Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.31206566A>GCA2693386977DMDc.4495+16T>C (n.4495+16T>C)
c.445+16T>C (n.445+16T>C)
n.447+16T>C
c.2269+16T>C (n.2269+16T>C)
n.1166+16T>C
n.748+16T>C
n.1167+16T>C
n.3141+16T>C
c.1504+16T>C (n.1504+16T>C)
c.9649+16T>C (n.9649+16T>C)
c.5617+16T>C (n.5617+16T>C)
c.322+16T>C (n.322+16T>C)
c.388+16T>C (n.388+16T>C)
n.579+16T>C
c.1462+16T>C (n.1462+16T>C)
c.2737+16T>C (n.2737+16T>C)
c.9637+16T>C (n.9637+16T>C)
c.19+16T>C (n.19+16T>C)
c.9634+16T>C (n.9634+16T>C)
c.9646+16T>C (n.9646+16T>C)
c.9625+16T>C (n.9625+16T>C)
c.9280+16T>C (n.9280+16T>C)
c.5626+16T>C (n.5626+16T>C)
c.9520+16T>C (n.9520+16T>C)
c.9511+16T>C (n.9511+16T>C)
c.9526+16T>C (n.9526+16T>C)
c.3823+16T>C (n.3823+16T>C)
 gnomAD v4
Xg.31206567A=CA2422348441DMDc.4495+15T= (n.4495+15T=)
c.445+15T= (n.445+15T=)
n.447+15T=
c.2269+15T= (n.2269+15T=)
n.1166+15T=
n.748+15T=
n.1167+15T=
n.3141+15T=
c.1504+15T= (n.1504+15T=)
c.9649+15T= (n.9649+15T=)
c.5617+15T= (n.5617+15T=)
c.322+15T= (n.322+15T=)
c.388+15T= (n.388+15T=)
n.579+15T=
c.1462+15T= (n.1462+15T=)
c.2737+15T= (n.2737+15T=)
c.9637+15T= (n.9637+15T=)
c.19+15T= (n.19+15T=)
c.9634+15T= (n.9634+15T=)
c.9646+15T= (n.9646+15T=)
c.9625+15T= (n.9625+15T=)
c.9280+15T= (n.9280+15T=)
c.5626+15T= (n.5626+15T=)
c.9520+15T= (n.9520+15T=)
c.9511+15T= (n.9511+15T=)
c.9526+15T= (n.9526+15T=)
c.3823+15T= (n.3823+15T=)
Xg.31206567A>CCA2422348442DMDc.4495+15T>G (n.4495+15T>G)
c.445+15T>G (n.445+15T>G)
n.447+15T>G
c.2269+15T>G (n.2269+15T>G)
n.1166+15T>G
n.748+15T>G
n.1167+15T>G
n.3141+15T>G
c.1504+15T>G (n.1504+15T>G)
c.9649+15T>G (n.9649+15T>G)
c.5617+15T>G (n.5617+15T>G)
c.322+15T>G (n.322+15T>G)
c.388+15T>G (n.388+15T>G)
n.579+15T>G
c.1462+15T>G (n.1462+15T>G)
c.2737+15T>G (n.2737+15T>G)
c.9637+15T>G (n.9637+15T>G)
c.19+15T>G (n.19+15T>G)
c.9634+15T>G (n.9634+15T>G)
c.9646+15T>G (n.9646+15T>G)
c.9625+15T>G (n.9625+15T>G)
c.9280+15T>G (n.9280+15T>G)
c.5626+15T>G (n.5626+15T>G)
c.9520+15T>G (n.9520+15T>G)
c.9511+15T>G (n.9511+15T>G)
c.9526+15T>G (n.9526+15T>G)
c.3823+15T>G (n.3823+15T>G)
 dbSNP
Xg.31206567A>GCA285627DMDc.4495+15T>C (n.4495+15T>C)
c.445+15T>C (n.445+15T>C)
n.447+15T>C
c.2269+15T>C (n.2269+15T>C)
n.1166+15T>C
n.748+15T>C
n.1167+15T>C
n.3141+15T>C
c.1504+15T>C (n.1504+15T>C)
c.9649+15T>C (n.9649+15T>C)
c.5617+15T>C (n.5617+15T>C)
c.322+15T>C (n.322+15T>C)
c.388+15T>C (n.388+15T>C)
n.579+15T>C
c.1462+15T>C (n.1462+15T>C)
c.2737+15T>C (n.2737+15T>C)
c.9637+15T>C (n.9637+15T>C)
c.19+15T>C (n.19+15T>C)
c.9634+15T>C (n.9634+15T>C)
c.9646+15T>C (n.9646+15T>C)
c.9625+15T>C (n.9625+15T>C)
c.9280+15T>C (n.9280+15T>C)
c.5626+15T>C (n.5626+15T>C)
c.9520+15T>C (n.9520+15T>C)
c.9511+15T>C (n.9511+15T>C)
c.9526+15T>C (n.9526+15T>C)
c.3823+15T>C (n.3823+15T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31206567A>TCA2693386978DMDc.4495+15T>A (n.4495+15T>A)
c.445+15T>A (n.445+15T>A)
n.447+15T>A
c.2269+15T>A (n.2269+15T>A)
n.1166+15T>A
n.748+15T>A
n.1167+15T>A
n.3141+15T>A
c.1504+15T>A (n.1504+15T>A)
c.9649+15T>A (n.9649+15T>A)
c.5617+15T>A (n.5617+15T>A)
c.322+15T>A (n.322+15T>A)
c.388+15T>A (n.388+15T>A)
n.579+15T>A
c.1462+15T>A (n.1462+15T>A)
c.2737+15T>A (n.2737+15T>A)
c.9637+15T>A (n.9637+15T>A)
c.19+15T>A (n.19+15T>A)
c.9634+15T>A (n.9634+15T>A)
c.9646+15T>A (n.9646+15T>A)
c.9625+15T>A (n.9625+15T>A)
c.9280+15T>A (n.9280+15T>A)
c.5626+15T>A (n.5626+15T>A)
c.9520+15T>A (n.9520+15T>A)
c.9511+15T>A (n.9511+15T>A)
c.9526+15T>A (n.9526+15T>A)
c.3823+15T>A (n.3823+15T>A)
 gnomAD v4
Xg.31206568T>CCA328407913DMDc.4495+14A>G (n.4495+14A>G)
c.445+14A>G (n.445+14A>G)
n.447+14A>G
c.2269+14A>G (n.2269+14A>G)
n.1166+14A>G
n.748+14A>G
n.1167+14A>G
n.3141+14A>G
c.1504+14A>G (n.1504+14A>G)
c.9649+14A>G (n.9649+14A>G)
c.5617+14A>G (n.5617+14A>G)
c.322+14A>G (n.322+14A>G)
c.388+14A>G (n.388+14A>G)
n.579+14A>G
c.1462+14A>G (n.1462+14A>G)
c.2737+14A>G (n.2737+14A>G)
c.9637+14A>G (n.9637+14A>G)
c.19+14A>G (n.19+14A>G)
c.9634+14A>G (n.9634+14A>G)
c.9646+14A>G (n.9646+14A>G)
c.9625+14A>G (n.9625+14A>G)
c.9280+14A>G (n.9280+14A>G)
c.5626+14A>G (n.5626+14A>G)
c.9520+14A>G (n.9520+14A>G)
c.9511+14A>G (n.9511+14A>G)
c.9526+14A>G (n.9526+14A>G)
c.3823+14A>G (n.3823+14A>G)
 dbSNP
Xg.31206568T=CA2422348443DMDc.4495+14A= (n.4495+14A=)
c.445+14A= (n.445+14A=)
n.447+14A=
c.2269+14A= (n.2269+14A=)
n.1166+14A=
n.748+14A=
n.1167+14A=
n.3141+14A=
c.1504+14A= (n.1504+14A=)
c.9649+14A= (n.9649+14A=)
c.5617+14A= (n.5617+14A=)
c.322+14A= (n.322+14A=)
c.388+14A= (n.388+14A=)
n.579+14A=
c.1462+14A= (n.1462+14A=)
c.2737+14A= (n.2737+14A=)
c.9637+14A= (n.9637+14A=)
c.19+14A= (n.19+14A=)
c.9634+14A= (n.9634+14A=)
c.9646+14A= (n.9646+14A=)
c.9625+14A= (n.9625+14A=)
c.9280+14A= (n.9280+14A=)
c.5626+14A= (n.5626+14A=)
c.9520+14A= (n.9520+14A=)
c.9511+14A= (n.9511+14A=)
c.9526+14A= (n.9526+14A=)
c.3823+14A= (n.3823+14A=)
Xg.31206569A>GCA2693386979DMDc.4495+13T>C (n.4495+13T>C)
c.445+13T>C (n.445+13T>C)
n.447+13T>C
c.2269+13T>C (n.2269+13T>C)
n.1166+13T>C
n.748+13T>C
n.1167+13T>C
n.3141+13T>C
c.1504+13T>C (n.1504+13T>C)
c.9649+13T>C (n.9649+13T>C)
c.5617+13T>C (n.5617+13T>C)
c.322+13T>C (n.322+13T>C)
c.388+13T>C (n.388+13T>C)
n.579+13T>C
c.1462+13T>C (n.1462+13T>C)
c.2737+13T>C (n.2737+13T>C)
c.9637+13T>C (n.9637+13T>C)
c.19+13T>C (n.19+13T>C)
c.9634+13T>C (n.9634+13T>C)
c.9646+13T>C (n.9646+13T>C)
c.9625+13T>C (n.9625+13T>C)
c.9280+13T>C (n.9280+13T>C)
c.5626+13T>C (n.5626+13T>C)
c.9520+13T>C (n.9520+13T>C)
c.9511+13T>C (n.9511+13T>C)
c.9526+13T>C (n.9526+13T>C)
c.3823+13T>C (n.3823+13T>C)
 gnomAD v4
Xg.31206569A>TCA2579578639DMDc.4495+13T>A (n.4495+13T>A)
c.445+13T>A (n.445+13T>A)
n.447+13T>A
c.2269+13T>A (n.2269+13T>A)
n.1166+13T>A
n.748+13T>A
n.1167+13T>A
n.3141+13T>A
c.1504+13T>A (n.1504+13T>A)
c.9649+13T>A (n.9649+13T>A)
c.5617+13T>A (n.5617+13T>A)
c.322+13T>A (n.322+13T>A)
c.388+13T>A (n.388+13T>A)
n.579+13T>A
c.1462+13T>A (n.1462+13T>A)
c.2737+13T>A (n.2737+13T>A)
c.9637+13T>A (n.9637+13T>A)
c.19+13T>A (n.19+13T>A)
c.9634+13T>A (n.9634+13T>A)
c.9646+13T>A (n.9646+13T>A)
c.9625+13T>A (n.9625+13T>A)
c.9280+13T>A (n.9280+13T>A)
c.5626+13T>A (n.5626+13T>A)
c.9520+13T>A (n.9520+13T>A)
c.9511+13T>A (n.9511+13T>A)
c.9526+13T>A (n.9526+13T>A)
c.3823+13T>A (n.3823+13T>A)
Xg.31206570T>ACA657804375DMDc.4495+12A>T (n.4495+12A>T)
c.445+12A>T (n.445+12A>T)
n.447+12A>T
c.2269+12A>T (n.2269+12A>T)
n.1166+12A>T
n.748+12A>T
n.1167+12A>T
n.3141+12A>T
c.1504+12A>T (n.1504+12A>T)
c.9649+12A>T (n.9649+12A>T)
c.5617+12A>T (n.5617+12A>T)
c.322+12A>T (n.322+12A>T)
c.388+12A>T (n.388+12A>T)
n.579+12A>T
c.1462+12A>T (n.1462+12A>T)
c.2737+12A>T (n.2737+12A>T)
c.9637+12A>T (n.9637+12A>T)
c.19+12A>T (n.19+12A>T)
c.9634+12A>T (n.9634+12A>T)
c.9646+12A>T (n.9646+12A>T)
c.9625+12A>T (n.9625+12A>T)
c.9280+12A>T (n.9280+12A>T)
c.5626+12A>T (n.5626+12A>T)
c.9520+12A>T (n.9520+12A>T)
c.9511+12A>T (n.9511+12A>T)
c.9526+12A>T (n.9526+12A>T)
c.3823+12A>T (n.3823+12A>T)
 COSMIC
Xg.31206571A>GCA2693386980DMDc.4495+11T>C (n.4495+11T>C)
c.445+11T>C (n.445+11T>C)
n.447+11T>C
c.2269+11T>C (n.2269+11T>C)
n.1166+11T>C
n.748+11T>C
n.1167+11T>C
n.3141+11T>C
c.1504+11T>C (n.1504+11T>C)
c.9649+11T>C (n.9649+11T>C)
c.5617+11T>C (n.5617+11T>C)
c.322+11T>C (n.322+11T>C)
c.388+11T>C (n.388+11T>C)
n.579+11T>C
c.1462+11T>C (n.1462+11T>C)
c.2737+11T>C (n.2737+11T>C)
c.9637+11T>C (n.9637+11T>C)
c.19+11T>C (n.19+11T>C)
c.9634+11T>C (n.9634+11T>C)
c.9646+11T>C (n.9646+11T>C)
c.9625+11T>C (n.9625+11T>C)
c.9280+11T>C (n.9280+11T>C)
c.5626+11T>C (n.5626+11T>C)
c.9520+11T>C (n.9520+11T>C)
c.9511+11T>C (n.9511+11T>C)
c.9526+11T>C (n.9526+11T>C)
c.3823+11T>C (n.3823+11T>C)
 gnomAD v4
Xg.31206571A>TCA2693386981DMDc.4495+11T>A (n.4495+11T>A)
c.445+11T>A (n.445+11T>A)
n.447+11T>A
c.2269+11T>A (n.2269+11T>A)
n.1166+11T>A
n.748+11T>A
n.1167+11T>A
n.3141+11T>A
c.1504+11T>A (n.1504+11T>A)
c.9649+11T>A (n.9649+11T>A)
c.5617+11T>A (n.5617+11T>A)
c.322+11T>A (n.322+11T>A)
c.388+11T>A (n.388+11T>A)
n.579+11T>A
c.1462+11T>A (n.1462+11T>A)
c.2737+11T>A (n.2737+11T>A)
c.9637+11T>A (n.9637+11T>A)
c.19+11T>A (n.19+11T>A)
c.9634+11T>A (n.9634+11T>A)
c.9646+11T>A (n.9646+11T>A)
c.9625+11T>A (n.9625+11T>A)
c.9280+11T>A (n.9280+11T>A)
c.5626+11T>A (n.5626+11T>A)
c.9520+11T>A (n.9520+11T>A)
c.9511+11T>A (n.9511+11T>A)
c.9526+11T>A (n.9526+11T>A)
c.3823+11T>A (n.3823+11T>A)
 gnomAD v4
Xg.31206574C>ACA2535498194DMDc.4495+8G>T (n.4495+8G>T)
c.445+8G>T (n.445+8G>T)
n.447+8G>T
c.2269+8G>T (n.2269+8G>T)
n.1166+8G>T
n.748+8G>T
n.1167+8G>T
n.3141+8G>T
c.1504+8G>T (n.1504+8G>T)
c.9649+8G>T (n.9649+8G>T)
c.5617+8G>T (n.5617+8G>T)
c.322+8G>T (n.322+8G>T)
c.388+8G>T (n.388+8G>T)
n.579+8G>T
c.1462+8G>T (n.1462+8G>T)
c.2737+8G>T (n.2737+8G>T)
c.9637+8G>T (n.9637+8G>T)
c.19+8G>T (n.19+8G>T)
c.9634+8G>T (n.9634+8G>T)
c.9646+8G>T (n.9646+8G>T)
c.9625+8G>T (n.9625+8G>T)
c.9280+8G>T (n.9280+8G>T)
c.5626+8G>T (n.5626+8G>T)
c.9520+8G>T (n.9520+8G>T)
c.9511+8G>T (n.9511+8G>T)
c.9526+8G>T (n.9526+8G>T)
c.3823+8G>T (n.3823+8G>T)
Xg.31206574C=CA2422348444DMDc.4495+8G= (n.4495+8G=)
c.445+8G= (n.445+8G=)
n.447+8G=
c.2269+8G= (n.2269+8G=)
n.1166+8G=
n.748+8G=
n.1167+8G=
n.3141+8G=
c.1504+8G= (n.1504+8G=)
c.9649+8G= (n.9649+8G=)
c.5617+8G= (n.5617+8G=)
c.322+8G= (n.322+8G=)
c.388+8G= (n.388+8G=)
n.579+8G=
c.1462+8G= (n.1462+8G=)
c.2737+8G= (n.2737+8G=)
c.9637+8G= (n.9637+8G=)
c.19+8G= (n.19+8G=)
c.9634+8G= (n.9634+8G=)
c.9646+8G= (n.9646+8G=)
c.9625+8G= (n.9625+8G=)
c.9280+8G= (n.9280+8G=)
c.5626+8G= (n.5626+8G=)
c.9520+8G= (n.9520+8G=)
c.9511+8G= (n.9511+8G=)
c.9526+8G= (n.9526+8G=)
c.3823+8G= (n.3823+8G=)
Xg.31206574C>TCA10377768DMDc.4495+8G>A (n.4495+8G>A)
c.445+8G>A (n.445+8G>A)
n.447+8G>A
c.2269+8G>A (n.2269+8G>A)
n.1166+8G>A
n.748+8G>A
n.1167+8G>A
n.3141+8G>A
c.1504+8G>A (n.1504+8G>A)
c.9649+8G>A (n.9649+8G>A)
c.5617+8G>A (n.5617+8G>A)
c.322+8G>A (n.322+8G>A)
c.388+8G>A (n.388+8G>A)
n.579+8G>A
c.1462+8G>A (n.1462+8G>A)
c.2737+8G>A (n.2737+8G>A)
c.9637+8G>A (n.9637+8G>A)
c.19+8G>A (n.19+8G>A)
c.9634+8G>A (n.9634+8G>A)
c.9646+8G>A (n.9646+8G>A)
c.9625+8G>A (n.9625+8G>A)
c.9280+8G>A (n.9280+8G>A)
c.5626+8G>A (n.5626+8G>A)
c.9520+8G>A (n.9520+8G>A)
c.9511+8G>A (n.9511+8G>A)
c.9526+8G>A (n.9526+8G>A)
c.3823+8G>A (n.3823+8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31206575G>ACA515857018DMDc.4495+7C>T (n.4495+7C>T)
c.445+7C>T (n.445+7C>T)
n.447+7C>T
c.2269+7C>T (n.2269+7C>T)
n.1166+7C>T
n.748+7C>T
n.1167+7C>T
n.3141+7C>T
c.1504+7C>T (n.1504+7C>T)
c.9649+7C>T (n.9649+7C>T)
c.5617+7C>T (n.5617+7C>T)
c.322+7C>T (n.322+7C>T)
c.388+7C>T (n.388+7C>T)
n.579+7C>T
c.1462+7C>T (n.1462+7C>T)
c.2737+7C>T (n.2737+7C>T)
c.9637+7C>T (n.9637+7C>T)
c.19+7C>T (n.19+7C>T)
c.9634+7C>T (n.9634+7C>T)
c.9646+7C>T (n.9646+7C>T)
c.9625+7C>T (n.9625+7C>T)
c.9280+7C>T (n.9280+7C>T)
c.5626+7C>T (n.5626+7C>T)
c.9520+7C>T (n.9520+7C>T)
c.9511+7C>T (n.9511+7C>T)
c.9526+7C>T (n.9526+7C>T)
c.3823+7C>T (n.3823+7C>T)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.31206575G=CA2422348445DMDc.4495+7C= (n.4495+7C=)
c.445+7C= (n.445+7C=)
n.447+7C=
c.2269+7C= (n.2269+7C=)
n.1166+7C=
n.748+7C=
n.1167+7C=
n.3141+7C=
c.1504+7C= (n.1504+7C=)
c.9649+7C= (n.9649+7C=)
c.5617+7C= (n.5617+7C=)
c.322+7C= (n.322+7C=)
c.388+7C= (n.388+7C=)
n.579+7C=
c.1462+7C= (n.1462+7C=)
c.2737+7C= (n.2737+7C=)
c.9637+7C= (n.9637+7C=)
c.19+7C= (n.19+7C=)
c.9634+7C= (n.9634+7C=)
c.9646+7C= (n.9646+7C=)
c.9625+7C= (n.9625+7C=)
c.9280+7C= (n.9280+7C=)
c.5626+7C= (n.5626+7C=)
c.9520+7C= (n.9520+7C=)
c.9511+7C= (n.9511+7C=)
c.9526+7C= (n.9526+7C=)
c.3823+7C= (n.3823+7C=)
Xg.31206575G>TCA2693386982DMDc.4495+7C>A (n.4495+7C>A)
c.445+7C>A (n.445+7C>A)
n.447+7C>A
c.2269+7C>A (n.2269+7C>A)
n.1166+7C>A
n.748+7C>A
n.1167+7C>A
n.3141+7C>A
c.1504+7C>A (n.1504+7C>A)
c.9649+7C>A (n.9649+7C>A)
c.5617+7C>A (n.5617+7C>A)
c.322+7C>A (n.322+7C>A)
c.388+7C>A (n.388+7C>A)
n.579+7C>A
c.1462+7C>A (n.1462+7C>A)
c.2737+7C>A (n.2737+7C>A)
c.9637+7C>A (n.9637+7C>A)
c.19+7C>A (n.19+7C>A)
c.9634+7C>A (n.9634+7C>A)
c.9646+7C>A (n.9646+7C>A)
c.9625+7C>A (n.9625+7C>A)
c.9280+7C>A (n.9280+7C>A)
c.5626+7C>A (n.5626+7C>A)
c.9520+7C>A (n.9520+7C>A)
c.9511+7C>A (n.9511+7C>A)
c.9526+7C>A (n.9526+7C>A)
c.3823+7C>A (n.3823+7C>A)
 gnomAD v4
Xg.31206576A>GCA2693386983DMDc.4495+6T>C (n.4495+6T>C)
c.445+6T>C (n.445+6T>C)
n.447+6T>C
c.2269+6T>C (n.2269+6T>C)
n.1166+6T>C
n.748+6T>C
n.1167+6T>C
n.3141+6T>C
c.1504+6T>C (n.1504+6T>C)
c.9649+6T>C (n.9649+6T>C)
c.5617+6T>C (n.5617+6T>C)
c.322+6T>C (n.322+6T>C)
c.388+6T>C (n.388+6T>C)
n.579+6T>C
c.1462+6T>C (n.1462+6T>C)
c.2737+6T>C (n.2737+6T>C)
c.9637+6T>C (n.9637+6T>C)
c.19+6T>C (n.19+6T>C)
c.9634+6T>C (n.9634+6T>C)
c.9646+6T>C (n.9646+6T>C)
c.9625+6T>C (n.9625+6T>C)
c.9280+6T>C (n.9280+6T>C)
c.5626+6T>C (n.5626+6T>C)
c.9520+6T>C (n.9520+6T>C)
c.9511+6T>C (n.9511+6T>C)
c.9526+6T>C (n.9526+6T>C)
c.3823+6T>C (n.3823+6T>C)
 gnomAD v4
Xg.31206577C>ACA2695232297DMDc.4495+5G>T (n.4495+5G>T)
c.445+5G>T (n.445+5G>T)
n.447+5G>T
c.2269+5G>T (n.2269+5G>T)
n.1166+5G>T
n.748+5G>T
n.1167+5G>T
n.3141+5G>T
c.1504+5G>T (n.1504+5G>T)
c.9649+5G>T (n.9649+5G>T)
c.5617+5G>T (n.5617+5G>T)
c.322+5G>T (n.322+5G>T)
c.388+5G>T (n.388+5G>T)
n.579+5G>T
c.1462+5G>T (n.1462+5G>T)
c.2737+5G>T (n.2737+5G>T)
c.9637+5G>T (n.9637+5G>T)
c.19+5G>T (n.19+5G>T)
c.9634+5G>T (n.9634+5G>T)
c.9646+5G>T (n.9646+5G>T)
c.9625+5G>T (n.9625+5G>T)
c.9280+5G>T (n.9280+5G>T)
c.5626+5G>T (n.5626+5G>T)
c.9520+5G>T (n.9520+5G>T)
c.9511+5G>T (n.9511+5G>T)
c.9526+5G>T (n.9526+5G>T)
c.3823+5G>T (n.3823+5G>T)
Xg.31206577C=CA2422348446DMDc.4495+5G= (n.4495+5G=)
c.445+5G= (n.445+5G=)
n.447+5G=
c.2269+5G= (n.2269+5G=)
n.1166+5G=
n.748+5G=
n.1167+5G=
n.3141+5G=
c.1504+5G= (n.1504+5G=)
c.9649+5G= (n.9649+5G=)
c.5617+5G= (n.5617+5G=)
c.322+5G= (n.322+5G=)
c.388+5G= (n.388+5G=)
n.579+5G=
c.1462+5G= (n.1462+5G=)
c.2737+5G= (n.2737+5G=)
c.9637+5G= (n.9637+5G=)
c.19+5G= (n.19+5G=)
c.9634+5G= (n.9634+5G=)
c.9646+5G= (n.9646+5G=)
c.9625+5G= (n.9625+5G=)
c.9280+5G= (n.9280+5G=)
c.5626+5G= (n.5626+5G=)
c.9520+5G= (n.9520+5G=)
c.9511+5G= (n.9511+5G=)
c.9526+5G= (n.9526+5G=)
c.3823+5G= (n.3823+5G=)
Xg.31206577C>GCA915950870DMDc.4495+5G>C (n.4495+5G>C)
c.445+5G>C (n.445+5G>C)
n.447+5G>C
c.2269+5G>C (n.2269+5G>C)
n.1166+5G>C
n.748+5G>C
n.1167+5G>C
n.3141+5G>C
c.1504+5G>C (n.1504+5G>C)
c.9649+5G>C (n.9649+5G>C)
c.5617+5G>C (n.5617+5G>C)
c.322+5G>C (n.322+5G>C)
c.388+5G>C (n.388+5G>C)
n.579+5G>C
c.1462+5G>C (n.1462+5G>C)
c.2737+5G>C (n.2737+5G>C)
c.9637+5G>C (n.9637+5G>C)
c.19+5G>C (n.19+5G>C)
c.9634+5G>C (n.9634+5G>C)
c.9646+5G>C (n.9646+5G>C)
c.9625+5G>C (n.9625+5G>C)
c.9280+5G>C (n.9280+5G>C)
c.5626+5G>C (n.5626+5G>C)
c.9520+5G>C (n.9520+5G>C)
c.9511+5G>C (n.9511+5G>C)
c.9526+5G>C (n.9526+5G>C)
c.3823+5G>C (n.3823+5G>C)
 ClinVar dbSNP
Xg.31206577C>TCA2580100563DMDc.4495+5G>A (n.4495+5G>A)
c.445+5G>A (n.445+5G>A)
n.447+5G>A
c.2269+5G>A (n.2269+5G>A)
n.1166+5G>A
n.748+5G>A
n.1167+5G>A
n.3141+5G>A
c.1504+5G>A (n.1504+5G>A)
c.9649+5G>A (n.9649+5G>A)
c.5617+5G>A (n.5617+5G>A)
c.322+5G>A (n.322+5G>A)
c.388+5G>A (n.388+5G>A)
n.579+5G>A
c.1462+5G>A (n.1462+5G>A)
c.2737+5G>A (n.2737+5G>A)
c.9637+5G>A (n.9637+5G>A)
c.19+5G>A (n.19+5G>A)
c.9634+5G>A (n.9634+5G>A)
c.9646+5G>A (n.9646+5G>A)
c.9625+5G>A (n.9625+5G>A)
c.9280+5G>A (n.9280+5G>A)
c.5626+5G>A (n.5626+5G>A)
c.9520+5G>A (n.9520+5G>A)
c.9511+5G>A (n.9511+5G>A)
c.9526+5G>A (n.9526+5G>A)
c.3823+5G>A (n.3823+5G>A)
 ClinVar
Xg.31206578T>ACA2695232300DMDc.4495+4A>T (n.4495+4A>T)
c.445+4A>T (n.445+4A>T)
n.447+4A>T
c.2269+4A>T (n.2269+4A>T)
n.1166+4A>T
n.748+4A>T
n.1167+4A>T
n.3141+4A>T
c.1504+4A>T (n.1504+4A>T)
c.9649+4A>T (n.9649+4A>T)
c.5617+4A>T (n.5617+4A>T)
c.322+4A>T (n.322+4A>T)
c.388+4A>T (n.388+4A>T)
n.579+4A>T
c.1462+4A>T (n.1462+4A>T)
c.2737+4A>T (n.2737+4A>T)
c.9637+4A>T (n.9637+4A>T)
c.19+4A>T (n.19+4A>T)
c.9634+4A>T (n.9634+4A>T)
c.9646+4A>T (n.9646+4A>T)
c.9625+4A>T (n.9625+4A>T)
c.9280+4A>T (n.9280+4A>T)
c.5626+4A>T (n.5626+4A>T)
c.9520+4A>T (n.9520+4A>T)
c.9511+4A>T (n.9511+4A>T)
c.9526+4A>T (n.9526+4A>T)
c.3823+4A>T (n.3823+4A>T)
Xg.31206579delCA2693386984DMDc.4495+4del (n.4495+4del)
c.445+4del (n.445+4del)
n.447+4del
c.2269+4del (n.2269+4del)
n.1166+4del
n.748+4del
n.1167+4del
n.3141+4del
c.1504+4del (n.1504+4del)
c.9649+4del (n.9649+4del)
c.5617+4del (n.5617+4del)
c.322+4del (n.322+4del)
c.388+4del (n.388+4del)
n.579+4del
c.1462+4del (n.1462+4del)
c.2737+4del (n.2737+4del)
c.9637+4del (n.9637+4del)
c.19+4del (n.19+4del)
c.9634+4del (n.9634+4del)
c.9646+4del (n.9646+4del)
c.9625+4del (n.9625+4del)
c.9280+4del (n.9280+4del)
c.5626+4del (n.5626+4del)
c.9520+4del (n.9520+4del)
c.9511+4del (n.9511+4del)
c.9526+4del (n.9526+4del)
c.3823+4del (n.3823+4del)
 gnomAD v4
Xg.31206579T>CCA2516880414DMDc.4495+3A>G (n.4495+3A>G)
c.445+3A>G (n.445+3A>G)
n.447+3A>G
c.2269+3A>G (n.2269+3A>G)
n.1166+3A>G
n.748+3A>G
n.1167+3A>G
n.3141+3A>G
c.1504+3A>G (n.1504+3A>G)
c.9649+3A>G (n.9649+3A>G)
c.5617+3A>G (n.5617+3A>G)
c.322+3A>G (n.322+3A>G)
c.388+3A>G (n.388+3A>G)
n.579+3A>G
c.1462+3A>G (n.1462+3A>G)
c.2737+3A>G (n.2737+3A>G)
c.9637+3A>G (n.9637+3A>G)
c.19+3A>G (n.19+3A>G)
c.9634+3A>G (n.9634+3A>G)
c.9646+3A>G (n.9646+3A>G)
c.9625+3A>G (n.9625+3A>G)
c.9280+3A>G (n.9280+3A>G)
c.5626+3A>G (n.5626+3A>G)
c.9520+3A>G (n.9520+3A>G)
c.9511+3A>G (n.9511+3A>G)
c.9526+3A>G (n.9526+3A>G)
c.3823+3A>G (n.3823+3A>G)
Xg.31206579T>GCA2695232301DMDc.4495+3A>C (n.4495+3A>C)
c.445+3A>C (n.445+3A>C)
n.447+3A>C
c.2269+3A>C (n.2269+3A>C)
n.1166+3A>C
n.748+3A>C
n.1167+3A>C
n.3141+3A>C
c.1504+3A>C (n.1504+3A>C)
c.9649+3A>C (n.9649+3A>C)
c.5617+3A>C (n.5617+3A>C)
c.322+3A>C (n.322+3A>C)
c.388+3A>C (n.388+3A>C)
n.579+3A>C
c.1462+3A>C (n.1462+3A>C)
c.2737+3A>C (n.2737+3A>C)
c.9637+3A>C (n.9637+3A>C)
c.19+3A>C (n.19+3A>C)
c.9634+3A>C (n.9634+3A>C)
c.9646+3A>C (n.9646+3A>C)
c.9625+3A>C (n.9625+3A>C)
c.9280+3A>C (n.9280+3A>C)
c.5626+3A>C (n.5626+3A>C)
c.9520+3A>C (n.9520+3A>C)
c.9511+3A>C (n.9511+3A>C)
c.9526+3A>C (n.9526+3A>C)
c.3823+3A>C (n.3823+3A>C)
Xg.31206579T=CA2422348447DMDc.4495+3A= (n.4495+3A=)
c.445+3A= (n.445+3A=)
n.447+3A=
c.2269+3A= (n.2269+3A=)
n.1166+3A=
n.748+3A=
n.1167+3A=
n.3141+3A=
c.1504+3A= (n.1504+3A=)
c.9649+3A= (n.9649+3A=)
c.5617+3A= (n.5617+3A=)
c.322+3A= (n.322+3A=)
c.388+3A= (n.388+3A=)
n.579+3A=
c.1462+3A= (n.1462+3A=)
c.2737+3A= (n.2737+3A=)
c.9637+3A= (n.9637+3A=)
c.19+3A= (n.19+3A=)
c.9634+3A= (n.9634+3A=)
c.9646+3A= (n.9646+3A=)
c.9625+3A= (n.9625+3A=)
c.9280+3A= (n.9280+3A=)
c.5626+3A= (n.5626+3A=)
c.9520+3A= (n.9520+3A=)
c.9511+3A= (n.9511+3A=)
c.9526+3A= (n.9526+3A=)
c.3823+3A= (n.3823+3A=)
Xg.31206580A>CCA412649334DMDc.4495+2T>G (n.4495+2T>G)
c.445+2T>G (n.445+2T>G)
n.447+2T>G
c.2269+2T>G (n.2269+2T>G)
n.1166+2T>G
n.748+2T>G
n.1167+2T>G
n.3141+2T>G
c.1504+2T>G (n.1504+2T>G)
c.9649+2T>G (n.9649+2T>G)
c.5617+2T>G (n.5617+2T>G)
c.322+2T>G (n.322+2T>G)
c.388+2T>G (n.388+2T>G)
n.579+2T>G
c.1462+2T>G (n.1462+2T>G)
c.2737+2T>G (n.2737+2T>G)
c.9637+2T>G (n.9637+2T>G)
c.19+2T>G (n.19+2T>G)
c.9634+2T>G (n.9634+2T>G)
c.9646+2T>G (n.9646+2T>G)
c.9625+2T>G (n.9625+2T>G)
c.9280+2T>G (n.9280+2T>G)
c.5626+2T>G (n.5626+2T>G)
c.9520+2T>G (n.9520+2T>G)
c.9511+2T>G (n.9511+2T>G)
c.9526+2T>G (n.9526+2T>G)
c.3823+2T>G (n.3823+2T>G)
Xg.31206580A>GCA412649335DMDc.4495+2T>C (n.4495+2T>C)
c.445+2T>C (n.445+2T>C)
n.447+2T>C
c.2269+2T>C (n.2269+2T>C)
n.1166+2T>C
n.748+2T>C
n.1167+2T>C
n.3141+2T>C
c.1504+2T>C (n.1504+2T>C)
c.9649+2T>C (n.9649+2T>C)
c.5617+2T>C (n.5617+2T>C)
c.322+2T>C (n.322+2T>C)
c.388+2T>C (n.388+2T>C)
n.579+2T>C
c.1462+2T>C (n.1462+2T>C)
c.2737+2T>C (n.2737+2T>C)
c.9637+2T>C (n.9637+2T>C)
c.19+2T>C (n.19+2T>C)
c.9634+2T>C (n.9634+2T>C)
c.9646+2T>C (n.9646+2T>C)
c.9625+2T>C (n.9625+2T>C)
c.9280+2T>C (n.9280+2T>C)
c.5626+2T>C (n.5626+2T>C)
c.9520+2T>C (n.9520+2T>C)
c.9511+2T>C (n.9511+2T>C)
c.9526+2T>C (n.9526+2T>C)
c.3823+2T>C (n.3823+2T>C)
Xg.31206580A>TCA412649337DMDc.4495+2T>A (n.4495+2T>A)
c.445+2T>A (n.445+2T>A)
n.447+2T>A
c.2269+2T>A (n.2269+2T>A)
n.1166+2T>A
n.748+2T>A
n.1167+2T>A
n.3141+2T>A
c.1504+2T>A (n.1504+2T>A)
c.9649+2T>A (n.9649+2T>A)
c.5617+2T>A (n.5617+2T>A)
c.322+2T>A (n.322+2T>A)
c.388+2T>A (n.388+2T>A)
n.579+2T>A
c.1462+2T>A (n.1462+2T>A)
c.2737+2T>A (n.2737+2T>A)
c.9637+2T>A (n.9637+2T>A)
c.19+2T>A (n.19+2T>A)
c.9634+2T>A (n.9634+2T>A)
c.9646+2T>A (n.9646+2T>A)
c.9625+2T>A (n.9625+2T>A)
c.9280+2T>A (n.9280+2T>A)
c.5626+2T>A (n.5626+2T>A)
c.9520+2T>A (n.9520+2T>A)
c.9511+2T>A (n.9511+2T>A)
c.9526+2T>A (n.9526+2T>A)
c.3823+2T>A (n.3823+2T>A)
 gnomAD v4
Xg.31206580dupCA915950871DMDc.4495+2dup (n.4495+2dup)
c.445+2dup (n.445+2dup)
n.447+2dup
c.2269+2dup (n.2269+2dup)
n.1166+2dup
n.748+2dup
n.1167+2dup
n.3141+2dup
c.1504+2dup (n.1504+2dup)
c.9649+2dup (n.9649+2dup)
c.5617+2dup (n.5617+2dup)
c.322+2dup (n.322+2dup)
c.388+2dup (n.388+2dup)
n.579+2dup
c.1462+2dup (n.1462+2dup)
c.2737+2dup (n.2737+2dup)
c.9637+2dup (n.9637+2dup)
c.19+2dup (n.19+2dup)
c.9634+2dup (n.9634+2dup)
c.9646+2dup (n.9646+2dup)
c.9625+2dup (n.9625+2dup)
c.9280+2dup (n.9280+2dup)
c.5626+2dup (n.5626+2dup)
c.9520+2dup (n.9520+2dup)
c.9511+2dup (n.9511+2dup)
c.9526+2dup (n.9526+2dup)
c.3823+2dup (n.3823+2dup)
 ClinVar dbSNP
Xg.31206581C>ACA412649339DMDc.4495+1G>T (n.4495+1G>T)
c.445+1G>T (n.445+1G>T)
n.447+1G>T
c.2269+1G>T (n.2269+1G>T)
n.1166+1G>T
n.748+1G>T
n.1167+1G>T
n.3141+1G>T
c.1504+1G>T (n.1504+1G>T)
c.9649+1G>T (n.9649+1G>T)
c.5617+1G>T (n.5617+1G>T)
c.322+1G>T (n.322+1G>T)
c.388+1G>T (n.388+1G>T)
n.579+1G>T
c.1462+1G>T (n.1462+1G>T)
c.2737+1G>T (n.2737+1G>T)
c.9637+1G>T (n.9637+1G>T)
c.19+1G>T (n.19+1G>T)
c.9634+1G>T (n.9634+1G>T)
c.9646+1G>T (n.9646+1G>T)
c.9625+1G>T (n.9625+1G>T)
c.9280+1G>T (n.9280+1G>T)
c.5626+1G>T (n.5626+1G>T)
c.9520+1G>T (n.9520+1G>T)
c.9511+1G>T (n.9511+1G>T)
c.9526+1G>T (n.9526+1G>T)
c.3823+1G>T (n.3823+1G>T)
Xg.31206581C=CA2422348448DMDc.4495+1G= (n.4495+1G=)
c.445+1G= (n.445+1G=)
n.447+1G=
c.2269+1G= (n.2269+1G=)
n.1166+1G=
n.748+1G=
n.1167+1G=
n.3141+1G=
c.1504+1G= (n.1504+1G=)
c.9649+1G= (n.9649+1G=)
c.5617+1G= (n.5617+1G=)
c.322+1G= (n.322+1G=)
c.388+1G= (n.388+1G=)
n.579+1G=
c.1462+1G= (n.1462+1G=)
c.2737+1G= (n.2737+1G=)
c.9637+1G= (n.9637+1G=)
c.19+1G= (n.19+1G=)
c.9634+1G= (n.9634+1G=)
c.9646+1G= (n.9646+1G=)
c.9625+1G= (n.9625+1G=)
c.9280+1G= (n.9280+1G=)
c.5626+1G= (n.5626+1G=)
c.9520+1G= (n.9520+1G=)
c.9511+1G= (n.9511+1G=)
c.9526+1G= (n.9526+1G=)
c.3823+1G= (n.3823+1G=)
Xg.31206581C>GCA412649341DMDc.4495+1G>C (n.4495+1G>C)
c.445+1G>C (n.445+1G>C)
n.447+1G>C
c.2269+1G>C (n.2269+1G>C)
n.1166+1G>C
n.748+1G>C
n.1167+1G>C
n.3141+1G>C
c.1504+1G>C (n.1504+1G>C)
c.9649+1G>C (n.9649+1G>C)
c.5617+1G>C (n.5617+1G>C)
c.322+1G>C (n.322+1G>C)
c.388+1G>C (n.388+1G>C)
n.579+1G>C
c.1462+1G>C (n.1462+1G>C)
c.2737+1G>C (n.2737+1G>C)
c.9637+1G>C (n.9637+1G>C)
c.19+1G>C (n.19+1G>C)
c.9634+1G>C (n.9634+1G>C)
c.9646+1G>C (n.9646+1G>C)
c.9625+1G>C (n.9625+1G>C)
c.9280+1G>C (n.9280+1G>C)
c.5626+1G>C (n.5626+1G>C)
c.9520+1G>C (n.9520+1G>C)
c.9511+1G>C (n.9511+1G>C)
c.9526+1G>C (n.9526+1G>C)
c.3823+1G>C (n.3823+1G>C)
Xg.31206581C>TCA412649342DMDc.4495+1G>A (n.4495+1G>A)
c.445+1G>A (n.445+1G>A)
n.447+1G>A
c.2269+1G>A (n.2269+1G>A)
n.1166+1G>A
n.748+1G>A
n.1167+1G>A
n.3141+1G>A
c.1504+1G>A (n.1504+1G>A)
c.9649+1G>A (n.9649+1G>A)
c.5617+1G>A (n.5617+1G>A)
c.322+1G>A (n.322+1G>A)
c.388+1G>A (n.388+1G>A)
n.579+1G>A
c.1462+1G>A (n.1462+1G>A)
c.2737+1G>A (n.2737+1G>A)
c.9637+1G>A (n.9637+1G>A)
c.19+1G>A (n.19+1G>A)
c.9634+1G>A (n.9634+1G>A)
c.9646+1G>A (n.9646+1G>A)
c.9625+1G>A (n.9625+1G>A)
c.9280+1G>A (n.9280+1G>A)
c.5626+1G>A (n.5626+1G>A)
c.9520+1G>A (n.9520+1G>A)
c.9511+1G>A (n.9511+1G>A)
c.9526+1G>A (n.9526+1G>A)
c.3823+1G>A (n.3823+1G>A)
 ClinVar dbSNP gnomAD v4
Xg.31206582A=CA2422348449DMDc.4495T= (p.Tyr1499=)
c.445T= (p.Tyr149=)
n.447T=
c.2269T= (p.Tyr757=)
n.1166T=
n.748T=
n.1167T=
n.3141T=
c.1504T= (p.Tyr502=)
c.9649T= (p.Tyr3217=)
c.5617T= (p.Tyr1873=)
c.322T= (p.Tyr108=)
c.388T= (p.Tyr130=)
n.579T=
c.1462T= (p.Tyr488=)
c.2737T= (p.Tyr913=)
c.9637T= (p.Tyr3213=)
c.19T= (p.Tyr7=)
c.9634T= (p.Tyr3212=)
c.9646T= (p.Tyr3216=)
c.9625T= (p.Tyr3209=)
c.9280T= (p.Tyr3094=)
c.5626T= (p.Tyr1876=)
c.9520T= (p.Tyr3174=)
c.9511T= (p.Tyr3171=)
c.9526T= (p.Tyr3176=)
c.3823T= (p.Tyr1275=)
Xg.31206582A>CCA412649346DMDc.4495T>G (p.Tyr1499Asp)
c.445T>G (p.Tyr149Asp)
n.447T>G
c.2269T>G (p.Tyr757Asp)
n.1166T>G
n.748T>G
n.1167T>G
n.3141T>G
c.1504T>G (p.Tyr502Asp)
c.9649T>G (p.Tyr3217Asp)
c.5617T>G (p.Tyr1873Asp)
c.322T>G (p.Tyr108Asp)
c.388T>G (p.Tyr130Asp)
n.579T>G
c.1462T>G (p.Tyr488Asp)
c.2737T>G (p.Tyr913Asp)
c.9637T>G (p.Tyr3213Asp)
c.19T>G (p.Tyr7Asp)
c.9634T>G (p.Tyr3212Asp)
c.9646T>G (p.Tyr3216Asp)
c.9625T>G (p.Tyr3209Asp)
c.9280T>G (p.Tyr3094Asp)
c.5626T>G (p.Tyr1876Asp)
c.9520T>G (p.Tyr3174Asp)
c.9511T>G (p.Tyr3171Asp)
c.9526T>G (p.Tyr3176Asp)
c.3823T>G (p.Tyr1275Asp)
Xg.31206582A>GCA10377769DMDc.4495T>C (p.Tyr1499His)
c.445T>C (p.Tyr149His)
n.447T>C
c.2269T>C (p.Tyr757His)
n.1166T>C
n.748T>C
n.1167T>C
n.3141T>C
c.1504T>C (p.Tyr502His)
c.9649T>C (p.Tyr3217His)
c.5617T>C (p.Tyr1873His)
c.322T>C (p.Tyr108His)
c.388T>C (p.Tyr130His)
n.579T>C
c.1462T>C (p.Tyr488His)
c.2737T>C (p.Tyr913His)
c.9637T>C (p.Tyr3213His)
c.19T>C (p.Tyr7His)
c.9634T>C (p.Tyr3212His)
c.9646T>C (p.Tyr3216His)
c.9625T>C (p.Tyr3209His)
c.9280T>C (p.Tyr3094His)
c.5626T>C (p.Tyr1876His)
c.9520T>C (p.Tyr3174His)
c.9511T>C (p.Tyr3171His)
c.9526T>C (p.Tyr3176His)
c.3823T>C (p.Tyr1275His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31206582A>TCA412649344DMDc.4495T>A (p.Tyr1499Asn)
c.445T>A (p.Tyr149Asn)
n.447T>A
c.2269T>A (p.Tyr757Asn)
n.1166T>A
n.748T>A
n.1167T>A
n.3141T>A
c.1504T>A (p.Tyr502Asn)
c.9649T>A (p.Tyr3217Asn)
c.5617T>A (p.Tyr1873Asn)
c.322T>A (p.Tyr108Asn)
c.388T>A (p.Tyr130Asn)
n.579T>A
c.1462T>A (p.Tyr488Asn)
c.2737T>A (p.Tyr913Asn)
c.9637T>A (p.Tyr3213Asn)
c.19T>A (p.Tyr7Asn)
c.9634T>A (p.Tyr3212Asn)
c.9646T>A (p.Tyr3216Asn)
c.9625T>A (p.Tyr3209Asn)
c.9280T>A (p.Tyr3094Asn)
c.5626T>A (p.Tyr1876Asn)
c.9520T>A (p.Tyr3174Asn)
c.9511T>A (p.Tyr3171Asn)
c.9526T>A (p.Tyr3176Asn)
c.3823T>A (p.Tyr1275Asn)
Xg.31206583T>ACA412649348DMDc.4494A>T (p.Arg1498Ser)
c.444A>T (p.Arg148Ser)
n.446A>T
c.2268A>T (p.Arg756Ser)
n.1165A>T
n.747A>T
n.1166A>T
n.3140A>T
c.1503A>T (p.Arg501Ser)
c.9648A>T (p.Arg3216Ser)
c.5616A>T (p.Arg1872Ser)
c.321A>T (p.Arg107Ser)
c.387A>T (p.Arg129Ser)
n.578A>T
c.1461A>T (p.Arg487Ser)
c.2736A>T (p.Arg912Ser)
c.9636A>T (p.Arg3212Ser)
c.18A>T (p.Arg6Ser)
c.9633A>T (p.Arg3211Ser)
c.9645A>T (p.Arg3215Ser)
c.9624A>T (p.Arg3208Ser)
c.9279A>T (p.Arg3093Ser)
c.5625A>T (p.Arg1875Ser)
c.9519A>T (p.Arg3173Ser)
c.9510A>T (p.Arg3170Ser)
c.9525A>T (p.Arg3175Ser)
c.3822A>T (p.Arg1274Ser)
Xg.31206583T>CCA515857021DMDc.4494A>G (p.Arg1498=)
c.444A>G (p.Arg148=)
n.446A>G
c.2268A>G (p.Arg756=)
n.1165A>G
n.747A>G
n.1166A>G
n.3140A>G
c.1503A>G (p.Arg501=)
c.9648A>G (p.Arg3216=)
c.5616A>G (p.Arg1872=)
c.321A>G (p.Arg107=)
c.387A>G (p.Arg129=)
n.578A>G
c.1461A>G (p.Arg487=)
c.2736A>G (p.Arg912=)
c.9636A>G (p.Arg3212=)
c.18A>G (p.Arg6=)
c.9633A>G (p.Arg3211=)
c.9645A>G (p.Arg3215=)
c.9624A>G (p.Arg3208=)
c.9279A>G (p.Arg3093=)
c.5625A>G (p.Arg1875=)
c.9519A>G (p.Arg3173=)
c.9510A>G (p.Arg3170=)
c.9525A>G (p.Arg3175=)
c.3822A>G (p.Arg1274=)
Xg.31206583T>GCA412649349DMDc.4494A>C (p.Arg1498Ser)
c.444A>C (p.Arg148Ser)
n.446A>C
c.2268A>C (p.Arg756Ser)
n.1165A>C
n.747A>C
n.1166A>C
n.3140A>C
c.1503A>C (p.Arg501Ser)
c.9648A>C (p.Arg3216Ser)
c.5616A>C (p.Arg1872Ser)
c.321A>C (p.Arg107Ser)
c.387A>C (p.Arg129Ser)
n.578A>C
c.1461A>C (p.Arg487Ser)
c.2736A>C (p.Arg912Ser)
c.9636A>C (p.Arg3212Ser)
c.18A>C (p.Arg6Ser)
c.9633A>C (p.Arg3211Ser)
c.9645A>C (p.Arg3215Ser)
c.9624A>C (p.Arg3208Ser)
c.9279A>C (p.Arg3093Ser)
c.5625A>C (p.Arg1875Ser)
c.9519A>C (p.Arg3173Ser)
c.9510A>C (p.Arg3170Ser)
c.9525A>C (p.Arg3175Ser)
c.3822A>C (p.Arg1274Ser)
Xg.31206584_31206585delCA2573158732DMDc.4493_4494del (p.Arg1498IlefsTer14)
c.443_444del (p.Arg148IlefsTer14)
n.445_446del
c.2267_2268del (p.Arg756IlefsTer14)
n.1164_1165del
n.746_747del
n.1165_1166del
n.3139_3140del
c.1502_1503del (p.Arg501IlefsTer14)
c.9647_9648del (p.Arg3216IlefsTer14)
c.5615_5616del (p.Arg1872IlefsTer14)
c.320_321del (p.Arg107IlefsTer14)
c.386_387del (p.Arg129IlefsTer14)
n.577_578del
c.1460_1461del (p.Arg487IlefsTer14)
c.2735_2736del (p.Arg912IlefsTer14)
c.9635_9636del (p.Arg3212IlefsTer14)
c.17_18del (p.Arg6IlefsTer14)
c.9632_9633del (p.Arg3211IlefsTer14)
c.9644_9645del (p.Arg3215IlefsTer14)
c.9623_9624del (p.Arg3208IlefsTer14)
c.9278_9279del (p.Arg3093IlefsTer14)
c.5624_5625del (p.Arg1875IlefsTer14)
c.9518_9519del (p.Arg3173IlefsTer14)
c.9509_9510del (p.Arg3170IlefsTer14)
c.9524_9525del (p.Arg3175IlefsTer14)
c.3821_3822del (p.Arg1274IlefsTer14)
 ClinVar dbSNP
Xg.31206584C>ACA412649351DMDc.4493G>T (p.Arg1498Ile)
c.443G>T (p.Arg148Ile)
n.445G>T
c.2267G>T (p.Arg756Ile)
n.1164G>T
n.746G>T
n.1165G>T
n.3139G>T
c.1502G>T (p.Arg501Ile)
c.9647G>T (p.Arg3216Ile)
c.5615G>T (p.Arg1872Ile)
c.320G>T (p.Arg107Ile)
c.386G>T (p.Arg129Ile)
n.577G>T
c.1460G>T (p.Arg487Ile)
c.2735G>T (p.Arg912Ile)
c.9635G>T (p.Arg3212Ile)
c.17G>T (p.Arg6Ile)
c.9632G>T (p.Arg3211Ile)
c.9644G>T (p.Arg3215Ile)
c.9623G>T (p.Arg3208Ile)
c.9278G>T (p.Arg3093Ile)
c.5624G>T (p.Arg1875Ile)
c.9518G>T (p.Arg3173Ile)
c.9509G>T (p.Arg3170Ile)
c.9524G>T (p.Arg3175Ile)
c.3821G>T (p.Arg1274Ile)
Xg.31206584C>GCA412649353DMDc.4493G>C (p.Arg1498Thr)
c.443G>C (p.Arg148Thr)
n.445G>C
c.2267G>C (p.Arg756Thr)
n.1164G>C
n.746G>C
n.1165G>C
n.3139G>C
c.1502G>C (p.Arg501Thr)
c.9647G>C (p.Arg3216Thr)
c.5615G>C (p.Arg1872Thr)
c.320G>C (p.Arg107Thr)
c.386G>C (p.Arg129Thr)
n.577G>C
c.1460G>C (p.Arg487Thr)
c.2735G>C (p.Arg912Thr)
c.9635G>C (p.Arg3212Thr)
c.17G>C (p.Arg6Thr)
c.9632G>C (p.Arg3211Thr)
c.9644G>C (p.Arg3215Thr)
c.9623G>C (p.Arg3208Thr)
c.9278G>C (p.Arg3093Thr)
c.5624G>C (p.Arg1875Thr)
c.9518G>C (p.Arg3173Thr)
c.9509G>C (p.Arg3170Thr)
c.9524G>C (p.Arg3175Thr)
c.3821G>C (p.Arg1274Thr)
Xg.31206584C>TCA412649354DMDc.4493G>A (p.Arg1498Lys)
c.443G>A (p.Arg148Lys)
n.445G>A
c.2267G>A (p.Arg756Lys)
n.1164G>A
n.746G>A
n.1165G>A
n.3139G>A
c.1502G>A (p.Arg501Lys)
c.9647G>A (p.Arg3216Lys)
c.5615G>A (p.Arg1872Lys)
c.320G>A (p.Arg107Lys)
c.386G>A (p.Arg129Lys)
n.577G>A
c.1460G>A (p.Arg487Lys)
c.2735G>A (p.Arg912Lys)
c.9635G>A (p.Arg3212Lys)
c.17G>A (p.Arg6Lys)
c.9632G>A (p.Arg3211Lys)
c.9644G>A (p.Arg3215Lys)
c.9623G>A (p.Arg3208Lys)
c.9278G>A (p.Arg3093Lys)
c.5624G>A (p.Arg1875Lys)
c.9518G>A (p.Arg3173Lys)
c.9509G>A (p.Arg3170Lys)
c.9524G>A (p.Arg3175Lys)
c.3821G>A (p.Arg1274Lys)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31206585T>ACA412649355DMDc.4492A>T (p.Arg1498Ter)
c.442A>T (p.Arg148Ter)
n.444A>T
c.2266A>T (p.Arg756Ter)
n.1163A>T
n.745A>T
n.1164A>T
n.3138A>T
c.1501A>T (p.Arg501Ter)
c.9646A>T (p.Arg3216Ter)
c.5614A>T (p.Arg1872Ter)
c.319A>T (p.Arg107Ter)
c.385A>T (p.Arg129Ter)
n.576A>T
c.1459A>T (p.Arg487Ter)
c.2734A>T (p.Arg912Ter)
c.9634A>T (p.Arg3212Ter)
c.16A>T (p.Arg6Ter)
c.9631A>T (p.Arg3211Ter)
c.9643A>T (p.Arg3215Ter)
c.9622A>T (p.Arg3208Ter)
c.9277A>T (p.Arg3093Ter)
c.5623A>T (p.Arg1875Ter)
c.9517A>T (p.Arg3173Ter)
c.9508A>T (p.Arg3170Ter)
c.9523A>T (p.Arg3175Ter)
c.3820A>T (p.Arg1274Ter)
Xg.31206585T>CCA412649356DMDc.4492A>G (p.Arg1498Gly)
c.442A>G (p.Arg148Gly)
n.444A>G
c.2266A>G (p.Arg756Gly)
n.1163A>G
n.745A>G
n.1164A>G
n.3138A>G
c.1501A>G (p.Arg501Gly)
c.9646A>G (p.Arg3216Gly)
c.5614A>G (p.Arg1872Gly)
c.319A>G (p.Arg107Gly)
c.385A>G (p.Arg129Gly)
n.576A>G
c.1459A>G (p.Arg487Gly)
c.2734A>G (p.Arg912Gly)
c.9634A>G (p.Arg3212Gly)
c.16A>G (p.Arg6Gly)
c.9631A>G (p.Arg3211Gly)
c.9643A>G (p.Arg3215Gly)
c.9622A>G (p.Arg3208Gly)
c.9277A>G (p.Arg3093Gly)
c.5623A>G (p.Arg1875Gly)
c.9517A>G (p.Arg3173Gly)
c.9508A>G (p.Arg3170Gly)
c.9523A>G (p.Arg3175Gly)
c.3820A>G (p.Arg1274Gly)
Xg.31206585T>GCA515857022DMDc.4492A>C (p.Arg1498=)
c.442A>C (p.Arg148=)
n.444A>C
c.2266A>C (p.Arg756=)
n.1163A>C
n.745A>C
n.1164A>C
n.3138A>C
c.1501A>C (p.Arg501=)
c.9646A>C (p.Arg3216=)
c.5614A>C (p.Arg1872=)
c.319A>C (p.Arg107=)
c.385A>C (p.Arg129=)
n.576A>C
c.1459A>C (p.Arg487=)
c.2734A>C (p.Arg912=)
c.9634A>C (p.Arg3212=)
c.16A>C (p.Arg6=)
c.9631A>C (p.Arg3211=)
c.9643A>C (p.Arg3215=)
c.9622A>C (p.Arg3208=)
c.9277A>C (p.Arg3093=)
c.5623A>C (p.Arg1875=)
c.9517A>C (p.Arg3173=)
c.9508A>C (p.Arg3170=)
c.9523A>C (p.Arg3175=)
c.3820A>C (p.Arg1274=)
Xg.31206586G>ACA515857023DMDc.4491C>T (p.Tyr1497=)
c.441C>T (p.Tyr147=)
n.443C>T
c.2265C>T (p.Tyr755=)
n.1162C>T
n.744C>T
n.1163C>T
n.3137C>T
c.1500C>T (p.Tyr500=)
c.9645C>T (p.Tyr3215=)
c.5613C>T (p.Tyr1871=)
c.318C>T (p.Tyr106=)
c.384C>T (p.Tyr128=)
n.575C>T
c.1458C>T (p.Tyr486=)
c.2733C>T (p.Tyr911=)
c.9633C>T (p.Tyr3211=)
c.15C>T (p.Tyr5=)
c.9630C>T (p.Tyr3210=)
c.9642C>T (p.Tyr3214=)
c.9621C>T (p.Tyr3207=)
c.9276C>T (p.Tyr3092=)
c.5622C>T (p.Tyr1874=)
c.9516C>T (p.Tyr3172=)
c.9507C>T (p.Tyr3169=)
c.9522C>T (p.Tyr3174=)
c.3819C>T (p.Tyr1273=)
Xg.31206586G>CCA412649358DMDc.4491C>G (p.Tyr1497Ter)
c.441C>G (p.Tyr147Ter)
n.443C>G
c.2265C>G (p.Tyr755Ter)
n.1162C>G
n.744C>G
n.1163C>G
n.3137C>G
c.1500C>G (p.Tyr500Ter)
c.9645C>G (p.Tyr3215Ter)
c.5613C>G (p.Tyr1871Ter)
c.318C>G (p.Tyr106Ter)
c.384C>G (p.Tyr128Ter)
n.575C>G
c.1458C>G (p.Tyr486Ter)
c.2733C>G (p.Tyr911Ter)
c.9633C>G (p.Tyr3211Ter)
c.15C>G (p.Tyr5Ter)
c.9630C>G (p.Tyr3210Ter)
c.9642C>G (p.Tyr3214Ter)
c.9621C>G (p.Tyr3207Ter)
c.9276C>G (p.Tyr3092Ter)
c.5622C>G (p.Tyr1874Ter)
c.9516C>G (p.Tyr3172Ter)
c.9507C>G (p.Tyr3169Ter)
c.9522C>G (p.Tyr3174Ter)
c.3819C>G (p.Tyr1273Ter)
 ClinVar dbSNP
Xg.31206586G>TCA412649360DMDc.4491C>A (p.Tyr1497Ter)
c.441C>A (p.Tyr147Ter)
n.443C>A
c.2265C>A (p.Tyr755Ter)
n.1162C>A
n.744C>A
n.1163C>A
n.3137C>A
c.1500C>A (p.Tyr500Ter)
c.9645C>A (p.Tyr3215Ter)
c.5613C>A (p.Tyr1871Ter)
c.318C>A (p.Tyr106Ter)
c.384C>A (p.Tyr128Ter)
n.575C>A
c.1458C>A (p.Tyr486Ter)
c.2733C>A (p.Tyr911Ter)
c.9633C>A (p.Tyr3211Ter)
c.15C>A (p.Tyr5Ter)
c.9630C>A (p.Tyr3210Ter)
c.9642C>A (p.Tyr3214Ter)
c.9621C>A (p.Tyr3207Ter)
c.9276C>A (p.Tyr3092Ter)
c.5622C>A (p.Tyr1874Ter)
c.9516C>A (p.Tyr3172Ter)
c.9507C>A (p.Tyr3169Ter)
c.9522C>A (p.Tyr3174Ter)
c.3819C>A (p.Tyr1273Ter)
 dbSNP gnomAD v4
Xg.31206587T>ACA412649364DMDc.4490A>T (p.Tyr1497Phe)
c.440A>T (p.Tyr147Phe)
n.442A>T
c.2264A>T (p.Tyr755Phe)
n.1161A>T
n.743A>T
n.1162A>T
n.3136A>T
c.1499A>T (p.Tyr500Phe)
c.9644A>T (p.Tyr3215Phe)
c.5612A>T (p.Tyr1871Phe)
c.317A>T (p.Tyr106Phe)
c.383A>T (p.Tyr128Phe)
n.574A>T
c.1457A>T (p.Tyr486Phe)
c.2732A>T (p.Tyr911Phe)
c.9632A>T (p.Tyr3211Phe)
c.14A>T (p.Tyr5Phe)
c.9629A>T (p.Tyr3210Phe)
c.9641A>T (p.Tyr3214Phe)
c.9620A>T (p.Tyr3207Phe)
c.9275A>T (p.Tyr3092Phe)
c.5621A>T (p.Tyr1874Phe)
c.9515A>T (p.Tyr3172Phe)
c.9506A>T (p.Tyr3169Phe)
c.9521A>T (p.Tyr3174Phe)
c.3818A>T (p.Tyr1273Phe)
Xg.31206587T>CCA412649365DMDc.4490A>G (p.Tyr1497Cys)
c.440A>G (p.Tyr147Cys)
n.442A>G
c.2264A>G (p.Tyr755Cys)
n.1161A>G
n.743A>G
n.1162A>G
n.3136A>G
c.1499A>G (p.Tyr500Cys)
c.9644A>G (p.Tyr3215Cys)
c.5612A>G (p.Tyr1871Cys)
c.317A>G (p.Tyr106Cys)
c.383A>G (p.Tyr128Cys)
n.574A>G
c.1457A>G (p.Tyr486Cys)
c.2732A>G (p.Tyr911Cys)
c.9632A>G (p.Tyr3211Cys)
c.14A>G (p.Tyr5Cys)
c.9629A>G (p.Tyr3210Cys)
c.9641A>G (p.Tyr3214Cys)
c.9620A>G (p.Tyr3207Cys)
c.9275A>G (p.Tyr3092Cys)
c.5621A>G (p.Tyr1874Cys)
c.9515A>G (p.Tyr3172Cys)
c.9506A>G (p.Tyr3169Cys)
c.9521A>G (p.Tyr3174Cys)
c.3818A>G (p.Tyr1273Cys)
Xg.31206587T>GCA412649367DMDc.4490A>C (p.Tyr1497Ser)
c.440A>C (p.Tyr147Ser)
n.442A>C
c.2264A>C (p.Tyr755Ser)
n.1161A>C
n.743A>C
n.1162A>C
n.3136A>C
c.1499A>C (p.Tyr500Ser)
c.9644A>C (p.Tyr3215Ser)
c.5612A>C (p.Tyr1871Ser)
c.317A>C (p.Tyr106Ser)
c.383A>C (p.Tyr128Ser)
n.574A>C
c.1457A>C (p.Tyr486Ser)
c.2732A>C (p.Tyr911Ser)
c.9632A>C (p.Tyr3211Ser)
c.14A>C (p.Tyr5Ser)
c.9629A>C (p.Tyr3210Ser)
c.9641A>C (p.Tyr3214Ser)
c.9620A>C (p.Tyr3207Ser)
c.9275A>C (p.Tyr3092Ser)
c.5621A>C (p.Tyr1874Ser)
c.9515A>C (p.Tyr3172Ser)
c.9506A>C (p.Tyr3169Ser)
c.9521A>C (p.Tyr3174Ser)
c.3818A>C (p.Tyr1273Ser)
Xg.31206588A>CCA412649370DMDc.4489T>G (p.Tyr1497Asp)
c.439T>G (p.Tyr147Asp)
n.441T>G
c.2263T>G (p.Tyr755Asp)
n.1160T>G
n.742T>G
n.1161T>G
n.3135T>G
c.1498T>G (p.Tyr500Asp)
c.9643T>G (p.Tyr3215Asp)
c.5611T>G (p.Tyr1871Asp)
c.316T>G (p.Tyr106Asp)
c.382T>G (p.Tyr128Asp)
n.573T>G
c.1456T>G (p.Tyr486Asp)
c.2731T>G (p.Tyr911Asp)
c.9631T>G (p.Tyr3211Asp)
c.13T>G (p.Tyr5Asp)
c.9628T>G (p.Tyr3210Asp)
c.9640T>G (p.Tyr3214Asp)
c.9619T>G (p.Tyr3207Asp)
c.9274T>G (p.Tyr3092Asp)
c.5620T>G (p.Tyr1874Asp)
c.9514T>G (p.Tyr3172Asp)
c.9505T>G (p.Tyr3169Asp)
c.9520T>G (p.Tyr3174Asp)
c.3817T>G (p.Tyr1273Asp)
Xg.31206588A>GCA412649372DMDc.4489T>C (p.Tyr1497His)
c.439T>C (p.Tyr147His)
n.441T>C
c.2263T>C (p.Tyr755His)
n.1160T>C
n.742T>C
n.1161T>C
n.3135T>C
c.1498T>C (p.Tyr500His)
c.9643T>C (p.Tyr3215His)
c.5611T>C (p.Tyr1871His)
c.316T>C (p.Tyr106His)
c.382T>C (p.Tyr128His)
n.573T>C
c.1456T>C (p.Tyr486His)
c.2731T>C (p.Tyr911His)
c.9631T>C (p.Tyr3211His)
c.13T>C (p.Tyr5His)
c.9628T>C (p.Tyr3210His)
c.9640T>C (p.Tyr3214His)
c.9619T>C (p.Tyr3207His)
c.9274T>C (p.Tyr3092His)
c.5620T>C (p.Tyr1874His)
c.9514T>C (p.Tyr3172His)
c.9505T>C (p.Tyr3169His)
c.9520T>C (p.Tyr3174His)
c.3817T>C (p.Tyr1273His)
Xg.31206588A>TCA412649368DMDc.4489T>A (p.Tyr1497Asn)
c.439T>A (p.Tyr147Asn)
n.441T>A
c.2263T>A (p.Tyr755Asn)
n.1160T>A
n.742T>A
n.1161T>A
n.3135T>A
c.1498T>A (p.Tyr500Asn)
c.9643T>A (p.Tyr3215Asn)
c.5611T>A (p.Tyr1871Asn)
c.316T>A (p.Tyr106Asn)
c.382T>A (p.Tyr128Asn)
n.573T>A
c.1456T>A (p.Tyr486Asn)
c.2731T>A (p.Tyr911Asn)
c.9631T>A (p.Tyr3211Asn)
c.13T>A (p.Tyr5Asn)
c.9628T>A (p.Tyr3210Asn)
c.9640T>A (p.Tyr3214Asn)
c.9619T>A (p.Tyr3207Asn)
c.9274T>A (p.Tyr3092Asn)
c.5620T>A (p.Tyr1874Asn)
c.9514T>A (p.Tyr3172Asn)
c.9505T>A (p.Tyr3169Asn)
c.9520T>A (p.Tyr3174Asn)
c.3817T>A (p.Tyr1273Asn)
Xg.31206589C>ACA412649373DMDc.4488G>T (p.Lys1496Asn)
c.438G>T (p.Lys146Asn)
n.440G>T
c.2262G>T (p.Lys754Asn)
n.1159G>T
n.741G>T
n.1160G>T
n.3134G>T
c.1497G>T (p.Lys499Asn)
c.9642G>T (p.Lys3214Asn)
c.5610G>T (p.Lys1870Asn)
c.315G>T (p.Lys105Asn)
c.381G>T (p.Lys127Asn)
n.572G>T
c.1455G>T (p.Lys485Asn)
c.2730G>T (p.Lys910Asn)
c.9630G>T (p.Lys3210Asn)
c.12G>T (p.Lys4Asn)
c.9627G>T (p.Lys3209Asn)
c.9639G>T (p.Lys3213Asn)
c.9618G>T (p.Lys3206Asn)
c.9273G>T (p.Lys3091Asn)
c.5619G>T (p.Lys1873Asn)
c.9513G>T (p.Lys3171Asn)
c.9504G>T (p.Lys3168Asn)
c.9519G>T (p.Lys3173Asn)
c.3816G>T (p.Lys1272Asn)
Xg.31206589C=CA2422348450DMDc.4488G= (p.Lys1496=)
c.438G= (p.Lys146=)
n.440G=
c.2262G= (p.Lys754=)
n.1159G=
n.741G=
n.1160G=
n.3134G=
c.1497G= (p.Lys499=)
c.9642G= (p.Lys3214=)
c.5610G= (p.Lys1870=)
c.315G= (p.Lys105=)
c.381G= (p.Lys127=)
n.572G=
c.1455G= (p.Lys485=)
c.2730G= (p.Lys910=)
c.9630G= (p.Lys3210=)
c.12G= (p.Lys4=)
c.9627G= (p.Lys3209=)
c.9639G= (p.Lys3213=)
c.9618G= (p.Lys3206=)
c.9273G= (p.Lys3091=)
c.5619G= (p.Lys1873=)
c.9513G= (p.Lys3171=)
c.9504G= (p.Lys3168=)
c.9519G= (p.Lys3173=)
c.3816G= (p.Lys1272=)
Xg.31206589C>GCA412649375DMDc.4488G>C (p.Lys1496Asn)
c.438G>C (p.Lys146Asn)
n.440G>C
c.2262G>C (p.Lys754Asn)
n.1159G>C
n.741G>C
n.1160G>C
n.3134G>C
c.1497G>C (p.Lys499Asn)
c.9642G>C (p.Lys3214Asn)
c.5610G>C (p.Lys1870Asn)
c.315G>C (p.Lys105Asn)
c.381G>C (p.Lys127Asn)
n.572G>C
c.1455G>C (p.Lys485Asn)
c.2730G>C (p.Lys910Asn)
c.9630G>C (p.Lys3210Asn)
c.12G>C (p.Lys4Asn)
c.9627G>C (p.Lys3209Asn)
c.9639G>C (p.Lys3213Asn)
c.9618G>C (p.Lys3206Asn)
c.9273G>C (p.Lys3091Asn)
c.5619G>C (p.Lys1873Asn)
c.9513G>C (p.Lys3171Asn)
c.9504G>C (p.Lys3168Asn)
c.9519G>C (p.Lys3173Asn)
c.3816G>C (p.Lys1272Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31206589C>TCA515857028DMDc.4488G>A (p.Lys1496=)
c.438G>A (p.Lys146=)
n.440G>A
c.2262G>A (p.Lys754=)
n.1159G>A
n.741G>A
n.1160G>A
n.3134G>A
c.1497G>A (p.Lys499=)
c.9642G>A (p.Lys3214=)
c.5610G>A (p.Lys1870=)
c.315G>A (p.Lys105=)
c.381G>A (p.Lys127=)
n.572G>A
c.1455G>A (p.Lys485=)
c.2730G>A (p.Lys910=)
c.9630G>A (p.Lys3210=)
c.12G>A (p.Lys4=)
c.9627G>A (p.Lys3209=)
c.9639G>A (p.Lys3213=)
c.9618G>A (p.Lys3206=)
c.9273G>A (p.Lys3091=)
c.5619G>A (p.Lys1873=)
c.9513G>A (p.Lys3171=)
c.9504G>A (p.Lys3168=)
c.9519G>A (p.Lys3173=)
c.3816G>A (p.Lys1272=)
Xg.31206592_31206596delCA2573158733DMDc.4484_4488del (p.Asp1495ValfsTer16)
c.434_438del (p.Asp145ValfsTer16)
n.436_440del
c.2258_2262del (p.Asp753ValfsTer16)
n.1155_1159del
n.737_741del
n.1156_1160del
n.3130_3134del
c.1493_1497del (p.Asp498ValfsTer16)
c.9638_9642del (p.Asp3213ValfsTer16)
c.5606_5610del (p.Asp1869ValfsTer16)
c.311_315del (p.Asp104ValfsTer16)
c.377_381del (p.Asp126ValfsTer16)
n.568_572del
c.1451_1455del (p.Asp484ValfsTer16)
c.2726_2730del (p.Asp909ValfsTer16)
c.9626_9630del (p.Asp3209ValfsTer16)
c.8_12del (p.Asp3ValfsTer16)
c.9623_9627del (p.Asp3208ValfsTer16)
c.9635_9639del (p.Asp3212ValfsTer16)
c.9614_9618del (p.Asp3205ValfsTer16)
c.9269_9273del (p.Asp3090ValfsTer16)
c.5615_5619del (p.Asp1872ValfsTer16)
c.9509_9513del (p.Asp3170ValfsTer16)
c.9500_9504del (p.Asp3167ValfsTer16)
c.9515_9519del (p.Asp3172ValfsTer16)
c.3812_3816del (p.Asp1271ValfsTer16)
 ClinVar dbSNP
Xg.31206590T>ACA412649377DMDc.4487A>T (p.Lys1496Met)
c.437A>T (p.Lys146Met)
n.439A>T
c.2261A>T (p.Lys754Met)
n.1158A>T
n.740A>T
n.1159A>T
n.3133A>T
c.1496A>T (p.Lys499Met)
c.9641A>T (p.Lys3214Met)
c.5609A>T (p.Lys1870Met)
c.314A>T (p.Lys105Met)
c.380A>T (p.Lys127Met)
n.571A>T
c.1454A>T (p.Lys485Met)
c.2729A>T (p.Lys910Met)
c.9629A>T (p.Lys3210Met)
c.11A>T (p.Lys4Met)
c.9626A>T (p.Lys3209Met)
c.9638A>T (p.Lys3213Met)
c.9617A>T (p.Lys3206Met)
c.9272A>T (p.Lys3091Met)
c.5618A>T (p.Lys1873Met)
c.9512A>T (p.Lys3171Met)
c.9503A>T (p.Lys3168Met)
c.9518A>T (p.Lys3173Met)
c.3815A>T (p.Lys1272Met)
Xg.31206590T>CCA412649379DMDc.4487A>G (p.Lys1496Arg)
c.437A>G (p.Lys146Arg)
n.439A>G
c.2261A>G (p.Lys754Arg)
n.1158A>G
n.740A>G
n.1159A>G
n.3133A>G
c.1496A>G (p.Lys499Arg)
c.9641A>G (p.Lys3214Arg)
c.5609A>G (p.Lys1870Arg)
c.314A>G (p.Lys105Arg)
c.380A>G (p.Lys127Arg)
n.571A>G
c.1454A>G (p.Lys485Arg)
c.2729A>G (p.Lys910Arg)
c.9629A>G (p.Lys3210Arg)
c.11A>G (p.Lys4Arg)
c.9626A>G (p.Lys3209Arg)
c.9638A>G (p.Lys3213Arg)
c.9617A>G (p.Lys3206Arg)
c.9272A>G (p.Lys3091Arg)
c.5618A>G (p.Lys1873Arg)
c.9512A>G (p.Lys3171Arg)
c.9503A>G (p.Lys3168Arg)
c.9518A>G (p.Lys3173Arg)
c.3815A>G (p.Lys1272Arg)
 dbSNP gnomAD v4
Xg.31206590T>GCA412649380DMDc.4487A>C (p.Lys1496Thr)
c.437A>C (p.Lys146Thr)
n.439A>C
c.2261A>C (p.Lys754Thr)
n.1158A>C
n.740A>C
n.1159A>C
n.3133A>C
c.1496A>C (p.Lys499Thr)
c.9641A>C (p.Lys3214Thr)
c.5609A>C (p.Lys1870Thr)
c.314A>C (p.Lys105Thr)
c.380A>C (p.Lys127Thr)
n.571A>C
c.1454A>C (p.Lys485Thr)
c.2729A>C (p.Lys910Thr)
c.9629A>C (p.Lys3210Thr)
c.11A>C (p.Lys4Thr)
c.9626A>C (p.Lys3209Thr)
c.9638A>C (p.Lys3213Thr)
c.9617A>C (p.Lys3206Thr)
c.9272A>C (p.Lys3091Thr)
c.5618A>C (p.Lys1873Thr)
c.9512A>C (p.Lys3171Thr)
c.9503A>C (p.Lys3168Thr)
c.9518A>C (p.Lys3173Thr)
c.3815A>C (p.Lys1272Thr)
Xg.31206590_31206591delCA2695232304DMDc.4486_4487del (p.Lys1496ValfsTer16)
c.436_437del (p.Lys146ValfsTer16)
n.438_439del
c.2260_2261del (p.Lys754ValfsTer16)
n.1157_1158del
n.739_740del
n.1158_1159del
n.3132_3133del
c.1495_1496del (p.Lys499ValfsTer16)
c.9640_9641del (p.Lys3214ValfsTer16)
c.5608_5609del (p.Lys1870ValfsTer16)
c.313_314del (p.Lys105ValfsTer16)
c.379_380del (p.Lys127ValfsTer16)
n.570_571del
c.1453_1454del (p.Lys485ValfsTer16)
c.2728_2729del (p.Lys910ValfsTer16)
c.9628_9629del (p.Lys3210ValfsTer16)
c.10_11del (p.Lys4ValfsTer16)
c.9625_9626del (p.Lys3209ValfsTer16)
c.9637_9638del (p.Lys3213ValfsTer16)
c.9616_9617del (p.Lys3206ValfsTer16)
c.9271_9272del (p.Lys3091ValfsTer16)
c.5617_5618del (p.Lys1873ValfsTer16)
c.9511_9512del (p.Lys3171ValfsTer16)
c.9502_9503del (p.Lys3168ValfsTer16)
c.9517_9518del (p.Lys3173ValfsTer16)
c.3814_3815del (p.Lys1272ValfsTer16)
Xg.31206591T>ACA412649385DMDc.4486A>T (p.Lys1496Ter)
c.436A>T (p.Lys146Ter)
n.438A>T
c.2260A>T (p.Lys754Ter)
n.1157A>T
n.739A>T
n.1158A>T
n.3132A>T
c.1495A>T (p.Lys499Ter)
c.9640A>T (p.Lys3214Ter)
c.5608A>T (p.Lys1870Ter)
c.313A>T (p.Lys105Ter)
c.379A>T (p.Lys127Ter)
n.570A>T
c.1453A>T (p.Lys485Ter)
c.2728A>T (p.Lys910Ter)
c.9628A>T (p.Lys3210Ter)
c.10A>T (p.Lys4Ter)
c.9625A>T (p.Lys3209Ter)
c.9637A>T (p.Lys3213Ter)
c.9616A>T (p.Lys3206Ter)
c.9271A>T (p.Lys3091Ter)
c.5617A>T (p.Lys1873Ter)
c.9511A>T (p.Lys3171Ter)
c.9502A>T (p.Lys3168Ter)
c.9517A>T (p.Lys3173Ter)
c.3814A>T (p.Lys1272Ter)
Xg.31206591T>CCA412649382DMDc.4486A>G (p.Lys1496Glu)
c.436A>G (p.Lys146Glu)
n.438A>G
c.2260A>G (p.Lys754Glu)
n.1157A>G
n.739A>G
n.1158A>G
n.3132A>G
c.1495A>G (p.Lys499Glu)
c.9640A>G (p.Lys3214Glu)
c.5608A>G (p.Lys1870Glu)
c.313A>G (p.Lys105Glu)
c.379A>G (p.Lys127Glu)
n.570A>G
c.1453A>G (p.Lys485Glu)
c.2728A>G (p.Lys910Glu)
c.9628A>G (p.Lys3210Glu)
c.10A>G (p.Lys4Glu)
c.9625A>G (p.Lys3209Glu)
c.9637A>G (p.Lys3213Glu)
c.9616A>G (p.Lys3206Glu)
c.9271A>G (p.Lys3091Glu)
c.5617A>G (p.Lys1873Glu)
c.9511A>G (p.Lys3171Glu)
c.9502A>G (p.Lys3168Glu)
c.9517A>G (p.Lys3173Glu)
c.3814A>G (p.Lys1272Glu)
 gnomAD v4
Xg.31206591T>GCA412649384DMDc.4486A>C (p.Lys1496Gln)
c.436A>C (p.Lys146Gln)
n.438A>C
c.2260A>C (p.Lys754Gln)
n.1157A>C
n.739A>C
n.1158A>C
n.3132A>C
c.1495A>C (p.Lys499Gln)
c.9640A>C (p.Lys3214Gln)
c.5608A>C (p.Lys1870Gln)
c.313A>C (p.Lys105Gln)
c.379A>C (p.Lys127Gln)
n.570A>C
c.1453A>C (p.Lys485Gln)
c.2728A>C (p.Lys910Gln)
c.9628A>C (p.Lys3210Gln)
c.10A>C (p.Lys4Gln)
c.9625A>C (p.Lys3209Gln)
c.9637A>C (p.Lys3213Gln)
c.9616A>C (p.Lys3206Gln)
c.9271A>C (p.Lys3091Gln)
c.5617A>C (p.Lys1873Gln)
c.9511A>C (p.Lys3171Gln)
c.9502A>C (p.Lys3168Gln)
c.9517A>C (p.Lys3173Gln)
c.3814A>C (p.Lys1272Gln)
Xg.31206592G>ACA515857030DMDc.4485C>T (p.Asp1495=)
c.435C>T (p.Asp145=)
n.437C>T
c.2259C>T (p.Asp753=)
n.1156C>T
n.738C>T
n.1157C>T
n.3131C>T
c.1494C>T (p.Asp498=)
c.9639C>T (p.Asp3213=)
c.5607C>T (p.Asp1869=)
c.312C>T (p.Asp104=)
c.378C>T (p.Asp126=)
n.569C>T
c.1452C>T (p.Asp484=)
c.2727C>T (p.Asp909=)
c.9627C>T (p.Asp3209=)
c.9C>T (p.Asp3=)
c.9624C>T (p.Asp3208=)
c.9636C>T (p.Asp3212=)
c.9615C>T (p.Asp3205=)
c.9270C>T (p.Asp3090=)
c.5616C>T (p.Asp1872=)
c.9510C>T (p.Asp3170=)
c.9501C>T (p.Asp3167=)
c.9516C>T (p.Asp3172=)
c.3813C>T (p.Asp1271=)
Xg.31206592G>CCA412649386DMDc.4485C>G (p.Asp1495Glu)
c.435C>G (p.Asp145Glu)
n.437C>G
c.2259C>G (p.Asp753Glu)
n.1156C>G
n.738C>G
n.1157C>G
n.3131C>G
c.1494C>G (p.Asp498Glu)
c.9639C>G (p.Asp3213Glu)
c.5607C>G (p.Asp1869Glu)
c.312C>G (p.Asp104Glu)
c.378C>G (p.Asp126Glu)
n.569C>G
c.1452C>G (p.Asp484Glu)
c.2727C>G (p.Asp909Glu)
c.9627C>G (p.Asp3209Glu)
c.9C>G (p.Asp3Glu)
c.9624C>G (p.Asp3208Glu)
c.9636C>G (p.Asp3212Glu)
c.9615C>G (p.Asp3205Glu)
c.9270C>G (p.Asp3090Glu)
c.5616C>G (p.Asp1872Glu)
c.9510C>G (p.Asp3170Glu)
c.9501C>G (p.Asp3167Glu)
c.9516C>G (p.Asp3172Glu)
c.3813C>G (p.Asp1271Glu)
 gnomAD v4
Xg.31206592G>TCA412649387DMDc.4485C>A (p.Asp1495Glu)
c.435C>A (p.Asp145Glu)
n.437C>A
c.2259C>A (p.Asp753Glu)
n.1156C>A
n.738C>A
n.1157C>A
n.3131C>A
c.1494C>A (p.Asp498Glu)
c.9639C>A (p.Asp3213Glu)
c.5607C>A (p.Asp1869Glu)
c.312C>A (p.Asp104Glu)
c.378C>A (p.Asp126Glu)
n.569C>A
c.1452C>A (p.Asp484Glu)
c.2727C>A (p.Asp909Glu)
c.9627C>A (p.Asp3209Glu)
c.9C>A (p.Asp3Glu)
c.9624C>A (p.Asp3208Glu)
c.9636C>A (p.Asp3212Glu)
c.9615C>A (p.Asp3205Glu)
c.9270C>A (p.Asp3090Glu)
c.5616C>A (p.Asp1872Glu)
c.9510C>A (p.Asp3170Glu)
c.9501C>A (p.Asp3167Glu)
c.9516C>A (p.Asp3172Glu)
c.3813C>A (p.Asp1271Glu)
Xg.31206593T>ACA412649389DMDc.4484A>T (p.Asp1495Val)
c.434A>T (p.Asp145Val)
n.436A>T
c.2258A>T (p.Asp753Val)
n.1155A>T
n.737A>T
n.1156A>T
n.3130A>T
c.1493A>T (p.Asp498Val)
c.9638A>T (p.Asp3213Val)
c.5606A>T (p.Asp1869Val)
c.311A>T (p.Asp104Val)
c.377A>T (p.Asp126Val)
n.568A>T
c.1451A>T (p.Asp484Val)
c.2726A>T (p.Asp909Val)
c.9626A>T (p.Asp3209Val)
c.8A>T (p.Asp3Val)
c.9623A>T (p.Asp3208Val)
c.9635A>T (p.Asp3212Val)
c.9614A>T (p.Asp3205Val)
c.9269A>T (p.Asp3090Val)
c.5615A>T (p.Asp1872Val)
c.9509A>T (p.Asp3170Val)
c.9500A>T (p.Asp3167Val)
c.9515A>T (p.Asp3172Val)
c.3812A>T (p.Asp1271Val)
Xg.31206593T>CCA412649390DMDc.4484A>G (p.Asp1495Gly)
c.434A>G (p.Asp145Gly)
n.436A>G
c.2258A>G (p.Asp753Gly)
n.1155A>G
n.737A>G
n.1156A>G
n.3130A>G
c.1493A>G (p.Asp498Gly)
c.9638A>G (p.Asp3213Gly)
c.5606A>G (p.Asp1869Gly)
c.311A>G (p.Asp104Gly)
c.377A>G (p.Asp126Gly)
n.568A>G
c.1451A>G (p.Asp484Gly)
c.2726A>G (p.Asp909Gly)
c.9626A>G (p.Asp3209Gly)
c.8A>G (p.Asp3Gly)
c.9623A>G (p.Asp3208Gly)
c.9635A>G (p.Asp3212Gly)
c.9614A>G (p.Asp3205Gly)
c.9269A>G (p.Asp3090Gly)
c.5615A>G (p.Asp1872Gly)
c.9509A>G (p.Asp3170Gly)
c.9500A>G (p.Asp3167Gly)
c.9515A>G (p.Asp3172Gly)
c.3812A>G (p.Asp1271Gly)
Xg.31206593T>GCA412649391DMDc.4484A>C (p.Asp1495Ala)
c.434A>C (p.Asp145Ala)
n.436A>C
c.2258A>C (p.Asp753Ala)
n.1155A>C
n.737A>C
n.1156A>C
n.3130A>C
c.1493A>C (p.Asp498Ala)
c.9638A>C (p.Asp3213Ala)
c.5606A>C (p.Asp1869Ala)
c.311A>C (p.Asp104Ala)
c.377A>C (p.Asp126Ala)
n.568A>C
c.1451A>C (p.Asp484Ala)
c.2726A>C (p.Asp909Ala)
c.9626A>C (p.Asp3209Ala)
c.8A>C (p.Asp3Ala)
c.9623A>C (p.Asp3208Ala)
c.9635A>C (p.Asp3212Ala)
c.9614A>C (p.Asp3205Ala)
c.9269A>C (p.Asp3090Ala)
c.5615A>C (p.Asp1872Ala)
c.9509A>C (p.Asp3170Ala)
c.9500A>C (p.Asp3167Ala)
c.9515A>C (p.Asp3172Ala)
c.3812A>C (p.Asp1271Ala)
Xg.31206594C>ACA412649396DMDc.4483G>T (p.Asp1495Tyr)
c.433G>T (p.Asp145Tyr)
n.435G>T
c.2257G>T (p.Asp753Tyr)
n.1154G>T
n.736G>T
n.1155G>T
n.3129G>T
c.1492G>T (p.Asp498Tyr)
c.9637G>T (p.Asp3213Tyr)
c.5605G>T (p.Asp1869Tyr)
c.310G>T (p.Asp104Tyr)
c.376G>T (p.Asp126Tyr)
n.567G>T
c.1450G>T (p.Asp484Tyr)
c.2725G>T (p.Asp909Tyr)
c.9625G>T (p.Asp3209Tyr)
c.7G>T (p.Asp3Tyr)
c.9622G>T (p.Asp3208Tyr)
c.9634G>T (p.Asp3212Tyr)
c.9613G>T (p.Asp3205Tyr)
c.9268G>T (p.Asp3090Tyr)
c.5614G>T (p.Asp1872Tyr)
c.9508G>T (p.Asp3170Tyr)
c.9499G>T (p.Asp3167Tyr)
c.9514G>T (p.Asp3172Tyr)
c.3811G>T (p.Asp1271Tyr)
Xg.31206594C>GCA412649394DMDc.4483G>C (p.Asp1495His)
c.433G>C (p.Asp145His)
n.435G>C
c.2257G>C (p.Asp753His)
n.1154G>C
n.736G>C
n.1155G>C
n.3129G>C
c.1492G>C (p.Asp498His)
c.9637G>C (p.Asp3213His)
c.5605G>C (p.Asp1869His)
c.310G>C (p.Asp104His)
c.376G>C (p.Asp126His)
n.567G>C
c.1450G>C (p.Asp484His)
c.2725G>C (p.Asp909His)
c.9625G>C (p.Asp3209His)
c.7G>C (p.Asp3His)
c.9622G>C (p.Asp3208His)
c.9634G>C (p.Asp3212His)
c.9613G>C (p.Asp3205His)
c.9268G>C (p.Asp3090His)
c.5614G>C (p.Asp1872His)
c.9508G>C (p.Asp3170His)
c.9499G>C (p.Asp3167His)
c.9514G>C (p.Asp3172His)
c.3811G>C (p.Asp1271His)
Xg.31206594C>TCA412649393DMDc.4483G>A (p.Asp1495Asn)
c.433G>A (p.Asp145Asn)
n.435G>A
c.2257G>A (p.Asp753Asn)
n.1154G>A
n.736G>A
n.1155G>A
n.3129G>A
c.1492G>A (p.Asp498Asn)
c.9637G>A (p.Asp3213Asn)
c.5605G>A (p.Asp1869Asn)
c.310G>A (p.Asp104Asn)
c.376G>A (p.Asp126Asn)
n.567G>A
c.1450G>A (p.Asp484Asn)
c.2725G>A (p.Asp909Asn)
c.9625G>A (p.Asp3209Asn)
c.7G>A (p.Asp3Asn)
c.9622G>A (p.Asp3208Asn)
c.9634G>A (p.Asp3212Asn)
c.9613G>A (p.Asp3205Asn)
c.9268G>A (p.Asp3090Asn)
c.5614G>A (p.Asp1872Asn)
c.9508G>A (p.Asp3170Asn)
c.9499G>A (p.Asp3167Asn)
c.9514G>A (p.Asp3172Asn)
c.3811G>A (p.Asp1271Asn)
Xg.31206595T>ACA412649398DMDc.4482A>T (p.Glu1494Asp)
c.432A>T (p.Glu144Asp)
n.434A>T
c.2256A>T (p.Glu752Asp)
n.1153A>T
n.735A>T
n.1154A>T
n.3128A>T
c.1491A>T (p.Glu497Asp)
c.9636A>T (p.Glu3212Asp)
c.5604A>T (p.Glu1868Asp)
c.309A>T (p.Glu103Asp)
c.375A>T (p.Glu125Asp)
n.566A>T
c.1449A>T (p.Glu483Asp)
c.2724A>T (p.Glu908Asp)
c.9624A>T (p.Glu3208Asp)
c.6A>T (p.Glu2Asp)
c.9621A>T (p.Glu3207Asp)
c.9633A>T (p.Glu3211Asp)
c.9612A>T (p.Glu3204Asp)
c.9267A>T (p.Glu3089Asp)
c.5613A>T (p.Glu1871Asp)
c.9507A>T (p.Glu3169Asp)
c.9498A>T (p.Glu3166Asp)
c.9513A>T (p.Glu3171Asp)
c.3810A>T (p.Glu1270Asp)
Xg.31206595T>CCA328407914DMDc.4482A>G (p.Glu1494=)
c.432A>G (p.Glu144=)
n.434A>G
c.2256A>G (p.Glu752=)
n.1153A>G
n.735A>G
n.1154A>G
n.3128A>G
c.1491A>G (p.Glu497=)
c.9636A>G (p.Glu3212=)
c.5604A>G (p.Glu1868=)
c.309A>G (p.Glu103=)
c.375A>G (p.Glu125=)
n.566A>G
c.1449A>G (p.Glu483=)
c.2724A>G (p.Glu908=)
c.9624A>G (p.Glu3208=)
c.6A>G (p.Glu2=)
c.9621A>G (p.Glu3207=)
c.9633A>G (p.Glu3211=)
c.9612A>G (p.Glu3204=)
c.9267A>G (p.Glu3089=)
c.5613A>G (p.Glu1871=)
c.9507A>G (p.Glu3169=)
c.9498A>G (p.Glu3166=)
c.9513A>G (p.Glu3171=)
c.3810A>G (p.Glu1270=)
 dbSNP gnomAD v3 gnomAD v4
Xg.31206595T>GCA412649399DMDc.4482A>C (p.Glu1494Asp)
c.432A>C (p.Glu144Asp)
n.434A>C
c.2256A>C (p.Glu752Asp)
n.1153A>C
n.735A>C
n.1154A>C
n.3128A>C
c.1491A>C (p.Glu497Asp)
c.9636A>C (p.Glu3212Asp)
c.5604A>C (p.Glu1868Asp)
c.309A>C (p.Glu103Asp)
c.375A>C (p.Glu125Asp)
n.566A>C
c.1449A>C (p.Glu483Asp)
c.2724A>C (p.Glu908Asp)
c.9624A>C (p.Glu3208Asp)
c.6A>C (p.Glu2Asp)
c.9621A>C (p.Glu3207Asp)
c.9633A>C (p.Glu3211Asp)
c.9612A>C (p.Glu3204Asp)
c.9267A>C (p.Glu3089Asp)
c.5613A>C (p.Glu1871Asp)
c.9507A>C (p.Glu3169Asp)
c.9498A>C (p.Glu3166Asp)
c.9513A>C (p.Glu3171Asp)
c.3810A>C (p.Glu1270Asp)
Xg.31206595T=CA2422348451DMDc.4482A= (p.Glu1494=)
c.432A= (p.Glu144=)
n.434A=
c.2256A= (p.Glu752=)
n.1153A=
n.735A=
n.1154A=
n.3128A=
c.1491A= (p.Glu497=)
c.9636A= (p.Glu3212=)
c.5604A= (p.Glu1868=)
c.309A= (p.Glu103=)
c.375A= (p.Glu125=)
n.566A=
c.1449A= (p.Glu483=)
c.2724A= (p.Glu908=)
c.9624A= (p.Glu3208=)
c.6A= (p.Glu2=)
c.9621A= (p.Glu3207=)
c.9633A= (p.Glu3211=)
c.9612A= (p.Glu3204=)
c.9267A= (p.Glu3089=)
c.5613A= (p.Glu1871=)
c.9507A= (p.Glu3169=)
c.9498A= (p.Glu3166=)
c.9513A= (p.Glu3171=)
c.3810A= (p.Glu1270=)
Xg.31206596T>ACA412649401DMDc.4481A>T (p.Glu1494Val)
c.431A>T (p.Glu144Val)
n.433A>T
c.2255A>T (p.Glu752Val)
n.1152A>T
n.734A>T
n.1153A>T
n.3127A>T
c.1490A>T (p.Glu497Val)
c.9635A>T (p.Glu3212Val)
c.5603A>T (p.Glu1868Val)
c.308A>T (p.Glu103Val)
c.374A>T (p.Glu125Val)
n.565A>T
c.1448A>T (p.Glu483Val)
c.2723A>T (p.Glu908Val)
c.9623A>T (p.Glu3208Val)
c.5A>T (p.Glu2Val)
c.9620A>T (p.Glu3207Val)
c.9632A>T (p.Glu3211Val)
c.9611A>T (p.Glu3204Val)
c.9266A>T (p.Glu3089Val)
c.5612A>T (p.Glu1871Val)
c.9506A>T (p.Glu3169Val)
c.9497A>T (p.Glu3166Val)
c.9512A>T (p.Glu3171Val)
c.3809A>T (p.Glu1270Val)
Xg.31206596T>CCA412649403DMDc.4481A>G (p.Glu1494Gly)
c.431A>G (p.Glu144Gly)
n.433A>G
c.2255A>G (p.Glu752Gly)
n.1152A>G
n.734A>G
n.1153A>G
n.3127A>G
c.1490A>G (p.Glu497Gly)
c.9635A>G (p.Glu3212Gly)
c.5603A>G (p.Glu1868Gly)
c.308A>G (p.Glu103Gly)
c.374A>G (p.Glu125Gly)
n.565A>G
c.1448A>G (p.Glu483Gly)
c.2723A>G (p.Glu908Gly)
c.9623A>G (p.Glu3208Gly)
c.5A>G (p.Glu2Gly)
c.9620A>G (p.Glu3207Gly)
c.9632A>G (p.Glu3211Gly)
c.9611A>G (p.Glu3204Gly)
c.9266A>G (p.Glu3089Gly)
c.5612A>G (p.Glu1871Gly)
c.9506A>G (p.Glu3169Gly)
c.9497A>G (p.Glu3166Gly)
c.9512A>G (p.Glu3171Gly)
c.3809A>G (p.Glu1270Gly)
Xg.31206596T>GCA412649402DMDc.4481A>C (p.Glu1494Ala)
c.431A>C (p.Glu144Ala)
n.433A>C
c.2255A>C (p.Glu752Ala)
n.1152A>C
n.734A>C
n.1153A>C
n.3127A>C
c.1490A>C (p.Glu497Ala)
c.9635A>C (p.Glu3212Ala)
c.5603A>C (p.Glu1868Ala)
c.308A>C (p.Glu103Ala)
c.374A>C (p.Glu125Ala)
n.565A>C
c.1448A>C (p.Glu483Ala)
c.2723A>C (p.Glu908Ala)
c.9623A>C (p.Glu3208Ala)
c.5A>C (p.Glu2Ala)
c.9620A>C (p.Glu3207Ala)
c.9632A>C (p.Glu3211Ala)
c.9611A>C (p.Glu3204Ala)
c.9266A>C (p.Glu3089Ala)
c.5612A>C (p.Glu1871Ala)
c.9506A>C (p.Glu3169Ala)
c.9497A>C (p.Glu3166Ala)
c.9512A>C (p.Glu3171Ala)
c.3809A>C (p.Glu1270Ala)
Xg.31206597C>ACA412649406DMDc.4480G>T (p.Glu1494Ter)
c.430G>T (p.Glu144Ter)
n.432G>T
c.2254G>T (p.Glu752Ter)
n.1151G>T
n.733G>T
n.1152G>T
n.3126G>T
c.1489G>T (p.Glu497Ter)
c.9634G>T (p.Glu3212Ter)
c.5602G>T (p.Glu1868Ter)
c.307G>T (p.Glu103Ter)
c.373G>T (p.Glu125Ter)
n.564G>T
c.1447G>T (p.Glu483Ter)
c.2722G>T (p.Glu908Ter)
c.9622G>T (p.Glu3208Ter)
c.4G>T (p.Glu2Ter)
c.9619G>T (p.Glu3207Ter)
c.9631G>T (p.Glu3211Ter)
c.9610G>T (p.Glu3204Ter)
c.9265G>T (p.Glu3089Ter)
c.5611G>T (p.Glu1871Ter)
c.9505G>T (p.Glu3169Ter)
c.9496G>T (p.Glu3166Ter)
c.9511G>T (p.Glu3171Ter)
c.3808G>T (p.Glu1270Ter)
 ClinVar dbSNP
Xg.31206597C=CA2422348452DMDc.4480G= (p.Glu1494=)
c.430G= (p.Glu144=)
n.432G=
c.2254G= (p.Glu752=)
n.1151G=
n.733G=
n.1152G=
n.3126G=
c.1489G= (p.Glu497=)
c.9634G= (p.Glu3212=)
c.5602G= (p.Glu1868=)
c.307G= (p.Glu103=)
c.373G= (p.Glu125=)
n.564G=
c.1447G= (p.Glu483=)
c.2722G= (p.Glu908=)
c.9622G= (p.Glu3208=)
c.4G= (p.Glu2=)
c.9619G= (p.Glu3207=)
c.9631G= (p.Glu3211=)
c.9610G= (p.Glu3204=)
c.9265G= (p.Glu3089=)
c.5611G= (p.Glu1871=)
c.9505G= (p.Glu3169=)
c.9496G= (p.Glu3166=)
c.9511G= (p.Glu3171=)
c.3808G= (p.Glu1270=)
Xg.31206597C>GCA412649408DMDc.4480G>C (p.Glu1494Gln)
c.430G>C (p.Glu144Gln)
n.432G>C
c.2254G>C (p.Glu752Gln)
n.1151G>C
n.733G>C
n.1152G>C
n.3126G>C
c.1489G>C (p.Glu497Gln)
c.9634G>C (p.Glu3212Gln)
c.5602G>C (p.Glu1868Gln)
c.307G>C (p.Glu103Gln)
c.373G>C (p.Glu125Gln)
n.564G>C
c.1447G>C (p.Glu483Gln)
c.2722G>C (p.Glu908Gln)
c.9622G>C (p.Glu3208Gln)
c.4G>C (p.Glu2Gln)
c.9619G>C (p.Glu3207Gln)
c.9631G>C (p.Glu3211Gln)
c.9610G>C (p.Glu3204Gln)
c.9265G>C (p.Glu3089Gln)
c.5611G>C (p.Glu1871Gln)
c.9505G>C (p.Glu3169Gln)
c.9496G>C (p.Glu3166Gln)
c.9511G>C (p.Glu3171Gln)
c.3808G>C (p.Glu1270Gln)
Xg.31206597C>TCA412649407DMDc.4480G>A (p.Glu1494Lys)
c.430G>A (p.Glu144Lys)
n.432G>A
c.2254G>A (p.Glu752Lys)
n.1151G>A
n.733G>A
n.1152G>A
n.3126G>A
c.1489G>A (p.Glu497Lys)
c.9634G>A (p.Glu3212Lys)
c.5602G>A (p.Glu1868Lys)
c.307G>A (p.Glu103Lys)
c.373G>A (p.Glu125Lys)
n.564G>A
c.1447G>A (p.Glu483Lys)
c.2722G>A (p.Glu908Lys)
c.9622G>A (p.Glu3208Lys)
c.4G>A (p.Glu2Lys)
c.9619G>A (p.Glu3207Lys)
c.9631G>A (p.Glu3211Lys)
c.9610G>A (p.Glu3204Lys)
c.9265G>A (p.Glu3089Lys)
c.5611G>A (p.Glu1871Lys)
c.9505G>A (p.Glu3169Lys)
c.9496G>A (p.Glu3166Lys)
c.9511G>A (p.Glu3171Lys)
c.3808G>A (p.Glu1270Lys)
Xg.31206598delCA2580100564DMDc.4480del (p.Glu1494LysfsTer?)
c.430del (p.Glu144LysfsTer?)
n.432del
c.2254del (p.Glu752LysfsTer?)
n.1151del
n.733del
n.1152del
n.3126del
c.1489del (p.Glu497LysfsTer?)
c.9634del (p.Glu3212LysfsTer?)
c.5602del (p.Glu1868LysfsTer?)
c.307del (p.Glu103LysfsTer?)
c.373del (p.Glu125LysfsTer?)
n.564del
c.1447del (p.Glu483LysfsTer?)
c.2722del (p.Glu908LysfsTer?)
c.9622del (p.Glu3208LysfsTer?)
c.4del (p.Glu2LysfsTer?)
c.9619del (p.Glu3207LysfsTer?)
c.9631del (p.Glu3211LysfsTer?)
c.9610del (p.Glu3204LysfsTer?)
c.9265del (p.Glu3089LysfsTer?)
c.5611del (p.Glu1871LysfsTer?)
c.9505del (p.Glu3169LysfsTer?)
c.9496del (p.Glu3166LysfsTer?)
c.9511del (p.Glu3171LysfsTer?)
c.3808del (p.Glu1270LysfsTer?)
 ClinVar
Xg.31206598C>ACA412649410DMDc.4479G>T (p.Leu1493Phe)
c.429G>T (p.Leu143Phe)
n.431G>T
c.2253G>T (p.Leu751Phe)
n.1150G>T
n.732G>T
n.1151G>T
n.3125G>T
c.1488G>T (p.Leu496Phe)
c.9633G>T (p.Leu3211Phe)
c.5601G>T (p.Leu1867Phe)
c.306G>T (p.Leu102Phe)
c.372G>T (p.Leu124Phe)
n.563G>T
c.1446G>T (p.Leu482Phe)
c.2721G>T (p.Leu907Phe)
c.9621G>T (p.Leu3207Phe)
c.3G>T (p.Leu1Phe)
c.9618G>T (p.Leu3206Phe)
c.9630G>T (p.Leu3210Phe)
c.9609G>T (p.Leu3203Phe)
c.9264G>T (p.Leu3088Phe)
c.5610G>T (p.Leu1870Phe)
c.9504G>T (p.Leu3168Phe)
c.9495G>T (p.Leu3165Phe)
c.9510G>T (p.Leu3170Phe)
c.3807G>T (p.Leu1269Phe)
Xg.31206598C>GCA412649412DMDc.4479G>C (p.Leu1493Phe)
c.429G>C (p.Leu143Phe)
n.431G>C
c.2253G>C (p.Leu751Phe)
n.1150G>C
n.732G>C
n.1151G>C
n.3125G>C
c.1488G>C (p.Leu496Phe)
c.9633G>C (p.Leu3211Phe)
c.5601G>C (p.Leu1867Phe)
c.306G>C (p.Leu102Phe)
c.372G>C (p.Leu124Phe)
n.563G>C
c.1446G>C (p.Leu482Phe)
c.2721G>C (p.Leu907Phe)
c.9621G>C (p.Leu3207Phe)
c.3G>C (p.Leu1Phe)
c.9618G>C (p.Leu3206Phe)
c.9630G>C (p.Leu3210Phe)
c.9609G>C (p.Leu3203Phe)
c.9264G>C (p.Leu3088Phe)
c.5610G>C (p.Leu1870Phe)
c.9504G>C (p.Leu3168Phe)
c.9495G>C (p.Leu3165Phe)
c.9510G>C (p.Leu3170Phe)
c.3807G>C (p.Leu1269Phe)
Xg.31206598C>TCA515857034DMDc.4479G>A (p.Leu1493=)
c.429G>A (p.Leu143=)
n.431G>A
c.2253G>A (p.Leu751=)
n.1150G>A
n.732G>A
n.1151G>A
n.3125G>A
c.1488G>A (p.Leu496=)
c.9633G>A (p.Leu3211=)
c.5601G>A (p.Leu1867=)
c.306G>A (p.Leu102=)
c.372G>A (p.Leu124=)
n.563G>A
c.1446G>A (p.Leu482=)
c.2721G>A (p.Leu907=)
c.9621G>A (p.Leu3207=)
c.3G>A (p.Leu1=)
c.9618G>A (p.Leu3206=)
c.9630G>A (p.Leu3210=)
c.9609G>A (p.Leu3203=)
c.9264G>A (p.Leu3088=)
c.5610G>A (p.Leu1870=)
c.9504G>A (p.Leu3168=)
c.9495G>A (p.Leu3165=)
c.9510G>A (p.Leu3170=)
c.3807G>A (p.Leu1269=)
 ClinVar dbSNP
Xg.31206599A>CCA412649416DMDc.4478T>G (p.Leu1493Trp)
c.428T>G (p.Leu143Trp)
n.430T>G
c.2252T>G (p.Leu751Trp)
n.1149T>G
n.731T>G
n.1150T>G
n.3124T>G
c.1487T>G (p.Leu496Trp)
c.9632T>G (p.Leu3211Trp)
c.5600T>G (p.Leu1867Trp)
c.305T>G (p.Leu102Trp)
c.371T>G (p.Leu124Trp)
n.562T>G
c.1445T>G (p.Leu482Trp)
c.2720T>G (p.Leu907Trp)
c.9620T>G (p.Leu3207Trp)
c.2T>G (p.Leu1Trp)
c.9617T>G (p.Leu3206Trp)
c.9629T>G (p.Leu3210Trp)
c.9608T>G (p.Leu3203Trp)
c.9263T>G (p.Leu3088Trp)
c.5609T>G (p.Leu1870Trp)
c.9503T>G (p.Leu3168Trp)
c.9494T>G (p.Leu3165Trp)
c.9509T>G (p.Leu3170Trp)
c.3806T>G (p.Leu1269Trp)
 gnomAD v4
Xg.31206599A>GCA412649417DMDc.4478T>C (p.Leu1493Ser)
c.428T>C (p.Leu143Ser)
n.430T>C
c.2252T>C (p.Leu751Ser)
n.1149T>C
n.731T>C
n.1150T>C
n.3124T>C
c.1487T>C (p.Leu496Ser)
c.9632T>C (p.Leu3211Ser)
c.5600T>C (p.Leu1867Ser)
c.305T>C (p.Leu102Ser)
c.371T>C (p.Leu124Ser)
n.562T>C
c.1445T>C (p.Leu482Ser)
c.2720T>C (p.Leu907Ser)
c.9620T>C (p.Leu3207Ser)
c.2T>C (p.Leu1Ser)
c.9617T>C (p.Leu3206Ser)
c.9629T>C (p.Leu3210Ser)
c.9608T>C (p.Leu3203Ser)
c.9263T>C (p.Leu3088Ser)
c.5609T>C (p.Leu1870Ser)
c.9503T>C (p.Leu3168Ser)
c.9494T>C (p.Leu3165Ser)
c.9509T>C (p.Leu3170Ser)
c.3806T>C (p.Leu1269Ser)
Xg.31206599A>TCA412649418DMDc.4478T>A (p.Leu1493Ter)
c.428T>A (p.Leu143Ter)
n.430T>A
c.2252T>A (p.Leu751Ter)
n.1149T>A
n.731T>A
n.1150T>A
n.3124T>A
c.1487T>A (p.Leu496Ter)
c.9632T>A (p.Leu3211Ter)
c.5600T>A (p.Leu1867Ter)
c.305T>A (p.Leu102Ter)
c.371T>A (p.Leu124Ter)
n.562T>A
c.1445T>A (p.Leu482Ter)
c.2720T>A (p.Leu907Ter)
c.9620T>A (p.Leu3207Ter)
c.2T>A (p.Leu1Ter)
c.9617T>A (p.Leu3206Ter)
c.9629T>A (p.Leu3210Ter)
c.9608T>A (p.Leu3203Ter)
c.9263T>A (p.Leu3088Ter)
c.5609T>A (p.Leu1870Ter)
c.9503T>A (p.Leu3168Ter)
c.9494T>A (p.Leu3165Ter)
c.9509T>A (p.Leu3170Ter)
c.3806T>A (p.Leu1269Ter)
Xg.31206600A>CCA412649420DMDc.4477T>G (p.Leu1493Val)
c.427T>G (p.Leu143Val)
n.429T>G
c.2251T>G (p.Leu751Val)
n.1148T>G
n.730T>G
n.1149T>G
n.3123T>G
c.1486T>G (p.Leu496Val)
c.9631T>G (p.Leu3211Val)
c.5599T>G (p.Leu1867Val)
c.304T>G (p.Leu102Val)
c.370T>G (p.Leu124Val)
n.561T>G
c.1444T>G (p.Leu482Val)
c.2719T>G (p.Leu907Val)
c.9619T>G (p.Leu3207Val)
c.1T>G (p.Leu1Val)
c.9616T>G (p.Leu3206Val)
c.9628T>G (p.Leu3210Val)
c.9607T>G (p.Leu3203Val)
c.9262T>G (p.Leu3088Val)
c.5608T>G (p.Leu1870Val)
c.9502T>G (p.Leu3168Val)
c.9493T>G (p.Leu3165Val)
c.9508T>G (p.Leu3170Val)
c.3805T>G (p.Leu1269Val)
Xg.31206600A>GCA515857036DMDc.4477T>C (p.Leu1493=)
c.427T>C (p.Leu143=)
n.429T>C
c.2251T>C (p.Leu751=)
n.1148T>C
n.730T>C
n.1149T>C
n.3123T>C
c.1486T>C (p.Leu496=)
c.9631T>C (p.Leu3211=)
c.5599T>C (p.Leu1867=)
c.304T>C (p.Leu102=)
c.370T>C (p.Leu124=)
n.561T>C
c.1444T>C (p.Leu482=)
c.2719T>C (p.Leu907=)
c.9619T>C (p.Leu3207=)
c.1T>C (p.Leu1=)
c.9616T>C (p.Leu3206=)
c.9628T>C (p.Leu3210=)
c.9607T>C (p.Leu3203=)
c.9262T>C (p.Leu3088=)
c.5608T>C (p.Leu1870=)
c.9502T>C (p.Leu3168=)
c.9493T>C (p.Leu3165=)
c.9508T>C (p.Leu3170=)
c.3805T>C (p.Leu1269=)
Xg.31206600A>TCA412649421DMDc.4477T>A (p.Leu1493Met)
c.427T>A (p.Leu143Met)
n.429T>A
c.2251T>A (p.Leu751Met)
n.1148T>A
n.730T>A
n.1149T>A
n.3123T>A
c.1486T>A (p.Leu496Met)
c.9631T>A (p.Leu3211Met)
c.5599T>A (p.Leu1867Met)
c.304T>A (p.Leu102Met)
c.370T>A (p.Leu124Met)
n.561T>A
c.1444T>A (p.Leu482Met)
c.2719T>A (p.Leu907Met)
c.9619T>A (p.Leu3207Met)
c.1T>A (p.Leu1Met)
c.9616T>A (p.Leu3206Met)
c.9628T>A (p.Leu3210Met)
c.9607T>A (p.Leu3203Met)
c.9262T>A (p.Leu3088Met)
c.5608T>A (p.Leu1870Met)
c.9502T>A (p.Leu3168Met)
c.9493T>A (p.Leu3165Met)
c.9508T>A (p.Leu3170Met)
c.3805T>A (p.Leu1269Met)
Xg.31206601A>CCA412649423DMDc.4476T>G (p.His1492Gln)
c.426T>G (p.His142Gln)
n.428T>G
c.2250T>G (p.His750Gln)
n.1147T>G
n.729T>G
n.1148T>G
n.3122T>G
c.1485T>G (p.His495Gln)
c.9630T>G (p.His3210Gln)
c.5598T>G (p.His1866Gln)
c.303T>G (p.His101Gln)
c.369T>G (p.His123Gln)
n.560T>G
c.1443T>G (p.His481Gln)
c.2718T>G (p.His906Gln)
c.9618T>G (p.His3206Gln)
c.9615T>G (p.His3205Gln)
c.9627T>G (p.His3209Gln)
c.9606T>G (p.His3202Gln)
c.9261T>G (p.His3087Gln)
c.5607T>G (p.His1869Gln)
c.9501T>G (p.His3167Gln)
c.9492T>G (p.His3164Gln)
c.9507T>G (p.His3169Gln)
c.3804T>G (p.His1268Gln)
Xg.31206601A>GCA515857037DMDc.4476T>C (p.His1492=)
c.426T>C (p.His142=)
n.428T>C
c.2250T>C (p.His750=)
n.1147T>C
n.729T>C
n.1148T>C
n.3122T>C
c.1485T>C (p.His495=)
c.9630T>C (p.His3210=)
c.5598T>C (p.His1866=)
c.303T>C (p.His101=)
c.369T>C (p.His123=)
n.560T>C
c.1443T>C (p.His481=)
c.2718T>C (p.His906=)
c.9618T>C (p.His3206=)
c.9615T>C (p.His3205=)
c.9627T>C (p.His3209=)
c.9606T>C (p.His3202=)
c.9261T>C (p.His3087=)
c.5607T>C (p.His1869=)
c.9501T>C (p.His3167=)
c.9492T>C (p.His3164=)
c.9507T>C (p.His3169=)
c.3804T>C (p.His1268=)
Xg.31206601A>TCA412649425DMDc.4476T>A (p.His1492Gln)
c.426T>A (p.His142Gln)
n.428T>A
c.2250T>A (p.His750Gln)
n.1147T>A
n.729T>A
n.1148T>A
n.3122T>A
c.1485T>A (p.His495Gln)
c.9630T>A (p.His3210Gln)
c.5598T>A (p.His1866Gln)
c.303T>A (p.His101Gln)
c.369T>A (p.His123Gln)
n.560T>A
c.1443T>A (p.His481Gln)
c.2718T>A (p.His906Gln)
c.9618T>A (p.His3206Gln)
c.9615T>A (p.His3205Gln)
c.9627T>A (p.His3209Gln)
c.9606T>A (p.His3202Gln)
c.9261T>A (p.His3087Gln)
c.5607T>A (p.His1869Gln)
c.9501T>A (p.His3167Gln)
c.9492T>A (p.His3164Gln)
c.9507T>A (p.His3169Gln)
c.3804T>A (p.His1268Gln)
Xg.31206602T>ACA412649426DMDc.4475A>T (p.His1492Leu)
c.425A>T (p.His142Leu)
n.427A>T
c.2249A>T (p.His750Leu)
n.1146A>T
n.728A>T
n.1147A>T
n.3121A>T
c.1484A>T (p.His495Leu)
c.9629A>T (p.His3210Leu)
c.5597A>T (p.His1866Leu)
c.302A>T (p.His101Leu)
c.368A>T (p.His123Leu)
n.559A>T
c.1442A>T (p.His481Leu)
c.2717A>T (p.His906Leu)
c.9617A>T (p.His3206Leu)
c.9614A>T (p.His3205Leu)
c.9626A>T (p.His3209Leu)
c.9605A>T (p.His3202Leu)
c.9260A>T (p.His3087Leu)
c.5606A>T (p.His1869Leu)
c.9500A>T (p.His3167Leu)
c.9491A>T (p.His3164Leu)
c.9506A>T (p.His3169Leu)
c.3803A>T (p.His1268Leu)
Xg.31206602T>CCA412649428DMDc.4475A>G (p.His1492Arg)
c.425A>G (p.His142Arg)
n.427A>G
c.2249A>G (p.His750Arg)
n.1146A>G
n.728A>G
n.1147A>G
n.3121A>G
c.1484A>G (p.His495Arg)
c.9629A>G (p.His3210Arg)
c.5597A>G (p.His1866Arg)
c.302A>G (p.His101Arg)
c.368A>G (p.His123Arg)
n.559A>G
c.1442A>G (p.His481Arg)
c.2717A>G (p.His906Arg)
c.9617A>G (p.His3206Arg)
c.9614A>G (p.His3205Arg)
c.9626A>G (p.His3209Arg)
c.9605A>G (p.His3202Arg)
c.9260A>G (p.His3087Arg)
c.5606A>G (p.His1869Arg)
c.9500A>G (p.His3167Arg)
c.9491A>G (p.His3164Arg)
c.9506A>G (p.His3169Arg)
c.3803A>G (p.His1268Arg)
 gnomAD v4
Xg.31206602T>GCA412649431DMDc.4475A>C (p.His1492Pro)
c.425A>C (p.His142Pro)
n.427A>C
c.2249A>C (p.His750Pro)
n.1146A>C
n.728A>C
n.1147A>C
n.3121A>C
c.1484A>C (p.His495Pro)
c.9629A>C (p.His3210Pro)
c.5597A>C (p.His1866Pro)
c.302A>C (p.His101Pro)
c.368A>C (p.His123Pro)
n.559A>C
c.1442A>C (p.His481Pro)
c.2717A>C (p.His906Pro)
c.9617A>C (p.His3206Pro)
c.9614A>C (p.His3205Pro)
c.9626A>C (p.His3209Pro)
c.9605A>C (p.His3202Pro)
c.9260A>C (p.His3087Pro)
c.5606A>C (p.His1869Pro)
c.9500A>C (p.His3167Pro)
c.9491A>C (p.His3164Pro)
c.9506A>C (p.His3169Pro)
c.3803A>C (p.His1268Pro)
Xg.31206603G>ACA10377770DMDc.4474C>T (p.His1492Tyr)
c.424C>T (p.His142Tyr)
n.426C>T
c.2248C>T (p.His750Tyr)
n.1145C>T
n.727C>T
n.1146C>T
n.3120C>T
c.1483C>T (p.His495Tyr)
c.9628C>T (p.His3210Tyr)
c.5596C>T (p.His1866Tyr)
c.301C>T (p.His101Tyr)
c.367C>T (p.His123Tyr)
n.558C>T
c.1441C>T (p.His481Tyr)
c.2716C>T (p.His906Tyr)
c.9616C>T (p.His3206Tyr)
c.9613C>T (p.His3205Tyr)
c.9625C>T (p.His3209Tyr)
c.9604C>T (p.His3202Tyr)
c.9259C>T (p.His3087Tyr)
c.5605C>T (p.His1869Tyr)
c.9499C>T (p.His3167Tyr)
c.9490C>T (p.His3164Tyr)
c.9505C>T (p.His3169Tyr)
c.3802C>T (p.His1268Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31206603G>CCA412649433DMDc.4474C>G (p.His1492Asp)
c.424C>G (p.His142Asp)
n.426C>G
c.2248C>G (p.His750Asp)
n.1145C>G
n.727C>G
n.1146C>G
n.3120C>G
c.1483C>G (p.His495Asp)
c.9628C>G (p.His3210Asp)
c.5596C>G (p.His1866Asp)
c.301C>G (p.His101Asp)
c.367C>G (p.His123Asp)
n.558C>G
c.1441C>G (p.His481Asp)
c.2716C>G (p.His906Asp)
c.9616C>G (p.His3206Asp)
c.9613C>G (p.His3205Asp)
c.9625C>G (p.His3209Asp)
c.9604C>G (p.His3202Asp)
c.9259C>G (p.His3087Asp)
c.5605C>G (p.His1869Asp)
c.9499C>G (p.His3167Asp)
c.9490C>G (p.His3164Asp)
c.9505C>G (p.His3169Asp)
c.3802C>G (p.His1268Asp)
Xg.31206603G=CA2422348453DMDc.4474C= (p.His1492=)
c.424C= (p.His142=)
n.426C=
c.2248C= (p.His750=)
n.1145C=
n.727C=
n.1146C=
n.3120C=
c.1483C= (p.His495=)
c.9628C= (p.His3210=)
c.5596C= (p.His1866=)
c.301C= (p.His101=)
c.367C= (p.His123=)
n.558C=
c.1441C= (p.His481=)
c.2716C= (p.His906=)
c.9616C= (p.His3206=)
c.9613C= (p.His3205=)
c.9625C= (p.His3209=)
c.9604C= (p.His3202=)
c.9259C= (p.His3087=)
c.5605C= (p.His1869=)
c.9499C= (p.His3167=)
c.9490C= (p.His3164=)
c.9505C= (p.His3169=)
c.3802C= (p.His1268=)
Xg.31206603G>TCA412649432DMDc.4474C>A (p.His1492Asn)
c.424C>A (p.His142Asn)
n.426C>A
c.2248C>A (p.His750Asn)
n.1145C>A
n.727C>A
n.1146C>A
n.3120C>A
c.1483C>A (p.His495Asn)
c.9628C>A (p.His3210Asn)
c.5596C>A (p.His1866Asn)
c.301C>A (p.His101Asn)
c.367C>A (p.His123Asn)
n.558C>A
c.1441C>A (p.His481Asn)
c.2716C>A (p.His906Asn)
c.9616C>A (p.His3206Asn)
c.9613C>A (p.His3205Asn)
c.9625C>A (p.His3209Asn)
c.9604C>A (p.His3202Asn)
c.9259C>A (p.His3087Asn)
c.5605C>A (p.His1869Asn)
c.9499C>A (p.His3167Asn)
c.9490C>A (p.His3164Asn)
c.9505C>A (p.His3169Asn)
c.3802C>A (p.His1268Asn)
Xg.31206604T>ACA515857041DMDc.4473A>T (p.Ala1491=)
c.423A>T (p.Ala141=)
n.425A>T
c.2247A>T (p.Ala749=)
n.1144A>T
n.726A>T
n.1145A>T
n.3119A>T
c.1482A>T (p.Ala494=)
c.9627A>T (p.Ala3209=)
c.5595A>T (p.Ala1865=)
c.300A>T (p.Ala100=)
c.366A>T (p.Ala122=)
n.557A>T
c.1440A>T (p.Ala480=)
c.2715A>T (p.Ala905=)
c.9615A>T (p.Ala3205=)
c.9612A>T (p.Ala3204=)
c.9624A>T (p.Ala3208=)
c.9603A>T (p.Ala3201=)
c.9258A>T (p.Ala3086=)
c.5604A>T (p.Ala1868=)
c.9498A>T (p.Ala3166=)
c.9489A>T (p.Ala3163=)
c.9504A>T (p.Ala3168=)
c.3801A>T (p.Ala1267=)
Xg.31206604T>CCA515857040DMDc.4473A>G (p.Ala1491=)
c.423A>G (p.Ala141=)
n.425A>G
c.2247A>G (p.Ala749=)
n.1144A>G
n.726A>G
n.1145A>G
n.3119A>G
c.1482A>G (p.Ala494=)
c.9627A>G (p.Ala3209=)
c.5595A>G (p.Ala1865=)
c.300A>G (p.Ala100=)
c.366A>G (p.Ala122=)
n.557A>G
c.1440A>G (p.Ala480=)
c.2715A>G (p.Ala905=)
c.9615A>G (p.Ala3205=)
c.9612A>G (p.Ala3204=)
c.9624A>G (p.Ala3208=)
c.9603A>G (p.Ala3201=)
c.9258A>G (p.Ala3086=)
c.5604A>G (p.Ala1868=)
c.9498A>G (p.Ala3166=)
c.9489A>G (p.Ala3163=)
c.9504A>G (p.Ala3168=)
c.3801A>G (p.Ala1267=)
 gnomAD v4
Xg.31206604T>GCA515857039DMDc.4473A>C (p.Ala1491=)
c.423A>C (p.Ala141=)
n.425A>C
c.2247A>C (p.Ala749=)
n.1144A>C
n.726A>C
n.1145A>C
n.3119A>C
c.1482A>C (p.Ala494=)
c.9627A>C (p.Ala3209=)
c.5595A>C (p.Ala1865=)
c.300A>C (p.Ala100=)
c.366A>C (p.Ala122=)
n.557A>C
c.1440A>C (p.Ala480=)
c.2715A>C (p.Ala905=)
c.9615A>C (p.Ala3205=)
c.9612A>C (p.Ala3204=)
c.9624A>C (p.Ala3208=)
c.9603A>C (p.Ala3201=)
c.9258A>C (p.Ala3086=)
c.5604A>C (p.Ala1868=)
c.9498A>C (p.Ala3166=)
c.9489A>C (p.Ala3163=)
c.9504A>C (p.Ala3168=)
c.3801A>C (p.Ala1267=)
Xg.31206605G>ACA412649436DMDc.4472C>T (p.Ala1491Val)
c.422C>T (p.Ala141Val)
n.424C>T
c.2246C>T (p.Ala749Val)
n.1143C>T
n.725C>T
n.1144C>T
n.3118C>T
c.1481C>T (p.Ala494Val)
c.9626C>T (p.Ala3209Val)
c.5594C>T (p.Ala1865Val)
c.299C>T (p.Ala100Val)
c.365C>T (p.Ala122Val)
n.556C>T
c.1439C>T (p.Ala480Val)
c.2714C>T (p.Ala905Val)
c.9614C>T (p.Ala3205Val)
c.9611C>T (p.Ala3204Val)
c.9623C>T (p.Ala3208Val)
c.9602C>T (p.Ala3201Val)
c.9257C>T (p.Ala3086Val)
c.5603C>T (p.Ala1868Val)
c.9497C>T (p.Ala3166Val)
c.9488C>T (p.Ala3163Val)
c.9503C>T (p.Ala3168Val)
c.3800C>T (p.Ala1267Val)
Xg.31206605G>CCA412649437DMDc.4472C>G (p.Ala1491Gly)
c.422C>G (p.Ala141Gly)
n.424C>G
c.2246C>G (p.Ala749Gly)
n.1143C>G
n.725C>G
n.1144C>G
n.3118C>G
c.1481C>G (p.Ala494Gly)
c.9626C>G (p.Ala3209Gly)
c.5594C>G (p.Ala1865Gly)
c.299C>G (p.Ala100Gly)
c.365C>G (p.Ala122Gly)
n.556C>G
c.1439C>G (p.Ala480Gly)
c.2714C>G (p.Ala905Gly)
c.9614C>G (p.Ala3205Gly)
c.9611C>G (p.Ala3204Gly)
c.9623C>G (p.Ala3208Gly)
c.9602C>G (p.Ala3201Gly)
c.9257C>G (p.Ala3086Gly)
c.5603C>G (p.Ala1868Gly)
c.9497C>G (p.Ala3166Gly)
c.9488C>G (p.Ala3163Gly)
c.9503C>G (p.Ala3168Gly)
c.3800C>G (p.Ala1267Gly)
Xg.31206605G>TCA412649438DMDc.4472C>A (p.Ala1491Glu)
c.422C>A (p.Ala141Glu)
n.424C>A
c.2246C>A (p.Ala749Glu)
n.1143C>A
n.725C>A
n.1144C>A
n.3118C>A
c.1481C>A (p.Ala494Glu)
c.9626C>A (p.Ala3209Glu)
c.5594C>A (p.Ala1865Glu)
c.299C>A (p.Ala100Glu)
c.365C>A (p.Ala122Glu)
n.556C>A
c.1439C>A (p.Ala480Glu)
c.2714C>A (p.Ala905Glu)
c.9614C>A (p.Ala3205Glu)
c.9611C>A (p.Ala3204Glu)
c.9623C>A (p.Ala3208Glu)
c.9602C>A (p.Ala3201Glu)
c.9257C>A (p.Ala3086Glu)
c.5603C>A (p.Ala1868Glu)
c.9497C>A (p.Ala3166Glu)
c.9488C>A (p.Ala3163Glu)
c.9503C>A (p.Ala3168Glu)
c.3800C>A (p.Ala1267Glu)
Xg.31206605_31206612delCA2580100565DMDc.4465_4472del (p.Cys1489ThrfsTer21)
c.415_422del (p.Cys139ThrfsTer21)
n.417_424del
c.2239_2246del (p.Cys747ThrfsTer21)
n.1136_1143del
n.718_725del
n.1137_1144del
n.3111_3118del
c.1474_1481del (p.Cys492ThrfsTer21)
c.9619_9626del (p.Cys3207ThrfsTer21)
c.5587_5594del (p.Cys1863ThrfsTer21)
c.292_299del (p.Cys98ThrfsTer21)
c.358_365del (p.Cys120ThrfsTer21)
n.549_556del
c.1432_1439del (p.Cys478ThrfsTer21)
c.2707_2714del (p.Cys903ThrfsTer21)
c.9607_9614del (p.Cys3203ThrfsTer21)
c.9604_9611del (p.Cys3202ThrfsTer21)
c.9616_9623del (p.Cys3206ThrfsTer21)
c.9595_9602del (p.Cys3199ThrfsTer21)
c.9250_9257del (p.Cys3084ThrfsTer21)
c.5596_5603del (p.Cys1866ThrfsTer21)
c.9490_9497del (p.Cys3164ThrfsTer21)
c.9481_9488del (p.Cys3161ThrfsTer21)
c.9496_9503del (p.Cys3166ThrfsTer21)
c.3793_3800del (p.Cys1265ThrfsTer21)
 ClinVar
Xg.31206606C>ACA412649440DMDc.4471G>T (p.Ala1491Ser)
c.421G>T (p.Ala141Ser)
n.423G>T
c.2245G>T (p.Ala749Ser)
n.1142G>T
n.724G>T
n.1143G>T
n.3117G>T
c.1480G>T (p.Ala494Ser)
c.9625G>T (p.Ala3209Ser)
c.5593G>T (p.Ala1865Ser)
c.298G>T (p.Ala100Ser)
c.364G>T (p.Ala122Ser)
n.555G>T
c.1438G>T (p.Ala480Ser)
c.2713G>T (p.Ala905Ser)
c.9613G>T (p.Ala3205Ser)
c.9610G>T (p.Ala3204Ser)
c.9622G>T (p.Ala3208Ser)
c.9601G>T (p.Ala3201Ser)
c.9256G>T (p.Ala3086Ser)
c.5602G>T (p.Ala1868Ser)
c.9496G>T (p.Ala3166Ser)
c.9487G>T (p.Ala3163Ser)
c.9502G>T (p.Ala3168Ser)
c.3799G>T (p.Ala1267Ser)
Xg.31206606C>GCA412649441DMDc.4471G>C (p.Ala1491Pro)
c.421G>C (p.Ala141Pro)
n.423G>C
c.2245G>C (p.Ala749Pro)
n.1142G>C
n.724G>C
n.1143G>C
n.3117G>C
c.1480G>C (p.Ala494Pro)
c.9625G>C (p.Ala3209Pro)
c.5593G>C (p.Ala1865Pro)
c.298G>C (p.Ala100Pro)
c.364G>C (p.Ala122Pro)
n.555G>C
c.1438G>C (p.Ala480Pro)
c.2713G>C (p.Ala905Pro)
c.9613G>C (p.Ala3205Pro)
c.9610G>C (p.Ala3204Pro)
c.9622G>C (p.Ala3208Pro)
c.9601G>C (p.Ala3201Pro)
c.9256G>C (p.Ala3086Pro)
c.5602G>C (p.Ala1868Pro)
c.9496G>C (p.Ala3166Pro)
c.9487G>C (p.Ala3163Pro)
c.9502G>C (p.Ala3168Pro)
c.3799G>C (p.Ala1267Pro)
Xg.31206606C>TCA412649443DMDc.4471G>A (p.Ala1491Thr)
c.421G>A (p.Ala141Thr)
n.423G>A
c.2245G>A (p.Ala749Thr)
n.1142G>A
n.724G>A
n.1143G>A
n.3117G>A
c.1480G>A (p.Ala494Thr)
c.9625G>A (p.Ala3209Thr)
c.5593G>A (p.Ala1865Thr)
c.298G>A (p.Ala100Thr)
c.364G>A (p.Ala122Thr)
n.555G>A
c.1438G>A (p.Ala480Thr)
c.2713G>A (p.Ala905Thr)
c.9613G>A (p.Ala3205Thr)
c.9610G>A (p.Ala3204Thr)
c.9622G>A (p.Ala3208Thr)
c.9601G>A (p.Ala3201Thr)
c.9256G>A (p.Ala3086Thr)
c.5602G>A (p.Ala1868Thr)
c.9496G>A (p.Ala3166Thr)
c.9487G>A (p.Ala3163Thr)
c.9502G>A (p.Ala3168Thr)
c.3799G>A (p.Ala1267Thr)
Xg.31206607T>ACA412649445DMDc.4470A>T (p.Lys1490Asn)
c.420A>T (p.Lys140Asn)
n.422A>T
c.2244A>T (p.Lys748Asn)
n.1141A>T
n.723A>T
n.1142A>T
n.3116A>T
c.1479A>T (p.Lys493Asn)
c.9624A>T (p.Lys3208Asn)
c.5592A>T (p.Lys1864Asn)
c.297A>T (p.Lys99Asn)
c.363A>T (p.Lys121Asn)
n.554A>T
c.1437A>T (p.Lys479Asn)
c.2712A>T (p.Lys904Asn)
c.9612A>T (p.Lys3204Asn)
c.9609A>T (p.Lys3203Asn)
c.9621A>T (p.Lys3207Asn)
c.9600A>T (p.Lys3200Asn)
c.9255A>T (p.Lys3085Asn)
c.5601A>T (p.Lys1867Asn)
c.9495A>T (p.Lys3165Asn)
c.9486A>T (p.Lys3162Asn)
c.9501A>T (p.Lys3167Asn)
c.3798A>T (p.Lys1266Asn)
Xg.31206607T>CCA515857042DMDc.4470A>G (p.Lys1490=)
c.420A>G (p.Lys140=)
n.422A>G
c.2244A>G (p.Lys748=)
n.1141A>G
n.723A>G
n.1142A>G
n.3116A>G
c.1479A>G (p.Lys493=)
c.9624A>G (p.Lys3208=)
c.5592A>G (p.Lys1864=)
c.297A>G (p.Lys99=)
c.363A>G (p.Lys121=)
n.554A>G
c.1437A>G (p.Lys479=)
c.2712A>G (p.Lys904=)
c.9612A>G (p.Lys3204=)
c.9609A>G (p.Lys3203=)
c.9621A>G (p.Lys3207=)
c.9600A>G (p.Lys3200=)
c.9255A>G (p.Lys3085=)
c.5601A>G (p.Lys1867=)
c.9495A>G (p.Lys3165=)
c.9486A>G (p.Lys3162=)
c.9501A>G (p.Lys3167=)
c.3798A>G (p.Lys1266=)
Xg.31206607T>GCA412649446DMDc.4470A>C (p.Lys1490Asn)
c.420A>C (p.Lys140Asn)
n.422A>C
c.2244A>C (p.Lys748Asn)
n.1141A>C
n.723A>C
n.1142A>C
n.3116A>C
c.1479A>C (p.Lys493Asn)
c.9624A>C (p.Lys3208Asn)
c.5592A>C (p.Lys1864Asn)
c.297A>C (p.Lys99Asn)
c.363A>C (p.Lys121Asn)
n.554A>C
c.1437A>C (p.Lys479Asn)
c.2712A>C (p.Lys904Asn)
c.9612A>C (p.Lys3204Asn)
c.9609A>C (p.Lys3203Asn)
c.9621A>C (p.Lys3207Asn)
c.9600A>C (p.Lys3200Asn)
c.9255A>C (p.Lys3085Asn)
c.5601A>C (p.Lys1867Asn)
c.9495A>C (p.Lys3165Asn)
c.9486A>C (p.Lys3162Asn)
c.9501A>C (p.Lys3167Asn)
c.3798A>C (p.Lys1266Asn)
Xg.31206609delCA2499226610DMDc.4470del (p.Ala1491HisfsTer?)
c.420del (p.Ala141HisfsTer?)
n.422del
c.2244del (p.Ala749HisfsTer?)
n.1141del
n.723del
n.1142del
n.3116del
c.1479del (p.Ala494HisfsTer?)
c.9624del (p.Ala3209HisfsTer?)
c.5592del (p.Ala1865HisfsTer?)
c.297del (p.Ala100HisfsTer?)
c.363del (p.Ala122HisfsTer?)
n.554del
c.1437del (p.Ala480HisfsTer?)
c.2712del (p.Ala905HisfsTer?)
c.9612del (p.Ala3205HisfsTer?)
c.9609del (p.Ala3204HisfsTer?)
c.9621del (p.Ala3208HisfsTer?)
c.9600del (p.Ala3201HisfsTer?)
c.9255del (p.Ala3086HisfsTer?)
c.5601del (p.Ala1868HisfsTer?)
c.9495del (p.Ala3166HisfsTer?)
c.9486del (p.Ala3163HisfsTer?)
c.9501del (p.Ala3168HisfsTer?)
c.3798del (p.Ala1267HisfsTer?)
 ClinVar dbSNP
Xg.31206608T>ACA412649448DMDc.4469A>T (p.Lys1490Ile)
c.419A>T (p.Lys140Ile)
n.421A>T
c.2243A>T (p.Lys748Ile)
n.1140A>T
n.722A>T
n.1141A>T
n.3115A>T
c.1478A>T (p.Lys493Ile)
c.9623A>T (p.Lys3208Ile)
c.5591A>T (p.Lys1864Ile)
c.296A>T (p.Lys99Ile)
c.362A>T (p.Lys121Ile)
n.553A>T
c.1436A>T (p.Lys479Ile)
c.2711A>T (p.Lys904Ile)
c.9611A>T (p.Lys3204Ile)
c.9608A>T (p.Lys3203Ile)
c.9620A>T (p.Lys3207Ile)
c.9599A>T (p.Lys3200Ile)
c.9254A>T (p.Lys3085Ile)
c.5600A>T (p.Lys1867Ile)
c.9494A>T (p.Lys3165Ile)
c.9485A>T (p.Lys3162Ile)
c.9500A>T (p.Lys3167Ile)
c.3797A>T (p.Lys1266Ile)
Xg.31206608T>CCA412649450DMDc.4469A>G (p.Lys1490Arg)
c.419A>G (p.Lys140Arg)
n.421A>G
c.2243A>G (p.Lys748Arg)
n.1140A>G
n.722A>G
n.1141A>G
n.3115A>G
c.1478A>G (p.Lys493Arg)
c.9623A>G (p.Lys3208Arg)
c.5591A>G (p.Lys1864Arg)
c.296A>G (p.Lys99Arg)
c.362A>G (p.Lys121Arg)
n.553A>G
c.1436A>G (p.Lys479Arg)
c.2711A>G (p.Lys904Arg)
c.9611A>G (p.Lys3204Arg)
c.9608A>G (p.Lys3203Arg)
c.9620A>G (p.Lys3207Arg)
c.9599A>G (p.Lys3200Arg)
c.9254A>G (p.Lys3085Arg)
c.5600A>G (p.Lys1867Arg)
c.9494A>G (p.Lys3165Arg)
c.9485A>G (p.Lys3162Arg)
c.9500A>G (p.Lys3167Arg)
c.3797A>G (p.Lys1266Arg)
Xg.31206608T>GCA412649452DMDc.4469A>C (p.Lys1490Thr)
c.419A>C (p.Lys140Thr)
n.421A>C
c.2243A>C (p.Lys748Thr)
n.1140A>C
n.722A>C
n.1141A>C
n.3115A>C
c.1478A>C (p.Lys493Thr)
c.9623A>C (p.Lys3208Thr)
c.5591A>C (p.Lys1864Thr)
c.296A>C (p.Lys99Thr)
c.362A>C (p.Lys121Thr)
n.553A>C
c.1436A>C (p.Lys479Thr)
c.2711A>C (p.Lys904Thr)
c.9611A>C (p.Lys3204Thr)
c.9608A>C (p.Lys3203Thr)
c.9620A>C (p.Lys3207Thr)
c.9599A>C (p.Lys3200Thr)
c.9254A>C (p.Lys3085Thr)
c.5600A>C (p.Lys1867Thr)
c.9494A>C (p.Lys3165Thr)
c.9485A>C (p.Lys3162Thr)
c.9500A>C (p.Lys3167Thr)
c.3797A>C (p.Lys1266Thr)
Xg.31206609T>ACA412649454DMDc.4468A>T (p.Lys1490Ter)
c.418A>T (p.Lys140Ter)
n.420A>T
c.2242A>T (p.Lys748Ter)
n.1139A>T
n.721A>T
n.1140A>T
n.3114A>T
c.1477A>T (p.Lys493Ter)
c.9622A>T (p.Lys3208Ter)
c.5590A>T (p.Lys1864Ter)
c.295A>T (p.Lys99Ter)
c.361A>T (p.Lys121Ter)
n.552A>T
c.1435A>T (p.Lys479Ter)
c.2710A>T (p.Lys904Ter)
c.9610A>T (p.Lys3204Ter)
c.9607A>T (p.Lys3203Ter)
c.9619A>T (p.Lys3207Ter)
c.9598A>T (p.Lys3200Ter)
c.9253A>T (p.Lys3085Ter)
c.5599A>T (p.Lys1867Ter)
c.9493A>T (p.Lys3165Ter)
c.9484A>T (p.Lys3162Ter)
c.9499A>T (p.Lys3167Ter)
c.3796A>T (p.Lys1266Ter)
Xg.31206609T>CCA412649456DMDc.4468A>G (p.Lys1490Glu)
c.418A>G (p.Lys140Glu)
n.420A>G
c.2242A>G (p.Lys748Glu)
n.1139A>G
n.721A>G
n.1140A>G
n.3114A>G
c.1477A>G (p.Lys493Glu)
c.9622A>G (p.Lys3208Glu)
c.5590A>G (p.Lys1864Glu)
c.295A>G (p.Lys99Glu)
c.361A>G (p.Lys121Glu)
n.552A>G
c.1435A>G (p.Lys479Glu)
c.2710A>G (p.Lys904Glu)
c.9610A>G (p.Lys3204Glu)
c.9607A>G (p.Lys3203Glu)
c.9619A>G (p.Lys3207Glu)
c.9598A>G (p.Lys3200Glu)
c.9253A>G (p.Lys3085Glu)
c.5599A>G (p.Lys1867Glu)
c.9493A>G (p.Lys3165Glu)
c.9484A>G (p.Lys3162Glu)
c.9499A>G (p.Lys3167Glu)
c.3796A>G (p.Lys1266Glu)
 dbSNP
Xg.31206609T>GCA412649453DMDc.4468A>C (p.Lys1490Gln)
c.418A>C (p.Lys140Gln)
n.420A>C
c.2242A>C (p.Lys748Gln)
n.1139A>C
n.721A>C
n.1140A>C
n.3114A>C
c.1477A>C (p.Lys493Gln)
c.9622A>C (p.Lys3208Gln)
c.5590A>C (p.Lys1864Gln)
c.295A>C (p.Lys99Gln)
c.361A>C (p.Lys121Gln)
n.552A>C
c.1435A>C (p.Lys479Gln)
c.2710A>C (p.Lys904Gln)
c.9610A>C (p.Lys3204Gln)
c.9607A>C (p.Lys3203Gln)
c.9619A>C (p.Lys3207Gln)
c.9598A>C (p.Lys3200Gln)
c.9253A>C (p.Lys3085Gln)
c.5599A>C (p.Lys1867Gln)
c.9493A>C (p.Lys3165Gln)
c.9484A>C (p.Lys3162Gln)
c.9499A>C (p.Lys3167Gln)
c.3796A>C (p.Lys1266Gln)
Xg.31206609T=CA2422348454DMDc.4468A= (p.Lys1490=)
c.418A= (p.Lys140=)
n.420A=
c.2242A= (p.Lys748=)
n.1139A=
n.721A=
n.1140A=
n.3114A=
c.1477A= (p.Lys493=)
c.9622A= (p.Lys3208=)
c.5590A= (p.Lys1864=)
c.295A= (p.Lys99=)
c.361A= (p.Lys121=)
n.552A=
c.1435A= (p.Lys479=)
c.2710A= (p.Lys904=)
c.9610A= (p.Lys3204=)
c.9607A= (p.Lys3203=)
c.9619A= (p.Lys3207=)
c.9598A= (p.Lys3200=)
c.9253A= (p.Lys3085=)
c.5599A= (p.Lys1867=)
c.9493A= (p.Lys3165=)
c.9484A= (p.Lys3162=)
c.9499A= (p.Lys3167=)
c.3796A= (p.Lys1266=)
Xg.31206610delCA2695232306DMDc.4467del (p.Cys1489Ter)
c.417del (p.Cys139Ter)
n.419del
c.2241del (p.Cys747Ter)
n.1138del
n.720del
n.1139del
n.3113del
c.1476del (p.Cys492Ter)
c.9621del (p.Cys3207Ter)
c.5589del (p.Cys1863Ter)
c.294del (p.Cys98Ter)
c.360del (p.Cys120Ter)
n.551del
c.1434del (p.Cys478Ter)
c.2709del (p.Cys903Ter)
c.9609del (p.Cys3203Ter)
c.9606del (p.Cys3202Ter)
c.9618del (p.Cys3206Ter)
c.9597del (p.Cys3199Ter)
c.9252del (p.Cys3084Ter)
c.5598del (p.Cys1866Ter)
c.9492del (p.Cys3164Ter)
c.9483del (p.Cys3161Ter)
c.9498del (p.Cys3166Ter)
c.3795del (p.Cys1265Ter)
Xg.31206610A=CA2422348455DMDc.4467T= (p.Cys1489=)
c.417T= (p.Cys139=)
n.419T=
c.2241T= (p.Cys747=)
n.1138T=
n.720T=
n.1139T=
n.3113T=
c.1476T= (p.Cys492=)
c.9621T= (p.Cys3207=)
c.5589T= (p.Cys1863=)
c.294T= (p.Cys98=)
c.360T= (p.Cys120=)
n.551T=
c.1434T= (p.Cys478=)
c.2709T= (p.Cys903=)
c.9609T= (p.Cys3203=)
c.9606T= (p.Cys3202=)
c.9618T= (p.Cys3206=)
c.9597T= (p.Cys3199=)
c.9252T= (p.Cys3084=)
c.5598T= (p.Cys1866=)
c.9492T= (p.Cys3164=)
c.9483T= (p.Cys3161=)
c.9498T= (p.Cys3166=)
c.3795T= (p.Cys1265=)
Xg.31206610A>CCA412649457DMDc.4467T>G (p.Cys1489Trp)
c.417T>G (p.Cys139Trp)
n.419T>G
c.2241T>G (p.Cys747Trp)
n.1138T>G
n.720T>G
n.1139T>G
n.3113T>G
c.1476T>G (p.Cys492Trp)
c.9621T>G (p.Cys3207Trp)
c.5589T>G (p.Cys1863Trp)
c.294T>G (p.Cys98Trp)
c.360T>G (p.Cys120Trp)
n.551T>G
c.1434T>G (p.Cys478Trp)
c.2709T>G (p.Cys903Trp)
c.9609T>G (p.Cys3203Trp)
c.9606T>G (p.Cys3202Trp)
c.9618T>G (p.Cys3206Trp)
c.9597T>G (p.Cys3199Trp)
c.9252T>G (p.Cys3084Trp)
c.5598T>G (p.Cys1866Trp)
c.9492T>G (p.Cys3164Trp)
c.9483T>G (p.Cys3161Trp)
c.9498T>G (p.Cys3166Trp)
c.3795T>G (p.Cys1265Trp)
Xg.31206610A>GCA16608424DMDc.4467T>C (p.Cys1489=)
c.417T>C (p.Cys139=)
n.419T>C
c.2241T>C (p.Cys747=)
n.1138T>C
n.720T>C
n.1139T>C
n.3113T>C
c.1476T>C (p.Cys492=)
c.9621T>C (p.Cys3207=)
c.5589T>C (p.Cys1863=)
c.294T>C (p.Cys98=)
c.360T>C (p.Cys120=)
n.551T>C
c.1434T>C (p.Cys478=)
c.2709T>C (p.Cys903=)
c.9609T>C (p.Cys3203=)
c.9606T>C (p.Cys3202=)
c.9618T>C (p.Cys3206=)
c.9597T>C (p.Cys3199=)
c.9252T>C (p.Cys3084=)
c.5598T>C (p.Cys1866=)
c.9492T>C (p.Cys3164=)
c.9483T>C (p.Cys3161=)
c.9498T>C (p.Cys3166=)
c.3795T>C (p.Cys1265=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31206610A>TCA16616655DMDc.4467T>A (p.Cys1489Ter)
c.417T>A (p.Cys139Ter)
n.419T>A
c.2241T>A (p.Cys747Ter)
n.1138T>A
n.720T>A
n.1139T>A
n.3113T>A
c.1476T>A (p.Cys492Ter)
c.9621T>A (p.Cys3207Ter)
c.5589T>A (p.Cys1863Ter)
c.294T>A (p.Cys98Ter)
c.360T>A (p.Cys120Ter)
n.551T>A
c.1434T>A (p.Cys478Ter)
c.2709T>A (p.Cys903Ter)
c.9609T>A (p.Cys3203Ter)
c.9606T>A (p.Cys3202Ter)
c.9618T>A (p.Cys3206Ter)
c.9597T>A (p.Cys3199Ter)
c.9252T>A (p.Cys3084Ter)
c.5598T>A (p.Cys1866Ter)
c.9492T>A (p.Cys3164Ter)
c.9483T>A (p.Cys3161Ter)
c.9498T>A (p.Cys3166Ter)
c.3795T>A (p.Cys1265Ter)
 ClinVar dbSNP
Xg.31206611C>ACA412649459DMDc.4466G>T (p.Cys1489Phe)
c.416G>T (p.Cys139Phe)
n.418G>T
c.2240G>T (p.Cys747Phe)
n.1137G>T
n.719G>T
n.1138G>T
n.3112G>T
c.1475G>T (p.Cys492Phe)
c.9620G>T (p.Cys3207Phe)
c.5588G>T (p.Cys1863Phe)
c.293G>T (p.Cys98Phe)
c.359G>T (p.Cys120Phe)
n.550G>T
c.1433G>T (p.Cys478Phe)
c.2708G>T (p.Cys903Phe)
c.9608G>T (p.Cys3203Phe)
c.9605G>T (p.Cys3202Phe)
c.9617G>T (p.Cys3206Phe)
c.9596G>T (p.Cys3199Phe)
c.9251G>T (p.Cys3084Phe)
c.5597G>T (p.Cys1866Phe)
c.9491G>T (p.Cys3164Phe)
c.9482G>T (p.Cys3161Phe)
c.9497G>T (p.Cys3166Phe)
c.3794G>T (p.Cys1265Phe)
Xg.31206611C>GCA412649460DMDc.4466G>C (p.Cys1489Ser)
c.416G>C (p.Cys139Ser)
n.418G>C
c.2240G>C (p.Cys747Ser)
n.1137G>C
n.719G>C
n.1138G>C
n.3112G>C
c.1475G>C (p.Cys492Ser)
c.9620G>C (p.Cys3207Ser)
c.5588G>C (p.Cys1863Ser)
c.293G>C (p.Cys98Ser)
c.359G>C (p.Cys120Ser)
n.550G>C
c.1433G>C (p.Cys478Ser)
c.2708G>C (p.Cys903Ser)
c.9608G>C (p.Cys3203Ser)
c.9605G>C (p.Cys3202Ser)
c.9617G>C (p.Cys3206Ser)
c.9596G>C (p.Cys3199Ser)
c.9251G>C (p.Cys3084Ser)
c.5597G>C (p.Cys1866Ser)
c.9491G>C (p.Cys3164Ser)
c.9482G>C (p.Cys3161Ser)
c.9497G>C (p.Cys3166Ser)
c.3794G>C (p.Cys1265Ser)
Xg.31206611C>TCA412649461DMDc.4466G>A (p.Cys1489Tyr)
c.416G>A (p.Cys139Tyr)
n.418G>A
c.2240G>A (p.Cys747Tyr)
n.1137G>A
n.719G>A
n.1138G>A
n.3112G>A
c.1475G>A (p.Cys492Tyr)
c.9620G>A (p.Cys3207Tyr)
c.5588G>A (p.Cys1863Tyr)
c.293G>A (p.Cys98Tyr)
c.359G>A (p.Cys120Tyr)
n.550G>A
c.1433G>A (p.Cys478Tyr)
c.2708G>A (p.Cys903Tyr)
c.9608G>A (p.Cys3203Tyr)
c.9605G>A (p.Cys3202Tyr)
c.9617G>A (p.Cys3206Tyr)
c.9596G>A (p.Cys3199Tyr)
c.9251G>A (p.Cys3084Tyr)
c.5597G>A (p.Cys1866Tyr)
c.9491G>A (p.Cys3164Tyr)
c.9482G>A (p.Cys3161Tyr)
c.9497G>A (p.Cys3166Tyr)
c.3794G>A (p.Cys1265Tyr)
Xg.31206612A>CCA412649466DMDc.4465T>G (p.Cys1489Gly)
c.415T>G (p.Cys139Gly)
n.417T>G
c.2239T>G (p.Cys747Gly)
n.1136T>G
n.718T>G
n.1137T>G
n.3111T>G
c.1474T>G (p.Cys492Gly)
c.9619T>G (p.Cys3207Gly)
c.5587T>G (p.Cys1863Gly)
c.292T>G (p.Cys98Gly)
c.358T>G (p.Cys120Gly)
n.549T>G
c.1432T>G (p.Cys478Gly)
c.2707T>G (p.Cys903Gly)
c.9607T>G (p.Cys3203Gly)
c.9604T>G (p.Cys3202Gly)
c.9616T>G (p.Cys3206Gly)
c.9595T>G (p.Cys3199Gly)
c.9250T>G (p.Cys3084Gly)
c.5596T>G (p.Cys1866Gly)
c.9490T>G (p.Cys3164Gly)
c.9481T>G (p.Cys3161Gly)
c.9496T>G (p.Cys3166Gly)
c.3793T>G (p.Cys1265Gly)
Xg.31206612A>GCA412649463DMDc.4465T>C (p.Cys1489Arg)
c.415T>C (p.Cys139Arg)
n.417T>C
c.2239T>C (p.Cys747Arg)
n.1136T>C
n.718T>C
n.1137T>C
n.3111T>C
c.1474T>C (p.Cys492Arg)
c.9619T>C (p.Cys3207Arg)
c.5587T>C (p.Cys1863Arg)
c.292T>C (p.Cys98Arg)
c.358T>C (p.Cys120Arg)
n.549T>C
c.1432T>C (p.Cys478Arg)
c.2707T>C (p.Cys903Arg)
c.9607T>C (p.Cys3203Arg)
c.9604T>C (p.Cys3202Arg)
c.9616T>C (p.Cys3206Arg)
c.9595T>C (p.Cys3199Arg)
c.9250T>C (p.Cys3084Arg)
c.5596T>C (p.Cys1866Arg)
c.9490T>C (p.Cys3164Arg)
c.9481T>C (p.Cys3161Arg)
c.9496T>C (p.Cys3166Arg)
c.3793T>C (p.Cys1265Arg)
 dbSNP
Xg.31206612A>TCA412649464DMDc.4465T>A (p.Cys1489Ser)
c.415T>A (p.Cys139Ser)
n.417T>A
c.2239T>A (p.Cys747Ser)
n.1136T>A
n.718T>A
n.1137T>A
n.3111T>A
c.1474T>A (p.Cys492Ser)
c.9619T>A (p.Cys3207Ser)
c.5587T>A (p.Cys1863Ser)
c.292T>A (p.Cys98Ser)
c.358T>A (p.Cys120Ser)
n.549T>A
c.1432T>A (p.Cys478Ser)
c.2707T>A (p.Cys903Ser)
c.9607T>A (p.Cys3203Ser)
c.9604T>A (p.Cys3202Ser)
c.9616T>A (p.Cys3206Ser)
c.9595T>A (p.Cys3199Ser)
c.9250T>A (p.Cys3084Ser)
c.5596T>A (p.Cys1866Ser)
c.9490T>A (p.Cys3164Ser)
c.9481T>A (p.Cys3161Ser)
c.9496T>A (p.Cys3166Ser)
c.3793T>A (p.Cys1265Ser)
Xg.31206613delCA2695232308DMDc.4464del (p.Cys1489ValfsTer?)
c.414del (p.Cys139ValfsTer?)
n.416del
c.2238del (p.Cys747ValfsTer?)
n.1135del
n.717del
n.1136del
n.3110del
c.1473del (p.Cys492ValfsTer?)
c.9618del (p.Cys3207ValfsTer?)
c.5586del (p.Cys1863ValfsTer?)
c.291del (p.Cys98ValfsTer?)
c.357del (p.Cys120ValfsTer?)
n.548del
c.1431del (p.Cys478ValfsTer?)
c.2706del (p.Cys903ValfsTer?)
c.9606del (p.Cys3203ValfsTer?)
c.9603del (p.Cys3202ValfsTer?)
c.9615del (p.Cys3206ValfsTer?)
c.9594del (p.Cys3199ValfsTer?)
c.9249del (p.Cys3084ValfsTer?)
c.5595del (p.Cys1866ValfsTer?)
c.9489del (p.Cys3164ValfsTer?)
c.9480del (p.Cys3161ValfsTer?)
c.9495del (p.Cys3166ValfsTer?)
c.3792del (p.Cys1265ValfsTer?)
Xg.31206613C>ACA515857044DMDc.4464G>T (p.Leu1488=)
c.414G>T (p.Leu138=)
n.416G>T
c.2238G>T (p.Leu746=)
n.1135G>T
n.717G>T
n.1136G>T
n.3110G>T
c.1473G>T (p.Leu491=)
c.9618G>T (p.Leu3206=)
c.5586G>T (p.Leu1862=)
c.291G>T (p.Leu97=)
c.357G>T (p.Leu119=)
n.548G>T
c.1431G>T (p.Leu477=)
c.2706G>T (p.Leu902=)
c.9606G>T (p.Leu3202=)
c.9603G>T (p.Leu3201=)
c.9615G>T (p.Leu3205=)
c.9594G>T (p.Leu3198=)
c.9249G>T (p.Leu3083=)
c.5595G>T (p.Leu1865=)
c.9489G>T (p.Leu3163=)
c.9480G>T (p.Leu3160=)
c.9495G>T (p.Leu3165=)
c.3792G>T (p.Leu1264=)
Xg.31206613C>GCA515857045DMDc.4464G>C (p.Leu1488=)
c.414G>C (p.Leu138=)
n.416G>C
c.2238G>C (p.Leu746=)
n.1135G>C
n.717G>C
n.1136G>C
n.3110G>C
c.1473G>C (p.Leu491=)
c.9618G>C (p.Leu3206=)
c.5586G>C (p.Leu1862=)
c.291G>C (p.Leu97=)
c.357G>C (p.Leu119=)
n.548G>C
c.1431G>C (p.Leu477=)
c.2706G>C (p.Leu902=)
c.9606G>C (p.Leu3202=)
c.9603G>C (p.Leu3201=)
c.9615G>C (p.Leu3205=)
c.9594G>C (p.Leu3198=)
c.9249G>C (p.Leu3083=)
c.5595G>C (p.Leu1865=)
c.9489G>C (p.Leu3163=)
c.9480G>C (p.Leu3160=)
c.9495G>C (p.Leu3165=)
c.3792G>C (p.Leu1264=)
Xg.31206613C>TCA515857046DMDc.4464G>A (p.Leu1488=)
c.414G>A (p.Leu138=)
n.416G>A
c.2238G>A (p.Leu746=)
n.1135G>A
n.717G>A
n.1136G>A
n.3110G>A
c.1473G>A (p.Leu491=)
c.9618G>A (p.Leu3206=)
c.5586G>A (p.Leu1862=)
c.291G>A (p.Leu97=)
c.357G>A (p.Leu119=)
n.548G>A
c.1431G>A (p.Leu477=)
c.2706G>A (p.Leu902=)
c.9606G>A (p.Leu3202=)
c.9603G>A (p.Leu3201=)
c.9615G>A (p.Leu3205=)
c.9594G>A (p.Leu3198=)
c.9249G>A (p.Leu3083=)
c.5595G>A (p.Leu1865=)
c.9489G>A (p.Leu3163=)
c.9480G>A (p.Leu3160=)
c.9495G>A (p.Leu3165=)
c.3792G>A (p.Leu1264=)
 gnomAD v4
Xg.31206614A>CCA412649468DMDc.4463T>G (p.Leu1488Arg)
c.413T>G (p.Leu138Arg)
n.415T>G
c.2237T>G (p.Leu746Arg)
n.1134T>G
n.716T>G
n.1135T>G
n.3109T>G
c.1472T>G (p.Leu491Arg)
c.9617T>G (p.Leu3206Arg)
c.5585T>G (p.Leu1862Arg)
c.290T>G (p.Leu97Arg)
c.356T>G (p.Leu119Arg)
n.547T>G
c.1430T>G (p.Leu477Arg)
c.2705T>G (p.Leu902Arg)
c.9605T>G (p.Leu3202Arg)
c.9602T>G (p.Leu3201Arg)
c.9614T>G (p.Leu3205Arg)
c.9593T>G (p.Leu3198Arg)
c.9248T>G (p.Leu3083Arg)
c.5594T>G (p.Leu1865Arg)
c.9488T>G (p.Leu3163Arg)
c.9479T>G (p.Leu3160Arg)
c.9494T>G (p.Leu3165Arg)
c.3791T>G (p.Leu1264Arg)
 ClinVar dbSNP
Xg.31206614A>GCA412649470DMDc.4463T>C (p.Leu1488Pro)
c.413T>C (p.Leu138Pro)
n.415T>C
c.2237T>C (p.Leu746Pro)
n.1134T>C
n.716T>C
n.1135T>C
n.3109T>C
c.1472T>C (p.Leu491Pro)
c.9617T>C (p.Leu3206Pro)
c.5585T>C (p.Leu1862Pro)
c.290T>C (p.Leu97Pro)
c.356T>C (p.Leu119Pro)
n.547T>C
c.1430T>C (p.Leu477Pro)
c.2705T>C (p.Leu902Pro)
c.9605T>C (p.Leu3202Pro)
c.9602T>C (p.Leu3201Pro)
c.9614T>C (p.Leu3205Pro)
c.9593T>C (p.Leu3198Pro)
c.9248T>C (p.Leu3083Pro)
c.5594T>C (p.Leu1865Pro)
c.9488T>C (p.Leu3163Pro)
c.9479T>C (p.Leu3160Pro)
c.9494T>C (p.Leu3165Pro)
c.3791T>C (p.Leu1264Pro)
Xg.31206614A>TCA412649471DMDc.4463T>A (p.Leu1488Gln)
c.413T>A (p.Leu138Gln)
n.415T>A
c.2237T>A (p.Leu746Gln)
n.1134T>A
n.716T>A
n.1135T>A
n.3109T>A
c.1472T>A (p.Leu491Gln)
c.9617T>A (p.Leu3206Gln)
c.5585T>A (p.Leu1862Gln)
c.290T>A (p.Leu97Gln)
c.356T>A (p.Leu119Gln)
n.547T>A
c.1430T>A (p.Leu477Gln)
c.2705T>A (p.Leu902Gln)
c.9605T>A (p.Leu3202Gln)
c.9602T>A (p.Leu3201Gln)
c.9614T>A (p.Leu3205Gln)
c.9593T>A (p.Leu3198Gln)
c.9248T>A (p.Leu3083Gln)
c.5594T>A (p.Leu1865Gln)
c.9488T>A (p.Leu3163Gln)
c.9479T>A (p.Leu3160Gln)
c.9494T>A (p.Leu3165Gln)
c.3791T>A (p.Leu1264Gln)
Xg.31206615G>ACA515857047DMDc.4462C>T (p.Leu1488=)
c.412C>T (p.Leu138=)
n.414C>T
c.2236C>T (p.Leu746=)
n.1133C>T
n.715C>T
n.1134C>T
n.3108C>T
c.1471C>T (p.Leu491=)
c.9616C>T (p.Leu3206=)
c.5584C>T (p.Leu1862=)
c.289C>T (p.Leu97=)
c.355C>T (p.Leu119=)
n.546C>T
c.1429C>T (p.Leu477=)
c.2704C>T (p.Leu902=)
c.9604C>T (p.Leu3202=)
c.9601C>T (p.Leu3201=)
c.9613C>T (p.Leu3205=)
c.9592C>T (p.Leu3198=)
c.9247C>T (p.Leu3083=)
c.5593C>T (p.Leu1865=)
c.9487C>T (p.Leu3163=)
c.9478C>T (p.Leu3160=)
c.9493C>T (p.Leu3165=)
c.3790C>T (p.Leu1264=)
 ClinVar
Xg.31206615G>CCA412649473DMDc.4462C>G (p.Leu1488Val)
c.412C>G (p.Leu138Val)
n.414C>G
c.2236C>G (p.Leu746Val)
n.1133C>G
n.715C>G
n.1134C>G
n.3108C>G
c.1471C>G (p.Leu491Val)
c.9616C>G (p.Leu3206Val)
c.5584C>G (p.Leu1862Val)
c.289C>G (p.Leu97Val)
c.355C>G (p.Leu119Val)
n.546C>G
c.1429C>G (p.Leu477Val)
c.2704C>G (p.Leu902Val)
c.9604C>G (p.Leu3202Val)
c.9601C>G (p.Leu3201Val)
c.9613C>G (p.Leu3205Val)
c.9592C>G (p.Leu3198Val)
c.9247C>G (p.Leu3083Val)
c.5593C>G (p.Leu1865Val)
c.9487C>G (p.Leu3163Val)
c.9478C>G (p.Leu3160Val)
c.9493C>G (p.Leu3165Val)
c.3790C>G (p.Leu1264Val)
Xg.31206615G>TCA412649474DMDc.4462C>A (p.Leu1488Met)
c.412C>A (p.Leu138Met)
n.414C>A
c.2236C>A (p.Leu746Met)
n.1133C>A
n.715C>A
n.1134C>A
n.3108C>A
c.1471C>A (p.Leu491Met)
c.9616C>A (p.Leu3206Met)
c.5584C>A (p.Leu1862Met)
c.289C>A (p.Leu97Met)
c.355C>A (p.Leu119Met)
n.546C>A
c.1429C>A (p.Leu477Met)
c.2704C>A (p.Leu902Met)
c.9604C>A (p.Leu3202Met)
c.9601C>A (p.Leu3201Met)
c.9613C>A (p.Leu3205Met)
c.9592C>A (p.Leu3198Met)
c.9247C>A (p.Leu3083Met)
c.5593C>A (p.Leu1865Met)
c.9487C>A (p.Leu3163Met)
c.9478C>A (p.Leu3160Met)
c.9493C>A (p.Leu3165Met)
c.3790C>A (p.Leu1264Met)
Xg.31206616G>ACA515857049DMDc.4461C>T (p.Ser1487=)
c.411C>T (p.Ser137=)
n.413C>T
c.2235C>T (p.Ser745=)
n.1132C>T
n.714C>T
n.1133C>T
n.3107C>T
c.1470C>T (p.Ser490=)
c.9615C>T (p.Ser3205=)
c.5583C>T (p.Ser1861=)
c.288C>T (p.Ser96=)
c.354C>T (p.Ser118=)
n.545C>T
c.1428C>T (p.Ser476=)
c.2703C>T (p.Ser901=)
c.9603C>T (p.Ser3201=)
c.9600C>T (p.Ser3200=)
c.9612C>T (p.Ser3204=)
c.9591C>T (p.Ser3197=)
c.9246C>T (p.Ser3082=)
c.5592C>T (p.Ser1864=)
c.9486C>T (p.Ser3162=)
c.9477C>T (p.Ser3159=)
c.9492C>T (p.Ser3164=)
c.3789C>T (p.Ser1263=)
Xg.31206616G>CCA515857050DMDc.4461C>G (p.Ser1487=)
c.411C>G (p.Ser137=)
n.413C>G
c.2235C>G (p.Ser745=)
n.1132C>G
n.714C>G
n.1133C>G
n.3107C>G
c.1470C>G (p.Ser490=)
c.9615C>G (p.Ser3205=)
c.5583C>G (p.Ser1861=)
c.288C>G (p.Ser96=)
c.354C>G (p.Ser118=)
n.545C>G
c.1428C>G (p.Ser476=)
c.2703C>G (p.Ser901=)
c.9603C>G (p.Ser3201=)
c.9600C>G (p.Ser3200=)
c.9612C>G (p.Ser3204=)
c.9591C>G (p.Ser3197=)
c.9246C>G (p.Ser3082=)
c.5592C>G (p.Ser1864=)
c.9486C>G (p.Ser3162=)
c.9477C>G (p.Ser3159=)
c.9492C>G (p.Ser3164=)
c.3789C>G (p.Ser1263=)
Xg.31206616G>TCA515857051DMDc.4461C>A (p.Ser1487=)
c.411C>A (p.Ser137=)
n.413C>A
c.2235C>A (p.Ser745=)
n.1132C>A
n.714C>A
n.1133C>A
n.3107C>A
c.1470C>A (p.Ser490=)
c.9615C>A (p.Ser3205=)
c.5583C>A (p.Ser1861=)
c.288C>A (p.Ser96=)
c.354C>A (p.Ser118=)
n.545C>A
c.1428C>A (p.Ser476=)
c.2703C>A (p.Ser901=)
c.9603C>A (p.Ser3201=)
c.9600C>A (p.Ser3200=)
c.9612C>A (p.Ser3204=)
c.9591C>A (p.Ser3197=)
c.9246C>A (p.Ser3082=)
c.5592C>A (p.Ser1864=)
c.9486C>A (p.Ser3162=)
c.9477C>A (p.Ser3159=)
c.9492C>A (p.Ser3164=)
c.3789C>A (p.Ser1263=)
Xg.31206617G>ACA412649475DMDc.4460C>T (p.Ser1487Phe)
c.410C>T (p.Ser137Phe)
n.412C>T
c.2234C>T (p.Ser745Phe)
n.1131C>T
n.713C>T
n.1132C>T
n.3106C>T
c.1469C>T (p.Ser490Phe)
c.9614C>T (p.Ser3205Phe)
c.5582C>T (p.Ser1861Phe)
c.287C>T (p.Ser96Phe)
c.353C>T (p.Ser118Phe)
n.544C>T
c.1427C>T (p.Ser476Phe)
c.2702C>T (p.Ser901Phe)
c.9602C>T (p.Ser3201Phe)
c.9599C>T (p.Ser3200Phe)
c.9611C>T (p.Ser3204Phe)
c.9590C>T (p.Ser3197Phe)
c.9245C>T (p.Ser3082Phe)
c.5591C>T (p.Ser1864Phe)
c.9485C>T (p.Ser3162Phe)
c.9476C>T (p.Ser3159Phe)
c.9491C>T (p.Ser3164Phe)
c.3788C>T (p.Ser1263Phe)
Xg.31206617G>CCA412649478DMDc.4460C>G (p.Ser1487Cys)
c.410C>G (p.Ser137Cys)
n.412C>G
c.2234C>G (p.Ser745Cys)
n.1131C>G
n.713C>G
n.1132C>G
n.3106C>G
c.1469C>G (p.Ser490Cys)
c.9614C>G (p.Ser3205Cys)
c.5582C>G (p.Ser1861Cys)
c.287C>G (p.Ser96Cys)
c.353C>G (p.Ser118Cys)
n.544C>G
c.1427C>G (p.Ser476Cys)
c.2702C>G (p.Ser901Cys)
c.9602C>G (p.Ser3201Cys)
c.9599C>G (p.Ser3200Cys)
c.9611C>G (p.Ser3204Cys)
c.9590C>G (p.Ser3197Cys)
c.9245C>G (p.Ser3082Cys)
c.5591C>G (p.Ser1864Cys)
c.9485C>G (p.Ser3162Cys)
c.9476C>G (p.Ser3159Cys)
c.9491C>G (p.Ser3164Cys)
c.3788C>G (p.Ser1263Cys)
Xg.31206617G=CA2422348456DMDc.4460C= (p.Ser1487=)
c.410C= (p.Ser137=)
n.412C=
c.2234C= (p.Ser745=)
n.1131C=
n.713C=
n.1132C=
n.3106C=
c.1469C= (p.Ser490=)
c.9614C= (p.Ser3205=)
c.5582C= (p.Ser1861=)
c.287C= (p.Ser96=)
c.353C= (p.Ser118=)
n.544C=
c.1427C= (p.Ser476=)
c.2702C= (p.Ser901=)
c.9602C= (p.Ser3201=)
c.9599C= (p.Ser3200=)
c.9611C= (p.Ser3204=)
c.9590C= (p.Ser3197=)
c.9245C= (p.Ser3082=)
c.5591C= (p.Ser1864=)
c.9485C= (p.Ser3162=)
c.9476C= (p.Ser3159=)
c.9491C= (p.Ser3164=)
c.3788C= (p.Ser1263=)
Xg.31206617G>TCA412649476DMDc.4460C>A (p.Ser1487Tyr)
c.410C>A (p.Ser137Tyr)
n.412C>A
c.2234C>A (p.Ser745Tyr)
n.1131C>A
n.713C>A
n.1132C>A
n.3106C>A
c.1469C>A (p.Ser490Tyr)
c.9614C>A (p.Ser3205Tyr)
c.5582C>A (p.Ser1861Tyr)
c.287C>A (p.Ser96Tyr)
c.353C>A (p.Ser118Tyr)
n.544C>A
c.1427C>A (p.Ser476Tyr)
c.2702C>A (p.Ser901Tyr)
c.9602C>A (p.Ser3201Tyr)
c.9599C>A (p.Ser3200Tyr)
c.9611C>A (p.Ser3204Tyr)
c.9590C>A (p.Ser3197Tyr)
c.9245C>A (p.Ser3082Tyr)
c.5591C>A (p.Ser1864Tyr)
c.9485C>A (p.Ser3162Tyr)
c.9476C>A (p.Ser3159Tyr)
c.9491C>A (p.Ser3164Tyr)
c.3788C>A (p.Ser1263Tyr)
 dbSNP gnomAD v3 gnomAD v4
Xg.31206618A>CCA412649479DMDc.4459T>G (p.Ser1487Ala)
c.409T>G (p.Ser137Ala)
n.411T>G
c.2233T>G (p.Ser745Ala)
n.1130T>G
n.712T>G
n.1131T>G
n.3105T>G
c.1468T>G (p.Ser490Ala)
c.9613T>G (p.Ser3205Ala)
c.5581T>G (p.Ser1861Ala)
c.286T>G (p.Ser96Ala)
c.352T>G (p.Ser118Ala)
n.543T>G
c.1426T>G (p.Ser476Ala)
c.2701T>G (p.Ser901Ala)
c.9601T>G (p.Ser3201Ala)
c.9598T>G (p.Ser3200Ala)
c.9610T>G (p.Ser3204Ala)
c.9589T>G (p.Ser3197Ala)
c.9244T>G (p.Ser3082Ala)
c.5590T>G (p.Ser1864Ala)
c.9484T>G (p.Ser3162Ala)
c.9475T>G (p.Ser3159Ala)
c.9490T>G (p.Ser3164Ala)
c.3787T>G (p.Ser1263Ala)
Xg.31206618A>GCA412649480DMDc.4459T>C (p.Ser1487Pro)
c.409T>C (p.Ser137Pro)
n.411T>C
c.2233T>C (p.Ser745Pro)
n.1130T>C
n.712T>C
n.1131T>C
n.3105T>C
c.1468T>C (p.Ser490Pro)
c.9613T>C (p.Ser3205Pro)
c.5581T>C (p.Ser1861Pro)
c.286T>C (p.Ser96Pro)
c.352T>C (p.Ser118Pro)
n.543T>C
c.1426T>C (p.Ser476Pro)
c.2701T>C (p.Ser901Pro)
c.9601T>C (p.Ser3201Pro)
c.9598T>C (p.Ser3200Pro)
c.9610T>C (p.Ser3204Pro)
c.9589T>C (p.Ser3197Pro)
c.9244T>C (p.Ser3082Pro)
c.5590T>C (p.Ser1864Pro)
c.9484T>C (p.Ser3162Pro)
c.9475T>C (p.Ser3159Pro)
c.9490T>C (p.Ser3164Pro)
c.3787T>C (p.Ser1263Pro)
Xg.31206618A>TCA412649483DMDc.4459T>A (p.Ser1487Thr)
c.409T>A (p.Ser137Thr)
n.411T>A
c.2233T>A (p.Ser745Thr)
n.1130T>A
n.712T>A
n.1131T>A
n.3105T>A
c.1468T>A (p.Ser490Thr)
c.9613T>A (p.Ser3205Thr)
c.5581T>A (p.Ser1861Thr)
c.286T>A (p.Ser96Thr)
c.352T>A (p.Ser118Thr)
n.543T>A
c.1426T>A (p.Ser476Thr)
c.2701T>A (p.Ser901Thr)
c.9601T>A (p.Ser3201Thr)
c.9598T>A (p.Ser3200Thr)
c.9610T>A (p.Ser3204Thr)
c.9589T>A (p.Ser3197Thr)
c.9244T>A (p.Ser3082Thr)
c.5590T>A (p.Ser1864Thr)
c.9484T>A (p.Ser3162Thr)
c.9475T>A (p.Ser3159Thr)
c.9490T>A (p.Ser3164Thr)
c.3787T>A (p.Ser1263Thr)
Xg.31206619A>CCA412649484DMDc.4458T>G (p.Ile1486Met)
c.408T>G (p.Ile136Met)
n.410T>G
c.2232T>G (p.Ile744Met)
n.1129T>G
n.711T>G
n.1130T>G
n.3104T>G
c.1467T>G (p.Ile489Met)
c.9612T>G (p.Ile3204Met)
c.5580T>G (p.Ile1860Met)
c.285T>G (p.Ile95Met)
c.351T>G (p.Ile117Met)
n.542T>G
c.1425T>G (p.Ile475Met)
c.2700T>G (p.Ile900Met)
c.9600T>G (p.Ile3200Met)
c.9597T>G (p.Ile3199Met)
c.9609T>G (p.Ile3203Met)
c.9588T>G (p.Ile3196Met)
c.9243T>G (p.Ile3081Met)
c.5589T>G (p.Ile1863Met)
c.9483T>G (p.Ile3161Met)
c.9474T>G (p.Ile3158Met)
c.9489T>G (p.Ile3163Met)
c.3786T>G (p.Ile1262Met)
Xg.31206619A>GCA515857054DMDc.4458T>C (p.Ile1486=)
c.408T>C (p.Ile136=)
n.410T>C
c.2232T>C (p.Ile744=)
n.1129T>C
n.711T>C
n.1130T>C
n.3104T>C
c.1467T>C (p.Ile489=)
c.9612T>C (p.Ile3204=)
c.5580T>C (p.Ile1860=)
c.285T>C (p.Ile95=)
c.351T>C (p.Ile117=)
n.542T>C
c.1425T>C (p.Ile475=)
c.2700T>C (p.Ile900=)
c.9600T>C (p.Ile3200=)
c.9597T>C (p.Ile3199=)
c.9609T>C (p.Ile3203=)
c.9588T>C (p.Ile3196=)
c.9243T>C (p.Ile3081=)
c.5589T>C (p.Ile1863=)
c.9483T>C (p.Ile3161=)
c.9474T>C (p.Ile3158=)
c.9489T>C (p.Ile3163=)
c.3786T>C (p.Ile1262=)
Xg.31206619A>TCA515857056DMDc.4458T>A (p.Ile1486=)
c.408T>A (p.Ile136=)
n.410T>A
c.2232T>A (p.Ile744=)
n.1129T>A
n.711T>A
n.1130T>A
n.3104T>A
c.1467T>A (p.Ile489=)
c.9612T>A (p.Ile3204=)
c.5580T>A (p.Ile1860=)
c.285T>A (p.Ile95=)
c.351T>A (p.Ile117=)
n.542T>A
c.1425T>A (p.Ile475=)
c.2700T>A (p.Ile900=)
c.9600T>A (p.Ile3200=)
c.9597T>A (p.Ile3199=)
c.9609T>A (p.Ile3203=)
c.9588T>A (p.Ile3196=)
c.9243T>A (p.Ile3081=)
c.5589T>A (p.Ile1863=)
c.9483T>A (p.Ile3161=)
c.9474T>A (p.Ile3158=)
c.9489T>A (p.Ile3163=)
c.3786T>A (p.Ile1262=)
 gnomAD v4
Xg.31206620A>CCA412649485DMDc.4457T>G (p.Ile1486Ser)
c.407T>G (p.Ile136Ser)
n.409T>G
c.2231T>G (p.Ile744Ser)
n.1128T>G
n.710T>G
n.1129T>G
n.3103T>G
c.1466T>G (p.Ile489Ser)
c.9611T>G (p.Ile3204Ser)
c.5579T>G (p.Ile1860Ser)
c.284T>G (p.Ile95Ser)
c.350T>G (p.Ile117Ser)
n.541T>G
c.1424T>G (p.Ile475Ser)
c.2699T>G (p.Ile900Ser)
c.9599T>G (p.Ile3200Ser)
c.9596T>G (p.Ile3199Ser)
c.9608T>G (p.Ile3203Ser)
c.9587T>G (p.Ile3196Ser)
c.9242T>G (p.Ile3081Ser)
c.5588T>G (p.Ile1863Ser)
c.9482T>G (p.Ile3161Ser)
c.9473T>G (p.Ile3158Ser)
c.9488T>G (p.Ile3163Ser)
c.3785T>G (p.Ile1262Ser)
Xg.31206620A>GCA412649486DMDc.4457T>C (p.Ile1486Thr)
c.407T>C (p.Ile136Thr)
n.409T>C
c.2231T>C (p.Ile744Thr)
n.1128T>C
n.710T>C
n.1129T>C
n.3103T>C
c.1466T>C (p.Ile489Thr)
c.9611T>C (p.Ile3204Thr)
c.5579T>C (p.Ile1860Thr)
c.284T>C (p.Ile95Thr)
c.350T>C (p.Ile117Thr)
n.541T>C
c.1424T>C (p.Ile475Thr)
c.2699T>C (p.Ile900Thr)
c.9599T>C (p.Ile3200Thr)
c.9596T>C (p.Ile3199Thr)
c.9608T>C (p.Ile3203Thr)
c.9587T>C (p.Ile3196Thr)
c.9242T>C (p.Ile3081Thr)
c.5588T>C (p.Ile1863Thr)
c.9482T>C (p.Ile3161Thr)
c.9473T>C (p.Ile3158Thr)
c.9488T>C (p.Ile3163Thr)
c.3785T>C (p.Ile1262Thr)
Xg.31206620A>TCA412649487DMDc.4457T>A (p.Ile1486Asn)
c.407T>A (p.Ile136Asn)
n.409T>A
c.2231T>A (p.Ile744Asn)
n.1128T>A
n.710T>A
n.1129T>A
n.3103T>A
c.1466T>A (p.Ile489Asn)
c.9611T>A (p.Ile3204Asn)
c.5579T>A (p.Ile1860Asn)
c.284T>A (p.Ile95Asn)
c.350T>A (p.Ile117Asn)
n.541T>A
c.1424T>A (p.Ile475Asn)
c.2699T>A (p.Ile900Asn)
c.9599T>A (p.Ile3200Asn)
c.9596T>A (p.Ile3199Asn)
c.9608T>A (p.Ile3203Asn)
c.9587T>A (p.Ile3196Asn)
c.9242T>A (p.Ile3081Asn)
c.5588T>A (p.Ile1863Asn)
c.9482T>A (p.Ile3161Asn)
c.9473T>A (p.Ile3158Asn)
c.9488T>A (p.Ile3163Asn)
c.3785T>A (p.Ile1262Asn)
Xg.31206621T>ACA412649488DMDc.4456A>T (p.Ile1486Phe)
c.406A>T (p.Ile136Phe)
n.408A>T
c.2230A>T (p.Ile744Phe)
n.1127A>T
n.709A>T
n.1128A>T
n.3102A>T
c.1465A>T (p.Ile489Phe)
c.9610A>T (p.Ile3204Phe)
c.5578A>T (p.Ile1860Phe)
c.283A>T (p.Ile95Phe)
c.349A>T (p.Ile117Phe)
n.540A>T
c.1423A>T (p.Ile475Phe)
c.2698A>T (p.Ile900Phe)
c.9598A>T (p.Ile3200Phe)
c.9595A>T (p.Ile3199Phe)
c.9607A>T (p.Ile3203Phe)
c.9586A>T (p.Ile3196Phe)
c.9241A>T (p.Ile3081Phe)
c.5587A>T (p.Ile1863Phe)
c.9481A>T (p.Ile3161Phe)
c.9472A>T (p.Ile3158Phe)
c.9487A>T (p.Ile3163Phe)
c.3784A>T (p.Ile1262Phe)
Xg.31206621T>CCA412649490DMDc.4456A>G (p.Ile1486Val)
c.406A>G (p.Ile136Val)
n.408A>G
c.2230A>G (p.Ile744Val)
n.1127A>G
n.709A>G
n.1128A>G
n.3102A>G
c.1465A>G (p.Ile489Val)
c.9610A>G (p.Ile3204Val)
c.5578A>G (p.Ile1860Val)
c.283A>G (p.Ile95Val)
c.349A>G (p.Ile117Val)
n.540A>G
c.1423A>G (p.Ile475Val)
c.2698A>G (p.Ile900Val)
c.9598A>G (p.Ile3200Val)
c.9595A>G (p.Ile3199Val)
c.9607A>G (p.Ile3203Val)
c.9586A>G (p.Ile3196Val)
c.9241A>G (p.Ile3081Val)
c.5587A>G (p.Ile1863Val)
c.9481A>G (p.Ile3161Val)
c.9472A>G (p.Ile3158Val)
c.9487A>G (p.Ile3163Val)
c.3784A>G (p.Ile1262Val)
Xg.31206621T>GCA412649492DMDc.4456A>C (p.Ile1486Leu)
c.406A>C (p.Ile136Leu)
n.408A>C
c.2230A>C (p.Ile744Leu)
n.1127A>C
n.709A>C
n.1128A>C
n.3102A>C
c.1465A>C (p.Ile489Leu)
c.9610A>C (p.Ile3204Leu)
c.5578A>C (p.Ile1860Leu)
c.283A>C (p.Ile95Leu)
c.349A>C (p.Ile117Leu)
n.540A>C
c.1423A>C (p.Ile475Leu)
c.2698A>C (p.Ile900Leu)
c.9598A>C (p.Ile3200Leu)
c.9595A>C (p.Ile3199Leu)
c.9607A>C (p.Ile3203Leu)
c.9586A>C (p.Ile3196Leu)
c.9241A>C (p.Ile3081Leu)
c.5587A>C (p.Ile1863Leu)
c.9481A>C (p.Ile3161Leu)
c.9472A>C (p.Ile3158Leu)
c.9487A>C (p.Ile3163Leu)
c.3784A>C (p.Ile1262Leu)
Xg.31206622G>ACA515857057DMDc.4455C>T (p.Ile1485=)
c.405C>T (p.Ile135=)
n.407C>T
c.2229C>T (p.Ile743=)
n.1126C>T
n.708C>T
n.1127C>T
n.3101C>T
c.1464C>T (p.Ile488=)
c.9609C>T (p.Ile3203=)
c.5577C>T (p.Ile1859=)
c.282C>T (p.Ile94=)
c.348C>T (p.Ile116=)
n.539C>T
c.1422C>T (p.Ile474=)
c.2697C>T (p.Ile899=)
c.9597C>T (p.Ile3199=)
c.9594C>T (p.Ile3198=)
c.9606C>T (p.Ile3202=)
c.9585C>T (p.Ile3195=)
c.9240C>T (p.Ile3080=)
c.5586C>T (p.Ile1862=)
c.9480C>T (p.Ile3160=)
c.9471C>T (p.Ile3157=)
c.9486C>T (p.Ile3162=)
c.3783C>T (p.Ile1261=)
Xg.31206622G>CCA412649494DMDc.4455C>G (p.Ile1485Met)
c.405C>G (p.Ile135Met)
n.407C>G
c.2229C>G (p.Ile743Met)
n.1126C>G
n.708C>G
n.1127C>G
n.3101C>G
c.1464C>G (p.Ile488Met)
c.9609C>G (p.Ile3203Met)
c.5577C>G (p.Ile1859Met)
c.282C>G (p.Ile94Met)
c.348C>G (p.Ile116Met)
n.539C>G
c.1422C>G (p.Ile474Met)
c.2697C>G (p.Ile899Met)
c.9597C>G (p.Ile3199Met)
c.9594C>G (p.Ile3198Met)
c.9606C>G (p.Ile3202Met)
c.9585C>G (p.Ile3195Met)
c.9240C>G (p.Ile3080Met)
c.5586C>G (p.Ile1862Met)
c.9480C>G (p.Ile3160Met)
c.9471C>G (p.Ile3157Met)
c.9486C>G (p.Ile3162Met)
c.3783C>G (p.Ile1261Met)
Xg.31206622G>TCA515857058DMDc.4455C>A (p.Ile1485=)
c.405C>A (p.Ile135=)
n.407C>A
c.2229C>A (p.Ile743=)
n.1126C>A
n.708C>A
n.1127C>A
n.3101C>A
c.1464C>A (p.Ile488=)
c.9609C>A (p.Ile3203=)
c.5577C>A (p.Ile1859=)
c.282C>A (p.Ile94=)
c.348C>A (p.Ile116=)
n.539C>A
c.1422C>A (p.Ile474=)
c.2697C>A (p.Ile899=)
c.9597C>A (p.Ile3199=)
c.9594C>A (p.Ile3198=)
c.9606C>A (p.Ile3202=)
c.9585C>A (p.Ile3195=)
c.9240C>A (p.Ile3080=)
c.5586C>A (p.Ile1862=)
c.9480C>A (p.Ile3160=)
c.9471C>A (p.Ile3157=)
c.9486C>A (p.Ile3162=)
c.3783C>A (p.Ile1261=)
Xg.31206623A>CCA412649497DMDc.4454T>G (p.Ile1485Ser)
c.404T>G (p.Ile135Ser)
n.406T>G
c.2228T>G (p.Ile743Ser)
n.1125T>G
n.707T>G
n.1126T>G
n.3100T>G
c.1463T>G (p.Ile488Ser)
c.9608T>G (p.Ile3203Ser)
c.5576T>G (p.Ile1859Ser)
c.281T>G (p.Ile94Ser)
c.347T>G (p.Ile116Ser)
n.538T>G
c.1421T>G (p.Ile474Ser)
c.2696T>G (p.Ile899Ser)
c.9596T>G (p.Ile3199Ser)
c.9593T>G (p.Ile3198Ser)
c.9605T>G (p.Ile3202Ser)
c.9584T>G (p.Ile3195Ser)
c.9239T>G (p.Ile3080Ser)
c.5585T>G (p.Ile1862Ser)
c.9479T>G (p.Ile3160Ser)
c.9470T>G (p.Ile3157Ser)
c.9485T>G (p.Ile3162Ser)
c.3782T>G (p.Ile1261Ser)
Xg.31206623A>GCA412649499DMDc.4454T>C (p.Ile1485Thr)
c.404T>C (p.Ile135Thr)
n.406T>C
c.2228T>C (p.Ile743Thr)
n.1125T>C
n.707T>C
n.1126T>C
n.3100T>C
c.1463T>C (p.Ile488Thr)
c.9608T>C (p.Ile3203Thr)
c.5576T>C (p.Ile1859Thr)
c.281T>C (p.Ile94Thr)
c.347T>C (p.Ile116Thr)
n.538T>C
c.1421T>C (p.Ile474Thr)
c.2696T>C (p.Ile899Thr)
c.9596T>C (p.Ile3199Thr)
c.9593T>C (p.Ile3198Thr)
c.9605T>C (p.Ile3202Thr)
c.9584T>C (p.Ile3195Thr)
c.9239T>C (p.Ile3080Thr)
c.5585T>C (p.Ile1862Thr)
c.9479T>C (p.Ile3160Thr)
c.9470T>C (p.Ile3157Thr)
c.9485T>C (p.Ile3162Thr)
c.3782T>C (p.Ile1261Thr)
Xg.31206623A>TCA412649495DMDc.4454T>A (p.Ile1485Asn)
c.404T>A (p.Ile135Asn)
n.406T>A
c.2228T>A (p.Ile743Asn)
n.1125T>A
n.707T>A
n.1126T>A
n.3100T>A
c.1463T>A (p.Ile488Asn)
c.9608T>A (p.Ile3203Asn)
c.5576T>A (p.Ile1859Asn)
c.281T>A (p.Ile94Asn)
c.347T>A (p.Ile116Asn)
n.538T>A
c.1421T>A (p.Ile474Asn)
c.2696T>A (p.Ile899Asn)
c.9596T>A (p.Ile3199Asn)
c.9593T>A (p.Ile3198Asn)
c.9605T>A (p.Ile3202Asn)
c.9584T>A (p.Ile3195Asn)
c.9239T>A (p.Ile3080Asn)
c.5585T>A (p.Ile1862Asn)
c.9479T>A (p.Ile3160Asn)
c.9470T>A (p.Ile3157Asn)
c.9485T>A (p.Ile3162Asn)
c.3782T>A (p.Ile1261Asn)
Xg.31206624T>ACA412649504DMDc.4453A>T (p.Ile1485Phe)
c.403A>T (p.Ile135Phe)
n.405A>T
c.2227A>T (p.Ile743Phe)
n.1124A>T
n.706A>T
n.1125A>T
n.3099A>T
c.1462A>T (p.Ile488Phe)
c.9607A>T (p.Ile3203Phe)
c.5575A>T (p.Ile1859Phe)
c.280A>T (p.Ile94Phe)
c.346A>T (p.Ile116Phe)
n.537A>T
c.1420A>T (p.Ile474Phe)
c.2695A>T (p.Ile899Phe)
c.9595A>T (p.Ile3199Phe)
c.9592A>T (p.Ile3198Phe)
c.9604A>T (p.Ile3202Phe)
c.9583A>T (p.Ile3195Phe)
c.9238A>T (p.Ile3080Phe)
c.5584A>T (p.Ile1862Phe)
c.9478A>T (p.Ile3160Phe)
c.9469A>T (p.Ile3157Phe)
c.9484A>T (p.Ile3162Phe)
c.3781A>T (p.Ile1261Phe)
Xg.31206624T>CCA412649500DMDc.4453A>G (p.Ile1485Val)
c.403A>G (p.Ile135Val)
n.405A>G
c.2227A>G (p.Ile743Val)
n.1124A>G
n.706A>G
n.1125A>G
n.3099A>G
c.1462A>G (p.Ile488Val)
c.9607A>G (p.Ile3203Val)
c.5575A>G (p.Ile1859Val)
c.280A>G (p.Ile94Val)
c.346A>G (p.Ile116Val)
n.537A>G
c.1420A>G (p.Ile474Val)
c.2695A>G (p.Ile899Val)
c.9595A>G (p.Ile3199Val)
c.9592A>G (p.Ile3198Val)
c.9604A>G (p.Ile3202Val)
c.9583A>G (p.Ile3195Val)
c.9238A>G (p.Ile3080Val)
c.5584A>G (p.Ile1862Val)
c.9478A>G (p.Ile3160Val)
c.9469A>G (p.Ile3157Val)
c.9484A>G (p.Ile3162Val)
c.3781A>G (p.Ile1261Val)
Xg.31206624T>GCA412649502DMDc.4453A>C (p.Ile1485Leu)
c.403A>C (p.Ile135Leu)
n.405A>C
c.2227A>C (p.Ile743Leu)
n.1124A>C
n.706A>C
n.1125A>C
n.3099A>C
c.1462A>C (p.Ile488Leu)
c.9607A>C (p.Ile3203Leu)
c.5575A>C (p.Ile1859Leu)
c.280A>C (p.Ile94Leu)
c.346A>C (p.Ile116Leu)
n.537A>C
c.1420A>C (p.Ile474Leu)
c.2695A>C (p.Ile899Leu)
c.9595A>C (p.Ile3199Leu)
c.9592A>C (p.Ile3198Leu)
c.9604A>C (p.Ile3202Leu)
c.9583A>C (p.Ile3195Leu)
c.9238A>C (p.Ile3080Leu)
c.5584A>C (p.Ile1862Leu)
c.9478A>C (p.Ile3160Leu)
c.9469A>C (p.Ile3157Leu)
c.9484A>C (p.Ile3162Leu)
c.3781A>C (p.Ile1261Leu)
Xg.31206625G>ACA515857059DMDc.4452C>T (p.Gly1484=)
c.402C>T (p.Gly134=)
n.404C>T
c.2226C>T (p.Gly742=)
n.1123C>T
n.705C>T
n.1124C>T
n.3098C>T
c.1461C>T (p.Gly487=)
c.9606C>T (p.Gly3202=)
c.5574C>T (p.Gly1858=)
c.279C>T (p.Gly93=)
c.345C>T (p.Gly115=)
n.536C>T
c.1419C>T (p.Gly473=)
c.2694C>T (p.Gly898=)
c.9594C>T (p.Gly3198=)
c.9591C>T (p.Gly3197=)
c.9603C>T (p.Gly3201=)
c.9582C>T (p.Gly3194=)
c.9237C>T (p.Gly3079=)
c.5583C>T (p.Gly1861=)
c.9477C>T (p.Gly3159=)
c.9468C>T (p.Gly3156=)
c.9483C>T (p.Gly3161=)
c.3780C>T (p.Gly1260=)
Xg.31206625G>CCA515857060DMDc.4452C>G (p.Gly1484=)
c.402C>G (p.Gly134=)
n.404C>G
c.2226C>G (p.Gly742=)
n.1123C>G
n.705C>G
n.1124C>G
n.3098C>G
c.1461C>G (p.Gly487=)
c.9606C>G (p.Gly3202=)
c.5574C>G (p.Gly1858=)
c.279C>G (p.Gly93=)
c.345C>G (p.Gly115=)
n.536C>G
c.1419C>G (p.Gly473=)
c.2694C>G (p.Gly898=)
c.9594C>G (p.Gly3198=)
c.9591C>G (p.Gly3197=)
c.9603C>G (p.Gly3201=)
c.9582C>G (p.Gly3194=)
c.9237C>G (p.Gly3079=)
c.5583C>G (p.Gly1861=)
c.9477C>G (p.Gly3159=)
c.9468C>G (p.Gly3156=)
c.9483C>G (p.Gly3161=)
c.3780C>G (p.Gly1260=)
Xg.31206625G>TCA515857061DMDc.4452C>A (p.Gly1484=)
c.402C>A (p.Gly134=)
n.404C>A
c.2226C>A (p.Gly742=)
n.1123C>A
n.705C>A
n.1124C>A
n.3098C>A
c.1461C>A (p.Gly487=)
c.9606C>A (p.Gly3202=)
c.5574C>A (p.Gly1858=)
c.279C>A (p.Gly93=)
c.345C>A (p.Gly115=)
n.536C>A
c.1419C>A (p.Gly473=)
c.2694C>A (p.Gly898=)
c.9594C>A (p.Gly3198=)
c.9591C>A (p.Gly3197=)
c.9603C>A (p.Gly3201=)
c.9582C>A (p.Gly3194=)
c.9237C>A (p.Gly3079=)
c.5583C>A (p.Gly1861=)
c.9477C>A (p.Gly3159=)
c.9468C>A (p.Gly3156=)
c.9483C>A (p.Gly3161=)
c.3780C>A (p.Gly1260=)
Xg.31206626C>ACA412649506DMDc.4451G>T (p.Gly1484Val)
c.401G>T (p.Gly134Val)
n.403G>T
c.2225G>T (p.Gly742Val)
n.1122G>T
n.704G>T
n.1123G>T
n.3097G>T
c.1460G>T (p.Gly487Val)
c.9605G>T (p.Gly3202Val)
c.5573G>T (p.Gly1858Val)
c.278G>T (p.Gly93Val)
c.344G>T (p.Gly115Val)
n.535G>T
c.1418G>T (p.Gly473Val)
c.2693G>T (p.Gly898Val)
c.9593G>T (p.Gly3198Val)
c.9590G>T (p.Gly3197Val)
c.9602G>T (p.Gly3201Val)
c.9581G>T (p.Gly3194Val)
c.9236G>T (p.Gly3079Val)
c.5582G>T (p.Gly1861Val)
c.9476G>T (p.Gly3159Val)
c.9467G>T (p.Gly3156Val)
c.9482G>T (p.Gly3161Val)
c.3779G>T (p.Gly1260Val)
Xg.31206626C>GCA412649507DMDc.4451G>C (p.Gly1484Ala)
c.401G>C (p.Gly134Ala)
n.403G>C
c.2225G>C (p.Gly742Ala)
n.1122G>C
n.704G>C
n.1123G>C
n.3097G>C
c.1460G>C (p.Gly487Ala)
c.9605G>C (p.Gly3202Ala)
c.5573G>C (p.Gly1858Ala)
c.278G>C (p.Gly93Ala)
c.344G>C (p.Gly115Ala)
n.535G>C
c.1418G>C (p.Gly473Ala)
c.2693G>C (p.Gly898Ala)
c.9593G>C (p.Gly3198Ala)
c.9590G>C (p.Gly3197Ala)
c.9602G>C (p.Gly3201Ala)
c.9581G>C (p.Gly3194Ala)
c.9236G>C (p.Gly3079Ala)
c.5582G>C (p.Gly1861Ala)
c.9476G>C (p.Gly3159Ala)
c.9467G>C (p.Gly3156Ala)
c.9482G>C (p.Gly3161Ala)
c.3779G>C (p.Gly1260Ala)
Xg.31206626C>TCA412649509DMDc.4451G>A (p.Gly1484Asp)
c.401G>A (p.Gly134Asp)
n.403G>A
c.2225G>A (p.Gly742Asp)
n.1122G>A
n.704G>A
n.1123G>A
n.3097G>A
c.1460G>A (p.Gly487Asp)
c.9605G>A (p.Gly3202Asp)
c.5573G>A (p.Gly1858Asp)
c.278G>A (p.Gly93Asp)
c.344G>A (p.Gly115Asp)
n.535G>A
c.1418G>A (p.Gly473Asp)
c.2693G>A (p.Gly898Asp)
c.9593G>A (p.Gly3198Asp)
c.9590G>A (p.Gly3197Asp)
c.9602G>A (p.Gly3201Asp)
c.9581G>A (p.Gly3194Asp)
c.9236G>A (p.Gly3079Asp)
c.5582G>A (p.Gly1861Asp)
c.9476G>A (p.Gly3159Asp)
c.9467G>A (p.Gly3156Asp)
c.9482G>A (p.Gly3161Asp)
c.3779G>A (p.Gly1260Asp)
Xg.31206627C>ACA412649510DMDc.4450G>T (p.Gly1484Cys)
c.400G>T (p.Gly134Cys)
n.402G>T
c.2224G>T (p.Gly742Cys)
n.1121G>T
n.703G>T
n.1122G>T
n.3096G>T
c.1459G>T (p.Gly487Cys)
c.9604G>T (p.Gly3202Cys)
c.5572G>T (p.Gly1858Cys)
c.277G>T (p.Gly93Cys)
c.343G>T (p.Gly115Cys)
n.534G>T
c.1417G>T (p.Gly473Cys)
c.2692G>T (p.Gly898Cys)
c.9592G>T (p.Gly3198Cys)
c.9589G>T (p.Gly3197Cys)
c.9601G>T (p.Gly3201Cys)
c.9580G>T (p.Gly3194Cys)
c.9235G>T (p.Gly3079Cys)
c.5581G>T (p.Gly1861Cys)
c.9475G>T (p.Gly3159Cys)
c.9466G>T (p.Gly3156Cys)
c.9481G>T (p.Gly3161Cys)
c.3778G>T (p.Gly1260Cys)
Xg.31206627C>GCA412649512DMDc.4450G>C (p.Gly1484Arg)
c.400G>C (p.Gly134Arg)
n.402G>C
c.2224G>C (p.Gly742Arg)
n.1121G>C
n.703G>C
n.1122G>C
n.3096G>C
c.1459G>C (p.Gly487Arg)
c.9604G>C (p.Gly3202Arg)
c.5572G>C (p.Gly1858Arg)
c.277G>C (p.Gly93Arg)
c.343G>C (p.Gly115Arg)
n.534G>C
c.1417G>C (p.Gly473Arg)
c.2692G>C (p.Gly898Arg)
c.9592G>C (p.Gly3198Arg)
c.9589G>C (p.Gly3197Arg)
c.9601G>C (p.Gly3201Arg)
c.9580G>C (p.Gly3194Arg)
c.9235G>C (p.Gly3079Arg)
c.5581G>C (p.Gly1861Arg)
c.9475G>C (p.Gly3159Arg)
c.9466G>C (p.Gly3156Arg)
c.9481G>C (p.Gly3161Arg)
c.3778G>C (p.Gly1260Arg)
Xg.31206627C>TCA412649514DMDc.4450G>A (p.Gly1484Ser)
c.400G>A (p.Gly134Ser)
n.402G>A
c.2224G>A (p.Gly742Ser)
n.1121G>A
n.703G>A
n.1122G>A
n.3096G>A
c.1459G>A (p.Gly487Ser)
c.9604G>A (p.Gly3202Ser)
c.5572G>A (p.Gly1858Ser)
c.277G>A (p.Gly93Ser)
c.343G>A (p.Gly115Ser)
n.534G>A
c.1417G>A (p.Gly473Ser)
c.2692G>A (p.Gly898Ser)
c.9592G>A (p.Gly3198Ser)
c.9589G>A (p.Gly3197Ser)
c.9601G>A (p.Gly3201Ser)
c.9580G>A (p.Gly3194Ser)
c.9235G>A (p.Gly3079Ser)
c.5581G>A (p.Gly1861Ser)
c.9475G>A (p.Gly3159Ser)
c.9466G>A (p.Gly3156Ser)
c.9481G>A (p.Gly3161Ser)
c.3778G>A (p.Gly1260Ser)
Xg.31206630_31206642dupCA2695232310DMDc.4438_4450dup (p.Gly1484ValfsTer3)
c.388_400dup (p.Gly134ValfsTer3)
n.390_402dup
c.2212_2224dup (p.Gly742ValfsTer3)
n.1109_1121dup
n.691_703dup
n.1110_1122dup
n.3084_3096dup
c.1447_1459dup (p.Gly487ValfsTer3)
c.9592_9604dup (p.Gly3202ValfsTer3)
c.5560_5572dup (p.Gly1858ValfsTer3)
c.265_277dup (p.Gly93ValfsTer3)
c.331_343dup (p.Gly115ValfsTer3)
n.522_534dup
c.1405_1417dup (p.Gly473ValfsTer3)
c.2680_2692dup (p.Gly898ValfsTer3)
c.9580_9592dup (p.Gly3198ValfsTer3)
c.9577_9589dup (p.Gly3197ValfsTer3)
c.9589_9601dup (p.Gly3201ValfsTer3)
c.9568_9580dup (p.Gly3194ValfsTer3)
c.9223_9235dup (p.Gly3079ValfsTer3)
c.5569_5581dup (p.Gly1861ValfsTer3)
c.9463_9475dup (p.Gly3159ValfsTer3)
c.9454_9466dup (p.Gly3156ValfsTer3)
c.9469_9481dup (p.Gly3161ValfsTer3)
c.3766_3778dup (p.Gly1260ValfsTer3)
Xg.31206628A>CCA515857064DMDc.4449T>G (p.Thr1483=)
c.399T>G (p.Thr133=)
n.401T>G
c.2223T>G (p.Thr741=)
n.1120T>G
n.702T>G
n.1121T>G
n.3095T>G
c.1458T>G (p.Thr486=)
c.9603T>G (p.Thr3201=)
c.5571T>G (p.Thr1857=)
c.276T>G (p.Thr92=)
c.342T>G (p.Thr114=)
n.533T>G
c.1416T>G (p.Thr472=)
c.2691T>G (p.Thr897=)
c.9591T>G (p.Thr3197=)
c.9588T>G (p.Thr3196=)
c.9600T>G (p.Thr3200=)
c.9579T>G (p.Thr3193=)
c.9234T>G (p.Thr3078=)
c.5580T>G (p.Thr1860=)
c.9474T>G (p.Thr3158=)
c.9465T>G (p.Thr3155=)
c.9480T>G (p.Thr3160=)
c.3777T>G (p.Thr1259=)
 ClinVar gnomAD v4
Xg.31206628A>GCA515857066DMDc.4449T>C (p.Thr1483=)
c.399T>C (p.Thr133=)
n.401T>C
c.2223T>C (p.Thr741=)
n.1120T>C
n.702T>C
n.1121T>C
n.3095T>C
c.1458T>C (p.Thr486=)
c.9603T>C (p.Thr3201=)
c.5571T>C (p.Thr1857=)
c.276T>C (p.Thr92=)
c.342T>C (p.Thr114=)
n.533T>C
c.1416T>C (p.Thr472=)
c.2691T>C (p.Thr897=)
c.9591T>C (p.Thr3197=)
c.9588T>C (p.Thr3196=)
c.9600T>C (p.Thr3200=)
c.9579T>C (p.Thr3193=)
c.9234T>C (p.Thr3078=)
c.5580T>C (p.Thr1860=)
c.9474T>C (p.Thr3158=)
c.9465T>C (p.Thr3155=)
c.9480T>C (p.Thr3160=)
c.3777T>C (p.Thr1259=)
 ClinVar dbSNP
Xg.31206628A>TCA515857067DMDc.4449T>A (p.Thr1483=)
c.399T>A (p.Thr133=)
n.401T>A
c.2223T>A (p.Thr741=)
n.1120T>A
n.702T>A
n.1121T>A
n.3095T>A
c.1458T>A (p.Thr486=)
c.9603T>A (p.Thr3201=)
c.5571T>A (p.Thr1857=)
c.276T>A (p.Thr92=)
c.342T>A (p.Thr114=)
n.533T>A
c.1416T>A (p.Thr472=)
c.2691T>A (p.Thr897=)
c.9591T>A (p.Thr3197=)
c.9588T>A (p.Thr3196=)
c.9600T>A (p.Thr3200=)
c.9579T>A (p.Thr3193=)
c.9234T>A (p.Thr3078=)
c.5580T>A (p.Thr1860=)
c.9474T>A (p.Thr3158=)
c.9465T>A (p.Thr3155=)
c.9480T>A (p.Thr3160=)
c.3777T>A (p.Thr1259=)
Xg.31206629G>ACA412649515DMDc.4448C>T (p.Thr1483Ile)
c.398C>T (p.Thr133Ile)
n.400C>T
c.2222C>T (p.Thr741Ile)
n.1119C>T
n.701C>T
n.1120C>T
n.3094C>T
c.1457C>T (p.Thr486Ile)
c.9602C>T (p.Thr3201Ile)
c.5570C>T (p.Thr1857Ile)
c.275C>T (p.Thr92Ile)
c.341C>T (p.Thr114Ile)
n.532C>T
c.1415C>T (p.Thr472Ile)
c.2690C>T (p.Thr897Ile)
c.9590C>T (p.Thr3197Ile)
c.9587C>T (p.Thr3196Ile)
c.9599C>T (p.Thr3200Ile)
c.9578C>T (p.Thr3193Ile)
c.9233C>T (p.Thr3078Ile)
c.5579C>T (p.Thr1860Ile)
c.9473C>T (p.Thr3158Ile)
c.9464C>T (p.Thr3155Ile)
c.9479C>T (p.Thr3160Ile)
c.3776C>T (p.Thr1259Ile)
 ClinVar gnomAD v4
Xg.31206629G>CCA412649516DMDc.4448C>G (p.Thr1483Ser)
c.398C>G (p.Thr133Ser)
n.400C>G
c.2222C>G (p.Thr741Ser)
n.1119C>G
n.701C>G
n.1120C>G
n.3094C>G
c.1457C>G (p.Thr486Ser)
c.9602C>G (p.Thr3201Ser)
c.5570C>G (p.Thr1857Ser)
c.275C>G (p.Thr92Ser)
c.341C>G (p.Thr114Ser)
n.532C>G
c.1415C>G (p.Thr472Ser)
c.2690C>G (p.Thr897Ser)
c.9590C>G (p.Thr3197Ser)
c.9587C>G (p.Thr3196Ser)
c.9599C>G (p.Thr3200Ser)
c.9578C>G (p.Thr3193Ser)
c.9233C>G (p.Thr3078Ser)
c.5579C>G (p.Thr1860Ser)
c.9473C>G (p.Thr3158Ser)
c.9464C>G (p.Thr3155Ser)
c.9479C>G (p.Thr3160Ser)
c.3776C>G (p.Thr1259Ser)
 ClinVar
Xg.31206629G>TCA412649517DMDc.4448C>A (p.Thr1483Asn)
c.398C>A (p.Thr133Asn)
n.400C>A
c.2222C>A (p.Thr741Asn)
n.1119C>A
n.701C>A
n.1120C>A
n.3094C>A
c.1457C>A (p.Thr486Asn)
c.9602C>A (p.Thr3201Asn)
c.5570C>A (p.Thr1857Asn)
c.275C>A (p.Thr92Asn)
c.341C>A (p.Thr114Asn)
n.532C>A
c.1415C>A (p.Thr472Asn)
c.2690C>A (p.Thr897Asn)
c.9590C>A (p.Thr3197Asn)
c.9587C>A (p.Thr3196Asn)
c.9599C>A (p.Thr3200Asn)
c.9578C>A (p.Thr3193Asn)
c.9233C>A (p.Thr3078Asn)
c.5579C>A (p.Thr1860Asn)
c.9473C>A (p.Thr3158Asn)
c.9464C>A (p.Thr3155Asn)
c.9479C>A (p.Thr3160Asn)
c.3776C>A (p.Thr1259Asn)
Xg.31206630T>ACA412649521DMDc.4447A>T (p.Thr1483Ser)
c.397A>T (p.Thr133Ser)
n.399A>T
c.2221A>T (p.Thr741Ser)
n.1118A>T
n.700A>T
n.1119A>T
n.3093A>T
c.1456A>T (p.Thr486Ser)
c.9601A>T (p.Thr3201Ser)
c.5569A>T (p.Thr1857Ser)
c.274A>T (p.Thr92Ser)
c.340A>T (p.Thr114Ser)
n.531A>T
c.1414A>T (p.Thr472Ser)
c.2689A>T (p.Thr897Ser)
c.9589A>T (p.Thr3197Ser)
c.9586A>T (p.Thr3196Ser)
c.9598A>T (p.Thr3200Ser)
c.9577A>T (p.Thr3193Ser)
c.9232A>T (p.Thr3078Ser)
c.5578A>T (p.Thr1860Ser)
c.9472A>T (p.Thr3158Ser)
c.9463A>T (p.Thr3155Ser)
c.9478A>T (p.Thr3160Ser)
c.3775A>T (p.Thr1259Ser)
Xg.31206630T>CCA412649520DMDc.4447A>G (p.Thr1483Ala)
c.397A>G (p.Thr133Ala)
n.399A>G
c.2221A>G (p.Thr741Ala)
n.1118A>G
n.700A>G
n.1119A>G
n.3093A>G
c.1456A>G (p.Thr486Ala)
c.9601A>G (p.Thr3201Ala)
c.5569A>G (p.Thr1857Ala)
c.274A>G (p.Thr92Ala)
c.340A>G (p.Thr114Ala)
n.531A>G
c.1414A>G (p.Thr472Ala)
c.2689A>G (p.Thr897Ala)
c.9589A>G (p.Thr3197Ala)
c.9586A>G (p.Thr3196Ala)
c.9598A>G (p.Thr3200Ala)
c.9577A>G (p.Thr3193Ala)
c.9232A>G (p.Thr3078Ala)
c.5578A>G (p.Thr1860Ala)
c.9472A>G (p.Thr3158Ala)
c.9463A>G (p.Thr3155Ala)
c.9478A>G (p.Thr3160Ala)
c.3775A>G (p.Thr1259Ala)
Xg.31206630T>GCA412649519DMDc.4447A>C (p.Thr1483Pro)
c.397A>C (p.Thr133Pro)
n.399A>C
c.2221A>C (p.Thr741Pro)
n.1118A>C
n.700A>C
n.1119A>C
n.3093A>C
c.1456A>C (p.Thr486Pro)
c.9601A>C (p.Thr3201Pro)
c.5569A>C (p.Thr1857Pro)
c.274A>C (p.Thr92Pro)
c.340A>C (p.Thr114Pro)
n.531A>C
c.1414A>C (p.Thr472Pro)
c.2689A>C (p.Thr897Pro)
c.9589A>C (p.Thr3197Pro)
c.9586A>C (p.Thr3196Pro)
c.9598A>C (p.Thr3200Pro)
c.9577A>C (p.Thr3193Pro)
c.9232A>C (p.Thr3078Pro)
c.5578A>C (p.Thr1860Pro)
c.9472A>C (p.Thr3158Pro)
c.9463A>C (p.Thr3155Pro)
c.9478A>C (p.Thr3160Pro)
c.3775A>C (p.Thr1259Pro)
Xg.31206633delCA2579578640DMDc.4447del (p.Thr1483LeufsTer?)
c.397del (p.Thr133LeufsTer?)
n.399del
c.2221del (p.Thr741LeufsTer?)
n.1118del
n.700del
n.1119del
n.3093del
c.1456del (p.Thr486LeufsTer?)
c.9601del (p.Thr3201LeufsTer?)
c.5569del (p.Thr1857LeufsTer?)
c.274del (p.Thr92LeufsTer?)
c.340del (p.Thr114LeufsTer?)
n.531del
c.1414del (p.Thr472LeufsTer?)
c.2689del (p.Thr897LeufsTer?)
c.9589del (p.Thr3197LeufsTer?)
c.9586del (p.Thr3196LeufsTer?)
c.9598del (p.Thr3200LeufsTer?)
c.9577del (p.Thr3193LeufsTer?)
c.9232del (p.Thr3078LeufsTer?)
c.5578del (p.Thr1860LeufsTer?)
c.9472del (p.Thr3158LeufsTer?)
c.9463del (p.Thr3155LeufsTer?)
c.9478del (p.Thr3160LeufsTer?)
c.3775del (p.Thr1259LeufsTer?)
Xg.31206632_31206633delCA2580100566DMDc.4446_4447del (p.Lys1482AsnfsTer8)
c.396_397del (p.Lys132AsnfsTer8)
n.398_399del
c.2220_2221del (p.Lys740AsnfsTer8)
n.1117_1118del
n.699_700del
n.1118_1119del
n.3092_3093del
c.1455_1456del (p.Lys485AsnfsTer8)
c.9600_9601del (p.Lys3200AsnfsTer8)
c.5568_5569del (p.Lys1856AsnfsTer8)
c.273_274del (p.Lys91AsnfsTer8)
c.339_340del (p.Lys113AsnfsTer8)
n.530_531del
c.1413_1414del (p.Lys471AsnfsTer8)
c.2688_2689del (p.Lys896AsnfsTer8)
c.9588_9589del (p.Lys3196AsnfsTer8)
c.9585_9586del (p.Lys3195AsnfsTer8)
c.9597_9598del (p.Lys3199AsnfsTer8)
c.9576_9577del (p.Lys3192AsnfsTer8)
c.9231_9232del (p.Lys3077AsnfsTer8)
c.5577_5578del (p.Lys1859AsnfsTer8)
c.9471_9472del (p.Lys3157AsnfsTer8)
c.9462_9463del (p.Lys3154AsnfsTer8)
c.9477_9478del (p.Lys3159AsnfsTer8)
c.3774_3775del (p.Lys1258AsnfsTer8)
 ClinVar
Xg.31206631T>ACA412649523DMDc.4446A>T (p.Lys1482Asn)
c.396A>T (p.Lys132Asn)
n.398A>T
c.2220A>T (p.Lys740Asn)
n.1117A>T
n.699A>T
n.1118A>T
n.3092A>T
c.1455A>T (p.Lys485Asn)
c.9600A>T (p.Lys3200Asn)
c.5568A>T (p.Lys1856Asn)
c.273A>T (p.Lys91Asn)
c.339A>T (p.Lys113Asn)
n.530A>T
c.1413A>T (p.Lys471Asn)
c.2688A>T (p.Lys896Asn)
c.9588A>T (p.Lys3196Asn)
c.9585A>T (p.Lys3195Asn)
c.9597A>T (p.Lys3199Asn)
c.9576A>T (p.Lys3192Asn)
c.9231A>T (p.Lys3077Asn)
c.5577A>T (p.Lys1859Asn)
c.9471A>T (p.Lys3157Asn)
c.9462A>T (p.Lys3154Asn)
c.9477A>T (p.Lys3159Asn)
c.3774A>T (p.Lys1258Asn)
Xg.31206631T>CCA515857069DMDc.4446A>G (p.Lys1482=)
c.396A>G (p.Lys132=)
n.398A>G
c.2220A>G (p.Lys740=)
n.1117A>G
n.699A>G
n.1118A>G
n.3092A>G
c.1455A>G (p.Lys485=)
c.9600A>G (p.Lys3200=)
c.5568A>G (p.Lys1856=)
c.273A>G (p.Lys91=)
c.339A>G (p.Lys113=)
n.530A>G
c.1413A>G (p.Lys471=)
c.2688A>G (p.Lys896=)
c.9588A>G (p.Lys3196=)
c.9585A>G (p.Lys3195=)
c.9597A>G (p.Lys3199=)
c.9576A>G (p.Lys3192=)
c.9231A>G (p.Lys3077=)
c.5577A>G (p.Lys1859=)
c.9471A>G (p.Lys3157=)
c.9462A>G (p.Lys3154=)
c.9477A>G (p.Lys3159=)
c.3774A>G (p.Lys1258=)
Xg.31206631T>GCA412649525DMDc.4446A>C (p.Lys1482Asn)
c.396A>C (p.Lys132Asn)
n.398A>C
c.2220A>C (p.Lys740Asn)
n.1117A>C
n.699A>C
n.1118A>C
n.3092A>C
c.1455A>C (p.Lys485Asn)
c.9600A>C (p.Lys3200Asn)
c.5568A>C (p.Lys1856Asn)
c.273A>C (p.Lys91Asn)
c.339A>C (p.Lys113Asn)
n.530A>C
c.1413A>C (p.Lys471Asn)
c.2688A>C (p.Lys896Asn)
c.9588A>C (p.Lys3196Asn)
c.9585A>C (p.Lys3195Asn)
c.9597A>C (p.Lys3199Asn)
c.9576A>C (p.Lys3192Asn)
c.9231A>C (p.Lys3077Asn)
c.5577A>C (p.Lys1859Asn)
c.9471A>C (p.Lys3157Asn)
c.9462A>C (p.Lys3154Asn)
c.9477A>C (p.Lys3159Asn)
c.3774A>C (p.Lys1258Asn)
Xg.31206632T>ACA10377771DMDc.4445A>T (p.Lys1482Ile)
c.395A>T (p.Lys132Ile)
n.397A>T
c.2219A>T (p.Lys740Ile)
n.1116A>T
n.698A>T
n.1117A>T
n.3091A>T
c.1454A>T (p.Lys485Ile)
c.9599A>T (p.Lys3200Ile)
c.5567A>T (p.Lys1856Ile)
c.272A>T (p.Lys91Ile)
c.338A>T (p.Lys113Ile)
n.529A>T
c.1412A>T (p.Lys471Ile)
c.2687A>T (p.Lys896Ile)
c.9587A>T (p.Lys3196Ile)
c.9584A>T (p.Lys3195Ile)
c.9596A>T (p.Lys3199Ile)
c.9575A>T (p.Lys3192Ile)
c.9230A>T (p.Lys3077Ile)
c.5576A>T (p.Lys1859Ile)
c.9470A>T (p.Lys3157Ile)
c.9461A>T (p.Lys3154Ile)
c.9476A>T (p.Lys3159Ile)
c.3773A>T (p.Lys1258Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31206632T>CCA412649527DMDc.4445A>G (p.Lys1482Arg)
c.395A>G (p.Lys132Arg)
n.397A>G
c.2219A>G (p.Lys740Arg)
n.1116A>G
n.698A>G
n.1117A>G
n.3091A>G
c.1454A>G (p.Lys485Arg)
c.9599A>G (p.Lys3200Arg)
c.5567A>G (p.Lys1856Arg)
c.272A>G (p.Lys91Arg)
c.338A>G (p.Lys113Arg)
n.529A>G
c.1412A>G (p.Lys471Arg)
c.2687A>G (p.Lys896Arg)
c.9587A>G (p.Lys3196Arg)
c.9584A>G (p.Lys3195Arg)
c.9596A>G (p.Lys3199Arg)
c.9575A>G (p.Lys3192Arg)
c.9230A>G (p.Lys3077Arg)
c.5576A>G (p.Lys1859Arg)
c.9470A>G (p.Lys3157Arg)
c.9461A>G (p.Lys3154Arg)
c.9476A>G (p.Lys3159Arg)
c.3773A>G (p.Lys1258Arg)
Xg.31206632T>GCA412649529DMDc.4445A>C (p.Lys1482Thr)
c.395A>C (p.Lys132Thr)
n.397A>C
c.2219A>C (p.Lys740Thr)
n.1116A>C
n.698A>C
n.1117A>C
n.3091A>C
c.1454A>C (p.Lys485Thr)
c.9599A>C (p.Lys3200Thr)
c.5567A>C (p.Lys1856Thr)
c.272A>C (p.Lys91Thr)
c.338A>C (p.Lys113Thr)
n.529A>C
c.1412A>C (p.Lys471Thr)
c.2687A>C (p.Lys896Thr)
c.9587A>C (p.Lys3196Thr)
c.9584A>C (p.Lys3195Thr)
c.9596A>C (p.Lys3199Thr)
c.9575A>C (p.Lys3192Thr)
c.9230A>C (p.Lys3077Thr)
c.5576A>C (p.Lys1859Thr)
c.9470A>C (p.Lys3157Thr)
c.9461A>C (p.Lys3154Thr)
c.9476A>C (p.Lys3159Thr)
c.3773A>C (p.Lys1258Thr)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31206632T=CA2422348457DMDc.4445A= (p.Lys1482=)
c.395A= (p.Lys132=)
n.397A=
c.2219A= (p.Lys740=)
n.1116A=
n.698A=
n.1117A=
n.3091A=
c.1454A= (p.Lys485=)
c.9599A= (p.Lys3200=)
c.5567A= (p.Lys1856=)
c.272A= (p.Lys91=)
c.338A= (p.Lys113=)
n.529A=
c.1412A= (p.Lys471=)
c.2687A= (p.Lys896=)
c.9587A= (p.Lys3196=)
c.9584A= (p.Lys3195=)
c.9596A= (p.Lys3199=)
c.9575A= (p.Lys3192=)
c.9230A= (p.Lys3077=)
c.5576A= (p.Lys1859=)
c.9470A= (p.Lys3157=)
c.9461A= (p.Lys3154=)
c.9476A= (p.Lys3159=)
c.3773A= (p.Lys1258=)
Xg.31206633T>ACA412649531DMDc.4444A>T (p.Lys1482Ter)
c.394A>T (p.Lys132Ter)
n.396A>T
c.2218A>T (p.Lys740Ter)
n.1115A>T
n.697A>T
n.1116A>T
n.3090A>T
c.1453A>T (p.Lys485Ter)
c.9598A>T (p.Lys3200Ter)
c.5566A>T (p.Lys1856Ter)
c.271A>T (p.Lys91Ter)
c.337A>T (p.Lys113Ter)
n.528A>T
c.1411A>T (p.Lys471Ter)
c.2686A>T (p.Lys896Ter)
c.9586A>T (p.Lys3196Ter)
c.9583A>T (p.Lys3195Ter)
c.9595A>T (p.Lys3199Ter)
c.9574A>T (p.Lys3192Ter)
c.9229A>T (p.Lys3077Ter)
c.5575A>T (p.Lys1859Ter)
c.9469A>T (p.Lys3157Ter)
c.9460A>T (p.Lys3154Ter)
c.9475A>T (p.Lys3159Ter)
c.3772A>T (p.Lys1258Ter)
Xg.31206633T>CCA412649532DMDc.4444A>G (p.Lys1482Glu)
c.394A>G (p.Lys132Glu)
n.396A>G
c.2218A>G (p.Lys740Glu)
n.1115A>G
n.697A>G
n.1116A>G
n.3090A>G
c.1453A>G (p.Lys485Glu)
c.9598A>G (p.Lys3200Glu)
c.5566A>G (p.Lys1856Glu)
c.271A>G (p.Lys91Glu)
c.337A>G (p.Lys113Glu)
n.528A>G
c.1411A>G (p.Lys471Glu)
c.2686A>G (p.Lys896Glu)
c.9586A>G (p.Lys3196Glu)
c.9583A>G (p.Lys3195Glu)
c.9595A>G (p.Lys3199Glu)
c.9574A>G (p.Lys3192Glu)
c.9229A>G (p.Lys3077Glu)
c.5575A>G (p.Lys1859Glu)
c.9469A>G (p.Lys3157Glu)
c.9460A>G (p.Lys3154Glu)
c.9475A>G (p.Lys3159Glu)
c.3772A>G (p.Lys1258Glu)
Xg.31206633T>GCA412649533DMDc.4444A>C (p.Lys1482Gln)
c.394A>C (p.Lys132Gln)
n.396A>C
c.2218A>C (p.Lys740Gln)
n.1115A>C
n.697A>C
n.1116A>C
n.3090A>C
c.1453A>C (p.Lys485Gln)
c.9598A>C (p.Lys3200Gln)
c.5566A>C (p.Lys1856Gln)
c.271A>C (p.Lys91Gln)
c.337A>C (p.Lys113Gln)
n.528A>C
c.1411A>C (p.Lys471Gln)
c.2686A>C (p.Lys896Gln)
c.9586A>C (p.Lys3196Gln)
c.9583A>C (p.Lys3195Gln)
c.9595A>C (p.Lys3199Gln)
c.9574A>C (p.Lys3192Gln)
c.9229A>C (p.Lys3077Gln)
c.5575A>C (p.Lys1859Gln)
c.9469A>C (p.Lys3157Gln)
c.9460A>C (p.Lys3154Gln)
c.9475A>C (p.Lys3159Gln)
c.3772A>C (p.Lys1258Gln)
Xg.31206634A=CA2422348458DMDc.4443T= (p.Phe1481=)
c.393T= (p.Phe131=)
n.395T=
c.2217T= (p.Phe739=)
n.1114T=
n.696T=
n.1115T=
n.3089T=
c.1452T= (p.Phe484=)
c.9597T= (p.Phe3199=)
c.5565T= (p.Phe1855=)
c.270T= (p.Phe90=)
c.336T= (p.Phe112=)
n.527T=
c.1410T= (p.Phe470=)
c.2685T= (p.Phe895=)
c.9585T= (p.Phe3195=)
c.9582T= (p.Phe3194=)
c.9594T= (p.Phe3198=)
c.9573T= (p.Phe3191=)
c.9228T= (p.Phe3076=)
c.5574T= (p.Phe1858=)
c.9468T= (p.Phe3156=)
c.9459T= (p.Phe3153=)
c.9474T= (p.Phe3158=)
c.3771T= (p.Phe1257=)
Xg.31206634A>CCA412649534DMDc.4443T>G (p.Phe1481Leu)
c.393T>G (p.Phe131Leu)
n.395T>G
c.2217T>G (p.Phe739Leu)
n.1114T>G
n.696T>G
n.1115T>G
n.3089T>G
c.1452T>G (p.Phe484Leu)
c.9597T>G (p.Phe3199Leu)
c.5565T>G (p.Phe1855Leu)
c.270T>G (p.Phe90Leu)
c.336T>G (p.Phe112Leu)
n.527T>G
c.1410T>G (p.Phe470Leu)
c.2685T>G (p.Phe895Leu)
c.9585T>G (p.Phe3195Leu)
c.9582T>G (p.Phe3194Leu)
c.9594T>G (p.Phe3198Leu)
c.9573T>G (p.Phe3191Leu)
c.9228T>G (p.Phe3076Leu)
c.5574T>G (p.Phe1858Leu)
c.9468T>G (p.Phe3156Leu)
c.9459T>G (p.Phe3153Leu)
c.9474T>G (p.Phe3158Leu)
c.3771T>G (p.Phe1257Leu)
Xg.31206634A>GCA515857071DMDc.4443T>C (p.Phe1481=)
c.393T>C (p.Phe131=)
n.395T>C
c.2217T>C (p.Phe739=)
n.1114T>C
n.696T>C
n.1115T>C
n.3089T>C
c.1452T>C (p.Phe484=)
c.9597T>C (p.Phe3199=)
c.5565T>C (p.Phe1855=)
c.270T>C (p.Phe90=)
c.336T>C (p.Phe112=)
n.527T>C
c.1410T>C (p.Phe470=)
c.2685T>C (p.Phe895=)
c.9585T>C (p.Phe3195=)
c.9582T>C (p.Phe3194=)
c.9594T>C (p.Phe3198=)
c.9573T>C (p.Phe3191=)
c.9228T>C (p.Phe3076=)
c.5574T>C (p.Phe1858=)
c.9468T>C (p.Phe3156=)
c.9459T>C (p.Phe3153=)
c.9474T>C (p.Phe3158=)
c.3771T>C (p.Phe1257=)
Xg.31206634A>TCA328407915DMDc.4443T>A (p.Phe1481Leu)
c.393T>A (p.Phe131Leu)
n.395T>A
c.2217T>A (p.Phe739Leu)
n.1114T>A
n.696T>A
n.1115T>A
n.3089T>A
c.1452T>A (p.Phe484Leu)
c.9597T>A (p.Phe3199Leu)
c.5565T>A (p.Phe1855Leu)
c.270T>A (p.Phe90Leu)
c.336T>A (p.Phe112Leu)
n.527T>A
c.1410T>A (p.Phe470Leu)
c.2685T>A (p.Phe895Leu)
c.9585T>A (p.Phe3195Leu)
c.9582T>A (p.Phe3194Leu)
c.9594T>A (p.Phe3198Leu)
c.9573T>A (p.Phe3191Leu)
c.9228T>A (p.Phe3076Leu)
c.5574T>A (p.Phe1858Leu)
c.9468T>A (p.Phe3156Leu)
c.9459T>A (p.Phe3153Leu)
c.9474T>A (p.Phe3158Leu)
c.3771T>A (p.Phe1257Leu)
 ClinVar dbSNP gnomAD v4
Xg.31206637delCA2563788216DMDc.4443del (p.Phe1481LeufsTer?)
c.393del (p.Phe131LeufsTer?)
n.395del
c.2217del (p.Phe739LeufsTer?)
n.1114del
n.696del
n.1115del
n.3089del
c.1452del (p.Phe484LeufsTer?)
c.9597del (p.Phe3199LeufsTer?)
c.5565del (p.Phe1855LeufsTer?)
c.270del (p.Phe90LeufsTer?)
c.336del (p.Phe112LeufsTer?)
n.527del
c.1410del (p.Phe470LeufsTer?)
c.2685del (p.Phe895LeufsTer?)
c.9585del (p.Phe3195LeufsTer?)
c.9582del (p.Phe3194LeufsTer?)
c.9594del (p.Phe3198LeufsTer?)
c.9573del (p.Phe3191LeufsTer?)
c.9228del (p.Phe3076LeufsTer?)
c.5574del (p.Phe1858LeufsTer?)
c.9468del (p.Phe3156LeufsTer?)
c.9459del (p.Phe3153LeufsTer?)
c.9474del (p.Phe3158LeufsTer?)
c.3771del (p.Phe1257LeufsTer?)
Xg.31206636_31206637delCA2695232313DMDc.4442_4443del (p.Phe1481Ter)
c.392_393del (p.Phe131Ter)
n.394_395del
c.2216_2217del (p.Phe739Ter)
n.1113_1114del
n.695_696del
n.1114_1115del
n.3088_3089del
c.1451_1452del (p.Phe484Ter)
c.9596_9597del (p.Phe3199Ter)
c.5564_5565del (p.Phe1855Ter)
c.269_270del (p.Phe90Ter)
c.335_336del (p.Phe112Ter)
n.526_527del
c.1409_1410del (p.Phe470Ter)
c.2684_2685del (p.Phe895Ter)
c.9584_9585del (p.Phe3195Ter)
c.9581_9582del (p.Phe3194Ter)
c.9593_9594del (p.Phe3198Ter)
c.9572_9573del (p.Phe3191Ter)
c.9227_9228del (p.Phe3076Ter)
c.5573_5574del (p.Phe1858Ter)
c.9467_9468del (p.Phe3156Ter)
c.9458_9459del (p.Phe3153Ter)
c.9473_9474del (p.Phe3158Ter)
c.3770_3771del (p.Phe1257Ter)
Xg.31206635A>CCA412649535DMDc.4442T>G (p.Phe1481Cys)
c.392T>G (p.Phe131Cys)
n.394T>G
c.2216T>G (p.Phe739Cys)
n.1113T>G
n.695T>G
n.1114T>G
n.3088T>G
c.1451T>G (p.Phe484Cys)
c.9596T>G (p.Phe3199Cys)
c.5564T>G (p.Phe1855Cys)
c.269T>G (p.Phe90Cys)
c.335T>G (p.Phe112Cys)
n.526T>G
c.1409T>G (p.Phe470Cys)
c.2684T>G (p.Phe895Cys)
c.9584T>G (p.Phe3195Cys)
c.9581T>G (p.Phe3194Cys)
c.9593T>G (p.Phe3198Cys)
c.9572T>G (p.Phe3191Cys)
c.9227T>G (p.Phe3076Cys)
c.5573T>G (p.Phe1858Cys)
c.9467T>G (p.Phe3156Cys)
c.9458T>G (p.Phe3153Cys)
c.9473T>G (p.Phe3158Cys)
c.3770T>G (p.Phe1257Cys)
Xg.31206635A>GCA412649536DMDc.4442T>C (p.Phe1481Ser)
c.392T>C (p.Phe131Ser)
n.394T>C
c.2216T>C (p.Phe739Ser)
n.1113T>C
n.695T>C
n.1114T>C
n.3088T>C
c.1451T>C (p.Phe484Ser)
c.9596T>C (p.Phe3199Ser)
c.5564T>C (p.Phe1855Ser)
c.269T>C (p.Phe90Ser)
c.335T>C (p.Phe112Ser)
n.526T>C
c.1409T>C (p.Phe470Ser)
c.2684T>C (p.Phe895Ser)
c.9584T>C (p.Phe3195Ser)
c.9581T>C (p.Phe3194Ser)
c.9593T>C (p.Phe3198Ser)
c.9572T>C (p.Phe3191Ser)
c.9227T>C (p.Phe3076Ser)
c.5573T>C (p.Phe1858Ser)
c.9467T>C (p.Phe3156Ser)
c.9458T>C (p.Phe3153Ser)
c.9473T>C (p.Phe3158Ser)
c.3770T>C (p.Phe1257Ser)
Xg.31206635A>TCA412649537DMDc.4442T>A (p.Phe1481Tyr)
c.392T>A (p.Phe131Tyr)
n.394T>A
c.2216T>A (p.Phe739Tyr)
n.1113T>A
n.695T>A
n.1114T>A
n.3088T>A
c.1451T>A (p.Phe484Tyr)
c.9596T>A (p.Phe3199Tyr)
c.5564T>A (p.Phe1855Tyr)
c.269T>A (p.Phe90Tyr)
c.335T>A (p.Phe112Tyr)
n.526T>A
c.1409T>A (p.Phe470Tyr)
c.2684T>A (p.Phe895Tyr)
c.9584T>A (p.Phe3195Tyr)
c.9581T>A (p.Phe3194Tyr)
c.9593T>A (p.Phe3198Tyr)
c.9572T>A (p.Phe3191Tyr)
c.9227T>A (p.Phe3076Tyr)
c.5573T>A (p.Phe1858Tyr)
c.9467T>A (p.Phe3156Tyr)
c.9458T>A (p.Phe3153Tyr)
c.9473T>A (p.Phe3158Tyr)
c.3770T>A (p.Phe1257Tyr)
Xg.31206636A>CCA412649539DMDc.4441T>G (p.Phe1481Val)
c.391T>G (p.Phe131Val)
n.393T>G
c.2215T>G (p.Phe739Val)
n.1112T>G
n.694T>G
n.1113T>G
n.3087T>G
c.1450T>G (p.Phe484Val)
c.9595T>G (p.Phe3199Val)
c.5563T>G (p.Phe1855Val)
c.268T>G (p.Phe90Val)
c.334T>G (p.Phe112Val)
n.525T>G
c.1408T>G (p.Phe470Val)
c.2683T>G (p.Phe895Val)
c.9583T>G (p.Phe3195Val)
c.9580T>G (p.Phe3194Val)
c.9592T>G (p.Phe3198Val)
c.9571T>G (p.Phe3191Val)
c.9226T>G (p.Phe3076Val)
c.5572T>G (p.Phe1858Val)
c.9466T>G (p.Phe3156Val)
c.9457T>G (p.Phe3153Val)
c.9472T>G (p.Phe3158Val)
c.3769T>G (p.Phe1257Val)
Xg.31206636A>GCA412649541DMDc.4441T>C (p.Phe1481Leu)
c.391T>C (p.Phe131Leu)
n.393T>C
c.2215T>C (p.Phe739Leu)
n.1112T>C
n.694T>C
n.1113T>C
n.3087T>C
c.1450T>C (p.Phe484Leu)
c.9595T>C (p.Phe3199Leu)
c.5563T>C (p.Phe1855Leu)
c.268T>C (p.Phe90Leu)
c.334T>C (p.Phe112Leu)
n.525T>C
c.1408T>C (p.Phe470Leu)
c.2683T>C (p.Phe895Leu)
c.9583T>C (p.Phe3195Leu)
c.9580T>C (p.Phe3194Leu)
c.9592T>C (p.Phe3198Leu)
c.9571T>C (p.Phe3191Leu)
c.9226T>C (p.Phe3076Leu)
c.5572T>C (p.Phe1858Leu)
c.9466T>C (p.Phe3156Leu)
c.9457T>C (p.Phe3153Leu)
c.9472T>C (p.Phe3158Leu)
c.3769T>C (p.Phe1257Leu)
Xg.31206636A>TCA412649538DMDc.4441T>A (p.Phe1481Ile)
c.391T>A (p.Phe131Ile)
n.393T>A
c.2215T>A (p.Phe739Ile)
n.1112T>A
n.694T>A
n.1113T>A
n.3087T>A
c.1450T>A (p.Phe484Ile)
c.9595T>A (p.Phe3199Ile)
c.5563T>A (p.Phe1855Ile)
c.268T>A (p.Phe90Ile)
c.334T>A (p.Phe112Ile)
n.525T>A
c.1408T>A (p.Phe470Ile)
c.2683T>A (p.Phe895Ile)
c.9583T>A (p.Phe3195Ile)
c.9580T>A (p.Phe3194Ile)
c.9592T>A (p.Phe3198Ile)
c.9571T>A (p.Phe3191Ile)
c.9226T>A (p.Phe3076Ile)
c.5572T>A (p.Phe1858Ile)
c.9466T>A (p.Phe3156Ile)
c.9457T>A (p.Phe3153Ile)
c.9472T>A (p.Phe3158Ile)
c.3769T>A (p.Phe1257Ile)
Xg.31206637A>CCA515857072DMDc.4440T>G (p.Ser1480=)
c.390T>G (p.Ser130=)
n.392T>G
c.2214T>G (p.Ser738=)
n.1111T>G
n.693T>G
n.1112T>G
n.3086T>G
c.1449T>G (p.Ser483=)
c.9594T>G (p.Ser3198=)
c.5562T>G (p.Ser1854=)
c.267T>G (p.Ser89=)
c.333T>G (p.Ser111=)
n.524T>G
c.1407T>G (p.Ser469=)
c.2682T>G (p.Ser894=)
c.9582T>G (p.Ser3194=)
c.9579T>G (p.Ser3193=)
c.9591T>G (p.Ser3197=)
c.9570T>G (p.Ser3190=)
c.9225T>G (p.Ser3075=)
c.5571T>G (p.Ser1857=)
c.9465T>G (p.Ser3155=)
c.9456T>G (p.Ser3152=)
c.9471T>G (p.Ser3157=)
c.3768T>G (p.Ser1256=)
Xg.31206637A>GCA515857074DMDc.4440T>C (p.Ser1480=)
c.390T>C (p.Ser130=)
n.392T>C
c.2214T>C (p.Ser738=)
n.1111T>C
n.693T>C
n.1112T>C
n.3086T>C
c.1449T>C (p.Ser483=)
c.9594T>C (p.Ser3198=)
c.5562T>C (p.Ser1854=)
c.267T>C (p.Ser89=)
c.333T>C (p.Ser111=)
n.524T>C
c.1407T>C (p.Ser469=)
c.2682T>C (p.Ser894=)
c.9582T>C (p.Ser3194=)
c.9579T>C (p.Ser3193=)
c.9591T>C (p.Ser3197=)
c.9570T>C (p.Ser3190=)
c.9225T>C (p.Ser3075=)
c.5571T>C (p.Ser1857=)
c.9465T>C (p.Ser3155=)
c.9456T>C (p.Ser3152=)
c.9471T>C (p.Ser3157=)
c.3768T>C (p.Ser1256=)
 gnomAD v4
Xg.31206637A>TCA515857073DMDc.4440T>A (p.Ser1480=)
c.390T>A (p.Ser130=)
n.392T>A
c.2214T>A (p.Ser738=)
n.1111T>A
n.693T>A
n.1112T>A
n.3086T>A
c.1449T>A (p.Ser483=)
c.9594T>A (p.Ser3198=)
c.5562T>A (p.Ser1854=)
c.267T>A (p.Ser89=)
c.333T>A (p.Ser111=)
n.524T>A
c.1407T>A (p.Ser469=)
c.2682T>A (p.Ser894=)
c.9582T>A (p.Ser3194=)
c.9579T>A (p.Ser3193=)
c.9591T>A (p.Ser3197=)
c.9570T>A (p.Ser3190=)
c.9225T>A (p.Ser3075=)
c.5571T>A (p.Ser1857=)
c.9465T>A (p.Ser3155=)
c.9456T>A (p.Ser3152=)
c.9471T>A (p.Ser3157=)
c.3768T>A (p.Ser1256=)
 ClinVar dbSNP gnomAD v4
Xg.31206638G>ACA412649543DMDc.4439C>T (p.Ser1480Phe)
c.389C>T (p.Ser130Phe)
n.391C>T
c.2213C>T (p.Ser738Phe)
n.1110C>T
n.692C>T
n.1111C>T
n.3085C>T
c.1448C>T (p.Ser483Phe)
c.9593C>T (p.Ser3198Phe)
c.5561C>T (p.Ser1854Phe)
c.266C>T (p.Ser89Phe)
c.332C>T (p.Ser111Phe)
n.523C>T
c.1406C>T (p.Ser469Phe)
c.2681C>T (p.Ser894Phe)
c.9581C>T (p.Ser3194Phe)
c.9578C>T (p.Ser3193Phe)
c.9590C>T (p.Ser3197Phe)
c.9569C>T (p.Ser3190Phe)
c.9224C>T (p.Ser3075Phe)
c.5570C>T (p.Ser1857Phe)
c.9464C>T (p.Ser3155Phe)
c.9455C>T (p.Ser3152Phe)
c.9470C>T (p.Ser3157Phe)
c.3767C>T (p.Ser1256Phe)
Xg.31206638G>CCA412649544DMDc.4439C>G (p.Ser1480Cys)
c.389C>G (p.Ser130Cys)
n.391C>G
c.2213C>G (p.Ser738Cys)
n.1110C>G
n.692C>G
n.1111C>G
n.3085C>G
c.1448C>G (p.Ser483Cys)
c.9593C>G (p.Ser3198Cys)
c.5561C>G (p.Ser1854Cys)
c.266C>G (p.Ser89Cys)
c.332C>G (p.Ser111Cys)
n.523C>G
c.1406C>G (p.Ser469Cys)
c.2681C>G (p.Ser894Cys)
c.9581C>G (p.Ser3194Cys)
c.9578C>G (p.Ser3193Cys)
c.9590C>G (p.Ser3197Cys)
c.9569C>G (p.Ser3190Cys)
c.9224C>G (p.Ser3075Cys)
c.5570C>G (p.Ser1857Cys)
c.9464C>G (p.Ser3155Cys)
c.9455C>G (p.Ser3152Cys)
c.9470C>G (p.Ser3157Cys)
c.3767C>G (p.Ser1256Cys)
Xg.31206638G>TCA412649545DMDc.4439C>A (p.Ser1480Tyr)
c.389C>A (p.Ser130Tyr)
n.391C>A
c.2213C>A (p.Ser738Tyr)
n.1110C>A
n.692C>A
n.1111C>A
n.3085C>A
c.1448C>A (p.Ser483Tyr)
c.9593C>A (p.Ser3198Tyr)
c.5561C>A (p.Ser1854Tyr)
c.266C>A (p.Ser89Tyr)
c.332C>A (p.Ser111Tyr)
n.523C>A
c.1406C>A (p.Ser469Tyr)
c.2681C>A (p.Ser894Tyr)
c.9581C>A (p.Ser3194Tyr)
c.9578C>A (p.Ser3193Tyr)
c.9590C>A (p.Ser3197Tyr)
c.9569C>A (p.Ser3190Tyr)
c.9224C>A (p.Ser3075Tyr)
c.5570C>A (p.Ser1857Tyr)
c.9464C>A (p.Ser3155Tyr)
c.9455C>A (p.Ser3152Tyr)
c.9470C>A (p.Ser3157Tyr)
c.3767C>A (p.Ser1256Tyr)
Xg.31206639A=CA2422348459DMDc.4438T= (p.Ser1480=)
c.388T= (p.Ser130=)
n.390T=
c.2212T= (p.Ser738=)
n.1109T=
n.691T=
n.1110T=
n.3084T=
c.1447T= (p.Ser483=)
c.9592T= (p.Ser3198=)
c.5560T= (p.Ser1854=)
c.265T= (p.Ser89=)
c.331T= (p.Ser111=)
n.522T=
c.1405T= (p.Ser469=)
c.2680T= (p.Ser894=)
c.9580T= (p.Ser3194=)
c.9577T= (p.Ser3193=)
c.9589T= (p.Ser3197=)
c.9568T= (p.Ser3190=)
c.9223T= (p.Ser3075=)
c.5569T= (p.Ser1857=)
c.9463T= (p.Ser3155=)
c.9454T= (p.Ser3152=)
c.9469T= (p.Ser3157=)
c.3766T= (p.Ser1256=)
Xg.31206639A>CCA412649548DMDc.4438T>G (p.Ser1480Ala)
c.388T>G (p.Ser130Ala)
n.390T>G
c.2212T>G (p.Ser738Ala)
n.1109T>G
n.691T>G
n.1110T>G
n.3084T>G
c.1447T>G (p.Ser483Ala)
c.9592T>G (p.Ser3198Ala)
c.5560T>G (p.Ser1854Ala)
c.265T>G (p.Ser89Ala)
c.331T>G (p.Ser111Ala)
n.522T>G
c.1405T>G (p.Ser469Ala)
c.2680T>G (p.Ser894Ala)
c.9580T>G (p.Ser3194Ala)
c.9577T>G (p.Ser3193Ala)
c.9589T>G (p.Ser3197Ala)
c.9568T>G (p.Ser3190Ala)
c.9223T>G (p.Ser3075Ala)
c.5569T>G (p.Ser1857Ala)
c.9463T>G (p.Ser3155Ala)
c.9454T>G (p.Ser3152Ala)
c.9469T>G (p.Ser3157Ala)
c.3766T>G (p.Ser1256Ala)
 dbSNP
Xg.31206639A>GCA412649549DMDc.4438T>C (p.Ser1480Pro)
c.388T>C (p.Ser130Pro)
n.390T>C
c.2212T>C (p.Ser738Pro)
n.1109T>C
n.691T>C
n.1110T>C
n.3084T>C
c.1447T>C (p.Ser483Pro)
c.9592T>C (p.Ser3198Pro)
c.5560T>C (p.Ser1854Pro)
c.265T>C (p.Ser89Pro)
c.331T>C (p.Ser111Pro)
n.522T>C
c.1405T>C (p.Ser469Pro)
c.2680T>C (p.Ser894Pro)
c.9580T>C (p.Ser3194Pro)
c.9577T>C (p.Ser3193Pro)
c.9589T>C (p.Ser3197Pro)
c.9568T>C (p.Ser3190Pro)
c.9223T>C (p.Ser3075Pro)
c.5569T>C (p.Ser1857Pro)
c.9463T>C (p.Ser3155Pro)
c.9454T>C (p.Ser3152Pro)
c.9469T>C (p.Ser3157Pro)
c.3766T>C (p.Ser1256Pro)
Xg.31206639A>TCA412649551DMDc.4438T>A (p.Ser1480Thr)
c.388T>A (p.Ser130Thr)
n.390T>A
c.2212T>A (p.Ser738Thr)
n.1109T>A
n.691T>A
n.1110T>A
n.3084T>A
c.1447T>A (p.Ser483Thr)
c.9592T>A (p.Ser3198Thr)
c.5560T>A (p.Ser1854Thr)
c.265T>A (p.Ser89Thr)
c.331T>A (p.Ser111Thr)
n.522T>A
c.1405T>A (p.Ser469Thr)
c.2680T>A (p.Ser894Thr)
c.9580T>A (p.Ser3194Thr)
c.9577T>A (p.Ser3193Thr)
c.9589T>A (p.Ser3197Thr)
c.9568T>A (p.Ser3190Thr)
c.9223T>A (p.Ser3075Thr)
c.5569T>A (p.Ser1857Thr)
c.9463T>A (p.Ser3155Thr)
c.9454T>A (p.Ser3152Thr)
c.9469T>A (p.Ser3157Thr)
c.3766T>A (p.Ser1256Thr)
Xg.31206640C>ACA515857075DMDc.4437G>T (p.Leu1479=)
c.387G>T (p.Leu129=)
n.389G>T
c.2211G>T (p.Leu737=)
n.1108G>T
n.690G>T
n.1109G>T
n.3083G>T
c.1446G>T (p.Leu482=)
c.9591G>T (p.Leu3197=)
c.5559G>T (p.Leu1853=)
c.264G>T (p.Leu88=)
c.330G>T (p.Leu110=)
n.521G>T
c.1404G>T (p.Leu468=)
c.2679G>T (p.Leu893=)
c.9579G>T (p.Leu3193=)
c.9576G>T (p.Leu3192=)
c.9588G>T (p.Leu3196=)
c.9567G>T (p.Leu3189=)
c.9222G>T (p.Leu3074=)
c.5568G>T (p.Leu1856=)
c.9462G>T (p.Leu3154=)
c.9453G>T (p.Leu3151=)
c.9468G>T (p.Leu3156=)
c.3765G>T (p.Leu1255=)
Xg.31206640C=CA2422348460DMDc.4437G= (p.Leu1479=)
c.387G= (p.Leu129=)
n.389G=
c.2211G= (p.Leu737=)
n.1108G=
n.690G=
n.1109G=
n.3083G=
c.1446G= (p.Leu482=)
c.9591G= (p.Leu3197=)
c.5559G= (p.Leu1853=)
c.264G= (p.Leu88=)
c.330G= (p.Leu110=)
n.521G=
c.1404G= (p.Leu468=)
c.2679G= (p.Leu893=)
c.9579G= (p.Leu3193=)
c.9576G= (p.Leu3192=)
c.9588G= (p.Leu3196=)
c.9567G= (p.Leu3189=)
c.9222G= (p.Leu3074=)
c.5568G= (p.Leu1856=)
c.9462G= (p.Leu3154=)
c.9453G= (p.Leu3151=)
c.9468G= (p.Leu3156=)
c.3765G= (p.Leu1255=)
Xg.31206640C>GCA515857076DMDc.4437G>C (p.Leu1479=)
c.387G>C (p.Leu129=)
n.389G>C
c.2211G>C (p.Leu737=)
n.1108G>C
n.690G>C
n.1109G>C
n.3083G>C
c.1446G>C (p.Leu482=)
c.9591G>C (p.Leu3197=)
c.5559G>C (p.Leu1853=)
c.264G>C (p.Leu88=)
c.330G>C (p.Leu110=)
n.521G>C
c.1404G>C (p.Leu468=)
c.2679G>C (p.Leu893=)
c.9579G>C (p.Leu3193=)
c.9576G>C (p.Leu3192=)
c.9588G>C (p.Leu3196=)
c.9567G>C (p.Leu3189=)
c.9222G>C (p.Leu3074=)
c.5568G>C (p.Leu1856=)
c.9462G>C (p.Leu3154=)
c.9453G>C (p.Leu3151=)
c.9468G>C (p.Leu3156=)
c.3765G>C (p.Leu1255=)
Xg.31206640C>TCA10377772DMDc.4437G>A (p.Leu1479=)
c.387G>A (p.Leu129=)
n.389G>A
c.2211G>A (p.Leu737=)
n.1108G>A
n.690G>A
n.1109G>A
n.3083G>A
c.1446G>A (p.Leu482=)
c.9591G>A (p.Leu3197=)
c.5559G>A (p.Leu1853=)
c.264G>A (p.Leu88=)
c.330G>A (p.Leu110=)
n.521G>A
c.1404G>A (p.Leu468=)
c.2679G>A (p.Leu893=)
c.9579G>A (p.Leu3193=)
c.9576G>A (p.Leu3192=)
c.9588G>A (p.Leu3196=)
c.9567G>A (p.Leu3189=)
c.9222G>A (p.Leu3074=)
c.5568G>A (p.Leu1856=)
c.9462G>A (p.Leu3154=)
c.9453G>A (p.Leu3151=)
c.9468G>A (p.Leu3156=)
c.3765G>A (p.Leu1255=)
 ClinVar dbSNP ExAC gnomAD v2
Xg.31206641A>CCA412649555DMDc.4436T>G (p.Leu1479Arg)
c.386T>G (p.Leu129Arg)
n.388T>G
c.2210T>G (p.Leu737Arg)
n.1107T>G
n.689T>G
n.1108T>G
n.3082T>G
c.1445T>G (p.Leu482Arg)
c.9590T>G (p.Leu3197Arg)
c.5558T>G (p.Leu1853Arg)
c.263T>G (p.Leu88Arg)
c.329T>G (p.Leu110Arg)
n.520T>G
c.1403T>G (p.Leu468Arg)
c.2678T>G (p.Leu893Arg)
c.9578T>G (p.Leu3193Arg)
c.9575T>G (p.Leu3192Arg)
c.9587T>G (p.Leu3196Arg)
c.9566T>G (p.Leu3189Arg)
c.9221T>G (p.Leu3074Arg)
c.5567T>G (p.Leu1856Arg)
c.9461T>G (p.Leu3154Arg)
c.9452T>G (p.Leu3151Arg)
c.9467T>G (p.Leu3156Arg)
c.3764T>G (p.Leu1255Arg)
Xg.31206641A>GCA412649557DMDc.4436T>C (p.Leu1479Pro)
c.386T>C (p.Leu129Pro)
n.388T>C
c.2210T>C (p.Leu737Pro)
n.1107T>C
n.689T>C
n.1108T>C
n.3082T>C
c.1445T>C (p.Leu482Pro)
c.9590T>C (p.Leu3197Pro)
c.5558T>C (p.Leu1853Pro)
c.263T>C (p.Leu88Pro)
c.329T>C (p.Leu110Pro)
n.520T>C
c.1403T>C (p.Leu468Pro)
c.2678T>C (p.Leu893Pro)
c.9578T>C (p.Leu3193Pro)
c.9575T>C (p.Leu3192Pro)
c.9587T>C (p.Leu3196Pro)
c.9566T>C (p.Leu3189Pro)
c.9221T>C (p.Leu3074Pro)
c.5567T>C (p.Leu1856Pro)
c.9461T>C (p.Leu3154Pro)
c.9452T>C (p.Leu3151Pro)
c.9467T>C (p.Leu3156Pro)
c.3764T>C (p.Leu1255Pro)
Xg.31206641A>TCA412649558DMDc.4436T>A (p.Leu1479Gln)
c.386T>A (p.Leu129Gln)
n.388T>A
c.2210T>A (p.Leu737Gln)
n.1107T>A
n.689T>A
n.1108T>A
n.3082T>A
c.1445T>A (p.Leu482Gln)
c.9590T>A (p.Leu3197Gln)
c.5558T>A (p.Leu1853Gln)
c.263T>A (p.Leu88Gln)
c.329T>A (p.Leu110Gln)
n.520T>A
c.1403T>A (p.Leu468Gln)
c.2678T>A (p.Leu893Gln)
c.9578T>A (p.Leu3193Gln)
c.9575T>A (p.Leu3192Gln)
c.9587T>A (p.Leu3196Gln)
c.9566T>A (p.Leu3189Gln)
c.9221T>A (p.Leu3074Gln)
c.5567T>A (p.Leu1856Gln)
c.9461T>A (p.Leu3154Gln)
c.9452T>A (p.Leu3151Gln)
c.9467T>A (p.Leu3156Gln)
c.3764T>A (p.Leu1255Gln)
Xg.31206642G>ACA515857077DMDc.4435C>T (p.Leu1479=)
c.385C>T (p.Leu129=)
n.387C>T
c.2209C>T (p.Leu737=)
n.1106C>T
n.688C>T
n.1107C>T
n.3081C>T
c.1444C>T (p.Leu482=)
c.9589C>T (p.Leu3197=)
c.5557C>T (p.Leu1853=)
c.262C>T (p.Leu88=)
c.328C>T (p.Leu110=)
n.519C>T
c.1402C>T (p.Leu468=)
c.2677C>T (p.Leu893=)
c.9577C>T (p.Leu3193=)
c.9574C>T (p.Leu3192=)
c.9586C>T (p.Leu3196=)
c.9565C>T (p.Leu3189=)
c.9220C>T (p.Leu3074=)
c.5566C>T (p.Leu1856=)
c.9460C>T (p.Leu3154=)
c.9451C>T (p.Leu3151=)
c.9466C>T (p.Leu3156=)
c.3763C>T (p.Leu1255=)
Xg.31206642G>CCA412649560DMDc.4435C>G (p.Leu1479Val)
c.385C>G (p.Leu129Val)
n.387C>G
c.2209C>G (p.Leu737Val)
n.1106C>G
n.688C>G
n.1107C>G
n.3081C>G
c.1444C>G (p.Leu482Val)
c.9589C>G (p.Leu3197Val)
c.5557C>G (p.Leu1853Val)
c.262C>G (p.Leu88Val)
c.328C>G (p.Leu110Val)
n.519C>G
c.1402C>G (p.Leu468Val)
c.2677C>G (p.Leu893Val)
c.9577C>G (p.Leu3193Val)
c.9574C>G (p.Leu3192Val)
c.9586C>G (p.Leu3196Val)
c.9565C>G (p.Leu3189Val)
c.9220C>G (p.Leu3074Val)
c.5566C>G (p.Leu1856Val)
c.9460C>G (p.Leu3154Val)
c.9451C>G (p.Leu3151Val)
c.9466C>G (p.Leu3156Val)
c.3763C>G (p.Leu1255Val)
Xg.31206642G>TCA412649561DMDc.4435C>A (p.Leu1479Met)
c.385C>A (p.Leu129Met)
n.387C>A
c.2209C>A (p.Leu737Met)
n.1106C>A
n.688C>A
n.1107C>A
n.3081C>A
c.1444C>A (p.Leu482Met)
c.9589C>A (p.Leu3197Met)
c.5557C>A (p.Leu1853Met)
c.262C>A (p.Leu88Met)
c.328C>A (p.Leu110Met)
n.519C>A
c.1402C>A (p.Leu468Met)
c.2677C>A (p.Leu893Met)
c.9577C>A (p.Leu3193Met)
c.9574C>A (p.Leu3192Met)
c.9586C>A (p.Leu3196Met)
c.9565C>A (p.Leu3189Met)
c.9220C>A (p.Leu3074Met)
c.5566C>A (p.Leu1856Met)
c.9460C>A (p.Leu3154Met)
c.9451C>A (p.Leu3151Met)
c.9466C>A (p.Leu3156Met)
c.3763C>A (p.Leu1255Met)
Xg.31206643G>ACA515857078DMDc.4434C>T (p.Val1478=)
c.384C>T (p.Val128=)
n.386C>T
c.2208C>T (p.Val736=)
n.1105C>T
n.687C>T
n.1106C>T
n.3080C>T
c.1443C>T (p.Val481=)
c.9588C>T (p.Val3196=)
c.5556C>T (p.Val1852=)
c.261C>T (p.Val87=)
c.327C>T (p.Val109=)
n.518C>T
c.1401C>T (p.Val467=)
c.2676C>T (p.Val892=)
c.9576C>T (p.Val3192=)
c.9573C>T (p.Val3191=)
c.9585C>T (p.Val3195=)
c.9564C>T (p.Val3188=)
c.9219C>T (p.Val3073=)
c.5565C>T (p.Val1855=)
c.9459C>T (p.Val3153=)
c.9450C>T (p.Val3150=)
c.9465C>T (p.Val3155=)
c.3762C>T (p.Val1254=)
Xg.31206643G>CCA10377773DMDc.4434C>G (p.Val1478=)
c.384C>G (p.Val128=)
n.386C>G
c.2208C>G (p.Val736=)
n.1105C>G
n.687C>G
n.1106C>G
n.3080C>G
c.1443C>G (p.Val481=)
c.9588C>G (p.Val3196=)
c.5556C>G (p.Val1852=)
c.261C>G (p.Val87=)
c.327C>G (p.Val109=)
n.518C>G
c.1401C>G (p.Val467=)
c.2676C>G (p.Val892=)
c.9576C>G (p.Val3192=)
c.9573C>G (p.Val3191=)
c.9585C>G (p.Val3195=)
c.9564C>G (p.Val3188=)
c.9219C>G (p.Val3073=)
c.5565C>G (p.Val1855=)
c.9459C>G (p.Val3153=)
c.9450C>G (p.Val3150=)
c.9465C>G (p.Val3155=)
c.3762C>G (p.Val1254=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31206643G=CA2422348461DMDc.4434C= (p.Val1478=)
c.384C= (p.Val128=)
n.386C=
c.2208C= (p.Val736=)
n.1105C=
n.687C=
n.1106C=
n.3080C=
c.1443C= (p.Val481=)
c.9588C= (p.Val3196=)
c.5556C= (p.Val1852=)
c.261C= (p.Val87=)
c.327C= (p.Val109=)
n.518C=
c.1401C= (p.Val467=)
c.2676C= (p.Val892=)
c.9576C= (p.Val3192=)
c.9573C= (p.Val3191=)
c.9585C= (p.Val3195=)
c.9564C= (p.Val3188=)
c.9219C= (p.Val3073=)
c.5565C= (p.Val1855=)
c.9459C= (p.Val3153=)
c.9450C= (p.Val3150=)
c.9465C= (p.Val3155=)
c.3762C= (p.Val1254=)
Xg.31206643G>TCA515857079DMDc.4434C>A (p.Val1478=)
c.384C>A (p.Val128=)
n.386C>A
c.2208C>A (p.Val736=)
n.1105C>A
n.687C>A
n.1106C>A
n.3080C>A
c.1443C>A (p.Val481=)
c.9588C>A (p.Val3196=)
c.5556C>A (p.Val1852=)
c.261C>A (p.Val87=)
c.327C>A (p.Val109=)
n.518C>A
c.1401C>A (p.Val467=)
c.2676C>A (p.Val892=)
c.9576C>A (p.Val3192=)
c.9573C>A (p.Val3191=)
c.9585C>A (p.Val3195=)
c.9564C>A (p.Val3188=)
c.9219C>A (p.Val3073=)
c.5565C>A (p.Val1855=)
c.9459C>A (p.Val3153=)
c.9450C>A (p.Val3150=)
c.9465C>A (p.Val3155=)
c.3762C>A (p.Val1254=)
Xg.31206644A>CCA412649568DMDc.4433T>G (p.Val1478Gly)
c.383T>G (p.Val128Gly)
n.385T>G
c.2207T>G (p.Val736Gly)
n.1104T>G
n.686T>G
n.1105T>G
n.3079T>G
c.1442T>G (p.Val481Gly)
c.9587T>G (p.Val3196Gly)
c.5555T>G (p.Val1852Gly)
c.260T>G (p.Val87Gly)
c.326T>G (p.Val109Gly)
n.517T>G
c.1400T>G (p.Val467Gly)
c.2675T>G (p.Val892Gly)
c.9575T>G (p.Val3192Gly)
c.9572T>G (p.Val3191Gly)
c.9584T>G (p.Val3195Gly)
c.9563T>G (p.Val3188Gly)
c.9218T>G (p.Val3073Gly)
c.5564T>G (p.Val1855Gly)
c.9458T>G (p.Val3153Gly)
c.9449T>G (p.Val3150Gly)
c.9464T>G (p.Val3155Gly)
c.3761T>G (p.Val1254Gly)
Xg.31206644A>GCA412649565DMDc.4433T>C (p.Val1478Ala)
c.383T>C (p.Val128Ala)
n.385T>C
c.2207T>C (p.Val736Ala)
n.1104T>C
n.686T>C
n.1105T>C
n.3079T>C
c.1442T>C (p.Val481Ala)
c.9587T>C (p.Val3196Ala)
c.5555T>C (p.Val1852Ala)
c.260T>C (p.Val87Ala)
c.326T>C (p.Val109Ala)
n.517T>C
c.1400T>C (p.Val467Ala)
c.2675T>C (p.Val892Ala)
c.9575T>C (p.Val3192Ala)
c.9572T>C (p.Val3191Ala)
c.9584T>C (p.Val3195Ala)
c.9563T>C (p.Val3188Ala)
c.9218T>C (p.Val3073Ala)
c.5564T>C (p.Val1855Ala)
c.9458T>C (p.Val3153Ala)
c.9449T>C (p.Val3150Ala)
c.9464T>C (p.Val3155Ala)
c.3761T>C (p.Val1254Ala)
Xg.31206644A>TCA412649564DMDc.4433T>A (p.Val1478Asp)
c.383T>A (p.Val128Asp)
n.385T>A
c.2207T>A (p.Val736Asp)
n.1104T>A
n.686T>A
n.1105T>A
n.3079T>A
c.1442T>A (p.Val481Asp)
c.9587T>A (p.Val3196Asp)
c.5555T>A (p.Val1852Asp)
c.260T>A (p.Val87Asp)
c.326T>A (p.Val109Asp)
n.517T>A
c.1400T>A (p.Val467Asp)
c.2675T>A (p.Val892Asp)
c.9575T>A (p.Val3192Asp)
c.9572T>A (p.Val3191Asp)
c.9584T>A (p.Val3195Asp)
c.9563T>A (p.Val3188Asp)
c.9218T>A (p.Val3073Asp)
c.5564T>A (p.Val1855Asp)
c.9458T>A (p.Val3153Asp)
c.9449T>A (p.Val3150Asp)
c.9464T>A (p.Val3155Asp)
c.3761T>A (p.Val1254Asp)
Xg.31206645C>ACA412649569DMDc.4432G>T (p.Val1478Phe)
c.382G>T (p.Val128Phe)
n.384G>T
c.2206G>T (p.Val736Phe)
n.1103G>T
n.685G>T
n.1104G>T
n.3078G>T
c.1441G>T (p.Val481Phe)
c.9586G>T (p.Val3196Phe)
c.5554G>T (p.Val1852Phe)
c.259G>T (p.Val87Phe)
c.325G>T (p.Val109Phe)
n.516G>T
c.1399G>T (p.Val467Phe)
c.2674G>T (p.Val892Phe)
c.9574G>T (p.Val3192Phe)
c.9571G>T (p.Val3191Phe)
c.9583G>T (p.Val3195Phe)
c.9562G>T (p.Val3188Phe)
c.9217G>T (p.Val3073Phe)
c.5563G>T (p.Val1855Phe)
c.9457G>T (p.Val3153Phe)
c.9448G>T (p.Val3150Phe)
c.9463G>T (p.Val3155Phe)
c.3760G>T (p.Val1254Phe)
Xg.31206645C>GCA412649570DMDc.4432G>C (p.Val1478Leu)
c.382G>C (p.Val128Leu)
n.384G>C
c.2206G>C (p.Val736Leu)
n.1103G>C
n.685G>C
n.1104G>C
n.3078G>C
c.1441G>C (p.Val481Leu)
c.9586G>C (p.Val3196Leu)
c.5554G>C (p.Val1852Leu)
c.259G>C (p.Val87Leu)
c.325G>C (p.Val109Leu)
n.516G>C
c.1399G>C (p.Val467Leu)
c.2674G>C (p.Val892Leu)
c.9574G>C (p.Val3192Leu)
c.9571G>C (p.Val3191Leu)
c.9583G>C (p.Val3195Leu)
c.9562G>C (p.Val3188Leu)
c.9217G>C (p.Val3073Leu)
c.5563G>C (p.Val1855Leu)
c.9457G>C (p.Val3153Leu)
c.9448G>C (p.Val3150Leu)
c.9463G>C (p.Val3155Leu)
c.3760G>C (p.Val1254Leu)
Xg.31206645C>TCA412649572DMDc.4432G>A (p.Val1478Ile)
c.382G>A (p.Val128Ile)
n.384G>A
c.2206G>A (p.Val736Ile)
n.1103G>A
n.685G>A
n.1104G>A
n.3078G>A
c.1441G>A (p.Val481Ile)
c.9586G>A (p.Val3196Ile)
c.5554G>A (p.Val1852Ile)
c.259G>A (p.Val87Ile)
c.325G>A (p.Val109Ile)
n.516G>A
c.1399G>A (p.Val467Ile)
c.2674G>A (p.Val892Ile)
c.9574G>A (p.Val3192Ile)
c.9571G>A (p.Val3191Ile)
c.9583G>A (p.Val3195Ile)
c.9562G>A (p.Val3188Ile)
c.9217G>A (p.Val3073Ile)
c.5563G>A (p.Val1855Ile)
c.9457G>A (p.Val3153Ile)
c.9448G>A (p.Val3150Ile)
c.9463G>A (p.Val3155Ile)
c.3760G>A (p.Val1254Ile)
Xg.31206646A>CCA515857081DMDc.4431T>G (p.Arg1477=)
c.381T>G (p.Arg127=)
n.383T>G
c.2205T>G (p.Arg735=)
n.1102T>G
n.684T>G
n.1103T>G
n.3077T>G
c.1440T>G (p.Arg480=)
c.9585T>G (p.Arg3195=)
c.5553T>G (p.Arg1851=)
c.258T>G (p.Arg86=)
c.324T>G (p.Arg108=)
n.515T>G
c.1398T>G (p.Arg466=)
c.2673T>G (p.Arg891=)
c.9573T>G (p.Arg3191=)
c.9570T>G (p.Arg3190=)
c.9582T>G (p.Arg3194=)
c.9561T>G (p.Arg3187=)
c.9216T>G (p.Arg3072=)
c.5562T>G (p.Arg1854=)
c.9456T>G (p.Arg3152=)
c.9447T>G (p.Arg3149=)
c.9462T>G (p.Arg3154=)
c.3759T>G (p.Arg1253=)
Xg.31206646A>GCA515857082DMDc.4431T>C (p.Arg1477=)
c.381T>C (p.Arg127=)
n.383T>C
c.2205T>C (p.Arg735=)
n.1102T>C
n.684T>C
n.1103T>C
n.3077T>C
c.1440T>C (p.Arg480=)
c.9585T>C (p.Arg3195=)
c.5553T>C (p.Arg1851=)
c.258T>C (p.Arg86=)
c.324T>C (p.Arg108=)
n.515T>C
c.1398T>C (p.Arg466=)
c.2673T>C (p.Arg891=)
c.9573T>C (p.Arg3191=)
c.9570T>C (p.Arg3190=)
c.9582T>C (p.Arg3194=)
c.9561T>C (p.Arg3187=)
c.9216T>C (p.Arg3072=)
c.5562T>C (p.Arg1854=)
c.9456T>C (p.Arg3152=)
c.9447T>C (p.Arg3149=)
c.9462T>C (p.Arg3154=)
c.3759T>C (p.Arg1253=)
Xg.31206646A>TCA515857080DMDc.4431T>A (p.Arg1477=)
c.381T>A (p.Arg127=)
n.383T>A
c.2205T>A (p.Arg735=)
n.1102T>A
n.684T>A
n.1103T>A
n.3077T>A
c.1440T>A (p.Arg480=)
c.9585T>A (p.Arg3195=)
c.5553T>A (p.Arg1851=)
c.258T>A (p.Arg86=)
c.324T>A (p.Arg108=)
n.515T>A
c.1398T>A (p.Arg466=)
c.2673T>A (p.Arg891=)
c.9573T>A (p.Arg3191=)
c.9570T>A (p.Arg3190=)
c.9582T>A (p.Arg3194=)
c.9561T>A (p.Arg3187=)
c.9216T>A (p.Arg3072=)
c.5562T>A (p.Arg1854=)
c.9456T>A (p.Arg3152=)
c.9447T>A (p.Arg3149=)
c.9462T>A (p.Arg3154=)
c.3759T>A (p.Arg1253=)
Xg.31206647C>ACA412649574DMDc.4430G>T (p.Arg1477Leu)
c.380G>T (p.Arg127Leu)
n.382G>T
c.2204G>T (p.Arg735Leu)
n.1101G>T
n.683G>T
n.1102G>T
n.3076G>T
c.1439G>T (p.Arg480Leu)
c.9584G>T (p.Arg3195Leu)
c.5552G>T (p.Arg1851Leu)
c.257G>T (p.Arg86Leu)
c.323G>T (p.Arg108Leu)
n.514G>T
c.1397G>T (p.Arg466Leu)
c.2672G>T (p.Arg891Leu)
c.9572G>T (p.Arg3191Leu)
c.9569G>T (p.Arg3190Leu)
c.9581G>T (p.Arg3194Leu)
c.9560G>T (p.Arg3187Leu)
c.9215G>T (p.Arg3072Leu)
c.5561G>T (p.Arg1854Leu)
c.9455G>T (p.Arg3152Leu)
c.9446G>T (p.Arg3149Leu)
c.9461G>T (p.Arg3154Leu)
c.3758G>T (p.Arg1253Leu)
Xg.31206647C=CA2422348462DMDc.4430G= (p.Arg1477=)
c.380G= (p.Arg127=)
n.382G=
c.2204G= (p.Arg735=)
n.1101G=
n.683G=
n.1102G=
n.3076G=
c.1439G= (p.Arg480=)
c.9584G= (p.Arg3195=)
c.5552G= (p.Arg1851=)
c.257G= (p.Arg86=)
c.323G= (p.Arg108=)
n.514G=
c.1397G= (p.Arg466=)
c.2672G= (p.Arg891=)
c.9572G= (p.Arg3191=)
c.9569G= (p.Arg3190=)
c.9581G= (p.Arg3194=)
c.9560G= (p.Arg3187=)
c.9215G= (p.Arg3072=)
c.5561G= (p.Arg1854=)
c.9455G= (p.Arg3152=)
c.9446G= (p.Arg3149=)
c.9461G= (p.Arg3154=)
c.3758G= (p.Arg1253=)
Xg.31206647C>GCA412649575DMDc.4430G>C (p.Arg1477Pro)
c.380G>C (p.Arg127Pro)
n.382G>C
c.2204G>C (p.Arg735Pro)
n.1101G>C
n.683G>C
n.1102G>C
n.3076G>C
c.1439G>C (p.Arg480Pro)
c.9584G>C (p.Arg3195Pro)
c.5552G>C (p.Arg1851Pro)
c.257G>C (p.Arg86Pro)
c.323G>C (p.Arg108Pro)
n.514G>C
c.1397G>C (p.Arg466Pro)
c.2672G>C (p.Arg891Pro)
c.9572G>C (p.Arg3191Pro)
c.9569G>C (p.Arg3190Pro)
c.9581G>C (p.Arg3194Pro)
c.9560G>C (p.Arg3187Pro)
c.9215G>C (p.Arg3072Pro)
c.5561G>C (p.Arg1854Pro)
c.9455G>C (p.Arg3152Pro)
c.9446G>C (p.Arg3149Pro)
c.9461G>C (p.Arg3154Pro)
c.3758G>C (p.Arg1253Pro)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31206647C>TCA10377774DMDc.4430G>A (p.Arg1477His)
c.380G>A (p.Arg127His)
n.382G>A
c.2204G>A (p.Arg735His)
n.1101G>A
n.683G>A
n.1102G>A
n.3076G>A
c.1439G>A (p.Arg480His)
c.9584G>A (p.Arg3195His)
c.5552G>A (p.Arg1851His)
c.257G>A (p.Arg86His)
c.323G>A (p.Arg108His)
n.514G>A
c.1397G>A (p.Arg466His)
c.2672G>A (p.Arg891His)
c.9572G>A (p.Arg3191His)
c.9569G>A (p.Arg3190His)
c.9581G>A (p.Arg3194His)
c.9560G>A (p.Arg3187His)
c.9215G>A (p.Arg3072His)
c.5561G>A (p.Arg1854His)
c.9455G>A (p.Arg3152His)
c.9446G>A (p.Arg3149His)
c.9461G>A (p.Arg3154His)
c.3758G>A (p.Arg1253His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.31206647_31206648insATCA2695232314DMDc.4429_4430insAT (p.Arg1477HisfsTer?)
c.379_380insAT (p.Arg127HisfsTer?)
n.381_382insAT
c.2203_2204insAT (p.Arg735HisfsTer?)
n.1100_1101insAT
n.682_683insAT
n.1101_1102insAT
n.3075_3076insAT
c.1438_1439insAT (p.Arg480HisfsTer?)
c.9583_9584insAT (p.Arg3195HisfsTer?)
c.5551_5552insAT (p.Arg1851HisfsTer?)
c.256_257insAT (p.Arg86HisfsTer?)
c.322_323insAT (p.Arg108HisfsTer?)
n.513_514insAT
c.1396_1397insAT (p.Arg466HisfsTer?)
c.2671_2672insAT (p.Arg891HisfsTer?)
c.9571_9572insAT (p.Arg3191HisfsTer?)
c.9568_9569insAT (p.Arg3190HisfsTer?)
c.9580_9581insAT (p.Arg3194HisfsTer?)
c.9559_9560insAT (p.Arg3187HisfsTer?)
c.9214_9215insAT (p.Arg3072HisfsTer?)
c.5560_5561insAT (p.Arg1854HisfsTer?)
c.9454_9455insAT (p.Arg3152HisfsTer?)
c.9445_9446insAT (p.Arg3149HisfsTer?)
c.9460_9461insAT (p.Arg3154HisfsTer?)
c.3757_3758insAT (p.Arg1253HisfsTer?)
Xg.31206648G>ACA412649576DMDc.4429C>T (p.Arg1477Cys)
c.379C>T (p.Arg127Cys)
n.381C>T
c.2203C>T (p.Arg735Cys)
n.1100C>T
n.682C>T
n.1101C>T
n.3075C>T
c.1438C>T (p.Arg480Cys)
c.9583C>T (p.Arg3195Cys)
c.5551C>T (p.Arg1851Cys)
c.256C>T (p.Arg86Cys)
c.322C>T (p.Arg108Cys)
n.513C>T
c.1396C>T (p.Arg466Cys)
c.2671C>T (p.Arg891Cys)
c.9571C>T (p.Arg3191Cys)
c.9568C>T (p.Arg3190Cys)
c.9580C>T (p.Arg3194Cys)
c.9559C>T (p.Arg3187Cys)
c.9214C>T (p.Arg3072Cys)
c.5560C>T (p.Arg1854Cys)
c.9454C>T (p.Arg3152Cys)
c.9445C>T (p.Arg3149Cys)
c.9460C>T (p.Arg3154Cys)
c.3757C>T (p.Arg1253Cys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31206648G>CCA412649579DMDc.4429C>G (p.Arg1477Gly)
c.379C>G (p.Arg127Gly)
n.381C>G
c.2203C>G (p.Arg735Gly)
n.1100C>G
n.682C>G
n.1101C>G
n.3075C>G
c.1438C>G (p.Arg480Gly)
c.9583C>G (p.Arg3195Gly)
c.5551C>G (p.Arg1851Gly)
c.256C>G (p.Arg86Gly)
c.322C>G (p.Arg108Gly)
n.513C>G
c.1396C>G (p.Arg466Gly)
c.2671C>G (p.Arg891Gly)
c.9571C>G (p.Arg3191Gly)
c.9568C>G (p.Arg3190Gly)
c.9580C>G (p.Arg3194Gly)
c.9559C>G (p.Arg3187Gly)
c.9214C>G (p.Arg3072Gly)
c.5560C>G (p.Arg1854Gly)
c.9454C>G (p.Arg3152Gly)
c.9445C>G (p.Arg3149Gly)
c.9460C>G (p.Arg3154Gly)
c.3757C>G (p.Arg1253Gly)
Xg.31206648G>TCA412649580DMDc.4429C>A (p.Arg1477Ser)
c.379C>A (p.Arg127Ser)
n.381C>A
c.2203C>A (p.Arg735Ser)
n.1100C>A
n.682C>A
n.1101C>A
n.3075C>A
c.1438C>A (p.Arg480Ser)
c.9583C>A (p.Arg3195Ser)
c.5551C>A (p.Arg1851Ser)
c.256C>A (p.Arg86Ser)
c.322C>A (p.Arg108Ser)
n.513C>A
c.1396C>A (p.Arg466Ser)
c.2671C>A (p.Arg891Ser)
c.9571C>A (p.Arg3191Ser)
c.9568C>A (p.Arg3190Ser)
c.9580C>A (p.Arg3194Ser)
c.9559C>A (p.Arg3187Ser)
c.9214C>A (p.Arg3072Ser)
c.5560C>A (p.Arg1854Ser)
c.9454C>A (p.Arg3152Ser)
c.9445C>A (p.Arg3149Ser)
c.9460C>A (p.Arg3154Ser)
c.3757C>A (p.Arg1253Ser)
 ClinVar
Xg.31206649delCA515857083DMDc.4429del (p.Arg1477ValfsTer?)
c.379del (p.Arg127ValfsTer?)
n.381del
c.2203del (p.Arg735ValfsTer?)
n.1100del
n.682del
n.1101del
n.3075del
c.1438del (p.Arg480ValfsTer?)
c.9583del (p.Arg3195ValfsTer?)
c.5551del (p.Arg1851ValfsTer?)
c.256del (p.Arg86ValfsTer?)
c.322del (p.Arg108ValfsTer?)
n.513del
c.1396del (p.Arg466ValfsTer?)
c.2671del (p.Arg891ValfsTer?)
c.9571del (p.Arg3191ValfsTer?)
c.9568del (p.Arg3190ValfsTer?)
c.9580del (p.Arg3194ValfsTer?)
c.9559del (p.Arg3187ValfsTer?)
c.9214del (p.Arg3072ValfsTer?)
c.5560del (p.Arg1854ValfsTer?)
c.9454del (p.Arg3152ValfsTer?)
c.9445del (p.Arg3149ValfsTer?)
c.9460del (p.Arg3154ValfsTer?)
c.3757del (p.Arg1253ValfsTer?)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31206649G>ACA515857084DMDc.4428C>T (p.Ile1476=)
c.378C>T (p.Ile126=)
n.380C>T
c.2202C>T (p.Ile734=)
n.1099C>T
n.681C>T
n.1100C>T
n.3074C>T
c.1437C>T (p.Ile479=)
c.9582C>T (p.Ile3194=)
c.5550C>T (p.Ile1850=)
c.255C>T (p.Ile85=)
c.321C>T (p.Ile107=)
n.512C>T
c.1395C>T (p.Ile465=)
c.2670C>T (p.Ile890=)
c.9570C>T (p.Ile3190=)
c.9567C>T (p.Ile3189=)
c.9579C>T (p.Ile3193=)
c.9558C>T (p.Ile3186=)
c.9213C>T (p.Ile3071=)
c.5559C>T (p.Ile1853=)
c.9453C>T (p.Ile3151=)
c.9444C>T (p.Ile3148=)
c.9459C>T (p.Ile3153=)
c.3756C>T (p.Ile1252=)
Xg.31206649G>CCA412649582DMDc.4428C>G (p.Ile1476Met)
c.378C>G (p.Ile126Met)
n.380C>G
c.2202C>G (p.Ile734Met)
n.1099C>G
n.681C>G
n.1100C>G
n.3074C>G
c.1437C>G (p.Ile479Met)
c.9582C>G (p.Ile3194Met)
c.5550C>G (p.Ile1850Met)
c.255C>G (p.Ile85Met)
c.321C>G (p.Ile107Met)
n.512C>G
c.1395C>G (p.Ile465Met)
c.2670C>G (p.Ile890Met)
c.9570C>G (p.Ile3190Met)
c.9567C>G (p.Ile3189Met)
c.9579C>G (p.Ile3193Met)
c.9558C>G (p.Ile3186Met)
c.9213C>G (p.Ile3071Met)
c.5559C>G (p.Ile1853Met)
c.9453C>G (p.Ile3151Met)
c.9444C>G (p.Ile3148Met)
c.9459C>G (p.Ile3153Met)
c.3756C>G (p.Ile1252Met)
Xg.31206649G>TCA515857085DMDc.4428C>A (p.Ile1476=)
c.378C>A (p.Ile126=)
n.380C>A
c.2202C>A (p.Ile734=)
n.1099C>A
n.681C>A
n.1100C>A
n.3074C>A
c.1437C>A (p.Ile479=)
c.9582C>A (p.Ile3194=)
c.5550C>A (p.Ile1850=)
c.255C>A (p.Ile85=)
c.321C>A (p.Ile107=)
n.512C>A
c.1395C>A (p.Ile465=)
c.2670C>A (p.Ile890=)
c.9570C>A (p.Ile3190=)
c.9567C>A (p.Ile3189=)
c.9579C>A (p.Ile3193=)
c.9558C>A (p.Ile3186=)
c.9213C>A (p.Ile3071=)
c.5559C>A (p.Ile1853=)
c.9453C>A (p.Ile3151=)
c.9444C>A (p.Ile3148=)
c.9459C>A (p.Ile3153=)
c.3756C>A (p.Ile1252=)
Xg.31206650A>CCA412649584DMDc.4427T>G (p.Ile1476Ser)
c.377T>G (p.Ile126Ser)
n.379T>G
c.2201T>G (p.Ile734Ser)
n.1098T>G
n.680T>G
n.1099T>G
n.3073T>G
c.1436T>G (p.Ile479Ser)
c.9581T>G (p.Ile3194Ser)
c.5549T>G (p.Ile1850Ser)
c.254T>G (p.Ile85Ser)
c.320T>G (p.Ile107Ser)
n.511T>G
c.1394T>G (p.Ile465Ser)
c.2669T>G (p.Ile890Ser)
c.9569T>G (p.Ile3190Ser)
c.9566T>G (p.Ile3189Ser)
c.9578T>G (p.Ile3193Ser)
c.9557T>G (p.Ile3186Ser)
c.9212T>G (p.Ile3071Ser)
c.5558T>G (p.Ile1853Ser)
c.9452T>G (p.Ile3151Ser)
c.9443T>G (p.Ile3148Ser)
c.9458T>G (p.Ile3153Ser)
c.3755T>G (p.Ile1252Ser)
Xg.31206650A>GCA412649585DMDc.4427T>C (p.Ile1476Thr)
c.377T>C (p.Ile126Thr)
n.379T>C
c.2201T>C (p.Ile734Thr)
n.1098T>C
n.680T>C
n.1099T>C
n.3073T>C
c.1436T>C (p.Ile479Thr)
c.9581T>C (p.Ile3194Thr)
c.5549T>C (p.Ile1850Thr)
c.254T>C (p.Ile85Thr)
c.320T>C (p.Ile107Thr)
n.511T>C
c.1394T>C (p.Ile465Thr)
c.2669T>C (p.Ile890Thr)
c.9569T>C (p.Ile3190Thr)
c.9566T>C (p.Ile3189Thr)
c.9578T>C (p.Ile3193Thr)
c.9557T>C (p.Ile3186Thr)
c.9212T>C (p.Ile3071Thr)
c.5558T>C (p.Ile1853Thr)
c.9452T>C (p.Ile3151Thr)
c.9443T>C (p.Ile3148Thr)
c.9458T>C (p.Ile3153Thr)
c.3755T>C (p.Ile1252Thr)
Xg.31206650A>TCA412649586DMDc.4427T>A (p.Ile1476Asn)
c.377T>A (p.Ile126Asn)
n.379T>A
c.2201T>A (p.Ile734Asn)
n.1098T>A
n.680T>A
n.1099T>A
n.3073T>A
c.1436T>A (p.Ile479Asn)
c.9581T>A (p.Ile3194Asn)
c.5549T>A (p.Ile1850Asn)
c.254T>A (p.Ile85Asn)
c.320T>A (p.Ile107Asn)
n.511T>A
c.1394T>A (p.Ile465Asn)
c.2669T>A (p.Ile890Asn)
c.9569T>A (p.Ile3190Asn)
c.9566T>A (p.Ile3189Asn)
c.9578T>A (p.Ile3193Asn)
c.9557T>A (p.Ile3186Asn)
c.9212T>A (p.Ile3071Asn)
c.5558T>A (p.Ile1853Asn)
c.9452T>A (p.Ile3151Asn)
c.9443T>A (p.Ile3148Asn)
c.9458T>A (p.Ile3153Asn)
c.3755T>A (p.Ile1252Asn)
 gnomAD v4
Xg.31206651T>ACA412649590DMDc.4426A>T (p.Ile1476Phe)
c.376A>T (p.Ile126Phe)
n.378A>T
c.2200A>T (p.Ile734Phe)
n.1097A>T
n.679A>T
n.1098A>T
n.3072A>T
c.1435A>T (p.Ile479Phe)
c.9580A>T (p.Ile3194Phe)
c.5548A>T (p.Ile1850Phe)
c.253A>T (p.Ile85Phe)
c.319A>T (p.Ile107Phe)
n.510A>T
c.1393A>T (p.Ile465Phe)
c.2668A>T (p.Ile890Phe)
c.9568A>T (p.Ile3190Phe)
c.9565A>T (p.Ile3189Phe)
c.9577A>T (p.Ile3193Phe)
c.9556A>T (p.Ile3186Phe)
c.9211A>T (p.Ile3071Phe)
c.5557A>T (p.Ile1853Phe)
c.9451A>T (p.Ile3151Phe)
c.9442A>T (p.Ile3148Phe)
c.9457A>T (p.Ile3153Phe)
c.3754A>T (p.Ile1252Phe)
Xg.31206651T>CCA412649588DMDc.4426A>G (p.Ile1476Val)
c.376A>G (p.Ile126Val)
n.378A>G
c.2200A>G (p.Ile734Val)
n.1097A>G
n.679A>G
n.1098A>G
n.3072A>G
c.1435A>G (p.Ile479Val)
c.9580A>G (p.Ile3194Val)
c.5548A>G (p.Ile1850Val)
c.253A>G (p.Ile85Val)
c.319A>G (p.Ile107Val)
n.510A>G
c.1393A>G (p.Ile465Val)
c.2668A>G (p.Ile890Val)
c.9568A>G (p.Ile3190Val)
c.9565A>G (p.Ile3189Val)
c.9577A>G (p.Ile3193Val)
c.9556A>G (p.Ile3186Val)
c.9211A>G (p.Ile3071Val)
c.5557A>G (p.Ile1853Val)
c.9451A>G (p.Ile3151Val)
c.9442A>G (p.Ile3148Val)
c.9457A>G (p.Ile3153Val)
c.3754A>G (p.Ile1252Val)
Xg.31206651T>GCA10377775DMDc.4426A>C (p.Ile1476Leu)
c.376A>C (p.Ile126Leu)
n.378A>C
c.2200A>C (p.Ile734Leu)
n.1097A>C
n.679A>C
n.1098A>C
n.3072A>C
c.1435A>C (p.Ile479Leu)
c.9580A>C (p.Ile3194Leu)
c.5548A>C (p.Ile1850Leu)
c.253A>C (p.Ile85Leu)
c.319A>C (p.Ile107Leu)
n.510A>C
c.1393A>C (p.Ile465Leu)
c.2668A>C (p.Ile890Leu)
c.9568A>C (p.Ile3190Leu)
c.9565A>C (p.Ile3189Leu)
c.9577A>C (p.Ile3193Leu)
c.9556A>C (p.Ile3186Leu)
c.9211A>C (p.Ile3071Leu)
c.5557A>C (p.Ile1853Leu)
c.9451A>C (p.Ile3151Leu)
c.9442A>C (p.Ile3148Leu)
c.9457A>C (p.Ile3153Leu)
c.3754A>C (p.Ile1252Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31206651T=CA2422348463DMDc.4426A= (p.Ile1476=)
c.376A= (p.Ile126=)
n.378A=
c.2200A= (p.Ile734=)
n.1097A=
n.679A=
n.1098A=
n.3072A=
c.1435A= (p.Ile479=)
c.9580A= (p.Ile3194=)
c.5548A= (p.Ile1850=)
c.253A= (p.Ile85=)
c.319A= (p.Ile107=)
n.510A=
c.1393A= (p.Ile465=)
c.2668A= (p.Ile890=)
c.9568A= (p.Ile3190=)
c.9565A= (p.Ile3189=)
c.9577A= (p.Ile3193=)
c.9556A= (p.Ile3186=)
c.9211A= (p.Ile3071=)
c.5557A= (p.Ile1853=)
c.9451A= (p.Ile3151=)
c.9442A= (p.Ile3148=)
c.9457A= (p.Ile3153=)
c.3754A= (p.Ile1252=)
Xg.31206652C>ACA412649592DMDc.4425G>T (p.Arg1475Ser)
c.375G>T (p.Arg125Ser)
n.377G>T
c.2199G>T (p.Arg733Ser)
n.1096G>T
n.678G>T
n.1097G>T
n.3071G>T
c.1434G>T (p.Arg478Ser)
c.9579G>T (p.Arg3193Ser)
c.5547G>T (p.Arg1849Ser)
c.252G>T (p.Arg84Ser)
c.318G>T (p.Arg106Ser)
n.509G>T
c.1392G>T (p.Arg464Ser)
c.2667G>T (p.Arg889Ser)
c.9567G>T (p.Arg3189Ser)
c.9564G>T (p.Arg3188Ser)
c.9576G>T (p.Arg3192Ser)
c.9555G>T (p.Arg3185Ser)
c.9210G>T (p.Arg3070Ser)
c.5556G>T (p.Arg1852Ser)
c.9450G>T (p.Arg3150Ser)
c.9441G>T (p.Arg3147Ser)
c.9456G>T (p.Arg3152Ser)
c.3753G>T (p.Arg1251Ser)
Xg.31206652C>GCA412649594DMDc.4425G>C (p.Arg1475Ser)
c.375G>C (p.Arg125Ser)
n.377G>C
c.2199G>C (p.Arg733Ser)
n.1096G>C
n.678G>C
n.1097G>C
n.3071G>C
c.1434G>C (p.Arg478Ser)
c.9579G>C (p.Arg3193Ser)
c.5547G>C (p.Arg1849Ser)
c.252G>C (p.Arg84Ser)
c.318G>C (p.Arg106Ser)
n.509G>C
c.1392G>C (p.Arg464Ser)
c.2667G>C (p.Arg889Ser)
c.9567G>C (p.Arg3189Ser)
c.9564G>C (p.Arg3188Ser)
c.9576G>C (p.Arg3192Ser)
c.9555G>C (p.Arg3185Ser)
c.9210G>C (p.Arg3070Ser)
c.5556G>C (p.Arg1852Ser)
c.9450G>C (p.Arg3150Ser)
c.9441G>C (p.Arg3147Ser)
c.9456G>C (p.Arg3152Ser)
c.3753G>C (p.Arg1251Ser)
Xg.31206652C>TCA515857086DMDc.4425G>A (p.Arg1475=)
c.375G>A (p.Arg125=)
n.377G>A
c.2199G>A (p.Arg733=)
n.1096G>A
n.678G>A
n.1097G>A
n.3071G>A
c.1434G>A (p.Arg478=)
c.9579G>A (p.Arg3193=)
c.5547G>A (p.Arg1849=)
c.252G>A (p.Arg84=)
c.318G>A (p.Arg106=)
n.509G>A
c.1392G>A (p.Arg464=)
c.2667G>A (p.Arg889=)
c.9567G>A (p.Arg3189=)
c.9564G>A (p.Arg3188=)
c.9576G>A (p.Arg3192=)
c.9555G>A (p.Arg3185=)
c.9210G>A (p.Arg3070=)
c.5556G>A (p.Arg1852=)
c.9450G>A (p.Arg3150=)
c.9441G>A (p.Arg3147=)
c.9456G>A (p.Arg3152=)
c.3753G>A (p.Arg1251=)
Xg.31206653C>ACA412649595DMDc.4424G>T (p.Arg1475Met)
c.374G>T (p.Arg125Met)
n.376G>T
c.2198G>T (p.Arg733Met)
n.1095G>T
n.677G>T
n.1096G>T
n.3070G>T
c.1433G>T (p.Arg478Met)
c.9578G>T (p.Arg3193Met)
c.5546G>T (p.Arg1849Met)
c.251G>T (p.Arg84Met)
c.317G>T (p.Arg106Met)
n.508G>T
c.1391G>T (p.Arg464Met)
c.2666G>T (p.Arg889Met)
c.9566G>T (p.Arg3189Met)
c.9563G>T (p.Arg3188Met)
c.9575G>T (p.Arg3192Met)
c.9554G>T (p.Arg3185Met)
c.9209G>T (p.Arg3070Met)
c.5555G>T (p.Arg1852Met)
c.9449G>T (p.Arg3150Met)
c.9440G>T (p.Arg3147Met)
c.9455G>T (p.Arg3152Met)
c.3752G>T (p.Arg1251Met)
Xg.31206653C>GCA412649598DMDc.4424G>C (p.Arg1475Thr)
c.374G>C (p.Arg125Thr)
n.376G>C
c.2198G>C (p.Arg733Thr)
n.1095G>C
n.677G>C
n.1096G>C
n.3070G>C
c.1433G>C (p.Arg478Thr)
c.9578G>C (p.Arg3193Thr)
c.5546G>C (p.Arg1849Thr)
c.251G>C (p.Arg84Thr)
c.317G>C (p.Arg106Thr)
n.508G>C
c.1391G>C (p.Arg464Thr)
c.2666G>C (p.Arg889Thr)
c.9566G>C (p.Arg3189Thr)
c.9563G>C (p.Arg3188Thr)
c.9575G>C (p.Arg3192Thr)
c.9554G>C (p.Arg3185Thr)
c.9209G>C (p.Arg3070Thr)
c.5555G>C (p.Arg1852Thr)
c.9449G>C (p.Arg3150Thr)
c.9440G>C (p.Arg3147Thr)
c.9455G>C (p.Arg3152Thr)
c.3752G>C (p.Arg1251Thr)
Xg.31206653C>TCA412649596DMDc.4424G>A (p.Arg1475Lys)
c.374G>A (p.Arg125Lys)
n.376G>A
c.2198G>A (p.Arg733Lys)
n.1095G>A
n.677G>A
n.1096G>A
n.3070G>A
c.1433G>A (p.Arg478Lys)
c.9578G>A (p.Arg3193Lys)
c.5546G>A (p.Arg1849Lys)
c.251G>A (p.Arg84Lys)
c.317G>A (p.Arg106Lys)
n.508G>A
c.1391G>A (p.Arg464Lys)
c.2666G>A (p.Arg889Lys)
c.9566G>A (p.Arg3189Lys)
c.9563G>A (p.Arg3188Lys)
c.9575G>A (p.Arg3192Lys)
c.9554G>A (p.Arg3185Lys)
c.9209G>A (p.Arg3070Lys)
c.5555G>A (p.Arg1852Lys)
c.9449G>A (p.Arg3150Lys)
c.9440G>A (p.Arg3147Lys)
c.9455G>A (p.Arg3152Lys)
c.3752G>A (p.Arg1251Lys)
Xg.31206654delCA2528492145DMDc.4423del (p.Arg1475GlyfsTer?)
c.373del (p.Arg125GlyfsTer?)
n.375del
c.2197del (p.Arg733GlyfsTer?)
n.1094del
n.676del
n.1095del
n.3069del
c.1432del (p.Arg478GlyfsTer?)
c.9577del (p.Arg3193GlyfsTer?)
c.5545del (p.Arg1849GlyfsTer?)
c.250del (p.Arg84GlyfsTer?)
c.316del (p.Arg106GlyfsTer?)
n.507del
c.1390del (p.Arg464GlyfsTer?)
c.2665del (p.Arg889GlyfsTer?)
c.9565del (p.Arg3189GlyfsTer?)
c.9562del (p.Arg3188GlyfsTer?)
c.9574del (p.Arg3192GlyfsTer?)
c.9553del (p.Arg3185GlyfsTer?)
c.9208del (p.Arg3070GlyfsTer?)
c.5554del (p.Arg1852GlyfsTer?)
c.9448del (p.Arg3150GlyfsTer?)
c.9439del (p.Arg3147GlyfsTer?)
c.9454del (p.Arg3152GlyfsTer?)
c.3751del (p.Arg1251GlyfsTer?)
Xg.31206654T>ACA412649600DMDc.4423A>T (p.Arg1475Trp)
c.373A>T (p.Arg125Trp)
n.375A>T
c.2197A>T (p.Arg733Trp)
n.1094A>T
n.676A>T
n.1095A>T
n.3069A>T
c.1432A>T (p.Arg478Trp)
c.9577A>T (p.Arg3193Trp)
c.5545A>T (p.Arg1849Trp)
c.250A>T (p.Arg84Trp)
c.316A>T (p.Arg106Trp)
n.507A>T
c.1390A>T (p.Arg464Trp)
c.2665A>T (p.Arg889Trp)
c.9565A>T (p.Arg3189Trp)
c.9562A>T (p.Arg3188Trp)
c.9574A>T (p.Arg3192Trp)
c.9553A>T (p.Arg3185Trp)
c.9208A>T (p.Arg3070Trp)
c.5554A>T (p.Arg1852Trp)
c.9448A>T (p.Arg3150Trp)
c.9439A>T (p.Arg3147Trp)
c.9454A>T (p.Arg3152Trp)
c.3751A>T (p.Arg1251Trp)
Xg.31206654T>CCA412649601DMDc.4423A>G (p.Arg1475Gly)
c.373A>G (p.Arg125Gly)
n.375A>G
c.2197A>G (p.Arg733Gly)
n.1094A>G
n.676A>G
n.1095A>G
n.3069A>G
c.1432A>G (p.Arg478Gly)
c.9577A>G (p.Arg3193Gly)
c.5545A>G (p.Arg1849Gly)
c.250A>G (p.Arg84Gly)
c.316A>G (p.Arg106Gly)
n.507A>G
c.1390A>G (p.Arg464Gly)
c.2665A>G (p.Arg889Gly)
c.9565A>G (p.Arg3189Gly)
c.9562A>G (p.Arg3188Gly)
c.9574A>G (p.Arg3192Gly)
c.9553A>G (p.Arg3185Gly)
c.9208A>G (p.Arg3070Gly)
c.5554A>G (p.Arg1852Gly)
c.9448A>G (p.Arg3150Gly)
c.9439A>G (p.Arg3147Gly)
c.9454A>G (p.Arg3152Gly)
c.3751A>G (p.Arg1251Gly)
Xg.31206654T>GCA515857087DMDc.4423A>C (p.Arg1475=)
c.373A>C (p.Arg125=)
n.375A>C
c.2197A>C (p.Arg733=)
n.1094A>C
n.676A>C
n.1095A>C
n.3069A>C
c.1432A>C (p.Arg478=)
c.9577A>C (p.Arg3193=)
c.5545A>C (p.Arg1849=)
c.250A>C (p.Arg84=)
c.316A>C (p.Arg106=)
n.507A>C
c.1390A>C (p.Arg464=)
c.2665A>C (p.Arg889=)
c.9565A>C (p.Arg3189=)
c.9562A>C (p.Arg3188=)
c.9574A>C (p.Arg3192=)
c.9553A>C (p.Arg3185=)
c.9208A>C (p.Arg3070=)
c.5554A>C (p.Arg1852=)
c.9448A>C (p.Arg3150=)
c.9439A>C (p.Arg3147=)
c.9454A>C (p.Arg3152=)
c.3751A>C (p.Arg1251=)
 ClinVar dbSNP
Xg.31206654T=CA2422348464DMDc.4423A= (p.Arg1475=)
c.373A= (p.Arg125=)
n.375A=
c.2197A= (p.Arg733=)
n.1094A=
n.676A=
n.1095A=
n.3069A=
c.1432A= (p.Arg478=)
c.9577A= (p.Arg3193=)
c.5545A= (p.Arg1849=)
c.250A= (p.Arg84=)
c.316A= (p.Arg106=)
n.507A=
c.1390A= (p.Arg464=)
c.2665A= (p.Arg889=)
c.9565A= (p.Arg3189=)
c.9562A= (p.Arg3188=)
c.9574A= (p.Arg3192=)
c.9553A= (p.Arg3185=)
c.9208A= (p.Arg3070=)
c.5554A= (p.Arg1852=)
c.9448A= (p.Arg3150=)
c.9439A= (p.Arg3147=)
c.9454A= (p.Arg3152=)
c.3751A= (p.Arg1251=)
Xg.31206655C>ACA515857088DMDc.4422G>T (p.Gly1474=)
c.372G>T (p.Gly124=)
n.374G>T
c.2196G>T (p.Gly732=)
n.1093G>T
n.675G>T
n.1094G>T
n.3068G>T
c.1431G>T (p.Gly477=)
c.9576G>T (p.Gly3192=)
c.5544G>T (p.Gly1848=)
c.249G>T (p.Gly83=)
c.315G>T (p.Gly105=)
n.506G>T
c.1389G>T (p.Gly463=)
c.2664G>T (p.Gly888=)
c.9564G>T (p.Gly3188=)
c.9561G>T (p.Gly3187=)
c.9573G>T (p.Gly3191=)
c.9552G>T (p.Gly3184=)
c.9207G>T (p.Gly3069=)
c.5553G>T (p.Gly1851=)
c.9447G>T (p.Gly3149=)
c.9438G>T (p.Gly3146=)
c.9453G>T (p.Gly3151=)
c.3750G>T (p.Gly1250=)
Xg.31206655C>GCA515857089DMDc.4422G>C (p.Gly1474=)
c.372G>C (p.Gly124=)
n.374G>C
c.2196G>C (p.Gly732=)
n.1093G>C
n.675G>C
n.1094G>C
n.3068G>C
c.1431G>C (p.Gly477=)
c.9576G>C (p.Gly3192=)
c.5544G>C (p.Gly1848=)
c.249G>C (p.Gly83=)
c.315G>C (p.Gly105=)
n.506G>C
c.1389G>C (p.Gly463=)
c.2664G>C (p.Gly888=)
c.9564G>C (p.Gly3188=)
c.9561G>C (p.Gly3187=)
c.9573G>C (p.Gly3191=)
c.9552G>C (p.Gly3184=)
c.9207G>C (p.Gly3069=)
c.5553G>C (p.Gly1851=)
c.9447G>C (p.Gly3149=)
c.9438G>C (p.Gly3146=)
c.9453G>C (p.Gly3151=)
c.3750G>C (p.Gly1250=)
Xg.31206655C>TCA515857090DMDc.4422G>A (p.Gly1474=)
c.372G>A (p.Gly124=)
n.374G>A
c.2196G>A (p.Gly732=)
n.1093G>A
n.675G>A
n.1094G>A
n.3068G>A
c.1431G>A (p.Gly477=)
c.9576G>A (p.Gly3192=)
c.5544G>A (p.Gly1848=)
c.249G>A (p.Gly83=)
c.315G>A (p.Gly105=)
n.506G>A
c.1389G>A (p.Gly463=)
c.2664G>A (p.Gly888=)
c.9564G>A (p.Gly3188=)
c.9561G>A (p.Gly3187=)
c.9573G>A (p.Gly3191=)
c.9552G>A (p.Gly3184=)
c.9207G>A (p.Gly3069=)
c.5553G>A (p.Gly1851=)
c.9447G>A (p.Gly3149=)
c.9438G>A (p.Gly3146=)
c.9453G>A (p.Gly3151=)
c.3750G>A (p.Gly1250=)
Xg.31206656C>ACA412649603DMDc.4421G>T (p.Gly1474Val)
c.371G>T (p.Gly124Val)
n.373G>T
c.2195G>T (p.Gly732Val)
n.1092G>T
n.674G>T
n.1093G>T
n.3067G>T
c.1430G>T (p.Gly477Val)
c.9575G>T (p.Gly3192Val)
c.5543G>T (p.Gly1848Val)
c.248G>T (p.Gly83Val)
c.314G>T (p.Gly105Val)
n.505G>T
c.1388G>T (p.Gly463Val)
c.2663G>T (p.Gly888Val)
c.9563G>T (p.Gly3188Val)
c.9560G>T (p.Gly3187Val)
c.9572G>T (p.Gly3191Val)
c.9551G>T (p.Gly3184Val)
c.9206G>T (p.Gly3069Val)
c.5552G>T (p.Gly1851Val)
c.9446G>T (p.Gly3149Val)
c.9437G>T (p.Gly3146Val)
c.9452G>T (p.Gly3151Val)
c.3749G>T (p.Gly1250Val)
Xg.31206656C>GCA412649604DMDc.4421G>C (p.Gly1474Ala)
c.371G>C (p.Gly124Ala)
n.373G>C
c.2195G>C (p.Gly732Ala)
n.1092G>C
n.674G>C
n.1093G>C
n.3067G>C
c.1430G>C (p.Gly477Ala)
c.9575G>C (p.Gly3192Ala)
c.5543G>C (p.Gly1848Ala)
c.248G>C (p.Gly83Ala)
c.314G>C (p.Gly105Ala)
n.505G>C
c.1388G>C (p.Gly463Ala)
c.2663G>C (p.Gly888Ala)
c.9563G>C (p.Gly3188Ala)
c.9560G>C (p.Gly3187Ala)
c.9572G>C (p.Gly3191Ala)
c.9551G>C (p.Gly3184Ala)
c.9206G>C (p.Gly3069Ala)
c.5552G>C (p.Gly1851Ala)
c.9446G>C (p.Gly3149Ala)
c.9437G>C (p.Gly3146Ala)
c.9452G>C (p.Gly3151Ala)
c.3749G>C (p.Gly1250Ala)
Xg.31206656C>TCA412649605DMDc.4421G>A (p.Gly1474Glu)
c.371G>A (p.Gly124Glu)
n.373G>A
c.2195G>A (p.Gly732Glu)
n.1092G>A
n.674G>A
n.1093G>A
n.3067G>A
c.1430G>A (p.Gly477Glu)
c.9575G>A (p.Gly3192Glu)
c.5543G>A (p.Gly1848Glu)
c.248G>A (p.Gly83Glu)
c.314G>A (p.Gly105Glu)
n.505G>A
c.1388G>A (p.Gly463Glu)
c.2663G>A (p.Gly888Glu)
c.9563G>A (p.Gly3188Glu)
c.9560G>A (p.Gly3187Glu)
c.9572G>A (p.Gly3191Glu)
c.9551G>A (p.Gly3184Glu)
c.9206G>A (p.Gly3069Glu)
c.5552G>A (p.Gly1851Glu)
c.9446G>A (p.Gly3149Glu)
c.9437G>A (p.Gly3146Glu)
c.9452G>A (p.Gly3151Glu)
c.3749G>A (p.Gly1250Glu)
Xg.31206657C>ACA412649607DMDc.4420G>T (p.Gly1474Trp)
c.370G>T (p.Gly124Trp)
n.372G>T
c.2194G>T (p.Gly732Trp)
n.1091G>T
n.673G>T
n.1092G>T
n.3066G>T
c.1429G>T (p.Gly477Trp)
c.9574G>T (p.Gly3192Trp)
c.5542G>T (p.Gly1848Trp)
c.247G>T (p.Gly83Trp)
c.313G>T (p.Gly105Trp)
n.504G>T
c.1387G>T (p.Gly463Trp)
c.2662G>T (p.Gly888Trp)
c.9562G>T (p.Gly3188Trp)
c.9559G>T (p.Gly3187Trp)
c.9571G>T (p.Gly3191Trp)
c.9550G>T (p.Gly3184Trp)
c.9205G>T (p.Gly3069Trp)
c.5551G>T (p.Gly1851Trp)
c.9445G>T (p.Gly3149Trp)
c.9436G>T (p.Gly3146Trp)
c.9451G>T (p.Gly3151Trp)
c.3748G>T (p.Gly1250Trp)
 COSMIC COSMIC COSMIC COSMIC
Xg.31206657C=CA2422348465DMDc.4420G= (p.Gly1474=)
c.370G= (p.Gly124=)
n.372G=
c.2194G= (p.Gly732=)
n.1091G=
n.673G=
n.1092G=
n.3066G=
c.1429G= (p.Gly477=)
c.9574G= (p.Gly3192=)
c.5542G= (p.Gly1848=)
c.247G= (p.Gly83=)
c.313G= (p.Gly105=)
n.504G=
c.1387G= (p.Gly463=)
c.2662G= (p.Gly888=)
c.9562G= (p.Gly3188=)
c.9559G= (p.Gly3187=)
c.9571G= (p.Gly3191=)
c.9550G= (p.Gly3184=)
c.9205G= (p.Gly3069=)
c.5551G= (p.Gly1851=)
c.9445G= (p.Gly3149=)
c.9436G= (p.Gly3146=)
c.9451G= (p.Gly3151=)
c.3748G= (p.Gly1250=)
Xg.31206657C>GCA10377776DMDc.4420G>C (p.Gly1474Arg)
c.370G>C (p.Gly124Arg)
n.372G>C
c.2194G>C (p.Gly732Arg)
n.1091G>C
n.673G>C
n.1092G>C
n.3066G>C
c.1429G>C (p.Gly477Arg)
c.9574G>C (p.Gly3192Arg)
c.5542G>C (p.Gly1848Arg)
c.247G>C (p.Gly83Arg)
c.313G>C (p.Gly105Arg)
n.504G>C
c.1387G>C (p.Gly463Arg)
c.2662G>C (p.Gly888Arg)
c.9562G>C (p.Gly3188Arg)
c.9559G>C (p.Gly3187Arg)
c.9571G>C (p.Gly3191Arg)
c.9550G>C (p.Gly3184Arg)
c.9205G>C (p.Gly3069Arg)
c.5551G>C (p.Gly1851Arg)
c.9445G>C (p.Gly3149Arg)
c.9436G>C (p.Gly3146Arg)
c.9451G>C (p.Gly3151Arg)
c.3748G>C (p.Gly1250Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31206657C>TCA412649610DMDc.4420G>A (p.Gly1474Arg)
c.370G>A (p.Gly124Arg)
n.372G>A
c.2194G>A (p.Gly732Arg)
n.1091G>A
n.673G>A
n.1092G>A
n.3066G>A
c.1429G>A (p.Gly477Arg)
c.9574G>A (p.Gly3192Arg)
c.5542G>A (p.Gly1848Arg)
c.247G>A (p.Gly83Arg)
c.313G>A (p.Gly105Arg)
n.504G>A
c.1387G>A (p.Gly463Arg)
c.2662G>A (p.Gly888Arg)
c.9562G>A (p.Gly3188Arg)
c.9559G>A (p.Gly3187Arg)
c.9571G>A (p.Gly3191Arg)
c.9550G>A (p.Gly3184Arg)
c.9205G>A (p.Gly3069Arg)
c.5551G>A (p.Gly1851Arg)
c.9445G>A (p.Gly3149Arg)
c.9436G>A (p.Gly3146Arg)
c.9451G>A (p.Gly3151Arg)
c.3748G>A (p.Gly1250Arg)
Xg.31206658T>ACA515857091DMDc.4419A>T (p.Thr1473=)
c.369A>T (p.Thr123=)
n.371A>T
c.2193A>T (p.Thr731=)
n.1090A>T
n.672A>T
n.1091A>T
n.3065A>T
c.1428A>T (p.Thr476=)
c.9573A>T (p.Thr3191=)
c.5541A>T (p.Thr1847=)
c.246A>T (p.Thr82=)
c.312A>T (p.Thr104=)
n.503A>T
c.1386A>T (p.Thr462=)
c.2661A>T (p.Thr887=)
c.9561A>T (p.Thr3187=)
c.9558A>T (p.Thr3186=)
c.9570A>T (p.Thr3190=)
c.9549A>T (p.Thr3183=)
c.9204A>T (p.Thr3068=)
c.5550A>T (p.Thr1850=)
c.9444A>T (p.Thr3148=)
c.9435A>T (p.Thr3145=)
c.9450A>T (p.Thr3150=)
c.3747A>T (p.Thr1249=)
Xg.31206658T>CCA515857093DMDc.4419A>G (p.Thr1473=)
c.369A>G (p.Thr123=)
n.371A>G
c.2193A>G (p.Thr731=)
n.1090A>G
n.672A>G
n.1091A>G
n.3065A>G
c.1428A>G (p.Thr476=)
c.9573A>G (p.Thr3191=)
c.5541A>G (p.Thr1847=)
c.246A>G (p.Thr82=)
c.312A>G (p.Thr104=)
n.503A>G
c.1386A>G (p.Thr462=)
c.2661A>G (p.Thr887=)
c.9561A>G (p.Thr3187=)
c.9558A>G (p.Thr3186=)
c.9570A>G (p.Thr3190=)
c.9549A>G (p.Thr3183=)
c.9204A>G (p.Thr3068=)
c.5550A>G (p.Thr1850=)
c.9444A>G (p.Thr3148=)
c.9435A>G (p.Thr3145=)
c.9450A>G (p.Thr3150=)
c.3747A>G (p.Thr1249=)
Xg.31206658T>GCA515857092DMDc.4419A>C (p.Thr1473=)
c.369A>C (p.Thr123=)
n.371A>C
c.2193A>C (p.Thr731=)
n.1090A>C
n.672A>C
n.1091A>C
n.3065A>C
c.1428A>C (p.Thr476=)
c.9573A>C (p.Thr3191=)
c.5541A>C (p.Thr1847=)
c.246A>C (p.Thr82=)
c.312A>C (p.Thr104=)
n.503A>C
c.1386A>C (p.Thr462=)
c.2661A>C (p.Thr887=)
c.9561A>C (p.Thr3187=)
c.9558A>C (p.Thr3186=)
c.9570A>C (p.Thr3190=)
c.9549A>C (p.Thr3183=)
c.9204A>C (p.Thr3068=)
c.5550A>C (p.Thr1850=)
c.9444A>C (p.Thr3148=)
c.9435A>C (p.Thr3145=)
c.9450A>C (p.Thr3150=)
c.3747A>C (p.Thr1249=)
Xg.31206659G>ACA412649612DMDc.4418C>T (p.Thr1473Ile)
c.368C>T (p.Thr123Ile)
n.370C>T
c.2192C>T (p.Thr731Ile)
n.1089C>T
n.671C>T
n.1090C>T
n.3064C>T
c.1427C>T (p.Thr476Ile)
c.9572C>T (p.Thr3191Ile)
c.5540C>T (p.Thr1847Ile)
c.245C>T (p.Thr82Ile)
c.311C>T (p.Thr104Ile)
n.502C>T
c.1385C>T (p.Thr462Ile)
c.2660C>T (p.Thr887Ile)
c.9560C>T (p.Thr3187Ile)
c.9557C>T (p.Thr3186Ile)
c.9569C>T (p.Thr3190Ile)
c.9548C>T (p.Thr3183Ile)
c.9203C>T (p.Thr3068Ile)
c.5549C>T (p.Thr1850Ile)
c.9443C>T (p.Thr3148Ile)
c.9434C>T (p.Thr3145Ile)
c.9449C>T (p.Thr3150Ile)
c.3746C>T (p.Thr1249Ile)
 ClinVar
Xg.31206659G>CCA412649614DMDc.4418C>G (p.Thr1473Arg)
c.368C>G (p.Thr123Arg)
n.370C>G
c.2192C>G (p.Thr731Arg)
n.1089C>G
n.671C>G
n.1090C>G
n.3064C>G
c.1427C>G (p.Thr476Arg)
c.9572C>G (p.Thr3191Arg)
c.5540C>G (p.Thr1847Arg)
c.245C>G (p.Thr82Arg)
c.311C>G (p.Thr104Arg)
n.502C>G
c.1385C>G (p.Thr462Arg)
c.2660C>G (p.Thr887Arg)
c.9560C>G (p.Thr3187Arg)
c.9557C>G (p.Thr3186Arg)
c.9569C>G (p.Thr3190Arg)
c.9548C>G (p.Thr3183Arg)
c.9203C>G (p.Thr3068Arg)
c.5549C>G (p.Thr1850Arg)
c.9443C>G (p.Thr3148Arg)
c.9434C>G (p.Thr3145Arg)
c.9449C>G (p.Thr3150Arg)
c.3746C>G (p.Thr1249Arg)
Xg.31206659G>TCA412649615DMDc.4418C>A (p.Thr1473Lys)
c.368C>A (p.Thr123Lys)
n.370C>A
c.2192C>A (p.Thr731Lys)
n.1089C>A
n.671C>A
n.1090C>A
n.3064C>A
c.1427C>A (p.Thr476Lys)
c.9572C>A (p.Thr3191Lys)
c.5540C>A (p.Thr1847Lys)
c.245C>A (p.Thr82Lys)
c.311C>A (p.Thr104Lys)
n.502C>A
c.1385C>A (p.Thr462Lys)
c.2660C>A (p.Thr887Lys)
c.9560C>A (p.Thr3187Lys)
c.9557C>A (p.Thr3186Lys)
c.9569C>A (p.Thr3190Lys)
c.9548C>A (p.Thr3183Lys)
c.9203C>A (p.Thr3068Lys)
c.5549C>A (p.Thr1850Lys)
c.9443C>A (p.Thr3148Lys)
c.9434C>A (p.Thr3145Lys)
c.9449C>A (p.Thr3150Lys)
c.3746C>A (p.Thr1249Lys)
Xg.31206660T>ACA412649621DMDc.4417A>T (p.Thr1473Ser)
c.367A>T (p.Thr123Ser)
n.369A>T
c.2191A>T (p.Thr731Ser)
n.1088A>T
n.670A>T
n.1089A>T
n.3063A>T
c.1426A>T (p.Thr476Ser)
c.9571A>T (p.Thr3191Ser)
c.5539A>T (p.Thr1847Ser)
c.244A>T (p.Thr82Ser)
c.310A>T (p.Thr104Ser)
n.501A>T
c.1384A>T (p.Thr462Ser)
c.2659A>T (p.Thr887Ser)
c.9559A>T (p.Thr3187Ser)
c.9556A>T (p.Thr3186Ser)
c.9568A>T (p.Thr3190Ser)
c.9547A>T (p.Thr3183Ser)
c.9202A>T (p.Thr3068Ser)
c.5548A>T (p.Thr1850Ser)
c.9442A>T (p.Thr3148Ser)
c.9433A>T (p.Thr3145Ser)
c.9448A>T (p.Thr3150Ser)
c.3745A>T (p.Thr1249Ser)
Xg.31206660T>CCA412649617DMDc.4417A>G (p.Thr1473Ala)
c.367A>G (p.Thr123Ala)
n.369A>G
c.2191A>G (p.Thr731Ala)
n.1088A>G
n.670A>G
n.1089A>G
n.3063A>G
c.1426A>G (p.Thr476Ala)
c.9571A>G (p.Thr3191Ala)
c.5539A>G (p.Thr1847Ala)
c.244A>G (p.Thr82Ala)
c.310A>G (p.Thr104Ala)
n.501A>G
c.1384A>G (p.Thr462Ala)
c.2659A>G (p.Thr887Ala)
c.9559A>G (p.Thr3187Ala)
c.9556A>G (p.Thr3186Ala)
c.9568A>G (p.Thr3190Ala)
c.9547A>G (p.Thr3183Ala)
c.9202A>G (p.Thr3068Ala)
c.5548A>G (p.Thr1850Ala)
c.9442A>G (p.Thr3148Ala)
c.9433A>G (p.Thr3145Ala)
c.9448A>G (p.Thr3150Ala)
c.3745A>G (p.Thr1249Ala)
Xg.31206660T>GCA412649619DMDc.4417A>C (p.Thr1473Pro)
c.367A>C (p.Thr123Pro)
n.369A>C
c.2191A>C (p.Thr731Pro)
n.1088A>C
n.670A>C
n.1089A>C
n.3063A>C
c.1426A>C (p.Thr476Pro)
c.9571A>C (p.Thr3191Pro)
c.5539A>C (p.Thr1847Pro)
c.244A>C (p.Thr82Pro)
c.310A>C (p.Thr104Pro)
n.501A>C
c.1384A>C (p.Thr462Pro)
c.2659A>C (p.Thr887Pro)
c.9559A>C (p.Thr3187Pro)
c.9556A>C (p.Thr3186Pro)
c.9568A>C (p.Thr3190Pro)
c.9547A>C (p.Thr3183Pro)
c.9202A>C (p.Thr3068Pro)
c.5548A>C (p.Thr1850Pro)
c.9442A>C (p.Thr3148Pro)
c.9433A>C (p.Thr3145Pro)
c.9448A>C (p.Thr3150Pro)
c.3745A>C (p.Thr1249Pro)
Xg.31206661T>ACA515857094DMDc.4416A>T (p.Arg1472=)
c.366A>T (p.Arg122=)
n.368A>T
c.2190A>T (p.Arg730=)
n.1087A>T
n.669A>T
n.1088A>T
n.3062A>T
c.1425A>T (p.Arg475=)
c.9570A>T (p.Arg3190=)
c.5538A>T (p.Arg1846=)
c.243A>T (p.Arg81=)
c.309A>T (p.Arg103=)
n.500A>T
c.1383A>T (p.Arg461=)
c.2658A>T (p.Arg886=)
c.9558A>T (p.Arg3186=)
c.9555A>T (p.Arg3185=)
c.9567A>T (p.Arg3189=)
c.9546A>T (p.Arg3182=)
c.9201A>T (p.Arg3067=)
c.5547A>T (p.Arg1849=)
c.9441A>T (p.Arg3147=)
c.9432A>T (p.Arg3144=)
c.9447A>T (p.Arg3149=)
c.3744A>T (p.Arg1248=)
Xg.31206661T>CCA515857095DMDc.4416A>G (p.Arg1472=)
c.366A>G (p.Arg122=)
n.368A>G
c.2190A>G (p.Arg730=)
n.1087A>G
n.669A>G
n.1088A>G
n.3062A>G
c.1425A>G (p.Arg475=)
c.9570A>G (p.Arg3190=)
c.5538A>G (p.Arg1846=)
c.243A>G (p.Arg81=)
c.309A>G (p.Arg103=)
n.500A>G
c.1383A>G (p.Arg461=)
c.2658A>G (p.Arg886=)
c.9558A>G (p.Arg3186=)
c.9555A>G (p.Arg3185=)
c.9567A>G (p.Arg3189=)
c.9546A>G (p.Arg3182=)
c.9201A>G (p.Arg3067=)
c.5547A>G (p.Arg1849=)
c.9441A>G (p.Arg3147=)
c.9432A>G (p.Arg3144=)
c.9447A>G (p.Arg3149=)
c.3744A>G (p.Arg1248=)
Xg.31206661T>GCA515857096DMDc.4416A>C (p.Arg1472=)
c.366A>C (p.Arg122=)
n.368A>C
c.2190A>C (p.Arg730=)
n.1087A>C
n.669A>C
n.1088A>C
n.3062A>C
c.1425A>C (p.Arg475=)
c.9570A>C (p.Arg3190=)
c.5538A>C (p.Arg1846=)
c.243A>C (p.Arg81=)
c.309A>C (p.Arg103=)
n.500A>C
c.1383A>C (p.Arg461=)
c.2658A>C (p.Arg886=)
c.9558A>C (p.Arg3186=)
c.9555A>C (p.Arg3185=)
c.9567A>C (p.Arg3189=)
c.9546A>C (p.Arg3182=)
c.9201A>C (p.Arg3067=)
c.5547A>C (p.Arg1849=)
c.9441A>C (p.Arg3147=)
c.9432A>C (p.Arg3144=)
c.9447A>C (p.Arg3149=)
c.3744A>C (p.Arg1248=)
Xg.31206662C>ACA412649622DMDc.4415G>T (p.Arg1472Leu)
c.365G>T (p.Arg122Leu)
n.367G>T
c.2189G>T (p.Arg730Leu)
n.1086G>T
n.668G>T
n.1087G>T
n.3061G>T
c.1424G>T (p.Arg475Leu)
c.9569G>T (p.Arg3190Leu)
c.5537G>T (p.Arg1846Leu)
c.242G>T (p.Arg81Leu)
c.308G>T (p.Arg103Leu)
n.499G>T
c.1382G>T (p.Arg461Leu)
c.2657G>T (p.Arg886Leu)
c.9557G>T (p.Arg3186Leu)
c.9554G>T (p.Arg3185Leu)
c.9566G>T (p.Arg3189Leu)
c.9545G>T (p.Arg3182Leu)
c.9200G>T (p.Arg3067Leu)
c.5546G>T (p.Arg1849Leu)
c.9440G>T (p.Arg3147Leu)
c.9431G>T (p.Arg3144Leu)
c.9446G>T (p.Arg3149Leu)
c.3743G>T (p.Arg1248Leu)
Xg.31206662C=CA2422348466DMDc.4415G= (p.Arg1472=)
c.365G= (p.Arg122=)
n.367G=
c.2189G= (p.Arg730=)
n.1086G=
n.668G=
n.1087G=
n.3061G=
c.1424G= (p.Arg475=)
c.9569G= (p.Arg3190=)
c.5537G= (p.Arg1846=)
c.242G= (p.Arg81=)
c.308G= (p.Arg103=)
n.499G=
c.1382G= (p.Arg461=)
c.2657G= (p.Arg886=)
c.9557G= (p.Arg3186=)
c.9554G= (p.Arg3185=)
c.9566G= (p.Arg3189=)
c.9545G= (p.Arg3182=)
c.9200G= (p.Arg3067=)
c.5546G= (p.Arg1849=)
c.9440G= (p.Arg3147=)
c.9431G= (p.Arg3144=)
c.9446G= (p.Arg3149=)
c.3743G= (p.Arg1248=)
Xg.31206662C>GCA412649624DMDc.4415G>C (p.Arg1472Pro)
c.365G>C (p.Arg122Pro)
n.367G>C
c.2189G>C (p.Arg730Pro)
n.1086G>C
n.668G>C
n.1087G>C
n.3061G>C
c.1424G>C (p.Arg475Pro)
c.9569G>C (p.Arg3190Pro)
c.5537G>C (p.Arg1846Pro)
c.242G>C (p.Arg81Pro)
c.308G>C (p.Arg103Pro)
n.499G>C
c.1382G>C (p.Arg461Pro)
c.2657G>C (p.Arg886Pro)
c.9557G>C (p.Arg3186Pro)
c.9554G>C (p.Arg3185Pro)
c.9566G>C (p.Arg3189Pro)
c.9545G>C (p.Arg3182Pro)
c.9200G>C (p.Arg3067Pro)
c.5546G>C (p.Arg1849Pro)
c.9440G>C (p.Arg3147Pro)
c.9431G>C (p.Arg3144Pro)
c.9446G>C (p.Arg3149Pro)
c.3743G>C (p.Arg1248Pro)
Xg.31206662C>TCA10604334DMDc.4415G>A (p.Arg1472Gln)
c.365G>A (p.Arg122Gln)
n.367G>A
c.2189G>A (p.Arg730Gln)
n.1086G>A
n.668G>A
n.1087G>A
n.3061G>A
c.1424G>A (p.Arg475Gln)
c.9569G>A (p.Arg3190Gln)
c.5537G>A (p.Arg1846Gln)
c.242G>A (p.Arg81Gln)
c.308G>A (p.Arg103Gln)
n.499G>A
c.1382G>A (p.Arg461Gln)
c.2657G>A (p.Arg886Gln)
c.9557G>A (p.Arg3186Gln)
c.9554G>A (p.Arg3185Gln)
c.9566G>A (p.Arg3189Gln)
c.9545G>A (p.Arg3182Gln)
c.9200G>A (p.Arg3067Gln)
c.5546G>A (p.Arg1849Gln)
c.9440G>A (p.Arg3147Gln)
c.9431G>A (p.Arg3144Gln)
c.9446G>A (p.Arg3149Gln)
c.3743G>A (p.Arg1248Gln)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31206663G>ACA273076DMDc.4414C>T (p.Arg1472Ter)
c.364C>T (p.Arg122Ter)
n.366C>T
c.2188C>T (p.Arg730Ter)
n.1085C>T
n.667C>T
n.1086C>T
n.3060C>T
c.1423C>T (p.Arg475Ter)
c.9568C>T (p.Arg3190Ter)
c.5536C>T (p.Arg1846Ter)
c.241C>T (p.Arg81Ter)
c.307C>T (p.Arg103Ter)
n.498C>T
c.1381C>T (p.Arg461Ter)
c.2656C>T (p.Arg886Ter)
c.9556C>T (p.Arg3186Ter)
c.9553C>T (p.Arg3185Ter)
c.9565C>T (p.Arg3189Ter)
c.9544C>T (p.Arg3182Ter)
c.9199C>T (p.Arg3067Ter)
c.5545C>T (p.Arg1849Ter)
c.9439C>T (p.Arg3147Ter)
c.9430C>T (p.Arg3144Ter)
c.9445C>T (p.Arg3149Ter)
c.3742C>T (p.Arg1248Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31206663G>CCA412649627DMDc.4414C>G (p.Arg1472Gly)
c.364C>G (p.Arg122Gly)
n.366C>G
c.2188C>G (p.Arg730Gly)
n.1085C>G
n.667C>G
n.1086C>G
n.3060C>G
c.1423C>G (p.Arg475Gly)
c.9568C>G (p.Arg3190Gly)
c.5536C>G (p.Arg1846Gly)
c.241C>G (p.Arg81Gly)
c.307C>G (p.Arg103Gly)
n.498C>G
c.1381C>G (p.Arg461Gly)
c.2656C>G (p.Arg886Gly)
c.9556C>G (p.Arg3186Gly)
c.9553C>G (p.Arg3185Gly)
c.9565C>G (p.Arg3189Gly)
c.9544C>G (p.Arg3182Gly)
c.9199C>G (p.Arg3067Gly)
c.5545C>G (p.Arg1849Gly)
c.9439C>G (p.Arg3147Gly)
c.9430C>G (p.Arg3144Gly)
c.9445C>G (p.Arg3149Gly)
c.3742C>G (p.Arg1248Gly)
Xg.31206663G=CA2422348467DMDc.4414C= (p.Arg1472=)
c.364C= (p.Arg122=)
n.366C=
c.2188C= (p.Arg730=)
n.1085C=
n.667C=
n.1086C=
n.3060C=
c.1423C= (p.Arg475=)
c.9568C= (p.Arg3190=)
c.5536C= (p.Arg1846=)
c.241C= (p.Arg81=)
c.307C= (p.Arg103=)
n.498C=
c.1381C= (p.Arg461=)
c.2656C= (p.Arg886=)
c.9556C= (p.Arg3186=)
c.9553C= (p.Arg3185=)
c.9565C= (p.Arg3189=)
c.9544C= (p.Arg3182=)
c.9199C= (p.Arg3067=)
c.5545C= (p.Arg1849=)
c.9439C= (p.Arg3147=)
c.9430C= (p.Arg3144=)
c.9445C= (p.Arg3149=)
c.3742C= (p.Arg1248=)
Xg.31206663G>TCA515857097DMDc.4414C>A (p.Arg1472=)
c.364C>A (p.Arg122=)
n.366C>A
c.2188C>A (p.Arg730=)
n.1085C>A
n.667C>A
n.1086C>A
n.3060C>A
c.1423C>A (p.Arg475=)
c.9568C>A (p.Arg3190=)
c.5536C>A (p.Arg1846=)
c.241C>A (p.Arg81=)
c.307C>A (p.Arg103=)
n.498C>A
c.1381C>A (p.Arg461=)
c.2656C>A (p.Arg886=)
c.9556C>A (p.Arg3186=)
c.9553C>A (p.Arg3185=)
c.9565C>A (p.Arg3189=)
c.9544C>A (p.Arg3182=)
c.9199C>A (p.Arg3067=)
c.5545C>A (p.Arg1849=)
c.9439C>A (p.Arg3147=)
c.9430C>A (p.Arg3144=)
c.9445C>A (p.Arg3149=)
c.3742C>A (p.Arg1248=)
Xg.31206664T>ACA515857098DMDc.4413A>T (p.Gly1471=)
c.363A>T (p.Gly121=)
n.365A>T
c.2187A>T (p.Gly729=)
n.1084A>T
n.666A>T
n.1085A>T
n.3059A>T
c.1422A>T (p.Gly474=)
c.9567A>T (p.Gly3189=)
c.5535A>T (p.Gly1845=)
c.240A>T (p.Gly80=)
c.306A>T (p.Gly102=)
n.497A>T
c.1380A>T (p.Gly460=)
c.2655A>T (p.Gly885=)
c.9555A>T (p.Gly3185=)
c.9552A>T (p.Gly3184=)
c.9564A>T (p.Gly3188=)
c.9543A>T (p.Gly3181=)
c.9198A>T (p.Gly3066=)
c.5544A>T (p.Gly1848=)
c.9438A>T (p.Gly3146=)
c.9429A>T (p.Gly3143=)
c.9444A>T (p.Gly3148=)
c.3741A>T (p.Gly1247=)
Xg.31206664T>CCA515857099DMDc.4413A>G (p.Gly1471=)
c.363A>G (p.Gly121=)
n.365A>G
c.2187A>G (p.Gly729=)
n.1084A>G
n.666A>G
n.1085A>G
n.3059A>G
c.1422A>G (p.Gly474=)
c.9567A>G (p.Gly3189=)
c.5535A>G (p.Gly1845=)
c.240A>G (p.Gly80=)
c.306A>G (p.Gly102=)
n.497A>G
c.1380A>G (p.Gly460=)
c.2655A>G (p.Gly885=)
c.9555A>G (p.Gly3185=)
c.9552A>G (p.Gly3184=)
c.9564A>G (p.Gly3188=)
c.9543A>G (p.Gly3181=)
c.9198A>G (p.Gly3066=)
c.5544A>G (p.Gly1848=)
c.9438A>G (p.Gly3146=)
c.9429A>G (p.Gly3143=)
c.9444A>G (p.Gly3148=)
c.3741A>G (p.Gly1247=)
Xg.31206664T>GCA515857100DMDc.4413A>C (p.Gly1471=)
c.363A>C (p.Gly121=)
n.365A>C
c.2187A>C (p.Gly729=)
n.1084A>C
n.666A>C
n.1085A>C
n.3059A>C
c.1422A>C (p.Gly474=)
c.9567A>C (p.Gly3189=)
c.5535A>C (p.Gly1845=)
c.240A>C (p.Gly80=)
c.306A>C (p.Gly102=)
n.497A>C
c.1380A>C (p.Gly460=)
c.2655A>C (p.Gly885=)
c.9555A>C (p.Gly3185=)
c.9552A>C (p.Gly3184=)
c.9564A>C (p.Gly3188=)
c.9543A>C (p.Gly3181=)
c.9198A>C (p.Gly3066=)
c.5544A>C (p.Gly1848=)
c.9438A>C (p.Gly3146=)
c.9429A>C (p.Gly3143=)
c.9444A>C (p.Gly3148=)
c.3741A>C (p.Gly1247=)
 gnomAD v4
Xg.31206665C>ACA412649629DMDc.4412G>T (p.Gly1471Val)
c.362G>T (p.Gly121Val)
n.364G>T
c.2186G>T (p.Gly729Val)
n.1083G>T
n.665G>T
n.1084G>T
n.3058G>T
c.1421G>T (p.Gly474Val)
c.9566G>T (p.Gly3189Val)
c.5534G>T (p.Gly1845Val)
c.239G>T (p.Gly80Val)
c.305G>T (p.Gly102Val)
n.496G>T
c.1379G>T (p.Gly460Val)
c.2654G>T (p.Gly885Val)
c.9554G>T (p.Gly3185Val)
c.9551G>T (p.Gly3184Val)
c.9563G>T (p.Gly3188Val)
c.9542G>T (p.Gly3181Val)
c.9197G>T (p.Gly3066Val)
c.5543G>T (p.Gly1848Val)
c.9437G>T (p.Gly3146Val)
c.9428G>T (p.Gly3143Val)
c.9443G>T (p.Gly3148Val)
c.3740G>T (p.Gly1247Val)
 gnomAD v4
Xg.31206665C>GCA412649630DMDc.4412G>C (p.Gly1471Ala)
c.362G>C (p.Gly121Ala)
n.364G>C
c.2186G>C (p.Gly729Ala)
n.1083G>C
n.665G>C
n.1084G>C
n.3058G>C
c.1421G>C (p.Gly474Ala)
c.9566G>C (p.Gly3189Ala)
c.5534G>C (p.Gly1845Ala)
c.239G>C (p.Gly80Ala)
c.305G>C (p.Gly102Ala)
n.496G>C
c.1379G>C (p.Gly460Ala)
c.2654G>C (p.Gly885Ala)
c.9554G>C (p.Gly3185Ala)
c.9551G>C (p.Gly3184Ala)
c.9563G>C (p.Gly3188Ala)
c.9542G>C (p.Gly3181Ala)
c.9197G>C (p.Gly3066Ala)
c.5543G>C (p.Gly1848Ala)
c.9437G>C (p.Gly3146Ala)
c.9428G>C (p.Gly3143Ala)
c.9443G>C (p.Gly3148Ala)
c.3740G>C (p.Gly1247Ala)
Xg.31206665C>TCA412649632DMDc.4412G>A (p.Gly1471Glu)
c.362G>A (p.Gly121Glu)
n.364G>A
c.2186G>A (p.Gly729Glu)
n.1083G>A
n.665G>A
n.1084G>A
n.3058G>A
c.1421G>A (p.Gly474Glu)
c.9566G>A (p.Gly3189Glu)
c.5534G>A (p.Gly1845Glu)
c.239G>A (p.Gly80Glu)
c.305G>A (p.Gly102Glu)
n.496G>A
c.1379G>A (p.Gly460Glu)
c.2654G>A (p.Gly885Glu)
c.9554G>A (p.Gly3185Glu)
c.9551G>A (p.Gly3184Glu)
c.9563G>A (p.Gly3188Glu)
c.9542G>A (p.Gly3181Glu)
c.9197G>A (p.Gly3066Glu)
c.5543G>A (p.Gly1848Glu)
c.9437G>A (p.Gly3146Glu)
c.9428G>A (p.Gly3143Glu)
c.9443G>A (p.Gly3148Glu)
c.3740G>A (p.Gly1247Glu)
Xg.31206666C>ACA412649633DMDc.4411G>T (p.Gly1471Ter)
c.361G>T (p.Gly121Ter)
n.363G>T
c.2185G>T (p.Gly729Ter)
n.1082G>T
n.664G>T
n.1083G>T
n.3057G>T
c.1420G>T (p.Gly474Ter)
c.9565G>T (p.Gly3189Ter)
c.5533G>T (p.Gly1845Ter)
c.238G>T (p.Gly80Ter)
c.304G>T (p.Gly102Ter)
n.495G>T
c.1378G>T (p.Gly460Ter)
c.2653G>T (p.Gly885Ter)
c.9553G>T (p.Gly3185Ter)
c.9550G>T (p.Gly3184Ter)
c.9562G>T (p.Gly3188Ter)
c.9541G>T (p.Gly3181Ter)
c.9196G>T (p.Gly3066Ter)
c.5542G>T (p.Gly1848Ter)
c.9436G>T (p.Gly3146Ter)
c.9427G>T (p.Gly3143Ter)
c.9442G>T (p.Gly3148Ter)
c.3739G>T (p.Gly1247Ter)
Xg.31206666C>GCA412649635DMDc.4411G>C (p.Gly1471Arg)
c.361G>C (p.Gly121Arg)
n.363G>C
c.2185G>C (p.Gly729Arg)
n.1082G>C
n.664G>C
n.1083G>C
n.3057G>C
c.1420G>C (p.Gly474Arg)
c.9565G>C (p.Gly3189Arg)
c.5533G>C (p.Gly1845Arg)
c.238G>C (p.Gly80Arg)
c.304G>C (p.Gly102Arg)
n.495G>C
c.1378G>C (p.Gly460Arg)
c.2653G>C (p.Gly885Arg)
c.9553G>C (p.Gly3185Arg)
c.9550G>C (p.Gly3184Arg)
c.9562G>C (p.Gly3188Arg)
c.9541G>C (p.Gly3181Arg)
c.9196G>C (p.Gly3066Arg)
c.5542G>C (p.Gly1848Arg)
c.9436G>C (p.Gly3146Arg)
c.9427G>C (p.Gly3143Arg)
c.9442G>C (p.Gly3148Arg)
c.3739G>C (p.Gly1247Arg)
Xg.31206666C>TCA412649637DMDc.4411G>A (p.Gly1471Arg)
c.361G>A (p.Gly121Arg)
n.363G>A
c.2185G>A (p.Gly729Arg)
n.1082G>A
n.664G>A
n.1083G>A
n.3057G>A
c.1420G>A (p.Gly474Arg)
c.9565G>A (p.Gly3189Arg)
c.5533G>A (p.Gly1845Arg)
c.238G>A (p.Gly80Arg)
c.304G>A (p.Gly102Arg)
n.495G>A
c.1378G>A (p.Gly460Arg)
c.2653G>A (p.Gly885Arg)
c.9553G>A (p.Gly3185Arg)
c.9550G>A (p.Gly3184Arg)
c.9562G>A (p.Gly3188Arg)
c.9541G>A (p.Gly3181Arg)
c.9196G>A (p.Gly3066Arg)
c.5542G>A (p.Gly1848Arg)
c.9436G>A (p.Gly3146Arg)
c.9427G>A (p.Gly3143Arg)
c.9442G>A (p.Gly3148Arg)
c.3739G>A (p.Gly1247Arg)
 ClinVar

Number of alleles fetched