A>C (n.9804+3A>C)
c.9783+3A>C (n.9783+3A>C)
c.9438+3A>C (n.9438+3A>C)
c.5784+3A>C (n.5784+3A>C)
c.9678+3A>C (n.9678+3A>C)
c.9669+3A>C (n.9669+3A>C)
c.9684+3A>C (n.9684+3A>C)
c.3981+3A>C (n.3981+3A>C)
Xg.31203959A=CA2422347557DMDc.4653+2T= (n.4653+2T=)
c.603+2T= (n.603+2T=)
n.605+2T=
c.2427+2T= (n.2427+2T=)
n.1324+2T=
n.906+2T=
n.1325+2T=
n.3299+2T=
c.1662+2T= (n.1662+2T=)
c.9807+2T= (n.9807+2T=)
c.5775+2T= (n.5775+2T=)
c.480+2T= (n.480+2T=)
c.546+2T= (n.546+2T=)
n.737+2T=
c.1620+2T= (n.1620+2T=)
c.2895+2T= (n.2895+2T=)
c.9795+2T= (n.9795+2T=)
c.177+2T= (n.177+2T=)
c.9792+2T= (n.9792+2T=)
c.9804+2T= (n.9804+2T=)
c.9783+2T= (n.9783+2T=)
c.9438+2T= (n.9438+2T=)
c.5784+2T= (n.5784+2T=)
c.9678+2T= (n.9678+2T=)
c.9669+2T= (n.9669+2T=)
c.9684+2T= (n.9684+2T=)
c.3981+2T= (n.3981+2T=)
Xg.31203959A>CCA412648331DMDc.4653+2T>G (n.4653+2T>G)
c.603+2T>G (n.603+2T>G)
n.605+2T>G
c.2427+2T>G (n.2427+2T>G)
n.1324+2T>G
n.906+2T>G
n.1325+2T>G
n.3299+2T>G
c.1662+2T>G (n.1662+2T>G)
c.9807+2T>G (n.9807+2T>G)
c.5775+2T>G (n.5775+2T>G)
c.480+2T>G (n.480+2T>G)
c.546+2T>G (n.546+2T>G)
n.737+2T>G
c.1620+2T>G (n.1620+2T>G)
c.2895+2T>G (n.2895+2T>G)
c.9795+2T>G (n.9795+2T>G)
c.177+2T>G (n.177+2T>G)
c.9792+2T>G (n.9792+2T>G)
c.9804+2T>G (n.9804+2T>G)
c.9783+2T>G (n.9783+2T>G)
c.9438+2T>G (n.9438+2T>G)
c.5784+2T>G (n.5784+2T>G)
c.9678+2T>G (n.9678+2T>G)
c.9669+2T>G (n.9669+2T>G)
c.9684+2T>G (n.9684+2T>G)
c.3981+2T>G (n.3981+2T>G)
 ClinVar dbSNP
Xg.31203959A>GCA412648332DMDc.4653+2T>C (n.4653+2T>C)
c.603+2T>C (n.603+2T>C)
n.605+2T>C
c.2427+2T>C (n.2427+2T>C)
n.1324+2T>C
n.906+2T>C
n.1325+2T>C
n.3299+2T>C
c.1662+2T>C (n.1662+2T>C)
c.9807+2T>C (n.9807+2T>C)
c.5775+2T>C (n.5775+2T>C)
c.480+2T>C (n.480+2T>C)
c.546+2T>C (n.546+2T>C)
n.737+2T>C
c.1620+2T>C (n.1620+2T>C)
c.2895+2T>C (n.2895+2T>C)
c.9795+2T>C (n.9795+2T>C)
c.177+2T>C (n.177+2T>C)
c.9792+2T>C (n.9792+2T>C)
c.9804+2T>C (n.9804+2T>C)
c.9783+2T>C (n.9783+2T>C)
c.9438+2T>C (n.9438+2T>C)
c.5784+2T>C (n.5784+2T>C)
c.9678+2T>C (n.9678+2T>C)
c.9669+2T>C (n.9669+2T>C)
c.9684+2T>C (n.9684+2T>C)
c.3981+2T>C (n.3981+2T>C)
Xg.31203959A>TCA412648333DMDc.4653+2T>A (n.4653+2T>A)
c.603+2T>A (n.603+2T>A)
n.605+2T>A
c.2427+2T>A (n.2427+2T>A)
n.1324+2T>A
n.906+2T>A
n.1325+2T>A
n.3299+2T>A
c.1662+2T>A (n.1662+2T>A)
c.9807+2T>A (n.9807+2T>A)
c.5775+2T>A (n.5775+2T>A)
c.480+2T>A (n.480+2T>A)
c.546+2T>A (n.546+2T>A)
n.737+2T>A
c.1620+2T>A (n.1620+2T>A)
c.2895+2T>A (n.2895+2T>A)
c.9795+2T>A (n.9795+2T>A)
c.177+2T>A (n.177+2T>A)
c.9792+2T>A (n.9792+2T>A)
c.9804+2T>A (n.9804+2T>A)
c.9783+2T>A (n.9783+2T>A)
c.9438+2T>A (n.9438+2T>A)
c.5784+2T>A (n.5784+2T>A)
c.9678+2T>A (n.9678+2T>A)
c.9669+2T>A (n.9669+2T>A)
c.9684+2T>A (n.9684+2T>A)
c.3981+2T>A (n.3981+2T>A)
 ClinVar
Xg.31203960C>ACA412648336DMDc.4653+1G>T (n.4653+1G>T)
c.603+1G>T (n.603+1G>T)
n.605+1G>T
c.2427+1G>T (n.2427+1G>T)
n.1324+1G>T
n.906+1G>T
n.1325+1G>T
n.3299+1G>T
c.1662+1G>T (n.1662+1G>T)
c.9807+1G>T (n.9807+1G>T)
c.5775+1G>T (n.5775+1G>T)
c.480+1G>T (n.480+1G>T)
c.546+1G>T (n.546+1G>T)
n.737+1G>T
c.1620+1G>T (n.1620+1G>T)
c.2895+1G>T (n.2895+1G>T)
c.9795+1G>T (n.9795+1G>T)
c.177+1G>T (n.177+1G>T)
c.9792+1G>T (n.9792+1G>T)
c.9804+1G>T (n.9804+1G>T)
c.9783+1G>T (n.9783+1G>T)
c.9438+1G>T (n.9438+1G>T)
c.5784+1G>T (n.5784+1G>T)
c.9678+1G>T (n.9678+1G>T)
c.9669+1G>T (n.9669+1G>T)
c.9684+1G>T (n.9684+1G>T)
c.3981+1G>T (n.3981+1G>T)
 ClinVar dbSNP
Xg.31203960C=CA2422347558DMDc.4653+1G= (n.4653+1G=)
c.603+1G= (n.603+1G=)
n.605+1G=
c.2427+1G= (n.2427+1G=)
n.1324+1G=
n.906+1G=
n.1325+1G=
n.3299+1G=
c.1662+1G= (n.1662+1G=)
c.9807+1G= (n.9807+1G=)
c.5775+1G= (n.5775+1G=)
c.480+1G= (n.480+1G=)
c.546+1G= (n.546+1G=)
n.737+1G=
c.1620+1G= (n.1620+1G=)
c.2895+1G= (n.2895+1G=)
c.9795+1G= (n.9795+1G=)
c.177+1G= (n.177+1G=)
c.9792+1G= (n.9792+1G=)
c.9804+1G= (n.9804+1G=)
c.9783+1G= (n.9783+1G=)
c.9438+1G= (n.9438+1G=)
c.5784+1G= (n.5784+1G=)
c.9678+1G= (n.9678+1G=)
c.9669+1G= (n.9669+1G=)
c.9684+1G= (n.9684+1G=)
c.3981+1G= (n.3981+1G=)
Xg.31203960C>GCA412648335DMDc.4653+1G>C (n.4653+1G>C)
c.603+1G>C (n.603+1G>C)
n.605+1G>C
c.2427+1G>C (n.2427+1G>C)
n.1324+1G>C
n.906+1G>C
n.1325+1G>C
n.3299+1G>C
c.1662+1G>C (n.1662+1G>C)
c.9807+1G>C (n.9807+1G>C)
c.5775+1G>C (n.5775+1G>C)
c.480+1G>C (n.480+1G>C)
c.546+1G>C (n.546+1G>C)
n.737+1G>C
c.1620+1G>C (n.1620+1G>C)
c.2895+1G>C (n.2895+1G>C)
c.9795+1G>C (n.9795+1G>C)
c.177+1G>C (n.177+1G>C)
c.9792+1G>C (n.9792+1G>C)
c.9804+1G>C (n.9804+1G>C)
c.9783+1G>C (n.9783+1G>C)
c.9438+1G>C (n.9438+1G>C)
c.5784+1G>C (n.5784+1G>C)
c.9678+1G>C (n.9678+1G>C)
c.9669+1G>C (n.9669+1G>C)
c.9684+1G>C (n.9684+1G>C)
c.3981+1G>C (n.3981+1G>C)
 ClinVar dbSNP
Xg.31203960C>TCA412648334DMDc.4653+1G>A (n.4653+1G>A)
c.603+1G>A (n.603+1G>A)
n.605+1G>A
c.2427+1G>A (n.2427+1G>A)
n.1324+1G>A
n.906+1G>A
n.1325+1G>A
n.3299+1G>A
c.1662+1G>A (n.1662+1G>A)
c.9807+1G>A (n.9807+1G>A)
c.5775+1G>A (n.5775+1G>A)
c.480+1G>A (n.480+1G>A)
c.546+1G>A (n.546+1G>A)
n.737+1G>A
c.1620+1G>A (n.1620+1G>A)
c.2895+1G>A (n.2895+1G>A)
c.9795+1G>A (n.9795+1G>A)
c.177+1G>A (n.177+1G>A)
c.9792+1G>A (n.9792+1G>A)
c.9804+1G>A (n.9804+1G>A)
c.9783+1G>A (n.9783+1G>A)
c.9438+1G>A (n.9438+1G>A)
c.5784+1G>A (n.5784+1G>A)
c.9678+1G>A (n.9678+1G>A)
c.9669+1G>A (n.9669+1G>A)
c.9684+1G>A (n.9684+1G>A)
c.3981+1G>A (n.3981+1G>A)
 ClinVar dbSNP
Xg.31203961A>CCA412648337DMDc.4653T>G (p.Phe1551Leu)
c.603T>G (p.Phe201Leu)
n.605T>G
c.2427T>G (p.Phe809Leu)
n.1324T>G
n.906T>G
n.1325T>G
n.3299T>G
c.1662T>G (p.Phe554Leu)
c.9807T>G (p.Phe3269Leu)
c.5775T>G (p.Phe1925Leu)
c.480T>G (p.Phe160Leu)
c.546T>G (p.Phe182Leu)
n.737T>G
c.1620T>G (p.Phe540Leu)
c.2895T>G (p.Phe965Leu)
c.9795T>G (p.Phe3265Leu)
c.177T>G (p.Phe59Leu)
c.9792T>G (p.Phe3264Leu)
c.9804T>G (p.Phe3268Leu)
c.9783T>G (p.Phe3261Leu)
c.9438T>G (p.Phe3146Leu)
c.5784T>G (p.Phe1928Leu)
c.9678T>G (p.Phe3226Leu)
c.9669T>G (p.Phe3223Leu)
c.9684T>G (p.Phe3228Leu)
c.3981T>G (p.Phe1327Leu)
Xg.31203961A>GCA515856831DMDc.4653T>C (p.Phe1551=)
c.603T>C (p.Phe201=)
n.605T>C
c.2427T>C (p.Phe809=)
n.1324T>C
n.906T>C
n.1325T>C
n.3299T>C
c.1662T>C (p.Phe554=)
c.9807T>C (p.Phe3269=)
c.5775T>C (p.Phe1925=)
c.480T>C (p.Phe160=)
c.546T>C (p.Phe182=)
n.737T>C
c.1620T>C (p.Phe540=)
c.2895T>C (p.Phe965=)
c.9795T>C (p.Phe3265=)
c.177T>C (p.Phe59=)
c.9792T>C (p.Phe3264=)
c.9804T>C (p.Phe3268=)
c.9783T>C (p.Phe3261=)
c.9438T>C (p.Phe3146=)
c.5784T>C (p.Phe1928=)
c.9678T>C (p.Phe3226=)
c.9669T>C (p.Phe3223=)
c.9684T>C (p.Phe3228=)
c.3981T>C (p.Phe1327=)
Xg.31203961A>TCA412648338DMDc.4653T>A (p.Phe1551Leu)
c.603T>A (p.Phe201Leu)
n.605T>A
c.2427T>A (p.Phe809Leu)
n.1324T>A
n.906T>A
n.1325T>A
n.3299T>A
c.1662T>A (p.Phe554Leu)
c.9807T>A (p.Phe3269Leu)
c.5775T>A (p.Phe1925Leu)
c.480T>A (p.Phe160Leu)
c.546T>A (p.Phe182Leu)
n.737T>A
c.1620T>A (p.Phe540Leu)
c.2895T>A (p.Phe965Leu)
c.9795T>A (p.Phe3265Leu)
c.177T>A (p.Phe59Leu)
c.9792T>A (p.Phe3264Leu)
c.9804T>A (p.Phe3268Leu)
c.9783T>A (p.Phe3261Leu)
c.9438T>A (p.Phe3146Leu)
c.5784T>A (p.Phe1928Leu)
c.9678T>A (p.Phe3226Leu)
c.9669T>A (p.Phe3223Leu)
c.9684T>A (p.Phe3228Leu)
c.3981T>A (p.Phe1327Leu)
Xg.31203962A>CCA412648339DMDc.4652T>G (p.Phe1551Cys)
c.602T>G (p.Phe201Cys)
n.604T>G
c.2426T>G (p.Phe809Cys)
n.1323T>G
n.905T>G
n.1324T>G
n.3298T>G
c.1661T>G (p.Phe554Cys)
c.9806T>G (p.Phe3269Cys)
c.5774T>G (p.Phe1925Cys)
c.479T>G (p.Phe160Cys)
c.545T>G (p.Phe182Cys)
n.736T>G
c.1619T>G (p.Phe540Cys)
c.2894T>G (p.Phe965Cys)
c.9794T>G (p.Phe3265Cys)
c.176T>G (p.Phe59Cys)
c.9791T>G (p.Phe3264Cys)
c.9803T>G (p.Phe3268Cys)
c.9782T>G (p.Phe3261Cys)
c.9437T>G (p.Phe3146Cys)
c.5783T>G (p.Phe1928Cys)
c.9677T>G (p.Phe3226Cys)
c.9668T>G (p.Phe3223Cys)
c.9683T>G (p.Phe3228Cys)
c.3980T>G (p.Phe1327Cys)
 gnomAD v4
Xg.31203962A>GCA412648340DMDc.4652T>C (p.Phe1551Ser)
c.602T>C (p.Phe201Ser)
n.604T>C
c.2426T>C (p.Phe809Ser)
n.1323T>C
n.905T>C
n.1324T>C
n.3298T>C
c.1661T>C (p.Phe554Ser)
c.9806T>C (p.Phe3269Ser)
c.5774T>C (p.Phe1925Ser)
c.479T>C (p.Phe160Ser)
c.545T>C (p.Phe182Ser)
n.736T>C
c.1619T>C (p.Phe540Ser)
c.2894T>C (p.Phe965Ser)
c.9794T>C (p.Phe3265Ser)
c.176T>C (p.Phe59Ser)
c.9791T>C (p.Phe3264Ser)
c.9803T>C (p.Phe3268Ser)
c.9782T>C (p.Phe3261Ser)
c.9437T>C (p.Phe3146Ser)
c.5783T>C (p.Phe1928Ser)
c.9677T>C (p.Phe3226Ser)
c.9668T>C (p.Phe3223Ser)
c.9683T>C (p.Phe3228Ser)
c.3980T>C (p.Phe1327Ser)
Xg.31203962A>TCA412648341DMDc.4652T>A (p.Phe1551Tyr)
c.602T>A (p.Phe201Tyr)
n.604T>A
c.2426T>A (p.Phe809Tyr)
n.1323T>A
n.905T>A
n.1324T>A
n.3298T>A
c.1661T>A (p.Phe554Tyr)
c.9806T>A (p.Phe3269Tyr)
c.5774T>A (p.Phe1925Tyr)
c.479T>A (p.Phe160Tyr)
c.545T>A (p.Phe182Tyr)
n.736T>A
c.1619T>A (p.Phe540Tyr)
c.2894T>A (p.Phe965Tyr)
c.9794T>A (p.Phe3265Tyr)
c.176T>A (p.Phe59Tyr)
c.9791T>A (p.Phe3264Tyr)
c.9803T>A (p.Phe3268Tyr)
c.9782T>A (p.Phe3261Tyr)
c.9437T>A (p.Phe3146Tyr)
c.5783T>A (p.Phe1928Tyr)
c.9677T>A (p.Phe3226Tyr)
c.9668T>A (p.Phe3223Tyr)
c.9683T>A (p.Phe3228Tyr)
c.3980T>A (p.Phe1327Tyr)
Xg.31203963A>CCA412648344DMDc.4651T>G (p.Phe1551Val)
c.601T>G (p.Phe201Val)
n.603T>G
c.2425T>G (p.Phe809Val)
n.1322T>G
n.904T>G
n.1323T>G
n.3297T>G
c.1660T>G (p.Phe554Val)
c.9805T>G (p.Phe3269Val)
c.5773T>G (p.Phe1925Val)
c.478T>G (p.Phe160Val)
c.544T>G (p.Phe182Val)
n.735T>G
c.1618T>G (p.Phe540Val)
c.2893T>G (p.Phe965Val)
c.9793T>G (p.Phe3265Val)
c.175T>G (p.Phe59Val)
c.9790T>G (p.Phe3264Val)
c.9802T>G (p.Phe3268Val)
c.9781T>G (p.Phe3261Val)
c.9436T>G (p.Phe3146Val)
c.5782T>G (p.Phe1928Val)
c.9676T>G (p.Phe3226Val)
c.9667T>G (p.Phe3223Val)
c.9682T>G (p.Phe3228Val)
c.3979T>G (p.Phe1327Val)
Xg.31203963A>GCA412648343DMDc.4651T>C (p.Phe1551Leu)
c.601T>C (p.Phe201Leu)
n.603T>C
c.2425T>C (p.Phe809Leu)
n.1322T>C
n.904T>C
n.1323T>C
n.3297T>C
c.1660T>C (p.Phe554Leu)
c.9805T>C (p.Phe3269Leu)
c.5773T>C (p.Phe1925Leu)
c.478T>C (p.Phe160Leu)
c.544T>C (p.Phe182Leu)
n.735T>C
c.1618T>C (p.Phe540Leu)
c.2893T>C (p.Phe965Leu)
c.9793T>C (p.Phe3265Leu)
c.175T>C (p.Phe59Leu)
c.9790T>C (p.Phe3264Leu)
c.9802T>C (p.Phe3268Leu)
c.9781T>C (p.Phe3261Leu)
c.9436T>C (p.Phe3146Leu)
c.5782T>C (p.Phe1928Leu)
c.9676T>C (p.Phe3226Leu)
c.9667T>C (p.Phe3223Leu)
c.9682T>C (p.Phe3228Leu)
c.3979T>C (p.Phe1327Leu)
Xg.31203963A>TCA412648342DMDc.4651T>A (p.Phe1551Ile)
c.601T>A (p.Phe201Ile)
n.603T>A
c.2425T>A (p.Phe809Ile)
n.1322T>A
n.904T>A
n.1323T>A
n.3297T>A
c.1660T>A (p.Phe554Ile)
c.9805T>A (p.Phe3269Ile)
c.5773T>A (p.Phe1925Ile)
c.478T>A (p.Phe160Ile)
c.544T>A (p.Phe182Ile)
n.735T>A
c.1618T>A (p.Phe540Ile)
c.2893T>A (p.Phe965Ile)
c.9793T>A (p.Phe3265Ile)
c.175T>A (p.Phe59Ile)
c.9790T>A (p.Phe3264Ile)
c.9802T>A (p.Phe3268Ile)
c.9781T>A (p.Phe3261Ile)
c.9436T>A (p.Phe3146Ile)
c.5782T>A (p.Phe1928Ile)
c.9676T>A (p.Phe3226Ile)
c.9667T>A (p.Phe3223Ile)
c.9682T>A (p.Phe3228Ile)
c.3979T>A (p.Phe1327Ile)
Xg.31203964T>ACA412648345DMDc.4650A>T (p.Gln1550His)
c.600A>T (p.Gln200His)
n.602A>T
c.2424A>T (p.Gln808His)
n.1321A>T
n.903A>T
n.1322A>T
n.3296A>T
c.1659A>T (p.Gln553His)
c.9804A>T (p.Gln3268His)
c.5772A>T (p.Gln1924His)
c.477A>T (p.Gln159His)
c.543A>T (p.Gln181His)
n.734A>T
c.1617A>T (p.Gln539His)
c.2892A>T (p.Gln964His)
c.9792A>T (p.Gln3264His)
c.174A>T (p.Gln58His)
c.9789A>T (p.Gln3263His)
c.9801A>T (p.Gln3267His)
c.9780A>T (p.Gln3260His)
c.9435A>T (p.Gln3145His)
c.5781A>T (p.Gln1927His)
c.9675A>T (p.Gln3225His)
c.9666A>T (p.Gln3222His)
c.9681A>T (p.Gln3227His)
c.3978A>T (p.Gln1326His)
Xg.31203964T>CCA222553DMDc.4650A>G (p.Gln1550=)
c.600A>G (p.Gln200=)
n.602A>G
c.2424A>G (p.Gln808=)
n.1321A>G
n.903A>G
n.1322A>G
n.3296A>G
c.1659A>G (p.Gln553=)
c.9804A>G (p.Gln3268=)
c.5772A>G (p.Gln1924=)
c.477A>G (p.Gln159=)
c.543A>G (p.Gln181=)
n.734A>G
c.1617A>G (p.Gln539=)
c.2892A>G (p.Gln964=)
c.9792A>G (p.Gln3264=)
c.174A>G (p.Gln58=)
c.9789A>G (p.Gln3263=)
c.9801A>G (p.Gln3267=)
c.9780A>G (p.Gln3260=)
c.9435A>G (p.Gln3145=)
c.5781A>G (p.Gln1927=)
c.9675A>G (p.Gln3225=)
c.9666A>G (p.Gln3222=)
c.9681A>G (p.Gln3227=)
c.3978A>G (p.Gln1326=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31203964T>GCA412648346DMDc.4650A>C (p.Gln1550His)
c.600A>C (p.Gln200His)
n.602A>C
c.2424A>C (p.Gln808His)
n.1321A>C
n.903A>C
n.1322A>C
n.3296A>C
c.1659A>C (p.Gln553His)
c.9804A>C (p.Gln3268His)
c.5772A>C (p.Gln1924His)
c.477A>C (p.Gln159His)
c.543A>C (p.Gln181His)
n.734A>C
c.1617A>C (p.Gln539His)
c.2892A>C (p.Gln964His)
c.9792A>C (p.Gln3264His)
c.174A>C (p.Gln58His)
c.9789A>C (p.Gln3263His)
c.9801A>C (p.Gln3267His)
c.9780A>C (p.Gln3260His)
c.9435A>C (p.Gln3145His)
c.5781A>C (p.Gln1927His)
c.9675A>C (p.Gln3225His)
c.9666A>C (p.Gln3222His)
c.9681A>C (p.Gln3227His)
c.3978A>C (p.Gln1326His)
Xg.31203964T=CA2422347559DMDc.4650A= (p.Gln1550=)
c.600A= (p.Gln200=)
n.602A=
c.2424A= (p.Gln808=)
n.1321A=
n.903A=
n.1322A=
n.3296A=
c.1659A= (p.Gln553=)
c.9804A= (p.Gln3268=)
c.5772A= (p.Gln1924=)
c.477A= (p.Gln159=)
c.543A= (p.Gln181=)
n.734A=
c.1617A= (p.Gln539=)
c.2892A= (p.Gln964=)
c.9792A= (p.Gln3264=)
c.174A= (p.Gln58=)
c.9789A= (p.Gln3263=)
c.9801A= (p.Gln3267=)
c.9780A= (p.Gln3260=)
c.9435A= (p.Gln3145=)
c.5781A= (p.Gln1927=)
c.9675A= (p.Gln3225=)
c.9666A= (p.Gln3222=)
c.9681A= (p.Gln3227=)
c.3978A= (p.Gln1326=)
Xg.31203965T>ACA412648347DMDc.4649A>T (p.Gln1550Leu)
c.599A>T (p.Gln200Leu)
n.601A>T
c.2423A>T (p.Gln808Leu)
n.1320A>T
n.902A>T
n.1321A>T
n.3295A>T
c.1658A>T (p.Gln553Leu)
c.9803A>T (p.Gln3268Leu)
c.5771A>T (p.Gln1924Leu)
c.476A>T (p.Gln159Leu)
c.542A>T (p.Gln181Leu)
n.733A>T
c.1616A>T (p.Gln539Leu)
c.2891A>T (p.Gln964Leu)
c.9791A>T (p.Gln3264Leu)
c.173A>T (p.Gln58Leu)
c.9788A>T (p.Gln3263Leu)
c.9800A>T (p.Gln3267Leu)
c.9779A>T (p.Gln3260Leu)
c.9434A>T (p.Gln3145Leu)
c.5780A>T (p.Gln1927Leu)
c.9674A>T (p.Gln3225Leu)
c.9665A>T (p.Gln3222Leu)
c.9680A>T (p.Gln3227Leu)
c.3977A>T (p.Gln1326Leu)
Xg.31203965T>CCA412648348DMDc.4649A>G (p.Gln1550Arg)
c.599A>G (p.Gln200Arg)
n.601A>G
c.2423A>G (p.Gln808Arg)
n.1320A>G
n.902A>G
n.1321A>G
n.3295A>G
c.1658A>G (p.Gln553Arg)
c.9803A>G (p.Gln3268Arg)
c.5771A>G (p.Gln1924Arg)
c.476A>G (p.Gln159Arg)
c.542A>G (p.Gln181Arg)
n.733A>G
c.1616A>G (p.Gln539Arg)
c.2891A>G (p.Gln964Arg)
c.9791A>G (p.Gln3264Arg)
c.173A>G (p.Gln58Arg)
c.9788A>G (p.Gln3263Arg)
c.9800A>G (p.Gln3267Arg)
c.9779A>G (p.Gln3260Arg)
c.9434A>G (p.Gln3145Arg)
c.5780A>G (p.Gln1927Arg)
c.9674A>G (p.Gln3225Arg)
c.9665A>G (p.Gln3222Arg)
c.9680A>G (p.Gln3227Arg)
c.3977A>G (p.Gln1326Arg)
Xg.31203965T>GCA412648349DMDc.4649A>C (p.Gln1550Pro)
c.599A>C (p.Gln200Pro)
n.601A>C
c.2423A>C (p.Gln808Pro)
n.1320A>C
n.902A>C
n.1321A>C
n.3295A>C
c.1658A>C (p.Gln553Pro)
c.9803A>C (p.Gln3268Pro)
c.5771A>C (p.Gln1924Pro)
c.476A>C (p.Gln159Pro)
c.542A>C (p.Gln181Pro)
n.733A>C
c.1616A>C (p.Gln539Pro)
c.2891A>C (p.Gln964Pro)
c.9791A>C (p.Gln3264Pro)
c.173A>C (p.Gln58Pro)
c.9788A>C (p.Gln3263Pro)
c.9800A>C (p.Gln3267Pro)
c.9779A>C (p.Gln3260Pro)
c.9434A>C (p.Gln3145Pro)
c.5780A>C (p.Gln1927Pro)
c.9674A>C (p.Gln3225Pro)
c.9665A>C (p.Gln3222Pro)
c.9680A>C (p.Gln3227Pro)
c.3977A>C (p.Gln1326Pro)
Xg.31203966G>ACA412648350DMDc.4648C>T (p.Gln1550Ter)
c.598C>T (p.Gln200Ter)
n.600C>T
c.2422C>T (p.Gln808Ter)
n.1319C>T
n.901C>T
n.1320C>T
n.3294C>T
c.1657C>T (p.Gln553Ter)
c.9802C>T (p.Gln3268Ter)
c.5770C>T (p.Gln1924Ter)
c.475C>T (p.Gln159Ter)
c.541C>T (p.Gln181Ter)
n.732C>T
c.1615C>T (p.Gln539Ter)
c.2890C>T (p.Gln964Ter)
c.9790C>T (p.Gln3264Ter)
c.172C>T (p.Gln58Ter)
c.9787C>T (p.Gln3263Ter)
c.9799C>T (p.Gln3267Ter)
c.9778C>T (p.Gln3260Ter)
c.9433C>T (p.Gln3145Ter)
c.5779C>T (p.Gln1927Ter)
c.9673C>T (p.Gln3225Ter)
c.9664C>T (p.Gln3222Ter)
c.9679C>T (p.Gln3227Ter)
c.3976C>T (p.Gln1326Ter)
Xg.31203966G>CCA412648352DMDc.4648C>G (p.Gln1550Glu)
c.598C>G (p.Gln200Glu)
n.600C>G
c.2422C>G (p.Gln808Glu)
n.1319C>G
n.901C>G
n.1320C>G
n.3294C>G
c.1657C>G (p.Gln553Glu)
c.9802C>G (p.Gln3268Glu)
c.5770C>G (p.Gln1924Glu)
c.475C>G (p.Gln159Glu)
c.541C>G (p.Gln181Glu)
n.732C>G
c.1615C>G (p.Gln539Glu)
c.2890C>G (p.Gln964Glu)
c.9790C>G (p.Gln3264Glu)
c.172C>G (p.Gln58Glu)
c.9787C>G (p.Gln3263Glu)
c.9799C>G (p.Gln3267Glu)
c.9778C>G (p.Gln3260Glu)
c.9433C>G (p.Gln3145Glu)
c.5779C>G (p.Gln1927Glu)
c.9673C>G (p.Gln3225Glu)
c.9664C>G (p.Gln3222Glu)
c.9679C>G (p.Gln3227Glu)
c.3976C>G (p.Gln1326Glu)
Xg.31203966G>TCA412648351DMDc.4648C>A (p.Gln1550Lys)
c.598C>A (p.Gln200Lys)
n.600C>A
c.2422C>A (p.Gln808Lys)
n.1319C>A
n.901C>A
n.1320C>A
n.3294C>A
c.1657C>A (p.Gln553Lys)
c.9802C>A (p.Gln3268Lys)
c.5770C>A (p.Gln1924Lys)
c.475C>A (p.Gln159Lys)
c.541C>A (p.Gln181Lys)
n.732C>A
c.1615C>A (p.Gln539Lys)
c.2890C>A (p.Gln964Lys)
c.9790C>A (p.Gln3264Lys)
c.172C>A (p.Gln58Lys)
c.9787C>A (p.Gln3263Lys)
c.9799C>A (p.Gln3267Lys)
c.9778C>A (p.Gln3260Lys)
c.9433C>A (p.Gln3145Lys)
c.5779C>A (p.Gln1927Lys)
c.9673C>A (p.Gln3225Lys)
c.9664C>A (p.Gln3222Lys)
c.9679C>A (p.Gln3227Lys)
c.3976C>A (p.Gln1326Lys)
Xg.31203967delCA2573158724DMDc.4648del (p.Gln1550AsnfsTer15)
c.598del (p.Gln200AsnfsTer15)
n.600del
c.2422del (p.Gln808AsnfsTer15)
n.1319del
n.901del
n.1320del
n.3294del
c.1657del (p.Gln553AsnfsTer15)
c.9802del (p.Gln3268AsnfsTer15)
c.5770del (p.Gln1924AsnfsTer15)
c.598del (p.Gln200AsnfsTer?)
c.475del (p.Gln159AsnfsTer15)
c.598del (p.Gln200AsnfsTer3)
c.541del (p.Gln181AsnfsTer15)
c.2422del (p.Gln808AsnfsTer?)
c.598del (p.Gln200AsnfsTer16)
n.732del
c.1615del (p.Gln539AsnfsTer15)
c.2890del (p.Gln964AsnfsTer15)
c.9790del (p.Gln3264AsnfsTer15)
c.172del (p.Gln58AsnfsTer15)
c.9787del (p.Gln3263AsnfsTer15)
c.9799del (p.Gln3267AsnfsTer15)
c.9778del (p.Gln3260AsnfsTer15)
c.9433del (p.Gln3145AsnfsTer15)
c.5779del (p.Gln1927AsnfsTer15)
c.9673del (p.Gln3225AsnfsTer15)
c.9664del (p.Gln3222AsnfsTer15)
c.9679del (p.Gln3227AsnfsTer15)
c.9802del (p.Gln3268AsnfsTer16)
c.3976del (p.Gln1326AsnfsTer15)
 ClinVar dbSNP
Xg.31203967G>ACA515856834DMDc.4647C>T (p.Phe1549=)
c.597C>T (p.Phe199=)
n.599C>T
c.2421C>T (p.Phe807=)
n.1318C>T
n.900C>T
n.1319C>T
n.3293C>T
c.1656C>T (p.Phe552=)
c.9801C>T (p.Phe3267=)
c.5769C>T (p.Phe1923=)
c.474C>T (p.Phe158=)
c.540C>T (p.Phe180=)
n.731C>T
c.1614C>T (p.Phe538=)
c.2889C>T (p.Phe963=)
c.9789C>T (p.Phe3263=)
c.171C>T (p.Phe57=)
c.9786C>T (p.Phe3262=)
c.9798C>T (p.Phe3266=)
c.9777C>T (p.Phe3259=)
c.9432C>T (p.Phe3144=)
c.5778C>T (p.Phe1926=)
c.9672C>T (p.Phe3224=)
c.9663C>T (p.Phe3221=)
c.9678C>T (p.Phe3226=)
c.3975C>T (p.Phe1325=)
Xg.31203967G>CCA412648353DMDc.4647C>G (p.Phe1549Leu)
c.597C>G (p.Phe199Leu)
n.599C>G
c.2421C>G (p.Phe807Leu)
n.1318C>G
n.900C>G
n.1319C>G
n.3293C>G
c.1656C>G (p.Phe552Leu)
c.9801C>G (p.Phe3267Leu)
c.5769C>G (p.Phe1923Leu)
c.474C>G (p.Phe158Leu)
c.540C>G (p.Phe180Leu)
n.731C>G
c.1614C>G (p.Phe538Leu)
c.2889C>G (p.Phe963Leu)
c.9789C>G (p.Phe3263Leu)
c.171C>G (p.Phe57Leu)
c.9786C>G (p.Phe3262Leu)
c.9798C>G (p.Phe3266Leu)
c.9777C>G (p.Phe3259Leu)
c.9432C>G (p.Phe3144Leu)
c.5778C>G (p.Phe1926Leu)
c.9672C>G (p.Phe3224Leu)
c.9663C>G (p.Phe3221Leu)
c.9678C>G (p.Phe3226Leu)
c.3975C>G (p.Phe1325Leu)
Xg.31203967G>TCA412648354DMDc.4647C>A (p.Phe1549Leu)
c.597C>A (p.Phe199Leu)
n.599C>A
c.2421C>A (p.Phe807Leu)
n.1318C>A
n.900C>A
n.1319C>A
n.3293C>A
c.1656C>A (p.Phe552Leu)
c.9801C>A (p.Phe3267Leu)
c.5769C>A (p.Phe1923Leu)
c.474C>A (p.Phe158Leu)
c.540C>A (p.Phe180Leu)
n.731C>A
c.1614C>A (p.Phe538Leu)
c.2889C>A (p.Phe963Leu)
c.9789C>A (p.Phe3263Leu)
c.171C>A (p.Phe57Leu)
c.9786C>A (p.Phe3262Leu)
c.9798C>A (p.Phe3266Leu)
c.9777C>A (p.Phe3259Leu)
c.9432C>A (p.Phe3144Leu)
c.5778C>A (p.Phe1926Leu)
c.9672C>A (p.Phe3224Leu)
c.9663C>A (p.Phe3221Leu)
c.9678C>A (p.Phe3226Leu)
c.3975C>A (p.Phe1325Leu)
Xg.31203968A>CCA412648355DMDc.4646T>G (p.Phe1549Cys)
c.596T>G (p.Phe199Cys)
n.598T>G
c.2420T>G (p.Phe807Cys)
n.1317T>G
n.899T>G
n.1318T>G
n.3292T>G
c.1655T>G (p.Phe552Cys)
c.9800T>G (p.Phe3267Cys)
c.5768T>G (p.Phe1923Cys)
c.473T>G (p.Phe158Cys)
c.539T>G (p.Phe180Cys)
n.730T>G
c.1613T>G (p.Phe538Cys)
c.2888T>G (p.Phe963Cys)
c.9788T>G (p.Phe3263Cys)
c.170T>G (p.Phe57Cys)
c.9785T>G (p.Phe3262Cys)
c.9797T>G (p.Phe3266Cys)
c.9776T>G (p.Phe3259Cys)
c.9431T>G (p.Phe3144Cys)
c.5777T>G (p.Phe1926Cys)
c.9671T>G (p.Phe3224Cys)
c.9662T>G (p.Phe3221Cys)
c.9677T>G (p.Phe3226Cys)
c.3974T>G (p.Phe1325Cys)
Xg.31203968A>GCA412648356DMDc.4646T>C (p.Phe1549Ser)
c.596T>C (p.Phe199Ser)
n.598T>C
c.2420T>C (p.Phe807Ser)
n.1317T>C
n.899T>C
n.1318T>C
n.3292T>C
c.1655T>C (p.Phe552Ser)
c.9800T>C (p.Phe3267Ser)
c.5768T>C (p.Phe1923Ser)
c.473T>C (p.Phe158Ser)
c.539T>C (p.Phe180Ser)
n.730T>C
c.1613T>C (p.Phe538Ser)
c.2888T>C (p.Phe963Ser)
c.9788T>C (p.Phe3263Ser)
c.170T>C (p.Phe57Ser)
c.9785T>C (p.Phe3262Ser)
c.9797T>C (p.Phe3266Ser)
c.9776T>C (p.Phe3259Ser)
c.9431T>C (p.Phe3144Ser)
c.5777T>C (p.Phe1926Ser)
c.9671T>C (p.Phe3224Ser)
c.9662T>C (p.Phe3221Ser)
c.9677T>C (p.Phe3226Ser)
c.3974T>C (p.Phe1325Ser)
Xg.31203968A>TCA412648357DMDc.4646T>A (p.Phe1549Tyr)
c.596T>A (p.Phe199Tyr)
n.598T>A
c.2420T>A (p.Phe807Tyr)
n.1317T>A
n.899T>A
n.1318T>A
n.3292T>A
c.1655T>A (p.Phe552Tyr)
c.9800T>A (p.Phe3267Tyr)
c.5768T>A (p.Phe1923Tyr)
c.473T>A (p.Phe158Tyr)
c.539T>A (p.Phe180Tyr)
n.730T>A
c.1613T>A (p.Phe538Tyr)
c.2888T>A (p.Phe963Tyr)
c.9788T>A (p.Phe3263Tyr)
c.170T>A (p.Phe57Tyr)
c.9785T>A (p.Phe3262Tyr)
c.9797T>A (p.Phe3266Tyr)
c.9776T>A (p.Phe3259Tyr)
c.9431T>A (p.Phe3144Tyr)
c.5777T>A (p.Phe1926Tyr)
c.9671T>A (p.Phe3224Tyr)
c.9662T>A (p.Phe3221Tyr)
c.9677T>A (p.Phe3226Tyr)
c.3974T>A (p.Phe1325Tyr)
Xg.31203969A>CCA412648358DMDc.4645T>G (p.Phe1549Val)
c.595T>G (p.Phe199Val)
n.597T>G
c.2419T>G (p.Phe807Val)
n.1316T>G
n.898T>G
n.1317T>G
n.3291T>G
c.1654T>G (p.Phe552Val)
c.9799T>G (p.Phe3267Val)
c.5767T>G (p.Phe1923Val)
c.472T>G (p.Phe158Val)
c.538T>G (p.Phe180Val)
n.729T>G
c.1612T>G (p.Phe538Val)
c.2887T>G (p.Phe963Val)
c.9787T>G (p.Phe3263Val)
c.169T>G (p.Phe57Val)
c.9784T>G (p.Phe3262Val)
c.9796T>G (p.Phe3266Val)
c.9775T>G (p.Phe3259Val)
c.9430T>G (p.Phe3144Val)
c.5776T>G (p.Phe1926Val)
c.9670T>G (p.Phe3224Val)
c.9661T>G (p.Phe3221Val)
c.9676T>G (p.Phe3226Val)
c.3973T>G (p.Phe1325Val)
Xg.31203969A>GCA412648359DMDc.4645T>C (p.Phe1549Leu)
c.595T>C (p.Phe199Leu)
n.597T>C
c.2419T>C (p.Phe807Leu)
n.1316T>C
n.898T>C
n.1317T>C
n.3291T>C
c.1654T>C (p.Phe552Leu)
c.9799T>C (p.Phe3267Leu)
c.5767T>C (p.Phe1923Leu)
c.472T>C (p.Phe158Leu)
c.538T>C (p.Phe180Leu)
n.729T>C
c.1612T>C (p.Phe538Leu)
c.2887T>C (p.Phe963Leu)
c.9787T>C (p.Phe3263Leu)
c.169T>C (p.Phe57Leu)
c.9784T>C (p.Phe3262Leu)
c.9796T>C (p.Phe3266Leu)
c.9775T>C (p.Phe3259Leu)
c.9430T>C (p.Phe3144Leu)
c.5776T>C (p.Phe1926Leu)
c.9670T>C (p.Phe3224Leu)
c.9661T>C (p.Phe3221Leu)
c.9676T>C (p.Phe3226Leu)
c.3973T>C (p.Phe1325Leu)
Xg.31203969A>TCA412648360DMDc.4645T>A (p.Phe1549Ile)
c.595T>A (p.Phe199Ile)
n.597T>A
c.2419T>A (p.Phe807Ile)
n.1316T>A
n.898T>A
n.1317T>A
n.3291T>A
c.1654T>A (p.Phe552Ile)
c.9799T>A (p.Phe3267Ile)
c.5767T>A (p.Phe1923Ile)
c.472T>A (p.Phe158Ile)
c.538T>A (p.Phe180Ile)
n.729T>A
c.1612T>A (p.Phe538Ile)
c.2887T>A (p.Phe963Ile)
c.9787T>A (p.Phe3263Ile)
c.169T>A (p.Phe57Ile)
c.9784T>A (p.Phe3262Ile)
c.9796T>A (p.Phe3266Ile)
c.9775T>A (p.Phe3259Ile)
c.9430T>A (p.Phe3144Ile)
c.5776T>A (p.Phe1926Ile)
c.9670T>A (p.Phe3224Ile)
c.9661T>A (p.Phe3221Ile)
c.9676T>A (p.Phe3226Ile)
c.3973T>A (p.Phe1325Ile)
Xg.31203970G>ACA515856839DMDc.4644C>T (p.Cys1548=)
c.594C>T (p.Cys198=)
n.596C>T
c.2418C>T (p.Cys806=)
n.1315C>T
n.897C>T
n.1316C>T
n.3290C>T
c.1653C>T (p.Cys551=)
c.9798C>T (p.Cys3266=)
c.5766C>T (p.Cys1922=)
c.471C>T (p.Cys157=)
c.537C>T (p.Cys179=)
n.728C>T
c.1611C>T (p.Cys537=)
c.2886C>T (p.Cys962=)
c.9786C>T (p.Cys3262=)
c.168C>T (p.Cys56=)
c.9783C>T (p.Cys3261=)
c.9795C>T (p.Cys3265=)
c.9774C>T (p.Cys3258=)
c.9429C>T (p.Cys3143=)
c.5775C>T (p.Cys1925=)
c.9669C>T (p.Cys3223=)
c.9660C>T (p.Cys3220=)
c.9675C>T (p.Cys3225=)
c.3972C>T (p.Cys1324=)
 ClinVar
Xg.31203970G>CCA412648361DMDc.4644C>G (p.Cys1548Trp)
c.594C>G (p.Cys198Trp)
n.596C>G
c.2418C>G (p.Cys806Trp)
n.1315C>G
n.897C>G
n.1316C>G
n.3290C>G
c.1653C>G (p.Cys551Trp)
c.9798C>G (p.Cys3266Trp)
c.5766C>G (p.Cys1922Trp)
c.471C>G (p.Cys157Trp)
c.537C>G (p.Cys179Trp)
n.728C>G
c.1611C>G (p.Cys537Trp)
c.2886C>G (p.Cys962Trp)
c.9786C>G (p.Cys3262Trp)
c.168C>G (p.Cys56Trp)
c.9783C>G (p.Cys3261Trp)
c.9795C>G (p.Cys3265Trp)
c.9774C>G (p.Cys3258Trp)
c.9429C>G (p.Cys3143Trp)
c.5775C>G (p.Cys1925Trp)
c.9669C>G (p.Cys3223Trp)
c.9660C>G (p.Cys3220Trp)
c.9675C>G (p.Cys3225Trp)
c.3972C>G (p.Cys1324Trp)
Xg.31203970G>TCA412648362DMDc.4644C>A (p.Cys1548Ter)
c.594C>A (p.Cys198Ter)
n.596C>A
c.2418C>A (p.Cys806Ter)
n.1315C>A
n.897C>A
n.1316C>A
n.3290C>A
c.1653C>A (p.Cys551Ter)
c.9798C>A (p.Cys3266Ter)
c.5766C>A (p.Cys1922Ter)
c.471C>A (p.Cys157Ter)
c.537C>A (p.Cys179Ter)
n.728C>A
c.1611C>A (p.Cys537Ter)
c.2886C>A (p.Cys962Ter)
c.9786C>A (p.Cys3262Ter)
c.168C>A (p.Cys56Ter)
c.9783C>A (p.Cys3261Ter)
c.9795C>A (p.Cys3265Ter)
c.9774C>A (p.Cys3258Ter)
c.9429C>A (p.Cys3143Ter)
c.5775C>A (p.Cys1925Ter)
c.9669C>A (p.Cys3223Ter)
c.9660C>A (p.Cys3220Ter)
c.9675C>A (p.Cys3225Ter)
c.3972C>A (p.Cys1324Ter)
 gnomAD v4
Xg.31203971C>ACA412648365DMDc.4643G>T (p.Cys1548Phe)
c.593G>T (p.Cys198Phe)
n.595G>T
c.2417G>T (p.Cys806Phe)
n.1314G>T
n.896G>T
n.1315G>T
n.3289G>T
c.1652G>T (p.Cys551Phe)
c.9797G>T (p.Cys3266Phe)
c.5765G>T (p.Cys1922Phe)
c.470G>T (p.Cys157Phe)
c.536G>T (p.Cys179Phe)
n.727G>T
c.1610G>T (p.Cys537Phe)
c.2885G>T (p.Cys962Phe)
c.9785G>T (p.Cys3262Phe)
c.167G>T (p.Cys56Phe)
c.9782G>T (p.Cys3261Phe)
c.9794G>T (p.Cys3265Phe)
c.9773G>T (p.Cys3258Phe)
c.9428G>T (p.Cys3143Phe)
c.5774G>T (p.Cys1925Phe)
c.9668G>T (p.Cys3223Phe)
c.9659G>T (p.Cys3220Phe)
c.9674G>T (p.Cys3225Phe)
c.3971G>T (p.Cys1324Phe)
Xg.31203971C>GCA412648364DMDc.4643G>C (p.Cys1548Ser)
c.593G>C (p.Cys198Ser)
n.595G>C
c.2417G>C (p.Cys806Ser)
n.1314G>C
n.896G>C
n.1315G>C
n.3289G>C
c.1652G>C (p.Cys551Ser)
c.9797G>C (p.Cys3266Ser)
c.5765G>C (p.Cys1922Ser)
c.470G>C (p.Cys157Ser)
c.536G>C (p.Cys179Ser)
n.727G>C
c.1610G>C (p.Cys537Ser)
c.2885G>C (p.Cys962Ser)
c.9785G>C (p.Cys3262Ser)
c.167G>C (p.Cys56Ser)
c.9782G>C (p.Cys3261Ser)
c.9794G>C (p.Cys3265Ser)
c.9773G>C (p.Cys3258Ser)
c.9428G>C (p.Cys3143Ser)
c.5774G>C (p.Cys1925Ser)
c.9668G>C (p.Cys3223Ser)
c.9659G>C (p.Cys3220Ser)
c.9674G>C (p.Cys3225Ser)
c.3971G>C (p.Cys1324Ser)
Xg.31203971C>TCA412648363DMDc.4643G>A (p.Cys1548Tyr)
c.593G>A (p.Cys198Tyr)
n.595G>A
c.2417G>A (p.Cys806Tyr)
n.1314G>A
n.896G>A
n.1315G>A
n.3289G>A
c.1652G>A (p.Cys551Tyr)
c.9797G>A (p.Cys3266Tyr)
c.5765G>A (p.Cys1922Tyr)
c.470G>A (p.Cys157Tyr)
c.536G>A (p.Cys179Tyr)
n.727G>A
c.1610G>A (p.Cys537Tyr)
c.2885G>A (p.Cys962Tyr)
c.9785G>A (p.Cys3262Tyr)
c.167G>A (p.Cys56Tyr)
c.9782G>A (p.Cys3261Tyr)
c.9794G>A (p.Cys3265Tyr)
c.9773G>A (p.Cys3258Tyr)
c.9428G>A (p.Cys3143Tyr)
c.5774G>A (p.Cys1925Tyr)
c.9668G>A (p.Cys3223Tyr)
c.9659G>A (p.Cys3220Tyr)
c.9674G>A (p.Cys3225Tyr)
c.3971G>A (p.Cys1324Tyr)
Xg.31203972A>CCA412648366DMDc.4642T>G (p.Cys1548Gly)
c.592T>G (p.Cys198Gly)
n.594T>G
c.2416T>G (p.Cys806Gly)
n.1313T>G
n.895T>G
n.1314T>G
n.3288T>G
c.1651T>G (p.Cys551Gly)
c.9796T>G (p.Cys3266Gly)
c.5764T>G (p.Cys1922Gly)
c.469T>G (p.Cys157Gly)
c.535T>G (p.Cys179Gly)
n.726T>G
c.1609T>G (p.Cys537Gly)
c.2884T>G (p.Cys962Gly)
c.9784T>G (p.Cys3262Gly)
c.166T>G (p.Cys56Gly)
c.9781T>G (p.Cys3261Gly)
c.9793T>G (p.Cys3265Gly)
c.9772T>G (p.Cys3258Gly)
c.9427T>G (p.Cys3143Gly)
c.5773T>G (p.Cys1925Gly)
c.9667T>G (p.Cys3223Gly)
c.9658T>G (p.Cys3220Gly)
c.9673T>G (p.Cys3225Gly)
c.3970T>G (p.Cys1324Gly)
Xg.31203972A>GCA412648368DMDc.4642T>C (p.Cys1548Arg)
c.592T>C (p.Cys198Arg)
n.594T>C
c.2416T>C (p.Cys806Arg)
n.1313T>C
n.895T>C
n.1314T>C
n.3288T>C
c.1651T>C (p.Cys551Arg)
c.9796T>C (p.Cys3266Arg)
c.5764T>C (p.Cys1922Arg)
c.469T>C (p.Cys157Arg)
c.535T>C (p.Cys179Arg)
n.726T>C
c.1609T>C (p.Cys537Arg)
c.2884T>C (p.Cys962Arg)
c.9784T>C (p.Cys3262Arg)
c.166T>C (p.Cys56Arg)
c.9781T>C (p.Cys3261Arg)
c.9793T>C (p.Cys3265Arg)
c.9772T>C (p.Cys3258Arg)
c.9427T>C (p.Cys3143Arg)
c.5773T>C (p.Cys1925Arg)
c.9667T>C (p.Cys3223Arg)
c.9658T>C (p.Cys3220Arg)
c.9673T>C (p.Cys3225Arg)
c.3970T>C (p.Cys1324Arg)
Xg.31203972A>TCA412648367DMDc.4642T>A (p.Cys1548Ser)
c.592T>A (p.Cys198Ser)
n.594T>A
c.2416T>A (p.Cys806Ser)
n.1313T>A
n.895T>A
n.1314T>A
n.3288T>A
c.1651T>A (p.Cys551Ser)
c.9796T>A (p.Cys3266Ser)
c.5764T>A (p.Cys1922Ser)
c.469T>A (p.Cys157Ser)
c.535T>A (p.Cys179Ser)
n.726T>A
c.1609T>A (p.Cys537Ser)
c.2884T>A (p.Cys962Ser)
c.9784T>A (p.Cys3262Ser)
c.166T>A (p.Cys56Ser)
c.9781T>A (p.Cys3261Ser)
c.9793T>A (p.Cys3265Ser)
c.9772T>A (p.Cys3258Ser)
c.9427T>A (p.Cys3143Ser)
c.5773T>A (p.Cys1925Ser)
c.9667T>A (p.Cys3223Ser)
c.9658T>A (p.Cys3220Ser)
c.9673T>A (p.Cys3225Ser)
c.3970T>A (p.Cys1324Ser)
Xg.31203973G>ACA515856841DMDc.4641C>T (p.Ser1547=)
c.591C>T (p.Ser197=)
n.593C>T
c.2415C>T (p.Ser805=)
n.1312C>T
n.894C>T
n.1313C>T
n.3287C>T
c.1650C>T (p.Ser550=)
c.9795C>T (p.Ser3265=)
c.5763C>T (p.Ser1921=)
c.468C>T (p.Ser156=)
c.534C>T (p.Ser178=)
n.725C>T
c.1608C>T (p.Ser536=)
c.2883C>T (p.Ser961=)
c.9783C>T (p.Ser3261=)
c.165C>T (p.Ser55=)
c.9780C>T (p.Ser3260=)
c.9792C>T (p.Ser3264=)
c.9771C>T (p.Ser3257=)
c.9426C>T (p.Ser3142=)
c.5772C>T (p.Ser1924=)
c.9666C>T (p.Ser3222=)
c.9657C>T (p.Ser3219=)
c.9672C>T (p.Ser3224=)
c.3969C>T (p.Ser1323=)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31203973G>CCA412648369DMDc.4641C>G (p.Ser1547Arg)
c.591C>G (p.Ser197Arg)
n.593C>G
c.2415C>G (p.Ser805Arg)
n.1312C>G
n.894C>G
n.1313C>G
n.3287C>G
c.1650C>G (p.Ser550Arg)
c.9795C>G (p.Ser3265Arg)
c.5763C>G (p.Ser1921Arg)
c.468C>G (p.Ser156Arg)
c.534C>G (p.Ser178Arg)
n.725C>G
c.1608C>G (p.Ser536Arg)
c.2883C>G (p.Ser961Arg)
c.9783C>G (p.Ser3261Arg)
c.165C>G (p.Ser55Arg)
c.9780C>G (p.Ser3260Arg)
c.9792C>G (p.Ser3264Arg)
c.9771C>G (p.Ser3257Arg)
c.9426C>G (p.Ser3142Arg)
c.5772C>G (p.Ser1924Arg)
c.9666C>G (p.Ser3222Arg)
c.9657C>G (p.Ser3219Arg)
c.9672C>G (p.Ser3224Arg)
c.3969C>G (p.Ser1323Arg)
Xg.31203973G>TCA412648370DMDc.4641C>A (p.Ser1547Arg)
c.591C>A (p.Ser197Arg)
n.593C>A
c.2415C>A (p.Ser805Arg)
n.1312C>A
n.894C>A
n.1313C>A
n.3287C>A
c.1650C>A (p.Ser550Arg)
c.9795C>A (p.Ser3265Arg)
c.5763C>A (p.Ser1921Arg)
c.468C>A (p.Ser156Arg)
c.534C>A (p.Ser178Arg)
n.725C>A
c.1608C>A (p.Ser536Arg)
c.2883C>A (p.Ser961Arg)
c.9783C>A (p.Ser3261Arg)
c.165C>A (p.Ser55Arg)
c.9780C>A (p.Ser3260Arg)
c.9792C>A (p.Ser3264Arg)
c.9771C>A (p.Ser3257Arg)
c.9426C>A (p.Ser3142Arg)
c.5772C>A (p.Ser1924Arg)
c.9666C>A (p.Ser3222Arg)
c.9657C>A (p.Ser3219Arg)
c.9672C>A (p.Ser3224Arg)
c.3969C>A (p.Ser1323Arg)
 gnomAD v4
Xg.31203974C>ACA412648371DMDc.4640G>T (p.Ser1547Ile)
c.590G>T (p.Ser197Ile)
n.592G>T
c.2414G>T (p.Ser805Ile)
n.1311G>T
n.893G>T
n.1312G>T
n.3286G>T
c.1649G>T (p.Ser550Ile)
c.9794G>T (p.Ser3265Ile)
c.5762G>T (p.Ser1921Ile)
c.467G>T (p.Ser156Ile)
c.533G>T (p.Ser178Ile)
n.724G>T
c.1607G>T (p.Ser536Ile)
c.2882G>T (p.Ser961Ile)
c.9782G>T (p.Ser3261Ile)
c.164G>T (p.Ser55Ile)
c.9779G>T (p.Ser3260Ile)
c.9791G>T (p.Ser3264Ile)
c.9770G>T (p.Ser3257Ile)
c.9425G>T (p.Ser3142Ile)
c.5771G>T (p.Ser1924Ile)
c.9665G>T (p.Ser3222Ile)
c.9656G>T (p.Ser3219Ile)
c.9671G>T (p.Ser3224Ile)
c.3968G>T (p.Ser1323Ile)
Xg.31203974C>GCA412648373DMDc.4640G>C (p.Ser1547Thr)
c.590G>C (p.Ser197Thr)
n.592G>C
c.2414G>C (p.Ser805Thr)
n.1311G>C
n.893G>C
n.1312G>C
n.3286G>C
c.1649G>C (p.Ser550Thr)
c.9794G>C (p.Ser3265Thr)
c.5762G>C (p.Ser1921Thr)
c.467G>C (p.Ser156Thr)
c.533G>C (p.Ser178Thr)
n.724G>C
c.1607G>C (p.Ser536Thr)
c.2882G>C (p.Ser961Thr)
c.9782G>C (p.Ser3261Thr)
c.164G>C (p.Ser55Thr)
c.9779G>C (p.Ser3260Thr)
c.9791G>C (p.Ser3264Thr)
c.9770G>C (p.Ser3257Thr)
c.9425G>C (p.Ser3142Thr)
c.5771G>C (p.Ser1924Thr)
c.9665G>C (p.Ser3222Thr)
c.9656G>C (p.Ser3219Thr)
c.9671G>C (p.Ser3224Thr)
c.3968G>C (p.Ser1323Thr)
Xg.31203974C>TCA412648372DMDc.4640G>A (p.Ser1547Asn)
c.590G>A (p.Ser197Asn)
n.592G>A
c.2414G>A (p.Ser805Asn)
n.1311G>A
n.893G>A
n.1312G>A
n.3286G>A
c.1649G>A (p.Ser550Asn)
c.9794G>A (p.Ser3265Asn)
c.5762G>A (p.Ser1921Asn)
c.467G>A (p.Ser156Asn)
c.533G>A (p.Ser178Asn)
n.724G>A
c.1607G>A (p.Ser536Asn)
c.2882G>A (p.Ser961Asn)
c.9782G>A (p.Ser3261Asn)
c.164G>A (p.Ser55Asn)
c.9779G>A (p.Ser3260Asn)
c.9791G>A (p.Ser3264Asn)
c.9770G>A (p.Ser3257Asn)
c.9425G>A (p.Ser3142Asn)
c.5771G>A (p.Ser1924Asn)
c.9665G>A (p.Ser3222Asn)
c.9656G>A (p.Ser3219Asn)
c.9671G>A (p.Ser3224Asn)
c.3968G>A (p.Ser1323Asn)
Xg.31203975T>ACA412648374DMDc.4639A>T (p.Ser1547Cys)
c.589A>T (p.Ser197Cys)
n.591A>T
c.2413A>T (p.Ser805Cys)
n.1310A>T
n.892A>T
n.1311A>T
n.3285A>T
c.1648A>T (p.Ser550Cys)
c.9793A>T (p.Ser3265Cys)
c.5761A>T (p.Ser1921Cys)
c.466A>T (p.Ser156Cys)
c.532A>T (p.Ser178Cys)
n.723A>T
c.1606A>T (p.Ser536Cys)
c.2881A>T (p.Ser961Cys)
c.9781A>T (p.Ser3261Cys)
c.163A>T (p.Ser55Cys)
c.9778A>T (p.Ser3260Cys)
c.9790A>T (p.Ser3264Cys)
c.9769A>T (p.Ser3257Cys)
c.9424A>T (p.Ser3142Cys)
c.5770A>T (p.Ser1924Cys)
c.9664A>T (p.Ser3222Cys)
c.9655A>T (p.Ser3219Cys)
c.9670A>T (p.Ser3224Cys)
c.3967A>T (p.Ser1323Cys)
Xg.31203975T>CCA412648375DMDc.4639A>G (p.Ser1547Gly)
c.589A>G (p.Ser197Gly)
n.591A>G
c.2413A>G (p.Ser805Gly)
n.1310A>G
n.892A>G
n.1311A>G
n.3285A>G
c.1648A>G (p.Ser550Gly)
c.9793A>G (p.Ser3265Gly)
c.5761A>G (p.Ser1921Gly)
c.466A>G (p.Ser156Gly)
c.532A>G (p.Ser178Gly)
n.723A>G
c.1606A>G (p.Ser536Gly)
c.2881A>G (p.Ser961Gly)
c.9781A>G (p.Ser3261Gly)
c.163A>G (p.Ser55Gly)
c.9778A>G (p.Ser3260Gly)
c.9790A>G (p.Ser3264Gly)
c.9769A>G (p.Ser3257Gly)
c.9424A>G (p.Ser3142Gly)
c.5770A>G (p.Ser1924Gly)
c.9664A>G (p.Ser3222Gly)
c.9655A>G (p.Ser3219Gly)
c.9670A>G (p.Ser3224Gly)
c.3967A>G (p.Ser1323Gly)
Xg.31203975T>GCA412648376DMDc.4639A>C (p.Ser1547Arg)
c.589A>C (p.Ser197Arg)
n.591A>C
c.2413A>C (p.Ser805Arg)
n.1310A>C
n.892A>C
n.1311A>C
n.3285A>C
c.1648A>C (p.Ser550Arg)
c.9793A>C (p.Ser3265Arg)
c.5761A>C (p.Ser1921Arg)
c.466A>C (p.Ser156Arg)
c.532A>C (p.Ser178Arg)
n.723A>C
c.1606A>C (p.Ser536Arg)
c.2881A>C (p.Ser961Arg)
c.9781A>C (p.Ser3261Arg)
c.163A>C (p.Ser55Arg)
c.9778A>C (p.Ser3260Arg)
c.9790A>C (p.Ser3264Arg)
c.9769A>C (p.Ser3257Arg)
c.9424A>C (p.Ser3142Arg)
c.5770A>C (p.Ser1924Arg)
c.9664A>C (p.Ser3222Arg)
c.9655A>C (p.Ser3219Arg)
c.9670A>C (p.Ser3224Arg)
c.3967A>C (p.Ser1323Arg)
Xg.31203976C>ACA515856843DMDc.4638G>T (p.Arg1546=)
c.588G>T (p.Arg196=)
n.590G>T
c.2412G>T (p.Arg804=)
n.1309G>T
n.891G>T
n.1310G>T
n.3284G>T
c.1647G>T (p.Arg549=)
c.9792G>T (p.Arg3264=)
c.5760G>T (p.Arg1920=)
c.465G>T (p.Arg155=)
c.531G>T (p.Arg177=)
n.722G>T
c.1605G>T (p.Arg535=)
c.2880G>T (p.Arg960=)
c.9780G>T (p.Arg3260=)
c.162G>T (p.Arg54=)
c.9777G>T (p.Arg3259=)
c.9789G>T (p.Arg3263=)
c.9768G>T (p.Arg3256=)
c.9423G>T (p.Arg3141=)
c.5769G>T (p.Arg1923=)
c.9663G>T (p.Arg3221=)
c.9654G>T (p.Arg3218=)
c.9669G>T (p.Arg3223=)
c.3966G>T (p.Arg1322=)
Xg.31203976C>GCA515856844DMDc.4638G>C (p.Arg1546=)
c.588G>C (p.Arg196=)
n.590G>C
c.2412G>C (p.Arg804=)
n.1309G>C
n.891G>C
n.1310G>C
n.3284G>C
c.1647G>C (p.Arg549=)
c.9792G>C (p.Arg3264=)
c.5760G>C (p.Arg1920=)
c.465G>C (p.Arg155=)
c.531G>C (p.Arg177=)
n.722G>C
c.1605G>C (p.Arg535=)
c.2880G>C (p.Arg960=)
c.9780G>C (p.Arg3260=)
c.162G>C (p.Arg54=)
c.9777G>C (p.Arg3259=)
c.9789G>C (p.Arg3263=)
c.9768G>C (p.Arg3256=)
c.9423G>C (p.Arg3141=)
c.5769G>C (p.Arg1923=)
c.9663G>C (p.Arg3221=)
c.9654G>C (p.Arg3218=)
c.9669G>C (p.Arg3223=)
c.3966G>C (p.Arg1322=)
Xg.31203976C>TCA515856845DMDc.4638G>A (p.Arg1546=)
c.588G>A (p.Arg196=)
n.590G>A
c.2412G>A (p.Arg804=)
n.1309G>A
n.891G>A
n.1310G>A
n.3284G>A
c.1647G>A (p.Arg549=)
c.9792G>A (p.Arg3264=)
c.5760G>A (p.Arg1920=)
c.465G>A (p.Arg155=)
c.531G>A (p.Arg177=)
n.722G>A
c.1605G>A (p.Arg535=)
c.2880G>A (p.Arg960=)
c.9780G>A (p.Arg3260=)
c.162G>A (p.Arg54=)
c.9777G>A (p.Arg3259=)
c.9789G>A (p.Arg3263=)
c.9768G>A (p.Arg3256=)
c.9423G>A (p.Arg3141=)
c.5769G>A (p.Arg1923=)
c.9663G>A (p.Arg3221=)
c.9654G>A (p.Arg3218=)
c.9669G>A (p.Arg3223=)
c.3966G>A (p.Arg1322=)
Xg.31203977delCA2538281902DMDc.4638del (p.Ser1547AlafsTer18)
c.588del (p.Ser197AlafsTer18)
n.590del
c.2412del (p.Ser805AlafsTer18)
n.1309del
n.891del
n.1310del
n.3284del
c.1647del (p.Ser550AlafsTer18)
c.9792del (p.Ser3265AlafsTer18)
c.5760del (p.Ser1921AlafsTer18)
c.588del (p.Ser197AlafsTer?)
c.465del (p.Ser156AlafsTer18)
c.588del (p.Ser197AlafsTer6)
c.531del (p.Ser178AlafsTer18)
c.2412del (p.Ser805AlafsTer?)
c.588del (p.Ser197AlafsTer19)
n.722del
c.1605del (p.Ser536AlafsTer18)
c.2880del (p.Ser961AlafsTer18)
c.9780del (p.Ser3261AlafsTer18)
c.162del (p.Ser55AlafsTer18)
c.9777del (p.Ser3260AlafsTer18)
c.9789del (p.Ser3264AlafsTer18)
c.9768del (p.Ser3257AlafsTer18)
c.9423del (p.Ser3142AlafsTer18)
c.5769del (p.Ser1924AlafsTer18)
c.9663del (p.Ser3222AlafsTer18)
c.9654del (p.Ser3219AlafsTer18)
c.9669del (p.Ser3224AlafsTer18)
c.9792del (p.Ser3265AlafsTer19)
c.3966del (p.Ser1323AlafsTer18)
Xg.31203977C>ACA412648377DMDc.4637G>T (p.Arg1546Leu)
c.587G>T (p.Arg196Leu)
n.589G>T
c.2411G>T (p.Arg804Leu)
n.1308G>T
n.890G>T
n.1309G>T
n.3283G>T
c.1646G>T (p.Arg549Leu)
c.9791G>T (p.Arg3264Leu)
c.5759G>T (p.Arg1920Leu)
c.464G>T (p.Arg155Leu)
c.530G>T (p.Arg177Leu)
n.721G>T
c.1604G>T (p.Arg535Leu)
c.2879G>T (p.Arg960Leu)
c.9779G>T (p.Arg3260Leu)
c.161G>T (p.Arg54Leu)
c.9776G>T (p.Arg3259Leu)
c.9788G>T (p.Arg3263Leu)
c.9767G>T (p.Arg3256Leu)
c.9422G>T (p.Arg3141Leu)
c.5768G>T (p.Arg1923Leu)
c.9662G>T (p.Arg3221Leu)
c.9653G>T (p.Arg3218Leu)
c.9668G>T (p.Arg3223Leu)
c.3965G>T (p.Arg1322Leu)
Xg.31203977C=CA2422347560DMDc.4637G= (p.Arg1546=)
c.587G= (p.Arg196=)
n.589G=
c.2411G= (p.Arg804=)
n.1308G=
n.890G=
n.1309G=
n.3283G=
c.1646G= (p.Arg549=)
c.9791G= (p.Arg3264=)
c.5759G= (p.Arg1920=)
c.464G= (p.Arg155=)
c.530G= (p.Arg177=)
n.721G=
c.1604G= (p.Arg535=)
c.2879G= (p.Arg960=)
c.9779G= (p.Arg3260=)
c.161G= (p.Arg54=)
c.9776G= (p.Arg3259=)
c.9788G= (p.Arg3263=)
c.9767G= (p.Arg3256=)
c.9422G= (p.Arg3141=)
c.5768G= (p.Arg1923=)
c.9662G= (p.Arg3221=)
c.9653G= (p.Arg3218=)
c.9668G= (p.Arg3223=)
c.3965G= (p.Arg1322=)
Xg.31203977C>GCA412648378DMDc.4637G>C (p.Arg1546Pro)
c.587G>C (p.Arg196Pro)
n.589G>C
c.2411G>C (p.Arg804Pro)
n.1308G>C
n.890G>C
n.1309G>C
n.3283G>C
c.1646G>C (p.Arg549Pro)
c.9791G>C (p.Arg3264Pro)
c.5759G>C (p.Arg1920Pro)
c.464G>C (p.Arg155Pro)
c.530G>C (p.Arg177Pro)
n.721G>C
c.1604G>C (p.Arg535Pro)
c.2879G>C (p.Arg960Pro)
c.9779G>C (p.Arg3260Pro)
c.161G>C (p.Arg54Pro)
c.9776G>C (p.Arg3259Pro)
c.9788G>C (p.Arg3263Pro)
c.9767G>C (p.Arg3256Pro)
c.9422G>C (p.Arg3141Pro)
c.5768G>C (p.Arg1923Pro)
c.9662G>C (p.Arg3221Pro)
c.9653G>C (p.Arg3218Pro)
c.9668G>C (p.Arg3223Pro)
c.3965G>C (p.Arg1322Pro)
Xg.31203977C>TCA328407667DMDc.4637G>A (p.Arg1546Gln)
c.587G>A (p.Arg196Gln)
n.589G>A
c.2411G>A (p.Arg804Gln)
n.1308G>A
n.890G>A
n.1309G>A
n.3283G>A
c.1646G>A (p.Arg549Gln)
c.9791G>A (p.Arg3264Gln)
c.5759G>A (p.Arg1920Gln)
c.464G>A (p.Arg155Gln)
c.530G>A (p.Arg177Gln)
n.721G>A
c.1604G>A (p.Arg535Gln)
c.2879G>A (p.Arg960Gln)
c.9779G>A (p.Arg3260Gln)
c.161G>A (p.Arg54Gln)
c.9776G>A (p.Arg3259Gln)
c.9788G>A (p.Arg3263Gln)
c.9767G>A (p.Arg3256Gln)
c.9422G>A (p.Arg3141Gln)
c.5768G>A (p.Arg1923Gln)
c.9662G>A (p.Arg3221Gln)
c.9653G>A (p.Arg3218Gln)
c.9668G>A (p.Arg3223Gln)
c.3965G>A (p.Arg1322Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.31203978G>ACA10377749DMDc.4636C>T (p.Arg1546Trp)
c.586C>T (p.Arg196Trp)
n.588C>T
c.2410C>T (p.Arg804Trp)
n.1307C>T
n.889C>T
n.1308C>T
n.3282C>T
c.1645C>T (p.Arg549Trp)
c.9790C>T (p.Arg3264Trp)
c.5758C>T (p.Arg1920Trp)
c.463C>T (p.Arg155Trp)
c.529C>T (p.Arg177Trp)
n.720C>T
c.1603C>T (p.Arg535Trp)
c.2878C>T (p.Arg960Trp)
c.9778C>T (p.Arg3260Trp)
c.160C>T (p.Arg54Trp)
c.9775C>T (p.Arg3259Trp)
c.9787C>T (p.Arg3263Trp)
c.9766C>T (p.Arg3256Trp)
c.9421C>T (p.Arg3141Trp)
c.5767C>T (p.Arg1923Trp)
c.9661C>T (p.Arg3221Trp)
c.9652C>T (p.Arg3218Trp)
c.9667C>T (p.Arg3223Trp)
c.3964C>T (p.Arg1322Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31203978G>CCA412648379DMDc.4636C>G (p.Arg1546Gly)
c.586C>G (p.Arg196Gly)
n.588C>G
c.2410C>G (p.Arg804Gly)
n.1307C>G
n.889C>G
n.1308C>G
n.3282C>G
c.1645C>G (p.Arg549Gly)
c.9790C>G (p.Arg3264Gly)
c.5758C>G (p.Arg1920Gly)
c.463C>G (p.Arg155Gly)
c.529C>G (p.Arg177Gly)
n.720C>G
c.1603C>G (p.Arg535Gly)
c.2878C>G (p.Arg960Gly)
c.9778C>G (p.Arg3260Gly)
c.160C>G (p.Arg54Gly)
c.9775C>G (p.Arg3259Gly)
c.9787C>G (p.Arg3263Gly)
c.9766C>G (p.Arg3256Gly)
c.9421C>G (p.Arg3141Gly)
c.5767C>G (p.Arg1923Gly)
c.9661C>G (p.Arg3221Gly)
c.9652C>G (p.Arg3218Gly)
c.9667C>G (p.Arg3223Gly)
c.3964C>G (p.Arg1322Gly)
Xg.31203978G=CA2422347561DMDc.4636C= (p.Arg1546=)
c.586C= (p.Arg196=)
n.588C=
c.2410C= (p.Arg804=)
n.1307C=
n.889C=
n.1308C=
n.3282C=
c.1645C= (p.Arg549=)
c.9790C= (p.Arg3264=)
c.5758C= (p.Arg1920=)
c.463C= (p.Arg155=)
c.529C= (p.Arg177=)
n.720C=
c.1603C= (p.Arg535=)
c.2878C= (p.Arg960=)
c.9778C= (p.Arg3260=)
c.160C= (p.Arg54=)
c.9775C= (p.Arg3259=)
c.9787C= (p.Arg3263=)
c.9766C= (p.Arg3256=)
c.9421C= (p.Arg3141=)
c.5767C= (p.Arg1923=)
c.9661C= (p.Arg3221=)
c.9652C= (p.Arg3218=)
c.9667C= (p.Arg3223=)
c.3964C= (p.Arg1322=)
Xg.31203978G>TCA515856849DMDc.4636C>A (p.Arg1546=)
c.586C>A (p.Arg196=)
n.588C>A
c.2410C>A (p.Arg804=)
n.1307C>A
n.889C>A
n.1308C>A
n.3282C>A
c.1645C>A (p.Arg549=)
c.9790C>A (p.Arg3264=)
c.5758C>A (p.Arg1920=)
c.463C>A (p.Arg155=)
c.529C>A (p.Arg177=)
n.720C>A
c.1603C>A (p.Arg535=)
c.2878C>A (p.Arg960=)
c.9778C>A (p.Arg3260=)
c.160C>A (p.Arg54=)
c.9775C>A (p.Arg3259=)
c.9787C>A (p.Arg3263=)
c.9766C>A (p.Arg3256=)
c.9421C>A (p.Arg3141=)
c.5767C>A (p.Arg1923=)
c.9661C>A (p.Arg3221=)
c.9652C>A (p.Arg3218=)
c.9667C>A (p.Arg3223=)
c.3964C>A (p.Arg1322=)
Xg.31203979delCA2526713909DMDc.4636del (p.Arg1546GlyfsTer19)
c.586del (p.Arg196GlyfsTer19)
n.588del
c.2410del (p.Arg804GlyfsTer19)
n.1307del
n.889del
n.1308del
n.3282del
c.1645del (p.Arg549GlyfsTer19)
c.9790del (p.Arg3264GlyfsTer19)
c.5758del (p.Arg1920GlyfsTer19)
c.586del (p.Arg196GlyfsTer?)
c.463del (p.Arg155GlyfsTer19)
c.586del (p.Arg196GlyfsTer7)
c.529del (p.Arg177GlyfsTer19)
c.2410del (p.Arg804GlyfsTer?)
c.586del (p.Arg196GlyfsTer20)
n.720del
c.1603del (p.Arg535GlyfsTer19)
c.2878del (p.Arg960GlyfsTer19)
c.9778del (p.Arg3260GlyfsTer19)
c.160del (p.Arg54GlyfsTer19)
c.9775del (p.Arg3259GlyfsTer19)
c.9787del (p.Arg3263GlyfsTer19)
c.9766del (p.Arg3256GlyfsTer19)
c.9421del (p.Arg3141GlyfsTer19)
c.5767del (p.Arg1923GlyfsTer19)
c.9661del (p.Arg3221GlyfsTer19)
c.9652del (p.Arg3218GlyfsTer19)
c.9667del (p.Arg3223GlyfsTer19)
c.9790del (p.Arg3264GlyfsTer20)
c.3964del (p.Arg1322GlyfsTer19)
Xg.31203979G>ACA515856850DMDc.4635C>T (p.Val1545=)
c.585C>T (p.Val195=)
n.587C>T
c.2409C>T (p.Val803=)
n.1306C>T
n.888C>T
n.1307C>T
n.3281C>T
c.1644C>T (p.Val548=)
c.9789C>T (p.Val3263=)
c.5757C>T (p.Val1919=)
c.462C>T (p.Val154=)
c.528C>T (p.Val176=)
n.719C>T
c.1602C>T (p.Val534=)
c.2877C>T (p.Val959=)
c.9777C>T (p.Val3259=)
c.159C>T (p.Val53=)
c.9774C>T (p.Val3258=)
c.9786C>T (p.Val3262=)
c.9765C>T (p.Val3255=)
c.9420C>T (p.Val3140=)
c.5766C>T (p.Val1922=)
c.9660C>T (p.Val3220=)
c.9651C>T (p.Val3217=)
c.9666C>T (p.Val3222=)
c.3963C>T (p.Val1321=)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31203979G>CCA515856852DMDc.4635C>G (p.Val1545=)
c.585C>G (p.Val195=)
n.587C>G
c.2409C>G (p.Val803=)
n.1306C>G
n.888C>G
n.1307C>G
n.3281C>G
c.1644C>G (p.Val548=)
c.9789C>G (p.Val3263=)
c.5757C>G (p.Val1919=)
c.462C>G (p.Val154=)
c.528C>G (p.Val176=)
n.719C>G
c.1602C>G (p.Val534=)
c.2877C>G (p.Val959=)
c.9777C>G (p.Val3259=)
c.159C>G (p.Val53=)
c.9774C>G (p.Val3258=)
c.9786C>G (p.Val3262=)
c.9765C>G (p.Val3255=)
c.9420C>G (p.Val3140=)
c.5766C>G (p.Val1922=)
c.9660C>G (p.Val3220=)
c.9651C>G (p.Val3217=)
c.9666C>G (p.Val3222=)
c.3963C>G (p.Val1321=)
Xg.31203979G>TCA515856851DMDc.4635C>A (p.Val1545=)
c.585C>A (p.Val195=)
n.587C>A
c.2409C>A (p.Val803=)
n.1306C>A
n.888C>A
n.1307C>A
n.3281C>A
c.1644C>A (p.Val548=)
c.9789C>A (p.Val3263=)
c.5757C>A (p.Val1919=)
c.462C>A (p.Val154=)
c.528C>A (p.Val176=)
n.719C>A
c.1602C>A (p.Val534=)
c.2877C>A (p.Val959=)
c.9777C>A (p.Val3259=)
c.159C>A (p.Val53=)
c.9774C>A (p.Val3258=)
c.9786C>A (p.Val3262=)
c.9765C>A (p.Val3255=)
c.9420C>A (p.Val3140=)
c.5766C>A (p.Val1922=)
c.9660C>A (p.Val3220=)
c.9651C>A (p.Val3217=)
c.9666C>A (p.Val3222=)
c.3963C>A (p.Val1321=)
 ClinVar gnomAD v4
Xg.31203980A>CCA412648380DMDc.4634T>G (p.Val1545Gly)
c.584T>G (p.Val195Gly)
n.586T>G
c.2408T>G (p.Val803Gly)
n.1305T>G
n.887T>G
n.1306T>G
n.3280T>G
c.1643T>G (p.Val548Gly)
c.9788T>G (p.Val3263Gly)
c.5756T>G (p.Val1919Gly)
c.461T>G (p.Val154Gly)
c.527T>G (p.Val176Gly)
n.718T>G
c.1601T>G (p.Val534Gly)
c.2876T>G (p.Val959Gly)
c.9776T>G (p.Val3259Gly)
c.158T>G (p.Val53Gly)
c.9773T>G (p.Val3258Gly)
c.9785T>G (p.Val3262Gly)
c.9764T>G (p.Val3255Gly)
c.9419T>G (p.Val3140Gly)
c.5765T>G (p.Val1922Gly)
c.9659T>G (p.Val3220Gly)
c.9650T>G (p.Val3217Gly)
c.9665T>G (p.Val3222Gly)
c.3962T>G (p.Val1321Gly)
Xg.31203980A>GCA412648381DMDc.4634T>C (p.Val1545Ala)
c.584T>C (p.Val195Ala)
n.586T>C
c.2408T>C (p.Val803Ala)
n.1305T>C
n.887T>C
n.1306T>C
n.3280T>C
c.1643T>C (p.Val548Ala)
c.9788T>C (p.Val3263Ala)
c.5756T>C (p.Val1919Ala)
c.461T>C (p.Val154Ala)
c.527T>C (p.Val176Ala)
n.718T>C
c.1601T>C (p.Val534Ala)
c.2876T>C (p.Val959Ala)
c.9776T>C (p.Val3259Ala)
c.158T>C (p.Val53Ala)
c.9773T>C (p.Val3258Ala)
c.9785T>C (p.Val3262Ala)
c.9764T>C (p.Val3255Ala)
c.9419T>C (p.Val3140Ala)
c.5765T>C (p.Val1922Ala)
c.9659T>C (p.Val3220Ala)
c.9650T>C (p.Val3217Ala)
c.9665T>C (p.Val3222Ala)
c.3962T>C (p.Val1321Ala)
Xg.31203980A>TCA412648382DMDc.4634T>A (p.Val1545Asp)
c.584T>A (p.Val195Asp)
n.586T>A
c.2408T>A (p.Val803Asp)
n.1305T>A
n.887T>A
n.1306T>A
n.3280T>A
c.1643T>A (p.Val548Asp)
c.9788T>A (p.Val3263Asp)
c.5756T>A (p.Val1919Asp)
c.461T>A (p.Val154Asp)
c.527T>A (p.Val176Asp)
n.718T>A
c.1601T>A (p.Val534Asp)
c.2876T>A (p.Val959Asp)
c.9776T>A (p.Val3259Asp)
c.158T>A (p.Val53Asp)
c.9773T>A (p.Val3258Asp)
c.9785T>A (p.Val3262Asp)
c.9764T>A (p.Val3255Asp)
c.9419T>A (p.Val3140Asp)
c.5765T>A (p.Val1922Asp)
c.9659T>A (p.Val3220Asp)
c.9650T>A (p.Val3217Asp)
c.9665T>A (p.Val3222Asp)
c.3962T>A (p.Val1321Asp)
Xg.31203981C>ACA412648383DMDc.4633G>T (p.Val1545Phe)
c.583G>T (p.Val195Phe)
n.585G>T
c.2407G>T (p.Val803Phe)
n.1304G>T
n.886G>T
n.1305G>T
n.3279G>T
c.1642G>T (p.Val548Phe)
c.9787G>T (p.Val3263Phe)
c.5755G>T (p.Val1919Phe)
c.460G>T (p.Val154Phe)
c.526G>T (p.Val176Phe)
n.717G>T
c.1600G>T (p.Val534Phe)
c.2875G>T (p.Val959Phe)
c.9775G>T (p.Val3259Phe)
c.157G>T (p.Val53Phe)
c.9772G>T (p.Val3258Phe)
c.9784G>T (p.Val3262Phe)
c.9763G>T (p.Val3255Phe)
c.9418G>T (p.Val3140Phe)
c.5764G>T (p.Val1922Phe)
c.9658G>T (p.Val3220Phe)
c.9649G>T (p.Val3217Phe)
c.9664G>T (p.Val3222Phe)
c.3961G>T (p.Val1321Phe)
Xg.31203981C>GCA412648385DMDc.4633G>C (p.Val1545Leu)
c.583G>C (p.Val195Leu)
n.585G>C
c.2407G>C (p.Val803Leu)
n.1304G>C
n.886G>C
n.1305G>C
n.3279G>C
c.1642G>C (p.Val548Leu)
c.9787G>C (p.Val3263Leu)
c.5755G>C (p.Val1919Leu)
c.460G>C (p.Val154Leu)
c.526G>C (p.Val176Leu)
n.717G>C
c.1600G>C (p.Val534Leu)
c.2875G>C (p.Val959Leu)
c.9775G>C (p.Val3259Leu)
c.157G>C (p.Val53Leu)
c.9772G>C (p.Val3258Leu)
c.9784G>C (p.Val3262Leu)
c.9763G>C (p.Val3255Leu)
c.9418G>C (p.Val3140Leu)
c.5764G>C (p.Val1922Leu)
c.9658G>C (p.Val3220Leu)
c.9649G>C (p.Val3217Leu)
c.9664G>C (p.Val3222Leu)
c.3961G>C (p.Val1321Leu)
Xg.31203981C>TCA412648384DMDc.4633G>A (p.Val1545Ile)
c.583G>A (p.Val195Ile)
n.585G>A
c.2407G>A (p.Val803Ile)
n.1304G>A
n.886G>A
n.1305G>A
n.3279G>A
c.1642G>A (p.Val548Ile)
c.9787G>A (p.Val3263Ile)
c.5755G>A (p.Val1919Ile)
c.460G>A (p.Val154Ile)
c.526G>A (p.Val176Ile)
n.717G>A
c.1600G>A (p.Val534Ile)
c.2875G>A (p.Val959Ile)
c.9775G>A (p.Val3259Ile)
c.157G>A (p.Val53Ile)
c.9772G>A (p.Val3258Ile)
c.9784G>A (p.Val3262Ile)
c.9763G>A (p.Val3255Ile)
c.9418G>A (p.Val3140Ile)
c.5764G>A (p.Val1922Ile)
c.9658G>A (p.Val3220Ile)
c.9649G>A (p.Val3217Ile)
c.9664G>A (p.Val3222Ile)
c.3961G>A (p.Val1321Ile)
Xg.31203982A=CA2422347562DMDc.4632T= (p.Ser1544=)
c.582T= (p.Ser194=)
n.584T=
c.2406T= (p.Ser802=)
n.1303T=
n.885T=
n.1304T=
n.3278T=
c.1641T= (p.Ser547=)
c.9786T= (p.Ser3262=)
c.5754T= (p.Ser1918=)
c.459T= (p.Ser153=)
c.525T= (p.Ser175=)
n.716T=
c.1599T= (p.Ser533=)
c.2874T= (p.Ser958=)
c.9774T= (p.Ser3258=)
c.156T= (p.Ser52=)
c.9771T= (p.Ser3257=)
c.9783T= (p.Ser3261=)
c.9762T= (p.Ser3254=)
c.9417T= (p.Ser3139=)
c.5763T= (p.Ser1921=)
c.9657T= (p.Ser3219=)
c.9648T= (p.Ser3216=)
c.9663T= (p.Ser3221=)
c.3960T= (p.Ser1320=)
Xg.31203982A>CCA412648386DMDc.4632T>G (p.Ser1544Arg)
c.582T>G (p.Ser194Arg)
n.584T>G
c.2406T>G (p.Ser802Arg)
n.1303T>G
n.885T>G
n.1304T>G
n.3278T>G
c.1641T>G (p.Ser547Arg)
c.9786T>G (p.Ser3262Arg)
c.5754T>G (p.Ser1918Arg)
c.459T>G (p.Ser153Arg)
c.525T>G (p.Ser175Arg)
n.716T>G
c.1599T>G (p.Ser533Arg)
c.2874T>G (p.Ser958Arg)
c.9774T>G (p.Ser3258Arg)
c.156T>G (p.Ser52Arg)
c.9771T>G (p.Ser3257Arg)
c.9783T>G (p.Ser3261Arg)
c.9762T>G (p.Ser3254Arg)
c.9417T>G (p.Ser3139Arg)
c.5763T>G (p.Ser1921Arg)
c.9657T>G (p.Ser3219Arg)
c.9648T>G (p.Ser3216Arg)
c.9663T>G (p.Ser3221Arg)
c.3960T>G (p.Ser1320Arg)
Xg.31203982A>GCA328407668DMDc.4632T>C (p.Ser1544=)
c.582T>C (p.Ser194=)
n.584T>C
c.2406T>C (p.Ser802=)
n.1303T>C
n.885T>C
n.1304T>C
n.3278T>C
c.1641T>C (p.Ser547=)
c.9786T>C (p.Ser3262=)
c.5754T>C (p.Ser1918=)
c.459T>C (p.Ser153=)
c.525T>C (p.Ser175=)
n.716T>C
c.1599T>C (p.Ser533=)
c.2874T>C (p.Ser958=)
c.9774T>C (p.Ser3258=)
c.156T>C (p.Ser52=)
c.9771T>C (p.Ser3257=)
c.9783T>C (p.Ser3261=)
c.9762T>C (p.Ser3254=)
c.9417T>C (p.Ser3139=)
c.5763T>C (p.Ser1921=)
c.9657T>C (p.Ser3219=)
c.9648T>C (p.Ser3216=)
c.9663T>C (p.Ser3221=)
c.3960T>C (p.Ser1320=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31203982A>TCA412648387DMDc.4632T>A (p.Ser1544Arg)
c.582T>A (p.Ser194Arg)
n.584T>A
c.2406T>A (p.Ser802Arg)
n.1303T>A
n.885T>A
n.1304T>A
n.3278T>A
c.1641T>A (p.Ser547Arg)
c.9786T>A (p.Ser3262Arg)
c.5754T>A (p.Ser1918Arg)
c.459T>A (p.Ser153Arg)
c.525T>A (p.Ser175Arg)
n.716T>A
c.1599T>A (p.Ser533Arg)
c.2874T>A (p.Ser958Arg)
c.9774T>A (p.Ser3258Arg)
c.156T>A (p.Ser52Arg)
c.9771T>A (p.Ser3257Arg)
c.9783T>A (p.Ser3261Arg)
c.9762T>A (p.Ser3254Arg)
c.9417T>A (p.Ser3139Arg)
c.5763T>A (p.Ser1921Arg)
c.9657T>A (p.Ser3219Arg)
c.9648T>A (p.Ser3216Arg)
c.9663T>A (p.Ser3221Arg)
c.3960T>A (p.Ser1320Arg)
Xg.31203983C>ACA412648388DMDc.4631G>T (p.Ser1544Ile)
c.581G>T (p.Ser194Ile)
n.583G>T
c.2405G>T (p.Ser802Ile)
n.1302G>T
n.884G>T
n.1303G>T
n.3277G>T
c.1640G>T (p.Ser547Ile)
c.9785G>T (p.Ser3262Ile)
c.5753G>T (p.Ser1918Ile)
c.458G>T (p.Ser153Ile)
c.524G>T (p.Ser175Ile)
n.715G>T
c.1598G>T (p.Ser533Ile)
c.2873G>T (p.Ser958Ile)
c.9773G>T (p.Ser3258Ile)
c.155G>T (p.Ser52Ile)
c.9770G>T (p.Ser3257Ile)
c.9782G>T (p.Ser3261Ile)
c.9761G>T (p.Ser3254Ile)
c.9416G>T (p.Ser3139Ile)
c.5762G>T (p.Ser1921Ile)
c.9656G>T (p.Ser3219Ile)
c.9647G>T (p.Ser3216Ile)
c.9662G>T (p.Ser3221Ile)
c.3959G>T (p.Ser1320Ile)
Xg.31203983C>GCA412648389DMDc.4631G>C (p.Ser1544Thr)
c.581G>C (p.Ser194Thr)
n.583G>C
c.2405G>C (p.Ser802Thr)
n.1302G>C
n.884G>C
n.1303G>C
n.3277G>C
c.1640G>C (p.Ser547Thr)
c.9785G>C (p.Ser3262Thr)
c.5753G>C (p.Ser1918Thr)
c.458G>C (p.Ser153Thr)
c.524G>C (p.Ser175Thr)
n.715G>C
c.1598G>C (p.Ser533Thr)
c.2873G>C (p.Ser958Thr)
c.9773G>C (p.Ser3258Thr)
c.155G>C (p.Ser52Thr)
c.9770G>C (p.Ser3257Thr)
c.9782G>C (p.Ser3261Thr)
c.9761G>C (p.Ser3254Thr)
c.9416G>C (p.Ser3139Thr)
c.5762G>C (p.Ser1921Thr)
c.9656G>C (p.Ser3219Thr)
c.9647G>C (p.Ser3216Thr)
c.9662G>C (p.Ser3221Thr)
c.3959G>C (p.Ser1320Thr)
Xg.31203983C>TCA412648390DMDc.4631G>A (p.Ser1544Asn)
c.581G>A (p.Ser194Asn)
n.583G>A
c.2405G>A (p.Ser802Asn)
n.1302G>A
n.884G>A
n.1303G>A
n.3277G>A
c.1640G>A (p.Ser547Asn)
c.9785G>A (p.Ser3262Asn)
c.5753G>A (p.Ser1918Asn)
c.458G>A (p.Ser153Asn)
c.524G>A (p.Ser175Asn)
n.715G>A
c.1598G>A (p.Ser533Asn)
c.2873G>A (p.Ser958Asn)
c.9773G>A (p.Ser3258Asn)
c.155G>A (p.Ser52Asn)
c.9770G>A (p.Ser3257Asn)
c.9782G>A (p.Ser3261Asn)
c.9761G>A (p.Ser3254Asn)
c.9416G>A (p.Ser3139Asn)
c.5762G>A (p.Ser1921Asn)
c.9656G>A (p.Ser3219Asn)
c.9647G>A (p.Ser3216Asn)
c.9662G>A (p.Ser3221Asn)
c.3959G>A (p.Ser1320Asn)
Xg.31203984T>ACA412648391DMDc.4630A>T (p.Ser1544Cys)
c.580A>T (p.Ser194Cys)
n.582A>T
c.2404A>T (p.Ser802Cys)
n.1301A>T
n.883A>T
n.1302A>T
n.3276A>T
c.1639A>T (p.Ser547Cys)
c.9784A>T (p.Ser3262Cys)
c.5752A>T (p.Ser1918Cys)
c.457A>T (p.Ser153Cys)
c.523A>T (p.Ser175Cys)
n.714A>T
c.1597A>T (p.Ser533Cys)
c.2872A>T (p.Ser958Cys)
c.9772A>T (p.Ser3258Cys)
c.154A>T (p.Ser52Cys)
c.9769A>T (p.Ser3257Cys)
c.9781A>T (p.Ser3261Cys)
c.9760A>T (p.Ser3254Cys)
c.9415A>T (p.Ser3139Cys)
c.5761A>T (p.Ser1921Cys)
c.9655A>T (p.Ser3219Cys)
c.9646A>T (p.Ser3216Cys)
c.9661A>T (p.Ser3221Cys)
c.3958A>T (p.Ser1320Cys)
Xg.31203984T>CCA412648392DMDc.4630A>G (p.Ser1544Gly)
c.580A>G (p.Ser194Gly)
n.582A>G
c.2404A>G (p.Ser802Gly)
n.1301A>G
n.883A>G
n.1302A>G
n.3276A>G
c.1639A>G (p.Ser547Gly)
c.9784A>G (p.Ser3262Gly)
c.5752A>G (p.Ser1918Gly)
c.457A>G (p.Ser153Gly)
c.523A>G (p.Ser175Gly)
n.714A>G
c.1597A>G (p.Ser533Gly)
c.2872A>G (p.Ser958Gly)
c.9772A>G (p.Ser3258Gly)
c.154A>G (p.Ser52Gly)
c.9769A>G (p.Ser3257Gly)
c.9781A>G (p.Ser3261Gly)
c.9760A>G (p.Ser3254Gly)
c.9415A>G (p.Ser3139Gly)
c.5761A>G (p.Ser1921Gly)
c.9655A>G (p.Ser3219Gly)
c.9646A>G (p.Ser3216Gly)
c.9661A>G (p.Ser3221Gly)
c.3958A>G (p.Ser1320Gly)
Xg.31203984T>GCA412648393DMDc.4630A>C (p.Ser1544Arg)
c.580A>C (p.Ser194Arg)
n.582A>C
c.2404A>C (p.Ser802Arg)
n.1301A>C
n.883A>C
n.1302A>C
n.3276A>C
c.1639A>C (p.Ser547Arg)
c.9784A>C (p.Ser3262Arg)
c.5752A>C (p.Ser1918Arg)
c.457A>C (p.Ser153Arg)
c.523A>C (p.Ser175Arg)
n.714A>C
c.1597A>C (p.Ser533Arg)
c.2872A>C (p.Ser958Arg)
c.9772A>C (p.Ser3258Arg)
c.154A>C (p.Ser52Arg)
c.9769A>C (p.Ser3257Arg)
c.9781A>C (p.Ser3261Arg)
c.9760A>C (p.Ser3254Arg)
c.9415A>C (p.Ser3139Arg)
c.5761A>C (p.Ser1921Arg)
c.9655A>C (p.Ser3219Arg)
c.9646A>C (p.Ser3216Arg)
c.9661A>C (p.Ser3221Arg)
c.3958A>C (p.Ser1320Arg)
Xg.31203985T>ACA328407669DMDc.4629A>T (p.Pro1543=)
c.579A>T (p.Pro193=)
n.581A>T
c.2403A>T (p.Pro801=)
n.1300A>T
n.882A>T
n.1301A>T
n.3275A>T
c.1638A>T (p.Pro546=)
c.9783A>T (p.Pro3261=)
c.5751A>T (p.Pro1917=)
c.456A>T (p.Pro152=)
c.522A>T (p.Pro174=)
n.713A>T
c.1596A>T (p.Pro532=)
c.2871A>T (p.Pro957=)
c.9771A>T (p.Pro3257=)
c.153A>T (p.Pro51=)
c.9768A>T (p.Pro3256=)
c.9780A>T (p.Pro3260=)
c.9759A>T (p.Pro3253=)
c.9414A>T (p.Pro3138=)
c.5760A>T (p.Pro1920=)
c.9654A>T (p.Pro3218=)
c.9645A>T (p.Pro3215=)
c.9660A>T (p.Pro3220=)
c.3957A>T (p.Pro1319=)
 dbSNP
Xg.31203985T>CCA515856857DMDc.4629A>G (p.Pro1543=)
c.579A>G (p.Pro193=)
n.581A>G
c.2403A>G (p.Pro801=)
n.1300A>G
n.882A>G
n.1301A>G
n.3275A>G
c.1638A>G (p.Pro546=)
c.9783A>G (p.Pro3261=)
c.5751A>G (p.Pro1917=)
c.456A>G (p.Pro152=)
c.522A>G (p.Pro174=)
n.713A>G
c.1596A>G (p.Pro532=)
c.2871A>G (p.Pro957=)
c.9771A>G (p.Pro3257=)
c.153A>G (p.Pro51=)
c.9768A>G (p.Pro3256=)
c.9780A>G (p.Pro3260=)
c.9759A>G (p.Pro3253=)
c.9414A>G (p.Pro3138=)
c.5760A>G (p.Pro1920=)
c.9654A>G (p.Pro3218=)
c.9645A>G (p.Pro3215=)
c.9660A>G (p.Pro3220=)
c.3957A>G (p.Pro1319=)
Xg.31203985T>GCA515856858DMDc.4629A>C (p.Pro1543=)
c.579A>C (p.Pro193=)
n.581A>C
c.2403A>C (p.Pro801=)
n.1300A>C
n.882A>C
n.1301A>C
n.3275A>C
c.1638A>C (p.Pro546=)
c.9783A>C (p.Pro3261=)
c.5751A>C (p.Pro1917=)
c.456A>C (p.Pro152=)
c.522A>C (p.Pro174=)
n.713A>C
c.1596A>C (p.Pro532=)
c.2871A>C (p.Pro957=)
c.9771A>C (p.Pro3257=)
c.153A>C (p.Pro51=)
c.9768A>C (p.Pro3256=)
c.9780A>C (p.Pro3260=)
c.9759A>C (p.Pro3253=)
c.9414A>C (p.Pro3138=)
c.5760A>C (p.Pro1920=)
c.9654A>C (p.Pro3218=)
c.9645A>C (p.Pro3215=)
c.9660A>C (p.Pro3220=)
c.3957A>C (p.Pro1319=)
Xg.31203985T=CA2422347563DMDc.4629A= (p.Pro1543=)
c.579A= (p.Pro193=)
n.581A=
c.2403A= (p.Pro801=)
n.1300A=
n.882A=
n.1301A=
n.3275A=
c.1638A= (p.Pro546=)
c.9783A= (p.Pro3261=)
c.5751A= (p.Pro1917=)
c.456A= (p.Pro152=)
c.522A= (p.Pro174=)
n.713A=
c.1596A= (p.Pro532=)
c.2871A= (p.Pro957=)
c.9771A= (p.Pro3257=)
c.153A= (p.Pro51=)
c.9768A= (p.Pro3256=)
c.9780A= (p.Pro3260=)
c.9759A= (p.Pro3253=)
c.9414A= (p.Pro3138=)
c.5760A= (p.Pro1920=)
c.9654A= (p.Pro3218=)
c.9645A= (p.Pro3215=)
c.9660A= (p.Pro3220=)
c.3957A= (p.Pro1319=)
Xg.31203986G>ACA412648395DMDc.4628C>T (p.Pro1543Leu)
c.578C>T (p.Pro193Leu)
n.580C>T
c.2402C>T (p.Pro801Leu)
n.1299C>T
n.881C>T
n.1300C>T
n.3274C>T
c.1637C>T (p.Pro546Leu)
c.9782C>T (p.Pro3261Leu)
c.5750C>T (p.Pro1917Leu)
c.455C>T (p.Pro152Leu)
c.521C>T (p.Pro174Leu)
n.712C>T
c.1595C>T (p.Pro532Leu)
c.2870C>T (p.Pro957Leu)
c.9770C>T (p.Pro3257Leu)
c.152C>T (p.Pro51Leu)
c.9767C>T (p.Pro3256Leu)
c.9779C>T (p.Pro3260Leu)
c.9758C>T (p.Pro3253Leu)
c.9413C>T (p.Pro3138Leu)
c.5759C>T (p.Pro1920Leu)
c.9653C>T (p.Pro3218Leu)
c.9644C>T (p.Pro3215Leu)
c.9659C>T (p.Pro3220Leu)
c.3956C>T (p.Pro1319Leu)
Xg.31203986G>CCA412648396DMDc.4628C>G (p.Pro1543Arg)
c.578C>G (p.Pro193Arg)
n.580C>G
c.2402C>G (p.Pro801Arg)
n.1299C>G
n.881C>G
n.1300C>G
n.3274C>G
c.1637C>G (p.Pro546Arg)
c.9782C>G (p.Pro3261Arg)
c.5750C>G (p.Pro1917Arg)
c.455C>G (p.Pro152Arg)
c.521C>G (p.Pro174Arg)
n.712C>G
c.1595C>G (p.Pro532Arg)
c.2870C>G (p.Pro957Arg)
c.9770C>G (p.Pro3257Arg)
c.152C>G (p.Pro51Arg)
c.9767C>G (p.Pro3256Arg)
c.9779C>G (p.Pro3260Arg)
c.9758C>G (p.Pro3253Arg)
c.9413C>G (p.Pro3138Arg)
c.5759C>G (p.Pro1920Arg)
c.9653C>G (p.Pro3218Arg)
c.9644C>G (p.Pro3215Arg)
c.9659C>G (p.Pro3220Arg)
c.3956C>G (p.Pro1319Arg)
Xg.31203986G>TCA412648394DMDc.4628C>A (p.Pro1543Gln)
c.578C>A (p.Pro193Gln)
n.580C>A
c.2402C>A (p.Pro801Gln)
n.1299C>A
n.881C>A
n.1300C>A
n.3274C>A
c.1637C>A (p.Pro546Gln)
c.9782C>A (p.Pro3261Gln)
c.5750C>A (p.Pro1917Gln)
c.455C>A (p.Pro152Gln)
c.521C>A (p.Pro174Gln)
n.712C>A
c.1595C>A (p.Pro532Gln)
c.2870C>A (p.Pro957Gln)
c.9770C>A (p.Pro3257Gln)
c.152C>A (p.Pro51Gln)
c.9767C>A (p.Pro3256Gln)
c.9779C>A (p.Pro3260Gln)
c.9758C>A (p.Pro3253Gln)
c.9413C>A (p.Pro3138Gln)
c.5759C>A (p.Pro1920Gln)
c.9653C>A (p.Pro3218Gln)
c.9644C>A (p.Pro3215Gln)
c.9659C>A (p.Pro3220Gln)
c.3956C>A (p.Pro1319Gln)
Xg.31203987G>ACA412648397DMDc.4627C>T (p.Pro1543Ser)
c.577C>T (p.Pro193Ser)
n.579C>T
c.2401C>T (p.Pro801Ser)
n.1298C>T
n.880C>T
n.1299C>T
n.3273C>T
c.1636C>T (p.Pro546Ser)
c.9781C>T (p.Pro3261Ser)
c.5749C>T (p.Pro1917Ser)
c.454C>T (p.Pro152Ser)
c.520C>T (p.Pro174Ser)
n.711C>T
c.1594C>T (p.Pro532Ser)
c.2869C>T (p.Pro957Ser)
c.9769C>T (p.Pro3257Ser)
c.151C>T (p.Pro51Ser)
c.9766C>T (p.Pro3256Ser)
c.9778C>T (p.Pro3260Ser)
c.9757C>T (p.Pro3253Ser)
c.9412C>T (p.Pro3138Ser)
c.5758C>T (p.Pro1920Ser)
c.9652C>T (p.Pro3218Ser)
c.9643C>T (p.Pro3215Ser)
c.9658C>T (p.Pro3220Ser)
c.3955C>T (p.Pro1319Ser)
Xg.31203987G>CCA412648398DMDc.4627C>G (p.Pro1543Ala)
c.577C>G (p.Pro193Ala)
n.579C>G
c.2401C>G (p.Pro801Ala)
n.1298C>G
n.880C>G
n.1299C>G
n.3273C>G
c.1636C>G (p.Pro546Ala)
c.9781C>G (p.Pro3261Ala)
c.5749C>G (p.Pro1917Ala)
c.454C>G (p.Pro152Ala)
c.520C>G (p.Pro174Ala)
n.711C>G
c.1594C>G (p.Pro532Ala)
c.2869C>G (p.Pro957Ala)
c.9769C>G (p.Pro3257Ala)
c.151C>G (p.Pro51Ala)
c.9766C>G (p.Pro3256Ala)
c.9778C>G (p.Pro3260Ala)
c.9757C>G (p.Pro3253Ala)
c.9412C>G (p.Pro3138Ala)
c.5758C>G (p.Pro1920Ala)
c.9652C>G (p.Pro3218Ala)
c.9643C>G (p.Pro3215Ala)
c.9658C>G (p.Pro3220Ala)
c.3955C>G (p.Pro1319Ala)
 ClinVar
Xg.31203987G>TCA412648399DMDc.4627C>A (p.Pro1543Thr)
c.577C>A (p.Pro193Thr)
n.579C>A
c.2401C>A (p.Pro801Thr)
n.1298C>A
n.880C>A
n.1299C>A
n.3273C>A
c.1636C>A (p.Pro546Thr)
c.9781C>A (p.Pro3261Thr)
c.5749C>A (p.Pro1917Thr)
c.454C>A (p.Pro152Thr)
c.520C>A (p.Pro174Thr)
n.711C>A
c.1594C>A (p.Pro532Thr)
c.2869C>A (p.Pro957Thr)
c.9769C>A (p.Pro3257Thr)
c.151C>A (p.Pro51Thr)
c.9766C>A (p.Pro3256Thr)
c.9778C>A (p.Pro3260Thr)
c.9757C>A (p.Pro3253Thr)
c.9412C>A (p.Pro3138Thr)
c.5758C>A (p.Pro1920Thr)
c.9652C>A (p.Pro3218Thr)
c.9643C>A (p.Pro3215Thr)
c.9658C>A (p.Pro3220Thr)
c.3955C>A (p.Pro1319Thr)
Xg.31203988C>ACA412648400DMDc.4626G>T (p.Glu1542Asp)
c.576G>T (p.Glu192Asp)
n.578G>T
c.2400G>T (p.Glu800Asp)
n.1297G>T
n.879G>T
n.1298G>T
n.3272G>T
c.1635G>T (p.Glu545Asp)
c.9780G>T (p.Glu3260Asp)
c.5748G>T (p.Glu1916Asp)
c.453G>T (p.Glu151Asp)
c.519G>T (p.Glu173Asp)
n.710G>T
c.1593G>T (p.Glu531Asp)
c.2868G>T (p.Glu956Asp)
c.9768G>T (p.Glu3256Asp)
c.150G>T (p.Glu50Asp)
c.9765G>T (p.Glu3255Asp)
c.9777G>T (p.Glu3259Asp)
c.9756G>T (p.Glu3252Asp)
c.9411G>T (p.Glu3137Asp)
c.5757G>T (p.Glu1919Asp)
c.9651G>T (p.Glu3217Asp)
c.9642G>T (p.Glu3214Asp)
c.9657G>T (p.Glu3219Asp)
c.3954G>T (p.Glu1318Asp)
Xg.31203988C>GCA412648401DMDc.4626G>C (p.Glu1542Asp)
c.576G>C (p.Glu192Asp)
n.578G>C
c.2400G>C (p.Glu800Asp)
n.1297G>C
n.879G>C
n.1298G>C
n.3272G>C
c.1635G>C (p.Glu545Asp)
c.9780G>C (p.Glu3260Asp)
c.5748G>C (p.Glu1916Asp)
c.453G>C (p.Glu151Asp)
c.519G>C (p.Glu173Asp)
n.710G>C
c.1593G>C (p.Glu531Asp)
c.2868G>C (p.Glu956Asp)
c.9768G>C (p.Glu3256Asp)
c.150G>C (p.Glu50Asp)
c.9765G>C (p.Glu3255Asp)
c.9777G>C (p.Glu3259Asp)
c.9756G>C (p.Glu3252Asp)
c.9411G>C (p.Glu3137Asp)
c.5757G>C (p.Glu1919Asp)
c.9651G>C (p.Glu3217Asp)
c.9642G>C (p.Glu3214Asp)
c.9657G>C (p.Glu3219Asp)
c.3954G>C (p.Glu1318Asp)
Xg.31203988C>TCA515856859DMDc.4626G>A (p.Glu1542=)
c.576G>A (p.Glu192=)
n.578G>A
c.2400G>A (p.Glu800=)
n.1297G>A
n.879G>A
n.1298G>A
n.3272G>A
c.1635G>A (p.Glu545=)
c.9780G>A (p.Glu3260=)
c.5748G>A (p.Glu1916=)
c.453G>A (p.Glu151=)
c.519G>A (p.Glu173=)
n.710G>A
c.1593G>A (p.Glu531=)
c.2868G>A (p.Glu956=)
c.9768G>A (p.Glu3256=)
c.150G>A (p.Glu50=)
c.9765G>A (p.Glu3255=)
c.9777G>A (p.Glu3259=)
c.9756G>A (p.Glu3252=)
c.9411G>A (p.Glu3137=)
c.5757G>A (p.Glu1919=)
c.9651G>A (p.Glu3217=)
c.9642G>A (p.Glu3214=)
c.9657G>A (p.Glu3219=)
c.3954G>A (p.Glu1318=)
Xg.31203989T>ACA412648402DMDc.4625A>T (p.Glu1542Val)
c.575A>T (p.Glu192Val)
n.577A>T
c.2399A>T (p.Glu800Val)
n.1296A>T
n.878A>T
n.1297A>T
n.3271A>T
c.1634A>T (p.Glu545Val)
c.9779A>T (p.Glu3260Val)
c.5747A>T (p.Glu1916Val)
c.452A>T (p.Glu151Val)
c.518A>T (p.Glu173Val)
n.709A>T
c.1592A>T (p.Glu531Val)
c.2867A>T (p.Glu956Val)
c.9767A>T (p.Glu3256Val)
c.149A>T (p.Glu50Val)
c.9764A>T (p.Glu3255Val)
c.9776A>T (p.Glu3259Val)
c.9755A>T (p.Glu3252Val)
c.9410A>T (p.Glu3137Val)
c.5756A>T (p.Glu1919Val)
c.9650A>T (p.Glu3217Val)
c.9641A>T (p.Glu3214Val)
c.9656A>T (p.Glu3219Val)
c.3953A>T (p.Glu1318Val)
Xg.31203989T>CCA412648403DMDc.4625A>G (p.Glu1542Gly)
c.575A>G (p.Glu192Gly)
n.577A>G
c.2399A>G (p.Glu800Gly)
n.1296A>G
n.878A>G
n.1297A>G
n.3271A>G
c.1634A>G (p.Glu545Gly)
c.9779A>G (p.Glu3260Gly)
c.5747A>G (p.Glu1916Gly)
c.452A>G (p.Glu151Gly)
c.518A>G (p.Glu173Gly)
n.709A>G
c.1592A>G (p.Glu531Gly)
c.2867A>G (p.Glu956Gly)
c.9767A>G (p.Glu3256Gly)
c.149A>G (p.Glu50Gly)
c.9764A>G (p.Glu3255Gly)
c.9776A>G (p.Glu3259Gly)
c.9755A>G (p.Glu3252Gly)
c.9410A>G (p.Glu3137Gly)
c.5756A>G (p.Glu1919Gly)
c.9650A>G (p.Glu3217Gly)
c.9641A>G (p.Glu3214Gly)
c.9656A>G (p.Glu3219Gly)
c.3953A>G (p.Glu1318Gly)
Xg.31203989T>GCA412648404DMDc.4625A>C (p.Glu1542Ala)
c.575A>C (p.Glu192Ala)
n.577A>C
c.2399A>C (p.Glu800Ala)
n.1296A>C
n.878A>C
n.1297A>C
n.3271A>C
c.1634A>C (p.Glu545Ala)
c.9779A>C (p.Glu3260Ala)
c.5747A>C (p.Glu1916Ala)
c.452A>C (p.Glu151Ala)
c.518A>C (p.Glu173Ala)
n.709A>C
c.1592A>C (p.Glu531Ala)
c.2867A>C (p.Glu956Ala)
c.9767A>C (p.Glu3256Ala)
c.149A>C (p.Glu50Ala)
c.9764A>C (p.Glu3255Ala)
c.9776A>C (p.Glu3259Ala)
c.9755A>C (p.Glu3252Ala)
c.9410A>C (p.Glu3137Ala)
c.5756A>C (p.Glu1919Ala)
c.9650A>C (p.Glu3217Ala)
c.9641A>C (p.Glu3214Ala)
c.9656A>C (p.Glu3219Ala)
c.3953A>C (p.Glu1318Ala)
Xg.31203990C>ACA412648405DMDc.4624G>T (p.Glu1542Ter)
c.574G>T (p.Glu192Ter)
n.576G>T
c.2398G>T (p.Glu800Ter)
n.1295G>T
n.877G>T
n.1296G>T
n.3270G>T
c.1633G>T (p.Glu545Ter)
c.9778G>T (p.Glu3260Ter)
c.5746G>T (p.Glu1916Ter)
c.451G>T (p.Glu151Ter)
c.517G>T (p.Glu173Ter)
n.708G>T
c.1591G>T (p.Glu531Ter)
c.2866G>T (p.Glu956Ter)
c.9766G>T (p.Glu3256Ter)
c.148G>T (p.Glu50Ter)
c.9763G>T (p.Glu3255Ter)
c.9775G>T (p.Glu3259Ter)
c.9754G>T (p.Glu3252Ter)
c.9409G>T (p.Glu3137Ter)
c.5755G>T (p.Glu1919Ter)
c.9649G>T (p.Glu3217Ter)
c.9640G>T (p.Glu3214Ter)
c.9655G>T (p.Glu3219Ter)
c.3952G>T (p.Glu1318Ter)
Xg.31203990C>GCA412648406DMDc.4624G>C (p.Glu1542Gln)
c.574G>C (p.Glu192Gln)
n.576G>C
c.2398G>C (p.Glu800Gln)
n.1295G>C
n.877G>C
n.1296G>C
n.3270G>C
c.1633G>C (p.Glu545Gln)
c.9778G>C (p.Glu3260Gln)
c.5746G>C (p.Glu1916Gln)
c.451G>C (p.Glu151Gln)
c.517G>C (p.Glu173Gln)
n.708G>C
c.1591G>C (p.Glu531Gln)
c.2866G>C (p.Glu956Gln)
c.9766G>C (p.Glu3256Gln)
c.148G>C (p.Glu50Gln)
c.9763G>C (p.Glu3255Gln)
c.9775G>C (p.Glu3259Gln)
c.9754G>C (p.Glu3252Gln)
c.9409G>C (p.Glu3137Gln)
c.5755G>C (p.Glu1919Gln)
c.9649G>C (p.Glu3217Gln)
c.9640G>C (p.Glu3214Gln)
c.9655G>C (p.Glu3219Gln)
c.3952G>C (p.Glu1318Gln)
Xg.31203990C>TCA412648407DMDc.4624G>A (p.Glu1542Lys)
c.574G>A (p.Glu192Lys)
n.576G>A
c.2398G>A (p.Glu800Lys)
n.1295G>A
n.877G>A
n.1296G>A
n.3270G>A
c.1633G>A (p.Glu545Lys)
c.9778G>A (p.Glu3260Lys)
c.5746G>A (p.Glu1916Lys)
c.451G>A (p.Glu151Lys)
c.517G>A (p.Glu173Lys)
n.708G>A
c.1591G>A (p.Glu531Lys)
c.2866G>A (p.Glu956Lys)
c.9766G>A (p.Glu3256Lys)
c.148G>A (p.Glu50Lys)
c.9763G>A (p.Glu3255Lys)
c.9775G>A (p.Glu3259Lys)
c.9754G>A (p.Glu3252Lys)
c.9409G>A (p.Glu3137Lys)
c.5755G>A (p.Glu1919Lys)
c.9649G>A (p.Glu3217Lys)
c.9640G>A (p.Glu3214Lys)
c.9655G>A (p.Glu3219Lys)
c.3952G>A (p.Glu1318Lys)
Xg.31203991A>CCA412648408DMDc.4623T>G (p.Ile1541Met)
c.573T>G (p.Ile191Met)
n.575T>G
c.2397T>G (p.Ile799Met)
n.1294T>G
n.876T>G
n.1295T>G
n.3269T>G
c.1632T>G (p.Ile544Met)
c.9777T>G (p.Ile3259Met)
c.5745T>G (p.Ile1915Met)
c.450T>G (p.Ile150Met)
c.516T>G (p.Ile172Met)
n.707T>G
c.1590T>G (p.Ile530Met)
c.2865T>G (p.Ile955Met)
c.9765T>G (p.Ile3255Met)
c.147T>G (p.Ile49Met)
c.9762T>G (p.Ile3254Met)
c.9774T>G (p.Ile3258Met)
c.9753T>G (p.Ile3251Met)
c.9408T>G (p.Ile3136Met)
c.5754T>G (p.Ile1918Met)
c.9648T>G (p.Ile3216Met)
c.9639T>G (p.Ile3213Met)
c.9654T>G (p.Ile3218Met)
c.3951T>G (p.Ile1317Met)
Xg.31203991A>GCA515856863DMDc.4623T>C (p.Ile1541=)
c.573T>C (p.Ile191=)
n.575T>C
c.2397T>C (p.Ile799=)
n.1294T>C
n.876T>C
n.1295T>C
n.3269T>C
c.1632T>C (p.Ile544=)
c.9777T>C (p.Ile3259=)
c.5745T>C (p.Ile1915=)
c.450T>C (p.Ile150=)
c.516T>C (p.Ile172=)
n.707T>C
c.1590T>C (p.Ile530=)
c.2865T>C (p.Ile955=)
c.9765T>C (p.Ile3255=)
c.147T>C (p.Ile49=)
c.9762T>C (p.Ile3254=)
c.9774T>C (p.Ile3258=)
c.9753T>C (p.Ile3251=)
c.9408T>C (p.Ile3136=)
c.5754T>C (p.Ile1918=)
c.9648T>C (p.Ile3216=)
c.9639T>C (p.Ile3213=)
c.9654T>C (p.Ile3218=)
c.3951T>C (p.Ile1317=)
Xg.31203991A>TCA515856864DMDc.4623T>A (p.Ile1541=)
c.573T>A (p.Ile191=)
n.575T>A
c.2397T>A (p.Ile799=)
n.1294T>A
n.876T>A
n.1295T>A
n.3269T>A
c.1632T>A (p.Ile544=)
c.9777T>A (p.Ile3259=)
c.5745T>A (p.Ile1915=)
c.450T>A (p.Ile150=)
c.516T>A (p.Ile172=)
n.707T>A
c.1590T>A (p.Ile530=)
c.2865T>A (p.Ile955=)
c.9765T>A (p.Ile3255=)
c.147T>A (p.Ile49=)
c.9762T>A (p.Ile3254=)
c.9774T>A (p.Ile3258=)
c.9753T>A (p.Ile3251=)
c.9408T>A (p.Ile3136=)
c.5754T>A (p.Ile1918=)
c.9648T>A (p.Ile3216=)
c.9639T>A (p.Ile3213=)
c.9654T>A (p.Ile3218=)
c.3951T>A (p.Ile1317=)
Xg.31203992delCA2695232290DMDc.4623del (p.Ile1541MetfsTer24)
c.573del (p.Ile191MetfsTer24)
n.575del
c.2397del (p.Ile799MetfsTer24)
n.1294del
n.876del
n.1295del
n.3269del
c.1632del (p.Ile544MetfsTer24)
c.9777del (p.Ile3259MetfsTer24)
c.5745del (p.Ile1915MetfsTer24)
c.573del (p.Ile191MetfsTer?)
c.450del (p.Ile150MetfsTer24)
c.573del (p.Ile191MetfsTer12)
c.516del (p.Ile172MetfsTer24)
c.2397del (p.Ile799MetfsTer?)
c.573del (p.Ile191MetfsTer25)
n.707del
c.1590del (p.Ile530MetfsTer24)
c.2865del (p.Ile955MetfsTer24)
c.9765del (p.Ile3255MetfsTer24)
c.147del (p.Ile49MetfsTer24)
c.9762del (p.Ile3254MetfsTer24)
c.9774del (p.Ile3258MetfsTer24)
c.9753del (p.Ile3251MetfsTer24)
c.9408del (p.Ile3136MetfsTer24)
c.5754del (p.Ile1918MetfsTer24)
c.9648del (p.Ile3216MetfsTer24)
c.9639del (p.Ile3213MetfsTer24)
c.9654del (p.Ile3218MetfsTer24)
c.9777del (p.Ile3259MetfsTer25)
c.3951del (p.Ile1317MetfsTer24)
Xg.31203992A>CCA412648411DMDc.4622T>G (p.Ile1541Ser)
c.572T>G (p.Ile191Ser)
n.574T>G
c.2396T>G (p.Ile799Ser)
n.1293T>G
n.875T>G
n.1294T>G
n.3268T>G
c.1631T>G (p.Ile544Ser)
c.9776T>G (p.Ile3259Ser)
c.5744T>G (p.Ile1915Ser)
c.449T>G (p.Ile150Ser)
c.515T>G (p.Ile172Ser)
n.706T>G
c.1589T>G (p.Ile530Ser)
c.2864T>G (p.Ile955Ser)
c.9764T>G (p.Ile3255Ser)
c.146T>G (p.Ile49Ser)
c.9761T>G (p.Ile3254Ser)
c.9773T>G (p.Ile3258Ser)
c.9752T>G (p.Ile3251Ser)
c.9407T>G (p.Ile3136Ser)
c.5753T>G (p.Ile1918Ser)
c.9647T>G (p.Ile3216Ser)
c.9638T>G (p.Ile3213Ser)
c.9653T>G (p.Ile3218Ser)
c.3950T>G (p.Ile1317Ser)
Xg.31203992A>GCA412648409DMDc.4622T>C (p.Ile1541Thr)
c.572T>C (p.Ile191Thr)
n.574T>C
c.2396T>C (p.Ile799Thr)
n.1293T>C
n.875T>C
n.1294T>C
n.3268T>C
c.1631T>C (p.Ile544Thr)
c.9776T>C (p.Ile3259Thr)
c.5744T>C (p.Ile1915Thr)
c.449T>C (p.Ile150Thr)
c.515T>C (p.Ile172Thr)
n.706T>C
c.1589T>C (p.Ile530Thr)
c.2864T>C (p.Ile955Thr)
c.9764T>C (p.Ile3255Thr)
c.146T>C (p.Ile49Thr)
c.9761T>C (p.Ile3254Thr)
c.9773T>C (p.Ile3258Thr)
c.9752T>C (p.Ile3251Thr)
c.9407T>C (p.Ile3136Thr)
c.5753T>C (p.Ile1918Thr)
c.9647T>C (p.Ile3216Thr)
c.9638T>C (p.Ile3213Thr)
c.9653T>C (p.Ile3218Thr)
c.3950T>C (p.Ile1317Thr)
Xg.31203992A>TCA412648410DMDc.4622T>A (p.Ile1541Asn)
c.572T>A (p.Ile191Asn)
n.574T>A
c.2396T>A (p.Ile799Asn)
n.1293T>A
n.875T>A
n.1294T>A
n.3268T>A
c.1631T>A (p.Ile544Asn)
c.9776T>A (p.Ile3259Asn)
c.5744T>A (p.Ile1915Asn)
c.449T>A (p.Ile150Asn)
c.515T>A (p.Ile172Asn)
n.706T>A
c.1589T>A (p.Ile530Asn)
c.2864T>A (p.Ile955Asn)
c.9764T>A (p.Ile3255Asn)
c.146T>A (p.Ile49Asn)
c.9761T>A (p.Ile3254Asn)
c.9773T>A (p.Ile3258Asn)
c.9752T>A (p.Ile3251Asn)
c.9407T>A (p.Ile3136Asn)
c.5753T>A (p.Ile1918Asn)
c.9647T>A (p.Ile3216Asn)
c.9638T>A (p.Ile3213Asn)
c.9653T>A (p.Ile3218Asn)
c.3950T>A (p.Ile1317Asn)
Xg.31203993T>ACA412648412DMDc.4621A>T (p.Ile1541Phe)
c.571A>T (p.Ile191Phe)
n.573A>T
c.2395A>T (p.Ile799Phe)
n.1292A>T
n.874A>T
n.1293A>T
n.3267A>T
c.1630A>T (p.Ile544Phe)
c.9775A>T (p.Ile3259Phe)
c.5743A>T (p.Ile1915Phe)
c.448A>T (p.Ile150Phe)
c.514A>T (p.Ile172Phe)
n.705A>T
c.1588A>T (p.Ile530Phe)
c.2863A>T (p.Ile955Phe)
c.9763A>T (p.Ile3255Phe)
c.145A>T (p.Ile49Phe)
c.9760A>T (p.Ile3254Phe)
c.9772A>T (p.Ile3258Phe)
c.9751A>T (p.Ile3251Phe)
c.9406A>T (p.Ile3136Phe)
c.5752A>T (p.Ile1918Phe)
c.9646A>T (p.Ile3216Phe)
c.9637A>T (p.Ile3213Phe)
c.9652A>T (p.Ile3218Phe)
c.3949A>T (p.Ile1317Phe)
Xg.31203993T>CCA412648413DMDc.4621A>G (p.Ile1541Val)
c.571A>G (p.Ile191Val)
n.573A>G
c.2395A>G (p.Ile799Val)
n.1292A>G
n.874A>G
n.1293A>G
n.3267A>G
c.1630A>G (p.Ile544Val)
c.9775A>G (p.Ile3259Val)
c.5743A>G (p.Ile1915Val)
c.448A>G (p.Ile150Val)
c.514A>G (p.Ile172Val)
n.705A>G
c.1588A>G (p.Ile530Val)
c.2863A>G (p.Ile955Val)
c.9763A>G (p.Ile3255Val)
c.145A>G (p.Ile49Val)
c.9760A>G (p.Ile3254Val)
c.9772A>G (p.Ile3258Val)
c.9751A>G (p.Ile3251Val)
c.9406A>G (p.Ile3136Val)
c.5752A>G (p.Ile1918Val)
c.9646A>G (p.Ile3216Val)
c.9637A>G (p.Ile3213Val)
c.9652A>G (p.Ile3218Val)
c.3949A>G (p.Ile1317Val)
Xg.31203993T>GCA412648414DMDc.4621A>C (p.Ile1541Leu)
c.571A>C (p.Ile191Leu)
n.573A>C
c.2395A>C (p.Ile799Leu)
n.1292A>C
n.874A>C
n.1293A>C
n.3267A>C
c.1630A>C (p.Ile544Leu)
c.9775A>C (p.Ile3259Leu)
c.5743A>C (p.Ile1915Leu)
c.448A>C (p.Ile150Leu)
c.514A>C (p.Ile172Leu)
n.705A>C
c.1588A>C (p.Ile530Leu)
c.2863A>C (p.Ile955Leu)
c.9763A>C (p.Ile3255Leu)
c.145A>C (p.Ile49Leu)
c.9760A>C (p.Ile3254Leu)
c.9772A>C (p.Ile3258Leu)
c.9751A>C (p.Ile3251Leu)
c.9406A>C (p.Ile3136Leu)
c.5752A>C (p.Ile1918Leu)
c.9646A>C (p.Ile3216Leu)
c.9637A>C (p.Ile3213Leu)
c.9652A>C (p.Ile3218Leu)
c.3949A>C (p.Ile1317Leu)
Xg.31203994G>ACA515856868DMDc.4620C>T (p.Asn1540=)
c.570C>T (p.Asn190=)
n.572C>T
c.2394C>T (p.Asn798=)
n.1291C>T
n.873C>T
n.1292C>T
n.3266C>T
c.1629C>T (p.Asn543=)
c.9774C>T (p.Asn3258=)
c.5742C>T (p.Asn1914=)
c.447C>T (p.Asn149=)
c.513C>T (p.Asn171=)
n.704C>T
c.1587C>T (p.Asn529=)
c.2862C>T (p.Asn954=)
c.9762C>T (p.Asn3254=)
c.144C>T (p.Asn48=)
c.9759C>T (p.Asn3253=)
c.9771C>T (p.Asn3257=)
c.9750C>T (p.Asn3250=)
c.9405C>T (p.Asn3135=)
c.5751C>T (p.Asn1917=)
c.9645C>T (p.Asn3215=)
c.9636C>T (p.Asn3212=)
c.9651C>T (p.Asn3217=)
c.3948C>T (p.Asn1316=)
Xg.31203994G>CCA412648415DMDc.4620C>G (p.Asn1540Lys)
c.570C>G (p.Asn190Lys)
n.572C>G
c.2394C>G (p.Asn798Lys)
n.1291C>G
n.873C>G
n.1292C>G
n.3266C>G
c.1629C>G (p.Asn543Lys)
c.9774C>G (p.Asn3258Lys)
c.5742C>G (p.Asn1914Lys)
c.447C>G (p.Asn149Lys)
c.513C>G (p.Asn171Lys)
n.704C>G
c.1587C>G (p.Asn529Lys)
c.2862C>G (p.Asn954Lys)
c.9762C>G (p.Asn3254Lys)
c.144C>G (p.Asn48Lys)
c.9759C>G (p.Asn3253Lys)
c.9771C>G (p.Asn3257Lys)
c.9750C>G (p.Asn3250Lys)
c.9405C>G (p.Asn3135Lys)
c.5751C>G (p.Asn1917Lys)
c.9645C>G (p.Asn3215Lys)
c.9636C>G (p.Asn3212Lys)
c.9651C>G (p.Asn3217Lys)
c.3948C>G (p.Asn1316Lys)
Xg.31203994G>TCA412648416DMDc.4620C>A (p.Asn1540Lys)
c.570C>A (p.Asn190Lys)
n.572C>A
c.2394C>A (p.Asn798Lys)
n.1291C>A
n.873C>A
n.1292C>A
n.3266C>A
c.1629C>A (p.Asn543Lys)
c.9774C>A (p.Asn3258Lys)
c.5742C>A (p.Asn1914Lys)
c.447C>A (p.Asn149Lys)
c.513C>A (p.Asn171Lys)
n.704C>A
c.1587C>A (p.Asn529Lys)
c.2862C>A (p.Asn954Lys)
c.9762C>A (p.Asn3254Lys)
c.144C>A (p.Asn48Lys)
c.9759C>A (p.Asn3253Lys)
c.9771C>A (p.Asn3257Lys)
c.9750C>A (p.Asn3250Lys)
c.9405C>A (p.Asn3135Lys)
c.5751C>A (p.Asn1917Lys)
c.9645C>A (p.Asn3215Lys)
c.9636C>A (p.Asn3212Lys)
c.9651C>A (p.Asn3217Lys)
c.3948C>A (p.Asn1316Lys)
 ClinVar
Xg.31203995T>ACA412648417DMDc.4619A>T (p.Asn1540Ile)
c.569A>T (p.Asn190Ile)
n.571A>T
c.2393A>T (p.Asn798Ile)
n.1290A>T
n.872A>T
n.1291A>T
n.3265A>T
c.1628A>T (p.Asn543Ile)
c.9773A>T (p.Asn3258Ile)
c.5741A>T (p.Asn1914Ile)
c.446A>T (p.Asn149Ile)
c.512A>T (p.Asn171Ile)
n.703A>T
c.1586A>T (p.Asn529Ile)
c.2861A>T (p.Asn954Ile)
c.9761A>T (p.Asn3254Ile)
c.143A>T (p.Asn48Ile)
c.9758A>T (p.Asn3253Ile)
c.9770A>T (p.Asn3257Ile)
c.9749A>T (p.Asn3250Ile)
c.9404A>T (p.Asn3135Ile)
c.5750A>T (p.Asn1917Ile)
c.9644A>T (p.Asn3215Ile)
c.9635A>T (p.Asn3212Ile)
c.9650A>T (p.Asn3217Ile)
c.3947A>T (p.Asn1316Ile)
Xg.31203995T>CCA412648418DMDc.4619A>G (p.Asn1540Ser)
c.569A>G (p.Asn190Ser)
n.571A>G
c.2393A>G (p.Asn798Ser)
n.1290A>G
n.872A>G
n.1291A>G
n.3265A>G
c.1628A>G (p.Asn543Ser)
c.9773A>G (p.Asn3258Ser)
c.5741A>G (p.Asn1914Ser)
c.446A>G (p.Asn149Ser)
c.512A>G (p.Asn171Ser)
n.703A>G
c.1586A>G (p.Asn529Ser)
c.2861A>G (p.Asn954Ser)
c.9761A>G (p.Asn3254Ser)
c.143A>G (p.Asn48Ser)
c.9758A>G (p.Asn3253Ser)
c.9770A>G (p.Asn3257Ser)
c.9749A>G (p.Asn3250Ser)
c.9404A>G (p.Asn3135Ser)
c.5750A>G (p.Asn1917Ser)
c.9644A>G (p.Asn3215Ser)
c.9635A>G (p.Asn3212Ser)
c.9650A>G (p.Asn3217Ser)
c.3947A>G (p.Asn1316Ser)
Xg.31203995T>GCA412648419DMDc.4619A>C (p.Asn1540Thr)
c.569A>C (p.Asn190Thr)
n.571A>C
c.2393A>C (p.Asn798Thr)
n.1290A>C
n.872A>C
n.1291A>C
n.3265A>C
c.1628A>C (p.Asn543Thr)
c.9773A>C (p.Asn3258Thr)
c.5741A>C (p.Asn1914Thr)
c.446A>C (p.Asn149Thr)
c.512A>C (p.Asn171Thr)
n.703A>C
c.1586A>C (p.Asn529Thr)
c.2861A>C (p.Asn954Thr)
c.9761A>C (p.Asn3254Thr)
c.143A>C (p.Asn48Thr)
c.9758A>C (p.Asn3253Thr)
c.9770A>C (p.Asn3257Thr)
c.9749A>C (p.Asn3250Thr)
c.9404A>C (p.Asn3135Thr)
c.5750A>C (p.Asn1917Thr)
c.9644A>C (p.Asn3215Thr)
c.9635A>C (p.Asn3212Thr)
c.9650A>C (p.Asn3217Thr)
c.3947A>C (p.Asn1316Thr)
Xg.31203996T>ACA412648420DMDc.4618A>T (p.Asn1540Tyr)
c.568A>T (p.Asn190Tyr)
n.570A>T
c.2392A>T (p.Asn798Tyr)
n.1289A>T
n.871A>T
n.1290A>T
n.3264A>T
c.1627A>T (p.Asn543Tyr)
c.9772A>T (p.Asn3258Tyr)
c.5740A>T (p.Asn1914Tyr)
c.445A>T (p.Asn149Tyr)
c.511A>T (p.Asn171Tyr)
n.702A>T
c.1585A>T (p.Asn529Tyr)
c.2860A>T (p.Asn954Tyr)
c.9760A>T (p.Asn3254Tyr)
c.142A>T (p.Asn48Tyr)
c.9757A>T (p.Asn3253Tyr)
c.9769A>T (p.Asn3257Tyr)
c.9748A>T (p.Asn3250Tyr)
c.9403A>T (p.Asn3135Tyr)
c.5749A>T (p.Asn1917Tyr)
c.9643A>T (p.Asn3215Tyr)
c.9634A>T (p.Asn3212Tyr)
c.9649A>T (p.Asn3217Tyr)
c.3946A>T (p.Asn1316Tyr)
Xg.31203996T>CCA412648421DMDc.4618A>G (p.Asn1540Asp)
c.568A>G (p.Asn190Asp)
n.570A>G
c.2392A>G (p.Asn798Asp)
n.1289A>G
n.871A>G
n.1290A>G
n.3264A>G
c.1627A>G (p.Asn543Asp)
c.9772A>G (p.Asn3258Asp)
c.5740A>G (p.Asn1914Asp)
c.445A>G (p.Asn149Asp)
c.511A>G (p.Asn171Asp)
n.702A>G
c.1585A>G (p.Asn529Asp)
c.2860A>G (p.Asn954Asp)
c.9760A>G (p.Asn3254Asp)
c.142A>G (p.Asn48Asp)
c.9757A>G (p.Asn3253Asp)
c.9769A>G (p.Asn3257Asp)
c.9748A>G (p.Asn3250Asp)
c.9403A>G (p.Asn3135Asp)
c.5749A>G (p.Asn1917Asp)
c.9643A>G (p.Asn3215Asp)
c.9634A>G (p.Asn3212Asp)
c.9649A>G (p.Asn3217Asp)
c.3946A>G (p.Asn1316Asp)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31203996T>GCA412648422DMDc.4618A>C (p.Asn1540His)
c.568A>C (p.Asn190His)
n.570A>C
c.2392A>C (p.Asn798His)
n.1289A>C
n.871A>C
n.1290A>C
n.3264A>C
c.1627A>C (p.Asn543His)
c.9772A>C (p.Asn3258His)
c.5740A>C (p.Asn1914His)
c.445A>C (p.Asn149His)
c.511A>C (p.Asn171His)
n.702A>C
c.1585A>C (p.Asn529His)
c.2860A>C (p.Asn954His)
c.9760A>C (p.Asn3254His)
c.142A>C (p.Asn48His)
c.9757A>C (p.Asn3253His)
c.9769A>C (p.Asn3257His)
c.9748A>C (p.Asn3250His)
c.9403A>C (p.Asn3135His)
c.5749A>C (p.Asn1917His)
c.9643A>C (p.Asn3215His)
c.9634A>C (p.Asn3212His)
c.9649A>C (p.Asn3217His)
c.3946A>C (p.Asn1316His)
Xg.31203997A>CCA412648424DMDc.4617T>G (p.Ser1539Arg)
c.567T>G (p.Ser189Arg)
n.569T>G
c.2391T>G (p.Ser797Arg)
n.1288T>G
n.870T>G
n.1289T>G
n.3263T>G
c.1626T>G (p.Ser542Arg)
c.9771T>G (p.Ser3257Arg)
c.5739T>G (p.Ser1913Arg)
c.444T>G (p.Ser148Arg)
c.510T>G (p.Ser170Arg)
n.701T>G
c.1584T>G (p.Ser528Arg)
c.2859T>G (p.Ser953Arg)
c.9759T>G (p.Ser3253Arg)
c.141T>G (p.Ser47Arg)
c.9756T>G (p.Ser3252Arg)
c.9768T>G (p.Ser3256Arg)
c.9747T>G (p.Ser3249Arg)
c.9402T>G (p.Ser3134Arg)
c.5748T>G (p.Ser1916Arg)
c.9642T>G (p.Ser3214Arg)
c.9633T>G (p.Ser3211Arg)
c.9648T>G (p.Ser3216Arg)
c.3945T>G (p.Ser1315Arg)
Xg.31203997A>GCA515856870DMDc.4617T>C (p.Ser1539=)
c.567T>C (p.Ser189=)
n.569T>C
c.2391T>C (p.Ser797=)
n.1288T>C
n.870T>C
n.1289T>C
n.3263T>C
c.1626T>C (p.Ser542=)
c.9771T>C (p.Ser3257=)
c.5739T>C (p.Ser1913=)
c.444T>C (p.Ser148=)
c.510T>C (p.Ser170=)
n.701T>C
c.1584T>C (p.Ser528=)
c.2859T>C (p.Ser953=)
c.9759T>C (p.Ser3253=)
c.141T>C (p.Ser47=)
c.9756T>C (p.Ser3252=)
c.9768T>C (p.Ser3256=)
c.9747T>C (p.Ser3249=)
c.9402T>C (p.Ser3134=)
c.5748T>C (p.Ser1916=)
c.9642T>C (p.Ser3214=)
c.9633T>C (p.Ser3211=)
c.9648T>C (p.Ser3216=)
c.3945T>C (p.Ser1315=)
Xg.31203997A>TCA412648425DMDc.4617T>A (p.Ser1539Arg)
c.567T>A (p.Ser189Arg)
n.569T>A
c.2391T>A (p.Ser797Arg)
n.1288T>A
n.870T>A
n.1289T>A
n.3263T>A
c.1626T>A (p.Ser542Arg)
c.9771T>A (p.Ser3257Arg)
c.5739T>A (p.Ser1913Arg)
c.444T>A (p.Ser148Arg)
c.510T>A (p.Ser170Arg)
n.701T>A
c.1584T>A (p.Ser528Arg)
c.2859T>A (p.Ser953Arg)
c.9759T>A (p.Ser3253Arg)
c.141T>A (p.Ser47Arg)
c.9756T>A (p.Ser3252Arg)
c.9768T>A (p.Ser3256Arg)
c.9747T>A (p.Ser3249Arg)
c.9402T>A (p.Ser3134Arg)
c.5748T>A (p.Ser1916Arg)
c.9642T>A (p.Ser3214Arg)
c.9633T>A (p.Ser3211Arg)
c.9648T>A (p.Ser3216Arg)
c.3945T>A (p.Ser1315Arg)
Xg.31203998C>ACA412648428DMDc.4616G>T (p.Ser1539Ile)
c.566G>T (p.Ser189Ile)
n.568G>T
c.2390G>T (p.Ser797Ile)
n.1287G>T
n.869G>T
n.1288G>T
n.3262G>T
c.1625G>T (p.Ser542Ile)
c.9770G>T (p.Ser3257Ile)
c.5738G>T (p.Ser1913Ile)
c.443G>T (p.Ser148Ile)
c.509G>T (p.Ser170Ile)
n.700G>T
c.1583G>T (p.Ser528Ile)
c.2858G>T (p.Ser953Ile)
c.9758G>T (p.Ser3253Ile)
c.140G>T (p.Ser47Ile)
c.9755G>T (p.Ser3252Ile)
c.9767G>T (p.Ser3256Ile)
c.9746G>T (p.Ser3249Ile)
c.9401G>T (p.Ser3134Ile)
c.5747G>T (p.Ser1916Ile)
c.9641G>T (p.Ser3214Ile)
c.9632G>T (p.Ser3211Ile)
c.9647G>T (p.Ser3216Ile)
c.3944G>T (p.Ser1315Ile)
Xg.31203998C>GCA412648430DMDc.4616G>C (p.Ser1539Thr)
c.566G>C (p.Ser189Thr)
n.568G>C
c.2390G>C (p.Ser797Thr)
n.1287G>C
n.869G>C
n.1288G>C
n.3262G>C
c.1625G>C (p.Ser542Thr)
c.9770G>C (p.Ser3257Thr)
c.5738G>C (p.Ser1913Thr)
c.443G>C (p.Ser148Thr)
c.509G>C (p.Ser170Thr)
n.700G>C
c.1583G>C (p.Ser528Thr)
c.2858G>C (p.Ser953Thr)
c.9758G>C (p.Ser3253Thr)
c.140G>C (p.Ser47Thr)
c.9755G>C (p.Ser3252Thr)
c.9767G>C (p.Ser3256Thr)
c.9746G>C (p.Ser3249Thr)
c.9401G>C (p.Ser3134Thr)
c.5747G>C (p.Ser1916Thr)
c.9641G>C (p.Ser3214Thr)
c.9632G>C (p.Ser3211Thr)
c.9647G>C (p.Ser3216Thr)
c.3944G>C (p.Ser1315Thr)
 gnomAD v4
Xg.31203998C>TCA412648427DMDc.4616G>A (p.Ser1539Asn)
c.566G>A (p.Ser189Asn)
n.568G>A
c.2390G>A (p.Ser797Asn)
n.1287G>A
n.869G>A
n.1288G>A
n.3262G>A
c.1625G>A (p.Ser542Asn)
c.9770G>A (p.Ser3257Asn)
c.5738G>A (p.Ser1913Asn)
c.443G>A (p.Ser148Asn)
c.509G>A (p.Ser170Asn)
n.700G>A
c.1583G>A (p.Ser528Asn)
c.2858G>A (p.Ser953Asn)
c.9758G>A (p.Ser3253Asn)
c.140G>A (p.Ser47Asn)
c.9755G>A (p.Ser3252Asn)
c.9767G>A (p.Ser3256Asn)
c.9746G>A (p.Ser3249Asn)
c.9401G>A (p.Ser3134Asn)
c.5747G>A (p.Ser1916Asn)
c.9641G>A (p.Ser3214Asn)
c.9632G>A (p.Ser3211Asn)
c.9647G>A (p.Ser3216Asn)
c.3944G>A (p.Ser1315Asn)
Xg.31203999T>ACA412648431DMDc.4615A>T (p.Ser1539Cys)
c.565A>T (p.Ser189Cys)
n.567A>T
c.2389A>T (p.Ser797Cys)
n.1286A>T
n.868A>T
n.1287A>T
n.3261A>T
c.1624A>T (p.Ser542Cys)
c.9769A>T (p.Ser3257Cys)
c.5737A>T (p.Ser1913Cys)
c.442A>T (p.Ser148Cys)
c.508A>T (p.Ser170Cys)
n.699A>T
c.1582A>T (p.Ser528Cys)
c.2857A>T (p.Ser953Cys)
c.9757A>T (p.Ser3253Cys)
c.139A>T (p.Ser47Cys)
c.9754A>T (p.Ser3252Cys)
c.9766A>T (p.Ser3256Cys)
c.9745A>T (p.Ser3249Cys)
c.9400A>T (p.Ser3134Cys)
c.5746A>T (p.Ser1916Cys)
c.9640A>T (p.Ser3214Cys)
c.9631A>T (p.Ser3211Cys)
c.9646A>T (p.Ser3216Cys)
c.3943A>T (p.Ser1315Cys)
Xg.31203999T>CCA412648432DMDc.4615A>G (p.Ser1539Gly)
c.565A>G (p.Ser189Gly)
n.567A>G
c.2389A>G (p.Ser797Gly)
n.1286A>G
n.868A>G
n.1287A>G
n.3261A>G
c.1624A>G (p.Ser542Gly)
c.9769A>G (p.Ser3257Gly)
c.5737A>G (p.Ser1913Gly)
c.442A>G (p.Ser148Gly)
c.508A>G (p.Ser170Gly)
n.699A>G
c.1582A>G (p.Ser528Gly)
c.2857A>G (p.Ser953Gly)
c.9757A>G (p.Ser3253Gly)
c.139A>G (p.Ser47Gly)
c.9754A>G (p.Ser3252Gly)
c.9766A>G (p.Ser3256Gly)
c.9745A>G (p.Ser3249Gly)
c.9400A>G (p.Ser3134Gly)
c.5746A>G (p.Ser1916Gly)
c.9640A>G (p.Ser3214Gly)
c.9631A>G (p.Ser3211Gly)
c.9646A>G (p.Ser3216Gly)
c.3943A>G (p.Ser1315Gly)
 ClinVar dbSNP
Xg.31203999T>GCA412648433DMDc.4615A>C (p.Ser1539Arg)
c.565A>C (p.Ser189Arg)
n.567A>C
c.2389A>C (p.Ser797Arg)
n.1286A>C
n.868A>C
n.1287A>C
n.3261A>C
c.1624A>C (p.Ser542Arg)
c.9769A>C (p.Ser3257Arg)
c.5737A>C (p.Ser1913Arg)
c.442A>C (p.Ser148Arg)
c.508A>C (p.Ser170Arg)
n.699A>C
c.1582A>C (p.Ser528Arg)
c.2857A>C (p.Ser953Arg)
c.9757A>C (p.Ser3253Arg)
c.139A>C (p.Ser47Arg)
c.9754A>C (p.Ser3252Arg)
c.9766A>C (p.Ser3256Arg)
c.9745A>C (p.Ser3249Arg)
c.9400A>C (p.Ser3134Arg)
c.5746A>C (p.Ser1916Arg)
c.9640A>C (p.Ser3214Arg)
c.9631A>C (p.Ser3211Arg)
c.9646A>C (p.Ser3216Arg)
c.3943A>C (p.Ser1315Arg)
Xg.31204000G>ACA515856873DMDc.4614C>T (p.Gly1538=)
c.564C>T (p.Gly188=)
n.566C>T
c.2388C>T (p.Gly796=)
n.1285C>T
n.867C>T
n.1286C>T
n.3260C>T
c.1623C>T (p.Gly541=)
c.9768C>T (p.Gly3256=)
c.5736C>T (p.Gly1912=)
c.441C>T (p.Gly147=)
c.507C>T (p.Gly169=)
n.698C>T
c.1581C>T (p.Gly527=)
c.2856C>T (p.Gly952=)
c.9756C>T (p.Gly3252=)
c.138C>T (p.Gly46=)
c.9753C>T (p.Gly3251=)
c.9765C>T (p.Gly3255=)
c.9744C>T (p.Gly3248=)
c.9399C>T (p.Gly3133=)
c.5745C>T (p.Gly1915=)
c.9639C>T (p.Gly3213=)
c.9630C>T (p.Gly3210=)
c.9645C>T (p.Gly3215=)
c.3942C>T (p.Gly1314=)
 ClinVar
Xg.31204000G>CCA515856872DMDc.4614C>G (p.Gly1538=)
c.564C>G (p.Gly188=)
n.566C>G
c.2388C>G (p.Gly796=)
n.1285C>G
n.867C>G
n.1286C>G
n.3260C>G
c.1623C>G (p.Gly541=)
c.9768C>G (p.Gly3256=)
c.5736C>G (p.Gly1912=)
c.441C>G (p.Gly147=)
c.507C>G (p.Gly169=)
n.698C>G
c.1581C>G (p.Gly527=)
c.2856C>G (p.Gly952=)
c.9756C>G (p.Gly3252=)
c.138C>G (p.Gly46=)
c.9753C>G (p.Gly3251=)
c.9765C>G (p.Gly3255=)
c.9744C>G (p.Gly3248=)
c.9399C>G (p.Gly3133=)
c.5745C>G (p.Gly1915=)
c.9639C>G (p.Gly3213=)
c.9630C>G (p.Gly3210=)
c.9645C>G (p.Gly3215=)
c.3942C>G (p.Gly1314=)
Xg.31204000G=CA2422347564DMDc.4614C= (p.Gly1538=)
c.564C= (p.Gly188=)
n.566C=
c.2388C= (p.Gly796=)
n.1285C=
n.867C=
n.1286C=
n.3260C=
c.1623C= (p.Gly541=)
c.9768C= (p.Gly3256=)
c.5736C= (p.Gly1912=)
c.441C= (p.Gly147=)
c.507C= (p.Gly169=)
n.698C=
c.1581C= (p.Gly527=)
c.2856C= (p.Gly952=)
c.9756C= (p.Gly3252=)
c.138C= (p.Gly46=)
c.9753C= (p.Gly3251=)
c.9765C= (p.Gly3255=)
c.9744C= (p.Gly3248=)
c.9399C= (p.Gly3133=)
c.5745C= (p.Gly1915=)
c.9639C= (p.Gly3213=)
c.9630C= (p.Gly3210=)
c.9645C= (p.Gly3215=)
c.3942C= (p.Gly1314=)
Xg.31204000G>TCA515856871DMDc.4614C>A (p.Gly1538=)
c.564C>A (p.Gly188=)
n.566C>A
c.2388C>A (p.Gly796=)
n.1285C>A
n.867C>A
n.1286C>A
n.3260C>A
c.1623C>A (p.Gly541=)
c.9768C>A (p.Gly3256=)
c.5736C>A (p.Gly1912=)
c.441C>A (p.Gly147=)
c.507C>A (p.Gly169=)
n.698C>A
c.1581C>A (p.Gly527=)
c.2856C>A (p.Gly952=)
c.9756C>A (p.Gly3252=)
c.138C>A (p.Gly46=)
c.9753C>A (p.Gly3251=)
c.9765C>A (p.Gly3255=)
c.9744C>A (p.Gly3248=)
c.9399C>A (p.Gly3133=)
c.5745C>A (p.Gly1915=)
c.9639C>A (p.Gly3213=)
c.9630C>A (p.Gly3210=)
c.9645C>A (p.Gly3215=)
c.3942C>A (p.Gly1314=)
 gnomAD v4
Xg.31204001C>ACA412648436DMDc.4613G>T (p.Gly1538Val)
c.563G>T (p.Gly188Val)
n.565G>T
c.2387G>T (p.Gly796Val)
n.1284G>T
n.866G>T
n.1285G>T
n.3259G>T
c.1622G>T (p.Gly541Val)
c.9767G>T (p.Gly3256Val)
c.5735G>T (p.Gly1912Val)
c.440G>T (p.Gly147Val)
c.506G>T (p.Gly169Val)
n.697G>T
c.1580G>T (p.Gly527Val)
c.2855G>T (p.Gly952Val)
c.9755G>T (p.Gly3252Val)
c.137G>T (p.Gly46Val)
c.9752G>T (p.Gly3251Val)
c.9764G>T (p.Gly3255Val)
c.9743G>T (p.Gly3248Val)
c.9398G>T (p.Gly3133Val)
c.5744G>T (p.Gly1915Val)
c.9638G>T (p.Gly3213Val)
c.9629G>T (p.Gly3210Val)
c.9644G>T (p.Gly3215Val)
c.3941G>T (p.Gly1314Val)
Xg.31204001C>GCA412648437DMDc.4613G>C (p.Gly1538Ala)
c.563G>C (p.Gly188Ala)
n.565G>C
c.2387G>C (p.Gly796Ala)
n.1284G>C
n.866G>C
n.1285G>C
n.3259G>C
c.1622G>C (p.Gly541Ala)
c.9767G>C (p.Gly3256Ala)
c.5735G>C (p.Gly1912Ala)
c.440G>C (p.Gly147Ala)
c.506G>C (p.Gly169Ala)
n.697G>C
c.1580G>C (p.Gly527Ala)
c.2855G>C (p.Gly952Ala)
c.9755G>C (p.Gly3252Ala)
c.137G>C (p.Gly46Ala)
c.9752G>C (p.Gly3251Ala)
c.9764G>C (p.Gly3255Ala)
c.9743G>C (p.Gly3248Ala)
c.9398G>C (p.Gly3133Ala)
c.5744G>C (p.Gly1915Ala)
c.9638G>C (p.Gly3213Ala)
c.9629G>C (p.Gly3210Ala)
c.9644G>C (p.Gly3215Ala)
c.3941G>C (p.Gly1314Ala)
 gnomAD v4
Xg.31204001C>TCA412648439DMDc.4613G>A (p.Gly1538Asp)
c.563G>A (p.Gly188Asp)
n.565G>A
c.2387G>A (p.Gly796Asp)
n.1284G>A
n.866G>A
n.1285G>A
n.3259G>A
c.1622G>A (p.Gly541Asp)
c.9767G>A (p.Gly3256Asp)
c.5735G>A (p.Gly1912Asp)
c.440G>A (p.Gly147Asp)
c.506G>A (p.Gly169Asp)
n.697G>A
c.1580G>A (p.Gly527Asp)
c.2855G>A (p.Gly952Asp)
c.9755G>A (p.Gly3252Asp)
c.137G>A (p.Gly46Asp)
c.9752G>A (p.Gly3251Asp)
c.9764G>A (p.Gly3255Asp)
c.9743G>A (p.Gly3248Asp)
c.9398G>A (p.Gly3133Asp)
c.5744G>A (p.Gly1915Asp)
c.9638G>A (p.Gly3213Asp)
c.9629G>A (p.Gly3210Asp)
c.9644G>A (p.Gly3215Asp)
c.3941G>A (p.Gly1314Asp)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31204005dupCA267197DMDc.4613dup (p.Ser1539GlnfsTer2)
c.563dup (p.Ser189GlnfsTer2)
n.565dup
c.2387dup (p.Ser797GlnfsTer2)
n.1284dup
n.866dup
n.1285dup
n.3259dup
c.1622dup (p.Ser542GlnfsTer2)
c.9767dup (p.Ser3257GlnfsTer2)
c.5735dup (p.Ser1913GlnfsTer2)
c.440dup (p.Ser148GlnfsTer2)
c.506dup (p.Ser170GlnfsTer2)
n.697dup
c.1580dup (p.Ser528GlnfsTer2)
c.2855dup (p.Ser953GlnfsTer2)
c.9755dup (p.Ser3253GlnfsTer2)
c.137dup (p.Ser47GlnfsTer2)
c.9752dup (p.Ser3252GlnfsTer2)
c.9764dup (p.Ser3256GlnfsTer2)
c.9743dup (p.Ser3249GlnfsTer2)
c.9398dup (p.Ser3134GlnfsTer2)
c.5744dup (p.Ser1916GlnfsTer2)
c.9638dup (p.Ser3214GlnfsTer2)
c.9629dup (p.Ser3211GlnfsTer2)
c.9644dup (p.Ser3216GlnfsTer2)
c.3941dup (p.Ser1315GlnfsTer2)
 ClinVar dbSNP
Xg.31204005delCA2573158726DMDc.4613del (p.Gly1538AlafsTer27)
c.563del (p.Gly188AlafsTer27)
n.565del
c.2387del (p.Gly796AlafsTer27)
n.1284del
n.866del
n.1285del
n.3259del
c.1622del (p.Gly541AlafsTer27)
c.9767del (p.Gly3256AlafsTer27)
c.5735del (p.Gly1912AlafsTer27)
c.563del (p.Gly188AlafsTer?)
c.440del (p.Gly147AlafsTer27)
c.563del (p.Gly188AlafsTer15)
c.506del (p.Gly169AlafsTer27)
c.2387del (p.Gly796AlafsTer?)
c.563del (p.Gly188AlafsTer28)
n.697del
c.1580del (p.Gly527AlafsTer27)
c.2855del (p.Gly952AlafsTer27)
c.9755del (p.Gly3252AlafsTer27)
c.137del (p.Gly46AlafsTer27)
c.9752del (p.Gly3251AlafsTer27)
c.9764del (p.Gly3255AlafsTer27)
c.9743del (p.Gly3248AlafsTer27)
c.9398del (p.Gly3133AlafsTer27)
c.5744del (p.Gly1915AlafsTer27)
c.9638del (p.Gly3213AlafsTer27)
c.9629del (p.Gly3210AlafsTer27)
c.9644del (p.Gly3215AlafsTer27)
c.9767del (p.Gly3256AlafsTer28)
c.3941del (p.Gly1314AlafsTer27)
 ClinVar dbSNP
Xg.31204002_31204020dupCA2573158725DMDc.4595_4613dup (p.Asn1540CysfsTer7)
c.545_563dup (p.Asn190CysfsTer7)
n.547_565dup
c.2369_2387dup (p.Asn798CysfsTer7)
n.1266_1284dup
n.848_866dup
n.1267_1285dup
n.3241_3259dup
c.1604_1622dup (p.Asn543CysfsTer7)
c.9749_9767dup (p.Asn3258CysfsTer7)
c.5717_5735dup (p.Asn1914CysfsTer7)
c.422_440dup (p.Asn149CysfsTer7)
c.488_506dup (p.Asn171CysfsTer7)
n.679_697dup
c.1562_1580dup (p.Asn529CysfsTer7)
c.2837_2855dup (p.Asn954CysfsTer7)
c.9737_9755dup (p.Asn3254CysfsTer7)
c.119_137dup (p.Asn48CysfsTer7)
c.9734_9752dup (p.Asn3253CysfsTer7)
c.9746_9764dup (p.Asn3257CysfsTer7)
c.9725_9743dup (p.Asn3250CysfsTer7)
c.9380_9398dup (p.Asn3135CysfsTer7)
c.5726_5744dup (p.Asn1917CysfsTer7)
c.9620_9638dup (p.Asn3215CysfsTer7)
c.9611_9629dup (p.Asn3212CysfsTer7)
c.9626_9644dup (p.Asn3217CysfsTer7)
c.3923_3941dup (p.Asn1316CysfsTer7)
 ClinVar dbSNP
Xg.31204002C>ACA412648441DMDc.4612G>T (p.Gly1538Cys)
c.562G>T (p.Gly188Cys)
n.564G>T
c.2386G>T (p.Gly796Cys)
n.1283G>T
n.865G>T
n.1284G>T
n.3258G>T
c.1621G>T (p.Gly541Cys)
c.9766G>T (p.Gly3256Cys)
c.5734G>T (p.Gly1912Cys)
c.439G>T (p.Gly147Cys)
c.505G>T (p.Gly169Cys)
n.696G>T
c.1579G>T (p.Gly527Cys)
c.2854G>T (p.Gly952Cys)
c.9754G>T (p.Gly3252Cys)
c.136G>T (p.Gly46Cys)
c.9751G>T (p.Gly3251Cys)
c.9763G>T (p.Gly3255Cys)
c.9742G>T (p.Gly3248Cys)
c.9397G>T (p.Gly3133Cys)
c.5743G>T (p.Gly1915Cys)
c.9637G>T (p.Gly3213Cys)
c.9628G>T (p.Gly3210Cys)
c.9643G>T (p.Gly3215Cys)
c.3940G>T (p.Gly1314Cys)
Xg.31204002C>GCA412648442DMDc.4612G>C (p.Gly1538Arg)
c.562G>C (p.Gly188Arg)
n.564G>C
c.2386G>C (p.Gly796Arg)
n.1283G>C
n.865G>C
n.1284G>C
n.3258G>C
c.1621G>C (p.Gly541Arg)
c.9766G>C (p.Gly3256Arg)
c.5734G>C (p.Gly1912Arg)
c.439G>C (p.Gly147Arg)
c.505G>C (p.Gly169Arg)
n.696G>C
c.1579G>C (p.Gly527Arg)
c.2854G>C (p.Gly952Arg)
c.9754G>C (p.Gly3252Arg)
c.136G>C (p.Gly46Arg)
c.9751G>C (p.Gly3251Arg)
c.9763G>C (p.Gly3255Arg)
c.9742G>C (p.Gly3248Arg)
c.9397G>C (p.Gly3133Arg)
c.5743G>C (p.Gly1915Arg)
c.9637G>C (p.Gly3213Arg)
c.9628G>C (p.Gly3210Arg)
c.9643G>C (p.Gly3215Arg)
c.3940G>C (p.Gly1314Arg)
Xg.31204002C>TCA412648444DMDc.4612G>A (p.Gly1538Ser)
c.562G>A (p.Gly188Ser)
n.564G>A
c.2386G>A (p.Gly796Ser)
n.1283G>A
n.865G>A
n.1284G>A
n.3258G>A
c.1621G>A (p.Gly541Ser)
c.9766G>A (p.Gly3256Ser)
c.5734G>A (p.Gly1912Ser)
c.439G>A (p.Gly147Ser)
c.505G>A (p.Gly169Ser)
n.696G>A
c.1579G>A (p.Gly527Ser)
c.2854G>A (p.Gly952Ser)
c.9754G>A (p.Gly3252Ser)
c.136G>A (p.Gly46Ser)
c.9751G>A (p.Gly3251Ser)
c.9763G>A (p.Gly3255Ser)
c.9742G>A (p.Gly3248Ser)
c.9397G>A (p.Gly3133Ser)
c.5743G>A (p.Gly1915Ser)
c.9637G>A (p.Gly3213Ser)
c.9628G>A (p.Gly3210Ser)
c.9643G>A (p.Gly3215Ser)
c.3940G>A (p.Gly1314Ser)
Xg.31204003C>ACA515856875DMDc.4611G>T (p.Gly1537=)
c.561G>T (p.Gly187=)
n.563G>T
c.2385G>T (p.Gly795=)
n.1282G>T
n.864G>T
n.1283G>T
n.3257G>T
c.1620G>T (p.Gly540=)
c.9765G>T (p.Gly3255=)
c.5733G>T (p.Gly1911=)
c.438G>T (p.Gly146=)
c.504G>T (p.Gly168=)
n.695G>T
c.1578G>T (p.Gly526=)
c.2853G>T (p.Gly951=)
c.9753G>T (p.Gly3251=)
c.135G>T (p.Gly45=)
c.9750G>T (p.Gly3250=)
c.9762G>T (p.Gly3254=)
c.9741G>T (p.Gly3247=)
c.9396G>T (p.Gly3132=)
c.5742G>T (p.Gly1914=)
c.9636G>T (p.Gly3212=)
c.9627G>T (p.Gly3209=)
c.9642G>T (p.Gly3214=)
c.3939G>T (p.Gly1313=)
Xg.31204003C>GCA515856876DMDc.4611G>C (p.Gly1537=)
c.561G>C (p.Gly187=)
n.563G>C
c.2385G>C (p.Gly795=)
n.1282G>C
n.864G>C
n.1283G>C
n.3257G>C
c.1620G>C (p.Gly540=)
c.9765G>C (p.Gly3255=)
c.5733G>C (p.Gly1911=)
c.438G>C (p.Gly146=)
c.504G>C (p.Gly168=)
n.695G>C
c.1578G>C (p.Gly526=)
c.2853G>C (p.Gly951=)
c.9753G>C (p.Gly3251=)
c.135G>C (p.Gly45=)
c.9750G>C (p.Gly3250=)
c.9762G>C (p.Gly3254=)
c.9741G>C (p.Gly3247=)
c.9396G>C (p.Gly3132=)
c.5742G>C (p.Gly1914=)
c.9636G>C (p.Gly3212=)
c.9627G>C (p.Gly3209=)
c.9642G>C (p.Gly3214=)
c.3939G>C (p.Gly1313=)
Xg.31204003C>TCA515856878DMDc.4611G>A (p.Gly1537=)
c.561G>A (p.Gly187=)
n.563G>A
c.2385G>A (p.Gly795=)
n.1282G>A
n.864G>A
n.1283G>A
n.3257G>A
c.1620G>A (p.Gly540=)
c.9765G>A (p.Gly3255=)
c.5733G>A (p.Gly1911=)
c.438G>A (p.Gly146=)
c.504G>A (p.Gly168=)
n.695G>A
c.1578G>A (p.Gly526=)
c.2853G>A (p.Gly951=)
c.9753G>A (p.Gly3251=)
c.135G>A (p.Gly45=)
c.9750G>A (p.Gly3250=)
c.9762G>A (p.Gly3254=)
c.9741G>A (p.Gly3247=)
c.9396G>A (p.Gly3132=)
c.5742G>A (p.Gly1914=)
c.9636G>A (p.Gly3212=)
c.9627G>A (p.Gly3209=)
c.9642G>A (p.Gly3214=)
c.3939G>A (p.Gly1313=)
 ClinVar dbSNP gnomAD v4
Xg.31204004C>ACA412648446DMDc.4610G>T (p.Gly1537Val)
c.560G>T (p.Gly187Val)
n.562G>T
c.2384G>T (p.Gly795Val)
n.1281G>T
n.863G>T
n.1282G>T
n.3256G>T
c.1619G>T (p.Gly540Val)
c.9764G>T (p.Gly3255Val)
c.5732G>T (p.Gly1911Val)
c.437G>T (p.Gly146Val)
c.503G>T (p.Gly168Val)
n.694G>T
c.1577G>T (p.Gly526Val)
c.2852G>T (p.Gly951Val)
c.9752G>T (p.Gly3251Val)
c.134G>T (p.Gly45Val)
c.9749G>T (p.Gly3250Val)
c.9761G>T (p.Gly3254Val)
c.9740G>T (p.Gly3247Val)
c.9395G>T (p.Gly3132Val)
c.5741G>T (p.Gly1914Val)
c.9635G>T (p.Gly3212Val)
c.9626G>T (p.Gly3209Val)
c.9641G>T (p.Gly3214Val)
c.3938G>T (p.Gly1313Val)
Xg.31204004C>GCA412648447DMDc.4610G>C (p.Gly1537Ala)
c.560G>C (p.Gly187Ala)
n.562G>C
c.2384G>C (p.Gly795Ala)
n.1281G>C
n.863G>C
n.1282G>C
n.3256G>C
c.1619G>C (p.Gly540Ala)
c.9764G>C (p.Gly3255Ala)
c.5732G>C (p.Gly1911Ala)
c.437G>C (p.Gly146Ala)
c.503G>C (p.Gly168Ala)
n.694G>C
c.1577G>C (p.Gly526Ala)
c.2852G>C (p.Gly951Ala)
c.9752G>C (p.Gly3251Ala)
c.134G>C (p.Gly45Ala)
c.9749G>C (p.Gly3250Ala)
c.9761G>C (p.Gly3254Ala)
c.9740G>C (p.Gly3247Ala)
c.9395G>C (p.Gly3132Ala)
c.5741G>C (p.Gly1914Ala)
c.9635G>C (p.Gly3212Ala)
c.9626G>C (p.Gly3209Ala)
c.9641G>C (p.Gly3214Ala)
c.3938G>C (p.Gly1313Ala)
Xg.31204004C>TCA412648449DMDc.4610G>A (p.Gly1537Glu)
c.560G>A (p.Gly187Glu)
n.562G>A
c.2384G>A (p.Gly795Glu)
n.1281G>A
n.863G>A
n.1282G>A
n.3256G>A
c.1619G>A (p.Gly540Glu)
c.9764G>A (p.Gly3255Glu)
c.5732G>A (p.Gly1911Glu)
c.437G>A (p.Gly146Glu)
c.503G>A (p.Gly168Glu)
n.694G>A
c.1577G>A (p.Gly526Glu)
c.2852G>A (p.Gly951Glu)
c.9752G>A (p.Gly3251Glu)
c.134G>A (p.Gly45Glu)
c.9749G>A (p.Gly3250Glu)
c.9761G>A (p.Gly3254Glu)
c.9740G>A (p.Gly3247Glu)
c.9395G>A (p.Gly3132Glu)
c.5741G>A (p.Gly1914Glu)
c.9635G>A (p.Gly3212Glu)
c.9626G>A (p.Gly3209Glu)
c.9641G>A (p.Gly3214Glu)
c.3938G>A (p.Gly1313Glu)
Xg.31204005C>ACA412648454DMDc.4609G>T (p.Gly1537Trp)
c.559G>T (p.Gly187Trp)
n.561G>T
c.2383G>T (p.Gly795Trp)
n.1280G>T
n.862G>T
n.1281G>T
n.3255G>T
c.1618G>T (p.Gly540Trp)
c.9763G>T (p.Gly3255Trp)
c.5731G>T (p.Gly1911Trp)
c.436G>T (p.Gly146Trp)
c.502G>T (p.Gly168Trp)
n.693G>T
c.1576G>T (p.Gly526Trp)
c.2851G>T (p.Gly951Trp)
c.9751G>T (p.Gly3251Trp)
c.133G>T (p.Gly45Trp)
c.9748G>T (p.Gly3250Trp)
c.9760G>T (p.Gly3254Trp)
c.9739G>T (p.Gly3247Trp)
c.9394G>T (p.Gly3132Trp)
c.5740G>T (p.Gly1914Trp)
c.9634G>T (p.Gly3212Trp)
c.9625G>T (p.Gly3209Trp)
c.9640G>T (p.Gly3214Trp)
c.3937G>T (p.Gly1313Trp)
Xg.31204005C>GCA412648453DMDc.4609G>C (p.Gly1537Arg)
c.559G>C (p.Gly187Arg)
n.561G>C
c.2383G>C (p.Gly795Arg)
n.1280G>C
n.862G>C
n.1281G>C
n.3255G>C
c.1618G>C (p.Gly540Arg)
c.9763G>C (p.Gly3255Arg)
c.5731G>C (p.Gly1911Arg)
c.436G>C (p.Gly146Arg)
c.502G>C (p.Gly168Arg)
n.693G>C
c.1576G>C (p.Gly526Arg)
c.2851G>C (p.Gly951Arg)
c.9751G>C (p.Gly3251Arg)
c.133G>C (p.Gly45Arg)
c.9748G>C (p.Gly3250Arg)
c.9760G>C (p.Gly3254Arg)
c.9739G>C (p.Gly3247Arg)
c.9394G>C (p.Gly3132Arg)
c.5740G>C (p.Gly1914Arg)
c.9634G>C (p.Gly3212Arg)
c.9625G>C (p.Gly3209Arg)
c.9640G>C (p.Gly3214Arg)
c.3937G>C (p.Gly1313Arg)
Xg.31204005C>TCA412648451DMDc.4609G>A (p.Gly1537Arg)
c.559G>A (p.Gly187Arg)
n.561G>A
c.2383G>A (p.Gly795Arg)
n.1280G>A
n.862G>A
n.1281G>A
n.3255G>A
c.1618G>A (p.Gly540Arg)
c.9763G>A (p.Gly3255Arg)
c.5731G>A (p.Gly1911Arg)
c.436G>A (p.Gly146Arg)
c.502G>A (p.Gly168Arg)
n.693G>A
c.1576G>A (p.Gly526Arg)
c.2851G>A (p.Gly951Arg)
c.9751G>A (p.Gly3251Arg)
c.133G>A (p.Gly45Arg)
c.9748G>A (p.Gly3250Arg)
c.9760G>A (p.Gly3254Arg)
c.9739G>A (p.Gly3247Arg)
c.9394G>A (p.Gly3132Arg)
c.5740G>A (p.Gly1914Arg)
c.9634G>A (p.Gly3212Arg)
c.9625G>A (p.Gly3209Arg)
c.9640G>A (p.Gly3214Arg)
c.3937G>A (p.Gly1313Arg)
Xg.31204006A>CCA412648456DMDc.4608T>G (p.Phe1536Leu)
c.558T>G (p.Phe186Leu)
n.560T>G
c.2382T>G (p.Phe794Leu)
n.1279T>G
n.861T>G
n.1280T>G
n.3254T>G
c.1617T>G (p.Phe539Leu)
c.9762T>G (p.Phe3254Leu)
c.5730T>G (p.Phe1910Leu)
c.435T>G (p.Phe145Leu)
c.501T>G (p.Phe167Leu)
n.692T>G
c.1575T>G (p.Phe525Leu)
c.2850T>G (p.Phe950Leu)
c.9750T>G (p.Phe3250Leu)
c.132T>G (p.Phe44Leu)
c.9747T>G (p.Phe3249Leu)
c.9759T>G (p.Phe3253Leu)
c.9738T>G (p.Phe3246Leu)
c.9393T>G (p.Phe3131Leu)
c.5739T>G (p.Phe1913Leu)
c.9633T>G (p.Phe3211Leu)
c.9624T>G (p.Phe3208Leu)
c.9639T>G (p.Phe3213Leu)
c.3936T>G (p.Phe1312Leu)
Xg.31204006A>GCA515856881DMDc.4608T>C (p.Phe1536=)
c.558T>C (p.Phe186=)
n.560T>C
c.2382T>C (p.Phe794=)
n.1279T>C
n.861T>C
n.1280T>C
n.3254T>C
c.1617T>C (p.Phe539=)
c.9762T>C (p.Phe3254=)
c.5730T>C (p.Phe1910=)
c.435T>C (p.Phe145=)
c.501T>C (p.Phe167=)
n.692T>C
c.1575T>C (p.Phe525=)
c.2850T>C (p.Phe950=)
c.9750T>C (p.Phe3250=)
c.132T>C (p.Phe44=)
c.9747T>C (p.Phe3249=)
c.9759T>C (p.Phe3253=)
c.9738T>C (p.Phe3246=)
c.9393T>C (p.Phe3131=)
c.5739T>C (p.Phe1913=)
c.9633T>C (p.Phe3211=)
c.9624T>C (p.Phe3208=)
c.9639T>C (p.Phe3213=)
c.3936T>C (p.Phe1312=)
Xg.31204006A>TCA412648457DMDc.4608T>A (p.Phe1536Leu)
c.558T>A (p.Phe186Leu)
n.560T>A
c.2382T>A (p.Phe794Leu)
n.1279T>A
n.861T>A
n.1280T>A
n.3254T>A
c.1617T>A (p.Phe539Leu)
c.9762T>A (p.Phe3254Leu)
c.5730T>A (p.Phe1910Leu)
c.435T>A (p.Phe145Leu)
c.501T>A (p.Phe167Leu)
n.692T>A
c.1575T>A (p.Phe525Leu)
c.2850T>A (p.Phe950Leu)
c.9750T>A (p.Phe3250Leu)
c.132T>A (p.Phe44Leu)
c.9747T>A (p.Phe3249Leu)
c.9759T>A (p.Phe3253Leu)
c.9738T>A (p.Phe3246Leu)
c.9393T>A (p.Phe3131Leu)
c.5739T>A (p.Phe1913Leu)
c.9633T>A (p.Phe3211Leu)
c.9624T>A (p.Phe3208Leu)
c.9639T>A (p.Phe3213Leu)
c.3936T>A (p.Phe1312Leu)
Xg.31204007A>CCA412648459DMDc.4607T>G (p.Phe1536Cys)
c.557T>G (p.Phe186Cys)
n.559T>G
c.2381T>G (p.Phe794Cys)
n.1278T>G
n.860T>G
n.1279T>G
n.3253T>G
c.1616T>G (p.Phe539Cys)
c.9761T>G (p.Phe3254Cys)
c.5729T>G (p.Phe1910Cys)
c.434T>G (p.Phe145Cys)
c.500T>G (p.Phe167Cys)
n.691T>G
c.1574T>G (p.Phe525Cys)
c.2849T>G (p.Phe950Cys)
c.9749T>G (p.Phe3250Cys)
c.131T>G (p.Phe44Cys)
c.9746T>G (p.Phe3249Cys)
c.9758T>G (p.Phe3253Cys)
c.9737T>G (p.Phe3246Cys)
c.9392T>G (p.Phe3131Cys)
c.5738T>G (p.Phe1913Cys)
c.9632T>G (p.Phe3211Cys)
c.9623T>G (p.Phe3208Cys)
c.9638T>G (p.Phe3213Cys)
c.3935T>G (p.Phe1312Cys)
Xg.31204007A>GCA412648461DMDc.4607T>C (p.Phe1536Ser)
c.557T>C (p.Phe186Ser)
n.559T>C
c.2381T>C (p.Phe794Ser)
n.1278T>C
n.860T>C
n.1279T>C
n.3253T>C
c.1616T>C (p.Phe539Ser)
c.9761T>C (p.Phe3254Ser)
c.5729T>C (p.Phe1910Ser)
c.434T>C (p.Phe145Ser)
c.500T>C (p.Phe167Ser)
n.691T>C
c.1574T>C (p.Phe525Ser)
c.2849T>C (p.Phe950Ser)
c.9749T>C (p.Phe3250Ser)
c.131T>C (p.Phe44Ser)
c.9746T>C (p.Phe3249Ser)
c.9758T>C (p.Phe3253Ser)
c.9737T>C (p.Phe3246Ser)
c.9392T>C (p.Phe3131Ser)
c.5738T>C (p.Phe1913Ser)
c.9632T>C (p.Phe3211Ser)
c.9623T>C (p.Phe3208Ser)
c.9638T>C (p.Phe3213Ser)
c.3935T>C (p.Phe1312Ser)
Xg.31204007A>TCA412648462DMDc.4607T>A (p.Phe1536Tyr)
c.557T>A (p.Phe186Tyr)
n.559T>A
c.2381T>A (p.Phe794Tyr)
n.1278T>A
n.860T>A
n.1279T>A
n.3253T>A
c.1616T>A (p.Phe539Tyr)
c.9761T>A (p.Phe3254Tyr)
c.5729T>A (p.Phe1910Tyr)
c.434T>A (p.Phe145Tyr)
c.500T>A (p.Phe167Tyr)
n.691T>A
c.1574T>A (p.Phe525Tyr)
c.2849T>A (p.Phe950Tyr)
c.9749T>A (p.Phe3250Tyr)
c.131T>A (p.Phe44Tyr)
c.9746T>A (p.Phe3249Tyr)
c.9758T>A (p.Phe3253Tyr)
c.9737T>A (p.Phe3246Tyr)
c.9392T>A (p.Phe3131Tyr)
c.5738T>A (p.Phe1913Tyr)
c.9632T>A (p.Phe3211Tyr)
c.9623T>A (p.Phe3208Tyr)
c.9638T>A (p.Phe3213Tyr)
c.3935T>A (p.Phe1312Tyr)
Xg.31204008A>CCA412648465DMDc.4606T>G (p.Phe1536Val)
c.556T>G (p.Phe186Val)
n.558T>G
c.2380T>G (p.Phe794Val)
n.1277T>G
n.859T>G
n.1278T>G
n.3252T>G
c.1615T>G (p.Phe539Val)
c.9760T>G (p.Phe3254Val)
c.5728T>G (p.Phe1910Val)
c.433T>G (p.Phe145Val)
c.499T>G (p.Phe167Val)
n.690T>G
c.1573T>G (p.Phe525Val)
c.2848T>G (p.Phe950Val)
c.9748T>G (p.Phe3250Val)
c.130T>G (p.Phe44Val)
c.9745T>G (p.Phe3249Val)
c.9757T>G (p.Phe3253Val)
c.9736T>G (p.Phe3246Val)
c.9391T>G (p.Phe3131Val)
c.5737T>G (p.Phe1913Val)
c.9631T>G (p.Phe3211Val)
c.9622T>G (p.Phe3208Val)
c.9637T>G (p.Phe3213Val)
c.3934T>G (p.Phe1312Val)
Xg.31204008A>GCA412648466DMDc.4606T>C (p.Phe1536Leu)
c.556T>C (p.Phe186Leu)
n.558T>C
c.2380T>C (p.Phe794Leu)
n.1277T>C
n.859T>C
n.1278T>C
n.3252T>C
c.1615T>C (p.Phe539Leu)
c.9760T>C (p.Phe3254Leu)
c.5728T>C (p.Phe1910Leu)
c.433T>C (p.Phe145Leu)
c.499T>C (p.Phe167Leu)
n.690T>C
c.1573T>C (p.Phe525Leu)
c.2848T>C (p.Phe950Leu)
c.9748T>C (p.Phe3250Leu)
c.130T>C (p.Phe44Leu)
c.9745T>C (p.Phe3249Leu)
c.9757T>C (p.Phe3253Leu)
c.9736T>C (p.Phe3246Leu)
c.9391T>C (p.Phe3131Leu)
c.5737T>C (p.Phe1913Leu)
c.9631T>C (p.Phe3211Leu)
c.9622T>C (p.Phe3208Leu)
c.9637T>C (p.Phe3213Leu)
c.3934T>C (p.Phe1312Leu)
Xg.31204008A>TCA412648468DMDc.4606T>A (p.Phe1536Ile)
c.556T>A (p.Phe186Ile)
n.558T>A
c.2380T>A (p.Phe794Ile)
n.1277T>A
n.859T>A
n.1278T>A
n.3252T>A
c.1615T>A (p.Phe539Ile)
c.9760T>A (p.Phe3254Ile)
c.5728T>A (p.Phe1910Ile)
c.433T>A (p.Phe145Ile)
c.499T>A (p.Phe167Ile)
n.690T>A
c.1573T>A (p.Phe525Ile)
c.2848T>A (p.Phe950Ile)
c.9748T>A (p.Phe3250Ile)
c.130T>A (p.Phe44Ile)
c.9745T>A (p.Phe3249Ile)
c.9757T>A (p.Phe3253Ile)
c.9736T>A (p.Phe3246Ile)
c.9391T>A (p.Phe3131Ile)
c.5737T>A (p.Phe1913Ile)
c.9631T>A (p.Phe3211Ile)
c.9622T>A (p.Phe3208Ile)
c.9637T>A (p.Phe3213Ile)
c.3934T>A (p.Phe1312Ile)
Xg.31204009G>ACA515856882DMDc.4605C>T (p.Ser1535=)
c.555C>T (p.Ser185=)
n.557C>T
c.2379C>T (p.Ser793=)
n.1276C>T
n.858C>T
n.1277C>T
n.3251C>T
c.1614C>T (p.Ser538=)
c.9759C>T (p.Ser3253=)
c.5727C>T (p.Ser1909=)
c.432C>T (p.Ser144=)
c.498C>T (p.Ser166=)
n.689C>T
c.1572C>T (p.Ser524=)
c.2847C>T (p.Ser949=)
c.9747C>T (p.Ser3249=)
c.129C>T (p.Ser43=)
c.9744C>T (p.Ser3248=)
c.9756C>T (p.Ser3252=)
c.9735C>T (p.Ser3245=)
c.9390C>T (p.Ser3130=)
c.5736C>T (p.Ser1912=)
c.9630C>T (p.Ser3210=)
c.9621C>T (p.Ser3207=)
c.9636C>T (p.Ser3212=)
c.3933C>T (p.Ser1311=)
 ClinVar dbSNP
Xg.31204009G>CCA515856883DMDc.4605C>G (p.Ser1535=)
c.555C>G (p.Ser185=)
n.557C>G
c.2379C>G (p.Ser793=)
n.1276C>G
n.858C>G
n.1277C>G
n.3251C>G
c.1614C>G (p.Ser538=)
c.9759C>G (p.Ser3253=)
c.5727C>G (p.Ser1909=)
c.432C>G (p.Ser144=)
c.498C>G (p.Ser166=)
n.689C>G
c.1572C>G (p.Ser524=)
c.2847C>G (p.Ser949=)
c.9747C>G (p.Ser3249=)
c.129C>G (p.Ser43=)
c.9744C>G (p.Ser3248=)
c.9756C>G (p.Ser3252=)
c.9735C>G (p.Ser3245=)
c.9390C>G (p.Ser3130=)
c.5736C>G (p.Ser1912=)
c.9630C>G (p.Ser3210=)
c.9621C>G (p.Ser3207=)
c.9636C>G (p.Ser3212=)
c.3933C>G (p.Ser1311=)
Xg.31204009G>TCA515856884DMDc.4605C>A (p.Ser1535=)
c.555C>A (p.Ser185=)
n.557C>A
c.2379C>A (p.Ser793=)
n.1276C>A
n.858C>A
n.1277C>A
n.3251C>A
c.1614C>A (p.Ser538=)
c.9759C>A (p.Ser3253=)
c.5727C>A (p.Ser1909=)
c.432C>A (p.Ser144=)
c.498C>A (p.Ser166=)
n.689C>A
c.1572C>A (p.Ser524=)
c.2847C>A (p.Ser949=)
c.9747C>A (p.Ser3249=)
c.129C>A (p.Ser43=)
c.9744C>A (p.Ser3248=)
c.9756C>A (p.Ser3252=)
c.9735C>A (p.Ser3245=)
c.9390C>A (p.Ser3130=)
c.5736C>A (p.Ser1912=)
c.9630C>A (p.Ser3210=)
c.9621C>A (p.Ser3207=)
c.9636C>A (p.Ser3212=)
c.3933C>A (p.Ser1311=)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31204010G>ACA412648469DMDc.4604C>T (p.Ser1535Phe)
c.554C>T (p.Ser185Phe)
n.556C>T
c.2378C>T (p.Ser793Phe)
n.1275C>T
n.857C>T
n.1276C>T
n.3250C>T
c.1613C>T (p.Ser538Phe)
c.9758C>T (p.Ser3253Phe)
c.5726C>T (p.Ser1909Phe)
c.431C>T (p.Ser144Phe)
c.497C>T (p.Ser166Phe)
n.688C>T
c.1571C>T (p.Ser524Phe)
c.2846C>T (p.Ser949Phe)
c.9746C>T (p.Ser3249Phe)
c.128C>T (p.Ser43Phe)
c.9743C>T (p.Ser3248Phe)
c.9755C>T (p.Ser3252Phe)
c.9734C>T (p.Ser3245Phe)
c.9389C>T (p.Ser3130Phe)
c.5735C>T (p.Ser1912Phe)
c.9629C>T (p.Ser3210Phe)
c.9620C>T (p.Ser3207Phe)
c.9635C>T (p.Ser3212Phe)
c.3932C>T (p.Ser1311Phe)
Xg.31204010G>CCA412648471DMDc.4604C>G (p.Ser1535Cys)
c.554C>G (p.Ser185Cys)
n.556C>G
c.2378C>G (p.Ser793Cys)
n.1275C>G
n.857C>G
n.1276C>G
n.3250C>G
c.1613C>G (p.Ser538Cys)
c.9758C>G (p.Ser3253Cys)
c.5726C>G (p.Ser1909Cys)
c.431C>G (p.Ser144Cys)
c.497C>G (p.Ser166Cys)
n.688C>G
c.1571C>G (p.Ser524Cys)
c.2846C>G (p.Ser949Cys)
c.9746C>G (p.Ser3249Cys)
c.128C>G (p.Ser43Cys)
c.9743C>G (p.Ser3248Cys)
c.9755C>G (p.Ser3252Cys)
c.9734C>G (p.Ser3245Cys)
c.9389C>G (p.Ser3130Cys)
c.5735C>G (p.Ser1912Cys)
c.9629C>G (p.Ser3210Cys)
c.9620C>G (p.Ser3207Cys)
c.9635C>G (p.Ser3212Cys)
c.3932C>G (p.Ser1311Cys)
Xg.31204010G>TCA412648473DMDc.4604C>A (p.Ser1535Tyr)
c.554C>A (p.Ser185Tyr)
n.556C>A
c.2378C>A (p.Ser793Tyr)
n.1275C>A
n.857C>A
n.1276C>A
n.3250C>A
c.1613C>A (p.Ser538Tyr)
c.9758C>A (p.Ser3253Tyr)
c.5726C>A (p.Ser1909Tyr)
c.431C>A (p.Ser144Tyr)
c.497C>A (p.Ser166Tyr)
n.688C>A
c.1571C>A (p.Ser524Tyr)
c.2846C>A (p.Ser949Tyr)
c.9746C>A (p.Ser3249Tyr)
c.128C>A (p.Ser43Tyr)
c.9743C>A (p.Ser3248Tyr)
c.9755C>A (p.Ser3252Tyr)
c.9734C>A (p.Ser3245Tyr)
c.9389C>A (p.Ser3130Tyr)
c.5735C>A (p.Ser1912Tyr)
c.9629C>A (p.Ser3210Tyr)
c.9620C>A (p.Ser3207Tyr)
c.9635C>A (p.Ser3212Tyr)
c.3932C>A (p.Ser1311Tyr)
Xg.31204011A>CCA412648475DMDc.4603T>G (p.Ser1535Ala)
c.553T>G (p.Ser185Ala)
n.555T>G
c.2377T>G (p.Ser793Ala)
n.1274T>G
n.856T>G
n.1275T>G
n.3249T>G
c.1612T>G (p.Ser538Ala)
c.9757T>G (p.Ser3253Ala)
c.5725T>G (p.Ser1909Ala)
c.430T>G (p.Ser144Ala)
c.496T>G (p.Ser166Ala)
n.687T>G
c.1570T>G (p.Ser524Ala)
c.2845T>G (p.Ser949Ala)
c.9745T>G (p.Ser3249Ala)
c.127T>G (p.Ser43Ala)
c.9742T>G (p.Ser3248Ala)
c.9754T>G (p.Ser3252Ala)
c.9733T>G (p.Ser3245Ala)
c.9388T>G (p.Ser3130Ala)
c.5734T>G (p.Ser1912Ala)
c.9628T>G (p.Ser3210Ala)
c.9619T>G (p.Ser3207Ala)
c.9634T>G (p.Ser3212Ala)
c.3931T>G (p.Ser1311Ala)
Xg.31204011A>GCA412648476DMDc.4603T>C (p.Ser1535Pro)
c.553T>C (p.Ser185Pro)
n.555T>C
c.2377T>C (p.Ser793Pro)
n.1274T>C
n.856T>C
n.1275T>C
n.3249T>C
c.1612T>C (p.Ser538Pro)
c.9757T>C (p.Ser3253Pro)
c.5725T>C (p.Ser1909Pro)
c.430T>C (p.Ser144Pro)
c.496T>C (p.Ser166Pro)
n.687T>C
c.1570T>C (p.Ser524Pro)
c.2845T>C (p.Ser949Pro)
c.9745T>C (p.Ser3249Pro)
c.127T>C (p.Ser43Pro)
c.9742T>C (p.Ser3248Pro)
c.9754T>C (p.Ser3252Pro)
c.9733T>C (p.Ser3245Pro)
c.9388T>C (p.Ser3130Pro)
c.5734T>C (p.Ser1912Pro)
c.9628T>C (p.Ser3210Pro)
c.9619T>C (p.Ser3207Pro)
c.9634T>C (p.Ser3212Pro)
c.3931T>C (p.Ser1311Pro)
Xg.31204011A>TCA412648478DMDc.4603T>A (p.Ser1535Thr)
c.553T>A (p.Ser185Thr)
n.555T>A
c.2377T>A (p.Ser793Thr)
n.1274T>A
n.856T>A
n.1275T>A
n.3249T>A
c.1612T>A (p.Ser538Thr)
c.9757T>A (p.Ser3253Thr)
c.5725T>A (p.Ser1909Thr)
c.430T>A (p.Ser144Thr)
c.496T>A (p.Ser166Thr)
n.687T>A
c.1570T>A (p.Ser524Thr)
c.2845T>A (p.Ser949Thr)
c.9745T>A (p.Ser3249Thr)
c.127T>A (p.Ser43Thr)
c.9742T>A (p.Ser3248Thr)
c.9754T>A (p.Ser3252Thr)
c.9733T>A (p.Ser3245Thr)
c.9388T>A (p.Ser3130Thr)
c.5734T>A (p.Ser1912Thr)
c.9628T>A (p.Ser3210Thr)
c.9619T>A (p.Ser3207Thr)
c.9634T>A (p.Ser3212Thr)
c.3931T>A (p.Ser1311Thr)
Xg.31204012T>ACA515856888DMDc.4602A>T (p.Ala1534=)
c.552A>T (p.Ala184=)
n.554A>T
c.2376A>T (p.Ala792=)
n.1273A>T
n.855A>T
n.1274A>T
n.3248A>T
c.1611A>T (p.Ala537=)
c.9756A>T (p.Ala3252=)
c.5724A>T (p.Ala1908=)
c.429A>T (p.Ala143=)
c.495A>T (p.Ala165=)
n.686A>T
c.1569A>T (p.Ala523=)
c.2844A>T (p.Ala948=)
c.9744A>T (p.Ala3248=)
c.126A>T (p.Ala42=)
c.9741A>T (p.Ala3247=)
c.9753A>T (p.Ala3251=)
c.9732A>T (p.Ala3244=)
c.9387A>T (p.Ala3129=)
c.5733A>T (p.Ala1911=)
c.9627A>T (p.Ala3209=)
c.9618A>T (p.Ala3206=)
c.9633A>T (p.Ala3211=)
c.3930A>T (p.Ala1310=)
Xg.31204012T>CCA515856890DMDc.4602A>G (p.Ala1534=)
c.552A>G (p.Ala184=)
n.554A>G
c.2376A>G (p.Ala792=)
n.1273A>G
n.855A>G
n.1274A>G
n.3248A>G
c.1611A>G (p.Ala537=)
c.9756A>G (p.Ala3252=)
c.5724A>G (p.Ala1908=)
c.429A>G (p.Ala143=)
c.495A>G (p.Ala165=)
n.686A>G
c.1569A>G (p.Ala523=)
c.2844A>G (p.Ala948=)
c.9744A>G (p.Ala3248=)
c.126A>G (p.Ala42=)
c.9741A>G (p.Ala3247=)
c.9753A>G (p.Ala3251=)
c.9732A>G (p.Ala3244=)
c.9387A>G (p.Ala3129=)
c.5733A>G (p.Ala1911=)
c.9627A>G (p.Ala3209=)
c.9618A>G (p.Ala3206=)
c.9633A>G (p.Ala3211=)
c.3930A>G (p.Ala1310=)
 ClinVar dbSNP gnomAD v4
Xg.31204012T>GCA515856891DMDc.4602A>C (p.Ala1534=)
c.552A>C (p.Ala184=)
n.554A>C
c.2376A>C (p.Ala792=)
n.1273A>C
n.855A>C
n.1274A>C
n.3248A>C
c.1611A>C (p.Ala537=)
c.9756A>C (p.Ala3252=)
c.5724A>C (p.Ala1908=)
c.429A>C (p.Ala143=)
c.495A>C (p.Ala165=)
n.686A>C
c.1569A>C (p.Ala523=)
c.2844A>C (p.Ala948=)
c.9744A>C (p.Ala3248=)
c.126A>C (p.Ala42=)
c.9741A>C (p.Ala3247=)
c.9753A>C (p.Ala3251=)
c.9732A>C (p.Ala3244=)
c.9387A>C (p.Ala3129=)
c.5733A>C (p.Ala1911=)
c.9627A>C (p.Ala3209=)
c.9618A>C (p.Ala3206=)
c.9633A>C (p.Ala3211=)
c.3930A>C (p.Ala1310=)
Xg.31204013G>ACA412648480DMDc.4601C>T (p.Ala1534Val)
c.551C>T (p.Ala184Val)
n.553C>T
c.2375C>T (p.Ala792Val)
n.1272C>T
n.854C>T
n.1273C>T
n.3247C>T
c.1610C>T (p.Ala537Val)
c.9755C>T (p.Ala3252Val)
c.5723C>T (p.Ala1908Val)
c.428C>T (p.Ala143Val)
c.494C>T (p.Ala165Val)
n.685C>T
c.1568C>T (p.Ala523Val)
c.2843C>T (p.Ala948Val)
c.9743C>T (p.Ala3248Val)
c.125C>T (p.Ala42Val)
c.9740C>T (p.Ala3247Val)
c.9752C>T (p.Ala3251Val)
c.9731C>T (p.Ala3244Val)
c.9386C>T (p.Ala3129Val)
c.5732C>T (p.Ala1911Val)
c.9626C>T (p.Ala3209Val)
c.9617C>T (p.Ala3206Val)
c.9632C>T (p.Ala3211Val)
c.3929C>T (p.Ala1310Val)
 dbSNP
Xg.31204013G>CCA412648482DMDc.4601C>G (p.Ala1534Gly)
c.551C>G (p.Ala184Gly)
n.553C>G
c.2375C>G (p.Ala792Gly)
n.1272C>G
n.854C>G
n.1273C>G
n.3247C>G
c.1610C>G (p.Ala537Gly)
c.9755C>G (p.Ala3252Gly)
c.5723C>G (p.Ala1908Gly)
c.428C>G (p.Ala143Gly)
c.494C>G (p.Ala165Gly)
n.685C>G
c.1568C>G (p.Ala523Gly)
c.2843C>G (p.Ala948Gly)
c.9743C>G (p.Ala3248Gly)
c.125C>G (p.Ala42Gly)
c.9740C>G (p.Ala3247Gly)
c.9752C>G (p.Ala3251Gly)
c.9731C>G (p.Ala3244Gly)
c.9386C>G (p.Ala3129Gly)
c.5732C>G (p.Ala1911Gly)
c.9626C>G (p.Ala3209Gly)
c.9617C>G (p.Ala3206Gly)
c.9632C>G (p.Ala3211Gly)
c.3929C>G (p.Ala1310Gly)
Xg.31204013G=CA2422347565DMDc.4601C= (p.Ala1534=)
c.551C= (p.Ala184=)
n.553C=
c.2375C= (p.Ala792=)
n.1272C=
n.854C=
n.1273C=
n.3247C=
c.1610C= (p.Ala537=)
c.9755C= (p.Ala3252=)
c.5723C= (p.Ala1908=)
c.428C= (p.Ala143=)
c.494C= (p.Ala165=)
n.685C=
c.1568C= (p.Ala523=)
c.2843C= (p.Ala948=)
c.9743C= (p.Ala3248=)
c.125C= (p.Ala42=)
c.9740C= (p.Ala3247=)
c.9752C= (p.Ala3251=)
c.9731C= (p.Ala3244=)
c.9386C= (p.Ala3129=)
c.5732C= (p.Ala1911=)
c.9626C= (p.Ala3209=)
c.9617C= (p.Ala3206=)
c.9632C= (p.Ala3211=)
c.3929C= (p.Ala1310=)
Xg.31204013G>TCA412648479DMDc.4601C>A (p.Ala1534Glu)
c.551C>A (p.Ala184Glu)
n.553C>A
c.2375C>A (p.Ala792Glu)
n.1272C>A
n.854C>A
n.1273C>A
n.3247C>A
c.1610C>A (p.Ala537Glu)
c.9755C>A (p.Ala3252Glu)
c.5723C>A (p.Ala1908Glu)
c.428C>A (p.Ala143Glu)
c.494C>A (p.Ala165Glu)
n.685C>A
c.1568C>A (p.Ala523Glu)
c.2843C>A (p.Ala948Glu)
c.9743C>A (p.Ala3248Glu)
c.125C>A (p.Ala42Glu)
c.9740C>A (p.Ala3247Glu)
c.9752C>A (p.Ala3251Glu)
c.9731C>A (p.Ala3244Glu)
c.9386C>A (p.Ala3129Glu)
c.5732C>A (p.Ala1911Glu)
c.9626C>A (p.Ala3209Glu)
c.9617C>A (p.Ala3206Glu)
c.9632C>A (p.Ala3211Glu)
c.3929C>A (p.Ala1310Glu)
Xg.31204014C>ACA412648484DMDc.4600G>T (p.Ala1534Ser)
c.550G>T (p.Ala184Ser)
n.552G>T
c.2374G>T (p.Ala792Ser)
n.1271G>T
n.853G>T
n.1272G>T
n.3246G>T
c.1609G>T (p.Ala537Ser)
c.9754G>T (p.Ala3252Ser)
c.5722G>T (p.Ala1908Ser)
c.427G>T (p.Ala143Ser)
c.493G>T (p.Ala165Ser)
n.684G>T
c.1567G>T (p.Ala523Ser)
c.2842G>T (p.Ala948Ser)
c.9742G>T (p.Ala3248Ser)
c.124G>T (p.Ala42Ser)
c.9739G>T (p.Ala3247Ser)
c.9751G>T (p.Ala3251Ser)
c.9730G>T (p.Ala3244Ser)
c.9385G>T (p.Ala3129Ser)
c.5731G>T (p.Ala1911Ser)
c.9625G>T (p.Ala3209Ser)
c.9616G>T (p.Ala3206Ser)
c.9631G>T (p.Ala3211Ser)
c.3928G>T (p.Ala1310Ser)
Xg.31204014C>GCA412648485DMDc.4600G>C (p.Ala1534Pro)
c.550G>C (p.Ala184Pro)
n.552G>C
c.2374G>C (p.Ala792Pro)
n.1271G>C
n.853G>C
n.1272G>C
n.3246G>C
c.1609G>C (p.Ala537Pro)
c.9754G>C (p.Ala3252Pro)
c.5722G>C (p.Ala1908Pro)
c.427G>C (p.Ala143Pro)
c.493G>C (p.Ala165Pro)
n.684G>C
c.1567G>C (p.Ala523Pro)
c.2842G>C (p.Ala948Pro)
c.9742G>C (p.Ala3248Pro)
c.124G>C (p.Ala42Pro)
c.9739G>C (p.Ala3247Pro)
c.9751G>C (p.Ala3251Pro)
c.9730G>C (p.Ala3244Pro)
c.9385G>C (p.Ala3129Pro)
c.5731G>C (p.Ala1911Pro)
c.9625G>C (p.Ala3209Pro)
c.9616G>C (p.Ala3206Pro)
c.9631G>C (p.Ala3211Pro)
c.3928G>C (p.Ala1310Pro)
Xg.31204014C>TCA412648487DMDc.4600G>A (p.Ala1534Thr)
c.550G>A (p.Ala184Thr)
n.552G>A
c.2374G>A (p.Ala792Thr)
n.1271G>A
n.853G>A
n.1272G>A
n.3246G>A
c.1609G>A (p.Ala537Thr)
c.9754G>A (p.Ala3252Thr)
c.5722G>A (p.Ala1908Thr)
c.427G>A (p.Ala143Thr)
c.493G>A (p.Ala165Thr)
n.684G>A
c.1567G>A (p.Ala523Thr)
c.2842G>A (p.Ala948Thr)
c.9742G>A (p.Ala3248Thr)
c.124G>A (p.Ala42Thr)
c.9739G>A (p.Ala3247Thr)
c.9751G>A (p.Ala3251Thr)
c.9730G>A (p.Ala3244Thr)
c.9385G>A (p.Ala3129Thr)
c.5731G>A (p.Ala1911Thr)
c.9625G>A (p.Ala3209Thr)
c.9616G>A (p.Ala3206Thr)
c.9631G>A (p.Ala3211Thr)
c.3928G>A (p.Ala1310Thr)
Xg.31204015A>CCA515856894DMDc.4599T>G (p.Val1533=)
c.549T>G (p.Val183=)
n.551T>G
c.2373T>G (p.Val791=)
n.1270T>G
n.852T>G
n.1271T>G
n.3245T>G
c.1608T>G (p.Val536=)
c.9753T>G (p.Val3251=)
c.5721T>G (p.Val1907=)
c.426T>G (p.Val142=)
c.492T>G (p.Val164=)
n.683T>G
c.1566T>G (p.Val522=)
c.2841T>G (p.Val947=)
c.9741T>G (p.Val3247=)
c.123T>G (p.Val41=)
c.9738T>G (p.Val3246=)
c.9750T>G (p.Val3250=)
c.9729T>G (p.Val3243=)
c.9384T>G (p.Val3128=)
c.5730T>G (p.Val1910=)
c.9624T>G (p.Val3208=)
c.9615T>G (p.Val3205=)
c.9630T>G (p.Val3210=)
c.3927T>G (p.Val1309=)
Xg.31204015A>GCA515856893DMDc.4599T>C (p.Val1533=)
c.549T>C (p.Val183=)
n.551T>C
c.2373T>C (p.Val791=)
n.1270T>C
n.852T>C
n.1271T>C
n.3245T>C
c.1608T>C (p.Val536=)
c.9753T>C (p.Val3251=)
c.5721T>C (p.Val1907=)
c.426T>C (p.Val142=)
c.492T>C (p.Val164=)
n.683T>C
c.1566T>C (p.Val522=)
c.2841T>C (p.Val947=)
c.9741T>C (p.Val3247=)
c.123T>C (p.Val41=)
c.9738T>C (p.Val3246=)
c.9750T>C (p.Val3250=)
c.9729T>C (p.Val3243=)
c.9384T>C (p.Val3128=)
c.5730T>C (p.Val1910=)
c.9624T>C (p.Val3208=)
c.9615T>C (p.Val3205=)
c.9630T>C (p.Val3210=)
c.3927T>C (p.Val1309=)
 ClinVar
Xg.31204015A>TCA515856892DMDc.4599T>A (p.Val1533=)
c.549T>A (p.Val183=)
n.551T>A
c.2373T>A (p.Val791=)
n.1270T>A
n.852T>A
n.1271T>A
n.3245T>A
c.1608T>A (p.Val536=)
c.9753T>A (p.Val3251=)
c.5721T>A (p.Val1907=)
c.426T>A (p.Val142=)
c.492T>A (p.Val164=)
n.683T>A
c.1566T>A (p.Val522=)
c.2841T>A (p.Val947=)
c.9741T>A (p.Val3247=)
c.123T>A (p.Val41=)
c.9738T>A (p.Val3246=)
c.9750T>A (p.Val3250=)
c.9729T>A (p.Val3243=)
c.9384T>A (p.Val3128=)
c.5730T>A (p.Val1910=)
c.9624T>A (p.Val3208=)
c.9615T>A (p.Val3205=)
c.9630T>A (p.Val3210=)
c.3927T>A (p.Val1309=)
Xg.31204016A>CCA412648489DMDc.4598T>G (p.Val1533Gly)
c.548T>G (p.Val183Gly)
n.550T>G
c.2372T>G (p.Val791Gly)
n.1269T>G
n.851T>G
n.1270T>G
n.3244T>G
c.1607T>G (p.Val536Gly)
c.9752T>G (p.Val3251Gly)
c.5720T>G (p.Val1907Gly)
c.425T>G (p.Val142Gly)
c.491T>G (p.Val164Gly)
n.682T>G
c.1565T>G (p.Val522Gly)
c.2840T>G (p.Val947Gly)
c.9740T>G (p.Val3247Gly)
c.122T>G (p.Val41Gly)
c.9737T>G (p.Val3246Gly)
c.9749T>G (p.Val3250Gly)
c.9728T>G (p.Val3243Gly)
c.9383T>G (p.Val3128Gly)
c.5729T>G (p.Val1910Gly)
c.9623T>G (p.Val3208Gly)
c.9614T>G (p.Val3205Gly)
c.9629T>G (p.Val3210Gly)
c.3926T>G (p.Val1309Gly)
Xg.31204016A>GCA412648490DMDc.4598T>C (p.Val1533Ala)
c.548T>C (p.Val183Ala)
n.550T>C
c.2372T>C (p.Val791Ala)
n.1269T>C
n.851T>C
n.1270T>C
n.3244T>C
c.1607T>C (p.Val536Ala)
c.9752T>C (p.Val3251Ala)
c.5720T>C (p.Val1907Ala)
c.425T>C (p.Val142Ala)
c.491T>C (p.Val164Ala)
n.682T>C
c.1565T>C (p.Val522Ala)
c.2840T>C (p.Val947Ala)
c.9740T>C (p.Val3247Ala)
c.122T>C (p.Val41Ala)
c.9737T>C (p.Val3246Ala)
c.9749T>C (p.Val3250Ala)
c.9728T>C (p.Val3243Ala)
c.9383T>C (p.Val3128Ala)
c.5729T>C (p.Val1910Ala)
c.9623T>C (p.Val3208Ala)
c.9614T>C (p.Val3205Ala)
c.9629T>C (p.Val3210Ala)
c.3926T>C (p.Val1309Ala)
Xg.31204016A>TCA412648492DMDc.4598T>A (p.Val1533Asp)
c.548T>A (p.Val183Asp)
n.550T>A
c.2372T>A (p.Val791Asp)
n.1269T>A
n.851T>A
n.1270T>A
n.3244T>A
c.1607T>A (p.Val536Asp)
c.9752T>A (p.Val3251Asp)
c.5720T>A (p.Val1907Asp)
c.425T>A (p.Val142Asp)
c.491T>A (p.Val164Asp)
n.682T>A
c.1565T>A (p.Val522Asp)
c.2840T>A (p.Val947Asp)
c.9740T>A (p.Val3247Asp)
c.122T>A (p.Val41Asp)
c.9737T>A (p.Val3246Asp)
c.9749T>A (p.Val3250Asp)
c.9728T>A (p.Val3243Asp)
c.9383T>A (p.Val3128Asp)
c.5729T>A (p.Val1910Asp)
c.9623T>A (p.Val3208Asp)
c.9614T>A (p.Val3205Asp)
c.9629T>A (p.Val3210Asp)
c.3926T>A (p.Val1309Asp)
Xg.31204017C>ACA412648496DMDc.4597G>T (p.Val1533Phe)
c.547G>T (p.Val183Phe)
n.549G>T
c.2371G>T (p.Val791Phe)
n.1268G>T
n.850G>T
n.1269G>T
n.3243G>T
c.1606G>T (p.Val536Phe)
c.9751G>T (p.Val3251Phe)
c.5719G>T (p.Val1907Phe)
c.424G>T (p.Val142Phe)
c.490G>T (p.Val164Phe)
n.681G>T
c.1564G>T (p.Val522Phe)
c.2839G>T (p.Val947Phe)
c.9739G>T (p.Val3247Phe)
c.121G>T (p.Val41Phe)
c.9736G>T (p.Val3246Phe)
c.9748G>T (p.Val3250Phe)
c.9727G>T (p.Val3243Phe)
c.9382G>T (p.Val3128Phe)
c.5728G>T (p.Val1910Phe)
c.9622G>T (p.Val3208Phe)
c.9613G>T (p.Val3205Phe)
c.9628G>T (p.Val3210Phe)
c.3925G>T (p.Val1309Phe)
Xg.31204017C>GCA412648494DMDc.4597G>C (p.Val1533Leu)
c.547G>C (p.Val183Leu)
n.549G>C
c.2371G>C (p.Val791Leu)
n.1268G>C
n.850G>C
n.1269G>C
n.3243G>C
c.1606G>C (p.Val536Leu)
c.9751G>C (p.Val3251Leu)
c.5719G>C (p.Val1907Leu)
c.424G>C (p.Val142Leu)
c.490G>C (p.Val164Leu)
n.681G>C
c.1564G>C (p.Val522Leu)
c.2839G>C (p.Val947Leu)
c.9739G>C (p.Val3247Leu)
c.121G>C (p.Val41Leu)
c.9736G>C (p.Val3246Leu)
c.9748G>C (p.Val3250Leu)
c.9727G>C (p.Val3243Leu)
c.9382G>C (p.Val3128Leu)
c.5728G>C (p.Val1910Leu)
c.9622G>C (p.Val3208Leu)
c.9613G>C (p.Val3205Leu)
c.9628G>C (p.Val3210Leu)
c.3925G>C (p.Val1309Leu)
Xg.31204017C>TCA412648495DMDc.4597G>A (p.Val1533Ile)
c.547G>A (p.Val183Ile)
n.549G>A
c.2371G>A (p.Val791Ile)
n.1268G>A
n.850G>A
n.1269G>A
n.3243G>A
c.1606G>A (p.Val536Ile)
c.9751G>A (p.Val3251Ile)
c.5719G>A (p.Val1907Ile)
c.424G>A (p.Val142Ile)
c.490G>A (p.Val164Ile)
n.681G>A
c.1564G>A (p.Val522Ile)
c.2839G>A (p.Val947Ile)
c.9739G>A (p.Val3247Ile)
c.121G>A (p.Val41Ile)
c.9736G>A (p.Val3246Ile)
c.9748G>A (p.Val3250Ile)
c.9727G>A (p.Val3243Ile)
c.9382G>A (p.Val3128Ile)
c.5728G>A (p.Val1910Ile)
c.9622G>A (p.Val3208Ile)
c.9613G>A (p.Val3205Ile)
c.9628G>A (p.Val3210Ile)
c.3925G>A (p.Val1309Ile)
 gnomAD v4
Xg.31204018T>ACA412648498DMDc.4596A>T (p.Glu1532Asp)
c.546A>T (p.Glu182Asp)
n.548A>T
c.2370A>T (p.Glu790Asp)
n.1267A>T
n.849A>T
n.1268A>T
n.3242A>T
c.1605A>T (p.Glu535Asp)
c.9750A>T (p.Glu3250Asp)
c.5718A>T (p.Glu1906Asp)
c.423A>T (p.Glu141Asp)
c.489A>T (p.Glu163Asp)
n.680A>T
c.1563A>T (p.Glu521Asp)
c.2838A>T (p.Glu946Asp)
c.9738A>T (p.Glu3246Asp)
c.120A>T (p.Glu40Asp)
c.9735A>T (p.Glu3245Asp)
c.9747A>T (p.Glu3249Asp)
c.9726A>T (p.Glu3242Asp)
c.9381A>T (p.Glu3127Asp)
c.5727A>T (p.Glu1909Asp)
c.9621A>T (p.Glu3207Asp)
c.9612A>T (p.Glu3204Asp)
c.9627A>T (p.Glu3209Asp)
c.3924A>T (p.Glu1308Asp)
Xg.31204018T>CCA515856898DMDc.4596A>G (p.Glu1532=)
c.546A>G (p.Glu182=)
n.548A>G
c.2370A>G (p.Glu790=)
n.1267A>G
n.849A>G
n.1268A>G
n.3242A>G
c.1605A>G (p.Glu535=)
c.9750A>G (p.Glu3250=)
c.5718A>G (p.Glu1906=)
c.423A>G (p.Glu141=)
c.489A>G (p.Glu163=)
n.680A>G
c.1563A>G (p.Glu521=)
c.2838A>G (p.Glu946=)
c.9738A>G (p.Glu3246=)
c.120A>G (p.Glu40=)
c.9735A>G (p.Glu3245=)
c.9747A>G (p.Glu3249=)
c.9726A>G (p.Glu3242=)
c.9381A>G (p.Glu3127=)
c.5727A>G (p.Glu1909=)
c.9621A>G (p.Glu3207=)
c.9612A>G (p.Glu3204=)
c.9627A>G (p.Glu3209=)
c.3924A>G (p.Glu1308=)
 gnomAD v4
Xg.31204018T>GCA412648500DMDc.4596A>C (p.Glu1532Asp)
c.546A>C (p.Glu182Asp)
n.548A>C
c.2370A>C (p.Glu790Asp)
n.1267A>C
n.849A>C
n.1268A>C
n.3242A>C
c.1605A>C (p.Glu535Asp)
c.9750A>C (p.Glu3250Asp)
c.5718A>C (p.Glu1906Asp)
c.423A>C (p.Glu141Asp)
c.489A>C (p.Glu163Asp)
n.680A>C
c.1563A>C (p.Glu521Asp)
c.2838A>C (p.Glu946Asp)
c.9738A>C (p.Glu3246Asp)
c.120A>C (p.Glu40Asp)
c.9735A>C (p.Glu3245Asp)
c.9747A>C (p.Glu3249Asp)
c.9726A>C (p.Glu3242Asp)
c.9381A>C (p.Glu3127Asp)
c.5727A>C (p.Glu1909Asp)
c.9621A>C (p.Glu3207Asp)
c.9612A>C (p.Glu3204Asp)
c.9627A>C (p.Glu3209Asp)
c.3924A>C (p.Glu1308Asp)
 gnomAD v4
Xg.31204019T>ACA412648502DMDc.4595A>T (p.Glu1532Val)
c.545A>T (p.Glu182Val)
n.547A>T
c.2369A>T (p.Glu790Val)
n.1266A>T
n.848A>T
n.1267A>T
n.3241A>T
c.1604A>T (p.Glu535Val)
c.9749A>T (p.Glu3250Val)
c.5717A>T (p.Glu1906Val)
c.422A>T (p.Glu141Val)
c.488A>T (p.Glu163Val)
n.679A>T
c.1562A>T (p.Glu521Val)
c.2837A>T (p.Glu946Val)
c.9737A>T (p.Glu3246Val)
c.119A>T (p.Glu40Val)
c.9734A>T (p.Glu3245Val)
c.9746A>T (p.Glu3249Val)
c.9725A>T (p.Glu3242Val)
c.9380A>T (p.Glu3127Val)
c.5726A>T (p.Glu1909Val)
c.9620A>T (p.Glu3207Val)
c.9611A>T (p.Glu3204Val)
c.9626A>T (p.Glu3209Val)
c.3923A>T (p.Glu1308Val)
Xg.31204019T>CCA412648503DMDc.4595A>G (p.Glu1532Gly)
c.545A>G (p.Glu182Gly)
n.547A>G
c.2369A>G (p.Glu790Gly)
n.1266A>G
n.848A>G
n.1267A>G
n.3241A>G
c.1604A>G (p.Glu535Gly)
c.9749A>G (p.Glu3250Gly)
c.5717A>G (p.Glu1906Gly)
c.422A>G (p.Glu141Gly)
c.488A>G (p.Glu163Gly)
n.679A>G
c.1562A>G (p.Glu521Gly)
c.2837A>G (p.Glu946Gly)
c.9737A>G (p.Glu3246Gly)
c.119A>G (p.Glu40Gly)
c.9734A>G (p.Glu3245Gly)
c.9746A>G (p.Glu3249Gly)
c.9725A>G (p.Glu3242Gly)
c.9380A>G (p.Glu3127Gly)
c.5726A>G (p.Glu1909Gly)
c.9620A>G (p.Glu3207Gly)
c.9611A>G (p.Glu3204Gly)
c.9626A>G (p.Glu3209Gly)
c.3923A>G (p.Glu1308Gly)
Xg.31204019T>GCA412648504DMDc.4595A>C (p.Glu1532Ala)
c.545A>C (p.Glu182Ala)
n.547A>C
c.2369A>C (p.Glu790Ala)
n.1266A>C
n.848A>C
n.1267A>C
n.3241A>C
c.1604A>C (p.Glu535Ala)
c.9749A>C (p.Glu3250Ala)
c.5717A>C (p.Glu1906Ala)
c.422A>C (p.Glu141Ala)
c.488A>C (p.Glu163Ala)
n.679A>C
c.1562A>C (p.Glu521Ala)
c.2837A>C (p.Glu946Ala)
c.9737A>C (p.Glu3246Ala)
c.119A>C (p.Glu40Ala)
c.9734A>C (p.Glu3245Ala)
c.9746A>C (p.Glu3249Ala)
c.9725A>C (p.Glu3242Ala)
c.9380A>C (p.Glu3127Ala)
c.5726A>C (p.Glu1909Ala)
c.9620A>C (p.Glu3207Ala)
c.9611A>C (p.Glu3204Ala)
c.9626A>C (p.Glu3209Ala)
c.3923A>C (p.Glu1308Ala)
 ClinVar dbSNP
Xg.31204020C>ACA412648505DMDc.4594G>T (p.Glu1532Ter)
c.544G>T (p.Glu182Ter)
n.546G>T
c.2368G>T (p.Glu790Ter)
n.1265G>T
n.847G>T
n.1266G>T
n.3240G>T
c.1603G>T (p.Glu535Ter)
c.9748G>T (p.Glu3250Ter)
c.5716G>T (p.Glu1906Ter)
c.421G>T (p.Glu141Ter)
c.487G>T (p.Glu163Ter)
n.678G>T
c.1561G>T (p.Glu521Ter)
c.2836G>T (p.Glu946Ter)
c.9736G>T (p.Glu3246Ter)
c.118G>T (p.Glu40Ter)
c.9733G>T (p.Glu3245Ter)
c.9745G>T (p.Glu3249Ter)
c.9724G>T (p.Glu3242Ter)
c.9379G>T (p.Glu3127Ter)
c.5725G>T (p.Glu1909Ter)
c.9619G>T (p.Glu3207Ter)
c.9610G>T (p.Glu3204Ter)
c.9625G>T (p.Glu3209Ter)
c.3922G>T (p.Glu1308Ter)
 dbSNP
Xg.31204020C=CA2422347566DMDc.4594G= (p.Glu1532=)
c.544G= (p.Glu182=)
n.546G=
c.2368G= (p.Glu790=)
n.1265G=
n.847G=
n.1266G=
n.3240G=
c.1603G= (p.Glu535=)
c.9748G= (p.Glu3250=)
c.5716G= (p.Glu1906=)
c.421G= (p.Glu141=)
c.487G= (p.Glu163=)
n.678G=
c.1561G= (p.Glu521=)
c.2836G= (p.Glu946=)
c.9736G= (p.Glu3246=)
c.118G= (p.Glu40=)
c.9733G= (p.Glu3245=)
c.9745G= (p.Glu3249=)
c.9724G= (p.Glu3242=)
c.9379G= (p.Glu3127=)
c.5725G= (p.Glu1909=)
c.9619G= (p.Glu3207=)
c.9610G= (p.Glu3204=)
c.9625G= (p.Glu3209=)
c.3922G= (p.Glu1308=)
Xg.31204020C>GCA412648508DMDc.4594G>C (p.Glu1532Gln)
c.544G>C (p.Glu182Gln)
n.546G>C
c.2368G>C (p.Glu790Gln)
n.1265G>C
n.847G>C
n.1266G>C
n.3240G>C
c.1603G>C (p.Glu535Gln)
c.9748G>C (p.Glu3250Gln)
c.5716G>C (p.Glu1906Gln)
c.421G>C (p.Glu141Gln)
c.487G>C (p.Glu163Gln)
n.678G>C
c.1561G>C (p.Glu521Gln)
c.2836G>C (p.Glu946Gln)
c.9736G>C (p.Glu3246Gln)
c.118G>C (p.Glu40Gln)
c.9733G>C (p.Glu3245Gln)
c.9745G>C (p.Glu3249Gln)
c.9724G>C (p.Glu3242Gln)
c.9379G>C (p.Glu3127Gln)
c.5725G>C (p.Glu1909Gln)
c.9619G>C (p.Glu3207Gln)
c.9610G>C (p.Glu3204Gln)
c.9625G>C (p.Glu3209Gln)
c.3922G>C (p.Glu1308Gln)
Xg.31204020C>TCA412648506DMDc.4594G>A (p.Glu1532Lys)
c.544G>A (p.Glu182Lys)
n.546G>A
c.2368G>A (p.Glu790Lys)
n.1265G>A
n.847G>A
n.1266G>A
n.3240G>A
c.1603G>A (p.Glu535Lys)
c.9748G>A (p.Glu3250Lys)
c.5716G>A (p.Glu1906Lys)
c.421G>A (p.Glu141Lys)
c.487G>A (p.Glu163Lys)
n.678G>A
c.1561G>A (p.Glu521Lys)
c.2836G>A (p.Glu946Lys)
c.9736G>A (p.Glu3246Lys)
c.118G>A (p.Glu40Lys)
c.9733G>A (p.Glu3245Lys)
c.9745G>A (p.Glu3249Lys)
c.9724G>A (p.Glu3242Lys)
c.9379G>A (p.Glu3127Lys)
c.5725G>A (p.Glu1909Lys)
c.9619G>A (p.Glu3207Lys)
c.9610G>A (p.Glu3204Lys)
c.9625G>A (p.Glu3209Lys)
c.3922G>A (p.Glu1308Lys)
 ClinVar dbSNP
Xg.31204021A>CCA515856899DMDc.4593T>G (p.Gly1531=)
c.543T>G (p.Gly181=)
n.545T>G
c.2367T>G (p.Gly789=)
n.1264T>G
n.846T>G
n.1265T>G
n.3239T>G
c.1602T>G (p.Gly534=)
c.9747T>G (p.Gly3249=)
c.5715T>G (p.Gly1905=)
c.420T>G (p.Gly140=)
c.486T>G (p.Gly162=)
n.677T>G
c.1560T>G (p.Gly520=)
c.2835T>G (p.Gly945=)
c.9735T>G (p.Gly3245=)
c.117T>G (p.Gly39=)
c.9732T>G (p.Gly3244=)
c.9744T>G (p.Gly3248=)
c.9723T>G (p.Gly3241=)
c.9378T>G (p.Gly3126=)
c.5724T>G (p.Gly1908=)
c.9618T>G (p.Gly3206=)
c.9609T>G (p.Gly3203=)
c.9624T>G (p.Gly3208=)
c.3921T>G (p.Gly1307=)
Xg.31204021A>GCA515856902DMDc.4593T>C (p.Gly1531=)
c.543T>C (p.Gly181=)
n.545T>C
c.2367T>C (p.Gly789=)
n.1264T>C
n.846T>C
n.1265T>C
n.3239T>C
c.1602T>C (p.Gly534=)
c.9747T>C (p.Gly3249=)
c.5715T>C (p.Gly1905=)
c.420T>C (p.Gly140=)
c.486T>C (p.Gly162=)
n.677T>C
c.1560T>C (p.Gly520=)
c.2835T>C (p.Gly945=)
c.9735T>C (p.Gly3245=)
c.117T>C (p.Gly39=)
c.9732T>C (p.Gly3244=)
c.9744T>C (p.Gly3248=)
c.9723T>C (p.Gly3241=)
c.9378T>C (p.Gly3126=)
c.5724T>C (p.Gly1908=)
c.9618T>C (p.Gly3206=)
c.9609T>C (p.Gly3203=)
c.9624T>C (p.Gly3208=)
c.3921T>C (p.Gly1307=)
Xg.31204021A>TCA515856901DMDc.4593T>A (p.Gly1531=)
c.543T>A (p.Gly181=)
n.545T>A
c.2367T>A (p.Gly789=)
n.1264T>A
n.846T>A
n.1265T>A
n.3239T>A
c.1602T>A (p.Gly534=)
c.9747T>A (p.Gly3249=)
c.5715T>A (p.Gly1905=)
c.420T>A (p.Gly140=)
c.486T>A (p.Gly162=)
n.677T>A
c.1560T>A (p.Gly520=)
c.2835T>A (p.Gly945=)
c.9735T>A (p.Gly3245=)
c.117T>A (p.Gly39=)
c.9732T>A (p.Gly3244=)
c.9744T>A (p.Gly3248=)
c.9723T>A (p.Gly3241=)
c.9378T>A (p.Gly3126=)
c.5724T>A (p.Gly1908=)
c.9618T>A (p.Gly3206=)
c.9609T>A (p.Gly3203=)
c.9624T>A (p.Gly3208=)
c.3921T>A (p.Gly1307=)
Xg.31204022C>ACA412648509DMDc.4592G>T (p.Gly1531Val)
c.542G>T (p.Gly181Val)
n.544G>T
c.2366G>T (p.Gly789Val)
n.1263G>T
n.845G>T
n.1264G>T
n.3238G>T
c.1601G>T (p.Gly534Val)
c.9746G>T (p.Gly3249Val)
c.5714G>T (p.Gly1905Val)
c.419G>T (p.Gly140Val)
c.485G>T (p.Gly162Val)
n.676G>T
c.1559G>T (p.Gly520Val)
c.2834G>T (p.Gly945Val)
c.9734G>T (p.Gly3245Val)
c.116G>T (p.Gly39Val)
c.9731G>T (p.Gly3244Val)
c.9743G>T (p.Gly3248Val)
c.9722G>T (p.Gly3241Val)
c.9377G>T (p.Gly3126Val)
c.5723G>T (p.Gly1908Val)
c.9617G>T (p.Gly3206Val)
c.9608G>T (p.Gly3203Val)
c.9623G>T (p.Gly3208Val)
c.3920G>T (p.Gly1307Val)
 gnomAD v4
Xg.31204022C>GCA412648510DMDc.4592G>C (p.Gly1531Ala)
c.542G>C (p.Gly181Ala)
n.544G>C
c.2366G>C (p.Gly789Ala)
n.1263G>C
n.845G>C
n.1264G>C
n.3238G>C
c.1601G>C (p.Gly534Ala)
c.9746G>C (p.Gly3249Ala)
c.5714G>C (p.Gly1905Ala)
c.419G>C (p.Gly140Ala)
c.485G>C (p.Gly162Ala)
n.676G>C
c.1559G>C (p.Gly520Ala)
c.2834G>C (p.Gly945Ala)
c.9734G>C (p.Gly3245Ala)
c.116G>C (p.Gly39Ala)
c.9731G>C (p.Gly3244Ala)
c.9743G>C (p.Gly3248Ala)
c.9722G>C (p.Gly3241Ala)
c.9377G>C (p.Gly3126Ala)
c.5723G>C (p.Gly1908Ala)
c.9617G>C (p.Gly3206Ala)
c.9608G>C (p.Gly3203Ala)
c.9623G>C (p.Gly3208Ala)
c.3920G>C (p.Gly1307Ala)
Xg.31204022C>TCA412648513DMDc.4592G>A (p.Gly1531Asp)
c.542G>A (p.Gly181Asp)
n.544G>A
c.2366G>A (p.Gly789Asp)
n.1263G>A
n.845G>A
n.1264G>A
n.3238G>A
c.1601G>A (p.Gly534Asp)
c.9746G>A (p.Gly3249Asp)
c.5714G>A (p.Gly1905Asp)
c.419G>A (p.Gly140Asp)
c.485G>A (p.Gly162Asp)
n.676G>A
c.1559G>A (p.Gly520Asp)
c.2834G>A (p.Gly945Asp)
c.9734G>A (p.Gly3245Asp)
c.116G>A (p.Gly39Asp)
c.9731G>A (p.Gly3244Asp)
c.9743G>A (p.Gly3248Asp)
c.9722G>A (p.Gly3241Asp)
c.9377G>A (p.Gly3126Asp)
c.5723G>A (p.Gly1908Asp)
c.9617G>A (p.Gly3206Asp)
c.9608G>A (p.Gly3203Asp)
c.9623G>A (p.Gly3208Asp)
c.3920G>A (p.Gly1307Asp)
Xg.31204023C>ACA412648515DMDc.4591G>T (p.Gly1531Cys)
c.541G>T (p.Gly181Cys)
n.543G>T
c.2365G>T (p.Gly789Cys)
n.1262G>T
n.844G>T
n.1263G>T
n.3237G>T
c.1600G>T (p.Gly534Cys)
c.9745G>T (p.Gly3249Cys)
c.5713G>T (p.Gly1905Cys)
c.418G>T (p.Gly140Cys)
c.484G>T (p.Gly162Cys)
n.675G>T
c.1558G>T (p.Gly520Cys)
c.2833G>T (p.Gly945Cys)
c.9733G>T (p.Gly3245Cys)
c.115G>T (p.Gly39Cys)
c.9730G>T (p.Gly3244Cys)
c.9742G>T (p.Gly3248Cys)
c.9721G>T (p.Gly3241Cys)
c.9376G>T (p.Gly3126Cys)
c.5722G>T (p.Gly1908Cys)
c.9616G>T (p.Gly3206Cys)
c.9607G>T (p.Gly3203Cys)
c.9622G>T (p.Gly3208Cys)
c.3919G>T (p.Gly1307Cys)
Xg.31204023C>GCA412648517DMDc.4591G>C (p.Gly1531Arg)
c.541G>C (p.Gly181Arg)
n.543G>C
c.2365G>C (p.Gly789Arg)
n.1262G>C
n.844G>C
n.1263G>C
n.3237G>C
c.1600G>C (p.Gly534Arg)
c.9745G>C (p.Gly3249Arg)
c.5713G>C (p.Gly1905Arg)
c.418G>C (p.Gly140Arg)
c.484G>C (p.Gly162Arg)
n.675G>C
c.1558G>C (p.Gly520Arg)
c.2833G>C (p.Gly945Arg)
c.9733G>C (p.Gly3245Arg)
c.115G>C (p.Gly39Arg)
c.9730G>C (p.Gly3244Arg)
c.9742G>C (p.Gly3248Arg)
c.9721G>C (p.Gly3241Arg)
c.9376G>C (p.Gly3126Arg)
c.5722G>C (p.Gly1908Arg)
c.9616G>C (p.Gly3206Arg)
c.9607G>C (p.Gly3203Arg)
c.9622G>C (p.Gly3208Arg)
c.3919G>C (p.Gly1307Arg)
Xg.31204023C>TCA412648518DMDc.4591G>A (p.Gly1531Ser)
c.541G>A (p.Gly181Ser)
n.543G>A
c.2365G>A (p.Gly789Ser)
n.1262G>A
n.844G>A
n.1263G>A
n.3237G>A
c.1600G>A (p.Gly534Ser)
c.9745G>A (p.Gly3249Ser)
c.5713G>A (p.Gly1905Ser)
c.418G>A (p.Gly140Ser)
c.484G>A (p.Gly162Ser)
n.675G>A
c.1558G>A (p.Gly520Ser)
c.2833G>A (p.Gly945Ser)
c.9733G>A (p.Gly3245Ser)
c.115G>A (p.Gly39Ser)
c.9730G>A (p.Gly3244Ser)
c.9742G>A (p.Gly3248Ser)
c.9721G>A (p.Gly3241Ser)
c.9376G>A (p.Gly3126Ser)
c.5722G>A (p.Gly1908Ser)
c.9616G>A (p.Gly3206Ser)
c.9607G>A (p.Gly3203Ser)
c.9622G>A (p.Gly3208Ser)
c.3919G>A (p.Gly1307Ser)
Xg.31204024C>ACA412648519DMDc.4590G>T (p.Leu1530Phe)
c.540G>T (p.Leu180Phe)
n.542G>T
c.2364G>T (p.Leu788Phe)
n.1261G>T
n.843G>T
n.1262G>T
n.3236G>T
c.1599G>T (p.Leu533Phe)
c.9744G>T (p.Leu3248Phe)
c.5712G>T (p.Leu1904Phe)
c.417G>T (p.Leu139Phe)
c.483G>T (p.Leu161Phe)
n.674G>T
c.1557G>T (p.Leu519Phe)
c.2832G>T (p.Leu944Phe)
c.9732G>T (p.Leu3244Phe)
c.114G>T (p.Leu38Phe)
c.9729G>T (p.Leu3243Phe)
c.9741G>T (p.Leu3247Phe)
c.9720G>T (p.Leu3240Phe)
c.9375G>T (p.Leu3125Phe)
c.5721G>T (p.Leu1907Phe)
c.9615G>T (p.Leu3205Phe)
c.9606G>T (p.Leu3202Phe)
c.9621G>T (p.Leu3207Phe)
c.3918G>T (p.Leu1306Phe)
Xg.31204024C>GCA412648520DMDc.4590G>C (p.Leu1530Phe)
c.540G>C (p.Leu180Phe)
n.542G>C
c.2364G>C (p.Leu788Phe)
n.1261G>C
n.843G>C
n.1262G>C
n.3236G>C
c.1599G>C (p.Leu533Phe)
c.9744G>C (p.Leu3248Phe)
c.5712G>C (p.Leu1904Phe)
c.417G>C (p.Leu139Phe)
c.483G>C (p.Leu161Phe)
n.674G>C
c.1557G>C (p.Leu519Phe)
c.2832G>C (p.Leu944Phe)
c.9732G>C (p.Leu3244Phe)
c.114G>C (p.Leu38Phe)
c.9729G>C (p.Leu3243Phe)
c.9741G>C (p.Leu3247Phe)
c.9720G>C (p.Leu3240Phe)
c.9375G>C (p.Leu3125Phe)
c.5721G>C (p.Leu1907Phe)
c.9615G>C (p.Leu3205Phe)
c.9606G>C (p.Leu3202Phe)
c.9621G>C (p.Leu3207Phe)
c.3918G>C (p.Leu1306Phe)
Xg.31204024C>TCA515856903DMDc.4590G>A (p.Leu1530=)
c.540G>A (p.Leu180=)
n.542G>A
c.2364G>A (p.Leu788=)
n.1261G>A
n.843G>A
n.1262G>A
n.3236G>A
c.1599G>A (p.Leu533=)
c.9744G>A (p.Leu3248=)
c.5712G>A (p.Leu1904=)
c.417G>A (p.Leu139=)
c.483G>A (p.Leu161=)
n.674G>A
c.1557G>A (p.Leu519=)
c.2832G>A (p.Leu944=)
c.9732G>A (p.Leu3244=)
c.114G>A (p.Leu38=)
c.9729G>A (p.Leu3243=)
c.9741G>A (p.Leu3247=)
c.9720G>A (p.Leu3240=)
c.9375G>A (p.Leu3125=)
c.5721G>A (p.Leu1907=)
c.9615G>A (p.Leu3205=)
c.9606G>A (p.Leu3202=)
c.9621G>A (p.Leu3207=)
c.3918G>A (p.Leu1306=)
Xg.31204024_31204032delinsCAACTGTCTCA2422347567DMDc.4582_4590delinsAGACAGTTG (p.Arg1528=)
c.532_540delinsAGACAGTTG (p.Arg178=)
n.534_542delinsAGACAGTTG
c.2356_2364delinsAGACAGTTG (p.Arg786=)
n.1253_1261delinsAGACAGTTG
n.835_843delinsAGACAGTTG
n.1254_1262delinsAGACAGTTG
n.3228_3236delinsAGACAGTTG
c.1591_1599delinsAGACAGTTG (p.Arg531=)
c.9736_9744delinsAGACAGTTG (p.Arg3246=)
c.5704_5712delinsAGACAGTTG (p.Arg1902=)
c.409_417delinsAGACAGTTG (p.Arg137=)
c.475_483delinsAGACAGTTG (p.Arg159=)
n.666_674delinsAGACAGTTG
c.1549_1557delinsAGACAGTTG (p.Arg517=)
c.2824_2832delinsAGACAGTTG (p.Arg942=)
c.9724_9732delinsAGACAGTTG (p.Arg3242=)
c.106_114delinsAGACAGTTG (p.Arg36=)
c.9721_9729delinsAGACAGTTG (p.Arg3241=)
c.9733_9741delinsAGACAGTTG (p.Arg3245=)
c.9712_9720delinsAGACAGTTG (p.Arg3238=)
c.9367_9375delinsAGACAGTTG (p.Arg3123=)
c.5713_5721delinsAGACAGTTG (p.Arg1905=)
c.9607_9615delinsAGACAGTTG (p.Arg3203=)
c.9598_9606delinsAGACAGTTG (p.Arg3200=)
c.9613_9621delinsAGACAGTTG (p.Arg3205=)
c.3910_3918delinsAGACAGTTG (p.Arg1304=)
Xg.31204025A=CA2422347568DMDc.4589T= (p.Leu1530=)
c.539T= (p.Leu180=)
n.541T=
c.2363T= (p.Leu788=)
n.1260T=
n.842T=
n.1261T=
n.3235T=
c.1598T= (p.Leu533=)
c.9743T= (p.Leu3248=)
c.5711T= (p.Leu1904=)
c.416T= (p.Leu139=)
c.482T= (p.Leu161=)
n.673T=
c.1556T= (p.Leu519=)
c.2831T= (p.Leu944=)
c.9731T= (p.Leu3244=)
c.113T= (p.Leu38=)
c.9728T= (p.Leu3243=)
c.9740T= (p.Leu3247=)
c.9719T= (p.Leu3240=)
c.9374T= (p.Leu3125=)
c.5720T= (p.Leu1907=)
c.9614T= (p.Leu3205=)
c.9605T= (p.Leu3202=)
c.9620T= (p.Leu3207=)
c.3917T= (p.Leu1306=)
Xg.31204025A>CCA412648522DMDc.4589T>G (p.Leu1530Trp)
c.539T>G (p.Leu180Trp)
n.541T>G
c.2363T>G (p.Leu788Trp)
n.1260T>G
n.842T>G
n.1261T>G
n.3235T>G
c.1598T>G (p.Leu533Trp)
c.9743T>G (p.Leu3248Trp)
c.5711T>G (p.Leu1904Trp)
c.416T>G (p.Leu139Trp)
c.482T>G (p.Leu161Trp)
n.673T>G
c.1556T>G (p.Leu519Trp)
c.2831T>G (p.Leu944Trp)
c.9731T>G (p.Leu3244Trp)
c.113T>G (p.Leu38Trp)
c.9728T>G (p.Leu3243Trp)
c.9740T>G (p.Leu3247Trp)
c.9719T>G (p.Leu3240Trp)
c.9374T>G (p.Leu3125Trp)
c.5720T>G (p.Leu1907Trp)
c.9614T>G (p.Leu3205Trp)
c.9605T>G (p.Leu3202Trp)
c.9620T>G (p.Leu3207Trp)
c.3917T>G (p.Leu1306Trp)
Xg.31204025A>GCA412648524DMDc.4589T>C (p.Leu1530Ser)
c.539T>C (p.Leu180Ser)
n.541T>C
c.2363T>C (p.Leu788Ser)
n.1260T>C
n.842T>C
n.1261T>C
n.3235T>C
c.1598T>C (p.Leu533Ser)
c.9743T>C (p.Leu3248Ser)
c.5711T>C (p.Leu1904Ser)
c.416T>C (p.Leu139Ser)
c.482T>C (p.Leu161Ser)
n.673T>C
c.1556T>C (p.Leu519Ser)
c.2831T>C (p.Leu944Ser)
c.9731T>C (p.Leu3244Ser)
c.113T>C (p.Leu38Ser)
c.9728T>C (p.Leu3243Ser)
c.9740T>C (p.Leu3247Ser)
c.9719T>C (p.Leu3240Ser)
c.9374T>C (p.Leu3125Ser)
c.5720T>C (p.Leu1907Ser)
c.9614T>C (p.Leu3205Ser)
c.9605T>C (p.Leu3202Ser)
c.9620T>C (p.Leu3207Ser)
c.3917T>C (p.Leu1306Ser)
Xg.31204025A>TCA412648525DMDc.4589T>A (p.Leu1530Ter)
c.539T>A (p.Leu180Ter)
n.541T>A
c.2363T>A (p.Leu788Ter)
n.1260T>A
n.842T>A
n.1261T>A
n.3235T>A
c.1598T>A (p.Leu533Ter)
c.9743T>A (p.Leu3248Ter)
c.5711T>A (p.Leu1904Ter)
c.416T>A (p.Leu139Ter)
c.482T>A (p.Leu161Ter)
n.673T>A
c.1556T>A (p.Leu519Ter)
c.2831T>A (p.Leu944Ter)
c.9731T>A (p.Leu3244Ter)
c.113T>A (p.Leu38Ter)
c.9728T>A (p.Leu3243Ter)
c.9740T>A (p.Leu3247Ter)
c.9719T>A (p.Leu3240Ter)
c.9374T>A (p.Leu3125Ter)
c.5720T>A (p.Leu1907Ter)
c.9614T>A (p.Leu3205Ter)
c.9605T>A (p.Leu3202Ter)
c.9620T>A (p.Leu3207Ter)
c.3917T>A (p.Leu1306Ter)
 ClinVar dbSNP
Xg.31204025_31204032delCA874607929DMDc.4582_4589del (p.Arg1528GlyfsTer2)
c.532_539del (p.Arg178GlyfsTer2)
n.534_541del
c.2356_2363del (p.Arg786GlyfsTer2)
n.1253_1260del
n.835_842del
n.1254_1261del
n.3228_3235del
c.1591_1598del (p.Arg531GlyfsTer2)
c.9736_9743del (p.Arg3246GlyfsTer2)
c.5704_5711del (p.Arg1902GlyfsTer2)
c.409_416del (p.Arg137GlyfsTer2)
c.475_482del (p.Arg159GlyfsTer2)
n.666_673del
c.1549_1556del (p.Arg517GlyfsTer2)
c.2824_2831del (p.Arg942GlyfsTer2)
c.9724_9731del (p.Arg3242GlyfsTer2)
c.106_113del (p.Arg36GlyfsTer2)
c.9721_9728del (p.Arg3241GlyfsTer2)
c.9733_9740del (p.Arg3245GlyfsTer2)
c.9712_9719del (p.Arg3238GlyfsTer2)
c.9367_9374del (p.Arg3123GlyfsTer2)
c.5713_5720del (p.Arg1905GlyfsTer2)
c.9607_9614del (p.Arg3203GlyfsTer2)
c.9598_9605del (p.Arg3200GlyfsTer2)
c.9613_9620del (p.Arg3205GlyfsTer2)
c.3910_3917del (p.Arg1304GlyfsTer2)
 dbSNP

Number of alleles fetched