Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71669083A>GCA426704300DYSFc.2961-29A>G (n.2961-29A>G)
c.2178-29A>G (n.2178-29A>G)
c.2286-29A>G (n.2286-29A>G)
c.5430-29A>G (n.5430-29A>G)
c.5547-29A>G (n.5547-29A>G)
c.5433-29A>G (n.5433-29A>G)
c.5496-29A>G (n.5496-29A>G)
c.5544-29A>G (n.5544-29A>G)
c.5526-29A>G (n.5526-29A>G)
c.5454-29A>G (n.5454-29A>G)
c.5481-29A>G (n.5481-29A>G)
c.5484-29A>G (n.5484-29A>G)
c.5523-29A>G (n.5523-29A>G)
c.5493-29A>G (n.5493-29A>G)
n.2315-29A>G
c.5388-29A>G (n.5388-29A>G)
c.5451-29A>G (n.5451-29A>G)
c.5391-29A>G (n.5391-29A>G)
c.5589-29A>G (n.5589-29A>G)
c.5586-29A>G (n.5586-29A>G)
 gnomAD v4
2g.71669083A>TCA2577000805DYSFc.2961-29A>T (n.2961-29A>T)
c.2178-29A>T (n.2178-29A>T)
c.2286-29A>T (n.2286-29A>T)
c.5430-29A>T (n.5430-29A>T)
c.5547-29A>T (n.5547-29A>T)
c.5433-29A>T (n.5433-29A>T)
c.5496-29A>T (n.5496-29A>T)
c.5544-29A>T (n.5544-29A>T)
c.5526-29A>T (n.5526-29A>T)
c.5454-29A>T (n.5454-29A>T)
c.5481-29A>T (n.5481-29A>T)
c.5484-29A>T (n.5484-29A>T)
c.5523-29A>T (n.5523-29A>T)
c.5493-29A>T (n.5493-29A>T)
n.2315-29A>T
c.5388-29A>T (n.5388-29A>T)
c.5451-29A>T (n.5451-29A>T)
c.5391-29A>T (n.5391-29A>T)
c.5589-29A>T (n.5589-29A>T)
c.5586-29A>T (n.5586-29A>T)
2g.71669084G>ACA1260152165DYSFc.2961-28G>A (n.2961-28G>A)
c.2178-28G>A (n.2178-28G>A)
c.2286-28G>A (n.2286-28G>A)
c.5430-28G>A (n.5430-28G>A)
c.5547-28G>A (n.5547-28G>A)
c.5433-28G>A (n.5433-28G>A)
c.5496-28G>A (n.5496-28G>A)
c.5544-28G>A (n.5544-28G>A)
c.5526-28G>A (n.5526-28G>A)
c.5454-28G>A (n.5454-28G>A)
c.5481-28G>A (n.5481-28G>A)
c.5484-28G>A (n.5484-28G>A)
c.5523-28G>A (n.5523-28G>A)
c.5493-28G>A (n.5493-28G>A)
n.2315-28G>A
c.5388-28G>A (n.5388-28G>A)
c.5451-28G>A (n.5451-28G>A)
c.5391-28G>A (n.5391-28G>A)
c.5589-28G>A (n.5589-28G>A)
c.5586-28G>A (n.5586-28G>A)
 dbSNP
2g.71669084G>CCA533264575DYSFc.2961-28G>C (n.2961-28G>C)
c.2178-28G>C (n.2178-28G>C)
c.2286-28G>C (n.2286-28G>C)
c.5430-28G>C (n.5430-28G>C)
c.5547-28G>C (n.5547-28G>C)
c.5433-28G>C (n.5433-28G>C)
c.5496-28G>C (n.5496-28G>C)
c.5544-28G>C (n.5544-28G>C)
c.5526-28G>C (n.5526-28G>C)
c.5454-28G>C (n.5454-28G>C)
c.5481-28G>C (n.5481-28G>C)
c.5484-28G>C (n.5484-28G>C)
c.5523-28G>C (n.5523-28G>C)
c.5493-28G>C (n.5493-28G>C)
n.2315-28G>C
c.5388-28G>C (n.5388-28G>C)
c.5451-28G>C (n.5451-28G>C)
c.5391-28G>C (n.5391-28G>C)
c.5589-28G>C (n.5589-28G>C)
c.5586-28G>C (n.5586-28G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.71669084G=CA1260152166DYSFc.2961-28G= (n.2961-28G=)
c.2178-28G= (n.2178-28G=)
c.2286-28G= (n.2286-28G=)
c.5430-28G= (n.5430-28G=)
c.5547-28G= (n.5547-28G=)
c.5433-28G= (n.5433-28G=)
c.5496-28G= (n.5496-28G=)
c.5544-28G= (n.5544-28G=)
c.5526-28G= (n.5526-28G=)
c.5454-28G= (n.5454-28G=)
c.5481-28G= (n.5481-28G=)
c.5484-28G= (n.5484-28G=)
c.5523-28G= (n.5523-28G=)
c.5493-28G= (n.5493-28G=)
n.2315-28G=
c.5388-28G= (n.5388-28G=)
c.5451-28G= (n.5451-28G=)
c.5391-28G= (n.5391-28G=)
c.5589-28G= (n.5589-28G=)
c.5586-28G= (n.5586-28G=)
2g.71669084G>TCA2659555449DYSFc.2961-28G>T (n.2961-28G>T)
c.2178-28G>T (n.2178-28G>T)
c.2286-28G>T (n.2286-28G>T)
c.5430-28G>T (n.5430-28G>T)
c.5547-28G>T (n.5547-28G>T)
c.5433-28G>T (n.5433-28G>T)
c.5496-28G>T (n.5496-28G>T)
c.5544-28G>T (n.5544-28G>T)
c.5526-28G>T (n.5526-28G>T)
c.5454-28G>T (n.5454-28G>T)
c.5481-28G>T (n.5481-28G>T)
c.5484-28G>T (n.5484-28G>T)
c.5523-28G>T (n.5523-28G>T)
c.5493-28G>T (n.5493-28G>T)
n.2315-28G>T
c.5388-28G>T (n.5388-28G>T)
c.5451-28G>T (n.5451-28G>T)
c.5391-28G>T (n.5391-28G>T)
c.5589-28G>T (n.5589-28G>T)
c.5586-28G>T (n.5586-28G>T)
 gnomAD v4
2g.71669085G>ACA1707431DYSFc.2961-27G>A (n.2961-27G>A)
c.2178-27G>A (n.2178-27G>A)
c.2286-27G>A (n.2286-27G>A)
c.5430-27G>A (n.5430-27G>A)
c.5547-27G>A (n.5547-27G>A)
c.5433-27G>A (n.5433-27G>A)
c.5496-27G>A (n.5496-27G>A)
c.5544-27G>A (n.5544-27G>A)
c.5526-27G>A (n.5526-27G>A)
c.5454-27G>A (n.5454-27G>A)
c.5481-27G>A (n.5481-27G>A)
c.5484-27G>A (n.5484-27G>A)
c.5523-27G>A (n.5523-27G>A)
c.5493-27G>A (n.5493-27G>A)
n.2315-27G>A
c.5388-27G>A (n.5388-27G>A)
c.5451-27G>A (n.5451-27G>A)
c.5391-27G>A (n.5391-27G>A)
c.5589-27G>A (n.5589-27G>A)
c.5586-27G>A (n.5586-27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71669085G=CA1260152167DYSFc.2961-27G= (n.2961-27G=)
c.2178-27G= (n.2178-27G=)
c.2286-27G= (n.2286-27G=)
c.5430-27G= (n.5430-27G=)
c.5547-27G= (n.5547-27G=)
c.5433-27G= (n.5433-27G=)
c.5496-27G= (n.5496-27G=)
c.5544-27G= (n.5544-27G=)
c.5526-27G= (n.5526-27G=)
c.5454-27G= (n.5454-27G=)
c.5481-27G= (n.5481-27G=)
c.5484-27G= (n.5484-27G=)
c.5523-27G= (n.5523-27G=)
c.5493-27G= (n.5493-27G=)
n.2315-27G=
c.5388-27G= (n.5388-27G=)
c.5451-27G= (n.5451-27G=)
c.5391-27G= (n.5391-27G=)
c.5589-27G= (n.5589-27G=)
c.5586-27G= (n.5586-27G=)
2g.71669087G>ACA533264576DYSFc.2961-25G>A (n.2961-25G>A)
c.2178-25G>A (n.2178-25G>A)
c.2286-25G>A (n.2286-25G>A)
c.5430-25G>A (n.5430-25G>A)
c.5547-25G>A (n.5547-25G>A)
c.5433-25G>A (n.5433-25G>A)
c.5496-25G>A (n.5496-25G>A)
c.5544-25G>A (n.5544-25G>A)
c.5526-25G>A (n.5526-25G>A)
c.5454-25G>A (n.5454-25G>A)
c.5481-25G>A (n.5481-25G>A)
c.5484-25G>A (n.5484-25G>A)
c.5523-25G>A (n.5523-25G>A)
c.5493-25G>A (n.5493-25G>A)
n.2315-25G>A
c.5388-25G>A (n.5388-25G>A)
c.5451-25G>A (n.5451-25G>A)
c.5391-25G>A (n.5391-25G>A)
c.5589-25G>A (n.5589-25G>A)
c.5586-25G>A (n.5586-25G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.71669087G=CA1260152168DYSFc.2961-25G= (n.2961-25G=)
c.2178-25G= (n.2178-25G=)
c.2286-25G= (n.2286-25G=)
c.5430-25G= (n.5430-25G=)
c.5547-25G= (n.5547-25G=)
c.5433-25G= (n.5433-25G=)
c.5496-25G= (n.5496-25G=)
c.5544-25G= (n.5544-25G=)
c.5526-25G= (n.5526-25G=)
c.5454-25G= (n.5454-25G=)
c.5481-25G= (n.5481-25G=)
c.5484-25G= (n.5484-25G=)
c.5523-25G= (n.5523-25G=)
c.5493-25G= (n.5493-25G=)
n.2315-25G=
c.5388-25G= (n.5388-25G=)
c.5451-25G= (n.5451-25G=)
c.5391-25G= (n.5391-25G=)
c.5589-25G= (n.5589-25G=)
c.5586-25G= (n.5586-25G=)
2g.71669087G>TCA1707432DYSFc.2961-25G>T (n.2961-25G>T)
c.2178-25G>T (n.2178-25G>T)
c.2286-25G>T (n.2286-25G>T)
c.5430-25G>T (n.5430-25G>T)
c.5547-25G>T (n.5547-25G>T)
c.5433-25G>T (n.5433-25G>T)
c.5496-25G>T (n.5496-25G>T)
c.5544-25G>T (n.5544-25G>T)
c.5526-25G>T (n.5526-25G>T)
c.5454-25G>T (n.5454-25G>T)
c.5481-25G>T (n.5481-25G>T)
c.5484-25G>T (n.5484-25G>T)
c.5523-25G>T (n.5523-25G>T)
c.5493-25G>T (n.5493-25G>T)
n.2315-25G>T
c.5388-25G>T (n.5388-25G>T)
c.5451-25G>T (n.5451-25G>T)
c.5391-25G>T (n.5391-25G>T)
c.5589-25G>T (n.5589-25G>T)
c.5586-25G>T (n.5586-25G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71669092A>GCA2659555450DYSFc.2961-20A>G (n.2961-20A>G)
c.2178-20A>G (n.2178-20A>G)
c.2286-20A>G (n.2286-20A>G)
c.5430-20A>G (n.5430-20A>G)
c.5547-20A>G (n.5547-20A>G)
c.5433-20A>G (n.5433-20A>G)
c.5496-20A>G (n.5496-20A>G)
c.5544-20A>G (n.5544-20A>G)
c.5526-20A>G (n.5526-20A>G)
c.5454-20A>G (n.5454-20A>G)
c.5481-20A>G (n.5481-20A>G)
c.5484-20A>G (n.5484-20A>G)
c.5523-20A>G (n.5523-20A>G)
c.5493-20A>G (n.5493-20A>G)
n.2315-20A>G
c.5388-20A>G (n.5388-20A>G)
c.5451-20A>G (n.5451-20A>G)
c.5391-20A>G (n.5391-20A>G)
c.5589-20A>G (n.5589-20A>G)
c.5586-20A>G (n.5586-20A>G)
 gnomAD v4
2g.71669093G>CCA1260152170DYSFc.2961-19G>C (n.2961-19G>C)
c.2178-19G>C (n.2178-19G>C)
c.2286-19G>C (n.2286-19G>C)
c.5430-19G>C (n.5430-19G>C)
c.5547-19G>C (n.5547-19G>C)
c.5433-19G>C (n.5433-19G>C)
c.5496-19G>C (n.5496-19G>C)
c.5544-19G>C (n.5544-19G>C)
c.5526-19G>C (n.5526-19G>C)
c.5454-19G>C (n.5454-19G>C)
c.5481-19G>C (n.5481-19G>C)
c.5484-19G>C (n.5484-19G>C)
c.5523-19G>C (n.5523-19G>C)
c.5493-19G>C (n.5493-19G>C)
n.2315-19G>C
c.5388-19G>C (n.5388-19G>C)
c.5451-19G>C (n.5451-19G>C)
c.5391-19G>C (n.5391-19G>C)
c.5589-19G>C (n.5589-19G>C)
c.5586-19G>C (n.5586-19G>C)
 dbSNP
2g.71669093G=CA1260152169DYSFc.2961-19G= (n.2961-19G=)
c.2178-19G= (n.2178-19G=)
c.2286-19G= (n.2286-19G=)
c.5430-19G= (n.5430-19G=)
c.5547-19G= (n.5547-19G=)
c.5433-19G= (n.5433-19G=)
c.5496-19G= (n.5496-19G=)
c.5544-19G= (n.5544-19G=)
c.5526-19G= (n.5526-19G=)
c.5454-19G= (n.5454-19G=)
c.5481-19G= (n.5481-19G=)
c.5484-19G= (n.5484-19G=)
c.5523-19G= (n.5523-19G=)
c.5493-19G= (n.5493-19G=)
n.2315-19G=
c.5388-19G= (n.5388-19G=)
c.5451-19G= (n.5451-19G=)
c.5391-19G= (n.5391-19G=)
c.5589-19G= (n.5589-19G=)
c.5586-19G= (n.5586-19G=)
2g.71669094A=CA1260152171DYSFc.2961-18A= (n.2961-18A=)
c.2178-18A= (n.2178-18A=)
c.2286-18A= (n.2286-18A=)
c.5430-18A= (n.5430-18A=)
c.5547-18A= (n.5547-18A=)
c.5433-18A= (n.5433-18A=)
c.5496-18A= (n.5496-18A=)
c.5544-18A= (n.5544-18A=)
c.5526-18A= (n.5526-18A=)
c.5454-18A= (n.5454-18A=)
c.5481-18A= (n.5481-18A=)
c.5484-18A= (n.5484-18A=)
c.5523-18A= (n.5523-18A=)
c.5493-18A= (n.5493-18A=)
n.2315-18A=
c.5388-18A= (n.5388-18A=)
c.5451-18A= (n.5451-18A=)
c.5391-18A= (n.5391-18A=)
c.5589-18A= (n.5589-18A=)
c.5586-18A= (n.5586-18A=)
2g.71669094A>CCA2739271053DYSFc.2961-18A>C (n.2961-18A>C)
c.2178-18A>C (n.2178-18A>C)
c.2286-18A>C (n.2286-18A>C)
c.5430-18A>C (n.5430-18A>C)
c.5547-18A>C (n.5547-18A>C)
c.5433-18A>C (n.5433-18A>C)
c.5496-18A>C (n.5496-18A>C)
c.5544-18A>C (n.5544-18A>C)
c.5526-18A>C (n.5526-18A>C)
c.5454-18A>C (n.5454-18A>C)
c.5481-18A>C (n.5481-18A>C)
c.5484-18A>C (n.5484-18A>C)
c.5523-18A>C (n.5523-18A>C)
c.5493-18A>C (n.5493-18A>C)
n.2315-18A>C
c.5388-18A>C (n.5388-18A>C)
c.5451-18A>C (n.5451-18A>C)
c.5391-18A>C (n.5391-18A>C)
c.5589-18A>C (n.5589-18A>C)
c.5586-18A>C (n.5586-18A>C)
 ClinVar
2g.71669094A>GCA49768983DYSFc.2961-18A>G (n.2961-18A>G)
c.2178-18A>G (n.2178-18A>G)
c.2286-18A>G (n.2286-18A>G)
c.5430-18A>G (n.5430-18A>G)
c.5547-18A>G (n.5547-18A>G)
c.5433-18A>G (n.5433-18A>G)
c.5496-18A>G (n.5496-18A>G)
c.5544-18A>G (n.5544-18A>G)
c.5526-18A>G (n.5526-18A>G)
c.5454-18A>G (n.5454-18A>G)
c.5481-18A>G (n.5481-18A>G)
c.5484-18A>G (n.5484-18A>G)
c.5523-18A>G (n.5523-18A>G)
c.5493-18A>G (n.5493-18A>G)
n.2315-18A>G
c.5388-18A>G (n.5388-18A>G)
c.5451-18A>G (n.5451-18A>G)
c.5391-18A>G (n.5391-18A>G)
c.5589-18A>G (n.5589-18A>G)
c.5586-18A>G (n.5586-18A>G)
 dbSNP
2g.71669095G>ACA2659555451DYSFc.2961-17G>A (n.2961-17G>A)
c.2178-17G>A (n.2178-17G>A)
c.2286-17G>A (n.2286-17G>A)
c.5430-17G>A (n.5430-17G>A)
c.5547-17G>A (n.5547-17G>A)
c.5433-17G>A (n.5433-17G>A)
c.5496-17G>A (n.5496-17G>A)
c.5544-17G>A (n.5544-17G>A)
c.5526-17G>A (n.5526-17G>A)
c.5454-17G>A (n.5454-17G>A)
c.5481-17G>A (n.5481-17G>A)
c.5484-17G>A (n.5484-17G>A)
c.5523-17G>A (n.5523-17G>A)
c.5493-17G>A (n.5493-17G>A)
n.2315-17G>A
c.5388-17G>A (n.5388-17G>A)
c.5451-17G>A (n.5451-17G>A)
c.5391-17G>A (n.5391-17G>A)
c.5589-17G>A (n.5589-17G>A)
c.5586-17G>A (n.5586-17G>A)
 gnomAD v4
2g.71669095G>CCA2659555452DYSFc.2961-17G>C (n.2961-17G>C)
c.2178-17G>C (n.2178-17G>C)
c.2286-17G>C (n.2286-17G>C)
c.5430-17G>C (n.5430-17G>C)
c.5547-17G>C (n.5547-17G>C)
c.5433-17G>C (n.5433-17G>C)
c.5496-17G>C (n.5496-17G>C)
c.5544-17G>C (n.5544-17G>C)
c.5526-17G>C (n.5526-17G>C)
c.5454-17G>C (n.5454-17G>C)
c.5481-17G>C (n.5481-17G>C)
c.5484-17G>C (n.5484-17G>C)
c.5523-17G>C (n.5523-17G>C)
c.5493-17G>C (n.5493-17G>C)
n.2315-17G>C
c.5388-17G>C (n.5388-17G>C)
c.5451-17G>C (n.5451-17G>C)
c.5391-17G>C (n.5391-17G>C)
c.5589-17G>C (n.5589-17G>C)
c.5586-17G>C (n.5586-17G>C)
 ClinVar gnomAD v4
2g.71669097_71669113delCA1139532905DYSFc.2961-15_2962del
c.2178-15_2179del
c.2286-15_2287del
c.5430-15_5431del
c.5547-15_5548del
c.5433-15_5434del
c.5496-15_5497del
c.5544-15_5545del
c.5526-15_5527del
c.5454-15_5455del
c.5481-15_5482del
c.5484-15_5485del
c.5523-15_5524del
c.5493-15_5494del
n.2315-15_2316del
c.5388-15_5389del
c.5451-15_5452del
c.5391-15_5392del
c.5589-15_5590del
c.5586-15_5587del
2g.71669096T>CCA533264577DYSFc.2961-16T>C (n.2961-16T>C)
c.2178-16T>C (n.2178-16T>C)
c.2286-16T>C (n.2286-16T>C)
c.5430-16T>C (n.5430-16T>C)
c.5547-16T>C (n.5547-16T>C)
c.5433-16T>C (n.5433-16T>C)
c.5496-16T>C (n.5496-16T>C)
c.5544-16T>C (n.5544-16T>C)
c.5526-16T>C (n.5526-16T>C)
c.5454-16T>C (n.5454-16T>C)
c.5481-16T>C (n.5481-16T>C)
c.5484-16T>C (n.5484-16T>C)
c.5523-16T>C (n.5523-16T>C)
c.5493-16T>C (n.5493-16T>C)
n.2315-16T>C
c.5388-16T>C (n.5388-16T>C)
c.5451-16T>C (n.5451-16T>C)
c.5391-16T>C (n.5391-16T>C)
c.5589-16T>C (n.5589-16T>C)
c.5586-16T>C (n.5586-16T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.71669096T=CA1260152172DYSFc.2961-16T= (n.2961-16T=)
c.2178-16T= (n.2178-16T=)
c.2286-16T= (n.2286-16T=)
c.5430-16T= (n.5430-16T=)
c.5547-16T= (n.5547-16T=)
c.5433-16T= (n.5433-16T=)
c.5496-16T= (n.5496-16T=)
c.5544-16T= (n.5544-16T=)
c.5526-16T= (n.5526-16T=)
c.5454-16T= (n.5454-16T=)
c.5481-16T= (n.5481-16T=)
c.5484-16T= (n.5484-16T=)
c.5523-16T= (n.5523-16T=)
c.5493-16T= (n.5493-16T=)
n.2315-16T=
c.5388-16T= (n.5388-16T=)
c.5451-16T= (n.5451-16T=)
c.5391-16T= (n.5391-16T=)
c.5589-16T= (n.5589-16T=)
c.5586-16T= (n.5586-16T=)
2g.71669097G>ACA2659555453DYSFc.2961-15G>A (n.2961-15G>A)
c.2178-15G>A (n.2178-15G>A)
c.2286-15G>A (n.2286-15G>A)
c.5430-15G>A (n.5430-15G>A)
c.5547-15G>A (n.5547-15G>A)
c.5433-15G>A (n.5433-15G>A)
c.5496-15G>A (n.5496-15G>A)
c.5544-15G>A (n.5544-15G>A)
c.5526-15G>A (n.5526-15G>A)
c.5454-15G>A (n.5454-15G>A)
c.5481-15G>A (n.5481-15G>A)
c.5484-15G>A (n.5484-15G>A)
c.5523-15G>A (n.5523-15G>A)
c.5493-15G>A (n.5493-15G>A)
n.2315-15G>A
c.5388-15G>A (n.5388-15G>A)
c.5451-15G>A (n.5451-15G>A)
c.5391-15G>A (n.5391-15G>A)
c.5589-15G>A (n.5589-15G>A)
c.5586-15G>A (n.5586-15G>A)
 gnomAD v4
2g.71669097G>CCA2699656081DYSFc.2961-15G>C (n.2961-15G>C)
c.2178-15G>C (n.2178-15G>C)
c.2286-15G>C (n.2286-15G>C)
c.5430-15G>C (n.5430-15G>C)
c.5547-15G>C (n.5547-15G>C)
c.5433-15G>C (n.5433-15G>C)
c.5496-15G>C (n.5496-15G>C)
c.5544-15G>C (n.5544-15G>C)
c.5526-15G>C (n.5526-15G>C)
c.5454-15G>C (n.5454-15G>C)
c.5481-15G>C (n.5481-15G>C)
c.5484-15G>C (n.5484-15G>C)
c.5523-15G>C (n.5523-15G>C)
c.5493-15G>C (n.5493-15G>C)
n.2315-15G>C
c.5388-15G>C (n.5388-15G>C)
c.5451-15G>C (n.5451-15G>C)
c.5391-15G>C (n.5391-15G>C)
c.5589-15G>C (n.5589-15G>C)
c.5586-15G>C (n.5586-15G>C)
 dbSNP
2g.71669097G>TCA2659555454DYSFc.2961-15G>T (n.2961-15G>T)
c.2178-15G>T (n.2178-15G>T)
c.2286-15G>T (n.2286-15G>T)
c.5430-15G>T (n.5430-15G>T)
c.5547-15G>T (n.5547-15G>T)
c.5433-15G>T (n.5433-15G>T)
c.5496-15G>T (n.5496-15G>T)
c.5544-15G>T (n.5544-15G>T)
c.5526-15G>T (n.5526-15G>T)
c.5454-15G>T (n.5454-15G>T)
c.5481-15G>T (n.5481-15G>T)
c.5484-15G>T (n.5484-15G>T)
c.5523-15G>T (n.5523-15G>T)
c.5493-15G>T (n.5493-15G>T)
n.2315-15G>T
c.5388-15G>T (n.5388-15G>T)
c.5451-15G>T (n.5451-15G>T)
c.5391-15G>T (n.5391-15G>T)
c.5589-15G>T (n.5589-15G>T)
c.5586-15G>T (n.5586-15G>T)
 gnomAD v4
2g.71669098A>TCA2573135972DYSFc.2961-14A>T (n.2961-14A>T)
c.2178-14A>T (n.2178-14A>T)
c.2286-14A>T (n.2286-14A>T)
c.5430-14A>T (n.5430-14A>T)
c.5547-14A>T (n.5547-14A>T)
c.5433-14A>T (n.5433-14A>T)
c.5496-14A>T (n.5496-14A>T)
c.5544-14A>T (n.5544-14A>T)
c.5526-14A>T (n.5526-14A>T)
c.5454-14A>T (n.5454-14A>T)
c.5481-14A>T (n.5481-14A>T)
c.5484-14A>T (n.5484-14A>T)
c.5523-14A>T (n.5523-14A>T)
c.5493-14A>T (n.5493-14A>T)
n.2315-14A>T
c.5388-14A>T (n.5388-14A>T)
c.5451-14A>T (n.5451-14A>T)
c.5391-14A>T (n.5391-14A>T)
c.5589-14A>T (n.5589-14A>T)
c.5586-14A>T (n.5586-14A>T)
 ClinVar dbSNP gnomAD v4
2g.71669099T>CCA2499216231DYSFc.2961-13T>C (n.2961-13T>C)
c.2178-13T>C (n.2178-13T>C)
c.2286-13T>C (n.2286-13T>C)
c.5430-13T>C (n.5430-13T>C)
c.5547-13T>C (n.5547-13T>C)
c.5433-13T>C (n.5433-13T>C)
c.5496-13T>C (n.5496-13T>C)
c.5544-13T>C (n.5544-13T>C)
c.5526-13T>C (n.5526-13T>C)
c.5454-13T>C (n.5454-13T>C)
c.5481-13T>C (n.5481-13T>C)
c.5484-13T>C (n.5484-13T>C)
c.5523-13T>C (n.5523-13T>C)
c.5493-13T>C (n.5493-13T>C)
n.2315-13T>C
c.5388-13T>C (n.5388-13T>C)
c.5451-13T>C (n.5451-13T>C)
c.5391-13T>C (n.5391-13T>C)
c.5589-13T>C (n.5589-13T>C)
c.5586-13T>C (n.5586-13T>C)
 ClinVar dbSNP
2g.71669100A>GCA2659555455DYSFc.2961-12A>G (n.2961-12A>G)
c.2178-12A>G (n.2178-12A>G)
c.2286-12A>G (n.2286-12A>G)
c.5430-12A>G (n.5430-12A>G)
c.5547-12A>G (n.5547-12A>G)
c.5433-12A>G (n.5433-12A>G)
c.5496-12A>G (n.5496-12A>G)
c.5544-12A>G (n.5544-12A>G)
c.5526-12A>G (n.5526-12A>G)
c.5454-12A>G (n.5454-12A>G)
c.5481-12A>G (n.5481-12A>G)
c.5484-12A>G (n.5484-12A>G)
c.5523-12A>G (n.5523-12A>G)
c.5493-12A>G (n.5493-12A>G)
n.2315-12A>G
c.5388-12A>G (n.5388-12A>G)
c.5451-12A>G (n.5451-12A>G)
c.5391-12A>G (n.5391-12A>G)
c.5589-12A>G (n.5589-12A>G)
c.5586-12A>G (n.5586-12A>G)
 gnomAD v4
2g.71669101C=CA1260152173DYSFc.2961-11C= (n.2961-11C=)
c.2178-11C= (n.2178-11C=)
c.2286-11C= (n.2286-11C=)
c.5430-11C= (n.5430-11C=)
c.5547-11C= (n.5547-11C=)
c.5433-11C= (n.5433-11C=)
c.5496-11C= (n.5496-11C=)
c.5544-11C= (n.5544-11C=)
c.5526-11C= (n.5526-11C=)
c.5454-11C= (n.5454-11C=)
c.5481-11C= (n.5481-11C=)
c.5484-11C= (n.5484-11C=)
c.5523-11C= (n.5523-11C=)
c.5493-11C= (n.5493-11C=)
n.2315-11C=
c.5388-11C= (n.5388-11C=)
c.5451-11C= (n.5451-11C=)
c.5391-11C= (n.5391-11C=)
c.5589-11C= (n.5589-11C=)
c.5586-11C= (n.5586-11C=)
2g.71669101C>TCA1707433DYSFc.2961-11C>T (n.2961-11C>T)
c.2178-11C>T (n.2178-11C>T)
c.2286-11C>T (n.2286-11C>T)
c.5430-11C>T (n.5430-11C>T)
c.5547-11C>T (n.5547-11C>T)
c.5433-11C>T (n.5433-11C>T)
c.5496-11C>T (n.5496-11C>T)
c.5544-11C>T (n.5544-11C>T)
c.5526-11C>T (n.5526-11C>T)
c.5454-11C>T (n.5454-11C>T)
c.5481-11C>T (n.5481-11C>T)
c.5484-11C>T (n.5484-11C>T)
c.5523-11C>T (n.5523-11C>T)
c.5493-11C>T (n.5493-11C>T)
n.2315-11C>T
c.5388-11C>T (n.5388-11C>T)
c.5451-11C>T (n.5451-11C>T)
c.5391-11C>T (n.5391-11C>T)
c.5589-11C>T (n.5589-11C>T)
c.5586-11C>T (n.5586-11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71669102C>ACA2659555456DYSFc.2961-10C>A (n.2961-10C>A)
c.2178-10C>A (n.2178-10C>A)
c.2286-10C>A (n.2286-10C>A)
c.5430-10C>A (n.5430-10C>A)
c.5547-10C>A (n.5547-10C>A)
c.5433-10C>A (n.5433-10C>A)
c.5496-10C>A (n.5496-10C>A)
c.5544-10C>A (n.5544-10C>A)
c.5526-10C>A (n.5526-10C>A)
c.5454-10C>A (n.5454-10C>A)
c.5481-10C>A (n.5481-10C>A)
c.5484-10C>A (n.5484-10C>A)
c.5523-10C>A (n.5523-10C>A)
c.5493-10C>A (n.5493-10C>A)
n.2315-10C>A
c.5388-10C>A (n.5388-10C>A)
c.5451-10C>A (n.5451-10C>A)
c.5391-10C>A (n.5391-10C>A)
c.5589-10C>A (n.5589-10C>A)
c.5586-10C>A (n.5586-10C>A)
 gnomAD v4
2g.71669102C=CA1260152174DYSFc.2961-10C= (n.2961-10C=)
c.2178-10C= (n.2178-10C=)
c.2286-10C= (n.2286-10C=)
c.5430-10C= (n.5430-10C=)
c.5547-10C= (n.5547-10C=)
c.5433-10C= (n.5433-10C=)
c.5496-10C= (n.5496-10C=)
c.5544-10C= (n.5544-10C=)
c.5526-10C= (n.5526-10C=)
c.5454-10C= (n.5454-10C=)
c.5481-10C= (n.5481-10C=)
c.5484-10C= (n.5484-10C=)
c.5523-10C= (n.5523-10C=)
c.5493-10C= (n.5493-10C=)
n.2315-10C=
c.5388-10C= (n.5388-10C=)
c.5451-10C= (n.5451-10C=)
c.5391-10C= (n.5391-10C=)
c.5589-10C= (n.5589-10C=)
c.5586-10C= (n.5586-10C=)
2g.71669102C>GCA2577000806DYSFc.2961-10C>G (n.2961-10C>G)
c.2178-10C>G (n.2178-10C>G)
c.2286-10C>G (n.2286-10C>G)
c.5430-10C>G (n.5430-10C>G)
c.5547-10C>G (n.5547-10C>G)
c.5433-10C>G (n.5433-10C>G)
c.5496-10C>G (n.5496-10C>G)
c.5544-10C>G (n.5544-10C>G)
c.5526-10C>G (n.5526-10C>G)
c.5454-10C>G (n.5454-10C>G)
c.5481-10C>G (n.5481-10C>G)
c.5484-10C>G (n.5484-10C>G)
c.5523-10C>G (n.5523-10C>G)
c.5493-10C>G (n.5493-10C>G)
n.2315-10C>G
c.5388-10C>G (n.5388-10C>G)
c.5451-10C>G (n.5451-10C>G)
c.5391-10C>G (n.5391-10C>G)
c.5589-10C>G (n.5589-10C>G)
c.5586-10C>G (n.5586-10C>G)
 dbSNP gnomAD v4
2g.71669102C>TCA533264578DYSFc.2961-10C>T (n.2961-10C>T)
c.2178-10C>T (n.2178-10C>T)
c.2286-10C>T (n.2286-10C>T)
c.5430-10C>T (n.5430-10C>T)
c.5547-10C>T (n.5547-10C>T)
c.5433-10C>T (n.5433-10C>T)
c.5496-10C>T (n.5496-10C>T)
c.5544-10C>T (n.5544-10C>T)
c.5526-10C>T (n.5526-10C>T)
c.5454-10C>T (n.5454-10C>T)
c.5481-10C>T (n.5481-10C>T)
c.5484-10C>T (n.5484-10C>T)
c.5523-10C>T (n.5523-10C>T)
c.5493-10C>T (n.5493-10C>T)
n.2315-10C>T
c.5388-10C>T (n.5388-10C>T)
c.5451-10C>T (n.5451-10C>T)
c.5391-10C>T (n.5391-10C>T)
c.5589-10C>T (n.5589-10C>T)
c.5586-10C>T (n.5586-10C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71669103T>CCA533264579DYSFc.2961-9T>C (n.2961-9T>C)
c.2178-9T>C (n.2178-9T>C)
c.2286-9T>C (n.2286-9T>C)
c.5430-9T>C (n.5430-9T>C)
c.5547-9T>C (n.5547-9T>C)
c.5433-9T>C (n.5433-9T>C)
c.5496-9T>C (n.5496-9T>C)
c.5544-9T>C (n.5544-9T>C)
c.5526-9T>C (n.5526-9T>C)
c.5454-9T>C (n.5454-9T>C)
c.5481-9T>C (n.5481-9T>C)
c.5484-9T>C (n.5484-9T>C)
c.5523-9T>C (n.5523-9T>C)
c.5493-9T>C (n.5493-9T>C)
n.2315-9T>C
c.5388-9T>C (n.5388-9T>C)
c.5451-9T>C (n.5451-9T>C)
c.5391-9T>C (n.5391-9T>C)
c.5589-9T>C (n.5589-9T>C)
c.5586-9T>C (n.5586-9T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.71669103T=CA1260152175DYSFc.2961-9T= (n.2961-9T=)
c.2178-9T= (n.2178-9T=)
c.2286-9T= (n.2286-9T=)
c.5430-9T= (n.5430-9T=)
c.5547-9T= (n.5547-9T=)
c.5433-9T= (n.5433-9T=)
c.5496-9T= (n.5496-9T=)
c.5544-9T= (n.5544-9T=)
c.5526-9T= (n.5526-9T=)
c.5454-9T= (n.5454-9T=)
c.5481-9T= (n.5481-9T=)
c.5484-9T= (n.5484-9T=)
c.5523-9T= (n.5523-9T=)
c.5493-9T= (n.5493-9T=)
n.2315-9T=
c.5388-9T= (n.5388-9T=)
c.5451-9T= (n.5451-9T=)
c.5391-9T= (n.5391-9T=)
c.5589-9T= (n.5589-9T=)
c.5586-9T= (n.5586-9T=)
2g.71669106C>ACA2659555457DYSFc.2961-6C>A (n.2961-6C>A)
c.2178-6C>A (n.2178-6C>A)
c.2286-6C>A (n.2286-6C>A)
c.5430-6C>A (n.5430-6C>A)
c.5547-6C>A (n.5547-6C>A)
c.5433-6C>A (n.5433-6C>A)
c.5496-6C>A (n.5496-6C>A)
c.5544-6C>A (n.5544-6C>A)
c.5526-6C>A (n.5526-6C>A)
c.5454-6C>A (n.5454-6C>A)
c.5481-6C>A (n.5481-6C>A)
c.5484-6C>A (n.5484-6C>A)
c.5523-6C>A (n.5523-6C>A)
c.5493-6C>A (n.5493-6C>A)
n.2315-6C>A
c.5388-6C>A (n.5388-6C>A)
c.5451-6C>A (n.5451-6C>A)
c.5391-6C>A (n.5391-6C>A)
c.5589-6C>A (n.5589-6C>A)
c.5586-6C>A (n.5586-6C>A)
 gnomAD v4
2g.71669107C>TCA2577000807DYSFc.2961-5C>T (n.2961-5C>T)
c.2178-5C>T (n.2178-5C>T)
c.2286-5C>T (n.2286-5C>T)
c.5430-5C>T (n.5430-5C>T)
c.5547-5C>T (n.5547-5C>T)
c.5433-5C>T (n.5433-5C>T)
c.5496-5C>T (n.5496-5C>T)
c.5544-5C>T (n.5544-5C>T)
c.5526-5C>T (n.5526-5C>T)
c.5454-5C>T (n.5454-5C>T)
c.5481-5C>T (n.5481-5C>T)
c.5484-5C>T (n.5484-5C>T)
c.5523-5C>T (n.5523-5C>T)
c.5493-5C>T (n.5493-5C>T)
n.2315-5C>T
c.5388-5C>T (n.5388-5C>T)
c.5451-5C>T (n.5451-5C>T)
c.5391-5C>T (n.5391-5C>T)
c.5589-5C>T (n.5589-5C>T)
c.5586-5C>T (n.5586-5C>T)
 ClinVar gnomAD v4
2g.71669108C>ACA2580067828DYSFc.2961-4C>A (n.2961-4C>A)
c.2178-4C>A (n.2178-4C>A)
c.2286-4C>A (n.2286-4C>A)
c.5430-4C>A (n.5430-4C>A)
c.5547-4C>A (n.5547-4C>A)
c.5433-4C>A (n.5433-4C>A)
c.5496-4C>A (n.5496-4C>A)
c.5544-4C>A (n.5544-4C>A)
c.5526-4C>A (n.5526-4C>A)
c.5454-4C>A (n.5454-4C>A)
c.5481-4C>A (n.5481-4C>A)
c.5484-4C>A (n.5484-4C>A)
c.5523-4C>A (n.5523-4C>A)
c.5493-4C>A (n.5493-4C>A)
n.2315-4C>A
c.5388-4C>A (n.5388-4C>A)
c.5451-4C>A (n.5451-4C>A)
c.5391-4C>A (n.5391-4C>A)
c.5589-4C>A (n.5589-4C>A)
c.5586-4C>A (n.5586-4C>A)
 ClinVar gnomAD v4
2g.71669108C=CA1260152176DYSFc.2961-4C= (n.2961-4C=)
c.2178-4C= (n.2178-4C=)
c.2286-4C= (n.2286-4C=)
c.5430-4C= (n.5430-4C=)
c.5547-4C= (n.5547-4C=)
c.5433-4C= (n.5433-4C=)
c.5496-4C= (n.5496-4C=)
c.5544-4C= (n.5544-4C=)
c.5526-4C= (n.5526-4C=)
c.5454-4C= (n.5454-4C=)
c.5481-4C= (n.5481-4C=)
c.5484-4C= (n.5484-4C=)
c.5523-4C= (n.5523-4C=)
c.5493-4C= (n.5493-4C=)
n.2315-4C=
c.5388-4C= (n.5388-4C=)
c.5451-4C= (n.5451-4C=)
c.5391-4C= (n.5391-4C=)
c.5589-4C= (n.5589-4C=)
c.5586-4C= (n.5586-4C=)
2g.71669108C>TCA1707434DYSFc.2961-4C>T (n.2961-4C>T)
c.2178-4C>T (n.2178-4C>T)
c.2286-4C>T (n.2286-4C>T)
c.5430-4C>T (n.5430-4C>T)
c.5547-4C>T (n.5547-4C>T)
c.5433-4C>T (n.5433-4C>T)
c.5496-4C>T (n.5496-4C>T)
c.5544-4C>T (n.5544-4C>T)
c.5526-4C>T (n.5526-4C>T)
c.5454-4C>T (n.5454-4C>T)
c.5481-4C>T (n.5481-4C>T)
c.5484-4C>T (n.5484-4C>T)
c.5523-4C>T (n.5523-4C>T)
c.5493-4C>T (n.5493-4C>T)
n.2315-4C>T
c.5388-4C>T (n.5388-4C>T)
c.5451-4C>T (n.5451-4C>T)
c.5391-4C>T (n.5391-4C>T)
c.5589-4C>T (n.5589-4C>T)
c.5586-4C>T (n.5586-4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71669109C>ACA2659555458DYSFc.2961-3C>A (n.2961-3C>A)
c.2178-3C>A (n.2178-3C>A)
c.2286-3C>A (n.2286-3C>A)
c.5430-3C>A (n.5430-3C>A)
c.5547-3C>A (n.5547-3C>A)
c.5433-3C>A (n.5433-3C>A)
c.5496-3C>A (n.5496-3C>A)
c.5544-3C>A (n.5544-3C>A)
c.5526-3C>A (n.5526-3C>A)
c.5454-3C>A (n.5454-3C>A)
c.5481-3C>A (n.5481-3C>A)
c.5484-3C>A (n.5484-3C>A)
c.5523-3C>A (n.5523-3C>A)
c.5493-3C>A (n.5493-3C>A)
n.2315-3C>A
c.5388-3C>A (n.5388-3C>A)
c.5451-3C>A (n.5451-3C>A)
c.5391-3C>A (n.5391-3C>A)
c.5589-3C>A (n.5589-3C>A)
c.5586-3C>A (n.5586-3C>A)
 gnomAD v4
2g.71669109C>TCA2659555459DYSFc.2961-3C>T (n.2961-3C>T)
c.2178-3C>T (n.2178-3C>T)
c.2286-3C>T (n.2286-3C>T)
c.5430-3C>T (n.5430-3C>T)
c.5547-3C>T (n.5547-3C>T)
c.5433-3C>T (n.5433-3C>T)
c.5496-3C>T (n.5496-3C>T)
c.5544-3C>T (n.5544-3C>T)
c.5526-3C>T (n.5526-3C>T)
c.5454-3C>T (n.5454-3C>T)
c.5481-3C>T (n.5481-3C>T)
c.5484-3C>T (n.5484-3C>T)
c.5523-3C>T (n.5523-3C>T)
c.5493-3C>T (n.5493-3C>T)
n.2315-3C>T
c.5388-3C>T (n.5388-3C>T)
c.5451-3C>T (n.5451-3C>T)
c.5391-3C>T (n.5391-3C>T)
c.5589-3C>T (n.5589-3C>T)
c.5586-3C>T (n.5586-3C>T)
 gnomAD v4
2g.71669110A=CA1260152177DYSFc.2961-2A= (n.2961-2A=)
c.2178-2A= (n.2178-2A=)
c.2286-2A= (n.2286-2A=)
c.5430-2A= (n.5430-2A=)
c.5547-2A= (n.5547-2A=)
c.5433-2A= (n.5433-2A=)
c.5496-2A= (n.5496-2A=)
c.5544-2A= (n.5544-2A=)
c.5526-2A= (n.5526-2A=)
c.5454-2A= (n.5454-2A=)
c.5481-2A= (n.5481-2A=)
c.5484-2A= (n.5484-2A=)
c.5523-2A= (n.5523-2A=)
c.5493-2A= (n.5493-2A=)
n.2315-2A=
c.5388-2A= (n.5388-2A=)
c.5451-2A= (n.5451-2A=)
c.5391-2A= (n.5391-2A=)
c.5589-2A= (n.5589-2A=)
c.5586-2A= (n.5586-2A=)
2g.71669110A>CCA347222044DYSFc.2961-2A>C (n.2961-2A>C)
c.2178-2A>C (n.2178-2A>C)
c.2286-2A>C (n.2286-2A>C)
c.5430-2A>C (n.5430-2A>C)
c.5547-2A>C (n.5547-2A>C)
c.5433-2A>C (n.5433-2A>C)
c.5496-2A>C (n.5496-2A>C)
c.5544-2A>C (n.5544-2A>C)
c.5526-2A>C (n.5526-2A>C)
c.5454-2A>C (n.5454-2A>C)
c.5481-2A>C (n.5481-2A>C)
c.5484-2A>C (n.5484-2A>C)
c.5523-2A>C (n.5523-2A>C)
c.5493-2A>C (n.5493-2A>C)
n.2315-2A>C
c.5388-2A>C (n.5388-2A>C)
c.5451-2A>C (n.5451-2A>C)
c.5391-2A>C (n.5391-2A>C)
c.5589-2A>C (n.5589-2A>C)
c.5586-2A>C (n.5586-2A>C)
2g.71669110A>GCA347222046DYSFc.2961-2A>G (n.2961-2A>G)
c.2178-2A>G (n.2178-2A>G)
c.2286-2A>G (n.2286-2A>G)
c.5430-2A>G (n.5430-2A>G)
c.5547-2A>G (n.5547-2A>G)
c.5433-2A>G (n.5433-2A>G)
c.5496-2A>G (n.5496-2A>G)
c.5544-2A>G (n.5544-2A>G)
c.5526-2A>G (n.5526-2A>G)
c.5454-2A>G (n.5454-2A>G)
c.5481-2A>G (n.5481-2A>G)
c.5484-2A>G (n.5484-2A>G)
c.5523-2A>G (n.5523-2A>G)
c.5493-2A>G (n.5493-2A>G)
n.2315-2A>G
c.5388-2A>G (n.5388-2A>G)
c.5451-2A>G (n.5451-2A>G)
c.5391-2A>G (n.5391-2A>G)
c.5589-2A>G (n.5589-2A>G)
c.5586-2A>G (n.5586-2A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71669110A>TCA347222048DYSFc.2961-2A>T (n.2961-2A>T)
c.2178-2A>T (n.2178-2A>T)
c.2286-2A>T (n.2286-2A>T)
c.5430-2A>T (n.5430-2A>T)
c.5547-2A>T (n.5547-2A>T)
c.5433-2A>T (n.5433-2A>T)
c.5496-2A>T (n.5496-2A>T)
c.5544-2A>T (n.5544-2A>T)
c.5526-2A>T (n.5526-2A>T)
c.5454-2A>T (n.5454-2A>T)
c.5481-2A>T (n.5481-2A>T)
c.5484-2A>T (n.5484-2A>T)
c.5523-2A>T (n.5523-2A>T)
c.5493-2A>T (n.5493-2A>T)
n.2315-2A>T
c.5388-2A>T (n.5388-2A>T)
c.5451-2A>T (n.5451-2A>T)
c.5391-2A>T (n.5391-2A>T)
c.5589-2A>T (n.5589-2A>T)
c.5586-2A>T (n.5586-2A>T)
 COSMIC COSMIC
2g.71669110_71669112delinsAGGCA1260152178DYSFc.2961-2_2961delinsAGG
c.2178-2_2178delinsAGG
c.2286-2_2286delinsAGG
c.5430-2_5430delinsAGG
c.5547-2_5547delinsAGG
c.5433-2_5433delinsAGG
c.5496-2_5496delinsAGG
c.5544-2_5544delinsAGG
c.5526-2_5526delinsAGG
c.5454-2_5454delinsAGG
c.5481-2_5481delinsAGG
c.5484-2_5484delinsAGG
c.5523-2_5523delinsAGG
c.5493-2_5493delinsAGG
n.2315-2_2315delinsAGG
c.5388-2_5388delinsAGG
c.5451-2_5451delinsAGG
c.5391-2_5391delinsAGG
c.5589-2_5589delinsAGG
c.5586-2_5586delinsAGG
2g.71669111G>ACA347222049DYSFc.2961-1G>A (n.2961-1G>A)
c.2178-1G>A (n.2178-1G>A)
c.2286-1G>A (n.2286-1G>A)
c.5430-1G>A (n.5430-1G>A)
c.5547-1G>A (n.5547-1G>A)
c.5433-1G>A (n.5433-1G>A)
c.5496-1G>A (n.5496-1G>A)
c.5544-1G>A (n.5544-1G>A)
c.5526-1G>A (n.5526-1G>A)
c.5454-1G>A (n.5454-1G>A)
c.5481-1G>A (n.5481-1G>A)
c.5484-1G>A (n.5484-1G>A)
c.5523-1G>A (n.5523-1G>A)
c.5493-1G>A (n.5493-1G>A)
n.2315-1G>A
c.5388-1G>A (n.5388-1G>A)
c.5451-1G>A (n.5451-1G>A)
c.5391-1G>A (n.5391-1G>A)
c.5589-1G>A (n.5589-1G>A)
c.5586-1G>A (n.5586-1G>A)
2g.71669111G>CCA347222051DYSFc.2961-1G>C (n.2961-1G>C)
c.2178-1G>C (n.2178-1G>C)
c.2286-1G>C (n.2286-1G>C)
c.5430-1G>C (n.5430-1G>C)
c.5547-1G>C (n.5547-1G>C)
c.5433-1G>C (n.5433-1G>C)
c.5496-1G>C (n.5496-1G>C)
c.5544-1G>C (n.5544-1G>C)
c.5526-1G>C (n.5526-1G>C)
c.5454-1G>C (n.5454-1G>C)
c.5481-1G>C (n.5481-1G>C)
c.5484-1G>C (n.5484-1G>C)
c.5523-1G>C (n.5523-1G>C)
c.5493-1G>C (n.5493-1G>C)
n.2315-1G>C
c.5388-1G>C (n.5388-1G>C)
c.5451-1G>C (n.5451-1G>C)
c.5391-1G>C (n.5391-1G>C)
c.5589-1G>C (n.5589-1G>C)
c.5586-1G>C (n.5586-1G>C)
 ClinVar dbSNP
2g.71669111G=CA1260152179DYSFc.2961-1G= (n.2961-1G=)
c.2178-1G= (n.2178-1G=)
c.2286-1G= (n.2286-1G=)
c.5430-1G= (n.5430-1G=)
c.5547-1G= (n.5547-1G=)
c.5433-1G= (n.5433-1G=)
c.5496-1G= (n.5496-1G=)
c.5544-1G= (n.5544-1G=)
c.5526-1G= (n.5526-1G=)
c.5454-1G= (n.5454-1G=)
c.5481-1G= (n.5481-1G=)
c.5484-1G= (n.5484-1G=)
c.5523-1G= (n.5523-1G=)
c.5493-1G= (n.5493-1G=)
n.2315-1G=
c.5388-1G= (n.5388-1G=)
c.5451-1G= (n.5451-1G=)
c.5391-1G= (n.5391-1G=)
c.5589-1G= (n.5589-1G=)
c.5586-1G= (n.5586-1G=)
2g.71669111G>TCA347222053DYSFc.2961-1G>T (n.2961-1G>T)
c.2178-1G>T (n.2178-1G>T)
c.2286-1G>T (n.2286-1G>T)
c.5430-1G>T (n.5430-1G>T)
c.5547-1G>T (n.5547-1G>T)
c.5433-1G>T (n.5433-1G>T)
c.5496-1G>T (n.5496-1G>T)
c.5544-1G>T (n.5544-1G>T)
c.5526-1G>T (n.5526-1G>T)
c.5454-1G>T (n.5454-1G>T)
c.5481-1G>T (n.5481-1G>T)
c.5484-1G>T (n.5484-1G>T)
c.5523-1G>T (n.5523-1G>T)
c.5493-1G>T (n.5493-1G>T)
n.2315-1G>T
c.5388-1G>T (n.5388-1G>T)
c.5451-1G>T (n.5451-1G>T)
c.5391-1G>T (n.5391-1G>T)
c.5589-1G>T (n.5589-1G>T)
c.5586-1G>T (n.5586-1G>T)
2g.71669111_71669112delinsACA916564169DYSFc.2961-1_2961delinsA
c.2178-1_2178delinsA
c.2286-1_2286delinsA
c.5430-1_5430delinsA
c.5547-1_5547delinsA
c.5433-1_5433delinsA
c.5496-1_5496delinsA
c.5544-1_5544delinsA
c.5526-1_5526delinsA
c.5454-1_5454delinsA
c.5481-1_5481delinsA
c.5484-1_5484delinsA
c.5523-1_5523delinsA
c.5493-1_5493delinsA
n.2315-1_2315delinsA
c.5388-1_5388delinsA
c.5451-1_5451delinsA
c.5391-1_5391delinsA
c.5589-1_5589delinsA
c.5586-1_5586delinsA
 dbSNP
2g.71669112G>ACA426704303DYSFc.2961G>A (p.Arg987=)
c.2178G>A (p.Arg726=)
c.2286G>A (p.Arg762=)
c.5430G>A (p.Arg1810=)
c.5547G>A (p.Arg1849=)
c.5433G>A (p.Arg1811=)
c.5496G>A (p.Arg1832=)
c.5544G>A (p.Arg1848=)
c.5526G>A (p.Arg1842=)
c.5454G>A (p.Arg1818=)
c.5481G>A (p.Arg1827=)
c.5484G>A (p.Arg1828=)
c.5523G>A (p.Arg1841=)
c.5493G>A (p.Arg1831=)
n.2315G>A
c.5388G>A (p.Arg1796=)
c.5451G>A (p.Arg1817=)
c.5391G>A (p.Arg1797=)
c.5589G>A (p.Arg1863=)
c.5586G>A (p.Arg1862=)
 gnomAD v4
2g.71669112G>CCA347222055DYSFc.2961G>C (p.Arg987Ser)
c.2178G>C (p.Arg726Ser)
c.2286G>C (p.Arg762Ser)
c.5430G>C (p.Arg1810Ser)
c.5547G>C (p.Arg1849Ser)
c.5433G>C (p.Arg1811Ser)
c.5496G>C (p.Arg1832Ser)
c.5544G>C (p.Arg1848Ser)
c.5526G>C (p.Arg1842Ser)
c.5454G>C (p.Arg1818Ser)
c.5481G>C (p.Arg1827Ser)
c.5484G>C (p.Arg1828Ser)
c.5523G>C (p.Arg1841Ser)
c.5493G>C (p.Arg1831Ser)
n.2315G>C
c.5388G>C (p.Arg1796Ser)
c.5451G>C (p.Arg1817Ser)
c.5391G>C (p.Arg1797Ser)
c.5589G>C (p.Arg1863Ser)
c.5586G>C (p.Arg1862Ser)
2g.71669112G=CA1260152180DYSFc.2961G= (p.Arg987=)
c.2178G= (p.Arg726=)
c.2286G= (p.Arg762=)
c.5430G= (p.Arg1810=)
c.5547G= (p.Arg1849=)
c.5433G= (p.Arg1811=)
c.5496G= (p.Arg1832=)
c.5544G= (p.Arg1848=)
c.5526G= (p.Arg1842=)
c.5454G= (p.Arg1818=)
c.5481G= (p.Arg1827=)
c.5484G= (p.Arg1828=)
c.5523G= (p.Arg1841=)
c.5493G= (p.Arg1831=)
n.2315G=
c.5388G= (p.Arg1796=)
c.5451G= (p.Arg1817=)
c.5391G= (p.Arg1797=)
c.5589G= (p.Arg1863=)
c.5586G= (p.Arg1862=)
2g.71669112G>TCA347222056DYSFc.2961G>T (p.Arg987Ser)
c.2178G>T (p.Arg726Ser)
c.2286G>T (p.Arg762Ser)
c.5430G>T (p.Arg1810Ser)
c.5547G>T (p.Arg1849Ser)
c.5433G>T (p.Arg1811Ser)
c.5496G>T (p.Arg1832Ser)
c.5544G>T (p.Arg1848Ser)
c.5526G>T (p.Arg1842Ser)
c.5454G>T (p.Arg1818Ser)
c.5481G>T (p.Arg1827Ser)
c.5484G>T (p.Arg1828Ser)
c.5523G>T (p.Arg1841Ser)
c.5493G>T (p.Arg1831Ser)
n.2315G>T
c.5388G>T (p.Arg1796Ser)
c.5451G>T (p.Arg1817Ser)
c.5391G>T (p.Arg1797Ser)
c.5589G>T (p.Arg1863Ser)
c.5586G>T (p.Arg1862Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.71669113T>ACA347222058DYSFc.2962T>A (p.Phe988Ile)
c.2179T>A (p.Phe727Ile)
c.2287T>A (p.Phe763Ile)
c.5431T>A (p.Phe1811Ile)
c.5548T>A (p.Phe1850Ile)
c.5434T>A (p.Phe1812Ile)
c.5497T>A (p.Phe1833Ile)
c.5545T>A (p.Phe1849Ile)
c.5527T>A (p.Phe1843Ile)
c.5455T>A (p.Phe1819Ile)
c.5482T>A (p.Phe1828Ile)
c.5485T>A (p.Phe1829Ile)
c.5524T>A (p.Phe1842Ile)
c.5494T>A (p.Phe1832Ile)
n.2316T>A
c.5389T>A (p.Phe1797Ile)
c.5452T>A (p.Phe1818Ile)
c.5392T>A (p.Phe1798Ile)
c.5590T>A (p.Phe1864Ile)
c.5587T>A (p.Phe1863Ile)
 gnomAD v4
2g.71669113T>CCA347222061DYSFc.2962T>C (p.Phe988Leu)
c.2179T>C (p.Phe727Leu)
c.2287T>C (p.Phe763Leu)
c.5431T>C (p.Phe1811Leu)
c.5548T>C (p.Phe1850Leu)
c.5434T>C (p.Phe1812Leu)
c.5497T>C (p.Phe1833Leu)
c.5545T>C (p.Phe1849Leu)
c.5527T>C (p.Phe1843Leu)
c.5455T>C (p.Phe1819Leu)
c.5482T>C (p.Phe1828Leu)
c.5485T>C (p.Phe1829Leu)
c.5524T>C (p.Phe1842Leu)
c.5494T>C (p.Phe1832Leu)
n.2316T>C
c.5389T>C (p.Phe1797Leu)
c.5452T>C (p.Phe1818Leu)
c.5392T>C (p.Phe1798Leu)
c.5590T>C (p.Phe1864Leu)
c.5587T>C (p.Phe1863Leu)
2g.71669113T>GCA347222063DYSFc.2962T>G (p.Phe988Val)
c.2179T>G (p.Phe727Val)
c.2287T>G (p.Phe763Val)
c.5431T>G (p.Phe1811Val)
c.5548T>G (p.Phe1850Val)
c.5434T>G (p.Phe1812Val)
c.5497T>G (p.Phe1833Val)
c.5545T>G (p.Phe1849Val)
c.5527T>G (p.Phe1843Val)
c.5455T>G (p.Phe1819Val)
c.5482T>G (p.Phe1828Val)
c.5485T>G (p.Phe1829Val)
c.5524T>G (p.Phe1842Val)
c.5494T>G (p.Phe1832Val)
n.2316T>G
c.5389T>G (p.Phe1797Val)
c.5452T>G (p.Phe1818Val)
c.5392T>G (p.Phe1798Val)
c.5590T>G (p.Phe1864Val)
c.5587T>G (p.Phe1863Val)
2g.71669117delCA2659555460DYSFc.2966del (p.Phe989SerfsTer12)
c.2183del (p.Phe728SerfsTer12)
c.2291del (p.Phe764SerfsTer12)
c.5435del (p.Phe1812SerfsTer12)
c.5552del (p.Phe1851SerfsTer12)
c.5438del (p.Phe1813SerfsTer12)
c.5501del (p.Phe1834SerfsTer12)
c.5549del (p.Phe1850SerfsTer12)
c.5531del (p.Phe1844SerfsTer12)
c.5459del (p.Phe1820SerfsTer12)
c.5486del (p.Phe1829SerfsTer12)
c.5489del (p.Phe1830SerfsTer12)
c.5528del (p.Phe1843SerfsTer12)
c.5498del (p.Phe1833SerfsTer12)
n.2320del
c.5393del (p.Phe1798SerfsTer12)
c.5456del (p.Phe1819SerfsTer12)
c.5396del (p.Phe1799SerfsTer12)
c.5594del (p.Phe1865SerfsTer12)
c.5591del (p.Phe1864SerfsTer12)
 gnomAD v4
2g.71669114T>ACA347222065DYSFc.2963T>A (p.Phe988Tyr)
c.2180T>A (p.Phe727Tyr)
c.2288T>A (p.Phe763Tyr)
c.5432T>A (p.Phe1811Tyr)
c.5549T>A (p.Phe1850Tyr)
c.5435T>A (p.Phe1812Tyr)
c.5498T>A (p.Phe1833Tyr)
c.5546T>A (p.Phe1849Tyr)
c.5528T>A (p.Phe1843Tyr)
c.5456T>A (p.Phe1819Tyr)
c.5483T>A (p.Phe1828Tyr)
c.5486T>A (p.Phe1829Tyr)
c.5525T>A (p.Phe1842Tyr)
c.5495T>A (p.Phe1832Tyr)
n.2317T>A
c.5390T>A (p.Phe1797Tyr)
c.5453T>A (p.Phe1818Tyr)
c.5393T>A (p.Phe1798Tyr)
c.5591T>A (p.Phe1864Tyr)
c.5588T>A (p.Phe1863Tyr)
2g.71669114T>CCA347222067DYSFc.2963T>C (p.Phe988Ser)
c.2180T>C (p.Phe727Ser)
c.2288T>C (p.Phe763Ser)
c.5432T>C (p.Phe1811Ser)
c.5549T>C (p.Phe1850Ser)
c.5435T>C (p.Phe1812Ser)
c.5498T>C (p.Phe1833Ser)
c.5546T>C (p.Phe1849Ser)
c.5528T>C (p.Phe1843Ser)
c.5456T>C (p.Phe1819Ser)
c.5483T>C (p.Phe1828Ser)
c.5486T>C (p.Phe1829Ser)
c.5525T>C (p.Phe1842Ser)
c.5495T>C (p.Phe1832Ser)
n.2317T>C
c.5390T>C (p.Phe1797Ser)
c.5453T>C (p.Phe1818Ser)
c.5393T>C (p.Phe1798Ser)
c.5591T>C (p.Phe1864Ser)
c.5588T>C (p.Phe1863Ser)
2g.71669114T>GCA347222069DYSFc.2963T>G (p.Phe988Cys)
c.2180T>G (p.Phe727Cys)
c.2288T>G (p.Phe763Cys)
c.5432T>G (p.Phe1811Cys)
c.5549T>G (p.Phe1850Cys)
c.5435T>G (p.Phe1812Cys)
c.5498T>G (p.Phe1833Cys)
c.5546T>G (p.Phe1849Cys)
c.5528T>G (p.Phe1843Cys)
c.5456T>G (p.Phe1819Cys)
c.5483T>G (p.Phe1828Cys)
c.5486T>G (p.Phe1829Cys)
c.5525T>G (p.Phe1842Cys)
c.5495T>G (p.Phe1832Cys)
n.2317T>G
c.5390T>G (p.Phe1797Cys)
c.5453T>G (p.Phe1818Cys)
c.5393T>G (p.Phe1798Cys)
c.5591T>G (p.Phe1864Cys)
c.5588T>G (p.Phe1863Cys)
2g.71669115T>ACA347222071DYSFc.2964T>A (p.Phe988Leu)
c.2181T>A (p.Phe727Leu)
c.2289T>A (p.Phe763Leu)
c.5433T>A (p.Phe1811Leu)
c.5550T>A (p.Phe1850Leu)
c.5436T>A (p.Phe1812Leu)
c.5499T>A (p.Phe1833Leu)
c.5547T>A (p.Phe1849Leu)
c.5529T>A (p.Phe1843Leu)
c.5457T>A (p.Phe1819Leu)
c.5484T>A (p.Phe1828Leu)
c.5487T>A (p.Phe1829Leu)
c.5526T>A (p.Phe1842Leu)
c.5496T>A (p.Phe1832Leu)
n.2318T>A
c.5391T>A (p.Phe1797Leu)
c.5454T>A (p.Phe1818Leu)
c.5394T>A (p.Phe1798Leu)
c.5592T>A (p.Phe1864Leu)
c.5589T>A (p.Phe1863Leu)
2g.71669115T>CCA426704305DYSFc.2964T>C (p.Phe988=)
c.2181T>C (p.Phe727=)
c.2289T>C (p.Phe763=)
c.5433T>C (p.Phe1811=)
c.5550T>C (p.Phe1850=)
c.5436T>C (p.Phe1812=)
c.5499T>C (p.Phe1833=)
c.5547T>C (p.Phe1849=)
c.5529T>C (p.Phe1843=)
c.5457T>C (p.Phe1819=)
c.5484T>C (p.Phe1828=)
c.5487T>C (p.Phe1829=)
c.5526T>C (p.Phe1842=)
c.5496T>C (p.Phe1832=)
n.2318T>C
c.5391T>C (p.Phe1797=)
c.5454T>C (p.Phe1818=)
c.5394T>C (p.Phe1798=)
c.5592T>C (p.Phe1864=)
c.5589T>C (p.Phe1863=)
 gnomAD v4
2g.71669115T>GCA347222072DYSFc.2964T>G (p.Phe988Leu)
c.2181T>G (p.Phe727Leu)
c.2289T>G (p.Phe763Leu)
c.5433T>G (p.Phe1811Leu)
c.5550T>G (p.Phe1850Leu)
c.5436T>G (p.Phe1812Leu)
c.5499T>G (p.Phe1833Leu)
c.5547T>G (p.Phe1849Leu)
c.5529T>G (p.Phe1843Leu)
c.5457T>G (p.Phe1819Leu)
c.5484T>G (p.Phe1828Leu)
c.5487T>G (p.Phe1829Leu)
c.5526T>G (p.Phe1842Leu)
c.5496T>G (p.Phe1832Leu)
n.2318T>G
c.5391T>G (p.Phe1797Leu)
c.5454T>G (p.Phe1818Leu)
c.5394T>G (p.Phe1798Leu)
c.5592T>G (p.Phe1864Leu)
c.5589T>G (p.Phe1863Leu)
 gnomAD v4
2g.71669116T>ACA347222074DYSFc.2965T>A (p.Phe989Ile)
c.2182T>A (p.Phe728Ile)
c.2290T>A (p.Phe764Ile)
c.5434T>A (p.Phe1812Ile)
c.5551T>A (p.Phe1851Ile)
c.5437T>A (p.Phe1813Ile)
c.5500T>A (p.Phe1834Ile)
c.5548T>A (p.Phe1850Ile)
c.5530T>A (p.Phe1844Ile)
c.5458T>A (p.Phe1820Ile)
c.5485T>A (p.Phe1829Ile)
c.5488T>A (p.Phe1830Ile)
c.5527T>A (p.Phe1843Ile)
c.5497T>A (p.Phe1833Ile)
n.2319T>A
c.5392T>A (p.Phe1798Ile)
c.5455T>A (p.Phe1819Ile)
c.5395T>A (p.Phe1799Ile)
c.5593T>A (p.Phe1865Ile)
c.5590T>A (p.Phe1864Ile)
2g.71669116T>CCA347222076DYSFc.2965T>C (p.Phe989Leu)
c.2182T>C (p.Phe728Leu)
c.2290T>C (p.Phe764Leu)
c.5434T>C (p.Phe1812Leu)
c.5551T>C (p.Phe1851Leu)
c.5437T>C (p.Phe1813Leu)
c.5500T>C (p.Phe1834Leu)
c.5548T>C (p.Phe1850Leu)
c.5530T>C (p.Phe1844Leu)
c.5458T>C (p.Phe1820Leu)
c.5485T>C (p.Phe1829Leu)
c.5488T>C (p.Phe1830Leu)
c.5527T>C (p.Phe1843Leu)
c.5497T>C (p.Phe1833Leu)
n.2319T>C
c.5392T>C (p.Phe1798Leu)
c.5455T>C (p.Phe1819Leu)
c.5395T>C (p.Phe1799Leu)
c.5593T>C (p.Phe1865Leu)
c.5590T>C (p.Phe1864Leu)
2g.71669116T>GCA347222077DYSFc.2965T>G (p.Phe989Val)
c.2182T>G (p.Phe728Val)
c.2290T>G (p.Phe764Val)
c.5434T>G (p.Phe1812Val)
c.5551T>G (p.Phe1851Val)
c.5437T>G (p.Phe1813Val)
c.5500T>G (p.Phe1834Val)
c.5548T>G (p.Phe1850Val)
c.5530T>G (p.Phe1844Val)
c.5458T>G (p.Phe1820Val)
c.5485T>G (p.Phe1829Val)
c.5488T>G (p.Phe1830Val)
c.5527T>G (p.Phe1843Val)
c.5497T>G (p.Phe1833Val)
n.2319T>G
c.5392T>G (p.Phe1798Val)
c.5455T>G (p.Phe1819Val)
c.5395T>G (p.Phe1799Val)
c.5593T>G (p.Phe1865Val)
c.5590T>G (p.Phe1864Val)
2g.71669117T>ACA347222082DYSFc.2966T>A (p.Phe989Tyr)
c.2183T>A (p.Phe728Tyr)
c.2291T>A (p.Phe764Tyr)
c.5435T>A (p.Phe1812Tyr)
c.5552T>A (p.Phe1851Tyr)
c.5438T>A (p.Phe1813Tyr)
c.5501T>A (p.Phe1834Tyr)
c.5549T>A (p.Phe1850Tyr)
c.5531T>A (p.Phe1844Tyr)
c.5459T>A (p.Phe1820Tyr)
c.5486T>A (p.Phe1829Tyr)
c.5489T>A (p.Phe1830Tyr)
c.5528T>A (p.Phe1843Tyr)
c.5498T>A (p.Phe1833Tyr)
n.2320T>A
c.5393T>A (p.Phe1798Tyr)
c.5456T>A (p.Phe1819Tyr)
c.5396T>A (p.Phe1799Tyr)
c.5594T>A (p.Phe1865Tyr)
c.5591T>A (p.Phe1864Tyr)
2g.71669117T>CCA347222084DYSFc.2966T>C (p.Phe989Ser)
c.2183T>C (p.Phe728Ser)
c.2291T>C (p.Phe764Ser)
c.5435T>C (p.Phe1812Ser)
c.5552T>C (p.Phe1851Ser)
c.5438T>C (p.Phe1813Ser)
c.5501T>C (p.Phe1834Ser)
c.5549T>C (p.Phe1850Ser)
c.5531T>C (p.Phe1844Ser)
c.5459T>C (p.Phe1820Ser)
c.5486T>C (p.Phe1829Ser)
c.5489T>C (p.Phe1830Ser)
c.5528T>C (p.Phe1843Ser)
c.5498T>C (p.Phe1833Ser)
n.2320T>C
c.5393T>C (p.Phe1798Ser)
c.5456T>C (p.Phe1819Ser)
c.5396T>C (p.Phe1799Ser)
c.5594T>C (p.Phe1865Ser)
c.5591T>C (p.Phe1864Ser)
 gnomAD v4
2g.71669117T>GCA347222080DYSFc.2966T>G (p.Phe989Cys)
c.2183T>G (p.Phe728Cys)
c.2291T>G (p.Phe764Cys)
c.5435T>G (p.Phe1812Cys)
c.5552T>G (p.Phe1851Cys)
c.5438T>G (p.Phe1813Cys)
c.5501T>G (p.Phe1834Cys)
c.5549T>G (p.Phe1850Cys)
c.5531T>G (p.Phe1844Cys)
c.5459T>G (p.Phe1820Cys)
c.5486T>G (p.Phe1829Cys)
c.5489T>G (p.Phe1830Cys)
c.5528T>G (p.Phe1843Cys)
c.5498T>G (p.Phe1833Cys)
n.2320T>G
c.5393T>G (p.Phe1798Cys)
c.5456T>G (p.Phe1819Cys)
c.5396T>G (p.Phe1799Cys)
c.5594T>G (p.Phe1865Cys)
c.5591T>G (p.Phe1864Cys)
2g.71669118C>ACA347222087DYSFc.2967C>A (p.Phe989Leu)
c.2184C>A (p.Phe728Leu)
c.2292C>A (p.Phe764Leu)
c.5436C>A (p.Phe1812Leu)
c.5553C>A (p.Phe1851Leu)
c.5439C>A (p.Phe1813Leu)
c.5502C>A (p.Phe1834Leu)
c.5550C>A (p.Phe1850Leu)
c.5532C>A (p.Phe1844Leu)
c.5460C>A (p.Phe1820Leu)
c.5487C>A (p.Phe1829Leu)
c.5490C>A (p.Phe1830Leu)
c.5529C>A (p.Phe1843Leu)
c.5499C>A (p.Phe1833Leu)
n.2321C>A
c.5394C>A (p.Phe1798Leu)
c.5457C>A (p.Phe1819Leu)
c.5397C>A (p.Phe1799Leu)
c.5595C>A (p.Phe1865Leu)
c.5592C>A (p.Phe1864Leu)
2g.71669118C>GCA347222088DYSFc.2967C>G (p.Phe989Leu)
c.2184C>G (p.Phe728Leu)
c.2292C>G (p.Phe764Leu)
c.5436C>G (p.Phe1812Leu)
c.5553C>G (p.Phe1851Leu)
c.5439C>G (p.Phe1813Leu)
c.5502C>G (p.Phe1834Leu)
c.5550C>G (p.Phe1850Leu)
c.5532C>G (p.Phe1844Leu)
c.5460C>G (p.Phe1820Leu)
c.5487C>G (p.Phe1829Leu)
c.5490C>G (p.Phe1830Leu)
c.5529C>G (p.Phe1843Leu)
c.5499C>G (p.Phe1833Leu)
n.2321C>G
c.5394C>G (p.Phe1798Leu)
c.5457C>G (p.Phe1819Leu)
c.5397C>G (p.Phe1799Leu)
c.5595C>G (p.Phe1865Leu)
c.5592C>G (p.Phe1864Leu)
2g.71669118C>TCA426704309DYSFc.2967C>T (p.Phe989=)
c.2184C>T (p.Phe728=)
c.2292C>T (p.Phe764=)
c.5436C>T (p.Phe1812=)
c.5553C>T (p.Phe1851=)
c.5439C>T (p.Phe1813=)
c.5502C>T (p.Phe1834=)
c.5550C>T (p.Phe1850=)
c.5532C>T (p.Phe1844=)
c.5460C>T (p.Phe1820=)
c.5487C>T (p.Phe1829=)
c.5490C>T (p.Phe1830=)
c.5529C>T (p.Phe1843=)
c.5499C>T (p.Phe1833=)
n.2321C>T
c.5394C>T (p.Phe1798=)
c.5457C>T (p.Phe1819=)
c.5397C>T (p.Phe1799=)
c.5595C>T (p.Phe1865=)
c.5592C>T (p.Phe1864=)
2g.71669119C>ACA347222090DYSFc.2968C>A (p.Leu990Met)
c.2185C>A (p.Leu729Met)
c.2293C>A (p.Leu765Met)
c.5437C>A (p.Leu1813Met)
c.5554C>A (p.Leu1852Met)
c.5440C>A (p.Leu1814Met)
c.5503C>A (p.Leu1835Met)
c.5551C>A (p.Leu1851Met)
c.5533C>A (p.Leu1845Met)
c.5461C>A (p.Leu1821Met)
c.5488C>A (p.Leu1830Met)
c.5491C>A (p.Leu1831Met)
c.5530C>A (p.Leu1844Met)
c.5500C>A (p.Leu1834Met)
n.2322C>A
c.5395C>A (p.Leu1799Met)
c.5458C>A (p.Leu1820Met)
c.5398C>A (p.Leu1800Met)
c.5596C>A (p.Leu1866Met)
c.5593C>A (p.Leu1865Met)
 gnomAD v4
2g.71669119C>GCA347222092DYSFc.2968C>G (p.Leu990Val)
c.2185C>G (p.Leu729Val)
c.2293C>G (p.Leu765Val)
c.5437C>G (p.Leu1813Val)
c.5554C>G (p.Leu1852Val)
c.5440C>G (p.Leu1814Val)
c.5503C>G (p.Leu1835Val)
c.5551C>G (p.Leu1851Val)
c.5533C>G (p.Leu1845Val)
c.5461C>G (p.Leu1821Val)
c.5488C>G (p.Leu1830Val)
c.5491C>G (p.Leu1831Val)
c.5530C>G (p.Leu1844Val)
c.5500C>G (p.Leu1834Val)
n.2322C>G
c.5395C>G (p.Leu1799Val)
c.5458C>G (p.Leu1820Val)
c.5398C>G (p.Leu1800Val)
c.5596C>G (p.Leu1866Val)
c.5593C>G (p.Leu1865Val)
2g.71669119C>TCA426704310DYSFc.2968C>T (p.Leu990=)
c.2185C>T (p.Leu729=)
c.2293C>T (p.Leu765=)
c.5437C>T (p.Leu1813=)
c.5554C>T (p.Leu1852=)
c.5440C>T (p.Leu1814=)
c.5503C>T (p.Leu1835=)
c.5551C>T (p.Leu1851=)
c.5533C>T (p.Leu1845=)
c.5461C>T (p.Leu1821=)
c.5488C>T (p.Leu1830=)
c.5491C>T (p.Leu1831=)
c.5530C>T (p.Leu1844=)
c.5500C>T (p.Leu1834=)
n.2322C>T
c.5395C>T (p.Leu1799=)
c.5458C>T (p.Leu1820=)
c.5398C>T (p.Leu1800=)
c.5596C>T (p.Leu1866=)
c.5593C>T (p.Leu1865=)
2g.71669120T>ACA347222094DYSFc.2969T>A (p.Leu990Gln)
c.2186T>A (p.Leu729Gln)
c.2294T>A (p.Leu765Gln)
c.5438T>A (p.Leu1813Gln)
c.5555T>A (p.Leu1852Gln)
c.5441T>A (p.Leu1814Gln)
c.5504T>A (p.Leu1835Gln)
c.5552T>A (p.Leu1851Gln)
c.5534T>A (p.Leu1845Gln)
c.5462T>A (p.Leu1821Gln)
c.5489T>A (p.Leu1830Gln)
c.5492T>A (p.Leu1831Gln)
c.5531T>A (p.Leu1844Gln)
c.5501T>A (p.Leu1834Gln)
n.2323T>A
c.5396T>A (p.Leu1799Gln)
c.5459T>A (p.Leu1820Gln)
c.5399T>A (p.Leu1800Gln)
c.5597T>A (p.Leu1866Gln)
c.5594T>A (p.Leu1865Gln)
2g.71669120T>CCA347222095DYSFc.2969T>C (p.Leu990Pro)
c.2186T>C (p.Leu729Pro)
c.2294T>C (p.Leu765Pro)
c.5438T>C (p.Leu1813Pro)
c.5555T>C (p.Leu1852Pro)
c.5441T>C (p.Leu1814Pro)
c.5504T>C (p.Leu1835Pro)
c.5552T>C (p.Leu1851Pro)
c.5534T>C (p.Leu1845Pro)
c.5462T>C (p.Leu1821Pro)
c.5489T>C (p.Leu1830Pro)
c.5492T>C (p.Leu1831Pro)
c.5531T>C (p.Leu1844Pro)
c.5501T>C (p.Leu1834Pro)
n.2323T>C
c.5396T>C (p.Leu1799Pro)
c.5459T>C (p.Leu1820Pro)
c.5399T>C (p.Leu1800Pro)
c.5597T>C (p.Leu1866Pro)
c.5594T>C (p.Leu1865Pro)
 gnomAD v4
2g.71669120T>GCA347222097DYSFc.2969T>G (p.Leu990Arg)
c.2186T>G (p.Leu729Arg)
c.2294T>G (p.Leu765Arg)
c.5438T>G (p.Leu1813Arg)
c.5555T>G (p.Leu1852Arg)
c.5441T>G (p.Leu1814Arg)
c.5504T>G (p.Leu1835Arg)
c.5552T>G (p.Leu1851Arg)
c.5534T>G (p.Leu1845Arg)
c.5462T>G (p.Leu1821Arg)
c.5489T>G (p.Leu1830Arg)
c.5492T>G (p.Leu1831Arg)
c.5531T>G (p.Leu1844Arg)
c.5501T>G (p.Leu1834Arg)
n.2323T>G
c.5396T>G (p.Leu1799Arg)
c.5459T>G (p.Leu1820Arg)
c.5399T>G (p.Leu1800Arg)
c.5597T>G (p.Leu1866Arg)
c.5594T>G (p.Leu1865Arg)
2g.71669121G>ACA426704312DYSFc.2970G>A (p.Leu990=)
c.2187G>A (p.Leu729=)
c.2295G>A (p.Leu765=)
c.5439G>A (p.Leu1813=)
c.5556G>A (p.Leu1852=)
c.5442G>A (p.Leu1814=)
c.5505G>A (p.Leu1835=)
c.5553G>A (p.Leu1851=)
c.5535G>A (p.Leu1845=)
c.5463G>A (p.Leu1821=)
c.5490G>A (p.Leu1830=)
c.5493G>A (p.Leu1831=)
c.5532G>A (p.Leu1844=)
c.5502G>A (p.Leu1834=)
n.2324G>A
c.5397G>A (p.Leu1799=)
c.5460G>A (p.Leu1820=)
c.5400G>A (p.Leu1800=)
c.5598G>A (p.Leu1866=)
c.5595G>A (p.Leu1865=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71669121G>CCA426704313DYSFc.2970G>C (p.Leu990=)
c.2187G>C (p.Leu729=)
c.2295G>C (p.Leu765=)
c.5439G>C (p.Leu1813=)
c.5556G>C (p.Leu1852=)
c.5442G>C (p.Leu1814=)
c.5505G>C (p.Leu1835=)
c.5553G>C (p.Leu1851=)
c.5535G>C (p.Leu1845=)
c.5463G>C (p.Leu1821=)
c.5490G>C (p.Leu1830=)
c.5493G>C (p.Leu1831=)
c.5532G>C (p.Leu1844=)
c.5502G>C (p.Leu1834=)
n.2324G>C
c.5397G>C (p.Leu1799=)
c.5460G>C (p.Leu1820=)
c.5400G>C (p.Leu1800=)
c.5598G>C (p.Leu1866=)
c.5595G>C (p.Leu1865=)
2g.71669121G=CA1260152181DYSFc.2970G= (p.Leu990=)
c.2187G= (p.Leu729=)
c.2295G= (p.Leu765=)
c.5439G= (p.Leu1813=)
c.5556G= (p.Leu1852=)
c.5442G= (p.Leu1814=)
c.5505G= (p.Leu1835=)
c.5553G= (p.Leu1851=)
c.5535G= (p.Leu1845=)
c.5463G= (p.Leu1821=)
c.5490G= (p.Leu1830=)
c.5493G= (p.Leu1831=)
c.5532G= (p.Leu1844=)
c.5502G= (p.Leu1834=)
n.2324G=
c.5397G= (p.Leu1799=)
c.5460G= (p.Leu1820=)
c.5400G= (p.Leu1800=)
c.5598G= (p.Leu1866=)
c.5595G= (p.Leu1865=)
2g.71669121G>TCA426704315DYSFc.2970G>T (p.Leu990=)
c.2187G>T (p.Leu729=)
c.2295G>T (p.Leu765=)
c.5439G>T (p.Leu1813=)
c.5556G>T (p.Leu1852=)
c.5442G>T (p.Leu1814=)
c.5505G>T (p.Leu1835=)
c.5553G>T (p.Leu1851=)
c.5535G>T (p.Leu1845=)
c.5463G>T (p.Leu1821=)
c.5490G>T (p.Leu1830=)
c.5493G>T (p.Leu1831=)
c.5532G>T (p.Leu1844=)
c.5502G>T (p.Leu1834=)
n.2324G>T
c.5397G>T (p.Leu1799=)
c.5460G>T (p.Leu1820=)
c.5400G>T (p.Leu1800=)
c.5598G>T (p.Leu1866=)
c.5595G>T (p.Leu1865=)
 gnomAD v4
2g.71669122C>ACA347222100DYSFc.2971C>A (p.Arg991Ser)
c.2188C>A (p.Arg730Ser)
c.2296C>A (p.Arg766Ser)
c.5440C>A (p.Arg1814Ser)
c.5557C>A (p.Arg1853Ser)
c.5443C>A (p.Arg1815Ser)
c.5506C>A (p.Arg1836Ser)
c.5554C>A (p.Arg1852Ser)
c.5536C>A (p.Arg1846Ser)
c.5464C>A (p.Arg1822Ser)
c.5491C>A (p.Arg1831Ser)
c.5494C>A (p.Arg1832Ser)
c.5533C>A (p.Arg1845Ser)
c.5503C>A (p.Arg1835Ser)
n.2325C>A
c.5398C>A (p.Arg1800Ser)
c.5461C>A (p.Arg1821Ser)
c.5401C>A (p.Arg1801Ser)
c.5599C>A (p.Arg1867Ser)
c.5596C>A (p.Arg1866Ser)
2g.71669122C=CA1260152182DYSFc.2971C= (p.Arg991=)
c.2188C= (p.Arg730=)
c.2296C= (p.Arg766=)
c.5440C= (p.Arg1814=)
c.5557C= (p.Arg1853=)
c.5443C= (p.Arg1815=)
c.5506C= (p.Arg1836=)
c.5554C= (p.Arg1852=)
c.5536C= (p.Arg1846=)
c.5464C= (p.Arg1822=)
c.5491C= (p.Arg1831=)
c.5494C= (p.Arg1832=)
c.5533C= (p.Arg1845=)
c.5503C= (p.Arg1835=)
n.2325C=
c.5398C= (p.Arg1800=)
c.5461C= (p.Arg1821=)
c.5401C= (p.Arg1801=)
c.5599C= (p.Arg1867=)
c.5596C= (p.Arg1866=)
2g.71669122C>GCA347222102DYSFc.2971C>G (p.Arg991Gly)
c.2188C>G (p.Arg730Gly)
c.2296C>G (p.Arg766Gly)
c.5440C>G (p.Arg1814Gly)
c.5557C>G (p.Arg1853Gly)
c.5443C>G (p.Arg1815Gly)
c.5506C>G (p.Arg1836Gly)
c.5554C>G (p.Arg1852Gly)
c.5536C>G (p.Arg1846Gly)
c.5464C>G (p.Arg1822Gly)
c.5491C>G (p.Arg1831Gly)
c.5494C>G (p.Arg1832Gly)
c.5533C>G (p.Arg1845Gly)
c.5503C>G (p.Arg1835Gly)
n.2325C>G
c.5398C>G (p.Arg1800Gly)
c.5461C>G (p.Arg1821Gly)
c.5401C>G (p.Arg1801Gly)
c.5599C>G (p.Arg1867Gly)
c.5596C>G (p.Arg1866Gly)
 gnomAD v4
2g.71669122C>TCA347222104DYSFc.2971C>T (p.Arg991Cys)
c.2188C>T (p.Arg730Cys)
c.2296C>T (p.Arg766Cys)
c.5440C>T (p.Arg1814Cys)
c.5557C>T (p.Arg1853Cys)
c.5443C>T (p.Arg1815Cys)
c.5506C>T (p.Arg1836Cys)
c.5554C>T (p.Arg1852Cys)
c.5536C>T (p.Arg1846Cys)
c.5464C>T (p.Arg1822Cys)
c.5491C>T (p.Arg1831Cys)
c.5494C>T (p.Arg1832Cys)
c.5533C>T (p.Arg1845Cys)
c.5503C>T (p.Arg1835Cys)
n.2325C>T
c.5398C>T (p.Arg1800Cys)
c.5461C>T (p.Arg1821Cys)
c.5401C>T (p.Arg1801Cys)
c.5599C>T (p.Arg1867Cys)
c.5596C>T (p.Arg1866Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71669123G>ACA222186DYSFc.2972G>A (p.Arg991His)
c.2189G>A (p.Arg730His)
c.2297G>A (p.Arg766His)
c.5441G>A (p.Arg1814His)
c.5558G>A (p.Arg1853His)
c.5444G>A (p.Arg1815His)
c.5507G>A (p.Arg1836His)
c.5555G>A (p.Arg1852His)
c.5537G>A (p.Arg1846His)
c.5465G>A (p.Arg1822His)
c.5492G>A (p.Arg1831His)
c.5495G>A (p.Arg1832His)
c.5534G>A (p.Arg1845His)
c.5504G>A (p.Arg1835His)
n.2326G>A
c.5399G>A (p.Arg1800His)
c.5462G>A (p.Arg1821His)
c.5402G>A (p.Arg1801His)
c.5600G>A (p.Arg1867His)
c.5597G>A (p.Arg1866His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71669123G>CCA347222675DYSFc.2972G>C (p.Arg991Pro)
c.2189G>C (p.Arg730Pro)
c.2297G>C (p.Arg766Pro)
c.5441G>C (p.Arg1814Pro)
c.5558G>C (p.Arg1853Pro)
c.5444G>C (p.Arg1815Pro)
c.5507G>C (p.Arg1836Pro)
c.5555G>C (p.Arg1852Pro)
c.5537G>C (p.Arg1846Pro)
c.5465G>C (p.Arg1822Pro)
c.5492G>C (p.Arg1831Pro)
c.5495G>C (p.Arg1832Pro)
c.5534G>C (p.Arg1845Pro)
c.5504G>C (p.Arg1835Pro)
n.2326G>C
c.5399G>C (p.Arg1800Pro)
c.5462G>C (p.Arg1821Pro)
c.5402G>C (p.Arg1801Pro)
c.5600G>C (p.Arg1867Pro)
c.5597G>C (p.Arg1866Pro)
2g.71669123G=CA1260152183DYSFc.2972G= (p.Arg991=)
c.2189G= (p.Arg730=)
c.2297G= (p.Arg766=)
c.5441G= (p.Arg1814=)
c.5558G= (p.Arg1853=)
c.5444G= (p.Arg1815=)
c.5507G= (p.Arg1836=)
c.5555G= (p.Arg1852=)
c.5537G= (p.Arg1846=)
c.5465G= (p.Arg1822=)
c.5492G= (p.Arg1831=)
c.5495G= (p.Arg1832=)
c.5534G= (p.Arg1845=)
c.5504G= (p.Arg1835=)
n.2326G=
c.5399G= (p.Arg1800=)
c.5462G= (p.Arg1821=)
c.5402G= (p.Arg1801=)
c.5600G= (p.Arg1867=)
c.5597G= (p.Arg1866=)
2g.71669123G>TCA347222677DYSFc.2972G>T (p.Arg991Leu)
c.2189G>T (p.Arg730Leu)
c.2297G>T (p.Arg766Leu)
c.5441G>T (p.Arg1814Leu)
c.5558G>T (p.Arg1853Leu)
c.5444G>T (p.Arg1815Leu)
c.5507G>T (p.Arg1836Leu)
c.5555G>T (p.Arg1852Leu)
c.5537G>T (p.Arg1846Leu)
c.5465G>T (p.Arg1822Leu)
c.5492G>T (p.Arg1831Leu)
c.5495G>T (p.Arg1832Leu)
c.5534G>T (p.Arg1845Leu)
c.5504G>T (p.Arg1835Leu)
n.2326G>T
c.5399G>T (p.Arg1800Leu)
c.5462G>T (p.Arg1821Leu)
c.5402G>T (p.Arg1801Leu)
c.5600G>T (p.Arg1867Leu)
c.5597G>T (p.Arg1866Leu)
 gnomAD v4 COSMIC COSMIC
2g.71669124T>ACA426704382DYSFc.2973T>A (p.Arg991=)
c.2190T>A (p.Arg730=)
c.2298T>A (p.Arg766=)
c.5442T>A (p.Arg1814=)
c.5559T>A (p.Arg1853=)
c.5445T>A (p.Arg1815=)
c.5508T>A (p.Arg1836=)
c.5556T>A (p.Arg1852=)
c.5538T>A (p.Arg1846=)
c.5466T>A (p.Arg1822=)
c.5493T>A (p.Arg1831=)
c.5496T>A (p.Arg1832=)
c.5535T>A (p.Arg1845=)
c.5505T>A (p.Arg1835=)
n.2327T>A
c.5400T>A (p.Arg1800=)
c.5463T>A (p.Arg1821=)
c.5403T>A (p.Arg1801=)
c.5601T>A (p.Arg1867=)
c.5598T>A (p.Arg1866=)
2g.71669124T>CCA426704381DYSFc.2973T>C (p.Arg991=)
c.2190T>C (p.Arg730=)
c.2298T>C (p.Arg766=)
c.5442T>C (p.Arg1814=)
c.5559T>C (p.Arg1853=)
c.5445T>C (p.Arg1815=)
c.5508T>C (p.Arg1836=)
c.5556T>C (p.Arg1852=)
c.5538T>C (p.Arg1846=)
c.5466T>C (p.Arg1822=)
c.5493T>C (p.Arg1831=)
c.5496T>C (p.Arg1832=)
c.5535T>C (p.Arg1845=)
c.5505T>C (p.Arg1835=)
n.2327T>C
c.5400T>C (p.Arg1800=)
c.5463T>C (p.Arg1821=)
c.5403T>C (p.Arg1801=)
c.5601T>C (p.Arg1867=)
c.5598T>C (p.Arg1866=)
 ClinVar dbSNP
2g.71669124T>GCA426704380DYSFc.2973T>G (p.Arg991=)
c.2190T>G (p.Arg730=)
c.2298T>G (p.Arg766=)
c.5442T>G (p.Arg1814=)
c.5559T>G (p.Arg1853=)
c.5445T>G (p.Arg1815=)
c.5508T>G (p.Arg1836=)
c.5556T>G (p.Arg1852=)
c.5538T>G (p.Arg1846=)
c.5466T>G (p.Arg1822=)
c.5493T>G (p.Arg1831=)
c.5496T>G (p.Arg1832=)
c.5535T>G (p.Arg1845=)
c.5505T>G (p.Arg1835=)
n.2327T>G
c.5400T>G (p.Arg1800=)
c.5463T>G (p.Arg1821=)
c.5403T>G (p.Arg1801=)
c.5601T>G (p.Arg1867=)
c.5598T>G (p.Arg1866=)
2g.71669125dupCA2659555461DYSFc.2974dup (p.Cys992LeufsTer13)
c.2191dup (p.Cys731LeufsTer13)
c.2299dup (p.Cys767LeufsTer13)
c.5443dup (p.Cys1815LeufsTer13)
c.5560dup (p.Cys1854LeufsTer13)
c.5446dup (p.Cys1816LeufsTer13)
c.5509dup (p.Cys1837LeufsTer13)
c.5557dup (p.Cys1853LeufsTer13)
c.5539dup (p.Cys1847LeufsTer13)
c.5467dup (p.Cys1823LeufsTer13)
c.5494dup (p.Cys1832LeufsTer13)
c.5497dup (p.Cys1833LeufsTer13)
c.5536dup (p.Cys1846LeufsTer13)
c.5506dup (p.Cys1836LeufsTer13)
n.2328dup
c.5401dup (p.Cys1801LeufsTer13)
c.5464dup (p.Cys1822LeufsTer13)
c.5404dup (p.Cys1802LeufsTer13)
c.5602dup (p.Cys1868LeufsTer13)
c.5599dup (p.Cys1867LeufsTer13)
 gnomAD v4
2g.71669125T>ACA347222683DYSFc.2974T>A (p.Cys992Ser)
c.2191T>A (p.Cys731Ser)
c.2299T>A (p.Cys767Ser)
c.5443T>A (p.Cys1815Ser)
c.5560T>A (p.Cys1854Ser)
c.5446T>A (p.Cys1816Ser)
c.5509T>A (p.Cys1837Ser)
c.5557T>A (p.Cys1853Ser)
c.5539T>A (p.Cys1847Ser)
c.5467T>A (p.Cys1823Ser)
c.5494T>A (p.Cys1832Ser)
c.5497T>A (p.Cys1833Ser)
c.5536T>A (p.Cys1846Ser)
c.5506T>A (p.Cys1836Ser)
n.2328T>A
c.5401T>A (p.Cys1801Ser)
c.5464T>A (p.Cys1822Ser)
c.5404T>A (p.Cys1802Ser)
c.5602T>A (p.Cys1868Ser)
c.5599T>A (p.Cys1867Ser)
2g.71669125T>CCA347222681DYSFc.2974T>C (p.Cys992Arg)
c.2191T>C (p.Cys731Arg)
c.2299T>C (p.Cys767Arg)
c.5443T>C (p.Cys1815Arg)
c.5560T>C (p.Cys1854Arg)
c.5446T>C (p.Cys1816Arg)
c.5509T>C (p.Cys1837Arg)
c.5557T>C (p.Cys1853Arg)
c.5539T>C (p.Cys1847Arg)
c.5467T>C (p.Cys1823Arg)
c.5494T>C (p.Cys1832Arg)
c.5497T>C (p.Cys1833Arg)
c.5536T>C (p.Cys1846Arg)
c.5506T>C (p.Cys1836Arg)
n.2328T>C
c.5401T>C (p.Cys1801Arg)
c.5464T>C (p.Cys1822Arg)
c.5404T>C (p.Cys1802Arg)
c.5602T>C (p.Cys1868Arg)
c.5599T>C (p.Cys1867Arg)
 ClinVar dbSNP
2g.71669125T>GCA347222679DYSFc.2974T>G (p.Cys992Gly)
c.2191T>G (p.Cys731Gly)
c.2299T>G (p.Cys767Gly)
c.5443T>G (p.Cys1815Gly)
c.5560T>G (p.Cys1854Gly)
c.5446T>G (p.Cys1816Gly)
c.5509T>G (p.Cys1837Gly)
c.5557T>G (p.Cys1853Gly)
c.5539T>G (p.Cys1847Gly)
c.5467T>G (p.Cys1823Gly)
c.5494T>G (p.Cys1832Gly)
c.5497T>G (p.Cys1833Gly)
c.5536T>G (p.Cys1846Gly)
c.5506T>G (p.Cys1836Gly)
n.2328T>G
c.5401T>G (p.Cys1801Gly)
c.5464T>G (p.Cys1822Gly)
c.5404T>G (p.Cys1802Gly)
c.5602T>G (p.Cys1868Gly)
c.5599T>G (p.Cys1867Gly)
2g.71669125T=CA1260152184DYSFc.2974T= (p.Cys992=)
c.2191T= (p.Cys731=)
c.2299T= (p.Cys767=)
c.5443T= (p.Cys1815=)
c.5560T= (p.Cys1854=)
c.5446T= (p.Cys1816=)
c.5509T= (p.Cys1837=)
c.5557T= (p.Cys1853=)
c.5539T= (p.Cys1847=)
c.5467T= (p.Cys1823=)
c.5494T= (p.Cys1832=)
c.5497T= (p.Cys1833=)
c.5536T= (p.Cys1846=)
c.5506T= (p.Cys1836=)
n.2328T=
c.5401T= (p.Cys1801=)
c.5464T= (p.Cys1822=)
c.5404T= (p.Cys1802=)
c.5602T= (p.Cys1868=)
c.5599T= (p.Cys1867=)
2g.71669126G>ACA347222684DYSFc.2975G>A (p.Cys992Tyr)
c.2192G>A (p.Cys731Tyr)
c.2300G>A (p.Cys767Tyr)
c.5444G>A (p.Cys1815Tyr)
c.5561G>A (p.Cys1854Tyr)
c.5447G>A (p.Cys1816Tyr)
c.5510G>A (p.Cys1837Tyr)
c.5558G>A (p.Cys1853Tyr)
c.5540G>A (p.Cys1847Tyr)
c.5468G>A (p.Cys1823Tyr)
c.5495G>A (p.Cys1832Tyr)
c.5498G>A (p.Cys1833Tyr)
c.5537G>A (p.Cys1846Tyr)
c.5507G>A (p.Cys1836Tyr)
n.2329G>A
c.5402G>A (p.Cys1801Tyr)
c.5465G>A (p.Cys1822Tyr)
c.5405G>A (p.Cys1802Tyr)
c.5603G>A (p.Cys1868Tyr)
c.5600G>A (p.Cys1867Tyr)
2g.71669126G>CCA347222688DYSFc.2975G>C (p.Cys992Ser)
c.2192G>C (p.Cys731Ser)
c.2300G>C (p.Cys767Ser)
c.5444G>C (p.Cys1815Ser)
c.5561G>C (p.Cys1854Ser)
c.5447G>C (p.Cys1816Ser)
c.5510G>C (p.Cys1837Ser)
c.5558G>C (p.Cys1853Ser)
c.5540G>C (p.Cys1847Ser)
c.5468G>C (p.Cys1823Ser)
c.5495G>C (p.Cys1832Ser)
c.5498G>C (p.Cys1833Ser)
c.5537G>C (p.Cys1846Ser)
c.5507G>C (p.Cys1836Ser)
n.2329G>C
c.5402G>C (p.Cys1801Ser)
c.5465G>C (p.Cys1822Ser)
c.5405G>C (p.Cys1802Ser)
c.5603G>C (p.Cys1868Ser)
c.5600G>C (p.Cys1867Ser)
2g.71669126G=CA1260152185DYSFc.2975G= (p.Cys992=)
c.2192G= (p.Cys731=)
c.2300G= (p.Cys767=)
c.5444G= (p.Cys1815=)
c.5561G= (p.Cys1854=)
c.5447G= (p.Cys1816=)
c.5510G= (p.Cys1837=)
c.5558G= (p.Cys1853=)
c.5540G= (p.Cys1847=)
c.5468G= (p.Cys1823=)
c.5495G= (p.Cys1832=)
c.5498G= (p.Cys1833=)
c.5537G= (p.Cys1846=)
c.5507G= (p.Cys1836=)
n.2329G=
c.5402G= (p.Cys1801=)
c.5465G= (p.Cys1822=)
c.5405G= (p.Cys1802=)
c.5603G= (p.Cys1868=)
c.5600G= (p.Cys1867=)
2g.71669126G>TCA10604436DYSFc.2975G>T (p.Cys992Phe)
c.2192G>T (p.Cys731Phe)
c.2300G>T (p.Cys767Phe)
c.5444G>T (p.Cys1815Phe)
c.5561G>T (p.Cys1854Phe)
c.5447G>T (p.Cys1816Phe)
c.5510G>T (p.Cys1837Phe)
c.5558G>T (p.Cys1853Phe)
c.5540G>T (p.Cys1847Phe)
c.5468G>T (p.Cys1823Phe)
c.5495G>T (p.Cys1832Phe)
c.5498G>T (p.Cys1833Phe)
c.5537G>T (p.Cys1846Phe)
c.5507G>T (p.Cys1836Phe)
n.2329G>T
c.5402G>T (p.Cys1801Phe)
c.5465G>T (p.Cys1822Phe)
c.5405G>T (p.Cys1802Phe)
c.5603G>T (p.Cys1868Phe)
c.5600G>T (p.Cys1867Phe)
 ClinVar dbSNP gnomAD v4
2g.71669127T>ACA347222692DYSFc.2976T>A (p.Cys992Ter)
c.2193T>A (p.Cys731Ter)
c.2301T>A (p.Cys767Ter)
c.5445T>A (p.Cys1815Ter)
c.5562T>A (p.Cys1854Ter)
c.5448T>A (p.Cys1816Ter)
c.5511T>A (p.Cys1837Ter)
c.5559T>A (p.Cys1853Ter)
c.5541T>A (p.Cys1847Ter)
c.5469T>A (p.Cys1823Ter)
c.5496T>A (p.Cys1832Ter)
c.5499T>A (p.Cys1833Ter)
c.5538T>A (p.Cys1846Ter)
c.5508T>A (p.Cys1836Ter)
n.2330T>A
c.5403T>A (p.Cys1801Ter)
c.5466T>A (p.Cys1822Ter)
c.5406T>A (p.Cys1802Ter)
c.5604T>A (p.Cys1868Ter)
c.5601T>A (p.Cys1867Ter)
 dbSNP gnomAD v4
2g.71669127T>CCA426704384DYSFc.2976T>C (p.Cys992=)
c.2193T>C (p.Cys731=)
c.2301T>C (p.Cys767=)
c.5445T>C (p.Cys1815=)
c.5562T>C (p.Cys1854=)
c.5448T>C (p.Cys1816=)
c.5511T>C (p.Cys1837=)
c.5559T>C (p.Cys1853=)
c.5541T>C (p.Cys1847=)
c.5469T>C (p.Cys1823=)
c.5496T>C (p.Cys1832=)
c.5499T>C (p.Cys1833=)
c.5538T>C (p.Cys1846=)
c.5508T>C (p.Cys1836=)
n.2330T>C
c.5403T>C (p.Cys1801=)
c.5466T>C (p.Cys1822=)
c.5406T>C (p.Cys1802=)
c.5604T>C (p.Cys1868=)
c.5601T>C (p.Cys1867=)
2g.71669127T>GCA347222694DYSFc.2976T>G (p.Cys992Trp)
c.2193T>G (p.Cys731Trp)
c.2301T>G (p.Cys767Trp)
c.5445T>G (p.Cys1815Trp)
c.5562T>G (p.Cys1854Trp)
c.5448T>G (p.Cys1816Trp)
c.5511T>G (p.Cys1837Trp)
c.5559T>G (p.Cys1853Trp)
c.5541T>G (p.Cys1847Trp)
c.5469T>G (p.Cys1823Trp)
c.5496T>G (p.Cys1832Trp)
c.5499T>G (p.Cys1833Trp)
c.5538T>G (p.Cys1846Trp)
c.5508T>G (p.Cys1836Trp)
n.2330T>G
c.5403T>G (p.Cys1801Trp)
c.5466T>G (p.Cys1822Trp)
c.5406T>G (p.Cys1802Trp)
c.5604T>G (p.Cys1868Trp)
c.5601T>G (p.Cys1867Trp)
2g.71669127T=CA1260152186DYSFc.2976T= (p.Cys992=)
c.2193T= (p.Cys731=)
c.2301T= (p.Cys767=)
c.5445T= (p.Cys1815=)
c.5562T= (p.Cys1854=)
c.5448T= (p.Cys1816=)
c.5511T= (p.Cys1837=)
c.5559T= (p.Cys1853=)
c.5541T= (p.Cys1847=)
c.5469T= (p.Cys1823=)
c.5496T= (p.Cys1832=)
c.5499T= (p.Cys1833=)
c.5538T= (p.Cys1846=)
c.5508T= (p.Cys1836=)
n.2330T=
c.5403T= (p.Cys1801=)
c.5466T= (p.Cys1822=)
c.5406T= (p.Cys1802=)
c.5604T= (p.Cys1868=)
c.5601T= (p.Cys1867=)
2g.71669128delCA2580067833DYSFc.2977del (p.Ile993LeufsTer8)
c.2194del (p.Ile732LeufsTer8)
c.2302del (p.Ile768LeufsTer8)
c.5446del (p.Ile1816LeufsTer8)
c.5563del (p.Ile1855LeufsTer8)
c.5449del (p.Ile1817LeufsTer8)
c.5512del (p.Ile1838LeufsTer8)
c.5560del (p.Ile1854LeufsTer8)
c.5542del (p.Ile1848LeufsTer8)
c.5470del (p.Ile1824LeufsTer8)
c.5497del (p.Ile1833LeufsTer8)
c.5500del (p.Ile1834LeufsTer8)
c.5539del (p.Ile1847LeufsTer8)
c.5509del (p.Ile1837LeufsTer8)
n.2331del
c.5404del (p.Ile1802LeufsTer8)
c.5467del (p.Ile1823LeufsTer8)
c.5407del (p.Ile1803LeufsTer8)
c.5605del (p.Ile1869LeufsTer8)
c.5602del (p.Ile1868LeufsTer8)
 ClinVar gnomAD v4
2g.71669128A=CA1260152187DYSFc.2977A= (p.Ile993=)
c.2194A= (p.Ile732=)
c.2302A= (p.Ile768=)
c.5446A= (p.Ile1816=)
c.5563A= (p.Ile1855=)
c.5449A= (p.Ile1817=)
c.5512A= (p.Ile1838=)
c.5560A= (p.Ile1854=)
c.5542A= (p.Ile1848=)
c.5470A= (p.Ile1824=)
c.5497A= (p.Ile1833=)
c.5500A= (p.Ile1834=)
c.5539A= (p.Ile1847=)
c.5509A= (p.Ile1837=)
n.2331A=
c.5404A= (p.Ile1802=)
c.5467A= (p.Ile1823=)
c.5407A= (p.Ile1803=)
c.5605A= (p.Ile1869=)
c.5602A= (p.Ile1868=)
2g.71669128A>CCA347222697DYSFc.2977A>C (p.Ile993Leu)
c.2194A>C (p.Ile732Leu)
c.2302A>C (p.Ile768Leu)
c.5446A>C (p.Ile1816Leu)
c.5563A>C (p.Ile1855Leu)
c.5449A>C (p.Ile1817Leu)
c.5512A>C (p.Ile1838Leu)
c.5560A>C (p.Ile1854Leu)
c.5542A>C (p.Ile1848Leu)
c.5470A>C (p.Ile1824Leu)
c.5497A>C (p.Ile1833Leu)
c.5500A>C (p.Ile1834Leu)
c.5539A>C (p.Ile1847Leu)
c.5509A>C (p.Ile1837Leu)
n.2331A>C
c.5404A>C (p.Ile1802Leu)
c.5467A>C (p.Ile1823Leu)
c.5407A>C (p.Ile1803Leu)
c.5605A>C (p.Ile1869Leu)
c.5602A>C (p.Ile1868Leu)
2g.71669128A>GCA347222698DYSFc.2977A>G (p.Ile993Val)
c.2194A>G (p.Ile732Val)
c.2302A>G (p.Ile768Val)
c.5446A>G (p.Ile1816Val)
c.5563A>G (p.Ile1855Val)
c.5449A>G (p.Ile1817Val)
c.5512A>G (p.Ile1838Val)
c.5560A>G (p.Ile1854Val)
c.5542A>G (p.Ile1848Val)
c.5470A>G (p.Ile1824Val)
c.5497A>G (p.Ile1833Val)
c.5500A>G (p.Ile1834Val)
c.5539A>G (p.Ile1847Val)
c.5509A>G (p.Ile1837Val)
n.2331A>G
c.5404A>G (p.Ile1802Val)
c.5467A>G (p.Ile1823Val)
c.5407A>G (p.Ile1803Val)
c.5605A>G (p.Ile1869Val)
c.5602A>G (p.Ile1868Val)
 dbSNP gnomAD v4
2g.71669128A>TCA347222700DYSFc.2977A>T (p.Ile993Phe)
c.2194A>T (p.Ile732Phe)
c.2302A>T (p.Ile768Phe)
c.5446A>T (p.Ile1816Phe)
c.5563A>T (p.Ile1855Phe)
c.5449A>T (p.Ile1817Phe)
c.5512A>T (p.Ile1838Phe)
c.5560A>T (p.Ile1854Phe)
c.5542A>T (p.Ile1848Phe)
c.5470A>T (p.Ile1824Phe)
c.5497A>T (p.Ile1833Phe)
c.5500A>T (p.Ile1834Phe)
c.5539A>T (p.Ile1847Phe)
c.5509A>T (p.Ile1837Phe)
n.2331A>T
c.5404A>T (p.Ile1802Phe)
c.5467A>T (p.Ile1823Phe)
c.5407A>T (p.Ile1803Phe)
c.5605A>T (p.Ile1869Phe)
c.5602A>T (p.Ile1868Phe)
2g.71669129T>ACA347222703DYSFc.2978T>A (p.Ile993Asn)
c.2195T>A (p.Ile732Asn)
c.2303T>A (p.Ile768Asn)
c.5447T>A (p.Ile1816Asn)
c.5564T>A (p.Ile1855Asn)
c.5450T>A (p.Ile1817Asn)
c.5513T>A (p.Ile1838Asn)
c.5561T>A (p.Ile1854Asn)
c.5543T>A (p.Ile1848Asn)
c.5471T>A (p.Ile1824Asn)
c.5498T>A (p.Ile1833Asn)
c.5501T>A (p.Ile1834Asn)
c.5540T>A (p.Ile1847Asn)
c.5510T>A (p.Ile1837Asn)
n.2332T>A
c.5405T>A (p.Ile1802Asn)
c.5468T>A (p.Ile1823Asn)
c.5408T>A (p.Ile1803Asn)
c.5606T>A (p.Ile1869Asn)
c.5603T>A (p.Ile1868Asn)
2g.71669129T>CCA347222706DYSFc.2978T>C (p.Ile993Thr)
c.2195T>C (p.Ile732Thr)
c.2303T>C (p.Ile768Thr)
c.5447T>C (p.Ile1816Thr)
c.5564T>C (p.Ile1855Thr)
c.5450T>C (p.Ile1817Thr)
c.5513T>C (p.Ile1838Thr)
c.5561T>C (p.Ile1854Thr)
c.5543T>C (p.Ile1848Thr)
c.5471T>C (p.Ile1824Thr)
c.5498T>C (p.Ile1833Thr)
c.5501T>C (p.Ile1834Thr)
c.5540T>C (p.Ile1847Thr)
c.5510T>C (p.Ile1837Thr)
n.2332T>C
c.5405T>C (p.Ile1802Thr)
c.5468T>C (p.Ile1823Thr)
c.5408T>C (p.Ile1803Thr)
c.5606T>C (p.Ile1869Thr)
c.5603T>C (p.Ile1868Thr)
2g.71669129T>GCA347222708DYSFc.2978T>G (p.Ile993Ser)
c.2195T>G (p.Ile732Ser)
c.2303T>G (p.Ile768Ser)
c.5447T>G (p.Ile1816Ser)
c.5564T>G (p.Ile1855Ser)
c.5450T>G (p.Ile1817Ser)
c.5513T>G (p.Ile1838Ser)
c.5561T>G (p.Ile1854Ser)
c.5543T>G (p.Ile1848Ser)
c.5471T>G (p.Ile1824Ser)
c.5498T>G (p.Ile1833Ser)
c.5501T>G (p.Ile1834Ser)
c.5540T>G (p.Ile1847Ser)
c.5510T>G (p.Ile1837Ser)
n.2332T>G
c.5405T>G (p.Ile1802Ser)
c.5468T>G (p.Ile1823Ser)
c.5408T>G (p.Ile1803Ser)
c.5606T>G (p.Ile1869Ser)
c.5603T>G (p.Ile1868Ser)
2g.71669130delCA2659555462DYSFc.2979del (p.Ile994SerfsTer7)
c.2196del (p.Ile733SerfsTer7)
c.2304del (p.Ile769SerfsTer7)
c.5448del (p.Ile1817SerfsTer7)
c.5565del (p.Ile1856SerfsTer7)
c.5451del (p.Ile1818SerfsTer7)
c.5514del (p.Ile1839SerfsTer7)
c.5562del (p.Ile1855SerfsTer7)
c.5544del (p.Ile1849SerfsTer7)
c.5472del (p.Ile1825SerfsTer7)
c.5499del (p.Ile1834SerfsTer7)
c.5502del (p.Ile1835SerfsTer7)
c.5541del (p.Ile1848SerfsTer7)
c.5511del (p.Ile1838SerfsTer7)
n.2333del
c.5406del (p.Ile1803SerfsTer7)
c.5469del (p.Ile1824SerfsTer7)
c.5409del (p.Ile1804SerfsTer7)
c.5607del (p.Ile1870SerfsTer7)
c.5604del (p.Ile1869SerfsTer7)
 gnomAD v4
2g.71669130T>ACA426704385DYSFc.2979T>A (p.Ile993=)
c.2196T>A (p.Ile732=)
c.2304T>A (p.Ile768=)
c.5448T>A (p.Ile1816=)
c.5565T>A (p.Ile1855=)
c.5451T>A (p.Ile1817=)
c.5514T>A (p.Ile1838=)
c.5562T>A (p.Ile1854=)
c.5544T>A (p.Ile1848=)
c.5472T>A (p.Ile1824=)
c.5499T>A (p.Ile1833=)
c.5502T>A (p.Ile1834=)
c.5541T>A (p.Ile1847=)
c.5511T>A (p.Ile1837=)
n.2333T>A
c.5406T>A (p.Ile1802=)
c.5469T>A (p.Ile1823=)
c.5409T>A (p.Ile1803=)
c.5607T>A (p.Ile1869=)
c.5604T>A (p.Ile1868=)
2g.71669130T>CCA426704386DYSFc.2979T>C (p.Ile993=)
c.2196T>C (p.Ile732=)
c.2304T>C (p.Ile768=)
c.5448T>C (p.Ile1816=)
c.5565T>C (p.Ile1855=)
c.5451T>C (p.Ile1817=)
c.5514T>C (p.Ile1838=)
c.5562T>C (p.Ile1854=)
c.5544T>C (p.Ile1848=)
c.5472T>C (p.Ile1824=)
c.5499T>C (p.Ile1833=)
c.5502T>C (p.Ile1834=)
c.5541T>C (p.Ile1847=)
c.5511T>C (p.Ile1837=)
n.2333T>C
c.5406T>C (p.Ile1802=)
c.5469T>C (p.Ile1823=)
c.5409T>C (p.Ile1803=)
c.5607T>C (p.Ile1869=)
c.5604T>C (p.Ile1868=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71669130T>GCA347222710DYSFc.2979T>G (p.Ile993Met)
c.2196T>G (p.Ile732Met)
c.2304T>G (p.Ile768Met)
c.5448T>G (p.Ile1816Met)
c.5565T>G (p.Ile1855Met)
c.5451T>G (p.Ile1817Met)
c.5514T>G (p.Ile1838Met)
c.5562T>G (p.Ile1854Met)
c.5544T>G (p.Ile1848Met)
c.5472T>G (p.Ile1824Met)
c.5499T>G (p.Ile1833Met)
c.5502T>G (p.Ile1834Met)
c.5541T>G (p.Ile1847Met)
c.5511T>G (p.Ile1837Met)
n.2333T>G
c.5406T>G (p.Ile1802Met)
c.5469T>G (p.Ile1823Met)
c.5409T>G (p.Ile1803Met)
c.5607T>G (p.Ile1869Met)
c.5604T>G (p.Ile1868Met)
2g.71669130T=CA1260152188DYSFc.2979T= (p.Ile993=)
c.2196T= (p.Ile732=)
c.2304T= (p.Ile768=)
c.5448T= (p.Ile1816=)
c.5565T= (p.Ile1855=)
c.5451T= (p.Ile1817=)
c.5514T= (p.Ile1838=)
c.5562T= (p.Ile1854=)
c.5544T= (p.Ile1848=)
c.5472T= (p.Ile1824=)
c.5499T= (p.Ile1833=)
c.5502T= (p.Ile1834=)
c.5541T= (p.Ile1847=)
c.5511T= (p.Ile1837=)
n.2333T=
c.5406T= (p.Ile1802=)
c.5469T= (p.Ile1823=)
c.5409T= (p.Ile1803=)
c.5607T= (p.Ile1869=)
c.5604T= (p.Ile1868=)
2g.71669131A>CCA347222715DYSFc.2980A>C (p.Ile994Leu)
c.2197A>C (p.Ile733Leu)
c.2305A>C (p.Ile769Leu)
c.5449A>C (p.Ile1817Leu)
c.5566A>C (p.Ile1856Leu)
c.5452A>C (p.Ile1818Leu)
c.5515A>C (p.Ile1839Leu)
c.5563A>C (p.Ile1855Leu)
c.5545A>C (p.Ile1849Leu)
c.5473A>C (p.Ile1825Leu)
c.5500A>C (p.Ile1834Leu)
c.5503A>C (p.Ile1835Leu)
c.5542A>C (p.Ile1848Leu)
c.5512A>C (p.Ile1838Leu)
n.2334A>C
c.5407A>C (p.Ile1803Leu)
c.5470A>C (p.Ile1824Leu)
c.5410A>C (p.Ile1804Leu)
c.5608A>C (p.Ile1870Leu)
c.5605A>C (p.Ile1869Leu)
2g.71669131A>GCA347222714DYSFc.2980A>G (p.Ile994Val)
c.2197A>G (p.Ile733Val)
c.2305A>G (p.Ile769Val)
c.5449A>G (p.Ile1817Val)
c.5566A>G (p.Ile1856Val)
c.5452A>G (p.Ile1818Val)
c.5515A>G (p.Ile1839Val)
c.5563A>G (p.Ile1855Val)
c.5545A>G (p.Ile1849Val)
c.5473A>G (p.Ile1825Val)
c.5500A>G (p.Ile1834Val)
c.5503A>G (p.Ile1835Val)
c.5542A>G (p.Ile1848Val)
c.5512A>G (p.Ile1838Val)
n.2334A>G
c.5407A>G (p.Ile1803Val)
c.5470A>G (p.Ile1824Val)
c.5410A>G (p.Ile1804Val)
c.5608A>G (p.Ile1870Val)
c.5605A>G (p.Ile1869Val)
2g.71669131A>TCA347222713DYSFc.2980A>T (p.Ile994Phe)
c.2197A>T (p.Ile733Phe)
c.2305A>T (p.Ile769Phe)
c.5449A>T (p.Ile1817Phe)
c.5566A>T (p.Ile1856Phe)
c.5452A>T (p.Ile1818Phe)
c.5515A>T (p.Ile1839Phe)
c.5563A>T (p.Ile1855Phe)
c.5545A>T (p.Ile1849Phe)
c.5473A>T (p.Ile1825Phe)
c.5500A>T (p.Ile1834Phe)
c.5503A>T (p.Ile1835Phe)
c.5542A>T (p.Ile1848Phe)
c.5512A>T (p.Ile1838Phe)
n.2334A>T
c.5407A>T (p.Ile1803Phe)
c.5470A>T (p.Ile1824Phe)
c.5410A>T (p.Ile1804Phe)
c.5608A>T (p.Ile1870Phe)
c.5605A>T (p.Ile1869Phe)
2g.71669132T>ACA347222716DYSFc.2981T>A (p.Ile994Asn)
c.2198T>A (p.Ile733Asn)
c.2306T>A (p.Ile769Asn)
c.5450T>A (p.Ile1817Asn)
c.5567T>A (p.Ile1856Asn)
c.5453T>A (p.Ile1818Asn)
c.5516T>A (p.Ile1839Asn)
c.5564T>A (p.Ile1855Asn)
c.5546T>A (p.Ile1849Asn)
c.5474T>A (p.Ile1825Asn)
c.5501T>A (p.Ile1834Asn)
c.5504T>A (p.Ile1835Asn)
c.5543T>A (p.Ile1848Asn)
c.5513T>A (p.Ile1838Asn)
n.2335T>A
c.5408T>A (p.Ile1803Asn)
c.5471T>A (p.Ile1824Asn)
c.5411T>A (p.Ile1804Asn)
c.5609T>A (p.Ile1870Asn)
c.5606T>A (p.Ile1869Asn)
 gnomAD v4
2g.71669132T>CCA347222718DYSFc.2981T>C (p.Ile994Thr)
c.2198T>C (p.Ile733Thr)
c.2306T>C (p.Ile769Thr)
c.5450T>C (p.Ile1817Thr)
c.5567T>C (p.Ile1856Thr)
c.5453T>C (p.Ile1818Thr)
c.5516T>C (p.Ile1839Thr)
c.5564T>C (p.Ile1855Thr)
c.5546T>C (p.Ile1849Thr)
c.5474T>C (p.Ile1825Thr)
c.5501T>C (p.Ile1834Thr)
c.5504T>C (p.Ile1835Thr)
c.5543T>C (p.Ile1848Thr)
c.5513T>C (p.Ile1838Thr)
n.2335T>C
c.5408T>C (p.Ile1803Thr)
c.5471T>C (p.Ile1824Thr)
c.5411T>C (p.Ile1804Thr)
c.5609T>C (p.Ile1870Thr)
c.5606T>C (p.Ile1869Thr)
2g.71669132T>GCA347222717DYSFc.2981T>G (p.Ile994Ser)
c.2198T>G (p.Ile733Ser)
c.2306T>G (p.Ile769Ser)
c.5450T>G (p.Ile1817Ser)
c.5567T>G (p.Ile1856Ser)
c.5453T>G (p.Ile1818Ser)
c.5516T>G (p.Ile1839Ser)
c.5564T>G (p.Ile1855Ser)
c.5546T>G (p.Ile1849Ser)
c.5474T>G (p.Ile1825Ser)
c.5501T>G (p.Ile1834Ser)
c.5504T>G (p.Ile1835Ser)
c.5543T>G (p.Ile1848Ser)
c.5513T>G (p.Ile1838Ser)
n.2335T>G
c.5408T>G (p.Ile1803Ser)
c.5471T>G (p.Ile1824Ser)
c.5411T>G (p.Ile1804Ser)
c.5609T>G (p.Ile1870Ser)
c.5606T>G (p.Ile1869Ser)
2g.71669133C>ACA426704390DYSFc.2982C>A (p.Ile994=)
c.2199C>A (p.Ile733=)
c.2307C>A (p.Ile769=)
c.5451C>A (p.Ile1817=)
c.5568C>A (p.Ile1856=)
c.5454C>A (p.Ile1818=)
c.5517C>A (p.Ile1839=)
c.5565C>A (p.Ile1855=)
c.5547C>A (p.Ile1849=)
c.5475C>A (p.Ile1825=)
c.5502C>A (p.Ile1834=)
c.5505C>A (p.Ile1835=)
c.5544C>A (p.Ile1848=)
c.5514C>A (p.Ile1838=)
n.2336C>A
c.5409C>A (p.Ile1803=)
c.5472C>A (p.Ile1824=)
c.5412C>A (p.Ile1804=)
c.5610C>A (p.Ile1870=)
c.5607C>A (p.Ile1869=)
 gnomAD v4
2g.71669133C>GCA347222719DYSFc.2982C>G (p.Ile994Met)
c.2199C>G (p.Ile733Met)
c.2307C>G (p.Ile769Met)
c.5451C>G (p.Ile1817Met)
c.5568C>G (p.Ile1856Met)
c.5454C>G (p.Ile1818Met)
c.5517C>G (p.Ile1839Met)
c.5565C>G (p.Ile1855Met)
c.5547C>G (p.Ile1849Met)
c.5475C>G (p.Ile1825Met)
c.5502C>G (p.Ile1834Met)
c.5505C>G (p.Ile1835Met)
c.5544C>G (p.Ile1848Met)
c.5514C>G (p.Ile1838Met)
n.2336C>G
c.5409C>G (p.Ile1803Met)
c.5472C>G (p.Ile1824Met)
c.5412C>G (p.Ile1804Met)
c.5610C>G (p.Ile1870Met)
c.5607C>G (p.Ile1869Met)
2g.71669133C>TCA426704391DYSFc.2982C>T (p.Ile994=)
c.2199C>T (p.Ile733=)
c.2307C>T (p.Ile769=)
c.5451C>T (p.Ile1817=)
c.5568C>T (p.Ile1856=)
c.5454C>T (p.Ile1818=)
c.5517C>T (p.Ile1839=)
c.5565C>T (p.Ile1855=)
c.5547C>T (p.Ile1849=)
c.5475C>T (p.Ile1825=)
c.5502C>T (p.Ile1834=)
c.5505C>T (p.Ile1835=)
c.5544C>T (p.Ile1848=)
c.5514C>T (p.Ile1838=)
n.2336C>T
c.5409C>T (p.Ile1803=)
c.5472C>T (p.Ile1824=)
c.5412C>T (p.Ile1804=)
c.5610C>T (p.Ile1870=)
c.5607C>T (p.Ile1869=)
2g.71669134T>ACA347222721DYSFc.2983T>A (p.Trp995Arg)
c.2200T>A (p.Trp734Arg)
c.2308T>A (p.Trp770Arg)
c.5452T>A (p.Trp1818Arg)
c.5569T>A (p.Trp1857Arg)
c.5455T>A (p.Trp1819Arg)
c.5518T>A (p.Trp1840Arg)
c.5566T>A (p.Trp1856Arg)
c.5548T>A (p.Trp1850Arg)
c.5476T>A (p.Trp1826Arg)
c.5503T>A (p.Trp1835Arg)
c.5506T>A (p.Trp1836Arg)
c.5545T>A (p.Trp1849Arg)
c.5515T>A (p.Trp1839Arg)
n.2337T>A
c.5410T>A (p.Trp1804Arg)
c.5473T>A (p.Trp1825Arg)
c.5413T>A (p.Trp1805Arg)
c.5611T>A (p.Trp1871Arg)
c.5608T>A (p.Trp1870Arg)
 gnomAD v4
2g.71669134T>CCA347222723DYSFc.2983T>C (p.Trp995Arg)
c.2200T>C (p.Trp734Arg)
c.2308T>C (p.Trp770Arg)
c.5452T>C (p.Trp1818Arg)
c.5569T>C (p.Trp1857Arg)
c.5455T>C (p.Trp1819Arg)
c.5518T>C (p.Trp1840Arg)
c.5566T>C (p.Trp1856Arg)
c.5548T>C (p.Trp1850Arg)
c.5476T>C (p.Trp1826Arg)
c.5503T>C (p.Trp1835Arg)
c.5506T>C (p.Trp1836Arg)
c.5545T>C (p.Trp1849Arg)
c.5515T>C (p.Trp1839Arg)
n.2337T>C
c.5410T>C (p.Trp1804Arg)
c.5473T>C (p.Trp1825Arg)
c.5413T>C (p.Trp1805Arg)
c.5611T>C (p.Trp1871Arg)
c.5608T>C (p.Trp1870Arg)
2g.71669134T>GCA347222725DYSFc.2983T>G (p.Trp995Gly)
c.2200T>G (p.Trp734Gly)
c.2308T>G (p.Trp770Gly)
c.5452T>G (p.Trp1818Gly)
c.5569T>G (p.Trp1857Gly)
c.5455T>G (p.Trp1819Gly)
c.5518T>G (p.Trp1840Gly)
c.5566T>G (p.Trp1856Gly)
c.5548T>G (p.Trp1850Gly)
c.5476T>G (p.Trp1826Gly)
c.5503T>G (p.Trp1835Gly)
c.5506T>G (p.Trp1836Gly)
c.5545T>G (p.Trp1849Gly)
c.5515T>G (p.Trp1839Gly)
n.2337T>G
c.5410T>G (p.Trp1804Gly)
c.5473T>G (p.Trp1825Gly)
c.5413T>G (p.Trp1805Gly)
c.5611T>G (p.Trp1871Gly)
c.5608T>G (p.Trp1870Gly)
2g.71669135G>ACA347222726DYSFc.2984G>A (p.Trp995Ter)
c.2201G>A (p.Trp734Ter)
c.2309G>A (p.Trp770Ter)
c.5453G>A (p.Trp1818Ter)
c.5570G>A (p.Trp1857Ter)
c.5456G>A (p.Trp1819Ter)
c.5519G>A (p.Trp1840Ter)
c.5567G>A (p.Trp1856Ter)
c.5549G>A (p.Trp1850Ter)
c.5477G>A (p.Trp1826Ter)
c.5504G>A (p.Trp1835Ter)
c.5507G>A (p.Trp1836Ter)
c.5546G>A (p.Trp1849Ter)
c.5516G>A (p.Trp1839Ter)
n.2338G>A
c.5411G>A (p.Trp1804Ter)
c.5474G>A (p.Trp1825Ter)
c.5414G>A (p.Trp1805Ter)
c.5612G>A (p.Trp1871Ter)
c.5609G>A (p.Trp1870Ter)
 gnomAD v4
2g.71669135G>CCA347222728DYSFc.2984G>C (p.Trp995Ser)
c.2201G>C (p.Trp734Ser)
c.2309G>C (p.Trp770Ser)
c.5453G>C (p.Trp1818Ser)
c.5570G>C (p.Trp1857Ser)
c.5456G>C (p.Trp1819Ser)
c.5519G>C (p.Trp1840Ser)
c.5567G>C (p.Trp1856Ser)
c.5549G>C (p.Trp1850Ser)
c.5477G>C (p.Trp1826Ser)
c.5504G>C (p.Trp1835Ser)
c.5507G>C (p.Trp1836Ser)
c.5546G>C (p.Trp1849Ser)
c.5516G>C (p.Trp1839Ser)
n.2338G>C
c.5411G>C (p.Trp1804Ser)
c.5474G>C (p.Trp1825Ser)
c.5414G>C (p.Trp1805Ser)
c.5612G>C (p.Trp1871Ser)
c.5609G>C (p.Trp1870Ser)
2g.71669135G>TCA347222732DYSFc.2984G>T (p.Trp995Leu)
c.2201G>T (p.Trp734Leu)
c.2309G>T (p.Trp770Leu)
c.5453G>T (p.Trp1818Leu)
c.5570G>T (p.Trp1857Leu)
c.5456G>T (p.Trp1819Leu)
c.5519G>T (p.Trp1840Leu)
c.5567G>T (p.Trp1856Leu)
c.5549G>T (p.Trp1850Leu)
c.5477G>T (p.Trp1826Leu)
c.5504G>T (p.Trp1835Leu)
c.5507G>T (p.Trp1836Leu)
c.5546G>T (p.Trp1849Leu)
c.5516G>T (p.Trp1839Leu)
n.2338G>T
c.5411G>T (p.Trp1804Leu)
c.5474G>T (p.Trp1825Leu)
c.5414G>T (p.Trp1805Leu)
c.5612G>T (p.Trp1871Leu)
c.5609G>T (p.Trp1870Leu)
 gnomAD v4
2g.71669136delCA2659555463DYSFc.2985del (p.Trp995Ter)
c.2202del (p.Trp734Ter)
c.2310del (p.Trp770Ter)
c.5454del (p.Trp1818Ter)
c.5571del (p.Trp1857Ter)
c.5457del (p.Trp1819Ter)
c.5520del (p.Trp1840Ter)
c.5568del (p.Trp1856Ter)
c.5550del (p.Trp1850Ter)
c.5478del (p.Trp1826Ter)
c.5505del (p.Trp1835Ter)
c.5508del (p.Trp1836Ter)
c.5547del (p.Trp1849Ter)
c.5517del (p.Trp1839Ter)
n.2339del
c.5412del (p.Trp1804Ter)
c.5475del (p.Trp1825Ter)
c.5415del (p.Trp1805Ter)
c.5613del (p.Trp1871Ter)
c.5610del (p.Trp1870Ter)
 gnomAD v4
2g.71669136G>ACA347222734DYSFc.2985G>A (p.Trp995Ter)
c.2202G>A (p.Trp734Ter)
c.2310G>A (p.Trp770Ter)
c.5454G>A (p.Trp1818Ter)
c.5571G>A (p.Trp1857Ter)
c.5457G>A (p.Trp1819Ter)
c.5520G>A (p.Trp1840Ter)
c.5568G>A (p.Trp1856Ter)
c.5550G>A (p.Trp1850Ter)
c.5478G>A (p.Trp1826Ter)
c.5505G>A (p.Trp1835Ter)
c.5508G>A (p.Trp1836Ter)
c.5547G>A (p.Trp1849Ter)
c.5517G>A (p.Trp1839Ter)
n.2339G>A
c.5412G>A (p.Trp1804Ter)
c.5475G>A (p.Trp1825Ter)
c.5415G>A (p.Trp1805Ter)
c.5613G>A (p.Trp1871Ter)
c.5610G>A (p.Trp1870Ter)
 ClinVar dbSNP
2g.71669136G>CCA347222737DYSFc.2985G>C (p.Trp995Cys)
c.2202G>C (p.Trp734Cys)
c.2310G>C (p.Trp770Cys)
c.5454G>C (p.Trp1818Cys)
c.5571G>C (p.Trp1857Cys)
c.5457G>C (p.Trp1819Cys)
c.5520G>C (p.Trp1840Cys)
c.5568G>C (p.Trp1856Cys)
c.5550G>C (p.Trp1850Cys)
c.5478G>C (p.Trp1826Cys)
c.5505G>C (p.Trp1835Cys)
c.5508G>C (p.Trp1836Cys)
c.5547G>C (p.Trp1849Cys)
c.5517G>C (p.Trp1839Cys)
n.2339G>C
c.5412G>C (p.Trp1804Cys)
c.5475G>C (p.Trp1825Cys)
c.5415G>C (p.Trp1805Cys)
c.5613G>C (p.Trp1871Cys)
c.5610G>C (p.Trp1870Cys)
 ClinVar dbSNP
2g.71669136G=CA1260152189DYSFc.2985G= (p.Trp995=)
c.2202G= (p.Trp734=)
c.2310G= (p.Trp770=)
c.5454G= (p.Trp1818=)
c.5571G= (p.Trp1857=)
c.5457G= (p.Trp1819=)
c.5520G= (p.Trp1840=)
c.5568G= (p.Trp1856=)
c.5550G= (p.Trp1850=)
c.5478G= (p.Trp1826=)
c.5505G= (p.Trp1835=)
c.5508G= (p.Trp1836=)
c.5547G= (p.Trp1849=)
c.5517G= (p.Trp1839=)
n.2339G=
c.5412G= (p.Trp1804=)
c.5475G= (p.Trp1825=)
c.5415G= (p.Trp1805=)
c.5613G= (p.Trp1871=)
c.5610G= (p.Trp1870=)
2g.71669136G>TCA347222740DYSFc.2985G>T (p.Trp995Cys)
c.2202G>T (p.Trp734Cys)
c.2310G>T (p.Trp770Cys)
c.5454G>T (p.Trp1818Cys)
c.5571G>T (p.Trp1857Cys)
c.5457G>T (p.Trp1819Cys)
c.5520G>T (p.Trp1840Cys)
c.5568G>T (p.Trp1856Cys)
c.5550G>T (p.Trp1850Cys)
c.5478G>T (p.Trp1826Cys)
c.5505G>T (p.Trp1835Cys)
c.5508G>T (p.Trp1836Cys)
c.5547G>T (p.Trp1849Cys)
c.5517G>T (p.Trp1839Cys)
n.2339G>T
c.5412G>T (p.Trp1804Cys)
c.5475G>T (p.Trp1825Cys)
c.5415G>T (p.Trp1805Cys)
c.5613G>T (p.Trp1871Cys)
c.5610G>T (p.Trp1870Cys)
2g.71669137A>CCA347222742DYSFc.2986A>C (p.Asn996His)
c.2203A>C (p.Asn735His)
c.2311A>C (p.Asn771His)
c.5455A>C (p.Asn1819His)
c.5572A>C (p.Asn1858His)
c.5458A>C (p.Asn1820His)
c.5521A>C (p.Asn1841His)
c.5569A>C (p.Asn1857His)
c.5551A>C (p.Asn1851His)
c.5479A>C (p.Asn1827His)
c.5506A>C (p.Asn1836His)
c.5509A>C (p.Asn1837His)
c.5548A>C (p.Asn1850His)
c.5518A>C (p.Asn1840His)
n.2340A>C
c.5413A>C (p.Asn1805His)
c.5476A>C (p.Asn1826His)
c.5416A>C (p.Asn1806His)
c.5614A>C (p.Asn1872His)
c.5611A>C (p.Asn1871His)
2g.71669137A>GCA347222745DYSFc.2986A>G (p.Asn996Asp)
c.2203A>G (p.Asn735Asp)
c.2311A>G (p.Asn771Asp)
c.5455A>G (p.Asn1819Asp)
c.5572A>G (p.Asn1858Asp)
c.5458A>G (p.Asn1820Asp)
c.5521A>G (p.Asn1841Asp)
c.5569A>G (p.Asn1857Asp)
c.5551A>G (p.Asn1851Asp)
c.5479A>G (p.Asn1827Asp)
c.5506A>G (p.Asn1836Asp)
c.5509A>G (p.Asn1837Asp)
c.5548A>G (p.Asn1850Asp)
c.5518A>G (p.Asn1840Asp)
n.2340A>G
c.5413A>G (p.Asn1805Asp)
c.5476A>G (p.Asn1826Asp)
c.5416A>G (p.Asn1806Asp)
c.5614A>G (p.Asn1872Asp)
c.5611A>G (p.Asn1871Asp)
2g.71669137A>TCA347222747DYSFc.2986A>T (p.Asn996Tyr)
c.2203A>T (p.Asn735Tyr)
c.2311A>T (p.Asn771Tyr)
c.5455A>T (p.Asn1819Tyr)
c.5572A>T (p.Asn1858Tyr)
c.5458A>T (p.Asn1820Tyr)
c.5521A>T (p.Asn1841Tyr)
c.5569A>T (p.Asn1857Tyr)
c.5551A>T (p.Asn1851Tyr)
c.5479A>T (p.Asn1827Tyr)
c.5506A>T (p.Asn1836Tyr)
c.5509A>T (p.Asn1837Tyr)
c.5548A>T (p.Asn1850Tyr)
c.5518A>T (p.Asn1840Tyr)
n.2340A>T
c.5413A>T (p.Asn1805Tyr)
c.5476A>T (p.Asn1826Tyr)
c.5416A>T (p.Asn1806Tyr)
c.5614A>T (p.Asn1872Tyr)
c.5611A>T (p.Asn1871Tyr)
 ClinVar gnomAD v4
2g.71669138A=CA1260152190DYSFc.2987A= (p.Asn996=)
c.2204A= (p.Asn735=)
c.2312A= (p.Asn771=)
c.5456A= (p.Asn1819=)
c.5573A= (p.Asn1858=)
c.5459A= (p.Asn1820=)
c.5522A= (p.Asn1841=)
c.5570A= (p.Asn1857=)
c.5552A= (p.Asn1851=)
c.5480A= (p.Asn1827=)
c.5507A= (p.Asn1836=)
c.5510A= (p.Asn1837=)
c.5549A= (p.Asn1850=)
c.5519A= (p.Asn1840=)
n.2341A=
c.5414A= (p.Asn1805=)
c.5477A= (p.Asn1826=)
c.5417A= (p.Asn1806=)
c.5615A= (p.Asn1872=)
c.5612A= (p.Asn1871=)
2g.71669138A>CCA347222749DYSFc.2987A>C (p.Asn996Thr)
c.2204A>C (p.Asn735Thr)
c.2312A>C (p.Asn771Thr)
c.5456A>C (p.Asn1819Thr)
c.5573A>C (p.Asn1858Thr)
c.5459A>C (p.Asn1820Thr)
c.5522A>C (p.Asn1841Thr)
c.5570A>C (p.Asn1857Thr)
c.5552A>C (p.Asn1851Thr)
c.5480A>C (p.Asn1827Thr)
c.5507A>C (p.Asn1836Thr)
c.5510A>C (p.Asn1837Thr)
c.5549A>C (p.Asn1850Thr)
c.5519A>C (p.Asn1840Thr)
n.2341A>C
c.5414A>C (p.Asn1805Thr)
c.5477A>C (p.Asn1826Thr)
c.5417A>C (p.Asn1806Thr)
c.5615A>C (p.Asn1872Thr)
c.5612A>C (p.Asn1871Thr)
2g.71669138A>GCA347222755DYSFc.2987A>G (p.Asn996Ser)
c.2204A>G (p.Asn735Ser)
c.2312A>G (p.Asn771Ser)
c.5456A>G (p.Asn1819Ser)
c.5573A>G (p.Asn1858Ser)
c.5459A>G (p.Asn1820Ser)
c.5522A>G (p.Asn1841Ser)
c.5570A>G (p.Asn1857Ser)
c.5552A>G (p.Asn1851Ser)
c.5480A>G (p.Asn1827Ser)
c.5507A>G (p.Asn1836Ser)
c.5510A>G (p.Asn1837Ser)
c.5549A>G (p.Asn1850Ser)
c.5519A>G (p.Asn1840Ser)
n.2341A>G
c.5414A>G (p.Asn1805Ser)
c.5477A>G (p.Asn1826Ser)
c.5417A>G (p.Asn1806Ser)
c.5615A>G (p.Asn1872Ser)
c.5612A>G (p.Asn1871Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.71669138A>TCA347222753DYSFc.2987A>T (p.Asn996Ile)
c.2204A>T (p.Asn735Ile)
c.2312A>T (p.Asn771Ile)
c.5456A>T (p.Asn1819Ile)
c.5573A>T (p.Asn1858Ile)
c.5459A>T (p.Asn1820Ile)
c.5522A>T (p.Asn1841Ile)
c.5570A>T (p.Asn1857Ile)
c.5552A>T (p.Asn1851Ile)
c.5480A>T (p.Asn1827Ile)
c.5507A>T (p.Asn1836Ile)
c.5510A>T (p.Asn1837Ile)
c.5549A>T (p.Asn1850Ile)
c.5519A>T (p.Asn1840Ile)
n.2341A>T
c.5414A>T (p.Asn1805Ile)
c.5477A>T (p.Asn1826Ile)
c.5417A>T (p.Asn1806Ile)
c.5615A>T (p.Asn1872Ile)
c.5612A>T (p.Asn1871Ile)
2g.71669139T>ACA347222758DYSFc.2988T>A (p.Asn996Lys)
c.2205T>A (p.Asn735Lys)
c.2313T>A (p.Asn771Lys)
c.5457T>A (p.Asn1819Lys)
c.5574T>A (p.Asn1858Lys)
c.5460T>A (p.Asn1820Lys)
c.5523T>A (p.Asn1841Lys)
c.5571T>A (p.Asn1857Lys)
c.5553T>A (p.Asn1851Lys)
c.5481T>A (p.Asn1827Lys)
c.5508T>A (p.Asn1836Lys)
c.5511T>A (p.Asn1837Lys)
c.5550T>A (p.Asn1850Lys)
c.5520T>A (p.Asn1840Lys)
n.2342T>A
c.5415T>A (p.Asn1805Lys)
c.5478T>A (p.Asn1826Lys)
c.5418T>A (p.Asn1806Lys)
c.5616T>A (p.Asn1872Lys)
c.5613T>A (p.Asn1871Lys)
2g.71669139T>CCA426704395DYSFc.2988T>C (p.Asn996=)
c.2205T>C (p.Asn735=)
c.2313T>C (p.Asn771=)
c.5457T>C (p.Asn1819=)
c.5574T>C (p.Asn1858=)
c.5460T>C (p.Asn1820=)
c.5523T>C (p.Asn1841=)
c.5571T>C (p.Asn1857=)
c.5553T>C (p.Asn1851=)
c.5481T>C (p.Asn1827=)
c.5508T>C (p.Asn1836=)
c.5511T>C (p.Asn1837=)
c.5550T>C (p.Asn1850=)
c.5520T>C (p.Asn1840=)
n.2342T>C
c.5415T>C (p.Asn1805=)
c.5478T>C (p.Asn1826=)
c.5418T>C (p.Asn1806=)
c.5616T>C (p.Asn1872=)
c.5613T>C (p.Asn1871=)
2g.71669139T>GCA347222760DYSFc.2988T>G (p.Asn996Lys)
c.2205T>G (p.Asn735Lys)
c.2313T>G (p.Asn771Lys)
c.5457T>G (p.Asn1819Lys)
c.5574T>G (p.Asn1858Lys)
c.5460T>G (p.Asn1820Lys)
c.5523T>G (p.Asn1841Lys)
c.5571T>G (p.Asn1857Lys)
c.5553T>G (p.Asn1851Lys)
c.5481T>G (p.Asn1827Lys)
c.5508T>G (p.Asn1836Lys)
c.5511T>G (p.Asn1837Lys)
c.5550T>G (p.Asn1850Lys)
c.5520T>G (p.Asn1840Lys)
n.2342T>G
c.5415T>G (p.Asn1805Lys)
c.5478T>G (p.Asn1826Lys)
c.5418T>G (p.Asn1806Lys)
c.5616T>G (p.Asn1872Lys)
c.5613T>G (p.Asn1871Lys)
2g.71669140A>CCA347222763DYSFc.2989A>C (p.Thr997Pro)
c.2206A>C (p.Thr736Pro)
c.2314A>C (p.Thr772Pro)
c.5458A>C (p.Thr1820Pro)
c.5575A>C (p.Thr1859Pro)
c.5461A>C (p.Thr1821Pro)
c.5524A>C (p.Thr1842Pro)
c.5572A>C (p.Thr1858Pro)
c.5554A>C (p.Thr1852Pro)
c.5482A>C (p.Thr1828Pro)
c.5509A>C (p.Thr1837Pro)
c.5512A>C (p.Thr1838Pro)
c.5551A>C (p.Thr1851Pro)
c.5521A>C (p.Thr1841Pro)
n.2343A>C
c.5416A>C (p.Thr1806Pro)
c.5479A>C (p.Thr1827Pro)
c.5419A>C (p.Thr1807Pro)
c.5617A>C (p.Thr1873Pro)
c.5614A>C (p.Thr1872Pro)
2g.71669140A>GCA347222766DYSFc.2989A>G (p.Thr997Ala)
c.2206A>G (p.Thr736Ala)
c.2314A>G (p.Thr772Ala)
c.5458A>G (p.Thr1820Ala)
c.5575A>G (p.Thr1859Ala)
c.5461A>G (p.Thr1821Ala)
c.5524A>G (p.Thr1842Ala)
c.5572A>G (p.Thr1858Ala)
c.5554A>G (p.Thr1852Ala)
c.5482A>G (p.Thr1828Ala)
c.5509A>G (p.Thr1837Ala)
c.5512A>G (p.Thr1838Ala)
c.5551A>G (p.Thr1851Ala)
c.5521A>G (p.Thr1841Ala)
n.2343A>G
c.5416A>G (p.Thr1806Ala)
c.5479A>G (p.Thr1827Ala)
c.5419A>G (p.Thr1807Ala)
c.5617A>G (p.Thr1873Ala)
c.5614A>G (p.Thr1872Ala)
2g.71669140A>TCA347222767DYSFc.2989A>T (p.Thr997Ser)
c.2206A>T (p.Thr736Ser)
c.2314A>T (p.Thr772Ser)
c.5458A>T (p.Thr1820Ser)
c.5575A>T (p.Thr1859Ser)
c.5461A>T (p.Thr1821Ser)
c.5524A>T (p.Thr1842Ser)
c.5572A>T (p.Thr1858Ser)
c.5554A>T (p.Thr1852Ser)
c.5482A>T (p.Thr1828Ser)
c.5509A>T (p.Thr1837Ser)
c.5512A>T (p.Thr1838Ser)
c.5551A>T (p.Thr1851Ser)
c.5521A>T (p.Thr1841Ser)
n.2343A>T
c.5416A>T (p.Thr1806Ser)
c.5479A>T (p.Thr1827Ser)
c.5419A>T (p.Thr1807Ser)
c.5617A>T (p.Thr1873Ser)
c.5614A>T (p.Thr1872Ser)
2g.71669141C>ACA347222770DYSFc.2990C>A (p.Thr997Asn)
c.2207C>A (p.Thr736Asn)
c.2315C>A (p.Thr772Asn)
c.5459C>A (p.Thr1820Asn)
c.5576C>A (p.Thr1859Asn)
c.5462C>A (p.Thr1821Asn)
c.5525C>A (p.Thr1842Asn)
c.5573C>A (p.Thr1858Asn)
c.5555C>A (p.Thr1852Asn)
c.5483C>A (p.Thr1828Asn)
c.5510C>A (p.Thr1837Asn)
c.5513C>A (p.Thr1838Asn)
c.5552C>A (p.Thr1851Asn)
c.5522C>A (p.Thr1841Asn)
n.2344C>A
c.5417C>A (p.Thr1806Asn)
c.5480C>A (p.Thr1827Asn)
c.5420C>A (p.Thr1807Asn)
c.5618C>A (p.Thr1873Asn)
c.5615C>A (p.Thr1872Asn)
2g.71669141C=CA1260152191DYSFc.2990C= (p.Thr997=)
c.2207C= (p.Thr736=)
c.2315C= (p.Thr772=)
c.5459C= (p.Thr1820=)
c.5576C= (p.Thr1859=)
c.5462C= (p.Thr1821=)
c.5525C= (p.Thr1842=)
c.5573C= (p.Thr1858=)
c.5555C= (p.Thr1852=)
c.5483C= (p.Thr1828=)
c.5510C= (p.Thr1837=)
c.5513C= (p.Thr1838=)
c.5552C= (p.Thr1851=)
c.5522C= (p.Thr1841=)
n.2344C=
c.5417C= (p.Thr1806=)
c.5480C= (p.Thr1827=)
c.5420C= (p.Thr1807=)
c.5618C= (p.Thr1873=)
c.5615C= (p.Thr1872=)
2g.71669141C>GCA347222772DYSFc.2990C>G (p.Thr997Ser)
c.2207C>G (p.Thr736Ser)
c.2315C>G (p.Thr772Ser)
c.5459C>G (p.Thr1820Ser)
c.5576C>G (p.Thr1859Ser)
c.5462C>G (p.Thr1821Ser)
c.5525C>G (p.Thr1842Ser)
c.5573C>G (p.Thr1858Ser)
c.5555C>G (p.Thr1852Ser)
c.5483C>G (p.Thr1828Ser)
c.5510C>G (p.Thr1837Ser)
c.5513C>G (p.Thr1838Ser)
c.5552C>G (p.Thr1851Ser)
c.5522C>G (p.Thr1841Ser)
n.2344C>G
c.5417C>G (p.Thr1806Ser)
c.5480C>G (p.Thr1827Ser)
c.5420C>G (p.Thr1807Ser)
c.5618C>G (p.Thr1873Ser)
c.5615C>G (p.Thr1872Ser)
 dbSNP gnomAD v2
2g.71669141C>TCA347222775DYSFc.2990C>T (p.Thr997Ile)
c.2207C>T (p.Thr736Ile)
c.2315C>T (p.Thr772Ile)
c.5459C>T (p.Thr1820Ile)
c.5576C>T (p.Thr1859Ile)
c.5462C>T (p.Thr1821Ile)
c.5525C>T (p.Thr1842Ile)
c.5573C>T (p.Thr1858Ile)
c.5555C>T (p.Thr1852Ile)
c.5483C>T (p.Thr1828Ile)
c.5510C>T (p.Thr1837Ile)
c.5513C>T (p.Thr1838Ile)
c.5552C>T (p.Thr1851Ile)
c.5522C>T (p.Thr1841Ile)
n.2344C>T
c.5417C>T (p.Thr1806Ile)
c.5480C>T (p.Thr1827Ile)
c.5420C>T (p.Thr1807Ile)
c.5618C>T (p.Thr1873Ile)
c.5615C>T (p.Thr1872Ile)
2g.71669142C>ACA426704399DYSFc.2991C>A (p.Thr997=)
c.2208C>A (p.Thr736=)
c.2316C>A (p.Thr772=)
c.5460C>A (p.Thr1820=)
c.5577C>A (p.Thr1859=)
c.5463C>A (p.Thr1821=)
c.5526C>A (p.Thr1842=)
c.5574C>A (p.Thr1858=)
c.5556C>A (p.Thr1852=)
c.5484C>A (p.Thr1828=)
c.5511C>A (p.Thr1837=)
c.5514C>A (p.Thr1838=)
c.5553C>A (p.Thr1851=)
c.5523C>A (p.Thr1841=)
n.2345C>A
c.5418C>A (p.Thr1806=)
c.5481C>A (p.Thr1827=)
c.5421C>A (p.Thr1807=)
c.5619C>A (p.Thr1873=)
c.5616C>A (p.Thr1872=)
2g.71669142C>GCA426704400DYSFc.2991C>G (p.Thr997=)
c.2208C>G (p.Thr736=)
c.2316C>G (p.Thr772=)
c.5460C>G (p.Thr1820=)
c.5577C>G (p.Thr1859=)
c.5463C>G (p.Thr1821=)
c.5526C>G (p.Thr1842=)
c.5574C>G (p.Thr1858=)
c.5556C>G (p.Thr1852=)
c.5484C>G (p.Thr1828=)
c.5511C>G (p.Thr1837=)
c.5514C>G (p.Thr1838=)
c.5553C>G (p.Thr1851=)
c.5523C>G (p.Thr1841=)
n.2345C>G
c.5418C>G (p.Thr1806=)
c.5481C>G (p.Thr1827=)
c.5421C>G (p.Thr1807=)
c.5619C>G (p.Thr1873=)
c.5616C>G (p.Thr1872=)
2g.71669142C>TCA426704401DYSFc.2991C>T (p.Thr997=)
c.2208C>T (p.Thr736=)
c.2316C>T (p.Thr772=)
c.5460C>T (p.Thr1820=)
c.5577C>T (p.Thr1859=)
c.5463C>T (p.Thr1821=)
c.5526C>T (p.Thr1842=)
c.5574C>T (p.Thr1858=)
c.5556C>T (p.Thr1852=)
c.5484C>T (p.Thr1828=)
c.5511C>T (p.Thr1837=)
c.5514C>T (p.Thr1838=)
c.5553C>T (p.Thr1851=)
c.5523C>T (p.Thr1841=)
n.2345C>T
c.5418C>T (p.Thr1806=)
c.5481C>T (p.Thr1827=)
c.5421C>T (p.Thr1807=)
c.5619C>T (p.Thr1873=)
c.5616C>T (p.Thr1872=)
2g.71669143A>CCA426704402DYSFc.2992A>C (p.Arg998=)
c.2209A>C (p.Arg737=)
c.2317A>C (p.Arg773=)
c.5461A>C (p.Arg1821=)
c.5578A>C (p.Arg1860=)
c.5464A>C (p.Arg1822=)
c.5527A>C (p.Arg1843=)
c.5575A>C (p.Arg1859=)
c.5557A>C (p.Arg1853=)
c.5485A>C (p.Arg1829=)
c.5512A>C (p.Arg1838=)
c.5515A>C (p.Arg1839=)
c.5554A>C (p.Arg1852=)
c.5524A>C (p.Arg1842=)
n.2346A>C
c.5419A>C (p.Arg1807=)
c.5482A>C (p.Arg1828=)
c.5422A>C (p.Arg1808=)
c.5620A>C (p.Arg1874=)
c.5617A>C (p.Arg1873=)
2g.71669143A>GCA347222790DYSFc.2992A>G (p.Arg998Gly)
c.2209A>G (p.Arg737Gly)
c.2317A>G (p.Arg773Gly)
c.5461A>G (p.Arg1821Gly)
c.5578A>G (p.Arg1860Gly)
c.5464A>G (p.Arg1822Gly)
c.5527A>G (p.Arg1843Gly)
c.5575A>G (p.Arg1859Gly)
c.5557A>G (p.Arg1853Gly)
c.5485A>G (p.Arg1829Gly)
c.5512A>G (p.Arg1838Gly)
c.5515A>G (p.Arg1839Gly)
c.5554A>G (p.Arg1852Gly)
c.5524A>G (p.Arg1842Gly)
n.2346A>G
c.5419A>G (p.Arg1807Gly)
c.5482A>G (p.Arg1828Gly)
c.5422A>G (p.Arg1808Gly)
c.5620A>G (p.Arg1874Gly)
c.5617A>G (p.Arg1873Gly)
2g.71669143A>TCA347222793DYSFc.2992A>T (p.Arg998Ter)
c.2209A>T (p.Arg737Ter)
c.2317A>T (p.Arg773Ter)
c.5461A>T (p.Arg1821Ter)
c.5578A>T (p.Arg1860Ter)
c.5464A>T (p.Arg1822Ter)
c.5527A>T (p.Arg1843Ter)
c.5575A>T (p.Arg1859Ter)
c.5557A>T (p.Arg1853Ter)
c.5485A>T (p.Arg1829Ter)
c.5512A>T (p.Arg1838Ter)
c.5515A>T (p.Arg1839Ter)
c.5554A>T (p.Arg1852Ter)
c.5524A>T (p.Arg1842Ter)
n.2346A>T
c.5419A>T (p.Arg1807Ter)
c.5482A>T (p.Arg1828Ter)
c.5422A>T (p.Arg1808Ter)
c.5620A>T (p.Arg1874Ter)
c.5617A>T (p.Arg1873Ter)
 ClinVar dbSNP
2g.71669144G>ACA347222801DYSFc.2993G>A (p.Arg998Lys)
c.2210G>A (p.Arg737Lys)
c.2318G>A (p.Arg773Lys)
c.5462G>A (p.Arg1821Lys)
c.5579G>A (p.Arg1860Lys)
c.5465G>A (p.Arg1822Lys)
c.5528G>A (p.Arg1843Lys)
c.5576G>A (p.Arg1859Lys)
c.5558G>A (p.Arg1853Lys)
c.5486G>A (p.Arg1829Lys)
c.5513G>A (p.Arg1838Lys)
c.5516G>A (p.Arg1839Lys)
c.5555G>A (p.Arg1852Lys)
c.5525G>A (p.Arg1842Lys)
n.2347G>A
c.5420G>A (p.Arg1807Lys)
c.5483G>A (p.Arg1828Lys)
c.5423G>A (p.Arg1808Lys)
c.5621G>A (p.Arg1874Lys)
c.5618G>A (p.Arg1873Lys)
2g.71669144G>CCA347222799DYSFc.2993G>C (p.Arg998Thr)
c.2210G>C (p.Arg737Thr)
c.2318G>C (p.Arg773Thr)
c.5462G>C (p.Arg1821Thr)
c.5579G>C (p.Arg1860Thr)
c.5465G>C (p.Arg1822Thr)
c.5528G>C (p.Arg1843Thr)
c.5576G>C (p.Arg1859Thr)
c.5558G>C (p.Arg1853Thr)
c.5486G>C (p.Arg1829Thr)
c.5513G>C (p.Arg1838Thr)
c.5516G>C (p.Arg1839Thr)
c.5555G>C (p.Arg1852Thr)
c.5525G>C (p.Arg1842Thr)
n.2347G>C
c.5420G>C (p.Arg1807Thr)
c.5483G>C (p.Arg1828Thr)
c.5423G>C (p.Arg1808Thr)
c.5621G>C (p.Arg1874Thr)
c.5618G>C (p.Arg1873Thr)
2g.71669144G>TCA347222797DYSFc.2993G>T (p.Arg998Ile)
c.2210G>T (p.Arg737Ile)
c.2318G>T (p.Arg773Ile)
c.5462G>T (p.Arg1821Ile)
c.5579G>T (p.Arg1860Ile)
c.5465G>T (p.Arg1822Ile)
c.5528G>T (p.Arg1843Ile)
c.5576G>T (p.Arg1859Ile)
c.5558G>T (p.Arg1853Ile)
c.5486G>T (p.Arg1829Ile)
c.5513G>T (p.Arg1838Ile)
c.5516G>T (p.Arg1839Ile)
c.5555G>T (p.Arg1852Ile)
c.5525G>T (p.Arg1842Ile)
n.2347G>T
c.5420G>T (p.Arg1807Ile)
c.5483G>T (p.Arg1828Ile)
c.5423G>T (p.Arg1808Ile)
c.5621G>T (p.Arg1874Ile)
c.5618G>T (p.Arg1873Ile)
 COSMIC COSMIC
2g.71669145A>CCA347222804DYSFc.2994A>C (p.Arg998Ser)
c.2211A>C (p.Arg737Ser)
c.2319A>C (p.Arg773Ser)
c.5463A>C (p.Arg1821Ser)
c.5580A>C (p.Arg1860Ser)
c.5466A>C (p.Arg1822Ser)
c.5529A>C (p.Arg1843Ser)
c.5577A>C (p.Arg1859Ser)
c.5559A>C (p.Arg1853Ser)
c.5487A>C (p.Arg1829Ser)
c.5514A>C (p.Arg1838Ser)
c.5517A>C (p.Arg1839Ser)
c.5556A>C (p.Arg1852Ser)
c.5526A>C (p.Arg1842Ser)
n.2348A>C
c.5421A>C (p.Arg1807Ser)
c.5484A>C (p.Arg1828Ser)
c.5424A>C (p.Arg1808Ser)
c.5622A>C (p.Arg1874Ser)
c.5619A>C (p.Arg1873Ser)
2g.71669145A>GCA426704406DYSFc.2994A>G (p.Arg998=)
c.2211A>G (p.Arg737=)
c.2319A>G (p.Arg773=)
c.5463A>G (p.Arg1821=)
c.5580A>G (p.Arg1860=)
c.5466A>G (p.Arg1822=)
c.5529A>G (p.Arg1843=)
c.5577A>G (p.Arg1859=)
c.5559A>G (p.Arg1853=)
c.5487A>G (p.Arg1829=)
c.5514A>G (p.Arg1838=)
c.5517A>G (p.Arg1839=)
c.5556A>G (p.Arg1852=)
c.5526A>G (p.Arg1842=)
n.2348A>G
c.5421A>G (p.Arg1807=)
c.5484A>G (p.Arg1828=)
c.5424A>G (p.Arg1808=)
c.5622A>G (p.Arg1874=)
c.5619A>G (p.Arg1873=)
2g.71669145A>TCA347222806DYSFc.2994A>T (p.Arg998Ser)
c.2211A>T (p.Arg737Ser)
c.2319A>T (p.Arg773Ser)
c.5463A>T (p.Arg1821Ser)
c.5580A>T (p.Arg1860Ser)
c.5466A>T (p.Arg1822Ser)
c.5529A>T (p.Arg1843Ser)
c.5577A>T (p.Arg1859Ser)
c.5559A>T (p.Arg1853Ser)
c.5487A>T (p.Arg1829Ser)
c.5514A>T (p.Arg1838Ser)
c.5517A>T (p.Arg1839Ser)
c.5556A>T (p.Arg1852Ser)
c.5526A>T (p.Arg1842Ser)
n.2348A>T
c.5421A>T (p.Arg1807Ser)
c.5484A>T (p.Arg1828Ser)
c.5424A>T (p.Arg1808Ser)
c.5622A>T (p.Arg1874Ser)
c.5619A>T (p.Arg1873Ser)
 COSMIC COSMIC
2g.71669146G>ACA347222808DYSFc.2995G>A (p.Asp999Asn)
c.2212G>A (p.Asp738Asn)
c.2320G>A (p.Asp774Asn)
c.5464G>A (p.Asp1822Asn)
c.5581G>A (p.Asp1861Asn)
c.5467G>A (p.Asp1823Asn)
c.5530G>A (p.Asp1844Asn)
c.5578G>A (p.Asp1860Asn)
c.5560G>A (p.Asp1854Asn)
c.5488G>A (p.Asp1830Asn)
c.5515G>A (p.Asp1839Asn)
c.5518G>A (p.Asp1840Asn)
c.5557G>A (p.Asp1853Asn)
c.5527G>A (p.Asp1843Asn)
n.2349G>A
c.5422G>A (p.Asp1808Asn)
c.5485G>A (p.Asp1829Asn)
c.5425G>A (p.Asp1809Asn)
c.5623G>A (p.Asp1875Asn)
c.5620G>A (p.Asp1874Asn)
2g.71669146G>CCA347222810DYSFc.2995G>C (p.Asp999His)
c.2212G>C (p.Asp738His)
c.2320G>C (p.Asp774His)
c.5464G>C (p.Asp1822His)
c.5581G>C (p.Asp1861His)
c.5467G>C (p.Asp1823His)
c.5530G>C (p.Asp1844His)
c.5578G>C (p.Asp1860His)
c.5560G>C (p.Asp1854His)
c.5488G>C (p.Asp1830His)
c.5515G>C (p.Asp1839His)
c.5518G>C (p.Asp1840His)
c.5557G>C (p.Asp1853His)
c.5527G>C (p.Asp1843His)
n.2349G>C
c.5422G>C (p.Asp1808His)
c.5485G>C (p.Asp1829His)
c.5425G>C (p.Asp1809His)
c.5623G>C (p.Asp1875His)
c.5620G>C (p.Asp1874His)
2g.71669146G>TCA347222813DYSFc.2995G>T (p.Asp999Tyr)
c.2212G>T (p.Asp738Tyr)
c.2320G>T (p.Asp774Tyr)
c.5464G>T (p.Asp1822Tyr)
c.5581G>T (p.Asp1861Tyr)
c.5467G>T (p.Asp1823Tyr)
c.5530G>T (p.Asp1844Tyr)
c.5578G>T (p.Asp1860Tyr)
c.5560G>T (p.Asp1854Tyr)
c.5488G>T (p.Asp1830Tyr)
c.5515G>T (p.Asp1839Tyr)
c.5518G>T (p.Asp1840Tyr)
c.5557G>T (p.Asp1853Tyr)
c.5527G>T (p.Asp1843Tyr)
n.2349G>T
c.5422G>T (p.Asp1808Tyr)
c.5485G>T (p.Asp1829Tyr)
c.5425G>T (p.Asp1809Tyr)
c.5623G>T (p.Asp1875Tyr)
c.5620G>T (p.Asp1874Tyr)
 gnomAD v4
2g.71669147A=CA1260152192DYSFc.2996A= (p.Asp999=)
c.2213A= (p.Asp738=)
c.2321A= (p.Asp774=)
c.5465A= (p.Asp1822=)
c.5582A= (p.Asp1861=)
c.5468A= (p.Asp1823=)
c.5531A= (p.Asp1844=)
c.5579A= (p.Asp1860=)
c.5561A= (p.Asp1854=)
c.5489A= (p.Asp1830=)
c.5516A= (p.Asp1839=)
c.5519A= (p.Asp1840=)
c.5558A= (p.Asp1853=)
c.5528A= (p.Asp1843=)
n.2350A=
c.5423A= (p.Asp1808=)
c.5486A= (p.Asp1829=)
c.5426A= (p.Asp1809=)
c.5624A= (p.Asp1875=)
c.5621A= (p.Asp1874=)
2g.71669147A>CCA347222820DYSFc.2996A>C (p.Asp999Ala)
c.2213A>C (p.Asp738Ala)
c.2321A>C (p.Asp774Ala)
c.5465A>C (p.Asp1822Ala)
c.5582A>C (p.Asp1861Ala)
c.5468A>C (p.Asp1823Ala)
c.5531A>C (p.Asp1844Ala)
c.5579A>C (p.Asp1860Ala)
c.5561A>C (p.Asp1854Ala)
c.5489A>C (p.Asp1830Ala)
c.5516A>C (p.Asp1839Ala)
c.5519A>C (p.Asp1840Ala)
c.5558A>C (p.Asp1853Ala)
c.5528A>C (p.Asp1843Ala)
n.2350A>C
c.5423A>C (p.Asp1808Ala)
c.5486A>C (p.Asp1829Ala)
c.5426A>C (p.Asp1809Ala)
c.5624A>C (p.Asp1875Ala)
c.5621A>C (p.Asp1874Ala)
2g.71669147A>GCA347222818DYSFc.2996A>G (p.Asp999Gly)
c.2213A>G (p.Asp738Gly)
c.2321A>G (p.Asp774Gly)
c.5465A>G (p.Asp1822Gly)
c.5582A>G (p.Asp1861Gly)
c.5468A>G (p.Asp1823Gly)
c.5531A>G (p.Asp1844Gly)
c.5579A>G (p.Asp1860Gly)
c.5561A>G (p.Asp1854Gly)
c.5489A>G (p.Asp1830Gly)
c.5516A>G (p.Asp1839Gly)
c.5519A>G (p.Asp1840Gly)
c.5558A>G (p.Asp1853Gly)
c.5528A>G (p.Asp1843Gly)
n.2350A>G
c.5423A>G (p.Asp1808Gly)
c.5486A>G (p.Asp1829Gly)
c.5426A>G (p.Asp1809Gly)
c.5624A>G (p.Asp1875Gly)
c.5621A>G (p.Asp1874Gly)
 gnomAD v4
2g.71669147A>TCA347222817DYSFc.2996A>T (p.Asp999Val)
c.2213A>T (p.Asp738Val)
c.2321A>T (p.Asp774Val)
c.5465A>T (p.Asp1822Val)
c.5582A>T (p.Asp1861Val)
c.5468A>T (p.Asp1823Val)
c.5531A>T (p.Asp1844Val)
c.5579A>T (p.Asp1860Val)
c.5561A>T (p.Asp1854Val)
c.5489A>T (p.Asp1830Val)
c.5516A>T (p.Asp1839Val)
c.5519A>T (p.Asp1840Val)
c.5558A>T (p.Asp1853Val)
c.5528A>T (p.Asp1843Val)
n.2350A>T
c.5423A>T (p.Asp1808Val)
c.5486A>T (p.Asp1829Val)
c.5426A>T (p.Asp1809Val)
c.5624A>T (p.Asp1875Val)
c.5621A>T (p.Asp1874Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71669148T>ACA347222821DYSFc.2997T>A (p.Asp999Glu)
c.2214T>A (p.Asp738Glu)
c.2322T>A (p.Asp774Glu)
c.5466T>A (p.Asp1822Glu)
c.5583T>A (p.Asp1861Glu)
c.5469T>A (p.Asp1823Glu)
c.5532T>A (p.Asp1844Glu)
c.5580T>A (p.Asp1860Glu)
c.5562T>A (p.Asp1854Glu)
c.5490T>A (p.Asp1830Glu)
c.5517T>A (p.Asp1839Glu)
c.5520T>A (p.Asp1840Glu)
c.5559T>A (p.Asp1853Glu)
c.5529T>A (p.Asp1843Glu)
n.2351T>A
c.5424T>A (p.Asp1808Glu)
c.5487T>A (p.Asp1829Glu)
c.5427T>A (p.Asp1809Glu)
c.5625T>A (p.Asp1875Glu)
c.5622T>A (p.Asp1874Glu)
2g.71669148T>CCA1707435DYSFc.2997T>C (p.Asp999=)
c.2214T>C (p.Asp738=)
c.2322T>C (p.Asp774=)
c.5466T>C (p.Asp1822=)
c.5583T>C (p.Asp1861=)
c.5469T>C (p.Asp1823=)
c.5532T>C (p.Asp1844=)
c.5580T>C (p.Asp1860=)
c.5562T>C (p.Asp1854=)
c.5490T>C (p.Asp1830=)
c.5517T>C (p.Asp1839=)
c.5520T>C (p.Asp1840=)
c.5559T>C (p.Asp1853=)
c.5529T>C (p.Asp1843=)
n.2351T>C
c.5424T>C (p.Asp1808=)
c.5487T>C (p.Asp1829=)
c.5427T>C (p.Asp1809=)
c.5625T>C (p.Asp1875=)
c.5622T>C (p.Asp1874=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71669148T>GCA347222827DYSFc.2997T>G (p.Asp999Glu)
c.2214T>G (p.Asp738Glu)
c.2322T>G (p.Asp774Glu)
c.5466T>G (p.Asp1822Glu)
c.5583T>G (p.Asp1861Glu)
c.5469T>G (p.Asp1823Glu)
c.5532T>G (p.Asp1844Glu)
c.5580T>G (p.Asp1860Glu)
c.5562T>G (p.Asp1854Glu)
c.5490T>G (p.Asp1830Glu)
c.5517T>G (p.Asp1839Glu)
c.5520T>G (p.Asp1840Glu)
c.5559T>G (p.Asp1853Glu)
c.5529T>G (p.Asp1843Glu)
n.2351T>G
c.5424T>G (p.Asp1808Glu)
c.5487T>G (p.Asp1829Glu)
c.5427T>G (p.Asp1809Glu)
c.5625T>G (p.Asp1875Glu)
c.5622T>G (p.Asp1874Glu)
2g.71669148T=CA1260152193DYSFc.2997T= (p.Asp999=)
c.2214T= (p.Asp738=)
c.2322T= (p.Asp774=)
c.5466T= (p.Asp1822=)
c.5583T= (p.Asp1861=)
c.5469T= (p.Asp1823=)
c.5532T= (p.Asp1844=)
c.5580T= (p.Asp1860=)
c.5562T= (p.Asp1854=)
c.5490T= (p.Asp1830=)
c.5517T= (p.Asp1839=)
c.5520T= (p.Asp1840=)
c.5559T= (p.Asp1853=)
c.5529T= (p.Asp1843=)
n.2351T=
c.5424T= (p.Asp1808=)
c.5487T= (p.Asp1829=)
c.5427T= (p.Asp1809=)
c.5625T= (p.Asp1875=)
c.5622T= (p.Asp1874=)
2g.71669149G>ACA347222831DYSFc.2998G>A (p.Val1000Met)
c.2215G>A (p.Val739Met)
c.2323G>A (p.Val775Met)
c.5467G>A (p.Val1823Met)
c.5584G>A (p.Val1862Met)
c.5470G>A (p.Val1824Met)
c.5533G>A (p.Val1845Met)
c.5581G>A (p.Val1861Met)
c.5563G>A (p.Val1855Met)
c.5491G>A (p.Val1831Met)
c.5518G>A (p.Val1840Met)
c.5521G>A (p.Val1841Met)
c.5560G>A (p.Val1854Met)
c.5530G>A (p.Val1844Met)
n.2352G>A
c.5425G>A (p.Val1809Met)
c.5488G>A (p.Val1830Met)
c.5428G>A (p.Val1810Met)
c.5626G>A (p.Val1876Met)
c.5623G>A (p.Val1875Met)
 gnomAD v4
2g.71669149G>CCA347222834DYSFc.2998G>C (p.Val1000Leu)
c.2215G>C (p.Val739Leu)
c.2323G>C (p.Val775Leu)
c.5467G>C (p.Val1823Leu)
c.5584G>C (p.Val1862Leu)
c.5470G>C (p.Val1824Leu)
c.5533G>C (p.Val1845Leu)
c.5581G>C (p.Val1861Leu)
c.5563G>C (p.Val1855Leu)
c.5491G>C (p.Val1831Leu)
c.5518G>C (p.Val1840Leu)
c.5521G>C (p.Val1841Leu)
c.5560G>C (p.Val1854Leu)
c.5530G>C (p.Val1844Leu)
n.2352G>C
c.5425G>C (p.Val1809Leu)
c.5488G>C (p.Val1830Leu)
c.5428G>C (p.Val1810Leu)
c.5626G>C (p.Val1876Leu)
c.5623G>C (p.Val1875Leu)
2g.71669149G>TCA347222835DYSFc.2998G>T (p.Val1000Leu)
c.2215G>T (p.Val739Leu)
c.2323G>T (p.Val775Leu)
c.5467G>T (p.Val1823Leu)
c.5584G>T (p.Val1862Leu)
c.5470G>T (p.Val1824Leu)
c.5533G>T (p.Val1845Leu)
c.5581G>T (p.Val1861Leu)
c.5563G>T (p.Val1855Leu)
c.5491G>T (p.Val1831Leu)
c.5518G>T (p.Val1840Leu)
c.5521G>T (p.Val1841Leu)
c.5560G>T (p.Val1854Leu)
c.5530G>T (p.Val1844Leu)
n.2352G>T
c.5425G>T (p.Val1809Leu)
c.5488G>T (p.Val1830Leu)
c.5428G>T (p.Val1810Leu)
c.5626G>T (p.Val1876Leu)
c.5623G>T (p.Val1875Leu)
2g.71669150T>ACA10605398DYSFc.2999T>A (p.Val1000Glu)
c.2216T>A (p.Val739Glu)
c.2324T>A (p.Val775Glu)
c.5468T>A (p.Val1823Glu)
c.5585T>A (p.Val1862Glu)
c.5471T>A (p.Val1824Glu)
c.5534T>A (p.Val1845Glu)
c.5582T>A (p.Val1861Glu)
c.5564T>A (p.Val1855Glu)
c.5492T>A (p.Val1831Glu)
c.5519T>A (p.Val1840Glu)
c.5522T>A (p.Val1841Glu)
c.5561T>A (p.Val1854Glu)
c.5531T>A (p.Val1844Glu)
n.2353T>A
c.5426T>A (p.Val1809Glu)
c.5489T>A (p.Val1830Glu)
c.5429T>A (p.Val1810Glu)
c.5627T>A (p.Val1876Glu)
c.5624T>A (p.Val1875Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71669150T>CCA347222843DYSFc.2999T>C (p.Val1000Ala)
c.2216T>C (p.Val739Ala)
c.2324T>C (p.Val775Ala)
c.5468T>C (p.Val1823Ala)
c.5585T>C (p.Val1862Ala)
c.5471T>C (p.Val1824Ala)
c.5534T>C (p.Val1845Ala)
c.5582T>C (p.Val1861Ala)
c.5564T>C (p.Val1855Ala)
c.5492T>C (p.Val1831Ala)
c.5519T>C (p.Val1840Ala)
c.5522T>C (p.Val1841Ala)
c.5561T>C (p.Val1854Ala)
c.5531T>C (p.Val1844Ala)
n.2353T>C
c.5426T>C (p.Val1809Ala)
c.5489T>C (p.Val1830Ala)
c.5429T>C (p.Val1810Ala)
c.5627T>C (p.Val1876Ala)
c.5624T>C (p.Val1875Ala)
 ClinVar dbSNP gnomAD v4
2g.71669150T>GCA347222841DYSFc.2999T>G (p.Val1000Gly)
c.2216T>G (p.Val739Gly)
c.2324T>G (p.Val775Gly)
c.5468T>G (p.Val1823Gly)
c.5585T>G (p.Val1862Gly)
c.5471T>G (p.Val1824Gly)
c.5534T>G (p.Val1845Gly)
c.5582T>G (p.Val1861Gly)
c.5564T>G (p.Val1855Gly)
c.5492T>G (p.Val1831Gly)
c.5519T>G (p.Val1840Gly)
c.5522T>G (p.Val1841Gly)
c.5561T>G (p.Val1854Gly)
c.5531T>G (p.Val1844Gly)
n.2353T>G
c.5426T>G (p.Val1809Gly)
c.5489T>G (p.Val1830Gly)
c.5429T>G (p.Val1810Gly)
c.5627T>G (p.Val1876Gly)
c.5624T>G (p.Val1875Gly)
 ClinVar
2g.71669150T=CA1260152194DYSFc.2999T= (p.Val1000=)
c.2216T= (p.Val739=)
c.2324T= (p.Val775=)
c.5468T= (p.Val1823=)
c.5585T= (p.Val1862=)
c.5471T= (p.Val1824=)
c.5534T= (p.Val1845=)
c.5582T= (p.Val1861=)
c.5564T= (p.Val1855=)
c.5492T= (p.Val1831=)
c.5519T= (p.Val1840=)
c.5522T= (p.Val1841=)
c.5561T= (p.Val1854=)
c.5531T= (p.Val1844=)
n.2353T=
c.5426T= (p.Val1809=)
c.5489T= (p.Val1830=)
c.5429T= (p.Val1810=)
c.5627T= (p.Val1876=)
c.5624T= (p.Val1875=)
2g.71669151G>ACA426704410DYSFc.3000G>A (p.Val1000=)
c.2217G>A (p.Val739=)
c.2325G>A (p.Val775=)
c.5469G>A (p.Val1823=)
c.5586G>A (p.Val1862=)
c.5472G>A (p.Val1824=)
c.5535G>A (p.Val1845=)
c.5583G>A (p.Val1861=)
c.5565G>A (p.Val1855=)
c.5493G>A (p.Val1831=)
c.5520G>A (p.Val1840=)
c.5523G>A (p.Val1841=)
c.5562G>A (p.Val1854=)
c.5532G>A (p.Val1844=)
n.2354G>A
c.5427G>A (p.Val1809=)
c.5490G>A (p.Val1830=)
c.5430G>A (p.Val1810=)
c.5628G>A (p.Val1876=)
c.5625G>A (p.Val1875=)
 COSMIC COSMIC
2g.71669151G>CCA1707436DYSFc.3000G>C (p.Val1000=)
c.2217G>C (p.Val739=)
c.2325G>C (p.Val775=)
c.5469G>C (p.Val1823=)
c.5586G>C (p.Val1862=)
c.5472G>C (p.Val1824=)
c.5535G>C (p.Val1845=)
c.5583G>C (p.Val1861=)
c.5565G>C (p.Val1855=)
c.5493G>C (p.Val1831=)
c.5520G>C (p.Val1840=)
c.5523G>C (p.Val1841=)
c.5562G>C (p.Val1854=)
c.5532G>C (p.Val1844=)
n.2354G>C
c.5427G>C (p.Val1809=)
c.5490G>C (p.Val1830=)
c.5430G>C (p.Val1810=)
c.5628G>C (p.Val1876=)
c.5625G>C (p.Val1875=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71669151G=CA1260152195DYSFc.3000G= (p.Val1000=)
c.2217G= (p.Val739=)
c.2325G= (p.Val775=)
c.5469G= (p.Val1823=)
c.5586G= (p.Val1862=)
c.5472G= (p.Val1824=)
c.5535G= (p.Val1845=)
c.5583G= (p.Val1861=)
c.5565G= (p.Val1855=)
c.5493G= (p.Val1831=)
c.5520G= (p.Val1840=)
c.5523G= (p.Val1841=)
c.5562G= (p.Val1854=)
c.5532G= (p.Val1844=)
n.2354G=
c.5427G= (p.Val1809=)
c.5490G= (p.Val1830=)
c.5430G= (p.Val1810=)
c.5628G= (p.Val1876=)
c.5625G= (p.Val1875=)
2g.71669151G>TCA426704411DYSFc.3000G>T (p.Val1000=)
c.2217G>T (p.Val739=)
c.2325G>T (p.Val775=)
c.5469G>T (p.Val1823=)
c.5586G>T (p.Val1862=)
c.5472G>T (p.Val1824=)
c.5535G>T (p.Val1845=)
c.5583G>T (p.Val1861=)
c.5565G>T (p.Val1855=)
c.5493G>T (p.Val1831=)
c.5520G>T (p.Val1840=)
c.5523G>T (p.Val1841=)
c.5562G>T (p.Val1854=)
c.5532G>T (p.Val1844=)
n.2354G>T
c.5427G>T (p.Val1809=)
c.5490G>T (p.Val1830=)
c.5430G>T (p.Val1810=)
c.5628G>T (p.Val1876=)
c.5625G>T (p.Val1875=)
2g.71669152A=CA1260152196DYSFc.3001A= (p.Ile1001=)
c.2218A= (p.Ile740=)
c.2326A= (p.Ile776=)
c.5470A= (p.Ile1824=)
c.5587A= (p.Ile1863=)
c.5473A= (p.Ile1825=)
c.5536A= (p.Ile1846=)
c.5584A= (p.Ile1862=)
c.5566A= (p.Ile1856=)
c.5494A= (p.Ile1832=)
c.5521A= (p.Ile1841=)
c.5524A= (p.Ile1842=)
c.5563A= (p.Ile1855=)
c.5533A= (p.Ile1845=)
n.2355A=
c.5428A= (p.Ile1810=)
c.5491A= (p.Ile1831=)
c.5431A= (p.Ile1811=)
c.5629A= (p.Ile1877=)
c.5626A= (p.Ile1876=)
2g.71669152A>CCA347222849DYSFc.3001A>C (p.Ile1001Leu)
c.2218A>C (p.Ile740Leu)
c.2326A>C (p.Ile776Leu)
c.5470A>C (p.Ile1824Leu)
c.5587A>C (p.Ile1863Leu)
c.5473A>C (p.Ile1825Leu)
c.5536A>C (p.Ile1846Leu)
c.5584A>C (p.Ile1862Leu)
c.5566A>C (p.Ile1856Leu)
c.5494A>C (p.Ile1832Leu)
c.5521A>C (p.Ile1841Leu)
c.5524A>C (p.Ile1842Leu)
c.5563A>C (p.Ile1855Leu)
c.5533A>C (p.Ile1845Leu)
n.2355A>C
c.5428A>C (p.Ile1810Leu)
c.5491A>C (p.Ile1831Leu)
c.5431A>C (p.Ile1811Leu)
c.5629A>C (p.Ile1877Leu)
c.5626A>C (p.Ile1876Leu)
2g.71669152A>GCA347222851DYSFc.3001A>G (p.Ile1001Val)
c.2218A>G (p.Ile740Val)
c.2326A>G (p.Ile776Val)
c.5470A>G (p.Ile1824Val)
c.5587A>G (p.Ile1863Val)
c.5473A>G (p.Ile1825Val)
c.5536A>G (p.Ile1846Val)
c.5584A>G (p.Ile1862Val)
c.5566A>G (p.Ile1856Val)
c.5494A>G (p.Ile1832Val)
c.5521A>G (p.Ile1841Val)
c.5524A>G (p.Ile1842Val)
c.5563A>G (p.Ile1855Val)
c.5533A>G (p.Ile1845Val)
n.2355A>G
c.5428A>G (p.Ile1810Val)
c.5491A>G (p.Ile1831Val)
c.5431A>G (p.Ile1811Val)
c.5629A>G (p.Ile1877Val)
c.5626A>G (p.Ile1876Val)
 dbSNP gnomAD v2 gnomAD v4
2g.71669152A>TCA347222853DYSFc.3001A>T (p.Ile1001Phe)
c.2218A>T (p.Ile740Phe)
c.2326A>T (p.Ile776Phe)
c.5470A>T (p.Ile1824Phe)
c.5587A>T (p.Ile1863Phe)
c.5473A>T (p.Ile1825Phe)
c.5536A>T (p.Ile1846Phe)
c.5584A>T (p.Ile1862Phe)
c.5566A>T (p.Ile1856Phe)
c.5494A>T (p.Ile1832Phe)
c.5521A>T (p.Ile1841Phe)
c.5524A>T (p.Ile1842Phe)
c.5563A>T (p.Ile1855Phe)
c.5533A>T (p.Ile1845Phe)
n.2355A>T
c.5428A>T (p.Ile1810Phe)
c.5491A>T (p.Ile1831Phe)
c.5431A>T (p.Ile1811Phe)
c.5629A>T (p.Ile1877Phe)
c.5626A>T (p.Ile1876Phe)
2g.71669153T>ACA347222854DYSFc.3002T>A (p.Ile1001Asn)
c.2219T>A (p.Ile740Asn)
c.2327T>A (p.Ile776Asn)
c.5471T>A (p.Ile1824Asn)
c.5588T>A (p.Ile1863Asn)
c.5474T>A (p.Ile1825Asn)
c.5537T>A (p.Ile1846Asn)
c.5585T>A (p.Ile1862Asn)
c.5567T>A (p.Ile1856Asn)
c.5495T>A (p.Ile1832Asn)
c.5522T>A (p.Ile1841Asn)
c.5525T>A (p.Ile1842Asn)
c.5564T>A (p.Ile1855Asn)
c.5534T>A (p.Ile1845Asn)
n.2356T>A
c.5429T>A (p.Ile1810Asn)
c.5492T>A (p.Ile1831Asn)
c.5432T>A (p.Ile1811Asn)
c.5630T>A (p.Ile1877Asn)
c.5627T>A (p.Ile1876Asn)
2g.71669153T>CCA347222856DYSFc.3002T>C (p.Ile1001Thr)
c.2219T>C (p.Ile740Thr)
c.2327T>C (p.Ile776Thr)
c.5471T>C (p.Ile1824Thr)
c.5588T>C (p.Ile1863Thr)
c.5474T>C (p.Ile1825Thr)
c.5537T>C (p.Ile1846Thr)
c.5585T>C (p.Ile1862Thr)
c.5567T>C (p.Ile1856Thr)
c.5495T>C (p.Ile1832Thr)
c.5522T>C (p.Ile1841Thr)
c.5525T>C (p.Ile1842Thr)
c.5564T>C (p.Ile1855Thr)
c.5534T>C (p.Ile1845Thr)
n.2356T>C
c.5429T>C (p.Ile1810Thr)
c.5492T>C (p.Ile1831Thr)
c.5432T>C (p.Ile1811Thr)
c.5630T>C (p.Ile1877Thr)
c.5627T>C (p.Ile1876Thr)
2g.71669153T>GCA347222859DYSFc.3002T>G (p.Ile1001Ser)
c.2219T>G (p.Ile740Ser)
c.2327T>G (p.Ile776Ser)
c.5471T>G (p.Ile1824Ser)
c.5588T>G (p.Ile1863Ser)
c.5474T>G (p.Ile1825Ser)
c.5537T>G (p.Ile1846Ser)
c.5585T>G (p.Ile1862Ser)
c.5567T>G (p.Ile1856Ser)
c.5495T>G (p.Ile1832Ser)
c.5522T>G (p.Ile1841Ser)
c.5525T>G (p.Ile1842Ser)
c.5564T>G (p.Ile1855Ser)
c.5534T>G (p.Ile1845Ser)
n.2356T>G
c.5429T>G (p.Ile1810Ser)
c.5492T>G (p.Ile1831Ser)
c.5432T>G (p.Ile1811Ser)
c.5630T>G (p.Ile1877Ser)
c.5627T>G (p.Ile1876Ser)
2g.71669154C>ACA426704413DYSFc.3003C>A (p.Ile1001=)
c.2220C>A (p.Ile740=)
c.2328C>A (p.Ile776=)
c.5472C>A (p.Ile1824=)
c.5589C>A (p.Ile1863=)
c.5475C>A (p.Ile1825=)
c.5538C>A (p.Ile1846=)
c.5586C>A (p.Ile1862=)
c.5568C>A (p.Ile1856=)
c.5496C>A (p.Ile1832=)
c.5523C>A (p.Ile1841=)
c.5526C>A (p.Ile1842=)
c.5565C>A (p.Ile1855=)
c.5535C>A (p.Ile1845=)
n.2357C>A
c.5430C>A (p.Ile1810=)
c.5493C>A (p.Ile1831=)
c.5433C>A (p.Ile1811=)
c.5631C>A (p.Ile1877=)
c.5628C>A (p.Ile1876=)
 gnomAD v4
2g.71669154C=CA1260152197DYSFc.3003C= (p.Ile1001=)
c.2220C= (p.Ile740=)
c.2328C= (p.Ile776=)
c.5472C= (p.Ile1824=)
c.5589C= (p.Ile1863=)
c.5475C= (p.Ile1825=)
c.5538C= (p.Ile1846=)
c.5586C= (p.Ile1862=)
c.5568C= (p.Ile1856=)
c.5496C= (p.Ile1832=)
c.5523C= (p.Ile1841=)
c.5526C= (p.Ile1842=)
c.5565C= (p.Ile1855=)
c.5535C= (p.Ile1845=)
n.2357C=
c.5430C= (p.Ile1810=)
c.5493C= (p.Ile1831=)
c.5433C= (p.Ile1811=)
c.5631C= (p.Ile1877=)
c.5628C= (p.Ile1876=)
2g.71669154C>GCA347222862DYSFc.3003C>G (p.Ile1001Met)
c.2220C>G (p.Ile740Met)
c.2328C>G (p.Ile776Met)
c.5472C>G (p.Ile1824Met)
c.5589C>G (p.Ile1863Met)
c.5475C>G (p.Ile1825Met)
c.5538C>G (p.Ile1846Met)
c.5586C>G (p.Ile1862Met)
c.5568C>G (p.Ile1856Met)
c.5496C>G (p.Ile1832Met)
c.5523C>G (p.Ile1841Met)
c.5526C>G (p.Ile1842Met)
c.5565C>G (p.Ile1855Met)
c.5535C>G (p.Ile1845Met)
n.2357C>G
c.5430C>G (p.Ile1810Met)
c.5493C>G (p.Ile1831Met)
c.5433C>G (p.Ile1811Met)
c.5631C>G (p.Ile1877Met)
c.5628C>G (p.Ile1876Met)
2g.71669154C>TCA1707437DYSFc.3003C>T (p.Ile1001=)
c.2220C>T (p.Ile740=)
c.2328C>T (p.Ile776=)
c.5472C>T (p.Ile1824=)
c.5589C>T (p.Ile1863=)
c.5475C>T (p.Ile1825=)
c.5538C>T (p.Ile1846=)
c.5586C>T (p.Ile1862=)
c.5568C>T (p.Ile1856=)
c.5496C>T (p.Ile1832=)
c.5523C>T (p.Ile1841=)
c.5526C>T (p.Ile1842=)
c.5565C>T (p.Ile1855=)
c.5535C>T (p.Ile1845=)
n.2357C>T
c.5430C>T (p.Ile1810=)
c.5493C>T (p.Ile1831=)
c.5433C>T (p.Ile1811=)
c.5631C>T (p.Ile1877=)
c.5628C>T (p.Ile1876=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71669155C>ACA347222867DYSFc.3004C>A (p.Leu1002Met)
c.2221C>A (p.Leu741Met)
c.2329C>A (p.Leu777Met)
c.5473C>A (p.Leu1825Met)
c.5590C>A (p.Leu1864Met)
c.5476C>A (p.Leu1826Met)
c.5539C>A (p.Leu1847Met)
c.5587C>A (p.Leu1863Met)
c.5569C>A (p.Leu1857Met)
c.5497C>A (p.Leu1833Met)
c.5524C>A (p.Leu1842Met)
c.5527C>A (p.Leu1843Met)
c.5566C>A (p.Leu1856Met)
c.5536C>A (p.Leu1846Met)
n.2358C>A
c.5431C>A (p.Leu1811Met)
c.5494C>A (p.Leu1832Met)
c.5434C>A (p.Leu1812Met)
c.5632C>A (p.Leu1878Met)
c.5629C>A (p.Leu1877Met)
 gnomAD v4
2g.71669155C>GCA347222869DYSFc.3004C>G (p.Leu1002Val)
c.2221C>G (p.Leu741Val)
c.2329C>G (p.Leu777Val)
c.5473C>G (p.Leu1825Val)
c.5590C>G (p.Leu1864Val)
c.5476C>G (p.Leu1826Val)
c.5539C>G (p.Leu1847Val)
c.5587C>G (p.Leu1863Val)
c.5569C>G (p.Leu1857Val)
c.5497C>G (p.Leu1833Val)
c.5524C>G (p.Leu1842Val)
c.5527C>G (p.Leu1843Val)
c.5566C>G (p.Leu1856Val)
c.5536C>G (p.Leu1846Val)
n.2358C>G
c.5431C>G (p.Leu1811Val)
c.5494C>G (p.Leu1832Val)
c.5434C>G (p.Leu1812Val)
c.5632C>G (p.Leu1878Val)
c.5629C>G (p.Leu1877Val)
2g.71669155C>TCA426704415DYSFc.3004C>T (p.Leu1002=)
c.2221C>T (p.Leu741=)
c.2329C>T (p.Leu777=)
c.5473C>T (p.Leu1825=)
c.5590C>T (p.Leu1864=)
c.5476C>T (p.Leu1826=)
c.5539C>T (p.Leu1847=)
c.5587C>T (p.Leu1863=)
c.5569C>T (p.Leu1857=)
c.5497C>T (p.Leu1833=)
c.5524C>T (p.Leu1842=)
c.5527C>T (p.Leu1843=)
c.5566C>T (p.Leu1856=)
c.5536C>T (p.Leu1846=)
n.2358C>T
c.5431C>T (p.Leu1811=)
c.5494C>T (p.Leu1832=)
c.5434C>T (p.Leu1812=)
c.5632C>T (p.Leu1878=)
c.5629C>T (p.Leu1877=)
2g.71669156T>ACA347222873DYSFc.3005T>A (p.Leu1002Gln)
c.2222T>A (p.Leu741Gln)
c.2330T>A (p.Leu777Gln)
c.5474T>A (p.Leu1825Gln)
c.5591T>A (p.Leu1864Gln)
c.5477T>A (p.Leu1826Gln)
c.5540T>A (p.Leu1847Gln)
c.5588T>A (p.Leu1863Gln)
c.5570T>A (p.Leu1857Gln)
c.5498T>A (p.Leu1833Gln)
c.5525T>A (p.Leu1842Gln)
c.5528T>A (p.Leu1843Gln)
c.5567T>A (p.Leu1856Gln)
c.5537T>A (p.Leu1846Gln)
n.2359T>A
c.5432T>A (p.Leu1811Gln)
c.5495T>A (p.Leu1832Gln)
c.5435T>A (p.Leu1812Gln)
c.5633T>A (p.Leu1878Gln)
c.5630T>A (p.Leu1877Gln)
 ClinVar dbSNP
2g.71669156T>CCA1707438DYSFc.3005T>C (p.Leu1002Pro)
c.2222T>C (p.Leu741Pro)
c.2330T>C (p.Leu777Pro)
c.5474T>C (p.Leu1825Pro)
c.5591T>C (p.Leu1864Pro)
c.5477T>C (p.Leu1826Pro)
c.5540T>C (p.Leu1847Pro)
c.5588T>C (p.Leu1863Pro)
c.5570T>C (p.Leu1857Pro)
c.5498T>C (p.Leu1833Pro)
c.5525T>C (p.Leu1842Pro)
c.5528T>C (p.Leu1843Pro)
c.5567T>C (p.Leu1856Pro)
c.5537T>C (p.Leu1846Pro)
n.2359T>C
c.5432T>C (p.Leu1811Pro)
c.5495T>C (p.Leu1832Pro)
c.5435T>C (p.Leu1812Pro)
c.5633T>C (p.Leu1878Pro)
c.5630T>C (p.Leu1877Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71669156T>GCA347222871DYSFc.3005T>G (p.Leu1002Arg)
c.2222T>G (p.Leu741Arg)
c.2330T>G (p.Leu777Arg)
c.5474T>G (p.Leu1825Arg)
c.5591T>G (p.Leu1864Arg)
c.5477T>G (p.Leu1826Arg)
c.5540T>G (p.Leu1847Arg)
c.5588T>G (p.Leu1863Arg)
c.5570T>G (p.Leu1857Arg)
c.5498T>G (p.Leu1833Arg)
c.5525T>G (p.Leu1842Arg)
c.5528T>G (p.Leu1843Arg)
c.5567T>G (p.Leu1856Arg)
c.5537T>G (p.Leu1846Arg)
n.2359T>G
c.5432T>G (p.Leu1811Arg)
c.5495T>G (p.Leu1832Arg)
c.5435T>G (p.Leu1812Arg)
c.5633T>G (p.Leu1878Arg)
c.5630T>G (p.Leu1877Arg)
2g.71669156T=CA1260152198DYSFc.3005T= (p.Leu1002=)
c.2222T= (p.Leu741=)
c.2330T= (p.Leu777=)
c.5474T= (p.Leu1825=)
c.5591T= (p.Leu1864=)
c.5477T= (p.Leu1826=)
c.5540T= (p.Leu1847=)
c.5588T= (p.Leu1863=)
c.5570T= (p.Leu1857=)
c.5498T= (p.Leu1833=)
c.5525T= (p.Leu1842=)
c.5528T= (p.Leu1843=)
c.5567T= (p.Leu1856=)
c.5537T= (p.Leu1846=)
n.2359T=
c.5432T= (p.Leu1811=)
c.5495T= (p.Leu1832=)
c.5435T= (p.Leu1812=)
c.5633T= (p.Leu1878=)
c.5630T= (p.Leu1877=)
2g.71669157G>ACA426704418DYSFc.3006G>A (p.Leu1002=)
c.2223G>A (p.Leu741=)
c.2331G>A (p.Leu777=)
c.5475G>A (p.Leu1825=)
c.5592G>A (p.Leu1864=)
c.5478G>A (p.Leu1826=)
c.5541G>A (p.Leu1847=)
c.5589G>A (p.Leu1863=)
c.5571G>A (p.Leu1857=)
c.5499G>A (p.Leu1833=)
c.5526G>A (p.Leu1842=)
c.5529G>A (p.Leu1843=)
c.5568G>A (p.Leu1856=)
c.5538G>A (p.Leu1846=)
n.2360G>A
c.5433G>A (p.Leu1811=)
c.5496G>A (p.Leu1832=)
c.5436G>A (p.Leu1812=)
c.5634G>A (p.Leu1878=)
c.5631G>A (p.Leu1877=)
 gnomAD v4
2g.71669157G>CCA426704416DYSFc.3006G>C (p.Leu1002=)
c.2223G>C (p.Leu741=)
c.2331G>C (p.Leu777=)
c.5475G>C (p.Leu1825=)
c.5592G>C (p.Leu1864=)
c.5478G>C (p.Leu1826=)
c.5541G>C (p.Leu1847=)
c.5589G>C (p.Leu1863=)
c.5571G>C (p.Leu1857=)
c.5499G>C (p.Leu1833=)
c.5526G>C (p.Leu1842=)
c.5529G>C (p.Leu1843=)
c.5568G>C (p.Leu1856=)
c.5538G>C (p.Leu1846=)
n.2360G>C
c.5433G>C (p.Leu1811=)
c.5496G>C (p.Leu1832=)
c.5436G>C (p.Leu1812=)
c.5634G>C (p.Leu1878=)
c.5631G>C (p.Leu1877=)
2g.71669157G>TCA426704417DYSFc.3006G>T (p.Leu1002=)
c.2223G>T (p.Leu741=)
c.2331G>T (p.Leu777=)
c.5475G>T (p.Leu1825=)
c.5592G>T (p.Leu1864=)
c.5478G>T (p.Leu1826=)
c.5541G>T (p.Leu1847=)
c.5589G>T (p.Leu1863=)
c.5571G>T (p.Leu1857=)
c.5499G>T (p.Leu1833=)
c.5526G>T (p.Leu1842=)
c.5529G>T (p.Leu1843=)
c.5568G>T (p.Leu1856=)
c.5538G>T (p.Leu1846=)
n.2360G>T
c.5433G>T (p.Leu1811=)
c.5496G>T (p.Leu1832=)
c.5436G>T (p.Leu1812=)
c.5634G>T (p.Leu1878=)
c.5631G>T (p.Leu1877=)
2g.71669158G>ACA347222880DYSFc.3007G>A (p.Asp1003Asn)
c.2224G>A (p.Asp742Asn)
c.2332G>A (p.Asp778Asn)
c.5476G>A (p.Asp1826Asn)
c.5593G>A (p.Asp1865Asn)
c.5479G>A (p.Asp1827Asn)
c.5542G>A (p.Asp1848Asn)
c.5590G>A (p.Asp1864Asn)
c.5572G>A (p.Asp1858Asn)
c.5500G>A (p.Asp1834Asn)
c.5527G>A (p.Asp1843Asn)
c.5530G>A (p.Asp1844Asn)
c.5569G>A (p.Asp1857Asn)
c.5539G>A (p.Asp1847Asn)
n.2361G>A
c.5434G>A (p.Asp1812Asn)
c.5497G>A (p.Asp1833Asn)
c.5437G>A (p.Asp1813Asn)
c.5635G>A (p.Asp1879Asn)
c.5632G>A (p.Asp1878Asn)
 dbSNP gnomAD v2
2g.71669158G>CCA347222877DYSFc.3007G>C (p.Asp1003His)
c.2224G>C (p.Asp742His)
c.2332G>C (p.Asp778His)
c.5476G>C (p.Asp1826His)
c.5593G>C (p.Asp1865His)
c.5479G>C (p.Asp1827His)
c.5542G>C (p.Asp1848His)
c.5590G>C (p.Asp1864His)
c.5572G>C (p.Asp1858His)
c.5500G>C (p.Asp1834His)
c.5527G>C (p.Asp1843His)
c.5530G>C (p.Asp1844His)
c.5569G>C (p.Asp1857His)
c.5539G>C (p.Asp1847His)
n.2361G>C
c.5434G>C (p.Asp1812His)
c.5497G>C (p.Asp1833His)
c.5437G>C (p.Asp1813His)
c.5635G>C (p.Asp1879His)
c.5632G>C (p.Asp1878His)
2g.71669158G=CA1260152199DYSFc.3007G= (p.Asp1003=)
c.2224G= (p.Asp742=)
c.2332G= (p.Asp778=)
c.5476G= (p.Asp1826=)
c.5593G= (p.Asp1865=)
c.5479G= (p.Asp1827=)
c.5542G= (p.Asp1848=)
c.5590G= (p.Asp1864=)
c.5572G= (p.Asp1858=)
c.5500G= (p.Asp1834=)
c.5527G= (p.Asp1843=)
c.5530G= (p.Asp1844=)
c.5569G= (p.Asp1857=)
c.5539G= (p.Asp1847=)
n.2361G=
c.5434G= (p.Asp1812=)
c.5497G= (p.Asp1833=)
c.5437G= (p.Asp1813=)
c.5635G= (p.Asp1879=)
c.5632G= (p.Asp1878=)
2g.71669158G>TCA347222881DYSFc.3007G>T (p.Asp1003Tyr)
c.2224G>T (p.Asp742Tyr)
c.2332G>T (p.Asp778Tyr)
c.5476G>T (p.Asp1826Tyr)
c.5593G>T (p.Asp1865Tyr)
c.5479G>T (p.Asp1827Tyr)
c.5542G>T (p.Asp1848Tyr)
c.5590G>T (p.Asp1864Tyr)
c.5572G>T (p.Asp1858Tyr)
c.5500G>T (p.Asp1834Tyr)
c.5527G>T (p.Asp1843Tyr)
c.5530G>T (p.Asp1844Tyr)
c.5569G>T (p.Asp1857Tyr)
c.5539G>T (p.Asp1847Tyr)
n.2361G>T
c.5434G>T (p.Asp1812Tyr)
c.5497G>T (p.Asp1833Tyr)
c.5437G>T (p.Asp1813Tyr)
c.5635G>T (p.Asp1879Tyr)
c.5632G>T (p.Asp1878Tyr)
2g.71669159A=CA1260152200DYSFc.3008A= (p.Asp1003=)
c.2225A= (p.Asp742=)
c.2333A= (p.Asp778=)
c.5477A= (p.Asp1826=)
c.5594A= (p.Asp1865=)
c.5480A= (p.Asp1827=)
c.5543A= (p.Asp1848=)
c.5591A= (p.Asp1864=)
c.5573A= (p.Asp1858=)
c.5501A= (p.Asp1834=)
c.5528A= (p.Asp1843=)
c.5531A= (p.Asp1844=)
c.5570A= (p.Asp1857=)
c.5540A= (p.Asp1847=)
n.2362A=
c.5435A= (p.Asp1812=)
c.5498A= (p.Asp1833=)
c.5438A= (p.Asp1813=)
c.5636A= (p.Asp1879=)
c.5633A= (p.Asp1878=)
2g.71669159A>CCA347222885DYSFc.3008A>C (p.Asp1003Ala)
c.2225A>C (p.Asp742Ala)
c.2333A>C (p.Asp778Ala)
c.5477A>C (p.Asp1826Ala)
c.5594A>C (p.Asp1865Ala)
c.5480A>C (p.Asp1827Ala)
c.5543A>C (p.Asp1848Ala)
c.5591A>C (p.Asp1864Ala)
c.5573A>C (p.Asp1858Ala)
c.5501A>C (p.Asp1834Ala)
c.5528A>C (p.Asp1843Ala)
c.5531A>C (p.Asp1844Ala)
c.5570A>C (p.Asp1857Ala)
c.5540A>C (p.Asp1847Ala)
n.2362A>C
c.5435A>C (p.Asp1812Ala)
c.5498A>C (p.Asp1833Ala)
c.5438A>C (p.Asp1813Ala)
c.5636A>C (p.Asp1879Ala)
c.5633A>C (p.Asp1878Ala)
2g.71669159A>GCA1707439DYSFc.3008A>G (p.Asp1003Gly)
c.2225A>G (p.Asp742Gly)
c.2333A>G (p.Asp778Gly)
c.5477A>G (p.Asp1826Gly)
c.5594A>G (p.Asp1865Gly)
c.5480A>G (p.Asp1827Gly)
c.5543A>G (p.Asp1848Gly)
c.5591A>G (p.Asp1864Gly)
c.5573A>G (p.Asp1858Gly)
c.5501A>G (p.Asp1834Gly)
c.5528A>G (p.Asp1843Gly)
c.5531A>G (p.Asp1844Gly)
c.5570A>G (p.Asp1857Gly)
c.5540A>G (p.Asp1847Gly)
n.2362A>G
c.5435A>G (p.Asp1812Gly)
c.5498A>G (p.Asp1833Gly)
c.5438A>G (p.Asp1813Gly)
c.5636A>G (p.Asp1879Gly)
c.5633A>G (p.Asp1878Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71669159A>TCA347222888DYSFc.3008A>T (p.Asp1003Val)
c.2225A>T (p.Asp742Val)
c.2333A>T (p.Asp778Val)
c.5477A>T (p.Asp1826Val)
c.5594A>T (p.Asp1865Val)
c.5480A>T (p.Asp1827Val)
c.5543A>T (p.Asp1848Val)
c.5591A>T (p.Asp1864Val)
c.5573A>T (p.Asp1858Val)
c.5501A>T (p.Asp1834Val)
c.5528A>T (p.Asp1843Val)
c.5531A>T (p.Asp1844Val)
c.5570A>T (p.Asp1857Val)
c.5540A>T (p.Asp1847Val)
n.2362A>T
c.5435A>T (p.Asp1812Val)
c.5498A>T (p.Asp1833Val)
c.5438A>T (p.Asp1813Val)
c.5636A>T (p.Asp1879Val)
c.5633A>T (p.Asp1878Val)
2g.71669160T>ACA347222891DYSFc.3009T>A (p.Asp1003Glu)
c.2226T>A (p.Asp742Glu)
c.2334T>A (p.Asp778Glu)
c.5478T>A (p.Asp1826Glu)
c.5595T>A (p.Asp1865Glu)
c.5481T>A (p.Asp1827Glu)
c.5544T>A (p.Asp1848Glu)
c.5592T>A (p.Asp1864Glu)
c.5574T>A (p.Asp1858Glu)
c.5502T>A (p.Asp1834Glu)
c.5529T>A (p.Asp1843Glu)
c.5532T>A (p.Asp1844Glu)
c.5571T>A (p.Asp1857Glu)
c.5541T>A (p.Asp1847Glu)
n.2363T>A
c.5436T>A (p.Asp1812Glu)
c.5499T>A (p.Asp1833Glu)
c.5439T>A (p.Asp1813Glu)
c.5637T>A (p.Asp1879Glu)
c.5634T>A (p.Asp1878Glu)
2g.71669160T>CCA426704422DYSFc.3009T>C (p.Asp1003=)
c.2226T>C (p.Asp742=)
c.2334T>C (p.Asp778=)
c.5478T>C (p.Asp1826=)
c.5595T>C (p.Asp1865=)
c.5481T>C (p.Asp1827=)
c.5544T>C (p.Asp1848=)
c.5592T>C (p.Asp1864=)
c.5574T>C (p.Asp1858=)
c.5502T>C (p.Asp1834=)
c.5529T>C (p.Asp1843=)
c.5532T>C (p.Asp1844=)
c.5571T>C (p.Asp1857=)
c.5541T>C (p.Asp1847=)
n.2363T>C
c.5436T>C (p.Asp1812=)
c.5499T>C (p.Asp1833=)
c.5439T>C (p.Asp1813=)
c.5637T>C (p.Asp1879=)
c.5634T>C (p.Asp1878=)
2g.71669160T>GCA347222894DYSFc.3009T>G (p.Asp1003Glu)
c.2226T>G (p.Asp742Glu)
c.2334T>G (p.Asp778Glu)
c.5478T>G (p.Asp1826Glu)
c.5595T>G (p.Asp1865Glu)
c.5481T>G (p.Asp1827Glu)
c.5544T>G (p.Asp1848Glu)
c.5592T>G (p.Asp1864Glu)
c.5574T>G (p.Asp1858Glu)
c.5502T>G (p.Asp1834Glu)
c.5529T>G (p.Asp1843Glu)
c.5532T>G (p.Asp1844Glu)
c.5571T>G (p.Asp1857Glu)
c.5541T>G (p.Asp1847Glu)
n.2363T>G
c.5436T>G (p.Asp1812Glu)
c.5499T>G (p.Asp1833Glu)
c.5439T>G (p.Asp1813Glu)
c.5637T>G (p.Asp1879Glu)
c.5634T>G (p.Asp1878Glu)
2g.71669161G>ACA1707440DYSFc.3010G>A (p.Asp1004Asn)
c.2227G>A (p.Asp743Asn)
c.2335G>A (p.Asp779Asn)
c.5479G>A (p.Asp1827Asn)
c.5596G>A (p.Asp1866Asn)
c.5482G>A (p.Asp1828Asn)
c.5545G>A (p.Asp1849Asn)
c.5593G>A (p.Asp1865Asn)
c.5575G>A (p.Asp1859Asn)
c.5503G>A (p.Asp1835Asn)
c.5530G>A (p.Asp1844Asn)
c.5533G>A (p.Asp1845Asn)
c.5572G>A (p.Asp1858Asn)
c.5542G>A (p.Asp1848Asn)
n.2364G>A
c.5437G>A (p.Asp1813Asn)
c.5500G>A (p.Asp1834Asn)
c.5440G>A (p.Asp1814Asn)
c.5638G>A (p.Asp1880Asn)
c.5635G>A (p.Asp1879Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71669161G>CCA347222899DYSFc.3010G>C (p.Asp1004His)
c.2227G>C (p.Asp743His)
c.2335G>C (p.Asp779His)
c.5479G>C (p.Asp1827His)
c.5596G>C (p.Asp1866His)
c.5482G>C (p.Asp1828His)
c.5545G>C (p.Asp1849His)
c.5593G>C (p.Asp1865His)
c.5575G>C (p.Asp1859His)
c.5503G>C (p.Asp1835His)
c.5530G>C (p.Asp1844His)
c.5533G>C (p.Asp1845His)
c.5572G>C (p.Asp1858His)
c.5542G>C (p.Asp1848His)
n.2364G>C
c.5437G>C (p.Asp1813His)
c.5500G>C (p.Asp1834His)
c.5440G>C (p.Asp1814His)
c.5638G>C (p.Asp1880His)
c.5635G>C (p.Asp1879His)
2g.71669161G=CA1260152201DYSFc.3010G= (p.Asp1004=)
c.2227G= (p.Asp743=)
c.2335G= (p.Asp779=)
c.5479G= (p.Asp1827=)
c.5596G= (p.Asp1866=)
c.5482G= (p.Asp1828=)
c.5545G= (p.Asp1849=)
c.5593G= (p.Asp1865=)
c.5575G= (p.Asp1859=)
c.5503G= (p.Asp1835=)
c.5530G= (p.Asp1844=)
c.5533G= (p.Asp1845=)
c.5572G= (p.Asp1858=)
c.5542G= (p.Asp1848=)
n.2364G=
c.5437G= (p.Asp1813=)
c.5500G= (p.Asp1834=)
c.5440G= (p.Asp1814=)
c.5638G= (p.Asp1880=)
c.5635G= (p.Asp1879=)
2g.71669161G>TCA347222901DYSFc.3010G>T (p.Asp1004Tyr)
c.2227G>T (p.Asp743Tyr)
c.2335G>T (p.Asp779Tyr)
c.5479G>T (p.Asp1827Tyr)
c.5596G>T (p.Asp1866Tyr)
c.5482G>T (p.Asp1828Tyr)
c.5545G>T (p.Asp1849Tyr)
c.5593G>T (p.Asp1865Tyr)
c.5575G>T (p.Asp1859Tyr)
c.5503G>T (p.Asp1835Tyr)
c.5530G>T (p.Asp1844Tyr)
c.5533G>T (p.Asp1845Tyr)
c.5572G>T (p.Asp1858Tyr)
c.5542G>T (p.Asp1848Tyr)
n.2364G>T
c.5437G>T (p.Asp1813Tyr)
c.5500G>T (p.Asp1834Tyr)
c.5440G>T (p.Asp1814Tyr)
c.5638G>T (p.Asp1880Tyr)
c.5635G>T (p.Asp1879Tyr)
2g.71669162A=CA1260152202DYSFc.3011A= (p.Asp1004=)
c.2228A= (p.Asp743=)
c.2336A= (p.Asp779=)
c.5480A= (p.Asp1827=)
c.5597A= (p.Asp1866=)
c.5483A= (p.Asp1828=)
c.5546A= (p.Asp1849=)
c.5594A= (p.Asp1865=)
c.5576A= (p.Asp1859=)
c.5504A= (p.Asp1835=)
c.5531A= (p.Asp1844=)
c.5534A= (p.Asp1845=)
c.5573A= (p.Asp1858=)
c.5543A= (p.Asp1848=)
n.2365A=
c.5438A= (p.Asp1813=)
c.5501A= (p.Asp1834=)
c.5441A= (p.Asp1814=)
c.5639A= (p.Asp1880=)
c.5636A= (p.Asp1879=)
2g.71669162A>CCA347222904DYSFc.3011A>C (p.Asp1004Ala)
c.2228A>C (p.Asp743Ala)
c.2336A>C (p.Asp779Ala)
c.5480A>C (p.Asp1827Ala)
c.5597A>C (p.Asp1866Ala)
c.5483A>C (p.Asp1828Ala)
c.5546A>C (p.Asp1849Ala)
c.5594A>C (p.Asp1865Ala)
c.5576A>C (p.Asp1859Ala)
c.5504A>C (p.Asp1835Ala)
c.5531A>C (p.Asp1844Ala)
c.5534A>C (p.Asp1845Ala)
c.5573A>C (p.Asp1858Ala)
c.5543A>C (p.Asp1848Ala)
n.2365A>C
c.5438A>C (p.Asp1813Ala)
c.5501A>C (p.Asp1834Ala)
c.5441A>C (p.Asp1814Ala)
c.5639A>C (p.Asp1880Ala)
c.5636A>C (p.Asp1879Ala)
2g.71669162A>GCA347222906DYSFc.3011A>G (p.Asp1004Gly)
c.2228A>G (p.Asp743Gly)
c.2336A>G (p.Asp779Gly)
c.5480A>G (p.Asp1827Gly)
c.5597A>G (p.Asp1866Gly)
c.5483A>G (p.Asp1828Gly)
c.5546A>G (p.Asp1849Gly)
c.5594A>G (p.Asp1865Gly)
c.5576A>G (p.Asp1859Gly)
c.5504A>G (p.Asp1835Gly)
c.5531A>G (p.Asp1844Gly)
c.5534A>G (p.Asp1845Gly)
c.5573A>G (p.Asp1858Gly)
c.5543A>G (p.Asp1848Gly)
n.2365A>G
c.5438A>G (p.Asp1813Gly)
c.5501A>G (p.Asp1834Gly)
c.5441A>G (p.Asp1814Gly)
c.5639A>G (p.Asp1880Gly)
c.5636A>G (p.Asp1879Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.71669162A>TCA347222909DYSFc.3011A>T (p.Asp1004Val)
c.2228A>T (p.Asp743Val)
c.2336A>T (p.Asp779Val)
c.5480A>T (p.Asp1827Val)
c.5597A>T (p.Asp1866Val)
c.5483A>T (p.Asp1828Val)
c.5546A>T (p.Asp1849Val)
c.5594A>T (p.Asp1865Val)
c.5576A>T (p.Asp1859Val)
c.5504A>T (p.Asp1835Val)
c.5531A>T (p.Asp1844Val)
c.5534A>T (p.Asp1845Val)
c.5573A>T (p.Asp1858Val)
c.5543A>T (p.Asp1848Val)
n.2365A>T
c.5438A>T (p.Asp1813Val)
c.5501A>T (p.Asp1834Val)
c.5441A>T (p.Asp1814Val)
c.5639A>T (p.Asp1880Val)
c.5636A>T (p.Asp1879Val)
2g.71669163C>ACA1707441DYSFc.3012C>A (p.Asp1004Glu)
c.2229C>A (p.Asp743Glu)
c.2337C>A (p.Asp779Glu)
c.5481C>A (p.Asp1827Glu)
c.5598C>A (p.Asp1866Glu)
c.5484C>A (p.Asp1828Glu)
c.5547C>A (p.Asp1849Glu)
c.5595C>A (p.Asp1865Glu)
c.5577C>A (p.Asp1859Glu)
c.5505C>A (p.Asp1835Glu)
c.5532C>A (p.Asp1844Glu)
c.5535C>A (p.Asp1845Glu)
c.5574C>A (p.Asp1858Glu)
c.5544C>A (p.Asp1848Glu)
n.2366C>A
c.5439C>A (p.Asp1813Glu)
c.5502C>A (p.Asp1834Glu)
c.5442C>A (p.Asp1814Glu)
c.5640C>A (p.Asp1880Glu)
c.5637C>A (p.Asp1879Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71669163C=CA1260152203DYSFc.3012C= (p.Asp1004=)
c.2229C= (p.Asp743=)
c.2337C= (p.Asp779=)
c.5481C= (p.Asp1827=)
c.5598C= (p.Asp1866=)
c.5484C= (p.Asp1828=)
c.5547C= (p.Asp1849=)
c.5595C= (p.Asp1865=)
c.5577C= (p.Asp1859=)
c.5505C= (p.Asp1835=)
c.5532C= (p.Asp1844=)
c.5535C= (p.Asp1845=)
c.5574C= (p.Asp1858=)
c.5544C= (p.Asp1848=)
n.2366C=
c.5439C= (p.Asp1813=)
c.5502C= (p.Asp1834=)
c.5442C= (p.Asp1814=)
c.5640C= (p.Asp1880=)
c.5637C= (p.Asp1879=)
2g.71669163C>GCA347222912DYSFc.3012C>G (p.Asp1004Glu)
c.2229C>G (p.Asp743Glu)
c.2337C>G (p.Asp779Glu)
c.5481C>G (p.Asp1827Glu)
c.5598C>G (p.Asp1866Glu)
c.5484C>G (p.Asp1828Glu)
c.5547C>G (p.Asp1849Glu)
c.5595C>G (p.Asp1865Glu)
c.5577C>G (p.Asp1859Glu)
c.5505C>G (p.Asp1835Glu)
c.5532C>G (p.Asp1844Glu)
c.5535C>G (p.Asp1845Glu)
c.5574C>G (p.Asp1858Glu)
c.5544C>G (p.Asp1848Glu)
n.2366C>G
c.5439C>G (p.Asp1813Glu)
c.5502C>G (p.Asp1834Glu)
c.5442C>G (p.Asp1814Glu)
c.5640C>G (p.Asp1880Glu)
c.5637C>G (p.Asp1879Glu)
2g.71669163C>TCA426704426DYSFc.3012C>T (p.Asp1004=)
c.2229C>T (p.Asp743=)
c.2337C>T (p.Asp779=)
c.5481C>T (p.Asp1827=)
c.5598C>T (p.Asp1866=)
c.5484C>T (p.Asp1828=)
c.5547C>T (p.Asp1849=)
c.5595C>T (p.Asp1865=)
c.5577C>T (p.Asp1859=)
c.5505C>T (p.Asp1835=)
c.5532C>T (p.Asp1844=)
c.5535C>T (p.Asp1845=)
c.5574C>T (p.Asp1858=)
c.5544C>T (p.Asp1848=)
n.2366C>T
c.5439C>T (p.Asp1813=)
c.5502C>T (p.Asp1834=)
c.5442C>T (p.Asp1814=)
c.5640C>T (p.Asp1880=)
c.5637C>T (p.Asp1879=)
 dbSNP gnomAD v4
2g.71669164C>ACA347222914DYSFc.3013C>A (p.Leu1005Met)
c.2230C>A (p.Leu744Met)
c.2338C>A (p.Leu780Met)
c.5482C>A (p.Leu1828Met)
c.5599C>A (p.Leu1867Met)
c.5485C>A (p.Leu1829Met)
c.5548C>A (p.Leu1850Met)
c.5596C>A (p.Leu1866Met)
c.5578C>A (p.Leu1860Met)
c.5506C>A (p.Leu1836Met)
c.5533C>A (p.Leu1845Met)
c.5536C>A (p.Leu1846Met)
c.5575C>A (p.Leu1859Met)
c.5545C>A (p.Leu1849Met)
n.2367C>A
c.5440C>A (p.Leu1814Met)
c.5503C>A (p.Leu1835Met)
c.5443C>A (p.Leu1815Met)
c.5641C>A (p.Leu1881Met)
c.5638C>A (p.Leu1880Met)
2g.71669164C=CA1260152204DYSFc.3013C= (p.Leu1005=)
c.2230C= (p.Leu744=)
c.2338C= (p.Leu780=)
c.5482C= (p.Leu1828=)
c.5599C= (p.Leu1867=)
c.5485C= (p.Leu1829=)
c.5548C= (p.Leu1850=)
c.5596C= (p.Leu1866=)
c.5578C= (p.Leu1860=)
c.5506C= (p.Leu1836=)
c.5533C= (p.Leu1845=)
c.5536C= (p.Leu1846=)
c.5575C= (p.Leu1859=)
c.5545C= (p.Leu1849=)
n.2367C=
c.5440C= (p.Leu1814=)
c.5503C= (p.Leu1835=)
c.5443C= (p.Leu1815=)
c.5641C= (p.Leu1881=)
c.5638C= (p.Leu1880=)
2g.71669164C>GCA347222916DYSFc.3013C>G (p.Leu1005Val)
c.2230C>G (p.Leu744Val)
c.2338C>G (p.Leu780Val)
c.5482C>G (p.Leu1828Val)
c.5599C>G (p.Leu1867Val)
c.5485C>G (p.Leu1829Val)
c.5548C>G (p.Leu1850Val)
c.5596C>G (p.Leu1866Val)
c.5578C>G (p.Leu1860Val)
c.5506C>G (p.Leu1836Val)
c.5533C>G (p.Leu1845Val)
c.5536C>G (p.Leu1846Val)
c.5575C>G (p.Leu1859Val)
c.5545C>G (p.Leu1849Val)
n.2367C>G
c.5440C>G (p.Leu1814Val)
c.5503C>G (p.Leu1835Val)
c.5443C>G (p.Leu1815Val)
c.5641C>G (p.Leu1881Val)
c.5638C>G (p.Leu1880Val)
2g.71669164C>TCA426704427DYSFc.3013C>T (p.Leu1005=)
c.2230C>T (p.Leu744=)
c.2338C>T (p.Leu780=)
c.5482C>T (p.Leu1828=)
c.5599C>T (p.Leu1867=)
c.5485C>T (p.Leu1829=)
c.5548C>T (p.Leu1850=)
c.5596C>T (p.Leu1866=)
c.5578C>T (p.Leu1860=)
c.5506C>T (p.Leu1836=)
c.5533C>T (p.Leu1845=)
c.5536C>T (p.Leu1846=)
c.5575C>T (p.Leu1859=)
c.5545C>T (p.Leu1849=)
n.2367C>T
c.5440C>T (p.Leu1814=)
c.5503C>T (p.Leu1835=)
c.5443C>T (p.Leu1815=)
c.5641C>T (p.Leu1881=)
c.5638C>T (p.Leu1880=)
 dbSNP gnomAD v4
2g.71669165T>ACA347222922DYSFc.3014T>A (p.Leu1005Gln)
c.2231T>A (p.Leu744Gln)
c.2339T>A (p.Leu780Gln)
c.5483T>A (p.Leu1828Gln)
c.5600T>A (p.Leu1867Gln)
c.5486T>A (p.Leu1829Gln)
c.5549T>A (p.Leu1850Gln)
c.5597T>A (p.Leu1866Gln)
c.5579T>A (p.Leu1860Gln)
c.5507T>A (p.Leu1836Gln)
c.5534T>A (p.Leu1845Gln)
c.5537T>A (p.Leu1846Gln)
c.5576T>A (p.Leu1859Gln)
c.5546T>A (p.Leu1849Gln)
n.2368T>A
c.5441T>A (p.Leu1814Gln)
c.5504T>A (p.Leu1835Gln)
c.5444T>A (p.Leu1815Gln)
c.5642T>A (p.Leu1881Gln)
c.5639T>A (p.Leu1880Gln)
2g.71669165T>CCA347222919DYSFc.3014T>C (p.Leu1005Pro)
c.2231T>C (p.Leu744Pro)
c.2339T>C (p.Leu780Pro)
c.5483T>C (p.Leu1828Pro)
c.5600T>C (p.Leu1867Pro)
c.5486T>C (p.Leu1829Pro)
c.5549T>C (p.Leu1850Pro)
c.5597T>C (p.Leu1866Pro)
c.5579T>C (p.Leu1860Pro)
c.5507T>C (p.Leu1836Pro)
c.5534T>C (p.Leu1845Pro)
c.5537T>C (p.Leu1846Pro)
c.5576T>C (p.Leu1859Pro)
c.5546T>C (p.Leu1849Pro)
n.2368T>C
c.5441T>C (p.Leu1814Pro)
c.5504T>C (p.Leu1835Pro)
c.5444T>C (p.Leu1815Pro)
c.5642T>C (p.Leu1881Pro)
c.5639T>C (p.Leu1880Pro)
 gnomAD v4
2g.71669165T>GCA347222920DYSFc.3014T>G (p.Leu1005Arg)
c.2231T>G (p.Leu744Arg)
c.2339T>G (p.Leu780Arg)
c.5483T>G (p.Leu1828Arg)
c.5600T>G (p.Leu1867Arg)
c.5486T>G (p.Leu1829Arg)
c.5549T>G (p.Leu1850Arg)
c.5597T>G (p.Leu1866Arg)
c.5579T>G (p.Leu1860Arg)
c.5507T>G (p.Leu1836Arg)
c.5534T>G (p.Leu1845Arg)
c.5537T>G (p.Leu1846Arg)
c.5576T>G (p.Leu1859Arg)
c.5546T>G (p.Leu1849Arg)
n.2368T>G
c.5441T>G (p.Leu1814Arg)
c.5504T>G (p.Leu1835Arg)
c.5444T>G (p.Leu1815Arg)
c.5642T>G (p.Leu1881Arg)
c.5639T>G (p.Leu1880Arg)
2g.71669166G>ACA426704428DYSFc.3015G>A (p.Leu1005=)
c.2232G>A (p.Leu744=)
c.2340G>A (p.Leu780=)
c.5484G>A (p.Leu1828=)
c.5601G>A (p.Leu1867=)
c.5487G>A (p.Leu1829=)
c.5550G>A (p.Leu1850=)
c.5598G>A (p.Leu1866=)
c.5580G>A (p.Leu1860=)
c.5508G>A (p.Leu1836=)
c.5535G>A (p.Leu1845=)
c.5538G>A (p.Leu1846=)
c.5577G>A (p.Leu1859=)
c.5547G>A (p.Leu1849=)
n.2369G>A
c.5442G>A (p.Leu1814=)
c.5505G>A (p.Leu1835=)
c.5445G>A (p.Leu1815=)
c.5643G>A (p.Leu1881=)
c.5640G>A (p.Leu1880=)
2g.71669166G>CCA426704429DYSFc.3015G>C (p.Leu1005=)
c.2232G>C (p.Leu744=)
c.2340G>C (p.Leu780=)
c.5484G>C (p.Leu1828=)
c.5601G>C (p.Leu1867=)
c.5487G>C (p.Leu1829=)
c.5550G>C (p.Leu1850=)
c.5598G>C (p.Leu1866=)
c.5580G>C (p.Leu1860=)
c.5508G>C (p.Leu1836=)
c.5535G>C (p.Leu1845=)
c.5538G>C (p.Leu1846=)
c.5577G>C (p.Leu1859=)
c.5547G>C (p.Leu1849=)
n.2369G>C
c.5442G>C (p.Leu1814=)
c.5505G>C (p.Leu1835=)
c.5445G>C (p.Leu1815=)
c.5643G>C (p.Leu1881=)
c.5640G>C (p.Leu1880=)
 ClinVar
2g.71669166G>TCA426704430DYSFc.3015G>T (p.Leu1005=)
c.2232G>T (p.Leu744=)
c.2340G>T (p.Leu780=)
c.5484G>T (p.Leu1828=)
c.5601G>T (p.Leu1867=)
c.5487G>T (p.Leu1829=)
c.5550G>T (p.Leu1850=)
c.5598G>T (p.Leu1866=)
c.5580G>T (p.Leu1860=)
c.5508G>T (p.Leu1836=)
c.5535G>T (p.Leu1845=)
c.5538G>T (p.Leu1846=)
c.5577G>T (p.Leu1859=)
c.5547G>T (p.Leu1849=)
n.2369G>T
c.5442G>T (p.Leu1814=)
c.5505G>T (p.Leu1835=)
c.5445G>T (p.Leu1815=)
c.5643G>T (p.Leu1881=)
c.5640G>T (p.Leu1880=)
2g.71669167A=CA1260152205DYSFc.3016A= (p.Ser1006=)
c.2233A= (p.Ser745=)
c.2341A= (p.Ser781=)
c.5485A= (p.Ser1829=)
c.5602A= (p.Ser1868=)
c.5488A= (p.Ser1830=)
c.5551A= (p.Ser1851=)
c.5599A= (p.Ser1867=)
c.5581A= (p.Ser1861=)
c.5509A= (p.Ser1837=)
c.5536A= (p.Ser1846=)
c.5539A= (p.Ser1847=)
c.5578A= (p.Ser1860=)
c.5548A= (p.Ser1850=)
n.2370A=
c.5443A= (p.Ser1815=)
c.5506A= (p.Ser1836=)
c.5446A= (p.Ser1816=)
c.5644A= (p.Ser1882=)
c.5641A= (p.Ser1881=)
2g.71669167A>CCA347222926DYSFc.3016A>C (p.Ser1006Arg)
c.2233A>C (p.Ser745Arg)
c.2341A>C (p.Ser781Arg)
c.5485A>C (p.Ser1829Arg)
c.5602A>C (p.Ser1868Arg)
c.5488A>C (p.Ser1830Arg)
c.5551A>C (p.Ser1851Arg)
c.5599A>C (p.Ser1867Arg)
c.5581A>C (p.Ser1861Arg)
c.5509A>C (p.Ser1837Arg)
c.5536A>C (p.Ser1846Arg)
c.5539A>C (p.Ser1847Arg)
c.5578A>C (p.Ser1860Arg)
c.5548A>C (p.Ser1850Arg)
n.2370A>C
c.5443A>C (p.Ser1815Arg)
c.5506A>C (p.Ser1836Arg)
c.5446A>C (p.Ser1816Arg)
c.5644A>C (p.Ser1882Arg)
c.5641A>C (p.Ser1881Arg)
2g.71669167A>GCA1707442DYSFc.3016A>G (p.Ser1006Gly)
c.2233A>G (p.Ser745Gly)
c.2341A>G (p.Ser781Gly)
c.5485A>G (p.Ser1829Gly)
c.5602A>G (p.Ser1868Gly)
c.5488A>G (p.Ser1830Gly)
c.5551A>G (p.Ser1851Gly)
c.5599A>G (p.Ser1867Gly)
c.5581A>G (p.Ser1861Gly)
c.5509A>G (p.Ser1837Gly)
c.5536A>G (p.Ser1846Gly)
c.5539A>G (p.Ser1847Gly)
c.5578A>G (p.Ser1860Gly)
c.5548A>G (p.Ser1850Gly)
n.2370A>G
c.5443A>G (p.Ser1815Gly)
c.5506A>G (p.Ser1836Gly)
c.5446A>G (p.Ser1816Gly)
c.5644A>G (p.Ser1882Gly)
c.5641A>G (p.Ser1881Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71669167A>TCA347222930DYSFc.3016A>T (p.Ser1006Cys)
c.2233A>T (p.Ser745Cys)
c.2341A>T (p.Ser781Cys)
c.5485A>T (p.Ser1829Cys)
c.5602A>T (p.Ser1868Cys)
c.5488A>T (p.Ser1830Cys)
c.5551A>T (p.Ser1851Cys)
c.5599A>T (p.Ser1867Cys)
c.5581A>T (p.Ser1861Cys)
c.5509A>T (p.Ser1837Cys)
c.5536A>T (p.Ser1846Cys)
c.5539A>T (p.Ser1847Cys)
c.5578A>T (p.Ser1860Cys)
c.5548A>T (p.Ser1850Cys)
n.2370A>T
c.5443A>T (p.Ser1815Cys)
c.5506A>T (p.Ser1836Cys)
c.5446A>T (p.Ser1816Cys)
c.5644A>T (p.Ser1882Cys)
c.5641A>T (p.Ser1881Cys)
2g.71669168G>ACA1707443DYSFc.3017G>A (p.Ser1006Asn)
c.2234G>A (p.Ser745Asn)
c.2342G>A (p.Ser781Asn)
c.5486G>A (p.Ser1829Asn)
c.5603G>A (p.Ser1868Asn)
c.5489G>A (p.Ser1830Asn)
c.5552G>A (p.Ser1851Asn)
c.5600G>A (p.Ser1867Asn)
c.5582G>A (p.Ser1861Asn)
c.5510G>A (p.Ser1837Asn)
c.5537G>A (p.Ser1846Asn)
c.5540G>A (p.Ser1847Asn)
c.5579G>A (p.Ser1860Asn)
c.5549G>A (p.Ser1850Asn)
n.2371G>A
c.5444G>A (p.Ser1815Asn)
c.5507G>A (p.Ser1836Asn)
c.5447G>A (p.Ser1816Asn)
c.5645G>A (p.Ser1882Asn)
c.5642G>A (p.Ser1881Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71669168G>CCA347222940DYSFc.3017G>C (p.Ser1006Thr)
c.2234G>C (p.Ser745Thr)
c.2342G>C (p.Ser781Thr)
c.5486G>C (p.Ser1829Thr)
c.5603G>C (p.Ser1868Thr)
c.5489G>C (p.Ser1830Thr)
c.5552G>C (p.Ser1851Thr)
c.5600G>C (p.Ser1867Thr)
c.5582G>C (p.Ser1861Thr)
c.5510G>C (p.Ser1837Thr)
c.5537G>C (p.Ser1846Thr)
c.5540G>C (p.Ser1847Thr)
c.5579G>C (p.Ser1860Thr)
c.5549G>C (p.Ser1850Thr)
n.2371G>C
c.5444G>C (p.Ser1815Thr)
c.5507G>C (p.Ser1836Thr)
c.5447G>C (p.Ser1816Thr)
c.5645G>C (p.Ser1882Thr)
c.5642G>C (p.Ser1881Thr)
2g.71669168G=CA1260152206DYSFc.3017G= (p.Ser1006=)
c.2234G= (p.Ser745=)
c.2342G= (p.Ser781=)
c.5486G= (p.Ser1829=)
c.5603G= (p.Ser1868=)
c.5489G= (p.Ser1830=)
c.5552G= (p.Ser1851=)
c.5600G= (p.Ser1867=)
c.5582G= (p.Ser1861=)
c.5510G= (p.Ser1837=)
c.5537G= (p.Ser1846=)
c.5540G= (p.Ser1847=)
c.5579G= (p.Ser1860=)
c.5549G= (p.Ser1850=)
n.2371G=
c.5444G= (p.Ser1815=)
c.5507G= (p.Ser1836=)
c.5447G= (p.Ser1816=)
c.5645G= (p.Ser1882=)
c.5642G= (p.Ser1881=)
2g.71669168G>TCA347222941DYSFc.3017G>T (p.Ser1006Ile)
c.2234G>T (p.Ser745Ile)
c.2342G>T (p.Ser781Ile)
c.5486G>T (p.Ser1829Ile)
c.5603G>T (p.Ser1868Ile)
c.5489G>T (p.Ser1830Ile)
c.5552G>T (p.Ser1851Ile)
c.5600G>T (p.Ser1867Ile)
c.5582G>T (p.Ser1861Ile)
c.5510G>T (p.Ser1837Ile)
c.5537G>T (p.Ser1846Ile)
c.5540G>T (p.Ser1847Ile)
c.5579G>T (p.Ser1860Ile)
c.5549G>T (p.Ser1850Ile)
n.2371G>T
c.5444G>T (p.Ser1815Ile)
c.5507G>T (p.Ser1836Ile)
c.5447G>T (p.Ser1816Ile)
c.5645G>T (p.Ser1882Ile)
c.5642G>T (p.Ser1881Ile)
2g.71669169C>ACA347222944DYSFc.3018C>A (p.Ser1006Arg)
c.2235C>A (p.Ser745Arg)
c.2343C>A (p.Ser781Arg)
c.5487C>A (p.Ser1829Arg)
c.5604C>A (p.Ser1868Arg)
c.5490C>A (p.Ser1830Arg)
c.5553C>A (p.Ser1851Arg)
c.5601C>A (p.Ser1867Arg)
c.5583C>A (p.Ser1861Arg)
c.5511C>A (p.Ser1837Arg)
c.5538C>A (p.Ser1846Arg)
c.5541C>A (p.Ser1847Arg)
c.5580C>A (p.Ser1860Arg)
c.5550C>A (p.Ser1850Arg)
n.2372C>A
c.5445C>A (p.Ser1815Arg)
c.5508C>A (p.Ser1836Arg)
c.5448C>A (p.Ser1816Arg)
c.5646C>A (p.Ser1882Arg)
c.5643C>A (p.Ser1881Arg)
2g.71669169C=CA1260152207DYSFc.3018C= (p.Ser1006=)
c.2235C= (p.Ser745=)
c.2343C= (p.Ser781=)
c.5487C= (p.Ser1829=)
c.5604C= (p.Ser1868=)
c.5490C= (p.Ser1830=)
c.5553C= (p.Ser1851=)
c.5601C= (p.Ser1867=)
c.5583C= (p.Ser1861=)
c.5511C= (p.Ser1837=)
c.5538C= (p.Ser1846=)
c.5541C= (p.Ser1847=)
c.5580C= (p.Ser1860=)
c.5550C= (p.Ser1850=)
n.2372C=
c.5445C= (p.Ser1815=)
c.5508C= (p.Ser1836=)
c.5448C= (p.Ser1816=)
c.5646C= (p.Ser1882=)
c.5643C= (p.Ser1881=)
2g.71669169C>GCA347222947DYSFc.3018C>G (p.Ser1006Arg)
c.2235C>G (p.Ser745Arg)
c.2343C>G (p.Ser781Arg)
c.5487C>G (p.Ser1829Arg)
c.5604C>G (p.Ser1868Arg)
c.5490C>G (p.Ser1830Arg)
c.5553C>G (p.Ser1851Arg)
c.5601C>G (p.Ser1867Arg)
c.5583C>G (p.Ser1861Arg)
c.5511C>G (p.Ser1837Arg)
c.5538C>G (p.Ser1846Arg)
c.5541C>G (p.Ser1847Arg)
c.5580C>G (p.Ser1860Arg)
c.5550C>G (p.Ser1850Arg)
n.2372C>G
c.5445C>G (p.Ser1815Arg)
c.5508C>G (p.Ser1836Arg)
c.5448C>G (p.Ser1816Arg)
c.5646C>G (p.Ser1882Arg)
c.5643C>G (p.Ser1881Arg)
2g.71669169C>TCA426704434DYSFc.3018C>T (p.Ser1006=)
c.2235C>T (p.Ser745=)
c.2343C>T (p.Ser781=)
c.5487C>T (p.Ser1829=)
c.5604C>T (p.Ser1868=)
c.5490C>T (p.Ser1830=)
c.5553C>T (p.Ser1851=)
c.5601C>T (p.Ser1867=)
c.5583C>T (p.Ser1861=)
c.5511C>T (p.Ser1837=)
c.5538C>T (p.Ser1846=)
c.5541C>T (p.Ser1847=)
c.5580C>T (p.Ser1860=)
c.5550C>T (p.Ser1850=)
n.2372C>T
c.5445C>T (p.Ser1815=)
c.5508C>T (p.Ser1836=)
c.5448C>T (p.Ser1816=)
c.5646C>T (p.Ser1882=)
c.5643C>T (p.Ser1881=)
 dbSNP gnomAD v2 gnomAD v4
2g.71669170C>ACA347222949DYSFc.3019C>A (p.Leu1007Ile)
c.2236C>A (p.Leu746Ile)
c.2344C>A (p.Leu782Ile)
c.5488C>A (p.Leu1830Ile)
c.5605C>A (p.Leu1869Ile)
c.5491C>A (p.Leu1831Ile)
c.5554C>A (p.Leu1852Ile)
c.5602C>A (p.Leu1868Ile)
c.5584C>A (p.Leu1862Ile)
c.5512C>A (p.Leu1838Ile)
c.5539C>A (p.Leu1847Ile)
c.5542C>A (p.Leu1848Ile)
c.5581C>A (p.Leu1861Ile)
c.5551C>A (p.Leu1851Ile)
n.2373C>A
c.5446C>A (p.Leu1816Ile)
c.5509C>A (p.Leu1837Ile)
c.5449C>A (p.Leu1817Ile)
c.5647C>A (p.Leu1883Ile)
c.5644C>A (p.Leu1882Ile)
2g.71669170C=CA1260152208DYSFc.3019C= (p.Leu1007=)
c.2236C= (p.Leu746=)
c.2344C= (p.Leu782=)
c.5488C= (p.Leu1830=)
c.5605C= (p.Leu1869=)
c.5491C= (p.Leu1831=)
c.5554C= (p.Leu1852=)
c.5602C= (p.Leu1868=)
c.5584C= (p.Leu1862=)
c.5512C= (p.Leu1838=)
c.5539C= (p.Leu1847=)
c.5542C= (p.Leu1848=)
c.5581C= (p.Leu1861=)
c.5551C= (p.Leu1851=)
n.2373C=
c.5446C= (p.Leu1816=)
c.5509C= (p.Leu1837=)
c.5449C= (p.Leu1817=)
c.5647C= (p.Leu1883=)
c.5644C= (p.Leu1882=)
2g.71669170C>GCA347222951DYSFc.3019C>G (p.Leu1007Val)
c.2236C>G (p.Leu746Val)
c.2344C>G (p.Leu782Val)
c.5488C>G (p.Leu1830Val)
c.5605C>G (p.Leu1869Val)
c.5491C>G (p.Leu1831Val)
c.5554C>G (p.Leu1852Val)
c.5602C>G (p.Leu1868Val)
c.5584C>G (p.Leu1862Val)
c.5512C>G (p.Leu1838Val)
c.5539C>G (p.Leu1847Val)
c.5542C>G (p.Leu1848Val)
c.5581C>G (p.Leu1861Val)
c.5551C>G (p.Leu1851Val)
n.2373C>G
c.5446C>G (p.Leu1816Val)
c.5509C>G (p.Leu1837Val)
c.5449C>G (p.Leu1817Val)
c.5647C>G (p.Leu1883Val)
c.5644C>G (p.Leu1882Val)
2g.71669170C>TCA347222953DYSFc.3019C>T (p.Leu1007Phe)
c.2236C>T (p.Leu746Phe)
c.2344C>T (p.Leu782Phe)
c.5488C>T (p.Leu1830Phe)
c.5605C>T (p.Leu1869Phe)
c.5491C>T (p.Leu1831Phe)
c.5554C>T (p.Leu1852Phe)
c.5602C>T (p.Leu1868Phe)
c.5584C>T (p.Leu1862Phe)
c.5512C>T (p.Leu1838Phe)
c.5539C>T (p.Leu1847Phe)
c.5542C>T (p.Leu1848Phe)
c.5581C>T (p.Leu1861Phe)
c.5551C>T (p.Leu1851Phe)
n.2373C>T
c.5446C>T (p.Leu1816Phe)
c.5509C>T (p.Leu1837Phe)
c.5449C>T (p.Leu1817Phe)
c.5647C>T (p.Leu1883Phe)
c.5644C>T (p.Leu1882Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71669171T>ACA347222960DYSFc.3020T>A (p.Leu1007His)
c.2237T>A (p.Leu746His)
c.2345T>A (p.Leu782His)
c.5489T>A (p.Leu1830His)
c.5606T>A (p.Leu1869His)
c.5492T>A (p.Leu1831His)
c.5555T>A (p.Leu1852His)
c.5603T>A (p.Leu1868His)
c.5585T>A (p.Leu1862His)
c.5513T>A (p.Leu1838His)
c.5540T>A (p.Leu1847His)
c.5543T>A (p.Leu1848His)
c.5582T>A (p.Leu1861His)
c.5552T>A (p.Leu1851His)
n.2374T>A
c.5447T>A (p.Leu1816His)
c.5510T>A (p.Leu1837His)
c.5450T>A (p.Leu1817His)
c.5648T>A (p.Leu1883His)
c.5645T>A (p.Leu1882His)
2g.71669171T>CCA347222959DYSFc.3020T>C (p.Leu1007Pro)
c.2237T>C (p.Leu746Pro)
c.2345T>C (p.Leu782Pro)
c.5489T>C (p.Leu1830Pro)
c.5606T>C (p.Leu1869Pro)
c.5492T>C (p.Leu1831Pro)
c.5555T>C (p.Leu1852Pro)
c.5603T>C (p.Leu1868Pro)
c.5585T>C (p.Leu1862Pro)
c.5513T>C (p.Leu1838Pro)
c.5540T>C (p.Leu1847Pro)
c.5543T>C (p.Leu1848Pro)
c.5582T>C (p.Leu1861Pro)
c.5552T>C (p.Leu1851Pro)
n.2374T>C
c.5447T>C (p.Leu1816Pro)
c.5510T>C (p.Leu1837Pro)
c.5450T>C (p.Leu1817Pro)
c.5648T>C (p.Leu1883Pro)
c.5645T>C (p.Leu1882Pro)
 gnomAD v4
2g.71669171T>GCA347222956DYSFc.3020T>G (p.Leu1007Arg)
c.2237T>G (p.Leu746Arg)
c.2345T>G (p.Leu782Arg)
c.5489T>G (p.Leu1830Arg)
c.5606T>G (p.Leu1869Arg)
c.5492T>G (p.Leu1831Arg)
c.5555T>G (p.Leu1852Arg)
c.5603T>G (p.Leu1868Arg)
c.5585T>G (p.Leu1862Arg)
c.5513T>G (p.Leu1838Arg)
c.5540T>G (p.Leu1847Arg)
c.5543T>G (p.Leu1848Arg)
c.5582T>G (p.Leu1861Arg)
c.5552T>G (p.Leu1851Arg)
n.2374T>G
c.5447T>G (p.Leu1816Arg)
c.5510T>G (p.Leu1837Arg)
c.5450T>G (p.Leu1817Arg)
c.5648T>G (p.Leu1883Arg)
c.5645T>G (p.Leu1882Arg)
2g.71669172C>ACA426704437DYSFc.3021C>A (p.Leu1007=)
c.2238C>A (p.Leu746=)
c.2346C>A (p.Leu782=)
c.5490C>A (p.Leu1830=)
c.5607C>A (p.Leu1869=)
c.5493C>A (p.Leu1831=)
c.5556C>A (p.Leu1852=)
c.5604C>A (p.Leu1868=)
c.5586C>A (p.Leu1862=)
c.5514C>A (p.Leu1838=)
c.5541C>A (p.Leu1847=)
c.5544C>A (p.Leu1848=)
c.5583C>A (p.Leu1861=)
c.5553C>A (p.Leu1851=)
n.2375C>A
c.5448C>A (p.Leu1816=)
c.5511C>A (p.Leu1837=)
c.5451C>A (p.Leu1817=)
c.5649C>A (p.Leu1883=)
c.5646C>A (p.Leu1882=)
 dbSNP COSMIC COSMIC
2g.71669172C=CA1260152209DYSFc.3021C= (p.Leu1007=)
c.2238C= (p.Leu746=)
c.2346C= (p.Leu782=)
c.5490C= (p.Leu1830=)
c.5607C= (p.Leu1869=)
c.5493C= (p.Leu1831=)
c.5556C= (p.Leu1852=)
c.5604C= (p.Leu1868=)
c.5586C= (p.Leu1862=)
c.5514C= (p.Leu1838=)
c.5541C= (p.Leu1847=)
c.5544C= (p.Leu1848=)
c.5583C= (p.Leu1861=)
c.5553C= (p.Leu1851=)
n.2375C=
c.5448C= (p.Leu1816=)
c.5511C= (p.Leu1837=)
c.5451C= (p.Leu1817=)
c.5649C= (p.Leu1883=)
c.5646C= (p.Leu1882=)
2g.71669172C>GCA426704438DYSFc.3021C>G (p.Leu1007=)
c.2238C>G (p.Leu746=)
c.2346C>G (p.Leu782=)
c.5490C>G (p.Leu1830=)
c.5607C>G (p.Leu1869=)
c.5493C>G (p.Leu1831=)
c.5556C>G (p.Leu1852=)
c.5604C>G (p.Leu1868=)
c.5586C>G (p.Leu1862=)
c.5514C>G (p.Leu1838=)
c.5541C>G (p.Leu1847=)
c.5544C>G (p.Leu1848=)
c.5583C>G (p.Leu1861=)
c.5553C>G (p.Leu1851=)
n.2375C>G
c.5448C>G (p.Leu1816=)
c.5511C>G (p.Leu1837=)
c.5451C>G (p.Leu1817=)
c.5649C>G (p.Leu1883=)
c.5646C>G (p.Leu1882=)
2g.71669172C>TCA426704439DYSFc.3021C>T (p.Leu1007=)
c.2238C>T (p.Leu746=)
c.2346C>T (p.Leu782=)
c.5490C>T (p.Leu1830=)
c.5607C>T (p.Leu1869=)
c.5493C>T (p.Leu1831=)
c.5556C>T (p.Leu1852=)
c.5604C>T (p.Leu1868=)
c.5586C>T (p.Leu1862=)
c.5514C>T (p.Leu1838=)
c.5541C>T (p.Leu1847=)
c.5544C>T (p.Leu1848=)
c.5583C>T (p.Leu1861=)
c.5553C>T (p.Leu1851=)
n.2375C>T
c.5448C>T (p.Leu1816=)
c.5511C>T (p.Leu1837=)
c.5451C>T (p.Leu1817=)
c.5649C>T (p.Leu1883=)
c.5646C>T (p.Leu1882=)
2g.71669173A=CA1260152210DYSFc.3022A= (p.Thr1008=)
c.2239A= (p.Thr747=)
c.2347A= (p.Thr783=)
c.5491A= (p.Thr1831=)
c.5608A= (p.Thr1870=)
c.5494A= (p.Thr1832=)
c.5557A= (p.Thr1853=)
c.5605A= (p.Thr1869=)
c.5587A= (p.Thr1863=)
c.5515A= (p.Thr1839=)
c.5542A= (p.Thr1848=)
c.5545A= (p.Thr1849=)
c.5584A= (p.Thr1862=)
c.5554A= (p.Thr1852=)
n.2376A=
c.5449A= (p.Thr1817=)
c.5512A= (p.Thr1838=)
c.5452A= (p.Thr1818=)
c.5650A= (p.Thr1884=)
c.5647A= (p.Thr1883=)
2g.71669173A>CCA347222965DYSFc.3022A>C (p.Thr1008Pro)
c.2239A>C (p.Thr747Pro)
c.2347A>C (p.Thr783Pro)
c.5491A>C (p.Thr1831Pro)
c.5608A>C (p.Thr1870Pro)
c.5494A>C (p.Thr1832Pro)
c.5557A>C (p.Thr1853Pro)
c.5605A>C (p.Thr1869Pro)
c.5587A>C (p.Thr1863Pro)
c.5515A>C (p.Thr1839Pro)
c.5542A>C (p.Thr1848Pro)
c.5545A>C (p.Thr1849Pro)
c.5584A>C (p.Thr1862Pro)
c.5554A>C (p.Thr1852Pro)
n.2376A>C
c.5449A>C (p.Thr1817Pro)
c.5512A>C (p.Thr1838Pro)
c.5452A>C (p.Thr1818Pro)
c.5650A>C (p.Thr1884Pro)
c.5647A>C (p.Thr1883Pro)
2g.71669173A>GCA347222962DYSFc.3022A>G (p.Thr1008Ala)
c.2239A>G (p.Thr747Ala)
c.2347A>G (p.Thr783Ala)
c.5491A>G (p.Thr1831Ala)
c.5608A>G (p.Thr1870Ala)
c.5494A>G (p.Thr1832Ala)
c.5557A>G (p.Thr1853Ala)
c.5605A>G (p.Thr1869Ala)
c.5587A>G (p.Thr1863Ala)
c.5515A>G (p.Thr1839Ala)
c.5542A>G (p.Thr1848Ala)
c.5545A>G (p.Thr1849Ala)
c.5584A>G (p.Thr1862Ala)
c.5554A>G (p.Thr1852Ala)
n.2376A>G
c.5449A>G (p.Thr1817Ala)
c.5512A>G (p.Thr1838Ala)
c.5452A>G (p.Thr1818Ala)
c.5650A>G (p.Thr1884Ala)
c.5647A>G (p.Thr1883Ala)
 gnomAD v4
2g.71669173A>TCA1707444DYSFc.3022A>T (p.Thr1008Ser)
c.2239A>T (p.Thr747Ser)
c.2347A>T (p.Thr783Ser)
c.5491A>T (p.Thr1831Ser)
c.5608A>T (p.Thr1870Ser)
c.5494A>T (p.Thr1832Ser)
c.5557A>T (p.Thr1853Ser)
c.5605A>T (p.Thr1869Ser)
c.5587A>T (p.Thr1863Ser)
c.5515A>T (p.Thr1839Ser)
c.5542A>T (p.Thr1848Ser)
c.5545A>T (p.Thr1849Ser)
c.5584A>T (p.Thr1862Ser)
c.5554A>T (p.Thr1852Ser)
n.2376A>T
c.5449A>T (p.Thr1817Ser)
c.5512A>T (p.Thr1838Ser)
c.5452A>T (p.Thr1818Ser)
c.5650A>T (p.Thr1884Ser)
c.5647A>T (p.Thr1883Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71669174C>ACA347222967DYSFc.3023C>A (p.Thr1008Lys)
c.2240C>A (p.Thr747Lys)
c.2348C>A (p.Thr783Lys)
c.5492C>A (p.Thr1831Lys)
c.5609C>A (p.Thr1870Lys)
c.5495C>A (p.Thr1832Lys)
c.5558C>A (p.Thr1853Lys)
c.5606C>A (p.Thr1869Lys)
c.5588C>A (p.Thr1863Lys)
c.5516C>A (p.Thr1839Lys)
c.5543C>A (p.Thr1848Lys)
c.5546C>A (p.Thr1849Lys)
c.5585C>A (p.Thr1862Lys)
c.5555C>A (p.Thr1852Lys)
n.2377C>A
c.5450C>A (p.Thr1817Lys)
c.5513C>A (p.Thr1838Lys)
c.5453C>A (p.Thr1818Lys)
c.5651C>A (p.Thr1884Lys)
c.5648C>A (p.Thr1883Lys)
 dbSNP
2g.71669174C=CA1260152211DYSFc.3023C= (p.Thr1008=)
c.2240C= (p.Thr747=)
c.2348C= (p.Thr783=)
c.5492C= (p.Thr1831=)
c.5609C= (p.Thr1870=)
c.5495C= (p.Thr1832=)
c.5558C= (p.Thr1853=)
c.5606C= (p.Thr1869=)
c.5588C= (p.Thr1863=)
c.5516C= (p.Thr1839=)
c.5543C= (p.Thr1848=)
c.5546C= (p.Thr1849=)
c.5585C= (p.Thr1862=)
c.5555C= (p.Thr1852=)
n.2377C=
c.5450C= (p.Thr1817=)
c.5513C= (p.Thr1838=)
c.5453C= (p.Thr1818=)
c.5651C= (p.Thr1884=)
c.5648C= (p.Thr1883=)
2g.71669174C>GCA347222970DYSFc.3023C>G (p.Thr1008Arg)
c.2240C>G (p.Thr747Arg)
c.2348C>G (p.Thr783Arg)
c.5492C>G (p.Thr1831Arg)
c.5609C>G (p.Thr1870Arg)
c.5495C>G (p.Thr1832Arg)
c.5558C>G (p.Thr1853Arg)
c.5606C>G (p.Thr1869Arg)
c.5588C>G (p.Thr1863Arg)
c.5516C>G (p.Thr1839Arg)
c.5543C>G (p.Thr1848Arg)
c.5546C>G (p.Thr1849Arg)
c.5585C>G (p.Thr1862Arg)
c.5555C>G (p.Thr1852Arg)
n.2377C>G
c.5450C>G (p.Thr1817Arg)
c.5513C>G (p.Thr1838Arg)
c.5453C>G (p.Thr1818Arg)
c.5651C>G (p.Thr1884Arg)
c.5648C>G (p.Thr1883Arg)
 gnomAD v4
2g.71669174C>TCA1707445DYSFc.3023C>T (p.Thr1008Met)
c.2240C>T (p.Thr747Met)
c.2348C>T (p.Thr783Met)
c.5492C>T (p.Thr1831Met)
c.5609C>T (p.Thr1870Met)
c.5495C>T (p.Thr1832Met)
c.5558C>T (p.Thr1853Met)
c.5606C>T (p.Thr1869Met)
c.5588C>T (p.Thr1863Met)
c.5516C>T (p.Thr1839Met)
c.5543C>T (p.Thr1848Met)
c.5546C>T (p.Thr1849Met)
c.5585C>T (p.Thr1862Met)
c.5555C>T (p.Thr1852Met)
n.2377C>T
c.5450C>T (p.Thr1817Met)
c.5513C>T (p.Thr1838Met)
c.5453C>T (p.Thr1818Met)
c.5651C>T (p.Thr1884Met)
c.5648C>T (p.Thr1883Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71669175G>ACA1707446DYSFc.3024G>A (p.Thr1008=)
c.2241G>A (p.Thr747=)
c.2349G>A (p.Thr783=)
c.5493G>A (p.Thr1831=)
c.5610G>A (p.Thr1870=)
c.5496G>A (p.Thr1832=)
c.5559G>A (p.Thr1853=)
c.5607G>A (p.Thr1869=)
c.5589G>A (p.Thr1863=)
c.5517G>A (p.Thr1839=)
c.5544G>A (p.Thr1848=)
c.5547G>A (p.Thr1849=)
c.5586G>A (p.Thr1862=)
c.5556G>A (p.Thr1852=)
n.2378G>A
c.5451G>A (p.Thr1817=)
c.5514G>A (p.Thr1838=)
c.5454G>A (p.Thr1818=)
c.5652G>A (p.Thr1884=)
c.5649G>A (p.Thr1883=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.71669175G>CCA426704440DYSFc.3024G>C (p.Thr1008=)
c.2241G>C (p.Thr747=)
c.2349G>C (p.Thr783=)
c.5493G>C (p.Thr1831=)
c.5610G>C (p.Thr1870=)
c.5496G>C (p.Thr1832=)
c.5559G>C (p.Thr1853=)
c.5607G>C (p.Thr1869=)
c.5589G>C (p.Thr1863=)
c.5517G>C (p.Thr1839=)
c.5544G>C (p.Thr1848=)
c.5547G>C (p.Thr1849=)
c.5586G>C (p.Thr1862=)
c.5556G>C (p.Thr1852=)
n.2378G>C
c.5451G>C (p.Thr1817=)
c.5514G>C (p.Thr1838=)
c.5454G>C (p.Thr1818=)
c.5652G>C (p.Thr1884=)
c.5649G>C (p.Thr1883=)
 ClinVar dbSNP
2g.71669175G=CA1260152212DYSFc.3024G= (p.Thr1008=)
c.2241G= (p.Thr747=)
c.2349G= (p.Thr783=)
c.5493G= (p.Thr1831=)
c.5610G= (p.Thr1870=)
c.5496G= (p.Thr1832=)
c.5559G= (p.Thr1853=)
c.5607G= (p.Thr1869=)
c.5589G= (p.Thr1863=)
c.5517G= (p.Thr1839=)
c.5544G= (p.Thr1848=)
c.5547G= (p.Thr1849=)
c.5586G= (p.Thr1862=)
c.5556G= (p.Thr1852=)
n.2378G=
c.5451G= (p.Thr1817=)
c.5514G= (p.Thr1838=)
c.5454G= (p.Thr1818=)
c.5652G= (p.Thr1884=)
c.5649G= (p.Thr1883=)
2g.71669175G>TCA426704441DYSFc.3024G>T (p.Thr1008=)
c.2241G>T (p.Thr747=)
c.2349G>T (p.Thr783=)
c.5493G>T (p.Thr1831=)
c.5610G>T (p.Thr1870=)
c.5496G>T (p.Thr1832=)
c.5559G>T (p.Thr1853=)
c.5607G>T (p.Thr1869=)
c.5589G>T (p.Thr1863=)
c.5517G>T (p.Thr1839=)
c.5544G>T (p.Thr1848=)
c.5547G>T (p.Thr1849=)
c.5586G>T (p.Thr1862=)
c.5556G>T (p.Thr1852=)
n.2378G>T
c.5451G>T (p.Thr1817=)
c.5514G>T (p.Thr1838=)
c.5454G>T (p.Thr1818=)
c.5652G>T (p.Thr1884=)
c.5649G>T (p.Thr1883=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71669179delCA2586969526DYSFc.3028del (p.Glu1010ArgfsTer3)
c.2245del (p.Glu749ArgfsTer3)
c.2353del (p.Glu785ArgfsTer3)
c.5497del (p.Glu1833ArgfsTer3)
c.5614del (p.Glu1872ArgfsTer3)
c.5500del (p.Glu1834ArgfsTer3)
c.5563del (p.Glu1855ArgfsTer3)
c.5611del (p.Glu1871ArgfsTer3)
c.5593del (p.Glu1865ArgfsTer3)
c.5521del (p.Glu1841ArgfsTer3)
c.5548del (p.Glu1850ArgfsTer3)
c.5551del (p.Glu1851ArgfsTer3)
c.5590del (p.Glu1864ArgfsTer3)
c.5560del (p.Glu1854ArgfsTer3)
n.2382del
c.5455del (p.Glu1819ArgfsTer3)
c.5518del (p.Glu1840ArgfsTer3)
c.5458del (p.Glu1820ArgfsTer3)
c.5656del (p.Glu1886ArgfsTer3)
c.5653del (p.Glu1885ArgfsTer3)
 gnomAD v4
2g.71669176G>ACA347222985DYSFc.3025G>A (p.Gly1009Arg)
c.2242G>A (p.Gly748Arg)
c.2350G>A (p.Gly784Arg)
c.5494G>A (p.Gly1832Arg)
c.5611G>A (p.Gly1871Arg)
c.5497G>A (p.Gly1833Arg)
c.5560G>A (p.Gly1854Arg)
c.5608G>A (p.Gly1870Arg)
c.5590G>A (p.Gly1864Arg)
c.5518G>A (p.Gly1840Arg)
c.5545G>A (p.Gly1849Arg)
c.5548G>A (p.Gly1850Arg)
c.5587G>A (p.Gly1863Arg)
c.5557G>A (p.Gly1853Arg)
n.2379G>A
c.5452G>A (p.Gly1818Arg)
c.5515G>A (p.Gly1839Arg)
c.5455G>A (p.Gly1819Arg)
c.5653G>A (p.Gly1885Arg)
c.5650G>A (p.Gly1884Arg)
 ClinVar dbSNP gnomAD v4
2g.71669176G>CCA347222987DYSFc.3025G>C (p.Gly1009Arg)
c.2242G>C (p.Gly748Arg)
c.2350G>C (p.Gly784Arg)
c.5494G>C (p.Gly1832Arg)
c.5611G>C (p.Gly1871Arg)
c.5497G>C (p.Gly1833Arg)
c.5560G>C (p.Gly1854Arg)
c.5608G>C (p.Gly1870Arg)
c.5590G>C (p.Gly1864Arg)
c.5518G>C (p.Gly1840Arg)
c.5545G>C (p.Gly1849Arg)
c.5548G>C (p.Gly1850Arg)
c.5587G>C (p.Gly1863Arg)
c.5557G>C (p.Gly1853Arg)
n.2379G>C
c.5452G>C (p.Gly1818Arg)
c.5515G>C (p.Gly1839Arg)
c.5455G>C (p.Gly1819Arg)
c.5653G>C (p.Gly1885Arg)
c.5650G>C (p.Gly1884Arg)
2g.71669176G>TCA347222989DYSFc.3025G>T (p.Gly1009Trp)
c.2242G>T (p.Gly748Trp)
c.2350G>T (p.Gly784Trp)
c.5494G>T (p.Gly1832Trp)
c.5611G>T (p.Gly1871Trp)
c.5497G>T (p.Gly1833Trp)
c.5560G>T (p.Gly1854Trp)
c.5608G>T (p.Gly1870Trp)
c.5590G>T (p.Gly1864Trp)
c.5518G>T (p.Gly1840Trp)
c.5545G>T (p.Gly1849Trp)
c.5548G>T (p.Gly1850Trp)
c.5587G>T (p.Gly1863Trp)
c.5557G>T (p.Gly1853Trp)
n.2379G>T
c.5452G>T (p.Gly1818Trp)
c.5515G>T (p.Gly1839Trp)
c.5455G>T (p.Gly1819Trp)
c.5653G>T (p.Gly1885Trp)
c.5650G>T (p.Gly1884Trp)
2g.71669177G>ACA1707447DYSFc.3026G>A (p.Gly1009Glu)
c.2243G>A (p.Gly748Glu)
c.2351G>A (p.Gly784Glu)
c.5495G>A (p.Gly1832Glu)
c.5612G>A (p.Gly1871Glu)
c.5498G>A (p.Gly1833Glu)
c.5561G>A (p.Gly1854Glu)
c.5609G>A (p.Gly1870Glu)
c.5591G>A (p.Gly1864Glu)
c.5519G>A (p.Gly1840Glu)
c.5546G>A (p.Gly1849Glu)
c.5549G>A (p.Gly1850Glu)
c.5588G>A (p.Gly1863Glu)
c.5558G>A (p.Gly1853Glu)
n.2380G>A
c.5453G>A (p.Gly1818Glu)
c.5516G>A (p.Gly1839Glu)
c.5456G>A (p.Gly1819Glu)
c.5654G>A (p.Gly1885Glu)
c.5651G>A (p.Gly1884Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71669177G>CCA347222995DYSFc.3026G>C (p.Gly1009Ala)
c.2243G>C (p.Gly748Ala)
c.2351G>C (p.Gly784Ala)
c.5495G>C (p.Gly1832Ala)
c.5612G>C (p.Gly1871Ala)
c.5498G>C (p.Gly1833Ala)
c.5561G>C (p.Gly1854Ala)
c.5609G>C (p.Gly1870Ala)
c.5591G>C (p.Gly1864Ala)
c.5519G>C (p.Gly1840Ala)
c.5546G>C (p.Gly1849Ala)
c.5549G>C (p.Gly1850Ala)
c.5588G>C (p.Gly1863Ala)
c.5558G>C (p.Gly1853Ala)
n.2380G>C
c.5453G>C (p.Gly1818Ala)
c.5516G>C (p.Gly1839Ala)
c.5456G>C (p.Gly1819Ala)
c.5654G>C (p.Gly1885Ala)
c.5651G>C (p.Gly1884Ala)
2g.71669177G=CA1260152213DYSFc.3026G= (p.Gly1009=)
c.2243G= (p.Gly748=)
c.2351G= (p.Gly784=)
c.5495G= (p.Gly1832=)
c.5612G= (p.Gly1871=)
c.5498G= (p.Gly1833=)
c.5561G= (p.Gly1854=)
c.5609G= (p.Gly1870=)
c.5591G= (p.Gly1864=)
c.5519G= (p.Gly1840=)
c.5546G= (p.Gly1849=)
c.5549G= (p.Gly1850=)
c.5588G= (p.Gly1863=)
c.5558G= (p.Gly1853=)
n.2380G=
c.5453G= (p.Gly1818=)
c.5516G= (p.Gly1839=)
c.5456G= (p.Gly1819=)
c.5654G= (p.Gly1885=)
c.5651G= (p.Gly1884=)
2g.71669177G>TCA347222996DYSFc.3026G>T (p.Gly1009Val)
c.2243G>T (p.Gly748Val)
c.2351G>T (p.Gly784Val)
c.5495G>T (p.Gly1832Val)
c.5612G>T (p.Gly1871Val)
c.5498G>T (p.Gly1833Val)
c.5561G>T (p.Gly1854Val)
c.5609G>T (p.Gly1870Val)
c.5591G>T (p.Gly1864Val)
c.5519G>T (p.Gly1840Val)
c.5546G>T (p.Gly1849Val)
c.5549G>T (p.Gly1850Val)
c.5588G>T (p.Gly1863Val)
c.5558G>T (p.Gly1853Val)
n.2380G>T
c.5453G>T (p.Gly1818Val)
c.5516G>T (p.Gly1839Val)
c.5456G>T (p.Gly1819Val)
c.5654G>T (p.Gly1885Val)
c.5651G>T (p.Gly1884Val)
 dbSNP
2g.71669178G>ACA426704443DYSFc.3027G>A (p.Gly1009=)
c.2244G>A (p.Gly748=)
c.2352G>A (p.Gly784=)
c.5496G>A (p.Gly1832=)
c.5613G>A (p.Gly1871=)
c.5499G>A (p.Gly1833=)
c.5562G>A (p.Gly1854=)
c.5610G>A (p.Gly1870=)
c.5592G>A (p.Gly1864=)
c.5520G>A (p.Gly1840=)
c.5547G>A (p.Gly1849=)
c.5550G>A (p.Gly1850=)
c.5589G>A (p.Gly1863=)
c.5559G>A (p.Gly1853=)
n.2381G>A
c.5454G>A (p.Gly1818=)
c.5517G>A (p.Gly1839=)
c.5457G>A (p.Gly1819=)
c.5655G>A (p.Gly1885=)
c.5652G>A (p.Gly1884=)
 gnomAD v4 COSMIC COSMIC
2g.71669178G>CCA426704444DYSFc.3027G>C (p.Gly1009=)
c.2244G>C (p.Gly748=)
c.2352G>C (p.Gly784=)
c.5496G>C (p.Gly1832=)
c.5613G>C (p.Gly1871=)
c.5499G>C (p.Gly1833=)
c.5562G>C (p.Gly1854=)
c.5610G>C (p.Gly1870=)
c.5592G>C (p.Gly1864=)
c.5520G>C (p.Gly1840=)
c.5547G>C (p.Gly1849=)
c.5550G>C (p.Gly1850=)
c.5589G>C (p.Gly1863=)
c.5559G>C (p.Gly1853=)
n.2381G>C
c.5454G>C (p.Gly1818=)
c.5517G>C (p.Gly1839=)
c.5457G>C (p.Gly1819=)
c.5655G>C (p.Gly1885=)
c.5652G>C (p.Gly1884=)
2g.71669178G>TCA426704445DYSFc.3027G>T (p.Gly1009=)
c.2244G>T (p.Gly748=)
c.2352G>T (p.Gly784=)
c.5496G>T (p.Gly1832=)
c.5613G>T (p.Gly1871=)
c.5499G>T (p.Gly1833=)
c.5562G>T (p.Gly1854=)
c.5610G>T (p.Gly1870=)
c.5592G>T (p.Gly1864=)
c.5520G>T (p.Gly1840=)
c.5547G>T (p.Gly1849=)
c.5550G>T (p.Gly1850=)
c.5589G>T (p.Gly1863=)
c.5559G>T (p.Gly1853=)
n.2381G>T
c.5454G>T (p.Gly1818=)
c.5517G>T (p.Gly1839=)
c.5457G>T (p.Gly1819=)
c.5655G>T (p.Gly1885=)
c.5652G>T (p.Gly1884=)
2g.71669179G>ACA1707448DYSFc.3028G>A (p.Glu1010Lys)
c.2245G>A (p.Glu749Lys)
c.2353G>A (p.Glu785Lys)
c.5497G>A (p.Glu1833Lys)
c.5614G>A (p.Glu1872Lys)
c.5500G>A (p.Glu1834Lys)
c.5563G>A (p.Glu1855Lys)
c.5611G>A (p.Glu1871Lys)
c.5593G>A (p.Glu1865Lys)
c.5521G>A (p.Glu1841Lys)
c.5548G>A (p.Glu1850Lys)
c.5551G>A (p.Glu1851Lys)
c.5590G>A (p.Glu1864Lys)
c.5560G>A (p.Glu1854Lys)
n.2382G>A
c.5455G>A (p.Glu1819Lys)
c.5518G>A (p.Glu1840Lys)
c.5458G>A (p.Glu1820Lys)
c.5656G>A (p.Glu1886Lys)
c.5653G>A (p.Glu1885Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71669179G>CCA347223001DYSFc.3028G>C (p.Glu1010Gln)
c.2245G>C (p.Glu749Gln)
c.2353G>C (p.Glu785Gln)
c.5497G>C (p.Glu1833Gln)
c.5614G>C (p.Glu1872Gln)
c.5500G>C (p.Glu1834Gln)
c.5563G>C (p.Glu1855Gln)
c.5611G>C (p.Glu1871Gln)
c.5593G>C (p.Glu1865Gln)
c.5521G>C (p.Glu1841Gln)
c.5548G>C (p.Glu1850Gln)
c.5551G>C (p.Glu1851Gln)
c.5590G>C (p.Glu1864Gln)
c.5560G>C (p.Glu1854Gln)
n.2382G>C
c.5455G>C (p.Glu1819Gln)
c.5518G>C (p.Glu1840Gln)
c.5458G>C (p.Glu1820Gln)
c.5656G>C (p.Glu1886Gln)
c.5653G>C (p.Glu1885Gln)
 dbSNP gnomAD v4
2g.71669179G=CA1260152214DYSFc.3028G= (p.Glu1010=)
c.2245G= (p.Glu749=)
c.2353G= (p.Glu785=)
c.5497G= (p.Glu1833=)
c.5614G= (p.Glu1872=)
c.5500G= (p.Glu1834=)
c.5563G= (p.Glu1855=)
c.5611G= (p.Glu1871=)
c.5593G= (p.Glu1865=)
c.5521G= (p.Glu1841=)
c.5548G= (p.Glu1850=)
c.5551G= (p.Glu1851=)
c.5590G= (p.Glu1864=)
c.5560G= (p.Glu1854=)
n.2382G=
c.5455G= (p.Glu1819=)
c.5518G= (p.Glu1840=)
c.5458G= (p.Glu1820=)
c.5656G= (p.Glu1886=)
c.5653G= (p.Glu1885=)
2g.71669179G>TCA222188DYSFc.3028G>T (p.Glu1010Ter)
c.2245G>T (p.Glu749Ter)
c.2353G>T (p.Glu785Ter)
c.5497G>T (p.Glu1833Ter)
c.5614G>T (p.Glu1872Ter)
c.5500G>T (p.Glu1834Ter)
c.5563G>T (p.Glu1855Ter)
c.5611G>T (p.Glu1871Ter)
c.5593G>T (p.Glu1865Ter)
c.5521G>T (p.Glu1841Ter)
c.5548G>T (p.Glu1850Ter)
c.5551G>T (p.Glu1851Ter)
c.5590G>T (p.Glu1864Ter)
c.5560G>T (p.Glu1854Ter)
n.2382G>T
c.5455G>T (p.Glu1819Ter)
c.5518G>T (p.Glu1840Ter)
c.5458G>T (p.Glu1820Ter)
c.5656G>T (p.Glu1886Ter)
c.5653G>T (p.Glu1885Ter)
 ClinVar dbSNP
2g.71669180A=CA1260152215DYSFc.3029A= (p.Glu1010=)
c.2246A= (p.Glu749=)
c.2354A= (p.Glu785=)
c.5498A= (p.Glu1833=)
c.5615A= (p.Glu1872=)
c.5501A= (p.Glu1834=)
c.5564A= (p.Glu1855=)
c.5612A= (p.Glu1871=)
c.5594A= (p.Glu1865=)
c.5522A= (p.Glu1841=)
c.5549A= (p.Glu1850=)
c.5552A= (p.Glu1851=)
c.5591A= (p.Glu1864=)
c.5561A= (p.Glu1854=)
n.2383A=
c.5456A= (p.Glu1819=)
c.5519A= (p.Glu1840=)
c.5459A= (p.Glu1820=)
c.5657A= (p.Glu1886=)
c.5654A= (p.Glu1885=)
2g.71669180A>CCA1707449DYSFc.3029A>C (p.Glu1010Ala)
c.2246A>C (p.Glu749Ala)
c.2354A>C (p.Glu785Ala)
c.5498A>C (p.Glu1833Ala)
c.5615A>C (p.Glu1872Ala)
c.5501A>C (p.Glu1834Ala)
c.5564A>C (p.Glu1855Ala)
c.5612A>C (p.Glu1871Ala)
c.5594A>C (p.Glu1865Ala)
c.5522A>C (p.Glu1841Ala)
c.5549A>C (p.Glu1850Ala)
c.5552A>C (p.Glu1851Ala)
c.5591A>C (p.Glu1864Ala)
c.5561A>C (p.Glu1854Ala)
n.2383A>C
c.5456A>C (p.Glu1819Ala)
c.5519A>C (p.Glu1840Ala)
c.5459A>C (p.Glu1820Ala)
c.5657A>C (p.Glu1886Ala)
c.5654A>C (p.Glu1885Ala)
 dbSNP ExAC gnomAD v4
2g.71669180A>GCA347223008DYSFc.3029A>G (p.Glu1010Gly)
c.2246A>G (p.Glu749Gly)
c.2354A>G (p.Glu785Gly)
c.5498A>G (p.Glu1833Gly)
c.5615A>G (p.Glu1872Gly)
c.5501A>G (p.Glu1834Gly)
c.5564A>G (p.Glu1855Gly)
c.5612A>G (p.Glu1871Gly)
c.5594A>G (p.Glu1865Gly)
c.5522A>G (p.Glu1841Gly)
c.5549A>G (p.Glu1850Gly)
c.5552A>G (p.Glu1851Gly)
c.5591A>G (p.Glu1864Gly)
c.5561A>G (p.Glu1854Gly)
n.2383A>G
c.5456A>G (p.Glu1819Gly)
c.5519A>G (p.Glu1840Gly)
c.5459A>G (p.Glu1820Gly)
c.5657A>G (p.Glu1886Gly)
c.5654A>G (p.Glu1885Gly)
2g.71669180A>TCA347223011DYSFc.3029A>T (p.Glu1010Val)
c.2246A>T (p.Glu749Val)
c.2354A>T (p.Glu785Val)
c.5498A>T (p.Glu1833Val)
c.5615A>T (p.Glu1872Val)
c.5501A>T (p.Glu1834Val)
c.5564A>T (p.Glu1855Val)
c.5612A>T (p.Glu1871Val)
c.5594A>T (p.Glu1865Val)
c.5522A>T (p.Glu1841Val)
c.5549A>T (p.Glu1850Val)
c.5552A>T (p.Glu1851Val)
c.5591A>T (p.Glu1864Val)
c.5561A>T (p.Glu1854Val)
n.2383A>T
c.5456A>T (p.Glu1819Val)
c.5519A>T (p.Glu1840Val)
c.5459A>T (p.Glu1820Val)
c.5657A>T (p.Glu1886Val)
c.5654A>T (p.Glu1885Val)
2g.71669181G>ACA426704450DYSFc.3030G>A (p.Glu1010=)
c.2247G>A (p.Glu749=)
c.2355G>A (p.Glu785=)
c.5499G>A (p.Glu1833=)
c.5616G>A (p.Glu1872=)
c.5502G>A (p.Glu1834=)
c.5565G>A (p.Glu1855=)
c.5613G>A (p.Glu1871=)
c.5595G>A (p.Glu1865=)
c.5523G>A (p.Glu1841=)
c.5550G>A (p.Glu1850=)
c.5553G>A (p.Glu1851=)
c.5592G>A (p.Glu1864=)
c.5562G>A (p.Glu1854=)
n.2384G>A
c.5457G>A (p.Glu1819=)
c.5520G>A (p.Glu1840=)
c.5460G>A (p.Glu1820=)
c.5658G>A (p.Glu1886=)
c.5655G>A (p.Glu1885=)
2g.71669181G>CCA347223012DYSFc.3030G>C (p.Glu1010Asp)
c.2247G>C (p.Glu749Asp)
c.2355G>C (p.Glu785Asp)
c.5499G>C (p.Glu1833Asp)
c.5616G>C (p.Glu1872Asp)
c.5502G>C (p.Glu1834Asp)
c.5565G>C (p.Glu1855Asp)
c.5613G>C (p.Glu1871Asp)
c.5595G>C (p.Glu1865Asp)
c.5523G>C (p.Glu1841Asp)
c.5550G>C (p.Glu1850Asp)
c.5553G>C (p.Glu1851Asp)
c.5592G>C (p.Glu1864Asp)
c.5562G>C (p.Glu1854Asp)
n.2384G>C
c.5457G>C (p.Glu1819Asp)
c.5520G>C (p.Glu1840Asp)
c.5460G>C (p.Glu1820Asp)
c.5658G>C (p.Glu1886Asp)
c.5655G>C (p.Glu1885Asp)
 dbSNP gnomAD v4
2g.71669181G=CA1260152216DYSFc.3030G= (p.Glu1010=)
c.2247G= (p.Glu749=)
c.2355G= (p.Glu785=)
c.5499G= (p.Glu1833=)
c.5616G= (p.Glu1872=)
c.5502G= (p.Glu1834=)
c.5565G= (p.Glu1855=)
c.5613G= (p.Glu1871=)
c.5595G= (p.Glu1865=)
c.5523G= (p.Glu1841=)
c.5550G= (p.Glu1850=)
c.5553G= (p.Glu1851=)
c.5592G= (p.Glu1864=)
c.5562G= (p.Glu1854=)
n.2384G=
c.5457G= (p.Glu1819=)
c.5520G= (p.Glu1840=)
c.5460G= (p.Glu1820=)
c.5658G= (p.Glu1886=)
c.5655G= (p.Glu1885=)
2g.71669181G>TCA347223014DYSFc.3030G>T (p.Glu1010Asp)
c.2247G>T (p.Glu749Asp)
c.2355G>T (p.Glu785Asp)
c.5499G>T (p.Glu1833Asp)
c.5616G>T (p.Glu1872Asp)
c.5502G>T (p.Glu1834Asp)
c.5565G>T (p.Glu1855Asp)
c.5613G>T (p.Glu1871Asp)
c.5595G>T (p.Glu1865Asp)
c.5523G>T (p.Glu1841Asp)
c.5550G>T (p.Glu1850Asp)
c.5553G>T (p.Glu1851Asp)
c.5592G>T (p.Glu1864Asp)
c.5562G>T (p.Glu1854Asp)
n.2384G>T
c.5457G>T (p.Glu1819Asp)
c.5520G>T (p.Glu1840Asp)
c.5460G>T (p.Glu1820Asp)
c.5658G>T (p.Glu1886Asp)
c.5655G>T (p.Glu1885Asp)
2g.71669182A=CA1260152217DYSFc.3031A= (p.Lys1011=)
c.2248A= (p.Lys750=)
c.2356A= (p.Lys786=)
c.5500A= (p.Lys1834=)
c.5617A= (p.Lys1873=)
c.5503A= (p.Lys1835=)
c.5566A= (p.Lys1856=)
c.5614A= (p.Lys1872=)
c.5596A= (p.Lys1866=)
c.5524A= (p.Lys1842=)
c.5551A= (p.Lys1851=)
c.5554A= (p.Lys1852=)
c.5593A= (p.Lys1865=)
c.5563A= (p.Lys1855=)
n.2385A=
c.5458A= (p.Lys1820=)
c.5521A= (p.Lys1841=)
c.5461A= (p.Lys1821=)
c.5659A= (p.Lys1887=)
c.5656A= (p.Lys1886=)
2g.71669182A>CCA347223017DYSFc.3031A>C (p.Lys1011Gln)
c.2248A>C (p.Lys750Gln)
c.2356A>C (p.Lys786Gln)
c.5500A>C (p.Lys1834Gln)
c.5617A>C (p.Lys1873Gln)
c.5503A>C (p.Lys1835Gln)
c.5566A>C (p.Lys1856Gln)
c.5614A>C (p.Lys1872Gln)
c.5596A>C (p.Lys1866Gln)
c.5524A>C (p.Lys1842Gln)
c.5551A>C (p.Lys1851Gln)
c.5554A>C (p.Lys1852Gln)
c.5593A>C (p.Lys1865Gln)
c.5563A>C (p.Lys1855Gln)
n.2385A>C
c.5458A>C (p.Lys1820Gln)
c.5521A>C (p.Lys1841Gln)
c.5461A>C (p.Lys1821Gln)
c.5659A>C (p.Lys1887Gln)
c.5656A>C (p.Lys1886Gln)
2g.71669182A>GCA347223020DYSFc.3031A>G (p.Lys1011Glu)
c.2248A>G (p.Lys750Glu)
c.2356A>G (p.Lys786Glu)
c.5500A>G (p.Lys1834Glu)
c.5617A>G (p.Lys1873Glu)
c.5503A>G (p.Lys1835Glu)
c.5566A>G (p.Lys1856Glu)
c.5614A>G (p.Lys1872Glu)
c.5596A>G (p.Lys1866Glu)
c.5524A>G (p.Lys1842Glu)
c.5551A>G (p.Lys1851Glu)
c.5554A>G (p.Lys1852Glu)
c.5593A>G (p.Lys1865Glu)
c.5563A>G (p.Lys1855Glu)
n.2385A>G
c.5458A>G (p.Lys1820Glu)
c.5521A>G (p.Lys1841Glu)
c.5461A>G (p.Lys1821Glu)
c.5659A>G (p.Lys1887Glu)
c.5656A>G (p.Lys1886Glu)
2g.71669182A>TCA347223021DYSFc.3031A>T (p.Lys1011Ter)
c.2248A>T (p.Lys750Ter)
c.2356A>T (p.Lys786Ter)
c.5500A>T (p.Lys1834Ter)
c.5617A>T (p.Lys1873Ter)
c.5503A>T (p.Lys1835Ter)
c.5566A>T (p.Lys1856Ter)
c.5614A>T (p.Lys1872Ter)
c.5596A>T (p.Lys1866Ter)
c.5524A>T (p.Lys1842Ter)
c.5551A>T (p.Lys1851Ter)
c.5554A>T (p.Lys1852Ter)
c.5593A>T (p.Lys1865Ter)
c.5563A>T (p.Lys1855Ter)
n.2385A>T
c.5458A>T (p.Lys1820Ter)
c.5521A>T (p.Lys1841Ter)
c.5461A>T (p.Lys1821Ter)
c.5659A>T (p.Lys1887Ter)
c.5656A>T (p.Lys1886Ter)
 ClinVar dbSNP
2g.71669183A>CCA347223025DYSFc.3032A>C (p.Lys1011Thr)
c.2249A>C (p.Lys750Thr)
c.2357A>C (p.Lys786Thr)
c.5501A>C (p.Lys1834Thr)
c.5618A>C (p.Lys1873Thr)
c.5504A>C (p.Lys1835Thr)
c.5567A>C (p.Lys1856Thr)
c.5615A>C (p.Lys1872Thr)
c.5597A>C (p.Lys1866Thr)
c.5525A>C (p.Lys1842Thr)
c.5552A>C (p.Lys1851Thr)
c.5555A>C (p.Lys1852Thr)
c.5594A>C (p.Lys1865Thr)
c.5564A>C (p.Lys1855Thr)
n.2386A>C
c.5459A>C (p.Lys1820Thr)
c.5522A>C (p.Lys1841Thr)
c.5462A>C (p.Lys1821Thr)
c.5660A>C (p.Lys1887Thr)
c.5657A>C (p.Lys1886Thr)
2g.71669183A>GCA347223027DYSFc.3032A>G (p.Lys1011Arg)
c.2249A>G (p.Lys750Arg)
c.2357A>G (p.Lys786Arg)
c.5501A>G (p.Lys1834Arg)
c.5618A>G (p.Lys1873Arg)
c.5504A>G (p.Lys1835Arg)
c.5567A>G (p.Lys1856Arg)
c.5615A>G (p.Lys1872Arg)
c.5597A>G (p.Lys1866Arg)
c.5525A>G (p.Lys1842Arg)
c.5552A>G (p.Lys1851Arg)
c.5555A>G (p.Lys1852Arg)
c.5594A>G (p.Lys1865Arg)
c.5564A>G (p.Lys1855Arg)
n.2386A>G
c.5459A>G (p.Lys1820Arg)
c.5522A>G (p.Lys1841Arg)
c.5462A>G (p.Lys1821Arg)
c.5660A>G (p.Lys1887Arg)
c.5657A>G (p.Lys1886Arg)
2g.71669183A>TCA347223029DYSFc.3032A>T (p.Lys1011Met)
c.2249A>T (p.Lys750Met)
c.2357A>T (p.Lys786Met)
c.5501A>T (p.Lys1834Met)
c.5618A>T (p.Lys1873Met)
c.5504A>T (p.Lys1835Met)
c.5567A>T (p.Lys1856Met)
c.5615A>T (p.Lys1872Met)
c.5597A>T (p.Lys1866Met)
c.5525A>T (p.Lys1842Met)
c.5552A>T (p.Lys1851Met)
c.5555A>T (p.Lys1852Met)
c.5594A>T (p.Lys1865Met)
c.5564A>T (p.Lys1855Met)
n.2386A>T
c.5459A>T (p.Lys1820Met)
c.5522A>T (p.Lys1841Met)
c.5462A>T (p.Lys1821Met)
c.5660A>T (p.Lys1887Met)
c.5657A>T (p.Lys1886Met)

Number of alleles fetched