Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.71678997_71679008delinsGTGGCTACAGGC | CA1260156792 | DYSF | c.3299-60_3299-49delinsGTGGCTACAGGC (n.3299-60_3299-49delinsGTGGCTACAGGC) c.2516-60_2516-49delinsGTGGCTACAGGC (n.2516-60_2516-49delinsGTGGCTACAGGC) c.2624-60_2624-49delinsGTGGCTACAGGC (n.2624-60_2624-49delinsGTGGCTACAGGC) c.5768-60_5768-49delinsGTGGCTACAGGC (n.5768-60_5768-49delinsGTGGCTACAGGC) c.5885-60_5885-49delinsGTGGCTACAGGC (n.5885-60_5885-49delinsGTGGCTACAGGC) c.5771-60_5771-49delinsGTGGCTACAGGC (n.5771-60_5771-49delinsGTGGCTACAGGC) c.5834-60_5834-49delinsGTGGCTACAGGC (n.5834-60_5834-49delinsGTGGCTACAGGC) c.5882-60_5882-49delinsGTGGCTACAGGC (n.5882-60_5882-49delinsGTGGCTACAGGC) c.5864-60_5864-49delinsGTGGCTACAGGC (n.5864-60_5864-49delinsGTGGCTACAGGC) c.5792-60_5792-49delinsGTGGCTACAGGC (n.5792-60_5792-49delinsGTGGCTACAGGC) c.5819-60_5819-49delinsGTGGCTACAGGC (n.5819-60_5819-49delinsGTGGCTACAGGC) c.5822-60_5822-49delinsGTGGCTACAGGC (n.5822-60_5822-49delinsGTGGCTACAGGC) c.5861-60_5861-49delinsGTGGCTACAGGC (n.5861-60_5861-49delinsGTGGCTACAGGC) c.5831-60_5831-49delinsGTGGCTACAGGC (n.5831-60_5831-49delinsGTGGCTACAGGC) n.2653-60_2653-49delinsGTGGCTACAGGC c.5726-60_5726-49delinsGTGGCTACAGGC (n.5726-60_5726-49delinsGTGGCTACAGGC) c.5789-60_5789-49delinsGTGGCTACAGGC (n.5789-60_5789-49delinsGTGGCTACAGGC) c.5729-60_5729-49delinsGTGGCTACAGGC (n.5729-60_5729-49delinsGTGGCTACAGGC) c.5927-60_5927-49delinsGTGGCTACAGGC (n.5927-60_5927-49delinsGTGGCTACAGGC) c.5924-60_5924-49delinsGTGGCTACAGGC (n.5924-60_5924-49delinsGTGGCTACAGGC) | |
2 | g.71679002_71679012del | CA1260156793 | DYSF | c.3299-55_3299-45del (n.3299-55_3299-45del) c.2516-55_2516-45del (n.2516-55_2516-45del) c.2624-55_2624-45del (n.2624-55_2624-45del) c.5768-55_5768-45del (n.5768-55_5768-45del) c.5885-55_5885-45del (n.5885-55_5885-45del) c.5771-55_5771-45del (n.5771-55_5771-45del) c.5834-55_5834-45del (n.5834-55_5834-45del) c.5882-55_5882-45del (n.5882-55_5882-45del) c.5864-55_5864-45del (n.5864-55_5864-45del) c.5792-55_5792-45del (n.5792-55_5792-45del) c.5819-55_5819-45del (n.5819-55_5819-45del) c.5822-55_5822-45del (n.5822-55_5822-45del) c.5861-55_5861-45del (n.5861-55_5861-45del) c.5831-55_5831-45del (n.5831-55_5831-45del) n.2653-55_2653-45del c.5726-55_5726-45del (n.5726-55_5726-45del) c.5789-55_5789-45del (n.5789-55_5789-45del) c.5729-55_5729-45del (n.5729-55_5729-45del) c.5927-55_5927-45del (n.5927-55_5927-45del) c.5924-55_5924-45del (n.5924-55_5924-45del) | dbSNP gnomAD v4 |
2 | g.71679006G>T | CA2659556008 | DYSF | c.3299-51G>T (n.3299-51G>T) c.2516-51G>T (n.2516-51G>T) c.2624-51G>T (n.2624-51G>T) c.5768-51G>T (n.5768-51G>T) c.5885-51G>T (n.5885-51G>T) c.5771-51G>T (n.5771-51G>T) c.5834-51G>T (n.5834-51G>T) c.5882-51G>T (n.5882-51G>T) c.5864-51G>T (n.5864-51G>T) c.5792-51G>T (n.5792-51G>T) c.5819-51G>T (n.5819-51G>T) c.5822-51G>T (n.5822-51G>T) c.5861-51G>T (n.5861-51G>T) c.5831-51G>T (n.5831-51G>T) n.2653-51G>T c.5726-51G>T (n.5726-51G>T) c.5789-51G>T (n.5789-51G>T) c.5729-51G>T (n.5729-51G>T) c.5927-51G>T (n.5927-51G>T) c.5924-51G>T (n.5924-51G>T) | gnomAD v4 |
2 | g.71679007G>A | CA2659556009 | DYSF | c.3299-50G>A (n.3299-50G>A) c.2516-50G>A (n.2516-50G>A) c.2624-50G>A (n.2624-50G>A) c.5768-50G>A (n.5768-50G>A) c.5885-50G>A (n.5885-50G>A) c.5771-50G>A (n.5771-50G>A) c.5834-50G>A (n.5834-50G>A) c.5882-50G>A (n.5882-50G>A) c.5864-50G>A (n.5864-50G>A) c.5792-50G>A (n.5792-50G>A) c.5819-50G>A (n.5819-50G>A) c.5822-50G>A (n.5822-50G>A) c.5861-50G>A (n.5861-50G>A) c.5831-50G>A (n.5831-50G>A) n.2653-50G>A c.5726-50G>A (n.5726-50G>A) c.5789-50G>A (n.5789-50G>A) c.5729-50G>A (n.5729-50G>A) c.5927-50G>A (n.5927-50G>A) c.5924-50G>A (n.5924-50G>A) | gnomAD v4 |
2 | g.71679007G= | CA1260156798 | DYSF | c.3299-50G= (n.3299-50G=) c.2516-50G= (n.2516-50G=) c.2624-50G= (n.2624-50G=) c.5768-50G= (n.5768-50G=) c.5885-50G= (n.5885-50G=) c.5771-50G= (n.5771-50G=) c.5834-50G= (n.5834-50G=) c.5882-50G= (n.5882-50G=) c.5864-50G= (n.5864-50G=) c.5792-50G= (n.5792-50G=) c.5819-50G= (n.5819-50G=) c.5822-50G= (n.5822-50G=) c.5861-50G= (n.5861-50G=) c.5831-50G= (n.5831-50G=) n.2653-50G= c.5726-50G= (n.5726-50G=) c.5789-50G= (n.5789-50G=) c.5729-50G= (n.5729-50G=) c.5927-50G= (n.5927-50G=) c.5924-50G= (n.5924-50G=) | |
2 | g.71679007G>T | CA1707532 | DYSF | c.3299-50G>T (n.3299-50G>T) c.2516-50G>T (n.2516-50G>T) c.2624-50G>T (n.2624-50G>T) c.5768-50G>T (n.5768-50G>T) c.5885-50G>T (n.5885-50G>T) c.5771-50G>T (n.5771-50G>T) c.5834-50G>T (n.5834-50G>T) c.5882-50G>T (n.5882-50G>T) c.5864-50G>T (n.5864-50G>T) c.5792-50G>T (n.5792-50G>T) c.5819-50G>T (n.5819-50G>T) c.5822-50G>T (n.5822-50G>T) c.5861-50G>T (n.5861-50G>T) c.5831-50G>T (n.5831-50G>T) n.2653-50G>T c.5726-50G>T (n.5726-50G>T) c.5789-50G>T (n.5789-50G>T) c.5729-50G>T (n.5729-50G>T) c.5927-50G>T (n.5927-50G>T) c.5924-50G>T (n.5924-50G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679008C>A | CA2659556010 | DYSF | c.3299-49C>A (n.3299-49C>A) c.2516-49C>A (n.2516-49C>A) c.2624-49C>A (n.2624-49C>A) c.5768-49C>A (n.5768-49C>A) c.5885-49C>A (n.5885-49C>A) c.5771-49C>A (n.5771-49C>A) c.5834-49C>A (n.5834-49C>A) c.5882-49C>A (n.5882-49C>A) c.5864-49C>A (n.5864-49C>A) c.5792-49C>A (n.5792-49C>A) c.5819-49C>A (n.5819-49C>A) c.5822-49C>A (n.5822-49C>A) c.5861-49C>A (n.5861-49C>A) c.5831-49C>A (n.5831-49C>A) n.2653-49C>A c.5726-49C>A (n.5726-49C>A) c.5789-49C>A (n.5789-49C>A) c.5729-49C>A (n.5729-49C>A) c.5927-49C>A (n.5927-49C>A) c.5924-49C>A (n.5924-49C>A) | gnomAD v4 |
2 | g.71679010G>A | CA2659556012 | DYSF | c.3299-47G>A (n.3299-47G>A) c.2516-47G>A (n.2516-47G>A) c.2624-47G>A (n.2624-47G>A) c.5768-47G>A (n.5768-47G>A) c.5885-47G>A (n.5885-47G>A) c.5771-47G>A (n.5771-47G>A) c.5834-47G>A (n.5834-47G>A) c.5882-47G>A (n.5882-47G>A) c.5864-47G>A (n.5864-47G>A) c.5792-47G>A (n.5792-47G>A) c.5819-47G>A (n.5819-47G>A) c.5822-47G>A (n.5822-47G>A) c.5861-47G>A (n.5861-47G>A) c.5831-47G>A (n.5831-47G>A) n.2653-47G>A c.5726-47G>A (n.5726-47G>A) c.5789-47G>A (n.5789-47G>A) c.5729-47G>A (n.5729-47G>A) c.5927-47G>A (n.5927-47G>A) c.5924-47G>A (n.5924-47G>A) | gnomAD v4 |
2 | g.71679010G>T | CA2659556011 | DYSF | c.3299-47G>T (n.3299-47G>T) c.2516-47G>T (n.2516-47G>T) c.2624-47G>T (n.2624-47G>T) c.5768-47G>T (n.5768-47G>T) c.5885-47G>T (n.5885-47G>T) c.5771-47G>T (n.5771-47G>T) c.5834-47G>T (n.5834-47G>T) c.5882-47G>T (n.5882-47G>T) c.5864-47G>T (n.5864-47G>T) c.5792-47G>T (n.5792-47G>T) c.5819-47G>T (n.5819-47G>T) c.5822-47G>T (n.5822-47G>T) c.5861-47G>T (n.5861-47G>T) c.5831-47G>T (n.5831-47G>T) n.2653-47G>T c.5726-47G>T (n.5726-47G>T) c.5789-47G>T (n.5789-47G>T) c.5729-47G>T (n.5729-47G>T) c.5927-47G>T (n.5927-47G>T) c.5924-47G>T (n.5924-47G>T) | gnomAD v4 |
2 | g.71679011del | CA2577000903 | DYSF | c.3299-46del (n.3299-46del) c.2516-46del (n.2516-46del) c.2624-46del (n.2624-46del) c.5768-46del (n.5768-46del) c.5885-46del (n.5885-46del) c.5771-46del (n.5771-46del) c.5834-46del (n.5834-46del) c.5882-46del (n.5882-46del) c.5864-46del (n.5864-46del) c.5792-46del (n.5792-46del) c.5819-46del (n.5819-46del) c.5822-46del (n.5822-46del) c.5861-46del (n.5861-46del) c.5831-46del (n.5831-46del) n.2653-46del c.5726-46del (n.5726-46del) c.5789-46del (n.5789-46del) c.5729-46del (n.5729-46del) c.5927-46del (n.5927-46del) c.5924-46del (n.5924-46del) | gnomAD v4 |
2 | g.71679030_71679031insAGGCAGGGCAGTGATCGAGAAACCCTT | CA2659556013 | DYSF | c.3299-27_3299-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.3299-27_3299-26insAGGCAGGGCAGTGATCGAGAAACCCTT) c.2516-27_2516-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.2516-27_2516-26insAGGCAGGGCAGTGATCGAGAAACCCTT) c.2624-27_2624-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.2624-27_2624-26insAGGCAGGGCAGTGATCGAGAAACCCTT) c.5768-27_5768-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5768-27_5768-26insAGGCAGGGCAGTGATCGAGAAACCCTT) c.5885-27_5885-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5885-27_5885-26insAGGCAGGGCAGTGATCGAGAAACCCTT) c.5771-27_5771-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5771-27_5771-26insAGGCAGGGCAGTGATCGAGAAACCCTT) c.5834-27_5834-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5834-27_5834-26insAGGCAGGGCAGTGATCGAGAAACCCTT) c.5882-27_5882-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5882-27_5882-26insAGGCAGGGCAGTGATCGAGAAACCCTT) c.5864-27_5864-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5864-27_5864-26insAGGCAGGGCAGTGATCGAGAAACCCTT) c.5792-27_5792-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5792-27_5792-26insAGGCAGGGCAGTGATCGAGAAACCCTT) c.5819-27_5819-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5819-27_5819-26insAGGCAGGGCAGTGATCGAGAAACCCTT) c.5822-27_5822-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5822-27_5822-26insAGGCAGGGCAGTGATCGAGAAACCCTT) c.5861-27_5861-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5861-27_5861-26insAGGCAGGGCAGTGATCGAGAAACCCTT) c.5831-27_5831-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5831-27_5831-26insAGGCAGGGCAGTGATCGAGAAACCCTT) n.2653-27_2653-26insAGGCAGGGCAGTGATCGAGAAACCCTT c.5726-27_5726-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5726-27_5726-26insAGGCAGGGCAGTGATCGAGAAACCCTT) c.5789-27_5789-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5789-27_5789-26insAGGCAGGGCAGTGATCGAGAAACCCTT) c.5729-27_5729-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5729-27_5729-26insAGGCAGGGCAGTGATCGAGAAACCCTT) c.5927-27_5927-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5927-27_5927-26insAGGCAGGGCAGTGATCGAGAAACCCTT) c.5924-27_5924-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5924-27_5924-26insAGGCAGGGCAGTGATCGAGAAACCCTT) | gnomAD v4 |
2 | g.71679011G>A | CA533655818 | DYSF | c.3299-46G>A (n.3299-46G>A) c.2516-46G>A (n.2516-46G>A) c.2624-46G>A (n.2624-46G>A) c.5768-46G>A (n.5768-46G>A) c.5885-46G>A (n.5885-46G>A) c.5771-46G>A (n.5771-46G>A) c.5834-46G>A (n.5834-46G>A) c.5882-46G>A (n.5882-46G>A) c.5864-46G>A (n.5864-46G>A) c.5792-46G>A (n.5792-46G>A) c.5819-46G>A (n.5819-46G>A) c.5822-46G>A (n.5822-46G>A) c.5861-46G>A (n.5861-46G>A) c.5831-46G>A (n.5831-46G>A) n.2653-46G>A c.5726-46G>A (n.5726-46G>A) c.5789-46G>A (n.5789-46G>A) c.5729-46G>A (n.5729-46G>A) c.5927-46G>A (n.5927-46G>A) c.5924-46G>A (n.5924-46G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71679011G= | CA1260156799 | DYSF | c.3299-46G= (n.3299-46G=) c.2516-46G= (n.2516-46G=) c.2624-46G= (n.2624-46G=) c.5768-46G= (n.5768-46G=) c.5885-46G= (n.5885-46G=) c.5771-46G= (n.5771-46G=) c.5834-46G= (n.5834-46G=) c.5882-46G= (n.5882-46G=) c.5864-46G= (n.5864-46G=) c.5792-46G= (n.5792-46G=) c.5819-46G= (n.5819-46G=) c.5822-46G= (n.5822-46G=) c.5861-46G= (n.5861-46G=) c.5831-46G= (n.5831-46G=) n.2653-46G= c.5726-46G= (n.5726-46G=) c.5789-46G= (n.5789-46G=) c.5729-46G= (n.5729-46G=) c.5927-46G= (n.5927-46G=) c.5924-46G= (n.5924-46G=) | |
2 | g.71679011G>T | CA1707533 | DYSF | c.3299-46G>T (n.3299-46G>T) c.2516-46G>T (n.2516-46G>T) c.2624-46G>T (n.2624-46G>T) c.5768-46G>T (n.5768-46G>T) c.5885-46G>T (n.5885-46G>T) c.5771-46G>T (n.5771-46G>T) c.5834-46G>T (n.5834-46G>T) c.5882-46G>T (n.5882-46G>T) c.5864-46G>T (n.5864-46G>T) c.5792-46G>T (n.5792-46G>T) c.5819-46G>T (n.5819-46G>T) c.5822-46G>T (n.5822-46G>T) c.5861-46G>T (n.5861-46G>T) c.5831-46G>T (n.5831-46G>T) n.2653-46G>T c.5726-46G>T (n.5726-46G>T) c.5789-46G>T (n.5789-46G>T) c.5729-46G>T (n.5729-46G>T) c.5927-46G>T (n.5927-46G>T) c.5924-46G>T (n.5924-46G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679012C>A | CA2659556014 | DYSF | c.3299-45C>A (n.3299-45C>A) c.2516-45C>A (n.2516-45C>A) c.2624-45C>A (n.2624-45C>A) c.5768-45C>A (n.5768-45C>A) c.5885-45C>A (n.5885-45C>A) c.5771-45C>A (n.5771-45C>A) c.5834-45C>A (n.5834-45C>A) c.5882-45C>A (n.5882-45C>A) c.5864-45C>A (n.5864-45C>A) c.5792-45C>A (n.5792-45C>A) c.5819-45C>A (n.5819-45C>A) c.5822-45C>A (n.5822-45C>A) c.5861-45C>A (n.5861-45C>A) c.5831-45C>A (n.5831-45C>A) n.2653-45C>A c.5726-45C>A (n.5726-45C>A) c.5789-45C>A (n.5789-45C>A) c.5729-45C>A (n.5729-45C>A) c.5927-45C>A (n.5927-45C>A) c.5924-45C>A (n.5924-45C>A) | gnomAD v4 |
2 | g.71679012C>T | CA2659556015 | DYSF | c.3299-45C>T (n.3299-45C>T) c.2516-45C>T (n.2516-45C>T) c.2624-45C>T (n.2624-45C>T) c.5768-45C>T (n.5768-45C>T) c.5885-45C>T (n.5885-45C>T) c.5771-45C>T (n.5771-45C>T) c.5834-45C>T (n.5834-45C>T) c.5882-45C>T (n.5882-45C>T) c.5864-45C>T (n.5864-45C>T) c.5792-45C>T (n.5792-45C>T) c.5819-45C>T (n.5819-45C>T) c.5822-45C>T (n.5822-45C>T) c.5861-45C>T (n.5861-45C>T) c.5831-45C>T (n.5831-45C>T) n.2653-45C>T c.5726-45C>T (n.5726-45C>T) c.5789-45C>T (n.5789-45C>T) c.5729-45C>T (n.5729-45C>T) c.5927-45C>T (n.5927-45C>T) c.5924-45C>T (n.5924-45C>T) | dbSNP gnomAD v4 |
2 | g.71679013A= | CA1260156800 | DYSF | c.3299-44A= (n.3299-44A=) c.2516-44A= (n.2516-44A=) c.2624-44A= (n.2624-44A=) c.5768-44A= (n.5768-44A=) c.5885-44A= (n.5885-44A=) c.5771-44A= (n.5771-44A=) c.5834-44A= (n.5834-44A=) c.5882-44A= (n.5882-44A=) c.5864-44A= (n.5864-44A=) c.5792-44A= (n.5792-44A=) c.5819-44A= (n.5819-44A=) c.5822-44A= (n.5822-44A=) c.5861-44A= (n.5861-44A=) c.5831-44A= (n.5831-44A=) n.2653-44A= c.5726-44A= (n.5726-44A=) c.5789-44A= (n.5789-44A=) c.5729-44A= (n.5729-44A=) c.5927-44A= (n.5927-44A=) c.5924-44A= (n.5924-44A=) | |
2 | g.71679013A>G | CA533655819 | DYSF | c.3299-44A>G (n.3299-44A>G) c.2516-44A>G (n.2516-44A>G) c.2624-44A>G (n.2624-44A>G) c.5768-44A>G (n.5768-44A>G) c.5885-44A>G (n.5885-44A>G) c.5771-44A>G (n.5771-44A>G) c.5834-44A>G (n.5834-44A>G) c.5882-44A>G (n.5882-44A>G) c.5864-44A>G (n.5864-44A>G) c.5792-44A>G (n.5792-44A>G) c.5819-44A>G (n.5819-44A>G) c.5822-44A>G (n.5822-44A>G) c.5861-44A>G (n.5861-44A>G) c.5831-44A>G (n.5831-44A>G) n.2653-44A>G c.5726-44A>G (n.5726-44A>G) c.5789-44A>G (n.5789-44A>G) c.5729-44A>G (n.5729-44A>G) c.5927-44A>G (n.5927-44A>G) c.5924-44A>G (n.5924-44A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71679014G>A | CA2577000904 | DYSF | c.3299-43G>A (n.3299-43G>A) c.2516-43G>A (n.2516-43G>A) c.2624-43G>A (n.2624-43G>A) c.5768-43G>A (n.5768-43G>A) c.5885-43G>A (n.5885-43G>A) c.5771-43G>A (n.5771-43G>A) c.5834-43G>A (n.5834-43G>A) c.5882-43G>A (n.5882-43G>A) c.5864-43G>A (n.5864-43G>A) c.5792-43G>A (n.5792-43G>A) c.5819-43G>A (n.5819-43G>A) c.5822-43G>A (n.5822-43G>A) c.5861-43G>A (n.5861-43G>A) c.5831-43G>A (n.5831-43G>A) n.2653-43G>A c.5726-43G>A (n.5726-43G>A) c.5789-43G>A (n.5789-43G>A) c.5729-43G>A (n.5729-43G>A) c.5927-43G>A (n.5927-43G>A) c.5924-43G>A (n.5924-43G>A) | |
2 | g.71679015T>G | CA2659556016 | DYSF | c.3299-42T>G (n.3299-42T>G) c.2516-42T>G (n.2516-42T>G) c.2624-42T>G (n.2624-42T>G) c.5768-42T>G (n.5768-42T>G) c.5885-42T>G (n.5885-42T>G) c.5771-42T>G (n.5771-42T>G) c.5834-42T>G (n.5834-42T>G) c.5882-42T>G (n.5882-42T>G) c.5864-42T>G (n.5864-42T>G) c.5792-42T>G (n.5792-42T>G) c.5819-42T>G (n.5819-42T>G) c.5822-42T>G (n.5822-42T>G) c.5861-42T>G (n.5861-42T>G) c.5831-42T>G (n.5831-42T>G) n.2653-42T>G c.5726-42T>G (n.5726-42T>G) c.5789-42T>G (n.5789-42T>G) c.5729-42T>G (n.5729-42T>G) c.5927-42T>G (n.5927-42T>G) c.5924-42T>G (n.5924-42T>G) | gnomAD v4 |
2 | g.71679016G>A | CA2659556017 | DYSF | c.3299-41G>A (n.3299-41G>A) c.2516-41G>A (n.2516-41G>A) c.2624-41G>A (n.2624-41G>A) c.5768-41G>A (n.5768-41G>A) c.5885-41G>A (n.5885-41G>A) c.5771-41G>A (n.5771-41G>A) c.5834-41G>A (n.5834-41G>A) c.5882-41G>A (n.5882-41G>A) c.5864-41G>A (n.5864-41G>A) c.5792-41G>A (n.5792-41G>A) c.5819-41G>A (n.5819-41G>A) c.5822-41G>A (n.5822-41G>A) c.5861-41G>A (n.5861-41G>A) c.5831-41G>A (n.5831-41G>A) n.2653-41G>A c.5726-41G>A (n.5726-41G>A) c.5789-41G>A (n.5789-41G>A) c.5729-41G>A (n.5729-41G>A) c.5927-41G>A (n.5927-41G>A) c.5924-41G>A (n.5924-41G>A) | gnomAD v4 |
2 | g.71679016G>T | CA2659556018 | DYSF | c.3299-41G>T (n.3299-41G>T) c.2516-41G>T (n.2516-41G>T) c.2624-41G>T (n.2624-41G>T) c.5768-41G>T (n.5768-41G>T) c.5885-41G>T (n.5885-41G>T) c.5771-41G>T (n.5771-41G>T) c.5834-41G>T (n.5834-41G>T) c.5882-41G>T (n.5882-41G>T) c.5864-41G>T (n.5864-41G>T) c.5792-41G>T (n.5792-41G>T) c.5819-41G>T (n.5819-41G>T) c.5822-41G>T (n.5822-41G>T) c.5861-41G>T (n.5861-41G>T) c.5831-41G>T (n.5831-41G>T) n.2653-41G>T c.5726-41G>T (n.5726-41G>T) c.5789-41G>T (n.5789-41G>T) c.5729-41G>T (n.5729-41G>T) c.5927-41G>T (n.5927-41G>T) c.5924-41G>T (n.5924-41G>T) | gnomAD v4 |
2 | g.71679019C>A | CA533655820 | DYSF | c.3299-38C>A (n.3299-38C>A) c.2516-38C>A (n.2516-38C>A) c.2624-38C>A (n.2624-38C>A) c.5768-38C>A (n.5768-38C>A) c.5885-38C>A (n.5885-38C>A) c.5771-38C>A (n.5771-38C>A) c.5834-38C>A (n.5834-38C>A) c.5882-38C>A (n.5882-38C>A) c.5864-38C>A (n.5864-38C>A) c.5792-38C>A (n.5792-38C>A) c.5819-38C>A (n.5819-38C>A) c.5822-38C>A (n.5822-38C>A) c.5861-38C>A (n.5861-38C>A) c.5831-38C>A (n.5831-38C>A) n.2653-38C>A c.5726-38C>A (n.5726-38C>A) c.5789-38C>A (n.5789-38C>A) c.5729-38C>A (n.5729-38C>A) c.5927-38C>A (n.5927-38C>A) c.5924-38C>A (n.5924-38C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71679019C= | CA1260156801 | DYSF | c.3299-38C= (n.3299-38C=) c.2516-38C= (n.2516-38C=) c.2624-38C= (n.2624-38C=) c.5768-38C= (n.5768-38C=) c.5885-38C= (n.5885-38C=) c.5771-38C= (n.5771-38C=) c.5834-38C= (n.5834-38C=) c.5882-38C= (n.5882-38C=) c.5864-38C= (n.5864-38C=) c.5792-38C= (n.5792-38C=) c.5819-38C= (n.5819-38C=) c.5822-38C= (n.5822-38C=) c.5861-38C= (n.5861-38C=) c.5831-38C= (n.5831-38C=) n.2653-38C= c.5726-38C= (n.5726-38C=) c.5789-38C= (n.5789-38C=) c.5729-38C= (n.5729-38C=) c.5927-38C= (n.5927-38C=) c.5924-38C= (n.5924-38C=) | |
2 | g.71679019C>G | CA2600268705 | DYSF | c.3299-38C>G (n.3299-38C>G) c.2516-38C>G (n.2516-38C>G) c.2624-38C>G (n.2624-38C>G) c.5768-38C>G (n.5768-38C>G) c.5885-38C>G (n.5885-38C>G) c.5771-38C>G (n.5771-38C>G) c.5834-38C>G (n.5834-38C>G) c.5882-38C>G (n.5882-38C>G) c.5864-38C>G (n.5864-38C>G) c.5792-38C>G (n.5792-38C>G) c.5819-38C>G (n.5819-38C>G) c.5822-38C>G (n.5822-38C>G) c.5861-38C>G (n.5861-38C>G) c.5831-38C>G (n.5831-38C>G) n.2653-38C>G c.5726-38C>G (n.5726-38C>G) c.5789-38C>G (n.5789-38C>G) c.5729-38C>G (n.5729-38C>G) c.5927-38C>G (n.5927-38C>G) c.5924-38C>G (n.5924-38C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71679019C>T | CA1707534 | DYSF | c.3299-38C>T (n.3299-38C>T) c.2516-38C>T (n.2516-38C>T) c.2624-38C>T (n.2624-38C>T) c.5768-38C>T (n.5768-38C>T) c.5885-38C>T (n.5885-38C>T) c.5771-38C>T (n.5771-38C>T) c.5834-38C>T (n.5834-38C>T) c.5882-38C>T (n.5882-38C>T) c.5864-38C>T (n.5864-38C>T) c.5792-38C>T (n.5792-38C>T) c.5819-38C>T (n.5819-38C>T) c.5822-38C>T (n.5822-38C>T) c.5861-38C>T (n.5861-38C>T) c.5831-38C>T (n.5831-38C>T) n.2653-38C>T c.5726-38C>T (n.5726-38C>T) c.5789-38C>T (n.5789-38C>T) c.5729-38C>T (n.5729-38C>T) c.5927-38C>T (n.5927-38C>T) c.5924-38C>T (n.5924-38C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679020G>A | CA1707536 | DYSF | c.3299-37G>A (n.3299-37G>A) c.2516-37G>A (n.2516-37G>A) c.2624-37G>A (n.2624-37G>A) c.5768-37G>A (n.5768-37G>A) c.5885-37G>A (n.5885-37G>A) c.5771-37G>A (n.5771-37G>A) c.5834-37G>A (n.5834-37G>A) c.5882-37G>A (n.5882-37G>A) c.5864-37G>A (n.5864-37G>A) c.5792-37G>A (n.5792-37G>A) c.5819-37G>A (n.5819-37G>A) c.5822-37G>A (n.5822-37G>A) c.5861-37G>A (n.5861-37G>A) c.5831-37G>A (n.5831-37G>A) n.2653-37G>A c.5726-37G>A (n.5726-37G>A) c.5789-37G>A (n.5789-37G>A) c.5729-37G>A (n.5729-37G>A) c.5927-37G>A (n.5927-37G>A) c.5924-37G>A (n.5924-37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679020G>C | CA1707537 | DYSF | c.3299-37G>C (n.3299-37G>C) c.2516-37G>C (n.2516-37G>C) c.2624-37G>C (n.2624-37G>C) c.5768-37G>C (n.5768-37G>C) c.5885-37G>C (n.5885-37G>C) c.5771-37G>C (n.5771-37G>C) c.5834-37G>C (n.5834-37G>C) c.5882-37G>C (n.5882-37G>C) c.5864-37G>C (n.5864-37G>C) c.5792-37G>C (n.5792-37G>C) c.5819-37G>C (n.5819-37G>C) c.5822-37G>C (n.5822-37G>C) c.5861-37G>C (n.5861-37G>C) c.5831-37G>C (n.5831-37G>C) n.2653-37G>C c.5726-37G>C (n.5726-37G>C) c.5789-37G>C (n.5789-37G>C) c.5729-37G>C (n.5729-37G>C) c.5927-37G>C (n.5927-37G>C) c.5924-37G>C (n.5924-37G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71679020G= | CA1260156802 | DYSF | c.3299-37G= (n.3299-37G=) c.2516-37G= (n.2516-37G=) c.2624-37G= (n.2624-37G=) c.5768-37G= (n.5768-37G=) c.5885-37G= (n.5885-37G=) c.5771-37G= (n.5771-37G=) c.5834-37G= (n.5834-37G=) c.5882-37G= (n.5882-37G=) c.5864-37G= (n.5864-37G=) c.5792-37G= (n.5792-37G=) c.5819-37G= (n.5819-37G=) c.5822-37G= (n.5822-37G=) c.5861-37G= (n.5861-37G=) c.5831-37G= (n.5831-37G=) n.2653-37G= c.5726-37G= (n.5726-37G=) c.5789-37G= (n.5789-37G=) c.5729-37G= (n.5729-37G=) c.5927-37G= (n.5927-37G=) c.5924-37G= (n.5924-37G=) | |
2 | g.71679020G>T | CA1707535 | DYSF | c.3299-37G>T (n.3299-37G>T) c.2516-37G>T (n.2516-37G>T) c.2624-37G>T (n.2624-37G>T) c.5768-37G>T (n.5768-37G>T) c.5885-37G>T (n.5885-37G>T) c.5771-37G>T (n.5771-37G>T) c.5834-37G>T (n.5834-37G>T) c.5882-37G>T (n.5882-37G>T) c.5864-37G>T (n.5864-37G>T) c.5792-37G>T (n.5792-37G>T) c.5819-37G>T (n.5819-37G>T) c.5822-37G>T (n.5822-37G>T) c.5861-37G>T (n.5861-37G>T) c.5831-37G>T (n.5831-37G>T) n.2653-37G>T c.5726-37G>T (n.5726-37G>T) c.5789-37G>T (n.5789-37G>T) c.5729-37G>T (n.5729-37G>T) c.5927-37G>T (n.5927-37G>T) c.5924-37G>T (n.5924-37G>T) | dbSNP ExAC gnomAD v4 |
2 | g.71679021A>G | CA2659556019 | DYSF | c.3299-36A>G (n.3299-36A>G) c.2516-36A>G (n.2516-36A>G) c.2624-36A>G (n.2624-36A>G) c.5768-36A>G (n.5768-36A>G) c.5885-36A>G (n.5885-36A>G) c.5771-36A>G (n.5771-36A>G) c.5834-36A>G (n.5834-36A>G) c.5882-36A>G (n.5882-36A>G) c.5864-36A>G (n.5864-36A>G) c.5792-36A>G (n.5792-36A>G) c.5819-36A>G (n.5819-36A>G) c.5822-36A>G (n.5822-36A>G) c.5861-36A>G (n.5861-36A>G) c.5831-36A>G (n.5831-36A>G) n.2653-36A>G c.5726-36A>G (n.5726-36A>G) c.5789-36A>G (n.5789-36A>G) c.5729-36A>G (n.5729-36A>G) c.5927-36A>G (n.5927-36A>G) c.5924-36A>G (n.5924-36A>G) | gnomAD v4 |
2 | g.71679022G>A | CA2659556020 | DYSF | c.3299-35G>A (n.3299-35G>A) c.2516-35G>A (n.2516-35G>A) c.2624-35G>A (n.2624-35G>A) c.5768-35G>A (n.5768-35G>A) c.5885-35G>A (n.5885-35G>A) c.5771-35G>A (n.5771-35G>A) c.5834-35G>A (n.5834-35G>A) c.5882-35G>A (n.5882-35G>A) c.5864-35G>A (n.5864-35G>A) c.5792-35G>A (n.5792-35G>A) c.5819-35G>A (n.5819-35G>A) c.5822-35G>A (n.5822-35G>A) c.5861-35G>A (n.5861-35G>A) c.5831-35G>A (n.5831-35G>A) n.2653-35G>A c.5726-35G>A (n.5726-35G>A) c.5789-35G>A (n.5789-35G>A) c.5729-35G>A (n.5729-35G>A) c.5927-35G>A (n.5927-35G>A) c.5924-35G>A (n.5924-35G>A) | gnomAD v4 |
2 | g.71679022G>C | CA2659556021 | DYSF | c.3299-35G>C (n.3299-35G>C) c.2516-35G>C (n.2516-35G>C) c.2624-35G>C (n.2624-35G>C) c.5768-35G>C (n.5768-35G>C) c.5885-35G>C (n.5885-35G>C) c.5771-35G>C (n.5771-35G>C) c.5834-35G>C (n.5834-35G>C) c.5882-35G>C (n.5882-35G>C) c.5864-35G>C (n.5864-35G>C) c.5792-35G>C (n.5792-35G>C) c.5819-35G>C (n.5819-35G>C) c.5822-35G>C (n.5822-35G>C) c.5861-35G>C (n.5861-35G>C) c.5831-35G>C (n.5831-35G>C) n.2653-35G>C c.5726-35G>C (n.5726-35G>C) c.5789-35G>C (n.5789-35G>C) c.5729-35G>C (n.5729-35G>C) c.5927-35G>C (n.5927-35G>C) c.5924-35G>C (n.5924-35G>C) | gnomAD v4 |
2 | g.71679024A>C | CA2659556022 | DYSF | c.3299-33A>C (n.3299-33A>C) c.2516-33A>C (n.2516-33A>C) c.2624-33A>C (n.2624-33A>C) c.5768-33A>C (n.5768-33A>C) c.5885-33A>C (n.5885-33A>C) c.5771-33A>C (n.5771-33A>C) c.5834-33A>C (n.5834-33A>C) c.5882-33A>C (n.5882-33A>C) c.5864-33A>C (n.5864-33A>C) c.5792-33A>C (n.5792-33A>C) c.5819-33A>C (n.5819-33A>C) c.5822-33A>C (n.5822-33A>C) c.5861-33A>C (n.5861-33A>C) c.5831-33A>C (n.5831-33A>C) n.2653-33A>C c.5726-33A>C (n.5726-33A>C) c.5789-33A>C (n.5789-33A>C) c.5729-33A>C (n.5729-33A>C) c.5927-33A>C (n.5927-33A>C) c.5924-33A>C (n.5924-33A>C) | gnomAD v4 |
2 | g.71679025A= | CA1260156804 | DYSF | c.3299-32A= (n.3299-32A=) c.2516-32A= (n.2516-32A=) c.2624-32A= (n.2624-32A=) c.5768-32A= (n.5768-32A=) c.5885-32A= (n.5885-32A=) c.5771-32A= (n.5771-32A=) c.5834-32A= (n.5834-32A=) c.5882-32A= (n.5882-32A=) c.5864-32A= (n.5864-32A=) c.5792-32A= (n.5792-32A=) c.5819-32A= (n.5819-32A=) c.5822-32A= (n.5822-32A=) c.5861-32A= (n.5861-32A=) c.5831-32A= (n.5831-32A=) n.2653-32A= c.5726-32A= (n.5726-32A=) c.5789-32A= (n.5789-32A=) c.5729-32A= (n.5729-32A=) c.5927-32A= (n.5927-32A=) c.5924-32A= (n.5924-32A=) | |
2 | g.71679025A>C | CA1260156803 | DYSF | c.3299-32A>C (n.3299-32A>C) c.2516-32A>C (n.2516-32A>C) c.2624-32A>C (n.2624-32A>C) c.5768-32A>C (n.5768-32A>C) c.5885-32A>C (n.5885-32A>C) c.5771-32A>C (n.5771-32A>C) c.5834-32A>C (n.5834-32A>C) c.5882-32A>C (n.5882-32A>C) c.5864-32A>C (n.5864-32A>C) c.5792-32A>C (n.5792-32A>C) c.5819-32A>C (n.5819-32A>C) c.5822-32A>C (n.5822-32A>C) c.5861-32A>C (n.5861-32A>C) c.5831-32A>C (n.5831-32A>C) n.2653-32A>C c.5726-32A>C (n.5726-32A>C) c.5789-32A>C (n.5789-32A>C) c.5729-32A>C (n.5729-32A>C) c.5927-32A>C (n.5927-32A>C) c.5924-32A>C (n.5924-32A>C) | dbSNP |
2 | g.71679025A>G | CA49774251 | DYSF | c.3299-32A>G (n.3299-32A>G) c.2516-32A>G (n.2516-32A>G) c.2624-32A>G (n.2624-32A>G) c.5768-32A>G (n.5768-32A>G) c.5885-32A>G (n.5885-32A>G) c.5771-32A>G (n.5771-32A>G) c.5834-32A>G (n.5834-32A>G) c.5882-32A>G (n.5882-32A>G) c.5864-32A>G (n.5864-32A>G) c.5792-32A>G (n.5792-32A>G) c.5819-32A>G (n.5819-32A>G) c.5822-32A>G (n.5822-32A>G) c.5861-32A>G (n.5861-32A>G) c.5831-32A>G (n.5831-32A>G) n.2653-32A>G c.5726-32A>G (n.5726-32A>G) c.5789-32A>G (n.5789-32A>G) c.5729-32A>G (n.5729-32A>G) c.5927-32A>G (n.5927-32A>G) c.5924-32A>G (n.5924-32A>G) | ClinVar dbSNP |
2 | g.71679026C>A | CA1260156806 | DYSF | c.3299-31C>A (n.3299-31C>A) c.2516-31C>A (n.2516-31C>A) c.2624-31C>A (n.2624-31C>A) c.5768-31C>A (n.5768-31C>A) c.5885-31C>A (n.5885-31C>A) c.5771-31C>A (n.5771-31C>A) c.5834-31C>A (n.5834-31C>A) c.5882-31C>A (n.5882-31C>A) c.5864-31C>A (n.5864-31C>A) c.5792-31C>A (n.5792-31C>A) c.5819-31C>A (n.5819-31C>A) c.5822-31C>A (n.5822-31C>A) c.5861-31C>A (n.5861-31C>A) c.5831-31C>A (n.5831-31C>A) n.2653-31C>A c.5726-31C>A (n.5726-31C>A) c.5789-31C>A (n.5789-31C>A) c.5729-31C>A (n.5729-31C>A) c.5927-31C>A (n.5927-31C>A) c.5924-31C>A (n.5924-31C>A) | dbSNP |
2 | g.71679026C= | CA1260156805 | DYSF | c.3299-31C= (n.3299-31C=) c.2516-31C= (n.2516-31C=) c.2624-31C= (n.2624-31C=) c.5768-31C= (n.5768-31C=) c.5885-31C= (n.5885-31C=) c.5771-31C= (n.5771-31C=) c.5834-31C= (n.5834-31C=) c.5882-31C= (n.5882-31C=) c.5864-31C= (n.5864-31C=) c.5792-31C= (n.5792-31C=) c.5819-31C= (n.5819-31C=) c.5822-31C= (n.5822-31C=) c.5861-31C= (n.5861-31C=) c.5831-31C= (n.5831-31C=) n.2653-31C= c.5726-31C= (n.5726-31C=) c.5789-31C= (n.5789-31C=) c.5729-31C= (n.5729-31C=) c.5927-31C= (n.5927-31C=) c.5924-31C= (n.5924-31C=) | |
2 | g.71679026C>T | CA533655821 | DYSF | c.3299-31C>T (n.3299-31C>T) c.2516-31C>T (n.2516-31C>T) c.2624-31C>T (n.2624-31C>T) c.5768-31C>T (n.5768-31C>T) c.5885-31C>T (n.5885-31C>T) c.5771-31C>T (n.5771-31C>T) c.5834-31C>T (n.5834-31C>T) c.5882-31C>T (n.5882-31C>T) c.5864-31C>T (n.5864-31C>T) c.5792-31C>T (n.5792-31C>T) c.5819-31C>T (n.5819-31C>T) c.5822-31C>T (n.5822-31C>T) c.5861-31C>T (n.5861-31C>T) c.5831-31C>T (n.5831-31C>T) n.2653-31C>T c.5726-31C>T (n.5726-31C>T) c.5789-31C>T (n.5789-31C>T) c.5729-31C>T (n.5729-31C>T) c.5927-31C>T (n.5927-31C>T) c.5924-31C>T (n.5924-31C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71679027C>A | CA1707538 | DYSF | c.3299-30C>A (n.3299-30C>A) c.2516-30C>A (n.2516-30C>A) c.2624-30C>A (n.2624-30C>A) c.5768-30C>A (n.5768-30C>A) c.5885-30C>A (n.5885-30C>A) c.5771-30C>A (n.5771-30C>A) c.5834-30C>A (n.5834-30C>A) c.5882-30C>A (n.5882-30C>A) c.5864-30C>A (n.5864-30C>A) c.5792-30C>A (n.5792-30C>A) c.5819-30C>A (n.5819-30C>A) c.5822-30C>A (n.5822-30C>A) c.5861-30C>A (n.5861-30C>A) c.5831-30C>A (n.5831-30C>A) n.2653-30C>A c.5726-30C>A (n.5726-30C>A) c.5789-30C>A (n.5789-30C>A) c.5729-30C>A (n.5729-30C>A) c.5927-30C>A (n.5927-30C>A) c.5924-30C>A (n.5924-30C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679027C= | CA1260156807 | DYSF | c.3299-30C= (n.3299-30C=) c.2516-30C= (n.2516-30C=) c.2624-30C= (n.2624-30C=) c.5768-30C= (n.5768-30C=) c.5885-30C= (n.5885-30C=) c.5771-30C= (n.5771-30C=) c.5834-30C= (n.5834-30C=) c.5882-30C= (n.5882-30C=) c.5864-30C= (n.5864-30C=) c.5792-30C= (n.5792-30C=) c.5819-30C= (n.5819-30C=) c.5822-30C= (n.5822-30C=) c.5861-30C= (n.5861-30C=) c.5831-30C= (n.5831-30C=) n.2653-30C= c.5726-30C= (n.5726-30C=) c.5789-30C= (n.5789-30C=) c.5729-30C= (n.5729-30C=) c.5927-30C= (n.5927-30C=) c.5924-30C= (n.5924-30C=) | |
2 | g.71679028C>A | CA2659556023 | DYSF | c.3299-29C>A (n.3299-29C>A) c.2516-29C>A (n.2516-29C>A) c.2624-29C>A (n.2624-29C>A) c.5768-29C>A (n.5768-29C>A) c.5885-29C>A (n.5885-29C>A) c.5771-29C>A (n.5771-29C>A) c.5834-29C>A (n.5834-29C>A) c.5882-29C>A (n.5882-29C>A) c.5864-29C>A (n.5864-29C>A) c.5792-29C>A (n.5792-29C>A) c.5819-29C>A (n.5819-29C>A) c.5822-29C>A (n.5822-29C>A) c.5861-29C>A (n.5861-29C>A) c.5831-29C>A (n.5831-29C>A) n.2653-29C>A c.5726-29C>A (n.5726-29C>A) c.5789-29C>A (n.5789-29C>A) c.5729-29C>A (n.5729-29C>A) c.5927-29C>A (n.5927-29C>A) c.5924-29C>A (n.5924-29C>A) | gnomAD v4 |
2 | g.71679028C= | CA1260156808 | DYSF | c.3299-29C= (n.3299-29C=) c.2516-29C= (n.2516-29C=) c.2624-29C= (n.2624-29C=) c.5768-29C= (n.5768-29C=) c.5885-29C= (n.5885-29C=) c.5771-29C= (n.5771-29C=) c.5834-29C= (n.5834-29C=) c.5882-29C= (n.5882-29C=) c.5864-29C= (n.5864-29C=) c.5792-29C= (n.5792-29C=) c.5819-29C= (n.5819-29C=) c.5822-29C= (n.5822-29C=) c.5861-29C= (n.5861-29C=) c.5831-29C= (n.5831-29C=) n.2653-29C= c.5726-29C= (n.5726-29C=) c.5789-29C= (n.5789-29C=) c.5729-29C= (n.5729-29C=) c.5927-29C= (n.5927-29C=) c.5924-29C= (n.5924-29C=) | |
2 | g.71679028C>T | CA533655822 | DYSF | c.3299-29C>T (n.3299-29C>T) c.2516-29C>T (n.2516-29C>T) c.2624-29C>T (n.2624-29C>T) c.5768-29C>T (n.5768-29C>T) c.5885-29C>T (n.5885-29C>T) c.5771-29C>T (n.5771-29C>T) c.5834-29C>T (n.5834-29C>T) c.5882-29C>T (n.5882-29C>T) c.5864-29C>T (n.5864-29C>T) c.5792-29C>T (n.5792-29C>T) c.5819-29C>T (n.5819-29C>T) c.5822-29C>T (n.5822-29C>T) c.5861-29C>T (n.5861-29C>T) c.5831-29C>T (n.5831-29C>T) n.2653-29C>T c.5726-29C>T (n.5726-29C>T) c.5789-29C>T (n.5789-29C>T) c.5729-29C>T (n.5729-29C>T) c.5927-29C>T (n.5927-29C>T) c.5924-29C>T (n.5924-29C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71679030del | CA2577000905 | DYSF | c.3299-27del (n.3299-27del) c.2516-27del (n.2516-27del) c.2624-27del (n.2624-27del) c.5768-27del (n.5768-27del) c.5885-27del (n.5885-27del) c.5771-27del (n.5771-27del) c.5834-27del (n.5834-27del) c.5882-27del (n.5882-27del) c.5864-27del (n.5864-27del) c.5792-27del (n.5792-27del) c.5819-27del (n.5819-27del) c.5822-27del (n.5822-27del) c.5861-27del (n.5861-27del) c.5831-27del (n.5831-27del) n.2653-27del c.5726-27del (n.5726-27del) c.5789-27del (n.5789-27del) c.5729-27del (n.5729-27del) c.5927-27del (n.5927-27del) c.5924-27del (n.5924-27del) | |
2 | g.71679030T>G | CA2659556024 | DYSF | c.3299-27T>G (n.3299-27T>G) c.2516-27T>G (n.2516-27T>G) c.2624-27T>G (n.2624-27T>G) c.5768-27T>G (n.5768-27T>G) c.5885-27T>G (n.5885-27T>G) c.5771-27T>G (n.5771-27T>G) c.5834-27T>G (n.5834-27T>G) c.5882-27T>G (n.5882-27T>G) c.5864-27T>G (n.5864-27T>G) c.5792-27T>G (n.5792-27T>G) c.5819-27T>G (n.5819-27T>G) c.5822-27T>G (n.5822-27T>G) c.5861-27T>G (n.5861-27T>G) c.5831-27T>G (n.5831-27T>G) n.2653-27T>G c.5726-27T>G (n.5726-27T>G) c.5789-27T>G (n.5789-27T>G) c.5729-27T>G (n.5729-27T>G) c.5927-27T>G (n.5927-27T>G) c.5924-27T>G (n.5924-27T>G) | dbSNP gnomAD v4 |
2 | g.71679031G>T | CA2577000906 | DYSF | c.3299-26G>T (n.3299-26G>T) c.2516-26G>T (n.2516-26G>T) c.2624-26G>T (n.2624-26G>T) c.5768-26G>T (n.5768-26G>T) c.5885-26G>T (n.5885-26G>T) c.5771-26G>T (n.5771-26G>T) c.5834-26G>T (n.5834-26G>T) c.5882-26G>T (n.5882-26G>T) c.5864-26G>T (n.5864-26G>T) c.5792-26G>T (n.5792-26G>T) c.5819-26G>T (n.5819-26G>T) c.5822-26G>T (n.5822-26G>T) c.5861-26G>T (n.5861-26G>T) c.5831-26G>T (n.5831-26G>T) n.2653-26G>T c.5726-26G>T (n.5726-26G>T) c.5789-26G>T (n.5789-26G>T) c.5729-26G>T (n.5729-26G>T) c.5927-26G>T (n.5927-26G>T) c.5924-26G>T (n.5924-26G>T) | |
2 | g.71679032G>A | CA2659556025 | DYSF | c.3299-25G>A (n.3299-25G>A) c.2516-25G>A (n.2516-25G>A) c.2624-25G>A (n.2624-25G>A) c.5768-25G>A (n.5768-25G>A) c.5885-25G>A (n.5885-25G>A) c.5771-25G>A (n.5771-25G>A) c.5834-25G>A (n.5834-25G>A) c.5882-25G>A (n.5882-25G>A) c.5864-25G>A (n.5864-25G>A) c.5792-25G>A (n.5792-25G>A) c.5819-25G>A (n.5819-25G>A) c.5822-25G>A (n.5822-25G>A) c.5861-25G>A (n.5861-25G>A) c.5831-25G>A (n.5831-25G>A) n.2653-25G>A c.5726-25G>A (n.5726-25G>A) c.5789-25G>A (n.5789-25G>A) c.5729-25G>A (n.5729-25G>A) c.5927-25G>A (n.5927-25G>A) c.5924-25G>A (n.5924-25G>A) | gnomAD v4 |
2 | g.71679032G= | CA1260156809 | DYSF | c.3299-25G= (n.3299-25G=) c.2516-25G= (n.2516-25G=) c.2624-25G= (n.2624-25G=) c.5768-25G= (n.5768-25G=) c.5885-25G= (n.5885-25G=) c.5771-25G= (n.5771-25G=) c.5834-25G= (n.5834-25G=) c.5882-25G= (n.5882-25G=) c.5864-25G= (n.5864-25G=) c.5792-25G= (n.5792-25G=) c.5819-25G= (n.5819-25G=) c.5822-25G= (n.5822-25G=) c.5861-25G= (n.5861-25G=) c.5831-25G= (n.5831-25G=) n.2653-25G= c.5726-25G= (n.5726-25G=) c.5789-25G= (n.5789-25G=) c.5729-25G= (n.5729-25G=) c.5927-25G= (n.5927-25G=) c.5924-25G= (n.5924-25G=) | |
2 | g.71679032G>T | CA533655823 | DYSF | c.3299-25G>T (n.3299-25G>T) c.2516-25G>T (n.2516-25G>T) c.2624-25G>T (n.2624-25G>T) c.5768-25G>T (n.5768-25G>T) c.5885-25G>T (n.5885-25G>T) c.5771-25G>T (n.5771-25G>T) c.5834-25G>T (n.5834-25G>T) c.5882-25G>T (n.5882-25G>T) c.5864-25G>T (n.5864-25G>T) c.5792-25G>T (n.5792-25G>T) c.5819-25G>T (n.5819-25G>T) c.5822-25G>T (n.5822-25G>T) c.5861-25G>T (n.5861-25G>T) c.5831-25G>T (n.5831-25G>T) n.2653-25G>T c.5726-25G>T (n.5726-25G>T) c.5789-25G>T (n.5789-25G>T) c.5729-25G>T (n.5729-25G>T) c.5927-25G>T (n.5927-25G>T) c.5924-25G>T (n.5924-25G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71679033C>A | CA2659556026 | DYSF | c.3299-24C>A (n.3299-24C>A) c.2516-24C>A (n.2516-24C>A) c.2624-24C>A (n.2624-24C>A) c.5768-24C>A (n.5768-24C>A) c.5885-24C>A (n.5885-24C>A) c.5771-24C>A (n.5771-24C>A) c.5834-24C>A (n.5834-24C>A) c.5882-24C>A (n.5882-24C>A) c.5864-24C>A (n.5864-24C>A) c.5792-24C>A (n.5792-24C>A) c.5819-24C>A (n.5819-24C>A) c.5822-24C>A (n.5822-24C>A) c.5861-24C>A (n.5861-24C>A) c.5831-24C>A (n.5831-24C>A) n.2653-24C>A c.5726-24C>A (n.5726-24C>A) c.5789-24C>A (n.5789-24C>A) c.5729-24C>A (n.5729-24C>A) c.5927-24C>A (n.5927-24C>A) c.5924-24C>A (n.5924-24C>A) | gnomAD v4 |
2 | g.71679034C= | CA1260156810 | DYSF | c.3299-23C= (n.3299-23C=) c.2516-23C= (n.2516-23C=) c.2624-23C= (n.2624-23C=) c.5768-23C= (n.5768-23C=) c.5885-23C= (n.5885-23C=) c.5771-23C= (n.5771-23C=) c.5834-23C= (n.5834-23C=) c.5882-23C= (n.5882-23C=) c.5864-23C= (n.5864-23C=) c.5792-23C= (n.5792-23C=) c.5819-23C= (n.5819-23C=) c.5822-23C= (n.5822-23C=) c.5861-23C= (n.5861-23C=) c.5831-23C= (n.5831-23C=) n.2653-23C= c.5726-23C= (n.5726-23C=) c.5789-23C= (n.5789-23C=) c.5729-23C= (n.5729-23C=) c.5927-23C= (n.5927-23C=) c.5924-23C= (n.5924-23C=) | |
2 | g.71679034C>T | CA49774270 | DYSF | c.3299-23C>T (n.3299-23C>T) c.2516-23C>T (n.2516-23C>T) c.2624-23C>T (n.2624-23C>T) c.5768-23C>T (n.5768-23C>T) c.5885-23C>T (n.5885-23C>T) c.5771-23C>T (n.5771-23C>T) c.5834-23C>T (n.5834-23C>T) c.5882-23C>T (n.5882-23C>T) c.5864-23C>T (n.5864-23C>T) c.5792-23C>T (n.5792-23C>T) c.5819-23C>T (n.5819-23C>T) c.5822-23C>T (n.5822-23C>T) c.5861-23C>T (n.5861-23C>T) c.5831-23C>T (n.5831-23C>T) n.2653-23C>T c.5726-23C>T (n.5726-23C>T) c.5789-23C>T (n.5789-23C>T) c.5729-23C>T (n.5729-23C>T) c.5927-23C>T (n.5927-23C>T) c.5924-23C>T (n.5924-23C>T) | dbSNP |
2 | g.71679035A>G | CA2659556028 | DYSF | c.3299-22A>G (n.3299-22A>G) c.2516-22A>G (n.2516-22A>G) c.2624-22A>G (n.2624-22A>G) c.5768-22A>G (n.5768-22A>G) c.5885-22A>G (n.5885-22A>G) c.5771-22A>G (n.5771-22A>G) c.5834-22A>G (n.5834-22A>G) c.5882-22A>G (n.5882-22A>G) c.5864-22A>G (n.5864-22A>G) c.5792-22A>G (n.5792-22A>G) c.5819-22A>G (n.5819-22A>G) c.5822-22A>G (n.5822-22A>G) c.5861-22A>G (n.5861-22A>G) c.5831-22A>G (n.5831-22A>G) n.2653-22A>G c.5726-22A>G (n.5726-22A>G) c.5789-22A>G (n.5789-22A>G) c.5729-22A>G (n.5729-22A>G) c.5927-22A>G (n.5927-22A>G) c.5924-22A>G (n.5924-22A>G) | gnomAD v4 |
2 | g.71679035A>T | CA2659556029 | DYSF | c.3299-22A>T (n.3299-22A>T) c.2516-22A>T (n.2516-22A>T) c.2624-22A>T (n.2624-22A>T) c.5768-22A>T (n.5768-22A>T) c.5885-22A>T (n.5885-22A>T) c.5771-22A>T (n.5771-22A>T) c.5834-22A>T (n.5834-22A>T) c.5882-22A>T (n.5882-22A>T) c.5864-22A>T (n.5864-22A>T) c.5792-22A>T (n.5792-22A>T) c.5819-22A>T (n.5819-22A>T) c.5822-22A>T (n.5822-22A>T) c.5861-22A>T (n.5861-22A>T) c.5831-22A>T (n.5831-22A>T) n.2653-22A>T c.5726-22A>T (n.5726-22A>T) c.5789-22A>T (n.5789-22A>T) c.5729-22A>T (n.5729-22A>T) c.5927-22A>T (n.5927-22A>T) c.5924-22A>T (n.5924-22A>T) | gnomAD v4 |
2 | g.71679039del | CA2659556027 | DYSF | c.3299-18del (n.3299-18del) c.2516-18del (n.2516-18del) c.2624-18del (n.2624-18del) c.5768-18del (n.5768-18del) c.5885-18del (n.5885-18del) c.5771-18del (n.5771-18del) c.5834-18del (n.5834-18del) c.5882-18del (n.5882-18del) c.5864-18del (n.5864-18del) c.5792-18del (n.5792-18del) c.5819-18del (n.5819-18del) c.5822-18del (n.5822-18del) c.5861-18del (n.5861-18del) c.5831-18del (n.5831-18del) n.2653-18del c.5726-18del (n.5726-18del) c.5789-18del (n.5789-18del) c.5729-18del (n.5729-18del) c.5927-18del (n.5927-18del) c.5924-18del (n.5924-18del) | gnomAD v4 |
2 | g.71679036A>G | CA2577000907 | DYSF | c.3299-21A>G (n.3299-21A>G) c.2516-21A>G (n.2516-21A>G) c.2624-21A>G (n.2624-21A>G) c.5768-21A>G (n.5768-21A>G) c.5885-21A>G (n.5885-21A>G) c.5771-21A>G (n.5771-21A>G) c.5834-21A>G (n.5834-21A>G) c.5882-21A>G (n.5882-21A>G) c.5864-21A>G (n.5864-21A>G) c.5792-21A>G (n.5792-21A>G) c.5819-21A>G (n.5819-21A>G) c.5822-21A>G (n.5822-21A>G) c.5861-21A>G (n.5861-21A>G) c.5831-21A>G (n.5831-21A>G) n.2653-21A>G c.5726-21A>G (n.5726-21A>G) c.5789-21A>G (n.5789-21A>G) c.5729-21A>G (n.5729-21A>G) c.5927-21A>G (n.5927-21A>G) c.5924-21A>G (n.5924-21A>G) | gnomAD v4 |
2 | g.71679037A= | CA1260156811 | DYSF | c.3299-20A= (n.3299-20A=) c.2516-20A= (n.2516-20A=) c.2624-20A= (n.2624-20A=) c.5768-20A= (n.5768-20A=) c.5885-20A= (n.5885-20A=) c.5771-20A= (n.5771-20A=) c.5834-20A= (n.5834-20A=) c.5882-20A= (n.5882-20A=) c.5864-20A= (n.5864-20A=) c.5792-20A= (n.5792-20A=) c.5819-20A= (n.5819-20A=) c.5822-20A= (n.5822-20A=) c.5861-20A= (n.5861-20A=) c.5831-20A= (n.5831-20A=) n.2653-20A= c.5726-20A= (n.5726-20A=) c.5789-20A= (n.5789-20A=) c.5729-20A= (n.5729-20A=) c.5927-20A= (n.5927-20A=) c.5924-20A= (n.5924-20A=) | |
2 | g.71679037A>G | CA49774275 | DYSF | c.3299-20A>G (n.3299-20A>G) c.2516-20A>G (n.2516-20A>G) c.2624-20A>G (n.2624-20A>G) c.5768-20A>G (n.5768-20A>G) c.5885-20A>G (n.5885-20A>G) c.5771-20A>G (n.5771-20A>G) c.5834-20A>G (n.5834-20A>G) c.5882-20A>G (n.5882-20A>G) c.5864-20A>G (n.5864-20A>G) c.5792-20A>G (n.5792-20A>G) c.5819-20A>G (n.5819-20A>G) c.5822-20A>G (n.5822-20A>G) c.5861-20A>G (n.5861-20A>G) c.5831-20A>G (n.5831-20A>G) n.2653-20A>G c.5726-20A>G (n.5726-20A>G) c.5789-20A>G (n.5789-20A>G) c.5729-20A>G (n.5729-20A>G) c.5927-20A>G (n.5927-20A>G) c.5924-20A>G (n.5924-20A>G) | dbSNP gnomAD v4 |
2 | g.71679040C>A | CA2750418433 | DYSF | c.3299-17C>A (n.3299-17C>A) c.2516-17C>A (n.2516-17C>A) c.2624-17C>A (n.2624-17C>A) c.5768-17C>A (n.5768-17C>A) c.5885-17C>A (n.5885-17C>A) c.5771-17C>A (n.5771-17C>A) c.5834-17C>A (n.5834-17C>A) c.5882-17C>A (n.5882-17C>A) c.5864-17C>A (n.5864-17C>A) c.5792-17C>A (n.5792-17C>A) c.5819-17C>A (n.5819-17C>A) c.5822-17C>A (n.5822-17C>A) c.5861-17C>A (n.5861-17C>A) c.5831-17C>A (n.5831-17C>A) n.2653-17C>A c.5726-17C>A (n.5726-17C>A) c.5789-17C>A (n.5789-17C>A) c.5729-17C>A (n.5729-17C>A) c.5927-17C>A (n.5927-17C>A) c.5924-17C>A (n.5924-17C>A) | |
2 | g.71679040C= | CA1260156812 | DYSF | c.3299-17C= (n.3299-17C=) c.2516-17C= (n.2516-17C=) c.2624-17C= (n.2624-17C=) c.5768-17C= (n.5768-17C=) c.5885-17C= (n.5885-17C=) c.5771-17C= (n.5771-17C=) c.5834-17C= (n.5834-17C=) c.5882-17C= (n.5882-17C=) c.5864-17C= (n.5864-17C=) c.5792-17C= (n.5792-17C=) c.5819-17C= (n.5819-17C=) c.5822-17C= (n.5822-17C=) c.5861-17C= (n.5861-17C=) c.5831-17C= (n.5831-17C=) n.2653-17C= c.5726-17C= (n.5726-17C=) c.5789-17C= (n.5789-17C=) c.5729-17C= (n.5729-17C=) c.5927-17C= (n.5927-17C=) c.5924-17C= (n.5924-17C=) | |
2 | g.71679040C>G | CA1707539 | DYSF | c.3299-17C>G (n.3299-17C>G) c.2516-17C>G (n.2516-17C>G) c.2624-17C>G (n.2624-17C>G) c.5768-17C>G (n.5768-17C>G) c.5885-17C>G (n.5885-17C>G) c.5771-17C>G (n.5771-17C>G) c.5834-17C>G (n.5834-17C>G) c.5882-17C>G (n.5882-17C>G) c.5864-17C>G (n.5864-17C>G) c.5792-17C>G (n.5792-17C>G) c.5819-17C>G (n.5819-17C>G) c.5822-17C>G (n.5822-17C>G) c.5861-17C>G (n.5861-17C>G) c.5831-17C>G (n.5831-17C>G) n.2653-17C>G c.5726-17C>G (n.5726-17C>G) c.5789-17C>G (n.5789-17C>G) c.5729-17C>G (n.5729-17C>G) c.5927-17C>G (n.5927-17C>G) c.5924-17C>G (n.5924-17C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71679040C>T | CA2577000908 | DYSF | c.3299-17C>T (n.3299-17C>T) c.2516-17C>T (n.2516-17C>T) c.2624-17C>T (n.2624-17C>T) c.5768-17C>T (n.5768-17C>T) c.5885-17C>T (n.5885-17C>T) c.5771-17C>T (n.5771-17C>T) c.5834-17C>T (n.5834-17C>T) c.5882-17C>T (n.5882-17C>T) c.5864-17C>T (n.5864-17C>T) c.5792-17C>T (n.5792-17C>T) c.5819-17C>T (n.5819-17C>T) c.5822-17C>T (n.5822-17C>T) c.5861-17C>T (n.5861-17C>T) c.5831-17C>T (n.5831-17C>T) n.2653-17C>T c.5726-17C>T (n.5726-17C>T) c.5789-17C>T (n.5789-17C>T) c.5729-17C>T (n.5729-17C>T) c.5927-17C>T (n.5927-17C>T) c.5924-17C>T (n.5924-17C>T) | gnomAD v4 |
2 | g.71679040_71679041delinsGC | CA2740095635 | DYSF | c.3299-17_3299-16delinsGC (n.3299-17_3299-16delinsGC) c.2516-17_2516-16delinsGC (n.2516-17_2516-16delinsGC) c.2624-17_2624-16delinsGC (n.2624-17_2624-16delinsGC) c.5768-17_5768-16delinsGC (n.5768-17_5768-16delinsGC) c.5885-17_5885-16delinsGC (n.5885-17_5885-16delinsGC) c.5771-17_5771-16delinsGC (n.5771-17_5771-16delinsGC) c.5834-17_5834-16delinsGC (n.5834-17_5834-16delinsGC) c.5882-17_5882-16delinsGC (n.5882-17_5882-16delinsGC) c.5864-17_5864-16delinsGC (n.5864-17_5864-16delinsGC) c.5792-17_5792-16delinsGC (n.5792-17_5792-16delinsGC) c.5819-17_5819-16delinsGC (n.5819-17_5819-16delinsGC) c.5822-17_5822-16delinsGC (n.5822-17_5822-16delinsGC) c.5861-17_5861-16delinsGC (n.5861-17_5861-16delinsGC) c.5831-17_5831-16delinsGC (n.5831-17_5831-16delinsGC) n.2653-17_2653-16delinsGC c.5726-17_5726-16delinsGC (n.5726-17_5726-16delinsGC) c.5789-17_5789-16delinsGC (n.5789-17_5789-16delinsGC) c.5729-17_5729-16delinsGC (n.5729-17_5729-16delinsGC) c.5927-17_5927-16delinsGC (n.5927-17_5927-16delinsGC) c.5924-17_5924-16delinsGC (n.5924-17_5924-16delinsGC) | ClinVar |
2 | g.71679041T>A | CA1260156815 | DYSF | c.3299-16T>A (n.3299-16T>A) c.2516-16T>A (n.2516-16T>A) c.2624-16T>A (n.2624-16T>A) c.5768-16T>A (n.5768-16T>A) c.5885-16T>A (n.5885-16T>A) c.5771-16T>A (n.5771-16T>A) c.5834-16T>A (n.5834-16T>A) c.5882-16T>A (n.5882-16T>A) c.5864-16T>A (n.5864-16T>A) c.5792-16T>A (n.5792-16T>A) c.5819-16T>A (n.5819-16T>A) c.5822-16T>A (n.5822-16T>A) c.5861-16T>A (n.5861-16T>A) c.5831-16T>A (n.5831-16T>A) n.2653-16T>A c.5726-16T>A (n.5726-16T>A) c.5789-16T>A (n.5789-16T>A) c.5729-16T>A (n.5729-16T>A) c.5927-16T>A (n.5927-16T>A) c.5924-16T>A (n.5924-16T>A) | dbSNP gnomAD v4 |
2 | g.71679041T>C | CA147771 | DYSF | c.3299-16T>C (n.3299-16T>C) c.2516-16T>C (n.2516-16T>C) c.2624-16T>C (n.2624-16T>C) c.5768-16T>C (n.5768-16T>C) c.5885-16T>C (n.5885-16T>C) c.5771-16T>C (n.5771-16T>C) c.5834-16T>C (n.5834-16T>C) c.5882-16T>C (n.5882-16T>C) c.5864-16T>C (n.5864-16T>C) c.5792-16T>C (n.5792-16T>C) c.5819-16T>C (n.5819-16T>C) c.5822-16T>C (n.5822-16T>C) c.5861-16T>C (n.5861-16T>C) c.5831-16T>C (n.5831-16T>C) n.2653-16T>C c.5726-16T>C (n.5726-16T>C) c.5789-16T>C (n.5789-16T>C) c.5729-16T>C (n.5729-16T>C) c.5927-16T>C (n.5927-16T>C) c.5924-16T>C (n.5924-16T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679041T>G | CA1260156813 | DYSF | c.3299-16T>G (n.3299-16T>G) c.2516-16T>G (n.2516-16T>G) c.2624-16T>G (n.2624-16T>G) c.5768-16T>G (n.5768-16T>G) c.5885-16T>G (n.5885-16T>G) c.5771-16T>G (n.5771-16T>G) c.5834-16T>G (n.5834-16T>G) c.5882-16T>G (n.5882-16T>G) c.5864-16T>G (n.5864-16T>G) c.5792-16T>G (n.5792-16T>G) c.5819-16T>G (n.5819-16T>G) c.5822-16T>G (n.5822-16T>G) c.5861-16T>G (n.5861-16T>G) c.5831-16T>G (n.5831-16T>G) n.2653-16T>G c.5726-16T>G (n.5726-16T>G) c.5789-16T>G (n.5789-16T>G) c.5729-16T>G (n.5729-16T>G) c.5927-16T>G (n.5927-16T>G) c.5924-16T>G (n.5924-16T>G) | dbSNP |
2 | g.71679041T= | CA1260156814 | DYSF | c.3299-16T= (n.3299-16T=) c.2516-16T= (n.2516-16T=) c.2624-16T= (n.2624-16T=) c.5768-16T= (n.5768-16T=) c.5885-16T= (n.5885-16T=) c.5771-16T= (n.5771-16T=) c.5834-16T= (n.5834-16T=) c.5882-16T= (n.5882-16T=) c.5864-16T= (n.5864-16T=) c.5792-16T= (n.5792-16T=) c.5819-16T= (n.5819-16T=) c.5822-16T= (n.5822-16T=) c.5861-16T= (n.5861-16T=) c.5831-16T= (n.5831-16T=) n.2653-16T= c.5726-16T= (n.5726-16T=) c.5789-16T= (n.5789-16T=) c.5729-16T= (n.5729-16T=) c.5927-16T= (n.5927-16T=) c.5924-16T= (n.5924-16T=) | |
2 | g.71679044C>A | CA533655824 | DYSF | c.3299-13C>A (n.3299-13C>A) c.2516-13C>A (n.2516-13C>A) c.2624-13C>A (n.2624-13C>A) c.5768-13C>A (n.5768-13C>A) c.5885-13C>A (n.5885-13C>A) c.5771-13C>A (n.5771-13C>A) c.5834-13C>A (n.5834-13C>A) c.5882-13C>A (n.5882-13C>A) c.5864-13C>A (n.5864-13C>A) c.5792-13C>A (n.5792-13C>A) c.5819-13C>A (n.5819-13C>A) c.5822-13C>A (n.5822-13C>A) c.5861-13C>A (n.5861-13C>A) c.5831-13C>A (n.5831-13C>A) n.2653-13C>A c.5726-13C>A (n.5726-13C>A) c.5789-13C>A (n.5789-13C>A) c.5729-13C>A (n.5729-13C>A) c.5927-13C>A (n.5927-13C>A) c.5924-13C>A (n.5924-13C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71679044C= | CA1260156816 | DYSF | c.3299-13C= (n.3299-13C=) c.2516-13C= (n.2516-13C=) c.2624-13C= (n.2624-13C=) c.5768-13C= (n.5768-13C=) c.5885-13C= (n.5885-13C=) c.5771-13C= (n.5771-13C=) c.5834-13C= (n.5834-13C=) c.5882-13C= (n.5882-13C=) c.5864-13C= (n.5864-13C=) c.5792-13C= (n.5792-13C=) c.5819-13C= (n.5819-13C=) c.5822-13C= (n.5822-13C=) c.5861-13C= (n.5861-13C=) c.5831-13C= (n.5831-13C=) n.2653-13C= c.5726-13C= (n.5726-13C=) c.5789-13C= (n.5789-13C=) c.5729-13C= (n.5729-13C=) c.5927-13C= (n.5927-13C=) c.5924-13C= (n.5924-13C=) | |
2 | g.71679045T>A | CA2697548261 | DYSF | c.3299-12T>A (n.3299-12T>A) c.2516-12T>A (n.2516-12T>A) c.2624-12T>A (n.2624-12T>A) c.5768-12T>A (n.5768-12T>A) c.5885-12T>A (n.5885-12T>A) c.5771-12T>A (n.5771-12T>A) c.5834-12T>A (n.5834-12T>A) c.5882-12T>A (n.5882-12T>A) c.5864-12T>A (n.5864-12T>A) c.5792-12T>A (n.5792-12T>A) c.5819-12T>A (n.5819-12T>A) c.5822-12T>A (n.5822-12T>A) c.5861-12T>A (n.5861-12T>A) c.5831-12T>A (n.5831-12T>A) n.2653-12T>A c.5726-12T>A (n.5726-12T>A) c.5789-12T>A (n.5789-12T>A) c.5729-12T>A (n.5729-12T>A) c.5927-12T>A (n.5927-12T>A) c.5924-12T>A (n.5924-12T>A) | ClinVar |
2 | g.71679045T>C | CA2659556030 | DYSF | c.3299-12T>C (n.3299-12T>C) c.2516-12T>C (n.2516-12T>C) c.2624-12T>C (n.2624-12T>C) c.5768-12T>C (n.5768-12T>C) c.5885-12T>C (n.5885-12T>C) c.5771-12T>C (n.5771-12T>C) c.5834-12T>C (n.5834-12T>C) c.5882-12T>C (n.5882-12T>C) c.5864-12T>C (n.5864-12T>C) c.5792-12T>C (n.5792-12T>C) c.5819-12T>C (n.5819-12T>C) c.5822-12T>C (n.5822-12T>C) c.5861-12T>C (n.5861-12T>C) c.5831-12T>C (n.5831-12T>C) n.2653-12T>C c.5726-12T>C (n.5726-12T>C) c.5789-12T>C (n.5789-12T>C) c.5729-12T>C (n.5729-12T>C) c.5927-12T>C (n.5927-12T>C) c.5924-12T>C (n.5924-12T>C) | ClinVar gnomAD v4 |
2 | g.71679046C>A | CA2659556031 | DYSF | c.3299-11C>A (n.3299-11C>A) c.2516-11C>A (n.2516-11C>A) c.2624-11C>A (n.2624-11C>A) c.5768-11C>A (n.5768-11C>A) c.5885-11C>A (n.5885-11C>A) c.5771-11C>A (n.5771-11C>A) c.5834-11C>A (n.5834-11C>A) c.5882-11C>A (n.5882-11C>A) c.5864-11C>A (n.5864-11C>A) c.5792-11C>A (n.5792-11C>A) c.5819-11C>A (n.5819-11C>A) c.5822-11C>A (n.5822-11C>A) c.5861-11C>A (n.5861-11C>A) c.5831-11C>A (n.5831-11C>A) n.2653-11C>A c.5726-11C>A (n.5726-11C>A) c.5789-11C>A (n.5789-11C>A) c.5729-11C>A (n.5729-11C>A) c.5927-11C>A (n.5927-11C>A) c.5924-11C>A (n.5924-11C>A) | gnomAD v4 |
2 | g.71679046C>G | CA2659556032 | DYSF | c.3299-11C>G (n.3299-11C>G) c.2516-11C>G (n.2516-11C>G) c.2624-11C>G (n.2624-11C>G) c.5768-11C>G (n.5768-11C>G) c.5885-11C>G (n.5885-11C>G) c.5771-11C>G (n.5771-11C>G) c.5834-11C>G (n.5834-11C>G) c.5882-11C>G (n.5882-11C>G) c.5864-11C>G (n.5864-11C>G) c.5792-11C>G (n.5792-11C>G) c.5819-11C>G (n.5819-11C>G) c.5822-11C>G (n.5822-11C>G) c.5861-11C>G (n.5861-11C>G) c.5831-11C>G (n.5831-11C>G) n.2653-11C>G c.5726-11C>G (n.5726-11C>G) c.5789-11C>G (n.5789-11C>G) c.5729-11C>G (n.5729-11C>G) c.5927-11C>G (n.5927-11C>G) c.5924-11C>G (n.5924-11C>G) | gnomAD v4 |
2 | g.71679048C>T | CA2659556033 | DYSF | c.3299-9C>T (n.3299-9C>T) c.2516-9C>T (n.2516-9C>T) c.2624-9C>T (n.2624-9C>T) c.5768-9C>T (n.5768-9C>T) c.5885-9C>T (n.5885-9C>T) c.5771-9C>T (n.5771-9C>T) c.5834-9C>T (n.5834-9C>T) c.5882-9C>T (n.5882-9C>T) c.5864-9C>T (n.5864-9C>T) c.5792-9C>T (n.5792-9C>T) c.5819-9C>T (n.5819-9C>T) c.5822-9C>T (n.5822-9C>T) c.5861-9C>T (n.5861-9C>T) c.5831-9C>T (n.5831-9C>T) n.2653-9C>T c.5726-9C>T (n.5726-9C>T) c.5789-9C>T (n.5789-9C>T) c.5729-9C>T (n.5729-9C>T) c.5927-9C>T (n.5927-9C>T) c.5924-9C>T (n.5924-9C>T) | gnomAD v4 |
2 | g.71679049T>C | CA2573135975 | DYSF | c.3299-8T>C (n.3299-8T>C) c.2516-8T>C (n.2516-8T>C) c.2624-8T>C (n.2624-8T>C) c.5768-8T>C (n.5768-8T>C) c.5885-8T>C (n.5885-8T>C) c.5771-8T>C (n.5771-8T>C) c.5834-8T>C (n.5834-8T>C) c.5882-8T>C (n.5882-8T>C) c.5864-8T>C (n.5864-8T>C) c.5792-8T>C (n.5792-8T>C) c.5819-8T>C (n.5819-8T>C) c.5822-8T>C (n.5822-8T>C) c.5861-8T>C (n.5861-8T>C) c.5831-8T>C (n.5831-8T>C) n.2653-8T>C c.5726-8T>C (n.5726-8T>C) c.5789-8T>C (n.5789-8T>C) c.5729-8T>C (n.5729-8T>C) c.5927-8T>C (n.5927-8T>C) c.5924-8T>C (n.5924-8T>C) | ClinVar dbSNP |
2 | g.71679050G>A | CA2580067933 | DYSF | c.3299-7G>A (n.3299-7G>A) c.2516-7G>A (n.2516-7G>A) c.2624-7G>A (n.2624-7G>A) c.5768-7G>A (n.5768-7G>A) c.5885-7G>A (n.5885-7G>A) c.5771-7G>A (n.5771-7G>A) c.5834-7G>A (n.5834-7G>A) c.5882-7G>A (n.5882-7G>A) c.5864-7G>A (n.5864-7G>A) c.5792-7G>A (n.5792-7G>A) c.5819-7G>A (n.5819-7G>A) c.5822-7G>A (n.5822-7G>A) c.5861-7G>A (n.5861-7G>A) c.5831-7G>A (n.5831-7G>A) n.2653-7G>A c.5726-7G>A (n.5726-7G>A) c.5789-7G>A (n.5789-7G>A) c.5729-7G>A (n.5729-7G>A) c.5927-7G>A (n.5927-7G>A) c.5924-7G>A (n.5924-7G>A) | ClinVar |
2 | g.71679050_71679051insCAAAAAC | CA2659556034 | DYSF | c.3299-7_3299-6insCAAAAAC (n.3299-7_3299-6insCAAAAAC) c.2516-7_2516-6insCAAAAAC (n.2516-7_2516-6insCAAAAAC) c.2624-7_2624-6insCAAAAAC (n.2624-7_2624-6insCAAAAAC) c.5768-7_5768-6insCAAAAAC (n.5768-7_5768-6insCAAAAAC) c.5885-7_5885-6insCAAAAAC (n.5885-7_5885-6insCAAAAAC) c.5771-7_5771-6insCAAAAAC (n.5771-7_5771-6insCAAAAAC) c.5834-7_5834-6insCAAAAAC (n.5834-7_5834-6insCAAAAAC) c.5882-7_5882-6insCAAAAAC (n.5882-7_5882-6insCAAAAAC) c.5864-7_5864-6insCAAAAAC (n.5864-7_5864-6insCAAAAAC) c.5792-7_5792-6insCAAAAAC (n.5792-7_5792-6insCAAAAAC) c.5819-7_5819-6insCAAAAAC (n.5819-7_5819-6insCAAAAAC) c.5822-7_5822-6insCAAAAAC (n.5822-7_5822-6insCAAAAAC) c.5861-7_5861-6insCAAAAAC (n.5861-7_5861-6insCAAAAAC) c.5831-7_5831-6insCAAAAAC (n.5831-7_5831-6insCAAAAAC) n.2653-7_2653-6insCAAAAAC c.5726-7_5726-6insCAAAAAC (n.5726-7_5726-6insCAAAAAC) c.5789-7_5789-6insCAAAAAC (n.5789-7_5789-6insCAAAAAC) c.5729-7_5729-6insCAAAAAC (n.5729-7_5729-6insCAAAAAC) c.5927-7_5927-6insCAAAAAC (n.5927-7_5927-6insCAAAAAC) c.5924-7_5924-6insCAAAAAC (n.5924-7_5924-6insCAAAAAC) | gnomAD v4 |
2 | g.71679051T>A | CA2659556035 | DYSF | c.3299-6T>A (n.3299-6T>A) c.2516-6T>A (n.2516-6T>A) c.2624-6T>A (n.2624-6T>A) c.5768-6T>A (n.5768-6T>A) c.5885-6T>A (n.5885-6T>A) c.5771-6T>A (n.5771-6T>A) c.5834-6T>A (n.5834-6T>A) c.5882-6T>A (n.5882-6T>A) c.5864-6T>A (n.5864-6T>A) c.5792-6T>A (n.5792-6T>A) c.5819-6T>A (n.5819-6T>A) c.5822-6T>A (n.5822-6T>A) c.5861-6T>A (n.5861-6T>A) c.5831-6T>A (n.5831-6T>A) n.2653-6T>A c.5726-6T>A (n.5726-6T>A) c.5789-6T>A (n.5789-6T>A) c.5729-6T>A (n.5729-6T>A) c.5927-6T>A (n.5927-6T>A) c.5924-6T>A (n.5924-6T>A) | gnomAD v4 |
2 | g.71679051T>C | CA892684979 | DYSF | c.3299-6T>C (n.3299-6T>C) c.2516-6T>C (n.2516-6T>C) c.2624-6T>C (n.2624-6T>C) c.5768-6T>C (n.5768-6T>C) c.5885-6T>C (n.5885-6T>C) c.5771-6T>C (n.5771-6T>C) c.5834-6T>C (n.5834-6T>C) c.5882-6T>C (n.5882-6T>C) c.5864-6T>C (n.5864-6T>C) c.5792-6T>C (n.5792-6T>C) c.5819-6T>C (n.5819-6T>C) c.5822-6T>C (n.5822-6T>C) c.5861-6T>C (n.5861-6T>C) c.5831-6T>C (n.5831-6T>C) n.2653-6T>C c.5726-6T>C (n.5726-6T>C) c.5789-6T>C (n.5789-6T>C) c.5729-6T>C (n.5729-6T>C) c.5927-6T>C (n.5927-6T>C) c.5924-6T>C (n.5924-6T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.71679051T= | CA1260156817 | DYSF | c.3299-6T= (n.3299-6T=) c.2516-6T= (n.2516-6T=) c.2624-6T= (n.2624-6T=) c.5768-6T= (n.5768-6T=) c.5885-6T= (n.5885-6T=) c.5771-6T= (n.5771-6T=) c.5834-6T= (n.5834-6T=) c.5882-6T= (n.5882-6T=) c.5864-6T= (n.5864-6T=) c.5792-6T= (n.5792-6T=) c.5819-6T= (n.5819-6T=) c.5822-6T= (n.5822-6T=) c.5861-6T= (n.5861-6T=) c.5831-6T= (n.5831-6T=) n.2653-6T= c.5726-6T= (n.5726-6T=) c.5789-6T= (n.5789-6T=) c.5729-6T= (n.5729-6T=) c.5927-6T= (n.5927-6T=) c.5924-6T= (n.5924-6T=) | |
2 | g.71679053G= | CA1260156818 | DYSF | c.3299-4G= (n.3299-4G=) c.2516-4G= (n.2516-4G=) c.2624-4G= (n.2624-4G=) c.5768-4G= (n.5768-4G=) c.5885-4G= (n.5885-4G=) c.5771-4G= (n.5771-4G=) c.5834-4G= (n.5834-4G=) c.5882-4G= (n.5882-4G=) c.5864-4G= (n.5864-4G=) c.5792-4G= (n.5792-4G=) c.5819-4G= (n.5819-4G=) c.5822-4G= (n.5822-4G=) c.5861-4G= (n.5861-4G=) c.5831-4G= (n.5831-4G=) n.2653-4G= c.5726-4G= (n.5726-4G=) c.5789-4G= (n.5789-4G=) c.5729-4G= (n.5729-4G=) c.5927-4G= (n.5927-4G=) c.5924-4G= (n.5924-4G=) | |
2 | g.71679053G>T | CA1707540 | DYSF | c.3299-4G>T (n.3299-4G>T) c.2516-4G>T (n.2516-4G>T) c.2624-4G>T (n.2624-4G>T) c.5768-4G>T (n.5768-4G>T) c.5885-4G>T (n.5885-4G>T) c.5771-4G>T (n.5771-4G>T) c.5834-4G>T (n.5834-4G>T) c.5882-4G>T (n.5882-4G>T) c.5864-4G>T (n.5864-4G>T) c.5792-4G>T (n.5792-4G>T) c.5819-4G>T (n.5819-4G>T) c.5822-4G>T (n.5822-4G>T) c.5861-4G>T (n.5861-4G>T) c.5831-4G>T (n.5831-4G>T) n.2653-4G>T c.5726-4G>T (n.5726-4G>T) c.5789-4G>T (n.5789-4G>T) c.5729-4G>T (n.5729-4G>T) c.5927-4G>T (n.5927-4G>T) c.5924-4G>T (n.5924-4G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71679054C= | CA1260156819 | DYSF | c.3299-3C= (n.3299-3C=) c.2516-3C= (n.2516-3C=) c.2624-3C= (n.2624-3C=) c.5768-3C= (n.5768-3C=) c.5885-3C= (n.5885-3C=) c.5771-3C= (n.5771-3C=) c.5834-3C= (n.5834-3C=) c.5882-3C= (n.5882-3C=) c.5864-3C= (n.5864-3C=) c.5792-3C= (n.5792-3C=) c.5819-3C= (n.5819-3C=) c.5822-3C= (n.5822-3C=) c.5861-3C= (n.5861-3C=) c.5831-3C= (n.5831-3C=) n.2653-3C= c.5726-3C= (n.5726-3C=) c.5789-3C= (n.5789-3C=) c.5729-3C= (n.5729-3C=) c.5927-3C= (n.5927-3C=) c.5924-3C= (n.5924-3C=) | |
2 | g.71679054C>T | CA892684982 | DYSF | c.3299-3C>T (n.3299-3C>T) c.2516-3C>T (n.2516-3C>T) c.2624-3C>T (n.2624-3C>T) c.5768-3C>T (n.5768-3C>T) c.5885-3C>T (n.5885-3C>T) c.5771-3C>T (n.5771-3C>T) c.5834-3C>T (n.5834-3C>T) c.5882-3C>T (n.5882-3C>T) c.5864-3C>T (n.5864-3C>T) c.5792-3C>T (n.5792-3C>T) c.5819-3C>T (n.5819-3C>T) c.5822-3C>T (n.5822-3C>T) c.5861-3C>T (n.5861-3C>T) c.5831-3C>T (n.5831-3C>T) n.2653-3C>T c.5726-3C>T (n.5726-3C>T) c.5789-3C>T (n.5789-3C>T) c.5729-3C>T (n.5729-3C>T) c.5927-3C>T (n.5927-3C>T) c.5924-3C>T (n.5924-3C>T) | dbSNP |
2 | g.71679054_71679055insCAAAAACC | CA2659556036 | DYSF | c.3299-3_3299-2insCAAAAACC (n.3299-3_3299-2insCAAAAACC) c.2516-3_2516-2insCAAAAACC (n.2516-3_2516-2insCAAAAACC) c.2624-3_2624-2insCAAAAACC (n.2624-3_2624-2insCAAAAACC) c.5768-3_5768-2insCAAAAACC (n.5768-3_5768-2insCAAAAACC) c.5885-3_5885-2insCAAAAACC (n.5885-3_5885-2insCAAAAACC) c.5771-3_5771-2insCAAAAACC (n.5771-3_5771-2insCAAAAACC) c.5834-3_5834-2insCAAAAACC (n.5834-3_5834-2insCAAAAACC) c.5882-3_5882-2insCAAAAACC (n.5882-3_5882-2insCAAAAACC) c.5864-3_5864-2insCAAAAACC (n.5864-3_5864-2insCAAAAACC) c.5792-3_5792-2insCAAAAACC (n.5792-3_5792-2insCAAAAACC) c.5819-3_5819-2insCAAAAACC (n.5819-3_5819-2insCAAAAACC) c.5822-3_5822-2insCAAAAACC (n.5822-3_5822-2insCAAAAACC) c.5861-3_5861-2insCAAAAACC (n.5861-3_5861-2insCAAAAACC) c.5831-3_5831-2insCAAAAACC (n.5831-3_5831-2insCAAAAACC) n.2653-3_2653-2insCAAAAACC c.5726-3_5726-2insCAAAAACC (n.5726-3_5726-2insCAAAAACC) c.5789-3_5789-2insCAAAAACC (n.5789-3_5789-2insCAAAAACC) c.5729-3_5729-2insCAAAAACC (n.5729-3_5729-2insCAAAAACC) c.5927-3_5927-2insCAAAAACC (n.5927-3_5927-2insCAAAAACC) c.5924-3_5924-2insCAAAAACC (n.5924-3_5924-2insCAAAAACC) | gnomAD v4 |
2 | g.71679055A>C | CA347226207 | DYSF | c.3299-2A>C (n.3299-2A>C) c.2516-2A>C (n.2516-2A>C) c.2624-2A>C (n.2624-2A>C) c.5768-2A>C (n.5768-2A>C) c.5885-2A>C (n.5885-2A>C) c.5771-2A>C (n.5771-2A>C) c.5834-2A>C (n.5834-2A>C) c.5882-2A>C (n.5882-2A>C) c.5864-2A>C (n.5864-2A>C) c.5792-2A>C (n.5792-2A>C) c.5819-2A>C (n.5819-2A>C) c.5822-2A>C (n.5822-2A>C) c.5861-2A>C (n.5861-2A>C) c.5831-2A>C (n.5831-2A>C) n.2653-2A>C c.5726-2A>C (n.5726-2A>C) c.5789-2A>C (n.5789-2A>C) c.5729-2A>C (n.5729-2A>C) c.5927-2A>C (n.5927-2A>C) c.5924-2A>C (n.5924-2A>C) | |
2 | g.71679055A>G | CA347226208 | DYSF | c.3299-2A>G (n.3299-2A>G) c.2516-2A>G (n.2516-2A>G) c.2624-2A>G (n.2624-2A>G) c.5768-2A>G (n.5768-2A>G) c.5885-2A>G (n.5885-2A>G) c.5771-2A>G (n.5771-2A>G) c.5834-2A>G (n.5834-2A>G) c.5882-2A>G (n.5882-2A>G) c.5864-2A>G (n.5864-2A>G) c.5792-2A>G (n.5792-2A>G) c.5819-2A>G (n.5819-2A>G) c.5822-2A>G (n.5822-2A>G) c.5861-2A>G (n.5861-2A>G) c.5831-2A>G (n.5831-2A>G) n.2653-2A>G c.5726-2A>G (n.5726-2A>G) c.5789-2A>G (n.5789-2A>G) c.5729-2A>G (n.5729-2A>G) c.5927-2A>G (n.5927-2A>G) c.5924-2A>G (n.5924-2A>G) | |
2 | g.71679055A>T | CA347226209 | DYSF | c.3299-2A>T (n.3299-2A>T) c.2516-2A>T (n.2516-2A>T) c.2624-2A>T (n.2624-2A>T) c.5768-2A>T (n.5768-2A>T) c.5885-2A>T (n.5885-2A>T) c.5771-2A>T (n.5771-2A>T) c.5834-2A>T (n.5834-2A>T) c.5882-2A>T (n.5882-2A>T) c.5864-2A>T (n.5864-2A>T) c.5792-2A>T (n.5792-2A>T) c.5819-2A>T (n.5819-2A>T) c.5822-2A>T (n.5822-2A>T) c.5861-2A>T (n.5861-2A>T) c.5831-2A>T (n.5831-2A>T) n.2653-2A>T c.5726-2A>T (n.5726-2A>T) c.5789-2A>T (n.5789-2A>T) c.5729-2A>T (n.5729-2A>T) c.5927-2A>T (n.5927-2A>T) c.5924-2A>T (n.5924-2A>T) | |
2 | g.71679056G>A | CA347226210 | DYSF | c.3299-1G>A (n.3299-1G>A) c.2516-1G>A (n.2516-1G>A) c.2624-1G>A (n.2624-1G>A) c.5768-1G>A (n.5768-1G>A) c.5885-1G>A (n.5885-1G>A) c.5771-1G>A (n.5771-1G>A) c.5834-1G>A (n.5834-1G>A) c.5882-1G>A (n.5882-1G>A) c.5864-1G>A (n.5864-1G>A) c.5792-1G>A (n.5792-1G>A) c.5819-1G>A (n.5819-1G>A) c.5822-1G>A (n.5822-1G>A) c.5861-1G>A (n.5861-1G>A) c.5831-1G>A (n.5831-1G>A) n.2653-1G>A c.5726-1G>A (n.5726-1G>A) c.5789-1G>A (n.5789-1G>A) c.5729-1G>A (n.5729-1G>A) c.5927-1G>A (n.5927-1G>A) c.5924-1G>A (n.5924-1G>A) | ClinVar |
2 | g.71679056G>C | CA1707541 | DYSF | c.3299-1G>C (n.3299-1G>C) c.2516-1G>C (n.2516-1G>C) c.2624-1G>C (n.2624-1G>C) c.5768-1G>C (n.5768-1G>C) c.5885-1G>C (n.5885-1G>C) c.5771-1G>C (n.5771-1G>C) c.5834-1G>C (n.5834-1G>C) c.5882-1G>C (n.5882-1G>C) c.5864-1G>C (n.5864-1G>C) c.5792-1G>C (n.5792-1G>C) c.5819-1G>C (n.5819-1G>C) c.5822-1G>C (n.5822-1G>C) c.5861-1G>C (n.5861-1G>C) c.5831-1G>C (n.5831-1G>C) n.2653-1G>C c.5726-1G>C (n.5726-1G>C) c.5789-1G>C (n.5789-1G>C) c.5729-1G>C (n.5729-1G>C) c.5927-1G>C (n.5927-1G>C) c.5924-1G>C (n.5924-1G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679056G= | CA1260156820 | DYSF | c.3299-1G= (n.3299-1G=) c.2516-1G= (n.2516-1G=) c.2624-1G= (n.2624-1G=) c.5768-1G= (n.5768-1G=) c.5885-1G= (n.5885-1G=) c.5771-1G= (n.5771-1G=) c.5834-1G= (n.5834-1G=) c.5882-1G= (n.5882-1G=) c.5864-1G= (n.5864-1G=) c.5792-1G= (n.5792-1G=) c.5819-1G= (n.5819-1G=) c.5822-1G= (n.5822-1G=) c.5861-1G= (n.5861-1G=) c.5831-1G= (n.5831-1G=) n.2653-1G= c.5726-1G= (n.5726-1G=) c.5789-1G= (n.5789-1G=) c.5729-1G= (n.5729-1G=) c.5927-1G= (n.5927-1G=) c.5924-1G= (n.5924-1G=) | |
2 | g.71679056G>T | CA347226211 | DYSF | c.3299-1G>T (n.3299-1G>T) c.2516-1G>T (n.2516-1G>T) c.2624-1G>T (n.2624-1G>T) c.5768-1G>T (n.5768-1G>T) c.5885-1G>T (n.5885-1G>T) c.5771-1G>T (n.5771-1G>T) c.5834-1G>T (n.5834-1G>T) c.5882-1G>T (n.5882-1G>T) c.5864-1G>T (n.5864-1G>T) c.5792-1G>T (n.5792-1G>T) c.5819-1G>T (n.5819-1G>T) c.5822-1G>T (n.5822-1G>T) c.5861-1G>T (n.5861-1G>T) c.5831-1G>T (n.5831-1G>T) n.2653-1G>T c.5726-1G>T (n.5726-1G>T) c.5789-1G>T (n.5789-1G>T) c.5729-1G>T (n.5729-1G>T) c.5927-1G>T (n.5927-1G>T) c.5924-1G>T (n.5924-1G>T) | |
2 | g.71679057G>A | CA347226212 | DYSF | c.3299G>A (p.Gly1100Asp) c.2516G>A (p.Gly839Asp) c.2624G>A (p.Gly875Asp) c.5768G>A (p.Gly1923Asp) c.5885G>A (p.Gly1962Asp) c.5771G>A (p.Gly1924Asp) c.5834G>A (p.Gly1945Asp) c.5882G>A (p.Gly1961Asp) c.5864G>A (p.Gly1955Asp) c.5792G>A (p.Gly1931Asp) c.5819G>A (p.Gly1940Asp) c.5822G>A (p.Gly1941Asp) c.5861G>A (p.Gly1954Asp) c.5831G>A (p.Gly1944Asp) n.2653G>A c.5726G>A (p.Gly1909Asp) c.5789G>A (p.Gly1930Asp) c.5729G>A (p.Gly1910Asp) c.5927G>A (p.Gly1976Asp) c.5924G>A (p.Gly1975Asp) | |
2 | g.71679057G>C | CA347226214 | DYSF | c.3299G>C (p.Gly1100Ala) c.2516G>C (p.Gly839Ala) c.2624G>C (p.Gly875Ala) c.5768G>C (p.Gly1923Ala) c.5885G>C (p.Gly1962Ala) c.5771G>C (p.Gly1924Ala) c.5834G>C (p.Gly1945Ala) c.5882G>C (p.Gly1961Ala) c.5864G>C (p.Gly1955Ala) c.5792G>C (p.Gly1931Ala) c.5819G>C (p.Gly1940Ala) c.5822G>C (p.Gly1941Ala) c.5861G>C (p.Gly1954Ala) c.5831G>C (p.Gly1944Ala) n.2653G>C c.5726G>C (p.Gly1909Ala) c.5789G>C (p.Gly1930Ala) c.5729G>C (p.Gly1910Ala) c.5927G>C (p.Gly1976Ala) c.5924G>C (p.Gly1975Ala) | |
2 | g.71679057G>T | CA347226213 | DYSF | c.3299G>T (p.Gly1100Val) c.2516G>T (p.Gly839Val) c.2624G>T (p.Gly875Val) c.5768G>T (p.Gly1923Val) c.5885G>T (p.Gly1962Val) c.5771G>T (p.Gly1924Val) c.5834G>T (p.Gly1945Val) c.5882G>T (p.Gly1961Val) c.5864G>T (p.Gly1955Val) c.5792G>T (p.Gly1931Val) c.5819G>T (p.Gly1940Val) c.5822G>T (p.Gly1941Val) c.5861G>T (p.Gly1954Val) c.5831G>T (p.Gly1944Val) n.2653G>T c.5726G>T (p.Gly1909Val) c.5789G>T (p.Gly1930Val) c.5729G>T (p.Gly1910Val) c.5927G>T (p.Gly1976Val) c.5924G>T (p.Gly1975Val) | |
2 | g.71679058C>A | CA426704652 | DYSF | c.3300C>A (p.Gly1100=) c.2517C>A (p.Gly839=) c.2625C>A (p.Gly875=) c.5769C>A (p.Gly1923=) c.5886C>A (p.Gly1962=) c.5772C>A (p.Gly1924=) c.5835C>A (p.Gly1945=) c.5883C>A (p.Gly1961=) c.5865C>A (p.Gly1955=) c.5793C>A (p.Gly1931=) c.5820C>A (p.Gly1940=) c.5823C>A (p.Gly1941=) c.5862C>A (p.Gly1954=) c.5832C>A (p.Gly1944=) n.2654C>A c.5727C>A (p.Gly1909=) c.5790C>A (p.Gly1930=) c.5730C>A (p.Gly1910=) c.5928C>A (p.Gly1976=) c.5925C>A (p.Gly1975=) | dbSNP |
2 | g.71679058C= | CA1260156821 | DYSF | c.3300C= (p.Gly1100=) c.2517C= (p.Gly839=) c.2625C= (p.Gly875=) c.5769C= (p.Gly1923=) c.5886C= (p.Gly1962=) c.5772C= (p.Gly1924=) c.5835C= (p.Gly1945=) c.5883C= (p.Gly1961=) c.5865C= (p.Gly1955=) c.5793C= (p.Gly1931=) c.5820C= (p.Gly1940=) c.5823C= (p.Gly1941=) c.5862C= (p.Gly1954=) c.5832C= (p.Gly1944=) n.2654C= c.5727C= (p.Gly1909=) c.5790C= (p.Gly1930=) c.5730C= (p.Gly1910=) c.5928C= (p.Gly1976=) c.5925C= (p.Gly1975=) | |
2 | g.71679058C>G | CA426704653 | DYSF | c.3300C>G (p.Gly1100=) c.2517C>G (p.Gly839=) c.2625C>G (p.Gly875=) c.5769C>G (p.Gly1923=) c.5886C>G (p.Gly1962=) c.5772C>G (p.Gly1924=) c.5835C>G (p.Gly1945=) c.5883C>G (p.Gly1961=) c.5865C>G (p.Gly1955=) c.5793C>G (p.Gly1931=) c.5820C>G (p.Gly1940=) c.5823C>G (p.Gly1941=) c.5862C>G (p.Gly1954=) c.5832C>G (p.Gly1944=) n.2654C>G c.5727C>G (p.Gly1909=) c.5790C>G (p.Gly1930=) c.5730C>G (p.Gly1910=) c.5928C>G (p.Gly1976=) c.5925C>G (p.Gly1975=) | |
2 | g.71679058C>T | CA426704654 | DYSF | c.3300C>T (p.Gly1100=) c.2517C>T (p.Gly839=) c.2625C>T (p.Gly875=) c.5769C>T (p.Gly1923=) c.5886C>T (p.Gly1962=) c.5772C>T (p.Gly1924=) c.5835C>T (p.Gly1945=) c.5883C>T (p.Gly1961=) c.5865C>T (p.Gly1955=) c.5793C>T (p.Gly1931=) c.5820C>T (p.Gly1940=) c.5823C>T (p.Gly1941=) c.5862C>T (p.Gly1954=) c.5832C>T (p.Gly1944=) n.2654C>T c.5727C>T (p.Gly1909=) c.5790C>T (p.Gly1930=) c.5730C>T (p.Gly1910=) c.5928C>T (p.Gly1976=) c.5925C>T (p.Gly1975=) | gnomAD v4 |
2 | g.71679059T>A | CA347226215 | DYSF | c.3301T>A (p.Ser1101Thr) c.2518T>A (p.Ser840Thr) c.2626T>A (p.Ser876Thr) c.5770T>A (p.Ser1924Thr) c.5887T>A (p.Ser1963Thr) c.5773T>A (p.Ser1925Thr) c.5836T>A (p.Ser1946Thr) c.5884T>A (p.Ser1962Thr) c.5866T>A (p.Ser1956Thr) c.5794T>A (p.Ser1932Thr) c.5821T>A (p.Ser1941Thr) c.5824T>A (p.Ser1942Thr) c.5863T>A (p.Ser1955Thr) c.5833T>A (p.Ser1945Thr) n.2655T>A c.5728T>A (p.Ser1910Thr) c.5791T>A (p.Ser1931Thr) c.5731T>A (p.Ser1911Thr) c.5929T>A (p.Ser1977Thr) c.5926T>A (p.Ser1976Thr) | |
2 | g.71679059T>C | CA347226216 | DYSF | c.3301T>C (p.Ser1101Pro) c.2518T>C (p.Ser840Pro) c.2626T>C (p.Ser876Pro) c.5770T>C (p.Ser1924Pro) c.5887T>C (p.Ser1963Pro) c.5773T>C (p.Ser1925Pro) c.5836T>C (p.Ser1946Pro) c.5884T>C (p.Ser1962Pro) c.5866T>C (p.Ser1956Pro) c.5794T>C (p.Ser1932Pro) c.5821T>C (p.Ser1941Pro) c.5824T>C (p.Ser1942Pro) c.5863T>C (p.Ser1955Pro) c.5833T>C (p.Ser1945Pro) n.2655T>C c.5728T>C (p.Ser1910Pro) c.5791T>C (p.Ser1931Pro) c.5731T>C (p.Ser1911Pro) c.5929T>C (p.Ser1977Pro) c.5926T>C (p.Ser1976Pro) | ClinVar dbSNP |
2 | g.71679059T>G | CA347226217 | DYSF | c.3301T>G (p.Ser1101Ala) c.2518T>G (p.Ser840Ala) c.2626T>G (p.Ser876Ala) c.5770T>G (p.Ser1924Ala) c.5887T>G (p.Ser1963Ala) c.5773T>G (p.Ser1925Ala) c.5836T>G (p.Ser1946Ala) c.5884T>G (p.Ser1962Ala) c.5866T>G (p.Ser1956Ala) c.5794T>G (p.Ser1932Ala) c.5821T>G (p.Ser1941Ala) c.5824T>G (p.Ser1942Ala) c.5863T>G (p.Ser1955Ala) c.5833T>G (p.Ser1945Ala) n.2655T>G c.5728T>G (p.Ser1910Ala) c.5791T>G (p.Ser1931Ala) c.5731T>G (p.Ser1911Ala) c.5929T>G (p.Ser1977Ala) c.5926T>G (p.Ser1976Ala) | |
2 | g.71679060C>A | CA347226218 | DYSF | c.3302C>A (p.Ser1101Tyr) c.2519C>A (p.Ser840Tyr) c.2627C>A (p.Ser876Tyr) c.5771C>A (p.Ser1924Tyr) c.5888C>A (p.Ser1963Tyr) c.5774C>A (p.Ser1925Tyr) c.5837C>A (p.Ser1946Tyr) c.5885C>A (p.Ser1962Tyr) c.5867C>A (p.Ser1956Tyr) c.5795C>A (p.Ser1932Tyr) c.5822C>A (p.Ser1941Tyr) c.5825C>A (p.Ser1942Tyr) c.5864C>A (p.Ser1955Tyr) c.5834C>A (p.Ser1945Tyr) n.2656C>A c.5729C>A (p.Ser1910Tyr) c.5792C>A (p.Ser1931Tyr) c.5732C>A (p.Ser1911Tyr) c.5930C>A (p.Ser1977Tyr) c.5927C>A (p.Ser1976Tyr) | |
2 | g.71679060C= | CA1260156822 | DYSF | c.3302C= (p.Ser1101=) c.2519C= (p.Ser840=) c.2627C= (p.Ser876=) c.5771C= (p.Ser1924=) c.5888C= (p.Ser1963=) c.5774C= (p.Ser1925=) c.5837C= (p.Ser1946=) c.5885C= (p.Ser1962=) c.5867C= (p.Ser1956=) c.5795C= (p.Ser1932=) c.5822C= (p.Ser1941=) c.5825C= (p.Ser1942=) c.5864C= (p.Ser1955=) c.5834C= (p.Ser1945=) n.2656C= c.5729C= (p.Ser1910=) c.5792C= (p.Ser1931=) c.5732C= (p.Ser1911=) c.5930C= (p.Ser1977=) c.5927C= (p.Ser1976=) | |
2 | g.71679060C>G | CA347226219 | DYSF | c.3302C>G (p.Ser1101Cys) c.2519C>G (p.Ser840Cys) c.2627C>G (p.Ser876Cys) c.5771C>G (p.Ser1924Cys) c.5888C>G (p.Ser1963Cys) c.5774C>G (p.Ser1925Cys) c.5837C>G (p.Ser1946Cys) c.5885C>G (p.Ser1962Cys) c.5867C>G (p.Ser1956Cys) c.5795C>G (p.Ser1932Cys) c.5822C>G (p.Ser1941Cys) c.5825C>G (p.Ser1942Cys) c.5864C>G (p.Ser1955Cys) c.5834C>G (p.Ser1945Cys) n.2656C>G c.5729C>G (p.Ser1910Cys) c.5792C>G (p.Ser1931Cys) c.5732C>G (p.Ser1911Cys) c.5930C>G (p.Ser1977Cys) c.5927C>G (p.Ser1976Cys) | |
2 | g.71679060C>T | CA1707542 | DYSF | c.3302C>T (p.Ser1101Phe) c.2519C>T (p.Ser840Phe) c.2627C>T (p.Ser876Phe) c.5771C>T (p.Ser1924Phe) c.5888C>T (p.Ser1963Phe) c.5774C>T (p.Ser1925Phe) c.5837C>T (p.Ser1946Phe) c.5885C>T (p.Ser1962Phe) c.5867C>T (p.Ser1956Phe) c.5795C>T (p.Ser1932Phe) c.5822C>T (p.Ser1941Phe) c.5825C>T (p.Ser1942Phe) c.5864C>T (p.Ser1955Phe) c.5834C>T (p.Ser1945Phe) n.2656C>T c.5729C>T (p.Ser1910Phe) c.5792C>T (p.Ser1931Phe) c.5732C>T (p.Ser1911Phe) c.5930C>T (p.Ser1977Phe) c.5927C>T (p.Ser1976Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679061C>A | CA426704657 | DYSF | c.3303C>A (p.Ser1101=) c.2520C>A (p.Ser840=) c.2628C>A (p.Ser876=) c.5772C>A (p.Ser1924=) c.5889C>A (p.Ser1963=) c.5775C>A (p.Ser1925=) c.5838C>A (p.Ser1946=) c.5886C>A (p.Ser1962=) c.5868C>A (p.Ser1956=) c.5796C>A (p.Ser1932=) c.5823C>A (p.Ser1941=) c.5826C>A (p.Ser1942=) c.5865C>A (p.Ser1955=) c.5835C>A (p.Ser1945=) n.2657C>A c.5730C>A (p.Ser1910=) c.5793C>A (p.Ser1931=) c.5733C>A (p.Ser1911=) c.5931C>A (p.Ser1977=) c.5928C>A (p.Ser1976=) | |
2 | g.71679061C>G | CA426704658 | DYSF | c.3303C>G (p.Ser1101=) c.2520C>G (p.Ser840=) c.2628C>G (p.Ser876=) c.5772C>G (p.Ser1924=) c.5889C>G (p.Ser1963=) c.5775C>G (p.Ser1925=) c.5838C>G (p.Ser1946=) c.5886C>G (p.Ser1962=) c.5868C>G (p.Ser1956=) c.5796C>G (p.Ser1932=) c.5823C>G (p.Ser1941=) c.5826C>G (p.Ser1942=) c.5865C>G (p.Ser1955=) c.5835C>G (p.Ser1945=) n.2657C>G c.5730C>G (p.Ser1910=) c.5793C>G (p.Ser1931=) c.5733C>G (p.Ser1911=) c.5931C>G (p.Ser1977=) c.5928C>G (p.Ser1976=) | |
2 | g.71679061C>T | CA426704659 | DYSF | c.3303C>T (p.Ser1101=) c.2520C>T (p.Ser840=) c.2628C>T (p.Ser876=) c.5772C>T (p.Ser1924=) c.5889C>T (p.Ser1963=) c.5775C>T (p.Ser1925=) c.5838C>T (p.Ser1946=) c.5886C>T (p.Ser1962=) c.5868C>T (p.Ser1956=) c.5796C>T (p.Ser1932=) c.5823C>T (p.Ser1941=) c.5826C>T (p.Ser1942=) c.5865C>T (p.Ser1955=) c.5835C>T (p.Ser1945=) n.2657C>T c.5730C>T (p.Ser1910=) c.5793C>T (p.Ser1931=) c.5733C>T (p.Ser1911=) c.5931C>T (p.Ser1977=) c.5928C>T (p.Ser1976=) | |
2 | g.71679062C>A | CA347226220 | DYSF | c.3304C>A (p.Leu1102Met) c.2521C>A (p.Leu841Met) c.2629C>A (p.Leu877Met) c.5773C>A (p.Leu1925Met) c.5890C>A (p.Leu1964Met) c.5776C>A (p.Leu1926Met) c.5839C>A (p.Leu1947Met) c.5887C>A (p.Leu1963Met) c.5869C>A (p.Leu1957Met) c.5797C>A (p.Leu1933Met) c.5824C>A (p.Leu1942Met) c.5827C>A (p.Leu1943Met) c.5866C>A (p.Leu1956Met) c.5836C>A (p.Leu1946Met) n.2658C>A c.5731C>A (p.Leu1911Met) c.5794C>A (p.Leu1932Met) c.5734C>A (p.Leu1912Met) c.5932C>A (p.Leu1978Met) c.5929C>A (p.Leu1977Met) | gnomAD v4 |
2 | g.71679062C>G | CA347226221 | DYSF | c.3304C>G (p.Leu1102Val) c.2521C>G (p.Leu841Val) c.2629C>G (p.Leu877Val) c.5773C>G (p.Leu1925Val) c.5890C>G (p.Leu1964Val) c.5776C>G (p.Leu1926Val) c.5839C>G (p.Leu1947Val) c.5887C>G (p.Leu1963Val) c.5869C>G (p.Leu1957Val) c.5797C>G (p.Leu1933Val) c.5824C>G (p.Leu1942Val) c.5827C>G (p.Leu1943Val) c.5866C>G (p.Leu1956Val) c.5836C>G (p.Leu1946Val) n.2658C>G c.5731C>G (p.Leu1911Val) c.5794C>G (p.Leu1932Val) c.5734C>G (p.Leu1912Val) c.5932C>G (p.Leu1978Val) c.5929C>G (p.Leu1977Val) | |
2 | g.71679062C>T | CA426704660 | DYSF | c.3304C>T (p.Leu1102=) c.2521C>T (p.Leu841=) c.2629C>T (p.Leu877=) c.5773C>T (p.Leu1925=) c.5890C>T (p.Leu1964=) c.5776C>T (p.Leu1926=) c.5839C>T (p.Leu1947=) c.5887C>T (p.Leu1963=) c.5869C>T (p.Leu1957=) c.5797C>T (p.Leu1933=) c.5824C>T (p.Leu1942=) c.5827C>T (p.Leu1943=) c.5866C>T (p.Leu1956=) c.5836C>T (p.Leu1946=) n.2658C>T c.5731C>T (p.Leu1911=) c.5794C>T (p.Leu1932=) c.5734C>T (p.Leu1912=) c.5932C>T (p.Leu1978=) c.5929C>T (p.Leu1977=) | |
2 | g.71679063T>A | CA347226222 | DYSF | c.3305T>A (p.Leu1102Gln) c.2522T>A (p.Leu841Gln) c.2630T>A (p.Leu877Gln) c.5774T>A (p.Leu1925Gln) c.5891T>A (p.Leu1964Gln) c.5777T>A (p.Leu1926Gln) c.5840T>A (p.Leu1947Gln) c.5888T>A (p.Leu1963Gln) c.5870T>A (p.Leu1957Gln) c.5798T>A (p.Leu1933Gln) c.5825T>A (p.Leu1942Gln) c.5828T>A (p.Leu1943Gln) c.5867T>A (p.Leu1956Gln) c.5837T>A (p.Leu1946Gln) n.2659T>A c.5732T>A (p.Leu1911Gln) c.5795T>A (p.Leu1932Gln) c.5735T>A (p.Leu1912Gln) c.5933T>A (p.Leu1978Gln) c.5930T>A (p.Leu1977Gln) | |
2 | g.71679063T>C | CA347226223 | DYSF | c.3305T>C (p.Leu1102Pro) c.2522T>C (p.Leu841Pro) c.2630T>C (p.Leu877Pro) c.5774T>C (p.Leu1925Pro) c.5891T>C (p.Leu1964Pro) c.5777T>C (p.Leu1926Pro) c.5840T>C (p.Leu1947Pro) c.5888T>C (p.Leu1963Pro) c.5870T>C (p.Leu1957Pro) c.5798T>C (p.Leu1933Pro) c.5825T>C (p.Leu1942Pro) c.5828T>C (p.Leu1943Pro) c.5867T>C (p.Leu1956Pro) c.5837T>C (p.Leu1946Pro) n.2659T>C c.5732T>C (p.Leu1911Pro) c.5795T>C (p.Leu1932Pro) c.5735T>C (p.Leu1912Pro) c.5933T>C (p.Leu1978Pro) c.5930T>C (p.Leu1977Pro) | gnomAD v4 |
2 | g.71679063T>G | CA347226224 | DYSF | c.3305T>G (p.Leu1102Arg) c.2522T>G (p.Leu841Arg) c.2630T>G (p.Leu877Arg) c.5774T>G (p.Leu1925Arg) c.5891T>G (p.Leu1964Arg) c.5777T>G (p.Leu1926Arg) c.5840T>G (p.Leu1947Arg) c.5888T>G (p.Leu1963Arg) c.5870T>G (p.Leu1957Arg) c.5798T>G (p.Leu1933Arg) c.5825T>G (p.Leu1942Arg) c.5828T>G (p.Leu1943Arg) c.5867T>G (p.Leu1956Arg) c.5837T>G (p.Leu1946Arg) n.2659T>G c.5732T>G (p.Leu1911Arg) c.5795T>G (p.Leu1932Arg) c.5735T>G (p.Leu1912Arg) c.5933T>G (p.Leu1978Arg) c.5930T>G (p.Leu1977Arg) | |
2 | g.71679064G>A | CA426704663 | DYSF | c.3306G>A (p.Leu1102=) c.2523G>A (p.Leu841=) c.2631G>A (p.Leu877=) c.5775G>A (p.Leu1925=) c.5892G>A (p.Leu1964=) c.5778G>A (p.Leu1926=) c.5841G>A (p.Leu1947=) c.5889G>A (p.Leu1963=) c.5871G>A (p.Leu1957=) c.5799G>A (p.Leu1933=) c.5826G>A (p.Leu1942=) c.5829G>A (p.Leu1943=) c.5868G>A (p.Leu1956=) c.5838G>A (p.Leu1946=) n.2660G>A c.5733G>A (p.Leu1911=) c.5796G>A (p.Leu1932=) c.5736G>A (p.Leu1912=) c.5934G>A (p.Leu1978=) c.5931G>A (p.Leu1977=) | ClinVar dbSNP gnomAD v4 |
2 | g.71679064G>C | CA426704662 | DYSF | c.3306G>C (p.Leu1102=) c.2523G>C (p.Leu841=) c.2631G>C (p.Leu877=) c.5775G>C (p.Leu1925=) c.5892G>C (p.Leu1964=) c.5778G>C (p.Leu1926=) c.5841G>C (p.Leu1947=) c.5889G>C (p.Leu1963=) c.5871G>C (p.Leu1957=) c.5799G>C (p.Leu1933=) c.5826G>C (p.Leu1942=) c.5829G>C (p.Leu1943=) c.5868G>C (p.Leu1956=) c.5838G>C (p.Leu1946=) n.2660G>C c.5733G>C (p.Leu1911=) c.5796G>C (p.Leu1932=) c.5736G>C (p.Leu1912=) c.5934G>C (p.Leu1978=) c.5931G>C (p.Leu1977=) | |
2 | g.71679064G= | CA1260156823 | DYSF | c.3306G= (p.Leu1102=) c.2523G= (p.Leu841=) c.2631G= (p.Leu877=) c.5775G= (p.Leu1925=) c.5892G= (p.Leu1964=) c.5778G= (p.Leu1926=) c.5841G= (p.Leu1947=) c.5889G= (p.Leu1963=) c.5871G= (p.Leu1957=) c.5799G= (p.Leu1933=) c.5826G= (p.Leu1942=) c.5829G= (p.Leu1943=) c.5868G= (p.Leu1956=) c.5838G= (p.Leu1946=) n.2660G= c.5733G= (p.Leu1911=) c.5796G= (p.Leu1932=) c.5736G= (p.Leu1912=) c.5934G= (p.Leu1978=) c.5931G= (p.Leu1977=) | |
2 | g.71679064G>T | CA1707543 | DYSF | c.3306G>T (p.Leu1102=) c.2523G>T (p.Leu841=) c.2631G>T (p.Leu877=) c.5775G>T (p.Leu1925=) c.5892G>T (p.Leu1964=) c.5778G>T (p.Leu1926=) c.5841G>T (p.Leu1947=) c.5889G>T (p.Leu1963=) c.5871G>T (p.Leu1957=) c.5799G>T (p.Leu1933=) c.5826G>T (p.Leu1942=) c.5829G>T (p.Leu1943=) c.5868G>T (p.Leu1956=) c.5838G>T (p.Leu1946=) n.2660G>T c.5733G>T (p.Leu1911=) c.5796G>T (p.Leu1932=) c.5736G>T (p.Leu1912=) c.5934G>T (p.Leu1978=) c.5931G>T (p.Leu1977=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71679065C>A | CA347226226 | DYSF | c.3307C>A (p.Gln1103Lys) c.2524C>A (p.Gln842Lys) c.2632C>A (p.Gln878Lys) c.5776C>A (p.Gln1926Lys) c.5893C>A (p.Gln1965Lys) c.5779C>A (p.Gln1927Lys) c.5842C>A (p.Gln1948Lys) c.5890C>A (p.Gln1964Lys) c.5872C>A (p.Gln1958Lys) c.5800C>A (p.Gln1934Lys) c.5827C>A (p.Gln1943Lys) c.5830C>A (p.Gln1944Lys) c.5869C>A (p.Gln1957Lys) c.5839C>A (p.Gln1947Lys) n.2661C>A c.5734C>A (p.Gln1912Lys) c.5797C>A (p.Gln1933Lys) c.5737C>A (p.Gln1913Lys) c.5935C>A (p.Gln1979Lys) c.5932C>A (p.Gln1978Lys) | |
2 | g.71679065C>G | CA347226227 | DYSF | c.3307C>G (p.Gln1103Glu) c.2524C>G (p.Gln842Glu) c.2632C>G (p.Gln878Glu) c.5776C>G (p.Gln1926Glu) c.5893C>G (p.Gln1965Glu) c.5779C>G (p.Gln1927Glu) c.5842C>G (p.Gln1948Glu) c.5890C>G (p.Gln1964Glu) c.5872C>G (p.Gln1958Glu) c.5800C>G (p.Gln1934Glu) c.5827C>G (p.Gln1943Glu) c.5830C>G (p.Gln1944Glu) c.5869C>G (p.Gln1957Glu) c.5839C>G (p.Gln1947Glu) n.2661C>G c.5734C>G (p.Gln1912Glu) c.5797C>G (p.Gln1933Glu) c.5737C>G (p.Gln1913Glu) c.5935C>G (p.Gln1979Glu) c.5932C>G (p.Gln1978Glu) | |
2 | g.71679065C>T | CA347226225 | DYSF | c.3307C>T (p.Gln1103Ter) c.2524C>T (p.Gln842Ter) c.2632C>T (p.Gln878Ter) c.5776C>T (p.Gln1926Ter) c.5893C>T (p.Gln1965Ter) c.5779C>T (p.Gln1927Ter) c.5842C>T (p.Gln1948Ter) c.5890C>T (p.Gln1964Ter) c.5872C>T (p.Gln1958Ter) c.5800C>T (p.Gln1934Ter) c.5827C>T (p.Gln1943Ter) c.5830C>T (p.Gln1944Ter) c.5869C>T (p.Gln1957Ter) c.5839C>T (p.Gln1947Ter) n.2661C>T c.5734C>T (p.Gln1912Ter) c.5797C>T (p.Gln1933Ter) c.5737C>T (p.Gln1913Ter) c.5935C>T (p.Gln1979Ter) c.5932C>T (p.Gln1978Ter) | ClinVar dbSNP |
2 | g.71679066A>C | CA347226228 | DYSF | c.3308A>C (p.Gln1103Pro) c.2525A>C (p.Gln842Pro) c.2633A>C (p.Gln878Pro) c.5777A>C (p.Gln1926Pro) c.5894A>C (p.Gln1965Pro) c.5780A>C (p.Gln1927Pro) c.5843A>C (p.Gln1948Pro) c.5891A>C (p.Gln1964Pro) c.5873A>C (p.Gln1958Pro) c.5801A>C (p.Gln1934Pro) c.5828A>C (p.Gln1943Pro) c.5831A>C (p.Gln1944Pro) c.5870A>C (p.Gln1957Pro) c.5840A>C (p.Gln1947Pro) n.2662A>C c.5735A>C (p.Gln1912Pro) c.5798A>C (p.Gln1933Pro) c.5738A>C (p.Gln1913Pro) c.5936A>C (p.Gln1979Pro) c.5933A>C (p.Gln1978Pro) | |
2 | g.71679066A>G | CA347226229 | DYSF | c.3308A>G (p.Gln1103Arg) c.2525A>G (p.Gln842Arg) c.2633A>G (p.Gln878Arg) c.5777A>G (p.Gln1926Arg) c.5894A>G (p.Gln1965Arg) c.5780A>G (p.Gln1927Arg) c.5843A>G (p.Gln1948Arg) c.5891A>G (p.Gln1964Arg) c.5873A>G (p.Gln1958Arg) c.5801A>G (p.Gln1934Arg) c.5828A>G (p.Gln1943Arg) c.5831A>G (p.Gln1944Arg) c.5870A>G (p.Gln1957Arg) c.5840A>G (p.Gln1947Arg) n.2662A>G c.5735A>G (p.Gln1912Arg) c.5798A>G (p.Gln1933Arg) c.5738A>G (p.Gln1913Arg) c.5936A>G (p.Gln1979Arg) c.5933A>G (p.Gln1978Arg) | |
2 | g.71679066A>T | CA347226230 | DYSF | c.3308A>T (p.Gln1103Leu) c.2525A>T (p.Gln842Leu) c.2633A>T (p.Gln878Leu) c.5777A>T (p.Gln1926Leu) c.5894A>T (p.Gln1965Leu) c.5780A>T (p.Gln1927Leu) c.5843A>T (p.Gln1948Leu) c.5891A>T (p.Gln1964Leu) c.5873A>T (p.Gln1958Leu) c.5801A>T (p.Gln1934Leu) c.5828A>T (p.Gln1943Leu) c.5831A>T (p.Gln1944Leu) c.5870A>T (p.Gln1957Leu) c.5840A>T (p.Gln1947Leu) n.2662A>T c.5735A>T (p.Gln1912Leu) c.5798A>T (p.Gln1933Leu) c.5738A>T (p.Gln1913Leu) c.5936A>T (p.Gln1979Leu) c.5933A>T (p.Gln1978Leu) | |
2 | g.71679067G>A | CA426704664 | DYSF | c.3309G>A (p.Gln1103=) c.2526G>A (p.Gln842=) c.2634G>A (p.Gln878=) c.5778G>A (p.Gln1926=) c.5895G>A (p.Gln1965=) c.5781G>A (p.Gln1927=) c.5844G>A (p.Gln1948=) c.5892G>A (p.Gln1964=) c.5874G>A (p.Gln1958=) c.5802G>A (p.Gln1934=) c.5829G>A (p.Gln1943=) c.5832G>A (p.Gln1944=) c.5871G>A (p.Gln1957=) c.5841G>A (p.Gln1947=) n.2663G>A c.5736G>A (p.Gln1912=) c.5799G>A (p.Gln1933=) c.5739G>A (p.Gln1913=) c.5937G>A (p.Gln1979=) c.5934G>A (p.Gln1978=) | |
2 | g.71679067G>C | CA347226231 | DYSF | c.3309G>C (p.Gln1103His) c.2526G>C (p.Gln842His) c.2634G>C (p.Gln878His) c.5778G>C (p.Gln1926His) c.5895G>C (p.Gln1965His) c.5781G>C (p.Gln1927His) c.5844G>C (p.Gln1948His) c.5892G>C (p.Gln1964His) c.5874G>C (p.Gln1958His) c.5802G>C (p.Gln1934His) c.5829G>C (p.Gln1943His) c.5832G>C (p.Gln1944His) c.5871G>C (p.Gln1957His) c.5841G>C (p.Gln1947His) n.2663G>C c.5736G>C (p.Gln1912His) c.5799G>C (p.Gln1933His) c.5739G>C (p.Gln1913His) c.5937G>C (p.Gln1979His) c.5934G>C (p.Gln1978His) | gnomAD v4 |
2 | g.71679067G>T | CA347226232 | DYSF | c.3309G>T (p.Gln1103His) c.2526G>T (p.Gln842His) c.2634G>T (p.Gln878His) c.5778G>T (p.Gln1926His) c.5895G>T (p.Gln1965His) c.5781G>T (p.Gln1927His) c.5844G>T (p.Gln1948His) c.5892G>T (p.Gln1964His) c.5874G>T (p.Gln1958His) c.5802G>T (p.Gln1934His) c.5829G>T (p.Gln1943His) c.5832G>T (p.Gln1944His) c.5871G>T (p.Gln1957His) c.5841G>T (p.Gln1947His) n.2663G>T c.5736G>T (p.Gln1912His) c.5799G>T (p.Gln1933His) c.5739G>T (p.Gln1913His) c.5937G>T (p.Gln1979His) c.5934G>T (p.Gln1978His) | |
2 | g.71679068C>A | CA347226235 | DYSF | c.3310C>A (p.Leu1104Ile) c.2527C>A (p.Leu843Ile) c.2635C>A (p.Leu879Ile) c.5779C>A (p.Leu1927Ile) c.5896C>A (p.Leu1966Ile) c.5782C>A (p.Leu1928Ile) c.5845C>A (p.Leu1949Ile) c.5893C>A (p.Leu1965Ile) c.5875C>A (p.Leu1959Ile) c.5803C>A (p.Leu1935Ile) c.5830C>A (p.Leu1944Ile) c.5833C>A (p.Leu1945Ile) c.5872C>A (p.Leu1958Ile) c.5842C>A (p.Leu1948Ile) n.2664C>A c.5737C>A (p.Leu1913Ile) c.5800C>A (p.Leu1934Ile) c.5740C>A (p.Leu1914Ile) c.5938C>A (p.Leu1980Ile) c.5935C>A (p.Leu1979Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71679068C= | CA1260156824 | DYSF | c.3310C= (p.Leu1104=) c.2527C= (p.Leu843=) c.2635C= (p.Leu879=) c.5779C= (p.Leu1927=) c.5896C= (p.Leu1966=) c.5782C= (p.Leu1928=) c.5845C= (p.Leu1949=) c.5893C= (p.Leu1965=) c.5875C= (p.Leu1959=) c.5803C= (p.Leu1935=) c.5830C= (p.Leu1944=) c.5833C= (p.Leu1945=) c.5872C= (p.Leu1958=) c.5842C= (p.Leu1948=) n.2664C= c.5737C= (p.Leu1913=) c.5800C= (p.Leu1934=) c.5740C= (p.Leu1914=) c.5938C= (p.Leu1980=) c.5935C= (p.Leu1979=) | |
2 | g.71679068C>G | CA347226233 | DYSF | c.3310C>G (p.Leu1104Val) c.2527C>G (p.Leu843Val) c.2635C>G (p.Leu879Val) c.5779C>G (p.Leu1927Val) c.5896C>G (p.Leu1966Val) c.5782C>G (p.Leu1928Val) c.5845C>G (p.Leu1949Val) c.5893C>G (p.Leu1965Val) c.5875C>G (p.Leu1959Val) c.5803C>G (p.Leu1935Val) c.5830C>G (p.Leu1944Val) c.5833C>G (p.Leu1945Val) c.5872C>G (p.Leu1958Val) c.5842C>G (p.Leu1948Val) n.2664C>G c.5737C>G (p.Leu1913Val) c.5800C>G (p.Leu1934Val) c.5740C>G (p.Leu1914Val) c.5938C>G (p.Leu1980Val) c.5935C>G (p.Leu1979Val) | |
2 | g.71679068C>T | CA347226234 | DYSF | c.3310C>T (p.Leu1104Phe) c.2527C>T (p.Leu843Phe) c.2635C>T (p.Leu879Phe) c.5779C>T (p.Leu1927Phe) c.5896C>T (p.Leu1966Phe) c.5782C>T (p.Leu1928Phe) c.5845C>T (p.Leu1949Phe) c.5893C>T (p.Leu1965Phe) c.5875C>T (p.Leu1959Phe) c.5803C>T (p.Leu1935Phe) c.5830C>T (p.Leu1944Phe) c.5833C>T (p.Leu1945Phe) c.5872C>T (p.Leu1958Phe) c.5842C>T (p.Leu1948Phe) n.2664C>T c.5737C>T (p.Leu1913Phe) c.5800C>T (p.Leu1934Phe) c.5740C>T (p.Leu1914Phe) c.5938C>T (p.Leu1980Phe) c.5935C>T (p.Leu1979Phe) | |
2 | g.71679069T>A | CA347226236 | DYSF | c.3311T>A (p.Leu1104His) c.2528T>A (p.Leu843His) c.2636T>A (p.Leu879His) c.5780T>A (p.Leu1927His) c.5897T>A (p.Leu1966His) c.5783T>A (p.Leu1928His) c.5846T>A (p.Leu1949His) c.5894T>A (p.Leu1965His) c.5876T>A (p.Leu1959His) c.5804T>A (p.Leu1935His) c.5831T>A (p.Leu1944His) c.5834T>A (p.Leu1945His) c.5873T>A (p.Leu1958His) c.5843T>A (p.Leu1948His) n.2665T>A c.5738T>A (p.Leu1913His) c.5801T>A (p.Leu1934His) c.5741T>A (p.Leu1914His) c.5939T>A (p.Leu1980His) c.5936T>A (p.Leu1979His) | |
2 | g.71679069T>C | CA347226237 | DYSF | c.3311T>C (p.Leu1104Pro) c.2528T>C (p.Leu843Pro) c.2636T>C (p.Leu879Pro) c.5780T>C (p.Leu1927Pro) c.5897T>C (p.Leu1966Pro) c.5783T>C (p.Leu1928Pro) c.5846T>C (p.Leu1949Pro) c.5894T>C (p.Leu1965Pro) c.5876T>C (p.Leu1959Pro) c.5804T>C (p.Leu1935Pro) c.5831T>C (p.Leu1944Pro) c.5834T>C (p.Leu1945Pro) c.5873T>C (p.Leu1958Pro) c.5843T>C (p.Leu1948Pro) n.2665T>C c.5738T>C (p.Leu1913Pro) c.5801T>C (p.Leu1934Pro) c.5741T>C (p.Leu1914Pro) c.5939T>C (p.Leu1980Pro) c.5936T>C (p.Leu1979Pro) | |
2 | g.71679069T>G | CA347226238 | DYSF | c.3311T>G (p.Leu1104Arg) c.2528T>G (p.Leu843Arg) c.2636T>G (p.Leu879Arg) c.5780T>G (p.Leu1927Arg) c.5897T>G (p.Leu1966Arg) c.5783T>G (p.Leu1928Arg) c.5846T>G (p.Leu1949Arg) c.5894T>G (p.Leu1965Arg) c.5876T>G (p.Leu1959Arg) c.5804T>G (p.Leu1935Arg) c.5831T>G (p.Leu1944Arg) c.5834T>G (p.Leu1945Arg) c.5873T>G (p.Leu1958Arg) c.5843T>G (p.Leu1948Arg) n.2665T>G c.5738T>G (p.Leu1913Arg) c.5801T>G (p.Leu1934Arg) c.5741T>G (p.Leu1914Arg) c.5939T>G (p.Leu1980Arg) c.5936T>G (p.Leu1979Arg) | |
2 | g.71679071_71679074dup | CA1707544 | DYSF | c.3313_3316dup (p.Leu1106ArgfsTer22) c.2530_2533dup (p.Leu845ArgfsTer22) c.2638_2641dup (p.Leu881ArgfsTer22) c.5782_5785dup (p.Leu1929ArgfsTer22) c.5899_5902dup (p.Leu1968ArgfsTer22) c.5785_5788dup (p.Leu1930ArgfsTer22) c.5848_5851dup (p.Leu1951ArgfsTer22) c.5896_5899dup (p.Leu1967ArgfsTer22) c.5878_5881dup (p.Leu1961ArgfsTer22) c.5806_5809dup (p.Leu1937ArgfsTer22) c.5833_5836dup (p.Leu1946ArgfsTer22) c.5836_5839dup (p.Leu1947ArgfsTer22) c.5875_5878dup (p.Leu1960ArgfsTer22) c.5845_5848dup (p.Leu1950ArgfsTer22) n.2667_2670dup c.5740_5743dup (p.Leu1915ArgfsTer22) c.5803_5806dup (p.Leu1936ArgfsTer22) c.5743_5746dup (p.Leu1916ArgfsTer22) c.5941_5944dup (p.Leu1982ArgfsTer22) c.5938_5941dup (p.Leu1981ArgfsTer22) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679070C>A | CA426704668 | DYSF | c.3312C>A (p.Leu1104=) c.2529C>A (p.Leu843=) c.2637C>A (p.Leu879=) c.5781C>A (p.Leu1927=) c.5898C>A (p.Leu1966=) c.5784C>A (p.Leu1928=) c.5847C>A (p.Leu1949=) c.5895C>A (p.Leu1965=) c.5877C>A (p.Leu1959=) c.5805C>A (p.Leu1935=) c.5832C>A (p.Leu1944=) c.5835C>A (p.Leu1945=) c.5874C>A (p.Leu1958=) c.5844C>A (p.Leu1948=) n.2666C>A c.5739C>A (p.Leu1913=) c.5802C>A (p.Leu1934=) c.5742C>A (p.Leu1914=) c.5940C>A (p.Leu1980=) c.5937C>A (p.Leu1979=) | |
2 | g.71679070C= | CA1260156825 | DYSF | c.3312C= (p.Leu1104=) c.2529C= (p.Leu843=) c.2637C= (p.Leu879=) c.5781C= (p.Leu1927=) c.5898C= (p.Leu1966=) c.5784C= (p.Leu1928=) c.5847C= (p.Leu1949=) c.5895C= (p.Leu1965=) c.5877C= (p.Leu1959=) c.5805C= (p.Leu1935=) c.5832C= (p.Leu1944=) c.5835C= (p.Leu1945=) c.5874C= (p.Leu1958=) c.5844C= (p.Leu1948=) n.2666C= c.5739C= (p.Leu1913=) c.5802C= (p.Leu1934=) c.5742C= (p.Leu1914=) c.5940C= (p.Leu1980=) c.5937C= (p.Leu1979=) | |
2 | g.71679070C>G | CA49774304 | DYSF | c.3312C>G (p.Leu1104=) c.2529C>G (p.Leu843=) c.2637C>G (p.Leu879=) c.5781C>G (p.Leu1927=) c.5898C>G (p.Leu1966=) c.5784C>G (p.Leu1928=) c.5847C>G (p.Leu1949=) c.5895C>G (p.Leu1965=) c.5877C>G (p.Leu1959=) c.5805C>G (p.Leu1935=) c.5832C>G (p.Leu1944=) c.5835C>G (p.Leu1945=) c.5874C>G (p.Leu1958=) c.5844C>G (p.Leu1948=) n.2666C>G c.5739C>G (p.Leu1913=) c.5802C>G (p.Leu1934=) c.5742C>G (p.Leu1914=) c.5940C>G (p.Leu1980=) c.5937C>G (p.Leu1979=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679070C>T | CA1707545 | DYSF | c.3312C>T (p.Leu1104=) c.2529C>T (p.Leu843=) c.2637C>T (p.Leu879=) c.5781C>T (p.Leu1927=) c.5898C>T (p.Leu1966=) c.5784C>T (p.Leu1928=) c.5847C>T (p.Leu1949=) c.5895C>T (p.Leu1965=) c.5877C>T (p.Leu1959=) c.5805C>T (p.Leu1935=) c.5832C>T (p.Leu1944=) c.5835C>T (p.Leu1945=) c.5874C>T (p.Leu1958=) c.5844C>T (p.Leu1948=) n.2666C>T c.5739C>T (p.Leu1913=) c.5802C>T (p.Leu1934=) c.5742C>T (p.Leu1914=) c.5940C>T (p.Leu1980=) c.5937C>T (p.Leu1979=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679071G>A | CA347226241 | DYSF | c.3313G>A (p.Asp1105Asn) c.2530G>A (p.Asp844Asn) c.2638G>A (p.Asp880Asn) c.5782G>A (p.Asp1928Asn) c.5899G>A (p.Asp1967Asn) c.5785G>A (p.Asp1929Asn) c.5848G>A (p.Asp1950Asn) c.5896G>A (p.Asp1966Asn) c.5878G>A (p.Asp1960Asn) c.5806G>A (p.Asp1936Asn) c.5833G>A (p.Asp1945Asn) c.5836G>A (p.Asp1946Asn) c.5875G>A (p.Asp1959Asn) c.5845G>A (p.Asp1949Asn) n.2667G>A c.5740G>A (p.Asp1914Asn) c.5803G>A (p.Asp1935Asn) c.5743G>A (p.Asp1915Asn) c.5941G>A (p.Asp1981Asn) c.5938G>A (p.Asp1980Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679071G>C | CA347226239 | DYSF | c.3313G>C (p.Asp1105His) c.2530G>C (p.Asp844His) c.2638G>C (p.Asp880His) c.5782G>C (p.Asp1928His) c.5899G>C (p.Asp1967His) c.5785G>C (p.Asp1929His) c.5848G>C (p.Asp1950His) c.5896G>C (p.Asp1966His) c.5878G>C (p.Asp1960His) c.5806G>C (p.Asp1936His) c.5833G>C (p.Asp1945His) c.5836G>C (p.Asp1946His) c.5875G>C (p.Asp1959His) c.5845G>C (p.Asp1949His) n.2667G>C c.5740G>C (p.Asp1914His) c.5803G>C (p.Asp1935His) c.5743G>C (p.Asp1915His) c.5941G>C (p.Asp1981His) c.5938G>C (p.Asp1980His) | |
2 | g.71679071G= | CA1260156826 | DYSF | c.3313G= (p.Asp1105=) c.2530G= (p.Asp844=) c.2638G= (p.Asp880=) c.5782G= (p.Asp1928=) c.5899G= (p.Asp1967=) c.5785G= (p.Asp1929=) c.5848G= (p.Asp1950=) c.5896G= (p.Asp1966=) c.5878G= (p.Asp1960=) c.5806G= (p.Asp1936=) c.5833G= (p.Asp1945=) c.5836G= (p.Asp1946=) c.5875G= (p.Asp1959=) c.5845G= (p.Asp1949=) n.2667G= c.5740G= (p.Asp1914=) c.5803G= (p.Asp1935=) c.5743G= (p.Asp1915=) c.5941G= (p.Asp1981=) c.5938G= (p.Asp1980=) | |
2 | g.71679071G>T | CA347226240 | DYSF | c.3313G>T (p.Asp1105Tyr) c.2530G>T (p.Asp844Tyr) c.2638G>T (p.Asp880Tyr) c.5782G>T (p.Asp1928Tyr) c.5899G>T (p.Asp1967Tyr) c.5785G>T (p.Asp1929Tyr) c.5848G>T (p.Asp1950Tyr) c.5896G>T (p.Asp1966Tyr) c.5878G>T (p.Asp1960Tyr) c.5806G>T (p.Asp1936Tyr) c.5833G>T (p.Asp1945Tyr) c.5836G>T (p.Asp1946Tyr) c.5875G>T (p.Asp1959Tyr) c.5845G>T (p.Asp1949Tyr) n.2667G>T c.5740G>T (p.Asp1914Tyr) c.5803G>T (p.Asp1935Tyr) c.5743G>T (p.Asp1915Tyr) c.5941G>T (p.Asp1981Tyr) c.5938G>T (p.Asp1980Tyr) | dbSNP gnomAD v4 |
2 | g.71679072A>C | CA347226242 | DYSF | c.3314A>C (p.Asp1105Ala) c.2531A>C (p.Asp844Ala) c.2639A>C (p.Asp880Ala) c.5783A>C (p.Asp1928Ala) c.5900A>C (p.Asp1967Ala) c.5786A>C (p.Asp1929Ala) c.5849A>C (p.Asp1950Ala) c.5897A>C (p.Asp1966Ala) c.5879A>C (p.Asp1960Ala) c.5807A>C (p.Asp1936Ala) c.5834A>C (p.Asp1945Ala) c.5837A>C (p.Asp1946Ala) c.5876A>C (p.Asp1959Ala) c.5846A>C (p.Asp1949Ala) n.2668A>C c.5741A>C (p.Asp1914Ala) c.5804A>C (p.Asp1935Ala) c.5744A>C (p.Asp1915Ala) c.5942A>C (p.Asp1981Ala) c.5939A>C (p.Asp1980Ala) | |
2 | g.71679072A>G | CA347226243 | DYSF | c.3314A>G (p.Asp1105Gly) c.2531A>G (p.Asp844Gly) c.2639A>G (p.Asp880Gly) c.5783A>G (p.Asp1928Gly) c.5900A>G (p.Asp1967Gly) c.5786A>G (p.Asp1929Gly) c.5849A>G (p.Asp1950Gly) c.5897A>G (p.Asp1966Gly) c.5879A>G (p.Asp1960Gly) c.5807A>G (p.Asp1936Gly) c.5834A>G (p.Asp1945Gly) c.5837A>G (p.Asp1946Gly) c.5876A>G (p.Asp1959Gly) c.5846A>G (p.Asp1949Gly) n.2668A>G c.5741A>G (p.Asp1914Gly) c.5804A>G (p.Asp1935Gly) c.5744A>G (p.Asp1915Gly) c.5942A>G (p.Asp1981Gly) c.5939A>G (p.Asp1980Gly) | |
2 | g.71679072A>T | CA347226244 | DYSF | c.3314A>T (p.Asp1105Val) c.2531A>T (p.Asp844Val) c.2639A>T (p.Asp880Val) c.5783A>T (p.Asp1928Val) c.5900A>T (p.Asp1967Val) c.5786A>T (p.Asp1929Val) c.5849A>T (p.Asp1950Val) c.5897A>T (p.Asp1966Val) c.5879A>T (p.Asp1960Val) c.5807A>T (p.Asp1936Val) c.5834A>T (p.Asp1945Val) c.5837A>T (p.Asp1946Val) c.5876A>T (p.Asp1959Val) c.5846A>T (p.Asp1949Val) n.2668A>T c.5741A>T (p.Asp1914Val) c.5804A>T (p.Asp1935Val) c.5744A>T (p.Asp1915Val) c.5942A>T (p.Asp1981Val) c.5939A>T (p.Asp1980Val) | |
2 | g.71679073T>A | CA347226245 | DYSF | c.3315T>A (p.Asp1105Glu) c.2532T>A (p.Asp844Glu) c.2640T>A (p.Asp880Glu) c.5784T>A (p.Asp1928Glu) c.5901T>A (p.Asp1967Glu) c.5787T>A (p.Asp1929Glu) c.5850T>A (p.Asp1950Glu) c.5898T>A (p.Asp1966Glu) c.5880T>A (p.Asp1960Glu) c.5808T>A (p.Asp1936Glu) c.5835T>A (p.Asp1945Glu) c.5838T>A (p.Asp1946Glu) c.5877T>A (p.Asp1959Glu) c.5847T>A (p.Asp1949Glu) n.2669T>A c.5742T>A (p.Asp1914Glu) c.5805T>A (p.Asp1935Glu) c.5745T>A (p.Asp1915Glu) c.5943T>A (p.Asp1981Glu) c.5940T>A (p.Asp1980Glu) | |
2 | g.71679073T>C | CA426704669 | DYSF | c.3315T>C (p.Asp1105=) c.2532T>C (p.Asp844=) c.2640T>C (p.Asp880=) c.5784T>C (p.Asp1928=) c.5901T>C (p.Asp1967=) c.5787T>C (p.Asp1929=) c.5850T>C (p.Asp1950=) c.5898T>C (p.Asp1966=) c.5880T>C (p.Asp1960=) c.5808T>C (p.Asp1936=) c.5835T>C (p.Asp1945=) c.5838T>C (p.Asp1946=) c.5877T>C (p.Asp1959=) c.5847T>C (p.Asp1949=) n.2669T>C c.5742T>C (p.Asp1914=) c.5805T>C (p.Asp1935=) c.5745T>C (p.Asp1915=) c.5943T>C (p.Asp1981=) c.5940T>C (p.Asp1980=) | |
2 | g.71679073T>G | CA347226246 | DYSF | c.3315T>G (p.Asp1105Glu) c.2532T>G (p.Asp844Glu) c.2640T>G (p.Asp880Glu) c.5784T>G (p.Asp1928Glu) c.5901T>G (p.Asp1967Glu) c.5787T>G (p.Asp1929Glu) c.5850T>G (p.Asp1950Glu) c.5898T>G (p.Asp1966Glu) c.5880T>G (p.Asp1960Glu) c.5808T>G (p.Asp1936Glu) c.5835T>G (p.Asp1945Glu) c.5838T>G (p.Asp1946Glu) c.5877T>G (p.Asp1959Glu) c.5847T>G (p.Asp1949Glu) n.2669T>G c.5742T>G (p.Asp1914Glu) c.5805T>G (p.Asp1935Glu) c.5745T>G (p.Asp1915Glu) c.5943T>G (p.Asp1981Glu) c.5940T>G (p.Asp1980Glu) | |
2 | g.71679074C>A | CA347226247 | DYSF | c.3316C>A (p.Leu1106Ile) c.2533C>A (p.Leu845Ile) c.2641C>A (p.Leu881Ile) c.5785C>A (p.Leu1929Ile) c.5902C>A (p.Leu1968Ile) c.5788C>A (p.Leu1930Ile) c.5851C>A (p.Leu1951Ile) c.5899C>A (p.Leu1967Ile) c.5881C>A (p.Leu1961Ile) c.5809C>A (p.Leu1937Ile) c.5836C>A (p.Leu1946Ile) c.5839C>A (p.Leu1947Ile) c.5878C>A (p.Leu1960Ile) c.5848C>A (p.Leu1950Ile) n.2670C>A c.5743C>A (p.Leu1915Ile) c.5806C>A (p.Leu1936Ile) c.5746C>A (p.Leu1916Ile) c.5944C>A (p.Leu1982Ile) c.5941C>A (p.Leu1981Ile) | COSMIC COSMIC |
2 | g.71679074C>G | CA347226248 | DYSF | c.3316C>G (p.Leu1106Val) c.2533C>G (p.Leu845Val) c.2641C>G (p.Leu881Val) c.5785C>G (p.Leu1929Val) c.5902C>G (p.Leu1968Val) c.5788C>G (p.Leu1930Val) c.5851C>G (p.Leu1951Val) c.5899C>G (p.Leu1967Val) c.5881C>G (p.Leu1961Val) c.5809C>G (p.Leu1937Val) c.5836C>G (p.Leu1946Val) c.5839C>G (p.Leu1947Val) c.5878C>G (p.Leu1960Val) c.5848C>G (p.Leu1950Val) n.2670C>G c.5743C>G (p.Leu1915Val) c.5806C>G (p.Leu1936Val) c.5746C>G (p.Leu1916Val) c.5944C>G (p.Leu1982Val) c.5941C>G (p.Leu1981Val) | |
2 | g.71679074C>T | CA347226249 | DYSF | c.3316C>T (p.Leu1106Phe) c.2533C>T (p.Leu845Phe) c.2641C>T (p.Leu881Phe) c.5785C>T (p.Leu1929Phe) c.5902C>T (p.Leu1968Phe) c.5788C>T (p.Leu1930Phe) c.5851C>T (p.Leu1951Phe) c.5899C>T (p.Leu1967Phe) c.5881C>T (p.Leu1961Phe) c.5809C>T (p.Leu1937Phe) c.5836C>T (p.Leu1946Phe) c.5839C>T (p.Leu1947Phe) c.5878C>T (p.Leu1960Phe) c.5848C>T (p.Leu1950Phe) n.2670C>T c.5743C>T (p.Leu1915Phe) c.5806C>T (p.Leu1936Phe) c.5746C>T (p.Leu1916Phe) c.5944C>T (p.Leu1982Phe) c.5941C>T (p.Leu1981Phe) | |
2 | g.71679075T>A | CA347226250 | DYSF | c.3317T>A (p.Leu1106His) c.2534T>A (p.Leu845His) c.2642T>A (p.Leu881His) c.5786T>A (p.Leu1929His) c.5903T>A (p.Leu1968His) c.5789T>A (p.Leu1930His) c.5852T>A (p.Leu1951His) c.5900T>A (p.Leu1967His) c.5882T>A (p.Leu1961His) c.5810T>A (p.Leu1937His) c.5837T>A (p.Leu1946His) c.5840T>A (p.Leu1947His) c.5879T>A (p.Leu1960His) c.5849T>A (p.Leu1950His) n.2671T>A c.5744T>A (p.Leu1915His) c.5807T>A (p.Leu1936His) c.5747T>A (p.Leu1916His) c.5945T>A (p.Leu1982His) c.5942T>A (p.Leu1981His) | |
2 | g.71679075T>C | CA347226251 | DYSF | c.3317T>C (p.Leu1106Pro) c.2534T>C (p.Leu845Pro) c.2642T>C (p.Leu881Pro) c.5786T>C (p.Leu1929Pro) c.5903T>C (p.Leu1968Pro) c.5789T>C (p.Leu1930Pro) c.5852T>C (p.Leu1951Pro) c.5900T>C (p.Leu1967Pro) c.5882T>C (p.Leu1961Pro) c.5810T>C (p.Leu1937Pro) c.5837T>C (p.Leu1946Pro) c.5840T>C (p.Leu1947Pro) c.5879T>C (p.Leu1960Pro) c.5849T>C (p.Leu1950Pro) n.2671T>C c.5744T>C (p.Leu1915Pro) c.5807T>C (p.Leu1936Pro) c.5747T>C (p.Leu1916Pro) c.5945T>C (p.Leu1982Pro) c.5942T>C (p.Leu1981Pro) | |
2 | g.71679075T>G | CA347226252 | DYSF | c.3317T>G (p.Leu1106Arg) c.2534T>G (p.Leu845Arg) c.2642T>G (p.Leu881Arg) c.5786T>G (p.Leu1929Arg) c.5903T>G (p.Leu1968Arg) c.5789T>G (p.Leu1930Arg) c.5852T>G (p.Leu1951Arg) c.5900T>G (p.Leu1967Arg) c.5882T>G (p.Leu1961Arg) c.5810T>G (p.Leu1937Arg) c.5837T>G (p.Leu1946Arg) c.5840T>G (p.Leu1947Arg) c.5879T>G (p.Leu1960Arg) c.5849T>G (p.Leu1950Arg) n.2671T>G c.5744T>G (p.Leu1915Arg) c.5807T>G (p.Leu1936Arg) c.5747T>G (p.Leu1916Arg) c.5945T>G (p.Leu1982Arg) c.5942T>G (p.Leu1981Arg) | |
2 | g.71679076C>A | CA426704670 | DYSF | c.3318C>A (p.Leu1106=) c.2535C>A (p.Leu845=) c.2643C>A (p.Leu881=) c.5787C>A (p.Leu1929=) c.5904C>A (p.Leu1968=) c.5790C>A (p.Leu1930=) c.5853C>A (p.Leu1951=) c.5901C>A (p.Leu1967=) c.5883C>A (p.Leu1961=) c.5811C>A (p.Leu1937=) c.5838C>A (p.Leu1946=) c.5841C>A (p.Leu1947=) c.5880C>A (p.Leu1960=) c.5850C>A (p.Leu1950=) n.2672C>A c.5745C>A (p.Leu1915=) c.5808C>A (p.Leu1936=) c.5748C>A (p.Leu1916=) c.5946C>A (p.Leu1982=) c.5943C>A (p.Leu1981=) | gnomAD v4 |
2 | g.71679076C>G | CA426704671 | DYSF | c.3318C>G (p.Leu1106=) c.2535C>G (p.Leu845=) c.2643C>G (p.Leu881=) c.5787C>G (p.Leu1929=) c.5904C>G (p.Leu1968=) c.5790C>G (p.Leu1930=) c.5853C>G (p.Leu1951=) c.5901C>G (p.Leu1967=) c.5883C>G (p.Leu1961=) c.5811C>G (p.Leu1937=) c.5838C>G (p.Leu1946=) c.5841C>G (p.Leu1947=) c.5880C>G (p.Leu1960=) c.5850C>G (p.Leu1950=) n.2672C>G c.5745C>G (p.Leu1915=) c.5808C>G (p.Leu1936=) c.5748C>G (p.Leu1916=) c.5946C>G (p.Leu1982=) c.5943C>G (p.Leu1981=) | |
2 | g.71679076C>T | CA426704672 | DYSF | c.3318C>T (p.Leu1106=) c.2535C>T (p.Leu845=) c.2643C>T (p.Leu881=) c.5787C>T (p.Leu1929=) c.5904C>T (p.Leu1968=) c.5790C>T (p.Leu1930=) c.5853C>T (p.Leu1951=) c.5901C>T (p.Leu1967=) c.5883C>T (p.Leu1961=) c.5811C>T (p.Leu1937=) c.5838C>T (p.Leu1946=) c.5841C>T (p.Leu1947=) c.5880C>T (p.Leu1960=) c.5850C>T (p.Leu1950=) n.2672C>T c.5745C>T (p.Leu1915=) c.5808C>T (p.Leu1936=) c.5748C>T (p.Leu1916=) c.5946C>T (p.Leu1982=) c.5943C>T (p.Leu1981=) | gnomAD v4 |
2 | g.71679077A>C | CA347226253 | DYSF | c.3319A>C (p.Asn1107His) c.2536A>C (p.Asn846His) c.2644A>C (p.Asn882His) c.5788A>C (p.Asn1930His) c.5905A>C (p.Asn1969His) c.5791A>C (p.Asn1931His) c.5854A>C (p.Asn1952His) c.5902A>C (p.Asn1968His) c.5884A>C (p.Asn1962His) c.5812A>C (p.Asn1938His) c.5839A>C (p.Asn1947His) c.5842A>C (p.Asn1948His) c.5881A>C (p.Asn1961His) c.5851A>C (p.Asn1951His) n.2673A>C c.5746A>C (p.Asn1916His) c.5809A>C (p.Asn1937His) c.5749A>C (p.Asn1917His) c.5947A>C (p.Asn1983His) c.5944A>C (p.Asn1982His) | |
2 | g.71679077A>G | CA347226254 | DYSF | c.3319A>G (p.Asn1107Asp) c.2536A>G (p.Asn846Asp) c.2644A>G (p.Asn882Asp) c.5788A>G (p.Asn1930Asp) c.5905A>G (p.Asn1969Asp) c.5791A>G (p.Asn1931Asp) c.5854A>G (p.Asn1952Asp) c.5902A>G (p.Asn1968Asp) c.5884A>G (p.Asn1962Asp) c.5812A>G (p.Asn1938Asp) c.5839A>G (p.Asn1947Asp) c.5842A>G (p.Asn1948Asp) c.5881A>G (p.Asn1961Asp) c.5851A>G (p.Asn1951Asp) n.2673A>G c.5746A>G (p.Asn1916Asp) c.5809A>G (p.Asn1937Asp) c.5749A>G (p.Asn1917Asp) c.5947A>G (p.Asn1983Asp) c.5944A>G (p.Asn1982Asp) | |
2 | g.71679077A>T | CA347226255 | DYSF | c.3319A>T (p.Asn1107Tyr) c.2536A>T (p.Asn846Tyr) c.2644A>T (p.Asn882Tyr) c.5788A>T (p.Asn1930Tyr) c.5905A>T (p.Asn1969Tyr) c.5791A>T (p.Asn1931Tyr) c.5854A>T (p.Asn1952Tyr) c.5902A>T (p.Asn1968Tyr) c.5884A>T (p.Asn1962Tyr) c.5812A>T (p.Asn1938Tyr) c.5839A>T (p.Asn1947Tyr) c.5842A>T (p.Asn1948Tyr) c.5881A>T (p.Asn1961Tyr) c.5851A>T (p.Asn1951Tyr) n.2673A>T c.5746A>T (p.Asn1916Tyr) c.5809A>T (p.Asn1937Tyr) c.5749A>T (p.Asn1917Tyr) c.5947A>T (p.Asn1983Tyr) c.5944A>T (p.Asn1982Tyr) | |
2 | g.71679078A= | CA1260156827 | DYSF | c.3320A= (p.Asn1107=) c.2537A= (p.Asn846=) c.2645A= (p.Asn882=) c.5789A= (p.Asn1930=) c.5906A= (p.Asn1969=) c.5792A= (p.Asn1931=) c.5855A= (p.Asn1952=) c.5903A= (p.Asn1968=) c.5885A= (p.Asn1962=) c.5813A= (p.Asn1938=) c.5840A= (p.Asn1947=) c.5843A= (p.Asn1948=) c.5882A= (p.Asn1961=) c.5852A= (p.Asn1951=) n.2674A= c.5747A= (p.Asn1916=) c.5810A= (p.Asn1937=) c.5750A= (p.Asn1917=) c.5948A= (p.Asn1983=) c.5945A= (p.Asn1982=) | |
2 | g.71679078A>C | CA1707546 | DYSF | c.3320A>C (p.Asn1107Thr) c.2537A>C (p.Asn846Thr) c.2645A>C (p.Asn882Thr) c.5789A>C (p.Asn1930Thr) c.5906A>C (p.Asn1969Thr) c.5792A>C (p.Asn1931Thr) c.5855A>C (p.Asn1952Thr) c.5903A>C (p.Asn1968Thr) c.5885A>C (p.Asn1962Thr) c.5813A>C (p.Asn1938Thr) c.5840A>C (p.Asn1947Thr) c.5843A>C (p.Asn1948Thr) c.5882A>C (p.Asn1961Thr) c.5852A>C (p.Asn1951Thr) n.2674A>C c.5747A>C (p.Asn1916Thr) c.5810A>C (p.Asn1937Thr) c.5750A>C (p.Asn1917Thr) c.5948A>C (p.Asn1983Thr) c.5945A>C (p.Asn1982Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679078A>G | CA1707547 | DYSF | c.3320A>G (p.Asn1107Ser) c.2537A>G (p.Asn846Ser) c.2645A>G (p.Asn882Ser) c.5789A>G (p.Asn1930Ser) c.5906A>G (p.Asn1969Ser) c.5792A>G (p.Asn1931Ser) c.5855A>G (p.Asn1952Ser) c.5903A>G (p.Asn1968Ser) c.5885A>G (p.Asn1962Ser) c.5813A>G (p.Asn1938Ser) c.5840A>G (p.Asn1947Ser) c.5843A>G (p.Asn1948Ser) c.5882A>G (p.Asn1961Ser) c.5852A>G (p.Asn1951Ser) n.2674A>G c.5747A>G (p.Asn1916Ser) c.5810A>G (p.Asn1937Ser) c.5750A>G (p.Asn1917Ser) c.5948A>G (p.Asn1983Ser) c.5945A>G (p.Asn1982Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71679078A>T | CA347226256 | DYSF | c.3320A>T (p.Asn1107Ile) c.2537A>T (p.Asn846Ile) c.2645A>T (p.Asn882Ile) c.5789A>T (p.Asn1930Ile) c.5906A>T (p.Asn1969Ile) c.5792A>T (p.Asn1931Ile) c.5855A>T (p.Asn1952Ile) c.5903A>T (p.Asn1968Ile) c.5885A>T (p.Asn1962Ile) c.5813A>T (p.Asn1938Ile) c.5840A>T (p.Asn1947Ile) c.5843A>T (p.Asn1948Ile) c.5882A>T (p.Asn1961Ile) c.5852A>T (p.Asn1951Ile) n.2674A>T c.5747A>T (p.Asn1916Ile) c.5810A>T (p.Asn1937Ile) c.5750A>T (p.Asn1917Ile) c.5948A>T (p.Asn1983Ile) c.5945A>T (p.Asn1982Ile) | |
2 | g.71679079C>A | CA347226257 | DYSF | c.3321C>A (p.Asn1107Lys) c.2538C>A (p.Asn846Lys) c.2646C>A (p.Asn882Lys) c.5790C>A (p.Asn1930Lys) c.5907C>A (p.Asn1969Lys) c.5793C>A (p.Asn1931Lys) c.5856C>A (p.Asn1952Lys) c.5904C>A (p.Asn1968Lys) c.5886C>A (p.Asn1962Lys) c.5814C>A (p.Asn1938Lys) c.5841C>A (p.Asn1947Lys) c.5844C>A (p.Asn1948Lys) c.5883C>A (p.Asn1961Lys) c.5853C>A (p.Asn1951Lys) n.2675C>A c.5748C>A (p.Asn1916Lys) c.5811C>A (p.Asn1937Lys) c.5751C>A (p.Asn1917Lys) c.5949C>A (p.Asn1983Lys) c.5946C>A (p.Asn1982Lys) | |
2 | g.71679079C>G | CA347226258 | DYSF | c.3321C>G (p.Asn1107Lys) c.2538C>G (p.Asn846Lys) c.2646C>G (p.Asn882Lys) c.5790C>G (p.Asn1930Lys) c.5907C>G (p.Asn1969Lys) c.5793C>G (p.Asn1931Lys) c.5856C>G (p.Asn1952Lys) c.5904C>G (p.Asn1968Lys) c.5886C>G (p.Asn1962Lys) c.5814C>G (p.Asn1938Lys) c.5841C>G (p.Asn1947Lys) c.5844C>G (p.Asn1948Lys) c.5883C>G (p.Asn1961Lys) c.5853C>G (p.Asn1951Lys) n.2675C>G c.5748C>G (p.Asn1916Lys) c.5811C>G (p.Asn1937Lys) c.5751C>G (p.Asn1917Lys) c.5949C>G (p.Asn1983Lys) c.5946C>G (p.Asn1982Lys) | |
2 | g.71679079C>T | CA426704674 | DYSF | c.3321C>T (p.Asn1107=) c.2538C>T (p.Asn846=) c.2646C>T (p.Asn882=) c.5790C>T (p.Asn1930=) c.5907C>T (p.Asn1969=) c.5793C>T (p.Asn1931=) c.5856C>T (p.Asn1952=) c.5904C>T (p.Asn1968=) c.5886C>T (p.Asn1962=) c.5814C>T (p.Asn1938=) c.5841C>T (p.Asn1947=) c.5844C>T (p.Asn1948=) c.5883C>T (p.Asn1961=) c.5853C>T (p.Asn1951=) n.2675C>T c.5748C>T (p.Asn1916=) c.5811C>T (p.Asn1937=) c.5751C>T (p.Asn1917=) c.5949C>T (p.Asn1983=) c.5946C>T (p.Asn1982=) | gnomAD v4 |
2 | g.71679080C>A | CA347226259 | DYSF | c.3322C>A (p.Arg1108Ser) c.2539C>A (p.Arg847Ser) c.2647C>A (p.Arg883Ser) c.5791C>A (p.Arg1931Ser) c.5908C>A (p.Arg1970Ser) c.5794C>A (p.Arg1932Ser) c.5857C>A (p.Arg1953Ser) c.5905C>A (p.Arg1969Ser) c.5887C>A (p.Arg1963Ser) c.5815C>A (p.Arg1939Ser) c.5842C>A (p.Arg1948Ser) c.5845C>A (p.Arg1949Ser) c.5884C>A (p.Arg1962Ser) c.5854C>A (p.Arg1952Ser) n.2676C>A c.5749C>A (p.Arg1917Ser) c.5812C>A (p.Arg1938Ser) c.5752C>A (p.Arg1918Ser) c.5950C>A (p.Arg1984Ser) c.5947C>A (p.Arg1983Ser) | |
2 | g.71679080C= | CA1260156828 | DYSF | c.3322C= (p.Arg1108=) c.2539C= (p.Arg847=) c.2647C= (p.Arg883=) c.5791C= (p.Arg1931=) c.5908C= (p.Arg1970=) c.5794C= (p.Arg1932=) c.5857C= (p.Arg1953=) c.5905C= (p.Arg1969=) c.5887C= (p.Arg1963=) c.5815C= (p.Arg1939=) c.5842C= (p.Arg1948=) c.5845C= (p.Arg1949=) c.5884C= (p.Arg1962=) c.5854C= (p.Arg1952=) n.2676C= c.5749C= (p.Arg1917=) c.5812C= (p.Arg1938=) c.5752C= (p.Arg1918=) c.5950C= (p.Arg1984=) c.5947C= (p.Arg1983=) | |
2 | g.71679080C>G | CA347226260 | DYSF | c.3322C>G (p.Arg1108Gly) c.2539C>G (p.Arg847Gly) c.2647C>G (p.Arg883Gly) c.5791C>G (p.Arg1931Gly) c.5908C>G (p.Arg1970Gly) c.5794C>G (p.Arg1932Gly) c.5857C>G (p.Arg1953Gly) c.5905C>G (p.Arg1969Gly) c.5887C>G (p.Arg1963Gly) c.5815C>G (p.Arg1939Gly) c.5842C>G (p.Arg1948Gly) c.5845C>G (p.Arg1949Gly) c.5884C>G (p.Arg1962Gly) c.5854C>G (p.Arg1952Gly) n.2676C>G c.5749C>G (p.Arg1917Gly) c.5812C>G (p.Arg1938Gly) c.5752C>G (p.Arg1918Gly) c.5950C>G (p.Arg1984Gly) c.5947C>G (p.Arg1983Gly) | |
2 | g.71679080C>T | CA1707548 | DYSF | c.3322C>T (p.Arg1108Cys) c.2539C>T (p.Arg847Cys) c.2647C>T (p.Arg883Cys) c.5791C>T (p.Arg1931Cys) c.5908C>T (p.Arg1970Cys) c.5794C>T (p.Arg1932Cys) c.5857C>T (p.Arg1953Cys) c.5905C>T (p.Arg1969Cys) c.5887C>T (p.Arg1963Cys) c.5815C>T (p.Arg1939Cys) c.5842C>T (p.Arg1948Cys) c.5845C>T (p.Arg1949Cys) c.5884C>T (p.Arg1962Cys) c.5854C>T (p.Arg1952Cys) n.2676C>T c.5749C>T (p.Arg1917Cys) c.5812C>T (p.Arg1938Cys) c.5752C>T (p.Arg1918Cys) c.5950C>T (p.Arg1984Cys) c.5947C>T (p.Arg1983Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679081G>A | CA347226261 | DYSF | c.3323G>A (p.Arg1108His) c.2540G>A (p.Arg847His) c.2648G>A (p.Arg883His) c.5792G>A (p.Arg1931His) c.5909G>A (p.Arg1970His) c.5795G>A (p.Arg1932His) c.5858G>A (p.Arg1953His) c.5906G>A (p.Arg1969His) c.5888G>A (p.Arg1963His) c.5816G>A (p.Arg1939His) c.5843G>A (p.Arg1948His) c.5846G>A (p.Arg1949His) c.5885G>A (p.Arg1962His) c.5855G>A (p.Arg1952His) n.2677G>A c.5750G>A (p.Arg1917His) c.5813G>A (p.Arg1938His) c.5753G>A (p.Arg1918His) c.5951G>A (p.Arg1984His) c.5948G>A (p.Arg1983His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71679081G>C | CA347226262 | DYSF | c.3323G>C (p.Arg1108Pro) c.2540G>C (p.Arg847Pro) c.2648G>C (p.Arg883Pro) c.5792G>C (p.Arg1931Pro) c.5909G>C (p.Arg1970Pro) c.5795G>C (p.Arg1932Pro) c.5858G>C (p.Arg1953Pro) c.5906G>C (p.Arg1969Pro) c.5888G>C (p.Arg1963Pro) c.5816G>C (p.Arg1939Pro) c.5843G>C (p.Arg1948Pro) c.5846G>C (p.Arg1949Pro) c.5885G>C (p.Arg1962Pro) c.5855G>C (p.Arg1952Pro) n.2677G>C c.5750G>C (p.Arg1917Pro) c.5813G>C (p.Arg1938Pro) c.5753G>C (p.Arg1918Pro) c.5951G>C (p.Arg1984Pro) c.5948G>C (p.Arg1983Pro) | |
2 | g.71679081G= | CA1260156829 | DYSF | c.3323G= (p.Arg1108=) c.2540G= (p.Arg847=) c.2648G= (p.Arg883=) c.5792G= (p.Arg1931=) c.5909G= (p.Arg1970=) c.5795G= (p.Arg1932=) c.5858G= (p.Arg1953=) c.5906G= (p.Arg1969=) c.5888G= (p.Arg1963=) c.5816G= (p.Arg1939=) c.5843G= (p.Arg1948=) c.5846G= (p.Arg1949=) c.5885G= (p.Arg1962=) c.5855G= (p.Arg1952=) n.2677G= c.5750G= (p.Arg1917=) c.5813G= (p.Arg1938=) c.5753G= (p.Arg1918=) c.5951G= (p.Arg1984=) c.5948G= (p.Arg1983=) | |
2 | g.71679081G>T | CA347226263 | DYSF | c.3323G>T (p.Arg1108Leu) c.2540G>T (p.Arg847Leu) c.2648G>T (p.Arg883Leu) c.5792G>T (p.Arg1931Leu) c.5909G>T (p.Arg1970Leu) c.5795G>T (p.Arg1932Leu) c.5858G>T (p.Arg1953Leu) c.5906G>T (p.Arg1969Leu) c.5888G>T (p.Arg1963Leu) c.5816G>T (p.Arg1939Leu) c.5843G>T (p.Arg1948Leu) c.5846G>T (p.Arg1949Leu) c.5885G>T (p.Arg1962Leu) c.5855G>T (p.Arg1952Leu) n.2677G>T c.5750G>T (p.Arg1917Leu) c.5813G>T (p.Arg1938Leu) c.5753G>T (p.Arg1918Leu) c.5951G>T (p.Arg1984Leu) c.5948G>T (p.Arg1983Leu) | |
2 | g.71679082C>A | CA426704675 | DYSF | c.3324C>A (p.Arg1108=) c.2541C>A (p.Arg847=) c.2649C>A (p.Arg883=) c.5793C>A (p.Arg1931=) c.5910C>A (p.Arg1970=) c.5796C>A (p.Arg1932=) c.5859C>A (p.Arg1953=) c.5907C>A (p.Arg1969=) c.5889C>A (p.Arg1963=) c.5817C>A (p.Arg1939=) c.5844C>A (p.Arg1948=) c.5847C>A (p.Arg1949=) c.5886C>A (p.Arg1962=) c.5856C>A (p.Arg1952=) n.2678C>A c.5751C>A (p.Arg1917=) c.5814C>A (p.Arg1938=) c.5754C>A (p.Arg1918=) c.5952C>A (p.Arg1984=) c.5949C>A (p.Arg1983=) | |
2 | g.71679082C>G | CA426704676 | DYSF | c.3324C>G (p.Arg1108=) c.2541C>G (p.Arg847=) c.2649C>G (p.Arg883=) c.5793C>G (p.Arg1931=) c.5910C>G (p.Arg1970=) c.5796C>G (p.Arg1932=) c.5859C>G (p.Arg1953=) c.5907C>G (p.Arg1969=) c.5889C>G (p.Arg1963=) c.5817C>G (p.Arg1939=) c.5844C>G (p.Arg1948=) c.5847C>G (p.Arg1949=) c.5886C>G (p.Arg1962=) c.5856C>G (p.Arg1952=) n.2678C>G c.5751C>G (p.Arg1917=) c.5814C>G (p.Arg1938=) c.5754C>G (p.Arg1918=) c.5952C>G (p.Arg1984=) c.5949C>G (p.Arg1983=) | |
2 | g.71679082C>T | CA426704677 | DYSF | c.3324C>T (p.Arg1108=) c.2541C>T (p.Arg847=) c.2649C>T (p.Arg883=) c.5793C>T (p.Arg1931=) c.5910C>T (p.Arg1970=) c.5796C>T (p.Arg1932=) c.5859C>T (p.Arg1953=) c.5907C>T (p.Arg1969=) c.5889C>T (p.Arg1963=) c.5817C>T (p.Arg1939=) c.5844C>T (p.Arg1948=) c.5847C>T (p.Arg1949=) c.5886C>T (p.Arg1962=) c.5856C>T (p.Arg1952=) n.2678C>T c.5751C>T (p.Arg1917=) c.5814C>T (p.Arg1938=) c.5754C>T (p.Arg1918=) c.5952C>T (p.Arg1984=) c.5949C>T (p.Arg1983=) | |
2 | g.71679083A= | CA1260156830 | DYSF | c.3325A= (p.Met1109=) c.2542A= (p.Met848=) c.2650A= (p.Met884=) c.5794A= (p.Met1932=) c.5911A= (p.Met1971=) c.5797A= (p.Met1933=) c.5860A= (p.Met1954=) c.5908A= (p.Met1970=) c.5890A= (p.Met1964=) c.5818A= (p.Met1940=) c.5845A= (p.Met1949=) c.5848A= (p.Met1950=) c.5887A= (p.Met1963=) c.5857A= (p.Met1953=) n.2679A= c.5752A= (p.Met1918=) c.5815A= (p.Met1939=) c.5755A= (p.Met1919=) c.5953A= (p.Met1985=) c.5950A= (p.Met1984=) | |
2 | g.71679083A>C | CA347226264 | DYSF | c.3325A>C (p.Met1109Leu) c.2542A>C (p.Met848Leu) c.2650A>C (p.Met884Leu) c.5794A>C (p.Met1932Leu) c.5911A>C (p.Met1971Leu) c.5797A>C (p.Met1933Leu) c.5860A>C (p.Met1954Leu) c.5908A>C (p.Met1970Leu) c.5890A>C (p.Met1964Leu) c.5818A>C (p.Met1940Leu) c.5845A>C (p.Met1949Leu) c.5848A>C (p.Met1950Leu) c.5887A>C (p.Met1963Leu) c.5857A>C (p.Met1953Leu) n.2679A>C c.5752A>C (p.Met1918Leu) c.5815A>C (p.Met1939Leu) c.5755A>C (p.Met1919Leu) c.5953A>C (p.Met1985Leu) c.5950A>C (p.Met1984Leu) | |
2 | g.71679083A>G | CA1707549 | DYSF | c.3325A>G (p.Met1109Val) c.2542A>G (p.Met848Val) c.2650A>G (p.Met884Val) c.5794A>G (p.Met1932Val) c.5911A>G (p.Met1971Val) c.5797A>G (p.Met1933Val) c.5860A>G (p.Met1954Val) c.5908A>G (p.Met1970Val) c.5890A>G (p.Met1964Val) c.5818A>G (p.Met1940Val) c.5845A>G (p.Met1949Val) c.5848A>G (p.Met1950Val) c.5887A>G (p.Met1963Val) c.5857A>G (p.Met1953Val) n.2679A>G c.5752A>G (p.Met1918Val) c.5815A>G (p.Met1939Val) c.5755A>G (p.Met1919Val) c.5953A>G (p.Met1985Val) c.5950A>G (p.Met1984Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71679083A>T | CA347226265 | DYSF | c.3325A>T (p.Met1109Leu) c.2542A>T (p.Met848Leu) c.2650A>T (p.Met884Leu) c.5794A>T (p.Met1932Leu) c.5911A>T (p.Met1971Leu) c.5797A>T (p.Met1933Leu) c.5860A>T (p.Met1954Leu) c.5908A>T (p.Met1970Leu) c.5890A>T (p.Met1964Leu) c.5818A>T (p.Met1940Leu) c.5845A>T (p.Met1949Leu) c.5848A>T (p.Met1950Leu) c.5887A>T (p.Met1963Leu) c.5857A>T (p.Met1953Leu) n.2679A>T c.5752A>T (p.Met1918Leu) c.5815A>T (p.Met1939Leu) c.5755A>T (p.Met1919Leu) c.5953A>T (p.Met1985Leu) c.5950A>T (p.Met1984Leu) | gnomAD v4 |
2 | g.71679084T>A | CA347226266 | DYSF | c.3326T>A (p.Met1109Lys) c.2543T>A (p.Met848Lys) c.2651T>A (p.Met884Lys) c.5795T>A (p.Met1932Lys) c.5912T>A (p.Met1971Lys) c.5798T>A (p.Met1933Lys) c.5861T>A (p.Met1954Lys) c.5909T>A (p.Met1970Lys) c.5891T>A (p.Met1964Lys) c.5819T>A (p.Met1940Lys) c.5846T>A (p.Met1949Lys) c.5849T>A (p.Met1950Lys) c.5888T>A (p.Met1963Lys) c.5858T>A (p.Met1953Lys) n.2680T>A c.5753T>A (p.Met1918Lys) c.5816T>A (p.Met1939Lys) c.5756T>A (p.Met1919Lys) c.5954T>A (p.Met1985Lys) c.5951T>A (p.Met1984Lys) | ClinVar |
2 | g.71679084T>C | CA347226267 | DYSF | c.3326T>C (p.Met1109Thr) c.2543T>C (p.Met848Thr) c.2651T>C (p.Met884Thr) c.5795T>C (p.Met1932Thr) c.5912T>C (p.Met1971Thr) c.5798T>C (p.Met1933Thr) c.5861T>C (p.Met1954Thr) c.5909T>C (p.Met1970Thr) c.5891T>C (p.Met1964Thr) c.5819T>C (p.Met1940Thr) c.5846T>C (p.Met1949Thr) c.5849T>C (p.Met1950Thr) c.5888T>C (p.Met1963Thr) c.5858T>C (p.Met1953Thr) n.2680T>C c.5753T>C (p.Met1918Thr) c.5816T>C (p.Met1939Thr) c.5756T>C (p.Met1919Thr) c.5954T>C (p.Met1985Thr) c.5951T>C (p.Met1984Thr) | |
2 | g.71679084T>G | CA347226268 | DYSF | c.3326T>G (p.Met1109Arg) c.2543T>G (p.Met848Arg) c.2651T>G (p.Met884Arg) c.5795T>G (p.Met1932Arg) c.5912T>G (p.Met1971Arg) c.5798T>G (p.Met1933Arg) c.5861T>G (p.Met1954Arg) c.5909T>G (p.Met1970Arg) c.5891T>G (p.Met1964Arg) c.5819T>G (p.Met1940Arg) c.5846T>G (p.Met1949Arg) c.5849T>G (p.Met1950Arg) c.5888T>G (p.Met1963Arg) c.5858T>G (p.Met1953Arg) n.2680T>G c.5753T>G (p.Met1918Arg) c.5816T>G (p.Met1939Arg) c.5756T>G (p.Met1919Arg) c.5954T>G (p.Met1985Arg) c.5951T>G (p.Met1984Arg) | |
2 | g.71679085G>A | CA347226270 | DYSF | c.3327G>A (p.Met1109Ile) c.2544G>A (p.Met848Ile) c.2652G>A (p.Met884Ile) c.5796G>A (p.Met1932Ile) c.5913G>A (p.Met1971Ile) c.5799G>A (p.Met1933Ile) c.5862G>A (p.Met1954Ile) c.5910G>A (p.Met1970Ile) c.5892G>A (p.Met1964Ile) c.5820G>A (p.Met1940Ile) c.5847G>A (p.Met1949Ile) c.5850G>A (p.Met1950Ile) c.5889G>A (p.Met1963Ile) c.5859G>A (p.Met1953Ile) n.2681G>A c.5754G>A (p.Met1918Ile) c.5817G>A (p.Met1939Ile) c.5757G>A (p.Met1919Ile) c.5955G>A (p.Met1985Ile) c.5952G>A (p.Met1984Ile) | dbSNP gnomAD v4 |
2 | g.71679085G>C | CA347226271 | DYSF | c.3327G>C (p.Met1109Ile) c.2544G>C (p.Met848Ile) c.2652G>C (p.Met884Ile) c.5796G>C (p.Met1932Ile) c.5913G>C (p.Met1971Ile) c.5799G>C (p.Met1933Ile) c.5862G>C (p.Met1954Ile) c.5910G>C (p.Met1970Ile) c.5892G>C (p.Met1964Ile) c.5820G>C (p.Met1940Ile) c.5847G>C (p.Met1949Ile) c.5850G>C (p.Met1950Ile) c.5889G>C (p.Met1963Ile) c.5859G>C (p.Met1953Ile) n.2681G>C c.5754G>C (p.Met1918Ile) c.5817G>C (p.Met1939Ile) c.5757G>C (p.Met1919Ile) c.5955G>C (p.Met1985Ile) c.5952G>C (p.Met1984Ile) | |
2 | g.71679085G= | CA1260156831 | DYSF | c.3327G= (p.Met1109=) c.2544G= (p.Met848=) c.2652G= (p.Met884=) c.5796G= (p.Met1932=) c.5913G= (p.Met1971=) c.5799G= (p.Met1933=) c.5862G= (p.Met1954=) c.5910G= (p.Met1970=) c.5892G= (p.Met1964=) c.5820G= (p.Met1940=) c.5847G= (p.Met1949=) c.5850G= (p.Met1950=) c.5889G= (p.Met1963=) c.5859G= (p.Met1953=) n.2681G= c.5754G= (p.Met1918=) c.5817G= (p.Met1939=) c.5757G= (p.Met1919=) c.5955G= (p.Met1985=) c.5952G= (p.Met1984=) | |
2 | g.71679085G>T | CA347226269 | DYSF | c.3327G>T (p.Met1109Ile) c.2544G>T (p.Met848Ile) c.2652G>T (p.Met884Ile) c.5796G>T (p.Met1932Ile) c.5913G>T (p.Met1971Ile) c.5799G>T (p.Met1933Ile) c.5862G>T (p.Met1954Ile) c.5910G>T (p.Met1970Ile) c.5892G>T (p.Met1964Ile) c.5820G>T (p.Met1940Ile) c.5847G>T (p.Met1949Ile) c.5850G>T (p.Met1950Ile) c.5889G>T (p.Met1963Ile) c.5859G>T (p.Met1953Ile) n.2681G>T c.5754G>T (p.Met1918Ile) c.5817G>T (p.Met1939Ile) c.5757G>T (p.Met1919Ile) c.5955G>T (p.Met1985Ile) c.5952G>T (p.Met1984Ile) | |
2 | g.71679086C>A | CA347226272 | DYSF | c.3328C>A (p.Pro1110Thr) c.2545C>A (p.Pro849Thr) c.2653C>A (p.Pro885Thr) c.5797C>A (p.Pro1933Thr) c.5914C>A (p.Pro1972Thr) c.5800C>A (p.Pro1934Thr) c.5863C>A (p.Pro1955Thr) c.5911C>A (p.Pro1971Thr) c.5893C>A (p.Pro1965Thr) c.5821C>A (p.Pro1941Thr) c.5848C>A (p.Pro1950Thr) c.5851C>A (p.Pro1951Thr) c.5890C>A (p.Pro1964Thr) c.5860C>A (p.Pro1954Thr) n.2682C>A c.5755C>A (p.Pro1919Thr) c.5818C>A (p.Pro1940Thr) c.5758C>A (p.Pro1920Thr) c.5956C>A (p.Pro1986Thr) c.5953C>A (p.Pro1985Thr) | |
2 | g.71679086C= | CA1260156833 | DYSF | c.3328C= (p.Pro1110=) c.2545C= (p.Pro849=) c.2653C= (p.Pro885=) c.5797C= (p.Pro1933=) c.5914C= (p.Pro1972=) c.5800C= (p.Pro1934=) c.5863C= (p.Pro1955=) c.5911C= (p.Pro1971=) c.5893C= (p.Pro1965=) c.5821C= (p.Pro1941=) c.5848C= (p.Pro1950=) c.5851C= (p.Pro1951=) c.5890C= (p.Pro1964=) c.5860C= (p.Pro1954=) n.2682C= c.5755C= (p.Pro1919=) c.5818C= (p.Pro1940=) c.5758C= (p.Pro1920=) c.5956C= (p.Pro1986=) c.5953C= (p.Pro1985=) | |
2 | g.71679086C>G | CA1707550 | DYSF | c.3328C>G (p.Pro1110Ala) c.2545C>G (p.Pro849Ala) c.2653C>G (p.Pro885Ala) c.5797C>G (p.Pro1933Ala) c.5914C>G (p.Pro1972Ala) c.5800C>G (p.Pro1934Ala) c.5863C>G (p.Pro1955Ala) c.5911C>G (p.Pro1971Ala) c.5893C>G (p.Pro1965Ala) c.5821C>G (p.Pro1941Ala) c.5848C>G (p.Pro1950Ala) c.5851C>G (p.Pro1951Ala) c.5890C>G (p.Pro1964Ala) c.5860C>G (p.Pro1954Ala) n.2682C>G c.5755C>G (p.Pro1919Ala) c.5818C>G (p.Pro1940Ala) c.5758C>G (p.Pro1920Ala) c.5956C>G (p.Pro1986Ala) c.5953C>G (p.Pro1985Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71679086C>T | CA347226273 | DYSF | c.3328C>T (p.Pro1110Ser) c.2545C>T (p.Pro849Ser) c.2653C>T (p.Pro885Ser) c.5797C>T (p.Pro1933Ser) c.5914C>T (p.Pro1972Ser) c.5800C>T (p.Pro1934Ser) c.5863C>T (p.Pro1955Ser) c.5911C>T (p.Pro1971Ser) c.5893C>T (p.Pro1965Ser) c.5821C>T (p.Pro1941Ser) c.5848C>T (p.Pro1950Ser) c.5851C>T (p.Pro1951Ser) c.5890C>T (p.Pro1964Ser) c.5860C>T (p.Pro1954Ser) n.2682C>T c.5755C>T (p.Pro1919Ser) c.5818C>T (p.Pro1940Ser) c.5758C>T (p.Pro1920Ser) c.5956C>T (p.Pro1986Ser) c.5953C>T (p.Pro1985Ser) | |
2 | g.71679086_71679095delinsCCCAAGCCAG | CA1260156832 | DYSF | c.3328_3337delinsCCCAAGCCAG (p.Pro1110=) c.2545_2554delinsCCCAAGCCAG (p.Pro849=) c.2653_2662delinsCCCAAGCCAG (p.Pro885=) c.5797_5806delinsCCCAAGCCAG (p.Pro1933=) c.5914_5923delinsCCCAAGCCAG (p.Pro1972=) c.5800_5809delinsCCCAAGCCAG (p.Pro1934=) c.5863_5872delinsCCCAAGCCAG (p.Pro1955=) c.5911_5920delinsCCCAAGCCAG (p.Pro1971=) c.5893_5902delinsCCCAAGCCAG (p.Pro1965=) c.5821_5830delinsCCCAAGCCAG (p.Pro1941=) c.5848_5857delinsCCCAAGCCAG (p.Pro1950=) c.5851_5860delinsCCCAAGCCAG (p.Pro1951=) c.5890_5899delinsCCCAAGCCAG (p.Pro1964=) c.5860_5869delinsCCCAAGCCAG (p.Pro1954=) n.2682_2691delinsCCCAAGCCAG c.5755_5764delinsCCCAAGCCAG (p.Pro1919=) c.5818_5827delinsCCCAAGCCAG (p.Pro1940=) c.5758_5767delinsCCCAAGCCAG (p.Pro1920=) c.5956_5965delinsCCCAAGCCAG (p.Pro1986=) c.5953_5962delinsCCCAAGCCAG (p.Pro1985=) | |
2 | g.71679087C>A | CA347226274 | DYSF | c.3329C>A (p.Pro1110His) c.2546C>A (p.Pro849His) c.2654C>A (p.Pro885His) c.5798C>A (p.Pro1933His) c.5915C>A (p.Pro1972His) c.5801C>A (p.Pro1934His) c.5864C>A (p.Pro1955His) c.5912C>A (p.Pro1971His) c.5894C>A (p.Pro1965His) c.5822C>A (p.Pro1941His) c.5849C>A (p.Pro1950His) c.5852C>A (p.Pro1951His) c.5891C>A (p.Pro1964His) c.5861C>A (p.Pro1954His) n.2683C>A c.5756C>A (p.Pro1919His) c.5819C>A (p.Pro1940His) c.5759C>A (p.Pro1920His) c.5957C>A (p.Pro1986His) c.5954C>A (p.Pro1985His) | |
2 | g.71679087C= | CA1260156835 | DYSF | c.3329C= (p.Pro1110=) c.2546C= (p.Pro849=) c.2654C= (p.Pro885=) c.5798C= (p.Pro1933=) c.5915C= (p.Pro1972=) c.5801C= (p.Pro1934=) c.5864C= (p.Pro1955=) c.5912C= (p.Pro1971=) c.5894C= (p.Pro1965=) c.5822C= (p.Pro1941=) c.5849C= (p.Pro1950=) c.5852C= (p.Pro1951=) c.5891C= (p.Pro1964=) c.5861C= (p.Pro1954=) n.2683C= c.5756C= (p.Pro1919=) c.5819C= (p.Pro1940=) c.5759C= (p.Pro1920=) c.5957C= (p.Pro1986=) c.5954C= (p.Pro1985=) | |
2 | g.71679087C>G | CA347226275 | DYSF | c.3329C>G (p.Pro1110Arg) c.2546C>G (p.Pro849Arg) c.2654C>G (p.Pro885Arg) c.5798C>G (p.Pro1933Arg) c.5915C>G (p.Pro1972Arg) c.5801C>G (p.Pro1934Arg) c.5864C>G (p.Pro1955Arg) c.5912C>G (p.Pro1971Arg) c.5894C>G (p.Pro1965Arg) c.5822C>G (p.Pro1941Arg) c.5849C>G (p.Pro1950Arg) c.5852C>G (p.Pro1951Arg) c.5891C>G (p.Pro1964Arg) c.5861C>G (p.Pro1954Arg) n.2683C>G c.5756C>G (p.Pro1919Arg) c.5819C>G (p.Pro1940Arg) c.5759C>G (p.Pro1920Arg) c.5957C>G (p.Pro1986Arg) c.5954C>G (p.Pro1985Arg) | dbSNP |
2 | g.71679087C>T | CA49774318 | DYSF | c.3329C>T (p.Pro1110Leu) c.2546C>T (p.Pro849Leu) c.2654C>T (p.Pro885Leu) c.5798C>T (p.Pro1933Leu) c.5915C>T (p.Pro1972Leu) c.5801C>T (p.Pro1934Leu) c.5864C>T (p.Pro1955Leu) c.5912C>T (p.Pro1971Leu) c.5894C>T (p.Pro1965Leu) c.5822C>T (p.Pro1941Leu) c.5849C>T (p.Pro1950Leu) c.5852C>T (p.Pro1951Leu) c.5891C>T (p.Pro1964Leu) c.5861C>T (p.Pro1954Leu) n.2683C>T c.5756C>T (p.Pro1919Leu) c.5819C>T (p.Pro1940Leu) c.5759C>T (p.Pro1920Leu) c.5957C>T (p.Pro1986Leu) c.5954C>T (p.Pro1985Leu) | dbSNP |
2 | g.71679092_71679100del | CA1260156834 | DYSF | c.3334_3342del (p.Pro1112_Lys1114del) c.2551_2559del (p.Pro851_Lys853del) c.2659_2667del (p.Pro887_Lys889del) c.5803_5811del (p.Pro1935_Lys1937del) c.5920_5928del (p.Pro1974_Lys1976del) c.5806_5814del (p.Pro1936_Lys1938del) c.5869_5877del (p.Pro1957_Lys1959del) c.5917_5925del (p.Pro1973_Lys1975del) c.5899_5907del (p.Pro1967_Lys1969del) c.5827_5835del (p.Pro1943_Lys1945del) c.5854_5862del (p.Pro1952_Lys1954del) c.5857_5865del (p.Pro1953_Lys1955del) c.5896_5904del (p.Pro1966_Lys1968del) c.5866_5874del (p.Pro1956_Lys1958del) n.2688_2696del c.5761_5769del (p.Pro1921_Lys1923del) c.5824_5832del (p.Pro1942_Lys1944del) c.5764_5772del (p.Pro1922_Lys1924del) c.5962_5970del (p.Pro1988_Lys1990del) c.5959_5967del (p.Pro1987_Lys1989del) | dbSNP gnomAD v4 |
2 | g.71679088C>A | CA426704679 | DYSF | c.3330C>A (p.Pro1110=) c.2547C>A (p.Pro849=) c.2655C>A (p.Pro885=) c.5799C>A (p.Pro1933=) c.5916C>A (p.Pro1972=) c.5802C>A (p.Pro1934=) c.5865C>A (p.Pro1955=) c.5913C>A (p.Pro1971=) c.5895C>A (p.Pro1965=) c.5823C>A (p.Pro1941=) c.5850C>A (p.Pro1950=) c.5853C>A (p.Pro1951=) c.5892C>A (p.Pro1964=) c.5862C>A (p.Pro1954=) n.2684C>A c.5757C>A (p.Pro1919=) c.5820C>A (p.Pro1940=) c.5760C>A (p.Pro1920=) c.5958C>A (p.Pro1986=) c.5955C>A (p.Pro1985=) | |
2 | g.71679088C= | CA1260156836 | DYSF | c.3330C= (p.Pro1110=) c.2547C= (p.Pro849=) c.2655C= (p.Pro885=) c.5799C= (p.Pro1933=) c.5916C= (p.Pro1972=) c.5802C= (p.Pro1934=) c.5865C= (p.Pro1955=) c.5913C= (p.Pro1971=) c.5895C= (p.Pro1965=) c.5823C= (p.Pro1941=) c.5850C= (p.Pro1950=) c.5853C= (p.Pro1951=) c.5892C= (p.Pro1964=) c.5862C= (p.Pro1954=) n.2684C= c.5757C= (p.Pro1919=) c.5820C= (p.Pro1940=) c.5760C= (p.Pro1920=) c.5958C= (p.Pro1986=) c.5955C= (p.Pro1985=) | |
2 | g.71679088C>G | CA1707551 | DYSF | c.3330C>G (p.Pro1110=) c.2547C>G (p.Pro849=) c.2655C>G (p.Pro885=) c.5799C>G (p.Pro1933=) c.5916C>G (p.Pro1972=) c.5802C>G (p.Pro1934=) c.5865C>G (p.Pro1955=) c.5913C>G (p.Pro1971=) c.5895C>G (p.Pro1965=) c.5823C>G (p.Pro1941=) c.5850C>G (p.Pro1950=) c.5853C>G (p.Pro1951=) c.5892C>G (p.Pro1964=) c.5862C>G (p.Pro1954=) n.2684C>G c.5757C>G (p.Pro1919=) c.5820C>G (p.Pro1940=) c.5760C>G (p.Pro1920=) c.5958C>G (p.Pro1986=) c.5955C>G (p.Pro1985=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679088C>T | CA426704681 | DYSF | c.3330C>T (p.Pro1110=) c.2547C>T (p.Pro849=) c.2655C>T (p.Pro885=) c.5799C>T (p.Pro1933=) c.5916C>T (p.Pro1972=) c.5802C>T (p.Pro1934=) c.5865C>T (p.Pro1955=) c.5913C>T (p.Pro1971=) c.5895C>T (p.Pro1965=) c.5823C>T (p.Pro1941=) c.5850C>T (p.Pro1950=) c.5853C>T (p.Pro1951=) c.5892C>T (p.Pro1964=) c.5862C>T (p.Pro1954=) n.2684C>T c.5757C>T (p.Pro1919=) c.5820C>T (p.Pro1940=) c.5760C>T (p.Pro1920=) c.5958C>T (p.Pro1986=) c.5955C>T (p.Pro1985=) | |
2 | g.71679089A= | CA1260156837 | DYSF | c.3331A= (p.Lys1111=) c.2548A= (p.Lys850=) c.2656A= (p.Lys886=) c.5800A= (p.Lys1934=) c.5917A= (p.Lys1973=) c.5803A= (p.Lys1935=) c.5866A= (p.Lys1956=) c.5914A= (p.Lys1972=) c.5896A= (p.Lys1966=) c.5824A= (p.Lys1942=) c.5851A= (p.Lys1951=) c.5854A= (p.Lys1952=) c.5893A= (p.Lys1965=) c.5863A= (p.Lys1955=) n.2685A= c.5758A= (p.Lys1920=) c.5821A= (p.Lys1941=) c.5761A= (p.Lys1921=) c.5959A= (p.Lys1987=) c.5956A= (p.Lys1986=) | |
2 | g.71679089A>C | CA347226276 | DYSF | c.3331A>C (p.Lys1111Gln) c.2548A>C (p.Lys850Gln) c.2656A>C (p.Lys886Gln) c.5800A>C (p.Lys1934Gln) c.5917A>C (p.Lys1973Gln) c.5803A>C (p.Lys1935Gln) c.5866A>C (p.Lys1956Gln) c.5914A>C (p.Lys1972Gln) c.5896A>C (p.Lys1966Gln) c.5824A>C (p.Lys1942Gln) c.5851A>C (p.Lys1951Gln) c.5854A>C (p.Lys1952Gln) c.5893A>C (p.Lys1965Gln) c.5863A>C (p.Lys1955Gln) n.2685A>C c.5758A>C (p.Lys1920Gln) c.5821A>C (p.Lys1941Gln) c.5761A>C (p.Lys1921Gln) c.5959A>C (p.Lys1987Gln) c.5956A>C (p.Lys1986Gln) | |
2 | g.71679089A>G | CA347226277 | DYSF | c.3331A>G (p.Lys1111Glu) c.2548A>G (p.Lys850Glu) c.2656A>G (p.Lys886Glu) c.5800A>G (p.Lys1934Glu) c.5917A>G (p.Lys1973Glu) c.5803A>G (p.Lys1935Glu) c.5866A>G (p.Lys1956Glu) c.5914A>G (p.Lys1972Glu) c.5896A>G (p.Lys1966Glu) c.5824A>G (p.Lys1942Glu) c.5851A>G (p.Lys1951Glu) c.5854A>G (p.Lys1952Glu) c.5893A>G (p.Lys1965Glu) c.5863A>G (p.Lys1955Glu) n.2685A>G c.5758A>G (p.Lys1920Glu) c.5821A>G (p.Lys1941Glu) c.5761A>G (p.Lys1921Glu) c.5959A>G (p.Lys1987Glu) c.5956A>G (p.Lys1986Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71679089A>T | CA347226278 | DYSF | c.3331A>T (p.Lys1111Ter) c.2548A>T (p.Lys850Ter) c.2656A>T (p.Lys886Ter) c.5800A>T (p.Lys1934Ter) c.5917A>T (p.Lys1973Ter) c.5803A>T (p.Lys1935Ter) c.5866A>T (p.Lys1956Ter) c.5914A>T (p.Lys1972Ter) c.5896A>T (p.Lys1966Ter) c.5824A>T (p.Lys1942Ter) c.5851A>T (p.Lys1951Ter) c.5854A>T (p.Lys1952Ter) c.5893A>T (p.Lys1965Ter) c.5863A>T (p.Lys1955Ter) n.2685A>T c.5758A>T (p.Lys1920Ter) c.5821A>T (p.Lys1941Ter) c.5761A>T (p.Lys1921Ter) c.5959A>T (p.Lys1987Ter) c.5956A>T (p.Lys1986Ter) | dbSNP |
2 | g.71679090A>C | CA347226279 | DYSF | c.3332A>C (p.Lys1111Thr) c.2549A>C (p.Lys850Thr) c.2657A>C (p.Lys886Thr) c.5801A>C (p.Lys1934Thr) c.5918A>C (p.Lys1973Thr) c.5804A>C (p.Lys1935Thr) c.5867A>C (p.Lys1956Thr) c.5915A>C (p.Lys1972Thr) c.5897A>C (p.Lys1966Thr) c.5825A>C (p.Lys1942Thr) c.5852A>C (p.Lys1951Thr) c.5855A>C (p.Lys1952Thr) c.5894A>C (p.Lys1965Thr) c.5864A>C (p.Lys1955Thr) n.2686A>C c.5759A>C (p.Lys1920Thr) c.5822A>C (p.Lys1941Thr) c.5762A>C (p.Lys1921Thr) c.5960A>C (p.Lys1987Thr) c.5957A>C (p.Lys1986Thr) | |
2 | g.71679090A>G | CA347226280 | DYSF | c.3332A>G (p.Lys1111Arg) c.2549A>G (p.Lys850Arg) c.2657A>G (p.Lys886Arg) c.5801A>G (p.Lys1934Arg) c.5918A>G (p.Lys1973Arg) c.5804A>G (p.Lys1935Arg) c.5867A>G (p.Lys1956Arg) c.5915A>G (p.Lys1972Arg) c.5897A>G (p.Lys1966Arg) c.5825A>G (p.Lys1942Arg) c.5852A>G (p.Lys1951Arg) c.5855A>G (p.Lys1952Arg) c.5894A>G (p.Lys1965Arg) c.5864A>G (p.Lys1955Arg) n.2686A>G c.5759A>G (p.Lys1920Arg) c.5822A>G (p.Lys1941Arg) c.5762A>G (p.Lys1921Arg) c.5960A>G (p.Lys1987Arg) c.5957A>G (p.Lys1986Arg) | |
2 | g.71679090A>T | CA347226281 | DYSF | c.3332A>T (p.Lys1111Met) c.2549A>T (p.Lys850Met) c.2657A>T (p.Lys886Met) c.5801A>T (p.Lys1934Met) c.5918A>T (p.Lys1973Met) c.5804A>T (p.Lys1935Met) c.5867A>T (p.Lys1956Met) c.5915A>T (p.Lys1972Met) c.5897A>T (p.Lys1966Met) c.5825A>T (p.Lys1942Met) c.5852A>T (p.Lys1951Met) c.5855A>T (p.Lys1952Met) c.5894A>T (p.Lys1965Met) c.5864A>T (p.Lys1955Met) n.2686A>T c.5759A>T (p.Lys1920Met) c.5822A>T (p.Lys1941Met) c.5762A>T (p.Lys1921Met) c.5960A>T (p.Lys1987Met) c.5957A>T (p.Lys1986Met) | |
2 | g.71679091G>A | CA426704682 | DYSF | c.3333G>A (p.Lys1111=) c.2550G>A (p.Lys850=) c.2658G>A (p.Lys886=) c.5802G>A (p.Lys1934=) c.5919G>A (p.Lys1973=) c.5805G>A (p.Lys1935=) c.5868G>A (p.Lys1956=) c.5916G>A (p.Lys1972=) c.5898G>A (p.Lys1966=) c.5826G>A (p.Lys1942=) c.5853G>A (p.Lys1951=) c.5856G>A (p.Lys1952=) c.5895G>A (p.Lys1965=) c.5865G>A (p.Lys1955=) n.2687G>A c.5760G>A (p.Lys1920=) c.5823G>A (p.Lys1941=) c.5763G>A (p.Lys1921=) c.5961G>A (p.Lys1987=) c.5958G>A (p.Lys1986=) | |
2 | g.71679091G>C | CA49774324 | DYSF | c.3333G>C (p.Lys1111Asn) c.2550G>C (p.Lys850Asn) c.2658G>C (p.Lys886Asn) c.5802G>C (p.Lys1934Asn) c.5919G>C (p.Lys1973Asn) c.5805G>C (p.Lys1935Asn) c.5868G>C (p.Lys1956Asn) c.5916G>C (p.Lys1972Asn) c.5898G>C (p.Lys1966Asn) c.5826G>C (p.Lys1942Asn) c.5853G>C (p.Lys1951Asn) c.5856G>C (p.Lys1952Asn) c.5895G>C (p.Lys1965Asn) c.5865G>C (p.Lys1955Asn) n.2687G>C c.5760G>C (p.Lys1920Asn) c.5823G>C (p.Lys1941Asn) c.5763G>C (p.Lys1921Asn) c.5961G>C (p.Lys1987Asn) c.5958G>C (p.Lys1986Asn) | dbSNP |
2 | g.71679091G= | CA1260156838 | DYSF | c.3333G= (p.Lys1111=) c.2550G= (p.Lys850=) c.2658G= (p.Lys886=) c.5802G= (p.Lys1934=) c.5919G= (p.Lys1973=) c.5805G= (p.Lys1935=) c.5868G= (p.Lys1956=) c.5916G= (p.Lys1972=) c.5898G= (p.Lys1966=) c.5826G= (p.Lys1942=) c.5853G= (p.Lys1951=) c.5856G= (p.Lys1952=) c.5895G= (p.Lys1965=) c.5865G= (p.Lys1955=) n.2687G= c.5760G= (p.Lys1920=) c.5823G= (p.Lys1941=) c.5763G= (p.Lys1921=) c.5961G= (p.Lys1987=) c.5958G= (p.Lys1986=) | |
2 | g.71679091G>T | CA347226282 | DYSF | c.3333G>T (p.Lys1111Asn) c.2550G>T (p.Lys850Asn) c.2658G>T (p.Lys886Asn) c.5802G>T (p.Lys1934Asn) c.5919G>T (p.Lys1973Asn) c.5805G>T (p.Lys1935Asn) c.5868G>T (p.Lys1956Asn) c.5916G>T (p.Lys1972Asn) c.5898G>T (p.Lys1966Asn) c.5826G>T (p.Lys1942Asn) c.5853G>T (p.Lys1951Asn) c.5856G>T (p.Lys1952Asn) c.5895G>T (p.Lys1965Asn) c.5865G>T (p.Lys1955Asn) n.2687G>T c.5760G>T (p.Lys1920Asn) c.5823G>T (p.Lys1941Asn) c.5763G>T (p.Lys1921Asn) c.5961G>T (p.Lys1987Asn) c.5958G>T (p.Lys1986Asn) | |
2 | g.71679092C>A | CA347226283 | DYSF | c.3334C>A (p.Pro1112Thr) c.2551C>A (p.Pro851Thr) c.2659C>A (p.Pro887Thr) c.5803C>A (p.Pro1935Thr) c.5920C>A (p.Pro1974Thr) c.5806C>A (p.Pro1936Thr) c.5869C>A (p.Pro1957Thr) c.5917C>A (p.Pro1973Thr) c.5899C>A (p.Pro1967Thr) c.5827C>A (p.Pro1943Thr) c.5854C>A (p.Pro1952Thr) c.5857C>A (p.Pro1953Thr) c.5896C>A (p.Pro1966Thr) c.5866C>A (p.Pro1956Thr) n.2688C>A c.5761C>A (p.Pro1921Thr) c.5824C>A (p.Pro1942Thr) c.5764C>A (p.Pro1922Thr) c.5962C>A (p.Pro1988Thr) c.5959C>A (p.Pro1987Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.71679092C= | CA1260156839 | DYSF | c.3334C= (p.Pro1112=) c.2551C= (p.Pro851=) c.2659C= (p.Pro887=) c.5803C= (p.Pro1935=) c.5920C= (p.Pro1974=) c.5806C= (p.Pro1936=) c.5869C= (p.Pro1957=) c.5917C= (p.Pro1973=) c.5899C= (p.Pro1967=) c.5827C= (p.Pro1943=) c.5854C= (p.Pro1952=) c.5857C= (p.Pro1953=) c.5896C= (p.Pro1966=) c.5866C= (p.Pro1956=) n.2688C= c.5761C= (p.Pro1921=) c.5824C= (p.Pro1942=) c.5764C= (p.Pro1922=) c.5962C= (p.Pro1988=) c.5959C= (p.Pro1987=) | |
2 | g.71679092C>G | CA347226284 | DYSF | c.3334C>G (p.Pro1112Ala) c.2551C>G (p.Pro851Ala) c.2659C>G (p.Pro887Ala) c.5803C>G (p.Pro1935Ala) c.5920C>G (p.Pro1974Ala) c.5806C>G (p.Pro1936Ala) c.5869C>G (p.Pro1957Ala) c.5917C>G (p.Pro1973Ala) c.5899C>G (p.Pro1967Ala) c.5827C>G (p.Pro1943Ala) c.5854C>G (p.Pro1952Ala) c.5857C>G (p.Pro1953Ala) c.5896C>G (p.Pro1966Ala) c.5866C>G (p.Pro1956Ala) n.2688C>G c.5761C>G (p.Pro1921Ala) c.5824C>G (p.Pro1942Ala) c.5764C>G (p.Pro1922Ala) c.5962C>G (p.Pro1988Ala) c.5959C>G (p.Pro1987Ala) | |
2 | g.71679092C>T | CA347226285 | DYSF | c.3334C>T (p.Pro1112Ser) c.2551C>T (p.Pro851Ser) c.2659C>T (p.Pro887Ser) c.5803C>T (p.Pro1935Ser) c.5920C>T (p.Pro1974Ser) c.5806C>T (p.Pro1936Ser) c.5869C>T (p.Pro1957Ser) c.5917C>T (p.Pro1973Ser) c.5899C>T (p.Pro1967Ser) c.5827C>T (p.Pro1943Ser) c.5854C>T (p.Pro1952Ser) c.5857C>T (p.Pro1953Ser) c.5896C>T (p.Pro1966Ser) c.5866C>T (p.Pro1956Ser) n.2688C>T c.5761C>T (p.Pro1921Ser) c.5824C>T (p.Pro1942Ser) c.5764C>T (p.Pro1922Ser) c.5962C>T (p.Pro1988Ser) c.5959C>T (p.Pro1987Ser) | gnomAD v4 |
2 | g.71679093C>A | CA347226286 | DYSF | c.3335C>A (p.Pro1112Gln) c.2552C>A (p.Pro851Gln) c.2660C>A (p.Pro887Gln) c.5804C>A (p.Pro1935Gln) c.5921C>A (p.Pro1974Gln) c.5807C>A (p.Pro1936Gln) c.5870C>A (p.Pro1957Gln) c.5918C>A (p.Pro1973Gln) c.5900C>A (p.Pro1967Gln) c.5828C>A (p.Pro1943Gln) c.5855C>A (p.Pro1952Gln) c.5858C>A (p.Pro1953Gln) c.5897C>A (p.Pro1966Gln) c.5867C>A (p.Pro1956Gln) n.2689C>A c.5762C>A (p.Pro1921Gln) c.5825C>A (p.Pro1942Gln) c.5765C>A (p.Pro1922Gln) c.5963C>A (p.Pro1988Gln) c.5960C>A (p.Pro1987Gln) | |
2 | g.71679093C= | CA1260156840 | DYSF | c.3335C= (p.Pro1112=) c.2552C= (p.Pro851=) c.2660C= (p.Pro887=) c.5804C= (p.Pro1935=) c.5921C= (p.Pro1974=) c.5807C= (p.Pro1936=) c.5870C= (p.Pro1957=) c.5918C= (p.Pro1973=) c.5900C= (p.Pro1967=) c.5828C= (p.Pro1943=) c.5855C= (p.Pro1952=) c.5858C= (p.Pro1953=) c.5897C= (p.Pro1966=) c.5867C= (p.Pro1956=) n.2689C= c.5762C= (p.Pro1921=) c.5825C= (p.Pro1942=) c.5765C= (p.Pro1922=) c.5963C= (p.Pro1988=) c.5960C= (p.Pro1987=) | |
2 | g.71679093C>G | CA347226287 | DYSF | c.3335C>G (p.Pro1112Arg) c.2552C>G (p.Pro851Arg) c.2660C>G (p.Pro887Arg) c.5804C>G (p.Pro1935Arg) c.5921C>G (p.Pro1974Arg) c.5807C>G (p.Pro1936Arg) c.5870C>G (p.Pro1957Arg) c.5918C>G (p.Pro1973Arg) c.5900C>G (p.Pro1967Arg) c.5828C>G (p.Pro1943Arg) c.5855C>G (p.Pro1952Arg) c.5858C>G (p.Pro1953Arg) c.5897C>G (p.Pro1966Arg) c.5867C>G (p.Pro1956Arg) n.2689C>G c.5762C>G (p.Pro1921Arg) c.5825C>G (p.Pro1942Arg) c.5765C>G (p.Pro1922Arg) c.5963C>G (p.Pro1988Arg) c.5960C>G (p.Pro1987Arg) | |
2 | g.71679093C>T | CA347226288 | DYSF | c.3335C>T (p.Pro1112Leu) c.2552C>T (p.Pro851Leu) c.2660C>T (p.Pro887Leu) c.5804C>T (p.Pro1935Leu) c.5921C>T (p.Pro1974Leu) c.5807C>T (p.Pro1936Leu) c.5870C>T (p.Pro1957Leu) c.5918C>T (p.Pro1973Leu) c.5900C>T (p.Pro1967Leu) c.5828C>T (p.Pro1943Leu) c.5855C>T (p.Pro1952Leu) c.5858C>T (p.Pro1953Leu) c.5897C>T (p.Pro1966Leu) c.5867C>T (p.Pro1956Leu) n.2689C>T c.5762C>T (p.Pro1921Leu) c.5825C>T (p.Pro1942Leu) c.5765C>T (p.Pro1922Leu) c.5963C>T (p.Pro1988Leu) c.5960C>T (p.Pro1987Leu) | ClinVar dbSNP |
2 | g.71679102_71679110dup | CA2580611655 | DYSF | c.3344_3352dup (p.Lys1117_Lys1118insThrAlaLys) c.2561_2569dup (p.Lys856_Lys857insThrAlaLys) c.2669_2677dup (p.Lys892_Lys893insThrAlaLys) c.5813_5821dup (p.Lys1940_Lys1941insThrAlaLys) c.5930_5938dup (p.Lys1979_Lys1980insThrAlaLys) c.5816_5824dup (p.Lys1941_Lys1942insThrAlaLys) c.5879_5887dup (p.Lys1962_Lys1963insThrAlaLys) c.5927_5935dup (p.Lys1978_Lys1979insThrAlaLys) c.5909_5917dup (p.Lys1972_Lys1973insThrAlaLys) c.5837_5845dup (p.Lys1948_Lys1949insThrAlaLys) c.5864_5872dup (p.Lys1957_Lys1958insThrAlaLys) c.5867_5875dup (p.Lys1958_Lys1959insThrAlaLys) c.5906_5914dup (p.Lys1971_Lys1972insThrAlaLys) c.5876_5884dup (p.Lys1961_Lys1962insThrAlaLys) n.2698_2706dup c.5771_5779dup (p.Lys1926_Lys1927insThrAlaLys) c.5834_5842dup (p.Lys1947_Lys1948insThrAlaLys) c.5774_5782dup (p.Lys1927_Lys1928insThrAlaLys) c.5972_5980dup (p.Lys1993_Lys1994insThrAlaLys) c.5969_5977dup (p.Lys1992_Lys1993insThrAlaLys) | ClinVar dbSNP |
2 | g.71679102_71679110del | CA1139532924 | DYSF | c.3344_3352del (p.Thr1115_Lys1117del) c.2561_2569del (p.Thr854_Lys856del) c.2669_2677del (p.Thr890_Lys892del) c.5813_5821del (p.Thr1938_Lys1940del) c.5930_5938del (p.Thr1977_Lys1979del) c.5816_5824del (p.Thr1939_Lys1941del) c.5879_5887del (p.Thr1960_Lys1962del) c.5927_5935del (p.Thr1976_Lys1978del) c.5909_5917del (p.Thr1970_Lys1972del) c.5837_5845del (p.Thr1946_Lys1948del) c.5864_5872del (p.Thr1955_Lys1957del) c.5867_5875del (p.Thr1956_Lys1958del) c.5906_5914del (p.Thr1969_Lys1971del) c.5876_5884del (p.Thr1959_Lys1961del) n.2698_2706del c.5771_5779del (p.Thr1924_Lys1926del) c.5834_5842del (p.Thr1945_Lys1947del) c.5774_5782del (p.Thr1925_Lys1927del) c.5972_5980del (p.Thr1991_Lys1993del) c.5969_5977del (p.Thr1990_Lys1992del) | ClinVar |
2 | g.71679094del | CA2586969544 | DYSF | c.3336del (p.Ala1113ProfsTer?) c.2553del (p.Ala852ProfsTer?) c.2661del (p.Ala888ProfsTer?) c.5805del (p.Ala1936ProfsTer?) c.5922del (p.Ala1975ProfsTer?) c.5808del (p.Ala1937ProfsTer?) c.5871del (p.Ala1958ProfsTer?) c.5919del (p.Ala1974ProfsTer?) c.5901del (p.Ala1968ProfsTer?) c.5829del (p.Ala1944ProfsTer?) c.5856del (p.Ala1953ProfsTer?) c.5859del (p.Ala1954ProfsTer?) c.5898del (p.Ala1967ProfsTer?) c.5868del (p.Ala1957ProfsTer?) n.2690del c.5763del (p.Ala1922ProfsTer?) c.5826del (p.Ala1943ProfsTer?) c.5766del (p.Ala1923ProfsTer?) c.5964del (p.Ala1989ProfsTer?) c.5961del (p.Ala1988ProfsTer?) | |
2 | g.71679094A= | CA1260156841 | DYSF | c.3336A= (p.Pro1112=) c.2553A= (p.Pro851=) c.2661A= (p.Pro887=) c.5805A= (p.Pro1935=) c.5922A= (p.Pro1974=) c.5808A= (p.Pro1936=) c.5871A= (p.Pro1957=) c.5919A= (p.Pro1973=) c.5901A= (p.Pro1967=) c.5829A= (p.Pro1943=) c.5856A= (p.Pro1952=) c.5859A= (p.Pro1953=) c.5898A= (p.Pro1966=) c.5868A= (p.Pro1956=) n.2690A= c.5763A= (p.Pro1921=) c.5826A= (p.Pro1942=) c.5766A= (p.Pro1922=) c.5964A= (p.Pro1988=) c.5961A= (p.Pro1987=) | |
2 | g.71679094A>C | CA426704688 | DYSF | c.3336A>C (p.Pro1112=) c.2553A>C (p.Pro851=) c.2661A>C (p.Pro887=) c.5805A>C (p.Pro1935=) c.5922A>C (p.Pro1974=) c.5808A>C (p.Pro1936=) c.5871A>C (p.Pro1957=) c.5919A>C (p.Pro1973=) c.5901A>C (p.Pro1967=) c.5829A>C (p.Pro1943=) c.5856A>C (p.Pro1952=) c.5859A>C (p.Pro1953=) c.5898A>C (p.Pro1966=) c.5868A>C (p.Pro1956=) n.2690A>C c.5763A>C (p.Pro1921=) c.5826A>C (p.Pro1942=) c.5766A>C (p.Pro1922=) c.5964A>C (p.Pro1988=) c.5961A>C (p.Pro1987=) | |
2 | g.71679094A>G | CA426704687 | DYSF | c.3336A>G (p.Pro1112=) c.2553A>G (p.Pro851=) c.2661A>G (p.Pro887=) c.5805A>G (p.Pro1935=) c.5922A>G (p.Pro1974=) c.5808A>G (p.Pro1936=) c.5871A>G (p.Pro1957=) c.5919A>G (p.Pro1973=) c.5901A>G (p.Pro1967=) c.5829A>G (p.Pro1943=) c.5856A>G (p.Pro1952=) c.5859A>G (p.Pro1953=) c.5898A>G (p.Pro1966=) c.5868A>G (p.Pro1956=) n.2690A>G c.5763A>G (p.Pro1921=) c.5826A>G (p.Pro1942=) c.5766A>G (p.Pro1922=) c.5964A>G (p.Pro1988=) c.5961A>G (p.Pro1987=) | |
2 | g.71679094A>T | CA426704686 | DYSF | c.3336A>T (p.Pro1112=) c.2553A>T (p.Pro851=) c.2661A>T (p.Pro887=) c.5805A>T (p.Pro1935=) c.5922A>T (p.Pro1974=) c.5808A>T (p.Pro1936=) c.5871A>T (p.Pro1957=) c.5919A>T (p.Pro1973=) c.5901A>T (p.Pro1967=) c.5829A>T (p.Pro1943=) c.5856A>T (p.Pro1952=) c.5859A>T (p.Pro1953=) c.5898A>T (p.Pro1966=) c.5868A>T (p.Pro1956=) n.2690A>T c.5763A>T (p.Pro1921=) c.5826A>T (p.Pro1942=) c.5766A>T (p.Pro1922=) c.5964A>T (p.Pro1988=) c.5961A>T (p.Pro1987=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679095G>A | CA347226289 | DYSF | c.3337G>A (p.Ala1113Thr) c.2554G>A (p.Ala852Thr) c.2662G>A (p.Ala888Thr) c.5806G>A (p.Ala1936Thr) c.5923G>A (p.Ala1975Thr) c.5809G>A (p.Ala1937Thr) c.5872G>A (p.Ala1958Thr) c.5920G>A (p.Ala1974Thr) c.5902G>A (p.Ala1968Thr) c.5830G>A (p.Ala1944Thr) c.5857G>A (p.Ala1953Thr) c.5860G>A (p.Ala1954Thr) c.5899G>A (p.Ala1967Thr) c.5869G>A (p.Ala1957Thr) n.2691G>A c.5764G>A (p.Ala1922Thr) c.5827G>A (p.Ala1943Thr) c.5767G>A (p.Ala1923Thr) c.5965G>A (p.Ala1989Thr) c.5962G>A (p.Ala1988Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.71679095G>C | CA347226290 | DYSF | c.3337G>C (p.Ala1113Pro) c.2554G>C (p.Ala852Pro) c.2662G>C (p.Ala888Pro) c.5806G>C (p.Ala1936Pro) c.5923G>C (p.Ala1975Pro) c.5809G>C (p.Ala1937Pro) c.5872G>C (p.Ala1958Pro) c.5920G>C (p.Ala1974Pro) c.5902G>C (p.Ala1968Pro) c.5830G>C (p.Ala1944Pro) c.5857G>C (p.Ala1953Pro) c.5860G>C (p.Ala1954Pro) c.5899G>C (p.Ala1967Pro) c.5869G>C (p.Ala1957Pro) n.2691G>C c.5764G>C (p.Ala1922Pro) c.5827G>C (p.Ala1943Pro) c.5767G>C (p.Ala1923Pro) c.5965G>C (p.Ala1989Pro) c.5962G>C (p.Ala1988Pro) | |
2 | g.71679095G= | CA1260156842 | DYSF | c.3337G= (p.Ala1113=) c.2554G= (p.Ala852=) c.2662G= (p.Ala888=) c.5806G= (p.Ala1936=) c.5923G= (p.Ala1975=) c.5809G= (p.Ala1937=) c.5872G= (p.Ala1958=) c.5920G= (p.Ala1974=) c.5902G= (p.Ala1968=) c.5830G= (p.Ala1944=) c.5857G= (p.Ala1953=) c.5860G= (p.Ala1954=) c.5899G= (p.Ala1967=) c.5869G= (p.Ala1957=) n.2691G= c.5764G= (p.Ala1922=) c.5827G= (p.Ala1943=) c.5767G= (p.Ala1923=) c.5965G= (p.Ala1989=) c.5962G= (p.Ala1988=) | |
2 | g.71679095G>T | CA347226291 | DYSF | c.3337G>T (p.Ala1113Ser) c.2554G>T (p.Ala852Ser) c.2662G>T (p.Ala888Ser) c.5806G>T (p.Ala1936Ser) c.5923G>T (p.Ala1975Ser) c.5809G>T (p.Ala1937Ser) c.5872G>T (p.Ala1958Ser) c.5920G>T (p.Ala1974Ser) c.5902G>T (p.Ala1968Ser) c.5830G>T (p.Ala1944Ser) c.5857G>T (p.Ala1953Ser) c.5860G>T (p.Ala1954Ser) c.5899G>T (p.Ala1967Ser) c.5869G>T (p.Ala1957Ser) n.2691G>T c.5764G>T (p.Ala1922Ser) c.5827G>T (p.Ala1943Ser) c.5767G>T (p.Ala1923Ser) c.5965G>T (p.Ala1989Ser) c.5962G>T (p.Ala1988Ser) | |
2 | g.71679096C>A | CA347226292 | DYSF | c.3338C>A (p.Ala1113Asp) c.2555C>A (p.Ala852Asp) c.2663C>A (p.Ala888Asp) c.5807C>A (p.Ala1936Asp) c.5924C>A (p.Ala1975Asp) c.5810C>A (p.Ala1937Asp) c.5873C>A (p.Ala1958Asp) c.5921C>A (p.Ala1974Asp) c.5903C>A (p.Ala1968Asp) c.5831C>A (p.Ala1944Asp) c.5858C>A (p.Ala1953Asp) c.5861C>A (p.Ala1954Asp) c.5900C>A (p.Ala1967Asp) c.5870C>A (p.Ala1957Asp) n.2692C>A c.5765C>A (p.Ala1922Asp) c.5828C>A (p.Ala1943Asp) c.5768C>A (p.Ala1923Asp) c.5966C>A (p.Ala1989Asp) c.5963C>A (p.Ala1988Asp) | |
2 | g.71679096C>G | CA347226293 | DYSF | c.3338C>G (p.Ala1113Gly) c.2555C>G (p.Ala852Gly) c.2663C>G (p.Ala888Gly) c.5807C>G (p.Ala1936Gly) c.5924C>G (p.Ala1975Gly) c.5810C>G (p.Ala1937Gly) c.5873C>G (p.Ala1958Gly) c.5921C>G (p.Ala1974Gly) c.5903C>G (p.Ala1968Gly) c.5831C>G (p.Ala1944Gly) c.5858C>G (p.Ala1953Gly) c.5861C>G (p.Ala1954Gly) c.5900C>G (p.Ala1967Gly) c.5870C>G (p.Ala1957Gly) n.2692C>G c.5765C>G (p.Ala1922Gly) c.5828C>G (p.Ala1943Gly) c.5768C>G (p.Ala1923Gly) c.5966C>G (p.Ala1989Gly) c.5963C>G (p.Ala1988Gly) | |
2 | g.71679096C>T | CA347226294 | DYSF | c.3338C>T (p.Ala1113Val) c.2555C>T (p.Ala852Val) c.2663C>T (p.Ala888Val) c.5807C>T (p.Ala1936Val) c.5924C>T (p.Ala1975Val) c.5810C>T (p.Ala1937Val) c.5873C>T (p.Ala1958Val) c.5921C>T (p.Ala1974Val) c.5903C>T (p.Ala1968Val) c.5831C>T (p.Ala1944Val) c.5858C>T (p.Ala1953Val) c.5861C>T (p.Ala1954Val) c.5900C>T (p.Ala1967Val) c.5870C>T (p.Ala1957Val) n.2692C>T c.5765C>T (p.Ala1922Val) c.5828C>T (p.Ala1943Val) c.5768C>T (p.Ala1923Val) c.5966C>T (p.Ala1989Val) c.5963C>T (p.Ala1988Val) | |
2 | g.71679097C>A | CA426704690 | DYSF | c.3339C>A (p.Ala1113=) c.2556C>A (p.Ala852=) c.2664C>A (p.Ala888=) c.5808C>A (p.Ala1936=) c.5925C>A (p.Ala1975=) c.5811C>A (p.Ala1937=) c.5874C>A (p.Ala1958=) c.5922C>A (p.Ala1974=) c.5904C>A (p.Ala1968=) c.5832C>A (p.Ala1944=) c.5859C>A (p.Ala1953=) c.5862C>A (p.Ala1954=) c.5901C>A (p.Ala1967=) c.5871C>A (p.Ala1957=) n.2693C>A c.5766C>A (p.Ala1922=) c.5829C>A (p.Ala1943=) c.5769C>A (p.Ala1923=) c.5967C>A (p.Ala1989=) c.5964C>A (p.Ala1988=) | |
2 | g.71679097C>G | CA426704692 | DYSF | c.3339C>G (p.Ala1113=) c.2556C>G (p.Ala852=) c.2664C>G (p.Ala888=) c.5808C>G (p.Ala1936=) c.5925C>G (p.Ala1975=) c.5811C>G (p.Ala1937=) c.5874C>G (p.Ala1958=) c.5922C>G (p.Ala1974=) c.5904C>G (p.Ala1968=) c.5832C>G (p.Ala1944=) c.5859C>G (p.Ala1953=) c.5862C>G (p.Ala1954=) c.5901C>G (p.Ala1967=) c.5871C>G (p.Ala1957=) n.2693C>G c.5766C>G (p.Ala1922=) c.5829C>G (p.Ala1943=) c.5769C>G (p.Ala1923=) c.5967C>G (p.Ala1989=) c.5964C>G (p.Ala1988=) | |
2 | g.71679097C>T | CA426704691 | DYSF | c.3339C>T (p.Ala1113=) c.2556C>T (p.Ala852=) c.2664C>T (p.Ala888=) c.5808C>T (p.Ala1936=) c.5925C>T (p.Ala1975=) c.5811C>T (p.Ala1937=) c.5874C>T (p.Ala1958=) c.5922C>T (p.Ala1974=) c.5904C>T (p.Ala1968=) c.5832C>T (p.Ala1944=) c.5859C>T (p.Ala1953=) c.5862C>T (p.Ala1954=) c.5901C>T (p.Ala1967=) c.5871C>T (p.Ala1957=) n.2693C>T c.5766C>T (p.Ala1922=) c.5829C>T (p.Ala1943=) c.5769C>T (p.Ala1923=) c.5967C>T (p.Ala1989=) c.5964C>T (p.Ala1988=) | |
2 | g.71679098A= | CA1260156843 | DYSF | c.3340A= (p.Lys1114=) c.2557A= (p.Lys853=) c.2665A= (p.Lys889=) c.5809A= (p.Lys1937=) c.5926A= (p.Lys1976=) c.5812A= (p.Lys1938=) c.5875A= (p.Lys1959=) c.5923A= (p.Lys1975=) c.5905A= (p.Lys1969=) c.5833A= (p.Lys1945=) c.5860A= (p.Lys1954=) c.5863A= (p.Lys1955=) c.5902A= (p.Lys1968=) c.5872A= (p.Lys1958=) n.2694A= c.5767A= (p.Lys1923=) c.5830A= (p.Lys1944=) c.5770A= (p.Lys1924=) c.5968A= (p.Lys1990=) c.5965A= (p.Lys1989=) | |
2 | g.71679098A>C | CA347226295 | DYSF | c.3340A>C (p.Lys1114Gln) c.2557A>C (p.Lys853Gln) c.2665A>C (p.Lys889Gln) c.5809A>C (p.Lys1937Gln) c.5926A>C (p.Lys1976Gln) c.5812A>C (p.Lys1938Gln) c.5875A>C (p.Lys1959Gln) c.5923A>C (p.Lys1975Gln) c.5905A>C (p.Lys1969Gln) c.5833A>C (p.Lys1945Gln) c.5860A>C (p.Lys1954Gln) c.5863A>C (p.Lys1955Gln) c.5902A>C (p.Lys1968Gln) c.5872A>C (p.Lys1958Gln) n.2694A>C c.5767A>C (p.Lys1923Gln) c.5830A>C (p.Lys1944Gln) c.5770A>C (p.Lys1924Gln) c.5968A>C (p.Lys1990Gln) c.5965A>C (p.Lys1989Gln) | |
2 | g.71679098A>G | CA347226297 | DYSF | c.3340A>G (p.Lys1114Glu) c.2557A>G (p.Lys853Glu) c.2665A>G (p.Lys889Glu) c.5809A>G (p.Lys1937Glu) c.5926A>G (p.Lys1976Glu) c.5812A>G (p.Lys1938Glu) c.5875A>G (p.Lys1959Glu) c.5923A>G (p.Lys1975Glu) c.5905A>G (p.Lys1969Glu) c.5833A>G (p.Lys1945Glu) c.5860A>G (p.Lys1954Glu) c.5863A>G (p.Lys1955Glu) c.5902A>G (p.Lys1968Glu) c.5872A>G (p.Lys1958Glu) n.2694A>G c.5767A>G (p.Lys1923Glu) c.5830A>G (p.Lys1944Glu) c.5770A>G (p.Lys1924Glu) c.5968A>G (p.Lys1990Glu) c.5965A>G (p.Lys1989Glu) | ClinVar dbSNP gnomAD v4 |
2 | g.71679098A>T | CA347226296 | DYSF | c.3340A>T (p.Lys1114Ter) c.2557A>T (p.Lys853Ter) c.2665A>T (p.Lys889Ter) c.5809A>T (p.Lys1937Ter) c.5926A>T (p.Lys1976Ter) c.5812A>T (p.Lys1938Ter) c.5875A>T (p.Lys1959Ter) c.5923A>T (p.Lys1975Ter) c.5905A>T (p.Lys1969Ter) c.5833A>T (p.Lys1945Ter) c.5860A>T (p.Lys1954Ter) c.5863A>T (p.Lys1955Ter) c.5902A>T (p.Lys1968Ter) c.5872A>T (p.Lys1958Ter) n.2694A>T c.5767A>T (p.Lys1923Ter) c.5830A>T (p.Lys1944Ter) c.5770A>T (p.Lys1924Ter) c.5968A>T (p.Lys1990Ter) c.5965A>T (p.Lys1989Ter) | |
2 | g.71679099A>C | CA347226298 | DYSF | c.3341A>C (p.Lys1114Thr) c.2558A>C (p.Lys853Thr) c.2666A>C (p.Lys889Thr) c.5810A>C (p.Lys1937Thr) c.5927A>C (p.Lys1976Thr) c.5813A>C (p.Lys1938Thr) c.5876A>C (p.Lys1959Thr) c.5924A>C (p.Lys1975Thr) c.5906A>C (p.Lys1969Thr) c.5834A>C (p.Lys1945Thr) c.5861A>C (p.Lys1954Thr) c.5864A>C (p.Lys1955Thr) c.5903A>C (p.Lys1968Thr) c.5873A>C (p.Lys1958Thr) n.2695A>C c.5768A>C (p.Lys1923Thr) c.5831A>C (p.Lys1944Thr) c.5771A>C (p.Lys1924Thr) c.5969A>C (p.Lys1990Thr) c.5966A>C (p.Lys1989Thr) | |
2 | g.71679099A>G | CA347226300 | DYSF | c.3341A>G (p.Lys1114Arg) c.2558A>G (p.Lys853Arg) c.2666A>G (p.Lys889Arg) c.5810A>G (p.Lys1937Arg) c.5927A>G (p.Lys1976Arg) c.5813A>G (p.Lys1938Arg) c.5876A>G (p.Lys1959Arg) c.5924A>G (p.Lys1975Arg) c.5906A>G (p.Lys1969Arg) c.5834A>G (p.Lys1945Arg) c.5861A>G (p.Lys1954Arg) c.5864A>G (p.Lys1955Arg) c.5903A>G (p.Lys1968Arg) c.5873A>G (p.Lys1958Arg) n.2695A>G c.5768A>G (p.Lys1923Arg) c.5831A>G (p.Lys1944Arg) c.5771A>G (p.Lys1924Arg) c.5969A>G (p.Lys1990Arg) c.5966A>G (p.Lys1989Arg) | |
2 | g.71679099A>T | CA347226299 | DYSF | c.3341A>T (p.Lys1114Met) c.2558A>T (p.Lys853Met) c.2666A>T (p.Lys889Met) c.5810A>T (p.Lys1937Met) c.5927A>T (p.Lys1976Met) c.5813A>T (p.Lys1938Met) c.5876A>T (p.Lys1959Met) c.5924A>T (p.Lys1975Met) c.5906A>T (p.Lys1969Met) c.5834A>T (p.Lys1945Met) c.5861A>T (p.Lys1954Met) c.5864A>T (p.Lys1955Met) c.5903A>T (p.Lys1968Met) c.5873A>T (p.Lys1958Met) n.2695A>T c.5768A>T (p.Lys1923Met) c.5831A>T (p.Lys1944Met) c.5771A>T (p.Lys1924Met) c.5969A>T (p.Lys1990Met) c.5966A>T (p.Lys1989Met) | |
2 | g.71679100G>A | CA426704693 | DYSF | c.3342G>A (p.Lys1114=) c.2559G>A (p.Lys853=) c.2667G>A (p.Lys889=) c.5811G>A (p.Lys1937=) c.5928G>A (p.Lys1976=) c.5814G>A (p.Lys1938=) c.5877G>A (p.Lys1959=) c.5925G>A (p.Lys1975=) c.5907G>A (p.Lys1969=) c.5835G>A (p.Lys1945=) c.5862G>A (p.Lys1954=) c.5865G>A (p.Lys1955=) c.5904G>A (p.Lys1968=) c.5874G>A (p.Lys1958=) n.2696G>A c.5769G>A (p.Lys1923=) c.5832G>A (p.Lys1944=) c.5772G>A (p.Lys1924=) c.5970G>A (p.Lys1990=) c.5967G>A (p.Lys1989=) | |
2 | g.71679100G>C | CA347226301 | DYSF | c.3342G>C (p.Lys1114Asn) c.2559G>C (p.Lys853Asn) c.2667G>C (p.Lys889Asn) c.5811G>C (p.Lys1937Asn) c.5928G>C (p.Lys1976Asn) c.5814G>C (p.Lys1938Asn) c.5877G>C (p.Lys1959Asn) c.5925G>C (p.Lys1975Asn) c.5907G>C (p.Lys1969Asn) c.5835G>C (p.Lys1945Asn) c.5862G>C (p.Lys1954Asn) c.5865G>C (p.Lys1955Asn) c.5904G>C (p.Lys1968Asn) c.5874G>C (p.Lys1958Asn) n.2696G>C c.5769G>C (p.Lys1923Asn) c.5832G>C (p.Lys1944Asn) c.5772G>C (p.Lys1924Asn) c.5970G>C (p.Lys1990Asn) c.5967G>C (p.Lys1989Asn) | |
2 | g.71679100G>T | CA347226302 | DYSF | c.3342G>T (p.Lys1114Asn) c.2559G>T (p.Lys853Asn) c.2667G>T (p.Lys889Asn) c.5811G>T (p.Lys1937Asn) c.5928G>T (p.Lys1976Asn) c.5814G>T (p.Lys1938Asn) c.5877G>T (p.Lys1959Asn) c.5925G>T (p.Lys1975Asn) c.5907G>T (p.Lys1969Asn) c.5835G>T (p.Lys1945Asn) c.5862G>T (p.Lys1954Asn) c.5865G>T (p.Lys1955Asn) c.5904G>T (p.Lys1968Asn) c.5874G>T (p.Lys1958Asn) n.2696G>T c.5769G>T (p.Lys1923Asn) c.5832G>T (p.Lys1944Asn) c.5772G>T (p.Lys1924Asn) c.5970G>T (p.Lys1990Asn) c.5967G>T (p.Lys1989Asn) | |
2 | g.71679101A= | CA1260156844 | DYSF | c.3343A= (p.Thr1115=) c.2560A= (p.Thr854=) c.2668A= (p.Thr890=) c.5812A= (p.Thr1938=) c.5929A= (p.Thr1977=) c.5815A= (p.Thr1939=) c.5878A= (p.Thr1960=) c.5926A= (p.Thr1976=) c.5908A= (p.Thr1970=) c.5836A= (p.Thr1946=) c.5863A= (p.Thr1955=) c.5866A= (p.Thr1956=) c.5905A= (p.Thr1969=) c.5875A= (p.Thr1959=) n.2697A= c.5770A= (p.Thr1924=) c.5833A= (p.Thr1945=) c.5773A= (p.Thr1925=) c.5971A= (p.Thr1991=) c.5968A= (p.Thr1990=) | |
2 | g.71679101A>C | CA347226303 | DYSF | c.3343A>C (p.Thr1115Pro) c.2560A>C (p.Thr854Pro) c.2668A>C (p.Thr890Pro) c.5812A>C (p.Thr1938Pro) c.5929A>C (p.Thr1977Pro) c.5815A>C (p.Thr1939Pro) c.5878A>C (p.Thr1960Pro) c.5926A>C (p.Thr1976Pro) c.5908A>C (p.Thr1970Pro) c.5836A>C (p.Thr1946Pro) c.5863A>C (p.Thr1955Pro) c.5866A>C (p.Thr1956Pro) c.5905A>C (p.Thr1969Pro) c.5875A>C (p.Thr1959Pro) n.2697A>C c.5770A>C (p.Thr1924Pro) c.5833A>C (p.Thr1945Pro) c.5773A>C (p.Thr1925Pro) c.5971A>C (p.Thr1991Pro) c.5968A>C (p.Thr1990Pro) | |
2 | g.71679101A>G | CA347226304 | DYSF | c.3343A>G (p.Thr1115Ala) c.2560A>G (p.Thr854Ala) c.2668A>G (p.Thr890Ala) c.5812A>G (p.Thr1938Ala) c.5929A>G (p.Thr1977Ala) c.5815A>G (p.Thr1939Ala) c.5878A>G (p.Thr1960Ala) c.5926A>G (p.Thr1976Ala) c.5908A>G (p.Thr1970Ala) c.5836A>G (p.Thr1946Ala) c.5863A>G (p.Thr1955Ala) c.5866A>G (p.Thr1956Ala) c.5905A>G (p.Thr1969Ala) c.5875A>G (p.Thr1959Ala) n.2697A>G c.5770A>G (p.Thr1924Ala) c.5833A>G (p.Thr1945Ala) c.5773A>G (p.Thr1925Ala) c.5971A>G (p.Thr1991Ala) c.5968A>G (p.Thr1990Ala) | dbSNP |
2 | g.71679101A>T | CA347226305 | DYSF | c.3343A>T (p.Thr1115Ser) c.2560A>T (p.Thr854Ser) c.2668A>T (p.Thr890Ser) c.5812A>T (p.Thr1938Ser) c.5929A>T (p.Thr1977Ser) c.5815A>T (p.Thr1939Ser) c.5878A>T (p.Thr1960Ser) c.5926A>T (p.Thr1976Ser) c.5908A>T (p.Thr1970Ser) c.5836A>T (p.Thr1946Ser) c.5863A>T (p.Thr1955Ser) c.5866A>T (p.Thr1956Ser) c.5905A>T (p.Thr1969Ser) c.5875A>T (p.Thr1959Ser) n.2697A>T c.5770A>T (p.Thr1924Ser) c.5833A>T (p.Thr1945Ser) c.5773A>T (p.Thr1925Ser) c.5971A>T (p.Thr1991Ser) c.5968A>T (p.Thr1990Ser) | |
2 | g.71679102C>A | CA347226306 | DYSF | c.3344C>A (p.Thr1115Lys) c.2561C>A (p.Thr854Lys) c.2669C>A (p.Thr890Lys) c.5813C>A (p.Thr1938Lys) c.5930C>A (p.Thr1977Lys) c.5816C>A (p.Thr1939Lys) c.5879C>A (p.Thr1960Lys) c.5927C>A (p.Thr1976Lys) c.5909C>A (p.Thr1970Lys) c.5837C>A (p.Thr1946Lys) c.5864C>A (p.Thr1955Lys) c.5867C>A (p.Thr1956Lys) c.5906C>A (p.Thr1969Lys) c.5876C>A (p.Thr1959Lys) n.2698C>A c.5771C>A (p.Thr1924Lys) c.5834C>A (p.Thr1945Lys) c.5774C>A (p.Thr1925Lys) c.5972C>A (p.Thr1991Lys) c.5969C>A (p.Thr1990Lys) | |
2 | g.71679102C= | CA1260156845 | DYSF | c.3344C= (p.Thr1115=) c.2561C= (p.Thr854=) c.2669C= (p.Thr890=) c.5813C= (p.Thr1938=) c.5930C= (p.Thr1977=) c.5816C= (p.Thr1939=) c.5879C= (p.Thr1960=) c.5927C= (p.Thr1976=) c.5909C= (p.Thr1970=) c.5837C= (p.Thr1946=) c.5864C= (p.Thr1955=) c.5867C= (p.Thr1956=) c.5906C= (p.Thr1969=) c.5876C= (p.Thr1959=) n.2698C= c.5771C= (p.Thr1924=) c.5834C= (p.Thr1945=) c.5774C= (p.Thr1925=) c.5972C= (p.Thr1991=) c.5969C= (p.Thr1990=) | |
2 | g.71679102C>G | CA347226307 | DYSF | c.3344C>G (p.Thr1115Arg) c.2561C>G (p.Thr854Arg) c.2669C>G (p.Thr890Arg) c.5813C>G (p.Thr1938Arg) c.5930C>G (p.Thr1977Arg) c.5816C>G (p.Thr1939Arg) c.5879C>G (p.Thr1960Arg) c.5927C>G (p.Thr1976Arg) c.5909C>G (p.Thr1970Arg) c.5837C>G (p.Thr1946Arg) c.5864C>G (p.Thr1955Arg) c.5867C>G (p.Thr1956Arg) c.5906C>G (p.Thr1969Arg) c.5876C>G (p.Thr1959Arg) n.2698C>G c.5771C>G (p.Thr1924Arg) c.5834C>G (p.Thr1945Arg) c.5774C>G (p.Thr1925Arg) c.5972C>G (p.Thr1991Arg) c.5969C>G (p.Thr1990Arg) | |
2 | g.71679102C>T | CA1707552 | DYSF | c.3344C>T (p.Thr1115Ile) c.2561C>T (p.Thr854Ile) c.2669C>T (p.Thr890Ile) c.5813C>T (p.Thr1938Ile) c.5930C>T (p.Thr1977Ile) c.5816C>T (p.Thr1939Ile) c.5879C>T (p.Thr1960Ile) c.5927C>T (p.Thr1976Ile) c.5909C>T (p.Thr1970Ile) c.5837C>T (p.Thr1946Ile) c.5864C>T (p.Thr1955Ile) c.5867C>T (p.Thr1956Ile) c.5906C>T (p.Thr1969Ile) c.5876C>T (p.Thr1959Ile) n.2698C>T c.5771C>T (p.Thr1924Ile) c.5834C>T (p.Thr1945Ile) c.5774C>T (p.Thr1925Ile) c.5972C>T (p.Thr1991Ile) c.5969C>T (p.Thr1990Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679103A>C | CA426704694 | DYSF | c.3345A>C (p.Thr1115=) c.2562A>C (p.Thr854=) c.2670A>C (p.Thr890=) c.5814A>C (p.Thr1938=) c.5931A>C (p.Thr1977=) c.5817A>C (p.Thr1939=) c.5880A>C (p.Thr1960=) c.5928A>C (p.Thr1976=) c.5910A>C (p.Thr1970=) c.5838A>C (p.Thr1946=) c.5865A>C (p.Thr1955=) c.5868A>C (p.Thr1956=) c.5907A>C (p.Thr1969=) c.5877A>C (p.Thr1959=) n.2699A>C c.5772A>C (p.Thr1924=) c.5835A>C (p.Thr1945=) c.5775A>C (p.Thr1925=) c.5973A>C (p.Thr1991=) c.5970A>C (p.Thr1990=) | |
2 | g.71679103A>G | CA426704695 | DYSF | c.3345A>G (p.Thr1115=) c.2562A>G (p.Thr854=) c.2670A>G (p.Thr890=) c.5814A>G (p.Thr1938=) c.5931A>G (p.Thr1977=) c.5817A>G (p.Thr1939=) c.5880A>G (p.Thr1960=) c.5928A>G (p.Thr1976=) c.5910A>G (p.Thr1970=) c.5838A>G (p.Thr1946=) c.5865A>G (p.Thr1955=) c.5868A>G (p.Thr1956=) c.5907A>G (p.Thr1969=) c.5877A>G (p.Thr1959=) n.2699A>G c.5772A>G (p.Thr1924=) c.5835A>G (p.Thr1945=) c.5775A>G (p.Thr1925=) c.5973A>G (p.Thr1991=) c.5970A>G (p.Thr1990=) | |
2 | g.71679103A>T | CA426704696 | DYSF | c.3345A>T (p.Thr1115=) c.2562A>T (p.Thr854=) c.2670A>T (p.Thr890=) c.5814A>T (p.Thr1938=) c.5931A>T (p.Thr1977=) c.5817A>T (p.Thr1939=) c.5880A>T (p.Thr1960=) c.5928A>T (p.Thr1976=) c.5910A>T (p.Thr1970=) c.5838A>T (p.Thr1946=) c.5865A>T (p.Thr1955=) c.5868A>T (p.Thr1956=) c.5907A>T (p.Thr1969=) c.5877A>T (p.Thr1959=) n.2699A>T c.5772A>T (p.Thr1924=) c.5835A>T (p.Thr1945=) c.5775A>T (p.Thr1925=) c.5973A>T (p.Thr1991=) c.5970A>T (p.Thr1990=) | |
2 | g.71679104G>A | CA1707553 | DYSF | c.3346G>A (p.Ala1116Thr) c.2563G>A (p.Ala855Thr) c.2671G>A (p.Ala891Thr) c.5815G>A (p.Ala1939Thr) c.5932G>A (p.Ala1978Thr) c.5818G>A (p.Ala1940Thr) c.5881G>A (p.Ala1961Thr) c.5929G>A (p.Ala1977Thr) c.5911G>A (p.Ala1971Thr) c.5839G>A (p.Ala1947Thr) c.5866G>A (p.Ala1956Thr) c.5869G>A (p.Ala1957Thr) c.5908G>A (p.Ala1970Thr) c.5878G>A (p.Ala1960Thr) n.2700G>A c.5773G>A (p.Ala1925Thr) c.5836G>A (p.Ala1946Thr) c.5776G>A (p.Ala1926Thr) c.5974G>A (p.Ala1992Thr) c.5971G>A (p.Ala1991Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679104G>C | CA347226308 | DYSF | c.3346G>C (p.Ala1116Pro) c.2563G>C (p.Ala855Pro) c.2671G>C (p.Ala891Pro) c.5815G>C (p.Ala1939Pro) c.5932G>C (p.Ala1978Pro) c.5818G>C (p.Ala1940Pro) c.5881G>C (p.Ala1961Pro) c.5929G>C (p.Ala1977Pro) c.5911G>C (p.Ala1971Pro) c.5839G>C (p.Ala1947Pro) c.5866G>C (p.Ala1956Pro) c.5869G>C (p.Ala1957Pro) c.5908G>C (p.Ala1970Pro) c.5878G>C (p.Ala1960Pro) n.2700G>C c.5773G>C (p.Ala1925Pro) c.5836G>C (p.Ala1946Pro) c.5776G>C (p.Ala1926Pro) c.5974G>C (p.Ala1992Pro) c.5971G>C (p.Ala1991Pro) | |
2 | g.71679104G= | CA1260156846 | DYSF | c.3346G= (p.Ala1116=) c.2563G= (p.Ala855=) c.2671G= (p.Ala891=) c.5815G= (p.Ala1939=) c.5932G= (p.Ala1978=) c.5818G= (p.Ala1940=) c.5881G= (p.Ala1961=) c.5929G= (p.Ala1977=) c.5911G= (p.Ala1971=) c.5839G= (p.Ala1947=) c.5866G= (p.Ala1956=) c.5869G= (p.Ala1957=) c.5908G= (p.Ala1970=) c.5878G= (p.Ala1960=) n.2700G= c.5773G= (p.Ala1925=) c.5836G= (p.Ala1946=) c.5776G= (p.Ala1926=) c.5974G= (p.Ala1992=) c.5971G= (p.Ala1991=) | |
2 | g.71679104G>T | CA347226309 | DYSF | c.3346G>T (p.Ala1116Ser) c.2563G>T (p.Ala855Ser) c.2671G>T (p.Ala891Ser) c.5815G>T (p.Ala1939Ser) c.5932G>T (p.Ala1978Ser) c.5818G>T (p.Ala1940Ser) c.5881G>T (p.Ala1961Ser) c.5929G>T (p.Ala1977Ser) c.5911G>T (p.Ala1971Ser) c.5839G>T (p.Ala1947Ser) c.5866G>T (p.Ala1956Ser) c.5869G>T (p.Ala1957Ser) c.5908G>T (p.Ala1970Ser) c.5878G>T (p.Ala1960Ser) n.2700G>T c.5773G>T (p.Ala1925Ser) c.5836G>T (p.Ala1946Ser) c.5776G>T (p.Ala1926Ser) c.5974G>T (p.Ala1992Ser) c.5971G>T (p.Ala1991Ser) | |
2 | g.71679105C>A | CA347226312 | DYSF | c.3347C>A (p.Ala1116Asp) c.2564C>A (p.Ala855Asp) c.2672C>A (p.Ala891Asp) c.5816C>A (p.Ala1939Asp) c.5933C>A (p.Ala1978Asp) c.5819C>A (p.Ala1940Asp) c.5882C>A (p.Ala1961Asp) c.5930C>A (p.Ala1977Asp) c.5912C>A (p.Ala1971Asp) c.5840C>A (p.Ala1947Asp) c.5867C>A (p.Ala1956Asp) c.5870C>A (p.Ala1957Asp) c.5909C>A (p.Ala1970Asp) c.5879C>A (p.Ala1960Asp) n.2701C>A c.5774C>A (p.Ala1925Asp) c.5837C>A (p.Ala1946Asp) c.5777C>A (p.Ala1926Asp) c.5975C>A (p.Ala1992Asp) c.5972C>A (p.Ala1991Asp) | |
2 | g.71679105C>G | CA347226311 | DYSF | c.3347C>G (p.Ala1116Gly) c.2564C>G (p.Ala855Gly) c.2672C>G (p.Ala891Gly) c.5816C>G (p.Ala1939Gly) c.5933C>G (p.Ala1978Gly) c.5819C>G (p.Ala1940Gly) c.5882C>G (p.Ala1961Gly) c.5930C>G (p.Ala1977Gly) c.5912C>G (p.Ala1971Gly) c.5840C>G (p.Ala1947Gly) c.5867C>G (p.Ala1956Gly) c.5870C>G (p.Ala1957Gly) c.5909C>G (p.Ala1970Gly) c.5879C>G (p.Ala1960Gly) n.2701C>G c.5774C>G (p.Ala1925Gly) c.5837C>G (p.Ala1946Gly) c.5777C>G (p.Ala1926Gly) c.5975C>G (p.Ala1992Gly) c.5972C>G (p.Ala1991Gly) | |
2 | g.71679105C>T | CA347226310 | DYSF | c.3347C>T (p.Ala1116Val) c.2564C>T (p.Ala855Val) c.2672C>T (p.Ala891Val) c.5816C>T (p.Ala1939Val) c.5933C>T (p.Ala1978Val) c.5819C>T (p.Ala1940Val) c.5882C>T (p.Ala1961Val) c.5930C>T (p.Ala1977Val) c.5912C>T (p.Ala1971Val) c.5840C>T (p.Ala1947Val) c.5867C>T (p.Ala1956Val) c.5870C>T (p.Ala1957Val) c.5909C>T (p.Ala1970Val) c.5879C>T (p.Ala1960Val) n.2701C>T c.5774C>T (p.Ala1925Val) c.5837C>T (p.Ala1946Val) c.5777C>T (p.Ala1926Val) c.5975C>T (p.Ala1992Val) c.5972C>T (p.Ala1991Val) | |
2 | g.71679106C>A | CA10606158 | DYSF | c.3348C>A (p.Ala1116=) c.2565C>A (p.Ala855=) c.2673C>A (p.Ala891=) c.5817C>A (p.Ala1939=) c.5934C>A (p.Ala1978=) c.5820C>A (p.Ala1940=) c.5883C>A (p.Ala1961=) c.5931C>A (p.Ala1977=) c.5913C>A (p.Ala1971=) c.5841C>A (p.Ala1947=) c.5868C>A (p.Ala1956=) c.5871C>A (p.Ala1957=) c.5910C>A (p.Ala1970=) c.5880C>A (p.Ala1960=) n.2702C>A c.5775C>A (p.Ala1925=) c.5838C>A (p.Ala1946=) c.5778C>A (p.Ala1926=) c.5976C>A (p.Ala1992=) c.5973C>A (p.Ala1991=) | ClinVar dbSNP gnomAD v4 |
2 | g.71679106C= | CA1260156847 | DYSF | c.3348C= (p.Ala1116=) c.2565C= (p.Ala855=) c.2673C= (p.Ala891=) c.5817C= (p.Ala1939=) c.5934C= (p.Ala1978=) c.5820C= (p.Ala1940=) c.5883C= (p.Ala1961=) c.5931C= (p.Ala1977=) c.5913C= (p.Ala1971=) c.5841C= (p.Ala1947=) c.5868C= (p.Ala1956=) c.5871C= (p.Ala1957=) c.5910C= (p.Ala1970=) c.5880C= (p.Ala1960=) n.2702C= c.5775C= (p.Ala1925=) c.5838C= (p.Ala1946=) c.5778C= (p.Ala1926=) c.5976C= (p.Ala1992=) c.5973C= (p.Ala1991=) | |
2 | g.71679106C>G | CA426704697 | DYSF | c.3348C>G (p.Ala1116=) c.2565C>G (p.Ala855=) c.2673C>G (p.Ala891=) c.5817C>G (p.Ala1939=) c.5934C>G (p.Ala1978=) c.5820C>G (p.Ala1940=) c.5883C>G (p.Ala1961=) c.5931C>G (p.Ala1977=) c.5913C>G (p.Ala1971=) c.5841C>G (p.Ala1947=) c.5868C>G (p.Ala1956=) c.5871C>G (p.Ala1957=) c.5910C>G (p.Ala1970=) c.5880C>G (p.Ala1960=) n.2702C>G c.5775C>G (p.Ala1925=) c.5838C>G (p.Ala1946=) c.5778C>G (p.Ala1926=) c.5976C>G (p.Ala1992=) c.5973C>G (p.Ala1991=) | |
2 | g.71679106C>T | CA426704698 | DYSF | c.3348C>T (p.Ala1116=) c.2565C>T (p.Ala855=) c.2673C>T (p.Ala891=) c.5817C>T (p.Ala1939=) c.5934C>T (p.Ala1978=) c.5820C>T (p.Ala1940=) c.5883C>T (p.Ala1961=) c.5931C>T (p.Ala1977=) c.5913C>T (p.Ala1971=) c.5841C>T (p.Ala1947=) c.5868C>T (p.Ala1956=) c.5871C>T (p.Ala1957=) c.5910C>T (p.Ala1970=) c.5880C>T (p.Ala1960=) n.2702C>T c.5775C>T (p.Ala1925=) c.5838C>T (p.Ala1946=) c.5778C>T (p.Ala1926=) c.5976C>T (p.Ala1992=) c.5973C>T (p.Ala1991=) | ClinVar dbSNP |