Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.71669087G>A | CA533264576 | DYSF | c.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 |
2 | g.71669087G= | CA1260152168 | DYSF | c.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=) | |
2 | g.71669087G>T | CA1707432 | DYSF | c.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 |
2 | g.71669092A>G | CA2659555450 | DYSF | c.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 |
2 | g.71669093G>C | CA1260152170 | DYSF | c.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 |
2 | g.71669093G= | CA1260152169 | DYSF | c.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=) | |
2 | g.71669094A= | CA1260152171 | DYSF | c.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=) | |
2 | g.71669094A>C | CA2739271053 | DYSF | c.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 |
2 | g.71669094A>G | CA49768983 | DYSF | c.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 |
2 | g.71669095G>A | CA2659555451 | DYSF | c.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 |
2 | g.71669095G>C | CA2659555452 | DYSF | c.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 |
2 | g.71669097_71669113del | CA1139532905 | DYSF | c.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 | |
2 | g.71669096T>C | CA533264577 | DYSF | c.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 |
2 | g.71669096T= | CA1260152172 | DYSF | c.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=) | |
2 | g.71669097G>A | CA2659555453 | DYSF | c.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 |
2 | g.71669097G>C | CA2699656081 | DYSF | c.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 |
2 | g.71669097G>T | CA2659555454 | DYSF | c.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 |
2 | g.71669098A>T | CA2573135972 | DYSF | c.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 |
2 | g.71669099T>C | CA2499216231 | DYSF | c.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 |
2 | g.71669100A>G | CA2659555455 | DYSF | c.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 |
2 | g.71669101C= | CA1260152173 | DYSF | c.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=) | |
2 | g.71669101C>T | CA1707433 | DYSF | c.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 |
2 | g.71669102C>A | CA2659555456 | DYSF | c.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 |
2 | g.71669102C= | CA1260152174 | DYSF | c.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=) | |
2 | g.71669102C>G | CA2577000806 | DYSF | c.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 |
2 | g.71669102C>T | CA533264578 | DYSF | c.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 |
2 | g.71669103T>C | CA533264579 | DYSF | c.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 |
2 | g.71669103T= | CA1260152175 | DYSF | c.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=) | |
2 | g.71669106C>A | CA2659555457 | DYSF | c.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 |
2 | g.71669107C>T | CA2577000807 | DYSF | c.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 |
2 | g.71669108C>A | CA2580067828 | DYSF | c.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 |
2 | g.71669108C= | CA1260152176 | DYSF | c.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=) | |
2 | g.71669108C>T | CA1707434 | DYSF | c.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 |
2 | g.71669109C>A | CA2659555458 | DYSF | c.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 |
2 | g.71669109C>T | CA2659555459 | DYSF | c.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 |
2 | g.71669110A= | CA1260152177 | DYSF | c.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=) | |
2 | g.71669110A>C | CA347222044 | DYSF | c.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) | |
2 | g.71669110A>G | CA347222046 | DYSF | c.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 |
2 | g.71669110A>T | CA347222048 | DYSF | c.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 |
2 | g.71669110_71669112delinsAGG | CA1260152178 | DYSF | c.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 | |
2 | g.71669111G>A | CA347222049 | DYSF | c.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) | |
2 | g.71669111G>C | CA347222051 | DYSF | c.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 |
2 | g.71669111G= | CA1260152179 | DYSF | c.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=) | |
2 | g.71669111G>T | CA347222053 | DYSF | c.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) | |
2 | g.71669111_71669112delinsA | CA916564169 | DYSF | c.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 |
2 | g.71669112G>A | CA426704303 | DYSF | c.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 |
2 | g.71669112G>C | CA347222055 | DYSF | c.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) | |
2 | g.71669112G= | CA1260152180 | DYSF | c.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=) | |
2 | g.71669112G>T | CA347222056 | DYSF | c.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 |
2 | g.71669113T>A | CA347222058 | DYSF | c.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 |
2 | g.71669113T>C | CA347222061 | DYSF | c.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) | |
2 | g.71669113T>G | CA347222063 | DYSF | c.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) | |
2 | g.71669117del | CA2659555460 | DYSF | c.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 |
2 | g.71669114T>A | CA347222065 | DYSF | c.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) | |
2 | g.71669114T>C | CA347222067 | DYSF | c.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) | |
2 | g.71669114T>G | CA347222069 | DYSF | c.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) | |
2 | g.71669115T>A | CA347222071 | DYSF | c.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) | |
2 | g.71669115T>C | CA426704305 | DYSF | c.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 |
2 | g.71669115T>G | CA347222072 | DYSF | c.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 |
2 | g.71669116T>A | CA347222074 | DYSF | c.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) | |
2 | g.71669116T>C | CA347222076 | DYSF | c.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) | |
2 | g.71669116T>G | CA347222077 | DYSF | c.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) | |
2 | g.71669117T>A | CA347222082 | DYSF | c.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) | |
2 | g.71669117T>C | CA347222084 | DYSF | c.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 |
2 | g.71669117T>G | CA347222080 | DYSF | c.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) | |
2 | g.71669118C>A | CA347222087 | DYSF | c.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) | |
2 | g.71669118C>G | CA347222088 | DYSF | c.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) | |
2 | g.71669118C>T | CA426704309 | DYSF | c.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=) | |
2 | g.71669119C>A | CA347222090 | DYSF | c.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 |
2 | g.71669119C>G | CA347222092 | DYSF | c.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) | |
2 | g.71669119C>T | CA426704310 | DYSF | c.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=) | |
2 | g.71669120T>A | CA347222094 | DYSF | c.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) | |
2 | g.71669120T>C | CA347222095 | DYSF | c.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 |
2 | g.71669120T>G | CA347222097 | DYSF | c.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) | |
2 | g.71669121G>A | CA426704312 | DYSF | c.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 |
2 | g.71669121G>C | CA426704313 | DYSF | c.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=) | |
2 | g.71669121G= | CA1260152181 | DYSF | c.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=) | |
2 | g.71669121G>T | CA426704315 | DYSF | c.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 |
2 | g.71669122C>A | CA347222100 | DYSF | c.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) | |
2 | g.71669122C= | CA1260152182 | DYSF | c.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=) | |
2 | g.71669122C>G | CA347222102 | DYSF | c.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 |
2 | g.71669122C>T | CA347222104 | DYSF | c.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 |
2 | g.71669123G>A | CA222186 | DYSF | c.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 |
2 | g.71669123G>C | CA347222675 | DYSF | c.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) | |
2 | g.71669123G= | CA1260152183 | DYSF | c.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=) | |
2 | g.71669123G>T | CA347222677 | DYSF | c.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 |
2 | g.71669124T>A | CA426704382 | DYSF | c.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=) | |
2 | g.71669124T>C | CA426704381 | DYSF | c.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 |
2 | g.71669124T>G | CA426704380 | DYSF | c.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=) | |
2 | g.71669125dup | CA2659555461 | DYSF | c.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 |
2 | g.71669125T>A | CA347222683 | DYSF | c.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) | |
2 | g.71669125T>C | CA347222681 | DYSF | c.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 |
2 | g.71669125T>G | CA347222679 | DYSF | c.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) | |
2 | g.71669125T= | CA1260152184 | DYSF | c.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=) | |
2 | g.71669126G>A | CA347222684 | DYSF | c.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) | |
2 | g.71669126G>C | CA347222688 | DYSF | c.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) | |
2 | g.71669126G= | CA1260152185 | DYSF | c.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=) | |
2 | g.71669126G>T | CA10604436 | DYSF | c.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 |
2 | g.71669127T>A | CA347222692 | DYSF | c.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 |
2 | g.71669127T>C | CA426704384 | DYSF | c.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=) | |
2 | g.71669127T>G | CA347222694 | DYSF | c.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) | |
2 | g.71669127T= | CA1260152186 | DYSF | c.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=) | |
2 | g.71669128del | CA2580067833 | DYSF | c.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 |
2 | g.71669128A= | CA1260152187 | DYSF | c.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=) | |
2 | g.71669128A>C | CA347222697 | DYSF | c.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) | |
2 | g.71669128A>G | CA347222698 | DYSF | c.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 |
2 | g.71669128A>T | CA347222700 | DYSF | c.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) | |
2 | g.71669129T>A | CA347222703 | DYSF | c.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) | |
2 | g.71669129T>C | CA347222706 | DYSF | c.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) | |
2 | g.71669129T>G | CA347222708 | DYSF | c.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) | |
2 | g.71669130del | CA2659555462 | DYSF | c.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 |
2 | g.71669130T>A | CA426704385 | DYSF | c.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=) | |
2 | g.71669130T>C | CA426704386 | DYSF | c.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 |
2 | g.71669130T>G | CA347222710 | DYSF | c.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) | |
2 | g.71669130T= | CA1260152188 | DYSF | c.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=) | |
2 | g.71669131A>C | CA347222715 | DYSF | c.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) | |
2 | g.71669131A>G | CA347222714 | DYSF | c.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) | |
2 | g.71669131A>T | CA347222713 | DYSF | c.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) | |
2 | g.71669132T>A | CA347222716 | DYSF | c.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 |
2 | g.71669132T>C | CA347222718 | DYSF | c.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) | |
2 | g.71669132T>G | CA347222717 | DYSF | c.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) | |
2 | g.71669133C>A | CA426704390 | DYSF | c.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 |
2 | g.71669133C>G | CA347222719 | DYSF | c.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) | |
2 | g.71669133C>T | CA426704391 | DYSF | c.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=) | |
2 | g.71669134T>A | CA347222721 | DYSF | c.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 |
2 | g.71669134T>C | CA347222723 | DYSF | c.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) | |
2 | g.71669134T>G | CA347222725 | DYSF | c.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) | |
2 | g.71669135G>A | CA347222726 | DYSF | c.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 |
2 | g.71669135G>C | CA347222728 | DYSF | c.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) | |
2 | g.71669135G>T | CA347222732 | DYSF | c.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 |
2 | g.71669136del | CA2659555463 | DYSF | c.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 |
2 | g.71669136G>A | CA347222734 | DYSF | c.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 |
2 | g.71669136G>C | CA347222737 | DYSF | c.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 |
2 | g.71669136G= | CA1260152189 | DYSF | c.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=) | |
2 | g.71669136G>T | CA347222740 | DYSF | c.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) | |
2 | g.71669137A>C | CA347222742 | DYSF | c.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) | |
2 | g.71669137A>G | CA347222745 | DYSF | c.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) | |
2 | g.71669137A>T | CA347222747 | DYSF | c.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 |
2 | g.71669138A= | CA1260152190 | DYSF | c.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=) | |
2 | g.71669138A>C | CA347222749 | DYSF | c.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) | |
2 | g.71669138A>G | CA347222755 | DYSF | c.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 |
2 | g.71669138A>T | CA347222753 | DYSF | c.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) | |
2 | g.71669139T>A | CA347222758 | DYSF | c.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) | |
2 | g.71669139T>C | CA426704395 | DYSF | c.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=) | |
2 | g.71669139T>G | CA347222760 | DYSF | c.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) | |
2 | g.71669140A>C | CA347222763 | DYSF | c.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) | |
2 | g.71669140A>G | CA347222766 | DYSF | c.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) | |
2 | g.71669140A>T | CA347222767 | DYSF | c.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) | |
2 | g.71669141C>A | CA347222770 | DYSF | c.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) | |
2 | g.71669141C= | CA1260152191 | DYSF | c.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=) | |
2 | g.71669141C>G | CA347222772 | DYSF | c.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 |
2 | g.71669141C>T | CA347222775 | DYSF | c.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) | |
2 | g.71669142C>A | CA426704399 | DYSF | c.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=) | |
2 | g.71669142C>G | CA426704400 | DYSF | c.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=) | |
2 | g.71669142C>T | CA426704401 | DYSF | c.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=) | |
2 | g.71669143A>C | CA426704402 | DYSF | c.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=) | |
2 | g.71669143A>G | CA347222790 | DYSF | c.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) | |
2 | g.71669143A>T | CA347222793 | DYSF | c.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 |
2 | g.71669144G>A | CA347222801 | DYSF | c.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) | |
2 | g.71669144G>C | CA347222799 | DYSF | c.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) | |
2 | g.71669144G>T | CA347222797 | DYSF | c.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 |
2 | g.71669145A>C | CA347222804 | DYSF | c.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) | |
2 | g.71669145A>G | CA426704406 | DYSF | c.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=) | |
2 | g.71669145A>T | CA347222806 | DYSF | c.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 |
2 | g.71669146G>A | CA347222808 | DYSF | c.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) | |
2 | g.71669146G>C | CA347222810 | DYSF | c.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) | |
2 | g.71669146G>T | CA347222813 | DYSF | c.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 |
2 | g.71669147A= | CA1260152192 | DYSF | c.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=) | |
2 | g.71669147A>C | CA347222820 | DYSF | c.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) | |
2 | g.71669147A>G | CA347222818 | DYSF | c.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 |
2 | g.71669147A>T | CA347222817 | DYSF | c.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 |
2 | g.71669148T>A | CA347222821 | DYSF | c.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) | |
2 | g.71669148T>C | CA1707435 | DYSF | c.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 |
2 | g.71669148T>G | CA347222827 | DYSF | c.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) | |
2 | g.71669148T= | CA1260152193 | DYSF | c.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=) | |
2 | g.71669149G>A | CA347222831 | DYSF | c.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 |
2 | g.71669149G>C | CA347222834 | DYSF | c.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) | |
2 | g.71669149G>T | CA347222835 | DYSF | c.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) | |
2 | g.71669150T>A | CA10605398 | DYSF | c.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 |
2 | g.71669150T>C | CA347222843 | DYSF | c.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 |
2 | g.71669150T>G | CA347222841 | DYSF | c.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 |
2 | g.71669150T= | CA1260152194 | DYSF | c.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=) | |
2 | g.71669151G>A | CA426704410 | DYSF | c.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 |
2 | g.71669151G>C | CA1707436 | DYSF | c.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 |
2 | g.71669151G= | CA1260152195 | DYSF | c.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=) | |
2 | g.71669151G>T | CA426704411 | DYSF | c.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=) | |
2 | g.71669152A= | CA1260152196 | DYSF | c.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=) | |
2 | g.71669152A>C | CA347222849 | DYSF | c.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) | |
2 | g.71669152A>G | CA347222851 | DYSF | c.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 |
2 | g.71669152A>T | CA347222853 | DYSF | c.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) | |
2 | g.71669153T>A | CA347222854 | DYSF | c.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) | |
2 | g.71669153T>C | CA347222856 | DYSF | c.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) | |
2 | g.71669153T>G | CA347222859 | DYSF | c.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) | |
2 | g.71669154C>A | CA426704413 | DYSF | c.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 |
2 | g.71669154C= | CA1260152197 | DYSF | c.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=) | |
2 | g.71669154C>G | CA347222862 | DYSF | c.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) | |
2 | g.71669154C>T | CA1707437 | DYSF | c.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 |
2 | g.71669155C>A | CA347222867 | DYSF | c.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 |
2 | g.71669155C>G | CA347222869 | DYSF | c.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) | |
2 | g.71669155C>T | CA426704415 | DYSF | c.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=) | |
2 | g.71669156T>A | CA347222873 | DYSF | c.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 |
2 | g.71669156T>C | CA1707438 | DYSF | c.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 |
2 | g.71669156T>G | CA347222871 | DYSF | c.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) | |
2 | g.71669156T= | CA1260152198 | DYSF | c.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=) | |
2 | g.71669157G>A | CA426704418 | DYSF | c.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 |
2 | g.71669157G>C | CA426704416 | DYSF | c.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=) | |
2 | g.71669157G>T | CA426704417 | DYSF | c.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=) | |
2 | g.71669158G>A | CA347222880 | DYSF | c.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 |
2 | g.71669158G>C | CA347222877 | DYSF | c.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) | |
2 | g.71669158G= | CA1260152199 | DYSF | c.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=) | |
2 | g.71669158G>T | CA347222881 | DYSF | c.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) | |
2 | g.71669159A= | CA1260152200 | DYSF | c.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=) | |
2 | g.71669159A>C | CA347222885 | DYSF | c.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) | |
2 | g.71669159A>G | CA1707439 | DYSF | c.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 |
2 | g.71669159A>T | CA347222888 | DYSF | c.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) | |
2 | g.71669160T>A | CA347222891 | DYSF | c.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) | |
2 | g.71669160T>C | CA426704422 | DYSF | c.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=) | |
2 | g.71669160T>G | CA347222894 | DYSF | c.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) | |
2 | g.71669161G>A | CA1707440 | DYSF | c.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 |
2 | g.71669161G>C | CA347222899 | DYSF | c.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) | |
2 | g.71669161G= | CA1260152201 | DYSF | c.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=) | |
2 | g.71669161G>T | CA347222901 | DYSF | c.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) | |
2 | g.71669162A= | CA1260152202 | DYSF | c.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=) | |
2 | g.71669162A>C | CA347222904 | DYSF | c.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) | |
2 | g.71669162A>G | CA347222906 | DYSF | c.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 |
2 | g.71669162A>T | CA347222909 | DYSF | c.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) | |
2 | g.71669163C>A | CA1707441 | DYSF | c.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 |
2 | g.71669163C= | CA1260152203 | DYSF | c.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=) | |
2 | g.71669163C>G | CA347222912 | DYSF | c.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) | |
2 | g.71669163C>T | CA426704426 | DYSF | c.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 |
2 | g.71669164C>A | CA347222914 | DYSF | c.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) | |
2 | g.71669164C= | CA1260152204 | DYSF | c.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=) | |
2 | g.71669164C>G | CA347222916 | DYSF | c.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) | |
2 | g.71669164C>T | CA426704427 | DYSF | c.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 |
2 | g.71669165T>A | CA347222922 | DYSF | c.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) | |
2 | g.71669165T>C | CA347222919 | DYSF | c.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 |
2 | g.71669165T>G | CA347222920 | DYSF | c.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) | |
2 | g.71669166G>A | CA426704428 | DYSF | c.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=) | |
2 | g.71669166G>C | CA426704429 | DYSF | c.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 |
2 | g.71669166G>T | CA426704430 | DYSF | c.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=) | |
2 | g.71669167A= | CA1260152205 | DYSF | c.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=) | |
2 | g.71669167A>C | CA347222926 | DYSF | c.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) | |
2 | g.71669167A>G | CA1707442 | DYSF | c.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 |
2 | g.71669167A>T | CA347222930 | DYSF | c.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) | |
2 | g.71669168G>A | CA1707443 | DYSF | c.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 |
2 | g.71669168G>C | CA347222940 | DYSF | c.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) | |
2 | g.71669168G= | CA1260152206 | DYSF | c.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=) | |
2 | g.71669168G>T | CA347222941 | DYSF | c.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) | |
2 | g.71669169C>A | CA347222944 | DYSF | c.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) | |
2 | g.71669169C= | CA1260152207 | DYSF | c.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=) | |
2 | g.71669169C>G | CA347222947 | DYSF | c.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) | |
2 | g.71669169C>T | CA426704434 | DYSF | c.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 |
2 | g.71669170C>A | CA347222949 | DYSF | c.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) | |
2 | g.71669170C= | CA1260152208 | DYSF | c.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=) | |
2 | g.71669170C>G | CA347222951 | DYSF | c.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) | |
2 | g.71669170C>T | CA347222953 | DYSF | c.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 |
2 | g.71669171T>A | CA347222960 | DYSF | c.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) | |
2 | g.71669171T>C | CA347222959 | DYSF | c.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 |
2 | g.71669171T>G | CA347222956 | DYSF | c.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) | |
2 | g.71669172C>A | CA426704437 | DYSF | c.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 |
2 | g.71669172C= | CA1260152209 | DYSF | c.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=) | |
2 | g.71669172C>G | CA426704438 | DYSF | c.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=) | |
2 | g.71669172C>T | CA426704439 | DYSF | c.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=) | |
2 | g.71669173A= | CA1260152210 | DYSF | c.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=) | |
2 | g.71669173A>C | CA347222965 | DYSF | c.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) | |
2 | g.71669173A>G | CA347222962 | DYSF | c.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 |
2 | g.71669173A>T | CA1707444 | DYSF | c.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 |
2 | g.71669174C>A | CA347222967 | DYSF | c.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 |
2 | g.71669174C= | CA1260152211 | DYSF | c.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=) | |
2 | g.71669174C>G | CA347222970 | DYSF | c.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 |
2 | g.71669174C>T | CA1707445 | DYSF | c.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 |
2 | g.71669175G>A | CA1707446 | DYSF | c.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 |
2 | g.71669175G>C | CA426704440 | DYSF | c.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 |
2 | g.71669175G= | CA1260152212 | DYSF | c.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=) | |
2 | g.71669175G>T | CA426704441 | DYSF | c.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 |
2 | g.71669179dup | CA2832534109 | DYSF | c.3028dup (p.Glu1010GlyfsTer16) c.2245dup (p.Glu749GlyfsTer16) c.2353dup (p.Glu785GlyfsTer16) c.5497dup (p.Glu1833GlyfsTer16) c.5614dup (p.Glu1872GlyfsTer16) c.5500dup (p.Glu1834GlyfsTer16) c.5563dup (p.Glu1855GlyfsTer16) c.5611dup (p.Glu1871GlyfsTer16) c.5593dup (p.Glu1865GlyfsTer16) c.5521dup (p.Glu1841GlyfsTer16) c.5548dup (p.Glu1850GlyfsTer16) c.5551dup (p.Glu1851GlyfsTer16) c.5590dup (p.Glu1864GlyfsTer16) c.5560dup (p.Glu1854GlyfsTer16) n.2382dup c.5455dup (p.Glu1819GlyfsTer16) c.5518dup (p.Glu1840GlyfsTer16) c.5458dup (p.Glu1820GlyfsTer16) c.5656dup (p.Glu1886GlyfsTer16) c.5653dup (p.Glu1885GlyfsTer16) | |
2 | g.71669179del | CA2586969526 | DYSF | c.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 |
2 | g.71669176G>A | CA347222985 | DYSF | c.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 |
2 | g.71669176G>C | CA347222987 | DYSF | c.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) | |
2 | g.71669176G>T | CA347222989 | DYSF | c.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) | |
2 | g.71669177G>A | CA1707447 | DYSF | c.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 |
2 | g.71669177G>C | CA347222995 | DYSF | c.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) | |
2 | g.71669177G= | CA1260152213 | DYSF | c.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=) | |
2 | g.71669177G>T | CA347222996 | DYSF | c.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 |
2 | g.71669178G>A | CA426704443 | DYSF | c.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 |
2 | g.71669178G>C | CA426704444 | DYSF | c.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=) | |
2 | g.71669178G>T | CA426704445 | DYSF | c.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=) | |
2 | g.71669179G>A | CA1707448 | DYSF | c.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 |
2 | g.71669179G>C | CA347223001 | DYSF | c.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 |
2 | g.71669179G= | CA1260152214 | DYSF | c.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=) | |
2 | g.71669179G>T | CA222188 | DYSF | c.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 |
2 | g.71669180A= | CA1260152215 | DYSF | c.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=) | |
2 | g.71669180A>C | CA1707449 | DYSF | c.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 |
2 | g.71669180A>G | CA347223008 | DYSF | c.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) | |
2 | g.71669180A>T | CA347223011 | DYSF | c.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) | |
2 | g.71669181G>A | CA426704450 | DYSF | c.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=) | |
2 | g.71669181G>C | CA347223012 | DYSF | c.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 |
2 | g.71669181G= | CA1260152216 | DYSF | c.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=) | |
2 | g.71669181G>T | CA347223014 | DYSF | c.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) | |
2 | g.71669182A= | CA1260152217 | DYSF | c.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=) | |
2 | g.71669182A>C | CA347223017 | DYSF | c.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) | |
2 | g.71669182A>G | CA347223020 | DYSF | c.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) | |
2 | g.71669182A>T | CA347223021 | DYSF | c.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 |
2 | g.71669183A>C | CA347223025 | DYSF | c.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) | |
2 | g.71669183A>G | CA347223027 | DYSF | c.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) | |
2 | g.71669183A>T | CA347223029 | DYSF | c.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) | |
2 | g.71669184G>A | CA426704451 | DYSF | c.3033G>A (p.Lys1011=) c.2250G>A (p.Lys750=) c.2358G>A (p.Lys786=) c.5502G>A (p.Lys1834=) c.5619G>A (p.Lys1873=) c.5505G>A (p.Lys1835=) c.5568G>A (p.Lys1856=) c.5616G>A (p.Lys1872=) c.5598G>A (p.Lys1866=) c.5526G>A (p.Lys1842=) c.5553G>A (p.Lys1851=) c.5556G>A (p.Lys1852=) c.5595G>A (p.Lys1865=) c.5565G>A (p.Lys1855=) n.2387G>A c.5460G>A (p.Lys1820=) c.5523G>A (p.Lys1841=) c.5463G>A (p.Lys1821=) c.5661G>A (p.Lys1887=) c.5658G>A (p.Lys1886=) | dbSNP gnomAD v2 |
2 | g.71669184G>C | CA347223031 | DYSF | c.3033G>C (p.Lys1011Asn) c.2250G>C (p.Lys750Asn) c.2358G>C (p.Lys786Asn) c.5502G>C (p.Lys1834Asn) c.5619G>C (p.Lys1873Asn) c.5505G>C (p.Lys1835Asn) c.5568G>C (p.Lys1856Asn) c.5616G>C (p.Lys1872Asn) c.5598G>C (p.Lys1866Asn) c.5526G>C (p.Lys1842Asn) c.5553G>C (p.Lys1851Asn) c.5556G>C (p.Lys1852Asn) c.5595G>C (p.Lys1865Asn) c.5565G>C (p.Lys1855Asn) n.2387G>C c.5460G>C (p.Lys1820Asn) c.5523G>C (p.Lys1841Asn) c.5463G>C (p.Lys1821Asn) c.5661G>C (p.Lys1887Asn) c.5658G>C (p.Lys1886Asn) | gnomAD v4 |
2 | g.71669184G= | CA1260152218 | DYSF | c.3033G= (p.Lys1011=) c.2250G= (p.Lys750=) c.2358G= (p.Lys786=) c.5502G= (p.Lys1834=) c.5619G= (p.Lys1873=) c.5505G= (p.Lys1835=) c.5568G= (p.Lys1856=) c.5616G= (p.Lys1872=) c.5598G= (p.Lys1866=) c.5526G= (p.Lys1842=) c.5553G= (p.Lys1851=) c.5556G= (p.Lys1852=) c.5595G= (p.Lys1865=) c.5565G= (p.Lys1855=) n.2387G= c.5460G= (p.Lys1820=) c.5523G= (p.Lys1841=) c.5463G= (p.Lys1821=) c.5661G= (p.Lys1887=) c.5658G= (p.Lys1886=) | |
2 | g.71669184G>T | CA347223032 | DYSF | c.3033G>T (p.Lys1011Asn) c.2250G>T (p.Lys750Asn) c.2358G>T (p.Lys786Asn) c.5502G>T (p.Lys1834Asn) c.5619G>T (p.Lys1873Asn) c.5505G>T (p.Lys1835Asn) c.5568G>T (p.Lys1856Asn) c.5616G>T (p.Lys1872Asn) c.5598G>T (p.Lys1866Asn) c.5526G>T (p.Lys1842Asn) c.5553G>T (p.Lys1851Asn) c.5556G>T (p.Lys1852Asn) c.5595G>T (p.Lys1865Asn) c.5565G>T (p.Lys1855Asn) n.2387G>T c.5460G>T (p.Lys1820Asn) c.5523G>T (p.Lys1841Asn) c.5463G>T (p.Lys1821Asn) c.5661G>T (p.Lys1887Asn) c.5658G>T (p.Lys1886Asn) | |
2 | g.71669185A= | CA1260152219 | DYSF | c.3034A= (p.Met1012=) c.2251A= (p.Met751=) c.2359A= (p.Met787=) c.5503A= (p.Met1835=) c.5620A= (p.Met1874=) c.5506A= (p.Met1836=) c.5569A= (p.Met1857=) c.5617A= (p.Met1873=) c.5599A= (p.Met1867=) c.5527A= (p.Met1843=) c.5554A= (p.Met1852=) c.5557A= (p.Met1853=) c.5596A= (p.Met1866=) c.5566A= (p.Met1856=) n.2388A= c.5461A= (p.Met1821=) c.5524A= (p.Met1842=) c.5464A= (p.Met1822=) c.5662A= (p.Met1888=) c.5659A= (p.Met1887=) | |
2 | g.71669185A>C | CA347223038 | DYSF | c.3034A>C (p.Met1012Leu) c.2251A>C (p.Met751Leu) c.2359A>C (p.Met787Leu) c.5503A>C (p.Met1835Leu) c.5620A>C (p.Met1874Leu) c.5506A>C (p.Met1836Leu) c.5569A>C (p.Met1857Leu) c.5617A>C (p.Met1873Leu) c.5599A>C (p.Met1867Leu) c.5527A>C (p.Met1843Leu) c.5554A>C (p.Met1852Leu) c.5557A>C (p.Met1853Leu) c.5596A>C (p.Met1866Leu) c.5566A>C (p.Met1856Leu) n.2388A>C c.5461A>C (p.Met1821Leu) c.5524A>C (p.Met1842Leu) c.5464A>C (p.Met1822Leu) c.5662A>C (p.Met1888Leu) c.5659A>C (p.Met1887Leu) | |
2 | g.71669185A>G | CA347223040 | DYSF | c.3034A>G (p.Met1012Val) c.2251A>G (p.Met751Val) c.2359A>G (p.Met787Val) c.5503A>G (p.Met1835Val) c.5620A>G (p.Met1874Val) c.5506A>G (p.Met1836Val) c.5569A>G (p.Met1857Val) c.5617A>G (p.Met1873Val) c.5599A>G (p.Met1867Val) c.5527A>G (p.Met1843Val) c.5554A>G (p.Met1852Val) c.5557A>G (p.Met1853Val) c.5596A>G (p.Met1866Val) c.5566A>G (p.Met1856Val) n.2388A>G c.5461A>G (p.Met1821Val) c.5524A>G (p.Met1842Val) c.5464A>G (p.Met1822Val) c.5662A>G (p.Met1888Val) c.5659A>G (p.Met1887Val) | ClinVar dbSNP |
2 | g.71669185A>T | CA347223035 | DYSF | c.3034A>T (p.Met1012Leu) c.2251A>T (p.Met751Leu) c.2359A>T (p.Met787Leu) c.5503A>T (p.Met1835Leu) c.5620A>T (p.Met1874Leu) c.5506A>T (p.Met1836Leu) c.5569A>T (p.Met1857Leu) c.5617A>T (p.Met1873Leu) c.5599A>T (p.Met1867Leu) c.5527A>T (p.Met1843Leu) c.5554A>T (p.Met1852Leu) c.5557A>T (p.Met1853Leu) c.5596A>T (p.Met1866Leu) c.5566A>T (p.Met1856Leu) n.2388A>T c.5461A>T (p.Met1821Leu) c.5524A>T (p.Met1842Leu) c.5464A>T (p.Met1822Leu) c.5662A>T (p.Met1888Leu) c.5659A>T (p.Met1887Leu) | |
2 | g.71669186del | CA2580067838 | DYSF | c.3035del (p.Met1012ArgfsTer6) c.2252del (p.Met751ArgfsTer6) c.2360del (p.Met787ArgfsTer6) c.5504del (p.Met1835ArgfsTer6) c.5621del (p.Met1874ArgfsTer6) c.5507del (p.Met1836ArgfsTer6) c.5570del (p.Met1857ArgfsTer6) c.5618del (p.Met1873ArgfsTer6) c.5600del (p.Met1867ArgfsTer6) c.5528del (p.Met1843ArgfsTer6) c.5555del (p.Met1852ArgfsTer6) c.5558del (p.Met1853ArgfsTer6) c.5597del (p.Met1866ArgfsTer6) c.5567del (p.Met1856ArgfsTer6) n.2389del c.5462del (p.Met1821ArgfsTer6) c.5525del (p.Met1842ArgfsTer6) c.5465del (p.Met1822ArgfsTer6) c.5663del (p.Met1888ArgfsTer6) c.5660del (p.Met1887ArgfsTer6) | ClinVar dbSNP |
2 | g.71669186T>A | CA347223043 | DYSF | c.3035T>A (p.Met1012Lys) c.2252T>A (p.Met751Lys) c.2360T>A (p.Met787Lys) c.5504T>A (p.Met1835Lys) c.5621T>A (p.Met1874Lys) c.5507T>A (p.Met1836Lys) c.5570T>A (p.Met1857Lys) c.5618T>A (p.Met1873Lys) c.5600T>A (p.Met1867Lys) c.5528T>A (p.Met1843Lys) c.5555T>A (p.Met1852Lys) c.5558T>A (p.Met1853Lys) c.5597T>A (p.Met1866Lys) c.5567T>A (p.Met1856Lys) n.2389T>A c.5462T>A (p.Met1821Lys) c.5525T>A (p.Met1842Lys) c.5465T>A (p.Met1822Lys) c.5663T>A (p.Met1888Lys) c.5660T>A (p.Met1887Lys) | |
2 | g.71669186T>C | CA347223047 | DYSF | c.3035T>C (p.Met1012Thr) c.2252T>C (p.Met751Thr) c.2360T>C (p.Met787Thr) c.5504T>C (p.Met1835Thr) c.5621T>C (p.Met1874Thr) c.5507T>C (p.Met1836Thr) c.5570T>C (p.Met1857Thr) c.5618T>C (p.Met1873Thr) c.5600T>C (p.Met1867Thr) c.5528T>C (p.Met1843Thr) c.5555T>C (p.Met1852Thr) c.5558T>C (p.Met1853Thr) c.5597T>C (p.Met1866Thr) c.5567T>C (p.Met1856Thr) n.2389T>C c.5462T>C (p.Met1821Thr) c.5525T>C (p.Met1842Thr) c.5465T>C (p.Met1822Thr) c.5663T>C (p.Met1888Thr) c.5660T>C (p.Met1887Thr) | |
2 | g.71669186T>G | CA347223045 | DYSF | c.3035T>G (p.Met1012Arg) c.2252T>G (p.Met751Arg) c.2360T>G (p.Met787Arg) c.5504T>G (p.Met1835Arg) c.5621T>G (p.Met1874Arg) c.5507T>G (p.Met1836Arg) c.5570T>G (p.Met1857Arg) c.5618T>G (p.Met1873Arg) c.5600T>G (p.Met1867Arg) c.5528T>G (p.Met1843Arg) c.5555T>G (p.Met1852Arg) c.5558T>G (p.Met1853Arg) c.5597T>G (p.Met1866Arg) c.5567T>G (p.Met1856Arg) n.2389T>G c.5462T>G (p.Met1821Arg) c.5525T>G (p.Met1842Arg) c.5465T>G (p.Met1822Arg) c.5663T>G (p.Met1888Arg) c.5660T>G (p.Met1887Arg) | |
2 | g.71669187G>A | CA347223051 | DYSF | c.3036G>A (p.Met1012Ile) c.2253G>A (p.Met751Ile) c.2361G>A (p.Met787Ile) c.5505G>A (p.Met1835Ile) c.5622G>A (p.Met1874Ile) c.5508G>A (p.Met1836Ile) c.5571G>A (p.Met1857Ile) c.5619G>A (p.Met1873Ile) c.5601G>A (p.Met1867Ile) c.5529G>A (p.Met1843Ile) c.5556G>A (p.Met1852Ile) c.5559G>A (p.Met1853Ile) c.5598G>A (p.Met1866Ile) c.5568G>A (p.Met1856Ile) n.2390G>A c.5463G>A (p.Met1821Ile) c.5526G>A (p.Met1842Ile) c.5466G>A (p.Met1822Ile) c.5664G>A (p.Met1888Ile) c.5661G>A (p.Met1887Ile) | gnomAD v4 |
2 | g.71669187G>C | CA347223053 | DYSF | c.3036G>C (p.Met1012Ile) c.2253G>C (p.Met751Ile) c.2361G>C (p.Met787Ile) c.5505G>C (p.Met1835Ile) c.5622G>C (p.Met1874Ile) c.5508G>C (p.Met1836Ile) c.5571G>C (p.Met1857Ile) c.5619G>C (p.Met1873Ile) c.5601G>C (p.Met1867Ile) c.5529G>C (p.Met1843Ile) c.5556G>C (p.Met1852Ile) c.5559G>C (p.Met1853Ile) c.5598G>C (p.Met1866Ile) c.5568G>C (p.Met1856Ile) n.2390G>C c.5463G>C (p.Met1821Ile) c.5526G>C (p.Met1842Ile) c.5466G>C (p.Met1822Ile) c.5664G>C (p.Met1888Ile) c.5661G>C (p.Met1887Ile) | |
2 | g.71669187G>T | CA347223055 | DYSF | c.3036G>T (p.Met1012Ile) c.2253G>T (p.Met751Ile) c.2361G>T (p.Met787Ile) c.5505G>T (p.Met1835Ile) c.5622G>T (p.Met1874Ile) c.5508G>T (p.Met1836Ile) c.5571G>T (p.Met1857Ile) c.5619G>T (p.Met1873Ile) c.5601G>T (p.Met1867Ile) c.5529G>T (p.Met1843Ile) c.5556G>T (p.Met1852Ile) c.5559G>T (p.Met1853Ile) c.5598G>T (p.Met1866Ile) c.5568G>T (p.Met1856Ile) n.2390G>T c.5463G>T (p.Met1821Ile) c.5526G>T (p.Met1842Ile) c.5466G>T (p.Met1822Ile) c.5664G>T (p.Met1888Ile) c.5661G>T (p.Met1887Ile) |